ClinVar Miner

List of variants studied for congenital muscular dystrophy

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20269
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HGVS dbSNP gnomAD frequency
NM_032237.5(POMK):c.282+34C>A rs5024011 0.99646
NM_021971.4(GMPPB):c.551A>G (p.Gln184Arg) rs1466685 0.98834
NM_001077365.2(POMT1):c.856-49T>G rs4740163 0.97653
NM_004393.6(DAG1):c.41C>G (p.Ser14Trp) rs2131107 0.97526
NM_004393.6(DAG1):c.285+42T>C rs2329024 0.97521
NM_000426.4(LAMA2):c.381C>A (p.Thr127=) rs4404787 0.95273
NM_017739.4(POMGNT1):c.1867A>G (p.Met623Val) rs6659553 0.94881
NM_001077365.2(POMT1):c.986+49G>A rs10901066 0.88278
NM_001077365.2(POMT1):c.876T>C (p.Thr292=) rs10901065 0.88277
NM_001077365.2(POMT1):c.1047T>C (p.Asp349=) rs3739494 0.88273
NM_001077365.2(POMT1):c.428-21T>C rs11243404 0.88267
NM_001077365.2(POMT1):c.700-48A>G rs2018621 0.88264
NM_001077365.2(POMT1):c.*226T>C rs3824395 0.88255
NM_001077365.2(POMT1):c.699+53A>G rs2296949 0.88248
NM_001848.3(COL6A1):c.1335+27A>C rs2850173 0.88231
NM_001077365.2(POMT1):c.*41T>C rs3739495 0.88174
NM_001077365.2(POMT1):c.*278T>C rs10793885 0.88104
NM_004370.6(COL12A1):c.5871T>A (p.Ala1957=) rs594012 0.87913
NM_001848.3(COL6A1):c.2434+15A>G rs2236485 0.87616
NM_016213.5(TRIP4):c.1596G>A (p.Glu532=) rs7167612 0.87160
NM_001077365.2(POMT1):c.*348C>T rs7857419 0.87122
NM_001848.3(COL6A1):c.428+14A>G rs3746993 0.87078
NM_001848.3(COL6A1):c.859-19A>G rs2277814 0.86865
NM_001849.4(COL6A2):c.1671+10A>G rs915786 0.86241
NM_001077365.2(POMT1):c.1698+48C>G rs2277152 0.84050
NM_001077365.2(POMT1):c.2003+13C>T rs4740165 0.84044
NM_013382.7(POMT2):c.*1742G>A rs12894594 0.83615
NM_013382.7(POMT2):c.*1501G>A rs4141640 0.83310
NM_013382.7(POMT2):c.1383G>A (p.Arg461=) rs2270419 0.82874
NM_001849.4(COL6A2):c.1332+26A>G rs3737362 0.82158
NM_013382.7(POMT2):c.1911T>G (p.Leu637=) rs3209079 0.82113
NM_004369.4(COL6A3):c.9034G>C (p.Ala3012Pro) rs2270669 0.81638
NM_001849.4(COL6A2):c.1771-25A>G rs2839113 0.81072
NM_003863.4(DPM2):c.213T>C (p.Tyr71=) rs6781 0.80380
NM_032806.6(POMGNT2):c.1365G>A (p.Pro455=) rs604033 0.80050
NM_003863.3(DPM2):c.-152A>G rs6478802 0.79362
NM_003863.3(DPM2):c.-628A>G rs3758327 0.79360
NM_003863.4(DPM2):c.227C>G (p.Thr76Ser) rs7997 0.79357
NM_020451.3(SELENON):c.425G>A (p.Cys142Tyr) rs7349185 0.78899
NM_001849.4(COL6A2):c.1196G>A (p.Ser399Asn) rs2839110 0.74122
NM_016213.5(TRIP4):c.1044-25G>A rs2046356 0.74036
NM_020451.3(SELENON):c.1173T>C (p.Pro391=) rs760597 0.73933
NM_173660.5(DOK7):c.533-29A>G rs2006791 0.73240
NM_004370.6(COL12A1):c.9172G>A (p.Gly3058Ser) rs970547 0.72620
NM_004370.6(COL12A1):c.5525-132A>G rs1332778 0.71264
NM_001077365.2(POMT1):c.*453T>C rs11005 0.70594
NM_001848.3(COL6A1):c.588+13C>A rs754507 0.69697
NM_004369.4(COL6A3):c.8780T>C (p.Met2927Thr) rs6728818 0.68552
NM_020451.3(SELENON):c.1093-46C>A rs760598 0.68499
NM_004370.6(COL12A1):c.7086+44C>G rs499018 0.64589
NM_020451.3(SELENON):c.1282-41C>T rs10902685 0.64052
NM_020451.3(SELENON):c.1506C>A (p.Asn502Lys) rs2294228 0.64022
NM_000426.4(LAMA2):c.7830G>C (p.Val2610=) rs2229849 0.63028
NM_000426.4(LAMA2):c.7760C>T (p.Ala2587Val) rs2229848 0.62946
NM_001848.3(COL6A1):c.1095T>C (p.Gly365=) rs1980982 0.60426
NM_005198.5(CHKB):c.333+10G>T rs86337 0.59693
NM_002206.3(ITGA7):c.2357+21A>G rs7953669 0.58989
NM_002206.3(ITGA7):c.1282-11T>C rs2293412 0.58963
NM_001848.3(COL6A1):c.1461+18C>A rs2276254 0.58488
NM_004369.4(COL6A3):c.6855G>C (p.Gly2285=) rs3790993 0.56512
NM_013382.7(POMT2):c.*1137G>A rs7158951 0.56341
NM_013382.7(POMT2):c.*790G>A rs7159558 0.56247
NM_001849.4(COL6A2):c.2462-35C>T rs7279622 0.54180
NM_152490.5(B3GALNT2):c.321= (p.Glu107=) rs291396 0.53906
NM_013382.7(POMT2):c.1184-47A>C rs2287387 0.51704
NM_000426.4(LAMA2):c.5466A>G (p.Glu1822=) rs3749877 0.50817
NM_000426.4(LAMA2):c.5502G>A (p.Glu1834=) rs3749878 0.50693
NM_001101426.4(CRPPA):c.789+89A>G rs62441885 0.50511
NM_000426.4(LAMA2):c.5727-24T>A rs3828735 0.50074
NM_000426.4(LAMA2):c.5727-22C>T rs80125253 0.50051
NM_000426.4(LAMA2):c.5727-21T>G rs76902576 0.50019
NM_001848.3(COL6A1):c.1399-32T>C rs2839077 0.49659
NM_002206.3(ITGA7):c.334+19A>G rs2293413 0.49590
NM_001849.4(COL6A2):c.1116+32G>A rs7279347 0.49217
NM_002206.3(ITGA7):c.1887+29G>A rs7974721 0.49050
NM_001848.3(COL6A1):c.1956+15C>T rs11701124 0.48762
NM_002206.3(ITGA7):c.1952G>A (p.Arg651His) rs1800974 0.48530
NM_001101426.4(CRPPA):c.534+13T>A rs6461252 0.47530
NM_002206.3(ITGA7):c.3184-12G>C rs3852533 0.47439
NM_002206.3(ITGA7):c.2004-19G>A rs2293410 0.47288
NM_152490.5(B3GALNT2):c.321G>A (p.Glu107=) rs291396 0.46094
NM_001849.4(COL6A2):c.2039G>A (p.Arg680His) rs1042917 0.45419
NM_001849.4(COL6A2):c.928-19C>T rs762438 0.45414
NM_001849.4(COL6A2):c.2097C>T (p.Gly699=) rs13046639 0.44460
NM_001849.4(COL6A2):c.2094G>A (p.Ala698=) rs13052956 0.44458
NM_004370.6(COL12A1):c.5395-29G>A rs1332020 0.42606
NM_013382.7(POMT2):c.*1058G>A rs11624564 0.41162
NM_013382.7(POMT2):c.*1967C>T rs11547794 0.41103
NM_013382.7(POMT2):c.*1974G>A rs11159254 0.41096
NM_133642.5(LARGE1):c.435C>T (p.Ala145=) rs86487 0.39804
NM_004393.6(DAG1):c.*250T>C rs1050088 0.39364
NM_004369.4(COL6A3):c.7929G>A (p.Ala2643=) rs4433949 0.38748
NM_017739.4(POMGNT1):c.1027-44A>G rs7527668 0.37971
NM_000426.4(LAMA2):c.7760= (p.Ala2587=) rs2229848 0.37054
NM_004369.4(COL6A3):c.9206C>T (p.Thr3069Ile) rs1131296 0.36920
NM_000426.4(LAMA2):c.7845G>A (p.Pro2615=) rs2229850 0.35164
NM_001848.3(COL6A1):c.1462-36A>G rs2276255 0.35129
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=) rs2292487 0.34915
NM_017739.4(POMGNT1):c.951-52A>G rs7527935 0.34868
NM_017739.4(POMGNT1):c.1212-66T>C rs2292484 0.34786
NM_017739.4(POMGNT1):c.1212-81C>T rs2292485 0.34766
NM_000426.4(LAMA2):c.3174+38A>G rs902373 0.33937
NM_001848.3(COL6A1):c.2549G>A (p.Arg850His) rs1053312 0.32867
NM_001848.3(COL6A1):c.2667G>A (p.Ala889=) rs1053315 0.32659
NM_001849.4(COL6A2):c.2184G>A (p.Val728=) rs2839114 0.32526
NM_001848.3(COL6A1):c.2796C>T (p.Ser932=) rs1053320 0.32005
NM_001848.3(COL6A1):c.2434+20G>A rs2236486 0.31361
NM_004393.6(DAG1):c.2256C>T (p.His752=) rs1801143 0.30176
NM_133642.5(LARGE1):c.-177C>T rs3210587 0.29884
NM_001101426.4(CRPPA):c.55A>C (p.Ser19Arg) rs7782939 0.29616
NM_004370.6(COL12A1):c.5213T>C (p.Ile1738Thr) rs240736 0.29412
NM_001848.3(COL6A1):c.1957-11C>T rs8132521 0.28523
NM_173660.5(DOK7):c.332-18T>C rs2699425 0.28202
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=) rs17309806 0.27837
NM_001079802.2(FKTN):c.-158G>C rs4742953 0.27121
NM_000426.4(LAMA2):c.2799A>G (p.Gln933=) rs1027199 0.26612
NM_000426.4(LAMA2):c.1856G>A (p.Arg619His) rs3816665 0.25723
NM_000426.4(LAMA2):c.3411+13G>A rs3798663 0.25503
NM_004369.4(COL6A3):c.6369G>A (p.Leu2123=) rs2646254 0.25503
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
NM_013382.7(POMT2):c.-64G>A rs2270421 0.24706
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_004369.4(COL6A3):c.4533G>T (p.Gly1511=) rs2645774 0.23421
NM_013382.7(POMT2):c.*2325A>G rs11547793 0.22179
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_173660.5(DOK7):c.1382G>A (p.Gly461Asp) rs9684786 0.20663
NM_004369.4(COL6A3):c.3129C>T (p.Gly1043=) rs12622093 0.20507
NM_013382.7(POMT2):c.*75C>T rs1055592 0.20469
NM_004369.4(COL6A3):c.7092+26G>A rs2270656 0.19247
NM_173660.5(DOK7):c.1185C>T (p.Tyr395=) rs6850908 0.18472
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_173660.5(DOK7):c.887A>G (p.Gln296Arg) rs6811423 0.18249
NM_173660.5(DOK7):c.1113A>C (p.Ser371=) rs6811856 0.18181
NM_013382.7(POMT2):c.1911= (p.Leu637=) rs3209079 0.17887
NM_001848.3(COL6A1):c.903+14C>A rs34495634 0.17795
NM_173660.5(DOK7):c.1134G>A (p.Ala378=) rs6831659 0.17563
NM_001849.4(COL6A2):c.1333-8T>C rs73159701 0.17496
NM_024301.5(FKRP):c.-34C>T rs3201779 0.17414
NM_013382.7(POMT2):c.1383= (p.Arg461=) rs2270419 0.17126
NM_016532.4(INPP5K):c.-60G>T rs3815465 0.17124
NM_001848.3(COL6A1):c.2669C>T (p.Ser890Leu) rs13051496 0.15479
NM_013382.7(POMT2):c.*1516A>G rs45518539 0.14946
NM_014254.3(RXYLT1):c.*18C>G rs1876465 0.14533
NM_001849.4(COL6A2):c.2979C>T (p.Arg993=) rs6652 0.14487
NM_001077365.2(POMT1):c.1082+16G>A rs59515295 0.14451
NM_013382.7(POMT2):c.*587G>A rs10141995 0.14409
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14330
NM_024301.5(FKRP):c.135C>T (p.Ala45=) rs2287717 0.14031
NM_001849.4(COL6A2):c.2724A>G (p.Thr908=) rs9977394 0.13855
NM_173660.5(DOK7):c.101-11G>A rs2344209 0.13238
NM_004369.4(COL6A3):c.7596G>A (p.Lys2532=) rs2291795 0.12954
NM_006876.3(B4GAT1):c.117G>A (p.Gln39=) rs11537930 0.12566
NM_001079802.2(FKTN):c.*5618T>A rs1048215 0.12282
NM_001079802.2(FKTN):c.*786T>G rs10978177 0.12279
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.12205
NM_001079802.2(FKTN):c.*1133A>G rs2768282 0.12157
NM_001079802.2(FKTN):c.*2280T>C rs1024366 0.12115
NM_001079802.2(FKTN):c.*5260G>T rs2010861 0.11975
NM_001849.4(COL6A2):c.1609-10C>T rs17357592 0.11879
NM_001077365.2(POMT1):c.699+53= rs2296949 0.11752
NM_001077365.2(POMT1):c.1047= (p.Asp349=) rs3739494 0.11727
NM_001077365.2(POMT1):c.876= (p.Thr292=) rs10901065 0.11723
NM_001077365.2(POMT1):c.*421G>A rs10257 0.11588
NM_001079802.2(FKTN):c.*5041G>A rs1854124 0.11478
NM_013382.7(POMT2):c.1117-20C>T rs7153929 0.11460
NM_013382.7(POMT2):c.*1748C>A rs45458096 0.11420
NM_004370.6(COL12A1):c.8265+19A>T rs9447445 0.11270
NM_004370.6(COL12A1):c.1892-8_1892-6del rs199713791 0.10881
NM_004369.4(COL6A3):c.6945C>T (p.Phe2315=) rs2646265 0.10608
NM_004369.4(COL6A3):c.7512C>T (p.Asn2504=) rs2646258 0.10531
NM_004369.4(COL6A3):c.9213C>T (p.His3071=) rs2270671 0.10029
NM_001849.4(COL6A2):c.663C>T (p.Pro221=) rs59531343 0.09859
NM_005198.5(CHKB):c.*134T>C rs1056964 0.09639
NM_005198.5(CHKB):c.*216C>G rs3180872 0.09626
NM_133642.5(LARGE1):c.-63C>T rs16992986 0.09348
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met) rs2306942 0.09135
NM_000426.4(LAMA2):c.7906A>G (p.Thr2636Ala) rs2244008 0.08650
NM_000426.4(LAMA2):c.156C>T (p.Ile52=) rs1140366 0.08370
NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg) rs35548026 0.08193
NM_000426.4(LAMA2):c.4523+19C>T rs17057158 0.08168
NM_000426.4(LAMA2):c.4956C>G (p.Thr1652=) rs17057184 0.07998
NM_133642.5(LARGE1):c.*921C>G rs16992034 0.07871
NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu) rs36117715 0.07538
NM_001079802.2(FKTN):c.*5062G>A rs1854125 0.07482
NM_133642.5(LARGE1):c.-397C>G rs114106875 0.07319
NM_004369.4(COL6A3):c.8962A>G (p.Met2988Val) rs11690358 0.07295
NM_004369.4(COL6A3):c.8451A>G (p.Pro2817=) rs61729844 0.06907
NM_004369.4(COL6A3):c.7842C>T (p.Ser2614=) rs34558385 0.06903
NM_004369.4(COL6A3):c.8820G>A (p.Thr2940=) rs11683438 0.06890
NM_004369.4(COL6A3):c.7329C>T (p.Ala2443=) rs10084221 0.06701
NM_004369.4(COL6A3):c.9129C>T (p.Arg3043=) rs10201909 0.06660
NM_002206.3(ITGA7):c.415-10C>T rs11171661 0.06475
NM_173660.5(DOK7):c.1243C>T (p.Pro415Ser) rs16844464 0.06297
NM_001849.4(COL6A2):c.1770+4G>A rs9981981 0.06098
NM_013382.7(POMT2):c.-124G>A rs147337187 0.06001
NM_002206.3(ITGA7):c.810G>A (p.Gly270=) rs3847675 0.05834
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln) rs11896521 0.05751
NM_017739.4(POMGNT1):c.1895+30A>G rs113174528 0.05532
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420 0.05519
NM_004370.6(COL12A1):c.7786A>G (p.Ile2596Val) rs35710072 0.05341
NM_170707.4(LMNA):c.810+13G>T rs11264444 0.05317
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn) rs11553519 0.05277
NM_017739.4(POMGNT1):c.1867= (p.Met623=) rs6659553 0.05119
NM_002206.3(ITGA7):c.3018C>G (p.Ser1006=) rs17117883 0.05018
NM_032806.6(POMGNT2):c.1233G>A (p.Gln411=) rs9811883 0.04801
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=) rs17722172 0.04733
NM_173660.5(DOK7):c.753G>A (p.Ala251=) rs59932476 0.04559
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04243
NM_017739.4(POMGNT1):c.235+33T>G rs41309197 0.04222
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406 0.04069
NM_013382.7(POMT2):c.-128C>T rs116224770 0.03577
NM_001849.4(COL6A2):c.714+9C>T rs78822624 0.03565
NM_004370.6(COL12A1):c.6479A>T (p.Glu2160Val) rs35523808 0.03556
NM_133642.5(LARGE1):c.*154C>A rs73399512 0.03456
NM_002206.3(ITGA7):c.824G>A (p.Arg275His) rs74867235 0.03438
NM_001849.4(COL6A2):c.2163G>A (p.Gln721=) rs16978875 0.03433
NM_133642.5(LARGE1):c.*856G>A rs77663505 0.03428
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_133642.5(LARGE1):c.*207G>A rs16992036 0.03294
NM_001848.3(COL6A1):c.1773G>A (p.Pro591=) rs74852641 0.03265
NM_004369.4(COL6A3):c.1914G>A (p.Arg638=) rs34904623 0.03265
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu) rs8177536 0.03119
NM_005198.5(CHKB):c.*96G>C rs17001634 0.03056
NM_001848.3(COL6A1):c.2435-19C>T rs115181427 0.03003
NM_001101426.4(CRPPA):c.726A>G (p.Gln242=) rs61746966 0.02927
NM_001079802.2(FKTN):c.*3778T>C rs79831528 0.02904
NM_001848.3(COL6A1):c.2781C>T (p.Tyr927=) rs61735853 0.02858
NM_020451.3(SELENON):c.981C>T (p.Arg327=) rs147587542 0.02788
NM_004369.4(COL6A3):c.1976G>A (p.Arg659His) rs36092870 0.02734
NM_017739.4(POMGNT1):c.1111-23C>T rs2292486 0.02728
NM_001849.4(COL6A2):c.679G>A (p.Asp227Asn) rs35881321 0.02685
NM_004369.4(COL6A3):c.9123G>A (p.Thr3041=) rs61729843 0.02678
NM_004369.4(COL6A3):c.882C>T (p.Phe294=) rs7561625 0.02665
NM_004369.4(COL6A3):c.1313-17A>G rs7579816 0.02624
NM_004370.6(COL12A1):c.4001-10G>A rs73749974 0.02617
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=) rs34292743 0.02604
NM_001848.3(COL6A1):c.1273-8C>T rs7280215 0.02565
NM_004370.6(COL12A1):c.2772T>C (p.Tyr924=) rs35429515 0.02487
NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val) rs61734789 0.02478
NM_004393.6(DAG1):c.41= (p.Ser14=) rs1553648360 0.02474
NM_004370.6(COL12A1):c.626A>C (p.Lys209Thr) rs75535959 0.02433
NM_004369.4(COL6A3):c.7509G>A (p.Arg2503=) rs34181055 0.02427
NM_020451.3(SELENON):c.1745G>A (p.Arg582Gln) rs74060854 0.02376
NM_173660.5(DOK7):c.589G>A (p.Asp197Asn) rs16844422 0.02362
NM_133642.5(LARGE1):c.576C>T (p.Pro192=) rs36002910 0.02334
NM_020451.3(SELENON):c.42C>T (p.Pro14=) rs187960531 0.02295
NM_000426.4(LAMA2):c.8028T>C (p.Asn2676=) rs35313209 0.02285
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751 0.02208
NM_133642.5(LARGE1):c.*740A>G rs116335813 0.02207
NM_000426.4(LAMA2):c.8528A>G (p.Asn2843Ser) rs73599293 0.02196
NM_133642.5(LARGE1):c.1827A>G (p.Ser609=) rs11913417 0.02196
NM_001848.3(COL6A1):c.1314G>A (p.Thr438=) rs7279254 0.02172
NM_001849.4(COL6A2):c.3043A>C (p.Ile1015Leu) rs11910483 0.02152
NM_004369.4(COL6A3):c.5100G>A (p.Arg1700=) rs34340053 0.02105
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797 0.02093
NM_002206.3(ITGA7):c.2433-5G>A rs79745402 0.02069
NM_001848.3(COL6A1):c.2736C>T (p.Asp912=) rs13879 0.02053
NM_004369.4(COL6A3):c.1786G>T (p.Ala596Ser) rs34934127 0.02035
NM_004370.6(COL12A1):c.5225G>A (p.Arg1742His) rs79830915 0.02025
NM_017739.4(POMGNT1):c.1540-16C>T rs10493123 0.02014
NM_001077365.2(POMT1):c.1275A>G (p.Glu425=) rs62620174 0.02004
NM_013382.7(POMT2):c.*1087C>T rs59725094 0.01993
NM_001077365.2(POMT1):c.*529G>A rs116005066 0.01991
NM_004369.4(COL6A3):c.7086A>C (p.Gly2362=) rs35902696 0.01962
NM_133642.5(LARGE1):c.309C>T (p.Ser103=) rs59349720 0.01920
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=) rs61735829 0.01898
NM_013382.7(POMT2):c.*1337C>T rs45561437 0.01861
NM_133642.5(LARGE1):c.1949G>A (p.Arg650Gln) rs73399520 0.01853
NM_020451.3(SELENON):c.1387+11C>T rs59653066 0.01839
NM_001849.4(COL6A2):c.*56T>G rs148337125 0.01837
NM_004369.4(COL6A3):c.6981A>G (p.Glu2327=) rs35993209 0.01827
NM_004369.4(COL6A3):c.3071-16G>A rs73998896 0.01822
NM_004369.4(COL6A3):c.8145A>G (p.Leu2715=) rs35763271 0.01816
NM_004369.4(COL6A3):c.7995A>C (p.Ala2665=) rs80193928 0.01815
NM_001848.3(COL6A1):c.1957-5C>T rs78224483 0.01793
NM_005198.5(CHKB):c.216C>T (p.Tyr72=) rs80067609 0.01782
NM_002206.3(ITGA7):c.1617G>T (p.Gln539His) rs61733963 0.01753
NM_002206.3(ITGA7):c.3144G>C (p.Gly1048=) rs62648071 0.01749
NM_002206.3(ITGA7):c.1567+12C>T rs79849707 0.01666
NM_000426.4(LAMA2):c.8691A>G (p.Arg2897=) rs2228599 0.01648
NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val) rs12115566 0.01621
NM_004370.6(COL12A1):c.8980T>C (p.Ser2994Pro) rs34846477 0.01603
NM_004370.6(COL12A1):c.6444A>T (p.Ile2148=) rs36002196 0.01590
NM_001848.3(COL6A1):c.1524+15G>A rs116000285 0.01582
NM_032237.5(POMK):c.795C>T (p.Asp265=) rs36071326 0.01548
NM_004369.4(COL6A3):c.6157-16G>A rs112637114 0.01524
NM_001079802.2(FKTN):c.*4825T>C rs115155934 0.01517
NM_001079802.2(FKTN):c.*2298C>G rs116107812 0.01491
NM_024301.5(FKRP):c.192C>T (p.Pro64=) rs111754012 0.01474
NM_133642.5(LARGE1):c.165G>C (p.Thr55=) rs63446460 0.01465
NM_004370.6(COL12A1):c.834T>G (p.Ala278=) rs16886258 0.01455
NM_021971.4(GMPPB):c.376C>G (p.His126Asp) rs34345884 0.01439
NM_002206.3(ITGA7):c.1965T>C (p.Cys655=) rs7971022 0.01436
NM_002206.3(ITGA7):c.3031T>C (p.Leu1011=) rs17117879 0.01435
NM_173660.5(DOK7):c.1351C>T (p.Arg451Trp) rs16844470 0.01433
NM_004370.6(COL12A1):c.1551A>G (p.Thr517=) rs34767467 0.01428
NM_004370.6(COL12A1):c.2007G>A (p.Ala669=) rs77790445 0.01425
NM_173660.5(DOK7):c.1317C>T (p.Ser439=) rs16844467 0.01424
NM_004370.6(COL12A1):c.2086T>C (p.Leu696=) rs116691242 0.01422
NM_173660.5(DOK7):c.1143C>T (p.Pro381=) rs56769879 0.01415
NM_004369.4(COL6A3):c.3054C>T (p.Asn1018=) rs34367758 0.01387
NM_004369.4(COL6A3):c.9411T>C (p.Cys3137=) rs112290343 0.01385
NM_001848.3(COL6A1):c.1443G>A (p.Glu481=) rs80244281 0.01378
NM_004369.4(COL6A3):c.3420G>A (p.Thr1140=) rs35489467 0.01378
NM_004369.4(COL6A3):c.8822C>T (p.Ala2941Val) rs11903206 0.01334
NM_001848.3(COL6A1):c.2042T>C (p.Ile681Thr) rs138884734 0.01280
NM_013382.7(POMT2):c.-56G>A rs567281401 0.01276
NM_000426.4(LAMA2):c.3613A>G (p.Thr1205Ala) rs35889149 0.01262
NM_003863.3(DPM2):c.-382C>T rs112813338 0.01257
NM_004370.6(COL12A1):c.8650-19T>A rs79461746 0.01255
NM_152637.3(TMT1B):c.670C>T (p.Arg224Ter) rs115687886 0.01252
NM_020451.3(SELENON):c.409A>G (p.Thr137Ala) rs35019869 0.01231
NM_173660.5(DOK7):c.653-19A>C rs191981243 0.01231
NM_001848.3(COL6A1):c.97+20G>A rs114178849 0.01230
NM_001079802.2(FKTN):c.*5517T>C rs114655654 0.01215
NM_004369.4(COL6A3):c.1389C>T (p.Ala463=) rs112896869 0.01203
NM_001848.3(COL6A1):c.2061C>A (p.Leu687=) rs8132678 0.01197
NM_021971.4(GMPPB):c.330C>T (p.Asp110=) rs11547261 0.01192
NM_001079802.2(FKTN):c.*818C>T rs79162268 0.01167
NM_021971.4(GMPPB):c.551= (p.Gln184=) rs1466685 0.01166
NM_001848.3(COL6A1):c.958-17G>A rs79364611 0.01165
NM_004370.6(COL12A1):c.6848G>A (p.Gly2283Glu) rs77094372 0.01163
NM_001849.4(COL6A2):c.2592G>A (p.Thr864=) rs1042930 0.01149
NM_004369.4(COL6A3):c.768C>T (p.Val256=) rs79606264 0.01148
NM_004370.6(COL12A1):c.6198A>C (p.Pro2066=) rs34619869 0.01132
NM_001848.3(COL6A1):c.645G>A (p.Ala215=) rs115292913 0.01120
NM_133642.5(LARGE1):c.-149G>C rs143403352 0.01106
NM_004369.4(COL6A3):c.4727G>A (p.Arg1576Gln) rs61729839 0.01085
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578 0.01080
NM_173660.5(DOK7):c.782G>A (p.Arg261His) rs16844460 0.01070
NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=) rs41292143 0.01062
NM_004369.4(COL6A3):c.2419G>A (p.Ala807Thr) rs113155945 0.01061
NM_020451.3(SELENON):c.583G>A (p.Ala195Thr) rs115852080 0.01060
NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=) rs62636653 0.01037
NM_003863.4(DPM2):c.183G>A (p.Leu61=) rs11552794 0.01027
NM_001077365.2(POMT1):c.1125C>T (p.His375=) rs35242383 0.01019
NM_001849.4(COL6A2):c.2983G>A (p.Ala995Thr) rs35139588 0.01019
NM_004369.4(COL6A3):c.4005C>T (p.Gly1335=) rs34503558 0.01014
NM_001848.3(COL6A1):c.2441A>G (p.Lys814Arg) rs11553518 0.01008
NM_032806.6(POMGNT2):c.1488C>T (p.Gly496=) rs35207939 0.01004
NM_001079802.2(FKTN):c.42G>A (p.Thr14=) rs78794935 0.01002
NM_001079802.2(FKTN):c.106-10G>A rs148384394 0.01000
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln) rs80272723 0.01000
NM_001077365.2(POMT1):c.1825+19del rs11345097 0.00998
NM_001849.4(COL6A2):c.832G>A (p.Glu278Lys) rs61735835 0.00998
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys) rs147266709 0.00982
NM_001849.4(COL6A2):c.1552C>T (p.Pro518Ser) rs141166141 0.00982
NM_001077365.2(POMT1):c.78G>A (p.Gly26=) rs149554732 0.00980
NM_001079802.2(FKTN):c.*1638A>G rs78462952 0.00980
NM_016213.5(TRIP4):c.981C>T (p.Thr327=) rs115922345 0.00975
NM_001077365.2(POMT1):c.*338T>G rs193003183 0.00971
NM_004393.6(DAG1):c.2231G>C (p.Ser744Thr) rs114357468 0.00947
NM_001848.3(COL6A1):c.2424G>T (p.Gln808His) rs140547835 0.00922
NM_003863.4(DPM2):c.177C>T (p.Leu59=) rs35334863 0.00922
NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843 0.00914
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_024301.5(FKRP):c.249C>T (p.Ala83=) rs149030303 0.00897
NM_133642.5(LARGE1):c.552G>A (p.Thr184=) rs8142483 0.00887
NM_004369.4(COL6A3):c.6156+4C>T rs111228504 0.00884
NM_004370.6(COL12A1):c.8237T>C (p.Val2746Ala) rs34369939 0.00867
NM_000426.4(LAMA2):c.8548-10T>C rs113644365 0.00865
NM_001849.4(COL6A2):c.1672-12G>A rs113857622 0.00860
NM_001077365.2(POMT1):c.-6T>G rs62620173 0.00840
NM_133642.5(LARGE1):c.*1201A>G rs11544101 0.00840
NM_005198.4(CHKB):c.-97G>C rs114094125 0.00832
NM_133642.5(LARGE1):c.-83+63217G>C rs114574565 0.00831
NM_013382.7(POMT2):c.*2091G>T rs139493728 0.00821
NM_004369.4(COL6A3):c.1613C>T (p.Thr538Met) rs34741387 0.00817
NM_001077365.2(POMT1):c.1826-6C>A rs140258585 0.00816
NM_001077365.2(POMT1):c.1826-7C>A rs148180760 0.00816
NM_013382.7(POMT2):c.*1756C>T rs148688355 0.00815
NM_001079802.2(FKTN):c.*4491T>C rs41316524 0.00811
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301 0.00809
NM_001079802.2(FKTN):c.166-6A>G rs41277795 0.00808
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596 0.00808
NM_001079802.2(FKTN):c.910+14G>A rs76180538 0.00806
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_173660.5(DOK7):c.332-4G>A rs199578351 0.00790
NM_004393.6(DAG1):c.2271C>T (p.Ala757=) rs78281659 0.00786
NM_001079802.2(FKTN):c.*5578G>A rs41277801 0.00776
NM_004370.6(COL12A1):c.5508G>A (p.Thr1836=) rs77425231 0.00776
NM_004370.6(COL12A1):c.6590C>T (p.Thr2197Ile) rs117038107 0.00776
NM_001848.3(COL6A1):c.1316G>A (p.Arg439Gln) rs35059000 0.00775
NM_032806.6(POMGNT2):c.1384C>T (p.Arg462Trp) rs147175064 0.00760
NM_032237.5(POMK):c.624G>C (p.Leu208=) rs34040483 0.00759
NM_001101426.4(CRPPA):c.32C>G (p.Pro11Arg) rs192925278 0.00734
NM_004370.6(COL12A1):c.6210+13C>T rs139520272 0.00723
NM_000426.4(LAMA2):c.1403C>G (p.Ala468Gly) rs111695726 0.00720
NM_002206.3(ITGA7):c.46T>G (p.Cys16Gly) rs142060614 0.00719
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys) rs141703710 0.00717
NM_001848.3(COL6A1):c.1612-10G>A rs141892165 0.00714
NM_004369.4(COL6A3):c.1791C>T (p.Phe597=) rs76576170 0.00714
NM_001079802.2(FKTN):c.*1229A>G rs116549376 0.00711
NM_001848.3(COL6A1):c.1823-8G>A rs184666690 0.00711
NM_002206.3(ITGA7):c.903C>T (p.Ser301=) rs113343213 0.00707
NM_001848.3(COL6A1):c.1182+20C>T rs7275706 0.00705
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys) rs114363936 0.00703
NM_004369.4(COL6A3):c.5059C>T (p.Pro1687Ser) rs35273032 0.00703
NM_002206.3(ITGA7):c.1281+13G>A rs143895796 0.00701
NM_133642.5(LARGE1):c.-31G>A rs117199378 0.00694
NM_001848.3(COL6A1):c.3054C>T (p.His1018=) rs141237809 0.00680
NM_001079802.2(FKTN):c.*2213A>G rs141298287 0.00678
NM_002206.3(ITGA7):c.459C>G (p.Ile153Met) rs149000088 0.00672
NM_005198.5(CHKB):c.-48G>T rs41282357 0.00660
NM_014254.3(RXYLT1):c.1226A>G (p.Glu409Gly) rs141536395 0.00659
NM_013382.7(POMT2):c.2175C>T (p.Tyr725=) rs116434191 0.00658
NM_001849.4(COL6A2):c.2856G>A (p.Thr952=) rs138074469 0.00644
NM_004393.6(DAG1):c.259A>G (p.Ile87Val) rs116717961 0.00640
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_002206.3(ITGA7):c.1609C>T (p.Arg537Trp) rs61733050 0.00636
NM_000426.4(LAMA2):c.8774C>T (p.Pro2925Leu) rs77113162 0.00635
NM_001849.4(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828 0.00627
NM_152490.5(B3GALNT2):c.152A>G (p.Tyr51Cys) rs61742900 0.00622
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His) rs1046166 0.00617
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) rs76109289 0.00616
NM_004369.4(COL6A3):c.4285+9G>A rs75780727 0.00613
NM_013382.7(POMT2):c.1183+14A>G rs80099135 0.00613
NM_001077365.2(POMT1):c.*206A>G rs111470256 0.00610
NM_004369.4(COL6A3):c.4183C>T (p.Arg1395Trp) rs73998894 0.00603
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501 0.00602
NM_001849.4(COL6A2):c.2769C>T (p.His923=) rs140419176 0.00591
NM_133642.5(LARGE1):c.*1235A>G rs1801820 0.00578
NM_001101426.4(CRPPA):c.346C>T (p.Arg116Cys) rs61744487 0.00561
NM_001848.3(COL6A1):c.739-18C>T rs144843800 0.00561
NM_004369.4(COL6A3):c.6105G>A (p.Lys2035=) rs35556524 0.00550
NM_004369.4(COL6A3):c.4107C>T (p.Ile1369=) rs35114079 0.00549
NM_058174.3(COL6A2):c.2649C>T (p.Phe883=) rs149172490 0.00540
NM_173660.5(DOK7):c.1204C>T (p.Arg402Trp) rs149905649 0.00516
NM_002206.3(ITGA7):c.3384C>T (p.Pro1128=) rs148170949 0.00509
NM_004370.6(COL12A1):c.2481G>A (p.Thr827=) rs35170847 0.00506
NM_004369.4(COL6A3):c.1471G>C (p.Asp491His) rs112010940 0.00503
NM_004369.4(COL6A3):c.1475C>G (p.Thr492Ser) rs113897824 0.00503
NM_004370.6(COL12A1):c.9162C>T (p.Tyr3054=) rs35292916 0.00501
NM_004370.6(COL12A1):c.4917C>T (p.Asp1639=) rs80102965 0.00499
NM_013382.7(POMT2):c.652G>A (p.Asp218Asn) rs140785104 0.00496
NM_001848.3(COL6A1):c.777G>A (p.Pro259=) rs61735854 0.00491
NM_001848.3(COL6A1):c.579C>T (p.Pro193=) rs61751027 0.00488
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His) rs41266761 0.00484
NM_017739.4(POMGNT1):c.-11G>A rs80107141 0.00484
NM_004369.4(COL6A3):c.8010G>A (p.Ala2670=) rs79313758 0.00483
NM_004369.4(COL6A3):c.7928C>T (p.Ala2643Val) rs111595697 0.00482
NM_005198.5(CHKB):c.*208T>G rs41281533 0.00481
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr) rs117931394 0.00474
NM_001079802.2(FKTN):c.*2427G>T rs116364105 0.00472
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu) rs62272670 0.00470
NM_017739.4(POMGNT1):c.120+13C>T rs12737140 0.00459
NM_032806.6(POMGNT2):c.537G>C (p.Leu179=) rs149932476 0.00458
NM_004393.6(DAG1):c.1701C>T (p.Ser567=) rs142579425 0.00456
NM_004369.4(COL6A3):c.3456C>T (p.Ser1152=) rs112815265 0.00444
NM_004369.4(COL6A3):c.4895G>A (p.Arg1632Gln) rs111231885 0.00438
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 0.00435
NM_004369.4(COL6A3):c.1182C>T (p.Thr394=) rs114750216 0.00432
NM_004369.4(COL6A3):c.9069C>T (p.Thr3023=) rs111234422 0.00431
NM_133642.5(LARGE1):c.163A>G (p.Thr55Ala) rs34642406 0.00430
NM_032806.6(POMGNT2):c.762G>A (p.Lys254=) rs115870061 0.00429
NM_001848.3(COL6A1):c.1056C>T (p.Asp352=) rs116343553 0.00426
NM_001079802.2(FKTN):c.648-1278A>C rs181901044 0.00425
NM_004369.4(COL6A3):c.8735C>T (p.Pro2912Leu) rs112928650 0.00421
NM_004370.6(COL12A1):c.4245T>C (p.Tyr1415=) rs34830422 0.00420
NM_004370.6(COL12A1):c.4876T>G (p.Ser1626Ala) rs77654847 0.00419
NM_001127898.4(CLCN5):c.316-17T>G rs56117808 0.00404
NM_001848.3(COL6A1):c.1335+20G>C rs9306146 0.00401
NM_173660.5(DOK7):c.54+19C>T rs757053604 0.00400
NM_004369.4(COL6A3):c.1231C>G (p.Leu411Val) rs113716915 0.00396
NM_004369.4(COL6A3):c.709+11C>T rs111660070 0.00395
NM_004369.4(COL6A3):c.4285+17G>A rs3791000 0.00392
NM_004369.4(COL6A3):c.4683G>A (p.Gln1561=) rs113074898 0.00392
NM_004369.4(COL6A3):c.2030G>A (p.Arg677His) rs35227432 0.00389
NM_004369.4(COL6A3):c.8572G>A (p.Val2858Ile) rs111859552 0.00388
NM_004369.4(COL6A3):c.8745G>A (p.Ala2915=) rs112382351 0.00388
NM_004369.4(COL6A3):c.6211-3C>T rs139622600 0.00387
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val) rs138171526 0.00378
NM_017739.4(POMGNT1):c.*221G>A rs181362801 0.00374
NM_001849.4(COL6A2):c.2886C>T (p.His962=) rs115970356 0.00365
NM_017739.4(POMGNT1):c.*451C>T rs148903585 0.00364
NM_004369.4(COL6A3):c.6972C>T (p.Asn2324=) rs113961575 0.00363
NM_004369.4(COL6A3):c.1638C>T (p.Ala546=) rs112040282 0.00360
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382 0.00359
NM_004369.4(COL6A3):c.3087C>T (p.Asp1029=) rs113066678 0.00353
NM_001848.3(COL6A1):c.2742C>T (p.Thr914=) rs115163637 0.00349
NM_004370.6(COL12A1):c.4000+5G>A rs181257320 0.00349
NM_004370.6(COL12A1):c.3651C>T (p.Thr1217=) rs140319205 0.00348
NM_001849.4(COL6A2):c.2136C>T (p.Asp712=) rs114554195 0.00347
NM_002206.3(ITGA7):c.2644G>A (p.Glu882Lys) rs144983062 0.00347
NM_004370.6(COL12A1):c.4335A>G (p.Lys1445=) rs113549828 0.00347
NM_001849.4(COL6A2):c.510C>T (p.Cys170=) rs142328765 0.00343
NM_013382.7(POMT2):c.2148-18A>G rs138488805 0.00343
NM_000426.4(LAMA2):c.6150T>C (p.Asp2050=) rs114766691 0.00339
NM_001101426.4(CRPPA):c.1251+18C>T rs201599524 0.00339
NM_004369.4(COL6A3):c.8346G>A (p.Glu2782=) rs35911211 0.00339
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_002206.3(ITGA7):c.2146A>C (p.Met716Leu) rs149403824 0.00333
NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln) rs151078549 0.00333
NM_001077365.2(POMT1):c.1585-14C>T rs78529026 0.00332
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=) rs77351928 0.00330
NM_133642.5(LARGE1):c.-399A>T rs535216289 0.00327
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269 0.00324
NM_002206.3(ITGA7):c.1506-14C>T rs148374832 0.00322
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_005198.5(CHKB):c.983A>G (p.Gln328Arg) rs141381896 0.00317
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His) rs75120695 0.00315
NM_004393.6(DAG1):c.258G>C (p.Leu86Phe) rs145403829 0.00314
NM_001848.3(COL6A1):c.1518T>C (p.Gly506=) rs35134265 0.00313
NM_001848.3(COL6A1):c.1182+3G>A rs62215499 0.00310
NM_170707.4(LMNA):c.811-13T>A rs80356809 0.00309
NM_004369.4(COL6A3):c.3191G>A (p.Arg1064Gln) rs112638391 0.00306
NM_001079802.2(FKTN):c.*2265T>C rs76003803 0.00304
NM_001101426.4(CRPPA):c.67G>T (p.Gly23Cys) rs187484645 0.00299
NM_001848.3(COL6A1):c.2067-10T>C rs200727020 0.00299
NM_001849.4(COL6A2):c.499G>A (p.Gly167Ser) rs115957676 0.00299
NM_001848.3(COL6A1):c.1612-6C>T rs143812383 0.00296
NM_002206.3(ITGA7):c.2701A>G (p.Ile901Val) rs113651939 0.00295
NM_001079802.2(FKTN):c.*3861T>C rs185745657 0.00292
NM_006876.3(B4GAT1):c.828G>T (p.Val276=) rs142956522 0.00291
NM_005572.3(LMNA):c.-223C>T rs188625872 0.00284
NM_004370.6(COL12A1):c.5874A>G (p.Pro1958=) rs186035636 0.00283
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254 0.00280
NM_004370.6(COL12A1):c.4186C>A (p.Arg1396=) rs115511838 0.00278
NM_004370.6(COL12A1):c.6068-14T>A rs189714891 0.00278
NM_032806.6(POMGNT2):c.364G>A (p.Val122Met) rs149948290 0.00274
NM_004369.4(COL6A3):c.5820C>T (p.Ser1940=) rs113542401 0.00272
NM_002206.3(ITGA7):c.2569G>A (p.Gly857Ser) rs149081471 0.00270
NM_020451.3(SELENON):c.1645G>A (p.Val549Met) rs147131452 0.00268
NM_004369.4(COL6A3):c.2463T>C (p.Ser821=) rs115387170 0.00267
NM_032237.5(POMK):c.714C>T (p.Ser238=) rs148949414 0.00266
NM_004369.4(COL6A3):c.730A>G (p.Ile244Val) rs116729313 0.00265
NM_013382.7(POMT2):c.*176C>T rs143803905 0.00265
NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg) rs146869947 0.00264
NM_006876.3(B4GAT1):c.987C>T (p.Tyr329=) rs1190625 0.00264
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066 0.00264
NM_003863.4(DPM2):c.3+12A>G rs2274425 0.00262
NM_004370.6(COL12A1):c.2965G>A (p.Gly989Arg) rs139332405 0.00262
NM_004370.6(COL12A1):c.8582G>A (p.Ser2861Asn) rs148065232 0.00261
NM_001077365.2(POMT1):c.*635T>G rs112845474 0.00260
NM_004369.4(COL6A3):c.8458G>A (p.Val2820Ile) rs115171119 0.00260
NM_001849.4(COL6A2):c.2220T>C (p.Asp740=) rs61735830 0.00258
NM_013382.7(POMT2):c.924-10C>T rs142122657 0.00258
NM_001848.3(COL6A1):c.2130G>A (p.Thr710=) rs147219060 0.00252
NM_002206.3(ITGA7):c.3058-6C>T rs201070308 0.00252
NM_024301.5(FKRP):c.822C>G (p.Ile274Met) rs77138370 0.00251
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile) rs150576537 0.00250
NM_004393.6(DAG1):c.1233G>A (p.Val411=) rs145765079 0.00249
NM_032806.6(POMGNT2):c.450A>G (p.Pro150=) rs142190930 0.00248
NM_004370.6(COL12A1):c.4691-12G>A rs146472530 0.00243
NM_173660.5(DOK7):c.1295G>A (p.Arg432Lys) rs145419117 0.00243
NM_001849.4(COL6A2):c.2332G>A (p.Asp778Asn) rs28562813 0.00242
NM_173660.5(DOK7):c.332-69_332-18del rs1560212382 0.00242
NM_020451.3(SELENON):c.550G>C (p.Ala184Pro) rs199742668 0.00240
NM_173660.5(DOK7):c.904G>C (p.Ala302Pro) rs79063654 0.00237
NM_004369.4(COL6A3):c.3446G>A (p.Arg1149Gln) rs36062562 0.00234
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825 0.00233
NM_173660.5(DOK7):c.1469C>T (p.Ser490Leu) rs77513082 0.00232
NM_001077365.2(POMT1):c.*25C>T rs115818625 0.00230
NM_001849.4(COL6A2):c.1161C>T (p.Ile387=) rs140027285 0.00229
NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432 0.00228
NM_004393.6(DAG1):c.2036G>A (p.Arg679His) rs113904914 0.00227
NM_173660.5(DOK7):c.178G>A (p.Glu60Lys) rs199980106 0.00227
NM_032237.5(POMK):c.1006G>A (p.Asp336Asn) rs113361507 0.00226
NM_004369.4(COL6A3):c.7400C>T (p.Ser2467Leu) rs111803773 0.00225
NM_000426.4(LAMA2):c.8755C>T (p.Pro2919Ser) rs143026295 0.00224
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile) rs116105846 0.00224
NM_004370.6(COL12A1):c.2275C>T (p.Pro759Ser) rs141517088 0.00224
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=) rs74550830 0.00224
NM_002206.3(ITGA7):c.882G>A (p.Val294=) rs148190047 0.00223
NM_001077365.2(POMT1):c.1416C>T (p.Val472=) rs139687326 0.00222
NM_001079802.2(FKTN):c.*2592T>C rs538086095 0.00220
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro) rs558064127 0.00220
NM_004369.4(COL6A3):c.1688A>G (p.Asp563Gly) rs112913396 0.00220
NM_133642.5(LARGE1):c.210C>T (p.Arg70=) rs145048151 0.00220
NM_001079802.2(FKTN):c.167G>A (p.Arg56His) rs146951171 0.00218
NM_133642.5(LARGE1):c.-83+63202T>G rs147343461 0.00215
NM_004369.4(COL6A3):c.4217C>T (p.Thr1406Met) rs114061998 0.00214
NM_024301.5(FKRP):c.1440C>T (p.Asn480=) rs115365212 0.00213
NM_001079802.2(FKTN):c.-88-6T>C rs115730708 0.00212
NM_013382.7(POMT2):c.1332+13C>T rs142916824 0.00211
NM_001849.4(COL6A2):c.1671+9C>T rs186428044 0.00210
NM_004370.6(COL12A1):c.1892-7T>A rs779185109 0.00210
NM_173660.5(DOK7):c.919G>A (p.Ala307Thr) rs150415034 0.00210
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) rs78592085 0.00208
NM_032806.6(POMGNT2):c.674G>A (p.Arg225Gln) rs138980930 0.00208
NM_001849.4(COL6A2):c.1333-10C>G rs199513044 0.00207
NM_002206.3(ITGA7):c.2958+16G>A rs200586885 0.00207
NM_001079802.2(FKTN):c.*1018T>A rs16924759 0.00204
NM_001849.4(COL6A2):c.1140C>T (p.Arg380=) rs144482400 0.00202
NM_173660.5(DOK7):c.812G>C (p.Ser271Thr) rs144592743 0.00202
NM_001079802.2(FKTN):c.-96T>C rs151250905 0.00201
NM_001848.3(COL6A1):c.1298G>A (p.Arg433Gln) rs151158105 0.00200
NM_001849.4(COL6A2):c.81G>A (p.Ser27=) rs111639540 0.00199
NM_017739.4(POMGNT1):c.236-13T>C rs150578902 0.00196
NM_001848.3(COL6A1):c.2250+6G>C rs202212586 0.00195
NM_001848.3(COL6A1):c.324C>T (p.Gly108=) rs138646508 0.00194
NM_032806.6(POMGNT2):c.966C>G (p.Ser322=) rs141319921 0.00186
NM_001849.4(COL6A2):c.1614C>T (p.Gly538=) rs147194375 0.00185
NM_001077365.2(POMT1):c.1932C>T (p.Tyr644=) rs146512619 0.00181
NM_032237.5(POMK):c.902T>C (p.Met301Thr) rs33920561 0.00181
NM_173660.5(DOK7):c.1278C>T (p.Pro426=) rs139468087 0.00181
NM_024301.5(FKRP):c.1179A>G (p.Val393=) rs145894568 0.00179
NM_004369.4(COL6A3):c.3270C>T (p.Asp1090=) rs113781746 0.00178
NM_005198.5(CHKB):c.249C>T (p.Phe83=) rs180979987 0.00176
NM_020451.3(SELENON):c.846C>T (p.Ser282=) rs34177164 0.00175
NM_001848.3(COL6A1):c.1336-15C>T rs201003020 0.00174
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=) rs113253213 0.00174
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met) rs117422805 0.00173
NM_001849.4(COL6A2):c.3017C>T (p.Ala1006Val) rs113169531 0.00173
NM_004370.6(COL12A1):c.5727C>T (p.Tyr1909=) rs146146364 0.00173
NM_004370.6(COL12A1):c.8970T>C (p.Gly2990=) rs190501064 0.00173
NM_013382.7(POMT2):c.*606G>A rs141262145 0.00173
NM_173660.5(DOK7):c.921C>T (p.Ala307=) rs138148221 0.00170
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576 0.00169
NM_002206.3(ITGA7):c.2737C>T (p.Arg913Trp) rs140030984 0.00169
NM_005198.5(CHKB):c.149A>G (p.Tyr50Cys) rs138205828 0.00169
NM_001079802.2(FKTN):c.*3460G>A rs539474742 0.00168
NM_001079802.2(FKTN):c.*3918A>G rs17316607 0.00167
NM_001848.3(COL6A1):c.1833C>T (p.Cys611=) rs142554239 0.00167
NM_004393.6(DAG1):c.599C>G (p.Thr200Ser) rs41290704 0.00167
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=) rs76092524 0.00166
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser) rs141625803 0.00164
NM_001848.3(COL6A1):c.2517C>T (p.Ser839=) rs141463437 0.00163
NM_001849.4(COL6A2):c.483C>T (p.Thr161=) rs138312213 0.00163
NM_152490.5(B3GALNT2):c.1361G>C (p.Arg454Thr) rs140350162 0.00163
NM_004370.6(COL12A1):c.1896C>T (p.Tyr632=) rs201266825 0.00159
NM_013382.7(POMT2):c.1881G>A (p.Ala627=) rs146588608 0.00158
NM_001849.4(COL6A2):c.1560C>G (p.Pro520=) rs112197239 0.00156
NM_152490.5(B3GALNT2):c.361+19T>C rs190977329 0.00155
NM_001848.3(COL6A1):c.2635A>G (p.Ser879Gly) rs140534207 0.00154
NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln) rs144051476 0.00153
NM_173660.5(DOK7):c.532+18G>A rs200487431 0.00153
NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys) rs185594460 0.00151
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=) rs181099904 0.00151
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile) rs140679502 0.00150
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln) rs144830948 0.00148
NM_013382.7(POMT2):c.1683T>C (p.Asn561=) rs146307965 0.00148
NM_133642.5(LARGE1):c.-480C>T rs886057469 0.00148
NM_004369.4(COL6A3):c.1761C>T (p.Ala587=) rs34978064 0.00147
NM_004370.6(COL12A1):c.5005G>C (p.Glu1669Gln) rs181511246 0.00147
NM_002206.3(ITGA7):c.610G>A (p.Ala204Thr) rs76770808 0.00146
NM_001848.3(COL6A1):c.588+8C>G rs398123638 0.00144
NM_024301.5(FKRP):c.567C>T (p.Pro189=) rs201454433 0.00144
NM_001848.3(COL6A1):c.105C>G (p.Pro35=) rs145579577 0.00143
NM_004370.6(COL12A1):c.5402T>C (p.Ile1801Thr) rs200317239 0.00141
NM_020451.3(SELENON):c.852C>T (p.Phe284=) rs187880136 0.00141
NM_001848.3(COL6A1):c.1644C>T (p.Asp548=) rs182425338 0.00140
NM_133642.5(LARGE1):c.1008T>C (p.Asp336=) rs115076367 0.00140
NM_005198.5(CHKB):c.457T>C (p.Leu153=) rs146693439 0.00138
NM_032237.5(POMK):c.564C>T (p.Ile188=) rs55724435 0.00136
NM_001848.3(COL6A1):c.1776C>T (p.Asp592=) rs148439285 0.00135
NM_002206.3(ITGA7):c.3150G>T (p.Leu1050=) rs114735704 0.00135
NM_173660.5(DOK7):c.1480G>A (p.Val494Ile) rs202073484 0.00135
NM_001848.3(COL6A1):c.2220G>A (p.Pro740=) rs138976133 0.00134
NM_133642.5(LARGE1):c.-455G>A rs532736408 0.00134
NM_007171.3(POMT1):c.*694G>A rs550900373 0.00133
NM_001848.3(COL6A1):c.2049C>T (p.Asn683=) rs143695871 0.00132
NM_001848.3(COL6A1):c.2865C>T (p.Ile955=) rs138062080 0.00131
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp) rs150165484 0.00131
NM_020451.3(SELENON):c.729G>A (p.Pro243=) rs139020143 0.00131
NM_133642.5(LARGE1):c.*100C>A rs567278765 0.00131
NM_173660.5(DOK7):c.1008G>A (p.Ser336=) rs185050737 0.00131
NM_001849.4(COL6A2):c.2607C>T (p.Asp869=) rs150219725 0.00130
NM_001848.3(COL6A1):c.2866G>A (p.Glu956Lys) rs149534094 0.00128
NM_001077365.2(POMT1):c.-168G>C rs556267289 0.00127
NM_001079802.2(FKTN):c.166-4A>G rs193922689 0.00125
NM_004369.4(COL6A3):c.489G>A (p.Ala163=) rs148970984 0.00125
NM_004370.6(COL12A1):c.8405C>T (p.Pro2802Leu) rs200646131 0.00125
NM_004369.4(COL6A3):c.6751C>T (p.Arg2251Trp) rs116690555 0.00124
NM_020451.3(SELENON):c.1715C>A (p.Thr572Asn) rs183272965 0.00124
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln) rs528000488 0.00124
NM_001101426.4(CRPPA):c.790-14T>C rs142414812 0.00123
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264 0.00123
NM_001849.4(COL6A2):c.2683A>C (p.Ser895Arg) rs141233891 0.00122
NM_004369.4(COL6A3):c.4090G>A (p.Val1364Met) rs35524572 0.00122
NM_000426.4(LAMA2):c.1650C>T (p.Gly550=) rs899353 0.00120
NM_003863.4(DPM2):c.64A>G (p.Thr22Ala) rs7042788 0.00120
NM_020451.3(SELENON):c.1602+14C>T rs41284307 0.00120
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn) rs142485035 0.00119
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile) rs150861748 0.00119
NM_001077365.2(POMT1):c.1486+14G>A rs142995404 0.00118
NM_001849.4(COL6A2):c.1970-3C>A rs201879417 0.00118
NM_004370.6(COL12A1):c.743T>C (p.Ile248Thr) rs199673248 0.00118
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_173660.5(DOK7):c.1507C>A (p.Pro503Thr) rs184556570 0.00117
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg) rs200710788 0.00116
NM_032237.5(POMK):c.618C>T (p.Asn206=) rs7005111 0.00116
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385 0.00114
NM_002206.3(ITGA7):c.2401G>A (p.Val801Ile) rs200397940 0.00114
NM_021971.4(GMPPB):c.1017C>T (p.Asn339=) rs147074020 0.00113
NM_173660.5(DOK7):c.831C>T (p.Ala277=) rs150549589 0.00113
NM_001848.3(COL6A1):c.2469G>A (p.Thr823=) rs146662894 0.00112
NM_001849.4(COL6A2):c.2599C>T (p.Arg867Trp) rs144484744 0.00112
NM_004369.4(COL6A3):c.9524T>C (p.Met3175Thr) rs148183839 0.00112
NM_004370.6(COL12A1):c.7898T>C (p.Val2633Ala) rs200408101 0.00111
NM_013382.7(POMT2):c.*1603C>T rs139267307 0.00111
NM_032237.5(POMK):c.886A>G (p.Ile296Val) rs6990761 0.00111
NM_001848.3(COL6A1):c.2758C>T (p.Leu920=) rs141620374 0.00110
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455 0.00110
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647 0.00109
NM_133642.5(LARGE1):c.-481G>T rs537756491 0.00109
NM_004393.6(DAG1):c.607A>T (p.Thr203Ser) rs200094365 0.00108
NM_173660.5(DOK7):c.332-43_332-18del rs781466203 0.00108
NM_013382.7(POMT2):c.*2072C>T rs558857629 0.00107
NM_004393.6(DAG1):c.278T>C (p.Ile93Thr) rs149218670 0.00106
NM_006876.3(B4GAT1):c.1161G>A (p.Glu387=) rs139287952 0.00106
NM_001849.4(COL6A2):c.1070C>G (p.Pro357Arg) rs199929757 0.00105
NM_001848.3(COL6A1):c.1336-17G>A rs185337381 0.00103
NM_004370.6(COL12A1):c.7355-9A>G rs145346828 0.00103
NM_004370.6(COL12A1):c.8421C>T (p.Arg2807=) rs371949188 0.00103
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_133642.5(LARGE1):c.408+8G>A rs141818070 0.00103
NM_001849.4(COL6A2):c.115+6del rs578127995 0.00102
NM_013382.7(POMT2):c.1593G>A (p.Leu531=) rs147934334 0.00102
NM_133642.5(LARGE1):c.893-17C>G rs139572378 0.00102
NM_173660.5(DOK7):c.641C>T (p.Pro214Leu) rs147760280 0.00102
NM_001101426.4(CRPPA):c.790-11C>T rs141363557 0.00101
NM_001849.4(COL6A2):c.2503G>A (p.Val835Ile) rs117668143 0.00101
NM_001849.4(COL6A2):c.492C>T (p.His164=) rs140929054 0.00101
NM_004370.6(COL12A1):c.7990A>G (p.Ile2664Val) rs41266763 0.00101
NM_004370.6(COL12A1):c.8179-10A>G rs142509363 0.00101
NM_021971.4(GMPPB):c.640+11G>A rs191912441 0.00101
NM_133642.5(LARGE1):c.1092C>T (p.Thr364=) rs144216539 0.00100
NM_001849.4(COL6A2):c.2751G>T (p.Val917=) rs111341650 0.00099
NM_032237.5(POMK):c.882G>A (p.Gly294=) rs56282240 0.00099
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053 0.00098
NM_173660.5(DOK7):c.331+9C>T rs370879328 0.00098
NM_173660.5(DOK7):c.816C>G (p.His272Gln) rs115614731 0.00098
NM_001849.4(COL6A2):c.2423-11C>T rs199952790 0.00096
NM_001849.4(COL6A2):c.2484G>A (p.Thr828=) rs147199350 0.00096
NM_004369.4(COL6A3):c.2292C>T (p.Asn764=) rs116066149 0.00096
NM_004369.4(COL6A3):c.7007C>T (p.Pro2336Leu) rs202092407 0.00096
NM_004370.6(COL12A1):c.6641A>G (p.Gln2214Arg) rs41269303 0.00096
NM_004369.4(COL6A3):c.4169C>T (p.Ser1390Leu) rs115548605 0.00095
NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp) rs143502850 0.00093
NM_133642.5(LARGE1):c.-271G>A rs185068235 0.00093
NM_032806.6(POMGNT2):c.153C>T (p.Ile51=) rs149543151 0.00092
NM_133642.5(LARGE1):c.1071T>C (p.Asn357=) rs146552975 0.00092
NM_000426.4(LAMA2):c.9211+6T>C rs201375881 0.00091
NM_001077365.2(POMT1):c.*182T>C rs535816758 0.00091
NM_001849.4(COL6A2):c.288C>T (p.Tyr96=) rs61735833 0.00091
NM_004393.6(DAG1):c.2082C>T (p.Asn694=) rs146453412 0.00091
NM_002206.3(ITGA7):c.1008C>T (p.Asp336=) rs145114073 0.00090
NM_004369.4(COL6A3):c.91+11G>C rs372744024 0.00089
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=) rs140553130 0.00088
NM_001101426.4(CRPPA):c.1251+16A>T rs187344556 0.00088
NM_002206.3(ITGA7):c.139G>A (p.Glu47Lys) rs77929806 0.00088
NM_005198.5(CHKB):c.670A>C (p.Asn224His) rs149858290 0.00088
NM_001849.4(COL6A2):c.568G>A (p.Val190Met) rs150877061 0.00087
NM_002206.3(ITGA7):c.791-7C>T rs144699549 0.00087
NM_001849.4(COL6A2):c.2796G>A (p.Pro932=) rs373274913 0.00086
NM_004370.6(COL12A1):c.8753-19G>A rs185465645 0.00086
NM_005198.5(CHKB):c.14C>T (p.Ala5Val) rs199703765 0.00086
NM_005198.5(CHKB):c.737-7C>T rs192728067 0.00086
NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu) rs104894680 0.00086
NM_020451.3(SELENON):c.1596C>T (p.Gly532=) rs149623434 0.00085
NM_001079802.2(FKTN):c.681G>A (p.Leu227=) rs142604625 0.00084
NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys) rs150098077 0.00083
NM_002206.3(ITGA7):c.1606C>T (p.Leu536Phe) rs149028067 0.00083
NM_004370.6(COL12A1):c.4958-7A>C rs1332779 0.00083
NM_013382.7(POMT2):c.*758G>A rs371632843 0.00083
NM_013382.7(POMT2):c.1045C>T (p.Arg349Trp) rs141339355 0.00083
NM_004369.4(COL6A3):c.8636C>T (p.Thr2879Met) rs150907698 0.00082
NM_001848.3(COL6A1):c.2642C>T (p.Thr881Met) rs150432347 0.00081
NM_002206.3(ITGA7):c.2651A>T (p.Glu884Val) rs149963176 0.00081
NM_032806.6(POMGNT2):c.1388G>A (p.Arg463His) rs143394182 0.00081
NM_133642.5(LARGE1):c.2001C>T (p.Cys667=) rs116734942 0.00081
NM_001848.3(COL6A1):c.350T>C (p.Val117Ala) rs138899581 0.00080
NM_001848.3(COL6A1):c.996C>T (p.Gly332=) rs11702055 0.00080
NM_001849.4(COL6A2):c.3025G>A (p.Gly1009Ser) rs35887009 0.00080
NM_032237.5(POMK):c.20A>G (p.Asn7Ser) rs143957574 0.00080
NM_001848.3(COL6A1):c.381C>T (p.Thr127=) rs75180385 0.00078
NM_001077365.2(POMT1):c.986+9A>G rs202095070 0.00077
NM_001849.4(COL6A2):c.2882C>T (p.Ala961Val) rs138674440 0.00077
NM_003863.3(DPM2):c.-587C>T rs566910080 0.00077
NM_004369.4(COL6A3):c.4117G>A (p.Ala1373Thr) rs112181324 0.00077
NM_001848.3(COL6A1):c.1584G>A (p.Pro528=) rs139243418 0.00076
NM_001848.3(COL6A1):c.2968A>C (p.Lys990Gln) rs141663473 0.00076
NM_004369.4(COL6A3):c.1024G>A (p.Val342Met) rs111402193 0.00076
NM_004369.4(COL6A3):c.6138C>T (p.Ile2046=) rs115401779 0.00076
NM_017739.4(POMGNT1):c.*34G>A rs200540049 0.00076
NM_170707.4(LMNA):c.1489-16C>G rs201379016 0.00076
NM_002206.3(ITGA7):c.1659C>G (p.Pro553=) rs144052152 0.00075
NM_002206.3(ITGA7):c.2293A>G (p.Ile765Val) rs148641361 0.00075
NM_004369.4(COL6A3):c.5610C>A (p.Ser1870Arg) rs113153193 0.00075
NM_004369.4(COL6A3):c.775G>A (p.Ala259Thr) rs141609058 0.00074
NM_004393.6(DAG1):c.2520T>C (p.Thr840=) rs149564053 0.00074
NM_152490.5(B3GALNT2):c.1178G>A (p.Arg393Gln) rs140708018 0.00074
NM_002206.3(ITGA7):c.3203C>T (p.Ala1068Val) rs139136931 0.00073
NM_001848.3(COL6A1):c.984C>T (p.Asp328=) rs781038607 0.00072
NM_004369.4(COL6A3):c.7849G>A (p.Asp2617Asn) rs138285547 0.00072
NM_004370.6(COL12A1):c.2357C>T (p.Thr786Met) rs148810173 0.00072
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn) rs117209107 0.00072
NM_000426.4(LAMA2):c.1400A>G (p.Lys467Arg) rs138162760 0.00071
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=) rs147143094 0.00071
NM_002206.3(ITGA7):c.1828G>A (p.Gly610Arg) rs150583010 0.00071
NM_004369.4(COL6A3):c.1214T>C (p.Phe405Ser) rs114549120 0.00071
NM_004370.6(COL12A1):c.2711-15T>C rs74331327 0.00071
NM_004370.6(COL12A1):c.7140G>A (p.Thr2380=) rs200230227 0.00071
NM_004370.6(COL12A1):c.997+14G>A rs201998466 0.00071
NM_024301.5(FKRP):c.904G>A (p.Gly302Ser) rs762283381 0.00071
NM_001848.3(COL6A1):c.1708G>A (p.Ala570Thr) rs144358858 0.00070
NM_004370.6(COL12A1):c.8941+18C>T rs368092763 0.00070
NM_020451.3(SELENON):c.1623C>T (p.Asn541=) rs199911454 0.00070
NM_133642.5(LARGE1):c.1962G>A (p.Glu654=) rs141089495 0.00070
NM_152490.5(B3GALNT2):c.276C>T (p.Phe92=) rs114039725 0.00070
NM_001079802.2(FKTN):c.*1010G>A rs144159266 0.00068
NM_001101426.4(CRPPA):c.1218T>G (p.Ile406Met) rs202011820 0.00068
NM_001848.3(COL6A1):c.981C>T (p.Ile327=) rs138401567 0.00068
NM_001849.4(COL6A2):c.1761C>T (p.Pro587=) rs146311719 0.00068
NM_013382.7(POMT2):c.-142C>T rs886050827 0.00068
NM_173660.5(DOK7):c.1171G>A (p.Gly391Arg) rs144158112 0.00068
NM_000426.4(LAMA2):c.946G>A (p.Asp316Asn) rs141340479 0.00067
NM_004370.6(COL12A1):c.6062G>A (p.Arg2021Gln) rs34438461 0.00067
NM_004370.6(COL12A1):c.9006C>T (p.Pro3002=) rs184663595 0.00067
NM_032806.6(POMGNT2):c.488A>G (p.Asn163Ser) rs140389725 0.00067
NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr) rs34505698 0.00066
NM_000426.4(LAMA2):c.6268+5G>C rs182064878 0.00066
NM_002206.3(ITGA7):c.1722C>A (p.Ala574=) rs142311782 0.00066
NM_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln) rs148038440 0.00066
NM_013382.7(POMT2):c.1935C>T (p.Leu645=) rs141193672 0.00066
NM_024301.5(FKRP):c.606G>A (p.Leu202=) rs140084192 0.00066
NM_032806.6(POMGNT2):c.1602C>T (p.Tyr534=) rs143832191 0.00066
NM_001848.3(COL6A1):c.1043C>T (p.Ser348Leu) rs142882745 0.00065
NM_004370.6(COL12A1):c.190+14C>G rs536848485 0.00065
NM_013382.7(POMT2):c.649G>A (p.Ala217Thr) rs144748043 0.00065
NM_003863.3(DPM2):c.-429G>T rs192275912 0.00064
NM_004369.4(COL6A3):c.9245C>G (p.Pro3082Arg) rs182976977 0.00064
NM_152490.5(B3GALNT2):c.402C>T (p.Asp134=) rs144848710 0.00064
NM_001849.4(COL6A2):c.2998A>G (p.Lys1000Glu) rs151244310 0.00063
NM_002206.3(ITGA7):c.340A>G (p.Met114Val) rs146565340 0.00063
NM_004370.6(COL12A1):c.1517C>G (p.Ala506Gly) rs189762594 0.00063
NM_173660.5(DOK7):c.202G>A (p.Gly68Ser) rs376509451 0.00063
NM_001079802.2(FKTN):c.*712C>T rs535353095 0.00062
NM_002206.3(ITGA7):c.2448G>A (p.Gln816=) rs142376332 0.00062
NM_004369.4(COL6A3):c.6310-18C>T rs112905665 0.00062
NM_013382.7(POMT2):c.1701C>G (p.Pro567=) rs151051452 0.00062
NM_024301.5(FKRP):c.969C>T (p.Arg323=) rs532054402 0.00062
NM_001077365.2(POMT1):c.2004-20C>T rs372767898 0.00061
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu) rs117583120 0.00061
NM_002206.3(ITGA7):c.537G>A (p.Gly179=) rs145463677 0.00061
NM_003863.3(DPM2):c.*627C>T rs544907409 0.00061
NM_004369.4(COL6A3):c.3223C>T (p.Arg1075Trp) rs201962257 0.00061
NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val) rs142851023 0.00061
NM_004370.6(COL12A1):c.8185G>A (p.Glu2729Lys) rs200693552 0.00061
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile) rs142299878 0.00061
NM_017739.4(POMGNT1):c.453G>A (p.Thr151=) rs146121135 0.00061
NM_020451.3(SELENON):c.1282-10G>A rs556910756 0.00060
NM_024301.5(FKRP):c.636G>A (p.Ala212=) rs370099812 0.00060
NM_001849.4(COL6A2):c.2610C>T (p.Asp870=) rs116817879 0.00059
NM_006876.3(B4GAT1):c.69G>C (p.Ala23=) rs146812867 0.00059
NM_021971.4(GMPPB):c.951+9G>A rs55816606 0.00059
NM_032806.6(POMGNT2):c.561C>T (p.His187=) rs147429438 0.00059
NM_133642.5(LARGE1):c.-194G>A rs530725597 0.00059
NM_173660.5(DOK7):c.1020C>T (p.Ile340=) rs370838856 0.00059
NM_004369.4(COL6A3):c.7685T>C (p.Val2562Ala) rs143631346 0.00058
NM_032806.6(POMGNT2):c.1219C>T (p.Arg407Trp) rs138480528 0.00058
NM_001079802.2(FKTN):c.-77A>G rs188804693 0.00057
NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys) rs137964147 0.00057
NM_001848.3(COL6A1):c.993C>T (p.Asp331=) rs373948031 0.00057
NM_001849.4(COL6A2):c.1437T>C (p.Ala479=) rs149077114 0.00057
NM_004369.4(COL6A3):c.292A>T (p.Thr98Ser) rs76646066 0.00057
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_024301.5(FKRP):c.531G>A (p.Glu177=) rs768007208 0.00057
NM_032237.5(POMK):c.565A>G (p.Ile189Val) rs149297443 0.00057
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys) rs116164106 0.00057
NM_001101426.4(CRPPA):c.222G>A (p.Arg74=) rs769058832 0.00056
NM_013382.7(POMT2):c.1537A>G (p.Asn513Asp) rs117173425 0.00056
NM_001079802.2(FKTN):c.*100G>A rs542491025 0.00055
NM_032806.6(POMGNT2):c.1740G>A (p.Thr580=) rs148890110 0.00055
NM_001848.3(COL6A1):c.1525-18G>A rs112502822 0.00054
NM_004369.4(COL6A3):c.3879T>G (p.Asp1293Glu) rs74425496 0.00054
NM_004370.6(COL12A1):c.7223C>T (p.Thr2408Met) rs141593495 0.00054
NM_020451.3(SELENON):c.415G>A (p.Ala139Thr) rs201692549 0.00054
NM_020451.3(SELENON):c.427G>A (p.Glu143Lys) rs200958015 0.00054
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618 0.00054
NM_000426.4(LAMA2):c.7250A>G (p.His2417Arg) rs147185142 0.00053
NM_001848.3(COL6A1):c.1273-4T>C rs373909354 0.00053
NM_001849.4(COL6A2):c.2462-12G>A rs369839157 0.00053
NM_004370.6(COL12A1):c.3835+4A>G rs187358458 0.00053
NM_001848.3(COL6A1):c.997G>A (p.Val333Met) rs201525908 0.00052
NM_001849.4(COL6A2):c.791G>A (p.Arg264His) rs148029276 0.00052
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg) rs148975262 0.00051
NM_001848.3(COL6A1):c.1350G>A (p.Pro450=) rs144887329 0.00051
NM_001849.4(COL6A2):c.2182G>A (p.Val728Met) rs200585528 0.00051
NM_001849.4(COL6A2):c.2575G>A (p.Val859Met) rs370446082 0.00051
NM_001849.4(COL6A2):c.2661G>A (p.Glu887=) rs148249892 0.00051
NM_004369.4(COL6A3):c.5619C>T (p.His1873=) rs146355600 0.00051
NM_004370.6(COL12A1):c.1215C>T (p.Ser405=) rs374962362 0.00051
NM_004393.6(DAG1):c.1212G>A (p.Thr404=) rs139781017 0.00051
NM_013382.7(POMT2):c.229G>A (p.Asp77Asn) rs200992827 0.00051
NM_170707.4(LMNA):c.-128T>C rs80356803 0.00051
NM_001077365.2(POMT1):c.42C>T (p.Asp14=) rs150937126 0.00050
NM_001079802.2(FKTN):c.285T>C (p.His95=) rs148046151 0.00050
NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala) rs144814689 0.00050
NM_004369.4(COL6A3):c.9494-10C>T rs184617787 0.00050
NM_004370.6(COL12A1):c.7950+18T>G rs141529820 0.00049
NM_017739.4(POMGNT1):c.421-7C>A rs189274856 0.00049
NM_001849.4(COL6A2):c.1944C>T (p.Ile648=) rs148178994 0.00048
NM_001849.4(COL6A2):c.1969+17C>T rs539735984 0.00048
NM_001849.4(COL6A2):c.2982C>T (p.Ala994=) rs145460820 0.00048
NM_001849.4(COL6A2):c.928-9C>T rs200571090 0.00048
NM_004370.6(COL12A1):c.2588G>A (p.Gly863Glu) rs370388701 0.00048
NM_004393.6(DAG1):c.1022C>T (p.Thr341Ile) rs148759919 0.00048
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) rs199714523 0.00048
NM_000426.4(LAMA2):c.6269-831C>G rs371162111 0.00047
NM_004370.6(COL12A1):c.7885G>A (p.Glu2629Lys) rs147044263 0.00047
NM_001848.3(COL6A1):c.738+14C>T rs374896651 0.00046
NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln) rs147158850 0.00046
NM_004369.4(COL6A3):c.3680-5C>T rs370146203 0.00046
NM_004369.4(COL6A3):c.5139G>A (p.Gly1713=) rs114338020 0.00046
NM_152490.5(B3GALNT2):c.1368+13G>T rs372425330 0.00046
NM_173660.5(DOK7):c.296C>T (p.Ala99Val) rs138010842 0.00046
NM_001077365.2(POMT1):c.1365+15C>T rs58896330 0.00045
NM_001101426.4(CRPPA):c.808C>T (p.Leu270Phe) rs200334999 0.00045
NM_004369.4(COL6A3):c.5500+19A>G rs187794916 0.00045
NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu) rs200520924 0.00045
NM_004370.6(COL12A1):c.5585T>C (p.Val1862Ala) rs200029869 0.00045
NM_173660.5(DOK7):c.1258C>G (p.Pro420Ala) rs150497723 0.00045
NM_001848.3(COL6A1):c.3002G>A (p.Ser1001Asn) rs756372387 0.00044
NM_001849.4(COL6A2):c.426G>A (p.Thr142=) rs149480738 0.00044
NM_002206.3(ITGA7):c.284C>T (p.Pro95Leu) rs143749139 0.00044
NM_004369.4(COL6A3):c.7779C>T (p.Ile2593=) rs144249704 0.00044
NM_020451.3(SELENON):c.1500+7G>A rs200724231 0.00044
NM_020451.3(SELENON):c.907G>A (p.Asp303Asn) rs200712993 0.00044
NM_032237.5(POMK):c.1013T>G (p.Leu338Arg) rs200555259 0.00044
NM_032806.6(POMGNT2):c.828C>T (p.Asn276=) rs150404794 0.00044
NM_001849.4(COL6A2):c.2181G>A (p.Ala727=) rs111938213 0.00043
NM_004369.4(COL6A3):c.786C>T (p.Leu262=) rs111481402 0.00043
NM_004370.6(COL12A1):c.597A>G (p.Gln199=) rs368715192 0.00043
NM_013382.7(POMT2):c.1404A>G (p.Lys468=) rs150491326 0.00043
NM_173660.5(DOK7):c.1029C>T (p.Gly343=) rs375877997 0.00043
NM_004370.6(COL12A1):c.3202A>G (p.Ile1068Val) rs201852681 0.00042
NM_004370.6(COL12A1):c.8831C>T (p.Pro2944Leu) rs199702595 0.00042
NM_021971.4(GMPPB):c.309T>C (p.Pro103=) rs147516683 0.00042
NM_001079802.2(FKTN):c.*2910C>A rs148937517 0.00041
NM_004369.4(COL6A3):c.2205C>T (p.Gly735=) rs148713779 0.00041
NM_004369.4(COL6A3):c.3419C>T (p.Thr1140Met) rs201131900 0.00041
NM_004369.4(COL6A3):c.4103C>T (p.Thr1368Met) rs116505603 0.00041
NM_004369.4(COL6A3):c.4888C>T (p.Pro1630Ser) rs145560772 0.00041
NM_004370.6(COL12A1):c.7690C>T (p.Pro2564Ser) rs199724285 0.00041
NM_006876.3(B4GAT1):c.1146C>G (p.Phe382Leu) rs143223962 0.00041
NM_013382.7(POMT2):c.2086C>A (p.Pro696Thr) rs76700503 0.00041
NM_013382.7(POMT2):c.656+16C>G rs200230662 0.00041
NM_133642.5(LARGE1):c.409-19C>T rs374692757 0.00041
NM_001848.3(COL6A1):c.1015T>C (p.Tyr339His) rs186775751 0.00040
NM_004370.6(COL12A1):c.5221G>A (p.Glu1741Lys) rs200201449 0.00040
NM_032806.6(POMGNT2):c.239G>A (p.Arg80His) rs146511234 0.00040
NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys) rs192317605 0.00039
NM_001079802.2(FKTN):c.*1249C>T rs79589823 0.00039
NM_004369.4(COL6A3):c.1056C>T (p.Leu352=) rs78365682 0.00039
NM_004369.4(COL6A3):c.1248G>A (p.Leu416=) rs150219857 0.00039
NM_004369.4(COL6A3):c.9017A>G (p.Lys3006Arg) rs2270668 0.00039
NM_004370.6(COL12A1):c.1152T>C (p.Pro384=) rs200496785 0.00039
NM_004370.6(COL12A1):c.1892-7_1892-6del rs1491398037 0.00039
NM_004370.6(COL12A1):c.5085A>G (p.Ser1695=) rs190018580 0.00039
NM_013382.7(POMT2):c.1786-18A>G rs193173216 0.00039
NM_133642.5(LARGE1):c.*823_*824dup rs140177888 0.00039
NM_001848.3(COL6A1):c.1776+11C>T rs376317834 0.00038
NM_001848.3(COL6A1):c.2464+11C>T rs202074876 0.00038
NM_001848.3(COL6A1):c.2857G>A (p.Ala953Thr) rs150378645 0.00038
NM_001848.3(COL6A1):c.349G>A (p.Val117Met) rs150686304 0.00038
NM_003863.4(DPM2):c.*553G>A rs886063480 0.00038
NM_004369.4(COL6A3):c.1131C>T (p.Phe377=) rs189772397 0.00038
NM_013382.7(POMT2):c.2148-17C>G rs201328470 0.00038
NM_017739.4(POMGNT1):c.534+15C>T rs141676863 0.00038
NM_032806.6(POMGNT2):c.465C>T (p.Ile155=) rs140578716 0.00038
NM_173660.5(DOK7):c.577A>G (p.Ser193Gly) rs139133047 0.00038
NM_001077365.2(POMT1):c.*613C>T rs551579745 0.00037
NM_004369.4(COL6A3):c.5609G>A (p.Ser1870Asn) rs114804083 0.00037
NM_004369.4(COL6A3):c.5839-3C>T rs112825341 0.00037
NM_173660.5(DOK7):c.332-5C>T rs375468951 0.00037
NM_001848.3(COL6A1):c.1096G>A (p.Ala366Thr) rs183994910 0.00036
NM_002206.3(ITGA7):c.2713-8G>A rs372485093 0.00036
NM_004369.4(COL6A3):c.3755G>A (p.Arg1252His) rs201314411 0.00036
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys) rs200128474 0.00036
NM_032806.6(POMGNT2):c.119G>A (p.Arg40Gln) rs146229269 0.00036
NM_032806.6(POMGNT2):c.438G>A (p.Pro146=) rs375314883 0.00036
NM_152490.5(B3GALNT2):c.369T>C (p.Asn123=) rs149734145 0.00036
NM_173660.5(DOK7):c.1225C>T (p.Arg409Cys) rs199606134 0.00036
NM_173660.5(DOK7):c.972G>A (p.Pro324=) rs373041663 0.00036
NM_001849.4(COL6A2):c.2995G>A (p.Glu999Lys) rs142296092 0.00035
NM_004369.4(COL6A3):c.8007C>T (p.His2669=) rs528369978 0.00035
NM_004370.6(COL12A1):c.8639A>G (p.His2880Arg) rs185171880 0.00035
NM_021971.4(GMPPB):c.729G>A (p.Arg243=) rs370448223 0.00035
NM_133642.5(LARGE1):c.*796C>T rs144150303 0.00035
NM_001848.3(COL6A1):c.2187C>T (p.Asp729=) rs369502543 0.00034
NM_001849.4(COL6A2):c.1970-10C>T rs373369963 0.00034
NM_001849.4(COL6A2):c.2658C>T (p.Gly886=) rs143168888 0.00034
NM_004369.4(COL6A3):c.3088G>A (p.Val1030Met) rs116238578 0.00034
NM_004370.6(COL12A1):c.1188A>C (p.Ala396=) rs202153313 0.00034
NM_004370.6(COL12A1):c.132A>G (p.Ser44=) rs201454637 0.00034
NM_004370.6(COL12A1):c.5635G>A (p.Ala1879Thr) rs184585202 0.00034
NM_004370.6(COL12A1):c.6281C>A (p.Thr2094Asn) rs201567848 0.00034
NM_004370.6(COL12A1):c.8320-19T>C rs369006332 0.00034
NM_005198.5(CHKB):c.597C>T (p.Ile199=) rs146409721 0.00034
NM_013382.7(POMT2):c.*196G>A rs773072355 0.00034
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=) rs138330966 0.00034
NM_001848.3(COL6A1):c.1675-16C>T rs200659458 0.00033
NM_001849.4(COL6A2):c.2944A>G (p.Met982Val) rs190664941 0.00033
NM_001849.4(COL6A2):c.988G>A (p.Asp330Asn) rs139399166 0.00033
NM_002206.3(ITGA7):c.671G>C (p.Gly224Ala) rs537950420 0.00033
NM_002206.3(ITGA7):c.999-4A>G rs370741662 0.00033
NM_004369.4(COL6A3):c.5712C>T (p.Asp1904=) rs151234107 0.00033
NM_004369.4(COL6A3):c.9339G>A (p.Lys3113=) rs113422196 0.00033
NM_004370.6(COL12A1):c.3954A>T (p.Ala1318=) rs200346099 0.00033
NM_004370.6(COL12A1):c.6752G>A (p.Arg2251His) rs151324784 0.00033
NM_004370.6(COL12A1):c.7853C>T (p.Thr2618Met) rs201988277 0.00033
NM_013382.7(POMT2):c.*1805G>A rs184473107 0.00033
NM_017739.4(POMGNT1):c.549C>T (p.Phe183=) rs140724142 0.00033
NM_032806.6(POMGNT2):c.1162C>T (p.Leu388Phe) rs139060322 0.00033
NM_133642.5(LARGE1):c.*998A>G rs886057455 0.00033
NM_001079802.2(FKTN):c.25G>T (p.Val9Phe) rs145387221 0.00032
NM_001848.3(COL6A1):c.666C>T (p.Arg222=) rs372581026 0.00032
NM_001849.4(COL6A2):c.225G>T (p.Pro75=) rs143678454 0.00032
NM_002206.3(ITGA7):c.1765A>C (p.Ile589Leu) rs200065922 0.00032
NM_004369.4(COL6A3):c.9148G>A (p.Ala3050Thr) rs114596320 0.00032
NM_152490.5(B3GALNT2):c.575G>A (p.Arg192His) rs201345883 0.00032
NM_152490.5(B3GALNT2):c.865C>T (p.Leu289Phe) rs185213208 0.00032
NM_153741.2(DPM3):c.55G>T (p.Val19Leu) rs141877691 0.00032
NM_173660.5(DOK7):c.313C>T (p.Arg105Cys) rs115883468 0.00032
NM_001077365.2(POMT1):c.855+6T>C rs200692465 0.00031
NM_001378328.1(CELSR1):c.1210G>A (p.Glu404Lys) rs201107590 0.00031
NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly) rs149338158 0.00031
NM_001848.3(COL6A1):c.2067-6A>G rs113876477 0.00031
NM_001848.3(COL6A1):c.531C>T (p.Asn177=) rs767176038 0.00031
NM_001849.4(COL6A2):c.1117-7C>A rs202094835 0.00031
NM_001849.4(COL6A2):c.528G>A (p.Gln176=) rs377585812 0.00031
NM_002206.3(ITGA7):c.2710C>T (p.Leu904=) rs200149396 0.00031
NM_002206.3(ITGA7):c.999-15T>C rs201174804 0.00031
NM_004369.4(COL6A3):c.4399A>G (p.Asn1467Asp) rs138049094 0.00031
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr) rs114322958 0.00031
NM_004369.4(COL6A3):c.6654G>A (p.Pro2218=) rs147537071 0.00031
NM_004369.4(COL6A3):c.776C>T (p.Ala259Val) rs149924028 0.00031
NM_004369.4(COL6A3):c.8243C>T (p.Pro2748Leu) rs115595706 0.00031
NM_004369.4(COL6A3):c.8724C>T (p.Ala2908=) rs114684687 0.00031
NM_004370.6(COL12A1):c.922A>T (p.Ile308Phe) rs116980451 0.00031
NM_021971.4(GMPPB):c.1065G>A (p.Glu355=) rs143218268 0.00031
NM_024301.5(FKRP):c.1306C>T (p.Arg436Trp) rs144236975 0.00031
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00031
NM_032806.6(POMGNT2):c.780A>G (p.Ser260=) rs371749889 0.00031
NM_173660.5(DOK7):c.975G>A (p.Arg325=) rs370661591 0.00031
NM_001077365.2(POMT1):c.1175+16G>A rs371908251 0.00030
NM_001301071.2(DOK7):c.1594G>A (p.Glu532Lys) rs754345718 0.00030
NM_004369.4(COL6A3):c.1478T>C (p.Val493Ala) rs116794756 0.00030
NM_004369.4(COL6A3):c.8193A>C (p.Pro2731=) rs140441798 0.00030
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_173660.5(DOK7):c.567G>A (p.Gly189=) rs141808910 0.00030
NM_001077365.2(POMT1):c.1698+10C>A rs184131819 0.00029
NM_001848.3(COL6A1):c.1399-3C>T rs200095847 0.00029
NM_001849.4(COL6A2):c.1522-9C>T rs371576207 0.00029
NM_001849.4(COL6A2):c.2608G>A (p.Asp870Asn) rs145785230 0.00029
NM_002206.3(ITGA7):c.1681G>A (p.Val561Met) rs150089409 0.00029
NM_002206.3(ITGA7):c.2035C>A (p.Leu679Met) rs142326016 0.00029
NM_004369.4(COL6A3):c.4671C>T (p.Ser1557=) rs116760648 0.00029
NM_004369.4(COL6A3):c.5833G>C (p.Val1945Leu) rs113332380 0.00029
NM_004369.4(COL6A3):c.6151C>A (p.Pro2051Thr) rs370397767 0.00029
NM_004369.4(COL6A3):c.6237C>T (p.Asn2079=) rs34390834 0.00029
NM_004369.4(COL6A3):c.6618C>T (p.Pro2206=) rs201814201 0.00029
NM_004369.4(COL6A3):c.9061G>C (p.Asp3021His) rs144054353 0.00029
NM_004369.4(COL6A3):c.9498C>T (p.Leu3166=) rs150376179 0.00029
NM_020451.3(SELENON):c.1428G>A (p.Ser476=) rs41284305 0.00029
NM_020451.3(SELENON):c.716G>A (p.Arg239His) rs199709671 0.00029
NM_133642.5(LARGE1):c.*798G>A rs778063005 0.00029
NM_152490.5(B3GALNT2):c.1215C>T (p.Pro405=) rs145518904 0.00029
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812 0.00029
NM_173660.5(DOK7):c.1425G>T (p.Trp475Cys) rs777626370 0.00029
NM_000426.4(LAMA2):c.3244C>T (p.His1082Tyr) rs146490004 0.00028
NM_001849.4(COL6A2):c.2585G>A (p.Arg862Gln) rs367658663 0.00028
NM_004369.4(COL6A3):c.1150G>A (p.Ala384Thr) rs374267444 0.00028
NM_004369.4(COL6A3):c.1623C>T (p.Ala541=) rs114144694 0.00028
NM_020451.3(SELENON):c.1092+16G>C rs199937216 0.00028
NM_020451.3(SELENON):c.4G>T (p.Gly2Cys) rs982364753 0.00028
NM_032237.5(POMK):c.759C>T (p.Phe253=) rs201232766 0.00028
NM_152490.5(B3GALNT2):c.1151+14T>C rs376973193 0.00028
NM_153741.2(DPM3):c.112C>T (p.Leu38=) rs368529799 0.00028
NM_001848.3(COL6A1):c.1378G>A (p.Val460Ile) rs375452881 0.00027
NM_001849.4(COL6A2):c.1765C>T (p.Leu589Phe) rs375966817 0.00027
NM_003863.3(DPM2):c.-211T>G rs187834148 0.00027
NM_004369.4(COL6A3):c.3445C>T (p.Arg1149Trp) rs113360085 0.00027
NM_004369.4(COL6A3):c.7029+10C>T rs376525317 0.00027
NM_004369.4(COL6A3):c.7113C>T (p.Gly2371=) rs375729592 0.00027
NM_004369.4(COL6A3):c.7359G>A (p.Glu2453=) rs114199044 0.00027
NM_004370.6(COL12A1):c.8925A>G (p.Gly2975=) rs190820180 0.00027
NM_013382.7(POMT2):c.1195C>T (p.Pro399Ser) rs200821647 0.00027
NM_013382.7(POMT2):c.66C>T (p.Gly22=) rs200670377 0.00027
NM_133642.5(LARGE1):c.391G>A (p.Val131Ile) rs56239539 0.00027
NM_173660.5(DOK7):c.208C>A (p.Pro70Thr) rs539190403 0.00027
NM_173660.5(DOK7):c.839G>A (p.Arg280Gln) rs144269117 0.00027
NM_000426.4(LAMA2):c.5509G>A (p.Asp1837Asn) rs749423866 0.00026
NM_000426.4(LAMA2):c.6229G>A (p.Ala2077Thr) rs142264176 0.00026
NM_000426.4(LAMA2):c.6832A>G (p.Met2278Val) rs146854942 0.00026
NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=) rs138902646 0.00026
NM_001079802.2(FKTN):c.*1843A>T rs117283748 0.00026
NM_001079802.2(FKTN):c.*3516T>C rs1041010308 0.00026
NM_001079802.2(FKTN):c.910+13C>T rs375259473 0.00026
NM_001101426.4(CRPPA):c.999T>C (p.Asp333=) rs376909665 0.00026
NM_001848.3(COL6A1):c.1003-10C>T rs182440627 0.00026
NM_001848.3(COL6A1):c.1602C>T (p.Pro534=) rs143755280 0.00026
NM_001848.3(COL6A1):c.3029A>G (p.Gln1010Arg) rs141605607 0.00026
NM_001849.4(COL6A2):c.*5G>A rs377195134 0.00026
NM_001849.4(COL6A2):c.2423-9C>G rs368725753 0.00026
NM_001849.4(COL6A2):c.2517C>T (p.Asp839=) rs113002150 0.00026
NM_001849.4(COL6A2):c.84G>A (p.Pro28=) rs140890046 0.00026
NM_002206.3(ITGA7):c.2844+19C>T rs141542046 0.00026
NM_004369.4(COL6A3):c.14G>A (p.Arg5Gln) rs765276422 0.00026
NM_004369.4(COL6A3):c.1572C>T (p.Tyr524=) rs115973206 0.00026
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile) rs78427077 0.00026
NM_004369.4(COL6A3):c.3531C>G (p.Thr1177=) rs143705718 0.00026
NM_004369.4(COL6A3):c.4047C>T (p.Asp1349=) rs115893145 0.00026
NM_004369.4(COL6A3):c.4900+9C>T rs117345850 0.00026
NM_004369.4(COL6A3):c.5337G>A (p.Arg1779=) rs756243022 0.00026
NM_004369.4(COL6A3):c.6180C>T (p.Tyr2060=) rs115130936 0.00026
NM_004369.4(COL6A3):c.6592-16A>T rs181698279 0.00026
NM_004369.4(COL6A3):c.7092+20T>C rs115681406 0.00026
NM_004369.4(COL6A3):c.8966-3C>A rs190667494 0.00026
NM_004369.4(COL6A3):c.9351C>T (p.Asp3117=) rs148821986 0.00026
NM_004369.4(COL6A3):c.9494-2A>G rs142546062 0.00026
NM_004370.6(COL12A1):c.4613A>G (p.Asn1538Ser) rs115246424 0.00026
NM_004370.6(COL12A1):c.6120C>T (p.Ser2040=) rs200570792 0.00026
NM_004370.6(COL12A1):c.6256C>A (p.Gln2086Lys) rs562076616 0.00026
NM_004370.6(COL12A1):c.8622A>G (p.Pro2874=) rs368321891 0.00026
NM_005198.5(CHKB):c.38C>T (p.Ala13Val) rs779585255 0.00026
NM_013382.7(POMT2):c.1944A>G (p.Thr648=) rs148146976 0.00026
NM_013382.7(POMT2):c.806G>A (p.Ser269Asn) rs375217032 0.00026
NM_017739.4(POMGNT1):c.1284+9G>C rs565797493 0.00026
NM_024301.5(FKRP):c.1003G>A (p.Ala335Thr) rs776947530 0.00026
NM_032806.6(POMGNT2):c.1113C>T (p.Pro371=) rs772146015 0.00026
NM_032806.6(POMGNT2):c.71G>A (p.Arg24Gln) rs139245562 0.00026
NM_133642.5(LARGE1):c.535G>A (p.Glu179Lys) rs370128137 0.00026
NM_173660.5(DOK7):c.1205G>A (p.Arg402Gln) rs370039804 0.00026
NM_173660.5(DOK7):c.32T>C (p.Val11Ala) rs375168516 0.00026
NM_001079802.2(FKTN):c.102A>C (p.Thr34=) rs138740640 0.00025
NM_001848.3(COL6A1):c.1776+13C>T rs201734661 0.00025
NM_001848.3(COL6A1):c.2694G>A (p.Thr898=) rs372931456 0.00025
NM_001848.3(COL6A1):c.2856C>T (p.Pro952=) rs140427635 0.00025
NM_001848.3(COL6A1):c.957+6C>T rs374926748 0.00025
NM_002206.3(ITGA7):c.1404C>A (p.Leu468=) rs142248173 0.00025
NM_002206.3(ITGA7):c.3268C>T (p.Gln1090Ter) rs200390529 0.00025
NM_002206.3(ITGA7):c.799A>G (p.Ile267Val) rs201469044 0.00025
NM_004369.4(COL6A3):c.1146G>A (p.Gln382=) rs368800027 0.00025
NM_004369.4(COL6A3):c.9128G>A (p.Arg3043His) rs552651651 0.00025
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala) rs55997127 0.00025
NM_133642.5(LARGE1):c.178C>T (p.Arg60Trp) rs142135345 0.00025
NM_133642.5(LARGE1):c.1878-11G>T rs200819807 0.00025
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_000426.4(LAMA2):c.4010A>G (p.His1337Arg) rs139739075 0.00024
NM_000426.4(LAMA2):c.4205G>A (p.Arg1402His) rs144830879 0.00024
NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val) rs199682341 0.00024
NM_001077365.2(POMT1):c.1671T>C (p.Ile557=) rs200969468 0.00024
NM_001848.3(COL6A1):c.1122C>T (p.Gly374=) rs373535692 0.00024
NM_001848.3(COL6A1):c.2045G>A (p.Arg682Gln) rs148962954 0.00024
NM_001849.4(COL6A2):c.1605C>T (p.Pro535=) rs377476546 0.00024
NM_001849.4(COL6A2):c.2937C>T (p.Asp979=) rs150716220 0.00024
NM_001849.4(COL6A2):c.628G>A (p.Glu210Lys) rs113017484 0.00024
NM_002206.3(ITGA7):c.2087C>T (p.Ser696Leu) rs76938320 0.00024
NM_002206.3(ITGA7):c.609C>T (p.Ala203=) rs140554289 0.00024
NM_003863.3(DPM2):c.-612G>C rs886063487 0.00024
NM_004369.4(COL6A3):c.1538G>A (p.Arg513Gln) rs139498556 0.00024
NM_004369.4(COL6A3):c.3680-4G>A rs376123972 0.00024
NM_004369.4(COL6A3):c.7114G>A (p.Asp2372Asn) rs142002241 0.00024
NM_004369.4(COL6A3):c.7513G>A (p.Gly2505Arg) rs545819982 0.00024
NM_004369.4(COL6A3):c.8978G>A (p.Arg2993His) rs201888442 0.00024
NM_004370.6(COL12A1):c.3534C>T (p.Ser1178=) rs747982811 0.00024
NM_004370.6(COL12A1):c.5677G>A (p.Gly1893Arg) rs373739940 0.00024
NM_004370.6(COL12A1):c.6068-17G>T rs200347973 0.00024
NM_004370.6(COL12A1):c.8548A>G (p.Met2850Val) rs369104842 0.00024
NM_004393.6(DAG1):c.920C>G (p.Pro307Arg) rs374092106 0.00024
NM_013382.7(POMT2):c.*622C>G rs886050819 0.00024
NM_017739.4(POMGNT1):c.1649+19G>A rs200158493 0.00024
NM_017739.4(POMGNT1):c.1786-6C>T rs202028128 0.00024
NM_021971.4(GMPPB):c.562-9C>A rs183240200 0.00024
NM_021971.4(GMPPB):c.702G>A (p.Gln234=) rs368795315 0.00024
NM_152490.5(B3GALNT2):c.81G>T (p.Pro27=) rs766891631 0.00024
NM_173660.5(DOK7):c.54+23_54+24insA rs759348603 0.00024
NM_173660.5(DOK7):c.668G>A (p.Gly223Glu) rs146895834 0.00024
NM_001077365.2(POMT1):c.539+19C>T rs376642449 0.00023
NM_001077365.2(POMT1):c.629C>T (p.Thr210Met) rs377037072 0.00023
NM_001848.3(COL6A1):c.2464+19G>A rs200297915 0.00023
NM_004370.6(COL12A1):c.607C>A (p.Leu203Ile) rs375673671 0.00023
NM_004370.6(COL12A1):c.6448T>C (p.Tyr2150His) rs200450866 0.00023
NM_013382.7(POMT2):c.1691C>T (p.Thr564Met) rs142445941 0.00023
NM_024301.5(FKRP):c.717C>T (p.Thr239=) rs762375285 0.00023
NM_032806.6(POMGNT2):c.77G>A (p.Arg26His) rs143667339 0.00023
NM_133642.5(LARGE1):c.*155C>T rs551266967 0.00023
NM_133642.5(LARGE1):c.492-11A>G rs142978441 0.00023
NM_170707.4(LMNA):c.1698+83G>A rs555844506 0.00023
NM_000426.4(LAMA2):c.5405G>T (p.Arg1802Leu) rs141235562 0.00022
NM_001101426.4(CRPPA):c.684+12G>C rs376232862 0.00022
NM_001848.3(COL6A1):c.1233C>T (p.Asp411=) rs140478280 0.00022
NM_001849.4(COL6A2):c.1762G>A (p.Gly588Ser) rs139488626 0.00022
NM_004369.4(COL6A3):c.3954C>T (p.Tyr1318=) rs375909800 0.00022
NM_004369.4(COL6A3):c.4503C>T (p.Asp1501=) rs115551245 0.00022
NM_004370.6(COL12A1):c.1892-7_1892-6insC rs34433354 0.00022
NM_004370.6(COL12A1):c.4815G>A (p.Glu1605=) rs567079114 0.00022
NM_004370.6(COL12A1):c.7800A>G (p.Thr2600=) rs370691983 0.00022
NM_004370.6(COL12A1):c.823+20T>C rs534530101 0.00022
NM_005198.5(CHKB):c.263C>T (p.Pro88Leu) rs146163970 0.00022
NM_005198.5(CHKB):c.853G>T (p.Val285Phe) rs754327744 0.00022
NM_005198.5(CHKB):c.902C>T (p.Thr301Ile) rs147485527 0.00022
NM_013382.7(POMT2):c.*2165T>C rs770272986 0.00022
NM_013382.7(POMT2):c.293A>G (p.Asn98Ser) rs368034790 0.00022
NM_020451.3(SELENON):c.1603-14G>A rs370300935 0.00022
NM_021971.4(GMPPB):c.1048G>A (p.Gly350Ser) rs184127567 0.00022
NM_024301.5(FKRP):c.885C>T (p.Arg295=) rs769005880 0.00022
NM_032806.6(POMGNT2):c.1402C>T (p.Arg468Trp) rs137873804 0.00022
NM_133642.5(LARGE1):c.651T>A (p.Ser217=) rs143547253 0.00022
NM_152490.5(B3GALNT2):c.465C>T (p.Ile155=) rs138058326 0.00022
NM_173660.5(DOK7):c.1279G>A (p.Gly427Ser) rs377555406 0.00022
NM_173660.5(DOK7):c.282C>T (p.His94=) rs377025553 0.00022
NM_173660.5(DOK7):c.846C>T (p.Thr282=) rs141147662 0.00022
NM_000426.4(LAMA2):c.8905C>T (p.Arg2969Cys) rs374888837 0.00021
NM_000426.4(LAMA2):c.8920A>T (p.Thr2974Ser) rs140202046 0.00021
NM_001077365.2(POMT1):c.1150G>A (p.Gly384Ser) rs146234177 0.00021
NM_001077365.2(POMT1):c.1439A>G (p.Tyr480Cys) rs145464516 0.00021
NM_001077365.2(POMT1):c.1614C>T (p.Asp538=) rs141933812 0.00021
NM_001077365.2(POMT1):c.789G>C (p.Leu263Phe) rs201073763 0.00021
NM_001848.3(COL6A1):c.1254C>T (p.Asp418=) rs148630223 0.00021
NM_001848.3(COL6A1):c.2614C>T (p.Arg872Trp) rs368561027 0.00021
NM_001848.3(COL6A1):c.958-10C>T rs200508160 0.00021
NM_001849.4(COL6A2):c.1585G>A (p.Glu529Lys) rs200667230 0.00021
NM_001849.4(COL6A2):c.1767C>T (p.Leu589=) rs528635866 0.00021
NM_001849.4(COL6A2):c.2422+16C>T rs372990656 0.00021
NM_001849.4(COL6A2):c.2528G>A (p.Arg843Gln) rs201736323 0.00021
NM_001849.4(COL6A2):c.2761G>A (p.Val921Met) rs398123650 0.00021
NM_001849.4(COL6A2):c.2893C>T (p.Arg965Cys) rs201188174 0.00021
NM_004369.4(COL6A3):c.1373T>A (p.Leu458Gln) rs374134397 0.00021
NM_004369.4(COL6A3):c.2231C>T (p.Pro744Leu) rs199504304 0.00021
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu) rs114284669 0.00021
NM_004369.4(COL6A3):c.759C>T (p.Thr253=) rs376087730 0.00021
NM_004370.6(COL12A1):c.4452T>C (p.Asp1484=) rs202092920 0.00021
NM_004370.6(COL12A1):c.4807C>G (p.Pro1603Ala) rs200034130 0.00021
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr) rs191233787 0.00021
NM_017739.4(POMGNT1):c.1070A>T (p.Gln357Leu) rs374871234 0.00021
NM_017739.4(POMGNT1):c.269G>A (p.Arg90His) rs139701867 0.00021
NM_020451.3(SELENON):c.1041C>T (p.Tyr347=) rs113867228 0.00021
NM_021971.4(GMPPB):c.939C>T (p.Arg313=) rs147714661 0.00021
NM_133642.5(LARGE1):c.*699G>A rs760092745 0.00021
NM_152490.5(B3GALNT2):c.410C>T (p.Ser137Leu) rs140393851 0.00021
NM_173660.5(DOK7):c.665C>T (p.Pro222Leu) rs141141719 0.00021
NM_001077365.2(POMT1):c.1116T>C (p.Pro372=) rs146945848 0.00020
NM_001848.3(COL6A1):c.2601C>T (p.Pro867=) rs200124802 0.00020
NM_001848.3(COL6A1):c.2733C>T (p.Asn911=) rs144585693 0.00020
NM_001849.4(COL6A2):c.1130G>A (p.Arg377His) rs148552966 0.00020
NM_001849.4(COL6A2):c.1522-20G>A rs368072665 0.00020
NM_001849.4(COL6A2):c.759A>G (p.Glu253=) rs140404854 0.00020
NM_001849.4(COL6A2):c.933A>T (p.Glu311Asp) rs370624136 0.00020
NM_002206.3(ITGA7):c.1023C>T (p.Ala341=) rs367953820 0.00020
NM_002206.3(ITGA7):c.1460G>A (p.Ser487Asn) rs140619961 0.00020
NM_005198.5(CHKB):c.819-18T>G rs550228390 0.00020
NM_013382.7(POMT2):c.*1252C>A rs569143920 0.00020
NM_020451.3(SELENON):c.103G>C (p.Gly35Arg) rs398124359 0.00020
NM_032237.5(POMK):c.609C>T (p.Cys203=) rs567303957 0.00020
NM_000426.4(LAMA2):c.7415G>T (p.Gly2472Val) rs200921233 0.00019
NM_001079802.2(FKTN):c.41C>T (p.Thr14Met) rs149033995 0.00019
NM_001101426.4(CRPPA):c.531C>T (p.His177=) rs376195897 0.00019
NM_001101426.4(CRPPA):c.876A>G (p.Glu292=) rs371300262 0.00019
NM_001848.3(COL6A1):c.1379T>C (p.Val460Ala) rs140735590 0.00019
NM_001848.3(COL6A1):c.1611C>T (p.Asn537=) rs200023632 0.00019
NM_001848.3(COL6A1):c.759+16G>A rs373366336 0.00019
NM_001849.4(COL6A2):c.2410G>A (p.Val804Ile) rs199896699 0.00019
NM_001849.4(COL6A2):c.2623G>A (p.Ala875Thr) rs199606147 0.00019
NM_001849.4(COL6A2):c.2961G>A (p.Thr987=) rs149845431 0.00019
NM_002206.3(ITGA7):c.1317C>T (p.Phe439=) rs200714716 0.00019
NM_002206.3(ITGA7):c.1506-10G>A rs370761565 0.00019
NM_002206.3(ITGA7):c.3287C>T (p.Thr1096Met) rs200485048 0.00019
NM_002206.3(ITGA7):c.892C>T (p.Arg298Cys) rs201594532 0.00019
NM_003863.3(DPM2):c.-523C>A rs1010662067 0.00019
NM_004369.4(COL6A3):c.1065C>T (p.Ala355=) rs115155458 0.00019
NM_004369.4(COL6A3):c.3556G>A (p.Val1186Met) rs144976132 0.00019
NM_004369.4(COL6A3):c.4146G>A (p.Ser1382=) rs114791158 0.00019
NM_004369.4(COL6A3):c.8307C>T (p.Phe2769=) rs149890179 0.00019
NM_004369.4(COL6A3):c.9444C>T (p.Asn3148=) rs144291325 0.00019
NM_004369.4(COL6A3):c.9494-7C>T rs374024399 0.00019
NM_004370.6(COL12A1):c.1644C>A (p.Ile548=) rs147111006 0.00019
NM_004370.6(COL12A1):c.3943G>A (p.Asp1315Asn) rs185615367 0.00019
NM_013382.7(POMT2):c.*2053C>A rs759715686 0.00019
NM_013382.7(POMT2):c.1397G>A (p.Arg466Gln) rs138266415 0.00019
NM_017739.4(POMGNT1):c.120+3A>G rs543271070 0.00019
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_032237.5(POMK):c.44G>A (p.Arg15Gln) rs377725187 0.00019
NM_133642.5(LARGE1):c.-343C>A rs886057467 0.00019
NM_133642.5(LARGE1):c.1675A>G (p.Met559Val) rs191368661 0.00019
NM_152490.5(B3GALNT2):c.1474G>A (p.Gly492Ser) rs772910525 0.00019
NM_152490.5(B3GALNT2):c.400G>C (p.Asp134His) rs370993648 0.00019
NM_173660.5(DOK7):c.1007C>T (p.Ser336Leu) rs377757018 0.00019
NM_173660.5(DOK7):c.1091G>A (p.Arg364Gln) rs201304841 0.00019
NM_173660.5(DOK7):c.1320C>T (p.Ala440=) rs368868378 0.00019
NM_001848.3(COL6A1):c.2662C>T (p.Arg888Trp) rs368307185 0.00018
NM_001848.3(COL6A1):c.696C>T (p.Ile232=) rs139148709 0.00018
NM_001849.4(COL6A2):c.1599C>T (p.Arg533=) rs373635709 0.00018
NM_001849.4(COL6A2):c.1674G>A (p.Ala558=) rs144334894 0.00018
NM_001849.4(COL6A2):c.2907G>A (p.Val969=) rs138004735 0.00018
NM_001849.4(COL6A2):c.828G>A (p.Pro276=) rs140790797 0.00018
NM_002206.3(ITGA7):c.1737+16T>G rs202160006 0.00018
NM_004369.4(COL6A3):c.9344C>T (p.Pro3115Leu) rs138109666 0.00018
NM_004370.6(COL12A1):c.5251+14T>C rs188210409 0.00018
NM_004370.6(COL12A1):c.5411G>A (p.Arg1804Gln) rs200091648 0.00018
NM_004370.6(COL12A1):c.5501G>A (p.Arg1834Gln) rs182768408 0.00018
NM_004393.6(DAG1):c.1829C>T (p.Ala610Val) rs537920451 0.00018
NM_020451.3(SELENON):c.980G>A (p.Arg327His) rs556232275 0.00018
NM_021971.4(GMPPB):c.129+17G>A rs375887616 0.00018
NM_133642.5(LARGE1):c.*455C>T rs886057460 0.00018
NM_173660.5(DOK7):c.54+31G>T rs762404326 0.00018
NM_000426.4(LAMA2):c.7088C>T (p.Thr2363Ile) rs371403343 0.00017
NM_000426.4(LAMA2):c.8989-12C>G rs144860334 0.00017
NM_001077365.2(POMT1):c.*614G>A rs373680261 0.00017
NM_001077365.2(POMT1):c.1175+15C>T rs200398689 0.00017
NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr) rs199498900 0.00017
NM_001848.3(COL6A1):c.2091G>A (p.Met697Ile) rs372750707 0.00017
NM_001848.3(COL6A1):c.2899A>G (p.Ile967Val) rs777671647 0.00017
NM_001848.3(COL6A1):c.3034C>T (p.Leu1012=) rs150509473 0.00017
NM_001848.3(COL6A1):c.409C>G (p.Leu137Val) rs139648899 0.00017
NM_001849.4(COL6A2):c.1967C>T (p.Thr656Ile) rs371386355 0.00017
NM_001849.4(COL6A2):c.2556C>T (p.Ala852=) rs148404291 0.00017
NM_002206.3(ITGA7):c.2844+17C>A rs752052966 0.00017
NM_004369.4(COL6A3):c.3751G>A (p.Val1251Ile) rs199646208 0.00017
NM_004369.4(COL6A3):c.4006G>A (p.Val1336Ile) rs144051775 0.00017
NM_004369.4(COL6A3):c.7051A>C (p.Ile2351Leu) rs557448772 0.00017
NM_004369.4(COL6A3):c.7401G>A (p.Ser2467=) rs377572272 0.00017
NM_004369.4(COL6A3):c.8097G>A (p.Val2699=) rs115757876 0.00017
NM_004369.4(COL6A3):c.8464+11C>T rs770508359 0.00017
NM_004369.4(COL6A3):c.8805G>A (p.Ala2935=) rs200111289 0.00017
NM_004369.4(COL6A3):c.8819C>T (p.Thr2940Met) rs200626456 0.00017
NM_004369.4(COL6A3):c.958G>A (p.Ala320Thr) rs115819851 0.00017
NM_004370.6(COL12A1):c.7008C>T (p.Asp2336=) rs377413592 0.00017
NM_004370.6(COL12A1):c.7354+10T>A rs199945254 0.00017
NM_004370.6(COL12A1):c.8336G>A (p.Arg2779His) rs190917891 0.00017
NM_004393.6(DAG1):c.1308G>A (p.Thr436=) rs143763229 0.00017
NM_004393.6(DAG1):c.1360C>T (p.Arg454Trp) rs369872091 0.00017
NM_013382.7(POMT2):c.1627C>A (p.Leu543Met) rs367552151 0.00017
NM_014254.3(RXYLT1):c.237C>G (p.His79Gln) rs200620643 0.00017
NM_017739.4(POMGNT1):c.1831C>T (p.Leu611=) rs367848204 0.00017
NM_020451.3(SELENON):c.1638C>T (p.Ile546=) rs201066183 0.00017
NM_032237.5(POMK):c.136C>T (p.Arg46Ter) rs202036744 0.00017
NM_032237.5(POMK):c.373A>T (p.Met125Leu) rs146303063 0.00017
NM_032806.6(POMGNT2):c.1304T>C (p.Leu435Pro) rs142458115 0.00017
NM_133642.5(LARGE1):c.2004G>A (p.Pro668=) rs368231947 0.00017
NM_133642.5(LARGE1):c.584G>A (p.Arg195His) rs147597912 0.00017
NM_173660.5(DOK7):c.1090C>T (p.Arg364Trp) rs577156980 0.00017
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp) rs369292604 0.00017
NM_000426.4(LAMA2):c.7057C>T (p.Arg2353Cys) rs145885540 0.00016
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala) rs144338642 0.00016
NM_001079802.2(FKTN):c.*1845G>T rs886063328 0.00016
NM_001079802.2(FKTN):c.*5356C>T rs553575648 0.00016
NM_001079802.2(FKTN):c.*71C>T rs747766931 0.00016
NM_001101426.4(CRPPA):c.693C>A (p.Asp231Glu) rs770257307 0.00016
NM_001848.3(COL6A1):c.1398+10G>A rs143438559 0.00016
NM_001848.3(COL6A1):c.1475C>T (p.Ala492Val) rs117340427 0.00016
NM_001848.3(COL6A1):c.1680C>T (p.Asn560=) rs147210734 0.00016
NM_001848.3(COL6A1):c.1741-6G>A rs200334019 0.00016
NM_001848.3(COL6A1):c.1957-4A>G rs184484842 0.00016
NM_001848.3(COL6A1):c.424G>C (p.Val142Leu) rs144282452 0.00016
NM_001848.3(COL6A1):c.429-8C>T rs768951384 0.00016
NM_001848.3(COL6A1):c.717+9C>T rs183868804 0.00016
NM_001849.4(COL6A2):c.1129C>T (p.Arg377Cys) rs144801620 0.00016
NM_001849.4(COL6A2):c.2656G>A (p.Gly886Ser) rs571488000 0.00016
NM_001849.4(COL6A2):c.2785G>A (p.Val929Met) rs145527336 0.00016
NM_001849.4(COL6A2):c.2927T>C (p.Leu976Ser) rs200200671 0.00016
NM_001849.4(COL6A2):c.2986G>A (p.Val996Met) rs142432514 0.00016
NM_001849.4(COL6A2):c.786C>G (p.Gly262=) rs145500808 0.00016
NM_001849.4(COL6A2):c.942C>T (p.Ala314=) rs531713008 0.00016
NM_003863.3(DPM2):c.-141G>A rs886063485 0.00016
NM_004369.4(COL6A3):c.1867C>T (p.Pro623Ser) rs372022185 0.00016
NM_004369.4(COL6A3):c.1975C>T (p.Arg659Cys) rs146291186 0.00016
NM_004369.4(COL6A3):c.3190C>T (p.Arg1064Trp) rs369810455 0.00016
NM_004369.4(COL6A3):c.3331G>A (p.Ala1111Thr) rs151021451 0.00016
NM_004369.4(COL6A3):c.4630C>T (p.Leu1544=) rs1460616364 0.00016
NM_004369.4(COL6A3):c.8804C>T (p.Ala2935Val) rs36020669 0.00016
NM_004370.6(COL12A1):c.1471G>C (p.Glu491Gln) rs367630003 0.00016
NM_004370.6(COL12A1):c.2006C>T (p.Ala669Val) rs201657576 0.00016
NM_004370.6(COL12A1):c.695C>T (p.Thr232Met) rs200443479 0.00016
NM_004370.6(COL12A1):c.8904G>A (p.Pro2968=) rs181007051 0.00016
NM_004393.6(DAG1):c.1719C>T (p.His573=) rs146157416 0.00016
NM_005198.5(CHKB):c.-27G>A rs367729011 0.00016
NM_006876.3(B4GAT1):c.895A>G (p.Thr299Ala) rs372380407 0.00016
NM_013382.7(POMT2):c.1206A>C (p.Pro402=) rs142479943 0.00016
NM_013382.7(POMT2):c.1321G>A (p.Gly441Ser) rs199743727 0.00016
NM_013382.7(POMT2):c.2083T>A (p.Trp695Arg) rs139308429 0.00016
NM_013382.7(POMT2):c.2127G>A (p.Leu709=) rs138142899 0.00016
NM_020451.3(SELENON):c.1247G>A (p.Arg416Gln) rs373112027 0.00016
NM_020451.3(SELENON):c.7C>A (p.Arg3=) rs866566089 0.00016
NM_024301.5(FKRP):c.1136G>A (p.Arg379Gln) rs140217866 0.00016
NM_032806.6(POMGNT2):c.1070G>A (p.Arg357His) rs144487961 0.00016
NM_032806.6(POMGNT2):c.1114G>A (p.Asp372Asn) rs147129872 0.00016
NM_032806.6(POMGNT2):c.1390G>A (p.Val464Met) rs150901131 0.00016
NM_133642.5(LARGE1):c.-247T>G rs886057463 0.00016
NM_133642.5(LARGE1):c.1892C>T (p.Thr631Met) rs368043810 0.00016
NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met) rs142756842 0.00016
NM_153741.2(DPM3):c.249C>A (p.Ala83=) rs193215070 0.00016
NM_173660.5(DOK7):c.1352G>A (p.Arg451Gln) rs200675356 0.00016
NM_173660.5(DOK7):c.765C>A (p.Gly255=) rs138215484 0.00016
NM_173660.5(DOK7):c.772+14C>G rs201023802 0.00016
NM_173660.5(DOK7):c.957C>G (p.Pro319=) rs777573281 0.00016
NM_001077365.2(POMT1):c.1117G>C (p.Val373Leu) rs200508760 0.00015
NM_001077365.2(POMT1):c.606-15G>C rs201897506 0.00015
NM_001079802.2(FKTN):c.*2433G>A rs886063329 0.00015
NM_001079802.2(FKTN):c.333T>C (p.Thr111=) rs141729611 0.00015
NM_001848.3(COL6A1):c.1712A>C (p.Lys571Thr) rs751040647 0.00015
NM_001848.3(COL6A1):c.2852C>T (p.Thr951Met) rs371111712 0.00015
NM_001849.4(COL6A2):c.1816+16C>T rs545974833 0.00015
NM_001849.4(COL6A2):c.2010C>A (p.Thr670=) rs142065958 0.00015
NM_001849.4(COL6A2):c.2331C>T (p.Cys777=) rs181711180 0.00015
NM_001849.4(COL6A2):c.2850C>T (p.Gly950=) rs751192681 0.00015
NM_002206.3(ITGA7):c.2536-15C>G rs142180981 0.00015
NM_003863.3(DPM2):c.*632T>C rs371958283 0.00015
NM_003863.4(DPM2):c.154G>A (p.Ala52Thr) rs147263320 0.00015
NM_004369.4(COL6A3):c.1264G>A (p.Val422Met) rs114511558 0.00015
NM_004369.4(COL6A3):c.5652C>T (p.Thr1884=) rs200285455 0.00015
NM_004369.4(COL6A3):c.6749C>T (p.Pro2250Leu) rs140728855 0.00015
NM_004370.6(COL12A1):c.2158G>A (p.Glu720Lys) rs768052470 0.00015
NM_004370.6(COL12A1):c.3443+16G>A rs371060233 0.00015
NM_004370.6(COL12A1):c.5308A>G (p.Thr1770Ala) rs192345009 0.00015
NM_004370.6(COL12A1):c.5893C>T (p.Arg1965Cys) rs200487396 0.00015
NM_004370.6(COL12A1):c.66G>A (p.Glu22=) rs369544130 0.00015
NM_004370.6(COL12A1):c.6718G>A (p.Ala2240Thr) rs199654252 0.00015
NM_004370.6(COL12A1):c.9064C>T (p.Pro3022Ser) rs200901687 0.00015
NM_004393.6(DAG1):c.1757C>T (p.Ser586Leu) rs371990100 0.00015
NM_004393.6(DAG1):c.402C>T (p.Ser134=) rs367603470 0.00015
NM_013382.7(POMT2):c.656+3C>G rs561052172 0.00015
NM_017739.4(POMGNT1):c.1454G>A (p.Arg485His) rs544816408 0.00015
NM_017739.4(POMGNT1):c.796C>T (p.Arg266Trp) rs200363064 0.00015
NM_020451.3(SELENON):c.1744C>T (p.Arg582Trp) rs373530866 0.00015
NM_020451.3(SELENON):c.538-7G>A rs374669004 0.00015
NM_024301.5(FKRP):c.1405C>T (p.Leu469=) rs143129484 0.00015
NM_024301.5(FKRP):c.336C>T (p.Ala112=) rs1054339656 0.00015
NM_000426.4(LAMA2):c.4969G>A (p.Val1657Met) rs370971334 0.00014
NM_000426.4(LAMA2):c.542A>G (p.Asn181Ser) rs143664472 0.00014
NM_000426.4(LAMA2):c.8011C>A (p.Pro2671Thr) rs780695627 0.00014
NM_000426.4(LAMA2):c.9188C>A (p.Pro3063His) rs151285465 0.00014
NM_001077365.2(POMT1):c.129C>T (p.Asp43=) rs200465419 0.00014
NM_001077365.2(POMT1):c.246C>T (p.Phe82=) rs148887050 0.00014
NM_001077365.2(POMT1):c.928G>A (p.Val310Ile) rs190112934 0.00014
NM_001079802.2(FKTN):c.*1017A>G rs886063324 0.00014
NM_001079802.2(FKTN):c.*1681G>A rs886063327 0.00014
NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln) rs146049441 0.00014
NM_001101426.4(CRPPA):c.985C>A (p.Gln329Lys) rs202126749 0.00014
NM_001848.3(COL6A1):c.1665C>T (p.Pro555=) rs369802454 0.00014
NM_001848.3(COL6A1):c.1930C>T (p.Arg644Trp) rs146622557 0.00014
NM_001848.3(COL6A1):c.2200A>G (p.Thr734Ala) rs562898957 0.00014
NM_001848.3(COL6A1):c.2349G>T (p.Arg783=) rs373511343 0.00014
NM_001848.3(COL6A1):c.2875G>A (p.Val959Met) rs200959957 0.00014
NM_001848.3(COL6A1):c.3078G>A (p.Ala1026=) rs190043330 0.00014
NM_001848.3(COL6A1):c.348C>T (p.Ser116=) rs189444981 0.00014
NM_001849.4(COL6A2):c.186C>A (p.Pro62=) rs762050166 0.00014
NM_001849.4(COL6A2):c.1970-13G>A rs369943351 0.00014
NM_001849.4(COL6A2):c.2711C>T (p.Ala904Val) rs376665722 0.00014
NM_001849.4(COL6A2):c.567C>T (p.Ala189=) rs563505047 0.00014
NM_001849.4(COL6A2):c.624G>A (p.Pro208=) rs146333253 0.00014
NM_004369.4(COL6A3):c.1874G>C (p.Arg625Thr) rs61729841 0.00014
NM_004369.4(COL6A3):c.2195C>T (p.Thr732Met) rs370719148 0.00014
NM_004369.4(COL6A3):c.3651G>T (p.Gln1217His) rs115065877 0.00014
NM_004369.4(COL6A3):c.6769G>A (p.Ala2257Thr) rs372154635 0.00014
NM_004369.4(COL6A3):c.6899G>A (p.Gly2300Glu) rs145572916 0.00014
NM_004369.4(COL6A3):c.6966+4A>C rs373940717 0.00014
NM_004369.4(COL6A3):c.9045C>T (p.Pro3015=) rs144834964 0.00014
NM_004370.6(COL12A1):c.4479G>A (p.Gln1493=) rs370024636 0.00014
NM_004370.6(COL12A1):c.5883G>C (p.Val1961=) rs368930149 0.00014
NM_004370.6(COL12A1):c.6048C>T (p.Ser2016=) rs369770672 0.00014
NM_004370.6(COL12A1):c.8469+14T>C rs370535727 0.00014
NM_004370.6(COL12A1):c.9144G>C (p.Gln3048His) rs57396313 0.00014
NM_004393.6(DAG1):c.372T>G (p.Thr124=) rs555051245 0.00014
NM_004393.6(DAG1):c.965C>T (p.Thr322Ile) rs376602004 0.00014
NM_005198.5(CHKB):c.34G>A (p.Gly12Arg) rs533374333 0.00014
NM_005198.5(CHKB):c.621C>T (p.Leu207=) rs372742172 0.00014
NM_013382.7(POMT2):c.36C>A (p.Ser12=) rs771074829 0.00014
NM_017739.4(POMGNT1):c.420G>A (p.Thr140=) rs146237009 0.00014
NM_020451.3(SELENON):c.81C>T (p.Arg27=) rs886038660 0.00014
NM_021971.4(GMPPB):c.887G>A (p.Arg296Gln) rs144040971 0.00014
NM_032806.6(POMGNT2):c.1466G>A (p.Arg489Gln) rs140400295 0.00014
NM_032806.6(POMGNT2):c.162G>A (p.Pro54=) rs755111895 0.00014
NM_032806.6(POMGNT2):c.650G>A (p.Arg217Gln) rs368280765 0.00014
NM_133642.5(LARGE1):c.179G>A (p.Arg60Gln) rs147620818 0.00014
NM_173660.5(DOK7):c.1233T>C (p.Leu411=) rs539706052 0.00014
NM_001077365.2(POMT1):c.698A>G (p.Asn233Ser) rs139774354 0.00013
NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser) rs374912618 0.00013
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs) rs886041302 0.00013
NM_001848.3(COL6A1):c.1231G>A (p.Asp411Asn) rs575394639 0.00013
NM_001848.3(COL6A1):c.2820G>A (p.Leu940=) rs111451684 0.00013
NM_001848.3(COL6A1):c.594G>A (p.Pro198=) rs376592866 0.00013
NM_001849.4(COL6A2):c.1489C>A (p.Pro497Thr) rs75581470 0.00013
NM_001849.4(COL6A2):c.1836C>T (p.Gly612=) rs141257132 0.00013
NM_001849.4(COL6A2):c.2244C>T (p.Cys748=) rs201426778 0.00013
NM_001849.4(COL6A2):c.2470G>A (p.Val824Met) rs758758266 0.00013
NM_001849.4(COL6A2):c.2580G>A (p.Ala860=) rs146420786 0.00013
NM_001849.4(COL6A2):c.542G>A (p.Arg181His) rs371640468 0.00013
NM_002206.3(ITGA7):c.1807C>T (p.Arg603Trp) rs375836925 0.00013
NM_002206.3(ITGA7):c.517C>T (p.Arg173Trp) rs368130279 0.00013
NM_004369.4(COL6A3):c.289C>T (p.Arg97Cys) rs144651558 0.00013
NM_004369.4(COL6A3):c.5501-4C>G rs143237699 0.00013
NM_004369.4(COL6A3):c.6064-6C>T rs202091342 0.00013
NM_004369.4(COL6A3):c.6868C>T (p.Arg2290Cys) rs116608946 0.00013
NM_004369.4(COL6A3):c.7025G>A (p.Arg2342Gln) rs369317566 0.00013
NM_004369.4(COL6A3):c.7175-11A>G rs373913396 0.00013
NM_004369.4(COL6A3):c.7670T>A (p.Ile2557Asn) rs146872525 0.00013
NM_004369.4(COL6A3):c.839G>T (p.Arg280Leu) rs370246962 0.00013
NM_004370.6(COL12A1):c.2797C>T (p.Arg933Cys) rs377223474 0.00013
NM_004370.6(COL12A1):c.4001-11C>T rs374279219 0.00013
NM_004370.6(COL12A1):c.5133C>T (p.Phe1711=) rs180961776 0.00013
NM_004370.6(COL12A1):c.7809C>T (p.Asp2603=) rs376582053 0.00013
NM_004393.6(DAG1):c.613A>G (p.Lys205Glu) rs145871499 0.00013
NM_005198.5(CHKB):c.275C>T (p.Pro92Leu) rs140867913 0.00013
NM_006876.3(B4GAT1):c.1056+7A>T rs373100703 0.00013
NM_013382.7(POMT2):c.1337G>A (p.Gly446Glu) rs376649599 0.00013
NM_013382.7(POMT2):c.148C>G (p.Arg50Gly) rs550420394 0.00013
NM_013382.7(POMT2):c.1920C>T (p.Gly640=) rs150755807 0.00013
NM_013382.7(POMT2):c.648C>T (p.Cys216=) rs147871747 0.00013
NM_017739.4(POMGNT1):c.7G>T (p.Asp3Tyr) rs201637813 0.00013
NM_021971.4(GMPPB):c.403-6A>G rs377689496 0.00013
NM_024301.5(FKRP):c.828A>G (p.Leu276=) rs745994685 0.00013
NM_032237.5(POMK):c.589G>T (p.Val197Leu) rs374943200 0.00013
NM_133642.5(LARGE1):c.1577G>A (p.Arg526His) rs536420427 0.00013
NM_170707.4(LMNA):c.1488+14C>T rs377700689 0.00013
NM_173660.5(DOK7):c.1346C>T (p.Thr449Met) rs373864257 0.00013
NM_173660.5(DOK7):c.596T>G (p.Ile199Ser) rs148650015 0.00013
NM_173660.5(DOK7):c.752C>T (p.Ala251Val) rs376251309 0.00013
NM_000426.4(LAMA2):c.6322C>T (p.Arg2108Trp) rs139824017 0.00012
NM_000426.4(LAMA2):c.725G>A (p.Arg242His) rs373570586 0.00012
NM_001077365.2(POMT1):c.1461C>T (p.Asn487=) rs373482514 0.00012
NM_001077365.2(POMT1):c.396C>T (p.Ala132=) rs375288218 0.00012
NM_001077365.2(POMT1):c.568C>T (p.Leu190=) rs752931210 0.00012
NM_001101426.4(CRPPA):c.1010A>G (p.Asn337Ser) rs369832637 0.00012
NM_001848.3(COL6A1):c.2041A>G (p.Ile681Val) rs377455608 0.00012
NM_001848.3(COL6A1):c.2793G>A (p.Ser931=) rs148561616 0.00012
NM_001849.4(COL6A2):c.1621G>A (p.Asp541Asn) rs138276378 0.00012
NM_001849.4(COL6A2):c.1963G>A (p.Glu655Lys) rs771886065 0.00012
NM_001849.4(COL6A2):c.2584C>T (p.Arg862Trp) rs777822883 0.00012
NM_001849.4(COL6A2):c.2748C>T (p.His916=) rs372206114 0.00012
NM_001849.4(COL6A2):c.2935G>A (p.Asp979Asn) rs141579198 0.00012
NM_001849.4(COL6A2):c.2960C>T (p.Thr987Met) rs199955442 0.00012
NM_002206.3(ITGA7):c.3002A>T (p.Asn1001Ile) rs201796615 0.00012
NM_002206.3(ITGA7):c.3388G>A (p.Gly1130Arg) rs770066237 0.00012
NM_004369.4(COL6A3):c.1961A>G (p.Asn654Ser) rs144501019 0.00012
NM_004369.4(COL6A3):c.2497+19C>T rs141966456 0.00012
NM_004369.4(COL6A3):c.2525T>C (p.Phe842Ser) rs369930821 0.00012
NM_004369.4(COL6A3):c.3063A>G (p.Pro1021=) rs200098134 0.00012
NM_004369.4(COL6A3):c.4066G>A (p.Ala1356Thr) rs143459232 0.00012
NM_004369.4(COL6A3):c.4436A>T (p.Gln1479Leu) rs369449472 0.00012
NM_004369.4(COL6A3):c.5179C>T (p.Arg1727Trp) rs143074017 0.00012
NM_004369.4(COL6A3):c.5589C>T (p.Asp1863=) rs144592806 0.00012
NM_004369.4(COL6A3):c.5825C>T (p.Pro1942Leu) rs150694150 0.00012
NM_004370.6(COL12A1):c.1891+4A>G rs148292262 0.00012
NM_004370.6(COL12A1):c.3767A>G (p.His1256Arg) rs199692759 0.00012
NM_004370.6(COL12A1):c.4630A>G (p.Thr1544Ala) rs777544552 0.00012
NM_004393.6(DAG1):c.1799A>G (p.Gln600Arg) rs369180031 0.00012
NM_004393.6(DAG1):c.286-10del rs747305463 0.00012
NM_005198.5(CHKB):c.501T>G (p.Ile167Met) rs199704510 0.00012
NM_013382.7(POMT2):c.1889C>T (p.Ala630Val) rs752214239 0.00012
NM_014254.3(RXYLT1):c.17A>G (p.Lys6Arg) rs145516652 0.00012
NM_017739.4(POMGNT1):c.1536T>C (p.Phe512=) rs367596859 0.00012
NM_017739.4(POMGNT1):c.960C>G (p.Arg320=) rs146933218 0.00012
NM_024301.5(FKRP):c.654G>A (p.Val218=) rs749320485 0.00012
NM_024301.5(FKRP):c.954C>T (p.Cys318=) rs755968761 0.00012
NM_032806.6(POMGNT2):c.195A>G (p.Thr65=) rs199992681 0.00012
NM_032806.6(POMGNT2):c.422G>A (p.Arg141His) rs576598140 0.00012
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=) rs12627793 0.00012
NM_152490.5(B3GALNT2):c.959T>C (p.Ile320Thr) rs148808160 0.00012
NM_170707.4(LMNA):c.811-12C>T rs372962650 0.00012
NM_000426.4(LAMA2):c.1373G>A (p.Arg458Lys) rs140604077 0.00011
NM_000426.4(LAMA2):c.8842G>A (p.Gly2948Ser) rs143638361 0.00011
NM_000426.4(LAMA2):c.8907C>T (p.Arg2969=) rs367622610 0.00011
NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln) rs202140413 0.00011
NM_001077365.2(POMT1):c.2061G>A (p.Ala687=) rs200916353 0.00011
NM_001077365.2(POMT1):c.281-5T>C rs367743923 0.00011
NM_001077365.2(POMT1):c.875C>G (p.Thr292Ser) rs376471064 0.00011
NM_001077365.2(POMT1):c.921G>T (p.Leu307=) rs371243573 0.00011
NM_001079802.2(FKTN):c.*2508G>T rs886063330 0.00011
NM_001079802.2(FKTN):c.*3547C>T rs886063336 0.00011
NM_001079802.2(FKTN):c.647+12G>A rs372589966 0.00011
NM_001101426.4(CRPPA):c.123G>C (p.Gly41=) rs761842188 0.00011
NM_001101426.4(CRPPA):c.243A>G (p.Leu81=) rs763209907 0.00011
NM_001101426.4(CRPPA):c.532G>A (p.Gly178Arg) rs202108204 0.00011
NM_001848.3(COL6A1):c.1462-19G>A rs191393017 0.00011
NM_001848.3(COL6A1):c.2418C>T (p.Thr806=) rs760768642 0.00011
NM_001848.3(COL6A1):c.2435-18G>A rs550691133 0.00011
NM_001848.3(COL6A1):c.2622G>A (p.Ala874=) rs371763977 0.00011
NM_001848.3(COL6A1):c.355G>A (p.Ala119Thr) rs149392243 0.00011
NM_001848.3(COL6A1):c.539A>G (p.Lys180Arg) rs756141940 0.00011
NM_001848.3(COL6A1):c.624G>A (p.Thr208=) rs573282005 0.00011
NM_001848.3(COL6A1):c.726C>T (p.Asn242=) rs142102852 0.00011
NM_001849.4(COL6A2):c.1720G>C (p.Val574Leu) rs142021066 0.00011
NM_001849.4(COL6A2):c.2293G>A (p.Glu765Lys) rs369344885 0.00011
NM_001849.4(COL6A2):c.2628C>T (p.Arg876=) rs372413216 0.00011
NM_001849.4(COL6A2):c.2798G>A (p.Arg933His) rs374384263 0.00011
NM_001849.4(COL6A2):c.2802C>T (p.Gly934=) rs151295731 0.00011
NM_001849.4(COL6A2):c.2841C>T (p.Leu947=) rs532522222 0.00011
NM_001849.4(COL6A2):c.2922G>A (p.Leu974=) rs556385546 0.00011
NM_001849.4(COL6A2):c.344G>A (p.Arg115Gln) rs145352569 0.00011
NM_002206.3(ITGA7):c.1589C>T (p.Ala530Val) rs200267194 0.00011
NM_002206.3(ITGA7):c.2534C>T (p.Thr845Met) rs55654066 0.00011
NM_002206.3(ITGA7):c.3189A>T (p.Gly1063=) rs144034532 0.00011
NM_002206.3(ITGA7):c.51C>T (p.Tyr17=) rs200269068 0.00011
NM_002206.3(ITGA7):c.66G>A (p.Leu22=) rs137962065 0.00011
NM_004369.4(COL6A3):c.3205G>A (p.Val1069Met) rs115297652 0.00011
NM_004369.4(COL6A3):c.4383G>A (p.Arg1461=) rs144612879 0.00011
NM_004369.4(COL6A3):c.6798C>T (p.Thr2266=) rs116541926 0.00011
NM_004369.4(COL6A3):c.7174G>A (p.Gly2392Arg) rs773673162 0.00011
NM_004369.4(COL6A3):c.7953G>A (p.Met2651Ile) rs369537287 0.00011
NM_004369.4(COL6A3):c.843G>T (p.Val281=) rs376201065 0.00011
NM_004369.4(COL6A3):c.8628G>A (p.Pro2876=) rs143006225 0.00011
NM_004369.4(COL6A3):c.9117G>A (p.Thr3039=) rs376780810 0.00011
NM_004369.4(COL6A3):c.9147C>T (p.Leu3049=) rs183247300 0.00011
NM_004370.6(COL12A1):c.1883A>G (p.Lys628Arg) rs752689011 0.00011
NM_004370.6(COL12A1):c.292G>A (p.Asp98Asn) rs558571598 0.00011
NM_004370.6(COL12A1):c.3652G>A (p.Val1218Met) rs201749138 0.00011
NM_004370.6(COL12A1):c.9165C>T (p.Asn3055=) rs369646700 0.00011
NM_005198.5(CHKB):c.944A>G (p.His315Arg) rs199641367 0.00011
NM_005868.6(BET1):c.134del (p.Ala45fs) rs541754296 0.00011
NM_006876.3(B4GAT1):c.152C>T (p.Pro51Leu) rs531686913 0.00011
NM_006876.3(B4GAT1):c.758C>G (p.Thr253Ser) rs35429253 0.00011
NM_013382.7(POMT2):c.*1724C>T rs45510397 0.00011
NM_013382.7(POMT2):c.1250A>G (p.Lys417Arg) rs147268052 0.00011
NM_013382.7(POMT2):c.1333-13G>C rs755487607 0.00011
NM_017739.4(POMGNT1):c.1979C>T (p.Thr660Ile) rs377760450 0.00011
NM_017739.4(POMGNT1):c.22C>A (p.Pro8Thr) rs186444670 0.00011
NM_017739.4(POMGNT1):c.421-13_421-10dup rs772136218 0.00011
NM_017739.4(POMGNT1):c.426C>T (p.His142=) rs374384310 0.00011
NM_017739.4(POMGNT1):c.652+6G>A rs369289384 0.00011
NM_017739.4(POMGNT1):c.752-15G>A rs368317059 0.00011
NM_020451.3(SELENON):c.1295C>T (p.Pro432Leu) rs199920149 0.00011
NM_020451.3(SELENON):c.1388-3C>T rs754894330 0.00011
NM_020451.3(SELENON):c.420C>G (p.Ala140=) rs778551841 0.00011
NM_021971.4(GMPPB):c.402+15C>T rs371972364 0.00011
NM_021971.4(GMPPB):c.956G>A (p.Arg319His) rs768327938 0.00011
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) rs143031195 0.00011
NM_024301.5(FKRP):c.11C>G (p.Thr4Ser) rs771333733 0.00011
NM_024301.5(FKRP):c.613C>G (p.Arg205Gly) rs753297636 0.00011
NM_032237.5(POMK):c.282+20C>T rs181979471 0.00011
NM_032237.5(POMK):c.54G>A (p.Pro18=) rs201226142 0.00011
NM_032237.5(POMK):c.760G>A (p.Val254Met) rs34715198 0.00011
NM_032806.6(POMGNT2):c.1010A>G (p.Asn337Ser) rs200535361 0.00011
NM_032806.6(POMGNT2):c.454G>A (p.Val152Met) rs201114442 0.00011
NM_032806.6(POMGNT2):c.76C>T (p.Arg26Cys) rs755067791 0.00011
NM_133642.5(LARGE1):c.*499G>A rs886057458 0.00011
NM_133642.5(LARGE1):c.1645G>A (p.Val549Met) rs149646216 0.00011
NM_133642.5(LARGE1):c.1664G>A (p.Ser555Asn) rs773148038 0.00011
NM_133642.5(LARGE1):c.2073+11C>T rs774384587 0.00011
NM_133642.5(LARGE1):c.2256C>T (p.Ala752=) rs114246562 0.00011
NM_133642.5(LARGE1):c.460G>A (p.Val154Ile) rs138938225 0.00011
NM_133642.5(LARGE1):c.708G>A (p.Glu236=) rs202028671 0.00011
NM_133642.5(LARGE1):c.787+14del rs757463406 0.00011
NM_152490.5(B3GALNT2):c.843A>G (p.Glu281=) rs543981282 0.00011
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_173660.5(DOK7):c.1406C>A (p.Pro469His) rs147185207 0.00011
NM_173660.5(DOK7):c.1434C>T (p.Gly478=) rs781007084 0.00011
NM_173660.5(DOK7):c.189C>T (p.Cys63=) rs372989037 0.00011
NM_173660.5(DOK7):c.82A>C (p.Lys28Gln) rs576215366 0.00011
NM_173660.5(DOK7):c.931A>G (p.Met311Val) rs752949999 0.00011
NM_173660.5(DOK7):c.971C>T (p.Pro324Leu) rs546889092 0.00011
NM_182961.4(SYNE1):c.20737C>T (p.Arg6913Cys) rs142593312 0.00011
NM_000426.4(LAMA2):c.1391C>T (p.Pro464Leu) rs150394215 0.00010
NM_000426.4(LAMA2):c.2240G>C (p.Gly747Ala) rs139843107 0.00010
NM_000426.4(LAMA2):c.4048C>T (p.Arg1350Ter) rs756854513 0.00010
NM_000426.4(LAMA2):c.9161C>A (p.Ala3054Glu) rs151049890 0.00010
NM_001077365.2(POMT1):c.*105G>A rs886063539 0.00010
NM_001077365.2(POMT1):c.1252G>A (p.Ala418Thr) rs142057517 0.00010
NM_001077365.2(POMT1):c.2067C>T (p.His689=) rs141895982 0.00010
NM_001077365.2(POMT1):c.330C>G (p.Leu110=) rs138064523 0.00010
NM_001079802.2(FKTN):c.*3377A>G rs148172557 0.00010
NM_001101426.4(CRPPA):c.320G>T (p.Ser107Ile) rs199691459 0.00010
NM_001848.3(COL6A1):c.1437C>T (p.Gly479=) rs762625409 0.00010
NM_001848.3(COL6A1):c.2304G>C (p.Gln768His) rs376567898 0.00010
NM_001848.3(COL6A1):c.2553C>T (p.Phe851=) rs370632963 0.00010
NM_001848.3(COL6A1):c.2611G>A (p.Val871Met) rs374685631 0.00010
NM_001848.3(COL6A1):c.2994C>T (p.Tyr998=) rs148405880 0.00010
NM_001848.3(COL6A1):c.705C>T (p.Ile235=) rs536786554 0.00010
NM_001848.3(COL6A1):c.931-5C>T rs371841573 0.00010
NM_001849.4(COL6A2):c.1269G>C (p.Pro423=) rs144136807 0.00010
NM_001849.4(COL6A2):c.1332+3G>A rs201007156 0.00010
NM_001849.4(COL6A2):c.189G>A (p.Thr63=) rs143583433 0.00010
NM_001849.4(COL6A2):c.1911C>T (p.Phe637=) rs746339542 0.00010
NM_001849.4(COL6A2):c.2817C>T (p.His939=) rs368164391 0.00010
NM_001849.4(COL6A2):c.2848G>A (p.Gly950Ser) rs147054208 0.00010
NM_001849.4(COL6A2):c.3003C>A (p.Asp1001Glu) rs756253502 0.00010
NM_001849.4(COL6A2):c.446G>A (p.Arg149His) rs143891262 0.00010
NM_002206.3(ITGA7):c.1640G>A (p.Ser547Asn) rs149269456 0.00010
NM_004369.4(COL6A3):c.1120G>A (p.Val374Met) rs780353083 0.00010
NM_004369.4(COL6A3):c.1562C>T (p.Ser521Leu) rs115881121 0.00010
NM_004369.4(COL6A3):c.186A>G (p.Leu62=) rs773733833 0.00010
NM_004369.4(COL6A3):c.2305G>A (p.Ala769Thr) rs142719863 0.00010
NM_004369.4(COL6A3):c.3324C>T (p.Thr1108=) rs116239777 0.00010
NM_004369.4(COL6A3):c.3992G>A (p.Arg1331His) rs751772951 0.00010
NM_004369.4(COL6A3):c.4828A>G (p.Met1610Val) rs778808432 0.00010
NM_004369.4(COL6A3):c.5394C>T (p.Arg1798=) rs202086524 0.00010
NM_004369.4(COL6A3):c.543T>C (p.Asp181=) rs898779231 0.00010
NM_004369.4(COL6A3):c.5838+12C>A rs117734465 0.00010
NM_004369.4(COL6A3):c.5968C>T (p.Arg1990Trp) rs146546544 0.00010
NM_004369.4(COL6A3):c.6263C>T (p.Pro2088Leu) rs113896755 0.00010
NM_004369.4(COL6A3):c.6422C>A (p.Pro2141His) rs369169235 0.00010
NM_004369.4(COL6A3):c.8846C>T (p.Pro2949Leu) rs376021820 0.00010
NM_004370.6(COL12A1):c.1050T>C (p.Val350=) rs372113789 0.00010
NM_004370.6(COL12A1):c.1164G>A (p.Thr388=) rs373522815 0.00010
NM_004370.6(COL12A1):c.5224C>T (p.Arg1742Cys) rs530680231 0.00010
NM_004370.6(COL12A1):c.5393C>T (p.Thr1798Met) rs370767331 0.00010
NM_004370.6(COL12A1):c.732G>A (p.Val244=) rs200141559 0.00010
NM_004370.6(COL12A1):c.7854G>C (p.Thr2618=) rs190984968 0.00010
NM_004370.6(COL12A1):c.9076C>G (p.Pro3026Ala) rs376189614 0.00010
NM_004393.6(DAG1):c.1205G>T (p.Arg402Leu) rs537829489 0.00010
NM_004393.6(DAG1):c.1215G>A (p.Met405Ile) rs141238609 0.00010
NM_005198.5(CHKB):c.315G>A (p.Leu105=) rs369633837 0.00010
NM_005198.5(CHKB):c.870C>T (p.His290=) rs140020889 0.00010
NM_006876.3(B4GAT1):c.196G>A (p.Ala66Thr) rs765114036 0.00010
NM_013382.7(POMT2):c.*693C>G rs752332125 0.00010
NM_013382.7(POMT2):c.-149C>A rs886050828 0.00010
NM_013382.7(POMT2):c.1363C>T (p.Arg455Trp) rs398124261 0.00010
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778 0.00010
NM_013382.7(POMT2):c.2056C>T (p.Arg686Trp) rs727502859 0.00010
NM_017739.4(POMGNT1):c.355G>A (p.Val119Met) rs148498470 0.00010
NM_021971.4(GMPPB):c.129+5G>A rs370203820 0.00010
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619 0.00010
NM_032237.5(POMK):c.626C>T (p.Pro209Leu) rs369093146 0.00010
NM_032806.6(POMGNT2):c.1137G>A (p.Thr379=) rs377724350 0.00010
NM_032806.6(POMGNT2):c.1392G>C (p.Val464=) rs554801280 0.00010
NM_032806.6(POMGNT2):c.928C>T (p.Leu310=) rs151274025 0.00010
NM_133642.5(LARGE1):c.*770A>T rs886057456 0.00010
NM_133642.5(LARGE1):c.*849C>T rs149508241 0.00010
NM_133642.5(LARGE1):c.1791C>T (p.Phe597=) rs369773678 0.00010
NM_133642.5(LARGE1):c.2015G>A (p.Arg672Gln) rs145736519 0.00010
NM_133642.5(LARGE1):c.334G>A (p.Glu112Lys) rs146078928 0.00010
NM_133642.5(LARGE1):c.478G>A (p.Val160Ile) rs775539988 0.00010
NM_133642.5(LARGE1):c.796G>C (p.Val266Leu) rs145594612 0.00010
NM_152490.5(B3GALNT2):c.1214C>T (p.Pro405Leu) rs554797006 0.00010
NM_152490.5(B3GALNT2):c.279A>C (p.Ile93=) rs148341787 0.00010
NM_152490.5(B3GALNT2):c.579C>T (p.Phe193=) rs745391527 0.00010
NM_170707.4(LMNA):c.1202G>A (p.Arg401His) rs141490569 0.00010
NM_173660.5(DOK7):c.1354C>T (p.Arg452Trp) rs375116985 0.00010
NM_173660.5(DOK7):c.1470G>A (p.Ser490=) rs543344505 0.00010
NM_173660.5(DOK7):c.332-13C>T rs778628534 0.00010
NM_173660.5(DOK7):c.962C>T (p.Pro321Leu) rs560882592 0.00010
NM_000426.4(LAMA2):c.715C>T (p.Arg239Cys) rs145465528 0.00009
NM_001077365.2(POMT1):c.*448C>T rs373799176 0.00009
NM_001077365.2(POMT1):c.*591C>T rs1012682271 0.00009
NM_001077365.2(POMT1):c.1149C>T (p.His383=) rs202121299 0.00009
NM_001077365.2(POMT1):c.1740G>A (p.Ser580=) rs148758906 0.00009
NM_001077365.2(POMT1):c.1826-17C>T rs377691462 0.00009
NM_001077365.2(POMT1):c.427+12G>A rs372588957 0.00009
NM_001077365.2(POMT1):c.488A>G (p.Asn163Ser) rs182295674 0.00009
NM_001077365.2(POMT1):c.803G>A (p.Arg268His) rs369644530 0.00009
NM_001079802.2(FKTN):c.1172+13T>C rs768792475 0.00009
NM_001101426.4(CRPPA):c.1246C>T (p.Pro416Ser) rs373134516 0.00009
NM_001101426.4(CRPPA):c.277A>G (p.Ile93Val) rs762370550 0.00009
NM_001101426.4(CRPPA):c.776C>T (p.Pro259Leu) rs369193825 0.00009
NM_001848.3(COL6A1):c.1092C>T (p.Pro364=) rs368088970 0.00009
NM_001848.3(COL6A1):c.1399-14C>G rs374784450 0.00009
NM_001848.3(COL6A1):c.227+11C>T rs371425947 0.00009
NM_001848.3(COL6A1):c.227+15C>T rs199730779 0.00009
NM_001848.3(COL6A1):c.2352C>T (p.Pro784=) rs377558756 0.00009
NM_001848.3(COL6A1):c.2568C>T (p.Ala856=) rs771446601 0.00009
NM_001848.3(COL6A1):c.2615G>A (p.Arg872Gln) rs377586358 0.00009
NM_001848.3(COL6A1):c.508G>C (p.Gly170Arg) rs370889024 0.00009
NM_001848.3(COL6A1):c.593C>T (p.Pro198Leu) rs199867193 0.00009
NM_001848.3(COL6A1):c.609C>T (p.Ile203=) rs369590506 0.00009
NM_001848.3(COL6A1):c.894G>A (p.Gln298=) rs371989252 0.00009
NM_001849.4(COL6A2):c.116-6C>T rs761805565 0.00009
NM_001849.4(COL6A2):c.120G>A (p.Lys40=) rs200025682 0.00009
NM_001849.4(COL6A2):c.1358G>A (p.Arg453His) rs878854386 0.00009
NM_001849.4(COL6A2):c.138C>T (p.His46=) rs201753549 0.00009
NM_001849.4(COL6A2):c.1458+9_1458+14del rs762583937 0.00009
NM_001849.4(COL6A2):c.2254G>A (p.Val752Ile) rs557865000 0.00009
NM_001849.4(COL6A2):c.22G>A (p.Val8Met) rs192476178 0.00009
NM_001849.4(COL6A2):c.2566G>A (p.Val856Met) rs368160013 0.00009
NM_001849.4(COL6A2):c.2671G>A (p.Ala891Thr) rs754110764 0.00009
NM_001849.4(COL6A2):c.2745G>A (p.Ser915=) rs144516266 0.00009
NM_001849.4(COL6A2):c.2784C>T (p.Ile928=) rs199501232 0.00009
NM_001849.4(COL6A2):c.2938G>A (p.Val980Met) rs140020002 0.00009
NM_001849.4(COL6A2):c.3024C>T (p.Pro1008=) rs201635208 0.00009
NM_001849.4(COL6A2):c.544G>A (p.Glu182Lys) rs374504636 0.00009
NM_001849.4(COL6A2):c.855+19C>T rs373366455 0.00009
NM_001849.4(COL6A2):c.855+8T>C rs370008311 0.00009
NM_001849.4(COL6A2):c.999+10G>T rs376378709 0.00009
NM_002206.3(ITGA7):c.1192+7C>T rs771730976 0.00009
NM_002206.3(ITGA7):c.1249A>G (p.Ser417Gly) rs150004156 0.00009
NM_002206.3(ITGA7):c.2478C>T (p.Gly826=) rs551278553 0.00009
NM_002206.3(ITGA7):c.2907C>T (p.Arg969=) rs775767470 0.00009
NM_002206.3(ITGA7):c.3385G>A (p.Asp1129Asn) rs572158420 0.00009
NM_002206.3(ITGA7):c.546G>A (p.Lys182=) rs777933646 0.00009
NM_004369.4(COL6A3):c.1557C>T (p.Asp519=) rs145586177 0.00009
NM_004369.4(COL6A3):c.2144C>T (p.Ser715Leu) rs780115806 0.00009
NM_004369.4(COL6A3):c.2444C>A (p.Pro815His) rs199601240 0.00009
NM_004369.4(COL6A3):c.253G>A (p.Gly85Arg) rs755587601 0.00009
NM_004369.4(COL6A3):c.3055G>A (p.Gly1019Arg) rs370664069 0.00009
NM_004369.4(COL6A3):c.3507C>T (p.Asn1169=) rs138426138 0.00009
NM_004369.4(COL6A3):c.3754C>T (p.Arg1252Cys) rs563530370 0.00009
NM_004369.4(COL6A3):c.4032G>A (p.Ser1344=) rs145048734 0.00009
NM_004369.4(COL6A3):c.414C>T (p.Ala138=) rs148996231 0.00009
NM_004369.4(COL6A3):c.4663G>A (p.Asp1555Asn) rs763162762 0.00009
NM_004369.4(COL6A3):c.466G>T (p.Asp156Tyr) rs199632952 0.00009
NM_004369.4(COL6A3):c.5020G>A (p.Asp1674Asn) rs778940391 0.00009
NM_004369.4(COL6A3):c.5501-17G>A rs200723656 0.00009
NM_004369.4(COL6A3):c.552G>A (p.Ala184=) rs542204130 0.00009
NM_004369.4(COL6A3):c.5657G>A (p.Arg1886His) rs368379003 0.00009
NM_004369.4(COL6A3):c.5678C>T (p.Thr1893Met) rs143389941 0.00009
NM_004369.4(COL6A3):c.5679G>A (p.Thr1893=) rs149151423 0.00009
NM_004369.4(COL6A3):c.5743C>T (p.Arg1915Trp) rs201938007 0.00009
NM_004369.4(COL6A3):c.6053C>T (p.Ala2018Val) rs200239695 0.00009
NM_004369.4(COL6A3):c.6157-4T>G rs536696110 0.00009
NM_004369.4(COL6A3):c.6211-13T>C rs751001881 0.00009
NM_004369.4(COL6A3):c.7173C>T (p.Tyr2391=) rs114248590 0.00009
NM_004369.4(COL6A3):c.7254C>T (p.Phe2418=) rs768794876 0.00009
NM_004369.4(COL6A3):c.7375C>T (p.Arg2459Trp) rs371066956 0.00009
NM_004369.4(COL6A3):c.7611G>T (p.Gly2537=) rs145868338 0.00009
NM_004369.4(COL6A3):c.7702C>T (p.Leu2568=) rs201479636 0.00009
NM_004369.4(COL6A3):c.8022C>T (p.Ser2674=) rs149403952 0.00009
NM_004369.4(COL6A3):c.8457C>T (p.Phe2819=) rs138683303 0.00009
NM_004369.4(COL6A3):c.862G>A (p.Asp288Asn) rs115729513 0.00009
NM_004369.4(COL6A3):c.9059A>G (p.Tyr3020Cys) rs371006546 0.00009
NM_004369.4(COL6A3):c.91+15C>T rs117521066 0.00009
NM_004369.4(COL6A3):c.9394C>T (p.Pro3132Ser) rs147533489 0.00009
NM_004370.6(COL12A1):c.1906A>G (p.Lys636Glu) rs754916465 0.00009
NM_004370.6(COL12A1):c.2323A>G (p.Arg775Gly) rs200167099 0.00009
NM_004370.6(COL12A1):c.3099T>C (p.His1033=) rs751065518 0.00009
NM_004370.6(COL12A1):c.3325C>G (p.Pro1109Ala) rs528319887 0.00009
NM_004370.6(COL12A1):c.5069C>T (p.Ala1690Val) rs763883662 0.00009
NM_004370.6(COL12A1):c.5369C>G (p.Ser1790Cys) rs199684959 0.00009
NM_004370.6(COL12A1):c.5466C>T (p.Thr1822=) rs373978519 0.00009
NM_004370.6(COL12A1):c.7302C>T (p.Asp2434=) rs372068116 0.00009
NM_004370.6(COL12A1):c.8100+16T>A rs201476445 0.00009
NM_004370.6(COL12A1):c.8416-14A>G rs202033555 0.00009
NM_004370.6(COL12A1):c.8523+18G>C rs202002189 0.00009
NM_004370.6(COL12A1):c.8554C>T (p.Pro2852Ser) rs200375837 0.00009
NM_004370.6(COL12A1):c.8856C>T (p.Ser2952=) rs375760724 0.00009
NM_004393.6(DAG1):c.1287A>G (p.Val429=) rs200282503 0.00009
NM_004393.6(DAG1):c.1306A>G (p.Thr436Ala) rs149838438 0.00009
NM_004393.6(DAG1):c.1307C>T (p.Thr436Met) rs143573515 0.00009
NM_004393.6(DAG1):c.2349T>C (p.Leu783=) rs201280782 0.00009
NM_005198.5(CHKB):c.668G>A (p.Gly223Asp) rs369606974 0.00009
NM_005198.5(CHKB):c.928-16T>C rs774461264 0.00009
NM_005198.5(CHKB):c.970G>C (p.Glu324Gln) rs771047317 0.00009
NM_006876.3(B4GAT1):c.1074G>T (p.Val358=) rs768782904 0.00009
NM_013382.7(POMT2):c.*1749C>A rs543216671 0.00009
NM_013382.7(POMT2):c.*727C>T rs980293755 0.00009
NM_013382.7(POMT2):c.*766C>T rs552352814 0.00009
NM_013382.7(POMT2):c.1089C>T (p.Pro363=) rs540688610 0.00009
NM_013382.7(POMT2):c.1786-12A>G rs537415359 0.00009
NM_013382.7(POMT2):c.1978G>T (p.Val660Phe) rs200690151 0.00009
NM_013382.7(POMT2):c.2033-16C>T rs1004073852 0.00009
NM_013382.7(POMT2):c.424A>G (p.Met142Val) rs148938943 0.00009
NM_013382.7(POMT2):c.700G>A (p.Val234Ile) rs576822260 0.00009
NM_013382.7(POMT2):c.844C>T (p.Arg282Cys) rs200204831 0.00009
NM_017739.4(POMGNT1):c.-141A>G rs886046387 0.00009
NM_017739.4(POMGNT1):c.1285-6C>T rs377292905 0.00009
NM_017739.4(POMGNT1):c.1825C>T (p.Arg609Trp) rs145736350 0.00009
NM_017739.4(POMGNT1):c.1895+1G>T rs386834024 0.00009
NM_017739.4(POMGNT1):c.747A>G (p.Ala249=) rs774008151 0.00009
NM_017739.4(POMGNT1):c.958C>T (p.Arg320Cys) rs373777515 0.00009
NM_020451.3(SELENON):c.1517C>T (p.Ser506Leu) rs766798515 0.00009
NM_020451.3(SELENON):c.1563C>T (p.Phe521=) rs373154763 0.00009
NM_020451.3(SELENON):c.301+18C>T rs373189692 0.00009
NM_021971.4(GMPPB):c.129+7C>A rs748350135 0.00009
NM_021971.4(GMPPB):c.516C>T (p.Asn172=) rs147672249 0.00009
NM_021971.4(GMPPB):c.525G>T (p.Met175Ile) rs147966522 0.00009
NM_024301.5(FKRP):c.1441C>G (p.Pro481Ala) rs745774108 0.00009
NM_024301.5(FKRP):c.813G>A (p.Ala271=) rs781205564 0.00009
NM_032237.5(POMK):c.33C>G (p.Gly11=) rs967238740 0.00009
NM_032237.5(POMK):c.732C>T (p.Cys244=) rs142479040 0.00009
NM_032806.6(POMGNT2):c.1092C>G (p.Leu364=) rs372895122 0.00009
NM_032806.6(POMGNT2):c.538C>T (p.Arg180Trp) rs371895867 0.00009
NM_032806.6(POMGNT2):c.635A>G (p.Lys212Arg) rs141665095 0.00009
NM_032806.6(POMGNT2):c.994G>A (p.Val332Met) rs549430013 0.00009
NM_133642.5(LARGE1):c.432C>T (p.Cys144=) rs201977889 0.00009
NM_152490.5(B3GALNT2):c.1373G>A (p.Ser458Asn) rs202067569 0.00009
NM_152490.5(B3GALNT2):c.466G>A (p.Val156Ile) rs151133469 0.00009
NM_170707.4(LMNA):c.-138T>C rs886045359 0.00009
NM_170707.4(LMNA):c.1390A>G (p.Met464Val) rs200262654 0.00009
NM_173660.5(DOK7):c.1144G>A (p.Glu382Lys) rs560463670 0.00009
NM_173660.5(DOK7):c.1290G>A (p.Ala430=) rs538047872 0.00009
NM_173660.5(DOK7):c.1403G>A (p.Gly468Asp) rs767909551 0.00009
NM_173660.5(DOK7):c.1503C>A (p.Asn501Lys) rs750262940 0.00009
NM_173660.5(DOK7):c.480C>T (p.Tyr160=) rs550024569 0.00009
NM_173660.5(DOK7):c.561C>T (p.Ala187=) rs140026458 0.00009
NM_173660.5(DOK7):c.597C>T (p.Ile199=) rs771302576 0.00009
NM_173660.5(DOK7):c.838C>T (p.Arg280Trp) rs139573161 0.00009
NM_173660.5(DOK7):c.932T>C (p.Met311Thr) rs763124567 0.00009
NM_000426.4(LAMA2):c.4075A>G (p.Met1359Val) rs749372185 0.00008
NM_000426.4(LAMA2):c.6563G>A (p.Ser2188Asn) rs372592018 0.00008
NM_000426.4(LAMA2):c.9328G>A (p.Glu3110Lys) rs140829166 0.00008
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) rs200056620 0.00008
NM_001077365.2(POMT1):c.1486+10C>T rs373393733 0.00008
NM_001077365.2(POMT1):c.1838G>A (p.Arg613His) rs147601415 0.00008
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu) rs139660235 0.00008
NM_001079802.2(FKTN):c.*2984C>T rs886063332 0.00008
NM_001079802.2(FKTN):c.1102T>C (p.Phe368Leu) rs374381691 0.00008
NM_001101426.4(CRPPA):c.914T>G (p.Val305Gly) rs370397489 0.00008
NM_001101426.4(CRPPA):c.990C>G (p.Ile330Met) rs373422736 0.00008
NM_001848.3(COL6A1):c.1160G>A (p.Ser387Asn) rs756884829 0.00008
NM_001848.3(COL6A1):c.1777-3C>T rs111263341 0.00008
NM_001848.3(COL6A1):c.2464+9C>T rs368651226 0.00008
NM_001848.3(COL6A1):c.474C>T (p.Asp158=) rs773280332 0.00008
NM_001848.3(COL6A1):c.589-13A>G rs201695574 0.00008
NM_001848.3(COL6A1):c.69G>A (p.Pro23=) rs149741299 0.00008
NM_001848.3(COL6A1):c.822G>A (p.Pro274=) rs886044503 0.00008
NM_001849.4(COL6A2):c.1436C>T (p.Ala479Val) rs373846012 0.00008
NM_001849.4(COL6A2):c.1459-13C>T rs370542209 0.00008
NM_001849.4(COL6A2):c.1671+12C>T rs369570961 0.00008
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_001849.4(COL6A2):c.2008A>G (p.Thr670Ala) rs753298014 0.00008
NM_001849.4(COL6A2):c.2301C>T (p.His767=) rs138371054 0.00008
NM_001849.4(COL6A2):c.2370C>T (p.Ser790=) rs530866573 0.00008
NM_001849.4(COL6A2):c.2678C>T (p.Pro893Leu) rs779242861 0.00008
NM_001849.4(COL6A2):c.672C>T (p.Thr224=) rs759388890 0.00008
NM_001849.4(COL6A2):c.735+9C>T rs377121540 0.00008
NM_001849.4(COL6A2):c.945C>T (p.Asp315=) rs549800720 0.00008
NM_002206.3(ITGA7):c.1396G>A (p.Ala466Thr) rs61733964 0.00008
NM_002206.3(ITGA7):c.1801C>T (p.Arg601Trp) rs201875236 0.00008
NM_002206.3(ITGA7):c.3200G>A (p.Arg1067Gln) rs752159189 0.00008
NM_002206.3(ITGA7):c.3363C>T (p.Asp1121=) rs372977210 0.00008
NM_003863.4(DPM2):c.-5G>A rs371551833 0.00008
NM_004369.4(COL6A3):c.1063G>A (p.Ala355Thr) rs375022162 0.00008
NM_004369.4(COL6A3):c.1292C>T (p.Pro431Leu) rs144746928 0.00008
NM_004369.4(COL6A3):c.2320T>C (p.Phe774Leu) rs572969883 0.00008
NM_004369.4(COL6A3):c.2600A>T (p.Asn867Ile) rs751459281 0.00008
NM_004369.4(COL6A3):c.34G>A (p.Val12Ile) rs137910388 0.00008
NM_004369.4(COL6A3):c.4116C>T (p.Asn1372=) rs369620378 0.00008
NM_004369.4(COL6A3):c.4595C>T (p.Ala1532Val) rs372247515 0.00008
NM_004369.4(COL6A3):c.4849G>A (p.Ala1617Thr) rs200433282 0.00008
NM_004369.4(COL6A3):c.6045T>C (p.Tyr2015=) rs148877230 0.00008
NM_004369.4(COL6A3):c.6225G>A (p.Pro2075=) rs368711215 0.00008
NM_004369.4(COL6A3):c.6627+18C>A rs778048349 0.00008
NM_004369.4(COL6A3):c.7266A>C (p.Arg2422=) rs778691629 0.00008
NM_004369.4(COL6A3):c.8236G>A (p.Glu2746Lys) rs111395856 0.00008
NM_004369.4(COL6A3):c.8289A>C (p.Lys2763Asn) rs747588645 0.00008
NM_004369.4(COL6A3):c.8436C>T (p.Phe2812=) rs571287679 0.00008
NM_004369.4(COL6A3):c.9358A>C (p.Thr3120Pro) rs141050617 0.00008
NM_004370.6(COL12A1):c.1163C>T (p.Thr388Met) rs201657256 0.00008
NM_004370.6(COL12A1):c.2879C>T (p.Thr960Met) rs200698641 0.00008
NM_004370.6(COL12A1):c.3069C>T (p.Val1023=) rs746395625 0.00008
NM_004370.6(COL12A1):c.3417C>T (p.Asp1139=) rs755878864 0.00008
NM_004370.6(COL12A1):c.5507C>T (p.Thr1836Met) rs200108494 0.00008
NM_004370.6(COL12A1):c.6224G>A (p.Gly2075Asp) rs754228661 0.00008
NM_004393.6(DAG1):c.1280C>T (p.Pro427Leu) rs770985285 0.00008
NM_004393.6(DAG1):c.815C>T (p.Pro272Leu) rs371509534 0.00008
NM_005198.5(CHKB):c.1110C>T (p.Tyr370=) rs754077285 0.00008
NM_005198.5(CHKB):c.581G>A (p.Arg194Gln) rs139818555 0.00008
NM_005198.5(CHKB):c.708C>T (p.Val236=) rs141934594 0.00008
NM_013382.7(POMT2):c.1141T>C (p.Tyr381His) rs369489033 0.00008
NM_013382.7(POMT2):c.133C>T (p.Pro45Ser) rs780976004 0.00008
NM_013382.7(POMT2):c.1386A>C (p.Lys462Asn) rs567557121 0.00008
NM_013382.7(POMT2):c.29C>T (p.Ala10Val) rs183558313 0.00008
NM_013382.7(POMT2):c.439-16T>C rs747572959 0.00008
NM_020451.3(SELENON):c.402G>A (p.Leu134=) rs759256016 0.00008
NM_020451.3(SELENON):c.457G>A (p.Glu153Lys) rs374512346 0.00008
NM_021971.4(GMPPB):c.304G>C (p.Asp102His) rs368542417 0.00008
NM_021971.4(GMPPB):c.30T>C (p.Tyr10=) rs140509231 0.00008
NM_021971.4(GMPPB):c.459A>G (p.Thr153=) rs140968388 0.00008
NM_024301.5(FKRP):c.54T>A (p.Leu18=) rs565563742 0.00008
NM_032237.5(POMK):c.222C>T (p.Cys74=) rs147680806 0.00008
NM_032237.5(POMK):c.704A>G (p.Asn235Ser) rs200742772 0.00008
NM_032237.5(POMK):c.910T>C (p.Phe304Leu) rs757744253 0.00008
NM_032806.6(POMGNT2):c.1123A>G (p.Thr375Ala) rs755833440 0.00008
NM_032806.6(POMGNT2):c.189C>T (p.Gly63=) rs377288837 0.00008
NM_133642.5(LARGE1):c.1131+12A>T rs377316838 0.00008
NM_152490.5(B3GALNT2):c.1069G>A (p.Asp357Asn) rs138443370 0.00008
NM_152490.5(B3GALNT2):c.361+13T>G rs367788823 0.00008
NM_170707.4(LMNA):c.1381-5G>A rs730880133 0.00008
NM_170707.4(LMNA):c.1488+6T>G rs369642101 0.00008
NM_170707.4(LMNA):c.1862C>T (p.Thr621Met) rs765594825 0.00008
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_173660.5(DOK7):c.1084G>A (p.Val362Met) rs760157322 0.00008
NM_173660.5(DOK7):c.1230C>A (p.Ser410Arg) rs200593935 0.00008
NM_173660.5(DOK7):c.1373C>A (p.Ala458Asp) rs778440478 0.00008
NM_173660.5(DOK7):c.1388A>G (p.Glu463Gly) rs769974159 0.00008
NM_173660.5(DOK7):c.213C>T (p.Tyr71=) rs760236131 0.00008
NM_173660.5(DOK7):c.214G>A (p.Glu72Lys) rs770653049 0.00008
NM_173660.5(DOK7):c.54+13C>T rs912327595 0.00008
NM_173660.5(DOK7):c.688C>T (p.Arg230Cys) rs202077864 0.00008
NM_173660.5(DOK7):c.772+8C>T rs199769286 0.00008
NM_173660.5(DOK7):c.804A>G (p.Ser268=) rs781113489 0.00008
NM_000426.4(LAMA2):c.2054T>G (p.Leu685Arg) rs746641607 0.00007
NM_000426.4(LAMA2):c.5179G>C (p.Glu1727Gln) rs374201203 0.00007
NM_000426.4(LAMA2):c.711C>T (p.Ser237=) rs369745832 0.00007
NM_000426.4(LAMA2):c.7486C>T (p.Leu2496Phe) rs970365005 0.00007
NM_001077365.2(POMT1):c.1365+10C>T rs200089530 0.00007
NM_001077365.2(POMT1):c.1448G>A (p.Ser483Asn) rs750937093 0.00007
NM_001077365.2(POMT1):c.1451C>T (p.Thr484Met) rs201220016 0.00007
NM_001077365.2(POMT1):c.1746C>T (p.Ser582=) rs376373313 0.00007
NM_001077365.2(POMT1):c.367G>T (p.Val123Leu) rs1424629668 0.00007
NM_001077365.2(POMT1):c.986+5G>A rs370096853 0.00007
NM_001079802.2(FKTN):c.106-13G>C rs370216581 0.00007
NM_001079802.2(FKTN):c.1212T>G (p.Phe404Leu) rs776724595 0.00007
NM_001101426.4(CRPPA):c.1170C>T (p.Asn390=) rs760178734 0.00007
NM_001101426.4(CRPPA):c.828T>C (p.Ile276=) rs201334104 0.00007
NM_001848.3(COL6A1):c.1612-5T>C rs371587579 0.00007
NM_001848.3(COL6A1):c.1684A>G (p.Ile562Val) rs374315921 0.00007
NM_001848.3(COL6A1):c.1777-16G>A rs199838622 0.00007
NM_001848.3(COL6A1):c.1940G>A (p.Arg647Gln) rs764762208 0.00007
NM_001848.3(COL6A1):c.2044C>T (p.Arg682Trp) rs777378283 0.00007
NM_001848.3(COL6A1):c.2465-7C>T rs376196793 0.00007
NM_001848.3(COL6A1):c.2752G>A (p.Asp918Asn) rs750512162 0.00007
NM_001848.3(COL6A1):c.334G>A (p.Ala112Thr) rs568865339 0.00007
NM_001848.3(COL6A1):c.751G>A (p.Glu251Lys) rs145849970 0.00007
NM_001848.3(COL6A1):c.759+20C>T rs555848716 0.00007
NM_001848.3(COL6A1):c.780G>A (p.Gly260=) rs143396975 0.00007
NM_001849.4(COL6A2):c.1333-15C>T rs759266010 0.00007
NM_001849.4(COL6A2):c.1779C>T (p.Asp593=) rs139571947 0.00007
NM_001849.4(COL6A2):c.1969+10G>C rs201259184 0.00007
NM_001849.4(COL6A2):c.2454C>T (p.Cys818=) rs199499499 0.00007
NM_001849.4(COL6A2):c.2460A>C (p.Thr820=) rs754900547 0.00007
NM_001849.4(COL6A2):c.2462-20G>A rs559932204 0.00007
NM_001849.4(COL6A2):c.2518G>A (p.Gly840Ser) rs373862445 0.00007
NM_001849.4(COL6A2):c.2582G>A (p.Arg861Gln) rs373813975 0.00007
NM_001849.4(COL6A2):c.2880G>A (p.Ser960=) rs375430758 0.00007
NM_001849.4(COL6A2):c.3018G>A (p.Ala1006=) rs61735832 0.00007
NM_001849.4(COL6A2):c.338G>A (p.Ser113Asn) rs770387211 0.00007
NM_001849.4(COL6A2):c.981C>T (p.Asn327=) rs768836349 0.00007
NM_002206.3(ITGA7):c.1505+13C>T rs199932752 0.00007
NM_002206.3(ITGA7):c.1567+8C>T rs755842392 0.00007
NM_002206.3(ITGA7):c.1624C>T (p.Arg542Cys) rs374384926 0.00007
NM_002206.3(ITGA7):c.1625G>A (p.Arg542His) rs17854598 0.00007
NM_002206.3(ITGA7):c.1845C>T (p.Ala615=) rs189525243 0.00007
NM_002206.3(ITGA7):c.2433-6C>T rs371922720 0.00007
NM_002206.3(ITGA7):c.3213C>T (p.Pro1071=) rs559955065 0.00007
NM_002206.3(ITGA7):c.670+15G>A rs201064749 0.00007
NM_004369.4(COL6A3):c.1088G>A (p.Arg363His) rs776329513 0.00007
NM_004369.4(COL6A3):c.1977C>T (p.Arg659=) rs141280228 0.00007
NM_004369.4(COL6A3):c.1996G>A (p.Val666Ile) rs111584250 0.00007
NM_004369.4(COL6A3):c.2864G>A (p.Arg955His) rs112172548 0.00007
NM_004369.4(COL6A3):c.3598G>T (p.Val1200Phe) rs779028054 0.00007
NM_004369.4(COL6A3):c.4064C>T (p.Pro1355Leu) rs140863092 0.00007
NM_004369.4(COL6A3):c.4271G>A (p.Arg1424His) rs149838946 0.00007
NM_004369.4(COL6A3):c.4494G>A (p.Pro1498=) rs374885393 0.00007
NM_004369.4(COL6A3):c.5136A>G (p.Lys1712=) rs748590690 0.00007
NM_004369.4(COL6A3):c.5341A>G (p.Ile1781Val) rs145447965 0.00007
NM_004369.4(COL6A3):c.5544C>A (p.Asp1848Glu) rs531282669 0.00007
NM_004369.4(COL6A3):c.6768C>T (p.Ala2256=) rs550085228 0.00007
NM_004369.4(COL6A3):c.707C>T (p.Thr236Ile) rs886044270 0.00007
NM_004369.4(COL6A3):c.7376G>A (p.Arg2459Gln) rs777496872 0.00007
NM_004369.4(COL6A3):c.8695A>G (p.Ile2899Val) rs115839474 0.00007
NM_004370.6(COL12A1):c.1134C>T (p.His378=) rs376523503 0.00007
NM_004370.6(COL12A1):c.188C>T (p.Thr63Met) rs374544349 0.00007
NM_004370.6(COL12A1):c.2951G>A (p.Gly984Glu) rs376514006 0.00007
NM_004370.6(COL12A1):c.4187G>A (p.Arg1396Gln) rs370549168 0.00007
NM_004370.6(COL12A1):c.4288-12T>A rs377491153 0.00007
NM_004370.6(COL12A1):c.4644C>T (p.Val1548=) rs747738369 0.00007
NM_004370.6(COL12A1):c.5483C>T (p.Pro1828Leu) rs373011926 0.00007
NM_004370.6(COL12A1):c.5939T>G (p.Ile1980Arg) rs540867293 0.00007
NM_004370.6(COL12A1):c.8420G>A (p.Arg2807His) rs186328815 0.00007
NM_004393.6(DAG1):c.183T>C (p.Val61=) rs775928044 0.00007
NM_005198.5(CHKB):c.219C>T (p.Pro73=) rs751273046 0.00007
NM_005198.5(CHKB):c.737-14C>T rs961307091 0.00007
NM_005198.5(CHKB):c.928-19T>A rs373763595 0.00007
NM_006876.3(B4GAT1):c.1206G>A (p.Gln402=) rs771065781 0.00007
NM_006876.3(B4GAT1):c.924G>A (p.Pro308=) rs200574075 0.00007
NM_013382.7(POMT2):c.1552G>A (p.Val518Met) rs200762716 0.00007
NM_013382.7(POMT2):c.1887T>G (p.Val629=) rs145942005 0.00007
NM_013382.7(POMT2):c.2032+7G>C rs371121278 0.00007
NM_017739.4(POMGNT1):c.1299G>A (p.Thr433=) rs187954010 0.00007
NM_017739.4(POMGNT1):c.1605-8C>T rs535331969 0.00007
NM_017739.4(POMGNT1):c.266G>A (p.Arg89Gln) rs200042607 0.00007
NM_020451.3(SELENON):c.253A>G (p.Met85Val) rs761605974 0.00007
NM_021971.4(GMPPB):c.621A>G (p.Leu207=) rs369255307 0.00007
NM_024301.5(FKRP):c.1266C>G (p.Pro422=) rs374056230 0.00007
NM_024301.5(FKRP):c.360C>T (p.Tyr120=) rs781576638 0.00007
NM_032237.5(POMK):c.1024A>G (p.Met342Val) rs762404960 0.00007
NM_032237.5(POMK):c.219C>G (p.Ser73=) rs188920070 0.00007
NM_032806.6(POMGNT2):c.1455G>A (p.Val485=) rs145017190 0.00007
NM_032806.6(POMGNT2):c.499G>A (p.Val167Ile) rs201333414 0.00007
NM_032806.6(POMGNT2):c.83A>G (p.His28Arg) rs766508088 0.00007
NM_133642.5(LARGE1):c.119T>C (p.Val40Ala) rs148383806 0.00007
NM_133642.5(LARGE1):c.1277A>C (p.Asn426Thr) rs369552267 0.00007
NM_133642.5(LARGE1):c.857G>A (p.Arg286His) rs200035534 0.00007
NM_152490.5(B3GALNT2):c.633A>G (p.Glu211=) rs746548557 0.00007
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile) rs267607606 0.00007
NM_170707.4(LMNA):c.1488+7G>A rs374209100 0.00007
NM_173660.5(DOK7):c.1457C>T (p.Pro486Leu) rs200015934 0.00007
NM_173660.5(DOK7):c.297G>A (p.Ala99=) rs201351460 0.00007
NM_173660.5(DOK7):c.903A>C (p.Pro301=) rs145040126 0.00007
NM_000426.4(LAMA2):c.1300C>T (p.Arg434Ter) rs1374568851 0.00006
NM_000426.4(LAMA2):c.3662T>G (p.Met1221Arg) rs140895872 0.00006
NM_000426.4(LAMA2):c.3862G>A (p.Val1288Ile) rs758134778 0.00006
NM_000426.4(LAMA2):c.409G>A (p.Ala137Thr) rs368349321 0.00006
NM_000426.4(LAMA2):c.5072-9C>A rs770904109 0.00006
NM_000426.4(LAMA2):c.5158G>C (p.Glu1720Gln) rs760572086 0.00006
NM_000426.4(LAMA2):c.5260del (p.Lys1753_Val1754insTer) rs794727594 0.00006
NM_000426.4(LAMA2):c.7978C>A (p.Leu2660Ile) rs201587923 0.00006
NM_000426.4(LAMA2):c.8326A>T (p.Ile2776Phe) rs569286697 0.00006
NM_000426.4(LAMA2):c.8524A>G (p.Ile2842Val) rs140178576 0.00006
NM_000426.4(LAMA2):c.8836G>A (p.Gly2946Arg) rs370843758 0.00006
NM_000426.4(LAMA2):c.9145C>G (p.Gln3049Glu) rs146525742 0.00006
NM_001077365.2(POMT1):c.*37G>A rs201474628 0.00006
NM_001077365.2(POMT1):c.1163G>A (p.Arg388His) rs138640226 0.00006
NM_001077365.2(POMT1):c.1251C>T (p.Pro417=) rs376749638 0.00006
NM_001077365.2(POMT1):c.1253C>T (p.Ala418Val) rs369651101 0.00006
NM_001077365.2(POMT1):c.1486+9G>A rs547775333 0.00006
NM_001077365.2(POMT1):c.1698+7G>A rs367775263 0.00006
NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu) rs757903559 0.00006
NM_001077365.2(POMT1):c.2031C>T (p.Ser677=) rs778418119 0.00006
NM_001077365.2(POMT1):c.2059G>A (p.Ala687Thr) rs535544133 0.00006
NM_001077365.2(POMT1):c.30G>A (p.Val10=) rs201533471 0.00006
NM_001077365.2(POMT1):c.332C>T (p.Ala111Val) rs371531181 0.00006
NM_001077365.2(POMT1):c.579_580del (p.Val195fs) rs1032439203 0.00006
NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg) rs747506380 0.00006
NM_001079802.2(FKTN):c.*2254A>G rs764218622 0.00006
NM_001079802.2(FKTN):c.781-9T>C rs370564232 0.00006
NM_001079802.2(FKTN):c.869A>T (p.Lys290Ile) rs755092516 0.00006
NM_001079802.2(FKTN):c.929A>G (p.Asn310Ser) rs776639304 0.00006
NM_001101426.4(CRPPA):c.226C>G (p.Leu76Val) rs939213590 0.00006
NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln) rs773739293 0.00006
NM_001848.3(COL6A1):c.1234G>A (p.Glu412Lys) rs751779784 0.00006
NM_001848.3(COL6A1):c.1315C>T (p.Arg439Trp) rs368239109 0.00006
NM_001848.3(COL6A1):c.1377C>T (p.Pro459=) rs750717663 0.00006
NM_001848.3(COL6A1):c.1462-8C>T rs199849694 0.00006
NM_001848.3(COL6A1):c.1553C>A (p.Thr518Asn) rs201935658 0.00006
NM_001848.3(COL6A1):c.1557G>C (p.Glu519Asp) rs755375448 0.00006
NM_001848.3(COL6A1):c.1611+20C>T rs369940697 0.00006
NM_001848.3(COL6A1):c.1740+13G>T rs758377899 0.00006
NM_001848.3(COL6A1):c.1829A>C (p.Lys610Thr) rs768906709 0.00006
NM_001848.3(COL6A1):c.1854C>T (p.Phe618=) rs372069776 0.00006
NM_001848.3(COL6A1):c.1855G>A (p.Val619Met) rs150938324 0.00006
NM_001848.3(COL6A1):c.2029C>T (p.Arg677Cys) rs189623561 0.00006
NM_001848.3(COL6A1):c.2157G>A (p.Pro719=) rs377152990 0.00006
NM_001848.3(COL6A1):c.2165G>A (p.Arg722His) rs758242849 0.00006
NM_001848.3(COL6A1):c.2191C>T (p.Arg731Cys) rs398123635 0.00006
NM_001848.3(COL6A1):c.2275G>A (p.Val759Met) rs373383488 0.00006
NM_001848.3(COL6A1):c.2348G>A (p.Arg783Gln) rs200261890 0.00006
NM_001848.3(COL6A1):c.2355C>A (p.Gly785=) rs149910296 0.00006
NM_001848.3(COL6A1):c.2434+19G>A rs571644858 0.00006
NM_001848.3(COL6A1):c.2573G>A (p.Arg858His) rs537763400 0.00006
NM_001848.3(COL6A1):c.261C>T (p.Asn87=) rs770671793 0.00006
NM_001848.3(COL6A1):c.2653C>T (p.Arg885Cys) rs746298580 0.00006
NM_001848.3(COL6A1):c.2745C>T (p.Asp915=) rs751865624 0.00006
NM_001848.3(COL6A1):c.2746G>A (p.Val916Ile) rs563043611 0.00006
NM_001848.3(COL6A1):c.2911G>A (p.Val971Met) rs769795690 0.00006
NM_001848.3(COL6A1):c.2919C>T (p.Val973=) rs764490258 0.00006
NM_001848.3(COL6A1):c.356C>T (p.Ala119Val) rs571641824 0.00006
NM_001848.3(COL6A1):c.357G>A (p.Ala119=) rs747037863 0.00006
NM_001848.3(COL6A1):c.588+19C>T rs775893001 0.00006
NM_001848.3(COL6A1):c.595C>T (p.Arg199Cys) rs749628937 0.00006
NM_001848.3(COL6A1):c.717+4A>G rs762867111 0.00006
NM_001848.3(COL6A1):c.739-5C>G rs369946755 0.00006
NM_001848.3(COL6A1):c.789C>T (p.Gly263=) rs148364156 0.00006
NM_001848.3(COL6A1):c.795C>T (p.Pro265=) rs370641081 0.00006
NM_001848.3(COL6A1):c.924G>C (p.Gly308=) rs374654116 0.00006
NM_001849.4(COL6A2):c.1053+6G>A rs373181368 0.00006
NM_001849.4(COL6A2):c.1060G>A (p.Asp354Asn) rs188184732 0.00006
NM_001849.4(COL6A2):c.1071G>A (p.Pro357=) rs746727003 0.00006
NM_001849.4(COL6A2):c.1097G>A (p.Arg366Gln) rs368588676 0.00006
NM_001849.4(COL6A2):c.1348G>C (p.Glu450Gln) rs757846451 0.00006
NM_001849.4(COL6A2):c.1606G>A (p.Glu536Lys) rs143338050 0.00006
NM_001849.4(COL6A2):c.1671+17C>T rs372188653 0.00006
NM_001849.4(COL6A2):c.1671+18G>A rs202115968 0.00006
NM_001849.4(COL6A2):c.1702C>T (p.Pro568Ser) rs140097446 0.00006
NM_001849.4(COL6A2):c.188C>T (p.Thr63Met) rs201094892 0.00006
NM_001849.4(COL6A2):c.1926C>G (p.Val642=) rs770537140 0.00006
NM_001849.4(COL6A2):c.196C>T (p.Leu66=) rs201055113 0.00006
NM_001849.4(COL6A2):c.2016G>A (p.Glu672=) rs146323303 0.00006
NM_001849.4(COL6A2):c.2043C>T (p.Ile681=) rs373514837 0.00006
NM_001849.4(COL6A2):c.2083G>A (p.Glu695Lys) rs377376395 0.00006
NM_001849.4(COL6A2):c.2238G>A (p.Ala746=) rs535581551 0.00006
NM_001849.4(COL6A2):c.2245G>A (p.Asp749Asn) rs372913372 0.00006
NM_001849.4(COL6A2):c.2313C>T (p.Asn771=) rs373731822 0.00006
NM_001849.4(COL6A2):c.2422+6C>T rs371950486 0.00006
NM_001849.4(COL6A2):c.2493C>T (p.Pro831=) rs771772739 0.00006
NM_001849.4(COL6A2):c.2523C>T (p.Ser841=) rs149697707 0.00006
NM_001849.4(COL6A2):c.2538G>A (p.Glu846=) rs144475977 0.00006
NM_001849.4(COL6A2):c.2634G>A (p.Ala878=) rs143749884 0.00006
NM_001849.4(COL6A2):c.2659G>A (p.Glu887Lys) rs886043283 0.00006
NM_001849.4(COL6A2):c.2707G>A (p.Glu903Lys) rs373611722 0.00006
NM_001849.4(COL6A2):c.2712G>A (p.Ala904=) rs139116075 0.00006
NM_001849.4(COL6A2):c.2754C>T (p.Gly918=) rs765055618 0.00006
NM_001849.4(COL6A2):c.2810G>A (p.Arg937Gln) rs777354703 0.00006
NM_001849.4(COL6A2):c.2874C>T (p.His958=) rs765550338 0.00006
NM_001849.4(COL6A2):c.2883G>A (p.Ala961=) rs369756029 0.00006
NM_001849.4(COL6A2):c.289G>A (p.Gly97Ser) rs750027302 0.00006
NM_001849.4(COL6A2):c.2917G>A (p.Val973Met) rs145959270 0.00006
NM_001849.4(COL6A2):c.2978G>A (p.Arg993His) rs544436881 0.00006
NM_001849.4(COL6A2):c.2994C>T (p.His998=) rs376362856 0.00006
NM_001849.4(COL6A2):c.356T>C (p.Ile119Thr) rs374011338 0.00006
NM_001849.4(COL6A2):c.402C>T (p.Thr134=) rs201221113 0.00006
NM_001849.4(COL6A2):c.464A>G (p.His155Arg) rs148187245 0.00006
NM_001849.4(COL6A2):c.525G>A (p.Leu175=) rs754034094 0.00006
NM_001849.4(COL6A2):c.698G>A (p.Arg233His) rs146742517 0.00006
NM_001849.4(COL6A2):c.856-14G>A rs759917394 0.00006
NM_002206.3(ITGA7):c.1266C>T (p.Val422=) rs1475493786 0.00006
NM_002206.3(ITGA7):c.1402C>G (p.Leu468Val) rs959396943 0.00006
NM_002206.3(ITGA7):c.1811G>A (p.Arg604Gln) rs764577574 0.00006
NM_002206.3(ITGA7):c.2196+18G>A rs368745819 0.00006
NM_002206.3(ITGA7):c.2536-19T>C rs778684706 0.00006
NM_002206.3(ITGA7):c.2612A>G (p.Asn871Ser) rs768368830 0.00006
NM_002206.3(ITGA7):c.2625G>A (p.Leu875=) rs370716816 0.00006
NM_002206.3(ITGA7):c.2685C>T (p.Cys895=) rs767023007 0.00006
NM_002206.3(ITGA7):c.2909C>T (p.Ala970Val) rs201354330 0.00006
NM_002206.3(ITGA7):c.3174C>T (p.Leu1058=) rs377148751 0.00006
NM_002206.3(ITGA7):c.3299T>C (p.Leu1100Pro) rs370654924 0.00006
NM_002206.3(ITGA7):c.404G>T (p.Gly135Val) rs745534478 0.00006
NM_002206.3(ITGA7):c.427C>T (p.Arg143Ter) rs17854600 0.00006
NM_002206.3(ITGA7):c.63C>G (p.Ser21=) rs368615107 0.00006
NM_002206.3(ITGA7):c.69C>T (p.Leu23=) rs146932796 0.00006
NM_002206.3(ITGA7):c.790+9G>A rs768214392 0.00006
NM_002206.3(ITGA7):c.795C>T (p.Phe265=) rs750996292 0.00006
NM_003863.4(DPM2):c.102C>T (p.Ile34=) rs777078287 0.00006
NM_003863.4(DPM2):c.3+14C>A rs375782774 0.00006
NM_004369.4(COL6A3):c.1208C>T (p.Pro403Leu) rs547651808 0.00006
NM_004369.4(COL6A3):c.1313-7C>T rs764201905 0.00006
NM_004369.4(COL6A3):c.1420A>G (p.Arg474Gly) rs928706699 0.00006
NM_004369.4(COL6A3):c.1826G>A (p.Arg609Gln) rs149330325 0.00006
NM_004369.4(COL6A3):c.2302C>T (p.Arg768Cys) rs200722892 0.00006
NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val) rs753966526 0.00006
NM_004369.4(COL6A3):c.2523C>T (p.Leu841=) rs142876356 0.00006
NM_004369.4(COL6A3):c.2567G>A (p.Arg856His) rs147897225 0.00006
NM_004369.4(COL6A3):c.2643C>T (p.Ser881=) rs550122375 0.00006
NM_004369.4(COL6A3):c.2754C>T (p.Tyr918=) rs114492689 0.00006
NM_004369.4(COL6A3):c.3286C>T (p.Arg1096Cys) rs114852262 0.00006
NM_004369.4(COL6A3):c.3330C>T (p.Ala1110=) rs111328076 0.00006
NM_004369.4(COL6A3):c.3508G>A (p.Ala1170Thr) rs754847515 0.00006
NM_004369.4(COL6A3):c.3679+17T>G rs553819631 0.00006
NM_004369.4(COL6A3):c.3732C>T (p.Ala1244=) rs193265138 0.00006
NM_004369.4(COL6A3):c.3944C>T (p.Ala1315Val) rs778458923 0.00006
NM_004369.4(COL6A3):c.4048G>A (p.Asp1350Asn) rs752977410 0.00006
NM_004369.4(COL6A3):c.461C>T (p.Ser154Leu) rs147701785 0.00006
NM_004369.4(COL6A3):c.4662C>T (p.Asp1554=) rs764225803 0.00006
NM_004369.4(COL6A3):c.4677C>T (p.Phe1559=) rs147215386 0.00006
NM_004369.4(COL6A3):c.4894C>T (p.Arg1632Trp) rs113755498 0.00006
NM_004369.4(COL6A3):c.4900+10G>A rs189411873 0.00006
NM_004369.4(COL6A3):c.5470C>T (p.Leu1824Phe) rs114131542 0.00006
NM_004369.4(COL6A3):c.550G>A (p.Ala184Thr) rs767499336 0.00006
NM_004369.4(COL6A3):c.5635G>A (p.Gly1879Ser) rs760603443 0.00006
NM_004369.4(COL6A3):c.5693T>C (p.Val1898Ala) rs774606469 0.00006
NM_004369.4(COL6A3):c.5716T>C (p.Tyr1906His) rs148613877 0.00006
NM_004369.4(COL6A3):c.5744G>A (p.Arg1915Gln) rs374825188 0.00006
NM_004369.4(COL6A3):c.5975T>C (p.Met1992Thr) rs375613015 0.00006
NM_004369.4(COL6A3):c.6289C>T (p.Arg2097Trp) rs148252611 0.00006
NM_004369.4(COL6A3):c.6470C>T (p.Pro2157Leu) rs372281922 0.00006
NM_004369.4(COL6A3):c.6898G>A (p.Gly2300Arg) rs763348222 0.00006
NM_004369.4(COL6A3):c.6930+4C>T rs375657891 0.00006
NM_004369.4(COL6A3):c.7331G>A (p.Arg2444Gln) rs895701604 0.00006
NM_004369.4(COL6A3):c.7342G>T (p.Val2448Phe) rs768564642 0.00006
NM_004369.4(COL6A3):c.7558A>T (p.Thr2520Ser) rs144152285 0.00006
NM_004369.4(COL6A3):c.7590G>A (p.Val2530=) rs115591088 0.00006
NM_004369.4(COL6A3):c.7755T>C (p.His2585=) rs145581705 0.00006
NM_004369.4(COL6A3):c.7832C>T (p.Ala2611Val) rs114806654 0.00006
NM_004369.4(COL6A3):c.8140G>T (p.Ala2714Ser) rs748491825 0.00006
NM_004369.4(COL6A3):c.8627C>T (p.Pro2876Leu) rs367635298 0.00006
NM_004369.4(COL6A3):c.8826G>A (p.Ala2942=) rs751580746 0.00006
NM_004369.4(COL6A3):c.9116C>T (p.Thr3039Met) rs116655315 0.00006
NM_004369.4(COL6A3):c.9508G>A (p.Gly3170Arg) rs568632361 0.00006
NM_004370.6(COL12A1):c.1574A>T (p.Tyr525Phe) rs756100330 0.00006
NM_004370.6(COL12A1):c.2372C>T (p.Ser791Phe) rs376517147 0.00006
NM_004370.6(COL12A1):c.2480C>T (p.Thr827Met) rs149832668 0.00006
NM_004370.6(COL12A1):c.2536G>A (p.Val846Ile) rs368113790 0.00006
NM_004370.6(COL12A1):c.2658G>A (p.Leu886=) rs376957850 0.00006
NM_004370.6(COL12A1):c.2662G>C (p.Ala888Pro) rs373259425 0.00006
NM_004370.6(COL12A1):c.2714G>A (p.Arg905His) rs369193482 0.00006
NM_004370.6(COL12A1):c.2746A>G (p.Ile916Val) rs200819563 0.00006
NM_004370.6(COL12A1):c.3219A>G (p.Glu1073=) rs201270183 0.00006
NM_004370.6(COL12A1):c.3279C>G (p.Leu1093=) rs536622585 0.00006
NM_004370.6(COL12A1):c.3714T>C (p.Ile1238=) rs752068052 0.00006
NM_004370.6(COL12A1):c.3952G>A (p.Ala1318Thr) rs41269309 0.00006
NM_004370.6(COL12A1):c.4518A>G (p.Ser1506=) rs201039857 0.00006
NM_004370.6(COL12A1):c.5230C>T (p.Leu1744=) rs552834799 0.00006
NM_004370.6(COL12A1):c.525G>A (p.Glu175=) rs199736979 0.00006
NM_004370.6(COL12A1):c.5478G>C (p.Leu1826=) rs201965731 0.00006
NM_004370.6(COL12A1):c.5615G>A (p.Arg1872His) rs770194625 0.00006
NM_004370.6(COL12A1):c.5762A>G (p.Asp1921Gly) rs757348453 0.00006
NM_004370.6(COL12A1):c.5763T>C (p.Asp1921=) rs144223578 0.00006
NM_004370.6(COL12A1):c.5799G>A (p.Met1933Ile) rs372482618 0.00006
NM_004370.6(COL12A1):c.5857C>T (p.Arg1953Cys) rs777948762 0.00006
NM_004370.6(COL12A1):c.6073C>T (p.Arg2025Cys) rs534778154 0.00006
NM_004370.6(COL12A1):c.6074G>A (p.Arg2025His) rs34336755 0.00006
NM_004370.6(COL12A1):c.62T>C (p.Ile21Thr) rs576888932 0.00006
NM_004370.6(COL12A1):c.6541G>A (p.Asp2181Asn) rs368397177 0.00006
NM_004370.6(COL12A1):c.6618T>C (p.Asn2206=) rs1035643006 0.00006
NM_004370.6(COL12A1):c.6829C>G (p.Pro2277Ala) rs758182752 0.00006
NM_004370.6(COL12A1):c.7215G>A (p.Lys2405=) rs568748031 0.00006
NM_004370.6(COL12A1):c.7338G>T (p.Leu2446Phe) rs763858637 0.00006
NM_004370.6(COL12A1):c.7432C>T (p.Arg2478Trp) rs769219928 0.00006
NM_004370.6(COL12A1):c.7520-17A>G rs770500462 0.00006
NM_004370.6(COL12A1):c.7558+16T>C rs754091668 0.00006
NM_004370.6(COL12A1):c.7656A>G (p.Ala2552=) rs763305624 0.00006
NM_004370.6(COL12A1):c.7698-3C>T rs760246080 0.00006
NM_004393.6(DAG1):c.1101G>A (p.Thr367=) rs142406476 0.00006
NM_004393.6(DAG1):c.1471G>A (p.Gly491Arg) rs199728911 0.00006
NM_004393.6(DAG1):c.1690C>A (p.Leu564Ile) rs199894361 0.00006
NM_004393.6(DAG1):c.1708G>A (p.Val570Met) rs370669533 0.00006
NM_004393.6(DAG1):c.1773C>T (p.Phe591=) rs2229010 0.00006
NM_004393.6(DAG1):c.244A>G (p.Ile82Val) rs141706514 0.00006
NM_004393.6(DAG1):c.2576A>G (p.Asn859Ser) rs754079735 0.00006
NM_004393.6(DAG1):c.293C>T (p.Ala98Val) rs200871775 0.00006
NM_004393.6(DAG1):c.349C>T (p.Leu117=) rs146011758 0.00006
NM_004393.6(DAG1):c.510C>A (p.Ala170=) rs147153370 0.00006
NM_004393.6(DAG1):c.735G>A (p.Pro245=) rs748164001 0.00006
NM_004393.6(DAG1):c.829G>A (p.Val277Ile) rs375892170 0.00006
NM_004393.6(DAG1):c.927C>T (p.Arg309=) rs551679833 0.00006
NM_005198.5(CHKB):c.1037C>T (p.Ala346Val) rs772616505 0.00006
NM_005198.5(CHKB):c.1111T>A (p.Leu371Met) rs372078948 0.00006
NM_005198.5(CHKB):c.140G>A (p.Arg47His) rs893001695 0.00006
NM_005198.5(CHKB):c.151C>T (p.Gln51Ter) rs373091820 0.00006
NM_005198.5(CHKB):c.476G>A (p.Arg159Gln) rs760539135 0.00006
NM_005198.5(CHKB):c.709G>A (p.Val237Ile) rs184254424 0.00006
NM_005198.5(CHKB):c.980C>T (p.Ser327Phe) rs371355721 0.00006
NM_006876.3(B4GAT1):c.1100A>G (p.Asn367Ser) rs1024259166 0.00006
NM_006876.3(B4GAT1):c.162G>T (p.Arg54=) rs751180898 0.00006
NM_006876.3(B4GAT1):c.355C>A (p.Pro119Thr) rs201892419 0.00006
NM_006876.3(B4GAT1):c.582G>C (p.Gln194His) rs377415983 0.00006
NM_013382.7(POMT2):c.*1548G>A rs902166672 0.00006
NM_013382.7(POMT2):c.*1818T>C rs1010549526 0.00006
NM_013382.7(POMT2):c.*637C>G rs1327896686 0.00006
NM_013382.7(POMT2):c.1396C>T (p.Arg466Trp) rs763119319 0.00006
NM_013382.7(POMT2):c.1484+17T>C rs769039137 0.00006
NM_013382.7(POMT2):c.1485-3C>T rs754892193 0.00006
NM_013382.7(POMT2):c.160G>T (p.Ala54Ser) rs1239345534 0.00006
NM_013382.7(POMT2):c.1726-9A>G rs747493997 0.00006
NM_013382.7(POMT2):c.1785+20C>T rs371727483 0.00006
NM_013382.7(POMT2):c.1871G>A (p.Arg624Gln) rs369365744 0.00006
NM_013382.7(POMT2):c.1936G>A (p.Gly646Ser) rs767592155 0.00006
NM_013382.7(POMT2):c.2112G>A (p.Ala704=) rs548359755 0.00006
NM_013382.7(POMT2):c.237G>A (p.Pro79=) rs201322445 0.00006
NM_013382.7(POMT2):c.640A>C (p.Asn214His) rs376485603 0.00006
NM_013382.7(POMT2):c.657-18C>T rs759654244 0.00006
NM_013382.7(POMT2):c.936C>T (p.Asp312=) rs186690580 0.00006
NM_016213.5(TRIP4):c.950G>A (p.Arg317Gln) rs200549601 0.00006
NM_017739.4(POMGNT1):c.1111-6T>C rs751751349 0.00006
NM_017739.4(POMGNT1):c.1111-9C>T rs757533535 0.00006
NM_017739.4(POMGNT1):c.1539C>T (p.His513=) rs569297597 0.00006
NM_017739.4(POMGNT1):c.1826G>A (p.Arg609Gln) rs371741722 0.00006
NM_017739.4(POMGNT1):c.188G>A (p.Arg63Gln) rs141421141 0.00006
NM_017739.4(POMGNT1):c.1896-20T>A rs200416465 0.00006
NM_017739.4(POMGNT1):c.38T>C (p.Phe13Ser) rs377724143 0.00006
NM_017739.4(POMGNT1):c.986C>T (p.Ser329Phe) rs772102300 0.00006
NM_020451.3(SELENON):c.1078G>A (p.Gly360Ser) rs761873230 0.00006
NM_020451.3(SELENON):c.1191G>T (p.Gln397His) rs1311923186 0.00006
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln) rs121908185 0.00006
NM_020451.3(SELENON):c.1636A>G (p.Ile546Val) rs749237378 0.00006
NM_020451.3(SELENON):c.465G>A (p.Thr155=) rs753774853 0.00006
NM_020451.3(SELENON):c.501G>A (p.Pro167=) rs752707301 0.00006
NM_020451.3(SELENON):c.717C>T (p.Arg239=) rs377562721 0.00006
NM_020451.3(SELENON):c.732G>A (p.Pro244=) rs200765195 0.00006
NM_020451.3(SELENON):c.909C>T (p.Asp303=) rs748756250 0.00006
NM_021971.4(GMPPB):c.554G>A (p.Arg185His) rs755165049 0.00006
NM_021971.4(GMPPB):c.859C>T (p.Arg287Trp) rs142908436 0.00006
NM_021971.4(GMPPB):c.869C>T (p.Thr290Met) rs139668958 0.00006
NM_024301.5(FKRP):c.1140G>A (p.Gly380=) rs552260353 0.00006
NM_024301.5(FKRP):c.1386T>G (p.Pro462=) rs776825755 0.00006
NM_024301.5(FKRP):c.541C>A (p.Arg181Ser) rs777245868 0.00006
NM_024301.5(FKRP):c.562G>A (p.Ala188Thr) rs746905689 0.00006
NM_024301.5(FKRP):c.563C>T (p.Ala188Val) rs768762059 0.00006
NM_024301.5(FKRP):c.632C>T (p.Ser211Leu) rs750041378 0.00006
NM_024301.5(FKRP):c.633G>A (p.Ser211=) rs921883036 0.00006
NM_032237.5(POMK):c.407C>T (p.Thr136Met) rs138216719 0.00006
NM_032237.5(POMK):c.701T>C (p.Val234Ala) rs185390123 0.00006
NM_032237.5(POMK):c.726G>A (p.Val242=) rs779226611 0.00006
NM_032237.5(POMK):c.978C>T (p.Asp326=) rs377648307 0.00006
NM_032806.6(POMGNT2):c.1387C>T (p.Arg463Cys) rs376177936 0.00006
NM_032806.6(POMGNT2):c.1406C>T (p.Pro469Leu) rs369787177 0.00006
NM_032806.6(POMGNT2):c.1593G>A (p.Glu531=) rs368787205 0.00006
NM_032806.6(POMGNT2):c.161C>T (p.Pro54Leu) rs748576103 0.00006
NM_032806.6(POMGNT2):c.219G>A (p.Thr73=) rs138728885 0.00006
NM_032806.6(POMGNT2):c.377A>G (p.Asn126Ser) rs750654109 0.00006
NM_032806.6(POMGNT2):c.396C>G (p.Phe132Leu) rs150567400 0.00006
NM_032806.6(POMGNT2):c.421C>T (p.Arg141Cys) rs150758981 0.00006
NM_032806.6(POMGNT2):c.646C>T (p.Leu216=) rs1403289209 0.00006
NM_032806.6(POMGNT2):c.829G>A (p.Val277Met) rs191081141 0.00006
NM_032806.6(POMGNT2):c.856G>A (p.Glu286Lys) rs760408813 0.00006
NM_032806.6(POMGNT2):c.935A>G (p.Gln312Arg) rs375879947 0.00006
NM_058174.3(COL6A2):c.2554C>T (p.Gln852Ter) rs777172978 0.00006
NM_133642.5(LARGE1):c.*186C>T rs780030367 0.00006
NM_133642.5(LARGE1):c.-242C>T rs886057462 0.00006
NM_133642.5(LARGE1):c.-277T>G rs886057464 0.00006
NM_133642.5(LARGE1):c.-287A>G rs886057465 0.00006
NM_133642.5(LARGE1):c.-83+63184A>C rs759992064 0.00006
NM_133642.5(LARGE1):c.1005+17G>A rs371887551 0.00006
NM_133642.5(LARGE1):c.118G>A (p.Val40Met) rs188675457 0.00006
NM_133642.5(LARGE1):c.131C>T (p.Pro44Leu) rs143437080 0.00006
NM_133642.5(LARGE1):c.1521C>A (p.Asp507Glu) rs1312649028 0.00006
NM_133642.5(LARGE1):c.1578C>T (p.Arg526=) rs200229228 0.00006
NM_133642.5(LARGE1):c.1584C>T (p.Asn528=) rs113492643 0.00006
NM_133642.5(LARGE1):c.1928G>A (p.Arg643Gln) rs151199006 0.00006
NM_133642.5(LARGE1):c.2255C>G (p.Ala752Gly) rs200024875 0.00006
NM_133642.5(LARGE1):c.252C>T (p.Ser84=) rs56202589 0.00006
NM_133642.5(LARGE1):c.534G>C (p.Ala178=) rs772655607 0.00006
NM_133642.5(LARGE1):c.941A>T (p.Gln314Leu) rs149747266 0.00006
NM_133642.5(LARGE1):c.99C>T (p.Ser33=) rs377353667 0.00006
NM_152490.5(B3GALNT2):c.1019A>G (p.Tyr340Cys) rs773864097 0.00006
NM_152490.5(B3GALNT2):c.574C>T (p.Arg192Cys) rs144258088 0.00006
NM_152490.5(B3GALNT2):c.790T>A (p.Phe264Ile) rs779469431 0.00006
NM_153741.2(DPM3):c.248C>T (p.Ala83Val) rs777586354 0.00006
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603 0.00006
NM_173660.5(DOK7):c.1014C>T (p.Ser338=) rs768867580 0.00006
NM_173660.5(DOK7):c.1107G>A (p.Leu369=) rs778918520 0.00006
NM_173660.5(DOK7):c.1133C>T (p.Ala378Val) rs371846002 0.00006
NM_173660.5(DOK7):c.1170C>T (p.Pro390=) rs199525739 0.00006
NM_173660.5(DOK7):c.1393A>G (p.Thr465Ala) rs765625554 0.00006
NM_173660.5(DOK7):c.1435G>A (p.Gly479Ser) rs140519765 0.00006
NM_173660.5(DOK7):c.1483T>G (p.Cys495Gly) rs775074100 0.00006
NM_173660.5(DOK7):c.155G>A (p.Arg52Gln) rs201953114 0.00006
NM_173660.5(DOK7):c.229A>G (p.Thr77Ala) rs759395609 0.00006
NM_173660.5(DOK7):c.327C>T (p.Gly109=) rs377367035 0.00006
NM_173660.5(DOK7):c.532+9G>A rs374795386 0.00006
NM_173660.5(DOK7):c.54+32G>C rs763739780 0.00006
NM_173660.5(DOK7):c.639G>A (p.Arg213=) rs1411499971 0.00006
NM_173660.5(DOK7):c.653-9C>G rs1350076940 0.00006
NM_173660.5(DOK7):c.882G>A (p.Thr294=) rs369425286 0.00006
NM_173660.5(DOK7):c.922G>A (p.Gly308Arg) rs759691572 0.00006
NM_173660.5(DOK7):c.973C>T (p.Arg325Trp) rs376280466 0.00006
NM_173660.5(DOK7):c.974G>A (p.Arg325Gln) rs750929473 0.00006
NM_173660.5(DOK7):c.996C>T (p.Arg332=) rs781199587 0.00006
NM_000426.4(LAMA2):c.1084A>T (p.Arg362Ter) rs191912891 0.00005
NM_000426.4(LAMA2):c.1586G>A (p.Ser529Asn) rs370691060 0.00005
NM_000426.4(LAMA2):c.3403A>C (p.Thr1135Pro) rs760558443 0.00005
NM_000426.4(LAMA2):c.5562+1G>A rs376014152 0.00005
NM_000426.4(LAMA2):c.8570A>G (p.Gln2857Arg) rs372956200 0.00005
NM_001077365.2(POMT1):c.1366-6C>T rs781702944 0.00005
NM_001077365.2(POMT1):c.1444G>A (p.Gly482Arg) rs372354077 0.00005
NM_001077365.2(POMT1):c.1487-5G>T rs747783069 0.00005
NM_001077365.2(POMT1):c.1565C>T (p.Ala522Val) rs374402055 0.00005
NM_001077365.2(POMT1):c.1823A>G (p.Gln608Arg) rs145021255 0.00005
NM_001077365.2(POMT1):c.1825+17C>T rs200195080 0.00005
NM_001077365.2(POMT1):c.1866C>T (p.Ala622=) rs200652115 0.00005
NM_001077365.2(POMT1):c.198G>A (p.Pro66=) rs369877185 0.00005
NM_001077365.2(POMT1):c.389A>C (p.His130Pro) rs752880907 0.00005
NM_001077365.2(POMT1):c.425T>C (p.Ile142Thr) rs746950128 0.00005
NM_001077365.2(POMT1):c.868C>T (p.Arg290Trp) rs886042627 0.00005
NM_001079802.2(FKTN):c.*954T>A rs886063323 0.00005
NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln) rs143748939 0.00005
NM_001079802.2(FKTN):c.822G>T (p.Arg274=) rs997235832 0.00005
NM_001101426.4(CRPPA):c.255G>A (p.Glu85=) rs886042759 0.00005
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del) rs397515398 0.00005
NM_001101426.4(CRPPA):c.42G>T (p.Pro14=) rs1332918116 0.00005
NM_001101426.4(CRPPA):c.626G>C (p.Arg209Thr) rs374054216 0.00005
NM_001101426.4(CRPPA):c.835+2T>C rs773325665 0.00005
NM_001848.3(COL6A1):c.1179C>T (p.Asp393=) rs182068143 0.00005
NM_001848.3(COL6A1):c.1694G>A (p.Arg565Gln) rs886057155 0.00005
NM_001848.3(COL6A1):c.2035C>T (p.Pro679Ser) rs756467809 0.00005
NM_001848.3(COL6A1):c.2343G>A (p.Gln781=) rs755487987 0.00005
NM_001848.3(COL6A1):c.2709C>T (p.Ala903=) rs139018148 0.00005
NM_001848.3(COL6A1):c.2799C>T (p.Gly933=) rs773470822 0.00005
NM_001848.3(COL6A1):c.429-20C>T rs779947824 0.00005
NM_001848.3(COL6A1):c.669C>T (p.Asp223=) rs552000247 0.00005
NM_001848.3(COL6A1):c.985G>A (p.Gly329Arg) rs200835287 0.00005
NM_001848.3(COL6A1):c.994G>A (p.Gly332Ser) rs11701912 0.00005
NM_001849.4(COL6A2):c.116-3C>T rs767597831 0.00005
NM_001849.4(COL6A2):c.1341T>C (p.Pro447=) rs751688085 0.00005
NM_001849.4(COL6A2):c.1360G>A (p.Gly454Ser) rs1035908319 0.00005
NM_001849.4(COL6A2):c.139G>A (p.Val47Met) rs370171967 0.00005
NM_001849.4(COL6A2):c.1493G>A (p.Arg498His) rs267606749 0.00005
NM_001849.4(COL6A2):c.1608+15T>A rs759865245 0.00005
NM_001849.4(COL6A2):c.1661A>G (p.Lys554Arg) rs754196388 0.00005
NM_001849.4(COL6A2):c.1705C>T (p.Arg569Trp) rs747089603 0.00005
NM_001849.4(COL6A2):c.1771-13G>A rs376708282 0.00005
NM_001849.4(COL6A2):c.1780G>A (p.Val594Ile) rs541785316 0.00005
NM_001849.4(COL6A2):c.1869C>T (p.Ser623=) rs760704425 0.00005
NM_001849.4(COL6A2):c.2171G>T (p.Arg724Leu) rs145450812 0.00005
NM_001849.4(COL6A2):c.2196C>T (p.Asp732=) rs188508745 0.00005
NM_001849.4(COL6A2):c.2205C>T (p.His735=) rs755147431 0.00005
NM_001849.4(COL6A2):c.2277C>T (p.Ile759=) rs201571249 0.00005
NM_001849.4(COL6A2):c.2322C>T (p.Ser774=) rs200386811 0.00005
NM_001849.4(COL6A2):c.2462-13C>T rs533454494 0.00005
NM_001849.4(COL6A2):c.2565C>T (p.Phe855=) rs774805224 0.00005
NM_001849.4(COL6A2):c.2633C>T (p.Ala878Val) rs774521989 0.00005
NM_001849.4(COL6A2):c.2679G>A (p.Pro893=) rs748286207 0.00005
NM_001849.4(COL6A2):c.2757A>G (p.Ala919=) rs758646770 0.00005
NM_001849.4(COL6A2):c.2770G>A (p.Ala924Thr) rs771749652 0.00005
NM_001849.4(COL6A2):c.2847C>T (p.Asp949=) rs369129061 0.00005
NM_001849.4(COL6A2):c.2904C>T (p.Asn968=) rs143569686 0.00005
NM_001849.4(COL6A2):c.3034G>A (p.Asp1012Asn) rs372431744 0.00005
NM_001849.4(COL6A2):c.532G>A (p.Glu178Lys) rs369025432 0.00005
NM_001849.4(COL6A2):c.536G>A (p.Arg179Gln) rs376139670 0.00005
NM_001849.4(COL6A2):c.637C>T (p.Arg213Cys) rs374196682 0.00005
NM_001849.4(COL6A2):c.638G>A (p.Arg213His) rs368064647 0.00005
NM_001849.4(COL6A2):c.648C>T (p.Tyr216=) rs150004111 0.00005
NM_001849.4(COL6A2):c.736-7G>A rs375288629 0.00005
NM_001849.4(COL6A2):c.999+15G>A rs372055794 0.00005
NM_002206.3(ITGA7):c.1568-9A>G rs761067098 0.00005
NM_002206.3(ITGA7):c.1680C>T (p.Thr560=) rs760968207 0.00005
NM_002206.3(ITGA7):c.1719C>T (p.Asp573=) rs530050340 0.00005
NM_002206.3(ITGA7):c.2357+1G>A rs200402328 0.00005
NM_002206.3(ITGA7):c.259C>T (p.Arg87Cys) rs140570573 0.00005
NM_002206.3(ITGA7):c.2958+5G>C rs191213131 0.00005
NM_002206.3(ITGA7):c.3199C>T (p.Arg1067Trp) rs367574217 0.00005
NM_002206.3(ITGA7):c.3263G>A (p.Arg1088Gln) rs754655315 0.00005
NM_002206.3(ITGA7):c.3372C>T (p.Pro1124=) rs141486781 0.00005
NM_002206.3(ITGA7):c.386G>A (p.Arg129Gln) rs376167554 0.00005
NM_002206.3(ITGA7):c.708C>T (p.Pro236=) rs555521550 0.00005
NM_002206.3(ITGA7):c.955G>A (p.Gly319Ser) rs200793865 0.00005
NM_003863.4(DPM2):c.197-5C>T rs886063482 0.00005
NM_003863.4(DPM2):c.74C>G (p.Thr25Ser) rs1026866240 0.00005
NM_004369.4(COL6A3):c.1312+7A>G rs949869773 0.00005
NM_004369.4(COL6A3):c.2666G>A (p.Arg889His) rs111295967 0.00005
NM_004369.4(COL6A3):c.2695A>G (p.Ile899Val) rs372114508 0.00005
NM_004369.4(COL6A3):c.2972C>T (p.Ala991Val) rs202185764 0.00005
NM_004369.4(COL6A3):c.2994G>A (p.Ser998=) rs768233315 0.00005
NM_004369.4(COL6A3):c.3555C>T (p.Ala1185=) rs373719229 0.00005
NM_004369.4(COL6A3):c.3671C>T (p.Pro1224Leu) rs754323567 0.00005
NM_004369.4(COL6A3):c.3901C>T (p.Arg1301Trp) rs150430813 0.00005
NM_004369.4(COL6A3):c.3932A>G (p.Asn1311Ser) rs200592625 0.00005
NM_004369.4(COL6A3):c.3934G>A (p.Val1312Met) rs144878757 0.00005
NM_004369.4(COL6A3):c.4504G>A (p.Ala1502Thr) rs201722265 0.00005
NM_004369.4(COL6A3):c.5068G>A (p.Glu1690Lys) rs144451523 0.00005
NM_004369.4(COL6A3):c.5128G>A (p.Val1710Ile) rs773631759 0.00005
NM_004369.4(COL6A3):c.5180G>A (p.Arg1727Gln) rs760717002 0.00005
NM_004369.4(COL6A3):c.5680C>T (p.Pro1894Ser) rs112540218 0.00005
NM_004369.4(COL6A3):c.5696A>G (p.Glu1899Gly) rs768711436 0.00005
NM_004369.4(COL6A3):c.5734G>A (p.Glu1912Lys) rs113251155 0.00005
NM_004369.4(COL6A3):c.6355-4G>T rs755204422 0.00005
NM_004369.4(COL6A3):c.6408+16C>T rs531635518 0.00005
NM_004369.4(COL6A3):c.6477C>T (p.Asn2159=) rs149697986 0.00005
NM_004369.4(COL6A3):c.6640G>A (p.Gly2214Ser) rs777454204 0.00005
NM_004369.4(COL6A3):c.6902T>C (p.Val2301Ala) rs111927395 0.00005
NM_004369.4(COL6A3):c.7659C>T (p.Asn2553=) rs369335838 0.00005
NM_004369.4(COL6A3):c.7668+16G>A rs746169209 0.00005
NM_004369.4(COL6A3):c.7749G>A (p.Thr2583=) rs758582935 0.00005
NM_004369.4(COL6A3):c.8373C>T (p.Asn2791=) rs770214487 0.00005
NM_004369.4(COL6A3):c.8632A>G (p.Thr2878Ala) rs761653490 0.00005
NM_004369.4(COL6A3):c.8996A>G (p.Glu2999Gly) rs537189097 0.00005
NM_004369.4(COL6A3):c.9217A>G (p.Ser3073Gly) rs199680718 0.00005
NM_004369.4(COL6A3):c.966C>T (p.Ile322=) rs369160080 0.00005
NM_004370.6(COL12A1):c.110A>G (p.Asp37Gly) rs374757163 0.00005
NM_004370.6(COL12A1):c.1821G>A (p.Arg607=) rs199994914 0.00005
NM_004370.6(COL12A1):c.1892-6A>T rs60109744 0.00005
NM_004370.6(COL12A1):c.1971A>C (p.Glu657Asp) rs758146130 0.00005
NM_004370.6(COL12A1):c.2496A>T (p.Leu832Phe) rs199992321 0.00005
NM_004370.6(COL12A1):c.2610G>A (p.Leu870=) rs377030726 0.00005
NM_004370.6(COL12A1):c.2880G>A (p.Thr960=) rs374531525 0.00005
NM_004370.6(COL12A1):c.2968G>T (p.Asp990Tyr) rs201996851 0.00005
NM_004370.6(COL12A1):c.3091C>T (p.Arg1031Cys) rs575168916 0.00005
NM_004370.6(COL12A1):c.3671G>A (p.Arg1224His) rs191996302 0.00005
NM_004370.6(COL12A1):c.384C>T (p.Thr128=) rs200378966 0.00005
NM_004370.6(COL12A1):c.3899C>T (p.Ala1300Val) rs199757996 0.00005
NM_004370.6(COL12A1):c.4288-5C>T rs544779989 0.00005
NM_004370.6(COL12A1):c.5959C>T (p.Arg1987Cys) rs200870100 0.00005
NM_004370.6(COL12A1):c.7257C>T (p.Ser2419=) rs554342070 0.00005
NM_004370.6(COL12A1):c.7331C>T (p.Ala2444Val) rs367980407 0.00005
NM_004370.6(COL12A1):c.793C>T (p.Arg265Cys) rs749760185 0.00005
NM_004370.6(COL12A1):c.8886G>T (p.Gly2962=) rs373455368 0.00005
NM_004370.6(COL12A1):c.9072C>A (p.Gly3024=) rs572512247 0.00005
NM_004370.6(COL12A1):c.9110C>T (p.Pro3037Leu) rs370090007 0.00005
NM_004393.6(DAG1):c.1051A>G (p.Thr351Ala) rs376991799 0.00005
NM_004393.6(DAG1):c.1240A>T (p.Thr414Ser) rs768983113 0.00005
NM_004393.6(DAG1):c.185C>T (p.Pro62Leu) rs375938350 0.00005
NM_004393.6(DAG1):c.1954C>T (p.Arg652Trp) rs151272832 0.00005
NM_004393.6(DAG1):c.2192C>T (p.Ala731Val) rs375071274 0.00005
NM_004393.6(DAG1):c.2406C>T (p.Asp802=) rs146134719 0.00005
NM_004393.6(DAG1):c.49A>G (p.Thr17Ala) rs760423386 0.00005
NM_005198.4(CHKB):c.-94G>A rs886057639 0.00005
NM_006876.3(B4GAT1):c.1057-6C>T rs373478461 0.00005
NM_006876.3(B4GAT1):c.510C>G (p.Pro170=) rs761777602 0.00005
NM_013382.7(POMT2):c.*2200G>A rs1037547422 0.00005
NM_013382.7(POMT2):c.*289G>A rs886050823 0.00005
NM_013382.7(POMT2):c.*601G>A rs150190025 0.00005
NM_013382.7(POMT2):c.1124C>T (p.Thr375Ile) rs542912704 0.00005
NM_013382.7(POMT2):c.1127A>G (p.Tyr376Cys) rs1180170796 0.00005
NM_013382.7(POMT2):c.1733G>A (p.Arg578His) rs571330846 0.00005
NM_013382.7(POMT2):c.2057G>A (p.Arg686Gln) rs200163818 0.00005
NM_013382.7(POMT2):c.2148-15G>C rs777010788 0.00005
NM_013382.7(POMT2):c.339G>A (p.Leu113=) rs907279495 0.00005
NM_013382.7(POMT2):c.621G>A (p.Met207Ile) rs551885065 0.00005
NM_013382.7(POMT2):c.871C>G (p.Leu291Val) rs764015186 0.00005
NM_016532.4(INPP5K):c.119A>G (p.Asn40Ser) rs547379014 0.00005
NM_017739.4(POMGNT1):c.1099C>T (p.Arg367Cys) rs36038536 0.00005
NM_017739.4(POMGNT1):c.129C>T (p.Ala43=) rs138950267 0.00005
NM_017739.4(POMGNT1):c.1540-6C>T rs770449394 0.00005
NM_017739.4(POMGNT1):c.1758C>T (p.Asp586=) rs376138855 0.00005
NM_017739.4(POMGNT1):c.550C>T (p.His184Tyr) rs746638187 0.00005
NM_017739.4(POMGNT1):c.752-7C>T rs767387934 0.00005
NM_020451.3(SELENON):c.1152C>T (p.Ser384=) rs546136806 0.00005
NM_020451.3(SELENON):c.1344C>T (p.His448=) rs752098351 0.00005
NM_020451.3(SELENON):c.1500+8G>A rs930103539 0.00005
NM_020451.3(SELENON):c.183+10C>G rs1405420770 0.00005
NM_020451.3(SELENON):c.1A>G (p.Met1Val) rs121908184 0.00005
NM_020451.3(SELENON):c.393C>T (p.Leu131=) rs947474610 0.00005
NM_020451.3(SELENON):c.989G>A (p.Arg330Gln) rs758037272 0.00005
NM_021971.4(GMPPB):c.160A>C (p.Ser54Arg) rs145671483 0.00005
NM_021971.4(GMPPB):c.952-14A>G rs747845961 0.00005
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile) rs199922550 0.00005
NM_024301.5(FKRP):c.1011C>A (p.Gly337=) rs770149835 0.00005
NM_024301.5(FKRP):c.1253G>A (p.Trp418Ter) rs746533953 0.00005
NM_024301.5(FKRP):c.1270A>C (p.Asn424His) rs769568971 0.00005
NM_024301.5(FKRP):c.1427G>A (p.Gly476Glu) rs375326964 0.00005
NM_024301.5(FKRP):c.210C>T (p.Phe70=) rs569336346 0.00005
NM_024301.5(FKRP):c.295G>A (p.Val99Met) rs776733780 0.00005
NM_032237.5(POMK):c.256C>T (p.Arg86Cys) rs370978230 0.00005
NM_032237.5(POMK):c.968C>T (p.Thr323Ile) rs1029874324 0.00005
NM_032806.6(POMGNT2):c.1009A>G (p.Asn337Asp) rs748310184 0.00005
NM_032806.6(POMGNT2):c.1083G>A (p.Val361=) rs765996959 0.00005
NM_032806.6(POMGNT2):c.1271G>A (p.Arg424His) rs775667995 0.00005
NM_032806.6(POMGNT2):c.12G>A (p.Ser4=) rs368531523 0.00005
NM_032806.6(POMGNT2):c.1334G>A (p.Arg445Gln) rs756644394 0.00005
NM_032806.6(POMGNT2):c.1415G>A (p.Arg472Gln) rs147074827 0.00005
NM_032806.6(POMGNT2):c.15G>A (p.Ala5=) rs570040029 0.00005
NM_032806.6(POMGNT2):c.214C>T (p.Arg72Cys) rs759054257 0.00005
NM_032806.6(POMGNT2):c.363C>T (p.Thr121=) rs200345083 0.00005
NM_032806.6(POMGNT2):c.445G>A (p.Val149Met) rs147163009 0.00005
NM_032806.6(POMGNT2):c.459C>T (p.Ala153=) rs373276653 0.00005
NM_032806.6(POMGNT2):c.51G>A (p.Ala17=) rs749826105 0.00005
NM_032806.6(POMGNT2):c.550G>A (p.Gly184Ser) rs368791726 0.00005
NM_133642.5(LARGE1):c.1389C>T (p.Tyr463=) rs115686643 0.00005
NM_133642.5(LARGE1):c.2213T>C (p.Met738Thr) rs776954687 0.00005
NM_152490.5(B3GALNT2):c.1095T>C (p.Ala365=) rs751231735 0.00005
NM_152490.5(B3GALNT2):c.30G>A (p.Pro10=) rs986453979 0.00005
NM_152490.5(B3GALNT2):c.390T>C (p.Ser130=) rs139582216 0.00005
NM_152490.5(B3GALNT2):c.664A>G (p.Thr222Ala) rs375121424 0.00005
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745 0.00005
NM_170707.4(LMNA):c.497G>A (p.Arg166Gln) rs267607570 0.00005
NM_173660.5(DOK7):c.1219A>G (p.Thr407Ala) rs377326004 0.00005
NM_173660.5(DOK7):c.201C>T (p.Pro67=) rs770153614 0.00005
NM_173660.5(DOK7):c.314G>A (p.Arg105His) rs776352781 0.00005
NM_173660.5(DOK7):c.331+16C>T rs577280323 0.00005
NM_173660.5(DOK7):c.378C>T (p.Ser126=) rs753043554 0.00005
NM_173660.5(DOK7):c.54+8C>T rs577687998 0.00005
NM_173660.5(DOK7):c.653-18G>C rs762076600 0.00005
NM_173660.5(DOK7):c.822C>T (p.Asp274=) rs141732576 0.00005
NM_173660.5(DOK7):c.829G>A (p.Ala277Thr) rs759117081 0.00005
NM_173660.5(DOK7):c.968G>A (p.Arg323His) rs763188032 0.00005
NM_000426.4(LAMA2):c.149C>T (p.Ala50Val) rs191899712 0.00004
NM_000426.4(LAMA2):c.2512G>A (p.Gly838Arg) rs150361703 0.00004
NM_000426.4(LAMA2):c.4118C>T (p.Pro1373Leu) rs754163400 0.00004
NM_000426.4(LAMA2):c.5050G>A (p.Glu1684Lys) rs201632009 0.00004
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter) rs121913572 0.00004
NM_000426.4(LAMA2):c.830C>T (p.Ser277Leu) rs398123388 0.00004
NM_000426.4(LAMA2):c.8497G>T (p.Asp2833Tyr) rs794727815 0.00004
NM_001077365.2(POMT1):c.*68C>T rs773474667 0.00004
NM_001077365.2(POMT1):c.1175+13G>A rs777087288 0.00004
NM_001077365.2(POMT1):c.123-13T>G rs773958478 0.00004
NM_001077365.2(POMT1):c.123-6T>C rs201486083 0.00004
NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile) rs377304621 0.00004
NM_001077365.2(POMT1):c.1417G>A (p.Gly473Arg) rs376882399 0.00004
NM_001077365.2(POMT1):c.1485G>A (p.Ala495=) rs142211950 0.00004
NM_001077365.2(POMT1):c.1511G>A (p.Arg504Gln) rs370705614 0.00004
NM_001077365.2(POMT1):c.1795C>T (p.Arg599Trp) rs150899645 0.00004
NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter) rs794727208 0.00004
NM_001077365.2(POMT1):c.1990G>A (p.Asp664Asn) rs145635821 0.00004
NM_001077365.2(POMT1):c.2003+9G>A rs368975092 0.00004
NM_001077365.2(POMT1):c.2132C>T (p.Ala711Val) rs769694503 0.00004
NM_001077365.2(POMT1):c.2167C>T (p.Arg723Ter) rs202202445 0.00004
NM_001077365.2(POMT1):c.310C>T (p.Leu104=) rs146982282 0.00004
NM_001077365.2(POMT1):c.424A>T (p.Ile142Phe) rs141833028 0.00004
NM_001077365.2(POMT1):c.579A>G (p.Thr193=) rs775408856 0.00004
NM_001077365.2(POMT1):c.620G>A (p.Gly207Asp) rs765733801 0.00004
NM_001077365.2(POMT1):c.699+85C>G rs369000699 0.00004
NM_001077365.2(POMT1):c.699+86C>T rs775951652 0.00004
NM_001079802.2(FKTN):c.*1175C>T rs996474083 0.00004
NM_001079802.2(FKTN):c.1173-8T>C rs767093535 0.00004
NM_001079802.2(FKTN):c.1228C>A (p.His410Asn) rs146272618 0.00004
NM_001079802.2(FKTN):c.1248C>T (p.Leu416=) rs774804160 0.00004
NM_001079802.2(FKTN):c.1383T>C (p.Tyr461=) rs140899569 0.00004
NM_001079802.2(FKTN):c.207T>C (p.Asn69=) rs752921570 0.00004
NM_001079802.2(FKTN):c.397A>G (p.Met133Val) rs569778463 0.00004
NM_001079802.2(FKTN):c.444C>T (p.Asp148=) rs759808323 0.00004
NM_001079802.2(FKTN):c.647+19C>T rs371472520 0.00004
NM_001079802.2(FKTN):c.854C>T (p.Ala285Val) rs137951613 0.00004
NM_001079802.2(FKTN):c.877G>C (p.Val293Leu) rs146900302 0.00004
NM_001101426.4(CRPPA):c.304A>G (p.Met102Val) rs763300192 0.00004
NM_001101426.4(CRPPA):c.307G>A (p.Glu103Lys) rs775902619 0.00004
NM_001101426.4(CRPPA):c.347G>A (p.Arg116His) rs748777770 0.00004
NM_001101426.4(CRPPA):c.789+9G>A rs375132134 0.00004
NM_001101426.4(CRPPA):c.881A>G (p.Asp294Gly) rs547473863 0.00004
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010 0.00004
NM_001848.3(COL6A1):c.1119+13C>T rs199655304 0.00004
NM_001848.3(COL6A1):c.1146G>A (p.Ala382=) rs148492687 0.00004
NM_001848.3(COL6A1):c.1236+5G>A rs376327142 0.00004
NM_001848.3(COL6A1):c.1271G>A (p.Arg424Gln) rs761729281 0.00004
NM_001848.3(COL6A1):c.1313C>T (p.Thr438Met) rs376807461 0.00004
NM_001848.3(COL6A1):c.1336-12G>A rs746917431 0.00004
NM_001848.3(COL6A1):c.1336-18C>T rs201516559 0.00004
NM_001848.3(COL6A1):c.1397C>T (p.Pro466Leu) rs746962124 0.00004
NM_001848.3(COL6A1):c.1458C>T (p.Ser486=) rs377137616 0.00004
NM_001848.3(COL6A1):c.1461+4A>G rs201372759 0.00004
NM_001848.3(COL6A1):c.1540G>A (p.Ala514Thr) rs760815168 0.00004
NM_001848.3(COL6A1):c.1554C>T (p.Thr518=) rs9637170 0.00004
NM_001848.3(COL6A1):c.1555G>A (p.Glu519Lys) rs754384963 0.00004
NM_001848.3(COL6A1):c.1575C>T (p.Pro525=) rs781031251 0.00004
NM_001848.3(COL6A1):c.1611+8C>T rs376055208 0.00004
NM_001848.3(COL6A1):c.1656C>T (p.Ala552=) rs377213930 0.00004
NM_001848.3(COL6A1):c.1672G>A (p.Asp558Asn) rs1372696070 0.00004
NM_001848.3(COL6A1):c.1675-15G>A rs763344899 0.00004
NM_001848.3(COL6A1):c.1721G>A (p.Arg574Gln) rs201227573 0.00004
NM_001848.3(COL6A1):c.1729G>A (p.Glu577Lys) rs552634753 0.00004
NM_001848.3(COL6A1):c.1741-13G>A rs201063714 0.00004
NM_001848.3(COL6A1):c.1763C>T (p.Pro588Leu) rs759442615 0.00004
NM_001848.3(COL6A1):c.1814-8C>T rs777017599 0.00004
NM_001848.3(COL6A1):c.1825T>C (p.Cys609Arg) rs763495943 0.00004
NM_001848.3(COL6A1):c.1945G>A (p.Glu649Lys) rs764129993 0.00004
NM_001848.3(COL6A1):c.1957-17C>T rs370007363 0.00004
NM_001848.3(COL6A1):c.2080C>T (p.Leu694=) rs1336464401 0.00004
NM_001848.3(COL6A1):c.2109G>A (p.Thr703=) rs760649238 0.00004
NM_001848.3(COL6A1):c.2148G>A (p.Pro716=) rs780032842 0.00004
NM_001848.3(COL6A1):c.2156C>T (p.Pro719Leu) rs753759904 0.00004
NM_001848.3(COL6A1):c.228-17G>A rs528620355 0.00004
NM_001848.3(COL6A1):c.2481G>A (p.Pro827=) rs772673965 0.00004
NM_001848.3(COL6A1):c.2560C>T (p.Arg854Cys) rs771987341 0.00004
NM_001848.3(COL6A1):c.2561G>A (p.Arg854His) rs200732314 0.00004
NM_001848.3(COL6A1):c.2610C>T (p.Asp870=) rs759989949 0.00004
NM_001848.3(COL6A1):c.2785G>A (p.Glu929Lys) rs145846228 0.00004
NM_001848.3(COL6A1):c.2800G>A (p.Ala934Thr) rs147716407 0.00004
NM_001848.3(COL6A1):c.2853G>A (p.Thr951=) rs890068806 0.00004
NM_001848.3(COL6A1):c.2982C>T (p.Tyr994=) rs369948305 0.00004
NM_001848.3(COL6A1):c.3013C>T (p.Arg1005Cys) rs780139552 0.00004
NM_001848.3(COL6A1):c.3040C>T (p.Arg1014Cys) rs376764211 0.00004
NM_001848.3(COL6A1):c.329G>A (p.Arg110His) rs773139115 0.00004
NM_001848.3(COL6A1):c.510G>A (p.Gly170=) rs373970248 0.00004
NM_001848.3(COL6A1):c.519G>A (p.Glu173=) rs146071423 0.00004
NM_001848.3(COL6A1):c.588+9C>T rs776935888 0.00004
NM_001848.3(COL6A1):c.667G>A (p.Asp223Asn) rs199842980 0.00004
NM_001848.3(COL6A1):c.763G>A (p.Ala255Thr) rs145473829 0.00004
NM_001848.3(COL6A1):c.785G>A (p.Arg262Gln) rs757791812 0.00004
NM_001848.3(COL6A1):c.903+4C>T rs200380846 0.00004
NM_001848.3(COL6A1):c.931-18C>T rs755738565 0.00004
NM_001848.3(COL6A1):c.96G>A (p.Gln32=) rs754988212 0.00004
NM_001849.4(COL6A2):c.1013G>A (p.Arg338His) rs760872485 0.00004
NM_001849.4(COL6A2):c.1017C>T (p.Ile339=) rs766157503 0.00004
NM_001849.4(COL6A2):c.1138C>T (p.Arg380Cys) rs142880107 0.00004
NM_001849.4(COL6A2):c.1252G>A (p.Gly418Arg) rs768681228 0.00004
NM_001849.4(COL6A2):c.1288G>A (p.Gly430Ser) rs765430501 0.00004
NM_001849.4(COL6A2):c.1312G>A (p.Asp438Asn) rs202039679 0.00004
NM_001849.4(COL6A2):c.1465C>T (p.Arg489Trp) rs727502829 0.00004
NM_001849.4(COL6A2):c.1492C>T (p.Arg498Cys) rs776748046 0.00004
NM_001849.4(COL6A2):c.1616G>A (p.Arg539Gln) rs768933697 0.00004
NM_001849.4(COL6A2):c.1710G>A (p.Gly570=) rs377210303 0.00004
NM_001849.4(COL6A2):c.1771-14C>T rs200727166 0.00004
NM_001849.4(COL6A2):c.1817-8C>A rs750444649 0.00004
NM_001849.4(COL6A2):c.1899G>A (p.Leu633=) rs189341312 0.00004
NM_001849.4(COL6A2):c.1970-15G>A rs372285273 0.00004
NM_001849.4(COL6A2):c.1970-20C>T rs568102534 0.00004
NM_001849.4(COL6A2):c.1970-8G>C rs771873003 0.00004
NM_001849.4(COL6A2):c.2034C>T (p.Asp678=) rs776187095 0.00004
NM_001849.4(COL6A2):c.2058C>T (p.Ser686=) rs370558215 0.00004
NM_001849.4(COL6A2):c.2153G>A (p.Ser718Asn) rs368641951 0.00004
NM_001849.4(COL6A2):c.2159G>A (p.Arg720His) rs145140058 0.00004
NM_001849.4(COL6A2):c.219C>T (p.Phe73=) rs374336669 0.00004
NM_001849.4(COL6A2):c.2233C>T (p.Arg745Trp) rs140643748 0.00004
NM_001849.4(COL6A2):c.2278G>A (p.Gly760Arg) rs199913294 0.00004
NM_001849.4(COL6A2):c.2395G>A (p.Asp799Asn) rs372936386 0.00004
NM_001849.4(COL6A2):c.2407G>A (p.Asp803Asn) rs761913437 0.00004
NM_001849.4(COL6A2):c.2489G>A (p.Arg830Gln) rs139552940 0.00004
NM_001849.4(COL6A2):c.2490G>A (p.Arg830=) rs748047522 0.00004
NM_001849.4(COL6A2):c.2494G>A (p.Val832Met) rs376841327 0.00004
NM_001849.4(COL6A2):c.249C>T (p.Asn83=) rs151032529 0.00004
NM_001849.4(COL6A2):c.2524G>A (p.Glu842Lys) rs571051982 0.00004
NM_001849.4(COL6A2):c.2536G>A (p.Glu846Lys) rs772005975 0.00004
NM_001849.4(COL6A2):c.2557C>T (p.Arg853Trp) rs759689002 0.00004
NM_001849.4(COL6A2):c.2591C>T (p.Thr864Met) rs200488881 0.00004
NM_001849.4(COL6A2):c.2598C>G (p.Ala866=) rs376791811 0.00004
NM_001849.4(COL6A2):c.2627G>A (p.Arg876His) rs1012567148 0.00004
NM_001849.4(COL6A2):c.2655C>T (p.Pro885=) rs374163190 0.00004
NM_001849.4(COL6A2):c.2728T>C (p.Tyr910His) rs554257211 0.00004
NM_001849.4(COL6A2):c.2844G>A (p.Thr948=) rs757818559 0.00004
NM_001849.4(COL6A2):c.2863G>A (p.Asp955Asn) rs773407652 0.00004
NM_001849.4(COL6A2):c.2934C>T (p.Ser978=) rs139814466 0.00004
NM_001849.4(COL6A2):c.2949C>T (p.Asp983=) rs764590595 0.00004
NM_001849.4(COL6A2):c.2968C>T (p.Leu990=) rs746012569 0.00004
NM_001849.4(COL6A2):c.3004T>C (p.Tyr1002His) rs527236952 0.00004
NM_001849.4(COL6A2):c.3046C>T (p.Arg1016Cys) rs373392391 0.00004
NM_001849.4(COL6A2):c.411G>A (p.Ala137=) rs528885146 0.00004
NM_001849.4(COL6A2):c.472G>A (p.Val158Met) rs201792591 0.00004
NM_001849.4(COL6A2):c.503G>T (p.Ser168Ile) rs376564984 0.00004
NM_001849.4(COL6A2):c.535C>T (p.Arg179Trp) rs201470058 0.00004
NM_001849.4(COL6A2):c.545A>G (p.Glu182Gly) rs760509198 0.00004
NM_001849.4(COL6A2):c.556C>T (p.Arg186Trp) rs754048358 0.00004
NM_001849.4(COL6A2):c.572C>T (p.Ala191Val) rs747347320 0.00004
NM_001849.4(COL6A2):c.642C>T (p.Asn214=) rs781584161 0.00004
NM_001849.4(COL6A2):c.649G>A (p.Ala217Thr) rs530625182 0.00004
NM_001849.4(COL6A2):c.714+10G>A rs777394169 0.00004
NM_001849.4(COL6A2):c.735+7G>A rs575365107 0.00004
NM_001849.4(COL6A2):c.80C>T (p.Ser27Leu) rs150057026 0.00004
NM_001849.4(COL6A2):c.83C>T (p.Pro28Leu) rs778546141 0.00004
NM_001849.4(COL6A2):c.950G>A (p.Arg317His) rs373782637 0.00004
NM_001849.4(COL6A2):c.961C>T (p.Pro321Ser) rs745678446 0.00004
NM_002206.3(ITGA7):c.1281+12C>T rs757398323 0.00004
NM_002206.3(ITGA7):c.1395C>T (p.Thr465=) rs199722672 0.00004
NM_002206.3(ITGA7):c.1481A>G (p.Asn494Ser) rs374707420 0.00004
NM_002206.3(ITGA7):c.1568-18T>C rs371316432 0.00004
NM_002206.3(ITGA7):c.1577A>G (p.Tyr526Cys) rs201280060 0.00004
NM_002206.3(ITGA7):c.1671C>T (p.Ala557=) rs570999139 0.00004
NM_002206.3(ITGA7):c.1829G>T (p.Gly610Val) rs550384423 0.00004
NM_002206.3(ITGA7):c.1831C>T (p.Leu611=) rs776107991 0.00004
NM_002206.3(ITGA7):c.1918G>A (p.Asp640Asn) rs751879922 0.00004
NM_002206.3(ITGA7):c.2133C>T (p.Ala711=) rs776810723 0.00004
NM_002206.3(ITGA7):c.2196+7A>G rs751488036 0.00004
NM_002206.3(ITGA7):c.227A>G (p.Gln76Arg) rs767427150 0.00004
NM_002206.3(ITGA7):c.2282C>T (p.Thr761Ile) rs550342721 0.00004
NM_002206.3(ITGA7):c.2357+17C>T rs781251315 0.00004
NM_002206.3(ITGA7):c.2467G>A (p.Val823Met) rs146163713 0.00004
NM_002206.3(ITGA7):c.2545C>G (p.Gln849Glu) rs143055936 0.00004
NM_002206.3(ITGA7):c.2550C>T (p.Gly850=) rs751592658 0.00004
NM_002206.3(ITGA7):c.255G>A (p.Ala85=) rs768742655 0.00004
NM_002206.3(ITGA7):c.260G>A (p.Arg87His) rs775800333 0.00004
NM_002206.3(ITGA7):c.2707C>T (p.His903Tyr) rs372692039 0.00004
NM_002206.3(ITGA7):c.2713-9C>T rs201569851 0.00004
NM_002206.3(ITGA7):c.2794A>G (p.Met932Val) rs779191862 0.00004
NM_002206.3(ITGA7):c.2844+20G>A rs754459718 0.00004
NM_002206.3(ITGA7):c.287T>G (p.Leu96Trp) rs886042999 0.00004
NM_002206.3(ITGA7):c.2932C>T (p.Arg978Cys) rs147664595 0.00004
NM_002206.3(ITGA7):c.2963A>G (p.Tyr988Cys) rs1191095890 0.00004
NM_002206.3(ITGA7):c.2990T>C (p.Ile997Thr) rs112392939 0.00004
NM_002206.3(ITGA7):c.3253C>T (p.Arg1085Trp) rs200346980 0.00004
NM_002206.3(ITGA7):c.671-9C>T rs759306932 0.00004
NM_002206.3(ITGA7):c.954C>T (p.Ser318=) rs146864775 0.00004
NM_003863.4(DPM2):c.39C>G (p.Leu13=) rs757467123 0.00004
NM_003863.4(DPM2):c.94-19G>A rs760505582 0.00004
NM_003863.4(DPM2):c.94-9C>T rs373340697 0.00004
NM_004369.4(COL6A3):c.1218T>C (p.Arg406=) rs766367190 0.00004
NM_004369.4(COL6A3):c.1263C>T (p.Gly421=) rs775821966 0.00004
NM_004369.4(COL6A3):c.1385A>G (p.Asn462Ser) rs200250810 0.00004
NM_004369.4(COL6A3):c.1598G>A (p.Arg533His) rs764614021 0.00004
NM_004369.4(COL6A3):c.1830C>T (p.Ala610=) rs756709812 0.00004
NM_004369.4(COL6A3):c.1831G>A (p.Ala611Thr) rs372255458 0.00004
NM_004369.4(COL6A3):c.2029C>T (p.Arg677Cys) rs137923508 0.00004
NM_004369.4(COL6A3):c.2066C>T (p.Thr689Met) rs762162177 0.00004
NM_004369.4(COL6A3):c.2147G>A (p.Gly716Asp) rs144514259 0.00004
NM_004369.4(COL6A3):c.2162C>G (p.Ser721Ter) rs377632042 0.00004
NM_004369.4(COL6A3):c.2206G>A (p.Gly736Ser) rs150008830 0.00004
NM_004369.4(COL6A3):c.2303G>A (p.Arg768His) rs575412915 0.00004
NM_004369.4(COL6A3):c.2426C>T (p.Pro809Leu) rs138281601 0.00004
NM_004369.4(COL6A3):c.2529C>T (p.Asp843=) rs556079869 0.00004
NM_004369.4(COL6A3):c.254G>A (p.Gly85Glu) rs369814614 0.00004
NM_004369.4(COL6A3):c.2634T>C (p.Ala878=) rs760857131 0.00004
NM_004369.4(COL6A3):c.2745C>T (p.Asn915=) rs749992393 0.00004
NM_004369.4(COL6A3):c.2748G>C (p.Leu916=) rs1347948544 0.00004
NM_004369.4(COL6A3):c.285G>A (p.Thr95=) rs373435541 0.00004
NM_004369.4(COL6A3):c.2931C>T (p.Asn977=) rs774059985 0.00004
NM_004369.4(COL6A3):c.29T>C (p.Val10Ala) rs766458324 0.00004
NM_004369.4(COL6A3):c.3008G>A (p.Gly1003Glu) rs775536678 0.00004
NM_004369.4(COL6A3):c.3070+6G>A rs761124398 0.00004
NM_004369.4(COL6A3):c.3196C>T (p.Arg1066Cys) rs774406266 0.00004
NM_004369.4(COL6A3):c.3273C>T (p.Val1091=) rs200562443 0.00004
NM_004369.4(COL6A3):c.3279C>T (p.Asn1093=) rs777242754 0.00004
NM_004369.4(COL6A3):c.3287G>A (p.Arg1096His) rs200860322 0.00004
NM_004369.4(COL6A3):c.3411C>T (p.Ile1137=) rs368285658 0.00004
NM_004369.4(COL6A3):c.3463G>A (p.Val1155Met) rs774764179 0.00004
NM_004369.4(COL6A3):c.3545C>T (p.Pro1182Leu) rs768064422 0.00004
NM_004369.4(COL6A3):c.354T>G (p.Thr118=) rs751592191 0.00004
NM_004369.4(COL6A3):c.3576C>T (p.Arg1192=) rs201942049 0.00004
NM_004369.4(COL6A3):c.3679+5G>T rs138878144 0.00004
NM_004369.4(COL6A3):c.3733G>A (p.Gly1245Arg) rs150548221 0.00004
NM_004369.4(COL6A3):c.3741G>C (p.Glu1247Asp) rs577927810 0.00004
NM_004369.4(COL6A3):c.3750C>T (p.Tyr1250=) rs763648429 0.00004
NM_004369.4(COL6A3):c.3936G>C (p.Val1312=) rs776983763 0.00004
NM_004369.4(COL6A3):c.4121A>T (p.Asp1374Val) rs766488017 0.00004
NM_004369.4(COL6A3):c.4155C>T (p.Pro1385=) rs761804539 0.00004
NM_004369.4(COL6A3):c.4226C>T (p.Thr1409Met) rs368928992 0.00004
NM_004369.4(COL6A3):c.4285+13C>T rs368338594 0.00004
NM_004369.4(COL6A3):c.4361A>G (p.His1454Arg) rs141754714 0.00004
NM_004369.4(COL6A3):c.4411A>C (p.Ser1471Arg) rs150321587 0.00004
NM_004369.4(COL6A3):c.4431C>T (p.Val1477=) rs151289203 0.00004
NM_004369.4(COL6A3):c.4432G>A (p.Val1478Met) rs374493032 0.00004
NM_004369.4(COL6A3):c.4596G>A (p.Ala1532=) rs747802067 0.00004
NM_004369.4(COL6A3):c.4603C>T (p.Arg1535Cys) rs752225290 0.00004
NM_004369.4(COL6A3):c.4614C>T (p.Asp1538=) rs199759398 0.00004
NM_004369.4(COL6A3):c.4691G>A (p.Arg1564His) rs368151192 0.00004
NM_004369.4(COL6A3):c.4742C>G (p.Thr1581Arg) rs1156524068 0.00004
NM_004369.4(COL6A3):c.4836G>A (p.Ser1612=) rs766930229 0.00004
NM_004369.4(COL6A3):c.4848C>T (p.Ser1616=) rs200948078 0.00004
NM_004369.4(COL6A3):c.5230C>T (p.Pro1744Ser) rs192930227 0.00004
NM_004369.4(COL6A3):c.5265G>A (p.Ser1755=) rs140699766 0.00004
NM_004369.4(COL6A3):c.5277A>G (p.Ala1759=) rs567112070 0.00004
NM_004369.4(COL6A3):c.5344G>A (p.Asp1782Asn) rs762035107 0.00004
NM_004369.4(COL6A3):c.5379C>T (p.Ser1793=) rs760201640 0.00004
NM_004369.4(COL6A3):c.5387C>T (p.Ala1796Val) rs772890888 0.00004
NM_004369.4(COL6A3):c.5388G>A (p.Ala1796=) rs116565519 0.00004
NM_004369.4(COL6A3):c.5393G>A (p.Arg1798His) rs371441617 0.00004
NM_004369.4(COL6A3):c.5403C>T (p.Asn1801=) rs114357878 0.00004
NM_004369.4(COL6A3):c.5419G>A (p.Glu1807Lys) rs781624176 0.00004
NM_004369.4(COL6A3):c.5500+15G>A rs372876170 0.00004
NM_004369.4(COL6A3):c.5607C>T (p.Ile1869=) rs751159969 0.00004
NM_004369.4(COL6A3):c.5681C>T (p.Pro1894Leu) rs376002858 0.00004
NM_004369.4(COL6A3):c.5690C>T (p.Pro1897Leu) rs370806359 0.00004
NM_004369.4(COL6A3):c.581A>G (p.Asn194Ser) rs771489087 0.00004
NM_004369.4(COL6A3):c.5869G>A (p.Gly1957Arg) rs554219567 0.00004
NM_004369.4(COL6A3):c.5953G>A (p.Val1985Met) rs200478135 0.00004
NM_004369.4(COL6A3):c.6075C>T (p.Ala2025=) rs375668409 0.00004
NM_004369.4(COL6A3):c.6182G>A (p.Arg2061Gln) rs376715966 0.00004
NM_004369.4(COL6A3):c.6218G>A (p.Arg2073His) rs185047948 0.00004
NM_004369.4(COL6A3):c.625A>G (p.Ile209Val) rs751370730 0.00004
NM_004369.4(COL6A3):c.6312C>T (p.Gly2104=) rs377074792 0.00004
NM_004369.4(COL6A3):c.6354+18A>C rs774579188 0.00004
NM_004369.4(COL6A3):c.6452T>C (p.Val2151Ala) rs540633944 0.00004
NM_004369.4(COL6A3):c.6461G>A (p.Arg2154Gln) rs145561490 0.00004
NM_004369.4(COL6A3):c.6471+20C>T rs370407313 0.00004
NM_004369.4(COL6A3):c.6852C>T (p.Ile2284=) rs374952003 0.00004
NM_004369.4(COL6A3):c.6879+15C>T rs368631950 0.00004
NM_004369.4(COL6A3):c.6912A>G (p.Glu2304=) rs746697715 0.00004
NM_004369.4(COL6A3):c.6931-6T>C rs376338674 0.00004
NM_004369.4(COL6A3):c.6967-15C>T rs112451272 0.00004
NM_004369.4(COL6A3):c.7441A>G (p.Thr2481Ala) rs201467603 0.00004
NM_004369.4(COL6A3):c.7551C>T (p.Asn2517=) rs570963533 0.00004
NM_004369.4(COL6A3):c.7607C>T (p.Ala2536Val) rs769072338 0.00004
NM_004369.4(COL6A3):c.7646G>A (p.Arg2549Gln) rs115863049 0.00004
NM_004369.4(COL6A3):c.7746C>T (p.Leu2582=) rs751294512 0.00004
NM_004369.4(COL6A3):c.7748C>T (p.Thr2583Met) rs140021275 0.00004
NM_004369.4(COL6A3):c.7879G>A (p.Ala2627Thr) rs776220123 0.00004
NM_004369.4(COL6A3):c.7963C>G (p.Pro2655Ala) rs767471920 0.00004
NM_004369.4(COL6A3):c.8137A>G (p.Arg2713Gly) rs772602377 0.00004
NM_004369.4(COL6A3):c.8231C>T (p.Thr2744Met) rs373680762 0.00004
NM_004369.4(COL6A3):c.8244G>A (p.Pro2748=) rs113754336 0.00004
NM_004369.4(COL6A3):c.8270G>C (p.Arg2757Thr) rs746608405 0.00004
NM_004369.4(COL6A3):c.8317G>A (p.Gly2773Ser) rs756294311 0.00004
NM_004369.4(COL6A3):c.8389T>C (p.Leu2797=) rs754977455 0.00004
NM_004369.4(COL6A3):c.8415C>T (p.Asn2805=) rs375442243 0.00004
NM_004369.4(COL6A3):c.8567+2dup rs776144262 0.00004
NM_004369.4(COL6A3):c.8639C>T (p.Thr2880Met) rs770436761 0.00004
NM_004369.4(COL6A3):c.8966-1G>C rs767517186 0.00004
NM_004369.4(COL6A3):c.9130G>A (p.Val3044Ile) rs374628435 0.00004
NM_004369.4(COL6A3):c.9198C>T (p.Val3066=) rs765101399 0.00004
NM_004369.4(COL6A3):c.9345G>A (p.Pro3115=) rs748814297 0.00004
NM_004369.4(COL6A3):c.9445G>A (p.Glu3149Lys) rs138694883 0.00004
NM_004369.4(COL6A3):c.9499G>A (p.Ala3167Thr) rs537511128 0.00004
NM_004370.6(COL12A1):c.1117G>T (p.Ala373Ser) rs370379561 0.00004
NM_004370.6(COL12A1):c.1175G>A (p.Arg392His) rs755195861 0.00004
NM_004370.6(COL12A1):c.1258G>C (p.Glu420Gln) rs757252832 0.00004
NM_004370.6(COL12A1):c.1666G>T (p.Ala556Ser) rs776633189 0.00004
NM_004370.6(COL12A1):c.1683G>A (p.Ala561=) rs371148798 0.00004
NM_004370.6(COL12A1):c.1742G>A (p.Arg581His) rs756803766 0.00004
NM_004370.6(COL12A1):c.1877C>T (p.Ala626Val) rs369924790 0.00004
NM_004370.6(COL12A1):c.2009C>G (p.Ala670Gly) rs774882851 0.00004
NM_004370.6(COL12A1):c.2064C>T (p.Leu688=) rs746946822 0.00004
NM_004370.6(COL12A1):c.2157C>T (p.Thr719=) rs776302292 0.00004
NM_004370.6(COL12A1):c.2164+6A>T rs746467248 0.00004
NM_004370.6(COL12A1):c.2314C>T (p.Pro772Ser) rs370256196 0.00004
NM_004370.6(COL12A1):c.2499T>C (p.Ser833=) rs1013417237 0.00004
NM_004370.6(COL12A1):c.2569C>G (p.Gln857Glu) rs201662983 0.00004
NM_004370.6(COL12A1):c.2603C>T (p.Thr868Met) rs572007088 0.00004
NM_004370.6(COL12A1):c.2637C>T (p.Tyr879=) rs191863996 0.00004
NM_004370.6(COL12A1):c.2693A>G (p.Glu898Gly) rs1180402350 0.00004
NM_004370.6(COL12A1):c.2799C>T (p.Arg933=) rs372499120 0.00004
NM_004370.6(COL12A1):c.2885T>C (p.Ile962Thr) rs746982506 0.00004
NM_004370.6(COL12A1):c.3021A>G (p.Glu1007=) rs368940290 0.00004
NM_004370.6(COL12A1):c.3080G>A (p.Arg1027His) rs79863717 0.00004
NM_004370.6(COL12A1):c.3247A>G (p.Thr1083Ala) rs375221786 0.00004
NM_004370.6(COL12A1):c.3630C>T (p.Ile1210=) rs572531941 0.00004
NM_004370.6(COL12A1):c.3718C>G (p.Leu1240Val) rs368773405 0.00004
NM_004370.6(COL12A1):c.3741C>T (p.Pro1247=) rs371282637 0.00004
NM_004370.6(COL12A1):c.3782G>A (p.Ser1261Asn) rs370339027 0.00004
NM_004370.6(COL12A1):c.3861A>G (p.Gln1287=) rs775456285 0.00004
NM_004370.6(COL12A1):c.4275G>T (p.Gly1425=) rs371112796 0.00004
NM_004370.6(COL12A1):c.456A>G (p.Gly152=) rs761930862 0.00004
NM_004370.6(COL12A1):c.4678C>T (p.Arg1560Trp) rs370360673 0.00004
NM_004370.6(COL12A1):c.4682A>T (p.Glu1561Val) rs944222774 0.00004
NM_004370.6(COL12A1):c.4798T>C (p.Tyr1600His) rs180718181 0.00004
NM_004370.6(COL12A1):c.4828G>A (p.Val1610Ile) rs374525546 0.00004
NM_004370.6(COL12A1):c.4900G>A (p.Val1634Ile) rs772992461 0.00004
NM_004370.6(COL12A1):c.4962C>T (p.Pro1654=) rs771078518 0.00004
NM_004370.6(COL12A1):c.4963G>A (p.Val1655Met) rs749368197 0.00004
NM_004370.6(COL12A1):c.5075T>C (p.Phe1692Ser) rs759692428 0.00004
NM_004370.6(COL12A1):c.5098-13C>T rs186255379 0.00004
NM_004370.6(COL12A1):c.5126T>C (p.Leu1709Ser) rs201810535 0.00004
NM_004370.6(COL12A1):c.5138A>G (p.Asn1713Ser) rs373020081 0.00004
NM_004370.6(COL12A1):c.5140C>G (p.Leu1714Val) rs753254039 0.00004
NM_004370.6(COL12A1):c.5336G>A (p.Arg1779His) rs748487098 0.00004
NM_004370.6(COL12A1):c.5340G>A (p.Val1780=) rs371016672 0.00004
NM_004370.6(COL12A1):c.5388G>A (p.Glu1796=) rs1479706901 0.00004
NM_004370.6(COL12A1):c.5410C>T (p.Arg1804Trp) rs201973949 0.00004
NM_004370.6(COL12A1):c.5425G>A (p.Val1809Ile) rs757737726 0.00004
NM_004370.6(COL12A1):c.5449A>G (p.Thr1817Ala) rs760315104 0.00004
NM_004370.6(COL12A1):c.546T>C (p.Val182=) rs764254293 0.00004
NM_004370.6(COL12A1):c.5493A>G (p.Glu1831=) rs747217911 0.00004
NM_004370.6(COL12A1):c.5587C>T (p.Arg1863Cys) rs201372309 0.00004
NM_004370.6(COL12A1):c.5770C>T (p.Arg1924Cys) rs775862147 0.00004
NM_004370.6(COL12A1):c.588G>A (p.Gln196=) rs748928908 0.00004
NM_004370.6(COL12A1):c.5895C>T (p.Arg1965=) rs376241836 0.00004
NM_004370.6(COL12A1):c.6066G>A (p.Thr2022=) rs754929219 0.00004
NM_004370.6(COL12A1):c.6067C>T (p.Leu2023=) rs751540913 0.00004
NM_004370.6(COL12A1):c.6070C>T (p.Pro2024Ser) rs771186535 0.00004
NM_004370.6(COL12A1):c.633A>G (p.Pro211=) rs541648868 0.00004
NM_004370.6(COL12A1):c.6345A>G (p.Gly2115=) rs553575841 0.00004
NM_004370.6(COL12A1):c.6607+8A>G rs781751102 0.00004
NM_004370.6(COL12A1):c.6608-4G>A rs374995108 0.00004
NM_004370.6(COL12A1):c.6608T>C (p.Leu2203Ser) rs370244195 0.00004
NM_004370.6(COL12A1):c.6878A>G (p.Lys2293Arg) rs1053454286 0.00004
NM_004370.6(COL12A1):c.6910C>T (p.Pro2304Ser) rs747966606 0.00004
NM_004370.6(COL12A1):c.6928A>G (p.Ile2310Val) rs752850582 0.00004
NM_004370.6(COL12A1):c.6940C>T (p.Arg2314Trp) rs368686970 0.00004
NM_004370.6(COL12A1):c.7005G>C (p.Gly2335=) rs760111437 0.00004
NM_004370.6(COL12A1):c.7086+14C>T rs778933089 0.00004
NM_004370.6(COL12A1):c.7107C>T (p.Ser2369=) rs754178898 0.00004
NM_004370.6(COL12A1):c.741T>G (p.Ile247Met) rs371124522 0.00004
NM_004370.6(COL12A1):c.7438G>A (p.Val2480Met) rs183898615 0.00004
NM_004370.6(COL12A1):c.7541A>G (p.Asp2514Gly) rs202109365 0.00004
NM_004370.6(COL12A1):c.7801G>T (p.Asp2601Tyr) rs757556640 0.00004
NM_004370.6(COL12A1):c.7840C>T (p.Pro2614Ser) rs772870762 0.00004
NM_004370.6(COL12A1):c.794G>A (p.Arg265His) rs778155362 0.00004
NM_004370.6(COL12A1):c.7950+20T>G rs752468536 0.00004
NM_004370.6(COL12A1):c.7976G>C (p.Ser2659Thr) rs773855825 0.00004
NM_004370.6(COL12A1):c.8020A>G (p.Ile2674Val) rs1199162597 0.00004
NM_004370.6(COL12A1):c.8277T>A (p.Gly2759=) rs187901672 0.00004
NM_004370.6(COL12A1):c.8406G>A (p.Pro2802=) rs761216954 0.00004
NM_004370.6(COL12A1):c.8465G>A (p.Arg2822Gln) rs756809634 0.00004
NM_004370.6(COL12A1):c.8469+10T>C rs375332527 0.00004
NM_004370.6(COL12A1):c.856C>G (p.Gln286Glu) rs369360559 0.00004
NM_004370.6(COL12A1):c.8609C>T (p.Pro2870Leu) rs751638930 0.00004
NM_004370.6(COL12A1):c.9038C>T (p.Pro3013Leu) rs376161354 0.00004
NM_004370.6(COL12A1):c.9187G>A (p.Gly3063Ser) rs746453262 0.00004
NM_004393.6(DAG1):c.1046C>T (p.Pro349Leu) rs200233956 0.00004
NM_004393.6(DAG1):c.1283G>A (p.Arg428Gln) rs780793711 0.00004
NM_004393.6(DAG1):c.1370G>A (p.Arg457Gln) rs756890406 0.00004
NM_004393.6(DAG1):c.1432A>G (p.Thr478Ala) rs767278957 0.00004
NM_004393.6(DAG1):c.1695C>T (p.Pro565=) rs773066265 0.00004
NM_004393.6(DAG1):c.2022C>T (p.Ile674=) rs199795910 0.00004
NM_004393.6(DAG1):c.2026G>C (p.Gly676Arg) rs757032530 0.00004
NM_004393.6(DAG1):c.2038C>T (p.Arg680Trp) rs775023091 0.00004
NM_004393.6(DAG1):c.2039G>A (p.Arg680Gln) rs376931365 0.00004
NM_004393.6(DAG1):c.2065C>T (p.Arg689Trp) rs138933315 0.00004
NM_004393.6(DAG1):c.2123C>T (p.Thr708Met) rs758254304 0.00004
NM_004393.6(DAG1):c.219C>T (p.Val73=) rs145165301 0.00004
NM_004393.6(DAG1):c.220G>A (p.Val74Ile) rs189360006 0.00004
NM_004393.6(DAG1):c.222C>T (p.Val74=) rs150727558 0.00004
NM_004393.6(DAG1):c.2326C>T (p.Arg776Cys) rs752441031 0.00004
NM_004393.6(DAG1):c.243C>G (p.Thr81=) rs202047972 0.00004
NM_004393.6(DAG1):c.2660G>A (p.Arg887Gln) rs776025512 0.00004
NM_004393.6(DAG1):c.286-5T>C rs894752417 0.00004
NM_004393.6(DAG1):c.294G>A (p.Ala98=) rs752506833 0.00004
NM_004393.6(DAG1):c.45G>A (p.Gly15=) rs771967262 0.00004
NM_004393.6(DAG1):c.535T>A (p.Ser179Thr) rs201869343 0.00004
NM_004393.6(DAG1):c.539C>T (p.Ser180Phe) rs756584618 0.00004
NM_004393.6(DAG1):c.835G>T (p.Ala279Ser) rs202239406 0.00004
NM_004393.6(DAG1):c.853G>A (p.Ala285Thr) rs78720195 0.00004
NM_004393.6(DAG1):c.971T>A (p.Ile324Asn) rs745449164 0.00004
NM_005198.5(CHKB):c.1018G>C (p.Val340Leu) rs756893592 0.00004
NM_005198.5(CHKB):c.1031+9G>A rs773203764 0.00004
NM_005198.5(CHKB):c.184C>T (p.Arg62Cys) rs147043849 0.00004
NM_005198.5(CHKB):c.293C>T (p.Pro98Leu) rs750678988 0.00004
NM_005198.5(CHKB):c.687A>G (p.Leu229=) rs754693809 0.00004
NM_005198.5(CHKB):c.737-16C>T rs773669615 0.00004
NM_005198.5(CHKB):c.908A>G (p.Tyr303Cys) rs143061031 0.00004
NM_006876.3(B4GAT1):c.241G>A (p.Val81Ile) rs774458027 0.00004
NM_006876.3(B4GAT1):c.297G>A (p.Thr99=) rs772838995 0.00004
NM_006876.3(B4GAT1):c.312C>T (p.Asp104=) rs781614449 0.00004
NM_013382.7(POMT2):c.*119T>C rs886050824 0.00004
NM_013382.7(POMT2):c.*11A>G rs373236103 0.00004
NM_013382.7(POMT2):c.*1265T>G rs886050816 0.00004
NM_013382.7(POMT2):c.*2359A>T rs564345093 0.00004
NM_013382.7(POMT2):c.*809G>A rs1035134599 0.00004
NM_013382.7(POMT2):c.1017C>T (p.Tyr339=) rs1026361359 0.00004
NM_013382.7(POMT2):c.1081C>T (p.Leu361Phe) rs771509741 0.00004
NM_013382.7(POMT2):c.1106G>A (p.Arg369His) rs398124260 0.00004
NM_013382.7(POMT2):c.1142A>G (p.Tyr381Cys) rs375840897 0.00004
NM_013382.7(POMT2):c.1253+9A>G rs187294379 0.00004
NM_013382.7(POMT2):c.128A>G (p.Lys43Arg) rs745417690 0.00004
NM_013382.7(POMT2):c.1485-4A>C rs794727127 0.00004
NM_013382.7(POMT2):c.1654-10C>T rs754208063 0.00004
NM_013382.7(POMT2):c.1692G>A (p.Thr564=) rs183828175 0.00004
NM_013382.7(POMT2):c.1700C>T (p.Pro567Leu) rs376689848 0.00004
NM_013382.7(POMT2):c.1732C>T (p.Arg578Cys) rs148466370 0.00004
NM_013382.7(POMT2):c.1785G>A (p.Pro595=) rs202237807 0.00004
NM_013382.7(POMT2):c.1913G>A (p.Arg638Gln) rs779390236 0.00004
NM_013382.7(POMT2):c.2013C>T (p.Leu671=) rs751776398 0.00004
NM_013382.7(POMT2):c.2058G>T (p.Arg686=) rs751651828 0.00004
NM_013382.7(POMT2):c.41T>C (p.Leu14Pro) rs777504929 0.00004
NM_013382.7(POMT2):c.61T>C (p.Cys21Arg) rs767316912 0.00004
NM_013382.7(POMT2):c.631G>A (p.Val211Ile) rs373139592 0.00004
NM_013382.7(POMT2):c.817-18G>A rs200104520 0.00004
NM_013382.7(POMT2):c.817-19C>T rs202191456 0.00004
NM_013382.7(POMT2):c.846T>A (p.Arg282=) rs750579071 0.00004
NM_017739.4(POMGNT1):c.1101C>T (p.Arg367=) rs775495503 0.00004
NM_017739.4(POMGNT1):c.1195G>A (p.Ala399Thr) rs1276215978 0.00004
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869 0.00004
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960 0.00004
NM_017739.4(POMGNT1):c.1476C>A (p.Ile492=) rs375432782 0.00004
NM_017739.4(POMGNT1):c.1568A>G (p.Asn523Ser) rs372610527 0.00004
NM_017739.4(POMGNT1):c.1571C>T (p.Thr524Met) rs769180238 0.00004
NM_017739.4(POMGNT1):c.1604+14G>A rs746108694 0.00004
NM_017739.4(POMGNT1):c.1855A>T (p.Asn619Tyr) rs374401585 0.00004
NM_017739.4(POMGNT1):c.1927T>G (p.Phe643Val) rs199534074 0.00004
NM_017739.4(POMGNT1):c.208G>A (p.Glu70Lys) rs201361648 0.00004
NM_017739.4(POMGNT1):c.268C>T (p.Arg90Cys) rs144959783 0.00004
NM_017739.4(POMGNT1):c.354+3C>T rs372425155 0.00004
NM_017739.4(POMGNT1):c.492C>T (p.Leu164=) rs562534688 0.00004
NM_017739.4(POMGNT1):c.751+10G>A rs200759272 0.00004
NM_017739.4(POMGNT1):c.772G>A (p.Asp258Asn) rs143736961 0.00004
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln) rs193919336 0.00004
NM_017739.4(POMGNT1):c.951-12T>C rs753164362 0.00004
NM_017739.4(POMGNT1):c.99G>T (p.Arg33=) rs767852518 0.00004
NM_020451.3(SELENON):c.10G>C (p.Ala4Pro) rs1371866855 0.00004
NM_020451.3(SELENON):c.1110G>A (p.Thr370=) rs779080942 0.00004
NM_020451.3(SELENON):c.1129G>A (p.Val377Met) rs369709974 0.00004
NM_020451.3(SELENON):c.1363G>T (p.Ala455Ser) rs374687219 0.00004
NM_020451.3(SELENON):c.1387+12G>A rs764241591 0.00004
NM_020451.3(SELENON):c.1419G>A (p.Leu473=) rs746181391 0.00004
NM_020451.3(SELENON):c.1455C>T (p.Ser485=) rs575407217 0.00004
NM_020451.3(SELENON):c.1574T>G (p.Met525Arg) rs761631813 0.00004
NM_020451.3(SELENON):c.183+14C>G rs794726949 0.00004
NM_020451.3(SELENON):c.186A>G (p.Glu62=) rs777994853 0.00004
NM_020451.3(SELENON):c.392T>G (p.Leu131Arg) rs774592112 0.00004
NM_020451.3(SELENON):c.417G>A (p.Ala139=) rs535581420 0.00004
NM_020451.3(SELENON):c.942C>T (p.Thr314=) rs747506928 0.00004
NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr) rs761714818 0.00004
NM_021971.4(GMPPB):c.953T>C (p.Val318Ala) rs559784211 0.00004
NM_024301.5(FKRP):c.1119C>A (p.Gly373=) rs370575962 0.00004
NM_024301.5(FKRP):c.1236C>T (p.His412=) rs201076863 0.00004
NM_024301.5(FKRP):c.1376C>T (p.Ala459Val) rs749109905 0.00004
NM_024301.5(FKRP):c.1377G>C (p.Ala459=) rs770845177 0.00004
NM_024301.5(FKRP):c.1407G>A (p.Leu469=) rs1351635868 0.00004
NM_024301.5(FKRP):c.229C>T (p.Gln77Ter) rs1051900223 0.00004
NM_024301.5(FKRP):c.232C>T (p.Pro78Ser) rs747511445 0.00004
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp) rs758759348 0.00004
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys) rs543163491 0.00004
NM_024301.5(FKRP):c.569G>A (p.Arg190His) rs917645867 0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691 0.00004
NM_032237.5(POMK):c.142T>C (p.Ser48Pro) rs34466747 0.00004
NM_032237.5(POMK):c.236C>G (p.Thr79Arg) rs773908820 0.00004
NM_032237.5(POMK):c.363T>C (p.His121=) rs374766465 0.00004
NM_032237.5(POMK):c.773A>G (p.Gln258Arg) rs397509386 0.00004
NM_032237.5(POMK):c.796G>A (p.Val266Met) rs543448796 0.00004
NM_032806.6(POMGNT2):c.1181G>A (p.Arg394Gln) rs199612856 0.00004
NM_032806.6(POMGNT2):c.1246C>T (p.His416Tyr) rs373885542 0.00004
NM_032806.6(POMGNT2):c.1660A>G (p.Thr554Ala) rs202058055 0.00004
NM_032806.6(POMGNT2):c.1725G>A (p.Val575=) rs371375820 0.00004
NM_032806.6(POMGNT2):c.1739C>T (p.Thr580Met) rs367621319 0.00004
NM_032806.6(POMGNT2):c.222C>T (p.His74=) rs141040291 0.00004
NM_032806.6(POMGNT2):c.230G>A (p.Arg77His) rs769075803 0.00004
NM_032806.6(POMGNT2):c.25G>A (p.Ala9Thr) rs761633368 0.00004
NM_032806.6(POMGNT2):c.286T>G (p.Phe96Val) rs140047437 0.00004
NM_032806.6(POMGNT2):c.30C>T (p.Leu10=) rs147920308 0.00004
NM_032806.6(POMGNT2):c.397G>A (p.Val133Met) rs139204684 0.00004
NM_032806.6(POMGNT2):c.437C>T (p.Pro146Leu) rs780964337 0.00004
NM_032806.6(POMGNT2):c.453C>T (p.Asp151=) rs547735064 0.00004
NM_032806.6(POMGNT2):c.510C>T (p.Asp170=) rs148958732 0.00004
NM_032806.6(POMGNT2):c.594C>T (p.Gly198=) rs766704217 0.00004
NM_032806.6(POMGNT2):c.598G>A (p.Gly200Ser) rs750647755 0.00004
NM_032806.6(POMGNT2):c.896T>G (p.Leu299Arg) rs942782071 0.00004
NM_133642.5(LARGE1):c.*566G>A rs878945156 0.00004
NM_133642.5(LARGE1):c.1116C>T (p.Asp372=) rs398124182 0.00004
NM_133642.5(LARGE1):c.1287+11C>T rs398124183 0.00004
NM_133642.5(LARGE1):c.1287C>T (p.Asn429=) rs561439887 0.00004
NM_133642.5(LARGE1):c.1349G>A (p.Arg450His) rs371071263 0.00004
NM_133642.5(LARGE1):c.1413C>A (p.Ser471Arg) rs376160270 0.00004
NM_133642.5(LARGE1):c.1451+11C>T rs201322547 0.00004
NM_133642.5(LARGE1):c.1597A>G (p.Ile533Val) rs566107119 0.00004
NM_133642.5(LARGE1):c.1746G>A (p.Gln582=) rs114161191 0.00004
NM_133642.5(LARGE1):c.1941G>A (p.Thr647=) rs770327327 0.00004
NM_133642.5(LARGE1):c.201G>C (p.Val67=) rs135312 0.00004
NM_133642.5(LARGE1):c.221A>C (p.Glu74Ala) rs751789128 0.00004
NM_133642.5(LARGE1):c.2222G>A (p.Arg741His) rs747003834 0.00004
NM_133642.5(LARGE1):c.2257G>A (p.Glu753Lys) rs139853494 0.00004
NM_133642.5(LARGE1):c.259C>A (p.Gln87Lys) rs373853930 0.00004
NM_133642.5(LARGE1):c.26G>A (p.Arg9Gln) rs763697782 0.00004
NM_133642.5(LARGE1):c.533C>T (p.Ala178Val) rs377460238 0.00004
NM_133642.5(LARGE1):c.703C>T (p.Leu235=) rs376057149 0.00004
NM_133642.5(LARGE1):c.81T>A (p.Ile27=) rs145861048 0.00004
NM_152490.5(B3GALNT2):c.102C>G (p.Ala34=) rs1358930332 0.00004
NM_152490.5(B3GALNT2):c.1090G>A (p.Glu364Lys) rs138436770 0.00004
NM_152490.5(B3GALNT2):c.1434G>A (p.Pro478=) rs754116208 0.00004
NM_152490.5(B3GALNT2):c.29C>G (p.Pro10Arg) rs1335073175 0.00004
NM_152490.5(B3GALNT2):c.31T>G (p.Cys11Gly) rs953296331 0.00004
NM_152490.5(B3GALNT2):c.396C>T (p.Ser132=) rs140100348 0.00004
NM_152490.5(B3GALNT2):c.397G>A (p.Glu133Lys) rs146090744 0.00004
NM_152490.5(B3GALNT2):c.500A>G (p.Asn167Ser) rs144123418 0.00004
NM_152490.5(B3GALNT2):c.628G>A (p.Val210Met) rs781198538 0.00004
NM_152490.5(B3GALNT2):c.64C>T (p.Arg22Trp) rs962461243 0.00004
NM_152490.5(B3GALNT2):c.706A>G (p.Arg236Gly) rs113948040 0.00004
NM_152490.5(B3GALNT2):c.979G>A (p.Asp327Asn) rs753340395 0.00004
NM_153741.2(DPM3):c.127G>A (p.Ala43Thr) rs778766264 0.00004
NM_170707.4(LMNA):c.1255C>T (p.Arg419Cys) rs755686359 0.00004
NM_170707.4(LMNA):c.1299C>T (p.His433=) rs61217436 0.00004
NM_170707.4(LMNA):c.1931G>A (p.Arg644His) rs368386019 0.00004
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901 0.00004
NM_170707.4(LMNA):c.467G>A (p.Arg156His) rs764475194 0.00004
NM_170707.4(LMNA):c.692A>G (p.Asn231Ser) rs760388350 0.00004
NM_170707.4(LMNA):c.848A>G (p.Asn283Ser) rs765241364 0.00004
NM_170707.4(LMNA):c.936+12C>T rs199881992 0.00004
NM_173660.5(DOK7):c.1023C>T (p.Ala341=) rs773612095 0.00004
NM_173660.5(DOK7):c.1138G>T (p.Ala380Ser) rs760412846 0.00004
NM_173660.5(DOK7):c.1318G>A (p.Ala440Thr) rs753026831 0.00004
NM_173660.5(DOK7):c.1384A>G (p.Ser462Gly) rs771017173 0.00004
NM_173660.5(DOK7):c.1386C>T (p.Ser462=) rs776733631 0.00004
NM_173660.5(DOK7):c.257C>T (p.Ala86Val) rs575986565 0.00004
NM_173660.5(DOK7):c.308G>A (p.Arg103Gln) rs377554325 0.00004
NM_173660.5(DOK7):c.54+10C>T rs1260785223 0.00004
NM_173660.5(DOK7):c.541G>A (p.Val181Ile) rs146076204 0.00004
NM_173660.5(DOK7):c.652+14C>G rs368188578 0.00004
NM_173660.5(DOK7):c.730C>T (p.Arg244Trp) rs140544446 0.00004
NM_173660.5(DOK7):c.772+20T>C rs376466543 0.00004
NM_173660.5(DOK7):c.773-7G>A rs775008753 0.00004
NM_173660.5(DOK7):c.797C>T (p.Ser266Leu) rs763936252 0.00004
NM_173660.5(DOK7):c.866C>T (p.Ser289Leu) rs748566350 0.00004
NM_173660.5(DOK7):c.880A>G (p.Thr294Ala) rs143821601 0.00004
NM_173660.5(DOK7):c.952C>A (p.Pro318Thr) rs754476094 0.00004
NM_000426.4(LAMA2):c.2451-2A>G rs993196576 0.00003
NM_000426.4(LAMA2):c.2477G>A (p.Arg826Gln) rs759973830 0.00003
NM_000426.4(LAMA2):c.2609A>G (p.Asn870Ser) rs1322715021 0.00003
NM_000426.4(LAMA2):c.3085C>T (p.Arg1029Ter) rs145420388 0.00003
NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter) rs398123373 0.00003
NM_000426.4(LAMA2):c.4471G>A (p.Asp1491Asn) rs375640462 0.00003
NM_000426.4(LAMA2):c.4960-17C>A rs758048596 0.00003
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter) rs747349942 0.00003
NM_000426.4(LAMA2):c.5477G>A (p.Arg1826Gln) rs373614496 0.00003
NM_000426.4(LAMA2):c.6269-829A>G rs758519410 0.00003
NM_000426.4(LAMA2):c.640-1G>A rs1296761337 0.00003
NM_000426.4(LAMA2):c.6702A>T (p.Ala2234=) rs372212378 0.00003
NM_000426.4(LAMA2):c.712G>A (p.Ala238Thr) rs779975082 0.00003
NM_000426.4(LAMA2):c.939_940del (p.Cys314fs) rs1209130981 0.00003
NM_001077365.2(POMT1):c.-30G>A rs780382988 0.00003
NM_001077365.2(POMT1):c.1052A>G (p.Asn351Ser) rs756531223 0.00003
NM_001077365.2(POMT1):c.1084C>A (p.His362Asn) rs141229412 0.00003
NM_001077365.2(POMT1):c.111G>C (p.Pro37=) rs761641734 0.00003
NM_001077365.2(POMT1):c.1302C>T (p.Asp434=) rs568246978 0.00003
NM_001077365.2(POMT1):c.1366-11G>A rs1157478556 0.00003
NM_001077365.2(POMT1):c.1366-12C>T rs757666938 0.00003
NM_001077365.2(POMT1):c.1488C>T (p.Ser496=) rs727503872 0.00003
NM_001077365.2(POMT1):c.1584+10G>A rs377495957 0.00003
NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu) rs149682171 0.00003
NM_001077365.2(POMT1):c.2004-1G>C rs745738628 0.00003
NM_001077365.2(POMT1):c.202T>C (p.Phe68Leu) rs138433752 0.00003
NM_001077365.2(POMT1):c.2032G>A (p.Ala678Thr) rs747903773 0.00003
NM_001077365.2(POMT1):c.2083C>T (p.Arg695Cys) rs200179598 0.00003
NM_001077365.2(POMT1):c.291C>T (p.Ser97=) rs780884926 0.00003
NM_001077365.2(POMT1):c.294C>T (p.Asn98=) rs745810979 0.00003
NM_001077365.2(POMT1):c.328C>T (p.Leu110Phe) rs1338443127 0.00003
NM_001077365.2(POMT1):c.600A>G (p.Ala200=) rs755854450 0.00003
NM_001077365.2(POMT1):c.630G>A (p.Thr210=) rs553160213 0.00003
NM_001077365.2(POMT1):c.634G>A (p.Val212Met) rs746119386 0.00003
NM_001077365.2(POMT1):c.699+72T>C rs200780140 0.00003
NM_001077365.2(POMT1):c.757G>A (p.Val253Ile) rs772590277 0.00003
NM_001079802.2(FKTN):c.*1276C>T rs886063325 0.00003
NM_001079802.2(FKTN):c.*2505A>G rs367988702 0.00003
NM_001079802.2(FKTN):c.*760A>C rs532531159 0.00003
NM_001079802.2(FKTN):c.*79C>T rs530616539 0.00003
NM_001079802.2(FKTN):c.-136A>G rs886063318 0.00003
NM_001079802.2(FKTN):c.1249G>A (p.Glu417Lys) rs765934383 0.00003
NM_001079802.2(FKTN):c.124A>G (p.Lys42Glu) rs752663857 0.00003
NM_001079802.2(FKTN):c.1357G>A (p.Glu453Lys) rs759936979 0.00003
NM_001079802.2(FKTN):c.140G>A (p.Arg47Gln) rs753641411 0.00003
NM_001079802.2(FKTN):c.247A>G (p.Ile83Val) rs757798867 0.00003
NM_001079802.2(FKTN):c.393G>A (p.Glu131=) rs1472560195 0.00003
NM_001079802.2(FKTN):c.402A>T (p.Gly134=) rs780921233 0.00003
NM_001079802.2(FKTN):c.510G>A (p.Ala170=) rs187804924 0.00003
NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr) rs373418195 0.00003
NM_001079802.2(FKTN):c.821G>A (p.Arg274Gln) rs767503045 0.00003
NM_001079802.2(FKTN):c.911-8C>A rs749557617 0.00003
NM_001101426.4(CRPPA):c.1120-10T>C rs200836986 0.00003
NM_001101426.4(CRPPA):c.1251+11T>C rs199790485 0.00003
NM_001101426.4(CRPPA):c.1264C>T (p.Leu422=) rs375514450 0.00003
NM_001101426.4(CRPPA):c.200A>C (p.Gln67Pro) rs886043637 0.00003
NM_001101426.4(CRPPA):c.362A>G (p.Glu121Gly) rs757846188 0.00003
NM_001101426.4(CRPPA):c.614G>A (p.Arg205His) rs566179705 0.00003
NM_001101426.4(CRPPA):c.643C>T (p.Gln215Ter) rs370627877 0.00003
NM_001101426.4(CRPPA):c.695A>G (p.Tyr232Cys) rs200114996 0.00003
NM_001101426.4(CRPPA):c.815C>T (p.Ala272Val) rs765545106 0.00003
NM_001101426.4(CRPPA):c.827T>C (p.Ile276Thr) rs1314571093 0.00003
NM_001378328.1(CELSR1):c.4415C>G (p.Thr1472Ser) rs931374138 0.00003
NM_001848.3(COL6A1):c.1059C>T (p.Gly353=) rs371231107 0.00003
NM_001848.3(COL6A1):c.1093G>A (p.Gly365Ser) rs558291025 0.00003
NM_001848.3(COL6A1):c.1145C>T (p.Ala382Val) rs765631918 0.00003
NM_001848.3(COL6A1):c.1272+11C>T rs371785147 0.00003
NM_001848.3(COL6A1):c.1362G>A (p.Gln454=) rs762392600 0.00003
NM_001848.3(COL6A1):c.1399-8C>G rs749529856 0.00003
NM_001848.3(COL6A1):c.1505C>T (p.Pro502Leu) rs398123632 0.00003
NM_001848.3(COL6A1):c.1521A>G (p.Glu507=) rs781233511 0.00003
NM_001848.3(COL6A1):c.1534G>A (p.Gly512Ser) rs201153092 0.00003
NM_001848.3(COL6A1):c.1539C>T (p.Pro513=) rs150834054 0.00003
NM_001848.3(COL6A1):c.1566C>T (p.Pro522=) rs753063150 0.00003
NM_001848.3(COL6A1):c.1647G>A (p.Glu549=) rs532756899 0.00003
NM_001848.3(COL6A1):c.1671C>T (p.Asp557=) rs770099663 0.00003
NM_001848.3(COL6A1):c.1931G>A (p.Arg644Gln) rs398123634 0.00003
NM_001848.3(COL6A1):c.1957-10G>A rs761863286 0.00003
NM_001848.3(COL6A1):c.1960G>A (p.Glu654Lys) rs375318905 0.00003
NM_001848.3(COL6A1):c.1976A>T (p.Tyr659Phe) rs752045107 0.00003
NM_001848.3(COL6A1):c.1979C>T (p.Ala660Val) rs748997622 0.00003
NM_001848.3(COL6A1):c.2019C>T (p.His673=) rs141424786 0.00003
NM_001848.3(COL6A1):c.2242G>A (p.Gly748Ser) rs142881632 0.00003
NM_001848.3(COL6A1):c.2251-20G>A rs369894106 0.00003
NM_001848.3(COL6A1):c.2289C>A (p.Ile763=) rs751446262 0.00003
NM_001848.3(COL6A1):c.2512G>A (p.Ala838Thr) rs529770550 0.00003
NM_001848.3(COL6A1):c.2548C>A (p.Arg850Ser) rs566453317 0.00003
NM_001848.3(COL6A1):c.2603C>T (p.Ala868Val) rs565089447 0.00003
NM_001848.3(COL6A1):c.262G>A (p.Ala88Thr) rs540429266 0.00003
NM_001848.3(COL6A1):c.2743G>A (p.Asp915Asn) rs763910773 0.00003
NM_001848.3(COL6A1):c.2765A>G (p.Tyr922Cys) rs886043011 0.00003
NM_001848.3(COL6A1):c.2848G>A (p.Ala950Thr) rs771844518 0.00003
NM_001848.3(COL6A1):c.2863A>G (p.Ile955Val) rs373070436 0.00003
NM_001848.3(COL6A1):c.2910C>T (p.Phe970=) rs759623301 0.00003
NM_001848.3(COL6A1):c.2950C>T (p.Arg984Cys) rs568039462 0.00003
NM_001848.3(COL6A1):c.2951G>A (p.Arg984His) rs746877994 0.00003
NM_001848.3(COL6A1):c.3043G>A (p.Gly1015Ser) rs763470078 0.00003
NM_001848.3(COL6A1):c.311C>T (p.Thr104Met) rs781396484 0.00003
NM_001848.3(COL6A1):c.340A>G (p.Lys114Glu) rs763049658 0.00003
NM_001848.3(COL6A1):c.378C>T (p.Gly126=) rs776619127 0.00003
NM_001848.3(COL6A1):c.423C>T (p.Leu141=) rs373486149 0.00003
NM_001848.3(COL6A1):c.471C>T (p.Thr157=) rs376650683 0.00003
NM_001848.3(COL6A1):c.665G>A (p.Arg222His) rs780638665 0.00003
NM_001848.3(COL6A1):c.68C>T (p.Pro23Leu) rs775946362 0.00003
NM_001848.3(COL6A1):c.706G>A (p.Val236Met) rs145269003 0.00003
NM_001848.3(COL6A1):c.750C>A (p.Phe250Leu) rs748153811 0.00003
NM_001848.3(COL6A1):c.759+13C>T rs1250324207 0.00003
NM_001848.3(COL6A1):c.919C>T (p.Arg307Cys) rs780703597 0.00003
NM_001848.3(COL6A1):c.930+13C>T rs370271954 0.00003
NM_001848.3(COL6A1):c.951C>T (p.Gly317=) rs770350586 0.00003
NM_001849.4(COL6A2):c.1052G>A (p.Arg351Gln) rs747093518 0.00003
NM_001849.4(COL6A2):c.115+10G>T rs200797233 0.00003
NM_001849.4(COL6A2):c.1180-12C>T rs1189408610 0.00003
NM_001849.4(COL6A2):c.1237G>A (p.Gly413Arg) rs762490709 0.00003
NM_001849.4(COL6A2):c.1287C>T (p.Pro429=) rs755258603 0.00003
NM_001849.4(COL6A2):c.1359C>T (p.Arg453=) rs750842859 0.00003
NM_001849.4(COL6A2):c.1395+9G>C rs747883263 0.00003
NM_001849.4(COL6A2):c.1410G>A (p.Leu470=) rs145012001 0.00003
NM_001849.4(COL6A2):c.1447C>T (p.Pro483Ser) rs375694341 0.00003
NM_001849.4(COL6A2):c.1461del (p.Ser488fs) rs398123645 0.00003
NM_001849.4(COL6A2):c.1522-7C>T rs200501842 0.00003
NM_001849.4(COL6A2):c.1598G>A (p.Arg533His) rs781676156 0.00003
NM_001849.4(COL6A2):c.162G>A (p.Ser54=) rs780123839 0.00003
NM_001849.4(COL6A2):c.1671+13G>A rs756078022 0.00003
NM_001849.4(COL6A2):c.169G>A (p.Val57Ile) rs768434256 0.00003
NM_001849.4(COL6A2):c.1770G>A (p.Thr590=) rs150999832 0.00003
NM_001849.4(COL6A2):c.1792G>A (p.Val598Met) rs149731632 0.00003
NM_001849.4(COL6A2):c.1809G>A (p.Gly603=) rs767902639 0.00003
NM_001849.4(COL6A2):c.1829G>A (p.Arg610His) rs758550765 0.00003
NM_001849.4(COL6A2):c.1855G>A (p.Val619Ile) rs7283272 0.00003
NM_001849.4(COL6A2):c.1872G>A (p.Glu624=) rs147566231 0.00003
NM_001849.4(COL6A2):c.1962C>T (p.Ser654=) rs150253422 0.00003
NM_001849.4(COL6A2):c.1969+4A>C rs775997945 0.00003
NM_001849.4(COL6A2):c.1969+6C>T rs374669895 0.00003
NM_001849.4(COL6A2):c.2084A>C (p.Glu695Ala) rs774611719 0.00003
NM_001849.4(COL6A2):c.2158C>T (p.Arg720Cys) rs748592288 0.00003
NM_001849.4(COL6A2):c.2234G>A (p.Arg745Gln) rs768280699 0.00003
NM_001849.4(COL6A2):c.2235G>T (p.Arg745=) rs773668391 0.00003
NM_001849.4(COL6A2):c.2243G>A (p.Cys748Tyr) rs200072495 0.00003
NM_001849.4(COL6A2):c.2319C>T (p.Tyr773=) rs377458657 0.00003
NM_001849.4(COL6A2):c.2361G>A (p.Thr787=) rs566966690 0.00003
NM_001849.4(COL6A2):c.2461+10G>A rs777710817 0.00003
NM_001849.4(COL6A2):c.2461+16C>T rs769731536 0.00003
NM_001849.4(COL6A2):c.2462-17C>T rs1368389922 0.00003
NM_001849.4(COL6A2):c.2462-5C>T rs760890154 0.00003
NM_001849.4(COL6A2):c.2488C>T (p.Arg830Trp) rs373072443 0.00003
NM_001849.4(COL6A2):c.2527C>T (p.Arg843Trp) rs376880198 0.00003
NM_001849.4(COL6A2):c.2548C>T (p.His850Tyr) rs374166613 0.00003
NM_001849.4(COL6A2):c.2595G>A (p.Leu865=) rs1474756520 0.00003
NM_001849.4(COL6A2):c.2733G>A (p.Leu911=) rs139798208 0.00003
NM_001849.4(COL6A2):c.2755G>A (p.Ala919Thr) rs372523558 0.00003
NM_001849.4(COL6A2):c.2773A>C (p.Ile925Leu) rs772894756 0.00003
NM_001849.4(COL6A2):c.2806G>A (p.Ala936Thr) rs376173871 0.00003
NM_001849.4(COL6A2):c.2843C>T (p.Thr948Met) rs367980010 0.00003
NM_001849.4(COL6A2):c.284G>A (p.Arg95His) rs886042690 0.00003
NM_001849.4(COL6A2):c.2985C>T (p.Ala995=) rs752243349 0.00003
NM_001849.4(COL6A2):c.332C>T (p.Pro111Leu) rs747184649 0.00003
NM_001849.4(COL6A2):c.333G>A (p.Pro111=) rs370531466 0.00003
NM_001849.4(COL6A2):c.471C>T (p.Ala157=) rs372298335 0.00003
NM_001849.4(COL6A2):c.522G>A (p.Lys174=) rs554016354 0.00003
NM_001849.4(COL6A2):c.581A>G (p.Gln194Arg) rs113509166 0.00003
NM_001849.4(COL6A2):c.596A>G (p.Gln199Arg) rs886044068 0.00003
NM_001849.4(COL6A2):c.673G>A (p.Glu225Lys) rs770150581 0.00003
NM_001849.4(COL6A2):c.720C>T (p.His240=) rs763803023 0.00003
NM_001849.4(COL6A2):c.729C>T (p.Tyr243=) rs200824569 0.00003
NM_001849.4(COL6A2):c.863C>T (p.Pro288Leu) rs745566911 0.00003
NM_001849.4(COL6A2):c.879C>T (p.Pro293=) rs138389174 0.00003
NM_001849.4(COL6A2):c.903C>T (p.Gly301=) rs541325013 0.00003
NM_001849.4(COL6A2):c.904G>A (p.Val302Ile) rs755822013 0.00003
NM_001849.4(COL6A2):c.999+14C>T rs761013382 0.00003
NM_002206.3(ITGA7):c.1040G>A (p.Arg347His) rs775063840 0.00003
NM_002206.3(ITGA7):c.1143C>T (p.Phe381=) rs774888135 0.00003
NM_002206.3(ITGA7):c.1459A>G (p.Ser487Gly) rs934502279 0.00003
NM_002206.3(ITGA7):c.1506-4G>A rs755782601 0.00003
NM_002206.3(ITGA7):c.1534A>G (p.Ile512Val) rs767276735 0.00003
NM_002206.3(ITGA7):c.1639A>G (p.Ser547Gly) rs775740380 0.00003
NM_002206.3(ITGA7):c.1810C>T (p.Arg604Ter) rs141365537 0.00003
NM_002206.3(ITGA7):c.1888-3C>T rs759601500 0.00003
NM_002206.3(ITGA7):c.1966A>G (p.Thr656Ala) rs145740314 0.00003
NM_002206.3(ITGA7):c.2004-8C>T rs374198533 0.00003
NM_002206.3(ITGA7):c.2145C>A (p.Val715=) rs375961499 0.00003
NM_002206.3(ITGA7):c.2307C>T (p.Ser769=) rs781670676 0.00003
NM_002206.3(ITGA7):c.2399G>A (p.Arg800His) rs143929243 0.00003
NM_002206.3(ITGA7):c.254C>T (p.Ala85Val) rs150476577 0.00003
NM_002206.3(ITGA7):c.2556G>A (p.Ser852=) rs138301131 0.00003
NM_002206.3(ITGA7):c.2712+19T>C rs200542108 0.00003
NM_002206.3(ITGA7):c.2738G>A (p.Arg913Gln) rs755263823 0.00003
NM_002206.3(ITGA7):c.3057+20G>A rs567515236 0.00003
NM_002206.3(ITGA7):c.3309C>G (p.Asn1103Lys) rs768823556 0.00003
NM_002206.3(ITGA7):c.3322C>T (p.Arg1108Trp) rs775801045 0.00003
NM_002206.3(ITGA7):c.3409G>A (p.Ala1137Thr) rs772419744 0.00003
NM_002206.3(ITGA7):c.385C>T (p.Arg129Trp) rs773647967 0.00003
NM_002206.3(ITGA7):c.485G>A (p.Arg162His) rs781445250 0.00003
NM_002206.3(ITGA7):c.659A>G (p.Tyr220Cys) rs748436706 0.00003
NM_002206.3(ITGA7):c.746G>A (p.Arg249Gln) rs372043286 0.00003
NM_002206.3(ITGA7):c.780T>C (p.Asn260=) rs761176970 0.00003
NM_002206.3(ITGA7):c.806C>T (p.Ser269Leu) rs764610914 0.00003
NM_002206.3(ITGA7):c.925G>T (p.Val309Phe) rs140716825 0.00003
NM_003863.4(DPM2):c.146A>G (p.Tyr49Cys) rs779093563 0.00003
NM_004369.4(COL6A3):c.1087C>T (p.Arg363Cys) rs759280111 0.00003
NM_004369.4(COL6A3):c.1217G>A (p.Arg406His) rs753651742 0.00003
NM_004369.4(COL6A3):c.1506T>C (p.His502=) rs770990749 0.00003
NM_004369.4(COL6A3):c.1566C>A (p.Ala522=) rs771948237 0.00003
NM_004369.4(COL6A3):c.1574C>T (p.Thr525Met) rs755178814 0.00003
NM_004369.4(COL6A3):c.1614G>A (p.Thr538=) rs535142787 0.00003
NM_004369.4(COL6A3):c.1636G>A (p.Ala546Thr) rs150377792 0.00003
NM_004369.4(COL6A3):c.1751A>G (p.Asn584Ser) rs375285237 0.00003
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) rs398124119 0.00003
NM_004369.4(COL6A3):c.1785C>T (p.Ile595=) rs114278376 0.00003
NM_004369.4(COL6A3):c.1898-5T>C rs373563217 0.00003
NM_004369.4(COL6A3):c.2068G>A (p.Glu690Lys) rs368161217 0.00003
NM_004369.4(COL6A3):c.2153A>G (p.Asn718Ser) rs748641277 0.00003
NM_004369.4(COL6A3):c.2219G>A (p.Arg740His) rs529827991 0.00003
NM_004369.4(COL6A3):c.2269G>A (p.Asp757Asn) rs544229002 0.00003
NM_004369.4(COL6A3):c.2497+9C>A rs774198344 0.00003
NM_004369.4(COL6A3):c.249C>T (p.Phe83=) rs758434537 0.00003
NM_004369.4(COL6A3):c.252C>T (p.Asn84=) rs765786832 0.00003
NM_004369.4(COL6A3):c.2561T>C (p.Val854Ala) rs747449879 0.00003
NM_004369.4(COL6A3):c.2730G>A (p.Thr910=) rs367991818 0.00003
NM_004369.4(COL6A3):c.2993C>T (p.Ser998Leu) rs774161895 0.00003
NM_004369.4(COL6A3):c.2998C>T (p.Pro1000Ser) rs762584015 0.00003
NM_004369.4(COL6A3):c.3311C>T (p.Pro1104Leu) rs371991808 0.00003
NM_004369.4(COL6A3):c.3371C>T (p.Ala1124Val) rs374447921 0.00003
NM_004369.4(COL6A3):c.3472G>A (p.Gly1158Ser) rs753056634 0.00003
NM_004369.4(COL6A3):c.3653C>T (p.Pro1218Leu) rs75071027 0.00003
NM_004369.4(COL6A3):c.3654G>A (p.Pro1218=) rs778039312 0.00003
NM_004369.4(COL6A3):c.3679+4C>T rs774411894 0.00003
NM_004369.4(COL6A3):c.3680-18C>G rs528379574 0.00003
NM_004369.4(COL6A3):c.3861C>T (p.Asn1287=) rs113247852 0.00003
NM_004369.4(COL6A3):c.3862G>A (p.Ala1288Thr) rs761799119 0.00003
NM_004369.4(COL6A3):c.3894G>A (p.Ala1298=) rs777277026 0.00003
NM_004369.4(COL6A3):c.3933C>T (p.Asn1311=) rs763164666 0.00003
NM_004369.4(COL6A3):c.4007T>C (p.Val1336Ala) rs760059705 0.00003
NM_004369.4(COL6A3):c.4197C>A (p.Ser1399Arg) rs755091615 0.00003
NM_004369.4(COL6A3):c.4227G>A (p.Thr1409=) rs142938239 0.00003
NM_004369.4(COL6A3):c.4254G>A (p.Lys1418=) rs528204718 0.00003
NM_004369.4(COL6A3):c.4285+14G>A rs373893821 0.00003
NM_004369.4(COL6A3):c.4293G>A (p.Glu1431=) rs751433682 0.00003
NM_004369.4(COL6A3):c.4309A>T (p.Ile1437Phe) rs144314743 0.00003
NM_004369.4(COL6A3):c.438C>T (p.Ile146=) rs781449958 0.00003
NM_004369.4(COL6A3):c.439G>A (p.Val147Ile) rs536452909 0.00003
NM_004369.4(COL6A3):c.4402A>G (p.Ile1468Val) rs759366102 0.00003
NM_004369.4(COL6A3):c.4697C>T (p.Ser1566Leu) rs752785838 0.00003
NM_004369.4(COL6A3):c.4813A>G (p.Ile1605Val) rs111389165 0.00003
NM_004369.4(COL6A3):c.4866T>A (p.Pro1622=) rs773082911 0.00003
NM_004369.4(COL6A3):c.4964T>C (p.Phe1655Ser) rs747965230 0.00003
NM_004369.4(COL6A3):c.5019C>T (p.Gly1673=) rs140516220 0.00003
NM_004369.4(COL6A3):c.5095A>C (p.Lys1699Gln) rs1311406995 0.00003
NM_004369.4(COL6A3):c.5112C>T (p.Asp1704=) rs759756382 0.00003
NM_004369.4(COL6A3):c.5213G>A (p.Arg1738His) rs774808500 0.00003
NM_004369.4(COL6A3):c.5326G>T (p.Val1776Phe) rs754788931 0.00003
NM_004369.4(COL6A3):c.5349G>A (p.Ser1783=) rs752102793 0.00003
NM_004369.4(COL6A3):c.5575G>A (p.Glu1859Lys) rs886043180 0.00003
NM_004369.4(COL6A3):c.5769C>T (p.Tyr1923=) rs751915461 0.00003
NM_004369.4(COL6A3):c.5822C>T (p.Ser1941Leu) rs778288464 0.00003
NM_004369.4(COL6A3):c.5877G>C (p.Leu1959=) rs752905591 0.00003
NM_004369.4(COL6A3):c.5969G>A (p.Arg1990Gln) rs780489910 0.00003
NM_004369.4(COL6A3):c.6001A>G (p.Met2001Val) rs201539582 0.00003
NM_004369.4(COL6A3):c.6132G>T (p.Gly2044=) rs762950440 0.00003
NM_004369.4(COL6A3):c.6157-17C>T rs199764618 0.00003
NM_004369.4(COL6A3):c.6224C>T (p.Pro2075Leu) rs113331139 0.00003
NM_004369.4(COL6A3):c.624C>T (p.Asp208=) rs757316338 0.00003
NM_004369.4(COL6A3):c.6282+7C>T rs779630783 0.00003
NM_004369.4(COL6A3):c.6451G>C (p.Val2151Leu) rs768565928 0.00003
NM_004369.4(COL6A3):c.6555T>C (p.Asp2185=) rs199869924 0.00003
NM_004369.4(COL6A3):c.6639C>A (p.Gly2213=) rs765837100 0.00003
NM_004369.4(COL6A3):c.6675G>A (p.Gly2225=) rs538533719 0.00003
NM_004369.4(COL6A3):c.6869G>T (p.Arg2290Leu) rs398124131 0.00003
NM_004369.4(COL6A3):c.686C>T (p.Thr229Met) rs141586922 0.00003
NM_004369.4(COL6A3):c.6888C>T (p.Asp2296=) rs762210213 0.00003
NM_004369.4(COL6A3):c.7192G>A (p.Val2398Ile) rs375640580 0.00003
NM_004369.4(COL6A3):c.7356C>T (p.Asn2452=) rs569662223 0.00003
NM_004369.4(COL6A3):c.7402G>A (p.Val2468Ile) rs527516269 0.00003
NM_004369.4(COL6A3):c.7475C>T (p.Ser2492Leu) rs754480145 0.00003
NM_004369.4(COL6A3):c.7608G>A (p.Ala2536=) rs749750613 0.00003
NM_004369.4(COL6A3):c.764G>A (p.Ser255Asn) rs755138368 0.00003
NM_004369.4(COL6A3):c.7660G>A (p.Ala2554Thr) rs786205870 0.00003
NM_004369.4(COL6A3):c.7687G>C (p.Gly2563Arg) rs780964113 0.00003
NM_004369.4(COL6A3):c.774C>T (p.Phe258=) rs766589204 0.00003
NM_004369.4(COL6A3):c.7768A>G (p.Ile2590Val) rs372278071 0.00003
NM_004369.4(COL6A3):c.7870T>G (p.Leu2624Val) rs777305410 0.00003
NM_004369.4(COL6A3):c.7877G>A (p.Ser2626Asn) rs765014790 0.00003
NM_004369.4(COL6A3):c.8008G>A (p.Ala2670Thr) rs398124135 0.00003
NM_004369.4(COL6A3):c.8168T>C (p.Ile2723Thr) rs373108028 0.00003
NM_004369.4(COL6A3):c.8201G>A (p.Arg2734Gln) rs115116398 0.00003
NM_004369.4(COL6A3):c.8359G>A (p.Ala2787Thr) rs763395740 0.00003
NM_004369.4(COL6A3):c.8377G>A (p.Val2793Ile) rs569907876 0.00003
NM_004369.4(COL6A3):c.8464+20G>C rs398124136 0.00003
NM_004369.4(COL6A3):c.8621C>T (p.Thr2874Met) rs779335085 0.00003
NM_004369.4(COL6A3):c.8637G>C (p.Thr2879=) rs1417532835 0.00003
NM_004369.4(COL6A3):c.8660C>T (p.Thr2887Ile) rs765812583 0.00003
NM_004369.4(COL6A3):c.8744C>T (p.Ala2915Val) rs751532649 0.00003
NM_004369.4(COL6A3):c.8794C>T (p.Pro2932Ser) rs992204564 0.00003
NM_004369.4(COL6A3):c.8865C>T (p.Pro2955=) rs199936838 0.00003
NM_004369.4(COL6A3):c.8970G>A (p.Lys2990=) rs113721676 0.00003
NM_004369.4(COL6A3):c.91+16G>A rs747662761 0.00003
NM_004369.4(COL6A3):c.936C>T (p.Leu312=) rs377629176 0.00003
NM_004369.4(COL6A3):c.9486C>T (p.Cys3162=) rs757091142 0.00003
NM_004370.6(COL12A1):c.1186G>A (p.Ala396Thr) rs202175607 0.00003
NM_004370.6(COL12A1):c.1256T>C (p.Met419Thr) rs201085951 0.00003
NM_004370.6(COL12A1):c.1298G>A (p.Arg433His) rs775010013 0.00003
NM_004370.6(COL12A1):c.1737C>T (p.Ala579=) rs780442166 0.00003
NM_004370.6(COL12A1):c.1760T>C (p.Ile587Thr) rs1235556906 0.00003
NM_004370.6(COL12A1):c.2028T>C (p.Thr676=) rs1318149393 0.00003
NM_004370.6(COL12A1):c.2055T>C (p.Ser685=) rs780620827 0.00003
NM_004370.6(COL12A1):c.211A>G (p.Thr71Ala) rs775809424 0.00003
NM_004370.6(COL12A1):c.2141C>T (p.Ala714Val) rs1202850966 0.00003
NM_004370.6(COL12A1):c.2165-8T>C rs909913796 0.00003
NM_004370.6(COL12A1):c.2165T>A (p.Val722Glu) rs199503279 0.00003
NM_004370.6(COL12A1):c.2261G>A (p.Arg754Gln) rs377480187 0.00003
NM_004370.6(COL12A1):c.226A>G (p.Thr76Ala) rs370684538 0.00003
NM_004370.6(COL12A1):c.2374G>A (p.Val792Ile) rs375704787 0.00003
NM_004370.6(COL12A1):c.2519A>G (p.Lys840Arg) rs1357325121 0.00003
NM_004370.6(COL12A1):c.2696G>A (p.Gly899Glu) rs201382636 0.00003
NM_004370.6(COL12A1):c.2713C>T (p.Arg905Cys) rs768127770 0.00003
NM_004370.6(COL12A1):c.3034A>G (p.Met1012Val) rs1188543260 0.00003
NM_004370.6(COL12A1):c.3245C>G (p.Thr1082Arg) rs762817385 0.00003
NM_004370.6(COL12A1):c.3383G>A (p.Arg1128Lys) rs373637483 0.00003
NM_004370.6(COL12A1):c.3566-8C>A rs201709757 0.00003
NM_004370.6(COL12A1):c.3570G>A (p.Met1190Ile) rs536615203 0.00003
NM_004370.6(COL12A1):c.3780G>C (p.Lys1260Asn) rs767422633 0.00003
NM_004370.6(COL12A1):c.3785T>C (p.Leu1262Ser) rs774035582 0.00003
NM_004370.6(COL12A1):c.3818G>C (p.Gly1273Ala) rs377553583 0.00003
NM_004370.6(COL12A1):c.385G>A (p.Glu129Lys) rs978290681 0.00003
NM_004370.6(COL12A1):c.4000+4C>G rs375772555 0.00003
NM_004370.6(COL12A1):c.4196G>A (p.Arg1399His) rs200125060 0.00003
NM_004370.6(COL12A1):c.4223C>T (p.Pro1408Leu) rs773936793 0.00003
NM_004370.6(COL12A1):c.4312A>G (p.Ser1438Gly) rs201651899 0.00003
NM_004370.6(COL12A1):c.4565G>A (p.Arg1522His) rs751419788 0.00003
NM_004370.6(COL12A1):c.4616C>T (p.Thr1539Met) rs373216375 0.00003
NM_004370.6(COL12A1):c.4675G>A (p.Val1559Ile) rs373826197 0.00003
NM_004370.6(COL12A1):c.4781G>A (p.Arg1594His) rs373006852 0.00003
NM_004370.6(COL12A1):c.4918G>A (p.Glu1640Lys) rs780206104 0.00003
NM_004370.6(COL12A1):c.492T>C (p.Ala164=) rs748734386 0.00003
NM_004370.6(COL12A1):c.5381G>A (p.Gly1794Asp) rs548889128 0.00003
NM_004370.6(COL12A1):c.5394+10T>A rs890398079 0.00003
NM_004370.6(COL12A1):c.552C>T (p.Tyr184=) rs372356221 0.00003
NM_004370.6(COL12A1):c.5645C>T (p.Ala1882Val) rs565471668 0.00003
NM_004370.6(COL12A1):c.5746G>A (p.Val1916Ile) rs778672810 0.00003
NM_004370.6(COL12A1):c.5771G>A (p.Arg1924His) rs751986784 0.00003
NM_004370.6(COL12A1):c.5793A>G (p.Thr1931=) rs199632288 0.00003
NM_004370.6(COL12A1):c.5996T>G (p.Leu1999Arg) rs774159573 0.00003
NM_004370.6(COL12A1):c.6141T>C (p.His2047=) rs773648194 0.00003
NM_004370.6(COL12A1):c.6200T>C (p.Ile2067Thr) rs755180015 0.00003
NM_004370.6(COL12A1):c.6332G>A (p.Gly2111Glu) rs771019349 0.00003
NM_004370.6(COL12A1):c.6947-6T>C rs200538799 0.00003
NM_004370.6(COL12A1):c.7048G>T (p.Val2350Leu) rs755159927 0.00003
NM_004370.6(COL12A1):c.7677G>A (p.Ala2559=) rs373585140 0.00003
NM_004370.6(COL12A1):c.7698A>C (p.Ala2566=) rs775579405 0.00003
NM_004370.6(COL12A1):c.7734G>A (p.Thr2578=) rs368616942 0.00003
NM_004370.6(COL12A1):c.7869C>A (p.Asn2623Lys) rs201337277 0.00003
NM_004370.6(COL12A1):c.8390A>G (p.Asn2797Ser) rs766046177 0.00003
NM_004370.6(COL12A1):c.8578-4G>A rs780000164 0.00003
NM_004370.6(COL12A1):c.8649A>C (p.Pro2883=) rs900917198 0.00003
NM_004370.6(COL12A1):c.8655A>C (p.Pro2885=) rs751804493 0.00003
NM_004370.6(COL12A1):c.8686-5A>T rs749754621 0.00003
NM_004370.6(COL12A1):c.8799T>C (p.Asp2933=) rs768543325 0.00003
NM_004370.6(COL12A1):c.9186C>T (p.Ser3062=) rs375094592 0.00003
NM_004393.6(DAG1):c.1181G>A (p.Gly394Asp) rs1318377074 0.00003
NM_004393.6(DAG1):c.1556C>T (p.Pro519Leu) rs761585454 0.00003
NM_004393.6(DAG1):c.1846C>T (p.Pro616Ser) rs372730352 0.00003
NM_004393.6(DAG1):c.1937C>T (p.Thr646Ile) rs745546522 0.00003
NM_004393.6(DAG1):c.1966G>A (p.Val656Met) rs1313375346 0.00003
NM_004393.6(DAG1):c.2023G>A (p.Ala675Thr) rs764063699 0.00003
NM_004393.6(DAG1):c.213G>A (p.Thr71=) rs148703095 0.00003
NM_004393.6(DAG1):c.2451C>G (p.Leu817=) rs886042761 0.00003
NM_004393.6(DAG1):c.2536A>C (p.Thr846Pro) rs775365808 0.00003
NM_004393.6(DAG1):c.2600C>T (p.Pro867Leu) rs199506692 0.00003
NM_004393.6(DAG1):c.2659C>T (p.Arg887Trp) rs148461041 0.00003
NM_004393.6(DAG1):c.2667T>A (p.Pro889=) rs760977919 0.00003
NM_004393.6(DAG1):c.414G>T (p.Leu138=) rs763846062 0.00003
NM_004393.6(DAG1):c.634C>A (p.His212Asn) rs146574353 0.00003
NM_005198.5(CHKB):c.*126C>T rs112742765 0.00003
NM_005198.5(CHKB):c.1006G>A (p.Glu336Lys) rs374337406 0.00003
NM_005198.5(CHKB):c.1008A>T (p.Glu336Asp) rs559736493 0.00003
NM_005198.5(CHKB):c.1113+4A>T rs760858639 0.00003
NM_005198.5(CHKB):c.214T>C (p.Tyr72His) rs747691808 0.00003
NM_005198.5(CHKB):c.279C>T (p.Ser93=) rs376846624 0.00003
NM_005198.5(CHKB):c.365T>C (p.Met122Thr) rs754126452 0.00003
NM_005198.5(CHKB):c.819-9T>C rs368960649 0.00003
NM_005198.5(CHKB):c.927+10C>G rs549171476 0.00003
NM_005198.5(CHKB):c.928-11A>G rs771040904 0.00003
NM_006876.3(B4GAT1):c.1022G>A (p.Arg341His) rs770685607 0.00003
NM_006876.3(B4GAT1):c.156C>T (p.Ser52=) rs767852256 0.00003
NM_006876.3(B4GAT1):c.338T>C (p.Leu113Pro) rs757942327 0.00003
NM_006876.3(B4GAT1):c.951C>T (p.Tyr317=) rs774619108 0.00003
NM_007171.3(POMT1):c.-195C>T rs886063536 0.00003
NM_007171.3(POMT1):c.-196G>T rs886063535 0.00003
NM_013382.7(POMT2):c.*349G>A rs886050822 0.00003
NM_013382.7(POMT2):c.*927G>C rs886050818 0.00003
NM_013382.7(POMT2):c.1006+1G>A rs533916138 0.00003
NM_013382.7(POMT2):c.1094G>A (p.Gly365Asp) rs139830891 0.00003
NM_013382.7(POMT2):c.1121C>G (p.Thr374Ser) rs973161535 0.00003
NM_013382.7(POMT2):c.1135A>G (p.Lys379Glu) rs777172630 0.00003
NM_013382.7(POMT2):c.1290C>T (p.Ala430=) rs886043974 0.00003
NM_013382.7(POMT2):c.1320C>T (p.Thr440=) rs143342682 0.00003
NM_013382.7(POMT2):c.1653+4T>G rs555289061 0.00003
NM_013382.7(POMT2):c.1725+4G>A rs758851815 0.00003
NM_013382.7(POMT2):c.1743G>A (p.Gly581=) rs755254043 0.00003
NM_013382.7(POMT2):c.1927G>C (p.Val643Leu) rs966965226 0.00003
NM_013382.7(POMT2):c.1932G>A (p.Leu644=) rs760608239 0.00003
NM_013382.7(POMT2):c.2040G>A (p.Leu680=) rs951171938 0.00003
NM_013382.7(POMT2):c.2072G>T (p.Gly691Val) rs758678348 0.00003
NM_013382.7(POMT2):c.248+20C>G rs1471456899 0.00003
NM_013382.7(POMT2):c.248+9T>C rs754261430 0.00003
NM_013382.7(POMT2):c.551C>T (p.Thr184Met) rs267606971 0.00003
NM_013382.7(POMT2):c.553G>A (p.Gly185Arg) rs886050826 0.00003
NM_013382.7(POMT2):c.599T>C (p.Met200Thr) rs921045202 0.00003
NM_013382.7(POMT2):c.769A>G (p.Thr257Ala) rs371988132 0.00003
NM_013382.7(POMT2):c.795C>T (p.Phe265=) rs765276419 0.00003
NM_013382.7(POMT2):c.925G>A (p.Gly309Ser) rs376046816 0.00003
NM_016213.5(TRIP4):c.1465C>T (p.Arg489Cys) rs764341782 0.00003
NM_017739.4(POMGNT1):c.*531C>T rs769094628 0.00003
NM_017739.4(POMGNT1):c.1030C>T (p.Pro344Ser) rs755454684 0.00003
NM_017739.4(POMGNT1):c.1230C>G (p.Ile410Met) rs756026992 0.00003
NM_017739.4(POMGNT1):c.1284+8G>A rs761259999 0.00003
NM_017739.4(POMGNT1):c.1453C>T (p.Arg485Cys) rs755588045 0.00003
NM_017739.4(POMGNT1):c.1467G>A (p.Glu489=) rs760759400 0.00003
NM_017739.4(POMGNT1):c.1697T>C (p.Phe566Ser) rs765906814 0.00003
NM_017739.4(POMGNT1):c.1738C>A (p.Arg580=) rs386834018 0.00003
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter) rs386834019 0.00003
NM_017739.4(POMGNT1):c.1783A>G (p.Lys595Glu) rs797045896 0.00003
NM_017739.4(POMGNT1):c.1786-5A>T rs757014219 0.00003
NM_017739.4(POMGNT1):c.1933G>C (p.Glu645Gln) rs778115320 0.00003
NM_017739.4(POMGNT1):c.277A>G (p.Ser93Gly) rs751402236 0.00003
NM_017739.4(POMGNT1):c.287G>C (p.Arg96Pro) rs200227264 0.00003
NM_017739.4(POMGNT1):c.289C>T (p.Arg97Trp) rs564076183 0.00003
NM_017739.4(POMGNT1):c.319C>A (p.Arg107Ser) rs375420073 0.00003
NM_017739.4(POMGNT1):c.421-9C>T rs748122023 0.00003
NM_017739.4(POMGNT1):c.440G>A (p.Arg147His) rs776165339 0.00003
NM_017739.4(POMGNT1):c.444G>A (p.Val148=) rs142016718 0.00003
NM_017739.4(POMGNT1):c.46C>T (p.Arg16Trp) rs34058684 0.00003
NM_017739.4(POMGNT1):c.507C>T (p.Pro169=) rs576860809 0.00003
NM_017739.4(POMGNT1):c.565G>T (p.Ala189Ser) rs949714416 0.00003
NM_017739.4(POMGNT1):c.652+8C>T rs778376741 0.00003
NM_017739.4(POMGNT1):c.653-4C>T rs771765778 0.00003
NM_017739.4(POMGNT1):c.698C>T (p.Ser233Phe) rs569061665 0.00003
NM_017739.4(POMGNT1):c.788G>A (p.Arg263His) rs146078296 0.00003
NM_017739.4(POMGNT1):c.888C>A (p.Asp296Glu) rs369970994 0.00003
NM_020451.3(SELENON):c.1010+1G>A rs908682527 0.00003
NM_020451.3(SELENON):c.1077C>T (p.Ile359=) rs370740923 0.00003
NM_020451.3(SELENON):c.1128C>T (p.Ser376=) rs377230143 0.00003
NM_020451.3(SELENON):c.1158C>G (p.Ile386Met) rs372243527 0.00003
NM_020451.3(SELENON):c.1249C>T (p.Arg417Cys) rs769840172 0.00003
NM_020451.3(SELENON):c.1339G>A (p.Val447Met) rs746942226 0.00003
NM_020451.3(SELENON):c.146G>A (p.Cys49Tyr) rs1023254639 0.00003
NM_020451.3(SELENON):c.1535C>T (p.Ala512Val) rs202167521 0.00003
NM_020451.3(SELENON):c.1592A>G (p.Asn531Ser) rs546041571 0.00003
NM_020451.3(SELENON):c.1704G>A (p.Pro568=) rs754350384 0.00003
NM_020451.3(SELENON):c.183+11G>A rs1015099314 0.00003
NM_020451.3(SELENON):c.545G>A (p.Arg182His) rs200224030 0.00003
NM_020451.3(SELENON):c.618C>T (p.Phe206=) rs772257589 0.00003
NM_020451.3(SELENON):c.747+20G>A rs373649740 0.00003
NM_020451.3(SELENON):c.802C>T (p.Arg268Cys) rs368074297 0.00003
NM_020451.3(SELENON):c.996C>T (p.Phe332=) rs372461186 0.00003
NM_020451.3(SELENON):c.9G>C (p.Arg3=) rs1057521978 0.00003
NM_021971.4(GMPPB):c.198A>C (p.Ala66=) rs889957809 0.00003
NM_021971.4(GMPPB):c.211-7C>T rs201109088 0.00003
NM_021971.4(GMPPB):c.449A>T (p.Glu150Val) rs1185784683 0.00003
NM_021971.4(GMPPB):c.458C>T (p.Thr153Ile) rs202013297 0.00003
NM_021971.4(GMPPB):c.486G>A (p.Lys162=) rs144305518 0.00003
NM_021971.4(GMPPB):c.531C>A (p.Ile177=) rs140427047 0.00003
NM_021971.4(GMPPB):c.573G>A (p.Thr191=) rs775798814 0.00003
NM_021971.4(GMPPB):c.594C>T (p.Phe198=) rs148249248 0.00003
NM_021971.4(GMPPB):c.760G>A (p.Val254Met) rs875989850 0.00003
NM_021971.4(GMPPB):c.769-9C>T rs781777729 0.00003
NM_021971.4(GMPPB):c.786C>T (p.Ile262=) rs201123231 0.00003
NM_021971.4(GMPPB):c.812A>G (p.Asn271Ser) rs370840899 0.00003
NM_021971.4(GMPPB):c.937C>T (p.Arg313Cys) rs144421130 0.00003
NM_024301.5(FKRP):c.1171G>A (p.Gly391Ser) rs775201067 0.00003
NM_024301.5(FKRP):c.1320G>A (p.Glu440=) rs765678360 0.00003
NM_024301.5(FKRP):c.1439A>T (p.Asn480Ile) rs369666163 0.00003
NM_024301.5(FKRP):c.323T>C (p.Leu108Pro) rs936866997 0.00003
NM_024301.5(FKRP):c.435G>A (p.Val145=) rs1422884133 0.00003
NM_024301.5(FKRP):c.43A>C (p.Thr15Pro) rs886042998 0.00003
NM_024301.5(FKRP):c.446G>A (p.Arg149His) rs1449983261 0.00003
NM_024301.5(FKRP):c.524T>C (p.Leu175Pro) rs1318966349 0.00003
NM_024301.5(FKRP):c.68A>G (p.Tyr23Cys) rs201951207 0.00003
NM_024301.5(FKRP):c.757G>T (p.Ala253Ser) rs959679901 0.00003
NM_024301.5(FKRP):c.795G>C (p.Arg265=) rs1364305668 0.00003
NM_024301.5(FKRP):c.797C>T (p.Ala266Val) rs1276654268 0.00003
NM_032237.5(POMK):c.114C>T (p.Leu38=) rs182189714 0.00003
NM_032237.5(POMK):c.129C>T (p.Ile43=) rs761324803 0.00003
NM_032237.5(POMK):c.271G>A (p.Ala91Thr) rs1365587547 0.00003
NM_032237.5(POMK):c.715G>A (p.Gly239Arg) rs35104071 0.00003
NM_032237.5(POMK):c.774A>G (p.Gln258=) rs759091832 0.00003
NM_032806.6(POMGNT2):c.1232_1233del (p.Gln411fs) rs747569790 0.00003
NM_032806.6(POMGNT2):c.1276C>T (p.Leu426=) rs375062544 0.00003
NM_032806.6(POMGNT2):c.1286G>A (p.Arg429His) rs562988051 0.00003
NM_032806.6(POMGNT2):c.1313G>A (p.Arg438Gln) rs371405205 0.00003
NM_032806.6(POMGNT2):c.1389C>T (p.Arg463=) rs756556274 0.00003
NM_032806.6(POMGNT2):c.14C>T (p.Ala5Val) rs554958082 0.00003
NM_032806.6(POMGNT2):c.1514C>G (p.Ser505Cys) rs144799574 0.00003
NM_032806.6(POMGNT2):c.190G>A (p.Gly64Ser) rs548769646 0.00003
NM_032806.6(POMGNT2):c.232A>G (p.Ile78Val) rs377726627 0.00003
NM_032806.6(POMGNT2):c.238C>T (p.Arg80Cys) rs780388475 0.00003
NM_032806.6(POMGNT2):c.243C>G (p.Phe81Leu) rs373382346 0.00003
NM_032806.6(POMGNT2):c.484G>A (p.Asp162Asn) rs201407522 0.00003
NM_032806.6(POMGNT2):c.793C>T (p.Arg265Trp) rs753736893 0.00003
NM_032806.6(POMGNT2):c.81G>A (p.Glu27=) rs201572917 0.00003
NM_032806.6(POMGNT2):c.861G>A (p.Glu287=) rs187003222 0.00003
NM_032806.6(POMGNT2):c.997C>T (p.Arg333Trp) rs749833091 0.00003
NM_133642.5(LARGE1):c.*580C>T rs776235903 0.00003
NM_133642.5(LARGE1):c.*833A>G rs748248240 0.00003
NM_133642.5(LARGE1):c.*969G>A rs892305427 0.00003
NM_133642.5(LARGE1):c.-47C>T rs775356534 0.00003
NM_133642.5(LARGE1):c.1020C>T (p.Ala340=) rs927885509 0.00003
NM_133642.5(LARGE1):c.1098C>G (p.Ser366=) rs770224674 0.00003
NM_133642.5(LARGE1):c.1215G>A (p.Leu405=) rs368009890 0.00003
NM_133642.5(LARGE1):c.1623C>T (p.Tyr541=) rs370896246 0.00003
NM_133642.5(LARGE1):c.1626C>T (p.Pro542=) rs775137166 0.00003
NM_133642.5(LARGE1):c.1677G>A (p.Met559Ile) rs376455063 0.00003
NM_133642.5(LARGE1):c.1704C>T (p.Pro568=) rs768746727 0.00003
NM_133642.5(LARGE1):c.2136C>T (p.Phe712=) rs767177452 0.00003
NM_133642.5(LARGE1):c.2208G>A (p.Gln736=) rs759427879 0.00003
NM_133642.5(LARGE1):c.2226C>T (p.Tyr742=) rs777773303 0.00003
NM_133642.5(LARGE1):c.239G>T (p.Arg80Leu) rs761004017 0.00003
NM_133642.5(LARGE1):c.266G>A (p.Arg89Gln) rs142272515 0.00003
NM_133642.5(LARGE1):c.409-18G>A rs774311766 0.00003
NM_133642.5(LARGE1):c.417C>T (p.His139=) rs115575249 0.00003
NM_133642.5(LARGE1):c.491+11C>G rs781066281 0.00003
NM_133642.5(LARGE1):c.551C>T (p.Thr184Met) rs138676820 0.00003
NM_133642.5(LARGE1):c.607G>A (p.Glu203Lys) rs776803926 0.00003
NM_133642.5(LARGE1):c.63C>A (p.Ile21=) rs759218415 0.00003
NM_133642.5(LARGE1):c.923G>A (p.Arg308Gln) rs773959791 0.00003
NM_133642.5(LARGE1):c.957C>T (p.Thr319=) rs778094231 0.00003
NM_152490.5(B3GALNT2):c.1116A>G (p.Gln372=) rs777198285 0.00003
NM_152490.5(B3GALNT2):c.1433C>T (p.Pro478Leu) rs373773440 0.00003
NM_152490.5(B3GALNT2):c.261-11A>G rs768326815 0.00003
NM_152490.5(B3GALNT2):c.537T>C (p.Leu179=) rs775836647 0.00003
NM_152490.5(B3GALNT2):c.978C>T (p.Val326=) rs368371048 0.00003
NM_152490.5(B3GALNT2):c.97G>A (p.Gly33Arg) rs1006228968 0.00003
NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn) rs370656306 0.00003
NM_170707.4(LMNA):c.1007G>A (p.Arg336Gln) rs58105277 0.00003
NM_170707.4(LMNA):c.1028G>A (p.Arg343Gln) rs61177390 0.00003
NM_170707.4(LMNA):c.1227A>G (p.Thr409=) rs762130433 0.00003
NM_170707.4(LMNA):c.1256G>A (p.Arg419His) rs777648901 0.00003
NM_170707.4(LMNA):c.1324G>A (p.Val442Met) rs368542816 0.00003
NM_170707.4(LMNA):c.1380+18G>A rs777846700 0.00003
NM_170707.4(LMNA):c.1381-13A>G rs750192865 0.00003
NM_170707.4(LMNA):c.1517A>C (p.His506Pro) rs878855233 0.00003
NM_170707.4(LMNA):c.1756G>A (p.Val586Met) rs758048062 0.00003
NM_170707.4(LMNA):c.937-8C>A rs751707982 0.00003
NM_173660.5(DOK7):c.1000A>G (p.Ser334Gly) rs769643041 0.00003
NM_173660.5(DOK7):c.1065C>T (p.Tyr355=) rs200284964 0.00003
NM_173660.5(DOK7):c.1083C>T (p.Asp361=) rs554026540 0.00003
NM_173660.5(DOK7):c.1141C>T (p.Pro381Ser) rs574663125 0.00003
NM_173660.5(DOK7):c.1262C>A (p.Pro421His) rs373261147 0.00003
NM_173660.5(DOK7):c.1294A>G (p.Arg432Gly) rs1390831169 0.00003
NM_173660.5(DOK7):c.1451C>T (p.Pro484Leu) rs1057518522 0.00003
NM_173660.5(DOK7):c.1477C>G (p.Pro493Ala) rs748438470 0.00003
NM_173660.5(DOK7):c.1496A>G (p.Lys499Arg) rs865879271 0.00003
NM_173660.5(DOK7):c.1511_1513del (p.Pro504_Ter505delinsArg) rs762345055 0.00003
NM_173660.5(DOK7):c.332-6C>G rs1482072459 0.00003
NM_173660.5(DOK7):c.36G>T (p.Lys12Asn) rs368106071 0.00003
NM_173660.5(DOK7):c.437C>T (p.Pro146Leu) rs770987150 0.00003
NM_173660.5(DOK7):c.486C>T (p.Ala162=) rs371609452 0.00003
NM_173660.5(DOK7):c.522G>C (p.Arg174Ser) rs762376200 0.00003
NM_173660.5(DOK7):c.54+3C>T rs1560200971 0.00003
NM_173660.5(DOK7):c.55-16C>T rs976572936 0.00003
NM_173660.5(DOK7):c.564G>A (p.Glu188=) rs375631042 0.00003
NM_173660.5(DOK7):c.611C>A (p.Ser204Tyr) rs1219693310 0.00003
NM_173660.5(DOK7):c.638G>A (p.Arg213Gln) rs371408752 0.00003
NM_173660.5(DOK7):c.674C>T (p.Ser225Leu) rs769699131 0.00003
NM_173660.5(DOK7):c.757A>G (p.Arg253Gly) rs370967580 0.00003
NM_173660.5(DOK7):c.773-18C>T rs749706359 0.00003
NM_173660.5(DOK7):c.828C>T (p.Ser276=) rs772682276 0.00003
NM_173660.5(DOK7):c.857A>G (p.Glu286Gly) rs754105518 0.00003
NM_173660.5(DOK7):c.864C>G (p.Ser288=) rs554816775 0.00003
NM_173660.5(DOK7):c.94G>A (p.Val32Met) rs1417673287 0.00003
NM_173660.5(DOK7):c.983A>C (p.Gln328Pro) rs752168445 0.00003
NM_173660.5(DOK7):c.994C>T (p.Arg332Cys) rs200394790 0.00003
NM_000426.4(LAMA2):c.1495C>T (p.Arg499Cys) rs143626559 0.00002
NM_000426.4(LAMA2):c.250C>T (p.Arg84Ter) rs868019991 0.00002
NM_000426.4(LAMA2):c.283+1G>A rs200288072 0.00002
NM_000426.4(LAMA2):c.3215del (p.Cys1072fs) rs886041297 0.00002
NM_000426.4(LAMA2):c.3279C>T (p.Cys1093=) rs371376404 0.00002
NM_000426.4(LAMA2):c.4176+1G>A rs1404492484 0.00002
NM_000426.4(LAMA2):c.4188G>A (p.Pro1396=) rs369076029 0.00002
NM_000426.4(LAMA2):c.4876C>T (p.Gln1626Ter) rs369776766 0.00002
NM_000426.4(LAMA2):c.5116C>T (p.Arg1706Ter) rs758775001 0.00002
NM_000426.4(LAMA2):c.5562+5G>C rs771046502 0.00002
NM_000426.4(LAMA2):c.5593C>T (p.Pro1865Ser) rs563638833 0.00002
NM_000426.4(LAMA2):c.6429+1G>T rs1262029350 0.00002
NM_000426.4(LAMA2):c.6786G>A (p.Ser2262=) rs398123382 0.00002
NM_000426.4(LAMA2):c.7231G>A (p.Val2411Ile) rs199814707 0.00002
NM_000426.4(LAMA2):c.7377dup (p.Leu2460fs) rs749566145 0.00002
NM_000426.4(LAMA2):c.7630A>G (p.Ile2544Val) rs147430700 0.00002
NM_000426.4(LAMA2):c.7658del (p.Ser2553fs) rs1293303410 0.00002
NM_000426.4(LAMA2):c.848T>C (p.Val283Ala) rs376917587 0.00002
NM_000426.4(LAMA2):c.9014C>T (p.Ala3005Val) rs75048006 0.00002
NM_000540.3(RYR1):c.844C>T (p.Arg282Trp) rs1057518970 0.00002
NM_001077365.2(POMT1):c.*64T>A rs892418533 0.00002
NM_001077365.2(POMT1):c.*693C>T rs886063541 0.00002
NM_001077365.2(POMT1):c.1109C>T (p.Pro370Leu) rs376258733 0.00002
NM_001077365.2(POMT1):c.1127G>A (p.Gly376Glu) rs761293717 0.00002
NM_001077365.2(POMT1):c.1176-17C>T rs748114656 0.00002
NM_001077365.2(POMT1):c.1196del (p.Leu399fs) rs768144522 0.00002
NM_001077365.2(POMT1):c.123-20G>T rs746071589 0.00002
NM_001077365.2(POMT1):c.1272+17C>T rs544783137 0.00002
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp) rs398124244 0.00002
NM_001077365.2(POMT1):c.1330C>T (p.Arg444Cys) rs752384050 0.00002
NM_001077365.2(POMT1):c.141T>C (p.Tyr47=) rs752941420 0.00002
NM_001077365.2(POMT1):c.1432C>T (p.Arg478Trp) rs763756593 0.00002
NM_001077365.2(POMT1):c.1510C>T (p.Arg504Trp) rs151183697 0.00002
NM_001077365.2(POMT1):c.1627T>C (p.Tyr543His) rs1192384406 0.00002
NM_001077365.2(POMT1):c.1698+1G>A rs763586263 0.00002
NM_001077365.2(POMT1):c.1698+6C>T rs180847856 0.00002
NM_001077365.2(POMT1):c.1699-19A>G rs761855332 0.00002
NM_001077365.2(POMT1):c.1729A>G (p.Ile577Val) rs749978093 0.00002
NM_001077365.2(POMT1):c.1739C>T (p.Ser580Leu) rs755804404 0.00002
NM_001077365.2(POMT1):c.1763A>G (p.Tyr588Cys) rs772131719 0.00002
NM_001077365.2(POMT1):c.1826-16G>A rs781195768 0.00002
NM_001077365.2(POMT1):c.1828G>A (p.Ala610Thr) rs773190071 0.00002
NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg) rs119462983 0.00002
NM_001077365.2(POMT1):c.2027T>C (p.Phe676Ser) rs1201402718 0.00002
NM_001077365.2(POMT1):c.2064C>T (p.Cys688=) rs1335756801 0.00002
NM_001077365.2(POMT1):c.2084G>A (p.Arg695His) rs373402995 0.00002
NM_001077365.2(POMT1):c.2098G>A (p.Gly700Arg) rs912556508 0.00002
NM_001077365.2(POMT1):c.2114C>T (p.Ser705Leu) rs747343582 0.00002
NM_001077365.2(POMT1):c.247G>A (p.Asp83Asn) rs530211718 0.00002
NM_001077365.2(POMT1):c.36G>A (p.Thr12=) rs201262353 0.00002
NM_001077365.2(POMT1):c.401T>C (p.Met134Thr) rs780170650 0.00002
NM_001077365.2(POMT1):c.408T>G (p.Ala136=) rs748757994 0.00002
NM_001077365.2(POMT1):c.414del (p.Leu138_Leu139insTer) rs746696167 0.00002
NM_001077365.2(POMT1):c.559T>C (p.Trp187Arg) rs919881583 0.00002
NM_001077365.2(POMT1):c.640G>A (p.Val214Met) rs778740383 0.00002
NM_001077365.2(POMT1):c.699+14T>A rs370038491 0.00002
NM_001077365.2(POMT1):c.699+27G>A rs374516244 0.00002
NM_001077365.2(POMT1):c.817G>A (p.Asp273Asn) rs754611085 0.00002
NM_001079802.2(FKTN):c.*2464G>A rs1054760144 0.00002
NM_001079802.2(FKTN):c.*3352C>A rs143805719 0.00002
NM_001079802.2(FKTN):c.-39G>A rs1284252327 0.00002
NM_001079802.2(FKTN):c.1046T>C (p.Val349Ala) rs539089647 0.00002
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998 0.00002
NM_001079802.2(FKTN):c.1230T>C (p.His410=) rs189927779 0.00002
NM_001079802.2(FKTN):c.1312C>T (p.Arg438Cys) rs150852885 0.00002
NM_001079802.2(FKTN):c.1325A>G (p.Asn442Ser) rs1429464723 0.00002
NM_001079802.2(FKTN):c.1333C>G (p.Pro445Ala) rs781465422 0.00002
NM_001079802.2(FKTN):c.14A>G (p.Asn5Ser) rs751473818 0.00002
NM_001079802.2(FKTN):c.188T>C (p.Met63Thr) rs772840681 0.00002
NM_001079802.2(FKTN):c.30G>A (p.Leu10=) rs202047149 0.00002
NM_001079802.2(FKTN):c.342A>G (p.Ala114=) rs368598407 0.00002
NM_001079802.2(FKTN):c.575A>G (p.Lys192Arg) rs763737649 0.00002
NM_001079802.2(FKTN):c.63G>C (p.Leu21=) rs766642997 0.00002
NM_001079802.2(FKTN):c.733T>A (p.Ser245Thr) rs776945221 0.00002
NM_001079802.2(FKTN):c.787C>G (p.Leu263Val) rs770440134 0.00002
NM_001079802.2(FKTN):c.911-17T>A rs201625324 0.00002
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814 0.00002
NM_001101426.4(CRPPA):c.1120-19T>A rs773390529 0.00002
NM_001101426.4(CRPPA):c.161G>T (p.Gly54Val) rs587777797 0.00002
NM_001101426.4(CRPPA):c.171G>A (p.Gly57=) rs1032859096 0.00002
NM_001101426.4(CRPPA):c.221G>C (p.Arg74Thr) rs1292380177 0.00002
NM_001101426.4(CRPPA):c.402A>G (p.Leu134=) rs368815582 0.00002
NM_001101426.4(CRPPA):c.52C>T (p.Leu18=) rs886043287 0.00002
NM_001101426.4(CRPPA):c.594C>T (p.Cys198=) rs756333932 0.00002
NM_001101426.4(CRPPA):c.661G>A (p.Val221Met) rs749732549 0.00002
NM_001101426.4(CRPPA):c.789+13A>C rs773343225 0.00002
NM_001101426.4(CRPPA):c.825G>A (p.Ser275=) rs766874330 0.00002
NM_001848.3(COL6A1):c.1002+15A>T rs762495019 0.00002
NM_001848.3(COL6A1):c.1005G>T (p.Gly335=) rs765321809 0.00002
NM_001848.3(COL6A1):c.102C>T (p.Cys34=) rs373972331 0.00002
NM_001848.3(COL6A1):c.1060A>T (p.Ile354Phe) rs1179596064 0.00002
NM_001848.3(COL6A1):c.1118A>T (p.Lys373Met) rs1404246917 0.00002
NM_001848.3(COL6A1):c.1227G>A (p.Ala409=) rs557250335 0.00002
NM_001848.3(COL6A1):c.1459G>A (p.Glu487Lys) rs779320527 0.00002
NM_001848.3(COL6A1):c.1489G>A (p.Gly497Arg) rs202109302 0.00002
NM_001848.3(COL6A1):c.1611+9G>A rs186975997 0.00002
NM_001848.3(COL6A1):c.1617G>A (p.Thr539=) rs753448235 0.00002
NM_001848.3(COL6A1):c.1668A>G (p.Gly556=) rs746081979 0.00002
NM_001848.3(COL6A1):c.1745C>T (p.Pro582Leu) rs766478019 0.00002
NM_001848.3(COL6A1):c.1814-18T>C rs530360168 0.00002
NM_001848.3(COL6A1):c.1823-9C>T rs398123633 0.00002
NM_001848.3(COL6A1):c.1911C>T (p.Phe637=) rs552239546 0.00002
NM_001848.3(COL6A1):c.1915G>A (p.Val639Ile) rs564072783 0.00002
NM_001848.3(COL6A1):c.1941G>A (p.Arg647=) rs139914666 0.00002
NM_001848.3(COL6A1):c.1944C>T (p.Asp648=) rs567731019 0.00002
NM_001848.3(COL6A1):c.1974G>A (p.Ser658=) rs568596125 0.00002
NM_001848.3(COL6A1):c.1982G>A (p.Gly661Asp) rs771702139 0.00002
NM_001848.3(COL6A1):c.2034C>T (p.Ser678=) rs750801808 0.00002
NM_001848.3(COL6A1):c.2062A>C (p.Lys688Gln) rs774361880 0.00002
NM_001848.3(COL6A1):c.2259C>T (p.Ser753=) rs769069690 0.00002
NM_001848.3(COL6A1):c.2274C>T (p.Asp758=) rs150780079 0.00002
NM_001848.3(COL6A1):c.228-18C>T rs200537886 0.00002
NM_001848.3(COL6A1):c.2347C>T (p.Arg783Trp) rs779362329 0.00002
NM_001848.3(COL6A1):c.2394G>C (p.Glu798Asp) rs767361934 0.00002
NM_001848.3(COL6A1):c.2419G>A (p.Ala807Thr) rs143925936 0.00002
NM_001848.3(COL6A1):c.2464+12G>A rs757572847 0.00002
NM_001848.3(COL6A1):c.2465T>G (p.Ile822Ser) rs780264446 0.00002
NM_001848.3(COL6A1):c.2507G>A (p.Gly836Asp) rs794727582 0.00002
NM_001848.3(COL6A1):c.2569G>A (p.Glu857Lys) rs570688674 0.00002
NM_001848.3(COL6A1):c.2585C>T (p.Ala862Val) rs766944483 0.00002
NM_001848.3(COL6A1):c.2712C>T (p.Val904=) rs780582491 0.00002
NM_001848.3(COL6A1):c.2713G>A (p.Asp905Asn) rs149331149 0.00002
NM_001848.3(COL6A1):c.2751C>T (p.Asn917=) rs767760988 0.00002
NM_001848.3(COL6A1):c.2797G>A (p.Gly933Ser) rs201835072 0.00002
NM_001848.3(COL6A1):c.2803G>A (p.Ala935Thr) rs766416007 0.00002
NM_001848.3(COL6A1):c.2832T>C (p.Asp944=) rs779665693 0.00002
NM_001848.3(COL6A1):c.2890C>T (p.Arg964Trp) rs375007666 0.00002
NM_001848.3(COL6A1):c.2901C>T (p.Ile967=) rs746750216 0.00002
NM_001848.3(COL6A1):c.2920G>A (p.Val974Met) rs751999785 0.00002
NM_001848.3(COL6A1):c.2926C>T (p.Arg976Cys) rs376061269 0.00002
NM_001848.3(COL6A1):c.2947A>G (p.Ile983Val) rs758399765 0.00002
NM_001848.3(COL6A1):c.2952C>T (p.Arg984=) rs770653887 0.00002
NM_001848.3(COL6A1):c.2953G>A (p.Val985Ile) rs781394145 0.00002
NM_001848.3(COL6A1):c.2963C>G (p.Thr988Ser) rs746046225 0.00002
NM_001848.3(COL6A1):c.2964C>T (p.Thr988=) rs769881364 0.00002
NM_001848.3(COL6A1):c.2986G>A (p.Val996Met) rs764765574 0.00002
NM_001848.3(COL6A1):c.3041G>A (p.Arg1014His) rs369764291 0.00002
NM_001848.3(COL6A1):c.312G>A (p.Thr104=) rs1364102125 0.00002
NM_001848.3(COL6A1):c.325G>A (p.Gly109Ser) rs368580280 0.00002
NM_001848.3(COL6A1):c.331G>A (p.Asp111Asn) rs1309822720 0.00002
NM_001848.3(COL6A1):c.352G>A (p.Asp118Asn) rs747665716 0.00002
NM_001848.3(COL6A1):c.554A>G (p.Lys185Arg) rs754667407 0.00002
NM_001848.3(COL6A1):c.556G>C (p.Val186Leu) rs886042409 0.00002
NM_001848.3(COL6A1):c.57G>A (p.Ala19=) rs1172820789 0.00002
NM_001848.3(COL6A1):c.588+14C>A rs983091594 0.00002
NM_001848.3(COL6A1):c.607A>G (p.Ile203Val) rs886044481 0.00002
NM_001848.3(COL6A1):c.623C>T (p.Thr208Met) rs372199631 0.00002
NM_001848.3(COL6A1):c.628C>T (p.Arg210Trp) rs950115468 0.00002
NM_001848.3(COL6A1):c.717C>T (p.Ile239=) rs775349013 0.00002
NM_001848.3(COL6A1):c.74C>A (p.Thr25Asn) rs767205402 0.00002
NM_001848.3(COL6A1):c.759+11C>T rs746763159 0.00002
NM_001848.3(COL6A1):c.794C>T (p.Pro265Leu) rs757230924 0.00002
NM_001848.3(COL6A1):c.821C>T (p.Pro274Leu) rs201093313 0.00002
NM_001848.3(COL6A1):c.931-4G>A rs758332867 0.00002
NM_001848.3(COL6A1):c.958-9G>A rs375638855 0.00002
NM_001849.4(COL6A2):c.1000-6C>T rs761428568 0.00002
NM_001849.4(COL6A2):c.1011G>A (p.Gly337=) rs760596115 0.00002
NM_001849.4(COL6A2):c.1051C>T (p.Arg351Trp) rs531146637 0.00002
NM_001849.4(COL6A2):c.1053+10G>A rs377311004 0.00002
NM_001849.4(COL6A2):c.1117-14G>A rs768473305 0.00002
NM_001849.4(COL6A2):c.1118G>C (p.Gly373Ala) rs773528946 0.00002
NM_001849.4(COL6A2):c.115+20G>A rs767925731 0.00002
NM_001849.4(COL6A2):c.115+2T>C rs770842374 0.00002
NM_001849.4(COL6A2):c.1236C>T (p.Gly412=) rs752255976 0.00002
NM_001849.4(COL6A2):c.123C>T (p.Thr41=) rs766840536 0.00002
NM_001849.4(COL6A2):c.1264G>A (p.Glu422Lys) rs200167715 0.00002
NM_001849.4(COL6A2):c.1270-16C>T rs548690364 0.00002
NM_001849.4(COL6A2):c.1270-3C>T rs1488223613 0.00002
NM_001849.4(COL6A2):c.1274G>A (p.Arg425His) rs773161640 0.00002
NM_001849.4(COL6A2):c.1496G>A (p.Gly499Glu) rs886042332 0.00002
NM_001849.4(COL6A2):c.1518C>T (p.Pro506=) rs767192013 0.00002
NM_001849.4(COL6A2):c.161C>T (p.Ser54Leu) rs1252515693 0.00002
NM_001849.4(COL6A2):c.1666G>A (p.Glu556Lys) rs368878639 0.00002
NM_001849.4(COL6A2):c.168C>T (p.Ser56=) rs749106470 0.00002
NM_001849.4(COL6A2):c.1732G>A (p.Glu578Lys) rs771658013 0.00002
NM_001849.4(COL6A2):c.1776T>C (p.Cys592=) rs748153892 0.00002
NM_001849.4(COL6A2):c.1807G>A (p.Gly603Arg) rs757603350 0.00002
NM_001849.4(COL6A2):c.181T>C (p.Ser61Pro) rs990733473 0.00002
NM_001849.4(COL6A2):c.1828C>T (p.Arg610Cys) rs748283415 0.00002
NM_001849.4(COL6A2):c.1920C>T (p.Asn640=) rs143819480 0.00002
NM_001849.4(COL6A2):c.1937G>A (p.Gly646Asp) rs752366811 0.00002
NM_001849.4(COL6A2):c.1945G>A (p.Ala649Thr) rs142002945 0.00002
NM_001849.4(COL6A2):c.2054C>T (p.Ser685Leu) rs564873527 0.00002
NM_001849.4(COL6A2):c.2055G>A (p.Ser685=) rs752648726 0.00002
NM_001849.4(COL6A2):c.2217C>T (p.Asp739=) rs374795477 0.00002
NM_001849.4(COL6A2):c.2248C>T (p.Arg750Cys) rs200709432 0.00002
NM_001849.4(COL6A2):c.2250C>T (p.Arg750=) rs200096552 0.00002
NM_001849.4(COL6A2):c.2253C>T (p.Asp751=) rs747494120 0.00002
NM_001849.4(COL6A2):c.2271C>T (p.Ile757=) rs771683876 0.00002
NM_001849.4(COL6A2):c.229T>C (p.Phe77Leu) rs199736749 0.00002
NM_001849.4(COL6A2):c.2326G>A (p.Ala776Thr) rs759293889 0.00002
NM_001849.4(COL6A2):c.2349G>A (p.Val783=) rs886044418 0.00002
NM_001849.4(COL6A2):c.2409C>T (p.Asp803=) rs745800327 0.00002
NM_001849.4(COL6A2):c.2420C>T (p.Pro807Leu) rs768417049 0.00002
NM_001849.4(COL6A2):c.2698G>A (p.Ala900Thr) rs768339045 0.00002
NM_001849.4(COL6A2):c.273G>A (p.Ala91=) rs753168760 0.00002
NM_001849.4(COL6A2):c.2749G>A (p.Val917Met) rs145381639 0.00002
NM_001849.4(COL6A2):c.2780C>G (p.Ala927Gly) rs11554668 0.00002
NM_001849.4(COL6A2):c.2788C>T (p.Arg930Cys) rs886057168 0.00002
NM_001849.4(COL6A2):c.2789G>A (p.Arg930His) rs762812372 0.00002
NM_001849.4(COL6A2):c.2828C>G (p.Ser943Cys) rs372022187 0.00002
NM_001849.4(COL6A2):c.2884C>G (p.His962Asp) rs373184224 0.00002
NM_001849.4(COL6A2):c.2892G>A (p.Met964Ile) rs747174626 0.00002
NM_001849.4(COL6A2):c.2950G>A (p.Val984Met) rs752700701 0.00002
NM_001849.4(COL6A2):c.2977C>T (p.Arg993Cys) rs532656197 0.00002
NM_001849.4(COL6A2):c.3047G>A (p.Arg1016His) rs376368468 0.00002
NM_001849.4(COL6A2):c.436C>T (p.Arg146Trp) rs762263982 0.00002
NM_001849.4(COL6A2):c.460G>A (p.Val154Ile) rs751410120 0.00002
NM_001849.4(COL6A2):c.487G>A (p.Gly163Ser) rs769456044 0.00002
NM_001849.4(COL6A2):c.557G>A (p.Arg186Gln) rs376291264 0.00002
NM_001849.4(COL6A2):c.735+10G>A rs748325597 0.00002
NM_001849.4(COL6A2):c.790C>T (p.Arg264Cys) rs760263812 0.00002
NM_001849.4(COL6A2):c.817A>T (p.Met273Leu) rs763922121 0.00002
NM_001849.4(COL6A2):c.827C>T (p.Pro276Leu) rs757488307 0.00002
NM_001849.4(COL6A2):c.900+13G>A rs767295307 0.00002
NM_001849.4(COL6A2):c.928-10T>A rs747608945 0.00002
NM_001849.4(COL6A2):c.93C>T (p.Thr31=) rs953778915 0.00002
NM_001849.4(COL6A2):c.94G>A (p.Glu32Lys) rs547648292 0.00002
NM_001849.4(COL6A2):c.954+5G>C rs750755566 0.00002
NM_002206.3(ITGA7):c.104A>G (p.Asn35Ser) rs765097884 0.00002
NM_002206.3(ITGA7):c.1071G>A (p.Val357=) rs776709976 0.00002
NM_002206.3(ITGA7):c.1072dup (p.Tyr358fs) rs750756707 0.00002
NM_002206.3(ITGA7):c.1156G>A (p.Ala386Thr) rs776050440 0.00002
NM_002206.3(ITGA7):c.1191A>T (p.Pro397=) rs374034223 0.00002
NM_002206.3(ITGA7):c.1259G>T (p.Gly420Val) rs1873029562 0.00002
NM_002206.3(ITGA7):c.1304G>C (p.Gly435Ala) rs567048373 0.00002
NM_002206.3(ITGA7):c.1360T>G (p.Tyr454Asp) rs754388088 0.00002
NM_002206.3(ITGA7):c.1387G>A (p.Ala463Thr) rs150443803 0.00002
NM_002206.3(ITGA7):c.1409+9C>T rs758349561 0.00002
NM_002206.3(ITGA7):c.1410-7A>G rs760699968 0.00002
NM_002206.3(ITGA7):c.1506-5C>T rs201774458 0.00002
NM_002206.3(ITGA7):c.1579G>C (p.Val527Leu) rs748602754 0.00002
NM_002206.3(ITGA7):c.1673C>T (p.Ser558Leu) rs548594784 0.00002
NM_002206.3(ITGA7):c.1705C>T (p.Arg569Ter) rs201217202 0.00002
NM_002206.3(ITGA7):c.179G>A (p.Arg60Gln) rs750920890 0.00002
NM_002206.3(ITGA7):c.1879C>T (p.Arg627Trp) rs760006172 0.00002
NM_002206.3(ITGA7):c.1982C>T (p.Thr661Met) rs749679578 0.00002
NM_002206.3(ITGA7):c.1994C>T (p.Pro665Leu) rs544984385 0.00002
NM_002206.3(ITGA7):c.2195C>T (p.Ala732Val) rs368879643 0.00002
NM_002206.3(ITGA7):c.2270G>A (p.Gly757Asp) rs968147262 0.00002
NM_002206.3(ITGA7):c.2357+11C>T rs769994283 0.00002
NM_002206.3(ITGA7):c.2452C>T (p.Leu818Phe) rs137872276 0.00002
NM_002206.3(ITGA7):c.2635A>G (p.Met879Val) rs755837295 0.00002
NM_002206.3(ITGA7):c.2643T>G (p.Val881=) rs912015320 0.00002
NM_002206.3(ITGA7):c.2690C>T (p.Pro897Leu) rs1305196493 0.00002
NM_002206.3(ITGA7):c.2722A>G (p.Ser908Gly) rs771994045 0.00002
NM_002206.3(ITGA7):c.2740C>T (p.Arg914Trp) rs754109651 0.00002
NM_002206.3(ITGA7):c.2814C>T (p.Ser938=) rs944546606 0.00002
NM_002206.3(ITGA7):c.2850C>T (p.Cys950=) rs374984482 0.00002
NM_002206.3(ITGA7):c.2855G>A (p.Arg952Gln) rs753351732 0.00002
NM_002206.3(ITGA7):c.2893T>C (p.Tyr965His) rs371338576 0.00002
NM_002206.3(ITGA7):c.2910G>A (p.Ala970=) rs747407695 0.00002
NM_002206.3(ITGA7):c.3041G>A (p.Arg1014Gln) rs779843497 0.00002
NM_002206.3(ITGA7):c.3057+15T>C rs761881364 0.00002
NM_002206.3(ITGA7):c.3222C>T (p.Thr1074=) rs768717588 0.00002
NM_002206.3(ITGA7):c.3254G>A (p.Arg1085Gln) rs757690460 0.00002
NM_002206.3(ITGA7):c.3321C>A (p.Pro1107=) rs543528251 0.00002
NM_002206.3(ITGA7):c.3335C>T (p.Pro1112Leu) rs146183145 0.00002
NM_002206.3(ITGA7):c.3364G>A (p.Gly1122Arg) rs750258372 0.00002
NM_002206.3(ITGA7):c.445C>T (p.Arg149Ter) rs757680080 0.00002
NM_002206.3(ITGA7):c.507C>T (p.Asp169=) rs747196893 0.00002
NM_002206.3(ITGA7):c.518G>A (p.Arg173Gln) rs144639829 0.00002
NM_002206.3(ITGA7):c.530A>G (p.Asp177Gly) rs1299893092 0.00002
NM_002206.3(ITGA7):c.564C>T (p.Pro188=) rs763955304 0.00002
NM_002206.3(ITGA7):c.571C>T (p.His191Tyr) rs984817118 0.00002
NM_002206.3(ITGA7):c.5C>T (p.Ala2Val) rs867336411 0.00002
NM_002206.3(ITGA7):c.791-10C>A rs766782086 0.00002
NM_002206.3(ITGA7):c.911G>A (p.Arg304His) rs768455364 0.00002
NM_002206.3(ITGA7):c.922G>A (p.Glu308Lys) rs746101495 0.00002
NM_003863.4(DPM2):c.3+6A>G rs776375979 0.00002
NM_004369.4(COL6A3):c.1069C>A (p.Pro357Thr) rs1174559820 0.00002
NM_004369.4(COL6A3):c.1092C>T (p.Tyr364=) rs548519047 0.00002
NM_004369.4(COL6A3):c.1216C>T (p.Arg406Cys) rs112817175 0.00002
NM_004369.4(COL6A3):c.1293G>A (p.Pro431=) rs376912950 0.00002
NM_004369.4(COL6A3):c.1394G>A (p.Arg465Gln) rs781231935 0.00002
NM_004369.4(COL6A3):c.1530C>T (p.Thr510=) rs373281009 0.00002
NM_004369.4(COL6A3):c.1571A>G (p.Tyr524Cys) rs147546808 0.00002
NM_004369.4(COL6A3):c.1575G>A (p.Thr525=) rs749452623 0.00002
NM_004369.4(COL6A3):c.1594G>A (p.Val532Ile) rs757748748 0.00002
NM_004369.4(COL6A3):c.1597C>T (p.Arg533Cys) rs751952844 0.00002
NM_004369.4(COL6A3):c.1605C>T (p.Asn535=) rs763426415 0.00002
NM_004369.4(COL6A3):c.1857C>T (p.Gly619=) rs776665419 0.00002
NM_004369.4(COL6A3):c.1897+11G>A rs780688368 0.00002
NM_004369.4(COL6A3):c.1897+3A>G rs369549597 0.00002
NM_004369.4(COL6A3):c.1920C>A (p.Ile640=) rs988504831 0.00002
NM_004369.4(COL6A3):c.2059C>T (p.Pro687Ser) rs750291186 0.00002
NM_004369.4(COL6A3):c.2189A>G (p.His730Arg) rs760976593 0.00002
NM_004369.4(COL6A3):c.2196G>A (p.Thr732=) rs768242367 0.00002
NM_004369.4(COL6A3):c.2343G>A (p.Ala781=) rs561804945 0.00002
NM_004369.4(COL6A3):c.2350G>A (p.Ala784Thr) rs765006452 0.00002
NM_004369.4(COL6A3):c.237T>C (p.Ala79=) rs747312241 0.00002
NM_004369.4(COL6A3):c.267C>T (p.Thr89=) rs757243408 0.00002
NM_004369.4(COL6A3):c.2756C>T (p.Ala919Val) rs115327470 0.00002
NM_004369.4(COL6A3):c.2757G>A (p.Ala919=) rs115874872 0.00002
NM_004369.4(COL6A3):c.2804G>A (p.Arg935Gln) rs762016120 0.00002
NM_004369.4(COL6A3):c.2902G>A (p.Val968Ile) rs202122047 0.00002
NM_004369.4(COL6A3):c.2907G>A (p.Val969=) rs772894785 0.00002
NM_004369.4(COL6A3):c.2958C>T (p.Ile986=) rs145203676 0.00002
NM_004369.4(COL6A3):c.2965T>C (p.Ser989Pro) rs758482171 0.00002
NM_004369.4(COL6A3):c.3001A>G (p.Lys1001Glu) rs977976932 0.00002
NM_004369.4(COL6A3):c.3187G>A (p.Asp1063Asn) rs760543147 0.00002
NM_004369.4(COL6A3):c.3219C>T (p.Ser1073=) rs747436841 0.00002
NM_004369.4(COL6A3):c.3228C>G (p.Thr1076=) rs886042997 0.00002
NM_004369.4(COL6A3):c.3274G>A (p.Val1092Ile) rs576798969 0.00002
NM_004369.4(COL6A3):c.3588C>T (p.Thr1196=) rs1434102843 0.00002
NM_004369.4(COL6A3):c.3627C>A (p.Thr1209=) rs1230310524 0.00002
NM_004369.4(COL6A3):c.3699C>T (p.Asp1233=) rs542411896 0.00002
NM_004369.4(COL6A3):c.3700G>A (p.Val1234Met) rs747082651 0.00002
NM_004369.4(COL6A3):c.3790G>A (p.Val1264Met) rs541703064 0.00002
NM_004369.4(COL6A3):c.3831C>T (p.Ser1277=) rs114110705 0.00002
NM_004369.4(COL6A3):c.3891C>T (p.Asn1297=) rs200722316 0.00002
NM_004369.4(COL6A3):c.3923G>A (p.Arg1308Gln) rs774461787 0.00002
NM_004369.4(COL6A3):c.4141A>T (p.Ile1381Phe) rs750951694 0.00002
NM_004369.4(COL6A3):c.4170G>A (p.Ser1390=) rs770489225 0.00002
NM_004369.4(COL6A3):c.4180T>C (p.Phe1394Leu) rs746868834 0.00002
NM_004369.4(COL6A3):c.4339G>A (p.Val1447Ile) rs749556880 0.00002
NM_004369.4(COL6A3):c.4404C>T (p.Ile1468=) rs371075249 0.00002
NM_004369.4(COL6A3):c.453T>G (p.Asp151Glu) rs759004319 0.00002
NM_004369.4(COL6A3):c.462G>A (p.Ser154=) rs773051161 0.00002
NM_004369.4(COL6A3):c.467A>C (p.Asp156Ala) rs150972216 0.00002
NM_004369.4(COL6A3):c.4765G>A (p.Asp1589Asn) rs904372024 0.00002
NM_004369.4(COL6A3):c.4979G>A (p.Arg1660His) rs982703428 0.00002
NM_004369.4(COL6A3):c.4994T>C (p.Ile1665Thr) rs1034783532 0.00002
NM_004369.4(COL6A3):c.5118C>T (p.Ile1706=) rs766291321 0.00002
NM_004369.4(COL6A3):c.523A>G (p.Ile175Val) rs376501805 0.00002
NM_004369.4(COL6A3):c.5369C>T (p.Ala1790Val) rs140513454 0.00002
NM_004369.4(COL6A3):c.5395G>A (p.Val1799Met) rs768420468 0.00002
NM_004369.4(COL6A3):c.5418C>T (p.Ser1806=) rs398124123 0.00002
NM_004369.4(COL6A3):c.5528T>C (p.Phe1843Ser) rs770876436 0.00002
NM_004369.4(COL6A3):c.5634C>T (p.Ser1878=) rs770825082 0.00002
NM_004369.4(COL6A3):c.5868C>T (p.Asp1956=) rs777508994 0.00002
NM_004369.4(COL6A3):c.5909G>A (p.Arg1970His) rs368635334 0.00002
NM_004369.4(COL6A3):c.592T>G (p.Phe198Val) rs754618002 0.00002
NM_004369.4(COL6A3):c.6036C>T (p.Asp2012=) rs771602562 0.00002
NM_004369.4(COL6A3):c.6039G>A (p.Leu2013=) rs748005373 0.00002
NM_004369.4(COL6A3):c.6044A>G (p.Tyr2015Cys) rs768330671 0.00002
NM_004369.4(COL6A3):c.6068A>G (p.Asn2023Ser) rs115320113 0.00002
NM_004369.4(COL6A3):c.6117G>C (p.Gln2039His) rs750063736 0.00002
NM_004369.4(COL6A3):c.6128G>A (p.Arg2043His) rs142090771 0.00002
NM_004369.4(COL6A3):c.6210C>T (p.Pro2070=) rs774374140 0.00002
NM_004369.4(COL6A3):c.6342G>A (p.Leu2114=) rs886043269 0.00002
NM_004369.4(COL6A3):c.6352G>T (p.Asp2118Tyr) rs374476448 0.00002
NM_004369.4(COL6A3):c.6394A>T (p.Asn2132Tyr) rs750889657 0.00002
NM_004369.4(COL6A3):c.6408G>C (p.Arg2136Ser) rs781675126 0.00002
NM_004369.4(COL6A3):c.6425G>A (p.Arg2142Gln) rs766968738 0.00002
NM_004369.4(COL6A3):c.6528C>T (p.Leu2176=) rs560225578 0.00002
NM_004369.4(COL6A3):c.6730G>A (p.Glu2244Lys) rs753307921 0.00002
NM_004369.4(COL6A3):c.6759C>T (p.Ser2253=) rs375134458 0.00002
NM_004369.4(COL6A3):c.6957A>G (p.Pro2319=) rs777752945 0.00002
NM_004369.4(COL6A3):c.6966+19G>T rs369486630 0.00002
NM_004369.4(COL6A3):c.6998C>A (p.Thr2333Lys) rs557578629 0.00002
NM_004369.4(COL6A3):c.7037C>T (p.Ser2346Leu) rs377168716 0.00002
NM_004369.4(COL6A3):c.7103G>A (p.Gly2368Asp) rs746420745 0.00002
NM_004369.4(COL6A3):c.7122C>T (p.Ile2374=) rs747377101 0.00002
NM_004369.4(COL6A3):c.7177C>T (p.Pro2393Ser) rs778720252 0.00002
NM_004369.4(COL6A3):c.7235G>A (p.Gly2412Glu) rs776496050 0.00002
NM_004369.4(COL6A3):c.7259G>A (p.Arg2420Gln) rs772077690 0.00002
NM_004369.4(COL6A3):c.7323G>A (p.Arg2441=) rs1255913973 0.00002
NM_004369.4(COL6A3):c.7446C>G (p.Ser2482=) rs1439207088 0.00002
NM_004369.4(COL6A3):c.7476G>A (p.Ser2492=) rs150815991 0.00002
NM_004369.4(COL6A3):c.7491C>T (p.Asn2497=) rs751097250 0.00002
NM_004369.4(COL6A3):c.760G>A (p.Gly254Arg) rs571172347 0.00002
NM_004369.4(COL6A3):c.7777A>T (p.Ile2593Phe) rs755107410 0.00002
NM_004369.4(COL6A3):c.8358C>T (p.Phe2786=) rs113423040 0.00002
NM_004369.4(COL6A3):c.8393T>C (p.Val2798Ala) rs749169391 0.00002
NM_004369.4(COL6A3):c.8432G>A (p.Arg2811His) rs769656291 0.00002
NM_004369.4(COL6A3):c.8464+12G>A rs199707923 0.00002
NM_004369.4(COL6A3):c.8511T>C (p.Asp2837=) rs936115881 0.00002
NM_004369.4(COL6A3):c.8583C>T (p.Asn2861=) rs375994186 0.00002
NM_004369.4(COL6A3):c.8646G>A (p.Pro2882=) rs751922269 0.00002
NM_004369.4(COL6A3):c.8825C>T (p.Ala2942Val) rs757146083 0.00002
NM_004369.4(COL6A3):c.8854G>A (p.Val2952Ile) rs536607503 0.00002
NM_004369.4(COL6A3):c.8891C>T (p.Ala2964Val) rs563813743 0.00002
NM_004369.4(COL6A3):c.893C>T (p.Thr298Ile) rs776043658 0.00002
NM_004369.4(COL6A3):c.8966-20C>T rs557787842 0.00002
NM_004369.4(COL6A3):c.9041C>T (p.Pro3014Leu) rs758774990 0.00002
NM_004369.4(COL6A3):c.92-12C>G rs759990390 0.00002
NM_004369.4(COL6A3):c.9329-8T>C rs770436782 0.00002
NM_004369.4(COL6A3):c.9380A>G (p.Lys3127Arg) rs751270381 0.00002
NM_004369.4(COL6A3):c.972C>T (p.Leu324=) rs761334907 0.00002
NM_004369.4(COL6A3):c.973G>A (p.Ala325Thr) rs905662421 0.00002
NM_004370.6(COL12A1):c.1023T>C (p.Ile341=) rs747827698 0.00002
NM_004370.6(COL12A1):c.1171G>T (p.Val391Phe) rs565496900 0.00002
NM_004370.6(COL12A1):c.1322T>C (p.Ile441Thr) rs1223531902 0.00002
NM_004370.6(COL12A1):c.1429G>A (p.Val477Ile) rs759237307 0.00002
NM_004370.6(COL12A1):c.1458G>A (p.Arg486=) rs560103397 0.00002
NM_004370.6(COL12A1):c.1647G>A (p.Thr549=) rs761187970 0.00002
NM_004370.6(COL12A1):c.1716T>C (p.Phe572=) rs781239880 0.00002
NM_004370.6(COL12A1):c.1741C>T (p.Arg581Cys) rs764727126 0.00002
NM_004370.6(COL12A1):c.1743C>T (p.Arg581=) rs201511621 0.00002
NM_004370.6(COL12A1):c.1775C>T (p.Ala592Val) rs373292353 0.00002
NM_004370.6(COL12A1):c.189G>A (p.Thr63=) rs371298920 0.00002
NM_004370.6(COL12A1):c.191-11T>C rs765124645 0.00002
NM_004370.6(COL12A1):c.1988A>G (p.His663Arg) rs764241362 0.00002
NM_004370.6(COL12A1):c.19C>G (p.Pro7Ala) rs755046298 0.00002
NM_004370.6(COL12A1):c.2046G>C (p.Ser682=) rs1039108581 0.00002
NM_004370.6(COL12A1):c.2099A>G (p.Asn700Ser) rs752941721 0.00002
NM_004370.6(COL12A1):c.227C>T (p.Thr76Ile) rs746079159 0.00002
NM_004370.6(COL12A1):c.2378T>A (p.Ile793Asn) rs759182254 0.00002
NM_004370.6(COL12A1):c.2418A>G (p.Gly806=) rs776558080 0.00002
NM_004370.6(COL12A1):c.2437+13T>C rs545025813 0.00002
NM_004370.6(COL12A1):c.2445G>A (p.Gly815=) rs201021998 0.00002
NM_004370.6(COL12A1):c.2473C>G (p.Pro825Ala) rs770324764 0.00002
NM_004370.6(COL12A1):c.2552T>A (p.Val851Glu) rs771124556 0.00002
NM_004370.6(COL12A1):c.2633A>G (p.Gln878Arg) rs761818931 0.00002
NM_004370.6(COL12A1):c.2653G>A (p.Ala885Thr) rs373583477 0.00002
NM_004370.6(COL12A1):c.2679C>T (p.Asp893=) rs747852589 0.00002
NM_004370.6(COL12A1):c.2706T>G (p.Leu902=) rs765497889 0.00002
NM_004370.6(COL12A1):c.274G>T (p.Val92Leu) rs377482121 0.00002
NM_004370.6(COL12A1):c.2842A>T (p.Thr948Ser) rs932009209 0.00002
NM_004370.6(COL12A1):c.2957C>G (p.Pro986Arg) rs752812483 0.00002
NM_004370.6(COL12A1):c.2984-2A>G rs760316411 0.00002
NM_004370.6(COL12A1):c.3033A>C (p.Thr1011=) rs1424598359 0.00002
NM_004370.6(COL12A1):c.3151G>C (p.Val1051Leu) rs374540275 0.00002
NM_004370.6(COL12A1):c.3270T>C (p.Pro1090=) rs765327402 0.00002
NM_004370.6(COL12A1):c.3296C>A (p.Thr1099Asn) rs768943327 0.00002
NM_004370.6(COL12A1):c.3638C>A (p.Ala1213Glu) rs886380438 0.00002
NM_004370.6(COL12A1):c.3836-19C>G rs762897672 0.00002
NM_004370.6(COL12A1):c.3857G>A (p.Arg1286His) rs191757914 0.00002
NM_004370.6(COL12A1):c.3919A>G (p.Ile1307Val) rs749722543 0.00002
NM_004370.6(COL12A1):c.3937C>A (p.Gln1313Lys) rs780568012 0.00002
NM_004370.6(COL12A1):c.4105G>T (p.Asp1369Tyr) rs778970645 0.00002
NM_004370.6(COL12A1):c.4148-4G>A rs146899194 0.00002
NM_004370.6(COL12A1):c.4231A>G (p.Ser1411Gly) rs1385334403 0.00002
NM_004370.6(COL12A1):c.4241G>A (p.Arg1414Gln) rs769711983 0.00002
NM_004370.6(COL12A1):c.4255T>A (p.Tyr1419Asn) rs758640189 0.00002
NM_004370.6(COL12A1):c.4280G>A (p.Arg1427His) rs1033545876 0.00002
NM_004370.6(COL12A1):c.4356C>T (p.Val1452=) rs765983584 0.00002
NM_004370.6(COL12A1):c.43G>T (p.Ala15Ser) rs1453508139 0.00002
NM_004370.6(COL12A1):c.4402G>A (p.Gly1468Arg) rs771110521 0.00002
NM_004370.6(COL12A1):c.465T>C (p.Asn155=) rs777308349 0.00002
NM_004370.6(COL12A1):c.469A>G (p.Lys157Glu) rs373002461 0.00002
NM_004370.6(COL12A1):c.4738del (p.Ser1580fs) rs1471550984 0.00002
NM_004370.6(COL12A1):c.4762C>A (p.Pro1588Thr) rs772069524 0.00002
NM_004370.6(COL12A1):c.4833G>A (p.Glu1611=) rs369793258 0.00002
NM_004370.6(COL12A1):c.4856C>G (p.Thr1619Ser) rs757815790 0.00002
NM_004370.6(COL12A1):c.4905T>A (p.Ser1635=) rs1262898971 0.00002
NM_004370.6(COL12A1):c.4936G>C (p.Val1646Leu) rs779002973 0.00002
NM_004370.6(COL12A1):c.4980C>G (p.Asn1660Lys) rs368481619 0.00002
NM_004370.6(COL12A1):c.5116G>A (p.Glu1706Lys) rs767343975 0.00002
NM_004370.6(COL12A1):c.5180T>G (p.Ile1727Ser) rs752550335 0.00002
NM_004370.6(COL12A1):c.5208C>A (p.Asp1736Glu) rs776561287 0.00002
NM_004370.6(COL12A1):c.5295A>T (p.Thr1765=) rs570972516 0.00002
NM_004370.6(COL12A1):c.5445A>T (p.Pro1815=) rs1249793538 0.00002
NM_004370.6(COL12A1):c.5524+16G>C rs755749812 0.00002
NM_004370.6(COL12A1):c.5625G>A (p.Lys1875=) rs768333048 0.00002
NM_004370.6(COL12A1):c.5644G>A (p.Ala1882Thr) rs757943935 0.00002
NM_004370.6(COL12A1):c.5646A>T (p.Ala1882=) rs774390819 0.00002
NM_004370.6(COL12A1):c.5673C>G (p.Ile1891Met) rs750550229 0.00002
NM_004370.6(COL12A1):c.5767G>A (p.Gly1923Arg) rs764600940 0.00002
NM_004370.6(COL12A1):c.5850C>T (p.Leu1950=) rs779833436 0.00002
NM_004370.6(COL12A1):c.5896G>A (p.Val1966Ile) rs1244436929 0.00002
NM_004370.6(COL12A1):c.5937+13G>T rs769986889 0.00002
NM_004370.6(COL12A1):c.6103G>A (p.Gly2035Ser) rs750263276 0.00002
NM_004370.6(COL12A1):c.6147T>C (p.Asp2049=) rs200777154 0.00002
NM_004370.6(COL12A1):c.6199A>G (p.Ile2067Val) rs376192452 0.00002
NM_004370.6(COL12A1):c.6394T>C (p.Phe2132Leu) rs769755656 0.00002
NM_004370.6(COL12A1):c.6460+20A>G rs751297089 0.00002
NM_004370.6(COL12A1):c.6597A>G (p.Gln2199=) rs1442019750 0.00002
NM_004370.6(COL12A1):c.6810C>T (p.Val2270=) rs1384590633 0.00002
NM_004370.6(COL12A1):c.6860A>C (p.Lys2287Thr) rs993593939 0.00002
NM_004370.6(COL12A1):c.6919C>T (p.Pro2307Ser) rs758186176 0.00002
NM_004370.6(COL12A1):c.7087-14A>G rs779399089 0.00002
NM_004370.6(COL12A1):c.7131G>A (p.Lys2377=) rs1344927209 0.00002
NM_004370.6(COL12A1):c.7307G>A (p.Arg2436Gln) rs1315131480 0.00002
NM_004370.6(COL12A1):c.7428T>C (p.Ser2476=) rs777334909 0.00002
NM_004370.6(COL12A1):c.7472A>G (p.Lys2491Arg) rs199633490 0.00002
NM_004370.6(COL12A1):c.7490T>C (p.Ile2497Thr) rs1228621705 0.00002
NM_004370.6(COL12A1):c.7524T>C (p.Cys2508=) rs755597191 0.00002
NM_004370.6(COL12A1):c.7526C>G (p.Pro2509Arg) rs781184043 0.00002
NM_004370.6(COL12A1):c.7569G>A (p.Met2523Ile) rs371624564 0.00002
NM_004370.6(COL12A1):c.8130C>T (p.Cys2710=) rs1768550709 0.00002
NM_004370.6(COL12A1):c.823+10G>A rs1233608917 0.00002
NM_004370.6(COL12A1):c.8238T>C (p.Val2746=) rs555905349 0.00002
NM_004370.6(COL12A1):c.8501C>G (p.Pro2834Arg) rs199693016 0.00002
NM_004370.6(COL12A1):c.8523+11T>C rs370728186 0.00002
NM_004370.6(COL12A1):c.8523+16C>T rs751486526 0.00002
NM_004370.6(COL12A1):c.8563C>T (p.Pro2855Ser) rs1226171594 0.00002
NM_004370.6(COL12A1):c.8592C>G (p.Ser2864=) rs372700355 0.00002
NM_004370.6(COL12A1):c.8695G>A (p.Ala2899Thr) rs780457606 0.00002
NM_004370.6(COL12A1):c.8699C>T (p.Ser2900Phe) rs1198783904 0.00002
NM_004370.6(COL12A1):c.8714G>A (p.Arg2905Gln) rs759065663 0.00002
NM_004370.6(COL12A1):c.8745G>A (p.Leu2915=) rs749317169 0.00002
NM_004370.6(COL12A1):c.8830C>G (p.Pro2944Ala) rs778365596 0.00002
NM_004370.6(COL12A1):c.8841G>A (p.Pro2947=) rs767339128 0.00002
NM_004370.6(COL12A1):c.8937A>G (p.Glu2979=) rs372365979 0.00002
NM_004370.6(COL12A1):c.8989C>T (p.Arg2997Trp) rs757075255 0.00002
NM_004370.6(COL12A1):c.9048C>T (p.Ser3016=) rs374037516 0.00002
NM_004370.6(COL12A1):c.9104G>A (p.Arg3035Gln) rs749005420 0.00002
NM_004370.6(COL12A1):c.971T>G (p.Leu324Arg) rs762612450 0.00002
NM_004393.6(DAG1):c.1111C>T (p.Arg371Trp) rs62261248 0.00002
NM_004393.6(DAG1):c.1186A>G (p.Thr396Ala) rs779846682 0.00002
NM_004393.6(DAG1):c.1210A>G (p.Thr404Ala) rs769229834 0.00002
NM_004393.6(DAG1):c.1278G>A (p.Lys426=) rs766093420 0.00002
NM_004393.6(DAG1):c.1369C>T (p.Arg457Trp) rs544574838 0.00002
NM_004393.6(DAG1):c.1454G>A (p.Ser485Asn) rs764859263 0.00002
NM_004393.6(DAG1):c.1470C>T (p.Gly490=) rs545248602 0.00002
NM_004393.6(DAG1):c.1535C>T (p.Thr512Ile) rs527867946 0.00002
NM_004393.6(DAG1):c.1571A>G (p.Tyr524Cys) rs767905225 0.00002
NM_004393.6(DAG1):c.1641C>T (p.Gly547=) rs374490206 0.00002
NM_004393.6(DAG1):c.1847C>T (p.Pro616Leu) rs200334256 0.00002
NM_004393.6(DAG1):c.193G>A (p.Val65Ile) rs757379579 0.00002
NM_004393.6(DAG1):c.1965C>T (p.Ile655=) rs763343344 0.00002
NM_004393.6(DAG1):c.2035C>T (p.Arg679Cys) rs778608269 0.00002
NM_004393.6(DAG1):c.2083G>A (p.Ala695Thr) rs764107385 0.00002
NM_004393.6(DAG1):c.2116A>G (p.Thr706Ala) rs138386617 0.00002
NM_004393.6(DAG1):c.2193G>A (p.Ala731=) rs1258744347 0.00002
NM_004393.6(DAG1):c.2196G>A (p.Pro732=) rs773172058 0.00002
NM_004393.6(DAG1):c.2313C>T (p.Ala771=) rs764289801 0.00002
NM_004393.6(DAG1):c.2431C>T (p.Pro811Ser) rs368597067 0.00002
NM_004393.6(DAG1):c.2479C>T (p.Pro827Ser) rs141562264 0.00002
NM_004393.6(DAG1):c.2648T>C (p.Met883Thr) rs962242031 0.00002
NM_004393.6(DAG1):c.423C>T (p.Asn141=) rs78718082 0.00002
NM_004393.6(DAG1):c.424G>A (p.Gly142Arg) rs749962207 0.00002
NM_004393.6(DAG1):c.687G>A (p.Pro229=) rs975103246 0.00002
NM_004393.6(DAG1):c.695A>G (p.Asn232Ser) rs779274447 0.00002
NM_004393.6(DAG1):c.712A>G (p.Met238Val) rs148238809 0.00002
NM_004393.6(DAG1):c.902A>G (p.Asn301Ser) rs745559790 0.00002
NM_004393.6(DAG1):c.910C>T (p.Pro304Ser) rs147149991 0.00002
NM_004393.6(DAG1):c.93G>T (p.Trp31Cys) rs146339759 0.00002
NM_005198.5(CHKB):c.1082C>T (p.Ala361Val) rs755801840 0.00002
NM_005198.5(CHKB):c.195G>A (p.Gln65=) rs774840848 0.00002
NM_005198.5(CHKB):c.224+5G>C rs765251030 0.00002
NM_005198.5(CHKB):c.262C>G (p.Pro88Ala) rs547428711 0.00002
NM_005198.5(CHKB):c.333+17C>T rs777753875 0.00002
NM_005198.5(CHKB):c.385C>T (p.Arg129Trp) rs767938046 0.00002
NM_005198.5(CHKB):c.452G>A (p.Arg151Gln) rs184839240 0.00002
NM_005198.5(CHKB):c.537G>A (p.Met179Ile) rs1354225212 0.00002
NM_005198.5(CHKB):c.581+8A>T rs1057523950 0.00002
NM_005198.5(CHKB):c.702G>A (p.Ser234=) rs139952595 0.00002
NM_005198.5(CHKB):c.722A>G (p.Asn241Ser) rs371751084 0.00002
NM_005198.5(CHKB):c.745T>C (p.Leu249=) rs760310819 0.00002
NM_005198.5(CHKB):c.81G>A (p.Lys27=) rs774227072 0.00002
NM_005198.5(CHKB):c.905A>T (p.Asp302Val) rs775547378 0.00002
NM_005198.5(CHKB):c.928-4G>A rs751093137 0.00002
NM_005198.5(CHKB):c.937A>G (p.Ile313Val) rs757983603 0.00002
NM_006876.3(B4GAT1):c.1209G>A (p.Glu403=) rs747107884 0.00002
NM_006876.3(B4GAT1):c.300C>T (p.His100=) rs746274346 0.00002
NM_006876.3(B4GAT1):c.496G>A (p.Ala166Thr) rs753511719 0.00002
NM_006876.3(B4GAT1):c.512G>C (p.Arg171Pro) rs767498508 0.00002
NM_006876.3(B4GAT1):c.717C>A (p.Gly239=) rs199653445 0.00002
NM_006876.3(B4GAT1):c.852G>A (p.Val284=) rs1209507604 0.00002
NM_006876.3(B4GAT1):c.993A>G (p.Ala331=) rs763537240 0.00002
NM_013382.7(POMT2):c.*1053A>G rs886050817 0.00002
NM_013382.7(POMT2):c.1006+5G>A rs587780422 0.00002
NM_013382.7(POMT2):c.1006C>T (p.His336Tyr) rs765103940 0.00002
NM_013382.7(POMT2):c.1018G>A (p.Gly340Ser) rs778014493 0.00002
NM_013382.7(POMT2):c.1029C>T (p.Ile343=) rs758645178 0.00002
NM_013382.7(POMT2):c.1032T>C (p.Thr344=) rs748370238 0.00002
NM_013382.7(POMT2):c.1046G>A (p.Arg349Gln) rs756055923 0.00002
NM_013382.7(POMT2):c.1105C>T (p.Arg369Cys) rs779190087 0.00002
NM_013382.7(POMT2):c.1192G>C (p.Asp398His) rs145933402 0.00002
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp) rs727502855 0.00002
NM_013382.7(POMT2):c.1300C>T (p.Arg434Trp) rs768256055 0.00002
NM_013382.7(POMT2):c.1364G>A (p.Arg455Gln) rs757110456 0.00002
NM_013382.7(POMT2):c.1620G>A (p.Glu540=) rs886043258 0.00002
NM_013382.7(POMT2):c.1651C>T (p.Arg551Trp) rs751153662 0.00002
NM_013382.7(POMT2):c.1653+5G>T rs755390432 0.00002
NM_013382.7(POMT2):c.1654-8T>G rs780532724 0.00002
NM_013382.7(POMT2):c.1711C>T (p.Pro571Ser) rs771812476 0.00002
NM_013382.7(POMT2):c.1786-5C>G rs369026034 0.00002
NM_013382.7(POMT2):c.1977G>C (p.Arg659=) rs746640722 0.00002
NM_013382.7(POMT2):c.2148-6T>A rs1242617887 0.00002
NM_013382.7(POMT2):c.248+5G>C rs587777816 0.00002
NM_013382.7(POMT2):c.320C>T (p.Pro107Leu) rs398124264 0.00002
NM_013382.7(POMT2):c.512C>T (p.Ser171Leu) rs750346960 0.00002
NM_013382.7(POMT2):c.548-17G>A rs775177109 0.00002
NM_013382.7(POMT2):c.548-18C>T rs762471841 0.00002
NM_013382.7(POMT2):c.672C>T (p.Pro224=) rs147619625 0.00002
NM_013382.7(POMT2):c.796G>A (p.Gly266Arg) rs761773211 0.00002
NM_013382.7(POMT2):c.807T>G (p.Ser269Arg) rs755782894 0.00002
NM_013382.7(POMT2):c.816+8C>T rs187166139 0.00002
NM_013382.7(POMT2):c.856C>T (p.Leu286Phe) rs375363915 0.00002
NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys) rs587780423 0.00002
NM_013382.7(POMT2):c.886G>A (p.Ala296Thr) rs762885008 0.00002
NM_014254.3(RXYLT1):c.1016A>G (p.Tyr339Cys) rs150736997 0.00002
NM_017739.4(POMGNT1):c.*500G>A rs764840485 0.00002
NM_017739.4(POMGNT1):c.1011T>C (p.Ile337=) rs777911698 0.00002
NM_017739.4(POMGNT1):c.1014C>T (p.Asp338=) rs780555791 0.00002
NM_017739.4(POMGNT1):c.1027-5C>G rs779435288 0.00002
NM_017739.4(POMGNT1):c.106C>T (p.Arg36Trp) rs774633618 0.00002
NM_017739.4(POMGNT1):c.1077T>C (p.Thr359=) rs886042244 0.00002
NM_017739.4(POMGNT1):c.1142A>G (p.Asn381Ser) rs140846775 0.00002
NM_017739.4(POMGNT1):c.121-7C>T rs376662637 0.00002
NM_017739.4(POMGNT1):c.1305G>A (p.Glu435=) rs1272401946 0.00002
NM_017739.4(POMGNT1):c.130G>A (p.Val44Met) rs764388322 0.00002
NM_017739.4(POMGNT1):c.1414-11A>C rs772014671 0.00002
NM_017739.4(POMGNT1):c.1422T>C (p.Asp474=) rs770989782 0.00002
NM_017739.4(POMGNT1):c.1457G>A (p.Arg486Gln) rs753030030 0.00002
NM_017739.4(POMGNT1):c.1463G>A (p.Arg488Gln) rs766382416 0.00002
NM_017739.4(POMGNT1):c.1530C>T (p.Gly510=) rs1465862661 0.00002
NM_017739.4(POMGNT1):c.1533C>T (p.Tyr511=) rs1434020595 0.00002
NM_017739.4(POMGNT1):c.1649+1G>A rs752700398 0.00002
NM_017739.4(POMGNT1):c.185G>C (p.Arg62Pro) rs779506923 0.00002
NM_017739.4(POMGNT1):c.286C>T (p.Arg96Trp) rs770834730 0.00002
NM_017739.4(POMGNT1):c.300C>T (p.Asp100=) rs748654101 0.00002
NM_017739.4(POMGNT1):c.421-5G>A rs749131264 0.00002
NM_017739.4(POMGNT1):c.427G>A (p.Val143Met) rs755885722 0.00002
NM_017739.4(POMGNT1):c.535-5C>T rs975706637 0.00002
NM_017739.4(POMGNT1):c.584G>A (p.Ser195Asn) rs917194053 0.00002
NM_017739.4(POMGNT1):c.614G>A (p.Gly205Asp) rs1188660252 0.00002
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=) rs190057175 0.00002
NM_017739.4(POMGNT1):c.644G>A (p.Arg215Gln) rs770634205 0.00002
NM_017739.4(POMGNT1):c.753G>T (p.Glu251Asp) rs751316371 0.00002
NM_017739.4(POMGNT1):c.800G>A (p.Arg267His) rs756234628 0.00002
NM_017739.4(POMGNT1):c.860T>G (p.Ile287Ser) rs200863680 0.00002
NM_017739.4(POMGNT1):c.879+3G>A rs1411537744 0.00002
NM_017739.4(POMGNT1):c.879+7G>A rs768184440 0.00002
NM_017739.4(POMGNT1):c.879A>C (p.Pro293=) rs776248221 0.00002
NM_017739.4(POMGNT1):c.900C>T (p.Leu300=) rs778664130 0.00002
NM_017739.4(POMGNT1):c.910G>A (p.Val304Met) rs765980130 0.00002
NM_020451.3(SELENON):c.1075A>G (p.Ile359Val) rs201316362 0.00002
NM_020451.3(SELENON):c.1312G>A (p.Asp438Asn) rs200146431 0.00002
NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter) rs377215510 0.00002
NM_020451.3(SELENON):c.1427C>T (p.Ser476Leu) rs368377980 0.00002
NM_020451.3(SELENON):c.1644C>T (p.Ser548=) rs368507434 0.00002
NM_020451.3(SELENON):c.1649A>C (p.Lys550Thr) rs1001504099 0.00002
NM_020451.3(SELENON):c.164C>T (p.Ala55Val) rs2047850597 0.00002
NM_020451.3(SELENON):c.225C>T (p.Leu75=) rs889870201 0.00002
NM_020451.3(SELENON):c.430G>A (p.Glu144Lys) rs761068133 0.00002
NM_020451.3(SELENON):c.500C>T (p.Pro167Leu) rs747408056 0.00002
NM_020451.3(SELENON):c.614A>C (p.His205Pro) rs745937377 0.00002
NM_020451.3(SELENON):c.883G>A (p.Glu295Lys) rs978886878 0.00002
NM_020451.3(SELENON):c.902C>T (p.Pro301Leu) rs767340103 0.00002
NM_020451.3(SELENON):c.988C>T (p.Arg330Trp) rs1489695877 0.00002
NM_021971.4(GMPPB):c.1016A>G (p.Asn339Ser) rs753014812 0.00002
NM_021971.4(GMPPB):c.130-16G>T rs201729050 0.00002
NM_021971.4(GMPPB):c.211-10T>G rs539632278 0.00002
NM_021971.4(GMPPB):c.260-5C>T rs762790429 0.00002
NM_021971.4(GMPPB):c.432C>T (p.Tyr144=) rs779522830 0.00002
NM_021971.4(GMPPB):c.562-10A>G rs769914373 0.00002
NM_021971.4(GMPPB):c.697C>T (p.Leu233=) rs772099238 0.00002
NM_021971.4(GMPPB):c.727C>T (p.Arg243Trp) rs771028755 0.00002
NM_021971.4(GMPPB):c.759C>T (p.Asn253=) rs1032078654 0.00002
NM_021971.4(GMPPB):c.893G>A (p.Arg298His) rs766498097 0.00002
NM_021971.4(GMPPB):c.931C>T (p.Arg311Cys) rs371188899 0.00002
NM_021971.4(GMPPB):c.966C>T (p.Asn322=) rs781114909 0.00002
NM_024301.5(FKRP):c.1008G>C (p.Ala336=) rs748542420 0.00002
NM_024301.5(FKRP):c.111G>A (p.Arg37=) rs746276490 0.00002
NM_024301.5(FKRP):c.1191G>A (p.Ala397=) rs752767486 0.00002
NM_024301.5(FKRP):c.1224C>T (p.Ser408=) rs779487099 0.00002
NM_024301.5(FKRP):c.1257C>T (p.Pro419=) rs1335867192 0.00002
NM_024301.5(FKRP):c.1291A>G (p.Thr431Ala) rs1060502112 0.00002
NM_024301.5(FKRP):c.1317G>A (p.Val439=) rs757615255 0.00002
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) rs121908110 0.00002
NM_024301.5(FKRP):c.187G>A (p.Val63Met) rs955514933 0.00002
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu) rs770711331 0.00002
NM_024301.5(FKRP):c.344C>T (p.Ser115Leu) rs752018916 0.00002
NM_024301.5(FKRP):c.434T>G (p.Val145Gly) rs745681948 0.00002
NM_024301.5(FKRP):c.483C>T (p.Ala161=) rs797045576 0.00002
NM_024301.5(FKRP):c.554C>T (p.Ala185Val) rs1032563159 0.00002
NM_024301.5(FKRP):c.573C>T (p.Cys191=) rs763156437 0.00002
NM_024301.5(FKRP):c.628C>G (p.Leu210Val) rs778472624 0.00002
NM_024301.5(FKRP):c.725C>T (p.Ala242Val) rs1298321836 0.00002
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys) rs1247934219 0.00002
NM_024301.5(FKRP):c.85C>T (p.His29Tyr) rs886043192 0.00002
NM_024301.5(FKRP):c.893G>C (p.Gly298Ala) rs921829148 0.00002
NM_024301.5(FKRP):c.933G>A (p.Glu311=) rs911700598 0.00002
NM_024301.5(FKRP):c.972G>C (p.Glu324Asp) rs1365712686 0.00002
NM_032237.5(POMK):c.170A>G (p.Tyr57Cys) rs372826172 0.00002
NM_032237.5(POMK):c.457C>T (p.Pro153Ser) rs140899970 0.00002
NM_032237.5(POMK):c.55C>T (p.Pro19Ser) rs754284268 0.00002
NM_032237.5(POMK):c.66G>T (p.Gly22=) rs778266586 0.00002
NM_032237.5(POMK):c.681C>T (p.Asp227=) rs765987803 0.00002
NM_032237.5(POMK):c.687C>T (p.Asp229=) rs751085294 0.00002
NM_032237.5(POMK):c.68T>C (p.Leu23Pro) rs200277006 0.00002
NM_032237.5(POMK):c.807C>T (p.His269=) rs754174652 0.00002
NM_032237.5(POMK):c.82G>T (p.Ala28Ser) rs201506618 0.00002
NM_032237.5(POMK):c.905T>A (p.Val302Asp) rs199756983 0.00002
NM_032237.5(POMK):c.908G>A (p.Arg303Gln) rs370946940 0.00002
NM_032806.6(POMGNT2):c.1030A>G (p.Met344Val) rs757138666 0.00002
NM_032806.6(POMGNT2):c.1122C>T (p.Tyr374=) rs777746219 0.00002
NM_032806.6(POMGNT2):c.1124C>T (p.Thr375Ile) rs762080004 0.00002
NM_032806.6(POMGNT2):c.1160A>C (p.Asp387Ala) rs2089837275 0.00002
NM_032806.6(POMGNT2):c.1195G>A (p.Glu399Lys) rs754794110 0.00002
NM_032806.6(POMGNT2):c.1232del (p.Gln411fs) rs755487513 0.00002
NM_032806.6(POMGNT2):c.123G>A (p.Gln41=) rs771662422 0.00002
NM_032806.6(POMGNT2):c.1285C>T (p.Arg429Cys) rs1299816126 0.00002
NM_032806.6(POMGNT2):c.1296A>G (p.Pro432=) rs373951159 0.00002
NM_032806.6(POMGNT2):c.1380C>T (p.Thr460=) rs375414490 0.00002
NM_032806.6(POMGNT2):c.1434C>T (p.Val478=) rs771980076 0.00002
NM_032806.6(POMGNT2):c.1507A>G (p.Thr503Ala) rs750683375 0.00002
NM_032806.6(POMGNT2):c.1567G>A (p.Glu523Lys) rs776146393 0.00002
NM_032806.6(POMGNT2):c.1603G>A (p.Val535Met) rs376906501 0.00002
NM_032806.6(POMGNT2):c.1681C>T (p.Arg561Cys) rs147477491 0.00002
NM_032806.6(POMGNT2):c.215G>A (p.Arg72His) rs774060112 0.00002
NM_032806.6(POMGNT2):c.265G>A (p.Glu89Lys) rs766108967 0.00002
NM_032806.6(POMGNT2):c.290A>T (p.His97Leu) rs762349670 0.00002
NM_032806.6(POMGNT2):c.328C>T (p.Arg110Trp) rs201938216 0.00002
NM_032806.6(POMGNT2):c.329G>A (p.Arg110Gln) rs772319958 0.00002
NM_032806.6(POMGNT2):c.357A>G (p.Leu119=) rs748074599 0.00002
NM_032806.6(POMGNT2):c.393C>T (p.Asn131=) rs750111000 0.00002
NM_032806.6(POMGNT2):c.409G>T (p.Ala137Ser) rs760916035 0.00002
NM_032806.6(POMGNT2):c.420G>A (p.Leu140=) rs1176941282 0.00002
NM_032806.6(POMGNT2):c.429G>T (p.Met143Ile) rs770987277 0.00002
NM_032806.6(POMGNT2):c.525C>T (p.Leu175=) rs956081683 0.00002
NM_032806.6(POMGNT2):c.588C>T (p.Gly196=) rs755425952 0.00002
NM_032806.6(POMGNT2):c.654A>G (p.Ala218=) rs144519422 0.00002
NM_032806.6(POMGNT2):c.673C>T (p.Arg225Trp) rs1209630896 0.00002
NM_032806.6(POMGNT2):c.705C>A (p.Gly235=) rs760894012 0.00002
NM_032806.6(POMGNT2):c.734A>G (p.Tyr245Cys) rs1001285393 0.00002
NM_032806.6(POMGNT2):c.758C>T (p.Pro253Leu) rs374042455 0.00002
NM_032806.6(POMGNT2):c.775G>A (p.Val259Ile) rs577129212 0.00002
NM_032806.6(POMGNT2):c.806G>A (p.Arg269Gln) rs752677359 0.00002
NM_032806.6(POMGNT2):c.850C>T (p.Leu284=) rs776247217 0.00002
NM_032806.6(POMGNT2):c.852A>G (p.Leu284=) rs1553618336 0.00002
NM_133642.5(LARGE1):c.107-8C>T rs1006989010 0.00002
NM_133642.5(LARGE1):c.1132-3C>G rs755662032 0.00002
NM_133642.5(LARGE1):c.1132-8C>T rs748964975 0.00002
NM_133642.5(LARGE1):c.1241G>A (p.Arg414Gln) rs200603479 0.00002
NM_133642.5(LARGE1):c.1287+12G>A rs370541163 0.00002
NM_133642.5(LARGE1):c.1320C>T (p.Asp440=) rs772615481 0.00002
NM_133642.5(LARGE1):c.1340G>A (p.Arg447Gln) rs139603473 0.00002
NM_133642.5(LARGE1):c.1544G>A (p.Arg515His) rs368030516 0.00002
NM_133642.5(LARGE1):c.1785C>T (p.Pro595=) rs751341620 0.00002
NM_133642.5(LARGE1):c.1792G>A (p.Glu598Lys) rs144045461 0.00002
NM_133642.5(LARGE1):c.1839G>T (p.Leu613Phe) rs745392097 0.00002
NM_133642.5(LARGE1):c.1885G>A (p.Val629Ile) rs547202997 0.00002
NM_133642.5(LARGE1):c.1965C>T (p.Ala655=) rs368632863 0.00002
NM_133642.5(LARGE1):c.2070G>A (p.Val690=) rs771631103 0.00002
NM_133642.5(LARGE1):c.2169C>T (p.Tyr723=) rs1000835027 0.00002
NM_133642.5(LARGE1):c.2264A>G (p.Asn755Ser) rs755283207 0.00002
NM_133642.5(LARGE1):c.408+7G>A rs371246157 0.00002
NM_133642.5(LARGE1):c.424A>G (p.Ile142Val) rs199906790 0.00002
NM_133642.5(LARGE1):c.45G>A (p.Ser15=) rs752560976 0.00002
NM_133642.5(LARGE1):c.492-8C>T rs764180554 0.00002
NM_133642.5(LARGE1):c.590A>C (p.Asp197Ala) rs765069383 0.00002
NM_133642.5(LARGE1):c.606C>T (p.Asp202=) rs759394642 0.00002
NM_133642.5(LARGE1):c.615+8C>T rs587783731 0.00002
NM_152490.5(B3GALNT2):c.1040C>T (p.Thr347Met) rs746993541 0.00002
NM_152490.5(B3GALNT2):c.1092A>G (p.Glu364=) rs565049275 0.00002
NM_152490.5(B3GALNT2):c.134A>G (p.Gln45Arg) rs760940955 0.00002
NM_152490.5(B3GALNT2):c.1445C>T (p.Thr482Met) rs541697587 0.00002
NM_152490.5(B3GALNT2):c.249A>T (p.Thr83=) rs770930732 0.00002
NM_152490.5(B3GALNT2):c.258A>G (p.Gln86=) rs369467106 0.00002
NM_152490.5(B3GALNT2):c.362-12C>T rs546633200 0.00002
NM_152490.5(B3GALNT2):c.427C>T (p.Arg143Ter) rs762259872 0.00002
NM_152490.5(B3GALNT2):c.699T>C (p.Leu233=) rs368068535 0.00002
NM_152490.5(B3GALNT2):c.762+8del rs754890407 0.00002
NM_152490.5(B3GALNT2):c.897T>C (p.His299=) rs781287494 0.00002
NM_153741.2(DPM3):c.179G>T (p.Arg60Leu) rs773427971 0.00002
NM_170707.4(LMNA):c.-109G>T rs886045360 0.00002
NM_170707.4(LMNA):c.-1C>A rs886043355 0.00002
NM_170707.4(LMNA):c.-44T>A rs1185731069 0.00002
NM_170707.4(LMNA):c.1187A>T (p.Gln396Leu) rs61693978 0.00002
NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) rs373584456 0.00002
NM_170707.4(LMNA):c.1608+10C>T rs748917147 0.00002
NM_170707.4(LMNA):c.1698+57G>A rs557334569 0.00002
NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu) rs59601651 0.00002
NM_170707.4(LMNA):c.1857T>C (p.Ser619=) rs368581237 0.00002
NM_170707.4(LMNA):c.1960C>T (p.Arg654Ter) rs267607544 0.00002
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr) rs1060502216 0.00002
NM_170707.4(LMNA):c.294G>A (p.Glu98=) rs886045363 0.00002
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser) rs886045364 0.00002
NM_170707.4(LMNA):c.566G>A (p.Arg189Gln) rs766856162 0.00002
NM_170707.4(LMNA):c.647G>A (p.Arg216His) rs757041809 0.00002
NM_170707.4(LMNA):c.886C>T (p.Arg296Cys) rs375987939 0.00002
NM_170707.4(LMNA):c.977C>T (p.Ser326Leu) rs745540806 0.00002
NM_170707.4(LMNA):c.986G>A (p.Arg329His) rs397517913 0.00002
NM_173660.5(DOK7):c.101-16G>A rs755933024 0.00002
NM_173660.5(DOK7):c.1059G>A (p.Ser353=) rs781086422 0.00002
NM_173660.5(DOK7):c.1169C>T (p.Pro390Leu) rs1418197383 0.00002
NM_173660.5(DOK7):c.1180G>A (p.Glu394Lys) rs751691265 0.00002
NM_173660.5(DOK7):c.1197C>T (p.Thr399=) rs756540534 0.00002
NM_173660.5(DOK7):c.1226G>A (p.Arg409His) rs377528603 0.00002
NM_173660.5(DOK7):c.1244C>G (p.Pro415Arg) rs142510199 0.00002
NM_173660.5(DOK7):c.1289C>T (p.Ala430Val) rs745414274 0.00002
NM_173660.5(DOK7):c.1314G>A (p.Thr438=) rs371276345 0.00002
NM_173660.5(DOK7):c.1417G>A (p.Glu473Lys) rs1359635065 0.00002
NM_173660.5(DOK7):c.1447G>T (p.Gly483Trp) rs915179362 0.00002
NM_173660.5(DOK7):c.1458G>A (p.Pro486=) rs763843300 0.00002
NM_173660.5(DOK7):c.1506C>T (p.Pro502=) rs753827494 0.00002
NM_173660.5(DOK7):c.321G>A (p.Ala107=) rs769702844 0.00002
NM_173660.5(DOK7):c.326G>A (p.Gly109Asp) rs1319317420 0.00002
NM_173660.5(DOK7):c.453G>A (p.Gln151=) rs764598148 0.00002
NM_173660.5(DOK7):c.54+31_54+32insT rs1245236150 0.00002
NM_173660.5(DOK7):c.55-10G>A rs886043943 0.00002
NM_173660.5(DOK7):c.55-19C>T rs1316334613 0.00002
NM_173660.5(DOK7):c.557C>T (p.Ser186Leu) rs772577244 0.00002
NM_173660.5(DOK7):c.623G>T (p.Gly208Val) rs572714394 0.00002
NM_173660.5(DOK7):c.65G>A (p.Arg22Lys) rs756962738 0.00002
NM_173660.5(DOK7):c.689G>A (p.Arg230His) rs760941977 0.00002
NM_173660.5(DOK7):c.773-2_773-1del rs770163440 0.00002
NM_173660.5(DOK7):c.847G>A (p.Ala283Thr) rs139429423 0.00002
NM_173660.5(DOK7):c.86C>T (p.Pro29Leu) rs1478257270 0.00002
NM_173660.5(DOK7):c.914A>G (p.Gln305Arg) rs747816956 0.00002
NM_173660.5(DOK7):c.97G>T (p.Ala33Ser) rs1425852835 0.00002
NM_000426.4(LAMA2):c.112+1G>A rs398123367 0.00001
NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter) rs773209126 0.00001
NM_000426.4(LAMA2):c.1364G>A (p.Arg455Gln) rs201177178 0.00001
NM_000426.4(LAMA2):c.1782+2dup rs1272011145 0.00001
NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs) rs202247791 0.00001
NM_000426.4(LAMA2):c.2037G>C (p.Ala679=) rs398123369 0.00001
NM_000426.4(LAMA2):c.2089A>G (p.Ile697Val) rs778059153 0.00001
NM_000426.4(LAMA2):c.2176T>C (p.Cys726Arg) rs920771326 0.00001
NM_000426.4(LAMA2):c.2322+1G>C rs945091158 0.00001
NM_000426.4(LAMA2):c.2323-1G>T rs1278823424 0.00001
NM_000426.4(LAMA2):c.2375T>C (p.Phe792Ser) rs398123370 0.00001
NM_000426.4(LAMA2):c.2451-1del rs767784355 0.00001
NM_000426.4(LAMA2):c.2451-6A>G rs896691971 0.00001
NM_000426.4(LAMA2):c.2749+1G>C rs759555791 0.00001
NM_000426.4(LAMA2):c.2749+2dup rs759144210 0.00001
NM_000426.4(LAMA2):c.2836C>T (p.Gln946Ter) rs375638381 0.00001
NM_000426.4(LAMA2):c.2901C>A (p.Cys967Ter) rs121913577 0.00001
NM_000426.4(LAMA2):c.2T>C (p.Met1Thr) rs374403765 0.00001
NM_000426.4(LAMA2):c.3019C>T (p.Gln1007Ter) rs752094219 0.00001
NM_000426.4(LAMA2):c.307A>G (p.Ile103Val) rs369978622 0.00001
NM_000426.4(LAMA2):c.3110T>C (p.Ile1037Thr) rs797045679 0.00001
NM_000426.4(LAMA2):c.329G>A (p.Trp110Ter) rs1441933780 0.00001
NM_000426.4(LAMA2):c.3444C>A (p.Cys1148Ter) rs1383756739 0.00001
NM_000426.4(LAMA2):c.3508G>A (p.Gly1170Ser) rs747246881 0.00001
NM_000426.4(LAMA2):c.3556-13T>A rs775278003 0.00001
NM_000426.4(LAMA2):c.363C>A (p.Tyr121Ter) rs535635043 0.00001
NM_000426.4(LAMA2):c.3736-2A>T rs372715292 0.00001
NM_000426.4(LAMA2):c.3803C>T (p.Ser1268Phe) rs776042035 0.00001
NM_000426.4(LAMA2):c.3861C>T (p.Ile1287=) rs138702650 0.00001
NM_000426.4(LAMA2):c.396+1G>T rs770617208 0.00001
NM_000426.4(LAMA2):c.4107_4109del (p.Met1370del) rs1446213044 0.00001
NM_000426.4(LAMA2):c.4280del (p.Ser1427fs) rs1433071073 0.00001
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter) rs200923373 0.00001
NM_000426.4(LAMA2):c.443G>A (p.Arg148Gln) rs148103319 0.00001
NM_000426.4(LAMA2):c.4640C>T (p.Thr1547Met) rs778106503 0.00001
NM_000426.4(LAMA2):c.4645C>T (p.Arg1549Ter) rs121913575 0.00001
NM_000426.4(LAMA2):c.4699G>A (p.Glu1567Lys) rs371388948 0.00001
NM_000426.4(LAMA2):c.4858A>T (p.Lys1620Ter) rs762342110 0.00001
NM_000426.4(LAMA2):c.5072-3C>A rs759155854 0.00001
NM_000426.4(LAMA2):c.5234+1G>A rs781376927 0.00001
NM_000426.4(LAMA2):c.5285G>A (p.Arg1762Gln) rs138296015 0.00001
NM_000426.4(LAMA2):c.5602G>T (p.Glu1868Ter) rs1276300668 0.00001
NM_000426.4(LAMA2):c.5706_5712del (p.Asp1902fs) rs398123377 0.00001
NM_000426.4(LAMA2):c.5914C>T (p.Gln1972Ter) rs398123378 0.00001
NM_000426.4(LAMA2):c.5938G>A (p.Glu1980Lys) rs769574222 0.00001
NM_000426.4(LAMA2):c.6269-820A>G rs544696321 0.00001
NM_000426.4(LAMA2):c.6269-855A>T rs1554297879 0.00001
NM_000426.4(LAMA2):c.6269-856C>G rs763589558 0.00001
NM_000426.4(LAMA2):c.6520G>A (p.Val2174Ile) rs566853691 0.00001
NM_000426.4(LAMA2):c.6599G>A (p.Arg2200His) rs779326725 0.00001
NM_000426.4(LAMA2):c.6624G>C (p.Trp2208Cys) rs1294289973 0.00001
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter) rs398123383 0.00001
NM_000426.4(LAMA2):c.6993-2A>C rs200669208 0.00001
NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter) rs762806915 0.00001
NM_000426.4(LAMA2):c.716G>A (p.Arg239His) rs776777494 0.00001
NM_000426.4(LAMA2):c.7283C>G (p.Ser2428Ter) rs776104105 0.00001
NM_000426.4(LAMA2):c.7369A>C (p.Asn2457His) rs797045680 0.00001
NM_000426.4(LAMA2):c.7526T>A (p.Leu2509His) rs578183193 0.00001
NM_000426.4(LAMA2):c.7553C>A (p.Thr2518Asn) rs1313279253 0.00001
NM_000426.4(LAMA2):c.7572+1G>A rs1554305006 0.00001
NM_000426.4(LAMA2):c.7691T>C (p.Leu2564Pro) rs121913570 0.00001
NM_000426.4(LAMA2):c.7898+12A>G rs572960610 0.00001
NM_000426.4(LAMA2):c.8244+1G>A rs749522728 0.00001
NM_000426.4(LAMA2):c.8398G>A (p.Gly2800Ser) rs758491978 0.00001
NM_000426.4(LAMA2):c.8536C>T (p.Gln2846Ter) rs1463264889 0.00001
NM_000426.4(LAMA2):c.9217C>T (p.Leu3073Phe) rs1315125567 0.00001
NM_000426.4(LAMA2):c.9295A>T (p.Lys3099Ter) rs749797580 0.00001
NM_001077365.2(POMT1):c.1014C>T (p.His338=) rs886043203 0.00001
NM_001077365.2(POMT1):c.1015C>T (p.Gln339Ter) rs756973046 0.00001
NM_001077365.2(POMT1):c.1036C>T (p.Pro346Ser) rs1353274622 0.00001
NM_001077365.2(POMT1):c.1063A>G (p.Ile355Val) rs749853448 0.00001
NM_001077365.2(POMT1):c.1068A>G (p.Val356=) rs1280401262 0.00001
NM_001077365.2(POMT1):c.1074T>A (p.Asp358Glu) rs765263668 0.00001
NM_001077365.2(POMT1):c.1082+19A>G rs1454823245 0.00001
NM_001077365.2(POMT1):c.1101C>T (p.Ser367=) rs771523115 0.00001
NM_001077365.2(POMT1):c.1129G>A (p.Asp377Asn) rs886044066 0.00001
NM_001077365.2(POMT1):c.1166C>T (p.Ser389Phe) rs201587241 0.00001
NM_001077365.2(POMT1):c.1167C>T (p.Ser389=) rs1210555820 0.00001
NM_001077365.2(POMT1):c.1175+1G>A rs1051679985 0.00001
NM_001077365.2(POMT1):c.1175C>T (p.Thr392Met) rs397515400 0.00001
NM_001077365.2(POMT1):c.1176-2A>G rs746523421 0.00001
NM_001077365.2(POMT1):c.1193C>T (p.Pro398Leu) rs776388419 0.00001
NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs) rs1564364615 0.00001
NM_001077365.2(POMT1):c.1199G>C (p.Ser400Thr) rs149575164 0.00001
NM_001077365.2(POMT1):c.1255C>T (p.Gln419Ter) rs745509085 0.00001
NM_001077365.2(POMT1):c.1281G>A (p.Val427=) rs139720304 0.00001
NM_001077365.2(POMT1):c.130G>A (p.Glu44Lys) rs1397478363 0.00001
NM_001077365.2(POMT1):c.1331G>A (p.Arg444His) rs758736387 0.00001
NM_001077365.2(POMT1):c.1341C>T (p.His447=) rs200731790 0.00001
NM_001077365.2(POMT1):c.1353C>A (p.Ser451=) rs144385159 0.00001
NM_001077365.2(POMT1):c.1354G>A (p.Ala452Thr) rs150702948 0.00001
NM_001077365.2(POMT1):c.1357G>A (p.Val453Ile) rs1008021925 0.00001
NM_001077365.2(POMT1):c.1371C>T (p.Ser457=) rs746412899 0.00001
NM_001077365.2(POMT1):c.1391G>C (p.Trp464Ser) rs746849558 0.00001
NM_001077365.2(POMT1):c.1414G>A (p.Val472Ile) rs943420374 0.00001
NM_001077365.2(POMT1):c.1433G>A (p.Arg478Gln) rs1386572159 0.00001
NM_001077365.2(POMT1):c.1443C>T (p.His481=) rs139415150 0.00001
NM_001077365.2(POMT1):c.1452G>A (p.Thr484=) rs145164375 0.00001
NM_001077365.2(POMT1):c.1462G>A (p.Val488Met) rs748365119 0.00001
NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter) rs119462985 0.00001
NM_001077365.2(POMT1):c.1480G>A (p.Gly494Ser) rs200204923 0.00001
NM_001077365.2(POMT1):c.1484C>T (p.Ala495Val) rs761439623 0.00001
NM_001077365.2(POMT1):c.1486+11G>A rs755682718 0.00001
NM_001077365.2(POMT1):c.1490_1498del (p.Gln497_Gln499del) rs763262424 0.00001
NM_001077365.2(POMT1):c.1505G>A (p.Arg502Gln) rs1174599967 0.00001
NM_001077365.2(POMT1):c.1528G>A (p.Ala510Thr) rs1276417965 0.00001
NM_001077365.2(POMT1):c.1548G>C (p.Arg516Ser) rs1471379936 0.00001
NM_001077365.2(POMT1):c.1574C>T (p.Ser525Leu) rs1018748368 0.00001
NM_001077365.2(POMT1):c.1575G>A (p.Ser525=) rs753468585 0.00001
NM_001077365.2(POMT1):c.1584+9C>T rs1219705170 0.00001
NM_001077365.2(POMT1):c.1616C>T (p.Ser539Leu) rs754907726 0.00001
NM_001077365.2(POMT1):c.1617G>A (p.Ser539=) rs778687698 0.00001
NM_001077365.2(POMT1):c.1668T>C (p.Asn556=) rs1445855043 0.00001
NM_001077365.2(POMT1):c.1758C>T (p.Ala586=) rs373374873 0.00001
NM_001077365.2(POMT1):c.1764C>T (p.Tyr588=) rs773343894 0.00001
NM_001077365.2(POMT1):c.1765G>A (p.Ala589Thr) rs747138675 0.00001
NM_001077365.2(POMT1):c.1773G>A (p.Leu591=) rs762810201 0.00001
NM_001077365.2(POMT1):c.1792C>T (p.Arg598Ter) rs761848742 0.00001
NM_001077365.2(POMT1):c.1796G>A (p.Arg599Gln) rs367709136 0.00001
NM_001077365.2(POMT1):c.1825+6T>C rs1366898427 0.00001
NM_001077365.2(POMT1):c.1837C>T (p.Arg613Cys) rs759135168 0.00001
NM_001077365.2(POMT1):c.1867G>A (p.Gly623Ser) rs756303645 0.00001
NM_001077365.2(POMT1):c.1893G>A (p.Pro631=) rs749582742 0.00001
NM_001077365.2(POMT1):c.1938C>T (p.Pro646=) rs1481940320 0.00001
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) rs119462987 0.00001
NM_001077365.2(POMT1):c.1989C>T (p.Ser663=) rs764451132 0.00001
NM_001077365.2(POMT1):c.1995C>T (p.His665=) rs768108650 0.00001
NM_001077365.2(POMT1):c.2003+4C>T rs766635497 0.00001
NM_001077365.2(POMT1):c.2004-19G>A rs757031997 0.00001
NM_001077365.2(POMT1):c.2058C>T (p.Ser686=) rs886043948 0.00001
NM_001077365.2(POMT1):c.2068G>A (p.Val690Met) rs150209587 0.00001
NM_001077365.2(POMT1):c.2078C>T (p.Thr693Met) rs767241035 0.00001
NM_001077365.2(POMT1):c.2079G>A (p.Thr693=) rs200603905 0.00001
NM_001077365.2(POMT1):c.2096A>G (p.Tyr699Cys) rs754444374 0.00001
NM_001077365.2(POMT1):c.2123A>T (p.Glu708Val) rs975505270 0.00001
NM_001077365.2(POMT1):c.280+1G>T rs746823238 0.00001
NM_001077365.2(POMT1):c.301G>C (p.Val101Leu) rs199552424 0.00001
NM_001077365.2(POMT1):c.313C>T (p.Arg105Cys) rs1289335417 0.00001
NM_001077365.2(POMT1):c.345G>A (p.Ser115=) rs147212285 0.00001
NM_001077365.2(POMT1):c.426C>T (p.Ile142=) rs771390000 0.00001
NM_001077365.2(POMT1):c.427+11C>T rs765291250 0.00001
NM_001077365.2(POMT1):c.427+8C>T rs201727519 0.00001
NM_001077365.2(POMT1):c.499G>A (p.Val167Met) rs757875244 0.00001
NM_001077365.2(POMT1):c.516G>T (p.Lys172Asn) rs1439661209 0.00001
NM_001077365.2(POMT1):c.52A>C (p.Ser18Arg) rs779386306 0.00001
NM_001077365.2(POMT1):c.539+13G>T rs749842555 0.00001
NM_001077365.2(POMT1):c.539+3A>G rs780457748 0.00001
NM_001077365.2(POMT1):c.572C>T (p.Thr191Ile) rs1344992449 0.00001
NM_001077365.2(POMT1):c.585C>T (p.Val195=) rs764110407 0.00001
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) rs119462982 0.00001
NM_001077365.2(POMT1):c.605+1G>T rs766648827 0.00001
NM_001077365.2(POMT1):c.606-9T>C rs760178838 0.00001
NM_001077365.2(POMT1):c.614A>G (p.Tyr205Cys) rs1312643563 0.00001
NM_001077365.2(POMT1):c.639C>T (p.Leu213=) rs267602149 0.00001
NM_001077365.2(POMT1):c.650T>G (p.Val217Gly) rs1364769689 0.00001
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400 0.00001
NM_001077365.2(POMT1):c.699+32C>T rs201225383 0.00001
NM_001077365.2(POMT1):c.699+33G>A rs750646014 0.00001
NM_001077365.2(POMT1):c.699+62del rs1356791510 0.00001
NM_001077365.2(POMT1):c.699+67G>A rs776061161 0.00001
NM_001077365.2(POMT1):c.699+68T>C rs759254028 0.00001
NM_001077365.2(POMT1):c.700G>A (p.Val234Ile) rs755248350 0.00001
NM_001077365.2(POMT1):c.721C>G (p.Leu241Val) rs374335795 0.00001
NM_001077365.2(POMT1):c.723C>T (p.Leu241=) rs765290860 0.00001
NM_001077365.2(POMT1):c.724G>A (p.Ala242Thr) rs779771679 0.00001
NM_001077365.2(POMT1):c.753G>A (p.Pro251=) rs748485512 0.00001
NM_001077365.2(POMT1):c.756C>A (p.Val252=) rs1286632929 0.00001
NM_001077365.2(POMT1):c.774C>T (p.Phe258=) rs761217834 0.00001
NM_001077365.2(POMT1):c.780C>T (p.Tyr260=) rs776755041 0.00001
NM_001077365.2(POMT1):c.783C>T (p.Val261=) rs765387571 0.00001
NM_001077365.2(POMT1):c.816C>T (p.His272=) rs191404622 0.00001
NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter) rs119462981 0.00001
NM_001077365.2(POMT1):c.86G>T (p.Ser29Ile) rs771234098 0.00001
NM_001077365.2(POMT1):c.908C>T (p.Ser303Phe) rs1415622281 0.00001
NM_001077365.2(POMT1):c.917C>T (p.Thr306Ile) rs1377535146 0.00001
NM_001077365.2(POMT1):c.919C>T (p.Leu307=) rs983634068 0.00001
NM_001077365.2(POMT1):c.934G>A (p.Gly312Arg) rs1428763564 0.00001
NM_001077365.2(POMT1):c.97C>T (p.Arg33Ter) rs759848847 0.00001
NM_001077365.2(POMT1):c.986+1G>A rs961071228 0.00001
NM_001079802.2(FKTN):c.*1511A>G rs886063326 0.00001
NM_001079802.2(FKTN):c.*166A>G rs1419619269 0.00001
NM_001079802.2(FKTN):c.*324G>C rs536822992 0.00001
NM_001079802.2(FKTN):c.*4501A>G rs1045549173 0.00001
NM_001079802.2(FKTN):c.*4599G>A rs886063338 0.00001
NM_001079802.2(FKTN):c.*462T>C rs1014071784 0.00001
NM_001079802.2(FKTN):c.*4908A>G rs1834324161 0.00001
NM_001079802.2(FKTN):c.*4940C>G rs886063339 0.00001
NM_001079802.2(FKTN):c.*5003T>G rs886063340 0.00001
NM_001079802.2(FKTN):c.*5161C>T rs886063341 0.00001
NM_001079802.2(FKTN):c.*777C>A rs369316426 0.00001
NM_001079802.2(FKTN):c.-114G>A rs1564210000 0.00001
NM_001079802.2(FKTN):c.1009G>T (p.Asp337Tyr) rs752721354 0.00001
NM_001079802.2(FKTN):c.1010A>T (p.Asp337Val) rs760756067 0.00001
NM_001079802.2(FKTN):c.1022C>T (p.Pro341Leu) rs764441249 0.00001
NM_001079802.2(FKTN):c.1048G>A (p.Glu350Lys) rs750759323 0.00001
NM_001079802.2(FKTN):c.105+6T>G rs754468850 0.00001
NM_001079802.2(FKTN):c.1056C>G (p.Ser352Arg) rs149085844 0.00001
NM_001079802.2(FKTN):c.109G>A (p.Gly37Arg) rs773884973 0.00001
NM_001079802.2(FKTN):c.1107C>G (p.Phe369Leu) rs905981141 0.00001
NM_001079802.2(FKTN):c.111A>G (p.Gly37=) rs199594298 0.00001
NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs) rs1554761402 0.00001
NM_001079802.2(FKTN):c.1135A>G (p.Asn379Asp) rs1048088668 0.00001
NM_001079802.2(FKTN):c.1150G>A (p.Ala384Thr) rs1343750016 0.00001
NM_001079802.2(FKTN):c.1170C>A (p.Phe390Leu) rs1831570423 0.00001
NM_001079802.2(FKTN):c.1172+11A>T rs891588561 0.00001
NM_001079802.2(FKTN):c.1174T>C (p.Tyr392His) rs752191412 0.00001
NM_001079802.2(FKTN):c.1178T>C (p.Leu393Pro) rs374962879 0.00001
NM_001079802.2(FKTN):c.117T>C (p.Gly39=) rs766999475 0.00001
NM_001079802.2(FKTN):c.1181T>C (p.Phe394Ser) rs727502849 0.00001
NM_001079802.2(FKTN):c.1184C>T (p.Pro395Leu) rs1201619662 0.00001
NM_001079802.2(FKTN):c.1186A>C (p.Lys396Gln) rs1477740717 0.00001
NM_001079802.2(FKTN):c.1188G>A (p.Lys396=) rs886063320 0.00001
NM_001079802.2(FKTN):c.1194A>G (p.Thr398=) rs1833922498 0.00001
NM_001079802.2(FKTN):c.1195C>T (p.Leu399=) rs768867435 0.00001
NM_001079802.2(FKTN):c.1218C>T (p.Asp406=) rs760470596 0.00001
NM_001079802.2(FKTN):c.1224G>A (p.Lys408=) rs200091271 0.00001
NM_001079802.2(FKTN):c.1260A>G (p.Glu420=) rs1290782710 0.00001
NM_001079802.2(FKTN):c.1268A>G (p.Tyr423Cys) rs938689811 0.00001
NM_001079802.2(FKTN):c.1283A>G (p.Lys428Arg) rs1833937117 0.00001
NM_001079802.2(FKTN):c.1298C>T (p.Thr433Met) rs201590151 0.00001
NM_001079802.2(FKTN):c.1299G>A (p.Thr433=) rs912930168 0.00001
NM_001079802.2(FKTN):c.129C>T (p.Ser43=) rs760571628 0.00001
NM_001079802.2(FKTN):c.12C>G (p.Ile4Met) rs1389073650 0.00001
NM_001079802.2(FKTN):c.1311G>A (p.Lys437=) rs904253784 0.00001
NM_001079802.2(FKTN):c.1380dup (p.Tyr461fs) rs775366895 0.00001
NM_001079802.2(FKTN):c.138C>A (p.Ser46Arg) rs1826853440 0.00001
NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter) rs119463990 0.00001
NM_001079802.2(FKTN):c.13A>G (p.Asn5Asp) rs765929865 0.00001
NM_001079802.2(FKTN):c.143T>C (p.Ile48Thr) rs886044478 0.00001
NM_001079802.2(FKTN):c.154A>G (p.Ser52Gly) rs1064796459 0.00001
NM_001079802.2(FKTN):c.166-12T>A rs1419099088 0.00001
NM_001079802.2(FKTN):c.180A>G (p.Lys60=) rs886042513 0.00001
NM_001079802.2(FKTN):c.198C>G (p.Ser66=) rs367868644 0.00001
NM_001079802.2(FKTN):c.21C>T (p.Asn7=) rs564632018 0.00001
NM_001079802.2(FKTN):c.277A>G (p.Thr93Ala) rs886063319 0.00001
NM_001079802.2(FKTN):c.292A>G (p.Thr98Ala) rs758798692 0.00001
NM_001079802.2(FKTN):c.296C>T (p.Ser99Leu) rs768260007 0.00001
NM_001079802.2(FKTN):c.305A>G (p.Lys102Arg) rs757253023 0.00001
NM_001079802.2(FKTN):c.330T>C (p.Phe110=) rs769567661 0.00001
NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter) rs119463991 0.00001
NM_001079802.2(FKTN):c.34C>G (p.Leu12Val) rs939985733 0.00001
NM_001079802.2(FKTN):c.357A>G (p.Leu119=) rs760933616 0.00001
NM_001079802.2(FKTN):c.366T>G (p.Asn122Lys) rs150591365 0.00001
NM_001079802.2(FKTN):c.369+1G>C rs764125009 0.00001
NM_001079802.2(FKTN):c.382C>T (p.Arg128Trp) rs767026996 0.00001
NM_001079802.2(FKTN):c.389C>T (p.Ala130Val) rs752196884 0.00001
NM_001079802.2(FKTN):c.42del (p.Thr14_Leu15insTer) rs1309132512 0.00001
NM_001079802.2(FKTN):c.436C>T (p.Arg146Trp) rs1208639233 0.00001
NM_001079802.2(FKTN):c.443A>G (p.Asp148Gly) rs773305645 0.00001
NM_001079802.2(FKTN):c.445G>A (p.Gly149Arg) rs200686690 0.00001
NM_001079802.2(FKTN):c.508G>A (p.Ala170Thr) rs778818366 0.00001
NM_001079802.2(FKTN):c.516C>G (p.His172Gln) rs1436386821 0.00001
NM_001079802.2(FKTN):c.526T>G (p.Phe176Val) rs746813994 0.00001
NM_001079802.2(FKTN):c.545A>G (p.Asn182Ser) rs760170065 0.00001
NM_001079802.2(FKTN):c.556C>T (p.His186Tyr) rs767961629 0.00001
NM_001079802.2(FKTN):c.558C>T (p.His186=) rs761342779 0.00001
NM_001079802.2(FKTN):c.559G>A (p.Gly187Ser) rs1187674499 0.00001
NM_001079802.2(FKTN):c.584T>C (p.Ile195Thr) rs753503050 0.00001
NM_001079802.2(FKTN):c.588C>T (p.Asp196=) rs1222153269 0.00001
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) rs746763506 0.00001
NM_001079802.2(FKTN):c.643G>C (p.Asp215His) rs745975808 0.00001
NM_001079802.2(FKTN):c.647+4A>G rs1828505595 0.00001
NM_001079802.2(FKTN):c.648-8G>A rs754786678 0.00001
NM_001079802.2(FKTN):c.648-9T>C rs751515600 0.00001
NM_001079802.2(FKTN):c.66G>A (p.Leu22=) rs762170532 0.00001
NM_001079802.2(FKTN):c.685G>A (p.Val229Ile) rs772111890 0.00001
NM_001079802.2(FKTN):c.6T>G (p.Ser2Arg) rs1350049256 0.00001
NM_001079802.2(FKTN):c.706A>G (p.Met236Val) rs886042241 0.00001
NM_001079802.2(FKTN):c.707T>G (p.Met236Arg) rs769033293 0.00001
NM_001079802.2(FKTN):c.755A>T (p.Tyr252Phe) rs574626895 0.00001
NM_001079802.2(FKTN):c.75G>A (p.Leu25=) rs188900946 0.00001
NM_001079802.2(FKTN):c.78C>T (p.Tyr26=) rs369797361 0.00001
NM_001079802.2(FKTN):c.793G>C (p.Asp265His) rs1372525892 0.00001
NM_001079802.2(FKTN):c.7A>G (p.Arg3Gly) rs1037406947 0.00001
NM_001079802.2(FKTN):c.802G>T (p.Val268Leu) rs878854165 0.00001
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp) rs558187116 0.00001
NM_001079802.2(FKTN):c.841C>T (p.Leu281=) rs199697041 0.00001
NM_001079802.2(FKTN):c.855G>A (p.Ala285=) rs1057521448 0.00001
NM_001079802.2(FKTN):c.895A>C (p.Ser299Arg) rs367662190 0.00001
NM_001079802.2(FKTN):c.910+4A>C rs1830640350 0.00001
NM_001079802.2(FKTN):c.910+9C>G rs1261411883 0.00001
NM_001079802.2(FKTN):c.911-12T>A rs1831127930 0.00001
NM_001079802.2(FKTN):c.911-1G>A rs958678700 0.00001
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln) rs119463992 0.00001
NM_001079802.2(FKTN):c.92A>G (p.Tyr31Cys) rs533603648 0.00001
NM_001079802.2(FKTN):c.939T>G (p.Pro313=) rs1352489957 0.00001
NM_001079802.2(FKTN):c.942T>C (p.Tyr314=) rs970907026 0.00001
NM_001079802.2(FKTN):c.972A>G (p.Ile324Met) rs769691253 0.00001
NM_001079802.2(FKTN):c.978T>C (p.Asp326=) rs1018122957 0.00001
NM_001079802.2(FKTN):c.989A>G (p.Asp330Gly) rs1414568181 0.00001
NM_001101426.4(CRPPA):c.1045C>A (p.Gln349Lys) rs774852908 0.00001
NM_001101426.4(CRPPA):c.1092C>T (p.Cys364=) rs1418861315 0.00001
NM_001101426.4(CRPPA):c.1120-4G>A rs886042445 0.00001
NM_001101426.4(CRPPA):c.1128T>C (p.Phe376=) rs1403975634 0.00001
NM_001101426.4(CRPPA):c.1146A>G (p.Val382=) rs746837359 0.00001
NM_001101426.4(CRPPA):c.1192G>A (p.Ala398Thr) rs762217429 0.00001
NM_001101426.4(CRPPA):c.1194A>T (p.Ala398=) rs769147263 0.00001
NM_001101426.4(CRPPA):c.1226A>G (p.Tyr409Cys) rs1325845862 0.00001
NM_001101426.4(CRPPA):c.1234C>G (p.Leu412Val) rs747967711 0.00001
NM_001101426.4(CRPPA):c.1251+19T>A rs751907599 0.00001
NM_001101426.4(CRPPA):c.1251+2T>C rs370373583 0.00001
NM_001101426.4(CRPPA):c.1282C>A (p.Gln428Lys) rs985567350 0.00001
NM_001101426.4(CRPPA):c.12G>A (p.Gly4=) rs1284386964 0.00001
NM_001101426.4(CRPPA):c.1301C>T (p.Ala434Val) rs886044370 0.00001
NM_001101426.4(CRPPA):c.1305A>G (p.Ser435=) rs1027005660 0.00001
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg) rs186882839 0.00001
NM_001101426.4(CRPPA):c.136G>C (p.Ala46Pro) rs886043286 0.00001
NM_001101426.4(CRPPA):c.139G>A (p.Val47Met) rs886043960 0.00001
NM_001101426.4(CRPPA):c.13C>T (p.Pro5Ser) rs1037010291 0.00001
NM_001101426.4(CRPPA):c.189C>T (p.Pro63=) rs1788325301 0.00001
NM_001101426.4(CRPPA):c.193C>A (p.Pro65Thr) rs886042489 0.00001
NM_001101426.4(CRPPA):c.1A>G (p.Met1Val) rs886043573 0.00001
NM_001101426.4(CRPPA):c.231C>T (p.Ile77=) rs1271300165 0.00001
NM_001101426.4(CRPPA):c.240C>T (p.Thr80=) rs1281024369 0.00001
NM_001101426.4(CRPPA):c.257+10C>A rs1391659845 0.00001
NM_001101426.4(CRPPA):c.257+17C>T rs895474080 0.00001
NM_001101426.4(CRPPA):c.283G>T (p.Val95Leu) rs751704613 0.00001
NM_001101426.4(CRPPA):c.315G>A (p.Met105Ile) rs1190661385 0.00001
NM_001101426.4(CRPPA):c.332A>G (p.Lys111Arg) rs373082181 0.00001
NM_001101426.4(CRPPA):c.361G>A (p.Glu121Lys) rs764542382 0.00001
NM_001101426.4(CRPPA):c.37G>A (p.Glu13Lys) rs1403508868 0.00001
NM_001101426.4(CRPPA):c.382A>C (p.Arg128=) rs765435429 0.00001
NM_001101426.4(CRPPA):c.409C>G (p.Leu137Val) rs769346091 0.00001
NM_001101426.4(CRPPA):c.498C>A (p.Val166=) rs774132708 0.00001
NM_001101426.4(CRPPA):c.533G>C (p.Gly178Ala) rs747435762 0.00001
NM_001101426.4(CRPPA):c.547A>G (p.Ile183Val) rs1330602558 0.00001
NM_001101426.4(CRPPA):c.550C>T (p.Arg184Ter) rs370499190 0.00001
NM_001101426.4(CRPPA):c.570C>T (p.Val190=) rs1170483329 0.00001
NM_001101426.4(CRPPA):c.571G>A (p.Val191Ile) rs757165158 0.00001
NM_001101426.4(CRPPA):c.58G>A (p.Gly20Ser) rs920749386 0.00001
NM_001101426.4(CRPPA):c.636A>C (p.Glu212Asp) rs1008210645 0.00001
NM_001101426.4(CRPPA):c.645A>G (p.Gln215=) rs532057629 0.00001
NM_001101426.4(CRPPA):c.658G>C (p.Asp220His) rs1210618248 0.00001
NM_001101426.4(CRPPA):c.676T>C (p.Tyr226His) rs1282788711 0.00001
NM_001101426.4(CRPPA):c.677A>G (p.Tyr226Cys) rs1289931198 0.00001
NM_001101426.4(CRPPA):c.685-3C>T rs776027620 0.00001
NM_001101426.4(CRPPA):c.715G>A (p.Glu239Lys) rs778786691 0.00001
NM_001101426.4(CRPPA):c.765A>G (p.Val255=) rs372514498 0.00001
NM_001101426.4(CRPPA):c.7G>C (p.Ala3Pro) rs794726893 0.00001
NM_001101426.4(CRPPA):c.803G>A (p.Arg268Gln) rs757986706 0.00001
NM_001101426.4(CRPPA):c.836-9T>A rs754223084 0.00001
NM_001101426.4(CRPPA):c.839G>T (p.Arg280Ile) rs761189549 0.00001
NM_001101426.4(CRPPA):c.840A>G (p.Arg280=) rs148054819 0.00001
NM_001101426.4(CRPPA):c.890A>C (p.His297Pro) rs1562603563 0.00001
NM_001101426.4(CRPPA):c.899A>G (p.His300Arg) rs1345477841 0.00001
NM_001101426.4(CRPPA):c.905T>C (p.Leu302Pro) rs747622460 0.00001
NM_001101426.4(CRPPA):c.909A>G (p.Glu303=) rs778599626 0.00001
NM_001101426.4(CRPPA):c.933+3A>G rs377582530 0.00001
NM_001101426.4(CRPPA):c.934-9T>C rs771988779 0.00001
NM_001101426.4(CRPPA):c.935A>G (p.His312Arg) rs555932095 0.00001
NM_001101426.4(CRPPA):c.948A>G (p.Thr316=) rs780620823 0.00001
NM_001101426.4(CRPPA):c.951T>C (p.Ser317=) rs1188081832 0.00001
NM_001101426.4(CRPPA):c.95T>C (p.Leu32Pro) rs1020950940 0.00001
NM_001101426.4(CRPPA):c.972C>A (p.Gly324=) rs370052768 0.00001
NM_001101426.4(CRPPA):c.993C>G (p.Ile331Met) rs1783720553 0.00001
NM_001848.3(COL6A1):c.1002+6T>C rs13052179 0.00001
NM_001848.3(COL6A1):c.101G>T (p.Cys34Phe) rs756091850 0.00001
NM_001848.3(COL6A1):c.1044G>A (p.Ser348=) rs749001111 0.00001
NM_001848.3(COL6A1):c.1057-14C>T rs572427436 0.00001
NM_001848.3(COL6A1):c.1061T>C (p.Ile354Thr) rs2077773578 0.00001
NM_001848.3(COL6A1):c.108G>T (p.Val36=) rs1259912974 0.00001
NM_001848.3(COL6A1):c.1107G>A (p.Leu369=) rs746451311 0.00001
NM_001848.3(COL6A1):c.1182+12C>T rs374319468 0.00001
NM_001848.3(COL6A1):c.1182+5G>C rs1473206283 0.00001
NM_001848.3(COL6A1):c.1190C>T (p.Pro397Leu) rs746386684 0.00001
NM_001848.3(COL6A1):c.1191G>A (p.Pro397=) rs531640667 0.00001
NM_001848.3(COL6A1):c.1209C>T (p.Pro403=) rs763249073 0.00001
NM_001848.3(COL6A1):c.1226C>T (p.Ala409Val) rs765826390 0.00001
NM_001848.3(COL6A1):c.1236+14C>T rs372483312 0.00001
NM_001848.3(COL6A1):c.1236+3G>A rs968780030 0.00001
NM_001848.3(COL6A1):c.1255G>A (p.Gly419Ser) rs745485695 0.00001
NM_001848.3(COL6A1):c.1264G>A (p.Gly422Arg) rs774032338 0.00001
NM_001848.3(COL6A1):c.1273-7C>T rs1478209508 0.00001
NM_001848.3(COL6A1):c.1287G>A (p.Glu429=) rs1326051791 0.00001
NM_001848.3(COL6A1):c.1294C>A (p.Pro432Thr) rs1436272876 0.00001
NM_001848.3(COL6A1):c.1297C>T (p.Arg433Trp) rs753297152 0.00001
NM_001848.3(COL6A1):c.131C>G (p.Thr44Ser) rs2077714741 0.00001
NM_001848.3(COL6A1):c.1330G>A (p.Asp444Asn) rs778234022 0.00001
NM_001848.3(COL6A1):c.1352A>G (p.Gln451Arg) rs764235653 0.00001
NM_001848.3(COL6A1):c.1375C>T (p.Pro459Ser) rs1235742792 0.00001
NM_001848.3(COL6A1):c.1402G>A (p.Glu468Lys) rs1467389704 0.00001
NM_001848.3(COL6A1):c.1433G>A (p.Arg478Gln) rs776914710 0.00001
NM_001848.3(COL6A1):c.1451C>T (p.Pro484Leu) rs779748438 0.00001
NM_001848.3(COL6A1):c.1462-15C>A rs1369365476 0.00001
NM_001848.3(COL6A1):c.1462-16T>G rs746367774 0.00001
NM_001848.3(COL6A1):c.1462-20C>T rs774637944 0.00001
NM_001848.3(COL6A1):c.1468A>G (p.Arg490Gly) rs2077813854 0.00001
NM_001848.3(COL6A1):c.1488C>T (p.Ala496=) rs776768334 0.00001
NM_001848.3(COL6A1):c.1525-9C>T rs768508076 0.00001
NM_001848.3(COL6A1):c.1575+4A>G rs1306019240 0.00001
NM_001848.3(COL6A1):c.1575+6T>C rs745511169 0.00001
NM_001848.3(COL6A1):c.1580A>G (p.Tyr527Cys) rs2077819024 0.00001
NM_001848.3(COL6A1):c.1589A>G (p.Asn530Ser) rs771012175 0.00001
NM_001848.3(COL6A1):c.1597G>A (p.Ala533Thr) rs546480880 0.00001
NM_001848.3(COL6A1):c.1611+12C>T rs543297828 0.00001
NM_001848.3(COL6A1):c.162C>T (p.Pro54=) rs775062782 0.00001
NM_001848.3(COL6A1):c.1659G>A (p.Gly553=) rs746962599 0.00001
NM_001848.3(COL6A1):c.1666G>A (p.Gly556Arg) rs886043521 0.00001
NM_001848.3(COL6A1):c.1675-10T>A rs570045560 0.00001
NM_001848.3(COL6A1):c.1675-19C>T rs372430900 0.00001
NM_001848.3(COL6A1):c.1681G>A (p.Asp561Asn) rs140517685 0.00001
NM_001848.3(COL6A1):c.1710A>C (p.Ala570=) rs763515261 0.00001
NM_001848.3(COL6A1):c.1718A>G (p.Tyr573Cys) rs887316220 0.00001
NM_001848.3(COL6A1):c.1728C>T (p.Pro576=) rs371878987 0.00001
NM_001848.3(COL6A1):c.1732G>A (p.Gly578Ser) rs778884385 0.00001
NM_001848.3(COL6A1):c.1740+3G>C rs1314703448 0.00001
NM_001848.3(COL6A1):c.1741-7C>T rs771621923 0.00001
NM_001848.3(COL6A1):c.1742G>C (p.Gly581Ala) rs1462355816 0.00001
NM_001848.3(COL6A1):c.1772C>T (p.Pro591Leu) rs1020480977 0.00001
NM_001848.3(COL6A1):c.1776+16T>G rs780222583 0.00001
NM_001848.3(COL6A1):c.1777-17C>T rs750950364 0.00001
NM_001848.3(COL6A1):c.1782C>T (p.Cys594=) rs745847824 0.00001
NM_001848.3(COL6A1):c.1790T>G (p.Leu597Trp) rs201365474 0.00001
NM_001848.3(COL6A1):c.1817G>T (p.Cys606Phe) rs368925441 0.00001
NM_001848.3(COL6A1):c.1822+18G>A rs1187486319 0.00001
NM_001848.3(COL6A1):c.1823-15C>T rs747230596 0.00001
NM_001848.3(COL6A1):c.1834G>A (p.Gly612Ser) rs760265069 0.00001
NM_001848.3(COL6A1):c.1837C>A (p.Pro613Thr) rs200770631 0.00001
NM_001848.3(COL6A1):c.1839C>T (p.Pro613=) rs753486364 0.00001
NM_001848.3(COL6A1):c.186C>G (p.Val62=) rs1484725853 0.00001
NM_001848.3(COL6A1):c.1893C>T (p.Phe631=) rs374031718 0.00001
NM_001848.3(COL6A1):c.1898T>C (p.Ile633Thr) rs1237092252 0.00001
NM_001848.3(COL6A1):c.1908C>G (p.Asp636Glu) rs886042572 0.00001
NM_001848.3(COL6A1):c.1912G>A (p.Val638Ile) rs749790625 0.00001
NM_001848.3(COL6A1):c.1956+16G>A rs755009917 0.00001
NM_001848.3(COL6A1):c.1956G>A (p.Lys652=) rs750677675 0.00001
NM_001848.3(COL6A1):c.1957-16G>C rs373143020 0.00001
NM_001848.3(COL6A1):c.1977C>T (p.Tyr659=) rs121912937 0.00001
NM_001848.3(COL6A1):c.1978G>A (p.Ala660Thr) rs781341547 0.00001
NM_001848.3(COL6A1):c.2009T>C (p.Met670Thr) rs776241591 0.00001
NM_001848.3(COL6A1):c.2014G>A (p.Glu672Lys) rs765421411 0.00001
NM_001848.3(COL6A1):c.2021T>G (p.Val674Gly) rs1255698056 0.00001
NM_001848.3(COL6A1):c.2067-18C>T rs201620721 0.00001
NM_001848.3(COL6A1):c.2070C>T (p.Ala690=) rs1421386259 0.00001
NM_001848.3(COL6A1):c.2097C>T (p.Gly699=) rs537366421 0.00001
NM_001848.3(COL6A1):c.2127C>T (p.Tyr709=) rs760039653 0.00001
NM_001848.3(COL6A1):c.2129C>T (p.Thr710Met) rs765641686 0.00001
NM_001848.3(COL6A1):c.2132G>A (p.Arg711Gln) rs766956281 0.00001
NM_001848.3(COL6A1):c.2147C>T (p.Pro716Leu) rs755589190 0.00001
NM_001848.3(COL6A1):c.2188G>A (p.Gly730Arg) rs1297620940 0.00001
NM_001848.3(COL6A1):c.2190G>A (p.Gly730=) rs777828224 0.00001
NM_001848.3(COL6A1):c.2239C>G (p.Pro747Ala) rs765815035 0.00001
NM_001848.3(COL6A1):c.2241C>T (p.Pro747=) rs753778247 0.00001
NM_001848.3(COL6A1):c.2256C>A (p.Val752=) rs749698686 0.00001
NM_001848.3(COL6A1):c.2260G>A (p.Val754Met) rs774657642 0.00001
NM_001848.3(COL6A1):c.2298A>G (p.Ser766=) rs761665024 0.00001
NM_001848.3(COL6A1):c.2338T>C (p.Ser780Pro) rs754399146 0.00001
NM_001848.3(COL6A1):c.2353G>A (p.Gly785Ser) rs370546340 0.00001
NM_001848.3(COL6A1):c.2361G>A (p.Ser787=) rs774817933 0.00001
NM_001848.3(COL6A1):c.2366T>C (p.Val789Ala) rs762499313 0.00001
NM_001848.3(COL6A1):c.2385G>A (p.Glu795=) rs774423958 0.00001
NM_001848.3(COL6A1):c.2411A>G (p.Asn804Ser) rs750677189 0.00001
NM_001848.3(COL6A1):c.2421C>T (p.Ala807=) rs1472258951 0.00001
NM_001848.3(COL6A1):c.2437A>G (p.Lys813Glu) rs936641232 0.00001
NM_001848.3(COL6A1):c.2444G>T (p.Cys815Phe) rs536370523 0.00001
NM_001848.3(COL6A1):c.244C>T (p.Arg82Ter) rs1422385556 0.00001
NM_001848.3(COL6A1):c.2464+18C>T rs754626987 0.00001
NM_001848.3(COL6A1):c.2465-10C>T rs373158112 0.00001
NM_001848.3(COL6A1):c.2465-4G>A rs769559126 0.00001
NM_001848.3(COL6A1):c.2465-9G>A rs757270528 0.00001
NM_001848.3(COL6A1):c.2505C>T (p.Asp835=) rs569497612 0.00001
NM_001848.3(COL6A1):c.2518G>A (p.Val840Met) rs751124572 0.00001
NM_001848.3(COL6A1):c.2565G>A (p.Leu855=) rs1462765947 0.00001
NM_001848.3(COL6A1):c.2583A>T (p.Thr861=) rs151306374 0.00001
NM_001848.3(COL6A1):c.2592G>A (p.Arg864=) rs766279884 0.00001
NM_001848.3(COL6A1):c.2602G>A (p.Ala868Thr) rs574295337 0.00001
NM_001848.3(COL6A1):c.2608G>A (p.Asp870Asn) rs746305862 0.00001
NM_001848.3(COL6A1):c.2626G>A (p.Val876Met) rs573185206 0.00001
NM_001848.3(COL6A1):c.2637C>T (p.Ser879=) rs540554122 0.00001
NM_001848.3(COL6A1):c.2643G>A (p.Thr881=) rs372725624 0.00001
NM_001848.3(COL6A1):c.2670G>A (p.Ser890=) rs527265374 0.00001
NM_001848.3(COL6A1):c.2693C>T (p.Thr898Met) rs752473048 0.00001
NM_001848.3(COL6A1):c.269C>T (p.Ala90Val) rs766517983 0.00001
NM_001848.3(COL6A1):c.2710G>A (p.Val904Ile) rs375831680 0.00001
NM_001848.3(COL6A1):c.273G>A (p.Leu91=) rs759821375 0.00001
NM_001848.3(COL6A1):c.2773C>T (p.Arg925Cys) rs779199061 0.00001
NM_001848.3(COL6A1):c.2784C>T (p.Arg928=) rs775569169 0.00001
NM_001848.3(COL6A1):c.2792C>T (p.Ser931Leu) rs768598525 0.00001
NM_001848.3(COL6A1):c.2841G>A (p.Ser947=) rs768757964 0.00001
NM_001848.3(COL6A1):c.286G>A (p.Glu96Lys) rs759023976 0.00001
NM_001848.3(COL6A1):c.2885C>G (p.Ala962Gly) rs370391371 0.00001
NM_001848.3(COL6A1):c.2891G>A (p.Arg964Gln) rs794727580 0.00001
NM_001848.3(COL6A1):c.2896G>A (p.Gly966Ser) rs1224432118 0.00001
NM_001848.3(COL6A1):c.3012C>G (p.Phe1004Leu) rs1171160953 0.00001
NM_001848.3(COL6A1):c.3052C>T (p.His1018Tyr) rs2077865867 0.00001
NM_001848.3(COL6A1):c.3056A>G (p.Gln1019Arg) rs751518356 0.00001
NM_001848.3(COL6A1):c.3077C>T (p.Ala1026Val) rs767414809 0.00001
NM_001848.3(COL6A1):c.330C>T (p.Arg110=) rs564528164 0.00001
NM_001848.3(COL6A1):c.335C>T (p.Ala112Val) rs759880017 0.00001
NM_001848.3(COL6A1):c.338T>C (p.Leu113Pro) rs2077725343 0.00001
NM_001848.3(COL6A1):c.366C>T (p.Tyr122=) rs770744511 0.00001
NM_001848.3(COL6A1):c.393C>T (p.Cys131=) rs1020779562 0.00001
NM_001848.3(COL6A1):c.394G>A (p.Ala132Thr) rs1258934082 0.00001
NM_001848.3(COL6A1):c.454T>C (p.Tyr152His) rs1286529045 0.00001
NM_001848.3(COL6A1):c.532G>A (p.Glu178Lys) rs749929221 0.00001
NM_001848.3(COL6A1):c.588+10G>A rs890926408 0.00001
NM_001848.3(COL6A1):c.588+12_588+13insA rs398123637 0.00001
NM_001848.3(COL6A1):c.589-20A>T rs954477080 0.00001
NM_001848.3(COL6A1):c.596G>A (p.Arg199His) rs201213605 0.00001
NM_001848.3(COL6A1):c.5G>A (p.Arg2Lys) rs1305504243 0.00001
NM_001848.3(COL6A1):c.614C>T (p.Thr205Met) rs1343618467 0.00001
NM_001848.3(COL6A1):c.615G>A (p.Thr205=) rs192125814 0.00001
NM_001848.3(COL6A1):c.621C>A (p.His207Gln) rs866987981 0.00001
NM_001848.3(COL6A1):c.641C>T (p.Thr214Met) rs369123247 0.00001
NM_001848.3(COL6A1):c.642G>A (p.Thr214=) rs529325521 0.00001
NM_001848.3(COL6A1):c.650A>T (p.Asp217Val) rs1177728735 0.00001
NM_001848.3(COL6A1):c.664C>T (p.Arg222Cys) rs560001473 0.00001
NM_001848.3(COL6A1):c.670G>A (p.Ala224Thr) rs569642530 0.00001
NM_001848.3(COL6A1):c.680C>T (p.Ala227Val) rs770597799 0.00001
NM_001848.3(COL6A1):c.697G>A (p.Asp233Asn) rs1259945808 0.00001
NM_001848.3(COL6A1):c.717+1G>A rs113969925 0.00001
NM_001848.3(COL6A1):c.739-9C>T rs886057149 0.00001
NM_001848.3(COL6A1):c.776C>T (p.Pro259Leu) rs767905829 0.00001
NM_001848.3(COL6A1):c.784C>T (p.Arg262Trp) rs752259110 0.00001
NM_001848.3(COL6A1):c.79A>T (p.Arg27Trp) rs1031520613 0.00001
NM_001848.3(COL6A1):c.813A>G (p.Arg271=) rs748184568 0.00001
NM_001848.3(COL6A1):c.836A>G (p.Glu279Gly) rs1482699064 0.00001
NM_001848.3(COL6A1):c.858+15G>A rs763432919 0.00001
NM_001848.3(COL6A1):c.859-16_859-15insG rs764606641 0.00001
NM_001848.3(COL6A1):c.876C>T (p.Leu292=) rs746362485 0.00001
NM_001848.3(COL6A1):c.880C>G (p.Pro294Ala) rs141572895 0.00001
NM_001848.3(COL6A1):c.903+5G>A rs759468291 0.00001
NM_001848.3(COL6A1):c.903+9C>A rs765060192 0.00001
NM_001848.3(COL6A1):c.904-11T>G rs766924874 0.00001
NM_001848.3(COL6A1):c.904-13G>A rs756720407 0.00001
NM_001848.3(COL6A1):c.920G>A (p.Arg307His) rs145838277 0.00001
NM_001848.3(COL6A1):c.930+14G>A rs766551754 0.00001
NM_001848.3(COL6A1):c.931-6C>A rs778657187 0.00001
NM_001848.3(COL6A1):c.957+7G>A rs764488809 0.00001
NM_001848.3(COL6A1):c.958-18C>T rs774698729 0.00001
NM_001848.3(COL6A1):c.97+19T>C rs559717823 0.00001
NM_001849.4(COL6A2):c.1012C>T (p.Arg338Cys) rs775751831 0.00001
NM_001849.4(COL6A2):c.1021C>T (p.Pro341Ser) rs2078489585 0.00001
NM_001849.4(COL6A2):c.1053+9C>T rs781673478 0.00001
NM_001849.4(COL6A2):c.1054-10C>T rs1456017785 0.00001
NM_001849.4(COL6A2):c.1054-7C>T rs762738666 0.00001
NM_001849.4(COL6A2):c.1058C>T (p.Pro353Leu) rs767744331 0.00001
NM_001849.4(COL6A2):c.1059C>T (p.Pro353=) rs1381119779 0.00001
NM_001849.4(COL6A2):c.1067A>C (p.Tyr356Ser) rs1218992420 0.00001
NM_001849.4(COL6A2):c.1075G>A (p.Glu359Lys) rs1473389233 0.00001
NM_001849.4(COL6A2):c.1111G>A (p.Gly371Ser) rs768542626 0.00001
NM_001849.4(COL6A2):c.1116G>A (p.Lys372=) rs762160379 0.00001
NM_001849.4(COL6A2):c.1117-3C>T rs772428654 0.00001
NM_001849.4(COL6A2):c.1152G>A (p.Pro384=) rs148423929 0.00001
NM_001849.4(COL6A2):c.1162G>A (p.Gly388Arg) rs727503883 0.00001
NM_001849.4(COL6A2):c.1180-10C>T rs777782503 0.00001
NM_001849.4(COL6A2):c.1261G>A (p.Gly421Ser) rs1328612494 0.00001
NM_001849.4(COL6A2):c.1263C>T (p.Gly421=) rs778836612 0.00001
NM_001849.4(COL6A2):c.1269+20_1269+21dup rs762054025 0.00001
NM_001849.4(COL6A2):c.1277G>C (p.Arg426Thr) rs760573983 0.00001
NM_001849.4(COL6A2):c.1292C>T (p.Thr431Ile) rs1381049424 0.00001
NM_001849.4(COL6A2):c.12C>T (p.Gly4=) rs568730672 0.00001
NM_001849.4(COL6A2):c.1332+10C>T rs886042745 0.00001
NM_001849.4(COL6A2):c.1332+11G>A rs915604664 0.00001
NM_001849.4(COL6A2):c.1332+11G>C rs915604664 0.00001
NM_001849.4(COL6A2):c.1346C>G (p.Pro449Arg) rs886044030 0.00001
NM_001849.4(COL6A2):c.1356C>T (p.Pro452=) rs886044428 0.00001
NM_001849.4(COL6A2):c.1357C>T (p.Arg453Cys) rs781742477 0.00001
NM_001849.4(COL6A2):c.136C>T (p.His46Tyr) rs144735844 0.00001
NM_001849.4(COL6A2):c.1395+20C>T rs374032380 0.00001
NM_001849.4(COL6A2):c.1395+6G>A rs886042454 0.00001
NM_001849.4(COL6A2):c.1402C>A (p.Arg468=) rs374669775 0.00001
NM_001849.4(COL6A2):c.1402C>T (p.Arg468Ter) rs374669775 0.00001
NM_001849.4(COL6A2):c.1403G>A (p.Arg468Gln) rs746541506 0.00001
NM_001849.4(COL6A2):c.1405G>A (p.Gly469Ser) rs369945453 0.00001
NM_001849.4(COL6A2):c.1427C>A (p.Pro476His) rs200482836 0.00001
NM_001849.4(COL6A2):c.1440T>C (p.Leu480=) rs774677437 0.00001
NM_001849.4(COL6A2):c.1458+3C>T rs794727186 0.00001
NM_001849.4(COL6A2):c.1463C>T (p.Ser488Phe) rs755539822 0.00001
NM_001849.4(COL6A2):c.1476C>T (p.Pro492=) rs772436808 0.00001
NM_001849.4(COL6A2):c.1477G>A (p.Gly493Ser) rs553174831 0.00001
NM_001849.4(COL6A2):c.1498G>C (p.Asp500His) rs770222615 0.00001
NM_001849.4(COL6A2):c.1521+10C>G rs753385303 0.00001
NM_001849.4(COL6A2):c.1521+5G>A rs760353646 0.00001
NM_001849.4(COL6A2):c.1522-12G>A rs770511180 0.00001
NM_001849.4(COL6A2):c.1530C>T (p.Pro510=) rs199842179 0.00001
NM_001849.4(COL6A2):c.1550A>C (p.Tyr517Ser) rs780177226 0.00001
NM_001849.4(COL6A2):c.1554A>G (p.Pro518=) rs779424467 0.00001
NM_001849.4(COL6A2):c.1562G>A (p.Arg521Gln) rs367693258 0.00001
NM_001849.4(COL6A2):c.1572C>T (p.Pro524=) rs552356380 0.00001
NM_001849.4(COL6A2):c.1591G>A (p.Gly531Ser) rs778364096 0.00001
NM_001849.4(COL6A2):c.1596A>G (p.Pro532=) rs1337532842 0.00001
NM_001849.4(COL6A2):c.1600G>A (p.Gly534Ser) rs1307667500 0.00001
NM_001849.4(COL6A2):c.1608+17G>A rs748591526 0.00001
NM_001849.4(COL6A2):c.1609-17T>C rs1188602280 0.00001
NM_001849.4(COL6A2):c.1609-20A>G rs1291554758 0.00001
NM_001849.4(COL6A2):c.1609-7G>A rs555312732 0.00001
NM_001849.4(COL6A2):c.1615C>T (p.Arg539Ter) rs749593004 0.00001
NM_001849.4(COL6A2):c.1620C>T (p.Gly540=) rs774587547 0.00001
NM_001849.4(COL6A2):c.1673C>T (p.Ala558Val) rs376303610 0.00001
NM_001849.4(COL6A2):c.1683T>C (p.Gly561=) rs564536740 0.00001
NM_001849.4(COL6A2):c.1685C>T (p.Pro562Leu) rs370775804 0.00001
NM_001849.4(COL6A2):c.1731C>T (p.Pro577=) rs189470660 0.00001
NM_001849.4(COL6A2):c.1734+14C>T rs886057167 0.00001
NM_001849.4(COL6A2):c.1735-14C>T rs762776002 0.00001
NM_001849.4(COL6A2):c.1744G>A (p.Gly582Ser) rs750533442 0.00001
NM_001849.4(COL6A2):c.1746C>T (p.Gly582=) rs1158803111 0.00001
NM_001849.4(COL6A2):c.1748C>G (p.Pro583Arg) rs917875281 0.00001
NM_001849.4(COL6A2):c.1752T>C (p.Pro584=) rs1422175519 0.00001
NM_001849.4(COL6A2):c.1770+11C>T rs755518889 0.00001
NM_001849.4(COL6A2):c.1770+18C>T rs1040827784 0.00001
NM_001849.4(COL6A2):c.1801A>G (p.Thr601Ala) rs1487977724 0.00001
NM_001849.4(COL6A2):c.1806C>T (p.Cys602=) rs751987553 0.00001
NM_001849.4(COL6A2):c.1811G>A (p.Cys604Tyr) rs1420375071 0.00001
NM_001849.4(COL6A2):c.1815C>T (p.Cys605=) rs778401356 0.00001
NM_001849.4(COL6A2):c.1816+9C>T rs1456625954 0.00001
NM_001849.4(COL6A2):c.1817-7_1817-6insA rs759572010 0.00001
NM_001849.4(COL6A2):c.1846G>A (p.Val616Met) rs746193653 0.00001
NM_001849.4(COL6A2):c.1854C>T (p.Phe618=) rs770024474 0.00001
NM_001849.4(COL6A2):c.1860C>T (p.Ile620=) rs367857478 0.00001
NM_001849.4(COL6A2):c.1870G>A (p.Glu624Lys) rs387906607 0.00001
NM_001849.4(COL6A2):c.1877T>C (p.Ile626Thr) rs766374821 0.00001
NM_001849.4(COL6A2):c.1887C>T (p.Thr629=) rs758542107 0.00001
NM_001849.4(COL6A2):c.1912G>A (p.Val638Ile) rs554113319 0.00001
NM_001849.4(COL6A2):c.1921G>A (p.Val641Met) rs1032420539 0.00001
NM_001849.4(COL6A2):c.1925T>C (p.Val642Ala) rs760227367 0.00001
NM_001849.4(COL6A2):c.1970-16C>T rs370331777 0.00001
NM_001849.4(COL6A2):c.1973C>T (p.Thr658Met) rs758788067 0.00001
NM_001849.4(COL6A2):c.1989G>A (p.Val663=) rs944558259 0.00001
NM_001849.4(COL6A2):c.2002G>A (p.Glu668Lys) rs138948335 0.00001
NM_001849.4(COL6A2):c.2019C>T (p.Ala673=) rs771823896 0.00001
NM_001849.4(COL6A2):c.2031C>T (p.Asp677=) rs759646708 0.00001
NM_001849.4(COL6A2):c.2035G>A (p.Glu679Lys) rs763502626 0.00001
NM_001849.4(COL6A2):c.207C>T (p.His69=) rs754275746 0.00001
NM_001849.4(COL6A2):c.2082C>T (p.Leu694=) rs763384399 0.00001
NM_001849.4(COL6A2):c.2099G>A (p.Gly700Asp) rs2078657536 0.00001
NM_001849.4(COL6A2):c.2118C>T (p.Ala706=) rs759188267 0.00001
NM_001849.4(COL6A2):c.2121C>G (p.Leu707=) rs764727296 0.00001
NM_001849.4(COL6A2):c.2133C>T (p.Tyr711=) rs531816975 0.00001
NM_001849.4(COL6A2):c.2137C>T (p.Arg713Cys) rs139627965 0.00001
NM_001849.4(COL6A2):c.2138G>T (p.Arg713Leu) rs746159648 0.00001
NM_001849.4(COL6A2):c.2154C>T (p.Ser718=) rs1345626063 0.00001
NM_001849.4(COL6A2):c.2166G>A (p.Lys722=) rs930056910 0.00001
NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg) rs886042922 0.00001
NM_001849.4(COL6A2):c.2201G>A (p.Arg734His) rs749451502 0.00001
NM_001849.4(COL6A2):c.2221G>A (p.Asp741Asn) rs1348937334 0.00001
NM_001849.4(COL6A2):c.2237C>T (p.Ala746Val) rs761863452 0.00001
NM_001849.4(COL6A2):c.224C>T (p.Pro75Leu) rs750009012 0.00001
NM_001849.4(COL6A2):c.2265G>A (p.Thr755=) rs367994212 0.00001
NM_001849.4(COL6A2):c.2272G>A (p.Gly758Ser) rs773338647 0.00001
NM_001849.4(COL6A2):c.2298G>A (p.Lys766=) rs1487961328 0.00001
NM_001849.4(COL6A2):c.2363T>C (p.Leu788Pro) rs982360912 0.00001
NM_001849.4(COL6A2):c.2394C>T (p.Ile798=) rs756575729 0.00001
NM_001849.4(COL6A2):c.2401A>G (p.Met801Val) rs202155540 0.00001
NM_001849.4(COL6A2):c.2402T>G (p.Met801Arg) rs727502834 0.00001
NM_001849.4(COL6A2):c.2412C>T (p.Val804=) rs909940106 0.00001
NM_001849.4(COL6A2):c.2421G>A (p.Pro807=) rs774494973 0.00001
NM_001849.4(COL6A2):c.2423-18C>T rs866625140 0.00001
NM_001849.4(COL6A2):c.2425C>T (p.Pro809Ser) rs1044778936 0.00001
NM_001849.4(COL6A2):c.2433C>T (p.Ile811=) rs776788517 0.00001
NM_001849.4(COL6A2):c.2434G>A (p.Val812Met) rs746393019 0.00001
NM_001849.4(COL6A2):c.2435T>C (p.Val812Ala) rs886044025 0.00001
NM_001849.4(COL6A2):c.2441C>T (p.Pro814Leu) rs775748752 0.00001
NM_001849.4(COL6A2):c.2457A>G (p.Gln819=) rs201518654 0.00001
NM_001849.4(COL6A2):c.2461+11G>A rs200484565 0.00001
NM_001849.4(COL6A2):c.2465T>C (p.Leu822Pro) rs1243558040 0.00001
NM_001849.4(COL6A2):c.2480G>A (p.Cys827Tyr) rs11554667 0.00001
NM_001849.4(COL6A2):c.2483C>T (p.Thr828Met) rs755782924 0.00001
NM_001849.4(COL6A2):c.2496G>A (p.Val832=) rs567775494 0.00001
NM_001849.4(COL6A2):c.2508C>A (p.Phe836Leu) rs727502835 0.00001
NM_001849.4(COL6A2):c.250G>A (p.Glu84Lys) rs932129947 0.00001
NM_001849.4(COL6A2):c.2514G>A (p.Leu838=) rs377389081 0.00001
NM_001849.4(COL6A2):c.2560C>T (p.Arg854Cys) rs775590810 0.00001
NM_001849.4(COL6A2):c.2561G>A (p.Arg854His) rs201035005 0.00001
NM_001849.4(COL6A2):c.2581C>T (p.Arg861Trp) rs752291709 0.00001
NM_001849.4(COL6A2):c.2590A>T (p.Thr864Ser) rs780908409 0.00001
NM_001849.4(COL6A2):c.2611G>A (p.Asp871Asn) rs387906610 0.00001
NM_001849.4(COL6A2):c.2614C>T (p.Pro872Ser) rs1228163562 0.00001
NM_001849.4(COL6A2):c.2640G>A (p.Leu880=) rs546825359 0.00001
NM_001849.4(COL6A2):c.2663A>G (p.Gln888Arg) rs750318665 0.00001
NM_001849.4(COL6A2):c.2696C>T (p.Thr899Met) rs771341779 0.00001
NM_001849.4(COL6A2):c.2704C>A (p.His902Asn) rs773974101 0.00001
NM_001849.4(COL6A2):c.2713C>T (p.Leu905=) rs753611948 0.00001
NM_001849.4(COL6A2):c.272C>T (p.Ala91Val) rs201842315 0.00001
NM_001849.4(COL6A2):c.2741T>C (p.Phe914Ser) rs1337272208 0.00001
NM_001849.4(COL6A2):c.2742C>T (p.Phe914=) rs747734639 0.00001
NM_001849.4(COL6A2):c.2760C>T (p.Gly920=) rs751630559 0.00001
NM_001849.4(COL6A2):c.2766G>A (p.Val922=) rs557446829 0.00001
NM_001849.4(COL6A2):c.2781C>T (p.Ala927=) rs776437060 0.00001
NM_001849.4(COL6A2):c.2804G>A (p.Gly935Glu) rs780505425 0.00001
NM_001849.4(COL6A2):c.2809C>T (p.Arg937Trp) rs755352246 0.00001
NM_001849.4(COL6A2):c.2832C>T (p.Phe944=) rs912421199 0.00001
NM_001849.4(COL6A2):c.2851_2852del (p.Val951fs) rs762385362 0.00001
NM_001849.4(COL6A2):c.2853C>A (p.Val951=) rs745419873 0.00001
NM_001849.4(COL6A2):c.2862C>T (p.Asn954=) rs761975390 0.00001
NM_001849.4(COL6A2):c.2879C>T (p.Ser960Leu) rs750097119 0.00001
NM_001849.4(COL6A2):c.287A>G (p.Tyr96Cys) rs2078408746 0.00001
NM_001849.4(COL6A2):c.2891T>C (p.Met964Thr) rs1427750922 0.00001
NM_001849.4(COL6A2):c.2898G>A (p.Lys966=) rs759502409 0.00001
NM_001849.4(COL6A2):c.2923G>A (p.Ala975Thr) rs777494468 0.00001
NM_001849.4(COL6A2):c.2929G>A (p.Gly977Ser) rs370593484 0.00001
NM_001849.4(COL6A2):c.2946G>A (p.Met982Ile) rs753423696 0.00001
NM_001849.4(COL6A2):c.2948A>T (p.Asp983Val) rs754518986 0.00001
NM_001849.4(COL6A2):c.2988G>A (p.Val996=) rs1221541120 0.00001
NM_001849.4(COL6A2):c.2991C>G (p.Phe997Leu) rs1555877365 0.00001
NM_001849.4(COL6A2):c.3000G>A (p.Lys1000=) rs780794521 0.00001
NM_001849.4(COL6A2):c.3001G>A (p.Asp1001Asn) rs750682710 0.00001
NM_001849.4(COL6A2):c.3026G>T (p.Gly1009Val) rs1157175258 0.00001
NM_001849.4(COL6A2):c.3029T>G (p.Phe1010Cys) rs1051148162 0.00001
NM_001849.4(COL6A2):c.3038G>A (p.Arg1013His) rs751512548 0.00001
NM_001849.4(COL6A2):c.3060_*2dup (p.Ter1020=) rs751470018 0.00001
NM_001849.4(COL6A2):c.315G>A (p.Val105=) rs1467107121 0.00001
NM_001849.4(COL6A2):c.335G>A (p.Gly112Asp) rs776732203 0.00001
NM_001849.4(COL6A2):c.33C>G (p.Leu11=) rs765568801 0.00001
NM_001849.4(COL6A2):c.340G>A (p.Asp114Asn) rs969934621 0.00001
NM_001849.4(COL6A2):c.388C>T (p.Arg130Cys) rs557545831 0.00001
NM_001849.4(COL6A2):c.389G>A (p.Arg130His) rs200387819 0.00001
NM_001849.4(COL6A2):c.390C>T (p.Arg130=) rs544610322 0.00001
NM_001849.4(COL6A2):c.408C>T (p.Cys136=) rs745970130 0.00001
NM_001849.4(COL6A2):c.410C>T (p.Ala137Val) rs886044462 0.00001
NM_001849.4(COL6A2):c.416C>A (p.Ala139Asp) rs749711324 0.00001
NM_001849.4(COL6A2):c.459C>T (p.Thr153=) rs764014106 0.00001
NM_001849.4(COL6A2):c.468C>T (p.Phe156=) rs144117982 0.00001
NM_001849.4(COL6A2):c.469G>A (p.Ala157Thr) rs756242788 0.00001
NM_001849.4(COL6A2):c.479T>C (p.Ile160Thr) rs1454146707 0.00001
NM_001849.4(COL6A2):c.493G>A (p.Val165Ile) rs886044102 0.00001
NM_001849.4(COL6A2):c.498C>T (p.Thr166=) rs762436629 0.00001
NM_001849.4(COL6A2):c.550G>T (p.Gly184Cys) rs766523982 0.00001
NM_001849.4(COL6A2):c.576C>T (p.Pro192=) rs757571306 0.00001
NM_001849.4(COL6A2):c.623C>T (p.Pro208Leu) rs559666084 0.00001
NM_001849.4(COL6A2):c.62A>G (p.Gln21Arg) rs751632108 0.00001
NM_001849.4(COL6A2):c.664G>A (p.Asp222Asn) rs776631856 0.00001
NM_001849.4(COL6A2):c.681C>G (p.Asp227Glu) rs1355259368 0.00001
NM_001849.4(COL6A2):c.694A>G (p.Asn232Asp) rs779287707 0.00001
NM_001849.4(COL6A2):c.697C>T (p.Arg233Cys) rs1379543505 0.00001
NM_001849.4(COL6A2):c.709G>A (p.Val237Ile) rs752359061 0.00001
NM_001849.4(COL6A2):c.714+14G>A rs781213927 0.00001
NM_001849.4(COL6A2):c.715A>G (p.Lys239Glu) rs777108595 0.00001
NM_001849.4(COL6A2):c.726C>T (p.Ala242=) rs767184248 0.00001
NM_001849.4(COL6A2):c.728A>G (p.Tyr243Cys) rs1159588931 0.00001
NM_001849.4(COL6A2):c.730G>A (p.Gly244Arg) rs199806576 0.00001
NM_001849.4(COL6A2):c.805G>A (p.Ala269Thr) rs1354826916 0.00001
NM_001849.4(COL6A2):c.864G>A (p.Pro288=) rs375307603 0.00001
NM_001849.4(COL6A2):c.901-3C>T rs112317259 0.00001
NM_001849.4(COL6A2):c.924G>A (p.Glu308=) rs142674726 0.00001
NM_001849.4(COL6A2):c.943G>A (p.Asp315Asn) rs759838639 0.00001
NM_001849.4(COL6A2):c.946G>A (p.Gly316Ser) rs762882543 0.00001
NM_001849.4(COL6A2):c.951C>T (p.Arg317=) rs369190399 0.00001
NM_001849.4(COL6A2):c.955-10C>T rs751105293 0.00001
NM_001849.4(COL6A2):c.955-17C>T rs372393202 0.00001
NM_001849.4(COL6A2):c.955-6C>T rs781214021 0.00001
NM_001849.4(COL6A2):c.978G>A (p.Lys326=) rs1480541163 0.00001
NM_001849.4(COL6A2):c.982G>A (p.Gly328Arg) rs779867653 0.00001
NM_001849.4(COL6A2):c.987C>T (p.Thr329=) rs748215430 0.00001
NM_001849.4(COL6A2):c.999+7G>A rs199783099 0.00001
NM_002206.3(ITGA7):c.100T>C (p.Phe34Leu) rs762727134 0.00001
NM_002206.3(ITGA7):c.1039C>T (p.Arg347Cys) rs569613714 0.00001
NM_002206.3(ITGA7):c.1086G>T (p.Gly362=) rs773472615 0.00001
NM_002206.3(ITGA7):c.1091A>T (p.His364Leu) rs772387657 0.00001
NM_002206.3(ITGA7):c.1110T>G (p.Pro370=) rs746695468 0.00001
NM_002206.3(ITGA7):c.1122C>T (p.Cys374=) rs374967020 0.00001
NM_002206.3(ITGA7):c.1139T>C (p.Met380Thr) rs762078003 0.00001
NM_002206.3(ITGA7):c.1192+8G>A rs747755175 0.00001
NM_002206.3(ITGA7):c.1217A>G (p.Asp406Gly) rs1298211326 0.00001
NM_002206.3(ITGA7):c.1237A>G (p.Ile413Val) rs17857367 0.00001
NM_002206.3(ITGA7):c.1244A>G (p.His415Arg) rs1355871507 0.00001
NM_002206.3(ITGA7):c.1256T>C (p.Leu419Pro) rs757970045 0.00001
NM_002206.3(ITGA7):c.1267G>A (p.Ala423Thr) rs779666592 0.00001
NM_002206.3(ITGA7):c.1282-4C>G rs534961736 0.00001
NM_002206.3(ITGA7):c.128G>T (p.Arg43Leu) rs794726901 0.00001
NM_002206.3(ITGA7):c.1293C>T (p.Gly431=) rs757453079 0.00001
NM_002206.3(ITGA7):c.1409+11C>T rs748472564 0.00001
NM_002206.3(ITGA7):c.1409+7C>G rs974347459 0.00001
NM_002206.3(ITGA7):c.1422C>T (p.Ile474=) rs1398913487 0.00001
NM_002206.3(ITGA7):c.1430T>A (p.Val477Asp) rs1275770988 0.00001
NM_002206.3(ITGA7):c.1437T>G (p.His479Gln) rs377143386 0.00001
NM_002206.3(ITGA7):c.1495C>T (p.His499Tyr) rs376759983 0.00001
NM_002206.3(ITGA7):c.1511A>G (p.Asp504Gly) rs750220462 0.00001
NM_002206.3(ITGA7):c.1567+3G>T rs1488666622 0.00001
NM_002206.3(ITGA7):c.1600C>T (p.Arg534Trp) rs780868817 0.00001
NM_002206.3(ITGA7):c.1610G>A (p.Arg537Gln) rs752569950 0.00001
NM_002206.3(ITGA7):c.1642C>T (p.Arg548Cys) rs146411608 0.00001
NM_002206.3(ITGA7):c.1643G>A (p.Arg548His) rs746596659 0.00001
NM_002206.3(ITGA7):c.1710C>G (p.Val570=) rs1271639727 0.00001
NM_002206.3(ITGA7):c.172C>T (p.Leu58=) rs749604747 0.00001
NM_002206.3(ITGA7):c.1737+14C>A rs891075590 0.00001
NM_002206.3(ITGA7):c.1738-8C>G rs765976001 0.00001
NM_002206.3(ITGA7):c.1759C>T (p.Arg587Trp) rs139024853 0.00001
NM_002206.3(ITGA7):c.1771G>A (p.Val591Met) rs774213412 0.00001
NM_002206.3(ITGA7):c.1819C>T (p.Pro607Ser) rs139663941 0.00001
NM_002206.3(ITGA7):c.1823G>T (p.Gly608Val) rs765710345 0.00001
NM_002206.3(ITGA7):c.1897C>G (p.Leu633Val) rs1055134100 0.00001
NM_002206.3(ITGA7):c.193C>A (p.Arg65=) rs17854602 0.00001
NM_002206.3(ITGA7):c.1951C>T (p.Arg651Cys) rs1171244321 0.00001
NM_002206.3(ITGA7):c.1953C>T (p.Arg651=) rs751065767 0.00001
NM_002206.3(ITGA7):c.1957C>T (p.Arg653Cys) rs1051135124 0.00001
NM_002206.3(ITGA7):c.1969C>T (p.Arg657Trp) rs528020122 0.00001
NM_002206.3(ITGA7):c.1977C>T (p.Ser659=) rs772181715 0.00001
NM_002206.3(ITGA7):c.1983G>A (p.Thr661=) rs200362287 0.00001
NM_002206.3(ITGA7):c.2003+6G>C rs577585789 0.00001
NM_002206.3(ITGA7):c.2006A>G (p.Asp669Gly) rs529009372 0.00001
NM_002206.3(ITGA7):c.205T>G (p.Trp69Gly) rs1875458381 0.00001
NM_002206.3(ITGA7):c.2098C>T (p.Gln700Ter) rs147648235 0.00001
NM_002206.3(ITGA7):c.2136G>C (p.Gln712His) rs373231582 0.00001
NM_002206.3(ITGA7):c.214G>C (p.Val72Leu) rs766173576 0.00001
NM_002206.3(ITGA7):c.2197-7A>G rs745457853 0.00001
NM_002206.3(ITGA7):c.2217C>T (p.Ser739=) rs746986308 0.00001
NM_002206.3(ITGA7):c.2220T>C (p.Asn740=) rs1592432574 0.00001
NM_002206.3(ITGA7):c.2278G>A (p.Val760Ile) rs773004449 0.00001
NM_002206.3(ITGA7):c.2327C>T (p.Thr776Met) rs1872184486 0.00001
NM_002206.3(ITGA7):c.2328G>A (p.Thr776=) rs369566439 0.00001
NM_002206.3(ITGA7):c.2346G>A (p.Leu782=) rs376433899 0.00001
NM_002206.3(ITGA7):c.2357+10G>A rs1555160977 0.00001
NM_002206.3(ITGA7):c.2358-4C>T rs1173725390 0.00001
NM_002206.3(ITGA7):c.2359A>T (p.Ile787Phe) rs1307621254 0.00001
NM_002206.3(ITGA7):c.2392C>T (p.Arg798Ter) rs755438542 0.00001
NM_002206.3(ITGA7):c.2393G>A (p.Arg798Gln) rs923021284 0.00001
NM_002206.3(ITGA7):c.2409T>C (p.Ile803=) rs1232500854 0.00001
NM_002206.3(ITGA7):c.2412G>T (p.Glu804Asp) rs775379371 0.00001
NM_002206.3(ITGA7):c.2470G>T (p.Val824Leu) rs763739936 0.00001
NM_002206.3(ITGA7):c.2476G>A (p.Gly826Ser) rs761965919 0.00001
NM_002206.3(ITGA7):c.247C>T (p.Gln83Ter) rs1055839662 0.00001
NM_002206.3(ITGA7):c.2535+5G>C rs754770500 0.00001
NM_002206.3(ITGA7):c.2536-6C>G rs779656440 0.00001
NM_002206.3(ITGA7):c.2536-8T>C rs753697864 0.00001
NM_002206.3(ITGA7):c.2555C>T (p.Ser852Leu) rs764412210 0.00001
NM_002206.3(ITGA7):c.2567T>C (p.Leu856Pro) rs1403426045 0.00001
NM_002206.3(ITGA7):c.2656G>A (p.Gly886Arg) rs764017834 0.00001
NM_002206.3(ITGA7):c.2712+10A>T rs879248530 0.00001
NM_002206.3(ITGA7):c.2779C>T (p.Arg927Trp) rs760407686 0.00001
NM_002206.3(ITGA7):c.277G>A (p.Ala93Thr) rs777338785 0.00001
NM_002206.3(ITGA7):c.2780G>A (p.Arg927Gln) rs200712509 0.00001
NM_002206.3(ITGA7):c.283C>G (p.Pro95Ala) rs940540167 0.00001
NM_002206.3(ITGA7):c.2843T>C (p.Leu948Pro) rs1207536526 0.00001
NM_002206.3(ITGA7):c.2851G>A (p.Ala951Thr) rs778278404 0.00001
NM_002206.3(ITGA7):c.2854C>T (p.Arg952Trp) rs758865138 0.00001
NM_002206.3(ITGA7):c.2862G>A (p.Thr954=) rs373439927 0.00001
NM_002206.3(ITGA7):c.2876T>C (p.Val959Ala) rs139858869 0.00001
NM_002206.3(ITGA7):c.2905C>T (p.Arg969Cys) rs17857368 0.00001
NM_002206.3(ITGA7):c.2908G>A (p.Ala970Thr) rs767472988 0.00001
NM_002206.3(ITGA7):c.2917C>A (p.Leu973Met) rs778047540 0.00001
NM_002206.3(ITGA7):c.2924T>C (p.Val975Ala) rs748642428 0.00001
NM_002206.3(ITGA7):c.2958+15C>T rs768792172 0.00001
NM_002206.3(ITGA7):c.2958+9A>G rs1382710214 0.00001
NM_002206.3(ITGA7):c.2983G>A (p.Glu995Lys) rs765253422 0.00001
NM_002206.3(ITGA7):c.29G>T (p.Trp10Leu) rs775325159 0.00001
NM_002206.3(ITGA7):c.3040C>T (p.Arg1014Ter) rs377510220 0.00001
NM_002206.3(ITGA7):c.3057+8G>A rs149798650 0.00001
NM_002206.3(ITGA7):c.3064G>C (p.Val1022Leu) rs1292181810 0.00001
NM_002206.3(ITGA7):c.307T>A (p.Cys103Ser) rs779677072 0.00001
NM_002206.3(ITGA7):c.3118G>T (p.Val1040Phe) rs764565180 0.00001
NM_002206.3(ITGA7):c.3160C>T (p.Leu1054=) rs779766907 0.00001
NM_002206.3(ITGA7):c.3204G>A (p.Ala1068=) rs759134989 0.00001
NM_002206.3(ITGA7):c.3223G>A (p.Val1075Met) rs375842647 0.00001
NM_002206.3(ITGA7):c.3233A>G (p.Tyr1078Cys) rs1351426569 0.00001
NM_002206.3(ITGA7):c.3236A>G (p.His1079Arg) rs749520789 0.00001
NM_002206.3(ITGA7):c.3237T>C (p.His1079=) rs756477823 0.00001
NM_002206.3(ITGA7):c.3323G>A (p.Arg1108Gln) rs201709662 0.00001
NM_002206.3(ITGA7):c.3325C>T (p.Arg1109Trp) rs117803261 0.00001
NM_002206.3(ITGA7):c.3336G>A (p.Pro1112=) rs1473457136 0.00001
NM_002206.3(ITGA7):c.3342A>C (p.Ala1114=) rs1053757337 0.00001
NM_002206.3(ITGA7):c.3353T>C (p.Leu1118Pro) rs1321072683 0.00001
NM_002206.3(ITGA7):c.3396A>G (p.Pro1132=) rs943636312 0.00001
NM_002206.3(ITGA7):c.3405C>G (p.Gly1135=) rs1869761757 0.00001
NM_002206.3(ITGA7):c.341T>C (p.Met114Thr) rs761095619 0.00001
NM_002206.3(ITGA7):c.410T>C (p.Ile137Thr) rs780832051 0.00001
NM_002206.3(ITGA7):c.415-19C>T rs772057526 0.00001
NM_002206.3(ITGA7):c.415-5C>T rs1382822280 0.00001
NM_002206.3(ITGA7):c.428G>A (p.Arg143Gln) rs537937026 0.00001
NM_002206.3(ITGA7):c.432T>C (p.Tyr144=) rs1269569892 0.00001
NM_002206.3(ITGA7):c.446G>A (p.Arg149Gln) rs758978382 0.00001
NM_002206.3(ITGA7):c.470G>A (p.Arg157Gln) rs867646342 0.00001
NM_002206.3(ITGA7):c.508C>T (p.Leu170=) rs913850889 0.00001
NM_002206.3(ITGA7):c.558A>G (p.Gly186=) rs552091036 0.00001
NM_002206.3(ITGA7):c.644G>A (p.Gly215Glu) rs928072732 0.00001
NM_002206.3(ITGA7):c.648C>T (p.Ala216=) rs1250879059 0.00001
NM_002206.3(ITGA7):c.670+13T>C rs1408330105 0.00001
NM_002206.3(ITGA7):c.670+14C>T rs374847926 0.00001
NM_002206.3(ITGA7):c.671-10C>T rs1355243416 0.00001
NM_002206.3(ITGA7):c.709G>A (p.Asp237Asn) rs754762899 0.00001
NM_002206.3(ITGA7):c.751C>T (p.Pro251Ser) rs781039935 0.00001
NM_002206.3(ITGA7):c.777C>T (p.Leu259=) rs200591528 0.00001
NM_002206.3(ITGA7):c.783C>T (p.Ser261=) rs143583891 0.00001
NM_002206.3(ITGA7):c.7G>A (p.Gly3Arg) rs544939783 0.00001
NM_002206.3(ITGA7):c.820G>A (p.Val274Met) rs772161897 0.00001
NM_002206.3(ITGA7):c.883G>C (p.Val295Leu) rs781541108 0.00001
NM_002206.3(ITGA7):c.904G>A (p.Ala302Thr) rs750041574 0.00001
NM_002206.3(ITGA7):c.942G>A (p.Glu314=) rs1297332914 0.00001
NM_002206.3(ITGA7):c.998+11A>G rs1180308671 0.00001
NM_002206.3(ITGA7):c.998+18C>T rs370001763 0.00001
NM_002206.3(ITGA7):c.999-10C>T rs372202806 0.00001
NM_003863.3(DPM2):c.-208G>A rs1290789503 0.00001
NM_003863.3(DPM2):c.-88C>T rs886063484 0.00001
NM_003863.4(DPM2):c.*14A>T rs1352343761 0.00001
NM_003863.4(DPM2):c.*529G>A rs926580610 0.00001
NM_003863.4(DPM2):c.107G>A (p.Ser36Asn) rs771463310 0.00001
NM_003863.4(DPM2):c.114T>C (p.His38=) rs1482824230 0.00001
NM_003863.4(DPM2):c.124A>G (p.Lys42Glu) rs370170911 0.00001
NM_003863.4(DPM2):c.127T>C (p.Tyr43His) rs1275174624 0.00001
NM_003863.4(DPM2):c.144C>T (p.Ala48=) rs779110103 0.00001
NM_003863.4(DPM2):c.145T>A (p.Tyr49Asn) rs755055369 0.00001
NM_003863.4(DPM2):c.184C>G (p.Leu62Val) rs766817693 0.00001
NM_003863.4(DPM2):c.197-9_197-8insA rs1314437874 0.00001
NM_003863.4(DPM2):c.208T>G (p.Ser70Ala) rs759597928 0.00001
NM_003863.4(DPM2):c.3+5G>A rs1333396682 0.00001
NM_003863.4(DPM2):c.33C>T (p.Leu11=) rs781596486 0.00001
NM_003863.4(DPM2):c.93+13C>A rs772691262 0.00001
NM_003863.4(DPM2):c.94-8G>T rs773731630 0.00001
NM_004369.4(COL6A3):c.1006C>T (p.Arg336Trp) rs200720222 0.00001
NM_004369.4(COL6A3):c.1007G>A (p.Arg336Gln) rs745667305 0.00001
NM_004369.4(COL6A3):c.1022G>A (p.Arg341His) rs140510298 0.00001
NM_004369.4(COL6A3):c.1023C>T (p.Arg341=) rs779564611 0.00001
NM_004369.4(COL6A3):c.1045G>A (p.Val349Met) rs1464663206 0.00001
NM_004369.4(COL6A3):c.1061G>A (p.Ser354Asn) rs1416475329 0.00001
NM_004369.4(COL6A3):c.1066G>A (p.Gly356Arg) rs200795795 0.00001
NM_004369.4(COL6A3):c.1075A>G (p.Ser359Gly) rs114235473 0.00001
NM_004369.4(COL6A3):c.107C>T (p.Ala36Val) rs572020866 0.00001
NM_004369.4(COL6A3):c.1080C>T (p.Asp360=) rs762463347 0.00001
NM_004369.4(COL6A3):c.1093G>A (p.Gly365Arg) rs778069171 0.00001
NM_004369.4(COL6A3):c.1147G>A (p.Ala383Thr) rs146429448 0.00001
NM_004369.4(COL6A3):c.1149C>T (p.Ala383=) rs139016980 0.00001
NM_004369.4(COL6A3):c.1152C>A (p.Ala384=) rs1207676038 0.00001
NM_004369.4(COL6A3):c.117T>C (p.Asp39=) rs1574757082 0.00001
NM_004369.4(COL6A3):c.1268C>T (p.Ala423Val) rs181264679 0.00001
NM_004369.4(COL6A3):c.1356C>T (p.Gly452=) rs761005162 0.00001
NM_004369.4(COL6A3):c.1370G>T (p.Gly457Val) rs377757978 0.00001
NM_004369.4(COL6A3):c.1380C>G (p.Asn460Lys) rs779588195 0.00001
NM_004369.4(COL6A3):c.13C>T (p.Arg5Trp) rs752738273 0.00001
NM_004369.4(COL6A3):c.1415T>C (p.Ile472Thr) rs757316442 0.00001
NM_004369.4(COL6A3):c.1432G>A (p.Gly478Arg) rs777693832 0.00001
NM_004369.4(COL6A3):c.1502C>T (p.Thr501Ile) rs776324215 0.00001
NM_004369.4(COL6A3):c.1534G>A (p.Val512Met) rs1386395959 0.00001
NM_004369.4(COL6A3):c.154G>A (p.Glu52Lys) rs188510971 0.00001
NM_004369.4(COL6A3):c.1559G>C (p.Gly520Ala) rs770496206 0.00001
NM_004369.4(COL6A3):c.1563G>A (p.Ser521=) rs773149146 0.00001
NM_004369.4(COL6A3):c.1570T>C (p.Tyr524His) rs993649247 0.00001
NM_004369.4(COL6A3):c.1576G>A (p.Gly526Ser) rs780262157 0.00001
NM_004369.4(COL6A3):c.1583C>T (p.Ala528Val) rs756181209 0.00001
NM_004369.4(COL6A3):c.1587A>G (p.Leu529=) rs574912582 0.00001
NM_004369.4(COL6A3):c.1620A>G (p.Ser540=) rs200205650 0.00001
NM_004369.4(COL6A3):c.1624G>A (p.Gly542Ser) rs756045079 0.00001
NM_004369.4(COL6A3):c.1627T>C (p.Tyr543His) rs539057609 0.00001
NM_004369.4(COL6A3):c.1639G>A (p.Glu547Lys) rs1278327904 0.00001
NM_004369.4(COL6A3):c.163T>G (p.Phe55Val) rs753189030 0.00001
NM_004369.4(COL6A3):c.1669A>G (p.Thr557Ala) rs1362702190 0.00001
NM_004369.4(COL6A3):c.1727G>A (p.Ser576Asn) rs1291470412 0.00001
NM_004369.4(COL6A3):c.1759G>T (p.Ala587Ser) rs2077990679 0.00001
NM_004369.4(COL6A3):c.1762G>A (p.Asp588Asn) rs886043408 0.00001
NM_004369.4(COL6A3):c.1770T>C (p.Ala590=) rs774234847 0.00001
NM_004369.4(COL6A3):c.1812C>T (p.Ile604=) rs138036318 0.00001
NM_004369.4(COL6A3):c.1825C>T (p.Arg609Ter) rs755382829 0.00001
NM_004369.4(COL6A3):c.1833C>T (p.Ala611=) rs368242683 0.00001
NM_004369.4(COL6A3):c.1897+1G>T rs1230578718 0.00001
NM_004369.4(COL6A3):c.1897+6G>A rs1189511183 0.00001
NM_004369.4(COL6A3):c.1906A>G (p.Asn636Asp) rs111379417 0.00001
NM_004369.4(COL6A3):c.1939T>A (p.Ser647Thr) rs777409908 0.00001
NM_004369.4(COL6A3):c.1958C>A (p.Thr653Asn) rs753557181 0.00001
NM_004369.4(COL6A3):c.1971T>C (p.Tyr657=) rs970623100 0.00001
NM_004369.4(COL6A3):c.2071T>C (p.Phe691Leu) rs1347014329 0.00001
NM_004369.4(COL6A3):c.2133C>T (p.Leu711=) rs1166349776 0.00001
NM_004369.4(COL6A3):c.2148C>T (p.Gly716=) rs1204913393 0.00001
NM_004369.4(COL6A3):c.2232G>A (p.Pro744=) rs368826874 0.00001
NM_004369.4(COL6A3):c.2236C>A (p.Leu746Ile) rs755052076 0.00001
NM_004369.4(COL6A3):c.2260C>A (p.Gln754Lys) rs763798987 0.00001
NM_004369.4(COL6A3):c.2261A>G (p.Gln754Arg) rs762752112 0.00001
NM_004369.4(COL6A3):c.2284G>A (p.Ala762Thr) rs759150949 0.00001
NM_004369.4(COL6A3):c.2307G>A (p.Ala769=) rs780578768 0.00001
NM_004369.4(COL6A3):c.2324G>A (p.Cys775Tyr) rs756337970 0.00001
NM_004369.4(COL6A3):c.2342C>T (p.Ala781Val) rs116753562 0.00001
NM_004369.4(COL6A3):c.2352A>G (p.Ala784=) rs759099641 0.00001
NM_004369.4(COL6A3):c.2360A>G (p.Glu787Gly) rs773202559 0.00001
NM_004369.4(COL6A3):c.2362C>T (p.Gln788Ter) rs948586287 0.00001
NM_004369.4(COL6A3):c.2376C>T (p.Asn792=) rs1038000360 0.00001
NM_004369.4(COL6A3):c.2378C>T (p.Pro793Leu) rs747957874 0.00001
NM_004369.4(COL6A3):c.2397G>A (p.Met799Ile) rs768905903 0.00001
NM_004369.4(COL6A3):c.2400T>A (p.Asp800Glu) rs374774989 0.00001
NM_004369.4(COL6A3):c.2487C>T (p.Leu829=) rs752530417 0.00001
NM_004369.4(COL6A3):c.2505G>A (p.Lys835=) rs892390706 0.00001
NM_004369.4(COL6A3):c.2512A>T (p.Ile838Phe) rs1455744375 0.00001
NM_004369.4(COL6A3):c.2589C>T (p.Ile863=) rs376409920 0.00001
NM_004369.4(COL6A3):c.2601T>C (p.Asn867=) rs764115723 0.00001
NM_004369.4(COL6A3):c.260C>G (p.Pro87Arg) rs200887514 0.00001
NM_004369.4(COL6A3):c.2627C>T (p.Ala876Val) rs771091001 0.00001
NM_004369.4(COL6A3):c.2628G>A (p.Ala876=) rs919417658 0.00001
NM_004369.4(COL6A3):c.262C>T (p.His88Tyr) rs773999183 0.00001
NM_004369.4(COL6A3):c.2633C>G (p.Ala878Gly) rs1326943912 0.00001
NM_004369.4(COL6A3):c.2665C>T (p.Arg889Cys) rs201327438 0.00001
NM_004369.4(COL6A3):c.2674G>A (p.Glu892Lys) rs760380736 0.00001
NM_004369.4(COL6A3):c.2722A>T (p.Ile908Phe) rs1370199768 0.00001
NM_004369.4(COL6A3):c.2732G>A (p.Gly911Asp) rs149310819 0.00001
NM_004369.4(COL6A3):c.2796T>C (p.Ala932=) rs1158876557 0.00001
NM_004369.4(COL6A3):c.2808C>T (p.Ile936=) rs116256579 0.00001
NM_004369.4(COL6A3):c.2821C>T (p.Leu941Phe) rs1441141878 0.00001
NM_004369.4(COL6A3):c.2822T>C (p.Leu941Pro) rs1339733240 0.00001
NM_004369.4(COL6A3):c.2830C>T (p.Leu944=) rs886470638 0.00001
NM_004369.4(COL6A3):c.2845G>A (p.Ala949Thr) rs374960915 0.00001
NM_004369.4(COL6A3):c.2847A>G (p.Ala949=) rs746610835 0.00001
NM_004369.4(COL6A3):c.284C>T (p.Thr95Met) rs769697782 0.00001
NM_004369.4(COL6A3):c.2895G>T (p.Gln965His) rs775993027 0.00001
NM_004369.4(COL6A3):c.2908C>T (p.Pro970Ser) rs1226873582 0.00001
NM_004369.4(COL6A3):c.290G>A (p.Arg97His) rs201249839 0.00001
NM_004369.4(COL6A3):c.2932G>A (p.Ala978Thr) rs768292803 0.00001
NM_004369.4(COL6A3):c.2959G>A (p.Val987Met) rs140437593 0.00001
NM_004369.4(COL6A3):c.2973G>A (p.Ala991=) rs541545591 0.00001
NM_004369.4(COL6A3):c.3012T>C (p.Asp1004=) rs745661734 0.00001
NM_004369.4(COL6A3):c.3053A>G (p.Asn1018Ser) rs375167315 0.00001
NM_004369.4(COL6A3):c.3067C>T (p.Pro1023Ser) rs556864605 0.00001
NM_004369.4(COL6A3):c.3070+4T>C rs201456189 0.00001
NM_004369.4(COL6A3):c.3071-21_3071-18dup rs1321741683 0.00001
NM_004369.4(COL6A3):c.3071-7C>G rs370229367 0.00001
NM_004369.4(COL6A3):c.3115G>A (p.Gly1039Ser) rs1465296993 0.00001
NM_004369.4(COL6A3):c.3117C>T (p.Gly1039=) rs922629653 0.00001
NM_004369.4(COL6A3):c.3126C>T (p.Ser1042=) rs372619164 0.00001
NM_004369.4(COL6A3):c.3127G>A (p.Gly1043Ser) rs748313591 0.00001
NM_004369.4(COL6A3):c.3197G>A (p.Arg1066His) rs768971873 0.00001
NM_004369.4(COL6A3):c.3198C>T (p.Arg1066=) rs200621867 0.00001
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn) rs778403814 0.00001
NM_004369.4(COL6A3):c.322A>G (p.Asn108Asp) rs2078395425 0.00001
NM_004369.4(COL6A3):c.3234C>T (p.Pro1078=) rs777909478 0.00001
NM_004369.4(COL6A3):c.3238T>A (p.Phe1080Ile) rs761490778 0.00001
NM_004369.4(COL6A3):c.3257T>A (p.Met1086Lys) rs1425555208 0.00001
NM_004369.4(COL6A3):c.3271G>A (p.Val1091Ile) rs373915980 0.00001
NM_004369.4(COL6A3):c.3272T>A (p.Val1091Asp) rs745854120 0.00001
NM_004369.4(COL6A3):c.3280G>A (p.Ala1094Thr) rs369460632 0.00001
NM_004369.4(COL6A3):c.3319A>G (p.Asn1107Asp) rs1574710031 0.00001
NM_004369.4(COL6A3):c.3392G>A (p.Gly1131Asp) rs769494656 0.00001
NM_004369.4(COL6A3):c.3409A>T (p.Ile1137Phe) rs2077785777 0.00001
NM_004369.4(COL6A3):c.3414C>T (p.Val1138=) rs1022815311 0.00001
NM_004369.4(COL6A3):c.3424G>A (p.Asp1142Asn) rs777599612 0.00001
NM_004369.4(COL6A3):c.345C>A (p.Thr115=) rs371958092 0.00001
NM_004369.4(COL6A3):c.3462C>T (p.Val1154=) rs762152367 0.00001
NM_004369.4(COL6A3):c.3470G>T (p.Arg1157Met) rs727502838 0.00001
NM_004369.4(COL6A3):c.3501C>T (p.Ile1167=) rs199998363 0.00001
NM_004369.4(COL6A3):c.3549C>G (p.Asp1183Glu) rs762240306 0.00001
NM_004369.4(COL6A3):c.3569C>A (p.Thr1190Asn) rs369994205 0.00001
NM_004369.4(COL6A3):c.3617C>T (p.Thr1206Ile) rs949598599 0.00001
NM_004369.4(COL6A3):c.3619C>A (p.Gln1207Lys) rs886042393 0.00001
NM_004369.4(COL6A3):c.3630C>T (p.Arg1210=) rs757349824 0.00001
NM_004369.4(COL6A3):c.3668T>C (p.Leu1223Pro) rs772944531 0.00001
NM_004369.4(COL6A3):c.3685G>A (p.Gly1229Ser) rs1321693848 0.00001
NM_004369.4(COL6A3):c.3714C>T (p.Ile1238=) rs150911180 0.00001
NM_004369.4(COL6A3):c.3715G>A (p.Asp1239Asn) rs563617159 0.00001
NM_004369.4(COL6A3):c.3738T>C (p.Pro1246=) rs927612906 0.00001
NM_004369.4(COL6A3):c.3808C>T (p.Arg1270Trp) rs781735632 0.00001
NM_004369.4(COL6A3):c.3809G>A (p.Arg1270Gln) rs1057518127 0.00001
NM_004369.4(COL6A3):c.3810G>C (p.Arg1270=) rs886042792 0.00001
NM_004369.4(COL6A3):c.3837C>A (p.Asp1279Glu) rs372089952 0.00001
NM_004369.4(COL6A3):c.3841A>G (p.Lys1281Glu) rs886043888 0.00001
NM_004369.4(COL6A3):c.3859A>T (p.Asn1287Tyr) rs35799634 0.00001
NM_004369.4(COL6A3):c.3893C>T (p.Ala1298Val) rs570869775 0.00001
NM_004369.4(COL6A3):c.3989G>C (p.Ser1330Thr) rs779967310 0.00001
NM_004369.4(COL6A3):c.4021G>A (p.Val1341Ile) rs1220087503 0.00001
NM_004369.4(COL6A3):c.4031C>T (p.Ser1344Leu) rs777759049 0.00001
NM_004369.4(COL6A3):c.4059C>T (p.Asp1353=) rs765355858 0.00001
NM_004369.4(COL6A3):c.4065G>A (p.Pro1355=) rs766856187 0.00001
NM_004369.4(COL6A3):c.4068G>A (p.Ala1356=) rs772443916 0.00001
NM_004369.4(COL6A3):c.4070T>C (p.Val1357Ala) rs1480888719 0.00001
NM_004369.4(COL6A3):c.4072G>A (p.Glu1358Lys) rs762544728 0.00001
NM_004369.4(COL6A3):c.4085T>A (p.Phe1362Tyr) rs745420792 0.00001
NM_004369.4(COL6A3):c.409C>T (p.Arg137Trp) rs143819673 0.00001
NM_004369.4(COL6A3):c.4104G>A (p.Thr1368=) rs777649526 0.00001
NM_004369.4(COL6A3):c.410G>A (p.Arg137Gln) rs779126378 0.00001
NM_004369.4(COL6A3):c.413C>T (p.Ala138Val) rs1167973119 0.00001
NM_004369.4(COL6A3):c.4145C>T (p.Ser1382Leu) rs767829363 0.00001
NM_004369.4(COL6A3):c.416G>T (p.Gly139Val) rs780669785 0.00001
NM_004369.4(COL6A3):c.4199T>A (p.Leu1400Gln) rs1210132500 0.00001
NM_004369.4(COL6A3):c.420C>T (p.Asp140=) rs909857244 0.00001
NM_004369.4(COL6A3):c.421G>A (p.Gly141Arg) rs398124120 0.00001
NM_004369.4(COL6A3):c.4221C>G (p.Pro1407=) rs565366400 0.00001
NM_004369.4(COL6A3):c.4240G>C (p.Glu1414Gln) rs539986030 0.00001
NM_004369.4(COL6A3):c.4263C>T (p.Ala1421=) rs748103971 0.00001
NM_004369.4(COL6A3):c.4270C>T (p.Arg1424Cys) rs768522226 0.00001
NM_004369.4(COL6A3):c.4285+7T>C rs781660921 0.00001
NM_004369.4(COL6A3):c.4286-4G>A rs779028717 0.00001
NM_004369.4(COL6A3):c.4306G>C (p.Asp1436His) rs1168273415 0.00001
NM_004369.4(COL6A3):c.4318C>G (p.Leu1440Val) rs1335664006 0.00001
NM_004369.4(COL6A3):c.4323C>T (p.Ile1441=) rs747160916 0.00001
NM_004369.4(COL6A3):c.4366C>T (p.Arg1456Ter) rs781043870 0.00001
NM_004369.4(COL6A3):c.4425T>C (p.Val1475=) rs779603740 0.00001
NM_004369.4(COL6A3):c.4448A>T (p.Asp1483Val) rs114736729 0.00001
NM_004369.4(COL6A3):c.4491C>T (p.Ala1497=) rs558665283 0.00001
NM_004369.4(COL6A3):c.4497G>A (p.Val1499=) rs749820906 0.00001
NM_004369.4(COL6A3):c.4513C>T (p.Arg1505Cys) rs778816180 0.00001
NM_004369.4(COL6A3):c.4514G>A (p.Arg1505His) rs754840728 0.00001
NM_004369.4(COL6A3):c.4524C>G (p.Leu1508=) rs755902927 0.00001
NM_004369.4(COL6A3):c.4561G>A (p.Glu1521Lys) rs113538665 0.00001
NM_004369.4(COL6A3):c.4599G>A (p.Gly1533=) rs778335651 0.00001
NM_004369.4(COL6A3):c.4604G>A (p.Arg1535His) rs115765346 0.00001
NM_004369.4(COL6A3):c.4617G>A (p.Gly1539=) rs1420997887 0.00001
NM_004369.4(COL6A3):c.465G>A (p.Lys155=) rs771817420 0.00001
NM_004369.4(COL6A3):c.4690C>T (p.Arg1564Cys) rs200825417 0.00001
NM_004369.4(COL6A3):c.4726C>T (p.Arg1576Trp) rs773979979 0.00001
NM_004369.4(COL6A3):c.4734C>T (p.Ile1578=) rs774809714 0.00001
NM_004369.4(COL6A3):c.4774C>A (p.Leu1592Met) rs1211026126 0.00001
NM_004369.4(COL6A3):c.4795T>C (p.Phe1599Leu) rs911848582 0.00001
NM_004369.4(COL6A3):c.4819G>A (p.Glu1607Lys) rs1386145634 0.00001
NM_004369.4(COL6A3):c.4823G>A (p.Arg1608Lys) rs931661932 0.00001
NM_004369.4(COL6A3):c.482C>T (p.Pro161Leu) rs1190967394 0.00001
NM_004369.4(COL6A3):c.4835C>T (p.Ser1612Leu) rs201532239 0.00001
NM_004369.4(COL6A3):c.4842A>G (p.Gly1614=) rs199531763 0.00001
NM_004369.4(COL6A3):c.486A>G (p.Ser162=) rs1477252497 0.00001
NM_004369.4(COL6A3):c.4880C>A (p.Thr1627Asn) rs149261556 0.00001
NM_004369.4(COL6A3):c.4932G>A (p.Leu1644=) rs750374768 0.00001
NM_004369.4(COL6A3):c.4935T>C (p.Asp1645=) rs767560639 0.00001
NM_004369.4(COL6A3):c.5003C>T (p.Thr1668Ile) rs1341078916 0.00001
NM_004369.4(COL6A3):c.503C>T (p.Ala168Val) rs757496683 0.00001
NM_004369.4(COL6A3):c.5045A>G (p.Gln1682Arg) rs1026210962 0.00001
NM_004369.4(COL6A3):c.5113G>A (p.Ala1705Thr) rs886042488 0.00001
NM_004369.4(COL6A3):c.5127G>A (p.Val1709=) rs747509514 0.00001
NM_004369.4(COL6A3):c.5138G>A (p.Gly1713Glu) rs779425587 0.00001
NM_004369.4(COL6A3):c.5143A>G (p.Arg1715Gly) rs1365983591 0.00001
NM_004369.4(COL6A3):c.514G>A (p.Val172Met) rs1270503233 0.00001
NM_004369.4(COL6A3):c.5162T>C (p.Val1721Ala) rs752418797 0.00001
NM_004369.4(COL6A3):c.5163G>A (p.Val1721=) rs759703082 0.00001
NM_004369.4(COL6A3):c.5182G>A (p.Val1728Ile) rs772640905 0.00001
NM_004369.4(COL6A3):c.5222A>T (p.Gln1741Leu) rs769177221 0.00001
NM_004369.4(COL6A3):c.522A>G (p.Ala174=) rs1477904627 0.00001
NM_004369.4(COL6A3):c.5234A>G (p.Gln1745Arg) rs756781502 0.00001
NM_004369.4(COL6A3):c.5244T>A (p.Phe1748Leu) rs777266074 0.00001
NM_004369.4(COL6A3):c.5252C>T (p.Thr1751Met) rs201147199 0.00001
NM_004369.4(COL6A3):c.5253G>A (p.Thr1751=) rs886043174 0.00001
NM_004369.4(COL6A3):c.5264C>T (p.Ser1755Leu) rs764975992 0.00001
NM_004369.4(COL6A3):c.5330G>T (p.Gly1777Val) rs1477823319 0.00001
NM_004369.4(COL6A3):c.5339A>G (p.Asn1780Ser) rs750040219 0.00001
NM_004369.4(COL6A3):c.5348C>T (p.Ser1783Leu) rs1271500443 0.00001
NM_004369.4(COL6A3):c.5392C>T (p.Arg1798Cys) rs886044508 0.00001
NM_004369.4(COL6A3):c.5432A>G (p.Gln1811Arg) rs751626953 0.00001
NM_004369.4(COL6A3):c.5450A>G (p.His1817Arg) rs1375661246 0.00001
NM_004369.4(COL6A3):c.5457G>A (p.Ala1819=) rs377249790 0.00001
NM_004369.4(COL6A3):c.5461C>T (p.His1821Tyr) rs2077562058 0.00001
NM_004369.4(COL6A3):c.5501-9C>A rs1426149492 0.00001
NM_004369.4(COL6A3):c.5534G>T (p.Gly1845Val) rs747200439 0.00001
NM_004369.4(COL6A3):c.5542G>A (p.Asp1848Asn) rs78904746 0.00001
NM_004369.4(COL6A3):c.5547G>C (p.Gln1849His) rs201313985 0.00001
NM_004369.4(COL6A3):c.5555T>C (p.Phe1852Ser) rs148488423 0.00001
NM_004369.4(COL6A3):c.5574C>T (p.Phe1858=) rs114259747 0.00001
NM_004369.4(COL6A3):c.5641C>T (p.Arg1881Cys) rs772269570 0.00001
NM_004369.4(COL6A3):c.5642G>A (p.Arg1881His) rs748330667 0.00001
NM_004369.4(COL6A3):c.5646G>A (p.Ser1882=) rs886055807 0.00001
NM_004369.4(COL6A3):c.5646G>T (p.Ser1882=) rs886055807 0.00001
NM_004369.4(COL6A3):c.5649C>A (p.Pro1883=) rs886044430 0.00001
NM_004369.4(COL6A3):c.5666T>A (p.Val1889Glu) rs1423516861 0.00001
NM_004369.4(COL6A3):c.5684C>T (p.Ser1895Leu) rs760532694 0.00001
NM_004369.4(COL6A3):c.5718C>T (p.Tyr1906=) rs200999503 0.00001
NM_004369.4(COL6A3):c.5748C>A (p.Asn1916Lys) rs1159000538 0.00001
NM_004369.4(COL6A3):c.575C>T (p.Pro192Leu) rs563800854 0.00001
NM_004369.4(COL6A3):c.5770G>A (p.Val1924Ile) rs778162038 0.00001
NM_004369.4(COL6A3):c.5775C>T (p.Leu1925=) rs764231408 0.00001
NM_004369.4(COL6A3):c.5777C>T (p.Thr1926Met) rs763172498 0.00001
NM_004369.4(COL6A3):c.5778G>A (p.Thr1926=) rs555406717 0.00001
NM_004369.4(COL6A3):c.5811C>T (p.Phe1937=) rs771317034 0.00001
NM_004369.4(COL6A3):c.5824C>G (p.Pro1942Ala) rs1293700251 0.00001
NM_004369.4(COL6A3):c.5826G>A (p.Pro1942=) rs113283088 0.00001
NM_004369.4(COL6A3):c.5832C>T (p.Ser1944=) rs2077534219 0.00001
NM_004369.4(COL6A3):c.5838+7G>C rs369931091 0.00001
NM_004369.4(COL6A3):c.5910C>T (p.Arg1970=) rs727503884 0.00001
NM_004369.4(COL6A3):c.5950C>T (p.Arg1984Ter) rs771941724 0.00001
NM_004369.4(COL6A3):c.5993G>A (p.Arg1998Gln) rs767725940 0.00001
NM_004369.4(COL6A3):c.6005A>T (p.Tyr2002Phe) rs763429012 0.00001
NM_004369.4(COL6A3):c.6040G>T (p.Asp2014Tyr) rs376548186 0.00001
NM_004369.4(COL6A3):c.6054G>A (p.Ala2018=) rs367696163 0.00001
NM_004369.4(COL6A3):c.6064-4G>A rs762819140 0.00001
NM_004369.4(COL6A3):c.6127C>T (p.Arg2043Cys) rs1001689383 0.00001
NM_004369.4(COL6A3):c.6129C>T (p.Arg2043=) rs576524993 0.00001
NM_004369.4(COL6A3):c.6156+16C>T rs779455691 0.00001
NM_004369.4(COL6A3):c.6156+5G>A rs112374074 0.00001
NM_004369.4(COL6A3):c.6159T>C (p.Gly2053=) rs1172901266 0.00001
NM_004369.4(COL6A3):c.6174C>T (p.Asp2058=) rs777351827 0.00001
NM_004369.4(COL6A3):c.6201G>C (p.Glu2067Asp) rs765647487 0.00001
NM_004369.4(COL6A3):c.6211-9del rs1280994015 0.00001
NM_004369.4(COL6A3):c.6242C>G (p.Thr2081Ser) rs1364892747 0.00001
NM_004369.4(COL6A3):c.6255G>A (p.Gln2085=) rs777097924 0.00001
NM_004369.4(COL6A3):c.6264G>A (p.Pro2088=) rs1156803322 0.00001
NM_004369.4(COL6A3):c.6282+9T>C rs1038994935 0.00001
NM_004369.4(COL6A3):c.6283-15C>T rs757187481 0.00001
NM_004369.4(COL6A3):c.6291G>T (p.Arg2097=) rs761280470 0.00001
NM_004369.4(COL6A3):c.6309+4T>G rs1421626951 0.00001
NM_004369.4(COL6A3):c.630A>G (p.Val210=) rs914512334 0.00001
NM_004369.4(COL6A3):c.6315A>C (p.Glu2105Asp) rs1235042491 0.00001
NM_004369.4(COL6A3):c.6354+16C>T rs1314468175 0.00001
NM_004369.4(COL6A3):c.6372T>C (p.Pro2124=) rs894679602 0.00001
NM_004369.4(COL6A3):c.6469C>G (p.Pro2157Ala) rs746104217 0.00001
NM_004369.4(COL6A3):c.6471+8T>C rs747540355 0.00001
NM_004369.4(COL6A3):c.6471G>A (p.Pro2157=) rs1349524156 0.00001
NM_004369.4(COL6A3):c.6472-13A>G rs1156922421 0.00001
NM_004369.4(COL6A3):c.64A>G (p.Thr22Ala) rs774784273 0.00001
NM_004369.4(COL6A3):c.6506C>G (p.Pro2169Arg) rs532433812 0.00001
NM_004369.4(COL6A3):c.6519C>T (p.Thr2173=) rs776493521 0.00001
NM_004369.4(COL6A3):c.6520G>A (p.Gly2174Ser) rs766458058 0.00001
NM_004369.4(COL6A3):c.6545C>T (p.Pro2182Leu) rs761812649 0.00001
NM_004369.4(COL6A3):c.6592-3C>T rs760143724 0.00001
NM_004369.4(COL6A3):c.6592G>A (p.Gly2198Ser) rs1257553370 0.00001
NM_004369.4(COL6A3):c.6604C>T (p.Arg2202Ter) rs774115247 0.00001
NM_004369.4(COL6A3):c.6677C>T (p.Thr2226Ile) rs376621780 0.00001
NM_004369.4(COL6A3):c.6691-3C>T rs757686067 0.00001
NM_004369.4(COL6A3):c.6691-8T>G rs1308697483 0.00001
NM_004369.4(COL6A3):c.6754-9C>G rs886038542 0.00001
NM_004369.4(COL6A3):c.675G>C (p.Arg225Ser) rs1330724943 0.00001
NM_004369.4(COL6A3):c.6766G>A (p.Ala2256Thr) rs745877985 0.00001
NM_004369.4(COL6A3):c.6799G>A (p.Gly2267Ser) rs749855513 0.00001
NM_004369.4(COL6A3):c.6833C>T (p.Pro2278Leu) rs773775745 0.00001
NM_004369.4(COL6A3):c.6838C>A (p.Pro2280Thr) rs779359869 0.00001
NM_004369.4(COL6A3):c.6853G>A (p.Gly2285Arg) rs1268762655 0.00001
NM_004369.4(COL6A3):c.6859C>T (p.Arg2287Trp) rs751115326 0.00001
NM_004369.4(COL6A3):c.6860G>A (p.Arg2287Gln) rs777794580 0.00001
NM_004369.4(COL6A3):c.6861G>A (p.Arg2287=) rs551512561 0.00001
NM_004369.4(COL6A3):c.6878C>T (p.Thr2293Met) rs759657526 0.00001
NM_004369.4(COL6A3):c.6879+16G>A rs915585400 0.00001
NM_004369.4(COL6A3):c.6890G>C (p.Gly2297Ala) rs886043576 0.00001
NM_004369.4(COL6A3):c.6897C>T (p.Asp2299=) rs764508785 0.00001
NM_004369.4(COL6A3):c.6920G>C (p.Arg2307Thr) rs778845754 0.00001
NM_004369.4(COL6A3):c.6934G>A (p.Glu2312Lys) rs1282952198 0.00001
NM_004369.4(COL6A3):c.6966+10C>G rs995436631 0.00001
NM_004369.4(COL6A3):c.6973C>T (p.Pro2325Ser) rs886044392 0.00001
NM_004369.4(COL6A3):c.6978T>C (p.Gly2326=) rs755565292 0.00001
NM_004369.4(COL6A3):c.6979G>A (p.Glu2327Lys) rs1435064229 0.00001
NM_004369.4(COL6A3):c.7029+3A>G rs886044464 0.00001
NM_004369.4(COL6A3):c.7031G>A (p.Gly2344Glu) rs367725413 0.00001
NM_004369.4(COL6A3):c.7038G>A (p.Ser2346=) rs773164702 0.00001
NM_004369.4(COL6A3):c.704T>C (p.Ile235Thr) rs886043065 0.00001
NM_004369.4(COL6A3):c.709+4A>G rs1458579992 0.00001
NM_004369.4(COL6A3):c.709+8C>T rs779535244 0.00001
NM_004369.4(COL6A3):c.7123G>A (p.Asp2375Asn) rs778371231 0.00001
NM_004369.4(COL6A3):c.7158A>G (p.Lys2386=) rs376714139 0.00001
NM_004369.4(COL6A3):c.7188C>T (p.Cys2396=) rs1383762763 0.00001
NM_004369.4(COL6A3):c.721G>A (p.Ala241Thr) rs1559271365 0.00001
NM_004369.4(COL6A3):c.7224C>G (p.Asp2408Glu) rs377084627 0.00001
NM_004369.4(COL6A3):c.7255G>A (p.Gly2419Ser) rs749446863 0.00001
NM_004369.4(COL6A3):c.7265G>A (p.Arg2422Gln) rs748029252 0.00001
NM_004369.4(COL6A3):c.7275C>T (p.Val2425=) rs749075993 0.00001
NM_004369.4(COL6A3):c.7282A>G (p.Ile2428Val) rs1462967965 0.00001
NM_004369.4(COL6A3):c.7290T>G (p.Asn2430Lys) rs900113844 0.00001
NM_004369.4(COL6A3):c.7308G>A (p.Glu2436=) rs750552221 0.00001
NM_004369.4(COL6A3):c.7311C>G (p.Ser2437Arg) rs781087176 0.00001
NM_004369.4(COL6A3):c.7322G>A (p.Arg2441Gln) rs753090057 0.00001
NM_004369.4(COL6A3):c.7364C>A (p.Thr2455Asn) rs1269973980 0.00001
NM_004369.4(COL6A3):c.7367C>T (p.Thr2456Met) rs747074064 0.00001
NM_004369.4(COL6A3):c.7368G>A (p.Thr2456=) rs778474394 0.00001
NM_004369.4(COL6A3):c.7391A>G (p.Lys2464Arg) rs1445471566 0.00001
NM_004369.4(COL6A3):c.7477T>C (p.Phe2493Leu) rs756868798 0.00001
NM_004369.4(COL6A3):c.7502G>A (p.Arg2501His) rs541928674 0.00001
NM_004369.4(COL6A3):c.7514G>T (p.Gly2505Val) rs794727591 0.00001
NM_004369.4(COL6A3):c.7575G>A (p.Gln2525=) rs752232293 0.00001
NM_004369.4(COL6A3):c.7612A>G (p.Ile2538Val) rs770214397 0.00001
NM_004369.4(COL6A3):c.7668+18G>A rs1234167823 0.00001
NM_004369.4(COL6A3):c.7676A>G (p.Asn2559Ser) rs1009561726 0.00001
NM_004369.4(COL6A3):c.7691A>T (p.His2564Leu) rs886055804 0.00001
NM_004369.4(COL6A3):c.76C>T (p.Gln26Ter) rs763187844 0.00001
NM_004369.4(COL6A3):c.7713G>A (p.Gly2571=) rs756140209 0.00001
NM_004369.4(COL6A3):c.7766-14A>C rs745793481 0.00001
NM_004369.4(COL6A3):c.779T>C (p.Val260Ala) rs767993846 0.00001
NM_004369.4(COL6A3):c.7833G>A (p.Ala2611=) rs535306425 0.00001
NM_004369.4(COL6A3):c.7855G>A (p.Asp2619Asn) rs756654349 0.00001
NM_004369.4(COL6A3):c.7878C>T (p.Ser2626=) rs145136426 0.00001
NM_004369.4(COL6A3):c.7976A>G (p.Gln2659Arg) rs886044041 0.00001
NM_004369.4(COL6A3):c.7984G>A (p.Ala2662Thr) rs749100905 0.00001
NM_004369.4(COL6A3):c.802C>T (p.Leu268Phe) rs572430889 0.00001
NM_004369.4(COL6A3):c.807T>C (p.Leu269=) rs776357610 0.00001
NM_004369.4(COL6A3):c.810G>T (p.Glu270Asp) rs964222724 0.00001
NM_004369.4(COL6A3):c.8122C>G (p.Gln2708Glu) rs778195223 0.00001
NM_004369.4(COL6A3):c.8147G>T (p.Gly2716Val) rs1311630536 0.00001
NM_004369.4(COL6A3):c.8155A>G (p.Ile2719Val) rs762902561 0.00001
NM_004369.4(COL6A3):c.8158G>A (p.Glu2720Lys) rs368129741 0.00001
NM_004369.4(COL6A3):c.8209A>C (p.Lys2737Gln) rs111764507 0.00001
NM_004369.4(COL6A3):c.8212A>T (p.Ile2738Phe) rs141344389 0.00001
NM_004369.4(COL6A3):c.8256G>A (p.Leu2752=) rs769124771 0.00001
NM_004369.4(COL6A3):c.8263G>A (p.Ala2755Thr) rs775790310 0.00001
NM_004369.4(COL6A3):c.8290T>G (p.Cys2764Gly) rs779036168 0.00001
NM_004369.4(COL6A3):c.8310G>A (p.Val2770=) rs766217603 0.00001
NM_004369.4(COL6A3):c.8337C>T (p.Asn2779=) rs1338421880 0.00001
NM_004369.4(COL6A3):c.8375A>G (p.Asp2792Gly) rs886044347 0.00001
NM_004369.4(COL6A3):c.8376C>T (p.Asp2792=) rs772967228 0.00001
NM_004369.4(COL6A3):c.837C>T (p.Ile279=) rs772888162 0.00001
NM_004369.4(COL6A3):c.8385C>T (p.Phe2795=) rs201460305 0.00001
NM_004369.4(COL6A3):c.8406C>T (p.Thr2802=) rs572018781 0.00001
NM_004369.4(COL6A3):c.8416G>A (p.Glu2806Lys) rs775200499 0.00001
NM_004369.4(COL6A3):c.8422C>T (p.Pro2808Ser) rs1335582737 0.00001
NM_004369.4(COL6A3):c.8431C>T (p.Arg2811Cys) rs371361651 0.00001
NM_004369.4(COL6A3):c.8437G>A (p.Gly2813Arg) rs146131332 0.00001
NM_004369.4(COL6A3):c.8465-20T>C rs746788651 0.00001
NM_004369.4(COL6A3):c.8478T>C (p.Phe2826=) rs748250269 0.00001
NM_004369.4(COL6A3):c.8498G>A (p.Arg2833Lys) rs755510736 0.00001
NM_004369.4(COL6A3):c.8522G>A (p.Gly2841Glu) rs1296360526 0.00001
NM_004369.4(COL6A3):c.8568-9T>C rs1369507012 0.00001
NM_004369.4(COL6A3):c.8584G>A (p.Val2862Ile) rs371745862 0.00001
NM_004369.4(COL6A3):c.8615C>T (p.Thr2872Met) rs759009226 0.00001
NM_004369.4(COL6A3):c.8622G>A (p.Thr2874=) rs766330730 0.00001
NM_004369.4(COL6A3):c.8634T>C (p.Thr2878=) rs768887961 0.00001
NM_004369.4(COL6A3):c.8645C>T (p.Pro2882Leu) rs112178393 0.00001
NM_004369.4(COL6A3):c.8743G>A (p.Ala2915Thr) rs377528704 0.00001
NM_004369.4(COL6A3):c.8807T>C (p.Val2936Ala) rs1218467207 0.00001
NM_004369.4(COL6A3):c.8861C>T (p.Pro2954Leu) rs766551222 0.00001
NM_004369.4(COL6A3):c.8895C>A (p.Thr2965=) rs114008087 0.00001
NM_004369.4(COL6A3):c.8903A>C (p.Glu2968Ala) rs758363294 0.00001
NM_004369.4(COL6A3):c.8907C>T (p.Val2969=) rs201605617 0.00001
NM_004369.4(COL6A3):c.8924C>T (p.Ala2975Val) rs557120711 0.00001
NM_004369.4(COL6A3):c.8966-6T>C rs756239147 0.00001
NM_004369.4(COL6A3):c.8977C>T (p.Arg2993Cys) rs148318789 0.00001
NM_004369.4(COL6A3):c.9005A>G (p.Glu3002Gly) rs747642083 0.00001
NM_004369.4(COL6A3):c.9012C>T (p.Ser3004=) rs199519571 0.00001
NM_004369.4(COL6A3):c.9032G>T (p.Arg3011Met) rs757374995 0.00001
NM_004369.4(COL6A3):c.9043C>T (p.Pro3015Ser) rs529079748 0.00001
NM_004369.4(COL6A3):c.9070G>A (p.Val3024Ile) rs769756403 0.00001
NM_004369.4(COL6A3):c.907G>T (p.Ala303Ser) rs1162064854 0.00001
NM_004369.4(COL6A3):c.9082C>T (p.His3028Tyr) rs745651769 0.00001
NM_004369.4(COL6A3):c.911A>G (p.Gln304Arg) rs1370564126 0.00001
NM_004369.4(COL6A3):c.9122C>T (p.Thr3041Met) rs754218170 0.00001
NM_004369.4(COL6A3):c.9180C>G (p.Cys3060Trp) rs376939353 0.00001
NM_004369.4(COL6A3):c.9209A>G (p.Tyr3070Cys) rs368568929 0.00001
NM_004369.4(COL6A3):c.920G>A (p.Gly307Asp) rs149412478 0.00001
NM_004369.4(COL6A3):c.9229+4A>C rs749872311 0.00001
NM_004369.4(COL6A3):c.922G>A (p.Ala308Thr) rs779867515 0.00001
NM_004369.4(COL6A3):c.9248C>A (p.Pro3083His) rs760496428 0.00001
NM_004369.4(COL6A3):c.9250C>T (p.Pro3084Ser) rs1468004640 0.00001
NM_004369.4(COL6A3):c.9290T>C (p.Leu3097Pro) rs886042363 0.00001
NM_004369.4(COL6A3):c.9316C>T (p.Leu3106Phe) rs112455407 0.00001
NM_004369.4(COL6A3):c.9328+8G>T rs770383420 0.00001
NM_004369.4(COL6A3):c.9329-4A>T rs199800564 0.00001
NM_004369.4(COL6A3):c.9352G>A (p.Glu3118Lys) rs755613566 0.00001
NM_004369.4(COL6A3):c.9374T>C (p.Ile3125Thr) rs1385929254 0.00001
NM_004369.4(COL6A3):c.9398A>G (p.Asn3133Ser) rs1699901008 0.00001
NM_004369.4(COL6A3):c.9417A>G (p.Arg3139=) rs1215789317 0.00001
NM_004369.4(COL6A3):c.9451A>G (p.Lys3151Glu) rs371468515 0.00001
NM_004369.4(COL6A3):c.9457G>C (p.Gly3153Arg) rs769392747 0.00001
NM_004369.4(COL6A3):c.9459A>G (p.Gly3153=) rs886044034 0.00001
NM_004369.4(COL6A3):c.9489T>A (p.Ala3163=) rs367728719 0.00001
NM_004369.4(COL6A3):c.976C>G (p.Leu326Val) rs773786663 0.00001
NM_004369.4(COL6A3):c.984C>T (p.Phe328=) rs768609958 0.00001
NM_004369.4(COL6A3):c.98A>G (p.Lys33Arg) rs781141962 0.00001
NM_004370.6(COL12A1):c.1006C>T (p.Pro336Ser) rs375542964 0.00001
NM_004370.6(COL12A1):c.100A>G (p.Lys34Glu) rs747183950 0.00001
NM_004370.6(COL12A1):c.1018T>C (p.Leu340=) rs578252411 0.00001
NM_004370.6(COL12A1):c.1029G>A (p.Met343Ile) rs780955667 0.00001
NM_004370.6(COL12A1):c.1032A>G (p.Glu344=) rs371748094 0.00001
NM_004370.6(COL12A1):c.103A>G (p.Ile35Val) rs780247302 0.00001
NM_004370.6(COL12A1):c.1065T>A (p.Asn355Lys) rs1769480073 0.00001
NM_004370.6(COL12A1):c.1083G>A (p.Val361=) rs373691118 0.00001
NM_004370.6(COL12A1):c.1115C>T (p.Thr372Ile) rs922525519 0.00001
NM_004370.6(COL12A1):c.1133A>G (p.His378Arg) rs1210901422 0.00001
NM_004370.6(COL12A1):c.1135G>C (p.Ala379Pro) rs779083996 0.00001
NM_004370.6(COL12A1):c.113A>C (p.Glu38Ala) rs200828190 0.00001
NM_004370.6(COL12A1):c.1148G>C (p.Gly383Ala) rs1310849098 0.00001
NM_004370.6(COL12A1):c.1150C>T (p.Pro384Ser) rs370952607 0.00001
NM_004370.6(COL12A1):c.1174C>T (p.Arg392Cys) rs970722197 0.00001
NM_004370.6(COL12A1):c.1176C>T (p.Arg392=) rs751787368 0.00001
NM_004370.6(COL12A1):c.1177G>A (p.Asp393Asn) rs369309158 0.00001
NM_004370.6(COL12A1):c.118A>G (p.Thr40Ala) rs201343487 0.00001
NM_004370.6(COL12A1):c.1216G>A (p.Ala406Thr) rs377285294 0.00001
NM_004370.6(COL12A1):c.1239T>C (p.Ser413=) rs1769468260 0.00001
NM_004370.6(COL12A1):c.1289-3C>T rs375570066 0.00001
NM_004370.6(COL12A1):c.1300G>A (p.Gly434Ser) rs771816024 0.00001
NM_004370.6(COL12A1):c.1301G>A (p.Gly434Asp) rs759184281 0.00001
NM_004370.6(COL12A1):c.1318G>A (p.Asp440Asn) rs563331592 0.00001
NM_004370.6(COL12A1):c.1344C>T (p.Ser448=) rs1004269418 0.00001
NM_004370.6(COL12A1):c.1365C>T (p.Asn455=) rs192004528 0.00001
NM_004370.6(COL12A1):c.1375G>A (p.Val459Ile) rs368199250 0.00001
NM_004370.6(COL12A1):c.1416T>C (p.Ile472=) rs1242358815 0.00001
NM_004370.6(COL12A1):c.1433A>T (p.Gln478Leu) rs770461984 0.00001
NM_004370.6(COL12A1):c.1434G>C (p.Gln478His) rs762385473 0.00001
NM_004370.6(COL12A1):c.1445T>G (p.Val482Gly) rs1445434863 0.00001
NM_004370.6(COL12A1):c.1452C>T (p.Tyr484=) rs769824937 0.00001
NM_004370.6(COL12A1):c.1456C>T (p.Arg486Trp) rs371505180 0.00001
NM_004370.6(COL12A1):c.1457G>A (p.Arg486Gln) rs768545712 0.00001
NM_004370.6(COL12A1):c.1492A>G (p.Thr498Ala) rs753897086 0.00001
NM_004370.6(COL12A1):c.1564G>A (p.Ala522Thr) rs1292052246 0.00001
NM_004370.6(COL12A1):c.1575T>C (p.Tyr525=) rs748722008 0.00001
NM_004370.6(COL12A1):c.1616G>A (p.Ser539Asn) rs1169546055 0.00001
NM_004370.6(COL12A1):c.1620T>A (p.Asn540Lys) rs1440470491 0.00001
NM_004370.6(COL12A1):c.1667C>T (p.Ala556Val) rs538463802 0.00001
NM_004370.6(COL12A1):c.1678C>A (p.Pro560Thr) rs775466928 0.00001
NM_004370.6(COL12A1):c.1738G>A (p.Val580Ile) rs758637945 0.00001
NM_004370.6(COL12A1):c.1761T>C (p.Ile587=) rs1769411353 0.00001
NM_004370.6(COL12A1):c.1772C>G (p.Pro591Arg) rs752633980 0.00001
NM_004370.6(COL12A1):c.177G>A (p.Val59=) rs772158281 0.00001
NM_004370.6(COL12A1):c.1782C>T (p.Thr594=) rs552726593 0.00001
NM_004370.6(COL12A1):c.1783C>A (p.His595Asn) rs370544100 0.00001
NM_004370.6(COL12A1):c.1831G>C (p.Glu611Gln) rs1478514196 0.00001
NM_004370.6(COL12A1):c.1841A>C (p.Gln614Pro) rs1202194413 0.00001
NM_004370.6(COL12A1):c.18C>T (p.Pro6=) rs1427431369 0.00001
NM_004370.6(COL12A1):c.191-12T>C rs772991479 0.00001
NM_004370.6(COL12A1):c.1934C>T (p.Ser645Phe) rs1031869609 0.00001
NM_004370.6(COL12A1):c.1997A>G (p.Tyr666Cys) rs760872362 0.00001
NM_004370.6(COL12A1):c.200C>G (p.Thr67Ser) rs1436987187 0.00001
NM_004370.6(COL12A1):c.2032G>A (p.Val678Met) rs749609293 0.00001
NM_004370.6(COL12A1):c.2070C>T (p.Ser690=) rs779972390 0.00001
NM_004370.6(COL12A1):c.2083A>G (p.Thr695Ala) rs758201181 0.00001
NM_004370.6(COL12A1):c.2094G>C (p.Leu698Phe) rs756368336 0.00001
NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val) rs1013873051 0.00001
NM_004370.6(COL12A1):c.2109G>A (p.Ala703=) rs759595683 0.00001
NM_004370.6(COL12A1):c.214C>A (p.Leu72Ile) rs1318884120 0.00001
NM_004370.6(COL12A1):c.2164+18C>A rs183023584 0.00001
NM_004370.6(COL12A1):c.2180G>A (p.Arg727Gln) rs775023310 0.00001
NM_004370.6(COL12A1):c.2196A>G (p.Thr732=) rs770644269 0.00001
NM_004370.6(COL12A1):c.224G>A (p.Ser75Asn) rs1198986280 0.00001
NM_004370.6(COL12A1):c.2256A>G (p.Arg752=) rs370677855 0.00001
NM_004370.6(COL12A1):c.2288G>A (p.Gly763Glu) rs770965835 0.00001
NM_004370.6(COL12A1):c.2324G>A (p.Arg775Lys) rs1341266694 0.00001
NM_004370.6(COL12A1):c.2334A>G (p.Thr778=) rs1582185053 0.00001
NM_004370.6(COL12A1):c.2340G>T (p.Glu780Asp) rs931765391 0.00001
NM_004370.6(COL12A1):c.2373T>C (p.Ser791=) rs752359605 0.00001
NM_004370.6(COL12A1):c.2396G>A (p.Gly799Glu) rs772979149 0.00001
NM_004370.6(COL12A1):c.2410T>G (p.Leu804Val) rs769631929 0.00001
NM_004370.6(COL12A1):c.244T>G (p.Ser82Ala) rs941358850 0.00001
NM_004370.6(COL12A1):c.2477C>T (p.Thr826Met) rs1369556861 0.00001
NM_004370.6(COL12A1):c.2478G>A (p.Thr826=) rs781557444 0.00001
NM_004370.6(COL12A1):c.250C>G (p.Leu84Val) rs770970810 0.00001
NM_004370.6(COL12A1):c.2513C>T (p.Pro838Leu) rs368537733 0.00001
NM_004370.6(COL12A1):c.2522T>A (p.Val841Glu) rs375671490 0.00001
NM_004370.6(COL12A1):c.2577C>T (p.Val859=) rs902436577 0.00001
NM_004370.6(COL12A1):c.2581G>A (p.Val861Met) rs780466316 0.00001
NM_004370.6(COL12A1):c.2592T>G (p.Asp864Glu) rs539562135 0.00001
NM_004370.6(COL12A1):c.2632C>T (p.Gln878Ter) rs765303183 0.00001
NM_004370.6(COL12A1):c.2638G>A (p.Ala880Thr) rs568432319 0.00001
NM_004370.6(COL12A1):c.2654C>G (p.Ala885Gly) rs371518967 0.00001
NM_004370.6(COL12A1):c.2664G>A (p.Ala888=) rs756052823 0.00001
NM_004370.6(COL12A1):c.2680G>A (p.Ala894Thr) rs1415214085 0.00001
NM_004370.6(COL12A1):c.2739T>C (p.Thr913=) rs1420771479 0.00001
NM_004370.6(COL12A1):c.2744A>T (p.Asp915Val) rs774904567 0.00001
NM_004370.6(COL12A1):c.2770T>C (p.Tyr924His) rs1768261055 0.00001
NM_004370.6(COL12A1):c.2787A>T (p.Pro929=) rs780559642 0.00001
NM_004370.6(COL12A1):c.2823A>G (p.Ser941=) rs760141819 0.00001
NM_004370.6(COL12A1):c.2835T>C (p.Asp945=) rs777357134 0.00001
NM_004370.6(COL12A1):c.2890A>C (p.Asn964His) rs370188326 0.00001
NM_004370.6(COL12A1):c.289T>C (p.Tyr97His) rs1477957297 0.00001
NM_004370.6(COL12A1):c.2933C>G (p.Thr978Ser) rs944768236 0.00001
NM_004370.6(COL12A1):c.2983+5G>A rs1064794720 0.00001
NM_004370.6(COL12A1):c.2984-3C>T rs1394199507 0.00001
NM_004370.6(COL12A1):c.3009A>G (p.Lys1003=) rs910433493 0.00001
NM_004370.6(COL12A1):c.3044C>A (p.Thr1015Lys) rs774087407 0.00001
NM_004370.6(COL12A1):c.3079C>T (p.Arg1027Cys) rs760621245 0.00001
NM_004370.6(COL12A1):c.3092G>A (p.Arg1031His) rs752304678 0.00001
NM_004370.6(COL12A1):c.3130C>G (p.Pro1044Ala) rs200490883 0.00001
NM_004370.6(COL12A1):c.3149C>T (p.Thr1050Ile) rs1376226675 0.00001
NM_004370.6(COL12A1):c.3176C>A (p.Thr1059Asn) rs778135297 0.00001
NM_004370.6(COL12A1):c.32C>T (p.Ala11Val) rs751589202 0.00001
NM_004370.6(COL12A1):c.3310C>T (p.Arg1104Ter) rs1329022055 0.00001
NM_004370.6(COL12A1):c.334+8C>T rs1359112911 0.00001
NM_004370.6(COL12A1):c.3341T>C (p.Val1114Ala) rs1767720355 0.00001
NM_004370.6(COL12A1):c.3346G>T (p.Gly1116Cys) rs1337121359 0.00001
NM_004370.6(COL12A1):c.335-16T>C rs1286151975 0.00001
NM_004370.6(COL12A1):c.3374G>A (p.Gly1125Glu) rs1029379585 0.00001
NM_004370.6(COL12A1):c.3396G>A (p.Glu1132=) rs1420617553 0.00001
NM_004370.6(COL12A1):c.3443+10A>T rs1217280037 0.00001
NM_004370.6(COL12A1):c.3443+15C>T rs762336310 0.00001
NM_004370.6(COL12A1):c.3444-8C>T rs765303217 0.00001
NM_004370.6(COL12A1):c.344G>A (p.Gly115Asp) rs749832842 0.00001
NM_004370.6(COL12A1):c.3485A>T (p.Asp1162Val) rs770692332 0.00001
NM_004370.6(COL12A1):c.3508G>A (p.Val1170Ile) rs201542066 0.00001
NM_004370.6(COL12A1):c.350C>T (p.Ser117Leu) rs753747530 0.00001
NM_004370.6(COL12A1):c.3527C>A (p.Thr1176Asn) rs1003693918 0.00001
NM_004370.6(COL12A1):c.3535G>A (p.Asp1179Asn) rs370641424 0.00001
NM_004370.6(COL12A1):c.3566G>A (p.Gly1189Glu) rs990441297 0.00001
NM_004370.6(COL12A1):c.3592G>A (p.Ala1198Thr) rs752018748 0.00001
NM_004370.6(COL12A1):c.3634C>T (p.Arg1212Trp) rs746929943 0.00001
NM_004370.6(COL12A1):c.363G>A (p.Val121=) rs559388395 0.00001
NM_004370.6(COL12A1):c.3670C>T (p.Arg1224Cys) rs748277540 0.00001
NM_004370.6(COL12A1):c.3676G>A (p.Val1226Met) rs1305647848 0.00001
NM_004370.6(COL12A1):c.3729T>C (p.Tyr1243=) rs374534617 0.00001
NM_004370.6(COL12A1):c.3798G>C (p.Val1266=) rs1210652893 0.00001
NM_004370.6(COL12A1):c.3801A>G (p.Ala1267=) rs770806561 0.00001
NM_004370.6(COL12A1):c.3810G>A (p.Pro1270=) rs370675782 0.00001
NM_004370.6(COL12A1):c.383C>T (p.Thr128Ile) rs751811370 0.00001
NM_004370.6(COL12A1):c.3856C>T (p.Arg1286Cys) rs764448554 0.00001
NM_004370.6(COL12A1):c.3872G>A (p.Arg1291Lys) rs1194355123 0.00001
NM_004370.6(COL12A1):c.3901C>T (p.Arg1301Ter) rs1304140510 0.00001
NM_004370.6(COL12A1):c.3905A>G (p.Lys1302Arg) rs1179021269 0.00001
NM_004370.6(COL12A1):c.3921T>C (p.Ile1307=) rs531318332 0.00001
NM_004370.6(COL12A1):c.3967C>G (p.Leu1323Val) rs759722280 0.00001
NM_004370.6(COL12A1):c.3974A>T (p.Asp1325Val) rs371419803 0.00001
NM_004370.6(COL12A1):c.4010A>G (p.Asn1337Ser) rs1187079906 0.00001
NM_004370.6(COL12A1):c.401C>T (p.Ser134Phe) rs1346687171 0.00001
NM_004370.6(COL12A1):c.4023C>T (p.Val1341=) rs751690563 0.00001
NM_004370.6(COL12A1):c.403G>T (p.Val135Phe) rs377551270 0.00001
NM_004370.6(COL12A1):c.4052A>G (p.Asp1351Gly) rs1295465247 0.00001
NM_004370.6(COL12A1):c.4098G>A (p.Arg1366=) rs771642899 0.00001
NM_004370.6(COL12A1):c.4143T>C (p.Gly1381=) rs1171598389 0.00001
NM_004370.6(COL12A1):c.4148G>A (p.Gly1383Asp) rs1183950908 0.00001
NM_004370.6(COL12A1):c.417T>A (p.Thr139=) rs777652114 0.00001
NM_004370.6(COL12A1):c.424G>A (p.Val142Ile) rs772461470 0.00001
NM_004370.6(COL12A1):c.4286A>T (p.Glu1429Val) rs1056626609 0.00001
NM_004370.6(COL12A1):c.4288-6C>T rs768371908 0.00001
NM_004370.6(COL12A1):c.42G>A (p.Ala14=) rs758961396 0.00001
NM_004370.6(COL12A1):c.4317A>G (p.Thr1439=) rs749367997 0.00001
NM_004370.6(COL12A1):c.432C>T (p.Leu144=) rs528524927 0.00001
NM_004370.6(COL12A1):c.4359T>C (p.Asn1453=) rs749957138 0.00001
NM_004370.6(COL12A1):c.4371G>T (p.Val1457=) rs761741355 0.00001
NM_004370.6(COL12A1):c.4417+15_4417+19del rs768514093 0.00001
NM_004370.6(COL12A1):c.4418-1G>A rs984784417 0.00001
NM_004370.6(COL12A1):c.441C>T (p.Gly147=) rs370007721 0.00001
NM_004370.6(COL12A1):c.4420C>T (p.Pro1474Ser) rs750010185 0.00001
NM_004370.6(COL12A1):c.4425G>A (p.Val1475=) rs372904002 0.00001
NM_004370.6(COL12A1):c.4428T>C (p.Pro1476=) rs1554182178 0.00001
NM_004370.6(COL12A1):c.4457G>T (p.Gly1486Val) rs1353013260 0.00001
NM_004370.6(COL12A1):c.4459C>T (p.Pro1487Ser) rs1220345277 0.00001
NM_004370.6(COL12A1):c.4476G>A (p.Val1492=) rs1267756642 0.00001
NM_004370.6(COL12A1):c.44C>T (p.Ala15Val) rs1267769116 0.00001
NM_004370.6(COL12A1):c.4531A>G (p.Lys1511Glu) rs763614780 0.00001
NM_004370.6(COL12A1):c.4556A>T (p.Lys1519Ile) rs767232468 0.00001
NM_004370.6(COL12A1):c.4560+10G>C rs372490462 0.00001
NM_004370.6(COL12A1):c.4561-15C>T rs777154641 0.00001
NM_004370.6(COL12A1):c.4561-4G>A rs148650016 0.00001
NM_004370.6(COL12A1):c.4627G>A (p.Val1543Ile) rs771220392 0.00001
NM_004370.6(COL12A1):c.4651G>A (p.Asp1551Asn) rs76453279 0.00001
NM_004370.6(COL12A1):c.4653C>A (p.Asp1551Glu) rs74383804 0.00001
NM_004370.6(COL12A1):c.4657A>T (p.Thr1553Ser) rs1044813586 0.00001
NM_004370.6(COL12A1):c.4661G>A (p.Ser1554Asn) rs780006734 0.00001
NM_004370.6(COL12A1):c.4690+7T>C rs1364868781 0.00001
NM_004370.6(COL12A1):c.4690+8A>T rs760044445 0.00001
NM_004370.6(COL12A1):c.4698A>G (p.Leu1566=) rs1429126907 0.00001
NM_004370.6(COL12A1):c.4713T>A (p.Asp1571Glu) rs1246397590 0.00001
NM_004370.6(COL12A1):c.4737C>T (p.His1579=) rs765450196 0.00001
NM_004370.6(COL12A1):c.4759G>C (p.Glu1587Gln) rs775117257 0.00001
NM_004370.6(COL12A1):c.4773A>G (p.Gly1591=) rs1464793469 0.00001
NM_004370.6(COL12A1):c.4788T>C (p.Tyr1596=) rs749072028 0.00001
NM_004370.6(COL12A1):c.4789A>G (p.Ile1597Val) rs1172593477 0.00001
NM_004370.6(COL12A1):c.4796G>A (p.Arg1599Gln) rs781463654 0.00001
NM_004370.6(COL12A1):c.4797A>T (p.Arg1599=) rs1025841228 0.00001
NM_004370.6(COL12A1):c.4801A>G (p.Lys1601Glu) rs751657895 0.00001
NM_004370.6(COL12A1):c.4827+16T>C rs535965773 0.00001
NM_004370.6(COL12A1):c.4864A>G (p.Lys1622Glu) rs754277446 0.00001
NM_004370.6(COL12A1):c.4885T>C (p.Leu1629=) rs767188736 0.00001
NM_004370.6(COL12A1):c.4893A>G (p.Thr1631=) rs1219807352 0.00001
NM_004370.6(COL12A1):c.4899C>T (p.Ser1633=) rs762832336 0.00001
NM_004370.6(COL12A1):c.4957+10G>C rs1172874533 0.00001
NM_004370.6(COL12A1):c.4991C>A (p.Thr1664Asn) rs754587593 0.00001
NM_004370.6(COL12A1):c.5004A>G (p.Ser1668=) rs1301829570 0.00001
NM_004370.6(COL12A1):c.5034A>C (p.Gly1678=) rs757968333 0.00001
NM_004370.6(COL12A1):c.5098-14C>T rs370402417 0.00001
NM_004370.6(COL12A1):c.5098-5C>T rs766762283 0.00001
NM_004370.6(COL12A1):c.511G>C (p.Asp171His) rs748076280 0.00001
NM_004370.6(COL12A1):c.5134G>A (p.Glu1712Lys) rs778415707 0.00001
NM_004370.6(COL12A1):c.515T>C (p.Ile172Thr) rs780886772 0.00001
NM_004370.6(COL12A1):c.5174C>T (p.Thr1725Ile) rs370108747 0.00001
NM_004370.6(COL12A1):c.5184T>C (p.Tyr1728=) rs767349975 0.00001
NM_004370.6(COL12A1):c.5185C>T (p.Pro1729Ser) rs1329724602 0.00001
NM_004370.6(COL12A1):c.5187T>A (p.Pro1729=) rs763294691 0.00001
NM_004370.6(COL12A1):c.5202T>A (p.Ser1734Arg) rs377226722 0.00001
NM_004370.6(COL12A1):c.5230+1G>A rs1274606112 0.00001
NM_004370.6(COL12A1):c.5251+4A>G rs781348212 0.00001
NM_004370.6(COL12A1):c.5252-12A>C rs747721408 0.00001
NM_004370.6(COL12A1):c.5274C>A (p.Asn1758Lys) rs374747725 0.00001
NM_004370.6(COL12A1):c.5309C>T (p.Thr1770Ile) rs201205563 0.00001
NM_004370.6(COL12A1):c.5335C>T (p.Arg1779Cys) rs760210784 0.00001
NM_004370.6(COL12A1):c.5348A>G (p.Tyr1783Cys) rs368526865 0.00001
NM_004370.6(COL12A1):c.5352G>A (p.Arg1784=) rs1372127467 0.00001
NM_004370.6(COL12A1):c.5373A>T (p.Thr1791=) rs1422128161 0.00001
NM_004370.6(COL12A1):c.5415G>A (p.Gln1805=) rs750914354 0.00001
NM_004370.6(COL12A1):c.5432A>G (p.Gln1811Arg) rs558214604 0.00001
NM_004370.6(COL12A1):c.5458A>G (p.Thr1820Ala) rs1461567926 0.00001
NM_004370.6(COL12A1):c.5462T>C (p.Ile1821Thr) rs1464239210 0.00001
NM_004370.6(COL12A1):c.5510G>A (p.Gly1837Glu) rs757825778 0.00001
NM_004370.6(COL12A1):c.5515G>A (p.Gly1839Ser) rs749681990 0.00001
NM_004370.6(COL12A1):c.5563C>A (p.Pro1855Thr) rs1479368774 0.00001
NM_004370.6(COL12A1):c.5564C>G (p.Pro1855Arg) rs371970739 0.00001
NM_004370.6(COL12A1):c.5569A>G (p.Thr1857Ala) rs750426294 0.00001
NM_004370.6(COL12A1):c.5570C>T (p.Thr1857Ile) rs1239883407 0.00001
NM_004370.6(COL12A1):c.5603A>G (p.Glu1868Gly) rs1370422060 0.00001
NM_004370.6(COL12A1):c.5614C>T (p.Arg1872Cys) rs773807635 0.00001
NM_004370.6(COL12A1):c.5620T>C (p.Tyr1874His) rs1766439644 0.00001
NM_004370.6(COL12A1):c.5629T>G (p.Phe1877Val) rs1416074718 0.00001
NM_004370.6(COL12A1):c.562A>G (p.Thr188Ala) rs767796362 0.00001
NM_004370.6(COL12A1):c.5664+14G>T rs371510068 0.00001
NM_004370.6(COL12A1):c.5676C>T (p.Pro1892=) rs200130428 0.00001
NM_004370.6(COL12A1):c.569C>A (p.Thr190Asn) rs759905934 0.00001
NM_004370.6(COL12A1):c.5724A>G (p.Ser1908=) rs369481796 0.00001
NM_004370.6(COL12A1):c.5795-14C>T rs1178311224 0.00001
NM_004370.6(COL12A1):c.5795-5C>T rs768037406 0.00001
NM_004370.6(COL12A1):c.5816A>C (p.Asn1939Thr) rs1162295476 0.00001
NM_004370.6(COL12A1):c.5859C>T (p.Arg1953=) rs534462036 0.00001
NM_004370.6(COL12A1):c.5873C>G (p.Pro1958Arg) rs755452261 0.00001
NM_004370.6(COL12A1):c.5876G>A (p.Gly1959Glu) rs1179773170 0.00001
NM_004370.6(COL12A1):c.5888A>G (p.Gln1963Arg) rs1766321428 0.00001
NM_004370.6(COL12A1):c.5889A>G (p.Gln1963=) rs374671225 0.00001
NM_004370.6(COL12A1):c.589T>C (p.Tyr197His) rs1769820873 0.00001
NM_004370.6(COL12A1):c.5938-7C>T rs1343757913 0.00001
NM_004370.6(COL12A1):c.5940A>G (p.Ile1980Met) rs376487916 0.00001
NM_004370.6(COL12A1):c.5957C>T (p.Thr1986Met) rs768824483 0.00001
NM_004370.6(COL12A1):c.5977C>T (p.Arg1993Trp) rs199501842 0.00001
NM_004370.6(COL12A1):c.5978G>A (p.Arg1993Gln) rs748657616 0.00001
NM_004370.6(COL12A1):c.5987C>T (p.Pro1996Leu) rs752189896 0.00001
NM_004370.6(COL12A1):c.6003C>T (p.Ser2001=) rs762626921 0.00001
NM_004370.6(COL12A1):c.6004G>A (p.Val2002Met) rs181357263 0.00001
NM_004370.6(COL12A1):c.6011T>C (p.Leu2004Pro) rs1023244422 0.00001
NM_004370.6(COL12A1):c.6026C>T (p.Ser2009Leu) rs776981761 0.00001
NM_004370.6(COL12A1):c.6080G>A (p.Gly2027Glu) rs780058273 0.00001
NM_004370.6(COL12A1):c.6100T>C (p.Phe2034Leu) rs1488658209 0.00001
NM_004370.6(COL12A1):c.6105T>A (p.Gly2035=) rs764896298 0.00001
NM_004370.6(COL12A1):c.6114C>A (p.Thr2038=) rs1248355913 0.00001
NM_004370.6(COL12A1):c.6116A>G (p.Asn2039Ser) rs202186932 0.00001
NM_004370.6(COL12A1):c.6148G>T (p.Gly2050Trp) rs947116571 0.00001
NM_004370.6(COL12A1):c.6152C>T (p.Pro2051Leu) rs373325814 0.00001
NM_004370.6(COL12A1):c.6187G>A (p.Val2063Ile) rs1385786827 0.00001
NM_004370.6(COL12A1):c.6211-4A>G rs762268779 0.00001
NM_004370.6(COL12A1):c.6211A>G (p.Thr2071Ala) rs1390899930 0.00001
NM_004370.6(COL12A1):c.622A>C (p.Lys208Gln) rs1769819268 0.00001
NM_004370.6(COL12A1):c.6295T>G (p.Tyr2099Asp) rs1366474005 0.00001
NM_004370.6(COL12A1):c.6340+12G>A rs749187959 0.00001
NM_004370.6(COL12A1):c.6340+19C>T rs1244591730 0.00001
NM_004370.6(COL12A1):c.6358C>G (p.Gln2120Glu) rs1366573056 0.00001
NM_004370.6(COL12A1):c.6370A>G (p.Ile2124Val) rs1339963289 0.00001
NM_004370.6(COL12A1):c.6422C>T (p.Ser2141Phe) rs772205982 0.00001
NM_004370.6(COL12A1):c.6427G>C (p.Val2143Leu) rs186836845 0.00001
NM_004370.6(COL12A1):c.6473C>T (p.Pro2158Leu) rs1467078008 0.00001
NM_004370.6(COL12A1):c.6540C>T (p.Tyr2180=) rs372703375 0.00001
NM_004370.6(COL12A1):c.6549T>A (p.Asn2183Lys) rs776701367 0.00001
NM_004370.6(COL12A1):c.6561A>G (p.Gln2187=) rs763927693 0.00001
NM_004370.6(COL12A1):c.6627T>C (p.Asp2209=) rs1458129254 0.00001
NM_004370.6(COL12A1):c.6652G>C (p.Asp2218His) rs374545461 0.00001
NM_004370.6(COL12A1):c.6710T>C (p.Leu2237Pro) rs1298620930 0.00001
NM_004370.6(COL12A1):c.6724+13A>G rs757071502 0.00001
NM_004370.6(COL12A1):c.6744T>C (p.Ile2248=) rs1420789055 0.00001
NM_004370.6(COL12A1):c.6774C>T (p.Cys2258=) rs781120781 0.00001
NM_004370.6(COL12A1):c.6814G>A (p.Val2272Ile) rs1158867383 0.00001
NM_004370.6(COL12A1):c.6837C>T (p.Leu2279=) rs754181144 0.00001
NM_004370.6(COL12A1):c.6859A>G (p.Lys2287Glu) rs775646975 0.00001
NM_004370.6(COL12A1):c.6874G>A (p.Val2292Met) rs1434449708 0.00001
NM_004370.6(COL12A1):c.6891C>T (p.Ala2297=) rs1189256592 0.00001
NM_004370.6(COL12A1):c.6917C>T (p.Pro2306Leu) rs1302398240 0.00001
NM_004370.6(COL12A1):c.6941G>A (p.Arg2314Gln) rs374405599 0.00001
NM_004370.6(COL12A1):c.7009G>A (p.Asp2337Asn) rs772161963 0.00001
NM_004370.6(COL12A1):c.7019A>G (p.Asn2340Ser) rs1474542485 0.00001
NM_004370.6(COL12A1):c.7024G>A (p.Val2342Ile) rs745852751 0.00001
NM_004370.6(COL12A1):c.70G>A (p.Glu24Lys) rs1233096096 0.00001
NM_004370.6(COL12A1):c.7152G>A (p.Lys2384=) rs1227090004 0.00001
NM_004370.6(COL12A1):c.7154C>T (p.Ala2385Val) rs372896052 0.00001
NM_004370.6(COL12A1):c.7210+4T>G rs201950823 0.00001
NM_004370.6(COL12A1):c.7210+9A>G rs369099620 0.00001
NM_004370.6(COL12A1):c.7211-3T>C rs766034760 0.00001
NM_004370.6(COL12A1):c.7224G>A (p.Thr2408=) rs368333381 0.00001
NM_004370.6(COL12A1):c.7250G>T (p.Trp2417Leu) rs755614789 0.00001
NM_004370.6(COL12A1):c.7269G>A (p.Lys2423=) rs776372586 0.00001
NM_004370.6(COL12A1):c.7318G>A (p.Glu2440Lys) rs781647177 0.00001
NM_004370.6(COL12A1):c.74-19T>C rs564822630 0.00001
NM_004370.6(COL12A1):c.7433G>A (p.Arg2478Gln) rs747410893 0.00001
NM_004370.6(COL12A1):c.7437C>T (p.His2479=) rs775670738 0.00001
NM_004370.6(COL12A1):c.7446T>C (p.Ile2482=) rs745549241 0.00001
NM_004370.6(COL12A1):c.7452C>T (p.Asp2484=) rs778626937 0.00001
NM_004370.6(COL12A1):c.746C>T (p.Thr249Met) rs572216195 0.00001
NM_004370.6(COL12A1):c.7476C>T (p.Ile2492=) rs895079123 0.00001
NM_004370.6(COL12A1):c.7477G>A (p.Glu2493Lys) rs372985511 0.00001
NM_004370.6(COL12A1):c.747G>A (p.Thr249=) rs553802363 0.00001
NM_004370.6(COL12A1):c.7485T>A (p.Asn2495Lys) rs777688811 0.00001
NM_004370.6(COL12A1):c.7491T>C (p.Ile2497=) rs1157317368 0.00001
NM_004370.6(COL12A1):c.74T>C (p.Val25Ala) rs770874037 0.00001
NM_004370.6(COL12A1):c.75T>C (p.Val25=) rs749054316 0.00001
NM_004370.6(COL12A1):c.7676C>T (p.Ala2559Val) rs761234963 0.00001
NM_004370.6(COL12A1):c.7697C>T (p.Ala2566Val) rs780133855 0.00001
NM_004370.6(COL12A1):c.769G>C (p.Val257Leu) rs775522044 0.00001
NM_004370.6(COL12A1):c.7721C>G (p.Pro2574Arg) rs770613686 0.00001
NM_004370.6(COL12A1):c.7722T>C (p.Pro2574=) rs748445921 0.00001
NM_004370.6(COL12A1):c.7738A>G (p.Ile2580Val) rs781269301 0.00001
NM_004370.6(COL12A1):c.7804A>G (p.Arg2602Gly) rs1263587165 0.00001
NM_004370.6(COL12A1):c.7813A>C (p.Lys2605Gln) rs200751269 0.00001
NM_004370.6(COL12A1):c.7816C>T (p.Pro2606Ser) rs994920789 0.00001
NM_004370.6(COL12A1):c.7832T>C (p.Ile2611Thr) rs767580803 0.00001
NM_004370.6(COL12A1):c.7884C>T (p.Gly2628=) rs747657598 0.00001
NM_004370.6(COL12A1):c.7915G>A (p.Glu2639Lys) rs1384761865 0.00001
NM_004370.6(COL12A1):c.7918G>A (p.Val2640Ile) rs775684324 0.00001
NM_004370.6(COL12A1):c.7927T>G (p.Leu2643Val) rs199660424 0.00001
NM_004370.6(COL12A1):c.7950+9A>G rs778327157 0.00001
NM_004370.6(COL12A1):c.801T>C (p.Val267=) rs781375448 0.00001
NM_004370.6(COL12A1):c.804A>G (p.Gly268=) rs754993343 0.00001
NM_004370.6(COL12A1):c.8059A>T (p.Ile2687Phe) rs1391973492 0.00001
NM_004370.6(COL12A1):c.8097C>T (p.Ala2699=) rs367966608 0.00001
NM_004370.6(COL12A1):c.8100+14T>A rs750417570 0.00001
NM_004370.6(COL12A1):c.8101-16T>C rs757858823 0.00001
NM_004370.6(COL12A1):c.810A>G (p.Glu270=) rs1326391180 0.00001
NM_004370.6(COL12A1):c.8183A>T (p.Asp2728Val) rs749287325 0.00001
NM_004370.6(COL12A1):c.8266-10T>C rs377345950 0.00001
NM_004370.6(COL12A1):c.8286T>C (p.Gly2762=) rs780813814 0.00001
NM_004370.6(COL12A1):c.8290A>G (p.Arg2764Gly) rs1011310040 0.00001
NM_004370.6(COL12A1):c.8358C>T (p.Gly2786=) rs767957084 0.00001
NM_004370.6(COL12A1):c.8369C>T (p.Pro2790Leu) rs755342579 0.00001
NM_004370.6(COL12A1):c.8370T>C (p.Pro2790=) rs553998601 0.00001
NM_004370.6(COL12A1):c.8441C>G (p.Ala2814Gly) rs368105517 0.00001
NM_004370.6(COL12A1):c.8470-3C>A rs1169467662 0.00001
NM_004370.6(COL12A1):c.8470-5T>G rs776830409 0.00001
NM_004370.6(COL12A1):c.8494C>T (p.Pro2832Ser) rs376931672 0.00001
NM_004370.6(COL12A1):c.8495C>G (p.Pro2832Arg) rs779184954 0.00001
NM_004370.6(COL12A1):c.8523+8T>C rs752217139 0.00001
NM_004370.6(COL12A1):c.8524-3T>C rs755782718 0.00001
NM_004370.6(COL12A1):c.8565A>G (p.Pro2855=) rs202239067 0.00001
NM_004370.6(COL12A1):c.8577+14G>A rs775776703 0.00001
NM_004370.6(COL12A1):c.8579G>C (p.Gly2860Ala) rs758378155 0.00001
NM_004370.6(COL12A1):c.8649+7G>A rs1274498192 0.00001
NM_004370.6(COL12A1):c.8671G>A (p.Glu2891Lys) rs1381259753 0.00001
NM_004370.6(COL12A1):c.8711T>C (p.Met2904Thr) rs1427337137 0.00001
NM_004370.6(COL12A1):c.8743T>C (p.Leu2915=) rs376238729 0.00001
NM_004370.6(COL12A1):c.8753G>T (p.Gly2918Val) rs769818518 0.00001
NM_004370.6(COL12A1):c.8812C>T (p.Arg2938Cys) rs778941390 0.00001
NM_004370.6(COL12A1):c.8857G>T (p.Ala2953Ser) rs201760746 0.00001
NM_004370.6(COL12A1):c.886G>A (p.Val296Ile) rs1273649550 0.00001
NM_004370.6(COL12A1):c.8885G>C (p.Gly2962Ala) rs761885492 0.00001
NM_004370.6(COL12A1):c.8902C>T (p.Pro2968Ser) rs1216270127 0.00001
NM_004370.6(COL12A1):c.8903C>T (p.Pro2968Leu) rs771010070 0.00001
NM_004370.6(COL12A1):c.8927C>A (p.Pro2976His) rs748714098 0.00001
NM_004370.6(COL12A1):c.8990G>A (p.Arg2997Gln) rs778638053 0.00001
NM_004370.6(COL12A1):c.9041C>T (p.Pro3014Leu) rs751306147 0.00001
NM_004370.6(COL12A1):c.912A>G (p.Ala304=) rs767135101 0.00001
NM_004370.6(COL12A1):c.938T>C (p.Ile313Thr) rs774136306 0.00001
NM_004370.6(COL12A1):c.979T>C (p.Leu327=) rs768698427 0.00001
NM_004370.6(COL12A1):c.997+6T>C rs377225744 0.00001
NM_004370.6(COL12A1):c.997G>A (p.Val333Ile) rs1426761655 0.00001
NM_004393.6(DAG1):c.1014C>T (p.Ile338=) rs773685771 0.00001
NM_004393.6(DAG1):c.1015G>A (p.Val339Met) rs763537489 0.00001
NM_004393.6(DAG1):c.1067C>T (p.Pro356Leu) rs757225645 0.00001
NM_004393.6(DAG1):c.1088C>T (p.Pro363Leu) rs2051348754 0.00001
NM_004393.6(DAG1):c.1100C>T (p.Thr367Met) rs746712913 0.00001
NM_004393.6(DAG1):c.1130T>C (p.Ile377Thr) rs772614314 0.00001
NM_004393.6(DAG1):c.1182C>T (p.Gly394=) rs758186665 0.00001
NM_004393.6(DAG1):c.1193C>G (p.Pro398Arg) rs751173028 0.00001
NM_004393.6(DAG1):c.1206C>T (p.Arg402=) rs886043253 0.00001
NM_004393.6(DAG1):c.1230T>C (p.Tyr410=) rs374625327 0.00001
NM_004393.6(DAG1):c.1315A>G (p.Thr439Ala) rs747370227 0.00001
NM_004393.6(DAG1):c.1320C>T (p.Asp440=) rs377309865 0.00001
NM_004393.6(DAG1):c.1321T>C (p.Ser441Pro) rs899605177 0.00001
NM_004393.6(DAG1):c.1356A>G (p.Lys452=) rs201720631 0.00001
NM_004393.6(DAG1):c.1358C>T (p.Pro453Leu) rs888121881 0.00001
NM_004393.6(DAG1):c.1379C>T (p.Pro460Leu) rs2051359862 0.00001
NM_004393.6(DAG1):c.1382G>A (p.Arg461Gln) rs755343255 0.00001
NM_004393.6(DAG1):c.1401C>T (p.Ser467=) rs1222765845 0.00001
NM_004393.6(DAG1):c.1436G>A (p.Arg479His) rs369458042 0.00001
NM_004393.6(DAG1):c.1441C>T (p.Arg481Cys) rs763653277 0.00001
NM_004393.6(DAG1):c.1445C>T (p.Thr482Ile) rs753581815 0.00001
NM_004393.6(DAG1):c.1466G>A (p.Arg489His) rs373379560 0.00001
NM_004393.6(DAG1):c.1476A>C (p.Glu492Asp) rs1251608960 0.00001
NM_004393.6(DAG1):c.148A>G (p.Met50Val) rs758104540 0.00001
NM_004393.6(DAG1):c.1514G>A (p.Arg505Lys) rs1411304453 0.00001
NM_004393.6(DAG1):c.1543G>A (p.Glu515Lys) rs142703906 0.00001
NM_004393.6(DAG1):c.1621C>T (p.Arg541Trp) rs944959231 0.00001
NM_004393.6(DAG1):c.1622G>A (p.Arg541Gln) rs1425201998 0.00001
NM_004393.6(DAG1):c.1674C>T (p.Ser558=) rs768293578 0.00001
NM_004393.6(DAG1):c.1747G>A (p.Gly583Arg) rs781334046 0.00001
NM_004393.6(DAG1):c.174C>T (p.His58=) rs760114682 0.00001
NM_004393.6(DAG1):c.1751G>T (p.Gly584Val) rs547711379 0.00001
NM_004393.6(DAG1):c.1752C>A (p.Gly584=) rs769750924 0.00001
NM_004393.6(DAG1):c.1756T>C (p.Ser586Pro) rs772951856 0.00001
NM_004393.6(DAG1):c.1774G>A (p.Glu592Lys) rs759029561 0.00001
NM_004393.6(DAG1):c.1785C>T (p.Val595=) rs762148188 0.00001
NM_004393.6(DAG1):c.1792C>T (p.Arg598Cys) rs750567574 0.00001
NM_004393.6(DAG1):c.1793G>A (p.Arg598His) rs201268364 0.00001
NM_004393.6(DAG1):c.1848G>A (p.Pro616=) rs762334457 0.00001
NM_004393.6(DAG1):c.1875G>A (p.Lys625=) rs886042920 0.00001
NM_004393.6(DAG1):c.1892A>G (p.Lys631Arg) rs767737971 0.00001
NM_004393.6(DAG1):c.1905C>T (p.Phe635=) rs577609846 0.00001
NM_004393.6(DAG1):c.1919G>A (p.Arg640Gln) rs753665385 0.00001
NM_004393.6(DAG1):c.1955G>A (p.Arg652Gln) rs368810294 0.00001
NM_004393.6(DAG1):c.1956G>C (p.Arg652=) rs1413224403 0.00001
NM_004393.6(DAG1):c.1962C>T (p.Ser654=) rs373937981 0.00001
NM_004393.6(DAG1):c.2044G>A (p.Ala682Thr) rs561289962 0.00001
NM_004393.6(DAG1):c.2140C>T (p.Arg714Trp) rs751260925 0.00001
NM_004393.6(DAG1):c.2174G>T (p.Arg725Met) rs775808647 0.00001
NM_004393.6(DAG1):c.2195C>T (p.Pro732Leu) rs148514520 0.00001
NM_004393.6(DAG1):c.21C>G (p.Leu7=) rs753007018 0.00001
NM_004393.6(DAG1):c.2200A>C (p.Thr734Pro) rs762713364 0.00001
NM_004393.6(DAG1):c.2201C>G (p.Thr734Arg) rs940802757 0.00001
NM_004393.6(DAG1):c.2240A>T (p.Asp747Val) rs755687939 0.00001
NM_004393.6(DAG1):c.2267C>T (p.Pro756Leu) rs1277865091 0.00001
NM_004393.6(DAG1):c.227G>A (p.Arg76His) rs950805280 0.00001
NM_004393.6(DAG1):c.229T>C (p.Ser77Pro) rs2050743041 0.00001
NM_004393.6(DAG1):c.2307C>G (p.Ile769Met) rs1319468242 0.00001
NM_004393.6(DAG1):c.2314A>G (p.Met772Val) rs1054272302 0.00001
NM_004393.6(DAG1):c.2322C>T (p.Cys774=) rs759442412 0.00001
NM_004393.6(DAG1):c.2336G>A (p.Arg779Gln) rs1283360967 0.00001
NM_004393.6(DAG1):c.2366C>T (p.Ala789Val) rs1426926145 0.00001
NM_004393.6(DAG1):c.2370C>G (p.Thr790=) rs200927931 0.00001
NM_004393.6(DAG1):c.2392A>G (p.Ile798Val) rs1290898131 0.00001
NM_004393.6(DAG1):c.23C>T (p.Ser8Leu) rs199501149 0.00001
NM_004393.6(DAG1):c.2415C>T (p.Asp805=) rs749427996 0.00001
NM_004393.6(DAG1):c.2510C>G (p.Pro837Arg) rs886043326 0.00001
NM_004393.6(DAG1):c.2511C>T (p.Pro837=) rs778665335 0.00001
NM_004393.6(DAG1):c.2552C>T (p.Thr851Met) rs977000024 0.00001
NM_004393.6(DAG1):c.2553G>A (p.Thr851=) rs746978083 0.00001
NM_004393.6(DAG1):c.2556C>A (p.Pro852=) rs140861171 0.00001
NM_004393.6(DAG1):c.2579C>T (p.Ala860Val) rs1192529932 0.00001
NM_004393.6(DAG1):c.2580G>A (p.Ala860=) rs886044253 0.00001
NM_004393.6(DAG1):c.2588A>G (p.Tyr863Cys) rs1436774690 0.00001
NM_004393.6(DAG1):c.2610A>C (p.Thr870=) rs779926178 0.00001
NM_004393.6(DAG1):c.2635C>T (p.Arg879Cys) rs147831615 0.00001
NM_004393.6(DAG1):c.2647A>G (p.Met883Val) rs754908618 0.00001
NM_004393.6(DAG1):c.2652C>A (p.Thr884=) rs762428862 0.00001
NM_004393.6(DAG1):c.286-17G>T rs112776980 0.00001
NM_004393.6(DAG1):c.286-4C>G rs759502746 0.00001
NM_004393.6(DAG1):c.403G>A (p.Ala135Thr) rs774419205 0.00001
NM_004393.6(DAG1):c.403G>T (p.Ala135Ser) rs774419205 0.00001
NM_004393.6(DAG1):c.471C>T (p.Tyr157=) rs148393291 0.00001
NM_004393.6(DAG1):c.483C>T (p.His161=) rs1261901336 0.00001
NM_004393.6(DAG1):c.496T>G (p.Ser166Ala) rs1421891404 0.00001
NM_004393.6(DAG1):c.497C>T (p.Ser166Leu) rs556413209 0.00001
NM_004393.6(DAG1):c.498G>A (p.Ser166=) rs794727500 0.00001
NM_004393.6(DAG1):c.576G>A (p.Thr192=) rs746894568 0.00001
NM_004393.6(DAG1):c.57C>T (p.Leu19=) rs768105958 0.00001
NM_004393.6(DAG1):c.591C>T (p.Ala197=) rs768487898 0.00001
NM_004393.6(DAG1):c.623T>C (p.Ile208Thr) rs772976299 0.00001
NM_004393.6(DAG1):c.643C>T (p.Arg215Trp) rs562046526 0.00001
NM_004393.6(DAG1):c.644G>A (p.Arg215Gln) rs144753260 0.00001
NM_004393.6(DAG1):c.659T>C (p.Val220Ala) rs998718075 0.00001
NM_004393.6(DAG1):c.717G>A (p.Ser239=) rs780120566 0.00001
NM_004393.6(DAG1):c.740A>G (p.Asn247Ser) rs1320232858 0.00001
NM_004393.6(DAG1):c.804G>A (p.Gln268=) rs201713621 0.00001
NM_004393.6(DAG1):c.80C>G (p.Ala27Gly) rs752128921 0.00001
NM_004393.6(DAG1):c.820A>G (p.Ile274Val) rs1281997226 0.00001
NM_004393.6(DAG1):c.852C>T (p.Gly284=) rs377173064 0.00001
NM_004393.6(DAG1):c.888T>C (p.Gly296=) rs777917276 0.00001
NM_004393.6(DAG1):c.932G>A (p.Arg311Gln) rs752813826 0.00001
NM_004393.6(DAG1):c.967G>T (p.Ala323Ser) rs767067590 0.00001
NM_004393.6(DAG1):c.999G>A (p.Glu333=) rs2051345251 0.00001
NM_005198.5(CHKB):c.-13T>C rs2070729352 0.00001
NM_005198.5(CHKB):c.1031+12G>A rs777277938 0.00001
NM_005198.5(CHKB):c.1031+20G>A rs747464297 0.00001
NM_005198.5(CHKB):c.1031+3G>C rs751176079 0.00001
NM_005198.5(CHKB):c.1031+8A>C rs1472273128 0.00001
NM_005198.5(CHKB):c.1032-11C>T rs777009847 0.00001
NM_005198.5(CHKB):c.1032-4C>G rs761155794 0.00001
NM_005198.5(CHKB):c.1114-6C>T rs151123092 0.00001
NM_005198.5(CHKB):c.1114G>C (p.Asp372His) rs1415692835 0.00001
NM_005198.5(CHKB):c.1173C>T (p.Val391=) rs980683552 0.00001
NM_005198.5(CHKB):c.138G>T (p.Glu46Asp) rs752292240 0.00001
NM_005198.5(CHKB):c.170T>G (p.Leu57Trp) rs1460255059 0.00001
NM_005198.5(CHKB):c.17C>T (p.Thr6Ile) rs1555894924 0.00001
NM_005198.5(CHKB):c.204G>A (p.Glu68=) rs1273220759 0.00001
NM_005198.5(CHKB):c.234C>G (p.Leu78=) rs929019284 0.00001
NM_005198.5(CHKB):c.246C>T (p.Leu82=) rs1465614518 0.00001
NM_005198.5(CHKB):c.27C>T (p.Ala9=) rs950364450 0.00001
NM_005198.5(CHKB):c.302T>C (p.Val101Ala) rs1358664458 0.00001
NM_005198.5(CHKB):c.354A>G (p.Leu118=) rs142607228 0.00001
NM_005198.5(CHKB):c.360C>T (p.Ser120=) rs745967029 0.00001
NM_005198.5(CHKB):c.423G>T (p.Glu141Asp) rs766046984 0.00001
NM_005198.5(CHKB):c.42T>A (p.Val14=) rs2070726709 0.00001
NM_005198.5(CHKB):c.432G>A (p.Leu144=) rs1374991317 0.00001
NM_005198.5(CHKB):c.451C>T (p.Arg151Trp) rs148857303 0.00001
NM_005198.5(CHKB):c.516G>A (p.Ala172=) rs200220080 0.00001
NM_005198.5(CHKB):c.633C>T (p.Asn211=) rs963611942 0.00001
NM_005198.5(CHKB):c.63C>T (p.Asp21=) rs763705112 0.00001
NM_005198.5(CHKB):c.641A>G (p.Glu214Gly) rs997259215 0.00001
NM_005198.5(CHKB):c.642G>T (p.Glu214Asp) rs761029141 0.00001
NM_005198.5(CHKB):c.677+16A>G rs777309411 0.00001
NM_005198.5(CHKB):c.678-12A>G rs749813559 0.00001
NM_005198.5(CHKB):c.692C>G (p.Ser231Cys) rs199783402 0.00001
NM_005198.5(CHKB):c.697C>T (p.Pro233Ser) rs1373704548 0.00001
NM_005198.5(CHKB):c.6G>A (p.Ala2=) rs927716556 0.00001
NM_005198.5(CHKB):c.6G>T (p.Ala2=) rs927716556 0.00001
NM_005198.5(CHKB):c.815A>G (p.Tyr272Cys) rs1028826818 0.00001
NM_005198.5(CHKB):c.843T>C (p.Phe281=) rs760833908 0.00001
NM_005198.5(CHKB):c.927+8G>A rs1442580544 0.00001
NM_005198.5(CHKB):c.940C>T (p.Arg314Cys) rs200919604 0.00001
NM_005198.5(CHKB):c.941G>A (p.Arg314His) rs577953900 0.00001
NM_005198.5(CHKB):c.961A>G (p.Lys321Glu) rs143218928 0.00001
NM_005572.3(LMNA):c.-210T>C rs886045356 0.00001
NM_005572.4(LMNA):c.1715G>A (p.Arg572His) rs1158300738 0.00001
NM_005868.6(BET1):c.152T>G (p.Ile51Ser) rs372513869 0.00001
NM_006876.3(B4GAT1):c.1009A>T (p.Thr337Ser) rs1555016408 0.00001
NM_006876.3(B4GAT1):c.1090G>A (p.Glu364Lys) rs765579855 0.00001
NM_006876.3(B4GAT1):c.1136C>G (p.Ala379Gly) rs1012499887 0.00001
NM_006876.3(B4GAT1):c.1242C>T (p.Arg414=) rs754397014 0.00001
NM_006876.3(B4GAT1):c.128A>G (p.Asp43Gly) rs1249218517 0.00001
NM_006876.3(B4GAT1):c.144C>A (p.Phe48Leu) rs756392214 0.00001
NM_006876.3(B4GAT1):c.186G>A (p.Gln62=) rs1196515362 0.00001
NM_006876.3(B4GAT1):c.192C>G (p.Arg64=) rs1172561316 0.00001
NM_006876.3(B4GAT1):c.204C>T (p.Ala68=) rs1200054256 0.00001
NM_006876.3(B4GAT1):c.210A>T (p.Gly70=) rs1213999550 0.00001
NM_006876.3(B4GAT1):c.220G>A (p.Asp74Asn) rs746966446 0.00001
NM_006876.3(B4GAT1):c.223G>A (p.Ala75Thr) rs1465193578 0.00001
NM_006876.3(B4GAT1):c.226A>G (p.Ser76Gly) rs1085307691 0.00001
NM_006876.3(B4GAT1):c.278A>G (p.Asn93Ser) rs1332907515 0.00001
NM_006876.3(B4GAT1):c.289C>T (p.Leu97=) rs1412219970 0.00001
NM_006876.3(B4GAT1):c.363C>T (p.Ser121=) rs947725699 0.00001
NM_006876.3(B4GAT1):c.36C>T (p.Tyr12=) rs571265305 0.00001
NM_006876.3(B4GAT1):c.37C>T (p.Gln13Ter) rs767082700 0.00001
NM_006876.3(B4GAT1):c.468C>T (p.His156=) rs1163014613 0.00001
NM_006876.3(B4GAT1):c.478C>G (p.Pro160Ala) rs1188034363 0.00001
NM_006876.3(B4GAT1):c.511C>A (p.Arg171=) rs750370418 0.00001
NM_006876.3(B4GAT1):c.586G>T (p.Gly196Trp) rs560639654 0.00001
NM_006876.3(B4GAT1):c.601C>T (p.Leu201=) rs750284280 0.00001
NM_006876.3(B4GAT1):c.665A>G (p.Tyr222Cys) rs113570160 0.00001
NM_006876.3(B4GAT1):c.667G>A (p.Ala223Thr) rs1855225079 0.00001
NM_006876.3(B4GAT1):c.76C>A (p.Gln26Lys) rs762690431 0.00001
NM_006876.3(B4GAT1):c.772C>G (p.Pro258Ala) rs201440245 0.00001
NM_006876.3(B4GAT1):c.780C>T (p.Phe260=) rs1319732212 0.00001
NM_006876.3(B4GAT1):c.842T>G (p.Val281Gly) rs1449152242 0.00001
NM_006876.3(B4GAT1):c.861C>T (p.Phe287=) rs1296863347 0.00001
NM_006876.3(B4GAT1):c.897C>G (p.Thr299=) rs1356572423 0.00001
NM_006876.3(B4GAT1):c.952G>A (p.Val318Met) rs1008736415 0.00001
NM_006876.3(B4GAT1):c.984C>G (p.Phe328Leu) rs368961025 0.00001
NM_006876.3(B4GAT1):c.994G>A (p.Gly332Arg) rs775935595 0.00001
NM_013382.7(POMT2):c.*1285T>C rs886050815 0.00001
NM_013382.7(POMT2):c.*1579C>A rs780717261 0.00001
NM_013382.7(POMT2):c.*2381A>G rs993351501 0.00001
NM_013382.7(POMT2):c.*316C>G rs1460121683 0.00001
NM_013382.7(POMT2):c.*597C>T rs886050820 0.00001
NM_013382.7(POMT2):c.101C>T (p.Ala34Val) rs768585252 0.00001
NM_013382.7(POMT2):c.1033G>C (p.Val345Leu) rs779053591 0.00001
NM_013382.7(POMT2):c.1042C>G (p.Leu348Val) rs1158227625 0.00001
NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser) rs267606970 0.00001
NM_013382.7(POMT2):c.1061A>C (p.Tyr354Ser) rs751206357 0.00001
NM_013382.7(POMT2):c.1080C>T (p.His360=) rs776866129 0.00001
NM_013382.7(POMT2):c.1116+4A>G rs779844724 0.00001
NM_013382.7(POMT2):c.1183+6G>C rs1381239018 0.00001
NM_013382.7(POMT2):c.1184-14T>C rs199871120 0.00001
NM_013382.7(POMT2):c.1186C>T (p.Pro396Ser) rs764723711 0.00001
NM_013382.7(POMT2):c.1229A>T (p.Asp410Val) rs886043224 0.00001
NM_013382.7(POMT2):c.1237C>T (p.Arg413Ter) rs773017813 0.00001
NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro) rs190285831 0.00001
NM_013382.7(POMT2):c.1253+1G>A rs1475161693 0.00001
NM_013382.7(POMT2):c.1254-7C>T rs753987994 0.00001
NM_013382.7(POMT2):c.125C>T (p.Pro42Leu) rs912884835 0.00001
NM_013382.7(POMT2):c.1274G>C (p.Ser425Thr) rs774466835 0.00001
NM_013382.7(POMT2):c.1332+14G>A rs750144868 0.00001
NM_013382.7(POMT2):c.1332+4A>G rs1201960470 0.00001
NM_013382.7(POMT2):c.1407G>T (p.Val469=) rs886042679 0.00001
NM_013382.7(POMT2):c.1410G>A (p.Leu470=) rs1890394018 0.00001
NM_013382.7(POMT2):c.1417C>T (p.Arg473Ter) rs368817785 0.00001
NM_013382.7(POMT2):c.1418G>A (p.Arg473Gln) rs1279458453 0.00001
NM_013382.7(POMT2):c.1424G>A (p.Arg475His) rs200976246 0.00001
NM_013382.7(POMT2):c.1433A>G (p.His478Arg) rs765346043 0.00001
NM_013382.7(POMT2):c.1451T>C (p.Val484Ala) rs761917543 0.00001
NM_013382.7(POMT2):c.1484+14G>A rs1263576526 0.00001
NM_013382.7(POMT2):c.1484+9C>G rs760349322 0.00001
NM_013382.7(POMT2):c.1485-2_1485-1del rs1185491348 0.00001
NM_013382.7(POMT2):c.1497G>C (p.Gln499His) rs141248257 0.00001
NM_013382.7(POMT2):c.1512C>T (p.Cys504=) rs775728269 0.00001
NM_013382.7(POMT2):c.1518A>G (p.Pro506=) rs1380319239 0.00001
NM_013382.7(POMT2):c.1528G>A (p.Glu510Lys) rs186872560 0.00001
NM_013382.7(POMT2):c.1609A>G (p.Ser537Gly) rs1340953706 0.00001
NM_013382.7(POMT2):c.1659C>T (p.Asn553=) rs534663839 0.00001
NM_013382.7(POMT2):c.1667T>C (p.Leu556Pro) rs1890178559 0.00001
NM_013382.7(POMT2):c.1681A>G (p.Asn561Asp) rs1006561976 0.00001
NM_013382.7(POMT2):c.1726-15G>C rs1057524013 0.00001
NM_013382.7(POMT2):c.1762C>T (p.Arg588Ter) rs766169193 0.00001
NM_013382.7(POMT2):c.1769A>G (p.Tyr590Cys) rs1566644163 0.00001
NM_013382.7(POMT2):c.177C>T (p.Ala59=) rs761956817 0.00001
NM_013382.7(POMT2):c.1786-8C>T rs953851097 0.00001
NM_013382.7(POMT2):c.1790T>C (p.Val597Ala) rs1171196217 0.00001
NM_013382.7(POMT2):c.181C>T (p.Leu61=) rs774150334 0.00001
NM_013382.7(POMT2):c.1824C>T (p.Tyr608=) rs759220971 0.00001
NM_013382.7(POMT2):c.1870C>T (p.Arg624Trp) rs749335757 0.00001
NM_013382.7(POMT2):c.1873C>T (p.Leu625=) rs1393855564 0.00001
NM_013382.7(POMT2):c.1877C>T (p.Pro626Leu) rs1262591820 0.00001
NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter) rs119463989 0.00001
NM_013382.7(POMT2):c.1959G>A (p.Pro653=) rs775222771 0.00001
NM_013382.7(POMT2):c.1961T>G (p.Phe654Cys) rs769782374 0.00001
NM_013382.7(POMT2):c.196C>T (p.Leu66=) rs528060377 0.00001
NM_013382.7(POMT2):c.1975C>T (p.Arg659Trp) rs372939905 0.00001
NM_013382.7(POMT2):c.1976G>A (p.Arg659Gln) rs770606360 0.00001
NM_013382.7(POMT2):c.2011C>T (p.Leu671Phe) rs200079313 0.00001
NM_013382.7(POMT2):c.2032+19G>A rs1300533131 0.00001
NM_013382.7(POMT2):c.2033-20G>A rs1057524128 0.00001
NM_013382.7(POMT2):c.2046C>T (p.Asp682=) rs746369367 0.00001
NM_013382.7(POMT2):c.2087C>T (p.Pro696Leu) rs1449000965 0.00001
NM_013382.7(POMT2):c.209C>T (p.Ala70Val) rs1891834567 0.00001
NM_013382.7(POMT2):c.20G>A (p.Gly7Glu) rs763325075 0.00001
NM_013382.7(POMT2):c.2100C>A (p.Gly700=) rs905496812 0.00001
NM_013382.7(POMT2):c.2108T>C (p.Val703Ala) rs770189006 0.00001
NM_013382.7(POMT2):c.2111C>T (p.Ala704Val) rs746221148 0.00001
NM_013382.7(POMT2):c.2116A>G (p.Ile706Val) rs1352547589 0.00001
NM_013382.7(POMT2):c.2147+5G>C rs1360206873 0.00001
NM_013382.7(POMT2):c.2147+7A>C rs1472805344 0.00001
NM_013382.7(POMT2):c.2147+9C>T rs1253447533 0.00001
NM_013382.7(POMT2):c.216C>T (p.Arg72=) rs1891833559 0.00001
NM_013382.7(POMT2):c.2171C>T (p.Ala724Val) rs1413994990 0.00001
NM_013382.7(POMT2):c.2176G>A (p.Gly726Arg) rs1471500386 0.00001
NM_013382.7(POMT2):c.224G>A (p.Arg75His) rs1200964688 0.00001
NM_013382.7(POMT2):c.2250T>C (p.Phe750=) rs1890006083 0.00001
NM_013382.7(POMT2):c.227T>C (p.Leu76Ser) rs1349494437 0.00001
NM_013382.7(POMT2):c.240G>A (p.Pro80=) rs1346021636 0.00001
NM_013382.7(POMT2):c.244A>T (p.Ile82Phe) rs373944477 0.00001
NM_013382.7(POMT2):c.245T>A (p.Ile82Asn) rs563863191 0.00001
NM_013382.7(POMT2):c.248+1G>C rs961440747 0.00001
NM_013382.7(POMT2):c.248+2T>C rs1326631351 0.00001
NM_013382.7(POMT2):c.258G>A (p.Glu86=) rs956763108 0.00001
NM_013382.7(POMT2):c.25C>G (p.Leu9Val) rs1280735533 0.00001
NM_013382.7(POMT2):c.275T>C (p.Met92Thr) rs775489616 0.00001
NM_013382.7(POMT2):c.295C>T (p.Arg99Cys) rs199719668 0.00001
NM_013382.7(POMT2):c.311A>T (p.Asp104Val) rs1891449262 0.00001
NM_013382.7(POMT2):c.37G>A (p.Glu13Lys) rs747244194 0.00001
NM_013382.7(POMT2):c.439-9C>T rs777960032 0.00001
NM_013382.7(POMT2):c.47C>G (p.Pro16Arg) rs778898705 0.00001
NM_013382.7(POMT2):c.480C>T (p.Tyr160=) rs1202494830 0.00001
NM_013382.7(POMT2):c.485C>T (p.Thr162Ile) rs753521608 0.00001
NM_013382.7(POMT2):c.486T>C (p.Thr162=) rs766222032 0.00001
NM_013382.7(POMT2):c.50G>C (p.Arg17Pro) rs753326186 0.00001
NM_013382.7(POMT2):c.547+17A>G rs1485846490 0.00001
NM_013382.7(POMT2):c.548-12C>T rs773717014 0.00001
NM_013382.7(POMT2):c.593T>A (p.Ile198Asn) rs267606972 0.00001
NM_013382.7(POMT2):c.613G>A (p.Ala205Thr) rs886043765 0.00001
NM_013382.7(POMT2):c.629T>C (p.Met210Thr) rs369654108 0.00001
NM_013382.7(POMT2):c.636G>A (p.Lys212=) rs368906346 0.00001
NM_013382.7(POMT2):c.639C>A (p.Tyr213Ter) rs764878423 0.00001
NM_013382.7(POMT2):c.651C>T (p.Ala217=) rs147845081 0.00001
NM_013382.7(POMT2):c.660C>T (p.Pro220=) rs1377744438 0.00001
NM_013382.7(POMT2):c.661T>A (p.Phe221Ile) rs746803006 0.00001
NM_013382.7(POMT2):c.671C>G (p.Pro224Arg) rs771995900 0.00001
NM_013382.7(POMT2):c.685C>T (p.Leu229Phe) rs754512099 0.00001
NM_013382.7(POMT2):c.699C>T (p.Gly233=) rs375257656 0.00001
NM_013382.7(POMT2):c.69C>T (p.Pro23=) rs527728447 0.00001
NM_013382.7(POMT2):c.756A>G (p.Gln252=) rs766529891 0.00001
NM_013382.7(POMT2):c.762G>T (p.Gly254=) rs1457542706 0.00001
NM_013382.7(POMT2):c.774T>C (p.Ile258=) rs748022643 0.00001
NM_013382.7(POMT2):c.816+13G>A rs1283872799 0.00001
NM_013382.7(POMT2):c.825G>A (p.Val275=) rs779272258 0.00001
NM_013382.7(POMT2):c.845G>A (p.Arg282His) rs756132642 0.00001
NM_013382.7(POMT2):c.84C>T (p.Ala28=) rs771031903 0.00001
NM_013382.7(POMT2):c.890C>T (p.Thr297Ile) rs775548781 0.00001
NM_013382.7(POMT2):c.891C>A (p.Thr297=) rs769829396 0.00001
NM_013382.7(POMT2):c.924-5C>G rs570851802 0.00001
NM_013382.7(POMT2):c.924-6C>T rs764462802 0.00001
NM_013382.7(POMT2):c.958C>T (p.Gln320Ter) rs775932206 0.00001
NM_013382.7(POMT2):c.961G>A (p.Ala321Thr) rs770147545 0.00001
NM_013403.3(STRN4):c.282+55T>C rs2054592600 0.00001
NM_014254.3(RXYLT1):c.1018C>T (p.Arg340Ter) rs397514695 0.00001
NM_014254.3(RXYLT1):c.1064_1091del (p.Asp355fs) rs397514545 0.00001
NM_014254.3(RXYLT1):c.1332A>C (p.Ter444Tyr) rs922693472 0.00001
NM_014254.3(RXYLT1):c.325+1G>T rs1592838547 0.00001
NM_014254.3(RXYLT1):c.429-2A>G rs199605239 0.00001
NM_014254.3(RXYLT1):c.795del (p.Arg266fs) rs397514543 0.00001
NM_014254.3(RXYLT1):c.914+6T>G rs748809209 0.00001
NM_016532.4(INPP5K):c.418G>A (p.Gly140Ser) rs749383757 0.00001
NM_016532.4(INPP5K):c.67G>A (p.Val23Met) rs750781027 0.00001
NM_016532.4(INPP5K):c.805G>A (p.Asp269Asn) rs761612652 0.00001
NM_017739.4(POMGNT1):c.*30_*33del rs1553162554 0.00001
NM_017739.4(POMGNT1):c.*404_*405dup rs940315351 0.00001
NM_017739.4(POMGNT1):c.-64G>A rs927602645 0.00001
NM_017739.4(POMGNT1):c.1000A>G (p.Thr334Ala) rs1267806554 0.00001
NM_017739.4(POMGNT1):c.1005T>A (p.Val335=) rs749046557 0.00001
NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr) rs138745073 0.00001
NM_017739.4(POMGNT1):c.1027-7C>T rs1230573613 0.00001
NM_017739.4(POMGNT1):c.105G>A (p.Leu35=) rs1411611657 0.00001
NM_017739.4(POMGNT1):c.1074T>C (p.His358=) rs1274829970 0.00001
NM_017739.4(POMGNT1):c.107G>A (p.Arg36Gln) rs768700187 0.00001
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His) rs762972459 0.00001
NM_017739.4(POMGNT1):c.1102G>A (p.Val368Met) rs1332597566 0.00001
NM_017739.4(POMGNT1):c.110G>T (p.Arg37Ile) rs144746222 0.00001
NM_017739.4(POMGNT1):c.1110+1G>A rs1657940058 0.00001
NM_017739.4(POMGNT1):c.1110+20G>C rs370151630 0.00001
NM_017739.4(POMGNT1):c.1110+7C>T rs769481215 0.00001
NM_017739.4(POMGNT1):c.1110+9T>C rs1553163359 0.00001
NM_017739.4(POMGNT1):c.1111-12C>A rs369760788 0.00001
NM_017739.4(POMGNT1):c.1151C>T (p.Pro384Leu) rs375845761 0.00001
NM_017739.4(POMGNT1):c.1152+2T>C rs1553163335 0.00001
NM_017739.4(POMGNT1):c.1152G>A (p.Pro384=) rs760312462 0.00001
NM_017739.4(POMGNT1):c.1157C>T (p.Ala386Val) rs778179887 0.00001
NM_017739.4(POMGNT1):c.1167T>C (p.Ala389=) rs183698543 0.00001
NM_017739.4(POMGNT1):c.1192A>G (p.Ile398Val) rs1460430901 0.00001
NM_017739.4(POMGNT1):c.1198G>C (p.Val400Leu) rs749863346 0.00001
NM_017739.4(POMGNT1):c.120+10T>A rs1658352895 0.00001
NM_017739.4(POMGNT1):c.120+6G>C rs1344774466 0.00001
NM_017739.4(POMGNT1):c.121-10C>T rs748734868 0.00001
NM_017739.4(POMGNT1):c.1211+8G>C rs766253288 0.00001
NM_017739.4(POMGNT1):c.1212-4T>G rs778941358 0.00001
NM_017739.4(POMGNT1):c.1218G>A (p.Leu406=) rs1211823122 0.00001
NM_017739.4(POMGNT1):c.1236A>G (p.Leu412=) rs780965440 0.00001
NM_017739.4(POMGNT1):c.1248T>C (p.Asp416=) rs756939646 0.00001
NM_017739.4(POMGNT1):c.1269T>G (p.Ser423=) rs763604454 0.00001
NM_017739.4(POMGNT1):c.126G>A (p.Gly42=) rs374480891 0.00001
NM_017739.4(POMGNT1):c.1284+5G>T rs1257224073 0.00001
NM_017739.4(POMGNT1):c.1287G>C (p.Gly429=) rs1263918453 0.00001
NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His) rs150877512 0.00001
NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg) rs386834014 0.00001
NM_017739.4(POMGNT1):c.1365G>A (p.Arg455=) rs774554415 0.00001
NM_017739.4(POMGNT1):c.1377G>A (p.Lys459=) rs768983994 0.00001
NM_017739.4(POMGNT1):c.137T>C (p.Phe46Ser) rs1314508009 0.00001
NM_017739.4(POMGNT1):c.1380G>A (p.Glu460=) rs1167749728 0.00001
NM_017739.4(POMGNT1):c.1407G>A (p.Pro469=) rs375039269 0.00001
NM_017739.4(POMGNT1):c.1409A>G (p.Glu470Gly) rs781221088 0.00001
NM_017739.4(POMGNT1):c.1413+12G>T rs1339833158 0.00001
NM_017739.4(POMGNT1):c.1413+7G>A rs372521038 0.00001
NM_017739.4(POMGNT1):c.1414-16G>T rs773143031 0.00001
NM_017739.4(POMGNT1):c.1438C>T (p.Arg480Trp) rs1011150724 0.00001
NM_017739.4(POMGNT1):c.1439G>A (p.Arg480Gln) rs779428703 0.00001
NM_017739.4(POMGNT1):c.1458G>A (p.Arg486=) rs765493853 0.00001
NM_017739.4(POMGNT1):c.1470C>T (p.Cys490=) rs772100590 0.00001
NM_017739.4(POMGNT1):c.1482C>T (p.Asp494=) rs769213562 0.00001
NM_017739.4(POMGNT1):c.1489C>T (p.Arg497Ter) rs745343484 0.00001
NM_017739.4(POMGNT1):c.1490G>A (p.Arg497Gln) rs573518562 0.00001
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser) rs760705290 0.00001
NM_017739.4(POMGNT1):c.1521C>T (p.Asn507=) rs767617711 0.00001
NM_017739.4(POMGNT1):c.1539+9G>A rs775040861 0.00001
NM_017739.4(POMGNT1):c.1560C>T (p.His520=) rs1057521878 0.00001
NM_017739.4(POMGNT1):c.1561A>G (p.Lys521Glu) rs764394085 0.00001
NM_017739.4(POMGNT1):c.1572G>A (p.Thr524=) rs201897676 0.00001
NM_017739.4(POMGNT1):c.157G>A (p.Val53Ile) rs766383336 0.00001
NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=) rs200730202 0.00001
NM_017739.4(POMGNT1):c.1605-12C>A rs1255591571 0.00001
NM_017739.4(POMGNT1):c.1605-1G>C rs770219373 0.00001
NM_017739.4(POMGNT1):c.1605-9C>T rs368345562 0.00001
NM_017739.4(POMGNT1):c.160A>G (p.Asn54Asp) rs546654268 0.00001
NM_017739.4(POMGNT1):c.1632A>C (p.Glu544Asp) rs149482430 0.00001
NM_017739.4(POMGNT1):c.1647C>T (p.Leu549=) rs777907605 0.00001
NM_017739.4(POMGNT1):c.1650-10T>C rs753698616 0.00001
NM_017739.4(POMGNT1):c.1669C>A (p.His557Asn) rs761426941 0.00001
NM_017739.4(POMGNT1):c.168G>A (p.Lys56=) rs539988776 0.00001
NM_017739.4(POMGNT1):c.1707C>T (p.Asp569=) rs1206240703 0.00001
NM_017739.4(POMGNT1):c.1721C>T (p.Thr574Ile) rs556069604 0.00001
NM_017739.4(POMGNT1):c.1725C>T (p.Tyr575=) rs1657618143 0.00001
NM_017739.4(POMGNT1):c.172A>G (p.Ile58Val) rs886044042 0.00001
NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter) rs386834018 0.00001
NM_017739.4(POMGNT1):c.1773C>T (p.Thr591=) rs755936993 0.00001
NM_017739.4(POMGNT1):c.1780G>T (p.Ala594Ser) rs749960797 0.00001
NM_017739.4(POMGNT1):c.1786-17C>T rs1209878503 0.00001
NM_017739.4(POMGNT1):c.1786-9C>T rs961913683 0.00001
NM_017739.4(POMGNT1):c.1813C>T (p.Arg605Cys) rs886044567 0.00001
NM_017739.4(POMGNT1):c.181A>G (p.Thr61Ala) rs768245322 0.00001
NM_017739.4(POMGNT1):c.1847G>A (p.Arg616Gln) rs775534917 0.00001
NM_017739.4(POMGNT1):c.1865T>C (p.Leu622Pro) rs377170894 0.00001
NM_017739.4(POMGNT1):c.187C>T (p.Arg63Ter) rs193919337 0.00001
NM_017739.4(POMGNT1):c.1880C>T (p.Pro627Leu) rs200143169 0.00001
NM_017739.4(POMGNT1):c.1906C>T (p.Pro636Ser) rs771922809 0.00001
NM_017739.4(POMGNT1):c.1910C>T (p.Pro637Leu) rs1467007123 0.00001
NM_017739.4(POMGNT1):c.1911C>G (p.Pro637=) rs747815387 0.00001
NM_017739.4(POMGNT1):c.1923A>C (p.Pro641=) rs886043958 0.00001
NM_017739.4(POMGNT1):c.192C>T (p.Ala64=) rs373686838 0.00001
NM_017739.4(POMGNT1):c.1953G>A (p.Glu651=) rs1210887374 0.00001
NM_017739.4(POMGNT1):c.1975C>T (p.Gln659Ter) rs766290773 0.00001
NM_017739.4(POMGNT1):c.213C>T (p.Asp71=) rs909246508 0.00001
NM_017739.4(POMGNT1):c.236-1G>T rs1057516477 0.00001
NM_017739.4(POMGNT1):c.250C>T (p.Arg84Cys) rs1238403887 0.00001
NM_017739.4(POMGNT1):c.255G>A (p.Leu85=) rs754111936 0.00001
NM_017739.4(POMGNT1):c.264A>G (p.Pro88=) rs1557677974 0.00001
NM_017739.4(POMGNT1):c.304G>A (p.Glu102Lys) rs749603354 0.00001
NM_017739.4(POMGNT1):c.313T>C (p.Ser105Pro) rs780158040 0.00001
NM_017739.4(POMGNT1):c.325A>G (p.Lys109Glu) rs1459243404 0.00001
NM_017739.4(POMGNT1):c.330A>G (p.Val110=) rs1658269711 0.00001
NM_017739.4(POMGNT1):c.355-6G>C rs754657039 0.00001
NM_017739.4(POMGNT1):c.358C>G (p.Leu120Val) rs373016708 0.00001
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp) rs375431575 0.00001
NM_017739.4(POMGNT1):c.386G>A (p.Arg129Gln) rs770188918 0.00001
NM_017739.4(POMGNT1):c.399C>T (p.Val133=) rs776851436 0.00001
NM_017739.4(POMGNT1):c.405C>T (p.Val135=) rs777809507 0.00001
NM_017739.4(POMGNT1):c.418A>G (p.Thr140Ala) rs886042796 0.00001
NM_017739.4(POMGNT1):c.420+11A>C rs564933024 0.00001
NM_017739.4(POMGNT1):c.420+12G>C rs907290682 0.00001
NM_017739.4(POMGNT1):c.421-20A>G rs1010666552 0.00001
NM_017739.4(POMGNT1):c.421-8C>T rs778935754 0.00001
NM_017739.4(POMGNT1):c.439C>T (p.Arg147Cys) rs780641373 0.00001
NM_017739.4(POMGNT1):c.442G>T (p.Val148Leu) rs770366321 0.00001
NM_017739.4(POMGNT1):c.452C>T (p.Thr151Met) rs886044363 0.00001
NM_017739.4(POMGNT1):c.458C>G (p.Ser153Ter) rs1048865247 0.00001
NM_017739.4(POMGNT1):c.478A>G (p.Met160Val) rs1355389149 0.00001
NM_017739.4(POMGNT1):c.503C>T (p.Ala168Val) rs200643988 0.00001
NM_017739.4(POMGNT1):c.504G>A (p.Ala168=) rs761978964 0.00001
NM_017739.4(POMGNT1):c.534+13G>C rs373313076 0.00001
NM_017739.4(POMGNT1):c.534+16C>T rs780919869 0.00001
NM_017739.4(POMGNT1):c.535-14C>G rs778926136 0.00001
NM_017739.4(POMGNT1):c.553C>G (p.Leu185Val) rs757919524 0.00001
NM_017739.4(POMGNT1):c.562A>G (p.Thr188Ala) rs868433749 0.00001
NM_017739.4(POMGNT1):c.579G>A (p.Leu193=) rs747612249 0.00001
NM_017739.4(POMGNT1):c.588G>A (p.Leu196=) rs750844260 0.00001
NM_017739.4(POMGNT1):c.633C>T (p.Ala211=) rs765314886 0.00001
NM_017739.4(POMGNT1):c.637G>A (p.Val213Met) rs1239939744 0.00001
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter) rs386834034 0.00001
NM_017739.4(POMGNT1):c.652+1G>T rs386834035 0.00001
NM_017739.4(POMGNT1):c.652+5C>T rs771669680 0.00001
NM_017739.4(POMGNT1):c.653-10C>T rs1658075924 0.00001
NM_017739.4(POMGNT1):c.653-12G>C rs1258635883 0.00001
NM_017739.4(POMGNT1):c.677C>T (p.Ser226Phe) rs147938876 0.00001
NM_017739.4(POMGNT1):c.691C>G (p.Leu231Val) rs771429702 0.00001
NM_017739.4(POMGNT1):c.712G>C (p.Val238Leu) rs755032396 0.00001
NM_017739.4(POMGNT1):c.735A>G (p.Pro245=) rs139266745 0.00001
NM_017739.4(POMGNT1):c.751+1G>A rs1247668825 0.00001
NM_017739.4(POMGNT1):c.751+4G>C rs768307488 0.00001
NM_017739.4(POMGNT1):c.752-10C>T rs1470088795 0.00001
NM_017739.4(POMGNT1):c.752-16C>T rs376149012 0.00001
NM_017739.4(POMGNT1):c.758A>T (p.Glu253Val) rs886043972 0.00001
NM_017739.4(POMGNT1):c.790C>T (p.Arg264Cys) rs369306680 0.00001
NM_017739.4(POMGNT1):c.791G>A (p.Arg264His) rs748559972 0.00001
NM_017739.4(POMGNT1):c.793C>T (p.Arg265Cys) rs774752168 0.00001
NM_017739.4(POMGNT1):c.799C>T (p.Arg267Cys) rs148131756 0.00001
NM_017739.4(POMGNT1):c.807C>T (p.Cys269=) rs1285062976 0.00001
NM_017739.4(POMGNT1):c.813A>C (p.Lys271Asn) rs757156888 0.00001
NM_017739.4(POMGNT1):c.824A>G (p.Tyr275Cys) rs200789546 0.00001
NM_017739.4(POMGNT1):c.825T>C (p.Tyr275=) rs1398706831 0.00001
NM_017739.4(POMGNT1):c.834A>G (p.Val278=) rs1299228802 0.00001
NM_017739.4(POMGNT1):c.861C>T (p.Ile287=) rs764747122 0.00001
NM_017739.4(POMGNT1):c.862G>A (p.Glu288Lys) rs1476814352 0.00001
NM_017739.4(POMGNT1):c.879+18A>G rs1658029444 0.00001
NM_017739.4(POMGNT1):c.87G>A (p.Leu29=) rs794727291 0.00001
NM_017739.4(POMGNT1):c.880-4A>C rs1553163534 0.00001
NM_017739.4(POMGNT1):c.880-5C>T rs746970517 0.00001
NM_017739.4(POMGNT1):c.889A>G (p.Asn297Asp) rs752393375 0.00001
NM_017739.4(POMGNT1):c.902A>G (p.Asn301Ser) rs754653320 0.00001
NM_017739.4(POMGNT1):c.908C>T (p.Pro303Leu) rs753453050 0.00001
NM_017739.4(POMGNT1):c.921T>G (p.Ile307Met) rs71653997 0.00001
NM_017739.4(POMGNT1):c.924A>G (p.Ala308=) rs202058059 0.00001
NM_017739.4(POMGNT1):c.926G>A (p.Gly309Glu) rs752124301 0.00001
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter) rs386834039 0.00001
NM_017739.4(POMGNT1):c.951-9G>C rs765581970 0.00001
NM_017739.4(POMGNT1):c.959G>A (p.Arg320His) rs368653589 0.00001
NM_017739.4(POMGNT1):c.959G>T (p.Arg320Leu) rs368653589 0.00001
NM_017739.4(POMGNT1):c.979G>A (p.Gly327Arg) rs1306444778 0.00001
NM_017739.4(POMGNT1):c.988C>T (p.Pro330Ser) rs748027760 0.00001
NM_020451.3(SELENON):c.1023G>A (p.Val341=) rs755437940 0.00001
NM_020451.3(SELENON):c.1055G>A (p.Ser352Asn) rs749342493 0.00001
NM_020451.3(SELENON):c.1082A>G (p.Tyr361Cys) rs749968347 0.00001
NM_020451.3(SELENON):c.1092+7G>A rs367908571 0.00001
NM_020451.3(SELENON):c.1096G>T (p.Glu366Ter) rs794727976 0.00001
NM_020451.3(SELENON):c.1162A>G (p.Ser388Gly) rs562843129 0.00001
NM_020451.3(SELENON):c.1209dup (p.Lys404fs) rs745715484 0.00001
NM_020451.3(SELENON):c.1243G>A (p.Ala415Thr) rs953899916 0.00001
NM_020451.3(SELENON):c.1246C>T (p.Arg416Trp) rs369207232 0.00001
NM_020451.3(SELENON):c.1281+15G>T rs886038657 0.00001
NM_020451.3(SELENON):c.1281+15_1281+25dup rs1402844279 0.00001
NM_020451.3(SELENON):c.1311C>T (p.Phe437=) rs752908428 0.00001
NM_020451.3(SELENON):c.1337T>C (p.Leu446Pro) rs1257737257 0.00001
NM_020451.3(SELENON):c.1348A>G (p.Ile450Val) rs1472493197 0.00001
NM_020451.3(SELENON):c.1358G>C (p.Trp453Ser) rs121908186 0.00001
NM_020451.3(SELENON):c.1375C>T (p.Gln459Ter) rs760063405 0.00001
NM_020451.3(SELENON):c.1378T>C (p.Ser460Pro) rs1227306514 0.00001
NM_020451.3(SELENON):c.1387+6G>A rs1318995344 0.00001
NM_020451.3(SELENON):c.1388-7dup rs760765615 0.00001
NM_020451.3(SELENON):c.1388-8C>G rs1366973759 0.00001
NM_020451.3(SELENON):c.1396C>T (p.Arg466Trp) rs752156505 0.00001
NM_020451.3(SELENON):c.1405C>T (p.Arg469Trp) rs756927098 0.00001
NM_020451.3(SELENON):c.1421A>G (p.Glu474Gly) rs772460886 0.00001
NM_020451.3(SELENON):c.1469G>A (p.Trp490Ter) rs960468382 0.00001
NM_020451.3(SELENON):c.1495C>G (p.Leu499Val) rs760671117 0.00001
NM_020451.3(SELENON):c.1498C>G (p.Gln500Glu) rs763724398 0.00001
NM_020451.3(SELENON):c.1500+6C>T rs1245353353 0.00001
NM_020451.3(SELENON):c.1501-1G>A rs750138587 0.00001
NM_020451.3(SELENON):c.1518G>A (p.Ser506=) rs751872810 0.00001
NM_020451.3(SELENON):c.1566C>T (p.Pro522=) rs768563944 0.00001
NM_020451.3(SELENON):c.1607A>G (p.His536Arg) rs758653293 0.00001
NM_020451.3(SELENON):c.1620C>T (p.Ala540=) rs1421548273 0.00001
NM_020451.3(SELENON):c.1663G>A (p.Glu555Lys) rs1187861214 0.00001
NM_020451.3(SELENON):c.1735G>A (p.Glu579Lys) rs765368764 0.00001
NM_020451.3(SELENON):c.1748G>A (p.Arg583His) rs771563318 0.00001
NM_020451.3(SELENON):c.1765C>T (p.Gln589Ter) rs374398346 0.00001
NM_020451.3(SELENON):c.176C>A (p.Ala59Glu) rs970390100 0.00001
NM_020451.3(SELENON):c.205G>C (p.Gly69Arg) rs779935621 0.00001
NM_020451.3(SELENON):c.206G>A (p.Gly69Glu) rs746738124 0.00001
NM_020451.3(SELENON):c.216C>T (p.Gly72=) rs747665368 0.00001
NM_020451.3(SELENON):c.28G>C (p.Gly10Arg) rs1174797000 0.00001
NM_020451.3(SELENON):c.300del (p.Ser102fs) rs1269951927 0.00001
NM_020451.3(SELENON):c.372G>A (p.Trp124Ter) rs934913626 0.00001
NM_020451.3(SELENON):c.404-18G>A rs376478982 0.00001
NM_020451.3(SELENON):c.414C>T (p.Pro138=) rs374681184 0.00001
NM_020451.3(SELENON):c.446_447del (p.Pro149fs) rs1192828749 0.00001
NM_020451.3(SELENON):c.468C>T (p.Leu156=) rs368675892 0.00001
NM_020451.3(SELENON):c.481C>T (p.Arg161Ter) rs778603129 0.00001
NM_020451.3(SELENON):c.482G>A (p.Arg161Gln) rs765749301 0.00001
NM_020451.3(SELENON):c.521A>C (p.Lys174Thr) rs770305372 0.00001
NM_020451.3(SELENON):c.537+16C>T rs774621017 0.00001
NM_020451.3(SELENON):c.538-10C>T rs1471184508 0.00001
NM_020451.3(SELENON):c.538-4C>G rs201712329 0.00001
NM_020451.3(SELENON):c.558C>T (p.Ser186=) rs374013102 0.00001
NM_020451.3(SELENON):c.565C>T (p.Arg189Ter) rs775713184 0.00001
NM_020451.3(SELENON):c.579C>T (p.Ala193=) rs760971636 0.00001
NM_020451.3(SELENON):c.581C>T (p.Ala194Val) rs727504148 0.00001
NM_020451.3(SELENON):c.582C>T (p.Ala194=) rs1420010957 0.00001
NM_020451.3(SELENON):c.608C>T (p.Thr203Ile) rs755740382 0.00001
NM_020451.3(SELENON):c.610C>T (p.Arg204Cys) rs754161311 0.00001
NM_020451.3(SELENON):c.611G>A (p.Arg204His) rs757780272 0.00001
NM_020451.3(SELENON):c.657G>A (p.Glu219=) rs760351206 0.00001
NM_020451.3(SELENON):c.675C>T (p.Pro225=) rs757547235 0.00001
NM_020451.3(SELENON):c.684G>C (p.Leu228=) rs750994601 0.00001
NM_020451.3(SELENON):c.693C>T (p.Phe231=) rs903926749 0.00001
NM_020451.3(SELENON):c.715C>T (p.Arg239Cys) rs749100423 0.00001
NM_020451.3(SELENON):c.730C>T (p.Pro244Ser) rs775003175 0.00001
NM_020451.3(SELENON):c.748-6C>T rs1300732555 0.00001
NM_020451.3(SELENON):c.748-9C>T rs752180175 0.00001
NM_020451.3(SELENON):c.761G>A (p.Arg254Gln) rs779808108 0.00001
NM_020451.3(SELENON):c.781C>T (p.Pro261Ser) rs1270929673 0.00001
NM_020451.3(SELENON):c.784C>T (p.Arg262Trp) rs746994841 0.00001
NM_020451.3(SELENON):c.793G>A (p.Val265Met) rs1364075867 0.00001
NM_020451.3(SELENON):c.847G>A (p.Asp283Asn) rs760149813 0.00001
NM_020451.3(SELENON):c.858C>T (p.Tyr286=) rs760604264 0.00001
NM_020451.3(SELENON):c.871C>T (p.Arg291Trp) rs757446463 0.00001
NM_020451.3(SELENON):c.872+7G>A rs751318243 0.00001
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln) rs199564797 0.00001
NM_020451.3(SELENON):c.878A>G (p.His293Arg) rs776738184 0.00001
NM_020451.3(SELENON):c.882C>T (p.Ala294=) rs201631363 0.00001
NM_020451.3(SELENON):c.903G>A (p.Pro301=) rs752634748 0.00001
NM_020451.3(SELENON):c.935A>G (p.Gln312Arg) rs775897489 0.00001
NM_020451.3(SELENON):c.976G>A (p.Val326Ile) rs764032922 0.00001
NM_020451.3(SELENON):c.979C>T (p.Arg327Cys) rs753400008 0.00001
NM_020451.3(SELENON):c.982G>A (p.Asp328Asn) rs771240009 0.00001
NM_021971.4(GMPPB):c.1014C>T (p.Leu338=) rs756344903 0.00001
NM_021971.4(GMPPB):c.1027G>C (p.Val343Leu) rs1409825474 0.00001
NM_021971.4(GMPPB):c.1050C>A (p.Gly350=) rs746616705 0.00001
NM_021971.4(GMPPB):c.1070G>A (p.Arg357His) rs771861177 0.00001
NM_021971.4(GMPPB):c.118G>C (p.Ala40Pro) rs1445731992 0.00001
NM_021971.4(GMPPB):c.130-13T>C rs756852893 0.00001
NM_021971.4(GMPPB):c.130-6T>G rs369862012 0.00001
NM_021971.4(GMPPB):c.210+9C>T rs775118468 0.00001
NM_021971.4(GMPPB):c.210G>A (p.Arg70=) rs201795833 0.00001
NM_021971.4(GMPPB):c.211-20G>C rs1341824987 0.00001
NM_021971.4(GMPPB):c.215G>C (p.Gly72Ala) rs1245162935 0.00001
NM_021971.4(GMPPB):c.240A>G (p.Glu80=) rs1292996433 0.00001
NM_021971.4(GMPPB):c.294dup (p.Glu99Ter) rs1365085828 0.00001
NM_021971.4(GMPPB):c.300T>C (p.Thr100=) rs1269383125 0.00001
NM_021971.4(GMPPB):c.356C>A (p.Ala119Asp) rs1272084445 0.00001
NM_021971.4(GMPPB):c.395C>G (p.Ser132Cys) rs145535498 0.00001
NM_021971.4(GMPPB):c.402+1G>A rs145564018 0.00001
NM_021971.4(GMPPB):c.402+8G>A rs374491667 0.00001
NM_021971.4(GMPPB):c.477C>T (p.Phe159=) rs756215708 0.00001
NM_021971.4(GMPPB):c.478G>A (p.Val160Met) rs752805529 0.00001
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys) rs397509425 0.00001
NM_021971.4(GMPPB):c.572C>T (p.Thr191Met) rs146287156 0.00001
NM_021971.4(GMPPB):c.578T>C (p.Ile193Thr) rs780301264 0.00001
NM_021971.4(GMPPB):c.596C>G (p.Pro199Arg) rs765573379 0.00001
NM_021971.4(GMPPB):c.629T>C (p.Met210Thr) rs759137392 0.00001
NM_021971.4(GMPPB):c.640+10G>C rs769641702 0.00001
NM_021971.4(GMPPB):c.640+19A>G rs1472999197 0.00001
NM_021971.4(GMPPB):c.672C>T (p.Asp224=) rs1247769949 0.00001
NM_021971.4(GMPPB):c.6G>A (p.Lys2=) rs1297069725 0.00001
NM_021971.4(GMPPB):c.70C>T (p.Pro24Ser) rs1310563727 0.00001
NM_021971.4(GMPPB):c.728G>A (p.Arg243Gln) rs749730219 0.00001
NM_021971.4(GMPPB):c.781C>T (p.Arg261Cys) rs746357591 0.00001
NM_021971.4(GMPPB):c.801C>T (p.Ser267=) rs752457623 0.00001
NM_021971.4(GMPPB):c.831C>T (p.Gly277=) rs763262592 0.00001
NM_021971.4(GMPPB):c.870G>A (p.Thr290=) rs778490288 0.00001
NM_021971.4(GMPPB):c.877C>T (p.Arg293Trp) rs756682220 0.00001
NM_021971.4(GMPPB):c.910G>A (p.Glu304Lys) rs762995747 0.00001
NM_021971.4(GMPPB):c.918C>T (p.Cys306=) rs1186936513 0.00001
NM_021971.4(GMPPB):c.91A>G (p.Lys31Glu) rs764625823 0.00001
NM_021971.4(GMPPB):c.938G>A (p.Arg313His) rs775910135 0.00001
NM_021971.4(GMPPB):c.951+7C>A rs973900671 0.00001
NM_021971.4(GMPPB):c.954A>G (p.Val318=) rs747818187 0.00001
NM_021971.4(GMPPB):c.955C>T (p.Arg319Cys) rs780867515 0.00001
NM_021971.4(GMPPB):c.95C>T (p.Pro32Leu) rs397509426 0.00001
NM_021971.4(GMPPB):c.981T>C (p.Gly327=) rs779167148 0.00001
NM_021971.4(GMPPB):c.982G>A (p.Glu328Lys) rs1356812347 0.00001
NM_021971.4(GMPPB):c.987C>T (p.Asp329=) rs541447888 0.00001
NM_024301.5(FKRP):c.1012G>C (p.Val338Leu) rs1173430388 0.00001
NM_024301.5(FKRP):c.1019A>T (p.Tyr340Phe) rs1322997651 0.00001
NM_024301.5(FKRP):c.1032C>T (p.Gly344=) rs767312918 0.00001
NM_024301.5(FKRP):c.1038A>G (p.Ser346=) rs757201268 0.00001
NM_024301.5(FKRP):c.1050C>T (p.Ala350=) rs1435046628 0.00001
NM_024301.5(FKRP):c.1054C>T (p.Arg352Cys) rs751676482 0.00001
NM_024301.5(FKRP):c.1057C>T (p.His353Tyr) rs1468465064 0.00001
NM_024301.5(FKRP):c.1060G>A (p.Gly354Arg) rs565499116 0.00001
NM_024301.5(FKRP):c.1061G>A (p.Gly354Glu) rs781414509 0.00001
NM_024301.5(FKRP):c.106G>T (p.Ala36Ser) rs1412050261 0.00001
NM_024301.5(FKRP):c.1082A>C (p.Tyr361Ser) rs906664695 0.00001
NM_024301.5(FKRP):c.108C>T (p.Ala36=) rs757482530 0.00001
NM_024301.5(FKRP):c.1117G>A (p.Gly373Ser) rs1184684815 0.00001
NM_024301.5(FKRP):c.1134G>A (p.Leu378=) rs1303195847 0.00001
NM_024301.5(FKRP):c.1137G>T (p.Arg379=) rs761782258 0.00001
NM_024301.5(FKRP):c.1139G>A (p.Gly380Glu) rs751586523 0.00001
NM_024301.5(FKRP):c.1158G>C (p.Val386=) rs373719817 0.00001
NM_024301.5(FKRP):c.1160T>C (p.Val387Ala) rs779577195 0.00001
NM_024301.5(FKRP):c.1167G>A (p.Glu389=) rs771708277 0.00001
NM_024301.5(FKRP):c.1171G>C (p.Gly391Arg) rs775201067 0.00001
NM_024301.5(FKRP):c.1174T>A (p.Phe392Ile) rs1269819838 0.00001
NM_024301.5(FKRP):c.1176C>T (p.Phe392=) rs768236258 0.00001
NM_024301.5(FKRP):c.1190C>T (p.Ala397Val) rs767570224 0.00001
NM_024301.5(FKRP):c.1192G>A (p.Val398Ile) rs1471167981 0.00001
NM_024301.5(FKRP):c.1197G>A (p.Glu399=) rs2054933742 0.00001
NM_024301.5(FKRP):c.119G>A (p.Arg40His) rs2054891509 0.00001
NM_024301.5(FKRP):c.125C>G (p.Ala42Gly) rs768215450 0.00001
NM_024301.5(FKRP):c.1261T>C (p.Tyr421His) rs1425956543 0.00001
NM_024301.5(FKRP):c.1263C>T (p.Tyr421=) rs138350337 0.00001
NM_024301.5(FKRP):c.1269_1270insT (p.Asn424Ter) rs772950604 0.00001
NM_024301.5(FKRP):c.1271A>G (p.Asn424Ser) rs376989573 0.00001
NM_024301.5(FKRP):c.1316T>A (p.Val439Glu) rs754002921 0.00001
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu) rs104894681 0.00001
NM_024301.5(FKRP):c.1344G>T (p.Pro448=) rs754446767 0.00001
NM_024301.5(FKRP):c.1352C>T (p.Pro451Leu) rs886044542 0.00001
NM_024301.5(FKRP):c.1362T>C (p.Phe454=) rs2054938348 0.00001
NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser) rs747785577 0.00001
NM_024301.5(FKRP):c.1383G>T (p.Ala461=) rs759585825 0.00001
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser) rs768606230 0.00001
NM_024301.5(FKRP):c.1397G>A (p.Arg466His) rs763422045 0.00001
NM_024301.5(FKRP):c.1418T>G (p.Phe473Cys) rs752243337 0.00001
NM_024301.5(FKRP):c.1426G>A (p.Gly476Arg) rs930285524 0.00001
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr) rs1301397800 0.00001
NM_024301.5(FKRP):c.1436A>G (p.Glu479Gly) rs1555739297 0.00001
NM_024301.5(FKRP):c.1449C>T (p.Tyr483=) rs772089991 0.00001
NM_024301.5(FKRP):c.1458G>A (p.Pro486=) rs762008480 0.00001
NM_024301.5(FKRP):c.1465C>T (p.Leu489=) rs112819526 0.00001
NM_024301.5(FKRP):c.1477G>A (p.Gly493Arg) rs763299165 0.00001
NM_024301.5(FKRP):c.1482C>A (p.Ser494Arg) rs373244438 0.00001
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg) rs104894682 0.00001
NM_024301.5(FKRP):c.151G>A (p.Val51Ile) rs769377092 0.00001
NM_024301.5(FKRP):c.172G>A (p.Ala58Thr) rs751506122 0.00001
NM_024301.5(FKRP):c.178G>T (p.Asp60Tyr) rs1311501368 0.00001
NM_024301.5(FKRP):c.186G>A (p.Ala62=) rs764225864 0.00001
NM_024301.5(FKRP):c.186G>T (p.Ala62=) rs764225864 0.00001
NM_024301.5(FKRP):c.18C>T (p.Cys6=) rs373388363 0.00001
NM_024301.5(FKRP):c.203A>C (p.Asp68Ala) rs779035324 0.00001
NM_024301.5(FKRP):c.205T>C (p.Ser69Pro) rs990847012 0.00001
NM_024301.5(FKRP):c.22G>A (p.Ala8Thr) rs1178928336 0.00001
NM_024301.5(FKRP):c.236T>C (p.Val79Ala) rs2054894918 0.00001
NM_024301.5(FKRP):c.240G>C (p.Val80=) rs769443891 0.00001
NM_024301.5(FKRP):c.273G>A (p.Leu91=) rs2054896422 0.00001
NM_024301.5(FKRP):c.274G>T (p.Ala92Ser) rs1232466626 0.00001
NM_024301.5(FKRP):c.283C>T (p.Arg95Cys) rs767399675 0.00001
NM_024301.5(FKRP):c.298C>T (p.Arg100Cys) rs1244445645 0.00001
NM_024301.5(FKRP):c.299G>A (p.Arg100His) rs1174581828 0.00001
NM_024301.5(FKRP):c.312C>T (p.Leu104=) rs1159432554 0.00001
NM_024301.5(FKRP):c.313C>T (p.Gln105Ter) rs761821795 0.00001
NM_024301.5(FKRP):c.315G>T (p.Gln105His) rs765444642 0.00001
NM_024301.5(FKRP):c.316C>T (p.Pro106Ser) rs1164727838 0.00001
NM_024301.5(FKRP):c.32C>T (p.Ala11Val) rs760295001 0.00001
NM_024301.5(FKRP):c.347G>T (p.Arg116Leu) rs1235772349 0.00001
NM_024301.5(FKRP):c.348C>G (p.Arg116=) rs995869558 0.00001
NM_024301.5(FKRP):c.379G>A (p.Ala127Thr) rs1060502106 0.00001
NM_024301.5(FKRP):c.404C>A (p.Ala135Asp) rs398124392 0.00001
NM_024301.5(FKRP):c.442C>A (p.Leu148Ile) rs1599935206 0.00001
NM_024301.5(FKRP):c.466G>A (p.Val156Met) rs765402738 0.00001
NM_024301.5(FKRP):c.474C>G (p.Ala158=) rs963599756 0.00001
NM_024301.5(FKRP):c.486G>A (p.Thr162=) rs773481816 0.00001
NM_024301.5(FKRP):c.48C>T (p.Leu16=) rs776358648 0.00001
NM_024301.5(FKRP):c.493C>T (p.Pro165Ser) rs959475250 0.00001
NM_024301.5(FKRP):c.4C>T (p.Arg2Trp) rs748272589 0.00001
NM_024301.5(FKRP):c.517G>A (p.Val173Ile) rs1322879846 0.00001
NM_024301.5(FKRP):c.52C>T (p.Leu18Phe) rs1226848053 0.00001
NM_024301.5(FKRP):c.537C>G (p.Thr179=) rs756705086 0.00001
NM_024301.5(FKRP):c.540C>T (p.Ala180=) rs1269695339 0.00001
NM_024301.5(FKRP):c.544T>C (p.Tyr182His) rs753390261 0.00001
NM_024301.5(FKRP):c.551C>T (p.Ala184Val) rs1489408026 0.00001
NM_024301.5(FKRP):c.557C>T (p.Pro186Leu) rs745619101 0.00001
NM_024301.5(FKRP):c.576C>T (p.Asp192=) rs1366277135 0.00001
NM_024301.5(FKRP):c.582G>A (p.Leu194=) rs771223960 0.00001
NM_024301.5(FKRP):c.583G>T (p.Asp195Tyr) rs1289689195 0.00001
NM_024301.5(FKRP):c.59T>C (p.Val20Ala) rs750241299 0.00001
NM_024301.5(FKRP):c.603C>T (p.Leu201=) rs1340816162 0.00001
NM_024301.5(FKRP):c.610G>A (p.Ala204Thr) rs764621521 0.00001
NM_024301.5(FKRP):c.621C>T (p.Leu207=) rs1057522134 0.00001
NM_024301.5(FKRP):c.635C>T (p.Ala212Val) rs758125491 0.00001
NM_024301.5(FKRP):c.66C>T (p.Phe22=) rs995818740 0.00001
NM_024301.5(FKRP):c.677C>A (p.Thr226Asn) rs772380755 0.00001
NM_024301.5(FKRP):c.678C>G (p.Thr226=) rs1060504471 0.00001
NM_024301.5(FKRP):c.682C>T (p.Leu228Phe) rs886044590 0.00001
NM_024301.5(FKRP):c.699G>A (p.Val233=) rs764527541 0.00001
NM_024301.5(FKRP):c.69T>C (p.Tyr23=) rs954656663 0.00001
NM_024301.5(FKRP):c.703C>T (p.Leu235=) rs1428469954 0.00001
NM_024301.5(FKRP):c.706C>G (p.Leu236Val) rs754347622 0.00001
NM_024301.5(FKRP):c.738C>T (p.Pro246=) rs2054915819 0.00001
NM_024301.5(FKRP):c.741G>A (p.Pro247=) rs1488332243 0.00001
NM_024301.5(FKRP):c.744G>A (p.Leu248=) rs1200403758 0.00001
NM_024301.5(FKRP):c.753C>A (p.Ala251=) rs1317582201 0.00001
NM_024301.5(FKRP):c.761G>A (p.Arg254His) rs1395997291 0.00001
NM_024301.5(FKRP):c.77G>T (p.Trp26Leu) rs752731569 0.00001
NM_024301.5(FKRP):c.780G>A (p.Glu260=) rs1414659732 0.00001
NM_024301.5(FKRP):c.794G>T (p.Arg265Leu) rs1320991574 0.00001
NM_024301.5(FKRP):c.798G>A (p.Ala266=) rs1012811921 0.00001
NM_024301.5(FKRP):c.801G>A (p.Ala267=) rs1172407770 0.00001
NM_024301.5(FKRP):c.803T>G (p.Leu268Arg) rs886042921 0.00001
NM_024301.5(FKRP):c.809G>A (p.Arg270His) rs1025118379 0.00001
NM_024301.5(FKRP):c.825C>T (p.Arg275=) rs1457625449 0.00001
NM_024301.5(FKRP):c.82C>G (p.Gln28Glu) rs1060502110 0.00001
NM_024301.5(FKRP):c.845G>C (p.Gly282Ala) rs775795075 0.00001
NM_024301.5(FKRP):c.851T>C (p.Leu284Pro) rs1435780847 0.00001
NM_024301.5(FKRP):c.854A>C (p.Glu285Ala) rs963039919 0.00001
NM_024301.5(FKRP):c.861C>T (p.Phe287=) rs1337312819 0.00001
NM_024301.5(FKRP):c.870C>T (p.Asn290=) rs1349056465 0.00001
NM_024301.5(FKRP):c.897C>T (p.Thr299=) rs1363012131 0.00001
NM_024301.5(FKRP):c.915C>G (p.Pro305=) rs1372543621 0.00001
NM_024301.5(FKRP):c.918C>T (p.Ala306=) rs1410653063 0.00001
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn) rs104894692 0.00001
NM_024301.5(FKRP):c.920A>G (p.Tyr307Cys) rs762546512 0.00001
NM_024301.5(FKRP):c.926A>G (p.Tyr309Cys) rs104894679 0.00001
NM_024301.5(FKRP):c.927C>T (p.Tyr309=) rs1356212665 0.00001
NM_024301.5(FKRP):c.946C>T (p.Pro316Ser) rs28937901 0.00001
NM_024301.5(FKRP):c.947C>G (p.Pro316Arg) rs752582904 0.00001
NM_024301.5(FKRP):c.959G>A (p.Arg320His) rs1465811690 0.00001
NM_024301.5(FKRP):c.962C>A (p.Ala321Glu) rs745882222 0.00001
NM_024301.5(FKRP):c.968G>A (p.Arg323His) rs1349031936 0.00001
NM_024301.5(FKRP):c.970G>C (p.Glu324Gln) rs886044183 0.00001
NM_024301.5(FKRP):c.976G>A (p.Ala326Thr) rs1201873802 0.00001
NM_024301.5(FKRP):c.980G>A (p.Arg327His) rs747219711 0.00001
NM_024301.5(FKRP):c.982_984del (p.Tyr328del) rs886043458 0.00001
NM_024301.5(FKRP):c.984T>C (p.Tyr328=) rs1181528755 0.00001
NM_024301.5(FKRP):c.9C>T (p.Leu3=) rs756295058 0.00001
NM_032237.5(POMK):c.1023C>T (p.Ala341=) rs777058315 0.00001
NM_032237.5(POMK):c.10C>T (p.Gln4Ter) rs202006335 0.00001
NM_032237.5(POMK):c.111C>T (p.Cys37=) rs774288809 0.00001
NM_032237.5(POMK):c.115G>A (p.Asp39Asn) rs775170725 0.00001
NM_032237.5(POMK):c.168C>G (p.Pro56=) rs1392752976 0.00001
NM_032237.5(POMK):c.183G>A (p.Arg61=) rs778749095 0.00001
NM_032237.5(POMK):c.1A>G (p.Met1Val) rs1432594936 0.00001
NM_032237.5(POMK):c.254A>G (p.Lys85Arg) rs752925552 0.00001
NM_032237.5(POMK):c.282+7C>A rs747811554 0.00001
NM_032237.5(POMK):c.282+8C>T rs376305406 0.00001
NM_032237.5(POMK):c.282+9G>A rs779331401 0.00001
NM_032237.5(POMK):c.324A>C (p.Ser108=) rs764321374 0.00001
NM_032237.5(POMK):c.326A>G (p.Gln109Arg) rs766606876 0.00001
NM_032237.5(POMK):c.334A>G (p.Ser112Gly) rs765276659 0.00001
NM_032237.5(POMK):c.3G>C (p.Met1Ile) rs757689822 0.00001
NM_032237.5(POMK):c.408G>A (p.Thr136=) rs372221328 0.00001
NM_032237.5(POMK):c.410T>G (p.Leu137Arg) rs397509385 0.00001
NM_032237.5(POMK):c.43C>T (p.Arg15Ter) rs774013796 0.00001
NM_032237.5(POMK):c.45A>G (p.Arg15=) rs1387597417 0.00001
NM_032237.5(POMK):c.46G>A (p.Glu16Lys) rs760216520 0.00001
NM_032237.5(POMK):c.49G>T (p.Val17Leu) rs1811486866 0.00001
NM_032237.5(POMK):c.502A>C (p.Lys168Gln) rs756014333 0.00001
NM_032237.5(POMK):c.51G>T (p.Val17=) rs140164489 0.00001
NM_032237.5(POMK):c.580C>T (p.His194Tyr) rs565775459 0.00001
NM_032237.5(POMK):c.588T>C (p.Pro196=) rs766337800 0.00001
NM_032237.5(POMK):c.591G>A (p.Val197=) rs534295348 0.00001
NM_032237.5(POMK):c.619G>A (p.Asp207Asn) rs748538450 0.00001
NM_032237.5(POMK):c.620A>G (p.Asp207Gly) rs770018377 0.00001
NM_032237.5(POMK):c.627G>A (p.Pro209=) rs771102494 0.00001
NM_032237.5(POMK):c.633A>C (p.Thr211=) rs1011002628 0.00001
NM_032237.5(POMK):c.663C>A (p.Phe221Leu) rs145931566 0.00001
NM_032237.5(POMK):c.688G>A (p.Ala230Thr) rs1018638122 0.00001
NM_032237.5(POMK):c.808G>A (p.Asp270Asn) rs1295331795 0.00001
NM_032237.5(POMK):c.833A>G (p.Glu278Gly) rs757600130 0.00001
NM_032237.5(POMK):c.906C>T (p.Val302=) rs1276870660 0.00001
NM_032237.5(POMK):c.907C>T (p.Arg303Ter) rs528307346 0.00001
NM_032237.5(POMK):c.926T>C (p.Ile309Thr) rs750736847 0.00001
NM_032806.6(POMGNT2):c.106C>T (p.Leu36=) rs753784723 0.00001
NM_032806.6(POMGNT2):c.1186A>G (p.Met396Val) rs769720860 0.00001
NM_032806.6(POMGNT2):c.122A>G (p.Gln41Arg) rs775109394 0.00001
NM_032806.6(POMGNT2):c.1234G>T (p.Gly412Trp) rs879819421 0.00001
NM_032806.6(POMGNT2):c.1255C>T (p.Arg419Trp) rs1473558367 0.00001
NM_032806.6(POMGNT2):c.1256G>A (p.Arg419Gln) rs764678016 0.00001
NM_032806.6(POMGNT2):c.1270C>T (p.Arg424Cys) rs761086834 0.00001
NM_032806.6(POMGNT2):c.1275C>T (p.Ile425=) rs1006094827 0.00001
NM_032806.6(POMGNT2):c.1320C>T (p.Pro440=) rs377725879 0.00001
NM_032806.6(POMGNT2):c.1321G>A (p.Glu441Lys) rs1195755326 0.00001
NM_032806.6(POMGNT2):c.1329C>T (p.Leu443=) rs778395477 0.00001
NM_032806.6(POMGNT2):c.1349C>G (p.Thr450Ser) rs759686826 0.00001
NM_032806.6(POMGNT2):c.1414C>T (p.Arg472Trp) rs143892607 0.00001
NM_032806.6(POMGNT2):c.1416G>A (p.Arg472=) rs775636761 0.00001
NM_032806.6(POMGNT2):c.1457G>A (p.Arg486Gln) rs770439944 0.00001
NM_032806.6(POMGNT2):c.1465C>T (p.Arg489Trp) rs748981500 0.00001
NM_032806.6(POMGNT2):c.1476G>A (p.Ala492=) rs371889758 0.00001
NM_032806.6(POMGNT2):c.1494C>T (p.Ser498=) rs751826847 0.00001
NM_032806.6(POMGNT2):c.1495G>A (p.Glu499Lys) rs947616009 0.00001
NM_032806.6(POMGNT2):c.1501C>T (p.Arg501Cys) rs780492743 0.00001
NM_032806.6(POMGNT2):c.1502G>A (p.Arg501His) rs758493413 0.00001
NM_032806.6(POMGNT2):c.154G>A (p.Asp52Asn) rs200869992 0.00001
NM_032806.6(POMGNT2):c.1551G>A (p.Val517=) rs772907296 0.00001
NM_032806.6(POMGNT2):c.1555G>A (p.Glu519Lys) rs747691921 0.00001
NM_032806.6(POMGNT2):c.1669C>T (p.Leu557=) rs1477248373 0.00001
NM_032806.6(POMGNT2):c.181A>G (p.Met61Val) rs747275058 0.00001
NM_032806.6(POMGNT2):c.188G>A (p.Gly63Asp) rs779938160 0.00001
NM_032806.6(POMGNT2):c.204G>A (p.Val68=) rs201432948 0.00001
NM_032806.6(POMGNT2):c.210G>A (p.Thr70=) rs767368543 0.00001
NM_032806.6(POMGNT2):c.229C>T (p.Arg77Cys) rs143806708 0.00001
NM_032806.6(POMGNT2):c.24C>T (p.Asn8=) rs780544642 0.00001
NM_032806.6(POMGNT2):c.262A>G (p.Asn88Asp) rs376220705 0.00001
NM_032806.6(POMGNT2):c.264C>T (p.Asn88=) rs572228301 0.00001
NM_032806.6(POMGNT2):c.326C>T (p.Ser109Phe) rs761158868 0.00001
NM_032806.6(POMGNT2):c.332G>A (p.Arg111His) rs778907895 0.00001
NM_032806.6(POMGNT2):c.342A>G (p.Pro114=) rs1401054879 0.00001
NM_032806.6(POMGNT2):c.351C>T (p.Leu117=) rs1161648391 0.00001
NM_032806.6(POMGNT2):c.359C>T (p.Ser120Phe) rs954166238 0.00001
NM_032806.6(POMGNT2):c.38C>T (p.Ser13Leu) rs550179595 0.00001
NM_032806.6(POMGNT2):c.473G>A (p.Arg158His) rs387907300 0.00001
NM_032806.6(POMGNT2):c.479A>G (p.Asn160Ser) rs769772679 0.00001
NM_032806.6(POMGNT2):c.494T>C (p.Met165Thr) rs1559414655 0.00001
NM_032806.6(POMGNT2):c.498C>T (p.His166=) rs748906775 0.00001
NM_032806.6(POMGNT2):c.509del (p.Asp170fs) rs2089847365 0.00001
NM_032806.6(POMGNT2):c.50C>T (p.Ala17Val) rs771302608 0.00001
NM_032806.6(POMGNT2):c.511G>A (p.Asp171Asn) rs768063378 0.00001
NM_032806.6(POMGNT2):c.516G>C (p.Leu172=) rs553884155 0.00001
NM_032806.6(POMGNT2):c.529T>A (p.Tyr177Asn) rs1372990845 0.00001
NM_032806.6(POMGNT2):c.549C>T (p.Pro183=) rs1023281263 0.00001
NM_032806.6(POMGNT2):c.566C>T (p.Ala189Val) rs770636157 0.00001
NM_032806.6(POMGNT2):c.569G>A (p.Arg190Gln) rs200080447 0.00001
NM_032806.6(POMGNT2):c.576C>T (p.Phe192=) rs755626367 0.00001
NM_032806.6(POMGNT2):c.590G>A (p.Trp197Ter) rs752069645 0.00001
NM_032806.6(POMGNT2):c.609C>T (p.Phe203=) rs765429374 0.00001
NM_032806.6(POMGNT2):c.620A>G (p.Lys207Arg) rs753930877 0.00001
NM_032806.6(POMGNT2):c.70C>T (p.Arg24Trp) rs756555077 0.00001
NM_032806.6(POMGNT2):c.748C>A (p.Pro250Thr) rs759226377 0.00001
NM_032806.6(POMGNT2):c.759G>A (p.Pro253=) rs981484756 0.00001
NM_032806.6(POMGNT2):c.785A>G (p.Asn262Ser) rs538914614 0.00001
NM_032806.6(POMGNT2):c.807G>A (p.Arg269=) rs1051665665 0.00001
NM_032806.6(POMGNT2):c.810C>G (p.Phe270Leu) rs2089842378 0.00001
NM_032806.6(POMGNT2):c.846C>T (p.Val282=) rs761657478 0.00001
NM_032806.6(POMGNT2):c.855C>T (p.Gly285=) rs763778888 0.00001
NM_032806.6(POMGNT2):c.865A>G (p.Ile289Val) rs368381386 0.00001
NM_032806.6(POMGNT2):c.950A>G (p.Lys317Arg) rs1207636018 0.00001
NM_032806.6(POMGNT2):c.961G>A (p.Val321Met) rs918587505 0.00001
NM_032806.6(POMGNT2):c.998G>A (p.Arg333Gln) rs772311128 0.00001
NM_133642.5(LARGE1):c.*1229G>A rs918504034 0.00001
NM_133642.5(LARGE1):c.-34G>A rs759430272 0.00001
NM_133642.5(LARGE1):c.-359C>G rs886057468 0.00001
NM_133642.5(LARGE1):c.-500T>C rs968923312 0.00001
NM_133642.5(LARGE1):c.-527C>T rs956387343 0.00001
NM_133642.5(LARGE1):c.1005+12G>T rs1030394513 0.00001
NM_133642.5(LARGE1):c.1005+15T>G rs1414312676 0.00001
NM_133642.5(LARGE1):c.1006-14C>T rs1197844730 0.00001
NM_133642.5(LARGE1):c.1056C>A (p.Leu352=) rs369877399 0.00001
NM_133642.5(LARGE1):c.106+6A>C rs746650831 0.00001
NM_133642.5(LARGE1):c.1080G>A (p.Leu360=) rs774412531 0.00001
NM_133642.5(LARGE1):c.117C>T (p.Pro39=) rs140622529 0.00001
NM_133642.5(LARGE1):c.1182G>C (p.Val394=) rs751250015 0.00001
NM_133642.5(LARGE1):c.1229A>G (p.Asn410Ser) rs199912424 0.00001
NM_133642.5(LARGE1):c.1234C>T (p.Leu412=) rs748508322 0.00001
NM_133642.5(LARGE1):c.1287+13C>T rs759768595 0.00001
NM_133642.5(LARGE1):c.1288-8C>T rs768000708 0.00001
NM_133642.5(LARGE1):c.1299G>T (p.Gln433His) rs1463323644 0.00001
NM_133642.5(LARGE1):c.1331A>G (p.Tyr444Cys) rs748074253 0.00001
NM_133642.5(LARGE1):c.1390G>A (p.Glu464Lys) rs772985451 0.00001
NM_133642.5(LARGE1):c.1415C>T (p.Thr472Met) rs779725828 0.00001
NM_133642.5(LARGE1):c.1416G>A (p.Thr472=) rs755991003 0.00001
NM_133642.5(LARGE1):c.1432G>A (p.Ala478Thr) rs778360056 0.00001
NM_133642.5(LARGE1):c.1451+12G>A rs1029660389 0.00001
NM_133642.5(LARGE1):c.1462C>T (p.Leu488=) rs759041475 0.00001
NM_133642.5(LARGE1):c.1483T>C (p.Trp495Arg) rs267607209 0.00001
NM_133642.5(LARGE1):c.1501C>G (p.Leu501Val) rs966974831 0.00001
NM_133642.5(LARGE1):c.1525G>A (p.Glu509Lys) rs121908675 0.00001
NM_133642.5(LARGE1):c.1557C>T (p.Gly519=) rs763782820 0.00001
NM_133642.5(LARGE1):c.1585G>A (p.Val529Met) rs146923365 0.00001
NM_133642.5(LARGE1):c.1611G>A (p.Glu537=) rs372629986 0.00001
NM_133642.5(LARGE1):c.1614C>T (p.Gly538=) rs749791648 0.00001
NM_133642.5(LARGE1):c.164C>T (p.Thr55Met) rs766363552 0.00001
NM_133642.5(LARGE1):c.1654A>G (p.Lys552Glu) rs764803042 0.00001
NM_133642.5(LARGE1):c.1663A>G (p.Ser555Gly) rs760507626 0.00001
NM_133642.5(LARGE1):c.1702C>G (p.Pro568Ala) rs1934563241 0.00001
NM_133642.5(LARGE1):c.1706T>C (p.Met569Thr) rs561951366 0.00001
NM_133642.5(LARGE1):c.173G>A (p.Ser58Asn) rs774240856 0.00001
NM_133642.5(LARGE1):c.1799T>C (p.Leu600Pro) rs1930821948 0.00001
NM_133642.5(LARGE1):c.1833G>A (p.Ala611=) rs775318098 0.00001
NM_133642.5(LARGE1):c.1878-12C>T rs535915450 0.00001
NM_133642.5(LARGE1):c.1893G>A (p.Thr631=) rs138011042 0.00001
NM_133642.5(LARGE1):c.1902C>T (p.His634=) rs754149838 0.00001
NM_133642.5(LARGE1):c.1932C>T (p.Thr644=) rs764884886 0.00001
NM_133642.5(LARGE1):c.1933G>A (p.Ala645Thr) rs759095312 0.00001
NM_133642.5(LARGE1):c.206T>C (p.Met69Thr) rs1602977812 0.00001
NM_133642.5(LARGE1):c.2074-6T>C rs775368005 0.00001
NM_133642.5(LARGE1):c.2087T>C (p.Ile696Thr) rs200212868 0.00001
NM_133642.5(LARGE1):c.219G>A (p.Glu73=) rs2080766768 0.00001
NM_133642.5(LARGE1):c.2228G>A (p.Gly743Asp) rs746916767 0.00001
NM_133642.5(LARGE1):c.222G>T (p.Glu74Asp) rs373261094 0.00001
NM_133642.5(LARGE1):c.2234C>A (p.Ala745Asp) rs1254409268 0.00001
NM_133642.5(LARGE1):c.2243A>G (p.Lys748Arg) rs1185896635 0.00001
NM_133642.5(LARGE1):c.227A>C (p.Asn76Thr) rs752854659 0.00001
NM_133642.5(LARGE1):c.230G>A (p.Arg77His) rs1402888044 0.00001
NM_133642.5(LARGE1):c.245A>G (p.Gln82Arg) rs774035009 0.00001
NM_133642.5(LARGE1):c.251G>C (p.Ser84Thr) rs398124184 0.00001
NM_133642.5(LARGE1):c.265C>G (p.Arg89Gly) rs1359437833 0.00001
NM_133642.5(LARGE1):c.276C>T (p.Ser92=) rs759755959 0.00001
NM_133642.5(LARGE1):c.284G>A (p.Arg95Gln) rs773482355 0.00001
NM_133642.5(LARGE1):c.298A>G (p.Lys100Glu) rs985654114 0.00001
NM_133642.5(LARGE1):c.321C>A (p.Gly107=) rs776598184 0.00001
NM_133642.5(LARGE1):c.333C>T (p.Ser111=) rs746767821 0.00001
NM_133642.5(LARGE1):c.34T>C (p.Leu12=) rs1320102818 0.00001
NM_133642.5(LARGE1):c.393C>G (p.Val131=) rs776024597 0.00001
NM_133642.5(LARGE1):c.418G>A (p.Val140Ile) rs780394465 0.00001
NM_133642.5(LARGE1):c.442A>C (p.Asn148His) rs753419341 0.00001
NM_133642.5(LARGE1):c.459C>T (p.Val153=) rs199822331 0.00001
NM_133642.5(LARGE1):c.477C>T (p.Ser159=) rs150283131 0.00001
NM_133642.5(LARGE1):c.492-10C>T rs1452229191 0.00001
NM_133642.5(LARGE1):c.492-3C>T rs1222657512 0.00001
NM_133642.5(LARGE1):c.492-6C>G rs762612242 0.00001
NM_133642.5(LARGE1):c.494G>A (p.Arg165Gln) rs1343483735 0.00001
NM_133642.5(LARGE1):c.506A>G (p.His169Arg) rs886057461 0.00001
NM_133642.5(LARGE1):c.510C>G (p.Phe170Leu) rs770995323 0.00001
NM_133642.5(LARGE1):c.546G>A (p.Leu182=) rs755661957 0.00001
NM_133642.5(LARGE1):c.577G>A (p.Ala193Thr) rs1349882228 0.00001
NM_133642.5(LARGE1):c.583C>T (p.Arg195Cys) rs758364338 0.00001
NM_133642.5(LARGE1):c.597C>T (p.Tyr199=) rs996648375 0.00001
NM_133642.5(LARGE1):c.664C>T (p.Leu222=) rs148889570 0.00001
NM_133642.5(LARGE1):c.717C>T (p.Ile239=) rs761927446 0.00001
NM_133642.5(LARGE1):c.729G>A (p.Thr243=) rs1176140640 0.00001
NM_133642.5(LARGE1):c.74C>T (p.Thr25Ile) rs773210756 0.00001
NM_133642.5(LARGE1):c.755C>T (p.Ala252Val) rs764632554 0.00001
NM_133642.5(LARGE1):c.787+14A>T rs776201139 0.00001
NM_133642.5(LARGE1):c.79A>G (p.Ile27Val) rs772137666 0.00001
NM_133642.5(LARGE1):c.822T>C (p.Ser274=) rs1443538111 0.00001
NM_133642.5(LARGE1):c.893-9G>A rs758531510 0.00001
NM_133642.5(LARGE1):c.8G>C (p.Gly3Ala) rs780682266 0.00001
NM_133642.5(LARGE1):c.904T>C (p.Leu302=) rs755445182 0.00001
NM_133642.5(LARGE1):c.942G>A (p.Gln314=) rs776701293 0.00001
NM_133642.5(LARGE1):c.958G>A (p.Ala320Thr) rs374774937 0.00001
NM_152490.5(B3GALNT2):c.1025+15T>C rs1445379451 0.00001
NM_152490.5(B3GALNT2):c.1026-8G>T rs765661953 0.00001
NM_152490.5(B3GALNT2):c.1041G>A (p.Thr347=) rs775702524 0.00001
NM_152490.5(B3GALNT2):c.1065A>G (p.Thr355=) rs373246690 0.00001
NM_152490.5(B3GALNT2):c.1081A>G (p.Ile361Val) rs1470669806 0.00001
NM_152490.5(B3GALNT2):c.1089C>T (p.Leu363=) rs1057522976 0.00001
NM_152490.5(B3GALNT2):c.1104T>C (p.Asn368=) rs765751968 0.00001
NM_152490.5(B3GALNT2):c.1152-15T>C rs764693057 0.00001
NM_152490.5(B3GALNT2):c.1182C>T (p.Thr394=) rs373186743 0.00001
NM_152490.5(B3GALNT2):c.1197G>A (p.Glu399=) rs1398625005 0.00001
NM_152490.5(B3GALNT2):c.1208C>T (p.Pro403Leu) rs369378819 0.00001
NM_152490.5(B3GALNT2):c.1216G>A (p.Ala406Thr) rs369079608 0.00001
NM_152490.5(B3GALNT2):c.1286A>G (p.Asn429Ser) rs1374738059 0.00001
NM_152490.5(B3GALNT2):c.1308T>C (p.Tyr436=) rs371512953 0.00001
NM_152490.5(B3GALNT2):c.1311+1G>C rs1379052702 0.00001
NM_152490.5(B3GALNT2):c.1324A>T (p.Ser442Cys) rs1041647688 0.00001
NM_152490.5(B3GALNT2):c.1368+1G>A rs1479230229 0.00001
NM_152490.5(B3GALNT2):c.1371C>T (p.Asp457=) rs200368164 0.00001
NM_152490.5(B3GALNT2):c.1372A>G (p.Ser458Gly) rs1344429713 0.00001
NM_152490.5(B3GALNT2):c.1446G>A (p.Thr482=) rs202105146 0.00001
NM_152490.5(B3GALNT2):c.1478_1479del (p.Asp493fs) rs759968980 0.00001
NM_152490.5(B3GALNT2):c.1A>G (p.Met1Val) rs763641118 0.00001
NM_152490.5(B3GALNT2):c.205G>A (p.Val69Met) rs534508633 0.00001
NM_152490.5(B3GALNT2):c.254G>A (p.Ser85Asn) rs947223231 0.00001
NM_152490.5(B3GALNT2):c.384G>A (p.Ala128=) rs1049290415 0.00001
NM_152490.5(B3GALNT2):c.411G>A (p.Ser137=) rs1443841724 0.00001
NM_152490.5(B3GALNT2):c.428G>A (p.Arg143Gln) rs1256983608 0.00001
NM_152490.5(B3GALNT2):c.434T>C (p.Val145Ala) rs1684704696 0.00001
NM_152490.5(B3GALNT2):c.43G>A (p.Ala15Thr) rs997345764 0.00001
NM_152490.5(B3GALNT2):c.444T>C (p.Ser148=) rs780140983 0.00001
NM_152490.5(B3GALNT2):c.448C>T (p.Arg150Ter) rs1282726649 0.00001
NM_152490.5(B3GALNT2):c.461C>G (p.Pro154Arg) rs1684702121 0.00001
NM_152490.5(B3GALNT2):c.463A>G (p.Ile155Val) rs753582080 0.00001
NM_152490.5(B3GALNT2):c.492C>T (p.Tyr164=) rs1363202163 0.00001
NM_152490.5(B3GALNT2):c.493G>A (p.Asp165Asn) rs377646173 0.00001
NM_152490.5(B3GALNT2):c.555+12T>C rs1277419946 0.00001
NM_152490.5(B3GALNT2):c.555+5G>A rs373909279 0.00001
NM_152490.5(B3GALNT2):c.556-8A>G rs776132593 0.00001
NM_152490.5(B3GALNT2):c.602A>C (p.Gln201Pro) rs1372895091 0.00001
NM_152490.5(B3GALNT2):c.61C>A (p.Leu21Met) rs1185149901 0.00001
NM_152490.5(B3GALNT2):c.688C>T (p.Leu230Phe) rs768629547 0.00001
NM_152490.5(B3GALNT2):c.694G>A (p.Gly232Ser) rs775573521 0.00001
NM_152490.5(B3GALNT2):c.69G>T (p.Leu23=) rs1234413183 0.00001
NM_152490.5(B3GALNT2):c.700G>T (p.Val234Leu) rs778248252 0.00001
NM_152490.5(B3GALNT2):c.723G>A (p.Val241=) rs777394575 0.00001
NM_152490.5(B3GALNT2):c.733G>T (p.Asp245Tyr) rs751860328 0.00001
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu) rs367543072 0.00001
NM_152490.5(B3GALNT2):c.762+1G>A rs757347274 0.00001
NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met) rs367543074 0.00001
NM_152490.5(B3GALNT2):c.826A>G (p.Ile276Val) rs533620649 0.00001
NM_152490.5(B3GALNT2):c.833C>T (p.Thr278Ile) rs565013842 0.00001
NM_152490.5(B3GALNT2):c.842-1G>A rs764784497 0.00001
NM_152490.5(B3GALNT2):c.842-4A>G rs750335648 0.00001
NM_152490.5(B3GALNT2):c.842-6T>G rs1187623137 0.00001
NM_152490.5(B3GALNT2):c.845G>A (p.Gly282Asp) rs776153145 0.00001
NM_152490.5(B3GALNT2):c.893A>G (p.Asp298Gly) rs1170718692 0.00001
NM_152490.5(B3GALNT2):c.92C>T (p.Ala31Val) rs1286920217 0.00001
NM_152490.5(B3GALNT2):c.954T>A (p.Asp318Glu) rs994102365 0.00001
NM_152490.5(B3GALNT2):c.989G>A (p.Arg330His) rs771483345 0.00001
NM_153741.2(DPM3):c.129_130del (p.Tyr44fs) rs1557794919 0.00001
NM_153741.2(DPM3):c.178C>T (p.Arg60Cys) rs766751249 0.00001
NM_153741.2(DPM3):c.196G>T (p.Asp66Tyr) rs1204451277 0.00001
NM_153741.2(DPM3):c.208G>A (p.Ala70Thr) rs776662775 0.00001
NM_153741.2(DPM3):c.218A>C (p.Glu73Ala) rs745807155 0.00001
NM_153741.2(DPM3):c.266G>A (p.Gly89Glu) rs758821383 0.00001
NM_153741.2(DPM3):c.41T>C (p.Leu14Pro) rs778481307 0.00001
NM_153741.2(DPM3):c.60C>T (p.Ala20=) rs371295542 0.00001
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243 0.00001
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) rs749784223 0.00001
NM_170707.4(LMNA):c.1044G>T (p.Met348Ile) rs587777892 0.00001
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555 0.00001
NM_170707.4(LMNA):c.1155G>A (p.Glu385=) rs878855232 0.00001
NM_170707.4(LMNA):c.1157+19G>A rs757715731 0.00001
NM_170707.4(LMNA):c.1184C>T (p.Ser395Leu) rs267607561 0.00001
NM_170707.4(LMNA):c.1231G>T (p.Gly411Cys) rs727504852 0.00001
NM_170707.4(LMNA):c.1280G>A (p.Arg427His) rs747139279 0.00001
NM_170707.4(LMNA):c.1282A>G (p.Ser428Gly) rs1651628416 0.00001
NM_170707.4(LMNA):c.12G>A (p.Pro4=) rs369823958 0.00001
NM_170707.4(LMNA):c.1300G>A (p.Ala434Thr) rs748433620 0.00001
NM_170707.4(LMNA):c.1306A>G (p.Thr436Ala) rs876657849 0.00001
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) rs267607598 0.00001
NM_170707.4(LMNA):c.1363C>T (p.Arg455Cys) rs397517892 0.00001
NM_170707.4(LMNA):c.1364G>A (p.Arg455His) rs267607597 0.00001
NM_170707.4(LMNA):c.1381G>T (p.Asp461Tyr) rs267607642 0.00001
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) rs57920071 0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937 0.00001
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188 0.00001
NM_170707.4(LMNA):c.153G>T (p.Ser51=) rs751886390 0.00001
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) rs57318642 0.00001
NM_170707.4(LMNA):c.1601C>G (p.Thr534Ser) rs144740174 0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613 0.00001
NM_170707.4(LMNA):c.1662G>A (p.Glu554=) rs201936898 0.00001
NM_170707.4(LMNA):c.1699-9C>T rs776616872 0.00001
NM_170707.4(LMNA):c.1731T>C (p.Ala577=) rs776066211 0.00001
NM_170707.4(LMNA):c.1750C>T (p.Arg584Cys) rs578193315 0.00001
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) rs56657623 0.00001
NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) rs786205448 0.00001
NM_170707.4(LMNA):c.1825G>A (p.Gly609Arg) rs397517898 0.00001
NM_170707.4(LMNA):c.187A>C (p.Ile63Leu) rs899373360 0.00001
NM_170707.4(LMNA):c.1880G>A (p.Arg627His) rs745997478 0.00001
NM_170707.4(LMNA):c.1891G>A (p.Gly631Ser) rs951584348 0.00001
NM_170707.4(LMNA):c.293A>G (p.Glu98Gly) rs1441670218 0.00001
NM_170707.4(LMNA):c.369G>A (p.Lys123=) rs367938270 0.00001
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230 0.00001
NM_170707.4(LMNA):c.466C>T (p.Arg156Cys) rs760743233 0.00001
NM_170707.4(LMNA):c.496C>T (p.Arg166Trp) rs370200334 0.00001
NM_170707.4(LMNA):c.514-11C>T rs886045365 0.00001
NM_170707.4(LMNA):c.565C>T (p.Arg189Trp) rs267607626 0.00001
NM_170707.4(LMNA):c.65C>T (p.Ser22Leu) rs1016767319 0.00001
NM_170707.4(LMNA):c.71C>T (p.Thr24Ile) rs1195524446 0.00001
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) rs397517907 0.00001
NM_170707.4(LMNA):c.845G>A (p.Ser282Asn) rs1553265438 0.00001
NM_170707.4(LMNA):c.953C>T (p.Ala318Val) rs1212920276 0.00001
NM_170707.4(LMNA):c.96G>A (p.Lys32=) rs775429079 0.00001
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly) rs775159300 0.00001
NM_173660.5(DOK7):c.100+18G>A rs1361843879 0.00001
NM_173660.5(DOK7):c.1056C>T (p.Leu352=) rs751252312 0.00001
NM_173660.5(DOK7):c.1057T>C (p.Ser353Pro) rs931160069 0.00001
NM_173660.5(DOK7):c.1058C>T (p.Ser353Leu) rs757019137 0.00001
NM_173660.5(DOK7):c.1061C>T (p.Ser354Phe) rs756015202 0.00001
NM_173660.5(DOK7):c.1092G>T (p.Arg364=) rs767282152 0.00001
NM_173660.5(DOK7):c.1096A>G (p.Thr366Ala) rs556239795 0.00001
NM_173660.5(DOK7):c.109C>T (p.Leu37=) rs1283794146 0.00001
NM_173660.5(DOK7):c.1103A>G (p.Glu368Gly) rs375795223 0.00001
NM_173660.5(DOK7):c.1138G>C (p.Ala380Pro) rs760412846 0.00001
NM_173660.5(DOK7):c.1158C>T (p.Cys386=) rs770365337 0.00001
NM_173660.5(DOK7):c.1191G>C (p.Val397=) rs781489489 0.00001
NM_173660.5(DOK7):c.1214A>G (p.Tyr405Cys) rs746536929 0.00001
NM_173660.5(DOK7):c.1217A>G (p.Asp406Gly) rs1027188166 0.00001
NM_173660.5(DOK7):c.1227C>T (p.Arg409=) rs762828158 0.00001
NM_173660.5(DOK7):c.1228A>G (p.Ser410Gly) rs547633164 0.00001
NM_173660.5(DOK7):c.1247G>T (p.Arg416Ile) rs1392647950 0.00001
NM_173660.5(DOK7):c.1268A>G (p.Gln423Arg) rs756360879 0.00001
NM_173660.5(DOK7):c.1280G>A (p.Gly427Asp) rs2020433 0.00001
NM_173660.5(DOK7):c.12G>A (p.Ala4=) rs1202693776 0.00001
NM_173660.5(DOK7):c.1347G>A (p.Thr449=) rs776624533 0.00001
NM_173660.5(DOK7):c.1355G>A (p.Arg452Gln) rs777057956 0.00001
NM_173660.5(DOK7):c.1360C>T (p.Leu454=) rs1231920444 0.00001
NM_173660.5(DOK7):c.1367T>G (p.Met456Arg) rs753317302 0.00001
NM_173660.5(DOK7):c.1379A>G (p.Gln460Arg) rs898026035 0.00001
NM_173660.5(DOK7):c.1387G>A (p.Glu463Lys) rs745941308 0.00001
NM_173660.5(DOK7):c.1401T>C (p.Pro467=) rs764419050 0.00001
NM_173660.5(DOK7):c.1411C>T (p.Pro471Ser) rs764872565 0.00001
NM_173660.5(DOK7):c.1412C>T (p.Pro471Leu) rs535473251 0.00001
NM_173660.5(DOK7):c.1443C>T (p.His481=) rs749462644 0.00001
NM_173660.5(DOK7):c.1446G>A (p.Ala482=) rs773592493 0.00001
NM_173660.5(DOK7):c.1448G>A (p.Gly483Glu) rs761289689 0.00001
NM_173660.5(DOK7):c.1452A>G (p.Pro484=) rs1462346774 0.00001
NM_173660.5(DOK7):c.1478C>T (p.Pro493Leu) rs773679215 0.00001
NM_173660.5(DOK7):c.1482C>T (p.Val494=) rs771501211 0.00001
NM_173660.5(DOK7):c.1485T>A (p.Cys495Ter) rs1219587536 0.00001
NM_173660.5(DOK7):c.1513T>C (p.Ter505Arg) rs1189551686 0.00001
NM_173660.5(DOK7):c.151C>A (p.Leu51Met) rs761336523 0.00001
NM_173660.5(DOK7):c.193C>T (p.Leu65=) rs546630800 0.00001
NM_173660.5(DOK7):c.328G>A (p.Glu110Lys) rs1024410823 0.00001
NM_173660.5(DOK7):c.331+1G>T rs1349476281 0.00001
NM_173660.5(DOK7):c.383C>T (p.Pro128Leu) rs376659660 0.00001
NM_173660.5(DOK7):c.386C>T (p.Ala129Val) rs1158650422 0.00001
NM_173660.5(DOK7):c.408T>C (p.Asp136=) rs1219485664 0.00001
NM_173660.5(DOK7):c.412C>A (p.Leu138Ile) rs747942116 0.00001
NM_173660.5(DOK7):c.415G>A (p.Val139Ile) rs571769859 0.00001
NM_173660.5(DOK7):c.429C>T (p.Asp143=) rs747023250 0.00001
NM_173660.5(DOK7):c.436C>T (p.Pro146Ser) rs1727094027 0.00001
NM_173660.5(DOK7):c.438G>C (p.Pro146=) rs776760690 0.00001
NM_173660.5(DOK7):c.458A>C (p.Lys153Thr) rs1362167631 0.00001
NM_173660.5(DOK7):c.460C>G (p.Leu154Val) rs775014794 0.00001
NM_173660.5(DOK7):c.472C>T (p.Arg158Trp) rs753436594 0.00001
NM_173660.5(DOK7):c.476G>A (p.Arg159His) rs1485585052 0.00001
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg) rs758131044 0.00001
NM_173660.5(DOK7):c.490C>T (p.Pro164Ser) rs142756576 0.00001
NM_173660.5(DOK7):c.495C>T (p.Ser165=) rs1405222108 0.00001
NM_173660.5(DOK7):c.496G>A (p.Gly166Arg) rs781227659 0.00001
NM_173660.5(DOK7):c.49A>C (p.Lys17Gln) rs1726073976 0.00001
NM_173660.5(DOK7):c.514G>A (p.Gly172Arg) rs768892432 0.00001
NM_173660.5(DOK7):c.562G>A (p.Glu188Lys) rs1388813398 0.00001
NM_173660.5(DOK7):c.578G>A (p.Ser193Asn) rs760505816 0.00001
NM_173660.5(DOK7):c.579C>T (p.Ser193=) rs766358840 0.00001
NM_173660.5(DOK7):c.596del (p.Ile199fs) rs797045528 0.00001
NM_173660.5(DOK7):c.598G>A (p.Val200Ile) rs1388192187 0.00001
NM_173660.5(DOK7):c.602G>A (p.Arg201Gln) rs1339181692 0.00001
NM_173660.5(DOK7):c.635T>C (p.Leu212Pro) rs553985062 0.00001
NM_173660.5(DOK7):c.649C>T (p.Pro217Ser) rs1301546614 0.00001
NM_173660.5(DOK7):c.652+5G>A rs772918388 0.00001
NM_173660.5(DOK7):c.655C>G (p.Pro219Ala) rs956613882 0.00001
NM_173660.5(DOK7):c.663C>G (p.Pro221=) rs914998338 0.00001
NM_173660.5(DOK7):c.666G>A (p.Pro222=) rs756895721 0.00001
NM_173660.5(DOK7):c.675G>A (p.Ser225=) rs780065823 0.00001
NM_173660.5(DOK7):c.676A>G (p.Thr226Ala) rs1447016347 0.00001
NM_173660.5(DOK7):c.691G>A (p.Val231Met) rs369297851 0.00001
NM_173660.5(DOK7):c.716T>G (p.Leu239Arg) rs1023898774 0.00001
NM_173660.5(DOK7):c.759G>A (p.Arg253=) rs759824901 0.00001
NM_173660.5(DOK7):c.762G>A (p.Pro254=) rs763623892 0.00001
NM_173660.5(DOK7):c.766A>G (p.Ser256Gly) rs750004938 0.00001
NM_173660.5(DOK7):c.772+9G>A rs778823411 0.00001
NM_173660.5(DOK7):c.849A>G (p.Ala283=) rs756234763 0.00001
NM_173660.5(DOK7):c.878G>T (p.Ser293Ile) rs767303929 0.00001
NM_173660.5(DOK7):c.945A>C (p.Ser315=) rs757723197 0.00001
NM_173660.5(DOK7):c.946A>G (p.Arg316Gly) rs898373845 0.00001
GRCh37/hg19 22q12.3(chr22:34152899-34236578)
GRCh38/hg38 21q22.3(chr21:46111353-46119948)x1
LARGE1, GLN87FS
NC_000001.10:g.(?_155112438)_(155112716_?)dup
NC_000001.10:g.(?_235543365)_(235619016_?)dup
NC_000001.10:g.(?_235609505)_(235668781_?)dup
NC_000001.10:g.(?_235613501)_(235667572_?)dup
NC_000001.10:g.(?_235613511)_(235629041_?)dup
NC_000001.10:g.(?_235613511)_(235658148_?)dup
NC_000001.10:g.(?_235613511)_(235667562_?)dup
NC_000001.10:g.(?_235616382)_(235643485_?)del
NC_000001.10:g.(?_235628933)_(235629051_?)del
NC_000001.10:g.(?_235634154)_(235647841_?)dup
NC_000001.10:g.(?_235634154)_(235667552_?)dup
NC_000001.10:g.(?_235652463)_(235658148_?)dup
NC_000001.10:g.(?_25870190)_(26142209_?)del
NC_000001.10:g.(?_26128487)_(26128628_?)dup
NC_000001.10:g.(?_46654371)_(46663513_?)dup
NC_000001.10:g.(?_46654381)_(46656466_?)del
NC_000001.10:g.(?_46654381)_(46659607_?)dup
NC_000001.10:g.(?_46654904)_(46660083_?)dup
NC_000001.10:g.(?_46654942)_(46655681_?)dup
NC_000001.10:g.(?_46654942)_(46656476_?)dup
NC_000001.10:g.(?_46654942)_(46661769_?)dup
NC_000001.10:g.(?_46654942)_(46663493_?)dup
NC_000001.10:g.(?_46655193)_(46661449_?)del
NC_000001.10:g.(?_46656135)_(46656466_?)dup
NC_000001.10:g.(?_46656382)_(46662766_?)del
NC_000001.10:g.(?_46662483)_(46671639_?)del
NC_000001.10:g.(?_46663448)_(46664153_?)del
NC_000001.11:g.(?_155139952)_(155140340_?)dup
NC_000001.11:g.(?_235465599)_(235465734_?)del
NC_000001.11:g.(?_235470840)_(235470970_?)dup
NC_000001.11:g.(?_46188709)_(46194411_?)dup
NC_000001.11:g.(?_46189232)_(46197831_?)dup
NC_000001.11:g.(?_46190463)_(46190794_?)del
NC_000001.11:g.235455553ACTT[3]
NC_000002.11:g.(238247761_238249094)_(238257307_238258789)del
NC_000002.11:g.(?_236403331)_(242801596_?)del
NC_000002.11:g.(?_237481970)_(238305470_?)del
NC_000002.11:g.(?_237481970)_(238305480_?)dup
NC_000002.11:g.(?_238233407)_(238305470_?)dup
NC_000002.11:g.(?_238233417)_(238428692_?)dup
NC_000002.11:g.(?_238242073)_(238243552_?)del
NC_000002.11:g.(?_238272973)_(238281000_?)del
NC_000002.11:g.(?_238289548)_(238296837_?)del
NC_000002.11:g.238258810delG rs794729205
NC_000002.12:g.(?_236573327)_(237388194_?)dup
NC_000002.12:g.(?_237333450)_(237334889_?)del
NC_000002.12:g.(?_237358501)_(237361194_?)del
NC_000002.12:g.(?_237362747)_(237372158_?)del
NC_000002.12:g.237345214del
NC_000003.11:g.(?_40924962)_(43760024_?)dup
NC_000003.11:g.(?_43121161)_(43122943_?)dup
NC_000003.11:g.(?_43121181)_(43122923_?)del
NC_000003.11:g.(?_49547968)_(49548272_?)dup
NC_000003.11:g.(?_49568220)_(49570642_?)dup
NC_000004.11:g.(?_3465093)_(3495238_?)dup
NC_000004.11:g.(?_3465103)_(3465298_?)del
NC_000004.11:g.(?_3465103)_(3465298_?)dup
NC_000004.11:g.(?_3465103)_(3495228_?)dup
NC_000004.11:g.(?_3494466)_(3495228_?)del
NC_000004.11:g.(?_3494787)_3495019dup
NC_000004.12:g.(?_3463366)_(3493511_?)del
NC_000004.12:g.(?_3473386)_(3489816_?)del
NC_000004.12:g.(?_3485519)_(3493521_?)del
NC_000004.12:g.(?_3485529)_(3485668_?)del
NC_000004.12:g.(?_3485529)_(3493511_?)del
NC_000006.11:g.(?_75796253)_(75855181_?)del
NC_000006.11:g.(?_75796253)_(75912518_?)del
NC_000006.11:g.(?_75796263)_(75813546_?)dup
NC_000006.11:g.(?_75806949)_(75807042_?)del
NC_000006.11:g.(?_75833026)_(75912508_?)del
NC_000006.11:g.(?_75833644)_(75847315_?)del
NC_000006.11:g.(?_75855798)_(75861023_?)del
NC_000006.11:g.(?_75858054)_(75912508_?)dup
NC_000006.12:g.(?_75086537)_(75202802_?)dup
NC_000006.12:g.128960376_129175759del
NC_000007.13:g.(?_16131310)_(16131434_?)dup
NC_000007.13:g.(?_16131310)_(16255832_?)del
NC_000007.13:g.(?_16131310)_(16460957_?)dup
NC_000007.13:g.(?_16131320)_(16255842_?)del
NC_000007.13:g.(?_16131320)_(16348272_?)dup
NC_000007.13:g.(?_16131320)_(16460947_?)del
NC_000007.13:g.(?_16297995)_(16317871_?)del
NC_000007.13:g.(?_16341026)_(16341111_?)del
NC_000007.13:g.(?_16341026)_(16348272_?)del
NC_000007.13:g.(?_16341026)_(16415886_?)del
NC_000007.13:g.(?_16341026)_(16460947_?)dup
NC_000007.13:g.(?_16348128)_(16445982_?)del
NC_000007.13:g.(?_16415697)_(16415886_?)dup
NC_000007.13:g.(?_16415697)_(16460947_?)del
NC_000007.13:g.(?_16415697)_(16460947_?)dup
NC_000007.13:g.(?_16415707)_(16415876_?)del
NC_000007.13:g.(?_16445666)_(16445982_?)del
NC_000007.13:g.(?_16445666)_(16445982_?)dup
NC_000007.13:g.(?_16460671)_(16460947_?)del
NC_000007.14:g.(?_16091675)_(16216217_?)del
NC_000007.14:g.(?_16216046)_(16216217_?)del
NC_000007.14:g.(?_16216046)_(16376261_?)del
NC_000007.14:g.(?_16216056)_(16216207_?)del
NC_000007.14:g.(?_16258370)_(16259032_?)del
NC_000007.14:g.(?_16258380)_(16259022_?)del
NC_000007.14:g.(?_16301411)_(16308637_?)del
NC_000007.14:g.(?_16308513)_(16376251_?)del
NC_000007.14:g.(?_16308523)_(16689906_?)del
NC_000007.14:g.(?_16376072)_(16376261_?)del
NC_000007.14:g.(?_16406061)_(16406337_?)del
NC_000008.10:g.(?_42693095)_(42978030_?)dup
NC_000008.10:g.(?_42958672)_(42978040_?)dup
NC_000008.10:g.(?_42958682)_(42958983_?)dup
NC_000008.10:g.(?_42958682)_(42978030_?)dup
NC_000008.10:g.(?_42958692)_(43054712_?)dup
NC_000008.10:g.(?_42977230)_(43054712_?)dup
NC_000008.11:g.(?_43103539)_(43103840_?)del
NC_000009.11:g.(?_107546596)_(108536361_?)dup
NC_000009.11:g.(?_108320401)_(108337428_?)del
NC_000009.11:g.(?_108335926)_(108403409_?)del
NC_000009.11:g.(?_108337304)_(108358948_?)dup
NC_000009.11:g.(?_108337304)_(108397555_?)del
NC_000009.11:g.(?_108337314)_(108468054_?)del
NC_000009.11:g.(?_108358859)_(108484922_?)del
NC_000009.11:g.(?_108358859)_(108510491_?)dup
NC_000009.11:g.(?_108377539)_(108377708_?)dup
NC_000009.11:g.(?_108377549)_(108382383_?)del
NC_000009.11:g.(?_108397312)_(108397545_?)del
NC_000009.11:g.(?_130216797)_(130953151_?)dup
NC_000009.11:g.(?_130216807)_(130953136_?)del
NC_000009.11:g.(?_134389752)_(134390863_?)del
NC_000009.11:g.(?_134395447)_(134395600_?)dup
NC_000009.12:g.(?_105546358)_(105620061_?)del
NC_000009.12:g.(?_105575023)_(105575147_?)del
NC_000009.12:g.(?_105575023)_(105635274_?)dup
NC_000009.12:g.(?_105606576)_(105641128_?)del
NC_000009.12:g.(?_130664644)_(131523116_?)dup
NC_000009.12:g.105604215del
NC_000011.9:g.(?_66099747)_(66291373_?)dup
NC_000012.11:g.(?_56091458)_(56093230_?)del
NC_000012.11:g.(?_64198994)_(64199204_?)dup
NC_000012.12:g.(?_55685048)_(55707692_?)dup
NC_000012.12:g.(?_55697675)_(55698937_?)del
NC_000014.8:g.(?_77743719)_(77787024_?)dup
NC_000014.8:g.(?_77755085)_(77762636_?)del
NC_000019.10:g.(?_46605817)_(46756948_?)dup
NC_000019.10:g.(?_46755431)_(46756958_?)del
NC_000019.10:g.(?_46755441)_(46756948_?)dup
NC_000019.9:g.(?_47255735)_(47259270_?)del
NC_000019.9:g.(?_47255735)_47259271del
NC_000019.9:g.(?_47258698)_(47260205_?)del
NC_000021.8:g.(?_47400663)_(47425963_?)dup
NC_000021.8:g.(?_47401745)_(47532511_?)dup
NC_000021.8:g.(?_47401755)_(47546465_?)dup
NC_000021.8:g.(?_47407403)_(47407578_?)del
NC_000021.8:g.(?_47407419)_(47408291_?)del
NC_000021.8:g.(?_47408988)_(47410346_?)del
NC_000021.8:g.(?_47410282)_(47410965_?)dup
NC_000021.8:g.(?_47410677)_(47410965_?)dup
NC_000021.8:g.(?_47417315)_(47423927_?)dup
NC_000021.8:g.(?_47422287)_(47423978_?)del
NC_000021.8:g.(?_47423046)_(47429562_?)del
NC_000021.8:g.(?_47517033)_(47553763_?)dup
NC_000021.8:g.(?_47518024)_47552476dup
NC_000021.8:g.(?_47529674)_(47540994_?)del
NC_000021.8:g.(?_47529674)_47540994del
NC_000021.8:g.(?_47533070)_47584395del
NC_000021.8:g.(?_47536545)_(47536748_?)dup
NC_000021.8:g.(?_47536737)_(47537399_?)del
NC_000021.8:g.(?_47542769)_(47546475_?)dup
NC_000021.8:g.(?_47545206)_(47546374_?)del
NC_000021.8:g.(?_47551858)_(47552476_?)dup
NC_000021.9:g.(?_45981831)_(46004033_?)dup
NC_000021.9:g.(?_45981831)_(46132572_?)del
NC_000021.9:g.(?_45986526)_(45987654_?)del
NC_000021.9:g.(?_45989064)_(45989157_?)del
NC_000021.9:g.(?_46111467)_(46112834_?)dup
NC_000021.9:g.(?_46111467)_(46121133_?)del
NC_000021.9:g.(?_46111477)_(46121123_?)del
NC_000021.9:g.(?_46113998)_(46116063_?)dup
NC_000021.9:g.46116773dup
NC_000021.9:g.46119791_46119798dup
NC_000022.10:g.(33756233_33756918)_(33759931_33760459)delins42.9KB
NC_000022.10:g.(?_32232938)_(34157463_?)dup
NC_000022.10:g.(?_33559508)_(33673261_?)del
NC_000022.10:g.(?_33670403)_(33679344_?)del
NC_000022.10:g.(?_33670403)_(33828261_?)dup
NC_000022.10:g.(?_33700195)_(33712254_?)del
NC_000022.10:g.(?_33712051)_(33733807_?)del
NC_000022.10:g.(?_33733612)_(33828271_?)del
NC_000022.10:g.(?_33733612)_(34157463_?)del
NC_000022.10:g.(?_33777885)_(33828271_?)del
NC_000022.10:g.(?_33828127)_(33961025_?)del
NC_000022.10:g.(?_33828137)_(34157473_?)del
NC_000022.10:g.(?_33960814)_(33961025_?)del
NC_000022.10:g.(?_33960814)_(34157463_?)del
NC_000022.10:g.(?_33960824)_(34022320_?)del
NC_000022.10:g.(?_33960824)_(34046664_?)del
NC_000022.10:g.(?_34000401)_(34046674_?)del
NC_000022.10:g.(?_34000401)_(34157463_?)del
NC_000022.10:g.(?_34022208)_(34022330_?)del
NC_000022.10:g.(?_34022208)_(34157483_?)del
NC_000022.10:g.(?_34022218)_(34157473_?)del
NC_000022.10:g.(?_34157338)_(34157463_?)del
NC_000022.10:g.(?_34157338)_(34157463_?)dup
NC_000022.10:g.(?_50885571)_(51021210_?)del
NC_000022.10:g.(?_51017600)_(51021220_?)dup
NC_000022.10:g.(?_51017610)_(51021210_?)del
NC_000022.11:g.(?_33761351)_(33761496_?)del
NC_000022.11:g.(?_33761361)_(33761486_?)del
NC_000022.11:g.(?_50579171)_(50580670_?)dup
NC_000022.11:g.(?_50579171)_(50582791_?)del
NG_009929.2:g.523149_586240del
NG_042181.1:(g.89607_91434)_(105703_107097)del
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000426.3(LAMA2):c.6993_7155del163 (p.Ser2331Argfs) rs1554301637
NM_000426.3(LAMA2):c.[2049_2050delAG];[523G>T]
NM_000426.3(LAMA2):c.[2461A>C;8282T>C]
NM_000426.3(LAMA2):c.[7691T>C];[9253C>T]
NM_000426.4(LAMA2):c.1011del (p.Thr339fs)
NM_000426.4(LAMA2):c.1027+1G>T rs1064797327
NM_000426.4(LAMA2):c.1051G>T (p.Glu351Ter) rs1778991422
NM_000426.4(LAMA2):c.1065T>A (p.Tyr355Ter) rs1436470033
NM_000426.4(LAMA2):c.106C>T (p.Gln36Ter) rs1360796756
NM_000426.4(LAMA2):c.1097T>A (p.Leu366Ter)
NM_000426.4(LAMA2):c.112+1G>T
NM_000426.4(LAMA2):c.1121_1129delinsTACTT (p.Gly374fs)
NM_000426.4(LAMA2):c.1122del (p.Gly376fs) rs1338860420
NM_000426.4(LAMA2):c.113-2A>C
NM_000426.4(LAMA2):c.113-639del rs1787824675
NM_000426.4(LAMA2):c.1188dup (p.Phe397fs)
NM_000426.4(LAMA2):c.1195_1198del (p.Arg399fs)
NM_000426.4(LAMA2):c.1206G>C (p.Gly402=) rs1167723109
NM_000426.4(LAMA2):c.1207-1G>A
NM_000426.4(LAMA2):c.1233C>A (p.Cys411Ter)
NM_000426.4(LAMA2):c.1255del (p.Ile419fs) rs1185229314
NM_000426.4(LAMA2):c.1263del (p.Ser421_Leu422insTer) rs1779702214
NM_000426.4(LAMA2):c.1278T>A (p.Cys426Ter) rs1779703136
NM_000426.4(LAMA2):c.1282_1283dup (p.Asp429fs) rs2114993311
NM_000426.4(LAMA2):c.1289_1290insT (p.Glu430fs)
NM_000426.4(LAMA2):c.1306+2T>G rs1326401124
NM_000426.4(LAMA2):c.1307-1G>A rs1554234051
NM_000426.4(LAMA2):c.1307-2A>G
NM_000426.4(LAMA2):c.1358G>C (p.Cys453Ser) rs1554234086
NM_000426.4(LAMA2):c.1365del (p.Cys456fs)
NM_000426.4(LAMA2):c.1415_1429del (p.Ser472_Ser476del) rs1554234118
NM_000426.4(LAMA2):c.1429A>T (p.Lys477Ter)
NM_000426.4(LAMA2):c.1454C>T (p.Pro485Leu) rs146522136
NM_000426.4(LAMA2):c.1464C>A (p.Cys488Ter) rs1780700010
NM_000426.4(LAMA2):c.1467+2T>C rs1554234163
NM_000426.4(LAMA2):c.1490_1491del (p.Asp496_Cys497insTer)
NM_000426.4(LAMA2):c.1522C>T (p.Gln508Ter)
NM_000426.4(LAMA2):c.1533_1534insG (p.Trp512fs)
NM_000426.4(LAMA2):c.155T>G (p.Ile52Ser) rs1380745222
NM_000426.4(LAMA2):c.1560T>A (p.Cys520Ter) rs1781455687
NM_000426.4(LAMA2):c.1561_1562del (p.Ser521fs)
NM_000426.4(LAMA2):c.1612C>T (p.Gln538Ter) rs1781592001
NM_000426.4(LAMA2):c.1629G>A (p.Trp543Ter)
NM_000426.4(LAMA2):c.1638_1641del (p.Asp547fs)
NM_000426.4(LAMA2):c.1657C>T (p.Arg553Ter) rs1303773212
NM_000426.4(LAMA2):c.1669CAG[1] (p.Gln558del) rs775570308
NM_000426.4(LAMA2):c.1669del (p.Gln557fs)
NM_000426.4(LAMA2):c.1682_1688del (p.Leu561fs)
NM_000426.4(LAMA2):c.1686_1687insA (p.Ser563fs)
NM_000426.4(LAMA2):c.16_49del (p.Gly6fs)
NM_000426.4(LAMA2):c.1727_1767del (p.Gln576fs) rs1583219849
NM_000426.4(LAMA2):c.172T>C (p.Cys58Arg) rs1731993495
NM_000426.4(LAMA2):c.1749C>G (p.Tyr583Ter)
NM_000426.4(LAMA2):c.1752G>A (p.Trp584Ter) rs1781606569
NM_000426.4(LAMA2):c.1755C>T (p.Ser585=) rs1012171328
NM_000426.4(LAMA2):c.176G>A (p.Gly59Glu) rs748303070
NM_000426.4(LAMA2):c.1782_1782+1delinsT
NM_000426.4(LAMA2):c.1793_1795del (p.Val598del) rs1165542235
NM_000426.4(LAMA2):c.1795GGA[1] (p.Gly600del) rs753417521
NM_000426.4(LAMA2):c.1823_1824del (p.Ser607_Tyr608insTer)
NM_000426.4(LAMA2):c.1831G>T (p.Glu611Ter) rs1786068382
NM_000426.4(LAMA2):c.1834G>T (p.Glu612Ter) rs1786068836
NM_000426.4(LAMA2):c.183del (p.Gly62fs)
NM_000426.4(LAMA2):c.184G>T (p.Gly62Ter) rs398123368
NM_000426.4(LAMA2):c.1852G>T (p.Glu618Ter) rs1786070922
NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs) rs746844753
NM_000426.4(LAMA2):c.190G>T (p.Glu64Ter) rs1231305572
NM_000426.4(LAMA2):c.1929_1931delinsT (p.His644fs)
NM_000426.4(LAMA2):c.1942G>T (p.Glu648Ter) rs1786301728
NM_000426.4(LAMA2):c.1973_1991delinsTAA (p.Glu658fs)
NM_000426.4(LAMA2):c.1976C>A (p.Ser659Ter)
NM_000426.4(LAMA2):c.198C>A (p.Tyr66Ter) rs1042843028
NM_000426.4(LAMA2):c.2006_2012del (p.Val669fs)
NM_000426.4(LAMA2):c.2044A>T (p.Lys682Ter) rs1786309995
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_000426.4(LAMA2):c.2054T>C (p.Leu685Pro) rs746641607
NM_000426.4(LAMA2):c.2069A>G (p.Tyr690Cys) rs2114287747
NM_000426.4(LAMA2):c.2096+1G>A rs1554256965
NM_000426.4(LAMA2):c.2116G>T (p.Glu706Ter) rs1787059737
NM_000426.4(LAMA2):c.2164G>A (p.Glu722Lys)
NM_000426.4(LAMA2):c.2166dup (p.Val723fs)
NM_000426.4(LAMA2):c.21CCT[4] (p.Leu13dup) rs1347823295
NM_000426.4(LAMA2):c.2217G>A (p.Trp739Ter) rs192317605
NM_000426.4(LAMA2):c.2230C>T (p.Arg744Ter) rs775676341
NM_000426.4(LAMA2):c.2233dup (p.Val745fs)
NM_000426.4(LAMA2):c.2323-1G>A rs1278823424
NM_000426.4(LAMA2):c.2323-2A>T
NM_000426.4(LAMA2):c.2328T>A (p.Cys776Ter) rs1787862380
NM_000426.4(LAMA2):c.2348del (p.Pro783fs)
NM_000426.4(LAMA2):c.2350dup (p.Tyr784fs) rs1554260284
NM_000426.4(LAMA2):c.2383G>T (p.Glu795Ter)
NM_000426.4(LAMA2):c.2395G>T (p.Gly799Ter)
NM_000426.4(LAMA2):c.2400_2401insAGGAAGACATTTA (p.Ser801fs)
NM_000426.4(LAMA2):c.2404G>T (p.Glu802Ter)
NM_000426.4(LAMA2):c.2450+5_2450+8del rs1554260313
NM_000426.4(LAMA2):c.2461A>C (p.Thr821Pro) rs186538779
NM_000426.4(LAMA2):c.2461_2476del (p.Thr821fs)
NM_000426.4(LAMA2):c.2471T>A (p.Leu824Ter)
NM_000426.4(LAMA2):c.2514del (p.Tyr839fs)
NM_000426.4(LAMA2):c.2521G>T (p.Gly841Ter)
NM_000426.4(LAMA2):c.2537+1G>C
NM_000426.4(LAMA2):c.2556del (p.Phe852fs) rs750731624
NM_000426.4(LAMA2):c.2557G>T (p.Gly853Ter) rs1789386860
NM_000426.4(LAMA2):c.2587C>T (p.Gln863Ter) rs897845923
NM_000426.4(LAMA2):c.2658T>A (p.Cys886Ter) rs1789395190
NM_000426.4(LAMA2):c.2670del (p.Lys890fs)
NM_000426.4(LAMA2):c.2703T>A (p.Cys901Ter) rs1789398455
NM_000426.4(LAMA2):c.2710G>T (p.Gly904Ter) rs1789399141
NM_000426.4(LAMA2):c.2718del (p.Phe906fs)
NM_000426.4(LAMA2):c.2719G>T (p.Gly907Ter) rs1789399872
NM_000426.4(LAMA2):c.2723del (p.Asp908fs)
NM_000426.4(LAMA2):c.2749+1G>A rs759555791
NM_000426.4(LAMA2):c.2768_2771dup (p.Ser925fs)
NM_000426.4(LAMA2):c.2776_2782del (p.Phe926fs)
NM_000426.4(LAMA2):c.2783_2784del (p.Glu928fs)
NM_000426.4(LAMA2):c.2788del (p.Cys930fs)
NM_000426.4(LAMA2):c.2790C>A (p.Cys930Ter)
NM_000426.4(LAMA2):c.2803G>T (p.Gly935Ter)
NM_000426.4(LAMA2):c.2811T>A (p.Cys937Ter)
NM_000426.4(LAMA2):c.2811_2812del (p.Cys937_Glu938delinsTer)
NM_000426.4(LAMA2):c.283+2T>A
NM_000426.4(LAMA2):c.2833G>A (p.Gly945Ser) rs372574661
NM_000426.4(LAMA2):c.2834del (p.Gly945fs) rs2114432671
NM_000426.4(LAMA2):c.283C>T (p.Gln95Ter) rs1018100729
NM_000426.4(LAMA2):c.2856+1G>C
NM_000426.4(LAMA2):c.286A>T (p.Arg96Ter)
NM_000426.4(LAMA2):c.2879C>G (p.Ser960Ter)
NM_000426.4(LAMA2):c.2916del (p.Phe972fs)
NM_000426.4(LAMA2):c.2937_2938del (p.Cys979_Glu980delinsTer)
NM_000426.4(LAMA2):c.2950C>T (p.Gln984Ter) rs1773282962
NM_000426.4(LAMA2):c.2957G>A (p.Trp986Ter) rs1773283278
NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter) rs398123371
NM_000426.4(LAMA2):c.2968G>T (p.Gly990Ter) rs1187391940
NM_000426.4(LAMA2):c.3033C>A (p.Cys1011Ter)
NM_000426.4(LAMA2):c.3037+1G>T rs1773291512
NM_000426.4(LAMA2):c.3089_3126dup (p.Lys1043fs) rs2114460969
NM_000426.4(LAMA2):c.30_32del (p.Leu13del) rs1278217420
NM_000426.4(LAMA2):c.3123T>A (p.Cys1041Ter) rs1773502803
NM_000426.4(LAMA2):c.3139_3140insT (p.Asn1047fs)
NM_000426.4(LAMA2):c.3172A>T (p.Lys1058Ter) rs1583447808
NM_000426.4(LAMA2):c.3186C>A (p.Cys1062Ter) rs1774316033
NM_000426.4(LAMA2):c.3232C>T (p.Gln1078Ter) rs2114493974
NM_000426.4(LAMA2):c.3235T>C (p.Cys1079Arg) rs1583469739
NM_000426.4(LAMA2):c.3243T>A (p.Cys1081Ter) rs944013929
NM_000426.4(LAMA2):c.3270T>A (p.Cys1090Ter) rs1774323015
NM_000426.4(LAMA2):c.3283C>T (p.Arg1095Ter) rs376088608
NM_000426.4(LAMA2):c.3290_3291del (p.His1097fs)
NM_000426.4(LAMA2):c.3294del (p.His1097_Trp1098insTer) rs764839142
NM_000426.4(LAMA2):c.3296A>G (p.Asn1099Ser) rs35065563
NM_000426.4(LAMA2):c.32T>C (p.Leu11Pro) rs730880252
NM_000426.4(LAMA2):c.3329del (p.Leu1110fs) rs1583470073
NM_000426.4(LAMA2):c.3409A>T (p.Lys1137Ter)
NM_000426.4(LAMA2):c.3412-2A>C rs1562449164
NM_000426.4(LAMA2):c.3421del (p.Glu1141fs)
NM_000426.4(LAMA2):c.3454A>T (p.Lys1152Ter) rs1774465781
NM_000426.4(LAMA2):c.3556-1G>C rs2114501078
NM_000426.4(LAMA2):c.3562_3563del (p.Leu1188fs) rs1583475938
NM_000426.4(LAMA2):c.3623_3645del (p.Lys1208fs) rs727503992
NM_000426.4(LAMA2):c.3630del (p.Ile1210fs) rs398123372
NM_000426.4(LAMA2):c.3704G>A (p.Trp1235Ter) rs1774541313
NM_000426.4(LAMA2):c.3705G>A (p.Trp1235Ter)
NM_000426.4(LAMA2):c.370G>T (p.Val124Leu) rs1278777348
NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter) rs121913569
NM_000426.4(LAMA2):c.3735+1G>A
NM_000426.4(LAMA2):c.3736-2A>G rs372715292
NM_000426.4(LAMA2):c.3799_3821del (p.Phe1267fs) rs750220830
NM_000426.4(LAMA2):c.3886_3889del (p.Ile1296fs) rs1774572282
NM_000426.4(LAMA2):c.3896T>A (p.Leu1299Ter)
NM_000426.4(LAMA2):c.389del (p.Leu130fs)
NM_000426.4(LAMA2):c.3924+2T>C rs1554269966
NM_000426.4(LAMA2):c.3938del (p.Tyr1313fs) rs2114502928
NM_000426.4(LAMA2):c.3955C>T (p.Arg1319Ter) rs1180309541
NM_000426.4(LAMA2):c.397-4_478del rs1554217494
NM_000426.4(LAMA2):c.3982del (p.Asp1328fs)
NM_000426.4(LAMA2):c.4019_4024dup (p.Ile1341_Lys1342insIleIle) rs1554270059
NM_000426.4(LAMA2):c.4058+1G>A rs2114503272
NM_000426.4(LAMA2):c.4097_4112del (p.Arg1366fs)
NM_000426.4(LAMA2):c.4106del (p.Thr1369fs)
NM_000426.4(LAMA2):c.4110delinsTTTTT (p.Met1370fs)
NM_000426.4(LAMA2):c.4140T>A (p.Cys1380Ter) rs1774908660
NM_000426.4(LAMA2):c.4146T>A (p.Cys1382Ter) rs1774908820
NM_000426.4(LAMA2):c.4167_4170del (p.Ser1390fs)
NM_000426.4(LAMA2):c.4198C>T (p.Arg1400Ter) rs775112258
NM_000426.4(LAMA2):c.4232G>A (p.Gly1411Glu) rs727502850
NM_000426.4(LAMA2):c.424A>T (p.Lys142Ter) rs1775300950
NM_000426.4(LAMA2):c.4255_4258dup (p.Cys1420fs) rs2114532990
NM_000426.4(LAMA2):c.4285dup (p.Cys1429fs)
NM_000426.4(LAMA2):c.4294G>T (p.Glu1432Ter)
NM_000426.4(LAMA2):c.4319_4323del (p.Gln1440fs)
NM_000426.4(LAMA2):c.4378A>T (p.Lys1460Ter) rs1776319116
NM_000426.4(LAMA2):c.437C>A (p.Ser146Tyr) rs143680577
NM_000426.4(LAMA2):c.437C>T (p.Ser146Phe) rs143680577
NM_000426.4(LAMA2):c.4397_4398del (p.Cys1466fs)
NM_000426.4(LAMA2):c.442del (p.Arg148fs)
NM_000426.4(LAMA2):c.442dup (p.Arg148fs) rs1775302275
NM_000426.4(LAMA2):c.4436+1G>C rs376430565
NM_000426.4(LAMA2):c.4446del (p.Ser1483fs)
NM_000426.4(LAMA2):c.4459G>T (p.Glu1487Ter) rs1776730034
NM_000426.4(LAMA2):c.4468GAC[1] (p.Asp1491del) rs1554277753
NM_000426.4(LAMA2):c.4477C>T (p.Arg1493Cys) rs751053800
NM_000426.4(LAMA2):c.4504G>T (p.Glu1502Ter)
NM_000426.4(LAMA2):c.4517G>C (p.Cys1506Ser) rs1409043489
NM_000426.4(LAMA2):c.4523G>A (p.Arg1508Lys) rs770084568
NM_000426.4(LAMA2):c.4524-2A>T rs1554278541
NM_000426.4(LAMA2):c.4561G>T (p.Gly1521Ter) rs1776953529
NM_000426.4(LAMA2):c.4573C>T (p.Gln1525Ter) rs1776953853
NM_000426.4(LAMA2):c.4576G>T (p.Glu1526Ter)
NM_000426.4(LAMA2):c.4601C>A (p.Ser1534Ter) rs917205971
NM_000426.4(LAMA2):c.4630G>T (p.Gly1544Ter) rs374207670
NM_000426.4(LAMA2):c.4660_4668del (p.Gly1554_Lys1556del) rs1554278670
NM_000426.4(LAMA2):c.4682del (p.Lys1561fs) rs1246940477
NM_000426.4(LAMA2):c.4688G>A (p.Trp1563Ter) rs2114593621
NM_000426.4(LAMA2):c.4692_4695dup (p.Arg1566fs) rs774051471
NM_000426.4(LAMA2):c.4717+1G>C rs1131691660
NM_000426.4(LAMA2):c.4717+1G>T rs1131691660
NM_000426.4(LAMA2):c.4717+5G>A rs776050258
NM_000426.4(LAMA2):c.4739dup (p.Leu1581fs) rs1392196900
NM_000426.4(LAMA2):c.4743TCT[1] (p.Leu1583del) rs1554281282
NM_000426.4(LAMA2):c.4752_4753del (p.Asp1585fs)
NM_000426.4(LAMA2):c.476ATG[1] (p.Asp160del) rs1192484658
NM_000426.4(LAMA2):c.4819_4825del (p.Lys1607fs)
NM_000426.4(LAMA2):c.4837G>T (p.Glu1613Ter) rs1247084547
NM_000426.4(LAMA2):c.4861-2A>G rs2114627220
NM_000426.4(LAMA2):c.4861del (p.His1621fs)
NM_000426.4(LAMA2):c.4874C>T (p.Pro1625Leu)
NM_000426.4(LAMA2):c.4878del (p.Gln1626fs)
NM_000426.4(LAMA2):c.4886dup (p.Glu1630fs)
NM_000426.4(LAMA2):c.4913delinsAATAAAGAGAGACAGCA (p.Gly1638delinsGluTer)
NM_000426.4(LAMA2):c.4936G>T (p.Glu1646Ter) rs748541803
NM_000426.4(LAMA2):c.4945G>C (p.Glu1649Gln) rs143215851
NM_000426.4(LAMA2):c.4959+1del rs1583591577
NM_000426.4(LAMA2):c.498G>A (p.Trp166Ter) rs553221833
NM_000426.4(LAMA2):c.4993G>T (p.Gly1665Ter) rs373997222
NM_000426.4(LAMA2):c.4996C>T (p.Gln1666Ter) rs2114654019
NM_000426.4(LAMA2):c.5038G>T (p.Glu1680Ter) rs1778794887
NM_000426.4(LAMA2):c.504T>A (p.Tyr168Ter) rs1008335405
NM_000426.4(LAMA2):c.5050G>T (p.Glu1684Ter) rs201632009
NM_000426.4(LAMA2):c.5062del (p.Asp1688fs)
NM_000426.4(LAMA2):c.507_508insCAAGAGA (p.Ala170fs)
NM_000426.4(LAMA2):c.5085dup (p.Ala1696fs) rs1351661862
NM_000426.4(LAMA2):c.5092A>T (p.Lys1698Ter) rs1779318396
NM_000426.4(LAMA2):c.512_513del (p.Val171fs)
NM_000426.4(LAMA2):c.5155A>T (p.Lys1719Ter) rs1779323338
NM_000426.4(LAMA2):c.5156_5159del (p.Lys1719fs) rs1554286963
NM_000426.4(LAMA2):c.5169GAT[1] (p.Met1724del) rs1554286976
NM_000426.4(LAMA2):c.5181A>C (p.Glu1727Asp) rs1779325827
NM_000426.4(LAMA2):c.5184del (p.Arg1729fs)
NM_000426.4(LAMA2):c.5235-18G>A rs188365084
NM_000426.4(LAMA2):c.5235-1G>A rs1779406142
NM_000426.4(LAMA2):c.5259del (p.Lys1753_Val1754insTer) rs1211739649
NM_000426.4(LAMA2):c.5266A>T (p.Lys1756Ter) rs2114674584
NM_000426.4(LAMA2):c.5274del (p.Phe1758fs)
NM_000426.4(LAMA2):c.5284dup (p.Arg1762fs)
NM_000426.4(LAMA2):c.5290dup (p.Glu1764fs) rs1415944134
NM_000426.4(LAMA2):c.5325dup (p.Leu1776fs) rs768458445
NM_000426.4(LAMA2):c.5342del (p.Asn1781fs)
NM_000426.4(LAMA2):c.5374G>T (p.Glu1792Ter) rs746201268
NM_000426.4(LAMA2):c.5443G>C (p.Glu1815Gln) rs1554287445
NM_000426.4(LAMA2):c.5445+1G>A rs1779423047
NM_000426.4(LAMA2):c.5449AAG[1] (p.Lys1818del) rs1225610123
NM_000426.4(LAMA2):c.5460del (p.Val1821fs) rs1562530132
NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser) rs56173620
NM_000426.4(LAMA2):c.5563-1G>A
NM_000426.4(LAMA2):c.5563-2A>G rs786204779
NM_000426.4(LAMA2):c.5568_5569delinsA (p.Glu1857fs)
NM_000426.4(LAMA2):c.5578C>T (p.Gln1860Ter) rs1165626901
NM_000426.4(LAMA2):c.5598G>T (p.Met1866Ile) rs1554289926
NM_000426.4(LAMA2):c.5665_5667del (p.Lys1889del) rs767066183
NM_000426.4(LAMA2):c.5673_5674del (p.Gln1892fs)
NM_000426.4(LAMA2):c.5674C>T (p.Gln1892Ter) rs1462522184
NM_000426.4(LAMA2):c.569C>A (p.Ser190Ter) rs1775311864
NM_000426.4(LAMA2):c.5836A>T (p.Lys1946Ter)
NM_000426.4(LAMA2):c.5851G>T (p.Glu1951Ter)
NM_000426.4(LAMA2):c.5865+2T>G rs1554290316
NM_000426.4(LAMA2):c.5866-1G>A rs1064797040
NM_000426.4(LAMA2):c.5866-2A>G rs1554295204
NM_000426.4(LAMA2):c.5913_5914del (p.Gln1972fs)
NM_000426.4(LAMA2):c.5944A>T (p.Lys1982Ter) rs1781398399
NM_000426.4(LAMA2):c.5954_5962dup (p.Ala1985_Asp1987dup) rs1554295259
NM_000426.4(LAMA2):c.595T>A (p.Cys199Ser) rs886043693
NM_000426.4(LAMA2):c.602C>A (p.Ser201Ter) rs1775313883
NM_000426.4(LAMA2):c.6030_6031del (p.Asp2011fs)
NM_000426.4(LAMA2):c.6103C>T (p.Gln2035Ter)
NM_000426.4(LAMA2):c.611C>A (p.Ser204Tyr) rs1204310516
NM_000426.4(LAMA2):c.6146_6147del (p.Lys2049fs)
NM_000426.4(LAMA2):c.6147del (p.Asp2050fs)
NM_000426.4(LAMA2):c.6195GAA[2] (p.Lys2067del) rs758495000
NM_000426.4(LAMA2):c.6196A>T (p.Lys2066Ter) rs1583756552
NM_000426.4(LAMA2):c.61C>T (p.Gln21Ter) rs886061039
NM_000426.4(LAMA2):c.6232A>T (p.Lys2078Ter)
NM_000426.4(LAMA2):c.6248_6249del (p.Val2083fs)
NM_000426.4(LAMA2):c.6260C>A (p.Ser2087Tyr) rs1299914386
NM_000426.4(LAMA2):c.6262A>T (p.Lys2088Ter) rs1782086229
NM_000426.4(LAMA2):c.6269-831C>T rs371162111
NM_000426.4(LAMA2):c.6269-845C>T rs1554297888
NM_000426.4(LAMA2):c.6269-848T>A rs1554297884
NM_000426.4(LAMA2):c.6269-848T>C rs1554297884
NM_000426.4(LAMA2):c.6269-849C>T rs1554297881
NM_000426.4(LAMA2):c.6269-852A>C rs766496312
NM_000426.4(LAMA2):c.6269-855A>C rs1554297879
NM_000426.4(LAMA2):c.6269-855A>G rs1554297879
NM_000426.4(LAMA2):c.6305T>G (p.Leu2102Ter) rs1782333085
NM_000426.4(LAMA2):c.637G>T (p.Glu213Ter) rs1775315900
NM_000426.4(LAMA2):c.640-6127A>G
NM_000426.4(LAMA2):c.6429+1G>C rs1262029350
NM_000426.4(LAMA2):c.6449C>A (p.Ser2150Ter) rs1782761474
NM_000426.4(LAMA2):c.6466C>T (p.Arg2156Ter) rs922640025
NM_000426.4(LAMA2):c.6488del (p.Lys2163fs) rs886039482
NM_000426.4(LAMA2):c.6510TGT[1] (p.Val2172del) rs1363017615
NM_000426.4(LAMA2):c.6551T>C (p.Phe2184Ser) rs398123381
NM_000426.4(LAMA2):c.6560del (p.Gly2187fs)
NM_000426.4(LAMA2):c.6573+1G>A rs757435241
NM_000426.4(LAMA2):c.6573+1G>T rs757435241
NM_000426.4(LAMA2):c.6623G>A (p.Trp2208Ter)
NM_000426.4(LAMA2):c.6636_6637del (p.Gly2213fs)
NM_000426.4(LAMA2):c.6643G>T (p.Gly2215Ter)
NM_000426.4(LAMA2):c.6687G>A (p.Trp2229Ter)
NM_000426.4(LAMA2):c.6690C>A (p.Tyr2230Ter) rs1583790201
NM_000426.4(LAMA2):c.6714_6722del (p.Arg2239_Gly2241del) rs2114794775
NM_000426.4(LAMA2):c.6752C>A (p.Pro2251His) rs546395293
NM_000426.4(LAMA2):c.6919_6920del (p.Tyr2307fs) rs757404275
NM_000426.4(LAMA2):c.691G>T (p.Glu231Ter) rs1778273068
NM_000426.4(LAMA2):c.6948G>A (p.Trp2316Ter)
NM_000426.4(LAMA2):c.6992+5G>A rs1221715098
NM_000426.4(LAMA2):c.7003del (p.Glu2335fs)
NM_000426.4(LAMA2):c.7126_7127insA (p.Leu2376fs)
NM_000426.4(LAMA2):c.7142delinsGT (p.Ala2381fs)
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter) rs121913576
NM_000426.4(LAMA2):c.7215_7217delinsA (p.Ser2406fs)
NM_000426.4(LAMA2):c.7266G>A (p.Trp2422Ter) rs1783482812
NM_000426.4(LAMA2):c.7279_7280del (p.Leu2427fs) rs398123385
NM_000426.4(LAMA2):c.7280_7283del (p.Leu2427fs)
NM_000426.4(LAMA2):c.7286_7288del (p.Arg2429del) rs1350705904
NM_000426.4(LAMA2):c.728T>C (p.Leu243Pro) rs1562273395
NM_000426.4(LAMA2):c.7296del (p.Lys2432fs)
NM_000426.4(LAMA2):c.7301-1G>A
NM_000426.4(LAMA2):c.731_732del (p.Arg244fs)
NM_000426.4(LAMA2):c.7339G>T (p.Glu2447Ter) rs1377818460
NM_000426.4(LAMA2):c.7374del (p.Phe2458fs)
NM_000426.4(LAMA2):c.7390_7391delinsTT (p.Ala2464Leu) rs1554303509
NM_000426.4(LAMA2):c.7444A>T (p.Lys2482Ter) rs1554303937
NM_000426.4(LAMA2):c.7452-16T>G
NM_000426.4(LAMA2):c.7452-1G>A rs1554304931
NM_000426.4(LAMA2):c.7473A>G (p.Lys2491=) rs886038295
NM_000426.4(LAMA2):c.7489A>T (p.Lys2497Ter)
NM_000426.4(LAMA2):c.7490_7493dup (p.Asp2498fs) rs1480934961
NM_000426.4(LAMA2):c.7578_7579del (p.Tyr2527fs)
NM_000426.4(LAMA2):c.7583_7584del (p.Thr2528fs)
NM_000426.4(LAMA2):c.7621_7622insTA (p.Pro2541fs)
NM_000426.4(LAMA2):c.7630del (p.Ile2544fs) rs1784335277
NM_000426.4(LAMA2):c.7658C>A (p.Ser2553Ter)
NM_000426.4(LAMA2):c.7675G>T (p.Glu2559Ter)
NM_000426.4(LAMA2):c.7692_7693insA (p.Leu2565fs)
NM_000426.4(LAMA2):c.7700G>C (p.Ser2567Thr) rs1554305929
NM_000426.4(LAMA2):c.7749+1G>C
NM_000426.4(LAMA2):c.7750-1713_7899-2153del
NM_000426.4(LAMA2):c.7750-2A>G rs778539477
NM_000426.4(LAMA2):c.7771_7772delinsT (p.Asn2591fs)
NM_000426.4(LAMA2):c.7778del (p.Gly2593fs) rs2114848887
NM_000426.4(LAMA2):c.77AGC[4] (p.Gln28dup) rs1554312698
NM_000426.4(LAMA2):c.77AGC[5] (p.Gln27_Gln28dup) rs1554312698
NM_000426.4(LAMA2):c.7810C>T (p.Arg2604Ter) rs766920075
NM_000426.4(LAMA2):c.781A>T (p.Lys261Ter) rs781316719
NM_000426.4(LAMA2):c.7834A>T (p.Arg2612Ter)
NM_000426.4(LAMA2):c.7870_7871dup (p.Ser2625fs) rs2114849148
NM_000426.4(LAMA2):c.7881T>G (p.His2627Gln) rs202247792
NM_000426.4(LAMA2):c.7888C>T (p.Arg2630Ter) rs727502851
NM_000426.4(LAMA2):c.7898+1G>A rs1784599832
NM_000426.4(LAMA2):c.7899-1G>C
NM_000426.4(LAMA2):c.790A>T (p.Arg264Ter) rs1778283565
NM_000426.4(LAMA2):c.7912C>T (p.Gln2638Ter) rs1784882494
NM_000426.4(LAMA2):c.7933_7941del (p.Tyr2645_Gln2647del) rs762065775
NM_000426.4(LAMA2):c.7976del (p.Lys2659fs)
NM_000426.4(LAMA2):c.7991del (p.Gly2664fs) rs886039541
NM_000426.4(LAMA2):c.8008C>T (p.Gln2670Ter) rs1784888496
NM_000426.4(LAMA2):c.8075+1G>A rs1055407857
NM_000426.4(LAMA2):c.8075+2dup rs2114859967
NM_000426.4(LAMA2):c.8076-1G>A rs1554310169
NM_000426.4(LAMA2):c.8079dup (p.Met2694fs)
NM_000426.4(LAMA2):c.8096del (p.Pro2699fs) rs1784912657
NM_000426.4(LAMA2):c.8155G>T (p.Glu2719Ter) rs1289855948
NM_000426.4(LAMA2):c.8169_8173del (p.Ala2723_Pro2724insTer) rs1554310242
NM_000426.4(LAMA2):c.817A>T (p.Arg273Ter) rs886043648
NM_000426.4(LAMA2):c.8188C>T (p.Gln2730Ter) rs1784919273
NM_000426.4(LAMA2):c.819+1G>A rs1554226186
NM_000426.4(LAMA2):c.819+2dup rs765817742
NM_000426.4(LAMA2):c.820-1G>A rs1370654793
NM_000426.4(LAMA2):c.8206_8209del (p.Thr2736fs)
NM_000426.4(LAMA2):c.8244+2dup rs1554310330
NM_000426.4(LAMA2):c.8244+3_8244+6del rs746678525
NM_000426.4(LAMA2):c.8245-2A>G rs914395925
NM_000426.4(LAMA2):c.8256del (p.Ala2753fs)
NM_000426.4(LAMA2):c.825del (p.Tyr276fs) rs1562275792
NM_000426.4(LAMA2):c.8265del (p.Glu2756fs)
NM_000426.4(LAMA2):c.828C>G (p.Tyr276Ter) rs1028599119
NM_000426.4(LAMA2):c.8377_8383del (p.Val2793fs)
NM_000426.4(LAMA2):c.8380_8383del (p.Arg2794fs) rs2114890786
NM_000426.4(LAMA2):c.8430_8431insAG (p.Ala2811fs)
NM_000426.4(LAMA2):c.8484C>G (p.Asp2828Glu) rs1785788819
NM_000426.4(LAMA2):c.8540G>A (p.Trp2847Ter)
NM_000426.4(LAMA2):c.8542del (p.His2848fs)
NM_000426.4(LAMA2):c.8548-2A>G rs369224209
NM_000426.4(LAMA2):c.8556_8558del (p.Ile2852del) rs398123389
NM_000426.4(LAMA2):c.8591A>T (p.Asp2864Val) rs778258870
NM_000426.4(LAMA2):c.8597_8598insAA (p.Ser2867fs)
NM_000426.4(LAMA2):c.8603dup (p.Asn2868fs)
NM_000426.4(LAMA2):c.8613dup (p.Ser2872fs) rs2114900655
NM_000426.4(LAMA2):c.861C>A (p.Cys287Ter)
NM_000426.4(LAMA2):c.8625dup (p.Ala2876fs)
NM_000426.4(LAMA2):c.8654T>C (p.Leu2885Pro) rs1554316199
NM_000426.4(LAMA2):c.8665G>A (p.Gly2889Arg) rs886039896
NM_000426.4(LAMA2):c.8710_8712dup (p.Tyr2904dup) rs1554317110
NM_000426.4(LAMA2):c.8712T>A (p.Tyr2904Ter)
NM_000426.4(LAMA2):c.8714_8715insGTGACG (p.Ser2905delinsArgTer) rs2114910650
NM_000426.4(LAMA2):c.8716_8717insCCA (p.Ser2905_Ile2906insThr) rs1554317120
NM_000426.4(LAMA2):c.872G>C (p.Gly291Ala) rs1554226736
NM_000426.4(LAMA2):c.872del (p.Gly291fs) rs1222620175
NM_000426.4(LAMA2):c.8768AAC[1] (p.Gln2924del) rs1554317173
NM_000426.4(LAMA2):c.8770C>T (p.Gln2924Ter) rs1034133545
NM_000426.4(LAMA2):c.8781del (p.Ser2928fs)
NM_000426.4(LAMA2):c.8787_8793del (p.Phe2929fs)
NM_000426.4(LAMA2):c.8849_8857+1del
NM_000426.4(LAMA2):c.8858-1G>A rs1554319117
NM_000426.4(LAMA2):c.8876G>C (p.Gly2959Ala) rs1393350402
NM_000426.4(LAMA2):c.8953dup (p.Met2985fs)
NM_000426.4(LAMA2):c.8958_8961del (p.Asp2986fs)
NM_000426.4(LAMA2):c.8979_8982dup (p.Glu2995Ter)
NM_000426.4(LAMA2):c.8989-15T>G rs372370665
NM_000426.4(LAMA2):c.8992_8994dup (p.Met2998dup) rs1437850233
NM_000426.4(LAMA2):c.908dup (p.Asn303fs) rs2114964219
NM_000426.4(LAMA2):c.9095dup (p.Ile3033fs) rs1554320205
NM_000426.4(LAMA2):c.9128G>A (p.Gly3043Glu) rs762958440
NM_000426.4(LAMA2):c.917G>A (p.Arg306His) rs1023922833
NM_000426.4(LAMA2):c.9211+1G>A rs1554320318
NM_000426.4(LAMA2):c.9212-2A>G rs1554321125
NM_000426.4(LAMA2):c.9221del (p.Lys3074fs)
NM_000426.4(LAMA2):c.9223C>T (p.Gln3075Ter) rs771012835
NM_000426.4(LAMA2):c.9227_9243dup (p.Ile3082delinsLeuAlaTer)
NM_000426.4(LAMA2):c.9253C>T (p.Arg3085Ter) rs121913571
NM_000426.4(LAMA2):c.9266_9283dup (p.Arg3089_Thr3094dup) rs1554321180
NM_000426.4(LAMA2):c.938_939del (p.Thr313fs) rs2114967814
NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs) rs1554227092
NM_000426.4(LAMA2):c.966T>A (p.Cys322Ter)
NM_000426.4(LAMA2):c.987del (p.Trp330fs)
NM_000426.4:c.(6992+1_6993-1)_(7300+1_7301-1)del
NM_000540.3(RYR1):c.1186G>A (p.Glu396Lys) rs774919231
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.14713C>A (p.Pro4905Thr) rs1057518924
NM_001077365.2(POMT1):c.*285A>G rs4740259
NM_001077365.2(POMT1):c.*330G>A rs556148765
NM_001077365.2(POMT1):c.*370C>G rs1950358020
NM_001077365.2(POMT1):c.*381G>A rs57955153
NM_001077365.2(POMT1):c.-83C>T rs550740786
NM_001077365.2(POMT1):c.1000C>T (p.Arg334Ter)
NM_001077365.2(POMT1):c.101_102insTA (p.Tyr36fs)
NM_001077365.2(POMT1):c.1020A>G (p.Gln340=)
NM_001077365.2(POMT1):c.1029C>A (p.Thr343=)
NM_001077365.2(POMT1):c.1029C>T (p.Thr343=)
NM_001077365.2(POMT1):c.1031G>A (p.Cys344Tyr)
NM_001077365.2(POMT1):c.1038del (p.Phe347fs)
NM_001077365.2(POMT1):c.103dup (p.Thr35fs)
NM_001077365.2(POMT1):c.1044A>G (p.Lys348=)
NM_001077365.2(POMT1):c.105C>A (p.Thr35=)
NM_001077365.2(POMT1):c.1061G>A (p.Trp354Ter)
NM_001077365.2(POMT1):c.1076C>T (p.Pro359Leu) rs1292313849
NM_001077365.2(POMT1):c.1078A>C (p.Arg360=)
NM_001077365.2(POMT1):c.1082+11G>C
NM_001077365.2(POMT1):c.1082+14_1082+33del
NM_001077365.2(POMT1):c.1082+18G>C
NM_001077365.2(POMT1):c.1082+19A>T rs1454823245
NM_001077365.2(POMT1):c.1082+9A>G
NM_001077365.2(POMT1):c.1083-11G>A
NM_001077365.2(POMT1):c.1083-20G>A
NM_001077365.2(POMT1):c.1083-7C>G rs1428085460
NM_001077365.2(POMT1):c.1083-9_1083-8del rs781619064
NM_001077365.2(POMT1):c.1086C>T (p.His362=)
NM_001077365.2(POMT1):c.1091del (p.Leu364fs) rs1947522752
NM_001077365.2(POMT1):c.1092G>A (p.Leu364=)
NM_001077365.2(POMT1):c.1093_1094insGGAGCACGGTGTGGAACGTGGG (p.Val365fs) rs2131707009
NM_001077365.2(POMT1):c.1100G>T (p.Ser367Ile)
NM_001077365.2(POMT1):c.1105C>T (p.Pro369Ser) rs2131707245
NM_001077365.2(POMT1):c.1110G>A (p.Pro370=)
NM_001077365.2(POMT1):c.1110G>T (p.Pro370=) rs766759606
NM_001077365.2(POMT1):c.111G>A (p.Pro37=) rs761641734
NM_001077365.2(POMT1):c.111G>T (p.Pro37=)
NM_001077365.2(POMT1):c.1125C>G (p.His375Gln) rs35242383
NM_001077365.2(POMT1):c.1128G>A (p.Gly376=)
NM_001077365.2(POMT1):c.1136_1137dup (p.Gln380fs)
NM_001077365.2(POMT1):c.1145del (p.Val382fs)
NM_001077365.2(POMT1):c.1146C>T (p.Val382=) rs757429050
NM_001077365.2(POMT1):c.1152C>T (p.Gly384=)
NM_001077365.2(POMT1):c.1162C>T (p.Arg388Cys) rs748087053
NM_001077365.2(POMT1):c.116C>A (p.Ala39Asp) rs2131555907
NM_001077365.2(POMT1):c.116C>G (p.Ala39Gly)
NM_001077365.2(POMT1):c.1175+10C>T rs1292261993
NM_001077365.2(POMT1):c.1175+12C>T rs890396848
NM_001077365.2(POMT1):c.1175+14C>T
NM_001077365.2(POMT1):c.1175+14_1175+16del
NM_001077365.2(POMT1):c.1175+16G>C
NM_001077365.2(POMT1):c.1175+18C>A
NM_001077365.2(POMT1):c.1175+2dup rs886041907
NM_001077365.2(POMT1):c.1175+3del rs2131708682
NM_001077365.2(POMT1):c.1175+4_1175+7del rs1588409344
NM_001077365.2(POMT1):c.1175+7G>T
NM_001077365.2(POMT1):c.1176-16G>A rs199684856
NM_001077365.2(POMT1):c.1176-16G>C rs199684856
NM_001077365.2(POMT1):c.1176-17C>G
NM_001077365.2(POMT1):c.1176-19C>G
NM_001077365.2(POMT1):c.1176G>C (p.Thr392=) rs1588427953
NM_001077365.2(POMT1):c.1181A>G (p.Asp394Gly) rs2131748341
NM_001077365.2(POMT1):c.1182dup (p.Val395fs)
NM_001077365.2(POMT1):c.1190C>A (p.Ala397Asp) rs1564364465
NM_001077365.2(POMT1):c.1194C>A (p.Pro398=) rs371653610
NM_001077365.2(POMT1):c.1194C>G (p.Pro398=) rs371653610
NM_001077365.2(POMT1):c.1194C>T (p.Pro398=)
NM_001077365.2(POMT1):c.1194_1196del (p.Leu399del) rs587777818
NM_001077365.2(POMT1):c.1195C>T (p.Leu399=)
NM_001077365.2(POMT1):c.1195dup (p.Leu399fs)
NM_001077365.2(POMT1):c.1197G>A (p.Leu399=) rs764535220
NM_001077365.2(POMT1):c.1197G>C (p.Leu399=) rs764535220
NM_001077365.2(POMT1):c.1200C>T (p.Ser400=) rs886043851
NM_001077365.2(POMT1):c.1202C>T (p.Pro401Leu)
NM_001077365.2(POMT1):c.1203C>T (p.Pro401=)
NM_001077365.2(POMT1):c.1204dup (p.His402fs) rs2131749139
NM_001077365.2(POMT1):c.1206T>C (p.His402=)
NM_001077365.2(POMT1):c.120G>A (p.Val40=)
NM_001077365.2(POMT1):c.1210C>T (p.Gln404Ter) rs1554778005
NM_001077365.2(POMT1):c.1211dup (p.Glu405fs)
NM_001077365.2(POMT1):c.122+10A>G
NM_001077365.2(POMT1):c.122+13_122+20dup
NM_001077365.2(POMT1):c.122+14C>T
NM_001077365.2(POMT1):c.122+15T>C
NM_001077365.2(POMT1):c.122+5G>A rs376753193
NM_001077365.2(POMT1):c.122+7T>C
NM_001077365.2(POMT1):c.1221C>T (p.Ser407=) rs1172989588
NM_001077365.2(POMT1):c.1224C>T (p.Cys408=) rs1392371349
NM_001077365.2(POMT1):c.1226A>G (p.Tyr409Cys) rs1948104184
NM_001077365.2(POMT1):c.1229T>C (p.Ile410Thr) rs1554778053
NM_001077365.2(POMT1):c.123-11T>G
NM_001077365.2(POMT1):c.123-14G>T
NM_001077365.2(POMT1):c.123-17G>A
NM_001077365.2(POMT1):c.123-18T>G
NM_001077365.2(POMT1):c.123-18del rs1564331634
NM_001077365.2(POMT1):c.123-19T>C
NM_001077365.2(POMT1):c.123-20GTT[2] rs769392387
NM_001077365.2(POMT1):c.123-4C>T
NM_001077365.2(POMT1):c.123-5T>C
NM_001077365.2(POMT1):c.123-5del
NM_001077365.2(POMT1):c.123-5dup rs148086540
NM_001077365.2(POMT1):c.123-6_123-5dup rs148086540
NM_001077365.2(POMT1):c.123-7T>C
NM_001077365.2(POMT1):c.1235dup (p.Tyr412Ter)
NM_001077365.2(POMT1):c.1248G>T (p.Met416Ile)
NM_001077365.2(POMT1):c.1249C>T (p.Pro417Ser) rs1948110753
NM_001077365.2(POMT1):c.1251C>A (p.Pro417=) rs376749638
NM_001077365.2(POMT1):c.1252G>T (p.Ala418Ser) rs142057517
NM_001077365.2(POMT1):c.1256_1257insACA (p.Gln419dup) rs773942978
NM_001077365.2(POMT1):c.1263C>T (p.Leu421=)
NM_001077365.2(POMT1):c.1272+10G>A
NM_001077365.2(POMT1):c.1272+11C>A
NM_001077365.2(POMT1):c.1272+14C>A
NM_001077365.2(POMT1):c.1272+14C>T rs775878866
NM_001077365.2(POMT1):c.1272+15G>A
NM_001077365.2(POMT1):c.1272+1G>A rs2131751359
NM_001077365.2(POMT1):c.1272+2T>C rs1564365317
NM_001077365.2(POMT1):c.1272+2dup
NM_001077365.2(POMT1):c.1272+7A>G
NM_001077365.2(POMT1):c.1272+8A>G rs1948118898
NM_001077365.2(POMT1):c.1272G>T (p.Leu424=)
NM_001077365.2(POMT1):c.1273-10del rs2131847588
NM_001077365.2(POMT1):c.1273-11del
NM_001077365.2(POMT1):c.1273-15G>A
NM_001077365.2(POMT1):c.1273-17G>C
NM_001077365.2(POMT1):c.1273-18T>C
NM_001077365.2(POMT1):c.1273-2A>G
NM_001077365.2(POMT1):c.1273-9T>C
NM_001077365.2(POMT1):c.1284_1285del (p.Asn428fs)
NM_001077365.2(POMT1):c.1293T>C (p.Ser431=)
NM_001077365.2(POMT1):c.1296C>T (p.Asp432=)
NM_001077365.2(POMT1):c.1298_1299del (p.Thr433fs)
NM_001077365.2(POMT1):c.1311G>A (p.Lys437=) rs1949210371
NM_001077365.2(POMT1):c.1318C>T (p.Leu440Phe)
NM_001077365.2(POMT1):c.1323A>C (p.Ser441=) rs753403833
NM_001077365.2(POMT1):c.1326G>A (p.Glu442=) rs764970702
NM_001077365.2(POMT1):c.1335T>G (p.Phe445Leu) rs2131848570
NM_001077365.2(POMT1):c.1344G>A (p.Val448=)
NM_001077365.2(POMT1):c.1346A>G (p.Asn449Ser)
NM_001077365.2(POMT1):c.1347C>T (p.Asn449=)
NM_001077365.2(POMT1):c.1348A>T (p.Thr450Ser) rs2131848872
NM_001077365.2(POMT1):c.1349C>A (p.Thr450Asn) rs757785909
NM_001077365.2(POMT1):c.1352C>T (p.Ser451Phe) rs890463115
NM_001077365.2(POMT1):c.1353C>T (p.Ser451=)
NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter) rs1554780670
NM_001077365.2(POMT1):c.1364del (p.Lys455fs) rs1472946513
NM_001077365.2(POMT1):c.1365+11T>C
NM_001077365.2(POMT1):c.1365+14C>T
NM_001077365.2(POMT1):c.1365+16G>A
NM_001077365.2(POMT1):c.1365+9A>G rs2131849509
NM_001077365.2(POMT1):c.1366-12_1366-11dup
NM_001077365.2(POMT1):c.1366-20C>T
NM_001077365.2(POMT1):c.1371C>G (p.Ser457Arg) rs746412899
NM_001077365.2(POMT1):c.1380C>T (p.His460=)
NM_001077365.2(POMT1):c.1384C>T (p.Pro462Ser) rs1347678628
NM_001077365.2(POMT1):c.138T>C (p.Tyr46=)
NM_001077365.2(POMT1):c.1390T>C (p.Trp464Arg)
NM_001077365.2(POMT1):c.1390T>G (p.Trp464Gly) rs376126988
NM_001077365.2(POMT1):c.1392G>C (p.Trp464Cys)
NM_001077365.2(POMT1):c.1399C>T (p.Arg467Trp) rs770668718
NM_001077365.2(POMT1):c.139T>G (p.Tyr47Asp) rs1945758260
NM_001077365.2(POMT1):c.1413C>A (p.Ile471=) rs769288290
NM_001077365.2(POMT1):c.1413C>T (p.Ile471=)
NM_001077365.2(POMT1):c.1417G>C (p.Gly473Arg) rs376882399
NM_001077365.2(POMT1):c.1419G>A (p.Gly473=)
NM_001077365.2(POMT1):c.1426C>G (p.Leu476Val) rs1949310812
NM_001077365.2(POMT1):c.1436G>C (p.Gly479Ala) rs1949313840
NM_001077365.2(POMT1):c.1436del (p.Gly479fs)
NM_001077365.2(POMT1):c.1441C>A (p.His481Asn)
NM_001077365.2(POMT1):c.1457G>A (p.Trp486Ter) rs1191391104
NM_001077365.2(POMT1):c.1458G>A (p.Trp486Ter)
NM_001077365.2(POMT1):c.145del (p.Gln49fs)
NM_001077365.2(POMT1):c.1465GAG[1] (p.Glu490del) rs1949322859
NM_001077365.2(POMT1):c.1469A>C (p.Glu490Ala) rs2131857011
NM_001077365.2(POMT1):c.1470G>A (p.Glu490=)
NM_001077365.2(POMT1):c.1473C>T (p.His491=) rs770742841
NM_001077365.2(POMT1):c.1474C>A (p.Arg492=)
NM_001077365.2(POMT1):c.1477_1486del (p.Tyr493fs)
NM_001077365.2(POMT1):c.1478dup (p.Tyr493Ter) rs727502854
NM_001077365.2(POMT1):c.1482C>T (p.Gly494=)
NM_001077365.2(POMT1):c.1484C>A (p.Ala495Glu) rs761439623
NM_001077365.2(POMT1):c.1486+11G>T rs755682718
NM_001077365.2(POMT1):c.1486+12G>C
NM_001077365.2(POMT1):c.1486+13C>T
NM_001077365.2(POMT1):c.1486+18C>T
NM_001077365.2(POMT1):c.1486+20T>G
NM_001077365.2(POMT1):c.1486+8C>T
NM_001077365.2(POMT1):c.1486+9G>T
NM_001077365.2(POMT1):c.1487-10G>A
NM_001077365.2(POMT1):c.1487-18C>T
NM_001077365.2(POMT1):c.1497G>A (p.Gln499=)
NM_001077365.2(POMT1):c.1503_1508dup (p.500_501RE[4]) rs727502853
NM_001077365.2(POMT1):c.1507G>A (p.Glu503Lys) rs2131866665
NM_001077365.2(POMT1):c.1510C>A (p.Arg504=)
NM_001077365.2(POMT1):c.151A>T (p.Ile51Phe) rs886044651
NM_001077365.2(POMT1):c.1521C>G (p.His507Gln)
NM_001077365.2(POMT1):c.1524dup (p.Pro509fs)
NM_001077365.2(POMT1):c.1525C>G (p.Pro509Ala) rs140398617
NM_001077365.2(POMT1):c.1530G>A (p.Ala510=)
NM_001077365.2(POMT1):c.1535T>A (p.Val512Glu)
NM_001077365.2(POMT1):c.1536G>A (p.Val512=) rs1949458706
NM_001077365.2(POMT1):c.1538A>C (p.Asp513Ala)
NM_001077365.2(POMT1):c.1539C>T (p.Asp513=)
NM_001077365.2(POMT1):c.1540G>A (p.Val514Ile) rs984288781
NM_001077365.2(POMT1):c.154T>C (p.Ser52Pro) rs1554771665
NM_001077365.2(POMT1):c.1550del (p.Asn517fs)
NM_001077365.2(POMT1):c.1551C>T (p.Asn517=)
NM_001077365.2(POMT1):c.1555A>G (p.Ser519Gly) rs1564381465
NM_001077365.2(POMT1):c.1560C>T (p.Phe520=) rs1588476051
NM_001077365.2(POMT1):c.1566G>A (p.Ala522=)
NM_001077365.2(POMT1):c.1570T>A (p.Phe524Ile)
NM_001077365.2(POMT1):c.1576G>A (p.Glu526Lys) rs1949475355
NM_001077365.2(POMT1):c.1581G>A (p.Leu527=) rs1378023866
NM_001077365.2(POMT1):c.1584+13C>T rs2131869164
NM_001077365.2(POMT1):c.1584+14A>G
NM_001077365.2(POMT1):c.1584+14del
NM_001077365.2(POMT1):c.1584+16G>T
NM_001077365.2(POMT1):c.1584+18G>A
NM_001077365.2(POMT1):c.1584+18dup
NM_001077365.2(POMT1):c.1584+20A>G
NM_001077365.2(POMT1):c.1585-16C>T
NM_001077365.2(POMT1):c.1585-16CT[3]
NM_001077365.2(POMT1):c.1585-18G>C
NM_001077365.2(POMT1):c.1585-19G>A
NM_001077365.2(POMT1):c.1585-20A>C
NM_001077365.2(POMT1):c.1585-2A>G rs2131880195
NM_001077365.2(POMT1):c.1585T>C (p.Trp529Arg) rs1949610411
NM_001077365.2(POMT1):c.1599G>A (p.Ala533=)
NM_001077365.2(POMT1):c.1602G>C (p.Leu534=)
NM_001077365.2(POMT1):c.1605A>G (p.Arg535=)
NM_001077365.2(POMT1):c.1608T>G (p.Ser536Arg) rs1588482215
NM_001077365.2(POMT1):c.160_161insTTTTTTTTTTTTTTTNNNNNNNNNNTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGTACATCTCTTTTT (p.Tyr54delinsPhePhePhePhePheXaaXaaXaaXaaHisArgPheSerArgAspGlyLeuAspLeuLeuThrSerTer) rs2131588122
NM_001077365.2(POMT1):c.1611T>C (p.Asp537=)
NM_001077365.2(POMT1):c.1629C>T (p.Tyr543=)
NM_001077365.2(POMT1):c.162C>A (p.Tyr54Ter)
NM_001077365.2(POMT1):c.162C>T (p.Tyr54=)
NM_001077365.2(POMT1):c.1634C>G (p.Ser545Cys)
NM_001077365.2(POMT1):c.1637G>A (p.Ser546Asn)
NM_001077365.2(POMT1):c.1637G>C (p.Ser546Thr) rs1949619639
NM_001077365.2(POMT1):c.1638C>G (p.Ser546Arg) rs2131881044
NM_001077365.2(POMT1):c.1641A>C (p.Pro547=) rs932156935
NM_001077365.2(POMT1):c.1644G>A (p.Leu548=) rs2131881178
NM_001077365.2(POMT1):c.1647G>A (p.Glu549=) rs757830349
NM_001077365.2(POMT1):c.1657del (p.Leu553fs) rs794727190
NM_001077365.2(POMT1):c.1658T>C (p.Leu553Pro) rs777490066
NM_001077365.2(POMT1):c.1664C>T (p.Thr555Ile)
NM_001077365.2(POMT1):c.1667A>G (p.Asn556Ser)
NM_001077365.2(POMT1):c.1667del (p.Asn556fs)
NM_001077365.2(POMT1):c.1671del (p.Ile557fs) rs1949626483
NM_001077365.2(POMT1):c.1672G>T (p.Ala558Ser)
NM_001077365.2(POMT1):c.1680G>C (p.Trp560Cys) rs119462984
NM_001077365.2(POMT1):c.1683G>A (p.Leu561=)
NM_001077365.2(POMT1):c.168A>G (p.Lys56=)
NM_001077365.2(POMT1):c.1695C>A (p.Thr565=)
NM_001077365.2(POMT1):c.1698+10C>T
NM_001077365.2(POMT1):c.1698+11G>A
NM_001077365.2(POMT1):c.1698+11G>C rs115243626
NM_001077365.2(POMT1):c.1698+17G>A
NM_001077365.2(POMT1):c.1698+2dup
NM_001077365.2(POMT1):c.1698+7G>T
NM_001077365.2(POMT1):c.1699-10del
NM_001077365.2(POMT1):c.1699-11T>C
NM_001077365.2(POMT1):c.1699-11T>G
NM_001077365.2(POMT1):c.1699-12A>G
NM_001077365.2(POMT1):c.1699-1G>A rs1949874222
NM_001077365.2(POMT1):c.1699-20C>G
NM_001077365.2(POMT1):c.1699-20C>T
NM_001077365.2(POMT1):c.1699-7C>T rs764871902
NM_001077365.2(POMT1):c.169C>T (p.Gln57Ter) rs1945766589
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His) rs119462986
NM_001077365.2(POMT1):c.1705A>C (p.Ile569Leu) rs1588493803
NM_001077365.2(POMT1):c.1715T>G (p.Leu572Arg)
NM_001077365.2(POMT1):c.171A>G (p.Gln57=)
NM_001077365.2(POMT1):c.1724_1725del (p.Ile575fs)
NM_001077365.2(POMT1):c.1731C>A (p.Ile577=)
NM_001077365.2(POMT1):c.1733G>A (p.Trp578Ter)
NM_001077365.2(POMT1):c.1735G>C (p.Val579Leu) rs1588494128
NM_001077365.2(POMT1):c.1740G>C (p.Ser580=)
NM_001077365.2(POMT1):c.1743C>A (p.Gly581=)
NM_001077365.2(POMT1):c.1745G>C (p.Ser582Thr)
NM_001077365.2(POMT1):c.1749C>G (p.Leu583=) rs755379319
NM_001077365.2(POMT1):c.1749C>T (p.Leu583=) rs755379319
NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del) rs750195040
NM_001077365.2(POMT1):c.1758del (p.Ile587fs)
NM_001077365.2(POMT1):c.1767C>G (p.Ala589=)
NM_001077365.2(POMT1):c.1768C>G (p.Leu590Val)
NM_001077365.2(POMT1):c.1770G>A (p.Leu590=)
NM_001077365.2(POMT1):c.1778T>C (p.Leu593Ser)
NM_001077365.2(POMT1):c.1781G>A (p.Trp594Ter)
NM_001077365.2(POMT1):c.1786C>T (p.Leu596=)
NM_001077365.2(POMT1):c.178T>C (p.Phe60Leu) rs1564332130
NM_001077365.2(POMT1):c.1791C>G (p.Leu597=)
NM_001077365.2(POMT1):c.1797G>A (p.Arg599=) rs2131904951
NM_001077365.2(POMT1):c.1799G>A (p.Arg600Gln) rs753485021
NM_001077365.2(POMT1):c.1799G>T (p.Arg600Leu) rs753485021
NM_001077365.2(POMT1):c.1806T>C (p.Asn602=) rs2131905242
NM_001077365.2(POMT1):c.1821_1822dup (p.Gln608fs)
NM_001077365.2(POMT1):c.1825+11C>G
NM_001077365.2(POMT1):c.1825+12T>C
NM_001077365.2(POMT1):c.1825+18A>G
NM_001077365.2(POMT1):c.1825+22_1825+48del
NM_001077365.2(POMT1):c.1825+2T>C
NM_001077365.2(POMT1):c.1825+3_1825+16del
NM_001077365.2(POMT1):c.1825+4A>C
NM_001077365.2(POMT1):c.1825+8C>T
NM_001077365.2(POMT1):c.1825+9C>A
NM_001077365.2(POMT1):c.1826-10T>C
NM_001077365.2(POMT1):c.1826-13C>A
NM_001077365.2(POMT1):c.1826-4A>G
NM_001077365.2(POMT1):c.1826-7C>T
NM_001077365.2(POMT1):c.1826-7_1826-6delinsAA rs1064793740
NM_001077365.2(POMT1):c.1827T>C (p.Asp609=)
NM_001077365.2(POMT1):c.1830C>T (p.Ala610=)
NM_001077365.2(POMT1):c.1837_1852dup (p.Gly618fs) rs1315540509
NM_001077365.2(POMT1):c.1838G>T (p.Arg613Leu)
NM_001077365.2(POMT1):c.183G>A (p.Leu61=) rs1945769344
NM_001077365.2(POMT1):c.1842_1860dup (p.Cys621fs)
NM_001077365.2(POMT1):c.1847_1865dup (p.Gly624fs)
NM_001077365.2(POMT1):c.1848G>C (p.Leu616=) rs370443246
NM_001077365.2(POMT1):c.1857G>A (p.Ala619=)
NM_001077365.2(POMT1):c.1858C>T (p.Leu620=)
NM_001077365.2(POMT1):c.1867G>C (p.Gly623Arg)
NM_001077365.2(POMT1):c.1869T>C (p.Gly623=)
NM_001077365.2(POMT1):c.1871_1872del (p.Gly624fs)
NM_001077365.2(POMT1):c.1890C>T (p.Leu630=) rs1007091999
NM_001077365.2(POMT1):c.1907A>G (p.Glu636Gly) rs1322926242
NM_001077365.2(POMT1):c.1917_1918del (p.Phe640fs)
NM_001077365.2(POMT1):c.1921C>T (p.Leu641Phe) rs777437871
NM_001077365.2(POMT1):c.1937C>T (p.Pro646Leu) rs2131922893
NM_001077365.2(POMT1):c.1941A>G (p.Ala647=)
NM_001077365.2(POMT1):c.1951C>T (p.Gln651Ter)
NM_001077365.2(POMT1):c.195G>A (p.Gly65=)
NM_001077365.2(POMT1):c.1974C>T (p.Val658=)
NM_001077365.2(POMT1):c.1975C>T (p.Leu659=)
NM_001077365.2(POMT1):c.1977del (p.Gln660fs)
NM_001077365.2(POMT1):c.1979A>G (p.Gln660Arg) rs775109154
NM_001077365.2(POMT1):c.1983_1987del (p.His661fs)
NM_001077365.2(POMT1):c.1985T>A (p.Ile662Asn) rs2131923569
NM_001077365.2(POMT1):c.2000G>A (p.Cys667Tyr) rs1219770866
NM_001077365.2(POMT1):c.2002A>C (p.Arg668=) rs985023011
NM_001077365.2(POMT1):c.2003+12_2003+13delinsAT
NM_001077365.2(POMT1):c.2003+14G>A
NM_001077365.2(POMT1):c.2003+17G>A
NM_001077365.2(POMT1):c.2003+18A>C
NM_001077365.2(POMT1):c.2003+18A>G
NM_001077365.2(POMT1):c.2003+20A>G
NM_001077365.2(POMT1):c.2003+8G>A
NM_001077365.2(POMT1):c.2004-10A>G
NM_001077365.2(POMT1):c.2004-13C>T
NM_001077365.2(POMT1):c.2004-16G>A rs896269640
NM_001077365.2(POMT1):c.2004-18C>A
NM_001077365.2(POMT1):c.2004-18C>G
NM_001077365.2(POMT1):c.2004-20C>G rs372767898
NM_001077365.2(POMT1):c.2004-4G>A
NM_001077365.2(POMT1):c.2004-5T>G
NM_001077365.2(POMT1):c.2004-8C>T rs1950257826
NM_001077365.2(POMT1):c.2004-9C>T rs886063538
NM_001077365.2(POMT1):c.2015A>G (p.Gln672Arg)
NM_001077365.2(POMT1):c.2016G>A (p.Gln672=) rs779577551
NM_001077365.2(POMT1):c.2019G>A (p.Arg673=)
NM_001077365.2(POMT1):c.2022C>G (p.Ser674Arg)
NM_001077365.2(POMT1):c.2022C>T (p.Ser674=)
NM_001077365.2(POMT1):c.2028C>T (p.Phe676=)
NM_001077365.2(POMT1):c.2040_2050del (p.Val681fs) rs1950265792
NM_001077365.2(POMT1):c.2044dup (p.Ala682fs) rs587777817
NM_001077365.2(POMT1):c.2046C>G (p.Ala682=)
NM_001077365.2(POMT1):c.2050T>C (p.Tyr684His) rs113633543
NM_001077365.2(POMT1):c.2053T>A (p.Ser685Thr) rs1588513928
NM_001077365.2(POMT1):c.205G>A (p.Gly69Ser) rs1945776583
NM_001077365.2(POMT1):c.2067C>A (p.His689Gln) rs141895982
NM_001077365.2(POMT1):c.2068G>T (p.Val690Leu)
NM_001077365.2(POMT1):c.2070G>A (p.Val690=) rs752855537
NM_001077365.2(POMT1):c.2082G>A (p.Leu694=)
NM_001077365.2(POMT1):c.2089C>T (p.Leu697Phe)
NM_001077365.2(POMT1):c.2090T>A (p.Leu697His) rs753872714
NM_001077365.2(POMT1):c.2093C>T (p.Thr698Ile)
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter) rs138902646
NM_001077365.2(POMT1):c.2098G>T (p.Gly700Trp) rs912556508
NM_001077365.2(POMT1):c.2101G>T (p.Asp701Tyr) rs771877812
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001077365.2(POMT1):c.2103C>T (p.Asp701=)
NM_001077365.2(POMT1):c.2110C>T (p.Leu704Phe) rs2131946967
NM_001077365.2(POMT1):c.2113_2114del (p.Ser705fs) rs587777819
NM_001077365.2(POMT1):c.2113_2119del (p.Ser705fs)
NM_001077365.2(POMT1):c.2115G>C (p.Ser705=)
NM_001077365.2(POMT1):c.2118A>T (p.Pro706=)
NM_001077365.2(POMT1):c.2126T>C (p.Leu709Pro) rs776988725
NM_001077365.2(POMT1):c.2127C>A (p.Leu709=) rs2131947484
NM_001077365.2(POMT1):c.2138G>A (p.Arg713His) rs938573554
NM_001077365.2(POMT1):c.2140T>C (p.Trp714Arg)
NM_001077365.2(POMT1):c.2140del (p.Trp714fs)
NM_001077365.2(POMT1):c.2141G>A (p.Trp714Ter)
NM_001077365.2(POMT1):c.2142del (p.Arg713_Trp714insTer)
NM_001077365.2(POMT1):c.2144_2147dup (p.Asp716fs) rs750453909
NM_001077365.2(POMT1):c.2145_2156del (p.Lys715_Asp719delinsAsn) rs1564395473
NM_001077365.2(POMT1):c.2162T>G (p.Leu721Trp)
NM_001077365.2(POMT1):c.2178G>C (p.Ter726Tyr) rs147143094
NM_001077365.2(POMT1):c.221C>A (p.Ala74Asp)
NM_001077365.2(POMT1):c.225G>A (p.Leu75=)
NM_001077365.2(POMT1):c.226G>A (p.Gly76Arg) rs28941782
NM_001077365.2(POMT1):c.229+12C>G
NM_001077365.2(POMT1):c.229+12C>T
NM_001077365.2(POMT1):c.229+14G>A rs1945785020
NM_001077365.2(POMT1):c.229+2T>C rs1945782278
NM_001077365.2(POMT1):c.229+7G>T
NM_001077365.2(POMT1):c.229+8T>G
NM_001077365.2(POMT1):c.230-16T>A
NM_001077365.2(POMT1):c.230-17T>C
NM_001077365.2(POMT1):c.230-2A>G
NM_001077365.2(POMT1):c.230-9_230-8del rs2131591743
NM_001077365.2(POMT1):c.23C>T (p.Pro8Leu)
NM_001077365.2(POMT1):c.240A>G (p.Gly80=)
NM_001077365.2(POMT1):c.245del (p.Phe82fs)
NM_001077365.2(POMT1):c.249T>C (p.Asp83=)
NM_001077365.2(POMT1):c.252C>G (p.Gly84=)
NM_001077365.2(POMT1):c.260dup (p.Leu87fs)
NM_001077365.2(POMT1):c.264G>A (p.Trp88Ter) rs1945827957
NM_001077365.2(POMT1):c.26T>C (p.Val9Ala) rs1945225387
NM_001077365.2(POMT1):c.270_280delAATTGGAGCAG (p.Gly92fs) rs1222795311
NM_001077365.2(POMT1):c.273T>C (p.Ile91=)
NM_001077365.2(POMT1):c.274G>A (p.Gly92Arg) rs2131592403
NM_001077365.2(POMT1):c.280+12T>C
NM_001077365.2(POMT1):c.280+16C>A
NM_001077365.2(POMT1):c.280+16C>T
NM_001077365.2(POMT1):c.280+20T>C
NM_001077365.2(POMT1):c.280+7G>A
NM_001077365.2(POMT1):c.280+7_280+8del rs561658895
NM_001077365.2(POMT1):c.281-16G>A
NM_001077365.2(POMT1):c.281-8T>C
NM_001077365.2(POMT1):c.283T>C (p.Tyr95His)
NM_001077365.2(POMT1):c.285C>T (p.Tyr95=) rs1554772428
NM_001077365.2(POMT1):c.291del (p.Ser97fs)
NM_001077365.2(POMT1):c.295G>A (p.Val99Met) rs1449103987
NM_001077365.2(POMT1):c.314G>A (p.Arg105His) rs1554772469
NM_001077365.2(POMT1):c.330C>T (p.Leu110=) rs138064523
NM_001077365.2(POMT1):c.333G>A (p.Ala111=)
NM_001077365.2(POMT1):c.342G>T (p.Leu114Phe)
NM_001077365.2(POMT1):c.344C>T (p.Ser115Leu)
NM_001077365.2(POMT1):c.352A>G (p.Met118Val)
NM_001077365.2(POMT1):c.357C>T (p.Ala119=)
NM_001077365.2(POMT1):c.360C>T (p.Tyr120=) rs2131606375
NM_001077365.2(POMT1):c.36G>T (p.Thr12=)
NM_001077365.2(POMT1):c.385del (p.Ser129fs)
NM_001077365.2(POMT1):c.389_407del (p.His130fs)
NM_001077365.2(POMT1):c.389del (p.His130fs)
NM_001077365.2(POMT1):c.412C>T (p.Leu138=)
NM_001077365.2(POMT1):c.418A>G (p.Met140Val) rs2131607251
NM_001077365.2(POMT1):c.418_420del (p.Met140del) rs587777820
NM_001077365.2(POMT1):c.423T>C (p.Leu141=)
NM_001077365.2(POMT1):c.427+12G>T
NM_001077365.2(POMT1):c.427+17T>G
NM_001077365.2(POMT1):c.427+1G>A rs760071332
NM_001077365.2(POMT1):c.427+1_427+2insA rs900762841
NM_001077365.2(POMT1):c.427+20C>G
NM_001077365.2(POMT1):c.427G>A (p.Glu143Lys)
NM_001077365.2(POMT1):c.428-11C>T
NM_001077365.2(POMT1):c.428-2A>G rs1554773448
NM_001077365.2(POMT1):c.428-7G>A
NM_001077365.2(POMT1):c.428-7G>T
NM_001077365.2(POMT1):c.428-8T>C
NM_001077365.2(POMT1):c.430A>G (p.Asn144Asp) rs397514501
NM_001077365.2(POMT1):c.432del (p.Asn144fs)
NM_001077365.2(POMT1):c.434C>T (p.Ala145Val)
NM_001077365.2(POMT1):c.435T>A (p.Ala145=)
NM_001077365.2(POMT1):c.439A>G (p.Ile147Val)
NM_001077365.2(POMT1):c.443C>A (p.Thr148Asn) rs1564341846
NM_001077365.2(POMT1):c.459G>A (p.Met153Ile) rs1184495903
NM_001077365.2(POMT1):c.463T>C (p.Leu155=)
NM_001077365.2(POMT1):c.466G>C (p.Glu156Gln)
NM_001077365.2(POMT1):c.485del (p.Phe162fs) rs1250351189
NM_001077365.2(POMT1):c.498C>T (p.Ala166=)
NM_001077365.2(POMT1):c.499G>C (p.Val167Leu)
NM_001077365.2(POMT1):c.504G>A (p.Leu168=)
NM_001077365.2(POMT1):c.506C>G (p.Ser169Cys)
NM_001077365.2(POMT1):c.514_518delinsTCCTAC (p.Lys172fs)
NM_001077365.2(POMT1):c.520T>A (p.Phe174Ile)
NM_001077365.2(POMT1):c.529C>T (p.Gln177Ter)
NM_001077365.2(POMT1):c.533A>G (p.Lys178Arg)
NM_001077365.2(POMT1):c.538A>C (p.Ser180Arg) rs770239141
NM_001077365.2(POMT1):c.539+15G>A
NM_001077365.2(POMT1):c.539+20T>G
NM_001077365.2(POMT1):c.539+2T>C
NM_001077365.2(POMT1):c.539+9A>G rs964407139
NM_001077365.2(POMT1):c.540-3C>T
NM_001077365.2(POMT1):c.540-4C>G
NM_001077365.2(POMT1):c.540-8T>C
NM_001077365.2(POMT1):c.545T>G (p.Phe182Cys) rs1946684104
NM_001077365.2(POMT1):c.558G>A (p.Trp186Ter) rs772370177
NM_001077365.2(POMT1):c.558G>T (p.Trp186Cys)
NM_001077365.2(POMT1):c.559del (p.Trp187fs)
NM_001077365.2(POMT1):c.570A>T (p.Leu190=)
NM_001077365.2(POMT1):c.583del (p.Val195fs)
NM_001077365.2(POMT1):c.587C>T (p.Ala196Val)
NM_001077365.2(POMT1):c.58dup (p.Val20fs) rs2131554631
NM_001077365.2(POMT1):c.592T>A (p.Ser198Thr) rs767056835
NM_001077365.2(POMT1):c.59T>C (p.Val20Ala)
NM_001077365.2(POMT1):c.600_601delinsGA (p.Val201Met) rs2131641762
NM_001077365.2(POMT1):c.605+13dup
NM_001077365.2(POMT1):c.605+1G>C rs766648827
NM_001077365.2(POMT1):c.605+4A>G
NM_001077365.2(POMT1):c.606-12A>G rs1057523851
NM_001077365.2(POMT1):c.606-13C>T
NM_001077365.2(POMT1):c.606-14T>C
NM_001077365.2(POMT1):c.606del (p.Ile203fs) rs1588375386
NM_001077365.2(POMT1):c.621T>C (p.Gly207=)
NM_001077365.2(POMT1):c.622G>T (p.Val208Leu)
NM_001077365.2(POMT1):c.62C>T (p.Ala21Val)
NM_001077365.2(POMT1):c.633C>G (p.Tyr211Ter) rs747129906
NM_001077365.2(POMT1):c.633C>T (p.Tyr211=) rs747129906
NM_001077365.2(POMT1):c.636G>T (p.Val212=)
NM_001077365.2(POMT1):c.63C>T (p.Ala21=)
NM_001077365.2(POMT1):c.640G>T (p.Val214Leu)
NM_001077365.2(POMT1):c.641T>C (p.Val214Ala) rs919829316
NM_001077365.2(POMT1):c.669G>A (p.Trp223Ter)
NM_001077365.2(POMT1):c.673C>T (p.Leu225=)
NM_001077365.2(POMT1):c.675G>A (p.Leu225=)
NM_001077365.2(POMT1):c.677T>C (p.Leu226Pro) rs1554774207
NM_001077365.2(POMT1):c.687G>C (p.Gln229His) rs1946741782
NM_001077365.2(POMT1):c.688A>T (p.Thr230Ser)
NM_001077365.2(POMT1):c.689C>G (p.Thr230Ser)
NM_001077365.2(POMT1):c.699+14T>G rs370038491
NM_001077365.2(POMT1):c.699+14_699+17dup
NM_001077365.2(POMT1):c.699+18G>C rs886063537
NM_001077365.2(POMT1):c.699+24C>A
NM_001077365.2(POMT1):c.699+26T>G rs2131645042
NM_001077365.2(POMT1):c.699+39T>C
NM_001077365.2(POMT1):c.699+40A>G
NM_001077365.2(POMT1):c.699+45G>T
NM_001077365.2(POMT1):c.699+49A>T
NM_001077365.2(POMT1):c.699+5G>T
NM_001077365.2(POMT1):c.699+64G>C rs746958804
NM_001077365.2(POMT1):c.699+66G>T
NM_001077365.2(POMT1):c.699+67G>T rs776061161
NM_001077365.2(POMT1):c.699+67dup
NM_001077365.2(POMT1):c.699+6T>G
NM_001077365.2(POMT1):c.699+73G>C
NM_001077365.2(POMT1):c.699+74G>T
NM_001077365.2(POMT1):c.699+75T>C
NM_001077365.2(POMT1):c.699+76G>T
NM_001077365.2(POMT1):c.699+80del
NM_001077365.2(POMT1):c.699+81G>A
NM_001077365.2(POMT1):c.699+83_699+84insAT
NM_001077365.2(POMT1):c.699+85C>T rs369000699
NM_001077365.2(POMT1):c.699T>C (p.Asn233=)
NM_001077365.2(POMT1):c.700-17C>T rs1946817783
NM_001077365.2(POMT1):c.700-6T>C
NM_001077365.2(POMT1):c.700-7C>T rs1588380391
NM_001077365.2(POMT1):c.708G>A (p.Val236=)
NM_001077365.2(POMT1):c.720del (p.Leu240fs)
NM_001077365.2(POMT1):c.724G>T (p.Ala242Ser) rs779771679
NM_001077365.2(POMT1):c.725C>T (p.Ala242Val) rs1554774466
NM_001077365.2(POMT1):c.727C>T (p.Arg243Ter) rs398124247
NM_001077365.2(POMT1):c.728G>C (p.Arg243Pro) rs772980661
NM_001077365.2(POMT1):c.729A>G (p.Arg243=) rs2131652629
NM_001077365.2(POMT1):c.72del (p.Met25fs) rs2131554917
NM_001077365.2(POMT1):c.732A>C (p.Ala244=)
NM_001077365.2(POMT1):c.743T>G (p.Leu248Arg) rs1946833127
NM_001077365.2(POMT1):c.744G>A (p.Leu248=)
NM_001077365.2(POMT1):c.748A>G (p.Ile250Val)
NM_001077365.2(POMT1):c.759C>G (p.Val253=)
NM_001077365.2(POMT1):c.75G>T (p.Met25Ile)
NM_001077365.2(POMT1):c.761T>G (p.Leu254Arg)
NM_001077365.2(POMT1):c.762G>A (p.Leu254=)
NM_001077365.2(POMT1):c.773TCT[1] (p.Phe259del)
NM_001077365.2(POMT1):c.781G>A (p.Val261Ile) rs759734493
NM_001077365.2(POMT1):c.789_790del (p.Leu263fs)
NM_001077365.2(POMT1):c.797_808del (p.Val266_Ser269del)
NM_001077365.2(POMT1):c.7G>T (p.Gly3Ter)
NM_001077365.2(POMT1):c.804C>T (p.Arg268=)
NM_001077365.2(POMT1):c.813C>T (p.Pro271=)
NM_001077365.2(POMT1):c.846C>T (p.Ala282=) rs886043307
NM_001077365.2(POMT1):c.84G>C (p.Leu28=)
NM_001077365.2(POMT1):c.852A>T (p.Leu284Phe)
NM_001077365.2(POMT1):c.855+12G>A
NM_001077365.2(POMT1):c.855+17C>T
NM_001077365.2(POMT1):c.855+19del
NM_001077365.2(POMT1):c.855+20C>T
NM_001077365.2(POMT1):c.855+7A>G
NM_001077365.2(POMT1):c.856-15C>G rs1947072981
NM_001077365.2(POMT1):c.856-16_856-14del
NM_001077365.2(POMT1):c.856-17T>G
NM_001077365.2(POMT1):c.856-18C>T
NM_001077365.2(POMT1):c.856-2A>G
NM_001077365.2(POMT1):c.856-5C>T rs970574744
NM_001077365.2(POMT1):c.856-6T>C
NM_001077365.2(POMT1):c.859G>A (p.Gly287Arg)
NM_001077365.2(POMT1):c.859_871del (p.Gly287fs) rs2131672013
NM_001077365.2(POMT1):c.860G>A (p.Gly287Glu) rs1947076473
NM_001077365.2(POMT1):c.870G>A (p.Arg290=)
NM_001077365.2(POMT1):c.879G>T (p.Gln293His) rs1947080431
NM_001077365.2(POMT1):c.880G>A (p.Gly294Ser) rs145395372
NM_001077365.2(POMT1):c.881G>A (p.Gly294Asp) rs1947081771
NM_001077365.2(POMT1):c.885G>A (p.Gln295=)
NM_001077365.2(POMT1):c.888A>G (p.Pro296=)
NM_001077365.2(POMT1):c.889C>T (p.Leu297=)
NM_001077365.2(POMT1):c.897G>A (p.Val299=)
NM_001077365.2(POMT1):c.8G>A (p.Gly3Glu)
NM_001077365.2(POMT1):c.900C>G (p.Ala300=)
NM_001077365.2(POMT1):c.91del (p.Leu31fs)
NM_001077365.2(POMT1):c.927C>T (p.Asn309=) rs753694905
NM_001077365.2(POMT1):c.92T>A (p.Leu31Gln) rs2131555430
NM_001077365.2(POMT1):c.936G>A (p.Gly312=)
NM_001077365.2(POMT1):c.93del (p.Trp32fs)
NM_001077365.2(POMT1):c.948C>T (p.Pro316=)
NM_001077365.2(POMT1):c.962_982del (p.Ser321_Met328delinsLeu) rs2131673494
NM_001077365.2(POMT1):c.972_973insCT (p.Thr325fs)
NM_001077365.2(POMT1):c.978C>A (p.Tyr326Ter) rs1588391612
NM_001077365.2(POMT1):c.982A>C (p.Met328Leu)
NM_001077365.2(POMT1):c.986+10T>C
NM_001077365.2(POMT1):c.986+11G>A
NM_001077365.2(POMT1):c.986+12dup
NM_001077365.2(POMT1):c.987-2A>C rs1453773610
NM_001077365.2(POMT1):c.987-2A>G
NM_001077365.2(POMT1):c.987-4A>G
NM_001077365.2(POMT1):c.987-5C>T
NM_001077365.2(POMT1):c.988T>C (p.Tyr330His)
NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter) rs765230689
NM_001077365.2(POMT1):c.990T>C (p.Tyr330=)
NM_001077365.2(POMT1):c.993G>A (p.Glu331=)
NM_001077365.2(POMT1):c.996C>T (p.Asn332=)
NM_001077365.2(POMT1):c.[2101dup];[512T>G]
NM_001079802.1(FKTN):c.657dup (p.Gln220Thrfs) rs1554754678
NM_001079802.2(FKTN):c.*2516G>T rs886063331
NM_001079802.2(FKTN):c.*2640G>C rs556673268
NM_001079802.2(FKTN):c.*2674A>G rs1834156242
NM_001079802.2(FKTN):c.*2902C>T rs1834171760
NM_001079802.2(FKTN):c.*2904G>A rs138806979
NM_001079802.2(FKTN):c.*3046T>C rs886063333
NM_001079802.2(FKTN):c.*3156A>T rs886063334
NM_001079802.2(FKTN):c.*3312T>G rs1343215418
NM_001079802.2(FKTN):c.*3432dup rs879020291
NM_001079802.2(FKTN):c.*3985C>T rs1293866364
NM_001079802.2(FKTN):c.*4238del rs776272545
NM_001079802.2(FKTN):c.*42del rs749100291
NM_001079802.2(FKTN):c.*436C>T rs886063322
NM_001079802.2(FKTN):c.*4388del rs148253503
NM_001079802.2(FKTN):c.*4646A>G rs1834308173
NM_001079802.2(FKTN):c.*4705G>A rs1834312188
NM_001079802.2(FKTN):c.*4826A>G rs1834318656
NM_001079802.2(FKTN):c.*4859A>G rs1554768242
NM_001079802.2(FKTN):c.*4859A>T rs1554768242
NM_001079802.2(FKTN):c.*5303dup rs879263714
NM_001079802.2(FKTN):c.*5374_*5846del
NM_001079802.2(FKTN):c.*5817A>C rs886063343
NM_001079802.2(FKTN):c.*806G>C rs75971372
NM_001079802.2(FKTN):c.-181+1G>C rs574535599
NM_001079802.2(FKTN):c.-181+1G>T rs574535599
NM_001079802.2(FKTN):c.-1_2del (p.Met1del) rs1180986256
NM_001079802.2(FKTN):c.-45G>T rs77013649
NM_001079802.2(FKTN):c.-90del rs727502845
NM_001079802.2(FKTN):c.1002A>G (p.Ala334=) rs2133162787
NM_001079802.2(FKTN):c.1005T>C (p.Phe335=)
NM_001079802.2(FKTN):c.1011T>C (p.Asp337=)
NM_001079802.2(FKTN):c.1022del (p.Pro341fs) rs2133163213
NM_001079802.2(FKTN):c.1023G>A (p.Pro341=) rs146967918
NM_001079802.2(FKTN):c.1023G>T (p.Pro341=) rs146967918
NM_001079802.2(FKTN):c.1026C>T (p.Leu342=) rs17309806
NM_001079802.2(FKTN):c.1033A>G (p.Lys345Glu) rs2133163596
NM_001079802.2(FKTN):c.1044+15T>A rs1475492936
NM_001079802.2(FKTN):c.1044+16C>T rs1222775225
NM_001079802.2(FKTN):c.1044+17G>A rs200801909
NM_001079802.2(FKTN):c.1044+17G>C rs200801909
NM_001079802.2(FKTN):c.1044+19C>A rs2133164189
NM_001079802.2(FKTN):c.1044+9C>T rs2133163762
NM_001079802.2(FKTN):c.1045-13A>G
NM_001079802.2(FKTN):c.1045-20G>C rs2133209107
NM_001079802.2(FKTN):c.1045-3dup
NM_001079802.2(FKTN):c.1045-5C>T
NM_001079802.2(FKTN):c.1045G>A (p.Val349Ile) rs1831549660
NM_001079802.2(FKTN):c.1045G>C (p.Val349Leu) rs1831549660
NM_001079802.2(FKTN):c.1048_1065del (p.Glu350_Leu355del) rs2133209581
NM_001079802.2(FKTN):c.105+15T>C
NM_001079802.2(FKTN):c.105+17T>G
NM_001079802.2(FKTN):c.105+7T>A
NM_001079802.2(FKTN):c.105+9A>G rs1332542267
NM_001079802.2(FKTN):c.105+9_105+10dup rs759773682
NM_001079802.2(FKTN):c.1053C>T (p.Asp351=)
NM_001079802.2(FKTN):c.1055G>A (p.Ser352Asn)
NM_001079802.2(FKTN):c.105G>A (p.Lys35=) rs751029878
NM_001079802.2(FKTN):c.106-10G>C
NM_001079802.2(FKTN):c.106-10G>T rs148384394
NM_001079802.2(FKTN):c.106-12T>C
NM_001079802.2(FKTN):c.106-13G>A
NM_001079802.2(FKTN):c.106-14T>G
NM_001079802.2(FKTN):c.106-15T>G
NM_001079802.2(FKTN):c.106-17T>C
NM_001079802.2(FKTN):c.106-18C>A
NM_001079802.2(FKTN):c.106-18C>T rs748663594
NM_001079802.2(FKTN):c.106-1G>C rs2132594628
NM_001079802.2(FKTN):c.106-20T>C
NM_001079802.2(FKTN):c.106-20T>G
NM_001079802.2(FKTN):c.106-2A>C
NM_001079802.2(FKTN):c.106-2A>G rs1554748292
NM_001079802.2(FKTN):c.106-5C>A rs1338220455
NM_001079802.2(FKTN):c.106-5C>T
NM_001079802.2(FKTN):c.1065A>C (p.Leu355=) rs751317602
NM_001079802.2(FKTN):c.1065A>G (p.Leu355=)
NM_001079802.2(FKTN):c.107dup (p.Asn36fs)
NM_001079802.2(FKTN):c.1080A>G (p.Lys360=) rs2133210088
NM_001079802.2(FKTN):c.1082A>C (p.Asp361Ala)
NM_001079802.2(FKTN):c.1086T>A (p.Asp362Glu) rs1588221689
NM_001079802.2(FKTN):c.1086T>C (p.Asp362=) rs1588221689
NM_001079802.2(FKTN):c.1088T>G (p.Val363Gly) rs1362238936
NM_001079802.2(FKTN):c.1098T>C (p.Asp366=)
NM_001079802.2(FKTN):c.1099del (p.Val367fs) rs1554761310
NM_001079802.2(FKTN):c.109G>T (p.Gly37Ter) rs773884973
NM_001079802.2(FKTN):c.10A>C (p.Ile4Leu) rs757900916
NM_001079802.2(FKTN):c.1101T>C (p.Val367=)
NM_001079802.2(FKTN):c.1101T>G (p.Val367=)
NM_001079802.2(FKTN):c.1104T>A (p.Phe368Leu) rs1831558425
NM_001079802.2(FKTN):c.1106del (p.Phe369fs) rs750176716
NM_001079802.2(FKTN):c.1110C>T (p.Phe370=)
NM_001079802.2(FKTN):c.1113T>C (p.Tyr371=) rs2133210756
NM_001079802.2(FKTN):c.1116A>G (p.Glu372=) rs2133210810
NM_001079802.2(FKTN):c.1117G>T (p.Glu373Ter)
NM_001079802.2(FKTN):c.1119A>C (p.Glu373Asp) rs371776972
NM_001079802.2(FKTN):c.1119A>T (p.Glu373Asp) rs371776972
NM_001079802.2(FKTN):c.1129A>G (p.Met377Val) rs1200757732
NM_001079802.2(FKTN):c.1143C>A (p.Gly381=)
NM_001079802.2(FKTN):c.1146T>C (p.Thr382=) rs2133211422
NM_001079802.2(FKTN):c.1149G>A (p.Gln383=) rs1831565349
NM_001079802.2(FKTN):c.1149G>C (p.Gln383His)
NM_001079802.2(FKTN):c.1150G>T (p.Ala384Ser) rs1343750016
NM_001079802.2(FKTN):c.1153A>T (p.Lys385Ter) rs1588222602
NM_001079802.2(FKTN):c.1157C>T (p.Thr386Ile) rs1831566546
NM_001079802.2(FKTN):c.1158A>G (p.Thr386=) rs886044528
NM_001079802.2(FKTN):c.1162A>C (p.Lys388Gln) rs1831568665
NM_001079802.2(FKTN):c.1167A>G (p.Lys389=)
NM_001079802.2(FKTN):c.1167_1168dup (p.Phe390fs) rs1588222870
NM_001079802.2(FKTN):c.1167del (p.Lys389fs) rs398123555
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_001079802.2(FKTN):c.1172+13dup
NM_001079802.2(FKTN):c.1172+15A>G
NM_001079802.2(FKTN):c.1172+19C>T
NM_001079802.2(FKTN):c.1172+1G>A rs1554761462
NM_001079802.2(FKTN):c.1172+4T>C rs2133212082
NM_001079802.2(FKTN):c.1173-14_1173-13del rs2133450190
NM_001079802.2(FKTN):c.1173-16C>G
NM_001079802.2(FKTN):c.1173-18C>T
NM_001079802.2(FKTN):c.1173-19T>C
NM_001079802.2(FKTN):c.1173-1G>A rs557699482
NM_001079802.2(FKTN):c.1173-1G>C rs557699482
NM_001079802.2(FKTN):c.1173-2A>G rs1554766808
NM_001079802.2(FKTN):c.1173-4G>A
NM_001079802.2(FKTN):c.1173-9T>A rs2133450310
NM_001079802.2(FKTN):c.1173A>G (p.Lys391=) rs2133450404
NM_001079802.2(FKTN):c.1176C>A (p.Tyr392Ter) rs1203741361
NM_001079802.2(FKTN):c.1176C>G (p.Tyr392Ter) rs1203741361
NM_001079802.2(FKTN):c.1176C>T (p.Tyr392=)
NM_001079802.2(FKTN):c.1177C>A (p.Leu393Met) rs1249398294
NM_001079802.2(FKTN):c.1179G>A (p.Leu393=)
NM_001079802.2(FKTN):c.1179G>C (p.Leu393=) rs369117043
NM_001079802.2(FKTN):c.1179G>T (p.Leu393=)
NM_001079802.2(FKTN):c.1182T>G (p.Phe394Leu)
NM_001079802.2(FKTN):c.1185G>A (p.Pro395=) rs141886790
NM_001079802.2(FKTN):c.1185G>T (p.Pro395=) rs141886790
NM_001079802.2(FKTN):c.1191T>C (p.Phe397=) rs2133450806
NM_001079802.2(FKTN):c.1196T>C (p.Leu399Pro) rs1833923288
NM_001079802.2(FKTN):c.1198_1207del (p.Cys400fs) rs2133450854
NM_001079802.2(FKTN):c.11T>C (p.Ile4Thr)
NM_001079802.2(FKTN):c.1200C>G (p.Cys400Trp) rs2133450925
NM_001079802.2(FKTN):c.1201T>C (p.Trp401Arg)
NM_001079802.2(FKTN):c.1201del (p.Trp401fs) rs1554766841
NM_001079802.2(FKTN):c.1205C>T (p.Thr402Ile) rs371464705
NM_001079802.2(FKTN):c.1209G>A (p.Glu403=) rs2133451076
NM_001079802.2(FKTN):c.120G>A (p.Leu40=)
NM_001079802.2(FKTN):c.1210T>G (p.Phe404Val) rs1833925629
NM_001079802.2(FKTN):c.1215_1226del (p.Asp406_Val409del) rs1554766855
NM_001079802.2(FKTN):c.1224G>C (p.Lys408Asn) rs200091271
NM_001079802.2(FKTN):c.1225_1236delinsTT (p.Val409fs) rs1833929015
NM_001079802.2(FKTN):c.1226T>C (p.Val409Ala)
NM_001079802.2(FKTN):c.1236C>A (p.Pro412=) rs1554766880
NM_001079802.2(FKTN):c.1237T>C (p.Cys413Arg) rs138836248
NM_001079802.2(FKTN):c.1248C>G (p.Leu416=) rs774804160
NM_001079802.2(FKTN):c.1249G>T (p.Glu417Ter) rs765934383
NM_001079802.2(FKTN):c.1250A>T (p.Glu417Val) rs543684877
NM_001079802.2(FKTN):c.1255A>G (p.Ile419Val) rs2133451721
NM_001079802.2(FKTN):c.1256T>A (p.Ile419Asn)
NM_001079802.2(FKTN):c.1256T>C (p.Ile419Thr)
NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs) rs1588315166
NM_001079802.2(FKTN):c.1263C>T (p.Ala421=)
NM_001079802.2(FKTN):c.1264_1286del (p.Asn422fs) rs1554766898
NM_001079802.2(FKTN):c.1265A>G (p.Asn422Ser) rs1833935107
NM_001079802.2(FKTN):c.1266C>T (p.Asn422=)
NM_001079802.2(FKTN):c.1267_1270dup (p.Gly424fs)
NM_001079802.2(FKTN):c.1269T>C (p.Tyr423=) rs1554766906
NM_001079802.2(FKTN):c.1270G>A (p.Gly424Ser) rs752358445
NM_001079802.2(FKTN):c.1272dup (p.Lys425Ter)
NM_001079802.2(FKTN):c.1278C>T (p.Thr426=) rs2133452125
NM_001079802.2(FKTN):c.1284G>T (p.Lys428Asn) rs938548521
NM_001079802.2(FKTN):c.1287T>A (p.Ile429=) rs2133452264
NM_001079802.2(FKTN):c.1287del (p.Pro430fs) rs2133452242
NM_001079802.2(FKTN):c.1290T>G (p.Pro430=) rs2133452334
NM_001079802.2(FKTN):c.12C>T (p.Ile4=) rs1389073650
NM_001079802.2(FKTN):c.1305C>G (p.Asp435Glu) rs1043227892
NM_001079802.2(FKTN):c.1313G>A (p.Arg438His)
NM_001079802.2(FKTN):c.1315T>C (p.Ser439Pro) rs758196050
NM_001079802.2(FKTN):c.1317_1318dup (p.Pro440fs) rs886042778
NM_001079802.2(FKTN):c.1319C>T (p.Pro440Leu) rs1564357396
NM_001079802.2(FKTN):c.1337A>T (p.Asn446Ile) rs374912618
NM_001079802.2(FKTN):c.1338T>C (p.Asn446=) rs2133452991
NM_001079802.2(FKTN):c.1349C>T (p.Pro450Leu)
NM_001079802.2(FKTN):c.1350T>C (p.Pro450=) rs2133453085
NM_001079802.2(FKTN):c.1359G>A (p.Glu453=) rs2133453218
NM_001079802.2(FKTN):c.1363del (p.Asp455fs) rs587777814
NM_001079802.2(FKTN):c.1368G>A (p.Glu456=)
NM_001079802.2(FKTN):c.1369G>A (p.Val457Ile) rs775183646
NM_001079802.2(FKTN):c.1371_1381dup (p.Tyr461fs) rs727502847
NM_001079802.2(FKTN):c.1372_1373dup (p.Gln459fs)
NM_001079802.2(FKTN):c.1379T>C (p.Leu460Ser) rs1833947279
NM_001079802.2(FKTN):c.1381T>A (p.Tyr461Asn) rs760285197
NM_001079802.2(FKTN):c.13A>C (p.Asn5His) rs765929865
NM_001079802.2(FKTN):c.142A>G (p.Ile48Val)
NM_001079802.2(FKTN):c.145G>A (p.Gly49Arg) rs2132595541
NM_001079802.2(FKTN):c.153T>C (p.Asp51=)
NM_001079802.2(FKTN):c.159A>G (p.Thr53=)
NM_001079802.2(FKTN):c.15T>C (p.Asn5=) rs1841416731
NM_001079802.2(FKTN):c.162G>A (p.Gln54=)
NM_001079802.2(FKTN):c.164G>A (p.Trp55Ter)
NM_001079802.2(FKTN):c.164G>T (p.Trp55Leu) rs1826858068
NM_001079802.2(FKTN):c.165+10A>G rs2132596452
NM_001079802.2(FKTN):c.165+13A>G
NM_001079802.2(FKTN):c.165+15C>A
NM_001079802.2(FKTN):c.165+18G>T
NM_001079802.2(FKTN):c.165+1G>T
NM_001079802.2(FKTN):c.165+3A>G
NM_001079802.2(FKTN):c.165+5G>A rs2132596368
NM_001079802.2(FKTN):c.165G>A (p.Trp55Ter)
NM_001079802.2(FKTN):c.166-11C>A
NM_001079802.2(FKTN):c.166-16T>C
NM_001079802.2(FKTN):c.166-16T>G
NM_001079802.2(FKTN):c.166-17C>T
NM_001079802.2(FKTN):c.166-1G>A
NM_001079802.2(FKTN):c.166-3C>A
NM_001079802.2(FKTN):c.166-7_166-6inv
NM_001079802.2(FKTN):c.166-9C>T rs1361772036
NM_001079802.2(FKTN):c.169G>T (p.Ala57Ser)
NM_001079802.2(FKTN):c.170C>G (p.Ala57Gly)
NM_001079802.2(FKTN):c.170C>T (p.Ala57Val) rs1554751104
NM_001079802.2(FKTN):c.175_180del (p.Lys59_Lys60del) rs1554751112
NM_001079802.2(FKTN):c.180dup (p.Phe61fs) rs2132704748
NM_001079802.2(FKTN):c.183T>C (p.Phe61=)
NM_001079802.2(FKTN):c.187_188del (p.Met63fs) rs587777813
NM_001079802.2(FKTN):c.189_191del (p.Met63_Leu64delinsIle) rs1554751136
NM_001079802.2(FKTN):c.18G>C (p.Lys6Asn) rs2132016533
NM_001079802.2(FKTN):c.193A>G (p.Thr65Ala) rs762827229
NM_001079802.2(FKTN):c.194C>A (p.Thr65Lys) rs1238441242
NM_001079802.2(FKTN):c.194C>T (p.Thr65Ile)
NM_001079802.2(FKTN):c.196T>C (p.Ser66Pro) rs1827810710
NM_001079802.2(FKTN):c.208G>A (p.Val70Ile) rs1827814378
NM_001079802.2(FKTN):c.210A>T (p.Val70=)
NM_001079802.2(FKTN):c.215T>A (p.Val72Glu) rs1827815560
NM_001079802.2(FKTN):c.21C>G (p.Asn7Lys) rs564632018
NM_001079802.2(FKTN):c.220C>A (p.Leu74Ile) rs1060501407
NM_001079802.2(FKTN):c.222T>G (p.Leu74=)
NM_001079802.2(FKTN):c.223A>G (p.Ile75Val) rs1827816995
NM_001079802.2(FKTN):c.224T>C (p.Ile75Thr) rs756178260
NM_001079802.2(FKTN):c.22G>A (p.Val8Met) rs368981218
NM_001079802.2(FKTN):c.22G>T (p.Val8Leu) rs368981218
NM_001079802.2(FKTN):c.231T>G (p.Pro77=) rs2132706103
NM_001079802.2(FKTN):c.238C>T (p.Leu80=) rs1404872177
NM_001079802.2(FKTN):c.239T>C (p.Leu80Pro) rs371697266
NM_001079802.2(FKTN):c.245T>A (p.Leu82Ter)
NM_001079802.2(FKTN):c.251A>G (p.Asn84Ser)
NM_001079802.2(FKTN):c.252T>C (p.Asn84=)
NM_001079802.2(FKTN):c.256_257del (p.Asn86fs)
NM_001079802.2(FKTN):c.257A>T (p.Asn86Ile) rs1295912375
NM_001079802.2(FKTN):c.258C>T (p.Asn86=) rs1554751233
NM_001079802.2(FKTN):c.25G>C (p.Val9Leu) rs145387221
NM_001079802.2(FKTN):c.262G>C (p.Glu88Gln)
NM_001079802.2(FKTN):c.264A>G (p.Glu88=) rs2132706649
NM_001079802.2(FKTN):c.273A>G (p.Lys91=)
NM_001079802.2(FKTN):c.276T>C (p.Asn92=)
NM_001079802.2(FKTN):c.278C>T (p.Thr93Ile)
NM_001079802.2(FKTN):c.27T>G (p.Val9=)
NM_001079802.2(FKTN):c.281C>T (p.Ser94Phe)
NM_001079802.2(FKTN):c.283C>T (p.His95Tyr)
NM_001079802.2(FKTN):c.291T>C (p.Ser97=) rs2132707147
NM_001079802.2(FKTN):c.293C>G (p.Thr98Ser) rs376452959
NM_001079802.2(FKTN):c.293C>T (p.Thr98Ile) rs376452959
NM_001079802.2(FKTN):c.294T>A (p.Thr98=) rs2132707341
NM_001079802.2(FKTN):c.299A>C (p.Gln100Pro) rs1827828109
NM_001079802.2(FKTN):c.29T>C (p.Leu10Ser) rs1587865923
NM_001079802.2(FKTN):c.300A>G (p.Gln100=) rs1588088054
NM_001079802.2(FKTN):c.301T>C (p.Cys101Arg) rs886044095
NM_001079802.2(FKTN):c.306G>A (p.Lys102=)
NM_001079802.2(FKTN):c.312C>A (p.Phe104Leu) rs2132707762
NM_001079802.2(FKTN):c.312C>T (p.Phe104=)
NM_001079802.2(FKTN):c.316G>T (p.Val106Phe)
NM_001079802.2(FKTN):c.319C>G (p.Pro107Ala) rs2132707901
NM_001079802.2(FKTN):c.321A>G (p.Pro107=) rs1488726924
NM_001079802.2(FKTN):c.322A>G (p.Arg108Gly) rs2132707988
NM_001079802.2(FKTN):c.328T>C (p.Phe110Leu) rs2132708103
NM_001079802.2(FKTN):c.329_330del (p.Phe110fs) rs767865405
NM_001079802.2(FKTN):c.330dup (p.Thr111fs) rs767865405
NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr) rs119463995
NM_001079802.2(FKTN):c.343C>T (p.Leu115=)
NM_001079802.2(FKTN):c.345G>A (p.Leu115=)
NM_001079802.2(FKTN):c.348G>A (p.Gln116=) rs1361635341
NM_001079802.2(FKTN):c.350A>G (p.Tyr117Cys)
NM_001079802.2(FKTN):c.354C>T (p.His118=)
NM_001079802.2(FKTN):c.355C>T (p.Leu119=) rs1554751390
NM_001079802.2(FKTN):c.360G>A (p.Trp120Ter) rs1564284467
NM_001079802.2(FKTN):c.367G>T (p.Glu123Ter) rs1376019203
NM_001079802.2(FKTN):c.369+10T>C rs2132709628
NM_001079802.2(FKTN):c.369+12G>A
NM_001079802.2(FKTN):c.369+1G>A rs764125009
NM_001079802.2(FKTN):c.369+20A>G rs1354235244
NM_001079802.2(FKTN):c.369+20A>T
NM_001079802.2(FKTN):c.369+2T>G
NM_001079802.2(FKTN):c.369+4A>G rs1588088864
NM_001079802.2(FKTN):c.369+5G>C rs2132709437
NM_001079802.2(FKTN):c.369+6T>G rs1554751423
NM_001079802.2(FKTN):c.369+7G>A rs2132709548
NM_001079802.2(FKTN):c.370-10T>C
NM_001079802.2(FKTN):c.370-18A>T
NM_001079802.2(FKTN):c.370-2A>G rs1554752805
NM_001079802.2(FKTN):c.370-2A>T rs1554752805
NM_001079802.2(FKTN):c.370-7G>A rs797045577
NM_001079802.2(FKTN):c.370-7G>T rs797045577
NM_001079802.2(FKTN):c.370-8G>T
NM_001079802.2(FKTN):c.374G>A (p.Gly125Asp) rs142783718
NM_001079802.2(FKTN):c.374G>C (p.Gly125Ala) rs142783718
NM_001079802.2(FKTN):c.374G>T (p.Gly125Val) rs142783718
NM_001079802.2(FKTN):c.375C>T (p.Gly125=)
NM_001079802.2(FKTN):c.378del (p.Trp126fs)
NM_001079802.2(FKTN):c.37T>C (p.Leu13=) rs2132017021
NM_001079802.2(FKTN):c.384G>T (p.Arg128=)
NM_001079802.2(FKTN):c.388G>A (p.Ala130Thr)
NM_001079802.2(FKTN):c.394A>G (p.Asn132Asp) rs2132791236
NM_001079802.2(FKTN):c.395del (p.Asn132fs) rs2132791309
NM_001079802.2(FKTN):c.400G>A (p.Gly134Arg) rs1554752862
NM_001079802.2(FKTN):c.400G>T (p.Gly134Ter)
NM_001079802.2(FKTN):c.400_408del (p.Gly134_Gln136del) rs1176794033
NM_001079802.2(FKTN):c.401G>T (p.Gly134Val) rs2132791726
NM_001079802.2(FKTN):c.403_404insGCCTAAATCT (p.Phe135fs) rs1564290459
NM_001079802.2(FKTN):c.406C>T (p.Gln136Ter) rs2132792099
NM_001079802.2(FKTN):c.408G>C (p.Gln136His)
NM_001079802.2(FKTN):c.409T>A (p.Cys137Ser)
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_001079802.2(FKTN):c.411C>T (p.Cys137=) rs537001725
NM_001079802.2(FKTN):c.412C>T (p.Leu138=)
NM_001079802.2(FKTN):c.41C>G (p.Thr14Arg) rs149033995
NM_001079802.2(FKTN):c.420_432dup (p.Pro145Ter) rs2132792659
NM_001079802.2(FKTN):c.425G>A (p.Ser142Asn) rs745597550
NM_001079802.2(FKTN):c.426T>G (p.Ser142Arg)
NM_001079802.2(FKTN):c.428_429delinsT (p.Lys143fs)
NM_001079802.2(FKTN):c.429del (p.Asp144fs) rs1057516258
NM_001079802.2(FKTN):c.42G>C (p.Thr14=) rs78794935
NM_001079802.2(FKTN):c.42G>T (p.Thr14=) rs78794935
NM_001079802.2(FKTN):c.432del (p.Arg146fs) rs1588110929
NM_001079802.2(FKTN):c.435C>G (p.Pro145=) rs1356233558
NM_001079802.2(FKTN):c.436dup (p.Arg146fs)
NM_001079802.2(FKTN):c.438G>T (p.Arg146=) rs769735457
NM_001079802.2(FKTN):c.439C>T (p.Leu147=)
NM_001079802.2(FKTN):c.43C>T (p.Leu15=)
NM_001079802.2(FKTN):c.441A>G (p.Leu147=) rs2132793754
NM_001079802.2(FKTN):c.442_443del (p.Asp148fs)
NM_001079802.2(FKTN):c.447G>T (p.Gly149=)
NM_001079802.2(FKTN):c.448A>G (p.Ile150Val) rs886044482
NM_001079802.2(FKTN):c.454dup (p.Ser152fs) rs587777748
NM_001079802.2(FKTN):c.456A>G (p.Ser152=)
NM_001079802.2(FKTN):c.456_457del (p.Ser154fs) rs760731888
NM_001079802.2(FKTN):c.457C>G (p.Leu153Val) rs977350409
NM_001079802.2(FKTN):c.45G>T (p.Leu15=) rs2132017290
NM_001079802.2(FKTN):c.462T>A (p.Ser154=)
NM_001079802.2(FKTN):c.467C>A (p.Thr156Asn) rs1828456809
NM_001079802.2(FKTN):c.468T>G (p.Thr156=) rs752268829
NM_001079802.2(FKTN):c.473dup (p.Leu160fs)
NM_001079802.2(FKTN):c.475C>G (p.Pro159Ala) rs755830677
NM_001079802.2(FKTN):c.479T>C (p.Leu160Pro)
NM_001079802.2(FKTN):c.479del (p.Leu160fs)
NM_001079802.2(FKTN):c.481C>A (p.His161Asn) rs753338116
NM_001079802.2(FKTN):c.482A>G (p.His161Arg) rs727502848
NM_001079802.2(FKTN):c.483C>T (p.His161=) rs1319173869
NM_001079802.2(FKTN):c.488T>A (p.Ile163Asn) rs1828461999
NM_001079802.2(FKTN):c.489C>G (p.Ile163Met) rs980208971
NM_001079802.2(FKTN):c.48A>G (p.Thr16=) rs2132017319
NM_001079802.2(FKTN):c.499G>A (p.Ala167Thr) rs2132796265
NM_001079802.2(FKTN):c.49A>G (p.Ser17Gly)
NM_001079802.2(FKTN):c.501C>T (p.Ala167=)
NM_001079802.2(FKTN):c.505C>G (p.His169Asp) rs1243169303
NM_001079802.2(FKTN):c.506A>G (p.His169Arg)
NM_001079802.2(FKTN):c.507T>C (p.His169=) rs756766493
NM_001079802.2(FKTN):c.509C>A (p.Ala170Glu) rs119464997
NM_001079802.2(FKTN):c.509C>T (p.Ala170Val)
NM_001079802.2(FKTN):c.511A>T (p.Ile171Phe) rs1432918466
NM_001079802.2(FKTN):c.513C>A (p.Ile171=)
NM_001079802.2(FKTN):c.515A>T (p.His172Leu) rs758166890
NM_001079802.2(FKTN):c.51T>C (p.Ser17=)
NM_001079802.2(FKTN):c.520G>A (p.Val174Ile) rs749663903
NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser) rs119463996
NM_001079802.2(FKTN):c.528dup (p.His177fs) rs1588112379
NM_001079802.2(FKTN):c.530A>G (p.His177Arg) rs773322779
NM_001079802.2(FKTN):c.530A>T (p.His177Leu)
NM_001079802.2(FKTN):c.531T>A (p.His177Gln) rs534638144
NM_001079802.2(FKTN):c.531T>C (p.His177=) rs534638144
NM_001079802.2(FKTN):c.536G>C (p.Arg179Thr) rs119463994
NM_001079802.2(FKTN):c.537G>A (p.Arg179=)
NM_001079802.2(FKTN):c.538A>T (p.Ser180Cys) rs2132798439
NM_001079802.2(FKTN):c.539G>T (p.Ser180Ile)
NM_001079802.2(FKTN):c.540T>C (p.Ser180=)
NM_001079802.2(FKTN):c.543C>G (p.Gly181=)
NM_001079802.2(FKTN):c.545A>C (p.Asn182Thr) rs760170065
NM_001079802.2(FKTN):c.546C>T (p.Asn182=)
NM_001079802.2(FKTN):c.547T>A (p.Tyr183Asn) rs1163774436
NM_001079802.2(FKTN):c.549C>T (p.Tyr183=)
NM_001079802.2(FKTN):c.552C>T (p.Leu184=) rs2132798933
NM_001079802.2(FKTN):c.557A>G (p.His186Arg) rs1448279636
NM_001079802.2(FKTN):c.563A>G (p.His188Arg) rs1828484638
NM_001079802.2(FKTN):c.564C>G (p.His188Gln) rs1828485095
NM_001079802.2(FKTN):c.565T>C (p.Leu189=)
NM_001079802.2(FKTN):c.567G>C (p.Leu189Phe) rs988842962
NM_001079802.2(FKTN):c.567_568delinsTT (p.Leu189_Arg190delinsPheTer) rs2132800044
NM_001079802.2(FKTN):c.569G>A (p.Arg190Lys) rs760967116
NM_001079802.2(FKTN):c.569_570del (p.Arg190fs)
NM_001079802.2(FKTN):c.57A>G (p.Ala19=) rs2132017433
NM_001079802.2(FKTN):c.585dup (p.Asp196Ter) rs2132800552
NM_001079802.2(FKTN):c.586G>T (p.Asp196Tyr) rs756748012
NM_001079802.2(FKTN):c.587_590del (p.Asp196fs)
NM_001079802.2(FKTN):c.58T>G (p.Phe20Val) rs1554731003
NM_001079802.2(FKTN):c.615A>G (p.Leu205=)
NM_001079802.2(FKTN):c.617A>C (p.Gln206Pro)
NM_001079802.2(FKTN):c.619T>G (p.Phe207Val) rs1461669175
NM_001079802.2(FKTN):c.61C>T (p.Leu21=) rs2132017500
NM_001079802.2(FKTN):c.623G>A (p.Gly208Asp) rs778048703
NM_001079802.2(FKTN):c.623G>T (p.Gly208Val)
NM_001079802.2(FKTN):c.625C>T (p.Arg209Cys) rs749576551
NM_001079802.2(FKTN):c.626G>A (p.Arg209His) rs771109111
NM_001079802.2(FKTN):c.626_627dup (p.Tyr210fs)
NM_001079802.2(FKTN):c.630T>A (p.Tyr210Ter)
NM_001079802.2(FKTN):c.638C>T (p.Ala213Val) rs774612427
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_001079802.2(FKTN):c.645C>T (p.Asp215=) rs1464758743
NM_001079802.2(FKTN):c.647+12G>T
NM_001079802.2(FKTN):c.647+1G>A rs2132802825
NM_001079802.2(FKTN):c.647+20G>A
NM_001079802.2(FKTN):c.647+3A>G rs1828504981
NM_001079802.2(FKTN):c.647+5_647+7dup
NM_001079802.2(FKTN):c.647+8C>T
NM_001079802.2(FKTN):c.647+8_647+9del rs2132803231
NM_001079802.2(FKTN):c.647+9A>C rs1588113617
NM_001079802.2(FKTN):c.647+9A>G
NM_001079802.2(FKTN):c.647G>A (p.Arg216Lys) rs1828504500
NM_001079802.2(FKTN):c.647G>T (p.Arg216Met)
NM_001079802.2(FKTN):c.648-10T>C rs887162237
NM_001079802.2(FKTN):c.648-10_648-9del
NM_001079802.2(FKTN):c.648-1243G>A rs1554754182
NM_001079802.2(FKTN):c.648-1243G>T rs1554754182
NM_001079802.2(FKTN):c.648-15A>T
NM_001079802.2(FKTN):c.648-17T>A
NM_001079802.2(FKTN):c.648-18C>A
NM_001079802.2(FKTN):c.648-25_648-5del
NM_001079802.2(FKTN):c.648-2A>G
NM_001079802.2(FKTN):c.648-3C>T rs1430063746
NM_001079802.2(FKTN):c.648-4T>C rs1829177357
NM_001079802.2(FKTN):c.648-7T>C
NM_001079802.2(FKTN):c.64C>T (p.Leu22=)
NM_001079802.2(FKTN):c.653A>T (p.Glu218Val) rs978338266
NM_001079802.2(FKTN):c.658C>T (p.Gln220Ter) rs754081311
NM_001079802.2(FKTN):c.658_661del (p.Gln220fs) rs1057517160
NM_001079802.2(FKTN):c.659A>G (p.Gln220Arg)
NM_001079802.2(FKTN):c.660G>A (p.Gln220=)
NM_001079802.2(FKTN):c.663A>G (p.Gln221=)
NM_001079802.2(FKTN):c.664G>A (p.Val222Ile) rs1293245717
NM_001079802.2(FKTN):c.666T>C (p.Val222=)
NM_001079802.2(FKTN):c.667A>G (p.Thr223Ala)
NM_001079802.2(FKTN):c.66G>C (p.Leu22=)
NM_001079802.2(FKTN):c.672T>C (p.Val224=) rs2132898704
NM_001079802.2(FKTN):c.675T>A (p.Asp225Glu)
NM_001079802.2(FKTN):c.675T>C (p.Asp225=)
NM_001079802.2(FKTN):c.677G>C (p.Gly226Ala) rs2132899059
NM_001079802.2(FKTN):c.67T>C (p.Phe23Leu) rs2132017664
NM_001079802.2(FKTN):c.690C>G (p.Leu230=)
NM_001079802.2(FKTN):c.696A>G (p.Pro232=)
NM_001079802.2(FKTN):c.69T>C (p.Phe23=) rs1238906881
NM_001079802.2(FKTN):c.69T>G (p.Phe23Leu)
NM_001079802.2(FKTN):c.69dup (p.Gln24fs)
NM_001079802.2(FKTN):c.6T>C (p.Ser2=) rs1350049256
NM_001079802.2(FKTN):c.705A>G (p.Pro235=) rs1829190548
NM_001079802.2(FKTN):c.705A>T (p.Pro235=)
NM_001079802.2(FKTN):c.711C>G (p.His237Gln) rs562170364
NM_001079802.2(FKTN):c.719AAG[1] (p.Glu241del) rs1437925297
NM_001079802.2(FKTN):c.727C>G (p.Pro243Ala) rs1564301303
NM_001079802.2(FKTN):c.730C>T (p.His244Tyr) rs1194640294
NM_001079802.2(FKTN):c.738G>A (p.Arg246=)
NM_001079802.2(FKTN):c.73T>C (p.Leu25=) rs2132017783
NM_001079802.2(FKTN):c.743T>C (p.Ile248Thr) rs2132900809
NM_001079802.2(FKTN):c.745G>T (p.Glu249Ter)
NM_001079802.2(FKTN):c.745_746delinsT (p.Glu249fs)
NM_001079802.2(FKTN):c.750T>C (p.Cys250=) rs2132901145
NM_001079802.2(FKTN):c.751A>G (p.Arg251Gly)
NM_001079802.2(FKTN):c.756T>A (p.Tyr252Ter) rs1564301594
NM_001079802.2(FKTN):c.759A>G (p.Lys253=)
NM_001079802.2(FKTN):c.765T>C (p.Ala255=) rs2132901560
NM_001079802.2(FKTN):c.766C>A (p.Arg256=) rs377417974
NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter) rs377417974
NM_001079802.2(FKTN):c.767G>A (p.Arg256Gln)
NM_001079802.2(FKTN):c.768A>C (p.Arg256=)
NM_001079802.2(FKTN):c.770del (p.Ala257fs) rs1057516966
NM_001079802.2(FKTN):c.771A>G (p.Ala257=)
NM_001079802.2(FKTN):c.774C>G (p.Phe258Leu) rs1829205310
NM_001079802.2(FKTN):c.780+10A>G
NM_001079802.2(FKTN):c.780+10A>T rs2132902784
NM_001079802.2(FKTN):c.780+11A>G rs1829208773
NM_001079802.2(FKTN):c.780+11del rs931791589
NM_001079802.2(FKTN):c.780+12C>A
NM_001079802.2(FKTN):c.780+13C>G
NM_001079802.2(FKTN):c.780+15_780+16dup rs765546968
NM_001079802.2(FKTN):c.780+16A>C
NM_001079802.2(FKTN):c.780+16A>G
NM_001079802.2(FKTN):c.780+18G>T
NM_001079802.2(FKTN):c.780+19T>C rs752490932
NM_001079802.2(FKTN):c.780+1G>A rs370819786
NM_001079802.2(FKTN):c.780+20G>A rs560193714
NM_001079802.2(FKTN):c.780+20G>C
NM_001079802.2(FKTN):c.780+20G>T
NM_001079802.2(FKTN):c.780+2T>A
NM_001079802.2(FKTN):c.780+2T>C rs1588136441
NM_001079802.2(FKTN):c.780+7G>A
NM_001079802.2(FKTN):c.780G>A (p.Gln260=) rs1459814015
NM_001079802.2(FKTN):c.781-10A>C rs2133098060
NM_001079802.2(FKTN):c.781-10A>T rs2133098060
NM_001079802.2(FKTN):c.781-11_781-9del rs1830613326
NM_001079802.2(FKTN):c.781-12T>C
NM_001079802.2(FKTN):c.781-14T>C
NM_001079802.2(FKTN):c.781-15T>A
NM_001079802.2(FKTN):c.781-17A>G
NM_001079802.2(FKTN):c.781-1G>A
NM_001079802.2(FKTN):c.781-3T>A rs2133098515
NM_001079802.2(FKTN):c.781-4G>A rs1588182774
NM_001079802.2(FKTN):c.781-8A>C
NM_001079802.2(FKTN):c.783G>A (p.Gln261=)
NM_001079802.2(FKTN):c.784T>C (p.Tyr262His)
NM_001079802.2(FKTN):c.788T>G (p.Leu263Arg) rs1564318575
NM_001079802.2(FKTN):c.78C>G (p.Tyr26Ter) rs369797361
NM_001079802.2(FKTN):c.794A>G (p.Asp265Gly) rs2133098941
NM_001079802.2(FKTN):c.801T>C (p.Thr267=) rs2133099117
NM_001079802.2(FKTN):c.803_804del (p.Val268fs)
NM_001079802.2(FKTN):c.824A>G (p.Lys275Arg) rs2133099564
NM_001079802.2(FKTN):c.82_83insGT (p.Tyr28fs)
NM_001079802.2(FKTN):c.835G>A (p.Glu279Lys)
NM_001079802.2(FKTN):c.836A>G (p.Glu279Gly)
NM_001079802.2(FKTN):c.838T>C (p.Leu280=) rs2133099979
NM_001079802.2(FKTN):c.83A>G (p.Tyr28Cys) rs374203636
NM_001079802.2(FKTN):c.840dup (p.Leu281fs)
NM_001079802.2(FKTN):c.841C>G (p.Leu281Val) rs199697041
NM_001079802.2(FKTN):c.844C>T (p.Gln282Ter)
NM_001079802.2(FKTN):c.861A>C (p.Thr287=)
NM_001079802.2(FKTN):c.861A>G (p.Thr287=)
NM_001079802.2(FKTN):c.861A>T (p.Thr287=)
NM_001079802.2(FKTN):c.867C>T (p.Asn289=) rs1554757882
NM_001079802.2(FKTN):c.868A>T (p.Lys290Ter) rs1438288380
NM_001079802.2(FKTN):c.877G>T (p.Val293Leu) rs146900302
NM_001079802.2(FKTN):c.882A>G (p.Pro294=)
NM_001079802.2(FKTN):c.884T>A (p.Phe295Tyr) rs1830635344
NM_001079802.2(FKTN):c.885C>G (p.Phe295Leu) rs1564319328
NM_001079802.2(FKTN):c.898G>A (p.Gly300Arg)
NM_001079802.2(FKTN):c.900A>G (p.Gly300=)
NM_001079802.2(FKTN):c.905G>A (p.Cys302Tyr) rs1554757939
NM_001079802.2(FKTN):c.907C>T (p.Leu303=) rs147778604
NM_001079802.2(FKTN):c.90C>T (p.His30=) rs2132018196
NM_001079802.2(FKTN):c.910+12A>G
NM_001079802.2(FKTN):c.910+13C>G
NM_001079802.2(FKTN):c.910+19T>C rs771773538
NM_001079802.2(FKTN):c.910+19T>G rs771773538
NM_001079802.2(FKTN):c.910+1G>C
NM_001079802.2(FKTN):c.910+7T>G rs1830641729
NM_001079802.2(FKTN):c.910+8T>A rs2133101895
NM_001079802.2(FKTN):c.911-13A>G rs766103012
NM_001079802.2(FKTN):c.911-13A>T rs766103012
NM_001079802.2(FKTN):c.911-16T>G
NM_001079802.2(FKTN):c.911-18A>T
NM_001079802.2(FKTN):c.911-2A>C
NM_001079802.2(FKTN):c.911-7T>C rs2133160455
NM_001079802.2(FKTN):c.911-8C>T rs749557617
NM_001079802.2(FKTN):c.911-8_911-6del rs1235625341
NM_001079802.2(FKTN):c.912A>G (p.Gly304=) rs778424333
NM_001079802.2(FKTN):c.912A>T (p.Gly304=)
NM_001079802.2(FKTN):c.914G>A (p.Trp305Ter) rs2133160637
NM_001079802.2(FKTN):c.917A>G (p.Tyr306Cys)
NM_001079802.2(FKTN):c.919C>G (p.Arg307Gly) rs267606814
NM_001079802.2(FKTN):c.921A>G (p.Arg307=)
NM_001079802.2(FKTN):c.934A>G (p.Ile312Val) rs2133161218
NM_001079802.2(FKTN):c.938C>T (p.Pro313Leu) rs1588204815
NM_001079802.2(FKTN):c.93T>A (p.Tyr31Ter) rs2132018294
NM_001079802.2(FKTN):c.93T>C (p.Tyr31=) rs2132018294
NM_001079802.2(FKTN):c.941A>G (p.Tyr314Cys) rs1451453111
NM_001079802.2(FKTN):c.942T>G (p.Tyr314Ter) rs970907026
NM_001079802.2(FKTN):c.952G>A (p.Val318Ile) rs141120187
NM_001079802.2(FKTN):c.960A>T (p.Leu320=) rs2133161727
NM_001079802.2(FKTN):c.961G>A (p.Gly321Arg) rs1831143790
NM_001079802.2(FKTN):c.964A>T (p.Ile322Phe)
NM_001079802.2(FKTN):c.970_973delinsTT (p.Ile324fs)
NM_001079802.2(FKTN):c.975A>C (p.Gln325His) rs774410536
NM_001079802.2(FKTN):c.976G>A (p.Asp326Asn)
NM_001079802.2(FKTN):c.976G>T (p.Asp326Tyr)
NM_001079802.2(FKTN):c.977A>G (p.Asp326Gly) rs759791267
NM_001079802.2(FKTN):c.979_985dup (p.Ser329fs)
NM_001079802.2(FKTN):c.993T>C (p.Ile331=)
NM_001079802.2(FKTN):c.998T>C (p.Leu333Ser)
NM_001098272.3(HMGCS1):c.1289G>A (p.Arg430Lys)
NM_001098272.3(HMGCS1):c.1339T>C (p.Ser447Pro)
NM_001098272.3(HMGCS1):c.209T>C (p.Met70Thr)
NM_001098272.3(HMGCS1):c.344_345del (p.Ser115fs)
NM_001098272.3(HMGCS1):c.803G>C (p.Cys268Ser)
NM_001098272.3(HMGCS1):c.86A>T (p.Gln29Leu)
NM_001098272.3(HMGCS1):c.890G>T (p.Gly297Val)
NM_001101426.3(CRPPA):c.(535_684)+6399_(535_684)+14526del
NM_001101426.4(CRPPA):c.(534+1_535-1)_(933+1_934-1)del
NM_001101426.4(CRPPA):c.-14_10del (p.Met1_Gly4del)
NM_001101426.4(CRPPA):c.1008C>T (p.Tyr336=) rs1783720072
NM_001101426.4(CRPPA):c.1017T>A (p.Val339=) rs773884120
NM_001101426.4(CRPPA):c.1017T>C (p.Val339=) rs773884120
NM_001101426.4(CRPPA):c.101G>A (p.Ser34Asn)
NM_001101426.4(CRPPA):c.1026+15A>G
NM_001101426.4(CRPPA):c.1026+5G>C rs762349005
NM_001101426.4(CRPPA):c.1027-18A>G
NM_001101426.4(CRPPA):c.1040A>T (p.Asp347Val) rs1583472575
NM_001101426.4(CRPPA):c.1081A>G (p.Ser361Gly)
NM_001101426.4(CRPPA):c.1082G>A (p.Ser361Asn) rs2128412318
NM_001101426.4(CRPPA):c.108C>G (p.Ala36=) rs1319812253
NM_001101426.4(CRPPA):c.1092C>A (p.Cys364Ter)
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del) rs587777798
NM_001101426.4(CRPPA):c.1112T>C (p.Val371Ala)
NM_001101426.4(CRPPA):c.1119+13A>G rs2128412301
NM_001101426.4(CRPPA):c.1119+19G>T rs755221887
NM_001101426.4(CRPPA):c.1119+3A>G rs1783701192
NM_001101426.4(CRPPA):c.1120-12T>C rs1331188356
NM_001101426.4(CRPPA):c.1120-12del
NM_001101426.4(CRPPA):c.1120-17T>C
NM_001101426.4(CRPPA):c.1120-1G>T rs397515396
NM_001101426.4(CRPPA):c.1120-3C>G
NM_001101426.4(CRPPA):c.1120-4G>C rs886042445
NM_001101426.4(CRPPA):c.1120-7T>C rs2128398361
NM_001101426.4(CRPPA):c.1122T>G (p.Val374=)
NM_001101426.4(CRPPA):c.1133A>G (p.Asp378Gly) rs1391543167
NM_001101426.4(CRPPA):c.1137dup (p.Lys380Ter)
NM_001101426.4(CRPPA):c.1139A>T (p.Lys380Ile) rs747075828
NM_001101426.4(CRPPA):c.1147C>A (p.Pro383Thr) rs571551238
NM_001101426.4(CRPPA):c.1148C>A (p.Pro383His) rs758393771
NM_001101426.4(CRPPA):c.1152C>T (p.Pro384=)
NM_001101426.4(CRPPA):c.1155T>C (p.Ser385=)
NM_001101426.4(CRPPA):c.1167A>G (p.Glu389=) rs2128398327
NM_001101426.4(CRPPA):c.1175T>G (p.Met392Arg) rs1782301148
NM_001101426.4(CRPPA):c.1183A>G (p.Arg395Gly) rs957843384
NM_001101426.4(CRPPA):c.1186G>T (p.Glu396Ter) rs886042554
NM_001101426.4(CRPPA):c.118C>G (p.Pro40Ala)
NM_001101426.4(CRPPA):c.1194A>C (p.Ala398=) rs769147263
NM_001101426.4(CRPPA):c.1198G>T (p.Glu400Ter) rs1453431411
NM_001101426.4(CRPPA):c.1203A>G (p.Val401=)
NM_001101426.4(CRPPA):c.1206del (p.Glu403fs)
NM_001101426.4(CRPPA):c.1219T>C (p.Leu407=)
NM_001101426.4(CRPPA):c.121G>A (p.Gly41Arg)
NM_001101426.4(CRPPA):c.1224A>T (p.Leu408Phe) rs931469039
NM_001101426.4(CRPPA):c.123G>A (p.Gly41=) rs761842188
NM_001101426.4(CRPPA):c.124C>T (p.Arg42Cys) rs1415518757
NM_001101426.4(CRPPA):c.1251+17T>A rs2128398264
NM_001101426.4(CRPPA):c.1251+7A>T
NM_001101426.4(CRPPA):c.1252-3C>T rs2128361106
NM_001101426.4(CRPPA):c.1252G>T (p.Asp418Tyr) rs1781843954
NM_001101426.4(CRPPA):c.1257T>C (p.Asp419=) rs2128361098
NM_001101426.4(CRPPA):c.1263G>A (p.Lys421=)
NM_001101426.4(CRPPA):c.1269G>A (p.Gln423=)
NM_001101426.4(CRPPA):c.1272G>C (p.Glu424Asp) rs2064970438
NM_001101426.4(CRPPA):c.1275T>A (p.Ser425Arg) rs1781843424
NM_001101426.4(CRPPA):c.1310T>C (p.Ile437Thr)
NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter) rs1202301143
NM_001101426.4(CRPPA):c.1320A>G (p.Arg440=) rs1474282728
NM_001101426.4(CRPPA):c.1338T>A (p.Gly446=)
NM_001101426.4(CRPPA):c.1338T>G (p.Gly446=) rs1424229425
NM_001101426.4(CRPPA):c.1350A>G (p.Ile450Met) rs1781841345
NM_001101426.4(CRPPA):c.1354T>C (p.Ter452Arg) rs186882839
NM_001101426.4(CRPPA):c.138C>G (p.Ala46=) rs1162623078
NM_001101426.4(CRPPA):c.159C>A (p.Ala53=)
NM_001101426.4(CRPPA):c.160G>T (p.Gly54Trp) rs1036959263
NM_001101426.4(CRPPA):c.161G>C (p.Gly54Ala) rs587777797
NM_001101426.4(CRPPA):c.165del (p.Cys56fs) rs1554371369
NM_001101426.4(CRPPA):c.165dup (p.Cys56fs) rs1554371369
NM_001101426.4(CRPPA):c.172G>A (p.Glu58Lys)
NM_001101426.4(CRPPA):c.178A>T (p.Met60Leu)
NM_001101426.4(CRPPA):c.17_24dup (p.Ala9fs)
NM_001101426.4(CRPPA):c.181G>C (p.Gly61Arg)
NM_001101426.4(CRPPA):c.184del (p.Val62fs) rs1048457038
NM_001101426.4(CRPPA):c.211A>G (p.Ile71Val)
NM_001101426.4(CRPPA):c.21_44del (p.Ser8_Gly15del)
NM_001101426.4(CRPPA):c.220A>G (p.Arg74Gly) rs1788324318
NM_001101426.4(CRPPA):c.221G>T (p.Arg74Met) rs1292380177
NM_001101426.4(CRPPA):c.245A>C (p.Gln82Pro) rs949985964
NM_001101426.4(CRPPA):c.245A>G (p.Gln82Arg) rs949985964
NM_001101426.4(CRPPA):c.246G>A (p.Gln82=) rs2128321451
NM_001101426.4(CRPPA):c.247G>T (p.Ala83Ser) rs2128321450
NM_001101426.4(CRPPA):c.256A>T (p.Arg86Ter) rs397514548
NM_001101426.4(CRPPA):c.257+11G>A
NM_001101426.4(CRPPA):c.257+17C>A rs895474080
NM_001101426.4(CRPPA):c.257+7C>G
NM_001101426.4(CRPPA):c.257+8G>A rs966346002
NM_001101426.4(CRPPA):c.258-18C>T
NM_001101426.4(CRPPA):c.258-19A>G rs747712011
NM_001101426.4(CRPPA):c.258-1G>C rs767978961
NM_001101426.4(CRPPA):c.258-2A>G
NM_001101426.4(CRPPA):c.258-3T>G rs899936625
NM_001101426.4(CRPPA):c.258-8C>T rs750772320
NM_001101426.4(CRPPA):c.25G>A (p.Ala9Thr) rs909976918
NM_001101426.4(CRPPA):c.262T>C (p.Cys88Arg) rs1384501487
NM_001101426.4(CRPPA):c.288A>G (p.Ala96=) rs374684209
NM_001101426.4(CRPPA):c.303C>A (p.Asn101Lys) rs1787953727
NM_001101426.4(CRPPA):c.315G>T (p.Met105Ile) rs1190661385
NM_001101426.4(CRPPA):c.327T>A (p.Ile109=) rs2128318470
NM_001101426.4(CRPPA):c.32C>T (p.Pro11Leu) rs192925278
NM_001101426.4(CRPPA):c.334T>G (p.Tyr112Asp) rs1281479457
NM_001101426.4(CRPPA):c.337C>T (p.Gln113Ter)
NM_001101426.4(CRPPA):c.344_345insT (p.Lys115fs)
NM_001101426.4(CRPPA):c.346C>G (p.Arg116Gly)
NM_001101426.4(CRPPA):c.351C>T (p.Ile117=)
NM_001101426.4(CRPPA):c.356T>A (p.Leu119Gln) rs1356080750
NM_001101426.4(CRPPA):c.360C>G (p.Val120=) rs183141256
NM_001101426.4(CRPPA):c.360C>T (p.Val120=) rs183141256
NM_001101426.4(CRPPA):c.364G>C (p.Ala122Pro) rs387907162
NM_001101426.4(CRPPA):c.368G>T (p.Gly123Val) rs2128318458
NM_001101426.4(CRPPA):c.36_44del (p.Glu13_Gly15del) rs990740417
NM_001101426.4(CRPPA):c.376C>G (p.Arg126Gly) rs1472549168
NM_001101426.4(CRPPA):c.376C>T (p.Arg126Cys) rs1472549168
NM_001101426.4(CRPPA):c.377G>A (p.Arg126His)
NM_001101426.4(CRPPA):c.381C>T (p.His127=)
NM_001101426.4(CRPPA):c.384G>A (p.Arg128=) rs759742555
NM_001101426.4(CRPPA):c.387A>C (p.Ser129=)
NM_001101426.4(CRPPA):c.393C>T (p.Phe131=)
NM_001101426.4(CRPPA):c.394A>T (p.Asn132Tyr) rs2128318452
NM_001101426.4(CRPPA):c.408A>G (p.Ala136=) rs541412708
NM_001101426.4(CRPPA):c.411G>C (p.Leu137=)
NM_001101426.4(CRPPA):c.412G>T (p.Ala138Ser) rs1787948983
NM_001101426.4(CRPPA):c.425T>A (p.Ile142Asn) rs1554363950
NM_001101426.4(CRPPA):c.426C>G (p.Ile142Met)
NM_001101426.4(CRPPA):c.43G>T (p.Gly15Cys) rs1314652586
NM_001101426.4(CRPPA):c.441T>C (p.Ser147=)
NM_001101426.4(CRPPA):c.44G>T (p.Gly15Val) rs573488291
NM_001101426.4(CRPPA):c.45T>A (p.Gly15=)
NM_001101426.4(CRPPA):c.463C>T (p.His155Tyr)
NM_001101426.4(CRPPA):c.466G>A (p.Asp156Asn) rs397514547
NM_001101426.4(CRPPA):c.496G>A (p.Val166Ile) rs2128318425
NM_001101426.4(CRPPA):c.508G>A (p.Val170Ile) rs762819997
NM_001101426.4(CRPPA):c.526G>A (p.Glu176Lys) rs2128318414
NM_001101426.4(CRPPA):c.52C>G (p.Leu18Val) rs886043287
NM_001101426.4(CRPPA):c.52dup (p.Leu18fs) rs2128321527
NM_001101426.4(CRPPA):c.534+13dup
NM_001101426.4(CRPPA):c.534+18A>G rs2128318410
NM_001101426.4(CRPPA):c.534+1del
NM_001101426.4(CRPPA):c.534G>C (p.Gly178=) rs200798632
NM_001101426.4(CRPPA):c.535-20T>G rs2128312096
NM_001101426.4(CRPPA):c.54_55delinsTGC (p.Ser19fs) rs2128321525
NM_001101426.4(CRPPA):c.550C>G (p.Arg184Gly) rs370499190
NM_001101426.4(CRPPA):c.561A>T (p.Val187=) rs376375569
NM_001101426.4(CRPPA):c.565A>T (p.Thr189Ser) rs1786881434
NM_001101426.4(CRPPA):c.577C>T (p.Pro193Ser) rs1275411039
NM_001101426.4(CRPPA):c.585T>G (p.Ala195=)
NM_001101426.4(CRPPA):c.602A>T (p.Tyr201Phe) rs1198960792
NM_001101426.4(CRPPA):c.606G>C (p.Ser202=)
NM_001101426.4(CRPPA):c.614G>T (p.Arg205Leu)
NM_001101426.4(CRPPA):c.621A>G (p.Arg207=)
NM_001101426.4(CRPPA):c.623A>G (p.His208Arg)
NM_001101426.4(CRPPA):c.634G>A (p.Glu212Lys) rs2128312068
NM_001101426.4(CRPPA):c.635A>C (p.Glu212Ala) rs2128312067
NM_001101426.4(CRPPA):c.638T>G (p.Met213Arg) rs397515408
NM_001101426.4(CRPPA):c.640C>A (p.Pro214Thr) rs886043226
NM_001101426.4(CRPPA):c.641C>T (p.Pro214Leu)
NM_001101426.4(CRPPA):c.643C>A (p.Gln215Lys) rs370627877
NM_001101426.4(CRPPA):c.646G>T (p.Ala216Ser) rs1786876478
NM_001101426.4(CRPPA):c.647C>A (p.Ala216Asp) rs387907160
NM_001101426.4(CRPPA):c.654A>C (p.Leu218=)
NM_001101426.4(CRPPA):c.657T>C (p.Phe219=)
NM_001101426.4(CRPPA):c.659A>G (p.Asp220Gly) rs769223335
NM_001101426.4(CRPPA):c.669T>C (p.Tyr223=)
NM_001101426.4(CRPPA):c.674C>G (p.Ala225Gly) rs1786875241
NM_001101426.4(CRPPA):c.684+11G>A
NM_001101426.4(CRPPA):c.684+12G>A rs376232862
NM_001101426.4(CRPPA):c.684+13G>A
NM_001101426.4(CRPPA):c.684+14C>G
NM_001101426.4(CRPPA):c.684+16T>C
NM_001101426.4(CRPPA):c.685-25GTT[4] rs142647500
NM_001101426.4(CRPPA):c.685-25GTT[6] rs142647500
NM_001101426.4(CRPPA):c.686G>A (p.Cys229Tyr) rs2128424737
NM_001101426.4(CRPPA):c.691G>C (p.Asp231His) rs1784967390
NM_001101426.4(CRPPA):c.6G>T (p.Glu2Asp) rs2128321553
NM_001101426.4(CRPPA):c.6_13dup (p.Pro5fs)
NM_001101426.4(CRPPA):c.704_705del (p.Glu235fs) rs781097746
NM_001101426.4(CRPPA):c.706T>G (p.Phe236Val)
NM_001101426.4(CRPPA):c.711A>G (p.Gly237=)
NM_001101426.4(CRPPA):c.713C>G (p.Thr238Ser) rs397515409
NM_001101426.4(CRPPA):c.713C>T (p.Thr238Ile) rs397515409
NM_001101426.4(CRPPA):c.722del (p.Leu241fs) rs1554320168
NM_001101426.4(CRPPA):c.723G>A (p.Leu241=) rs754775519
NM_001101426.4(CRPPA):c.729G>T (p.Leu243Phe) rs1784965639
NM_001101426.4(CRPPA):c.735A>G (p.Leu245=)
NM_001101426.4(CRPPA):c.737A>G (p.Lys246Arg) rs1583508021
NM_001101426.4(CRPPA):c.75C>T (p.Asp25=) rs1292034515
NM_001101426.4(CRPPA):c.764T>C (p.Val255Ala) rs2128424716
NM_001101426.4(CRPPA):c.773C>A (p.Ser258Ter) rs1466219701
NM_001101426.4(CRPPA):c.77A>C (p.His26Pro) rs886044190
NM_001101426.4(CRPPA):c.784T>A (p.Trp262Arg)
NM_001101426.4(CRPPA):c.789+10A>T
NM_001101426.4(CRPPA):c.789+2T>G rs397515397
NM_001101426.4(CRPPA):c.789+89A>C
NM_001101426.4(CRPPA):c.789+89_789+90delinsGA
NM_001101426.4(CRPPA):c.790-1G>C rs2128422954
NM_001101426.4(CRPPA):c.79_80del (p.Thr27fs)
NM_001101426.4(CRPPA):c.802C>T (p.Arg268Ter) rs368593151
NM_001101426.4(CRPPA):c.816G>A (p.Ala272=) rs754348253
NM_001101426.4(CRPPA):c.816G>T (p.Ala272=) rs754348253
NM_001101426.4(CRPPA):c.824C>T (p.Ser275Leu) rs1784787407
NM_001101426.4(CRPPA):c.82G>C (p.Ala28Pro) rs2128321512
NM_001101426.4(CRPPA):c.832A>T (p.Lys278Ter) rs387907161
NM_001101426.4(CRPPA):c.835+14T>G
NM_001101426.4(CRPPA):c.836-16T>A
NM_001101426.4(CRPPA):c.836-16_836-15insC
NM_001101426.4(CRPPA):c.836-19_836-18dup rs3839757
NM_001101426.4(CRPPA):c.836-19dup rs3839757
NM_001101426.4(CRPPA):c.836-5T>G rs1583487698
NM_001101426.4(CRPPA):c.836-9del rs3839757
NM_001101426.4(CRPPA):c.845C>T (p.Ser282Phe)
NM_001101426.4(CRPPA):c.847C>G (p.Gln283Glu) rs750477422
NM_001101426.4(CRPPA):c.854T>G (p.Ile285Ser)
NM_001101426.4(CRPPA):c.861A>C (p.Val287=)
NM_001101426.4(CRPPA):c.864T>C (p.Val288=)
NM_001101426.4(CRPPA):c.865A>G (p.Met289Val)
NM_001101426.4(CRPPA):c.866T>G (p.Met289Arg)
NM_001101426.4(CRPPA):c.868G>A (p.Asp290Asn) rs1784249249
NM_001101426.4(CRPPA):c.869A>G (p.Asp290Gly)
NM_001101426.4(CRPPA):c.872C>A (p.Thr291Lys) rs764380983
NM_001101426.4(CRPPA):c.872C>T (p.Thr291Ile)
NM_001101426.4(CRPPA):c.874_875delinsAG (p.Glu292Arg) rs1583487638
NM_001101426.4(CRPPA):c.874_886del (p.Glu292fs) rs1554305719
NM_001101426.4(CRPPA):c.888A>G (p.Lys296=)
NM_001101426.4(CRPPA):c.895G>C (p.Gly299Arg) rs373890080
NM_001101426.4(CRPPA):c.895G>T (p.Gly299Cys) rs373890080
NM_001101426.4(CRPPA):c.896del (p.Gly299fs)
NM_001101426.4(CRPPA):c.907G>C (p.Glu303Gln)
NM_001101426.4(CRPPA):c.915G>A (p.Val305=) rs1466053365
NM_001101426.4(CRPPA):c.933+1G>A rs1784247205
NM_001101426.4(CRPPA):c.933+5G>C rs1554305652
NM_001101426.4(CRPPA):c.934-14T>A
NM_001101426.4(CRPPA):c.934-16T>C
NM_001101426.4(CRPPA):c.934-4C>A
NM_001101426.4(CRPPA):c.934-5A>G rs886043337
NM_001101426.4(CRPPA):c.934-6T>A
NM_001101426.4(CRPPA):c.945C>T (p.Val315=) rs1554300356
NM_001101426.4(CRPPA):c.963T>C (p.Gly321=)
NM_001101426.4(CRPPA):c.981T>A (p.Leu327=)
NM_001101426.4(CRPPA):c.991A>G (p.Ile331Val) rs886044693
NM_001101426.4(CRPPA):c.992T>C (p.Ile331Thr) rs369141466
NM_001101426.4(CRPPA):c.994T>C (p.Leu332=) rs2128412518
NM_001101426.4(CRPPA):c.999T>A (p.Asp333Glu) rs376909665
NM_001101426.4(CRPPA):c.9C>T (p.Ala3=)
NM_001164508.2(NEB):c.7362C>G (p.Asn2454Lys) rs1057518861
NM_001243766.2(POMGNT1):c.-50-671_-50-663dup rs966546165
NM_001267550.2(TTN):c.101019_101020dup (p.Arg33674fs) rs886041287
NM_001267550.2(TTN):c.[106531+2T>A];[107867delT]
NM_001267550.2(TTN):c.[39547+3A>G];[42151+1G>C]
NM_001267550.2(TTN):c.[42315_42318delGAAA];[67349-2A>C]
NM_001848.2(COL6A1):c.1568_1575+1dup rs2077817384
NM_001848.3(COL6A1):c.1002+11G>A
NM_001848.3(COL6A1):c.1002+13A>G
NM_001848.3(COL6A1):c.1002+13A>T rs1340467004
NM_001848.3(COL6A1):c.1002+14G>T rs775143867
NM_001848.3(COL6A1):c.1002+15A>C
NM_001848.3(COL6A1):c.1002+16T>C rs1569518214
NM_001848.3(COL6A1):c.1002+16T>G
NM_001848.3(COL6A1):c.1002+17A>C rs1343644341
NM_001848.3(COL6A1):c.1002+17A>G
NM_001848.3(COL6A1):c.1002+17A>T rs1343644341
NM_001848.3(COL6A1):c.1002+20A>C
NM_001848.3(COL6A1):c.1002+20A>G
NM_001848.3(COL6A1):c.1002+21_1002+40dup
NM_001848.3(COL6A1):c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGATGGACGGGGAGGGACGAGGAGG rs1569518218
NM_001848.3(COL6A1):c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGG
NM_001848.3(COL6A1):c.1002+5_1002+6insCCGGGGAGGGA rs2077768137
NM_001848.3(COL6A1):c.1002+6_1002+88del rs1556425727
NM_001848.3(COL6A1):c.1002+6_1002+89del
NM_001848.3(COL6A1):c.1002+6_1003-135del rs2123472135
NM_001848.3(COL6A1):c.1002+8G>A rs759134133
NM_001848.3(COL6A1):c.1002+9G>A
NM_001848.3(COL6A1):c.1003-10C>G rs182440627
NM_001848.3(COL6A1):c.1003-11C>T
NM_001848.3(COL6A1):c.1003-15del rs769487412
NM_001848.3(COL6A1):c.1003-1G>A rs886043330
NM_001848.3(COL6A1):c.1003-1G>T rs886043330
NM_001848.3(COL6A1):c.1003-2A>C rs797045477
NM_001848.3(COL6A1):c.1003-2A>G rs797045477
NM_001848.3(COL6A1):c.1003-2del rs1556425835
NM_001848.3(COL6A1):c.1003-3C>G rs1171069767
NM_001848.3(COL6A1):c.1003-4C>A
NM_001848.3(COL6A1):c.1003-8C>G
NM_001848.3(COL6A1):c.1005G>A (p.Gly335=)
NM_001848.3(COL6A1):c.1011G>C (p.Met337Ile)
NM_001848.3(COL6A1):c.1013G>A (p.Gly338Glu) rs794727121
NM_001848.3(COL6A1):c.1021G>T (p.Gly341Cys) rs886043321
NM_001848.3(COL6A1):c.1022G>A (p.Gly341Asp) rs121912935
NM_001848.3(COL6A1):c.1022G>T (p.Gly341Val) rs121912935
NM_001848.3(COL6A1):c.1023C>T (p.Gly341=)
NM_001848.3(COL6A1):c.1024_1032del (p.Leu342_Gly344del) rs398123630
NM_001848.3(COL6A1):c.1027_1056+76del rs2123473096
NM_001848.3(COL6A1):c.1029A>C (p.Pro343=) rs1556425843
NM_001848.3(COL6A1):c.1030G>C (p.Gly344Arg) rs1569518250
NM_001848.3(COL6A1):c.1037A>G (p.Lys346Arg)
NM_001848.3(COL6A1):c.1043C>G (p.Ser348Trp) rs142882745
NM_001848.3(COL6A1):c.1044G>C (p.Ser348=)
NM_001848.3(COL6A1):c.1047C>A (p.Pro349=) rs202227298
NM_001848.3(COL6A1):c.1047C>T (p.Pro349=) rs202227298
NM_001848.3(COL6A1):c.1056+1G>A rs398123631
NM_001848.3(COL6A1):c.1056+1G>C rs398123631
NM_001848.3(COL6A1):c.1056+1G>T rs398123631
NM_001848.3(COL6A1):c.1056+1del rs1556425853
NM_001848.3(COL6A1):c.1056+2T>A
NM_001848.3(COL6A1):c.1056+2T>C rs797044456
NM_001848.3(COL6A1):c.1056+2dup
NM_001848.3(COL6A1):c.1056+3A>C rs2077772542
NM_001848.3(COL6A1):c.1056+4A>C rs886043433
NM_001848.3(COL6A1):c.1056+4A>G rs886043433
NM_001848.3(COL6A1):c.1056+5G>A rs886044511
NM_001848.3(COL6A1):c.1056+5G>T rs886044511
NM_001848.3(COL6A1):c.1056+9C>G
NM_001848.3(COL6A1):c.1068A>T (p.Gly356=) rs1481098445
NM_001848.3(COL6A1):c.1069C>A (p.Pro357Thr) rs762443936
NM_001848.3(COL6A1):c.106G>A (p.Val36Met)
NM_001848.3(COL6A1):c.1074T>C (p.Pro358=) rs2123473427
NM_001848.3(COL6A1):c.1075_1076delinsAA (p.Gly359Asn) rs886042646
NM_001848.3(COL6A1):c.1076G>A (p.Gly359Asp)
NM_001848.3(COL6A1):c.1095_1096inv (p.Ala366Thr)
NM_001848.3(COL6A1):c.10G>A (p.Ala4Thr) rs1603589147
NM_001848.3(COL6A1):c.1100T>C (p.Phe367Ser)
NM_001848.3(COL6A1):c.1111G>A (p.Gly371Arg)
NM_001848.3(COL6A1):c.1112G>A (p.Gly371Glu) rs2077774072
NM_001848.3(COL6A1):c.1117A>C (p.Lys373Gln) rs144677931
NM_001848.3(COL6A1):c.1117A>G (p.Lys373Glu)
NM_001848.3(COL6A1):c.1119+14G>A
NM_001848.3(COL6A1):c.1119+16C>T rs1370050036
NM_001848.3(COL6A1):c.1120-12G>A rs115107397
NM_001848.3(COL6A1):c.1120-12G>T
NM_001848.3(COL6A1):c.1120-13C>T
NM_001848.3(COL6A1):c.1120-13del rs766658998
NM_001848.3(COL6A1):c.1123G>A (p.Glu375Lys)
NM_001848.3(COL6A1):c.1125G>T (p.Glu375Asp)
NM_001848.3(COL6A1):c.1138G>A (p.Gly380Arg)
NM_001848.3(COL6A1):c.1141G>A (p.Glu381Lys)
NM_001848.3(COL6A1):c.1151G>C (p.Arg384Thr) rs2123474648
NM_001848.3(COL6A1):c.1155A>G (p.Pro385=)
NM_001848.3(COL6A1):c.1166G>C (p.Gly389Ala) rs2123474665
NM_001848.3(COL6A1):c.1167A>G (p.Gly389=)
NM_001848.3(COL6A1):c.1179C>A (p.Asp393Glu)
NM_001848.3(COL6A1):c.1182+16G>T rs2123474728
NM_001848.3(COL6A1):c.1182+17C>T
NM_001848.3(COL6A1):c.1182G>A (p.Glu394=) rs1423443362
NM_001848.3(COL6A1):c.1183-15C>T
NM_001848.3(COL6A1):c.1183-18A>C
NM_001848.3(COL6A1):c.1191G>C (p.Pro397=) rs531640667
NM_001848.3(COL6A1):c.1204C>A (p.Pro402Thr) rs983326119
NM_001848.3(COL6A1):c.1206C>T (p.Pro402=)
NM_001848.3(COL6A1):c.1209C>G (p.Pro403=) rs763249073
NM_001848.3(COL6A1):c.1210G>A (p.Gly404Arg)
NM_001848.3(COL6A1):c.1224G>T (p.Glu408Asp) rs772775334
NM_001848.3(COL6A1):c.1226C>A (p.Ala409Glu) rs765826390
NM_001848.3(COL6A1):c.1230C>A (p.Gly410=) rs147622862
NM_001848.3(COL6A1):c.1236+5G>C rs376327142
NM_001848.3(COL6A1):c.1237-5C>T
NM_001848.3(COL6A1):c.1239G>T (p.Gly413=) rs1245856941
NM_001848.3(COL6A1):c.1263C>T (p.Pro421=)
NM_001848.3(COL6A1):c.1266G>A (p.Gly422=)
NM_001848.3(COL6A1):c.126G>A (p.Leu42=)
NM_001848.3(COL6A1):c.1270C>T (p.Arg424Trp) rs1034465336
NM_001848.3(COL6A1):c.1272+12A>G
NM_001848.3(COL6A1):c.1272+13G>A rs2123475135
NM_001848.3(COL6A1):c.1272+3G>A rs2123475120
NM_001848.3(COL6A1):c.1272G>A (p.Arg424=)
NM_001848.3(COL6A1):c.1273-12C>G
NM_001848.3(COL6A1):c.1273-18C>G
NM_001848.3(COL6A1):c.1276G>A (p.Gly426Ser) rs2077783907
NM_001848.3(COL6A1):c.1281T>C (p.Pro427=) rs2123475470
NM_001848.3(COL6A1):c.1287G>T (p.Glu429Asp)
NM_001848.3(COL6A1):c.130_133dup (p.Ser45fs) rs2077714727
NM_001848.3(COL6A1):c.1317G>A (p.Arg439=) rs1569518379
NM_001848.3(COL6A1):c.1318G>T (p.Gly440Ter) rs2123475539
NM_001848.3(COL6A1):c.1330G>C (p.Asp444His) rs778234022
NM_001848.3(COL6A1):c.1335+2_1335+3del
NM_001848.3(COL6A1):c.1335+3G>A
NM_001848.3(COL6A1):c.1335+7C>T rs2123475569
NM_001848.3(COL6A1):c.1335+9C>T
NM_001848.3(COL6A1):c.1336-16G>T
NM_001848.3(COL6A1):c.1336-19dup
NM_001848.3(COL6A1):c.1336G>A (p.Gly446Ser)
NM_001848.3(COL6A1):c.1342G>A (p.Ala448Thr) rs886057153
NM_001848.3(COL6A1):c.1351C>A (p.Gln451Lys) rs762989478
NM_001848.3(COL6A1):c.1352A>T (p.Gln451Leu)
NM_001848.3(COL6A1):c.135T>C (p.Ser45=)
NM_001848.3(COL6A1):c.1367G>A (p.Arg456Lys)
NM_001848.3(COL6A1):c.1378G>T (p.Val460Phe) rs375452881
NM_001848.3(COL6A1):c.1398+18G>A
NM_001848.3(COL6A1):c.1398+2T>G rs1569518481
NM_001848.3(COL6A1):c.1398G>A (p.Pro466=) rs886042955
NM_001848.3(COL6A1):c.1399-10C>G
NM_001848.3(COL6A1):c.1399-17T>C
NM_001848.3(COL6A1):c.13C>T (p.Arg5Cys) rs1235513102
NM_001848.3(COL6A1):c.1400G>A (p.Gly467Asp)
NM_001848.3(COL6A1):c.1401C>T (p.Gly467=)
NM_001848.3(COL6A1):c.1414A>C (p.Ile472Leu) rs773660427
NM_001848.3(COL6A1):c.1416C>T (p.Ile472=)
NM_001848.3(COL6A1):c.1417G>A (p.Gly473Arg) rs766667205
NM_001848.3(COL6A1):c.1425del (p.Gly476fs) rs878854398
NM_001848.3(COL6A1):c.1431C>T (p.Tyr477=)
NM_001848.3(COL6A1):c.1438G>A (p.Asp480Asn)
NM_001848.3(COL6A1):c.1446T>C (p.Gly482=)
NM_001848.3(COL6A1):c.1447C>T (p.Pro483Ser) rs756017426
NM_001848.3(COL6A1):c.1461+10A>T
NM_001848.3(COL6A1):c.1461+7C>T rs994516309
NM_001848.3(COL6A1):c.1462-12C>T
NM_001848.3(COL6A1):c.1465del (p.Ala489fs) rs797044458
NM_001848.3(COL6A1):c.1475C>A (p.Ala492Asp) rs117340427
NM_001848.3(COL6A1):c.1477C>A (p.Pro493Thr) rs760275915
NM_001848.3(COL6A1):c.1483C>T (p.Pro495Ser) rs1569518677
NM_001848.3(COL6A1):c.1485T>C (p.Pro495=)
NM_001848.3(COL6A1):c.148del (p.Ala49_Leu50insTer) rs1556423728
NM_001848.3(COL6A1):c.1494C>A (p.Pro498=)
NM_001848.3(COL6A1):c.14G>A (p.Arg5His) rs1556423460
NM_001848.3(COL6A1):c.1506G>A (p.Pro502=) rs139987124
NM_001848.3(COL6A1):c.1506G>C (p.Pro502=) rs139987124
NM_001848.3(COL6A1):c.1508G>A (p.Gly503Glu) rs1556428597
NM_001848.3(COL6A1):c.1516G>A (p.Gly506Ser) rs2123482543
NM_001848.3(COL6A1):c.1524+13C>T
NM_001848.3(COL6A1):c.1524+18C>T
NM_001848.3(COL6A1):c.1524+19G>A rs2276256
NM_001848.3(COL6A1):c.1524+19G>C rs2276256
NM_001848.3(COL6A1):c.1524+1G>A
NM_001848.3(COL6A1):c.1525-18G>T
NM_001848.3(COL6A1):c.1525-20C>T
NM_001848.3(COL6A1):c.1533C>T (p.Asp511=)
NM_001848.3(COL6A1):c.1537C>T (p.Pro513Ser) rs1202320827
NM_001848.3(COL6A1):c.1555_1556delinsAG (p.Glu519Arg)
NM_001848.3(COL6A1):c.1567G>A (p.Gly523Ser) rs2123483067
NM_001848.3(COL6A1):c.1570T>C (p.Phe524Leu) rs2077817452
NM_001848.3(COL6A1):c.1575+11G>A
NM_001848.3(COL6A1):c.1575+1G>A rs1002726737
NM_001848.3(COL6A1):c.1575+2_1575+3insCTT rs758434455
NM_001848.3(COL6A1):c.1575+2dup rs758434455
NM_001848.3(COL6A1):c.1576-1G>A rs112814811
NM_001848.3(COL6A1):c.1576-2A>G
NM_001848.3(COL6A1):c.1576-2_1576-1del rs1569518725
NM_001848.3(COL6A1):c.1577G>T (p.Gly526Val) rs121912934
NM_001848.3(COL6A1):c.1591del (p.Arg531fs) rs2077819120
NM_001848.3(COL6A1):c.159G>A (p.Lys53=)
NM_001848.3(COL6A1):c.15T>A (p.Arg5=) rs2123459083
NM_001848.3(COL6A1):c.1603G>A (p.Gly535Arg) rs764556767
NM_001848.3(COL6A1):c.1611+10C>T
NM_001848.3(COL6A1):c.1611C>A (p.Asn537Lys) rs200023632
NM_001848.3(COL6A1):c.1612-11C>T rs370801259
NM_001848.3(COL6A1):c.1612-13C>T
NM_001848.3(COL6A1):c.1612-3C>T rs767913216
NM_001848.3(COL6A1):c.1612-4G>A
NM_001848.3(COL6A1):c.1614C>T (p.Gly538=)
NM_001848.3(COL6A1):c.1619A>G (p.Lys540Arg) rs1603593300
NM_001848.3(COL6A1):c.1640G>A (p.Gly547Glu)
NM_001848.3(COL6A1):c.1641_1642del (p.Asp548fs) rs1569518771
NM_001848.3(COL6A1):c.1642G>A (p.Asp548Asn)
NM_001848.3(COL6A1):c.1645G>A (p.Glu549Lys)
NM_001848.3(COL6A1):c.1654G>A (p.Ala552Thr) rs1397088680
NM_001848.3(COL6A1):c.1654G>C (p.Ala552Pro)
NM_001848.3(COL6A1):c.1657G>A (p.Gly553Arg) rs2077822326
NM_001848.3(COL6A1):c.1659_1667dup (p.Pro555_Asp557dup) rs2123484082
NM_001848.3(COL6A1):c.1662C>T (p.Asp554=)
NM_001848.3(COL6A1):c.1671C>G (p.Asp557Glu)
NM_001848.3(COL6A1):c.1674+15G>C rs749423625
NM_001848.3(COL6A1):c.1674+1G>A rs2123484131
NM_001848.3(COL6A1):c.1674+3_1674+6del
NM_001848.3(COL6A1):c.1674+7G>A
NM_001848.3(COL6A1):c.1675-5T>G
NM_001848.3(COL6A1):c.1683C>T (p.Asp561=) rs1603593356
NM_001848.3(COL6A1):c.1685T>C (p.Ile562Thr) rs775182845
NM_001848.3(COL6A1):c.1719C>T (p.Tyr573=) rs1013945029
NM_001848.3(COL6A1):c.1721G>C (p.Arg574Pro)
NM_001848.3(COL6A1):c.1722G>A (p.Arg574=) rs1004303947
NM_001848.3(COL6A1):c.1724dup (p.Pro576fs) rs2077824006
NM_001848.3(COL6A1):c.1730A>C (p.Glu577Ala)
NM_001848.3(COL6A1):c.1731G>C (p.Glu577Asp) rs755214430
NM_001848.3(COL6A1):c.1738del (p.Gln580fs) rs2123484530
NM_001848.3(COL6A1):c.1739A>G (p.Gln580Arg) rs1359915404
NM_001848.3(COL6A1):c.1740+14G>T
NM_001848.3(COL6A1):c.1740+17G>A rs200299050
NM_001848.3(COL6A1):c.1740+18G>A rs376726434
NM_001848.3(COL6A1):c.1740+18G>T rs376726434
NM_001848.3(COL6A1):c.1740+19G>A
NM_001848.3(COL6A1):c.1740+3G>A
NM_001848.3(COL6A1):c.1741-14C>T rs201088377
NM_001848.3(COL6A1):c.1755C>T (p.His585=)
NM_001848.3(COL6A1):c.1760G>A (p.Gly587Glu) rs1188795991
NM_001848.3(COL6A1):c.1763C>A (p.Pro588Gln)
NM_001848.3(COL6A1):c.1769G>A (p.Gly590Glu)
NM_001848.3(COL6A1):c.1776+7G>A
NM_001848.3(COL6A1):c.1777-20C>G
NM_001848.3(COL6A1):c.1777-8C>T
NM_001848.3(COL6A1):c.1783G>A (p.Glu595Lys) rs367650141
NM_001848.3(COL6A1):c.178G>T (p.Asp60Tyr) rs2123460260
NM_001848.3(COL6A1):c.17C>G (p.Ala6Gly)
NM_001848.3(COL6A1):c.1801A>G (p.Met601Val)
NM_001848.3(COL6A1):c.1813+12T>C
NM_001848.3(COL6A1):c.1813+13G>C
NM_001848.3(COL6A1):c.1813+20C>T
NM_001848.3(COL6A1):c.1813+2_1813+3del rs2077836463
NM_001848.3(COL6A1):c.1813+3_1813+6del
NM_001848.3(COL6A1):c.1814-15_1814-12del rs1399956018
NM_001848.3(COL6A1):c.1814-6C>G rs182804464
NM_001848.3(COL6A1):c.1814-6C>T
NM_001848.3(COL6A1):c.1814-7_1814-6delinsAA rs2077839436
NM_001848.3(COL6A1):c.1816T>A (p.Cys606Ser)
NM_001848.3(COL6A1):c.1819T>C (p.Cys607Arg)
NM_001848.3(COL6A1):c.181A>G (p.Lys61Glu) rs1439633596
NM_001848.3(COL6A1):c.1822+10A>G
NM_001848.3(COL6A1):c.1822+11G>A rs566601241
NM_001848.3(COL6A1):c.1822+11G>T rs566601241
NM_001848.3(COL6A1):c.1822+14del
NM_001848.3(COL6A1):c.1822+9C>G rs373566530
NM_001848.3(COL6A1):c.1822+9C>T
NM_001848.3(COL6A1):c.1823-12C>T
NM_001848.3(COL6A1):c.1823-13C>T rs571173076
NM_001848.3(COL6A1):c.1823-14G>A
NM_001848.3(COL6A1):c.1823-1G>T rs1569519030
NM_001848.3(COL6A1):c.1827C>T (p.Cys609=)
NM_001848.3(COL6A1):c.1830G>A (p.Lys610=)
NM_001848.3(COL6A1):c.1835G>T (p.Gly612Val) rs1222901174
NM_001848.3(COL6A1):c.1837C>T (p.Pro613Ser)
NM_001848.3(COL6A1):c.1840A>G (p.Ile614Val)
NM_001848.3(COL6A1):c.1842C>T (p.Ile614=)
NM_001848.3(COL6A1):c.1843G>A (p.Asp615Asn)
NM_001848.3(COL6A1):c.1845CCT[1] (p.Leu617del) rs1085307560
NM_001848.3(COL6A1):c.1846C>T (p.Leu616Phe) rs1423091612
NM_001848.3(COL6A1):c.1855G>T (p.Val619Leu) rs150938324
NM_001848.3(COL6A1):c.185T>G (p.Val62Gly) rs1603589342
NM_001848.3(COL6A1):c.1867_1868del (p.Ser623fs) rs2123488904
NM_001848.3(COL6A1):c.1868C>G (p.Ser623Ter)
NM_001848.3(COL6A1):c.1877T>C (p.Ile626Thr) rs781626943
NM_001848.3(COL6A1):c.1887G>A (p.Gln629=) rs1447613750
NM_001848.3(COL6A1):c.1911C>A (p.Phe637Leu) rs552239546
NM_001848.3(COL6A1):c.1914C>T (p.Val638=) rs867670442
NM_001848.3(COL6A1):c.1939C>T (p.Arg647Trp)
NM_001848.3(COL6A1):c.1950G>A (p.Leu650=) rs375448277
NM_001848.3(COL6A1):c.1951G>T (p.Val651Phe)
NM_001848.3(COL6A1):c.1956+11G>A
NM_001848.3(COL6A1):c.1956+16G>T
NM_001848.3(COL6A1):c.1956+19C>T
NM_001848.3(COL6A1):c.1956+20G>A
NM_001848.3(COL6A1):c.1957-8T>A
NM_001848.3(COL6A1):c.1959C>G (p.Phe653Leu) rs112104768
NM_001848.3(COL6A1):c.1959C>T (p.Phe653=) rs112104768
NM_001848.3(COL6A1):c.1960G>C (p.Glu654Gln) rs375318905
NM_001848.3(COL6A1):c.1963_1971del (p.Pro655_Gln657del)
NM_001848.3(COL6A1):c.1973C>T (p.Ser658Leu) rs1260709010
NM_001848.3(COL6A1):c.1977C>G (p.Tyr659Ter) rs121912937
NM_001848.3(COL6A1):c.1979C>A (p.Ala660Glu)
NM_001848.3(COL6A1):c.1980G>A (p.Ala660=) rs370780432
NM_001848.3(COL6A1):c.1982G>C (p.Gly661Ala) rs771702139
NM_001848.3(COL6A1):c.1987G>A (p.Val663Met)
NM_001848.3(COL6A1):c.1989G>A (p.Val663=) rs760624194
NM_001848.3(COL6A1):c.1991A>C (p.Gln664Pro)
NM_001848.3(COL6A1):c.19C>A (p.Leu7Met)
NM_001848.3(COL6A1):c.1A>T (p.Met1Leu) rs2123459059
NM_001848.3(COL6A1):c.2019C>G (p.His673Gln) rs141424786
NM_001848.3(COL6A1):c.2022G>A (p.Val674=) rs764099825
NM_001848.3(COL6A1):c.2024G>C (p.Ser675Thr) rs2077848878
NM_001848.3(COL6A1):c.2030G>T (p.Arg677Leu) rs373731596
NM_001848.3(COL6A1):c.2035C>G (p.Pro679Ala)
NM_001848.3(COL6A1):c.2050G>A (p.Val684Met) rs138312247
NM_001848.3(COL6A1):c.2050G>T (p.Val684Leu) rs138312247
NM_001848.3(COL6A1):c.2052G>A (p.Val684=)
NM_001848.3(COL6A1):c.2052G>T (p.Val684=) rs1219591102
NM_001848.3(COL6A1):c.2063A>C (p.Lys688Thr)
NM_001848.3(COL6A1):c.2066+12A>C
NM_001848.3(COL6A1):c.2066+13C>T
NM_001848.3(COL6A1):c.2066+15C>A rs201407082
NM_001848.3(COL6A1):c.2066+15C>T rs201407082
NM_001848.3(COL6A1):c.2066+16G>A
NM_001848.3(COL6A1):c.2066+16G>T
NM_001848.3(COL6A1):c.2066+2T>C rs2077849329
NM_001848.3(COL6A1):c.2067-15C>T
NM_001848.3(COL6A1):c.2075A>G (p.Lys692Arg) rs2123490353
NM_001848.3(COL6A1):c.2077A>C (p.Ser693Arg)
NM_001848.3(COL6A1):c.2093C>T (p.Ala698Val) rs2123490392
NM_001848.3(COL6A1):c.2094G>A (p.Ala698=)
NM_001848.3(COL6A1):c.2108C>T (p.Thr703Met)
NM_001848.3(COL6A1):c.2116G>T (p.Ala706Ser)
NM_001848.3(COL6A1):c.2118C>T (p.Ala706=) rs2077850957
NM_001848.3(COL6A1):c.211G>A (p.Asp71Asn)
NM_001848.3(COL6A1):c.2121G>T (p.Leu707=)
NM_001848.3(COL6A1):c.2131C>T (p.Arg711Trp)
NM_001848.3(COL6A1):c.2134G>C (p.Asp712His)
NM_001848.3(COL6A1):c.2148G>C (p.Pro716=) rs780032842
NM_001848.3(COL6A1):c.2157G>C (p.Pro719=) rs377152990
NM_001848.3(COL6A1):c.2161A>C (p.Asn721His)
NM_001848.3(COL6A1):c.2163C>A (p.Asn721Lys)
NM_001848.3(COL6A1):c.2169C>T (p.Ile723=)
NM_001848.3(COL6A1):c.2170G>A (p.Ala724Thr)
NM_001848.3(COL6A1):c.2190G>T (p.Gly730=)
NM_001848.3(COL6A1):c.2193C>T (p.Arg731=) rs1025417641
NM_001848.3(COL6A1):c.2202_2213dup (p.Gln735_Thr738dup) rs2123490613
NM_001848.3(COL6A1):c.2220G>C (p.Pro740=) rs138976133
NM_001848.3(COL6A1):c.2220G>T (p.Pro740=) rs138976133
NM_001848.3(COL6A1):c.2226C>T (p.Asn742=)
NM_001848.3(COL6A1):c.2227G>C (p.Val743Leu)
NM_001848.3(COL6A1):c.2231T>C (p.Leu744Pro)
NM_001848.3(COL6A1):c.223G>C (p.Asp75His)
NM_001848.3(COL6A1):c.2250+11C>T
NM_001848.3(COL6A1):c.2250+9G>A rs1342014969
NM_001848.3(COL6A1):c.2250G>C (p.Gln750His)
NM_001848.3(COL6A1):c.2251-11_2251-8del
NM_001848.3(COL6A1):c.2251-16C>T rs1243894570
NM_001848.3(COL6A1):c.225C>G (p.Asp75Glu)
NM_001848.3(COL6A1):c.2266A>G (p.Ile756Val)
NM_001848.3(COL6A1):c.227+16C>T
NM_001848.3(COL6A1):c.2285T>C (p.Phe762Ser) rs886042688
NM_001848.3(COL6A1):c.2327G>A (p.Gly776Asp)
NM_001848.3(COL6A1):c.2328C>T (p.Gly776=) rs1434098396
NM_001848.3(COL6A1):c.2329C>T (p.Leu777=)
NM_001848.3(COL6A1):c.2330_2351dup (p.Leu786fs) rs2123490954
NM_001848.3(COL6A1):c.2333C>T (p.Ala778Val)
NM_001848.3(COL6A1):c.2339C>A (p.Ser780Tyr) rs2077853664
NM_001848.3(COL6A1):c.2344G>A (p.Gly782Ser)
NM_001848.3(COL6A1):c.234C>A (p.Tyr78Ter)
NM_001848.3(COL6A1):c.2358C>T (p.Leu786=) rs886042391
NM_001848.3(COL6A1):c.235C>T (p.Arg79Cys)
NM_001848.3(COL6A1):c.2360C>T (p.Ser787Leu) rs1203093809
NM_001848.3(COL6A1):c.2364G>A (p.Leu788=) rs1603594564
NM_001848.3(COL6A1):c.2407A>C (p.Lys803Gln)
NM_001848.3(COL6A1):c.2430del (p.Ile809_Cys810insTer) rs2077854422
NM_001848.3(COL6A1):c.2431_2434+36del rs759918870
NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGAGCAGTCCCAGATCTGCATAGGTGCGCATGGGGCC rs2123491106
NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGAGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCC rs1569519143
NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGGGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGCGGGGCCGCCCAGGGCCGTCCCAGATCTGCGTAGGTGCACGCGGGGCC
NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGGGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGT rs1569519146
NM_001848.3(COL6A1):c.2434+14_2434+15inv
NM_001848.3(COL6A1):c.2434+15_2434+54del rs1064795349
NM_001848.3(COL6A1):c.2434+15_2434+94del rs1603594606
NM_001848.3(COL6A1):c.2434+16C>G rs2123491221
NM_001848.3(COL6A1):c.2434+19_2434+20insAGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCCACCCGGGCAGTCCCAGATCTGCGTAGGTGCAC rs2123491242
NM_001848.3(COL6A1):c.2434+45_2434+124del rs2123491228
NM_001848.3(COL6A1):c.2434+45_2434+84del
NM_001848.3(COL6A1):c.2434+4C>T rs202147670
NM_001848.3(COL6A1):c.2434+5G>T rs1360722232
NM_001848.3(COL6A1):c.2434+7A>C rs769385161
NM_001848.3(COL6A1):c.2434+8T>A rs1227258893
NM_001848.3(COL6A1):c.2434+8T>C
NM_001848.3(COL6A1):c.2434+8T>G
NM_001848.3(COL6A1):c.2434+9G>T
NM_001848.3(COL6A1):c.2435-13T>C rs746838395
NM_001848.3(COL6A1):c.2435-13T>G rs746838395
NM_001848.3(COL6A1):c.2435-2A>G rs940473416
NM_001848.3(COL6A1):c.2438A>G (p.Lys813Arg)
NM_001848.3(COL6A1):c.2440A>C (p.Lys814Gln) rs2123491909
NM_001848.3(COL6A1):c.2450A>G (p.Asp817Gly)
NM_001848.3(COL6A1):c.2457C>T (p.Thr819=) rs1182297662
NM_001848.3(COL6A1):c.245G>A (p.Arg82Gln)
NM_001848.3(COL6A1):c.2460C>A (p.Cys820Ter) rs2077858751
NM_001848.3(COL6A1):c.2464+14C>T
NM_001848.3(COL6A1):c.2464+15G>A rs753573923
NM_001848.3(COL6A1):c.2464+1G>A rs113290209
NM_001848.3(COL6A1):c.2475C>T (p.Ser825=) rs1009381380
NM_001848.3(COL6A1):c.2476T>A (p.Ser826Thr) rs1427066240
NM_001848.3(COL6A1):c.2483C>A (p.Ala828Asp)
NM_001848.3(COL6A1):c.2487C>T (p.Asp829=)
NM_001848.3(COL6A1):c.2511C>T (p.Ser837=)
NM_001848.3(COL6A1):c.2513C>T (p.Ala838Val) rs1486288129
NM_001848.3(COL6A1):c.2545A>G (p.Lys849Glu)
NM_001848.3(COL6A1):c.2548C>T (p.Arg850Cys)
NM_001848.3(COL6A1):c.2551_2562del (p.Phe851_Arg854del)
NM_001848.3(COL6A1):c.2554G>A (p.Ala852Thr)
NM_001848.3(COL6A1):c.2554G>C (p.Ala852Pro) rs748327110
NM_001848.3(COL6A1):c.2565G>C (p.Leu855=)
NM_001848.3(COL6A1):c.2566G>A (p.Ala856Thr)
NM_001848.3(COL6A1):c.2572C>T (p.Arg858Cys)
NM_001848.3(COL6A1):c.2580C>T (p.Leu860=) rs2123492588
NM_001848.3(COL6A1):c.2586G>A (p.Ala862=)
NM_001848.3(COL6A1):c.2595G>A (p.Thr865=) rs367832752
NM_001848.3(COL6A1):c.2595G>C (p.Thr865=) rs367832752
NM_001848.3(COL6A1):c.2607C>T (p.His869=)
NM_001848.3(COL6A1):c.2611G>C (p.Val871Leu)
NM_001848.3(COL6A1):c.2621C>T (p.Ala874Val)
NM_001848.3(COL6A1):c.2623G>A (p.Val875Met)
NM_001848.3(COL6A1):c.2638G>A (p.Gly880Ser) rs544927344
NM_001848.3(COL6A1):c.2638G>C (p.Gly880Arg)
NM_001848.3(COL6A1):c.2640C>T (p.Gly880=)
NM_001848.3(COL6A1):c.2654G>A (p.Arg885His)
NM_001848.3(COL6A1):c.2659G>A (p.Glu887Lys)
NM_001848.3(COL6A1):c.2663G>A (p.Arg888Gln) rs138351067
NM_001848.3(COL6A1):c.2663G>C (p.Arg888Pro) rs138351067
NM_001848.3(COL6A1):c.2666C>T (p.Ala889Val)
NM_001848.3(COL6A1):c.2672T>C (p.Leu891Pro) rs2077862405
NM_001848.3(COL6A1):c.267C>T (p.Gly89=)
NM_001848.3(COL6A1):c.2680C>T (p.Leu894=) rs1409263435
NM_001848.3(COL6A1):c.268G>A (p.Ala90Thr)
NM_001848.3(COL6A1):c.2698C>A (p.Leu900Met) rs1226903258
NM_001848.3(COL6A1):c.269C>G (p.Ala90Gly) rs766517983
NM_001848.3(COL6A1):c.2702C>G (p.Ala901Gly)
NM_001848.3(COL6A1):c.2703C>T (p.Ala901=)
NM_001848.3(COL6A1):c.2705G>A (p.Ser902Asn) rs757422397
NM_001848.3(COL6A1):c.2713G>T (p.Asp905Tyr)
NM_001848.3(COL6A1):c.2723A>G (p.Asp908Gly)
NM_001848.3(COL6A1):c.2731A>G (p.Asn911Asp)
NM_001848.3(COL6A1):c.2731_2733del (p.Asn911del) rs2123492948
NM_001848.3(COL6A1):c.2734G>A (p.Asp912Asn)
NM_001848.3(COL6A1):c.2751C>G (p.Asn917Lys)
NM_001848.3(COL6A1):c.2766T>C (p.Tyr922=) rs889975432
NM_001848.3(COL6A1):c.2768T>G (p.Val923Gly) rs755340450
NM_001848.3(COL6A1):c.2783G>A (p.Arg928His) rs144671871
NM_001848.3(COL6A1):c.2783G>T (p.Arg928Leu) rs144671871
NM_001848.3(COL6A1):c.2786A>C (p.Glu929Ala)
NM_001848.3(COL6A1):c.278A>G (p.Tyr93Cys)
NM_001848.3(COL6A1):c.27C>G (p.Pro9=)
NM_001848.3(COL6A1):c.2807AGA[1] (p.Lys937del) rs886043457
NM_001848.3(COL6A1):c.2808_2809delinsAC (p.Lys937Gln)
NM_001848.3(COL6A1):c.2821C>G (p.Leu941Val)
NM_001848.3(COL6A1):c.2821C>T (p.Leu941Phe) rs147882179
NM_001848.3(COL6A1):c.2840C>T (p.Ser947Leu)
NM_001848.3(COL6A1):c.2846G>A (p.Gly949Asp)
NM_001848.3(COL6A1):c.2847C>T (p.Gly949=)
NM_001848.3(COL6A1):c.2857G>T (p.Ala953Ser) rs150378645
NM_001848.3(COL6A1):c.285C>G (p.Asp95Glu) rs145811554
NM_001848.3(COL6A1):c.2873C>A (p.Ala958Asp) rs763228065
NM_001848.3(COL6A1):c.2873C>T (p.Ala958Val)
NM_001848.3(COL6A1):c.2874C>T (p.Ala958=) rs769441014
NM_001848.3(COL6A1):c.288G>A (p.Glu96=)
NM_001848.3(COL6A1):c.2911G>C (p.Val971Leu) rs769795690
NM_001848.3(COL6A1):c.2911G>T (p.Val971Leu) rs769795690
NM_001848.3(COL6A1):c.2927G>A (p.Arg976His) rs753485651
NM_001848.3(COL6A1):c.2930A>T (p.Gln977Leu)
NM_001848.3(COL6A1):c.2941C>A (p.Pro981Thr) rs1569519253
NM_001848.3(COL6A1):c.2946C>G (p.His982Gln)
NM_001848.3(COL6A1):c.2965G>A (p.Gly989Ser) rs138652066
NM_001848.3(COL6A1):c.2972C>T (p.Thr991Met)
NM_001848.3(COL6A1):c.2973G>A (p.Thr991=)
NM_001848.3(COL6A1):c.2975C>T (p.Ala992Val) rs1316734507
NM_001848.3(COL6A1):c.2976C>G (p.Ala992=)
NM_001848.3(COL6A1):c.2977G>A (p.Glu993Lys)
NM_001848.3(COL6A1):c.2985C>T (p.Asp995=) rs759217203
NM_001848.3(COL6A1):c.2989G>T (p.Ala997Ser)
NM_001848.3(COL6A1):c.2995G>A (p.Gly999Ser)
NM_001848.3(COL6A1):c.2996G>A (p.Gly999Asp) rs1603595132
NM_001848.3(COL6A1):c.2998G>A (p.Glu1000Lys) rs201456885
NM_001848.3(COL6A1):c.3000G>A (p.Glu1000=)
NM_001848.3(COL6A1):c.3006C>A (p.His1002Gln) rs1180948133
NM_001848.3(COL6A1):c.3007C>T (p.Leu1003=) rs2077865473
NM_001848.3(COL6A1):c.3014G>A (p.Arg1005His) rs376999117
NM_001848.3(COL6A1):c.3014G>C (p.Arg1005Pro)
NM_001848.3(COL6A1):c.3016G>A (p.Val1006Ile)
NM_001848.3(COL6A1):c.3042C>A (p.Arg1014=)
NM_001848.3(COL6A1):c.3042C>T (p.Arg1014=)
NM_001848.3(COL6A1):c.3058_3061del (p.Thr1020fs) rs766289958
NM_001848.3(COL6A1):c.305G>T (p.Gly102Val)
NM_001848.3(COL6A1):c.3060A>G (p.Thr1020=) rs953326229
NM_001848.3(COL6A1):c.3069G>A (p.Arg1023=)
NM_001848.3(COL6A1):c.310_311del (p.Thr104fs)
NM_001848.3(COL6A1):c.310dup (p.Thr104fs)
NM_001848.3(COL6A1):c.314G>A (p.Arg105His)
NM_001848.3(COL6A1):c.314G>T (p.Arg105Leu) rs754591267
NM_001848.3(COL6A1):c.316A>G (p.Met106Val) rs1365404018
NM_001848.3(COL6A1):c.320C>T (p.Pro107Leu)
NM_001848.3(COL6A1):c.334G>T (p.Ala112Ser)
NM_001848.3(COL6A1):c.340A>C (p.Lys114Gln)
NM_001848.3(COL6A1):c.344G>A (p.Ser115Asn) rs372627181
NM_001848.3(COL6A1):c.344G>C (p.Ser115Thr)
NM_001848.3(COL6A1):c.354C>T (p.Asp118=) rs1569517713
NM_001848.3(COL6A1):c.356C>A (p.Ala119Glu)
NM_001848.3(COL6A1):c.362A>G (p.Lys121Arg) rs121912936
NM_001848.3(COL6A1):c.36G>C (p.Leu12=) rs2123459117
NM_001848.3(COL6A1):c.375G>C (p.Lys125Asn) rs1603589594
NM_001848.3(COL6A1):c.377G>T (p.Gly126Val) rs1300015385
NM_001848.3(COL6A1):c.387C>A (p.Thr129=) rs377140588
NM_001848.3(COL6A1):c.387C>T (p.Thr129=)
NM_001848.3(COL6A1):c.388G>A (p.Asp130Asn) rs1235398371
NM_001848.3(COL6A1):c.402G>C (p.Lys134Asn)
NM_001848.3(COL6A1):c.40G>A (p.Ala14Thr) rs1454397058
NM_001848.3(COL6A1):c.411G>A (p.Leu137=)
NM_001848.3(COL6A1):c.417G>A (p.Gln139=)
NM_001848.3(COL6A1):c.424G>A (p.Val142Met) rs144282452
NM_001848.3(COL6A1):c.428+10C>T rs1437662111
NM_001848.3(COL6A1):c.428+11C>T
NM_001848.3(COL6A1):c.428+14_428+15delinsGA
NM_001848.3(COL6A1):c.428+1G>A rs1569517717
NM_001848.3(COL6A1):c.428+5G>A rs1603589628
NM_001848.3(COL6A1):c.429-11C>T
NM_001848.3(COL6A1):c.429-13C>A
NM_001848.3(COL6A1):c.429-15C>T
NM_001848.3(COL6A1):c.429-17del rs2123465809
NM_001848.3(COL6A1):c.429-19G>A rs741956
NM_001848.3(COL6A1):c.429-19G>T
NM_001848.3(COL6A1):c.445G>A (p.Glu149Lys)
NM_001848.3(COL6A1):c.446A>T (p.Glu149Val) rs2077739763
NM_001848.3(COL6A1):c.44G>T (p.Cys15Phe)
NM_001848.3(COL6A1):c.46T>C (p.Trp16Arg)
NM_001848.3(COL6A1):c.472G>A (p.Asp158Asn)
NM_001848.3(COL6A1):c.475G>A (p.Gly159Arg) rs1471465037
NM_001848.3(COL6A1):c.477G>T (p.Gly159=)
NM_001848.3(COL6A1):c.490G>A (p.Gly164Ser)
NM_001848.3(COL6A1):c.497A>G (p.Lys166Arg) rs980266782
NM_001848.3(COL6A1):c.503C>T (p.Pro168Leu)
NM_001848.3(COL6A1):c.509G>C (p.Gly170Ala) rs1309872535
NM_001848.3(COL6A1):c.50_51del (p.Thr17fs) rs747419878
NM_001848.3(COL6A1):c.513G>C (p.Gly171=) rs1276849352
NM_001848.3(COL6A1):c.517G>A (p.Glu173Lys)
NM_001848.3(COL6A1):c.518A>T (p.Glu173Val) rs1385535913
NM_001848.3(COL6A1):c.525T>A (p.Ala175=) rs761552446
NM_001848.3(COL6A1):c.535G>A (p.Ala179Thr) rs2077740453
NM_001848.3(COL6A1):c.541C>T (p.His181Tyr) rs1556424938
NM_001848.3(COL6A1):c.543C>G (p.His181Gln)
NM_001848.3(COL6A1):c.548G>C (p.Gly183Ala) rs766184155
NM_001848.3(COL6A1):c.549C>A (p.Gly183=) rs398123636
NM_001848.3(COL6A1):c.550G>A (p.Val184Ile)
NM_001848.3(COL6A1):c.554_555del (p.Lys185fs) rs1377090546
NM_001848.3(COL6A1):c.555_557del (p.Lys185_Val186delinsAsn)
NM_001848.3(COL6A1):c.559T>G (p.Phe187Val)
NM_001848.3(COL6A1):c.564G>A (p.Ser188=)
NM_001848.3(COL6A1):c.56_69dup (p.Glu24fs) rs1603589162
NM_001848.3(COL6A1):c.571A>G (p.Ile191Val) rs1273238821
NM_001848.3(COL6A1):c.57G>T (p.Ala19=)
NM_001848.3(COL6A1):c.580G>A (p.Asp194Asn)
NM_001848.3(COL6A1):c.583C>T (p.His195Tyr) rs2077740811
NM_001848.3(COL6A1):c.588+12_588+13delinsTA rs2123466169
NM_001848.3(COL6A1):c.588+12_588+13insAC rs1556424960
NM_001848.3(COL6A1):c.588+16C>G
NM_001848.3(COL6A1):c.588+17_588+18insA
NM_001848.3(COL6A1):c.588+18C>T
NM_001848.3(COL6A1):c.588+18_588+19dup rs111710378
NM_001848.3(COL6A1):c.588+19del rs111710378
NM_001848.3(COL6A1):c.588+19dup rs111710378
NM_001848.3(COL6A1):c.589-20A>C
NM_001848.3(COL6A1):c.589-3C>T rs1288681930
NM_001848.3(COL6A1):c.589-8G>A
NM_001848.3(COL6A1):c.589G>C (p.Glu197Gln)
NM_001848.3(COL6A1):c.58C>T (p.Gln20Ter) rs1603589167
NM_001848.3(COL6A1):c.594G>C (p.Pro198=) rs376592866
NM_001848.3(COL6A1):c.603C>T (p.Ser201=)
NM_001848.3(COL6A1):c.604A>G (p.Ile202Val)
NM_001848.3(COL6A1):c.606C>T (p.Ile202=)
NM_001848.3(COL6A1):c.61G>C (p.Asp21His)
NM_001848.3(COL6A1):c.629G>A (p.Arg210Gln)
NM_001848.3(COL6A1):c.631C>G (p.Arg211Gly) rs375217284
NM_001848.3(COL6A1):c.631C>T (p.Arg211Cys) rs375217284
NM_001848.3(COL6A1):c.632G>A (p.Arg211His)
NM_001848.3(COL6A1):c.644C>T (p.Ala215Val)
NM_001848.3(COL6A1):c.64G>A (p.Glu22Lys) rs1461577118
NM_001848.3(COL6A1):c.665G>T (p.Arg222Leu) rs780638665
NM_001848.3(COL6A1):c.678G>A (p.Glu226=) rs1370178953
NM_001848.3(COL6A1):c.695T>C (p.Ile232Thr)
NM_001848.3(COL6A1):c.699C>T (p.Asp233=) rs2123466761
NM_001848.3(COL6A1):c.704T>C (p.Ile235Thr) rs2077743440
NM_001848.3(COL6A1):c.716T>A (p.Ile239Asn) rs2123466789
NM_001848.3(COL6A1):c.717+10C>T
NM_001848.3(COL6A1):c.717+9C>G
NM_001848.3(COL6A1):c.718-11dup rs778494336
NM_001848.3(COL6A1):c.718-20G>A
NM_001848.3(COL6A1):c.718A>G (p.Lys240Glu)
NM_001848.3(COL6A1):c.720A>G (p.Lys240=) rs147612667
NM_001848.3(COL6A1):c.720A>T (p.Lys240Asn)
NM_001848.3(COL6A1):c.724A>G (p.Asn242Asp)
NM_001848.3(COL6A1):c.727G>A (p.Val243Met)
NM_001848.3(COL6A1):c.729G>A (p.Val243=)
NM_001848.3(COL6A1):c.732G>A (p.Glu244=)
NM_001848.3(COL6A1):c.738+1G>T rs2077744287
NM_001848.3(COL6A1):c.738+24del
NM_001848.3(COL6A1):c.739-11del rs573196191
NM_001848.3(COL6A1):c.739-13T>C rs2123467487
NM_001848.3(COL6A1):c.739-2A>G rs2123467538
NM_001848.3(COL6A1):c.739-5C>T rs369946755
NM_001848.3(COL6A1):c.739-6C>G rs755793406
NM_001848.3(COL6A1):c.739-7C>T rs1603590124
NM_001848.3(COL6A1):c.741C>T (p.Cys247=)
NM_001848.3(COL6A1):c.748_805-704del
NM_001848.3(COL6A1):c.750C>T (p.Phe250=) rs748153811
NM_001848.3(COL6A1):c.751G>T (p.Glu251Ter)
NM_001848.3(COL6A1):c.756C>T (p.Cys252=)
NM_001848.3(COL6A1):c.759+12C>G
NM_001848.3(COL6A1):c.759+15C>T
NM_001848.3(COL6A1):c.759+15del
NM_001848.3(COL6A1):c.760-18G>A
NM_001848.3(COL6A1):c.760-19C>T
NM_001848.3(COL6A1):c.760-3C>T
NM_001848.3(COL6A1):c.760-5T>G rs1322851367
NM_001848.3(COL6A1):c.760-7C>T rs2123467721
NM_001848.3(COL6A1):c.761C>G (p.Pro254Arg)
NM_001848.3(COL6A1):c.763G>C (p.Ala255Pro) rs145473829
NM_001848.3(COL6A1):c.775C>A (p.Pro259Thr) rs2077747487
NM_001848.3(COL6A1):c.782_789del (p.Leu261fs) rs886043354
NM_001848.3(COL6A1):c.787G>T (p.Gly263Cys) rs1569517943
NM_001848.3(COL6A1):c.788G>A (p.Gly263Asp) rs886043351
NM_001848.3(COL6A1):c.788G>T (p.Gly263Val) rs886043351
NM_001848.3(COL6A1):c.803A>G (p.Glu268Gly)
NM_001848.3(COL6A1):c.804+14C>T
NM_001848.3(COL6A1):c.804+1G>A rs1385646650
NM_001848.3(COL6A1):c.804+20C>T
NM_001848.3(COL6A1):c.804+8G>A
NM_001848.3(COL6A1):c.804+9T>C rs2123467834
NM_001848.3(COL6A1):c.805-11T>C
NM_001848.3(COL6A1):c.805-2A>C rs398123639
NM_001848.3(COL6A1):c.805-2A>G rs398123639
NM_001848.3(COL6A1):c.805-2A>T rs398123639
NM_001848.3(COL6A1):c.806G>A (p.Gly269Glu) rs2077759104
NM_001848.3(COL6A1):c.809_811del (p.Glu270_Arg271delinsGly) rs1569518070
NM_001848.3(COL6A1):c.811C>T (p.Arg271Ter) rs1391624796
NM_001848.3(COL6A1):c.814G>C (p.Gly272Arg) rs398123640
NM_001848.3(COL6A1):c.815G>A (p.Gly272Asp) rs1064793840
NM_001848.3(COL6A1):c.821C>G (p.Pro274Arg) rs201093313
NM_001848.3(COL6A1):c.823G>A (p.Gly275Arg) rs1556425467
NM_001848.3(COL6A1):c.823G>T (p.Gly275Trp) rs1556425467
NM_001848.3(COL6A1):c.824G>T (p.Gly275Val) rs1556425468
NM_001848.3(COL6A1):c.833G>T (p.Gly278Val)
NM_001848.3(COL6A1):c.83C>T (p.Ala28Val)
NM_001848.3(COL6A1):c.841G>A (p.Gly281Arg) rs267606746
NM_001848.3(COL6A1):c.842G>A (p.Gly281Glu) rs886041383
NM_001848.3(COL6A1):c.842_858+7del rs2077759485
NM_001848.3(COL6A1):c.846_854del (p.Glu282_Gly284del) rs1556425474
NM_001848.3(COL6A1):c.849C>T (p.Ala283=) rs1186770930
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001848.3(COL6A1):c.857del (p.Pro286fs) rs797044457
NM_001848.3(COL6A1):c.858+10T>C rs2123470427
NM_001848.3(COL6A1):c.858+13C>G
NM_001848.3(COL6A1):c.858+13C>T
NM_001848.3(COL6A1):c.858+5G>A rs2123470416
NM_001848.3(COL6A1):c.858+5G>T
NM_001848.3(COL6A1):c.858+7G>C rs2123470420
NM_001848.3(COL6A1):c.858+8C>T
NM_001848.3(COL6A1):c.859-15C>A rs759271765
NM_001848.3(COL6A1):c.859-15C>T
NM_001848.3(COL6A1):c.859-1G>C rs1556425531
NM_001848.3(COL6A1):c.859-20_859-17del rs766293322
NM_001848.3(COL6A1):c.859-20_859-18delinsTGA rs386819390
NM_001848.3(COL6A1):c.859-20_859-19inv
NM_001848.3(COL6A1):c.859-2A>G
NM_001848.3(COL6A1):c.859G>A (p.Gly287Arg) rs1057521152
NM_001848.3(COL6A1):c.85G>A (p.Val29Met) rs766057159
NM_001848.3(COL6A1):c.860G>A (p.Gly287Glu) rs2077761954
NM_001848.3(COL6A1):c.861A>G (p.Gly287=)
NM_001848.3(COL6A1):c.865C>G (p.Pro289Ala) rs777764932
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg) rs121912939
NM_001848.3(COL6A1):c.868G>C (p.Gly290Arg) rs121912939
NM_001848.3(COL6A1):c.868G>T (p.Gly290Trp) rs121912939
NM_001848.3(COL6A1):c.869G>A (p.Gly290Glu) rs1603590637
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001848.3(COL6A1):c.877G>C (p.Gly293Arg) rs398123643
NM_001848.3(COL6A1):c.878G>A (p.Gly293Glu) rs1603590641
NM_001848.3(COL6A1):c.878G>T (p.Gly293Val) rs1603590641
NM_001848.3(COL6A1):c.880C>T (p.Pro294Ser)
NM_001848.3(COL6A1):c.883_903+27delinsCAGGACCTCGGACCTGAGG
NM_001848.3(COL6A1):c.887G>A (p.Gly296Glu) rs1603590649
NM_001848.3(COL6A1):c.887G>T (p.Gly296Val) rs1603590649
NM_001848.3(COL6A1):c.888G>A (p.Gly296=) rs2123470925
NM_001848.3(COL6A1):c.894G>C (p.Gln298His) rs371989252
NM_001848.3(COL6A1):c.895G>A (p.Gly299Arg) rs2077762322
NM_001848.3(COL6A1):c.896G>A (p.Gly299Glu) rs398123644
NM_001848.3(COL6A1):c.903+10_903+25del
NM_001848.3(COL6A1):c.903+12C>A
NM_001848.3(COL6A1):c.903+12C>G
NM_001848.3(COL6A1):c.903+12C>T
NM_001848.3(COL6A1):c.903+13C>A rs199632006
NM_001848.3(COL6A1):c.903+13C>G rs199632006
NM_001848.3(COL6A1):c.903+13_903+14delinsTA rs2123470988
NM_001848.3(COL6A1):c.903+14del rs757968177
NM_001848.3(COL6A1):c.903+18C>A
NM_001848.3(COL6A1):c.903+1G>T rs1569518119
NM_001848.3(COL6A1):c.903+20T>C rs2123470996
NM_001848.3(COL6A1):c.903+20T>G
NM_001848.3(COL6A1):c.903+2_903+10del
NM_001848.3(COL6A1):c.904-10G>A rs794727027
NM_001848.3(COL6A1):c.904-14C>T
NM_001848.3(COL6A1):c.904-18C>T
NM_001848.3(COL6A1):c.904-2A>G rs1057519174
NM_001848.3(COL6A1):c.904-39A>G rs1569518138
NM_001848.3(COL6A1):c.904-39A>T rs1569518138
NM_001848.3(COL6A1):c.904-3T>G
NM_001848.3(COL6A1):c.905G>A (p.Gly302Glu) rs1556425566
NM_001848.3(COL6A1):c.913G>C (p.Gly305Arg) rs1469287281
NM_001848.3(COL6A1):c.914G>A (p.Gly305Glu) rs886042684
NM_001848.3(COL6A1):c.918C>A (p.Ser306Arg)
NM_001848.3(COL6A1):c.923G>T (p.Gly308Val) rs2077763346
NM_001848.3(COL6A1):c.924G>A (p.Gly308=) rs374654116
NM_001848.3(COL6A1):c.925G>A (p.Glu309Lys)
NM_001848.3(COL6A1):c.928_930+23del
NM_001848.3(COL6A1):c.928_930del (p.Lys310del) rs886043114
NM_001848.3(COL6A1):c.930+10G>A rs772379034
NM_001848.3(COL6A1):c.930+189C>T rs1556425596
NM_001848.3(COL6A1):c.930+19C>T
NM_001848.3(COL6A1):c.930+1G>A rs886042902
NM_001848.3(COL6A1):c.930+1G>T rs886042902
NM_001848.3(COL6A1):c.930+20G>A
NM_001848.3(COL6A1):c.930+20G>C rs765683206
NM_001848.3(COL6A1):c.931-10G>A
NM_001848.3(COL6A1):c.931-17G>A rs568147495
NM_001848.3(COL6A1):c.931-17G>T
NM_001848.3(COL6A1):c.931-1G>A rs886042354
NM_001848.3(COL6A1):c.931-1G>C rs886042354
NM_001848.3(COL6A1):c.931-4G>T rs758332867
NM_001848.3(COL6A1):c.931-8C>G
NM_001848.3(COL6A1):c.931G>T (p.Gly311Cys) rs2123471915
NM_001848.3(COL6A1):c.932G>A (p.Gly311Asp) rs886044231
NM_001848.3(COL6A1):c.934T>G (p.Ser312Ala) rs771229905
NM_001848.3(COL6A1):c.93C>T (p.Phe31=) rs753371577
NM_001848.3(COL6A1):c.941G>A (p.Gly314Glu) rs1556425679
NM_001848.3(COL6A1):c.941G>T (p.Gly314Val) rs1556425679
NM_001848.3(COL6A1):c.956A>G (p.Lys319Arg) rs794727059
NM_001848.3(COL6A1):c.957+10G>A
NM_001848.3(COL6A1):c.957+1G>A rs886044535
NM_001848.3(COL6A1):c.957+1G>C
NM_001848.3(COL6A1):c.957+2T>C rs794727060
NM_001848.3(COL6A1):c.957+4A>T
NM_001848.3(COL6A1):c.957+6C>G rs374926748
NM_001848.3(COL6A1):c.957G>A (p.Lys319=) rs1057520625
NM_001848.3(COL6A1):c.957_957+7del rs1556425687
NM_001848.3(COL6A1):c.958-11C>T
NM_001848.3(COL6A1):c.958-13T>G rs1490319824
NM_001848.3(COL6A1):c.958-2A>G rs1556425717
NM_001848.3(COL6A1):c.958-2_958-1del rs2123472064
NM_001848.3(COL6A1):c.958-3_958-2del
NM_001848.3(COL6A1):c.958-5C>T
NM_001848.3(COL6A1):c.97+12C>G rs2077709554
NM_001848.3(COL6A1):c.971_979del (p.Lys324_Gly326del) rs2123472068
NM_001848.3(COL6A1):c.973C>G (p.Arg325Gly) rs764704372
NM_001848.3(COL6A1):c.973C>T (p.Arg325Cys) rs764704372
NM_001848.3(COL6A1):c.98-2_103del rs1556423703
NM_001848.3(COL6A1):c.98-6G>A rs886042599
NM_001848.3(COL6A1):c.987G>A (p.Gly329=)
NM_001848.3(COL6A1):c.995G>T (p.Gly332Val)
NM_001848.3(COL6A1):c.997G>T (p.Val333Leu)
NM_001848.3(COL6A1):c.9G>A (p.Ala3=) rs369561233
NM_001848.3:c.19dup
NM_001849.3(COL6A2):c.-91_3071dup
NM_001849.3(COL6A2):c.2312dup (p.Asn771Lysfs) rs886043164
NM_001849.4(COL6A2):c.-27-3C>G rs1288520983
NM_001849.4(COL6A2):c.1000-10T>C rs1036136617
NM_001849.4(COL6A2):c.1000-13C>T
NM_001849.4(COL6A2):c.1000-13_1030del rs1555873353
NM_001849.4(COL6A2):c.1000-14C>T
NM_001849.4(COL6A2):c.1000-15C>T rs902044548
NM_001849.4(COL6A2):c.1000-1G>T rs1555873358
NM_001849.4(COL6A2):c.1000-2A>C rs1555873356
NM_001849.4(COL6A2):c.1000-2A>G rs1555873356
NM_001849.4(COL6A2):c.1009G>A (p.Gly337Arg) rs2123631275
NM_001849.4(COL6A2):c.100AAC[2] (p.Asn36del)
NM_001849.4(COL6A2):c.1018G>C (p.Gly340Arg)
NM_001849.4(COL6A2):c.101_104del (p.Asn34fs) rs2123612919
NM_001849.4(COL6A2):c.1021C>A (p.Pro341Thr)
NM_001849.4(COL6A2):c.1026T>C (p.Pro342=) rs1568930411
NM_001849.4(COL6A2):c.1027G>A (p.Gly343Ser)
NM_001849.4(COL6A2):c.102C>T (p.Asn34=)
NM_001849.4(COL6A2):c.1037_1038delinsTT (p.Gly346Val) rs1568930426
NM_001849.4(COL6A2):c.1039G>A (p.Asp347Asn)
NM_001849.4(COL6A2):c.1045G>A (p.Gly349Arg) rs2078490056
NM_001849.4(COL6A2):c.1046_1053+1del
NM_001849.4(COL6A2):c.1053+1G>A rs886043187
NM_001849.4(COL6A2):c.1053+2T>A rs2123631474
NM_001849.4(COL6A2):c.1053+2T>C rs2123631474
NM_001849.4(COL6A2):c.1053+2T>G rs2123631474
NM_001849.4(COL6A2):c.1053+3A>T rs1555873388
NM_001849.4(COL6A2):c.1053+4dup
NM_001849.4(COL6A2):c.1054-12C>T
NM_001849.4(COL6A2):c.1054-2A>G rs886044023
NM_001849.4(COL6A2):c.1054-7C>G rs762738666
NM_001849.4(COL6A2):c.1055delG rs1555873507
NM_001849.4(COL6A2):c.1059del (p.Asp354fs) rs1555873508
NM_001849.4(COL6A2):c.105C>A (p.Asn35Lys)
NM_001849.4(COL6A2):c.1060G>C (p.Asp354His) rs188184732
NM_001849.4(COL6A2):c.1061A>G (p.Asp354Gly)
NM_001849.4(COL6A2):c.1064G>T (p.Gly355Val)
NM_001849.4(COL6A2):c.1070C>T (p.Pro357Leu) rs199929757
NM_001849.4(COL6A2):c.1075dup (p.Glu359fs) rs2078499771
NM_001849.4(COL6A2):c.1078G>T (p.Ala360Ser) rs1555873523
NM_001849.4(COL6A2):c.1079C>T (p.Ala360Val) rs2078500027
NM_001849.4(COL6A2):c.1095G>A (p.Glu365=) rs374673302
NM_001849.4(COL6A2):c.1095G>T (p.Glu365Asp) rs374673302
NM_001849.4(COL6A2):c.1096C>T (p.Arg366Ter) rs387906609
NM_001849.4(COL6A2):c.1102G>C (p.Asp368His)
NM_001849.4(COL6A2):c.1110C>T (p.Gly370=)
NM_001849.4(COL6A2):c.1112G>T (p.Gly371Val) rs1601229481
NM_001849.4(COL6A2):c.1116+6T>G
NM_001849.4(COL6A2):c.1117-10A>G rs1568931397
NM_001849.4(COL6A2):c.1117-4C>T rs2123635658
NM_001849.4(COL6A2):c.1117-8C>T rs1601231143
NM_001849.4(COL6A2):c.1119G>A (p.Gly373=) rs760861317
NM_001849.4(COL6A2):c.111C>A (p.Cys37Ter) rs986393872
NM_001849.4(COL6A2):c.1121A>G (p.Asp374Gly)
NM_001849.4(COL6A2):c.1124C>G (p.Pro375Arg) rs753834270
NM_001849.4(COL6A2):c.1125_1133del (p.375PGR[1]) rs2123635719
NM_001849.4(COL6A2):c.112C>T (p.Pro38Ser) rs2078399168
NM_001849.4(COL6A2):c.1133_1141del (p.375PGR[1])
NM_001849.4(COL6A2):c.1139G>A (p.Arg380His)
NM_001849.4(COL6A2):c.1148C>G (p.Pro383Arg)
NM_001849.4(COL6A2):c.115+12C>T
NM_001849.4(COL6A2):c.115+13G>A
NM_001849.4(COL6A2):c.115+16G>A
NM_001849.4(COL6A2):c.115+17G>A
NM_001849.4(COL6A2):c.115+17del
NM_001849.4(COL6A2):c.115+19C>T
NM_001849.4(COL6A2):c.115+19_115+25del rs757969178
NM_001849.4(COL6A2):c.115+6A>G rs886042882
NM_001849.4(COL6A2):c.1151dup (p.Glu386fs) rs1601231322
NM_001849.4(COL6A2):c.116-14C>G
NM_001849.4(COL6A2):c.1163G>A (p.Gly388Glu)
NM_001849.4(COL6A2):c.1179+1G>A rs2078514224
NM_001849.4(COL6A2):c.1179+1G>T
NM_001849.4(COL6A2):c.1179+20C>T
NM_001849.4(COL6A2):c.1180-10C>G rs777782503
NM_001849.4(COL6A2):c.1180-15C>T
NM_001849.4(COL6A2):c.1180-16T>C rs1355356965
NM_001849.4(COL6A2):c.1180-1G>A
NM_001849.4(COL6A2):c.1180-2A>G rs1601232289
NM_001849.4(COL6A2):c.1180-5_1180-3del rs774369631
NM_001849.4(COL6A2):c.1181G>C (p.Gly394Ala) rs756966358
NM_001849.4(COL6A2):c.1191C>T (p.Gly397=)
NM_001849.4(COL6A2):c.1196G>T (p.Ser399Ile)
NM_001849.4(COL6A2):c.1199G>T (p.Gly400Val) rs1555873827
NM_001849.4(COL6A2):c.1202C>A (p.Ala401Asp)
NM_001849.4(COL6A2):c.1205C>T (p.Pro402Leu)
NM_001849.4(COL6A2):c.1215T>C (p.Pro405=) rs558981930
NM_001849.4(COL6A2):c.1219G>A (p.Val407Met)
NM_001849.4(COL6A2):c.1225G>A (p.Gly409Arg) rs1568931875
NM_001849.4(COL6A2):c.1236C>G (p.Gly412=)
NM_001849.4(COL6A2):c.1240C>T (p.Pro414Ser)
NM_001849.4(COL6A2):c.1249C>G (p.Arg417Gly) rs1248584370
NM_001849.4(COL6A2):c.1249del (p.Arg417fs) rs2078521344
NM_001849.4(COL6A2):c.124G>T (p.Asp42Tyr)
NM_001849.4(COL6A2):c.1250G>A (p.Arg417His)
NM_001849.4(COL6A2):c.1250G>T (p.Arg417Leu) rs371383704
NM_001849.4(COL6A2):c.1251C>G (p.Arg417=) rs61735827
NM_001849.4(COL6A2):c.1251C>T (p.Arg417=) rs61735827
NM_001849.4(COL6A2):c.1259A>G (p.Lys420Arg) rs2123637568
NM_001849.4(COL6A2):c.1268C>T (p.Pro423Leu) rs761030439
NM_001849.4(COL6A2):c.1269+14G>A
NM_001849.4(COL6A2):c.1269+17C>A
NM_001849.4(COL6A2):c.1269+7C>T rs751071208
NM_001849.4(COL6A2):c.1269+9C>T
NM_001849.4(COL6A2):c.1269G>A (p.Pro423=) rs144136807
NM_001849.4(COL6A2):c.1269_1270insCATCATCCCTCTACATTTTTTAACCAAATCAACAACAACCTATTTAGCTGTTCCCCAACCTTTTCCTCCGACAGCCG (p.Gly424fs)
NM_001849.4(COL6A2):c.1270-8C>A rs1601233823
NM_001849.4(COL6A2):c.1270-8C>T
NM_001849.4(COL6A2):c.1273C>T (p.Arg425Cys) rs761330909
NM_001849.4(COL6A2):c.1275_1282del (p.Arg426fs)
NM_001849.4(COL6A2):c.1286C>T (p.Pro429Leu)
NM_001849.4(COL6A2):c.1293C>T (p.Thr431=) rs1601233959
NM_001849.4(COL6A2):c.1294A>T (p.Lys432Ter) rs752730608
NM_001849.4(COL6A2):c.1296G>C (p.Lys432Asn)
NM_001849.4(COL6A2):c.129C>T (p.Cys43=) rs755324001
NM_001849.4(COL6A2):c.1300A>G (p.Ser434Gly)
NM_001849.4(COL6A2):c.1302C>T (p.Ser434=) rs1230708321
NM_001849.4(COL6A2):c.1319C>T (p.Pro440Leu)
NM_001849.4(COL6A2):c.1324G>T (p.Gly442Trp)
NM_001849.4(COL6A2):c.1327G>T (p.Glu443Ter)
NM_001849.4(COL6A2):c.132C>T (p.Pro44=) rs2123614144
NM_001849.4(COL6A2):c.1330_1332del (p.Lys444del) rs2078532600
NM_001849.4(COL6A2):c.1332+11G>T
NM_001849.4(COL6A2):c.1332+20C>T rs1222615509
NM_001849.4(COL6A2):c.1332+2T>C rs2078532687
NM_001849.4(COL6A2):c.1333-12C>T
NM_001849.4(COL6A2):c.1333-5C>T rs2078547153
NM_001849.4(COL6A2):c.1333-9_1333-5del rs1193152104
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn) rs535007570
NM_001849.4(COL6A2):c.1336G>C (p.Asp446His) rs535007570
NM_001849.4(COL6A2):c.1336G>T (p.Asp446Tyr)
NM_001849.4(COL6A2):c.1338C>T (p.Asp446=)
NM_001849.4(COL6A2):c.1345C>G (p.Pro449Ala)
NM_001849.4(COL6A2):c.1354C>T (p.Pro452Ser) rs1269914621
NM_001849.4(COL6A2):c.1368T>C (p.Ala456=)
NM_001849.4(COL6A2):c.1375G>A (p.Val459Ile)
NM_001849.4(COL6A2):c.1378G>A (p.Gly460Ser)
NM_001849.4(COL6A2):c.1382dup (p.Asn461fs)
NM_001849.4(COL6A2):c.1386A>C (p.Lys462Asn)
NM_001849.4(COL6A2):c.1392C>T (p.Ala464=) rs1601235960
NM_001849.4(COL6A2):c.1395+20_1395+59dup rs1363017776
NM_001849.4(COL6A2):c.1395+5G>C rs1373123496
NM_001849.4(COL6A2):c.1395+7G>A
NM_001849.4(COL6A2):c.1395+7del
NM_001849.4(COL6A2):c.1395+9_1395+38del
NM_001849.4(COL6A2):c.1396-20A>C rs1398193069
NM_001849.4(COL6A2):c.1396-26_1396-10del rs1601237036
NM_001849.4(COL6A2):c.1396-4C>A
NM_001849.4(COL6A2):c.1396-8T>C
NM_001849.4(COL6A2):c.1398A>G (p.Gly466=) rs758072176
NM_001849.4(COL6A2):c.1399G>A (p.Asp467Asn) rs1464567484
NM_001849.4(COL6A2):c.1399G>C (p.Asp467His)
NM_001849.4(COL6A2):c.1403G>T (p.Arg468Leu) rs746541506
NM_001849.4(COL6A2):c.140T>C (p.Val47Ala) rs2123614177
NM_001849.4(COL6A2):c.1418C>A (p.Pro473His) rs1472257957
NM_001849.4(COL6A2):c.1424G>A (p.Gly475Asp) rs2123645059
NM_001849.4(COL6A2):c.1425C>A (p.Gly475=)
NM_001849.4(COL6A2):c.1425C>T (p.Gly475=) rs745867374
NM_001849.4(COL6A2):c.1426C>T (p.Pro476Ser)
NM_001849.4(COL6A2):c.1430A>G (p.Gln477Arg)
NM_001849.4(COL6A2):c.1437_1447del (p.Leu480fs)
NM_001849.4(COL6A2):c.1449C>T (p.Pro483=) rs528087300
NM_001849.4(COL6A2):c.1458+3_1458+6del rs765084926
NM_001849.4(COL6A2):c.1458G>C (p.Gln486His) rs2078559618
NM_001849.4(COL6A2):c.1459-11C>T
NM_001849.4(COL6A2):c.1459-13C>G
NM_001849.4(COL6A2):c.1459-17T>C rs2123646541
NM_001849.4(COL6A2):c.1459-2A>G rs749974929
NM_001849.4(COL6A2):c.1459-2_1459-1del
NM_001849.4(COL6A2):c.1459-5C>G rs1362389378
NM_001849.4(COL6A2):c.1459-5del
NM_001849.4(COL6A2):c.1459-6C>T rs2078566233
NM_001849.4(COL6A2):c.1459-7C>G
NM_001849.4(COL6A2):c.1459-8G>A rs546206539
NM_001849.4(COL6A2):c.1465C>G (p.Arg489Gly) rs727502829
NM_001849.4(COL6A2):c.1466G>C (p.Arg489Pro) rs61735828
NM_001849.4(COL6A2):c.1474C>T (p.Pro492Ser) rs778917725
NM_001849.4(COL6A2):c.1488_1513del (p.Arg498fs)
NM_001849.4(COL6A2):c.1488_1514del (p.Arg498_Pro506del) rs2123646706
NM_001849.4(COL6A2):c.148G>A (p.Val50Met) rs727502826
NM_001849.4(COL6A2):c.148G>T (p.Val50Leu)
NM_001849.4(COL6A2):c.1497A>T (p.Gly499=)
NM_001849.4(COL6A2):c.1503A>C (p.Ser501=) rs2123646795
NM_001849.4(COL6A2):c.1507C>T (p.Gln503Ter)
NM_001849.4(COL6A2):c.150G>T (p.Val50=) rs2123614200
NM_001849.4(COL6A2):c.1516C>A (p.Pro506Thr)
NM_001849.4(COL6A2):c.1519A>G (p.Lys507Glu)
NM_001849.4(COL6A2):c.1521+10C>T rs753385303
NM_001849.4(COL6A2):c.1521+19G>A
NM_001849.4(COL6A2):c.1521+4C>T rs886043036
NM_001849.4(COL6A2):c.1521+9C>T
NM_001849.4(COL6A2):c.1522-12G>C rs770511180
NM_001849.4(COL6A2):c.1522-13C>T
NM_001849.4(COL6A2):c.1522-17T>C
NM_001849.4(COL6A2):c.1522-1G>C
NM_001849.4(COL6A2):c.1522-20G>C
NM_001849.4(COL6A2):c.1522-3C>T
NM_001849.4(COL6A2):c.1522-8T>C
NM_001849.4(COL6A2):c.1522-9C>A rs371576207
NM_001849.4(COL6A2):c.1530C>G (p.Pro510=) rs199842179
NM_001849.4(COL6A2):c.1531G>C (p.Gly511Arg)
NM_001849.4(COL6A2):c.1534A>C (p.Arg512=)
NM_001849.4(COL6A2):c.1537C>G (p.Pro513Ala) rs756315481
NM_001849.4(COL6A2):c.153G>A (p.Leu51=)
NM_001849.4(COL6A2):c.1548del (p.Tyr517fs) rs2078576503
NM_001849.4(COL6A2):c.1559C>A (p.Pro520His) rs2078576778
NM_001849.4(COL6A2):c.155A>G (p.Asp52Gly)
NM_001849.4(COL6A2):c.1561C>T (p.Arg521Ter) rs773686174
NM_001849.4(COL6A2):c.1568C>G (p.Ala523Gly) rs769563817
NM_001849.4(COL6A2):c.1570C>T (p.Pro524Ser) rs2078577021
NM_001849.4(COL6A2):c.1572+13C>G rs2078577323
NM_001849.4(COL6A2):c.1572+1G>A rs1057520717
NM_001849.4(COL6A2):c.1572+3G>A rs372414400
NM_001849.4(COL6A2):c.1572+5G>A
NM_001849.4(COL6A2):c.1573-13G>A rs771931533
NM_001849.4(COL6A2):c.1573-14T>C rs2078581898
NM_001849.4(COL6A2):c.1573-20G>A
NM_001849.4(COL6A2):c.1573-8C>T
NM_001849.4(COL6A2):c.1584C>T (p.Gly528=)
NM_001849.4(COL6A2):c.1589C>G (p.Pro530Arg)
NM_001849.4(COL6A2):c.1590C>T (p.Pro530=) rs758975198
NM_001849.4(COL6A2):c.1593C>T (p.Gly531=) rs1394972929
NM_001849.4(COL6A2):c.1597C>T (p.Arg533Cys)
NM_001849.4(COL6A2):c.159C>G (p.Thr53=) rs2123614218
NM_001849.4(COL6A2):c.1608+13C>G
NM_001849.4(COL6A2):c.1608+17G>C
NM_001849.4(COL6A2):c.1609-19C>T
NM_001849.4(COL6A2):c.1609G>A (p.Gly537Arg)
NM_001849.4(COL6A2):c.1613G>A (p.Gly538Asp)
NM_001849.4(COL6A2):c.1614C>G (p.Gly538=)
NM_001849.4(COL6A2):c.1619G>T (p.Gly540Val) rs2123650884
NM_001849.4(COL6A2):c.1625T>G (p.Phe542Cys) rs2123650926
NM_001849.4(COL6A2):c.1641_1667del (p.Gly549_Pro557del) rs1555874762
NM_001849.4(COL6A2):c.1642C>A (p.Pro548Thr)
NM_001849.4(COL6A2):c.1647G>A (p.Gly549=)
NM_001849.4(COL6A2):c.1650del (p.Gly552fs)
NM_001849.4(COL6A2):c.1651AAAGGAGAG[1] (p.551KGE[1]) rs773493556
NM_001849.4(COL6A2):c.1651AAAGGAGAG[3] (p.551KGE[3]) rs773493556
NM_001849.4(COL6A2):c.1657G>A (p.Glu553Lys)
NM_001849.4(COL6A2):c.1666G>C (p.Glu556Gln)
NM_001849.4(COL6A2):c.1668G>A (p.Glu556=)
NM_001849.4(COL6A2):c.1669C>T (p.Pro557Ser) rs2078589816
NM_001849.4(COL6A2):c.1671+10A>C rs915786
NM_001849.4(COL6A2):c.1671+12C>G
NM_001849.4(COL6A2):c.1671+1G>T
NM_001849.4(COL6A2):c.1671+4_1671+7del rs2078589929
NM_001849.4(COL6A2):c.1671+7G>A
NM_001849.4(COL6A2):c.1671+9_1671+10inv
NM_001849.4(COL6A2):c.1671T>C (p.Pro557=) rs2078589880
NM_001849.4(COL6A2):c.1672-12G>C
NM_001849.4(COL6A2):c.1672-15_1672-13del
NM_001849.4(COL6A2):c.1672-20C>T
NM_001849.4(COL6A2):c.1672-24C>G rs3746995
NM_001849.4(COL6A2):c.167G>A (p.Ser56Asn) rs1555871311
NM_001849.4(COL6A2):c.1682G>T (p.Gly561Val)
NM_001849.4(COL6A2):c.1684C>A (p.Pro562Thr) rs1035008109
NM_001849.4(COL6A2):c.1685C>G (p.Pro562Arg)
NM_001849.4(COL6A2):c.1689T>G (p.Pro563=)
NM_001849.4(COL6A2):c.1690G>A (p.Gly564Ser) rs1172190604
NM_001849.4(COL6A2):c.1691G>C (p.Gly564Ala)
NM_001849.4(COL6A2):c.1693G>A (p.Glu565Lys)
NM_001849.4(COL6A2):c.1693_1694delinsAG (p.Glu565Arg) rs2078631679
NM_001849.4(COL6A2):c.1697C>G (p.Pro566Arg)
NM_001849.4(COL6A2):c.16T>A (p.Cys6Ser) rs2078397289
NM_001849.4(COL6A2):c.1703C>T (p.Pro568Leu) rs2123658612
NM_001849.4(COL6A2):c.1713A>G (p.Pro571=) rs2123658659
NM_001849.4(COL6A2):c.1715G>C (p.Arg572Thr)
NM_001849.4(COL6A2):c.1723C>T (p.Pro575Ser)
NM_001849.4(COL6A2):c.1734+16G>A
NM_001849.4(COL6A2):c.1734+9G>A
NM_001849.4(COL6A2):c.1735-11_1735-10delinsCT rs2123659310
NM_001849.4(COL6A2):c.1743C>T (p.Pro581=) rs764878153
NM_001849.4(COL6A2):c.1746_1763del (p.Pro583_Gly588del)
NM_001849.4(COL6A2):c.174C>G (p.Thr58=)
NM_001849.4(COL6A2):c.1750C>A (p.Pro584Thr) rs779979272
NM_001849.4(COL6A2):c.1750C>G (p.Pro584Ala)
NM_001849.4(COL6A2):c.1751_1770+24dup rs2078635959
NM_001849.4(COL6A2):c.1751del (p.Pro584fs) rs886044398
NM_001849.4(COL6A2):c.1758C>A (p.Asp586Glu) rs1568938716
NM_001849.4(COL6A2):c.1760C>T (p.Pro587Leu)
NM_001849.4(COL6A2):c.1769C>A (p.Thr590Lys) rs142709940
NM_001849.4(COL6A2):c.1769C>T (p.Thr590Met) rs142709940
NM_001849.4(COL6A2):c.176T>C (p.Met59Thr) rs886043225
NM_001849.4(COL6A2):c.1770+12A>G
NM_001849.4(COL6A2):c.1770+13T>C
NM_001849.4(COL6A2):c.1770+15G>C
NM_001849.4(COL6A2):c.1770+1G>A rs752803039
NM_001849.4(COL6A2):c.1770+1del rs886044215
NM_001849.4(COL6A2):c.1770+2T>C
NM_001849.4(COL6A2):c.1770G>T (p.Thr590=)
NM_001849.4(COL6A2):c.1771-12T>C
NM_001849.4(COL6A2):c.1771-16G>A
NM_001849.4(COL6A2):c.1771-19C>T
NM_001849.4(COL6A2):c.1771-1G>A rs748035948
NM_001849.4(COL6A2):c.1771-1G>T rs748035948
NM_001849.4(COL6A2):c.1771-20G>C
NM_001849.4(COL6A2):c.1771-9G>A
NM_001849.4(COL6A2):c.1784T>A (p.Met595Lys)
NM_001849.4(COL6A2):c.1788C>T (p.Thr596=)
NM_001849.4(COL6A2):c.1797G>A (p.Arg599=) rs370858447
NM_001849.4(COL6A2):c.179A>C (p.Gln60Pro) rs147892526
NM_001849.4(COL6A2):c.1806C>A (p.Cys602Ter) rs751987553
NM_001849.4(COL6A2):c.1816+11G>A
NM_001849.4(COL6A2):c.1816+12C>T
NM_001849.4(COL6A2):c.1816+17G>A
NM_001849.4(COL6A2):c.1816+18_1816+30del
NM_001849.4(COL6A2):c.1816+18del rs150275851
NM_001849.4(COL6A2):c.1816+19_1816+28del
NM_001849.4(COL6A2):c.1816+20A>C
NM_001849.4(COL6A2):c.1816+3G>A
NM_001849.4(COL6A2):c.1816+6G>A
NM_001849.4(COL6A2):c.1816+9C>A rs1456625954
NM_001849.4(COL6A2):c.1816G>A (p.Asp606Asn) rs747602311
NM_001849.4(COL6A2):c.1817-16C>G
NM_001849.4(COL6A2):c.1817-18A>C
NM_001849.4(COL6A2):c.1817-19G>A rs2123661488
NM_001849.4(COL6A2):c.1817-2A>C
NM_001849.4(COL6A2):c.1817-2A>G rs111697581
NM_001849.4(COL6A2):c.1817-2dup
NM_001849.4(COL6A2):c.1817-3C>A rs112645828
NM_001849.4(COL6A2):c.1817-3C>G rs112645828
NM_001849.4(COL6A2):c.1817-3C>T rs112645828
NM_001849.4(COL6A2):c.1817-3_1817-2del rs1491048605
NM_001849.4(COL6A2):c.1817-3del rs149954350
NM_001849.4(COL6A2):c.1817-3dup rs149954350
NM_001849.4(COL6A2):c.1817-4C>A
NM_001849.4(COL6A2):c.1817-4C>T rs373659176
NM_001849.4(COL6A2):c.1817-4_1817-3dup rs149954350
NM_001849.4(COL6A2):c.1817-9C>T rs766915366
NM_001849.4(COL6A2):c.1827G>A (p.Lys609=) rs1451931496
NM_001849.4(COL6A2):c.1835G>C (p.Gly612Ala)
NM_001849.4(COL6A2):c.1837G>A (p.Ala613Thr) rs146949791
NM_001849.4(COL6A2):c.1838C>G (p.Ala613Gly)
NM_001849.4(COL6A2):c.1840C>T (p.Leu614=)
NM_001849.4(COL6A2):c.1843G>A (p.Asp615Asn)
NM_001849.4(COL6A2):c.1845C>T (p.Asp615=) rs908989305
NM_001849.4(COL6A2):c.1846G>C (p.Val616Leu) rs746193653
NM_001849.4(COL6A2):c.1846G>T (p.Val616Leu) rs746193653
NM_001849.4(COL6A2):c.1852_1854del (p.Phe618del)
NM_001849.4(COL6A2):c.1856_1861del (p.Val619_Ile620del) rs398122821
NM_001849.4(COL6A2):c.1861G>A (p.Asp621Asn) rs267606750
NM_001849.4(COL6A2):c.1861G>C (p.Asp621His) rs267606750
NM_001849.4(COL6A2):c.1865G>A (p.Ser622Asn) rs2078648587
NM_001849.4(COL6A2):c.1868C>T (p.Ser623Phe) rs2123661865
NM_001849.4(COL6A2):c.1873A>C (p.Ser625Arg)
NM_001849.4(COL6A2):c.1876A>G (p.Ile626Val)
NM_001849.4(COL6A2):c.1889A>G (p.Asn630Ser)
NM_001849.4(COL6A2):c.1902G>A (p.Glu634=)
NM_001849.4(COL6A2):c.1906A>T (p.Asn636Tyr) rs2123662036
NM_001849.4(COL6A2):c.1909T>A (p.Phe637Ile)
NM_001849.4(COL6A2):c.1912_1914del (p.Val638del) rs1568939674
NM_001849.4(COL6A2):c.1913T>C (p.Val638Ala) rs141919484
NM_001849.4(COL6A2):c.1913T>G (p.Val638Gly) rs141919484
NM_001849.4(COL6A2):c.1917C>T (p.Ile639=)
NM_001849.4(COL6A2):c.1929C>T (p.Asn643=) rs1472678084
NM_001849.4(COL6A2):c.1932G>A (p.Arg644=) rs776676512
NM_001849.4(COL6A2):c.1935G>A (p.Leu645=) rs1458485829
NM_001849.4(COL6A2):c.1951G>T (p.Asp651Tyr)
NM_001849.4(COL6A2):c.1954C>T (p.Pro652Ser)
NM_001849.4(COL6A2):c.1956dup (p.Lys653fs)
NM_001849.4(COL6A2):c.1959G>A (p.Lys653=) rs547589437
NM_001849.4(COL6A2):c.1969+10G>T rs201259184
NM_001849.4(COL6A2):c.1969+11C>T
NM_001849.4(COL6A2):c.1969+12_1969+17dup rs760398644
NM_001849.4(COL6A2):c.1969+12_1969+38dup
NM_001849.4(COL6A2):c.1969+12_1969+48del rs2123662331
NM_001849.4(COL6A2):c.1969+12del
NM_001849.4(COL6A2):c.1969+17C>G rs539735984
NM_001849.4(COL6A2):c.1969+19G>A
NM_001849.4(COL6A2):c.1969+1G>T
NM_001849.4(COL6A2):c.1969+20G>C
NM_001849.4(COL6A2):c.1969+20G>T
NM_001849.4(COL6A2):c.1969+4A>G rs775997945
NM_001849.4(COL6A2):c.1969+7G>A
NM_001849.4(COL6A2):c.1970-12_1970-9dup
NM_001849.4(COL6A2):c.1970-14C>G
NM_001849.4(COL6A2):c.1970-14C>T rs749228434
NM_001849.4(COL6A2):c.1970-3C>T rs201879417
NM_001849.4(COL6A2):c.1970-4G>T
NM_001849.4(COL6A2):c.1971G>A (p.Gly657=)
NM_001849.4(COL6A2):c.1975C>T (p.Arg659Cys) rs727502830
NM_001849.4(COL6A2):c.1976G>A (p.Arg659His)
NM_001849.4(COL6A2):c.1976G>C (p.Arg659Pro) rs558005986
NM_001849.4(COL6A2):c.1980G>T (p.Val660=) rs201427728
NM_001849.4(COL6A2):c.1982G>A (p.Gly661Asp)
NM_001849.4(COL6A2):c.1983C>T (p.Gly661=)
NM_001849.4(COL6A2):c.1984G>A (p.Val662Met)
NM_001849.4(COL6A2):c.1987G>A (p.Val663Met) rs2123663062
NM_001849.4(COL6A2):c.1990C>T (p.Gln664Ter)
NM_001849.4(COL6A2):c.1997G>A (p.Ser666Asn) rs786205642
NM_001849.4(COL6A2):c.199C>T (p.Leu67Phe) rs2078406730
NM_001849.4(COL6A2):c.2000A>G (p.His667Arg) rs1245904841
NM_001849.4(COL6A2):c.2002G>T (p.Glu668Ter) rs138948335
NM_001849.4(COL6A2):c.2007C>T (p.Gly669=) rs369568238
NM_001849.4(COL6A2):c.2009C>A (p.Thr670Asn) rs886042884
NM_001849.4(COL6A2):c.2009C>T (p.Thr670Ile)
NM_001849.4(COL6A2):c.2011T>C (p.Phe671Leu)
NM_001849.4(COL6A2):c.2018C>A (p.Ala673Asp)
NM_001849.4(COL6A2):c.201C>T (p.Leu67=) rs1601216910
NM_001849.4(COL6A2):c.2022C>T (p.Ile674=)
NM_001849.4(COL6A2):c.2023C>T (p.Gln675Ter) rs1293736497
NM_001849.4(COL6A2):c.2032G>A (p.Asp678Asn)
NM_001849.4(COL6A2):c.2037A>G (p.Glu679=) rs1601249990
NM_001849.4(COL6A2):c.2038C>T (p.Arg680Cys)
NM_001849.4(COL6A2):c.2040dup (p.Ile681fs) rs886039905
NM_001849.4(COL6A2):c.2044G>A (p.Asp682Asn)
NM_001849.4(COL6A2):c.2044G>C (p.Asp682His) rs376527297
NM_001849.4(COL6A2):c.2047T>C (p.Ser683Pro)
NM_001849.4(COL6A2):c.2048C>T (p.Ser683Phe) rs1258904789
NM_001849.4(COL6A2):c.2054C>G (p.Ser685Trp) rs564873527
NM_001849.4(COL6A2):c.2056A>C (p.Ser686Arg)
NM_001849.4(COL6A2):c.205C>T (p.His69Tyr)
NM_001849.4(COL6A2):c.2069C>G (p.Ala690Gly) rs1568940242
NM_001849.4(COL6A2):c.2070T>C (p.Ala690=)
NM_001849.4(COL6A2):c.2076_2078del (p.Lys692del) rs2078657129
NM_001849.4(COL6A2):c.2079C>A (p.Asn693Lys)
NM_001849.4(COL6A2):c.2083G>C (p.Glu695Gln) rs377376395
NM_001849.4(COL6A2):c.2088G>C (p.Trp696Cys)
NM_001849.4(COL6A2):c.2093C>T (p.Ala698Val) rs1085307668
NM_001849.4(COL6A2):c.2093_2094delinsTA (p.Ala698Val)
NM_001849.4(COL6A2):c.2096G>A (p.Gly699Asp) rs863224861
NM_001849.4(COL6A2):c.2097_2098delinsTA (p.Gly700Ser) rs2123663616
NM_001849.4(COL6A2):c.2098G>A (p.Gly700Ser) rs794727418
NM_001849.4(COL6A2):c.2107A>C (p.Thr703Pro)
NM_001849.4(COL6A2):c.2116G>A (p.Ala706Thr)
NM_001849.4(COL6A2):c.2116G>C (p.Ala706Pro) rs794727417
NM_001849.4(COL6A2):c.2120T>C (p.Leu707Pro) rs2123663738
NM_001849.4(COL6A2):c.2124G>A (p.Lys708=)
NM_001849.4(COL6A2):c.2125T>C (p.Phe709Leu)
NM_001849.4(COL6A2):c.2128G>T (p.Ala710Ser)
NM_001849.4(COL6A2):c.2129C>A (p.Ala710Asp) rs1555875708
NM_001849.4(COL6A2):c.2129C>T (p.Ala710Val) rs1555875708
NM_001849.4(COL6A2):c.2132A>T (p.Tyr711Phe)
NM_001849.4(COL6A2):c.2133C>A (p.Tyr711Ter) rs531816975
NM_001849.4(COL6A2):c.2134G>C (p.Asp712His)
NM_001849.4(COL6A2):c.2134G>T (p.Asp712Tyr) rs375608173
NM_001849.4(COL6A2):c.2138G>A (p.Arg713His)
NM_001849.4(COL6A2):c.2141TCA[1] (p.Ile715del)
NM_001849.4(COL6A2):c.2148G>A (p.Lys716=)
NM_001849.4(COL6A2):c.2151G>A (p.Glu717=)
NM_001849.4(COL6A2):c.2153_2154delinsTG (p.Ser718Met) rs2123663867
NM_001849.4(COL6A2):c.2155C>T (p.Arg719Trp)
NM_001849.4(COL6A2):c.2156G>A (p.Arg719Gln)
NM_001849.4(COL6A2):c.2157G>T (p.Arg719=)
NM_001849.4(COL6A2):c.2161C>T (p.Gln721Ter)
NM_001849.4(COL6A2):c.2171G>A (p.Arg724His) rs145450812
NM_001849.4(COL6A2):c.2172T>G (p.Arg724=) rs2123663974
NM_001849.4(COL6A2):c.2173G>T (p.Val725Leu) rs1555875749
NM_001849.4(COL6A2):c.2175G>A (p.Val725=) rs2123663986
NM_001849.4(COL6A2):c.2178T>C (p.Phe726=) rs1334569870
NM_001849.4(COL6A2):c.2189T>G (p.Ile730Ser) rs1555875759
NM_001849.4(COL6A2):c.2190C>T (p.Ile730=)
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met) rs794727419
NM_001849.4(COL6A2):c.21C>T (p.Ser7=) rs760481395
NM_001849.4(COL6A2):c.2207A>G (p.Asp736Gly) rs2078660025
NM_001849.4(COL6A2):c.2208C>T (p.Asp736=)
NM_001849.4(COL6A2):c.2209C>A (p.Pro737Thr) rs2123664136
NM_001849.4(COL6A2):c.2212C>T (p.Arg738Trp) rs2123664140
NM_001849.4(COL6A2):c.2213G>A (p.Arg738Gln)
NM_001849.4(COL6A2):c.2214G>A (p.Arg738=)
NM_001849.4(COL6A2):c.2218G>A (p.Asp740Asn)
NM_001849.4(COL6A2):c.221T>C (p.Val74Ala)
NM_001849.4(COL6A2):c.2224C>T (p.Leu742Phe)
NM_001849.4(COL6A2):c.2226C>T (p.Leu742=) rs775259194
NM_001849.4(COL6A2):c.2230T>C (p.Leu744=) rs962884368
NM_001849.4(COL6A2):c.2233C>A (p.Arg745=) rs140643748
NM_001849.4(COL6A2):c.2236G>A (p.Ala746Thr)
NM_001849.4(COL6A2):c.2249G>A (p.Arg750His)
NM_001849.4(COL6A2):c.2251G>A (p.Asp751Asn) rs375884809
NM_001849.4(COL6A2):c.2254_2255del (p.Val752fs)
NM_001849.4(COL6A2):c.2256C>T (p.Val752=)
NM_001849.4(COL6A2):c.2258C>T (p.Thr753Ile) rs886042625
NM_001849.4(COL6A2):c.225G>A (p.Pro75=)
NM_001849.4(COL6A2):c.2285T>C (p.Met762Thr)
NM_001849.4(COL6A2):c.2286G>A (p.Met762Ile)
NM_001849.4(COL6A2):c.2297A>C (p.Lys766Thr)
NM_001849.4(COL6A2):c.2301C>G (p.His767Gln)
NM_001849.4(COL6A2):c.2305_2306del (p.Glu768_Ser769insTer) rs2078662535
NM_001849.4(COL6A2):c.2311_2325dup (p.Ile775_Ala776insAsnLeuTyrSerIle)
NM_001849.4(COL6A2):c.2314C>T (p.Leu772Phe)
NM_001849.4(COL6A2):c.2315_2322del (p.Leu772fs)
NM_001849.4(COL6A2):c.2316C>T (p.Leu772=)
NM_001849.4(COL6A2):c.2317T>C (p.Tyr773His) rs2078662932
NM_001849.4(COL6A2):c.2318A>C (p.Tyr773Ser) rs1601251344
NM_001849.4(COL6A2):c.231C>A (p.Phe77Leu)
NM_001849.4(COL6A2):c.2327C>T (p.Ala776Val)
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg) rs267606747
NM_001849.4(COL6A2):c.2334C>A (p.Asp778Glu) rs764165623
NM_001849.4(COL6A2):c.2338C>T (p.Pro780Ser)
NM_001849.4(COL6A2):c.2340A>C (p.Pro780=) rs757806161
NM_001849.4(COL6A2):c.2341C>T (p.Gln781Ter) rs2123664803
NM_001849.4(COL6A2):c.2343G>A (p.Gln781=)
NM_001849.4(COL6A2):c.2347G>A (p.Val783Met) rs1194893303
NM_001849.4(COL6A2):c.2351G>C (p.Arg784Pro) rs75120695
NM_001849.4(COL6A2):c.2354A>G (p.Asn785Ser) rs746466184
NM_001849.4(COL6A2):c.2360C>T (p.Thr787Met)
NM_001849.4(COL6A2):c.2365T>C (p.Phe789Leu)
NM_001849.4(COL6A2):c.2367C>G (p.Phe789Leu)
NM_001849.4(COL6A2):c.2367C>T (p.Phe789=) rs775201159
NM_001849.4(COL6A2):c.2370C>G (p.Ser790=)
NM_001849.4(COL6A2):c.2371G>A (p.Asp791Asn) rs1273249543
NM_001849.4(COL6A2):c.2375T>C (p.Leu792Pro) rs1568940864
NM_001849.4(COL6A2):c.2386_2388del (p.Lys796del) rs747378168
NM_001849.4(COL6A2):c.2388G>T (p.Lys796Asn) rs1312736604
NM_001849.4(COL6A2):c.2404G>A (p.Glu802Lys)
NM_001849.4(COL6A2):c.2417G>A (p.Cys806Tyr) rs749043206
NM_001849.4(COL6A2):c.2418C>A (p.Cys806Ter)
NM_001849.4(COL6A2):c.2422+17G>A
NM_001849.4(COL6A2):c.2422+1G>A rs113828929
NM_001849.4(COL6A2):c.2422+7G>A rs773282809
NM_001849.4(COL6A2):c.2422+8T>C rs1220569382
NM_001849.4(COL6A2):c.2423-11CT[2] rs756221937
NM_001849.4(COL6A2):c.2423-12C>T
NM_001849.4(COL6A2):c.2423-17T>C
NM_001849.4(COL6A2):c.2423-18CT[2] rs2123666734
NM_001849.4(COL6A2):c.2423-18_2423-17insCGGCCCGGCCCGGCCTCTCTCC
NM_001849.4(COL6A2):c.2423-19C>T
NM_001849.4(COL6A2):c.2423-3C>T
NM_001849.4(COL6A2):c.2426C>T (p.Pro809Leu)
NM_001849.4(COL6A2):c.2445C>T (p.Asp815=) rs2078672055
NM_001849.4(COL6A2):c.2451C>G (p.Pro817=) rs2123667105
NM_001849.4(COL6A2):c.2452T>C (p.Cys818Arg)
NM_001849.4(COL6A2):c.2455C>T (p.Gln819Ter) rs121912942
NM_001849.4(COL6A2):c.2459C>G (p.Thr820Arg)
NM_001849.4(COL6A2):c.2461+11G>C
NM_001849.4(COL6A2):c.2461+15C>T rs1057002808
NM_001849.4(COL6A2):c.2461+9G>A rs2078672583
NM_001849.4(COL6A2):c.2462-20G>C
NM_001849.4(COL6A2):c.2462-20G>T
NM_001849.4(COL6A2):c.2462-3C>T rs766469768
NM_001849.4(COL6A2):c.2462-5dup rs797044699
NM_001849.4(COL6A2):c.2462-8C>T rs1419954494
NM_001849.4(COL6A2):c.2467T>A (p.Ser823Thr)
NM_001849.4(COL6A2):c.2471T>C (p.Val824Ala) rs1259128571
NM_001849.4(COL6A2):c.2472G>A (p.Val824=) rs1484313723
NM_001849.4(COL6A2):c.2473G>A (p.Ala825Thr) rs778134390
NM_001849.4(COL6A2):c.2476C>T (p.Gln826Ter) rs2123454401
NM_001849.4(COL6A2):c.2477A>C (p.Gln826Pro) rs2078765932
NM_001849.4(COL6A2):c.2477A>G (p.Gln826Arg) rs2078765932
NM_001849.4(COL6A2):c.2485C>G (p.Gln829Glu)
NM_001849.4(COL6A2):c.2497dup (p.Asp833fs)
NM_001849.4(COL6A2):c.2500A>G (p.Ile834Val)
NM_001849.4(COL6A2):c.2500_2501del (p.Ile834fs) rs2123454477
NM_001849.4(COL6A2):c.2502C>A (p.Ile834=) rs369040271
NM_001849.4(COL6A2):c.2502C>T (p.Ile834=) rs369040271
NM_001849.4(COL6A2):c.2504T>C (p.Val835Ala)
NM_001849.4(COL6A2):c.2512C>G (p.Leu838Val)
NM_001849.4(COL6A2):c.2512C>T (p.Leu838=)
NM_001849.4(COL6A2):c.2513T>C (p.Leu838Pro) rs1568947214
NM_001849.4(COL6A2):c.2519G>A (p.Gly840Asp) rs2123454544
NM_001849.4(COL6A2):c.2532G>A (p.Leu844=)
NM_001849.4(COL6A2):c.2535T>C (p.Gly845=) rs748054346
NM_001849.4(COL6A2):c.2545T>G (p.Phe849Val) rs2078767000
NM_001849.4(COL6A2):c.2549A>G (p.His850Arg)
NM_001849.4(COL6A2):c.2557C>G (p.Arg853Gly) rs759689002
NM_001849.4(COL6A2):c.2560_2569dup (p.Glu857fs) rs2123454645
NM_001849.4(COL6A2):c.2567T>C (p.Val856Ala) rs886044689
NM_001849.4(COL6A2):c.2568G>A (p.Val856=) rs2123454687
NM_001849.4(COL6A2):c.2570_2581dup (p.Ala860_Arg861insGlnGlnValAla) rs753952104
NM_001849.4(COL6A2):c.2571G>A (p.Glu857=)
NM_001849.4(COL6A2):c.2572C>T (p.Gln858Ter) rs1555877252
NM_001849.4(COL6A2):c.2579C>T (p.Ala860Val)
NM_001849.4(COL6A2):c.2580G>T (p.Ala860=)
NM_001849.4(COL6A2):c.2584C>A (p.Arg862=)
NM_001849.4(COL6A2):c.2586G>A (p.Arg862=)
NM_001849.4(COL6A2):c.2586dup (p.Leu863fs) rs2123454751
NM_001849.4(COL6A2):c.2591C>A (p.Thr864Lys) rs200488881
NM_001849.4(COL6A2):c.2599C>A (p.Arg867=) rs144484744
NM_001849.4(COL6A2):c.2600G>A (p.Arg867Gln) rs61735831
NM_001849.4(COL6A2):c.2603G>A (p.Arg868Lys) rs865872231
NM_001849.4(COL6A2):c.2605G>A (p.Asp869Asn) rs141021828
NM_001849.4(COL6A2):c.2605G>T (p.Asp869Tyr) rs141021828
NM_001849.4(COL6A2):c.2609A>G (p.Asp870Gly)
NM_001849.4(COL6A2):c.2613C>T (p.Asp871=) rs147044688
NM_001849.4(COL6A2):c.2626C>A (p.Arg876Ser) rs387906608
NM_001849.4(COL6A2):c.2629G>A (p.Val877Met) rs369396198
NM_001849.4(COL6A2):c.262G>A (p.Asp88Asn)
NM_001849.4(COL6A2):c.2631G>A (p.Val877=)
NM_001849.4(COL6A2):c.2637G>C (p.Leu879=) rs1339393899
NM_001849.4(COL6A2):c.2637G>T (p.Leu879=)
NM_001849.4(COL6A2):c.2638C>A (p.Leu880Met)
NM_001849.4(COL6A2):c.2638_2656dup (p.Gly886fs)
NM_001849.4(COL6A2):c.263A>G (p.Asp88Gly)
NM_001849.4(COL6A2):c.2643G>A (p.Gln881=) rs908318849
NM_001849.4(COL6A2):c.2645T>G (p.Phe882Cys)
NM_001849.4(COL6A2):c.2663_2664dup (p.Gln889fs) rs2123455043
NM_001849.4(COL6A2):c.2666A>G (p.Gln889Arg)
NM_001849.4(COL6A2):c.266A>G (p.Gln89Arg) rs770956606
NM_001849.4(COL6A2):c.2670G>A (p.Val890=)
NM_001849.4(COL6A2):c.2675T>A (p.Phe892Tyr)
NM_001849.4(COL6A2):c.267G>A (p.Gln89=)
NM_001849.4(COL6A2):c.267G>C (p.Gln89His) rs1452398707
NM_001849.4(COL6A2):c.2684G>A (p.Ser895Asn) rs112139050
NM_001849.4(COL6A2):c.2689_2691del (p.Asn897del)
NM_001849.4(COL6A2):c.268G>A (p.Val90Met)
NM_001849.4(COL6A2):c.2697G>A (p.Thr899=) rs11554669
NM_001849.4(COL6A2):c.2697G>C (p.Thr899=) rs11554669
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=) rs11554669
NM_001849.4(COL6A2):c.2706C>T (p.His902=)
NM_001849.4(COL6A2):c.2710G>A (p.Ala904Thr)
NM_001849.4(COL6A2):c.2718G>A (p.Glu906=)
NM_001849.4(COL6A2):c.2726A>C (p.Gln909Pro)
NM_001849.4(COL6A2):c.2730C>A (p.Tyr910Ter)
NM_001849.4(COL6A2):c.2738_2740del (p.Ser913del) rs777696289
NM_001849.4(COL6A2):c.2741_2743del (p.Phe914del) rs746930351
NM_001849.4(COL6A2):c.2743T>C (p.Ser915Pro) rs1290912034
NM_001849.4(COL6A2):c.2744C>T (p.Ser915Leu)
NM_001849.4(COL6A2):c.2746C>T (p.His916Tyr) rs2123455277
NM_001849.4(COL6A2):c.2750T>C (p.Val917Ala)
NM_001849.4(COL6A2):c.2751G>A (p.Val917=) rs111341650
NM_001849.4(COL6A2):c.2761G>T (p.Val921Leu) rs398123650
NM_001849.4(COL6A2):c.2764G>C (p.Val922Leu)
NM_001849.4(COL6A2):c.2768A>G (p.His923Arg) rs2123455354
NM_001849.4(COL6A2):c.2769C>A (p.His923Gln) rs140419176
NM_001849.4(COL6A2):c.2769C>G (p.His923Gln) rs140419176
NM_001849.4(COL6A2):c.2782A>C (p.Ile928Leu) rs1426096612
NM_001849.4(COL6A2):c.2793_2821del (p.Ser931fs) rs745716104
NM_001849.4(COL6A2):c.2797C>G (p.Arg933Gly)
NM_001849.4(COL6A2):c.2797C>T (p.Arg933Cys) rs1321329142
NM_001849.4(COL6A2):c.2798G>T (p.Arg933Leu) rs374384263
NM_001849.4(COL6A2):c.27C>T (p.Leu9=)
NM_001849.4(COL6A2):c.2811G>A (p.Arg937=) rs200652329
NM_001849.4(COL6A2):c.2818G>A (p.Ala940Thr)
NM_001849.4(COL6A2):c.2820A>G (p.Ala940=) rs769894173
NM_001849.4(COL6A2):c.2826G>A (p.Leu942=) rs768497480
NM_001849.4(COL6A2):c.2826G>C (p.Leu942=) rs768497480
NM_001849.4(COL6A2):c.2828C>T (p.Ser943Phe)
NM_001849.4(COL6A2):c.2832_2927del (p.Phe944_Ala975del) rs2123455541
NM_001849.4(COL6A2):c.2834T>A (p.Val945Glu) rs2123455553
NM_001849.4(COL6A2):c.2843C>G (p.Thr948Arg) rs367980010
NM_001849.4(COL6A2):c.2846_2857dup (p.Asp949_Thr952dup) rs775193167
NM_001849.4(COL6A2):c.2851G>A (p.Val951Ile) rs111630733
NM_001849.4(COL6A2):c.2851G>T (p.Val951Phe) rs111630733
NM_001849.4(COL6A2):c.2855C>G (p.Thr952Arg) rs147670858
NM_001849.4(COL6A2):c.2855C>T (p.Thr952Met) rs147670858
NM_001849.4(COL6A2):c.2856G>C (p.Thr952=) rs138074469
NM_001849.4(COL6A2):c.2858G>A (p.Gly953Asp)
NM_001849.4(COL6A2):c.2865_2866del (p.Asp955fs)
NM_001849.4(COL6A2):c.2871G>A (p.Leu957=) rs548194162
NM_001849.4(COL6A2):c.2871G>C (p.Leu957=) rs548194162
NM_001849.4(COL6A2):c.2873A>C (p.His958Pro)
NM_001849.4(COL6A2):c.2874C>G (p.His958Gln)
NM_001849.4(COL6A2):c.2875G>A (p.Glu959Lys) rs150168522
NM_001849.4(COL6A2):c.2875G>C (p.Glu959Gln) rs150168522
NM_001849.4(COL6A2):c.2877G>T (p.Glu959Asp) rs1274304291
NM_001849.4(COL6A2):c.2878T>C (p.Ser960Pro) rs2123455695
NM_001849.4(COL6A2):c.2880G>T (p.Ser960=)
NM_001849.4(COL6A2):c.2884C>A (p.His962Asn) rs373184224
NM_001849.4(COL6A2):c.2887T>G (p.Ser963Ala) rs771847588
NM_001849.4(COL6A2):c.288C>A (p.Tyr96Ter) rs61735833
NM_001849.4(COL6A2):c.2893C>A (p.Arg965Ser) rs201188174
NM_001849.4(COL6A2):c.2894G>A (p.Arg965His)
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro) rs201854898
NM_001849.4(COL6A2):c.2902_2934dup (p.Asn968_Ser978dup) rs1568948073
NM_001849.4(COL6A2):c.2905G>A (p.Val969Met) rs763443381
NM_001849.4(COL6A2):c.2905G>C (p.Val969Leu) rs763443381
NM_001849.4(COL6A2):c.2908G>A (p.Val970Ile)
NM_001849.4(COL6A2):c.2914A>C (p.Thr972Pro) rs754429992
NM_001849.4(COL6A2):c.2916C>T (p.Thr972=)
NM_001849.4(COL6A2):c.2917G>T (p.Val973Leu) rs145959270
NM_001849.4(COL6A2):c.291C>T (p.Gly97=) rs1007921670
NM_001849.4(COL6A2):c.2925C>G (p.Ala975=) rs2078774154
NM_001849.4(COL6A2):c.2928G>A (p.Leu976=)
NM_001849.4(COL6A2):c.2932A>T (p.Ser978Cys)
NM_001849.4(COL6A2):c.2940G>A (p.Val980=) rs886044694
NM_001849.4(COL6A2):c.2943C>T (p.Asp981=)
NM_001849.4(COL6A2):c.2950_2958dup (p.Val984_Thr986dup) rs762259160
NM_001849.4(COL6A2):c.2961G>T (p.Thr987=) rs149845431
NM_001849.4(COL6A2):c.2962C>G (p.Leu988Val) rs781544781
NM_001849.4(COL6A2):c.2971G>A (p.Gly991Ser)
NM_001849.4(COL6A2):c.2972G>A (p.Gly991Asp)
NM_001849.4(COL6A2):c.2972G>T (p.Gly991Val)
NM_001849.4(COL6A2):c.2977C>G (p.Arg993Gly)
NM_001849.4(COL6A2):c.2978_2979delinsAT (p.Arg993His) rs2123456038
NM_001849.4(COL6A2):c.2979C>G (p.Arg993=) rs6652
NM_001849.4(COL6A2):c.2988G>T (p.Val996=)
NM_001849.4(COL6A2):c.2988dup (p.Phe997fs) rs1555877364
NM_001849.4(COL6A2):c.298C>T (p.His100Tyr)
NM_001849.4(COL6A2):c.2991C>A (p.Phe997Leu) rs1555877365
NM_001849.4(COL6A2):c.2991C>T (p.Phe997=) rs1555877365
NM_001849.4(COL6A2):c.2995G>T (p.Glu999Ter) rs142296092
NM_001849.4(COL6A2):c.2997G>A (p.Glu999=) rs751494076
NM_001849.4(COL6A2):c.2998_3000del (p.Lys1000del) rs750794022
NM_001849.4(COL6A2):c.29T>G (p.Leu10Arg)
NM_001849.4(COL6A2):c.3006_3007insTC (p.Asp1003fs)
NM_001849.4(COL6A2):c.3007G>A (p.Asp1003Asn) rs1601270126
NM_001849.4(COL6A2):c.300C>G (p.His100Gln) rs765941470
NM_001849.4(COL6A2):c.300C>T (p.His100=) rs765941470
NM_001849.4(COL6A2):c.3013C>T (p.Leu1005=) rs2123456173
NM_001849.4(COL6A2):c.3016G>C (p.Ala1006Pro)
NM_001849.4(COL6A2):c.3029T>C (p.Phe1010Ser)
NM_001849.4(COL6A2):c.3031_3042del (p.Phe1011_Phe1014del) rs2078776370
NM_001849.4(COL6A2):c.3033C>T (p.Phe1011=)
NM_001849.4(COL6A2):c.3037C>T (p.Arg1013Cys) rs762516507
NM_001849.4(COL6A2):c.3044T>C (p.Ile1015Thr)
NM_001849.4(COL6A2):c.3044_3047delinsACCA (p.Ile1015_Arg1016delinsAsnHis) rs1601270334
NM_001849.4(COL6A2):c.3051G>C (p.Trp1017Cys) rs2078776827
NM_001849.4(COL6A2):c.3053T>C (p.Ile1018Thr)
NM_001849.4(COL6A2):c.3059_*12dup (p.Ter1020_Ter(1020_?)(?))
NM_001849.4(COL6A2):c.312G>A (p.Gln104=)
NM_001849.4(COL6A2):c.320T>C (p.Val107Ala)
NM_001849.4(COL6A2):c.334G>T (p.Gly112Cys)
NM_001849.4(COL6A2):c.339C>A (p.Ser113Arg) rs1365013453
NM_001849.4(COL6A2):c.345G>A (p.Arg115=) rs138007666
NM_001849.4(COL6A2):c.391G>A (p.Gly131Ser) rs561771249
NM_001849.4(COL6A2):c.393C>T (p.Gly131=)
NM_001849.4(COL6A2):c.396C>T (p.Thr132=)
NM_001849.4(COL6A2):c.399C>T (p.Phe133=) rs547695695
NM_001849.4(COL6A2):c.3G>A (p.Met1Ile) rs2078397134
NM_001849.4(COL6A2):c.403G>A (p.Asp135Asn) rs983938730
NM_001849.4(COL6A2):c.409G>A (p.Ala137Thr) rs982087527
NM_001849.4(COL6A2):c.416C>G (p.Ala139Gly) rs749711324
NM_001849.4(COL6A2):c.422T>C (p.Met141Thr) rs1568925911
NM_001849.4(COL6A2):c.425C>G (p.Thr142Arg)
NM_001849.4(COL6A2):c.425C>T (p.Thr142Met) rs866311790
NM_001849.4(COL6A2):c.430C>T (p.Gln144Ter)
NM_001849.4(COL6A2):c.437G>A (p.Arg146Gln)
NM_001849.4(COL6A2):c.439C>T (p.Gln147Ter) rs2123615453
NM_001849.4(COL6A2):c.453G>C (p.Lys151Asn)
NM_001849.4(COL6A2):c.463C>T (p.His155Tyr)
NM_001849.4(COL6A2):c.484G>A (p.Asp162Asn) rs1216448596
NM_001849.4(COL6A2):c.485_499del (p.Asp162_Thr166del) rs2078413886
NM_001849.4(COL6A2):c.486C>T (p.Asp162=)
NM_001849.4(COL6A2):c.499G>T (p.Gly167Cys)
NM_001849.4(COL6A2):c.513G>A (p.Gly171=) rs1291272464
NM_001849.4(COL6A2):c.514G>A (p.Gly172Ser)
NM_001849.4(COL6A2):c.520_555del (p.Lys174_Ile185del)
NM_001849.4(COL6A2):c.543_735+396del rs2078415602
NM_001849.4(COL6A2):c.557G>T (p.Arg186Leu) rs376291264
NM_001849.4(COL6A2):c.564C>T (p.Phe188=)
NM_001849.4(COL6A2):c.565G>T (p.Ala189Ser) rs765361834
NM_001849.4(COL6A2):c.582G>C (p.Gln194His) rs1601218622
NM_001849.4(COL6A2):c.586C>T (p.Leu196=) rs1222208626
NM_001849.4(COL6A2):c.588G>A (p.Leu196=)
NM_001849.4(COL6A2):c.58G>A (p.Ala20Thr) rs2078398153
NM_001849.4(COL6A2):c.604C>T (p.Arg202Trp)
NM_001849.4(COL6A2):c.607G>A (p.Asp203Asn)
NM_001849.4(COL6A2):c.610A>G (p.Ile204Val)
NM_001849.4(COL6A2):c.620C>G (p.Thr207Arg) rs760395633
NM_001849.4(COL6A2):c.620C>T (p.Thr207Met) rs760395633
NM_001849.4(COL6A2):c.626A>T (p.His209Leu) rs1413478268
NM_001849.4(COL6A2):c.627C>G (p.His209Gln) rs545218705
NM_001849.4(COL6A2):c.627C>T (p.His209=) rs545218705
NM_001849.4(COL6A2):c.641_645del (p.Asn214fs) rs1375040481
NM_001849.4(COL6A2):c.643G>A (p.Asp215Asn) rs563449281
NM_001849.4(COL6A2):c.653C>T (p.Thr218Ile)
NM_001849.4(COL6A2):c.658C>A (p.Leu220Met) rs773058625
NM_001849.4(COL6A2):c.659T>C (p.Leu220Pro) rs1208218678
NM_001849.4(COL6A2):c.662C>T (p.Pro221Leu)
NM_001849.4(COL6A2):c.668C>T (p.Ser223Phe) rs2078418524
NM_001849.4(COL6A2):c.670A>G (p.Thr224Ala)
NM_001849.4(COL6A2):c.675_680del (p.Glu225_Ile226del) rs775693562
NM_001849.4(COL6A2):c.676A>G (p.Ile226Val)
NM_001849.4(COL6A2):c.678C>T (p.Ile226=)
NM_001849.4(COL6A2):c.679G>C (p.Asp227His) rs35881321
NM_001849.4(COL6A2):c.702C>T (p.Ile234=) rs1369161493
NM_001849.4(COL6A2):c.708G>A (p.Lys236=)
NM_001849.4(COL6A2):c.714+18G>A
NM_001849.4(COL6A2):c.714+1G>C rs2078419667
NM_001849.4(COL6A2):c.714+8G>A rs1489436620
NM_001849.4(COL6A2):c.714+8G>T
NM_001849.4(COL6A2):c.715-14T>C
NM_001849.4(COL6A2):c.715-18T>C
NM_001849.4(COL6A2):c.721G>A (p.Glu241Lys)
NM_001849.4(COL6A2):c.734A>G (p.Glu245Gly)
NM_001849.4(COL6A2):c.735+6T>C rs2078423797
NM_001849.4(COL6A2):c.735+9_784del
NM_001849.4(COL6A2):c.736-1G>A rs1601221868
NM_001849.4(COL6A2):c.736-1G>C rs1601221868
NM_001849.4(COL6A2):c.736-2A>G rs1057518925
NM_001849.4(COL6A2):c.736-6T>C
NM_001849.4(COL6A2):c.736-8C>T
NM_001849.4(COL6A2):c.73G>A (p.Val25Ile) rs2123612816
NM_001849.4(COL6A2):c.742A>G (p.Lys248Glu)
NM_001849.4(COL6A2):c.745G>A (p.Val249Met) rs1454103225
NM_001849.4(COL6A2):c.757G>A (p.Glu253Lys)
NM_001849.4(COL6A2):c.759A>C (p.Glu253Asp)
NM_001849.4(COL6A2):c.75C>T (p.Val25=) rs2078398447
NM_001849.4(COL6A2):c.770C>T (p.Pro257Leu)
NM_001849.4(COL6A2):c.780C>T (p.Pro260=) rs1021304559
NM_001849.4(COL6A2):c.784G>T (p.Gly262Cys) rs2123620765
NM_001849.4(COL6A2):c.785G>A (p.Gly262Asp) rs886042943
NM_001849.4(COL6A2):c.785G>T (p.Gly262Val) rs886042943
NM_001849.4(COL6A2):c.794G>A (p.Gly265Glu) rs2078438903
NM_001849.4(COL6A2):c.799A>C (p.Lys267Gln) rs753370790
NM_001849.4(COL6A2):c.801+1G>A rs794727715
NM_001849.4(COL6A2):c.801+1G>T rs794727715
NM_001849.4(COL6A2):c.801+2T>G
NM_001849.4(COL6A2):c.801+2dup rs2123620848
NM_001849.4(COL6A2):c.801+631_882del
NM_001849.4(COL6A2):c.801G>A (p.Lys267=) rs2078439012
NM_001849.4(COL6A2):c.802-2A>G rs886044399
NM_001849.4(COL6A2):c.802-9T>C
NM_001849.4(COL6A2):c.802G>A (p.Gly268Ser) rs2123625485
NM_001849.4(COL6A2):c.802G>C (p.Gly268Arg) rs2123625485
NM_001849.4(COL6A2):c.803G>T (p.Gly268Val) rs397515333
NM_001849.4(COL6A2):c.811G>A (p.Gly271Ser) rs121912940
NM_001849.4(COL6A2):c.812G>T (p.Gly271Val) rs794727788
NM_001849.4(COL6A2):c.820G>A (p.Gly274Ser) rs2078462673
NM_001849.4(COL6A2):c.821G>A (p.Gly274Asp) rs2123625569
NM_001849.4(COL6A2):c.823G>A (p.Glu275Lys)
NM_001849.4(COL6A2):c.826C>T (p.Pro276Ser)
NM_001849.4(COL6A2):c.82C>T (p.Pro28Ser)
NM_001849.4(COL6A2):c.830del (p.Gly277fs) rs1555872819
NM_001849.4(COL6A2):c.837T>A (p.Pro279=)
NM_001849.4(COL6A2):c.838G>C (p.Gly280Arg) rs886043323
NM_001849.4(COL6A2):c.839G>A (p.Gly280Asp) rs1568928804
NM_001849.4(COL6A2):c.83C>G (p.Pro28Arg) rs778546141
NM_001849.4(COL6A2):c.847G>A (p.Gly283Arg) rs267606748
NM_001849.4(COL6A2):c.848G>A (p.Gly283Glu) rs886044088
NM_001849.4(COL6A2):c.848G>T (p.Gly283Val) rs886044088
NM_001849.4(COL6A2):c.852A>G (p.Arg284=)
NM_001849.4(COL6A2):c.855+16C>T
NM_001849.4(COL6A2):c.855+1G>A rs1057517988
NM_001849.4(COL6A2):c.855+1G>C rs1057517988
NM_001849.4(COL6A2):c.855+1G>T rs1057517988
NM_001849.4(COL6A2):c.855+38_856-32del
NM_001849.4(COL6A2):c.855+4_855+7del rs2123625716
NM_001849.4(COL6A2):c.856-15C>T
NM_001849.4(COL6A2):c.856-1G>T
NM_001849.4(COL6A2):c.856-24_856-10del
NM_001849.4(COL6A2):c.856-2A>G rs886044466
NM_001849.4(COL6A2):c.856-9C>T
NM_001849.4(COL6A2):c.856G>A (p.Gly286Arg) rs2123626018
NM_001849.4(COL6A2):c.856G>T (p.Gly286Ter)
NM_001849.4(COL6A2):c.857G>A (p.Gly286Glu) rs727502827
NM_001849.4(COL6A2):c.866G>T (p.Gly289Val) rs886043554
NM_001849.4(COL6A2):c.869T>A (p.Ile290Asn)
NM_001849.4(COL6A2):c.870C>G (p.Ile290Met)
NM_001849.4(COL6A2):c.874G>A (p.Gly292Ser) rs727502828
NM_001849.4(COL6A2):c.874G>C (p.Gly292Arg) rs727502828
NM_001849.4(COL6A2):c.875G>A (p.Gly292Asp)
NM_001849.4(COL6A2):c.875G>T (p.Gly292Val) rs794727855
NM_001849.4(COL6A2):c.881T>C (p.Ile294Thr) rs1568928972
NM_001849.4(COL6A2):c.883G>A (p.Gly295Arg) rs1555872873
NM_001849.4(COL6A2):c.884G>A (p.Gly295Glu) rs2123626138
NM_001849.4(COL6A2):c.884G>T (p.Gly295Val) rs2123626138
NM_001849.4(COL6A2):c.892G>C (p.Gly298Arg) rs797045478
NM_001849.4(COL6A2):c.896C>A (p.Pro299His)
NM_001849.4(COL6A2):c.898A>G (p.Lys300Glu) rs2123626180
NM_001849.4(COL6A2):c.900+1G>A rs886044261
NM_001849.4(COL6A2):c.900+1G>T
NM_001849.4(COL6A2):c.900+5G>A
NM_001849.4(COL6A2):c.900G>A (p.Lys300=)
NM_001849.4(COL6A2):c.901-10C>T rs754039292
NM_001849.4(COL6A2):c.901-11_901-9del
NM_001849.4(COL6A2):c.901-20C>T
NM_001849.4(COL6A2):c.901-20CT[2] rs563354608
NM_001849.4(COL6A2):c.901-3C>G rs112317259
NM_001849.4(COL6A2):c.901-6_903del rs2123627113
NM_001849.4(COL6A2):c.901G>A (p.Gly301Ser) rs886042705
NM_001849.4(COL6A2):c.901G>T (p.Gly301Cys) rs886042705
NM_001849.4(COL6A2):c.902G>A (p.Gly301Asp) rs1555872965
NM_001849.4(COL6A2):c.902G>T (p.Gly301Val) rs1555872965
NM_001849.4(COL6A2):c.911G>T (p.Gly304Val) rs727502832
NM_001849.4(COL6A2):c.913T>C (p.Phe305Leu) rs1472672400
NM_001849.4(COL6A2):c.927+12G>T
NM_001849.4(COL6A2):c.927+14C>T
NM_001849.4(COL6A2):c.927+16T>C rs2123627287
NM_001849.4(COL6A2):c.927+5G>A
NM_001849.4(COL6A2):c.927+5G>C
NM_001849.4(COL6A2):c.927+9_927+21del rs2123627262
NM_001849.4(COL6A2):c.928-11C>T
NM_001849.4(COL6A2):c.928-11del rs2123628057
NM_001849.4(COL6A2):c.928-18G>A
NM_001849.4(COL6A2):c.928-2A>G rs1440070681
NM_001849.4(COL6A2):c.936T>C (p.Phe312=)
NM_001849.4(COL6A2):c.948T>C (p.Gly316=) rs764665426
NM_001849.4(COL6A2):c.954+14G>A rs2123628304
NM_001849.4(COL6A2):c.954+1G>C rs2123628251
NM_001849.4(COL6A2):c.954+3A>G rs2123628260
NM_001849.4(COL6A2):c.954+8G>A rs1377719373
NM_001849.4(COL6A2):c.954G>A (p.Lys318=) rs878854362
NM_001849.4(COL6A2):c.954G>C (p.Lys318Asn) rs878854362
NM_001849.4(COL6A2):c.954G>T (p.Lys318Asn) rs878854362
NM_001849.4(COL6A2):c.955-15T>G
NM_001849.4(COL6A2):c.955-19C>T
NM_001849.4(COL6A2):c.955-1G>A rs886044265
NM_001849.4(COL6A2):c.955-1G>C rs886044265
NM_001849.4(COL6A2):c.955-2A>C rs1555873084
NM_001849.4(COL6A2):c.955-2del rs2078477419
NM_001849.4(COL6A2):c.955-3C>G rs1208931749
NM_001849.4(COL6A2):c.955-3_955-1delinsAA rs1568929639
NM_001849.4(COL6A2):c.959C>T (p.Ala320Val) rs1444127463
NM_001849.4(COL6A2):c.970G>A (p.Ala324Thr)
NM_001849.4(COL6A2):c.974G>T (p.Gly325Val)
NM_001849.4(COL6A2):c.990T>C (p.Asp330=)
NM_001849.4(COL6A2):c.997A>T (p.Lys333Ter)
NM_001849.4(COL6A2):c.998del (p.Lys333fs) rs2123628814
NM_001849.4(COL6A2):c.999+12C>T
NM_001849.4(COL6A2):c.999+15G>C
NM_001849.4(COL6A2):c.999+18C>T
NM_001849.4(COL6A2):c.999+6G>A
NM_001849.4(COL6A2):c.999+9_1053+32del rs2078478648
NM_001849.4(COL6A2):c.999+9_1053+32delinsGCTGAAGGAGGGGTGCAAACGGCCCTTACCCGGTTTCCAGGGTCTCCCTTGCAGCCTTCA rs2123628848
NM_002206.3(ITGA7):c.1009C>T (p.Leu337=) rs1283397936
NM_002206.3(ITGA7):c.1012A>G (p.Ile338Val) rs879008268
NM_002206.3(ITGA7):c.1013T>A (p.Ile338Lys) rs1555163357
NM_002206.3(ITGA7):c.1021G>T (p.Ala341Ser) rs1275951872
NM_002206.3(ITGA7):c.1025C>G (p.Pro342Arg) rs1873179104
NM_002206.3(ITGA7):c.1029C>T (p.Tyr343=) rs750511655
NM_002206.3(ITGA7):c.102C>A (p.Phe34Leu) rs774959390
NM_002206.3(ITGA7):c.1050G>T (p.Glu350Asp)
NM_002206.3(ITGA7):c.1057G>A (p.Gly353Ser)
NM_002206.3(ITGA7):c.1059T>A (p.Gly353=)
NM_002206.3(ITGA7):c.1064T>C (p.Val355Ala) rs1476977532
NM_002206.3(ITGA7):c.1064T>G (p.Val355Gly)
NM_002206.3(ITGA7):c.1071delinsAT (p.Tyr358fs) rs2136033955
NM_002206.3(ITGA7):c.1077G>A (p.Leu359=)
NM_002206.3(ITGA7):c.1083G>A (p.Gln361=)
NM_002206.3(ITGA7):c.1086G>A (p.Gly362=)
NM_002206.3(ITGA7):c.1087G>C (p.Gly363Arg)
NM_002206.3(ITGA7):c.1088del (p.Gly363fs) rs587780362
NM_002206.3(ITGA7):c.1088dup (p.His364fs) rs587780362
NM_002206.3(ITGA7):c.1090C>T (p.His364Tyr)
NM_002206.3(ITGA7):c.1107C>T (p.Ser369=)
NM_002206.3(ITGA7):c.1114C>T (p.Arg372Trp) rs752464052
NM_002206.3(ITGA7):c.1115G>A (p.Arg372Gln) rs1397229961
NM_002206.3(ITGA7):c.1116G>A (p.Arg372=)
NM_002206.3(ITGA7):c.1116G>T (p.Arg372=)
NM_002206.3(ITGA7):c.111C>T (p.Asp37=) rs1555166186
NM_002206.3(ITGA7):c.1127C>T (p.Ser376Phe)
NM_002206.3(ITGA7):c.1128C>T (p.Ser376=)
NM_002206.3(ITGA7):c.1144G>A (p.Gly382Arg)
NM_002206.3(ITGA7):c.1171C>T (p.Leu391Phe) rs886049667
NM_002206.3(ITGA7):c.1193-11G>A
NM_002206.3(ITGA7):c.1193-14C>T
NM_002206.3(ITGA7):c.1205del (p.Gly402fs) rs1565629479
NM_002206.3(ITGA7):c.1207G>A (p.Ala403Thr)
NM_002206.3(ITGA7):c.1212C>A (p.Pro404=)
NM_002206.3(ITGA7):c.1230A>T (p.Lys410Asn) rs770309632
NM_002206.3(ITGA7):c.1236C>T (p.Phe412=) rs368739986
NM_002206.3(ITGA7):c.1237A>C (p.Ile413Leu) rs17857367
NM_002206.3(ITGA7):c.1238T>A (p.Ile413Asn)
NM_002206.3(ITGA7):c.1240T>C (p.Tyr414His)
NM_002206.3(ITGA7):c.1241A>C (p.Tyr414Ser)
NM_002206.3(ITGA7):c.1263T>G (p.Val421=) rs1555162963
NM_002206.3(ITGA7):c.1281+19A>G
NM_002206.3(ITGA7):c.1282-5T>C
NM_002206.3(ITGA7):c.1282G>A (p.Val428Met)
NM_002206.3(ITGA7):c.1300G>A (p.Val434Met)
NM_002206.3(ITGA7):c.1303G>A (p.Gly435Ser) rs1327699722
NM_002206.3(ITGA7):c.1318G>A (p.Gly440Ser)
NM_002206.3(ITGA7):c.1327_1328del (p.Leu443fs)
NM_002206.3(ITGA7):c.1336_1338dup (p.Ser446_Leu447insSer) rs763061281
NM_002206.3(ITGA7):c.1356C>G (p.Asn452Lys)
NM_002206.3(ITGA7):c.1363C>G (p.Pro455Ala)
NM_002206.3(ITGA7):c.1365T>C (p.Pro455=) rs761123599
NM_002206.3(ITGA7):c.1398A>G (p.Ala466=) rs2136027129
NM_002206.3(ITGA7):c.13C>T (p.Arg5Trp)
NM_002206.3(ITGA7):c.1407C>T (p.Phe469=)
NM_002206.3(ITGA7):c.1409+10T>G
NM_002206.3(ITGA7):c.1409+5G>T
NM_002206.3(ITGA7):c.1409+7C>T rs974347459
NM_002206.3(ITGA7):c.1409+9C>A rs758349561
NM_002206.3(ITGA7):c.1410-10C>G rs1872920089
NM_002206.3(ITGA7):c.1410-3del rs773251917
NM_002206.3(ITGA7):c.1410-8A>G rs1555162748
NM_002206.3(ITGA7):c.141G>A (p.Glu47=) rs773307249
NM_002206.3(ITGA7):c.1436A>G (p.His479Arg) rs1872908541
NM_002206.3(ITGA7):c.1446_1453del (p.Ile483fs) rs1474512248
NM_002206.3(ITGA7):c.1452T>C (p.Ala484=)
NM_002206.3(ITGA7):c.1456C>T (p.Arg486Ter) rs372328960
NM_002206.3(ITGA7):c.1462A>T (p.Ile488Phe)
NM_002206.3(ITGA7):c.1464C>T (p.Ile488=) rs202051829
NM_002206.3(ITGA7):c.1465G>A (p.Asp489Asn)
NM_002206.3(ITGA7):c.1474C>T (p.Gln492Ter) rs2136025217
NM_002206.3(ITGA7):c.1477C>T (p.Pro493Ser) rs947331149
NM_002206.3(ITGA7):c.1499C>G (p.Ser500Trp)
NM_002206.3(ITGA7):c.1500G>A (p.Ser500=)
NM_002206.3(ITGA7):c.1505+14G>C rs940004287
NM_002206.3(ITGA7):c.1505+6G>A
NM_002206.3(ITGA7):c.1506-2A>G rs1565627745
NM_002206.3(ITGA7):c.1506-6C>T rs754520530
NM_002206.3(ITGA7):c.1518G>T (p.Arg506Ser) rs1370186788
NM_002206.3(ITGA7):c.1535T>C (p.Ile512Thr)
NM_002206.3(ITGA7):c.1559C>G (p.Pro520Arg) rs886049666
NM_002206.3(ITGA7):c.1567+11T>G rs2136022324
NM_002206.3(ITGA7):c.1567+15C>G
NM_002206.3(ITGA7):c.1567+16C>A rs199504152
NM_002206.3(ITGA7):c.1567+16C>G rs199504152
NM_002206.3(ITGA7):c.1567+18T>C
NM_002206.3(ITGA7):c.1567+1G>A rs1217190017
NM_002206.3(ITGA7):c.1567G>A (p.Ala523Thr) rs762987922
NM_002206.3(ITGA7):c.1568-10C>A
NM_002206.3(ITGA7):c.1568C>G (p.Ala523Gly)
NM_002206.3(ITGA7):c.1578T>C (p.Tyr526=) rs1402276907
NM_002206.3(ITGA7):c.1581G>A (p.Val527=) rs2136020643
NM_002206.3(ITGA7):c.1588G>T (p.Ala530Ser) rs1872768511
NM_002206.3(ITGA7):c.1589C>A (p.Ala530Glu) rs200267194
NM_002206.3(ITGA7):c.1589C>G (p.Ala530Gly)
NM_002206.3(ITGA7):c.1592_1593delinsGG (p.Asp531Gly)
NM_002206.3(ITGA7):c.1601G>A (p.Arg534Gln) rs774516318
NM_002206.3(ITGA7):c.1601G>C (p.Arg534Pro) rs774516318
NM_002206.3(ITGA7):c.1602G>T (p.Arg534=) rs764703944
NM_002206.3(ITGA7):c.1612G>A (p.Gly538Ser) rs1565626956
NM_002206.3(ITGA7):c.1614C>T (p.Gly538=)
NM_002206.3(ITGA7):c.1632G>A (p.Thr544=)
NM_002206.3(ITGA7):c.1635C>T (p.Phe545=) rs2136020061
NM_002206.3(ITGA7):c.1641C>A (p.Ser547Arg) rs1369191520
NM_002206.3(ITGA7):c.1671C>G (p.Ala557=) rs570999139
NM_002206.3(ITGA7):c.1674G>A (p.Ser558=)
NM_002206.3(ITGA7):c.167T>C (p.Val56Ala) rs1268685956
NM_002206.3(ITGA7):c.1700A>G (p.His567Arg)
NM_002206.3(ITGA7):c.1706G>A (p.Arg569Gln) rs1213645649
NM_002206.3(ITGA7):c.1719C>A (p.Asp573Glu) rs530050340
NM_002206.3(ITGA7):c.171C>T (p.Ala57=) rs769129367
NM_002206.3(ITGA7):c.171_181del (p.Leu58fs) rs2136102011
NM_002206.3(ITGA7):c.1738-10C>T
NM_002206.3(ITGA7):c.1738-12T>C
NM_002206.3(ITGA7):c.1738-14C>T rs1479084884
NM_002206.3(ITGA7):c.1738-4C>T rs1200622030
NM_002206.3(ITGA7):c.1738-9T>A
NM_002206.3(ITGA7):c.1738G>A (p.Glu580Lys) rs1338513420
NM_002206.3(ITGA7):c.1756C>A (p.Leu586Ile) rs1378710493
NM_002206.3(ITGA7):c.1767del (p.Ile589fs)
NM_002206.3(ITGA7):c.1768G>T (p.Val590Leu) rs2136015647
NM_002206.3(ITGA7):c.1774A>C (p.Thr592Pro)
NM_002206.3(ITGA7):c.178C>T (p.Arg60Trp) rs374374611
NM_002206.3(ITGA7):c.1793A>C (p.Gln598Pro)
NM_002206.3(ITGA7):c.1801C>A (p.Arg601=)
NM_002206.3(ITGA7):c.1808G>A (p.Arg603Gln)
NM_002206.3(ITGA7):c.180dup (p.Gln61fs) rs1565644465
NM_002206.3(ITGA7):c.1816G>T (p.Ala606Ser)
NM_002206.3(ITGA7):c.1825C>T (p.Gln609Ter) rs148136365
NM_002206.3(ITGA7):c.1830G>A (p.Gly610=)
NM_002206.3(ITGA7):c.1872C>T (p.Ser624=)
NM_002206.3(ITGA7):c.187C>T (p.Gln63Ter) rs1228677393
NM_002206.3(ITGA7):c.1887+12T>A
NM_002206.3(ITGA7):c.1887+14C>T
NM_002206.3(ITGA7):c.1887+2T>C
NM_002206.3(ITGA7):c.1888-5C>T
NM_002206.3(ITGA7):c.1896C>T (p.Phe632=) rs2136009380
NM_002206.3(ITGA7):c.18C>T (p.Ser6=) rs763827095
NM_002206.3(ITGA7):c.1950C>G (p.Val650=) rs780521722
NM_002206.3(ITGA7):c.1952_1953delinsAT (p.Arg651His) rs2136009020
NM_002206.3(ITGA7):c.1954G>A (p.Ala652Thr) rs372579627
NM_002206.3(ITGA7):c.1954G>T (p.Ala652Ser)
NM_002206.3(ITGA7):c.1958G>A (p.Arg653His) rs1872460000
NM_002206.3(ITGA7):c.1966del (p.Thr656fs)
NM_002206.3(ITGA7):c.1A>G (p.Met1Val)
NM_002206.3(ITGA7):c.2003+10dup
NM_002206.3(ITGA7):c.2003+11C>T
NM_002206.3(ITGA7):c.2003+5G>A rs1872444994
NM_002206.3(ITGA7):c.2003+7G>T rs1026026295
NM_002206.3(ITGA7):c.2004-1G>A
NM_002206.3(ITGA7):c.2011G>A (p.Asp671Asn)
NM_002206.3(ITGA7):c.2024C>G (p.Ala675Gly) rs757891625
NM_002206.3(ITGA7):c.2053A>G (p.Ile685Val)
NM_002206.3(ITGA7):c.2054T>C (p.Ile685Thr)
NM_002206.3(ITGA7):c.2059C>T (p.Leu687=) rs1465867726
NM_002206.3(ITGA7):c.206+14C>A
NM_002206.3(ITGA7):c.206+17G>T
NM_002206.3(ITGA7):c.206+18C>G rs1481594612
NM_002206.3(ITGA7):c.206+2T>A
NM_002206.3(ITGA7):c.206+3G>A rs2136101710
NM_002206.3(ITGA7):c.2068A>T (p.Met690Leu) rs2136003763
NM_002206.3(ITGA7):c.207-15_207-10del rs753950289
NM_002206.3(ITGA7):c.207-20G>T rs757996389
NM_002206.3(ITGA7):c.207-9A>G
NM_002206.3(ITGA7):c.2070G>C (p.Met690Ile) rs1872299582
NM_002206.3(ITGA7):c.2075C>A (p.Thr692Asn)
NM_002206.3(ITGA7):c.207G>A (p.Trp69Ter) rs1874440714
NM_002206.3(ITGA7):c.2082G>A (p.Leu694=)
NM_002206.3(ITGA7):c.2088G>A (p.Ser696=) rs1342614050
NM_002206.3(ITGA7):c.2094A>G (p.Pro698=) rs1224102431
NM_002206.3(ITGA7):c.2103C>T (p.Pro701=)
NM_002206.3(ITGA7):c.2110G>T (p.Asp704Tyr) rs1592433547
NM_002206.3(ITGA7):c.2116G>A (p.Asp706Asn)
NM_002206.3(ITGA7):c.2119G>A (p.Asp707Asn)
NM_002206.3(ITGA7):c.2121T>G (p.Asp707Glu)
NM_002206.3(ITGA7):c.2138T>C (p.Leu713Pro) rs2136003155
NM_002206.3(ITGA7):c.2139C>G (p.Leu713=)
NM_002206.3(ITGA7):c.2140C>T (p.Leu714=)
NM_002206.3(ITGA7):c.2143G>A (p.Val715Ile)
NM_002206.3(ITGA7):c.2162T>C (p.Leu721Pro) rs1565622175
NM_002206.3(ITGA7):c.2164C>T (p.His722Tyr) rs1555161168
NM_002206.3(ITGA7):c.2167T>C (p.Tyr723His) rs1565622130
NM_002206.3(ITGA7):c.2169_2171del (p.Tyr723_Ser724delinsTer) rs1872274494
NM_002206.3(ITGA7):c.216G>A (p.Val72=)
NM_002206.3(ITGA7):c.2176G>A (p.Val726Ile) rs2136002840
NM_002206.3(ITGA7):c.2177T>A (p.Val726Asp) rs1872272958
NM_002206.3(ITGA7):c.2179C>T (p.Arg727Trp)
NM_002206.3(ITGA7):c.2182del (p.Ala728fs) rs1565622052
NM_002206.3(ITGA7):c.2183C>A (p.Ala728Asp) rs750267153
NM_002206.3(ITGA7):c.2188G>C (p.Asp730His) rs1872270795
NM_002206.3(ITGA7):c.2196+14G>T
NM_002206.3(ITGA7):c.2196+20A>G
NM_002206.3(ITGA7):c.2196G>A (p.Ala732=)
NM_002206.3(ITGA7):c.2197-18C>T
NM_002206.3(ITGA7):c.2197-2A>G
NM_002206.3(ITGA7):c.2197-8del rs1555161122
NM_002206.3(ITGA7):c.2219A>G (p.Asn740Ser) rs758279149
NM_002206.3(ITGA7):c.2229C>T (p.Ala743=)
NM_002206.3(ITGA7):c.2235T>C (p.His745=) rs1592432508
NM_002206.3(ITGA7):c.2269G>A (p.Gly757Ser)
NM_002206.3(ITGA7):c.226C>T (p.Gln76Ter) rs2136073462
NM_002206.3(ITGA7):c.2273C>T (p.Ala758Val)
NM_002206.3(ITGA7):c.2276del (p.Gln759fs)
NM_002206.3(ITGA7):c.2281A>G (p.Thr761Ala)
NM_002206.3(ITGA7):c.2282C>G (p.Thr761Ser) rs550342721
NM_002206.3(ITGA7):c.2286C>A (p.Phe762Leu)
NM_002206.3(ITGA7):c.2288A>G (p.Tyr763Cys)
NM_002206.3(ITGA7):c.2290C>T (p.Leu764Phe) rs768591509
NM_002206.3(ITGA7):c.2295C>T (p.Ile765=) rs181711509
NM_002206.3(ITGA7):c.2307C>G (p.Ser769=) rs781670676
NM_002206.3(ITGA7):c.2308G>A (p.Gly770Arg) rs757534042
NM_002206.3(ITGA7):c.2328G>T (p.Thr776=) rs369566439
NM_002206.3(ITGA7):c.2331A>G (p.Glu777=)
NM_002206.3(ITGA7):c.2331_2344del (p.Glu777fs) rs2135999822
NM_002206.3(ITGA7):c.2336A>C (p.Glu779Ala)
NM_002206.3(ITGA7):c.2339T>C (p.Val780Ala) rs772845920
NM_002206.3(ITGA7):c.2347C>A (p.Leu783Met) rs1872177936
NM_002206.3(ITGA7):c.2357+12G>A
NM_002206.3(ITGA7):c.2357+12G>T
NM_002206.3(ITGA7):c.2357C>T (p.Thr786Met)
NM_002206.3(ITGA7):c.2358-8C>G rs1175401769
NM_002206.3(ITGA7):c.2363G>A (p.Ser788Asn) rs956532606
NM_002206.3(ITGA7):c.236C>T (p.Ala79Val)
NM_002206.3(ITGA7):c.2380C>A (p.Pro794Thr) rs1872133759
NM_002206.3(ITGA7):c.2387C>T (p.Ser796Phe) rs2135998252
NM_002206.3(ITGA7):c.238C>T (p.Leu80Phe) rs762003289
NM_002206.3(ITGA7):c.2392C>G (p.Arg798Gly) rs755438542
NM_002206.3(ITGA7):c.2397C>T (p.Ala799=)
NM_002206.3(ITGA7):c.2399G>C (p.Arg800Pro) rs143929243
NM_002206.3(ITGA7):c.2418A>G (p.Pro806=) rs1285071627
NM_002206.3(ITGA7):c.2419C>T (p.Leu807=)
NM_002206.3(ITGA7):c.2428G>C (p.Ala810Pro) rs1387658204
NM_002206.3(ITGA7):c.2432+11C>A rs555855033
NM_002206.3(ITGA7):c.2433-3C>T rs1592429145
NM_002206.3(ITGA7):c.2446C>T (p.Gln816Ter) rs1565620275
NM_002206.3(ITGA7):c.2453TCT[2] (p.Phe820del) rs889073101
NM_002206.3(ITGA7):c.2454C>G (p.Leu818=) rs569417690
NM_002206.3(ITGA7):c.2466T>A (p.Gly822=)
NM_002206.3(ITGA7):c.2471T>G (p.Val824Gly) rs2135996532
NM_002206.3(ITGA7):c.2483G>A (p.Arg828Lys)
NM_002206.3(ITGA7):c.2491C>T (p.Gln831Ter)
NM_002206.3(ITGA7):c.2500C>T (p.Arg834Trp) rs770155717
NM_002206.3(ITGA7):c.2535+19G>A
NM_002206.3(ITGA7):c.2535+20C>T
NM_002206.3(ITGA7):c.2536-17CT[2] rs1226019088
NM_002206.3(ITGA7):c.2536-8dup
NM_002206.3(ITGA7):c.253G>A (p.Ala85Thr)
NM_002206.3(ITGA7):c.2571C>A (p.Gly857=)
NM_002206.3(ITGA7):c.2580C>G (p.Phe860Leu) rs771755133
NM_002206.3(ITGA7):c.2585A>G (p.Asn862Ser) rs2135990456
NM_002206.3(ITGA7):c.2590A>G (p.Met864Val)
NM_002206.3(ITGA7):c.2601T>C (p.His867=)
NM_002206.3(ITGA7):c.2604G>A (p.Glu868=)
NM_002206.3(ITGA7):c.2642T>A (p.Val881Asp) rs794727321
NM_002206.3(ITGA7):c.2642T>C (p.Val881Ala)
NM_002206.3(ITGA7):c.2655C>T (p.Gly885=) rs751647692
NM_002206.3(ITGA7):c.2667T>A (p.Pro889=)
NM_002206.3(ITGA7):c.2670del (p.Gln891fs)
NM_002206.3(ITGA7):c.2699A>G (p.Asn900Ser)
NM_002206.3(ITGA7):c.2706C>T (p.Leu902=)
NM_002206.3(ITGA7):c.2710del (p.Leu904fs)
NM_002206.3(ITGA7):c.2712+18G>A
NM_002206.3(ITGA7):c.2712+20G>A
NM_002206.3(ITGA7):c.2712+2T>C rs774985604
NM_002206.3(ITGA7):c.2712+9T>G
NM_002206.3(ITGA7):c.2717T>C (p.Val906Ala)
NM_002206.3(ITGA7):c.2719G>A (p.Asp907Asn) rs2135988000
NM_002206.3(ITGA7):c.2720A>G (p.Asp907Gly) rs1365101018
NM_002206.3(ITGA7):c.2741G>A (p.Arg914Gln)
NM_002206.3(ITGA7):c.2742G>C (p.Arg914=) rs1871774827
NM_002206.3(ITGA7):c.2748G>C (p.Leu916=)
NM_002206.3(ITGA7):c.2749dup (p.Glu917fs) rs1871773510
NM_002206.3(ITGA7):c.2775T>C (p.Gly925=)
NM_002206.3(ITGA7):c.2778G>A (p.Glu926=) rs770758451
NM_002206.3(ITGA7):c.277G>C (p.Ala93Pro) rs777338785
NM_002206.3(ITGA7):c.2780G>T (p.Arg927Leu) rs200712509
NM_002206.3(ITGA7):c.2811G>T (p.Val937=) rs376856133
NM_002206.3(ITGA7):c.2813C>G (p.Ser938Cys)
NM_002206.3(ITGA7):c.2817del (p.Ala940fs)
NM_002206.3(ITGA7):c.2845-16C>A
NM_002206.3(ITGA7):c.284C>G (p.Pro95Arg) rs143749139
NM_002206.3(ITGA7):c.285G>A (p.Pro95=)
NM_002206.3(ITGA7):c.285G>T (p.Pro95=) rs17854601
NM_002206.3(ITGA7):c.2861C>G (p.Thr954Arg) rs142361411
NM_002206.3(ITGA7):c.2861C>T (p.Thr954Met) rs142361411
NM_002206.3(ITGA7):c.2883C>T (p.Ser961=)
NM_002206.3(ITGA7):c.2906G>A (p.Arg969His)
NM_002206.3(ITGA7):c.291C>T (p.Ser97=) rs2136072794
NM_002206.3(ITGA7):c.2931C>A (p.Gly977=)
NM_002206.3(ITGA7):c.2935C>A (p.Leu979Ile) rs1870838499
NM_002206.3(ITGA7):c.2943C>T (p.Asn981=)
NM_002206.3(ITGA7):c.2957A>T (p.Glu986Val) rs1478962916
NM_002206.3(ITGA7):c.2958+13del
NM_002206.3(ITGA7):c.2959-17C>T
NM_002206.3(ITGA7):c.2959-2A>G
NM_002206.3(ITGA7):c.2959-4T>G
NM_002206.3(ITGA7):c.2959-6C>T rs751248425
NM_002206.3(ITGA7):c.2959-7C>G rs947369641
NM_002206.3(ITGA7):c.2969C>T (p.Ala990Val)
NM_002206.3(ITGA7):c.2971G>C (p.Val991Leu) rs1268555212
NM_002206.3(ITGA7):c.2980C>G (p.Leu994Val)
NM_002206.3(ITGA7):c.2988_2989inv (p.Ile997Leu)
NM_002206.3(ITGA7):c.2996G>A (p.Arg999Gln)
NM_002206.3(ITGA7):c.2996G>T (p.Arg999Leu) rs372579814
NM_002206.3(ITGA7):c.29G>A (p.Trp10Ter) rs775325159
NM_002206.3(ITGA7):c.3006C>T (p.Ile1002=) rs2135955748
NM_002206.3(ITGA7):c.3010G>A (p.Val1004Met) rs776269261
NM_002206.3(ITGA7):c.3013A>C (p.Lys1005Gln) rs2135955715
NM_002206.3(ITGA7):c.3027G>C (p.Lys1009Asn)
NM_002206.3(ITGA7):c.3055G>C (p.Val1019Leu)
NM_002206.3(ITGA7):c.3057+12G>A rs767729751
NM_002206.3(ITGA7):c.3057+12G>C rs767729751
NM_002206.3(ITGA7):c.3057+12G>T
NM_002206.3(ITGA7):c.3057+16G>A
NM_002206.3(ITGA7):c.3057+19_3057+20del rs2135955167
NM_002206.3(ITGA7):c.3057+20G>T
NM_002206.3(ITGA7):c.3057+7T>C
NM_002206.3(ITGA7):c.3058-13C>T
NM_002206.3(ITGA7):c.3058-20A>G
NM_002206.3(ITGA7):c.3058-5C>T rs1555158331
NM_002206.3(ITGA7):c.3058-6C>G
NM_002206.3(ITGA7):c.3058-9G>A
NM_002206.3(ITGA7):c.3060C>G (p.Ile1020Met)
NM_002206.3(ITGA7):c.3072A>G (p.Val1024=)
NM_002206.3(ITGA7):c.3075C>G (p.Tyr1025Ter) rs754699820
NM_002206.3(ITGA7):c.3090T>C (p.Ala1030=)
NM_002206.3(ITGA7):c.3108G>A (p.Val1036=) rs1439804414
NM_002206.3(ITGA7):c.3113G>T (p.Trp1038Leu)
NM_002206.3(ITGA7):c.3118G>C (p.Val1040Leu)
NM_002206.3(ITGA7):c.3158C>G (p.Ala1053Gly) rs1239418668
NM_002206.3(ITGA7):c.3158C>T (p.Ala1053Val) rs1239418668
NM_002206.3(ITGA7):c.3166G>C (p.Val1056Leu) rs2135953526
NM_002206.3(ITGA7):c.3169C>A (p.Leu1057Met) rs2135953491
NM_002206.3(ITGA7):c.3183+15_3183+17del rs1403525305
NM_002206.3(ITGA7):c.3183+17G>A rs190974181
NM_002206.3(ITGA7):c.3183+20C>A
NM_002206.3(ITGA7):c.3184-18G>A
NM_002206.3(ITGA7):c.3184-3T>C rs950519835
NM_002206.3(ITGA7):c.3184-5T>A
NM_002206.3(ITGA7):c.3184-6T>C rs1869839658
NM_002206.3(ITGA7):c.3184-6T>G rs1869839658
NM_002206.3(ITGA7):c.3210C>T (p.His1070=) rs773180024
NM_002206.3(ITGA7):c.3218C>A (p.Ala1073Asp) rs2135931760
NM_002206.3(ITGA7):c.3221C>T (p.Thr1074Ile)
NM_002206.3(ITGA7):c.3225G>T (p.Val1075=) rs565075865
NM_002206.3(ITGA7):c.3235C>T (p.His1079Tyr)
NM_002206.3(ITGA7):c.3239C>T (p.Ala1080Val)
NM_002206.3(ITGA7):c.3247A>T (p.Ile1083Phe)
NM_002206.3(ITGA7):c.324C>T (p.Ile108=)
NM_002206.3(ITGA7):c.3290G>T (p.Gly1097Val)
NM_002206.3(ITGA7):c.3316_3325del (p.Ser1106fs) rs2135930888
NM_002206.3(ITGA7):c.3318C>G (p.Ser1106Arg) rs1229031292
NM_002206.3(ITGA7):c.3318C>T (p.Ser1106=) rs1229031292
NM_002206.3(ITGA7):c.3335C>G (p.Pro1112Arg) rs146183145
NM_002206.3(ITGA7):c.334+1G>T rs2136072590
NM_002206.3(ITGA7):c.334+8C>A rs370675255
NM_002206.3(ITGA7):c.3348C>G (p.Pro1116=) rs376336569
NM_002206.3(ITGA7):c.3348C>T (p.Pro1116=) rs376336569
NM_002206.3(ITGA7):c.3349A>C (p.Ile1117Leu) rs1482793424
NM_002206.3(ITGA7):c.3349A>G (p.Ile1117Val)
NM_002206.3(ITGA7):c.335-11C>T
NM_002206.3(ITGA7):c.3355G>A (p.Ala1119Thr)
NM_002206.3(ITGA7):c.3373G>A (p.Glu1125Lys) rs371203166
NM_002206.3(ITGA7):c.3373G>C (p.Glu1125Gln) rs371203166
NM_002206.3(ITGA7):c.3387T>C (p.Asp1129=) rs374209166
NM_002206.3(ITGA7):c.3394C>G (p.Pro1132Ala)
NM_002206.3(ITGA7):c.33G>T (p.Gly11=) rs1875517187
NM_002206.3(ITGA7):c.3405C>T (p.Gly1135=)
NM_002206.3(ITGA7):c.34dup (p.Ala12fs) rs1384460756
NM_002206.3(ITGA7):c.353G>A (p.Ser118Asn) rs2136071414
NM_002206.3(ITGA7):c.380G>C (p.Ser127Thr)
NM_002206.3(ITGA7):c.399T>C (p.Pro133=)
NM_002206.3(ITGA7):c.414+16C>T
NM_002206.3(ITGA7):c.414+17A>G
NM_002206.3(ITGA7):c.415-3C>A
NM_002206.3(ITGA7):c.415-3del rs770809693
NM_002206.3(ITGA7):c.415-6C>T rs147118570
NM_002206.3(ITGA7):c.455A>G (p.Gln152Arg) rs1368214112
NM_002206.3(ITGA7):c.467C>A (p.Thr156Lys) rs375671999
NM_002206.3(ITGA7):c.467C>T (p.Thr156Met) rs375671999
NM_002206.3(ITGA7):c.469C>T (p.Arg157Trp) rs768285629
NM_002206.3(ITGA7):c.475A>G (p.Met159Val) rs749262192
NM_002206.3(ITGA7):c.496C>A (p.Leu166Ile) rs1261268090
NM_002206.3(ITGA7):c.498C>T (p.Leu166=) rs2136056354
NM_002206.3(ITGA7):c.510G>A (p.Leu170=) rs2136056268
NM_002206.3(ITGA7):c.517C>A (p.Arg173=)
NM_002206.3(ITGA7):c.517del (p.Arg173fs) rs2136056222
NM_002206.3(ITGA7):c.559C>T (p.Arg187Cys)
NM_002206.3(ITGA7):c.572A>G (p.His191Arg) rs1565635502
NM_002206.3(ITGA7):c.595C>G (p.Gln199Glu) rs2136055708
NM_002206.3(ITGA7):c.601A>G (p.Thr201Ala) rs1592466319
NM_002206.3(ITGA7):c.602C>T (p.Thr201Ile)
NM_002206.3(ITGA7):c.605C>T (p.Ala202Val) rs1873873897
NM_002206.3(ITGA7):c.60C>T (p.Gly20=)
NM_002206.3(ITGA7):c.622G>A (p.Asp208Asn) rs1168695605
NM_002206.3(ITGA7):c.632A>G (p.Tyr211Cys)
NM_002206.3(ITGA7):c.668A>G (p.Lys223Arg) rs1263731616
NM_002206.3(ITGA7):c.66G>C (p.Leu22=)
NM_002206.3(ITGA7):c.670+1G>A rs1873861004
NM_002206.3(ITGA7):c.671-14C>T
NM_002206.3(ITGA7):c.671-16A>G
NM_002206.3(ITGA7):c.671-1G>A rs777049999
NM_002206.3(ITGA7):c.671-285A>G rs1873675449
NM_002206.3(ITGA7):c.671-5C>A rs180841797
NM_002206.3(ITGA7):c.671-5C>G
NM_002206.3(ITGA7):c.671-5C>T rs180841797
NM_002206.3(ITGA7):c.676C>T (p.Leu226Phe) rs2136047008
NM_002206.3(ITGA7):c.680T>G (p.Phe227Cys)
NM_002206.3(ITGA7):c.689A>G (p.Asn230Ser)
NM_002206.3(ITGA7):c.703G>T (p.Asp235Tyr)
NM_002206.3(ITGA7):c.704A>T (p.Asp235Val)
NM_002206.3(ITGA7):c.705C>T (p.Asp235=)
NM_002206.3(ITGA7):c.708C>G (p.Pro236=) rs555521550
NM_002206.3(ITGA7):c.70G>A (p.Val24Ile)
NM_002206.3(ITGA7):c.745C>T (p.Arg249Trp) rs779668899
NM_002206.3(ITGA7):c.750C>T (p.Leu250=)
NM_002206.3(ITGA7):c.75A>G (p.Glu25=)
NM_002206.3(ITGA7):c.762C>A (p.Ala254=) rs376003902
NM_002206.3(ITGA7):c.762C>T (p.Ala254=) rs376003902
NM_002206.3(ITGA7):c.763G>A (p.Gly255Arg)
NM_002206.3(ITGA7):c.768C>T (p.Asp256=)
NM_002206.3(ITGA7):c.773C>T (p.Ala258Val)
NM_002206.3(ITGA7):c.774C>T (p.Ala258=)
NM_002206.3(ITGA7):c.790+1G>A rs2136045991
NM_002206.3(ITGA7):c.790+5G>A
NM_002206.3(ITGA7):c.790+7A>C
NM_002206.3(ITGA7):c.791-12C>T
NM_002206.3(ITGA7):c.791-4_791-3dup
NM_002206.3(ITGA7):c.793T>C (p.Phe265Leu) rs2136037935
NM_002206.3(ITGA7):c.800T>C (p.Ile267Thr)
NM_002206.3(ITGA7):c.807G>A (p.Ser269=)
NM_002206.3(ITGA7):c.810G>T (p.Gly270=) rs3847675
NM_002206.3(ITGA7):c.81C>T (p.Leu27=)
NM_002206.3(ITGA7):c.824G>C (p.Arg275Pro) rs74867235
NM_002206.3(ITGA7):c.824G>T (p.Arg275Leu)
NM_002206.3(ITGA7):c.832G>A (p.Glu278Lys)
NM_002206.3(ITGA7):c.840C>T (p.Ser280=)
NM_002206.3(ITGA7):c.843T>C (p.Phe281=)
NM_002206.3(ITGA7):c.846G>T (p.Val282=) rs2136037282
NM_002206.3(ITGA7):c.853G>C (p.Ala285Pro) rs2136037242
NM_002206.3(ITGA7):c.859C>A (p.Arg287Ser) rs563941470
NM_002206.3(ITGA7):c.859C>T (p.Arg287Cys) rs563941470
NM_002206.3(ITGA7):c.85T>C (p.Ser29Pro) rs1592497233
NM_002206.3(ITGA7):c.861C>T (p.Arg287=)
NM_002206.3(ITGA7):c.862G>A (p.Ala288Thr)
NM_002206.3(ITGA7):c.933G>A (p.Leu311=)
NM_002206.3(ITGA7):c.933G>C (p.Leu311=) rs1171974152
NM_002206.3(ITGA7):c.943C>T (p.Arg315Cys)
NM_002206.3(ITGA7):c.944G>A (p.Arg315His) rs201994133
NM_002206.3(ITGA7):c.944G>C (p.Arg315Pro)
NM_002206.3(ITGA7):c.987C>T (p.Leu329=)
NM_002206.3(ITGA7):c.996T>C (p.Asp332=) rs2136035925
NM_002206.3(ITGA7):c.998+19G>A
NM_002206.3(ITGA7):c.998+4A>G
NM_002206.3(ITGA7):c.998+5G>T rs931442936
NM_002206.3(ITGA7):c.998+9G>C rs2136035855
NM_003193.5(TBCE):c.*1584G>C rs1572474537
NM_003863.3(DPM2):c.-267T>C rs1831540551
NM_003863.3(DPM2):c.-319G>A rs886063486
NM_003863.3(DPM2):c.-84G>A rs1831537719
NM_003863.4(DPM2):c.*124G>C rs1831491179
NM_003863.4(DPM2):c.*231C>T rs1831489245
NM_003863.4(DPM2):c.*404C>T rs1245531633
NM_003863.4(DPM2):c.*49G>T rs886063481
NM_003863.4(DPM2):c.*510A>G rs1831485679
NM_003863.4(DPM2):c.100A>G (p.Ile34Val)
NM_003863.4(DPM2):c.108_111del (p.Gln37fs) rs756881158
NM_003863.4(DPM2):c.109C>T (p.Gln37Ter)
NM_003863.4(DPM2):c.120C>T (p.Ile40=) rs1588689780
NM_003863.4(DPM2):c.139C>T (p.Arg47Ter) rs549450795
NM_003863.4(DPM2):c.151G>A (p.Val51Ile) rs1831509385
NM_003863.4(DPM2):c.153C>A (p.Val51=)
NM_003863.4(DPM2):c.166_167delinsTT (p.Ala56Phe) rs2131648142
NM_003863.4(DPM2):c.16G>A (p.Asp6Asn) rs1564141716
NM_003863.4(DPM2):c.173G>A (p.Gly58Asp) rs1185338798
NM_003863.4(DPM2):c.178C>T (p.Leu60=) rs2131648105
NM_003863.4(DPM2):c.180G>A (p.Leu60=) rs2131648100
NM_003863.4(DPM2):c.196+12C>T
NM_003863.4(DPM2):c.196+13C>T
NM_003863.4(DPM2):c.196+18C>G
NM_003863.4(DPM2):c.196+19C>T rs769003503
NM_003863.4(DPM2):c.196+20C>T
NM_003863.4(DPM2):c.197G>A (p.Gly66Glu)
NM_003863.4(DPM2):c.208T>C (p.Ser70Pro) rs759597928
NM_003863.4(DPM2):c.212A>G (p.Tyr71Cys)
NM_003863.4(DPM2):c.212_213delinsGC (p.Tyr71Cys) rs1588689182
NM_003863.4(DPM2):c.213_214inv (p.Val72Met)
NM_003863.4(DPM2):c.229A>G (p.Lys77Glu) rs1831494309
NM_003863.4(DPM2):c.237G>A (p.Val79=)
NM_003863.4(DPM2):c.27G>C (p.Val9=)
NM_003863.4(DPM2):c.29del (p.Gly10fs)
NM_003863.4(DPM2):c.3+12A>T
NM_003863.4(DPM2):c.3+14C>T
NM_003863.4(DPM2):c.3+15G>T
NM_003863.4(DPM2):c.3+16T>C
NM_003863.4(DPM2):c.3+3G>A rs1403906360
NM_003863.4(DPM2):c.3+3G>T rs1403906360
NM_003863.4(DPM2):c.35G>A (p.Gly12Asp) rs1224529806
NM_003863.4(DPM2):c.37del (p.Leu13fs) rs1349389319
NM_003863.4(DPM2):c.39C>T (p.Leu13=) rs757467123
NM_003863.4(DPM2):c.4-18G>C
NM_003863.4(DPM2):c.4-1G>C rs797044467
NM_003863.4(DPM2):c.65C>T (p.Thr22Ile)
NM_003863.4(DPM2):c.66C>A (p.Thr22=) rs532790675
NM_003863.4(DPM2):c.66C>G (p.Thr22=) rs532790675
NM_003863.4(DPM2):c.68A>G (p.Tyr23Cys) rs397514503
NM_003863.4(DPM2):c.88C>G (p.Leu30Val) rs886063483
NM_003863.4(DPM2):c.8C>T (p.Thr3Met)
NM_003863.4(DPM2):c.93+14C>T rs1831525625
NM_003863.4(DPM2):c.93+17G>A
NM_003863.4(DPM2):c.93+17G>C
NM_003863.4(DPM2):c.93+5G>A
NM_003863.4(DPM2):c.94-11C>T
NM_003863.4(DPM2):c.94-14del rs760202275
NM_003863.4(DPM2):c.94-18C>G rs577196007
NM_003863.4(DPM2):c.94-19G>C
NM_003863.4(DPM2):c.94-19G>T
NM_003863.4(DPM2):c.94-4C>T rs1588689814
NM_004369.3(COL6A3):c.[6064-5G>A];[6859delC]
NM_004369.4(COL6A3):c.1004C>G (p.Thr335Ser)
NM_004369.4(COL6A3):c.1019G>A (p.Ser340Asn) rs2106378691
NM_004369.4(COL6A3):c.1021C>T (p.Arg341Cys)
NM_004369.4(COL6A3):c.1022G>T (p.Arg341Leu) rs140510298
NM_004369.4(COL6A3):c.1029G>C (p.Glu343Asp)
NM_004369.4(COL6A3):c.1035G>T (p.Gly345=) rs886044426
NM_004369.4(COL6A3):c.1039C>G (p.Pro347Ala)
NM_004369.4(COL6A3):c.1067G>A (p.Gly356Glu) rs2106378611
NM_004369.4(COL6A3):c.1077T>C (p.Ser359=) rs886044010
NM_004369.4(COL6A3):c.1080C>A (p.Asp360Glu)
NM_004369.4(COL6A3):c.1081G>A (p.Glu361Lys)
NM_004369.4(COL6A3):c.108G>A (p.Ala36=) rs374055173
NM_004369.4(COL6A3):c.108G>T (p.Ala36=) rs374055173
NM_004369.4(COL6A3):c.1095G>C (p.Gly365=) rs535498742
NM_004369.4(COL6A3):c.1102_1103delinsAT (p.Ala368Ile) rs2106378544
NM_004369.4(COL6A3):c.1103C>T (p.Ala368Val)
NM_004369.4(COL6A3):c.1104A>C (p.Ala368=)
NM_004369.4(COL6A3):c.1107G>A (p.Leu369=) rs2106378535
NM_004369.4(COL6A3):c.1119C>T (p.Ser373=)
NM_004369.4(COL6A3):c.1131C>G (p.Phe377Leu) rs189772397
NM_004369.4(COL6A3):c.1139G>C (p.Gly380Ala)
NM_004369.4(COL6A3):c.116A>G (p.Asp39Gly) rs2106388893
NM_004369.4(COL6A3):c.1171C>T (p.His391Tyr)
NM_004369.4(COL6A3):c.1174A>G (p.Ile392Val)
NM_004369.4(COL6A3):c.1185T>C (p.Asp395=)
NM_004369.4(COL6A3):c.1186G>A (p.Asp396Asn) rs372071064
NM_004369.4(COL6A3):c.1187A>G (p.Asp396Gly) rs1051157564
NM_004369.4(COL6A3):c.118A>G (p.Ile40Val)
NM_004369.4(COL6A3):c.118ATA[1] (p.Ile41del) rs886042334
NM_004369.4(COL6A3):c.1194G>C (p.Leu398Phe) rs2078180823
NM_004369.4(COL6A3):c.1197G>A (p.Val399=)
NM_004369.4(COL6A3):c.11A>G (p.His4Arg)
NM_004369.4(COL6A3):c.11A>T (p.His4Leu) rs777465480
NM_004369.4(COL6A3):c.1204G>C (p.Val402Leu) rs746277006
NM_004369.4(COL6A3):c.1209G>A (p.Pro403=)
NM_004369.4(COL6A3):c.120A>G (p.Ile40Met)
NM_004369.4(COL6A3):c.1212A>G (p.Glu404=)
NM_004369.4(COL6A3):c.1225G>A (p.Gly409Arg)
NM_004369.4(COL6A3):c.1227G>A (p.Gly409=)
NM_004369.4(COL6A3):c.1228G>A (p.Asp410Asn) rs35914491
NM_004369.4(COL6A3):c.1228G>T (p.Asp410Tyr)
NM_004369.4(COL6A3):c.1234C>T (p.Gln412Ter)
NM_004369.4(COL6A3):c.1243T>C (p.Leu415=)
NM_004369.4(COL6A3):c.124T>G (p.Phe42Val) rs1559280207
NM_004369.4(COL6A3):c.1250C>T (p.Pro417Leu)
NM_004369.4(COL6A3):c.1251G>A (p.Pro417=) rs1162933726
NM_004369.4(COL6A3):c.1279A>G (p.Ile427Val)
NM_004369.4(COL6A3):c.1286T>C (p.Leu429Ser) rs2078177097
NM_004369.4(COL6A3):c.1287G>T (p.Leu429Phe) rs2078177026
NM_004369.4(COL6A3):c.1288A>G (p.Lys430Glu)
NM_004369.4(COL6A3):c.1293G>T (p.Pro431=)
NM_004369.4(COL6A3):c.1298C>T (p.Thr433Ile) rs2106378142
NM_004369.4(COL6A3):c.1303G>T (p.Val435Phe) rs2078176426
NM_004369.4(COL6A3):c.1312+12C>A rs915562937
NM_004369.4(COL6A3):c.1312+12C>G
NM_004369.4(COL6A3):c.1312+19C>G
NM_004369.4(COL6A3):c.1313-442_1595delinsGCAAC
NM_004369.4(COL6A3):c.1316T>C (p.Ile439Thr) rs2106370456
NM_004369.4(COL6A3):c.1323C>T (p.Val441=)
NM_004369.4(COL6A3):c.1335C>T (p.Asp445=)
NM_004369.4(COL6A3):c.1344C>T (p.Phe448=) rs2106370423
NM_004369.4(COL6A3):c.1347G>A (p.Leu449=)
NM_004369.4(COL6A3):c.1350G>A (p.Val450=) rs886043010
NM_004369.4(COL6A3):c.1355G>A (p.Gly452Asp) rs777078456
NM_004369.4(COL6A3):c.136T>G (p.Ser46Ala)
NM_004369.4(COL6A3):c.1372C>T (p.Leu458=)
NM_004369.4(COL6A3):c.1388C>T (p.Ala463Val) rs2106370357
NM_004369.4(COL6A3):c.1390A>G (p.Ile464Val)
NM_004369.4(COL6A3):c.1393C>T (p.Arg465Ter) rs121434554
NM_004369.4(COL6A3):c.141T>C (p.Ser47=) rs2078403487
NM_004369.4(COL6A3):c.1422G>T (p.Arg474Ser) rs2106370324
NM_004369.4(COL6A3):c.1435C>A (p.Gln479Lys)
NM_004369.4(COL6A3):c.1439A>G (p.Asp480Gly) rs2078001580
NM_004369.4(COL6A3):c.144G>C (p.Trp48Cys)
NM_004369.4(COL6A3):c.1452G>T (p.Val484=) rs1574726196
NM_004369.4(COL6A3):c.1455A>T (p.Ala485=)
NM_004369.4(COL6A3):c.1472A>T (p.Asp491Val) rs2106370266
NM_004369.4(COL6A3):c.1476_1477inv (p.Val493Met)
NM_004369.4(COL6A3):c.1483C>A (p.Pro495Thr)
NM_004369.4(COL6A3):c.1492T>C (p.Tyr498His) rs2077999753
NM_004369.4(COL6A3):c.1494T>C (p.Tyr498=)
NM_004369.4(COL6A3):c.1507C>A (p.Pro503Thr)
NM_004369.4(COL6A3):c.1512A>G (p.Thr504=) rs199969722
NM_004369.4(COL6A3):c.1512A>T (p.Thr504=) rs199969722
NM_004369.4(COL6A3):c.1521A>G (p.Glu507=) rs1259919285
NM_004369.4(COL6A3):c.1526T>C (p.Ile509Thr) rs2077998366
NM_004369.4(COL6A3):c.1531G>A (p.Ala511Thr)
NM_004369.4(COL6A3):c.1531G>T (p.Ala511Ser) rs775165275
NM_004369.4(COL6A3):c.1533T>C (p.Ala511=) rs2106370154
NM_004369.4(COL6A3):c.1537C>T (p.Arg513Trp) rs369379463
NM_004369.4(COL6A3):c.1540A>G (p.Lys514Glu)
NM_004369.4(COL6A3):c.1548G>A (p.Lys516=)
NM_004369.4(COL6A3):c.1551C>G (p.Pro517=) rs764955459
NM_004369.4(COL6A3):c.1560C>T (p.Gly520=) rs2106370096
NM_004369.4(COL6A3):c.1568T>C (p.Leu523Pro)
NM_004369.4(COL6A3):c.1580C>G (p.Ser527Cys)
NM_004369.4(COL6A3):c.1582G>A (p.Ala528Thr)
NM_004369.4(COL6A3):c.1583C>G (p.Ala528Gly)
NM_004369.4(COL6A3):c.1587A>T (p.Leu529=) rs574912582
NM_004369.4(COL6A3):c.1593T>C (p.Phe531=)
NM_004369.4(COL6A3):c.159A>G (p.Glu53=) rs1259558140
NM_004369.4(COL6A3):c.1604A>T (p.Asn535Ile)
NM_004369.4(COL6A3):c.1616G>C (p.Ser539Thr)
NM_004369.4(COL6A3):c.161A>G (p.His54Arg)
NM_004369.4(COL6A3):c.1624G>C (p.Gly542Arg)
NM_004369.4(COL6A3):c.1630C>T (p.Arg544Trp)
NM_004369.4(COL6A3):c.1631G>T (p.Arg544Leu)
NM_004369.4(COL6A3):c.1654C>T (p.Leu552Phe)
NM_004369.4(COL6A3):c.1656T>G (p.Leu552=) rs141939225
NM_004369.4(COL6A3):c.1665G>T (p.Leu555=)
NM_004369.4(COL6A3):c.1688A>T (p.Asp563Val)
NM_004369.4(COL6A3):c.1689T>C (p.Asp563=) rs1256532267
NM_004369.4(COL6A3):c.1699C>T (p.Gln567Ter) rs1559261557
NM_004369.4(COL6A3):c.1699_1703del (p.Gln567fs)
NM_004369.4(COL6A3):c.169C>G (p.Leu57Val) rs765665120
NM_004369.4(COL6A3):c.1705G>T (p.Ala569Ser)
NM_004369.4(COL6A3):c.1735G>A (p.Ala579Thr) rs1574725167
NM_004369.4(COL6A3):c.1740T>G (p.Phe580Leu) rs1553562483
NM_004369.4(COL6A3):c.1755G>T (p.Lys585Asn)
NM_004369.4(COL6A3):c.176G>A (p.Arg59Gln)
NM_004369.4(COL6A3):c.1777G>A (p.Glu593Lys)
NM_004369.4(COL6A3):c.1780G>A (p.Glu594Lys)
NM_004369.4(COL6A3):c.1785C>G (p.Ile595Met) rs114278376
NM_004369.4(COL6A3):c.1791C>A (p.Phe597Leu) rs76576170
NM_004369.4(COL6A3):c.1795_1796delinsAT (p.Ser599Ile) rs886043319
NM_004369.4(COL6A3):c.179_180del (p.Glu60fs)
NM_004369.4(COL6A3):c.1804G>T (p.Val602Leu) rs2106369723
NM_004369.4(COL6A3):c.1816G>C (p.Ala606Pro)
NM_004369.4(COL6A3):c.181_182insAG (p.Phe61Ter)
NM_004369.4(COL6A3):c.1825C>A (p.Arg609=)
NM_004369.4(COL6A3):c.182T>C (p.Phe61Ser) rs375649083
NM_004369.4(COL6A3):c.1830C>A (p.Ala610=) rs756709812
NM_004369.4(COL6A3):c.1833C>A (p.Ala611=)
NM_004369.4(COL6A3):c.1839G>A (p.Leu613=)
NM_004369.4(COL6A3):c.183del (p.Leu62fs) rs764524653
NM_004369.4(COL6A3):c.1840C>T (p.Gln614Ter) rs1574724863
NM_004369.4(COL6A3):c.184C>T (p.Leu62=)
NM_004369.4(COL6A3):c.1886G>A (p.Gly629Glu)
NM_004369.4(COL6A3):c.188A>G (p.Tyr63Cys) rs886043105
NM_004369.4(COL6A3):c.1897+16C>G
NM_004369.4(COL6A3):c.1898-10T>C rs573663410
NM_004369.4(COL6A3):c.1898-17dup rs750049890
NM_004369.4(COL6A3):c.1900C>T (p.His634Tyr) rs769257731
NM_004369.4(COL6A3):c.1901A>G (p.His634Arg)
NM_004369.4(COL6A3):c.1908C>G (p.Asn636Lys)
NM_004369.4(COL6A3):c.1915G>A (p.Asp639Asn) rs1181696188
NM_004369.4(COL6A3):c.191A>C (p.Asp64Ala) rs768274647
NM_004369.4(COL6A3):c.1922T>C (p.Ile641Thr)
NM_004369.4(COL6A3):c.1940C>A (p.Ser647Ter) rs2106367443
NM_004369.4(COL6A3):c.1947C>A (p.Asn649Lys)
NM_004369.4(COL6A3):c.1948G>A (p.Val650Ile) rs149187225
NM_004369.4(COL6A3):c.1948G>T (p.Val650Phe)
NM_004369.4(COL6A3):c.1962T>C (p.Asn654=) rs1574721263
NM_004369.4(COL6A3):c.1984G>A (p.Val662Ile)
NM_004369.4(COL6A3):c.1989G>C (p.Met663Ile)
NM_004369.4(COL6A3):c.2000A>G (p.Asn667Ser) rs746265516
NM_004369.4(COL6A3):c.2002A>G (p.Ser668Gly)
NM_004369.4(COL6A3):c.2018A>G (p.Asn673Ser)
NM_004369.4(COL6A3):c.2029C>A (p.Arg677Ser)
NM_004369.4(COL6A3):c.202T>G (p.Ser68Ala)
NM_004369.4(COL6A3):c.2030G>T (p.Arg677Leu) rs35227432
NM_004369.4(COL6A3):c.2036G>A (p.Gly679Asp) rs1325552568
NM_004369.4(COL6A3):c.2042T>G (p.Val681Gly) rs753741086
NM_004369.4(COL6A3):c.2047T>C (p.Phe683Leu)
NM_004369.4(COL6A3):c.2060C>T (p.Pro687Leu) rs2106367262
NM_004369.4(COL6A3):c.2061T>A (p.Pro687=) rs767818130
NM_004369.4(COL6A3):c.2066C>A (p.Thr689Lys)
NM_004369.4(COL6A3):c.2067G>A (p.Thr689=) rs1372723004
NM_004369.4(COL6A3):c.2069A>G (p.Glu690Gly) rs2106367237
NM_004369.4(COL6A3):c.2084C>T (p.Thr695Ile)
NM_004369.4(COL6A3):c.2099C>T (p.Ser700Leu)
NM_004369.4(COL6A3):c.2108T>G (p.Leu703Arg)
NM_004369.4(COL6A3):c.211G>A (p.Val71Met)
NM_004369.4(COL6A3):c.2128C>A (p.Gln710Lys) rs2106367135
NM_004369.4(COL6A3):c.2131C>G (p.Leu711Val) rs2106367128
NM_004369.4(COL6A3):c.2144C>G (p.Ser715Trp)
NM_004369.4(COL6A3):c.2145G>A (p.Ser715=) rs375924639
NM_004369.4(COL6A3):c.2145G>C (p.Ser715=) rs375924639
NM_004369.4(COL6A3):c.2145G>T (p.Ser715=) rs375924639
NM_004369.4(COL6A3):c.217G>T (p.Glu73Ter)
NM_004369.4(COL6A3):c.2180A>C (p.Tyr727Ser) rs113393241
NM_004369.4(COL6A3):c.2180A>G (p.Tyr727Cys) rs113393241
NM_004369.4(COL6A3):c.2183C>T (p.Ala728Val)
NM_004369.4(COL6A3):c.2184C>T (p.Ala728=)
NM_004369.4(COL6A3):c.2185A>G (p.Asn729Asp)
NM_004369.4(COL6A3):c.218A>G (p.Glu73Gly) rs138570455
NM_004369.4(COL6A3):c.2193C>T (p.Phe731=)
NM_004369.4(COL6A3):c.2195C>A (p.Thr732Lys) rs370719148
NM_004369.4(COL6A3):c.2214G>T (p.Arg738Ser) rs1410013839
NM_004369.4(COL6A3):c.2217C>A (p.Ile739=)
NM_004369.4(COL6A3):c.2218C>T (p.Arg740Cys) rs147182340
NM_004369.4(COL6A3):c.2226C>A (p.His742Gln)
NM_004369.4(COL6A3):c.2226C>T (p.His742=) rs376627571
NM_004369.4(COL6A3):c.2227G>A (p.Val743Met)
NM_004369.4(COL6A3):c.2241G>A (p.Leu747=) rs766815447
NM_004369.4(COL6A3):c.2250del (p.Thr751fs)
NM_004369.4(COL6A3):c.2262G>A (p.Gln754=)
NM_004369.4(COL6A3):c.2276A>G (p.Tyr759Cys)
NM_004369.4(COL6A3):c.2287G>A (p.Ala763Thr)
NM_004369.4(COL6A3):c.2289C>T (p.Ala763=)
NM_004369.4(COL6A3):c.2292C>A (p.Asn764Lys)
NM_004369.4(COL6A3):c.2293G>A (p.Ala765Thr)
NM_004369.4(COL6A3):c.22C>G (p.Pro8Ala)
NM_004369.4(COL6A3):c.2302C>G (p.Arg768Gly) rs200722892
NM_004369.4(COL6A3):c.2303G>C (p.Arg768Pro)
NM_004369.4(COL6A3):c.2304C>T (p.Arg768=)
NM_004369.4(COL6A3):c.2316G>A (p.Leu772=) rs2077920362
NM_004369.4(COL6A3):c.231T>C (p.His77=)
NM_004369.4(COL6A3):c.2353G>C (p.Glu785Gln) rs776048975
NM_004369.4(COL6A3):c.2356C>T (p.Leu786Phe)
NM_004369.4(COL6A3):c.2365A>T (p.Ile789Phe)
NM_004369.4(COL6A3):c.2367del (p.Ile789fs) rs2106366689
NM_004369.4(COL6A3):c.2374A>G (p.Asn792Asp) rs1574719707
NM_004369.4(COL6A3):c.238C>G (p.Leu80Val) rs777869450
NM_004369.4(COL6A3):c.2393T>C (p.Leu798Pro) rs939675343
NM_004369.4(COL6A3):c.2395A>G (p.Met799Val) rs1559257612
NM_004369.4(COL6A3):c.2407A>G (p.Ser803Gly)
NM_004369.4(COL6A3):c.2412C>T (p.Ser804=)
NM_004369.4(COL6A3):c.2416C>T (p.Pro806Ser) rs1574719546
NM_004369.4(COL6A3):c.2422T>G (p.Leu808Val)
NM_004369.4(COL6A3):c.2431C>T (p.Gln811Ter) rs1574719512
NM_004369.4(COL6A3):c.2452A>G (p.Thr818Ala) rs2106366553
NM_004369.4(COL6A3):c.2457T>C (p.Tyr819=) rs2106366549
NM_004369.4(COL6A3):c.245A>G (p.Gln82Arg)
NM_004369.4(COL6A3):c.2468G>T (p.Gly823Val)
NM_004369.4(COL6A3):c.2488G>T (p.Ala830Ser) rs77181645
NM_004369.4(COL6A3):c.2493G>A (p.Gln831=) rs988131438
NM_004369.4(COL6A3):c.2495C>T (p.Pro832Leu)
NM_004369.4(COL6A3):c.2497+17G>T
NM_004369.4(COL6A3):c.2497+20G>A
NM_004369.4(COL6A3):c.2497+3A>T
NM_004369.4(COL6A3):c.2497+4_2497+9del
NM_004369.4(COL6A3):c.2497+7C>A rs2077913887
NM_004369.4(COL6A3):c.2497+8T>C rs2106366476
NM_004369.4(COL6A3):c.2497+9C>T rs774198344
NM_004369.4(COL6A3):c.2498-15del
NM_004369.4(COL6A3):c.2501G>A (p.Ser834Asn)
NM_004369.4(COL6A3):c.2502C>G (p.Ser834Arg) rs767437328
NM_004369.4(COL6A3):c.2506C>T (p.Arg836Ter) rs761796175
NM_004369.4(COL6A3):c.2517G>A (p.Leu839=) rs187237497
NM_004369.4(COL6A3):c.2517G>C (p.Leu839=)
NM_004369.4(COL6A3):c.251A>G (p.Asn84Ser)
NM_004369.4(COL6A3):c.2533T>A (p.Ser845Thr)
NM_004369.4(COL6A3):c.2546T>A (p.Val849Glu) rs1574716769
NM_004369.4(COL6A3):c.2570A>G (p.Asp857Gly) rs2077873907
NM_004369.4(COL6A3):c.2575C>G (p.Leu859Val) rs570233756
NM_004369.4(COL6A3):c.2575C>T (p.Leu859Phe)
NM_004369.4(COL6A3):c.2579A>G (p.Tyr860Cys) rs2106364778
NM_004369.4(COL6A3):c.2595G>A (p.Glu865=)
NM_004369.4(COL6A3):c.2596C>T (p.Leu866Phe)
NM_004369.4(COL6A3):c.2604G>A (p.Val868=)
NM_004369.4(COL6A3):c.2605A>C (p.Lys869Gln)
NM_004369.4(COL6A3):c.2608C>T (p.Pro870Ser)
NM_004369.4(COL6A3):c.2612A>G (p.Glu871Gly)
NM_004369.4(COL6A3):c.2613G>A (p.Glu871=) rs1559255553
NM_004369.4(COL6A3):c.2620C>T (p.Arg874Ter) rs1553561409
NM_004369.4(COL6A3):c.2621G>A (p.Arg874Gln)
NM_004369.4(COL6A3):c.2644G>A (p.Asp882Asn)
NM_004369.4(COL6A3):c.2644G>T (p.Asp882Tyr)
NM_004369.4(COL6A3):c.2663C>G (p.Ser888Cys) rs780855121
NM_004369.4(COL6A3):c.2671G>C (p.Asp891His)
NM_004369.4(COL6A3):c.2685T>G (p.Ser895Arg)
NM_004369.4(COL6A3):c.2688G>A (p.Lys896=) rs2106364617
NM_004369.4(COL6A3):c.2698C>G (p.Leu900Val) rs2077868769
NM_004369.4(COL6A3):c.269A>T (p.Glu90Val) rs2078397283
NM_004369.4(COL6A3):c.2707G>A (p.Val903Met) rs890279367
NM_004369.4(COL6A3):c.2717T>A (p.Met906Lys) rs2077868316
NM_004369.4(COL6A3):c.2724C>G (p.Ile908Met)
NM_004369.4(COL6A3):c.2729C>A (p.Thr910Lys) rs189356869
NM_004369.4(COL6A3):c.2729C>T (p.Thr910Met) rs189356869
NM_004369.4(COL6A3):c.2739C>A (p.Ala913=)
NM_004369.4(COL6A3):c.2739C>T (p.Ala913=)
NM_004369.4(COL6A3):c.2750G>A (p.Gly917Asp) rs2106364518
NM_004369.4(COL6A3):c.2751C>T (p.Gly917=)
NM_004369.4(COL6A3):c.275T>C (p.Leu92Pro)
NM_004369.4(COL6A3):c.2766T>C (p.Tyr922=)
NM_004369.4(COL6A3):c.2774G>T (p.Arg925Met)
NM_004369.4(COL6A3):c.2777A>G (p.Tyr926Cys)
NM_004369.4(COL6A3):c.2790G>A (p.Lys930=)
NM_004369.4(COL6A3):c.2794G>C (p.Ala932Pro)
NM_004369.4(COL6A3):c.2808C>A (p.Ile936=) rs116256579
NM_004369.4(COL6A3):c.2809G>A (p.Glu937Lys) rs774872934
NM_004369.4(COL6A3):c.2826G>A (p.Gln942=)
NM_004369.4(COL6A3):c.2835G>A (p.Val945=)
NM_004369.4(COL6A3):c.2844C>T (p.Val948=)
NM_004369.4(COL6A3):c.2862C>T (p.Asp954=)
NM_004369.4(COL6A3):c.2863C>T (p.Arg955Cys) rs886043736
NM_004369.4(COL6A3):c.2879C>G (p.Ala960Gly) rs543253703
NM_004369.4(COL6A3):c.2897G>T (p.Ser966Ile)
NM_004369.4(COL6A3):c.2899G>A (p.Gly967Arg)
NM_004369.4(COL6A3):c.2908C>G (p.Pro970Ala) rs1226873582
NM_004369.4(COL6A3):c.2926A>C (p.Lys976Gln)
NM_004369.4(COL6A3):c.292A>G (p.Thr98Ala)
NM_004369.4(COL6A3):c.2932G>T (p.Ala978Ser) rs768292803
NM_004369.4(COL6A3):c.2937C>A (p.Asp979Glu) rs763515820
NM_004369.4(COL6A3):c.2945A>C (p.Glu982Ala) rs2077857997
NM_004369.4(COL6A3):c.2951A>G (p.Glu984Gly)
NM_004369.4(COL6A3):c.2958C>G (p.Ile986Met) rs145203676
NM_004369.4(COL6A3):c.295A>G (p.Lys99Glu)
NM_004369.4(COL6A3):c.2978T>C (p.Ile993Thr) rs2077856364
NM_004369.4(COL6A3):c.2980C>T (p.Leu994=)
NM_004369.4(COL6A3):c.3002A>G (p.Lys1001Arg)
NM_004369.4(COL6A3):c.3009A>T (p.Gly1003=) rs769667715
NM_004369.4(COL6A3):c.3010G>A (p.Asp1004Asn) rs2106364042
NM_004369.4(COL6A3):c.3011A>T (p.Asp1004Val) rs1194314017
NM_004369.4(COL6A3):c.3021A>T (p.Pro1007=)
NM_004369.4(COL6A3):c.3026T>G (p.Ile1009Arg)
NM_004369.4(COL6A3):c.3040A>C (p.Lys1014Gln) rs114284669
NM_004369.4(COL6A3):c.3042A>G (p.Lys1014=) rs915245460
NM_004369.4(COL6A3):c.3044C>T (p.Ser1015Leu) rs2077853056
NM_004369.4(COL6A3):c.3045A>G (p.Ser1015=) rs886042836
NM_004369.4(COL6A3):c.3051C>G (p.His1017Gln)
NM_004369.4(COL6A3):c.3061C>T (p.Pro1021Ser) rs2077852366
NM_004369.4(COL6A3):c.3071-11C>T
NM_004369.4(COL6A3):c.3071-13G>C
NM_004369.4(COL6A3):c.3071-1G>A
NM_004369.4(COL6A3):c.3071-6T>C
NM_004369.4(COL6A3):c.3071-7C>T rs370229367
NM_004369.4(COL6A3):c.3074C>T (p.Ser1025Leu)
NM_004369.4(COL6A3):c.3091G>C (p.Val1031Leu)
NM_004369.4(COL6A3):c.3105T>C (p.Asp1035=) rs2077798088
NM_004369.4(COL6A3):c.3106G>A (p.Gly1036Ser)
NM_004369.4(COL6A3):c.3108C>T (p.Gly1036=)
NM_004369.4(COL6A3):c.3109T>C (p.Ser1037Pro)
NM_004369.4(COL6A3):c.3110C>G (p.Ser1037Cys) rs2106361725
NM_004369.4(COL6A3):c.3112G>A (p.Glu1038Lys)
NM_004369.4(COL6A3):c.3132C>T (p.Phe1044=)
NM_004369.4(COL6A3):c.3135T>G (p.Pro1045=) rs2106361675
NM_004369.4(COL6A3):c.3138G>T (p.Leu1046=) rs780402445
NM_004369.4(COL6A3):c.3147G>T (p.Glu1049Asp)
NM_004369.4(COL6A3):c.3162G>A (p.Val1054=)
NM_004369.4(COL6A3):c.3164T>A (p.Val1055Glu) rs532449385
NM_004369.4(COL6A3):c.3165G>A (p.Val1055=)
NM_004369.4(COL6A3):c.3169A>T (p.Ser1057Cys) rs1553560705
NM_004369.4(COL6A3):c.3171C>A (p.Ser1057Arg)
NM_004369.4(COL6A3):c.3188A>C (p.Asp1063Ala) rs1238550268
NM_004369.4(COL6A3):c.3189C>T (p.Asp1063=)
NM_004369.4(COL6A3):c.3199G>A (p.Val1067Met) rs148175795
NM_004369.4(COL6A3):c.3223C>A (p.Arg1075=) rs201962257
NM_004369.4(COL6A3):c.3231G>A (p.Arg1077=)
NM_004369.4(COL6A3):c.3235G>A (p.Glu1079Lys) rs762778512
NM_004369.4(COL6A3):c.3252A>G (p.Ser1084=)
NM_004369.4(COL6A3):c.3261C>T (p.Asn1087=)
NM_004369.4(COL6A3):c.3273C>A (p.Val1091=) rs200562443
NM_004369.4(COL6A3):c.3274G>C (p.Val1092Leu)
NM_004369.4(COL6A3):c.3275T>C (p.Val1092Ala)
NM_004369.4(COL6A3):c.3280G>T (p.Ala1094Ser) rs369460632
NM_004369.4(COL6A3):c.3286C>G (p.Arg1096Gly)
NM_004369.4(COL6A3):c.3298C>G (p.Leu1100Val)
NM_004369.4(COL6A3):c.32C>T (p.Ala11Val)
NM_004369.4(COL6A3):c.3304G>A (p.Gly1102Arg) rs2106361380
NM_004369.4(COL6A3):c.3312G>A (p.Pro1104=)
NM_004369.4(COL6A3):c.3314C>T (p.Thr1105Ile)
NM_004369.4(COL6A3):c.3320A>T (p.Asn1107Ile)
NM_004369.4(COL6A3):c.3325G>A (p.Gly1109Arg) rs752924311
NM_004369.4(COL6A3):c.3328G>A (p.Ala1110Thr)
NM_004369.4(COL6A3):c.3336G>A (p.Leu1112=) rs1553560545
NM_004369.4(COL6A3):c.3347T>C (p.Leu1116Pro)
NM_004369.4(COL6A3):c.3354C>T (p.Asn1118=)
NM_004369.4(COL6A3):c.3357C>G (p.Ile1119Met) rs1574709919
NM_004369.4(COL6A3):c.3365G>A (p.Ser1122Asn)
NM_004369.4(COL6A3):c.3371C>A (p.Ala1124Glu)
NM_004369.4(COL6A3):c.3372G>A (p.Ala1124=) rs772443564
NM_004369.4(COL6A3):c.3373G>A (p.Gly1125Arg) rs2106361269
NM_004369.4(COL6A3):c.3382A>G (p.Ile1128Val) rs372844024
NM_004369.4(COL6A3):c.3387A>T (p.Thr1129=)
NM_004369.4(COL6A3):c.3391G>A (p.Gly1131Ser) rs2077786156
NM_004369.4(COL6A3):c.33C>T (p.Ala11=) rs761011715
NM_004369.4(COL6A3):c.3400C>T (p.Gln1134Ter) rs2106361236
NM_004369.4(COL6A3):c.3403C>G (p.Leu1135Val) rs2077785980
NM_004369.4(COL6A3):c.3411C>G (p.Ile1137Met)
NM_004369.4(COL6A3):c.3412G>A (p.Val1138Ile) rs199964760
NM_004369.4(COL6A3):c.3429G>C (p.Arg1143Ser)
NM_004369.4(COL6A3):c.343A>G (p.Thr115Ala) rs2106388440
NM_004369.4(COL6A3):c.3441T>C (p.Asp1147=)
NM_004369.4(COL6A3):c.3454T>A (p.Ser1152Thr) rs2106361118
NM_004369.4(COL6A3):c.3475G>A (p.Gly1159Arg)
NM_004369.4(COL6A3):c.3475G>C (p.Gly1159Arg) rs146313030
NM_004369.4(COL6A3):c.3479C>T (p.Ala1160Val)
NM_004369.4(COL6A3):c.347A>G (p.Asn116Ser)
NM_004369.4(COL6A3):c.3483G>T (p.Val1161=)
NM_004369.4(COL6A3):c.348T>A (p.Asn116Lys) rs2106388428
NM_004369.4(COL6A3):c.3495T>A (p.Ile1165=)
NM_004369.4(COL6A3):c.3498C>A (p.Gly1166=) rs1553560457
NM_004369.4(COL6A3):c.3499A>T (p.Ile1167Phe) rs886042996
NM_004369.4(COL6A3):c.3501C>G (p.Ile1167Met)
NM_004369.4(COL6A3):c.3504dup (p.Asn1169fs)
NM_004369.4(COL6A3):c.3525G>A (p.Met1175Ile)
NM_004369.4(COL6A3):c.3530C>T (p.Thr1177Ile) rs2077780771
NM_004369.4(COL6A3):c.3542T>G (p.Ile1181Ser) rs920105033
NM_004369.4(COL6A3):c.3543C>T (p.Ile1181=)
NM_004369.4(COL6A3):c.3565C>T (p.Pro1189Ser)
NM_004369.4(COL6A3):c.3566C>A (p.Pro1189His)
NM_004369.4(COL6A3):c.3582G>A (p.Leu1194=)
NM_004369.4(COL6A3):c.3584G>A (p.Gly1195Glu)
NM_004369.4(COL6A3):c.3589G>A (p.Val1197Ile) rs748053172
NM_004369.4(COL6A3):c.3600C>T (p.Val1200=) rs768543487
NM_004369.4(COL6A3):c.3605C>A (p.Ser1202Tyr) rs2106360836
NM_004369.4(COL6A3):c.3611G>C (p.Arg1204Thr)
NM_004369.4(COL6A3):c.362G>T (p.Gly121Val)
NM_004369.4(COL6A3):c.3631G>A (p.Glu1211Lys) rs2077777129
NM_004369.4(COL6A3):c.3648G>A (p.Leu1216=)
NM_004369.4(COL6A3):c.3651G>A (p.Gln1217=) rs115065877
NM_004369.4(COL6A3):c.3664C>T (p.Pro1222Ser) rs1553560314
NM_004369.4(COL6A3):c.3666T>C (p.Pro1222=)
NM_004369.4(COL6A3):c.3672G>A (p.Pro1224=) rs547052866
NM_004369.4(COL6A3):c.3679+10G>A
NM_004369.4(COL6A3):c.3679+13C>T
NM_004369.4(COL6A3):c.3679+14T>G
NM_004369.4(COL6A3):c.3679+17_3679+18del rs759774701
NM_004369.4(COL6A3):c.3679+5G>A
NM_004369.4(COL6A3):c.3679+9G>A
NM_004369.4(COL6A3):c.3680-14C>G
NM_004369.4(COL6A3):c.3680-18C>T
NM_004369.4(COL6A3):c.3696G>T (p.Arg1232Ser)
NM_004369.4(COL6A3):c.3709C>G (p.Leu1237Val)
NM_004369.4(COL6A3):c.3710T>G (p.Leu1237Arg)
NM_004369.4(COL6A3):c.3716A>G (p.Asp1239Gly) rs1190794379
NM_004369.4(COL6A3):c.3720G>A (p.Gly1240=)
NM_004369.4(COL6A3):c.3725A>C (p.Gln1242Pro) rs1553559646
NM_004369.4(COL6A3):c.373A>T (p.Ile125Leu) rs368077444
NM_004369.4(COL6A3):c.3741G>A (p.Glu1247=) rs577927810
NM_004369.4(COL6A3):c.3741G>T (p.Glu1247Asp)
NM_004369.4(COL6A3):c.3747G>C (p.Gln1249His)
NM_004369.4(COL6A3):c.3751G>T (p.Val1251Phe) rs199646208
NM_004369.4(COL6A3):c.3758C>A (p.Thr1253Asn)
NM_004369.4(COL6A3):c.3760C>T (p.Leu1254Phe) rs886044373
NM_004369.4(COL6A3):c.3764T>C (p.Ile1255Thr)
NM_004369.4(COL6A3):c.3768G>C (p.Glu1256Asp)
NM_004369.4(COL6A3):c.3778G>T (p.Asp1260Tyr)
NM_004369.4(COL6A3):c.3779A>G (p.Asp1260Gly) rs773456951
NM_004369.4(COL6A3):c.3787G>A (p.Asp1263Asn)
NM_004369.4(COL6A3):c.3795C>A (p.Gly1265=) rs886055808
NM_004369.4(COL6A3):c.3823C>G (p.Gln1275Glu) rs2077710026
NM_004369.4(COL6A3):c.3832G>A (p.Asp1278Asn) rs752309834
NM_004369.4(COL6A3):c.3844G>A (p.Val1282Met) rs535661345
NM_004369.4(COL6A3):c.384C>T (p.Ser128=)
NM_004369.4(COL6A3):c.3850T>A (p.Phe1284Ile) rs2077709263
NM_004369.4(COL6A3):c.3852C>A (p.Phe1284Leu) rs148561729
NM_004369.4(COL6A3):c.3852C>T (p.Phe1284=) rs148561729
NM_004369.4(COL6A3):c.386A>G (p.His129Arg)
NM_004369.4(COL6A3):c.3872G>A (p.Ser1291Asn)
NM_004369.4(COL6A3):c.3873C>G (p.Ser1291Arg)
NM_004369.4(COL6A3):c.3873C>T (p.Ser1291=)
NM_004369.4(COL6A3):c.3885G>A (p.Val1295=) rs2077708134
NM_004369.4(COL6A3):c.3892G>A (p.Ala1298Thr)
NM_004369.4(COL6A3):c.3895G>A (p.Val1299Met) rs899539198
NM_004369.4(COL6A3):c.3909G>A (p.Arg1303=)
NM_004369.4(COL6A3):c.3911C>T (p.Pro1304Leu)
NM_004369.4(COL6A3):c.3913A>G (p.Lys1305Glu)
NM_004369.4(COL6A3):c.3922C>T (p.Arg1308Trp) rs140330124
NM_004369.4(COL6A3):c.3945C>T (p.Ala1315=) rs2106357314
NM_004369.4(COL6A3):c.3955G>A (p.Val1319Met)
NM_004369.4(COL6A3):c.3963G>A (p.Arg1321=)
NM_004369.4(COL6A3):c.3981C>A (p.Pro1327=) rs2106357258
NM_004369.4(COL6A3):c.3989G>T (p.Ser1330Ile) rs779967310
NM_004369.4(COL6A3):c.3991C>A (p.Arg1331Ser) rs750341446
NM_004369.4(COL6A3):c.3991C>T (p.Arg1331Cys) rs750341446
NM_004369.4(COL6A3):c.399del (p.Ala134fs) rs2106388332
NM_004369.4(COL6A3):c.4004G>C (p.Gly1335Ala)
NM_004369.4(COL6A3):c.400G>A (p.Ala134Thr)
NM_004369.4(COL6A3):c.4010C>T (p.Pro1337Leu)
NM_004369.4(COL6A3):c.4011G>A (p.Pro1337=) rs114498197
NM_004369.4(COL6A3):c.4011G>T (p.Pro1337=) rs114498197
NM_004369.4(COL6A3):c.403G>A (p.Gly135Arg)
NM_004369.4(COL6A3):c.4041G>A (p.Lys1347=)
NM_004369.4(COL6A3):c.4041G>T (p.Lys1347Asn) rs781033908
NM_004369.4(COL6A3):c.4042T>C (p.Ser1348Pro)
NM_004369.4(COL6A3):c.4049A>G (p.Asp1350Gly)
NM_004369.4(COL6A3):c.4056G>A (p.Val1352=)
NM_004369.4(COL6A3):c.4060G>A (p.Asp1354Asn)
NM_004369.4(COL6A3):c.4060G>C (p.Asp1354His)
NM_004369.4(COL6A3):c.4067C>T (p.Ala1356Val)
NM_004369.4(COL6A3):c.4070T>G (p.Val1357Gly) rs1480888719
NM_004369.4(COL6A3):c.4075C>A (p.Leu1359Ile) rs2077700902
NM_004369.4(COL6A3):c.4083G>T (p.Gln1361His) rs2106357056
NM_004369.4(COL6A3):c.4089C>T (p.Gly1363=)
NM_004369.4(COL6A3):c.4093G>A (p.Ala1365Thr) rs1460462771
NM_004369.4(COL6A3):c.4094C>T (p.Ala1365Val)
NM_004369.4(COL6A3):c.4095C>G (p.Ala1365=) rs2106357035
NM_004369.4(COL6A3):c.4108G>A (p.Ala1370Thr) rs372234605
NM_004369.4(COL6A3):c.4108G>T (p.Ala1370Ser) rs372234605
NM_004369.4(COL6A3):c.4110C>T (p.Ala1370=) rs1553559241
NM_004369.4(COL6A3):c.4113G>A (p.Arg1371=)
NM_004369.4(COL6A3):c.4113G>C (p.Arg1371Ser)
NM_004369.4(COL6A3):c.4122C>T (p.Asp1374=) rs2106356973
NM_004369.4(COL6A3):c.4124del (p.Gln1375fs) rs886042447
NM_004369.4(COL6A3):c.4149G>A (p.Leu1383=)
NM_004369.4(COL6A3):c.4150A>G (p.Ser1384Gly)
NM_004369.4(COL6A3):c.4152C>T (p.Ser1384=) rs2077697254
NM_004369.4(COL6A3):c.4163T>C (p.Val1388Ala)
NM_004369.4(COL6A3):c.4164G>A (p.Val1388=)
NM_004369.4(COL6A3):c.416G>A (p.Gly139Asp) rs780669785
NM_004369.4(COL6A3):c.4188G>A (p.Glu1396=) rs2077695533
NM_004369.4(COL6A3):c.4218G>A (p.Thr1406=)
NM_004369.4(COL6A3):c.4234A>T (p.Thr1412Ser) rs764522621
NM_004369.4(COL6A3):c.4239A>G (p.Ser1413=) rs759052298
NM_004369.4(COL6A3):c.4252A>G (p.Lys1418Glu) rs1367588379
NM_004369.4(COL6A3):c.4252_4254del (p.Lys1418del) rs886043395
NM_004369.4(COL6A3):c.4253A>G (p.Lys1418Arg)
NM_004369.4(COL6A3):c.4255C>T (p.Leu1419Phe)
NM_004369.4(COL6A3):c.4259T>C (p.Leu1420Ser)
NM_004369.4(COL6A3):c.4265G>A (p.Ser1422Asn)
NM_004369.4(COL6A3):c.4282C>T (p.Pro1428Ser)
NM_004369.4(COL6A3):c.4285+12G>T rs1295105927
NM_004369.4(COL6A3):c.4285+16C>T
NM_004369.4(COL6A3):c.4285+3G>A
NM_004369.4(COL6A3):c.4286-2A>C
NM_004369.4(COL6A3):c.4286-2A>G rs761453030
NM_004369.4(COL6A3):c.4286-7T>G
NM_004369.4(COL6A3):c.4290T>C (p.Val1430=) rs2077626622
NM_004369.4(COL6A3):c.4296T>A (p.Ser1432Arg) rs2077626425
NM_004369.4(COL6A3):c.4308C>G (p.Asp1436Glu) rs775286217
NM_004369.4(COL6A3):c.4309A>C (p.Ile1437Leu) rs144314743
NM_004369.4(COL6A3):c.4310T>C (p.Ile1437Thr) rs2106353352
NM_004369.4(COL6A3):c.4311T>C (p.Ile1437=) rs2646260
NM_004369.4(COL6A3):c.4311T>G (p.Ile1437Met) rs2646260
NM_004369.4(COL6A3):c.4311_4312inv (p.Val1438Ile)
NM_004369.4(COL6A3):c.4312G>T (p.Val1438Phe)
NM_004369.4(COL6A3):c.4313T>C (p.Val1438Ala)
NM_004369.4(COL6A3):c.4314C>T (p.Val1438=)
NM_004369.4(COL6A3):c.4324G>A (p.Asp1442Asn) rs772700553
NM_004369.4(COL6A3):c.4332T>C (p.Ser1444=)
NM_004369.4(COL6A3):c.4363A>G (p.Ile1455Val) rs2077624929
NM_004369.4(COL6A3):c.4367G>A (p.Arg1456Gln) rs2077624807
NM_004369.4(COL6A3):c.4382G>A (p.Arg1461Lys) rs2077624444
NM_004369.4(COL6A3):c.4389T>G (p.Val1463=) rs2106353277
NM_004369.4(COL6A3):c.4390C>G (p.Arg1464Gly)
NM_004369.4(COL6A3):c.4390C>T (p.Arg1464Ter) rs912671116
NM_004369.4(COL6A3):c.4391G>A (p.Arg1464Gln)
NM_004369.4(COL6A3):c.439G>C (p.Val147Leu)
NM_004369.4(COL6A3):c.4405G>A (p.Gly1469Ser) rs771199614
NM_004369.4(COL6A3):c.4407C>A (p.Gly1469=)
NM_004369.4(COL6A3):c.4409C>A (p.Pro1470His) rs2077623565
NM_004369.4(COL6A3):c.4415A>T (p.Lys1472Ile)
NM_004369.4(COL6A3):c.4417_4418delinsAA (p.Val1473Lys) rs2106353213
NM_004369.4(COL6A3):c.4424T>C (p.Val1475Ala) rs1216842831
NM_004369.4(COL6A3):c.4427_4434del (p.Gly1476fs)
NM_004369.4(COL6A3):c.443T>C (p.Val148Ala)
NM_004369.4(COL6A3):c.4443C>G (p.Ser1481Arg) rs2106353172
NM_004369.4(COL6A3):c.4445A>G (p.Asn1482Ser) rs2077622262
NM_004369.4(COL6A3):c.4445A>T (p.Asn1482Ile) rs2077622262
NM_004369.4(COL6A3):c.4447G>A (p.Asp1483Asn)
NM_004369.4(COL6A3):c.4457C>A (p.Pro1486Gln)
NM_004369.4(COL6A3):c.4470G>A (p.Leu1490=)
NM_004369.4(COL6A3):c.4476C>G (p.Thr1492=)
NM_004369.4(COL6A3):c.4488G>A (p.Gln1496=) rs369543806
NM_004369.4(COL6A3):c.4493C>T (p.Pro1498Leu)
NM_004369.4(COL6A3):c.4496T>G (p.Val1499Gly)
NM_004369.4(COL6A3):c.4503C>A (p.Asp1501Glu) rs115551245
NM_004369.4(COL6A3):c.4505C>A (p.Ala1502Asp) rs2106353091
NM_004369.4(COL6A3):c.4505C>T (p.Ala1502Val)
NM_004369.4(COL6A3):c.4510C>A (p.Arg1504=) rs144223596
NM_004369.4(COL6A3):c.4510C>T (p.Arg1504Trp) rs144223596
NM_004369.4(COL6A3):c.4514G>T (p.Arg1505Leu) rs754840728
NM_004369.4(COL6A3):c.4520G>A (p.Arg1507Lys) rs766158387
NM_004369.4(COL6A3):c.4520G>T (p.Arg1507Met) rs766158387
NM_004369.4(COL6A3):c.4521G>A (p.Arg1507=)
NM_004369.4(COL6A3):c.4528G>A (p.Gly1510Arg) rs1293450770
NM_004369.4(COL6A3):c.4529G>C (p.Gly1510Ala)
NM_004369.4(COL6A3):c.4532G>C (p.Gly1511Ala)
NM_004369.4(COL6A3):c.4533del (p.Ser1512fs)
NM_004369.4(COL6A3):c.4534T>A (p.Ser1512Thr) rs1553557796
NM_004369.4(COL6A3):c.4535C>T (p.Ser1512Phe) rs1370846981
NM_004369.4(COL6A3):c.4539A>G (p.Pro1513=) rs1574695218
NM_004369.4(COL6A3):c.4548T>C (p.Thr1516=) rs2106352992
NM_004369.4(COL6A3):c.4549G>A (p.Gly1517Ser)
NM_004369.4(COL6A3):c.4555G>A (p.Ala1519Thr) rs2077618678
NM_004369.4(COL6A3):c.4556C>A (p.Ala1519Asp)
NM_004369.4(COL6A3):c.4565T>C (p.Phe1522Ser)
NM_004369.4(COL6A3):c.4568T>C (p.Val1523Ala)
NM_004369.4(COL6A3):c.4577A>G (p.Asn1526Ser)
NM_004369.4(COL6A3):c.4581C>T (p.Leu1527=) rs1223820832
NM_004369.4(COL6A3):c.45C>G (p.Leu15=)
NM_004369.4(COL6A3):c.4603C>A (p.Arg1535Ser)
NM_004369.4(COL6A3):c.460T>A (p.Ser154Thr) rs1559279425
NM_004369.4(COL6A3):c.4613A>C (p.Asp1538Ala)
NM_004369.4(COL6A3):c.4615G>A (p.Gly1539Arg)
NM_004369.4(COL6A3):c.461C>G (p.Ser154Trp)
NM_004369.4(COL6A3):c.462G>T (p.Ser154=)
NM_004369.4(COL6A3):c.4635C>T (p.Val1545=)
NM_004369.4(COL6A3):c.4644G>A (p.Leu1548=) rs1017491163
NM_004369.4(COL6A3):c.4647T>A (p.Gly1549=)
NM_004369.4(COL6A3):c.4667T>A (p.Val1556Glu) rs375207869
NM_004369.4(COL6A3):c.4668G>A (p.Val1556=)
NM_004369.4(COL6A3):c.4678G>A (p.Ala1560Thr) rs371631320
NM_004369.4(COL6A3):c.4678G>T (p.Ala1560Ser)
NM_004369.4(COL6A3):c.4684G>T (p.Val1562Leu) rs1553557605
NM_004369.4(COL6A3):c.4688T>C (p.Ile1563Thr)
NM_004369.4(COL6A3):c.4689C>G (p.Ile1563Met) rs201178064
NM_004369.4(COL6A3):c.4690C>G (p.Arg1564Gly) rs200825417
NM_004369.4(COL6A3):c.4698G>A (p.Ser1566=)
NM_004369.4(COL6A3):c.4709G>A (p.Ser1570Asn) rs1473351823
NM_004369.4(COL6A3):c.4720G>A (p.Gly1574Arg) rs1340303980
NM_004369.4(COL6A3):c.4729A>G (p.Asn1577Asp) rs1559239453
NM_004369.4(COL6A3):c.4735G>A (p.Asp1579Asn)
NM_004369.4(COL6A3):c.4739G>T (p.Arg1580Ile)
NM_004369.4(COL6A3):c.4744G>T (p.Glu1582Ter)
NM_004369.4(COL6A3):c.4749G>A (p.Leu1583=)
NM_004369.4(COL6A3):c.4759A>G (p.Thr1587Ala) rs745755603
NM_004369.4(COL6A3):c.4765G>C (p.Asp1589His) rs904372024
NM_004369.4(COL6A3):c.4767C>T (p.Asp1589=)
NM_004369.4(COL6A3):c.4776G>T (p.Leu1592=) rs2077611451
NM_004369.4(COL6A3):c.4786G>T (p.Val1596Leu) rs886042267
NM_004369.4(COL6A3):c.4787T>C (p.Val1596Ala) rs1559239279
NM_004369.4(COL6A3):c.4817A>T (p.Glu1606Val) rs1064796167
NM_004369.4(COL6A3):c.4825A>G (p.Ile1609Val)
NM_004369.4(COL6A3):c.4826T>A (p.Ile1609Asn)
NM_004369.4(COL6A3):c.4832A>G (p.Asn1611Ser) rs2106352582
NM_004369.4(COL6A3):c.4837T>C (p.Phe1613Leu)
NM_004369.4(COL6A3):c.483C>T (p.Pro161=) rs2106388145
NM_004369.4(COL6A3):c.4849G>T (p.Ala1617Ser) rs200433282
NM_004369.4(COL6A3):c.4862C>T (p.Ala1621Val) rs1168631702
NM_004369.4(COL6A3):c.4863A>T (p.Ala1621=)
NM_004369.4(COL6A3):c.4873G>A (p.Val1625Met) rs398124121
NM_004369.4(COL6A3):c.4873G>T (p.Val1625Leu) rs398124121
NM_004369.4(COL6A3):c.4899del (p.Glu1634fs) rs2077607833
NM_004369.4(COL6A3):c.4900+3A>G rs894493736
NM_004369.4(COL6A3):c.4900+9C>A rs117345850
NM_004369.4(COL6A3):c.4901-9C>G
NM_004369.4(COL6A3):c.4917C>G (p.Asp1639Glu) rs1553556773
NM_004369.4(COL6A3):c.4921G>A (p.Val1641Met)
NM_004369.4(COL6A3):c.4922T>A (p.Val1641Glu) rs1559237565
NM_004369.4(COL6A3):c.4924T>C (p.Phe1642Leu)
NM_004369.4(COL6A3):c.4929G>C (p.Leu1643=)
NM_004369.4(COL6A3):c.4942A>G (p.Ile1648Val) rs941055048
NM_004369.4(COL6A3):c.4944C>A (p.Ile1648=)
NM_004369.4(COL6A3):c.4950C>G (p.Phe1650Leu) rs1574991145
NM_004369.4(COL6A3):c.4950_4963del (p.Arg1651fs)
NM_004369.4(COL6A3):c.4957G>T (p.Asp1653Tyr) rs1574991130
NM_004369.4(COL6A3):c.4958A>T (p.Asp1653Val)
NM_004369.4(COL6A3):c.4969G>A (p.Glu1657Lys) rs1194443961
NM_004369.4(COL6A3):c.496A>G (p.Lys166Glu)
NM_004369.4(COL6A3):c.4974G>T (p.Val1658=)
NM_004369.4(COL6A3):c.4976_4978del (p.Leu1659del)
NM_004369.4(COL6A3):c.4978C>T (p.Arg1660Cys) rs1553556695
NM_004369.4(COL6A3):c.497A>G (p.Lys166Arg)
NM_004369.4(COL6A3):c.4984G>T (p.Val1662Leu) rs886043879
NM_004369.4(COL6A3):c.498G>A (p.Lys166=) rs2106388118
NM_004369.4(COL6A3):c.5002A>G (p.Thr1668Ala)
NM_004369.4(COL6A3):c.5004A>C (p.Thr1668=)
NM_004369.4(COL6A3):c.500C>T (p.Ser167Phe) rs1028347478
NM_004369.4(COL6A3):c.5019C>A (p.Gly1673=)
NM_004369.4(COL6A3):c.5035G>A (p.Gly1679Arg) rs2106350905
NM_004369.4(COL6A3):c.5036G>A (p.Gly1679Glu) rs121434553
NM_004369.4(COL6A3):c.5067C>A (p.Asp1689Glu) rs370475865
NM_004369.4(COL6A3):c.5067C>T (p.Asp1689=) rs370475865
NM_004369.4(COL6A3):c.5078T>C (p.Leu1693Pro)
NM_004369.4(COL6A3):c.5083G>A (p.Asp1695Asn)
NM_004369.4(COL6A3):c.5084A>T (p.Asp1695Val) rs147231661
NM_004369.4(COL6A3):c.5086T>A (p.Phe1696Ile)
NM_004369.4(COL6A3):c.5146C>T (p.His1716Tyr)
NM_004369.4(COL6A3):c.5148C>T (p.His1716=) rs114845780
NM_004369.4(COL6A3):c.5156C>T (p.Thr1719Ile)
NM_004369.4(COL6A3):c.5159A>G (p.Lys1720Arg) rs2077571169
NM_004369.4(COL6A3):c.5163G>T (p.Val1721=)
NM_004369.4(COL6A3):c.5165G>A (p.Gly1722Asp) rs1553556546
NM_004369.4(COL6A3):c.5166C>T (p.Gly1722=)
NM_004369.4(COL6A3):c.5168T>G (p.Leu1723Arg)
NM_004369.4(COL6A3):c.516G>A (p.Val172=) rs2106388091
NM_004369.4(COL6A3):c.5172G>A (p.Glu1724=)
NM_004369.4(COL6A3):c.5177T>G (p.Leu1726Arg) rs121434555
NM_004369.4(COL6A3):c.5210G>A (p.Ser1737Asn)
NM_004369.4(COL6A3):c.5214C>T (p.Arg1738=)
NM_004369.4(COL6A3):c.5215C>A (p.Leu1739Met) rs2077569879
NM_004369.4(COL6A3):c.5221C>A (p.Gln1741Lys)
NM_004369.4(COL6A3):c.5224C>A (p.Arg1742=) rs578249894
NM_004369.4(COL6A3):c.5224C>T (p.Arg1742Trp) rs578249894
NM_004369.4(COL6A3):c.5225G>A (p.Arg1742Gln) rs886042855
NM_004369.4(COL6A3):c.5231C>T (p.Pro1744Leu)
NM_004369.4(COL6A3):c.5269G>C (p.Glu1757Gln)
NM_004369.4(COL6A3):c.526G>T (p.Gly176Ter)
NM_004369.4(COL6A3):c.5272G>A (p.Asp1758Asn) rs536364005
NM_004369.4(COL6A3):c.5276C>G (p.Ala1759Gly) rs150200531
NM_004369.4(COL6A3):c.5281G>A (p.Asp1761Asn)
NM_004369.4(COL6A3):c.5305A>T (p.Arg1769Trp) rs2106350563
NM_004369.4(COL6A3):c.5306G>C (p.Arg1769Thr)
NM_004369.4(COL6A3):c.5307G>T (p.Arg1769Ser) rs755698278
NM_004369.4(COL6A3):c.5308G>C (p.Gly1770Arg) rs763289509
NM_004369.4(COL6A3):c.5311del (p.Val1771fs)
NM_004369.4(COL6A3):c.5318T>C (p.Val1773Ala) rs771598463
NM_004369.4(COL6A3):c.5330G>A (p.Gly1777Glu)
NM_004369.4(COL6A3):c.534G>C (p.Glu178Asp) rs1375292407
NM_004369.4(COL6A3):c.5351A>G (p.Glu1784Gly) rs2077565368
NM_004369.4(COL6A3):c.5356G>A (p.Val1786Ile) rs2106350461
NM_004369.4(COL6A3):c.5372C>A (p.Ser1791Tyr)
NM_004369.4(COL6A3):c.5373C>T (p.Ser1791=)
NM_004369.4(COL6A3):c.5383A>G (p.Thr1795Ala)
NM_004369.4(COL6A3):c.538G>T (p.Ala180Ser)
NM_004369.4(COL6A3):c.53C>T (p.Ser18Leu)
NM_004369.4(COL6A3):c.5403C>A (p.Asn1801Lys) rs114357878
NM_004369.4(COL6A3):c.5412G>A (p.Glu1804=)
NM_004369.4(COL6A3):c.5415G>A (p.Leu1805=)
NM_004369.4(COL6A3):c.5420A>T (p.Glu1807Val) rs2077563075
NM_004369.4(COL6A3):c.5426G>A (p.Ser1809Asn) rs1553556280
NM_004369.4(COL6A3):c.5428G>A (p.Glu1810Lys)
NM_004369.4(COL6A3):c.5428G>C (p.Glu1810Gln) rs1463075616
NM_004369.4(COL6A3):c.5433A>G (p.Gln1811=) rs2106350355
NM_004369.4(COL6A3):c.5452G>A (p.Asp1818Asn)
NM_004369.4(COL6A3):c.5456C>T (p.Ala1819Val) rs764242694
NM_004369.4(COL6A3):c.5459T>C (p.Met1820Thr)
NM_004369.4(COL6A3):c.5479G>A (p.Gly1827Ser) rs1440752292
NM_004369.4(COL6A3):c.5480del (p.Gly1827fs) rs777304794
NM_004369.4(COL6A3):c.5494G>T (p.Ala1832Ser)
NM_004369.4(COL6A3):c.5500+14T>A
NM_004369.4(COL6A3):c.5500+17G>T
NM_004369.4(COL6A3):c.5500+20T>C rs2077560317
NM_004369.4(COL6A3):c.5500+3A>C rs1345603228
NM_004369.4(COL6A3):c.5500+8C>G rs2077560922
NM_004369.4(COL6A3):c.5501-16C>A
NM_004369.4(COL6A3):c.5501-17G>T rs200723656
NM_004369.4(COL6A3):c.5501-7T>G
NM_004369.4(COL6A3):c.5501C>A (p.Ala1834Asp)
NM_004369.4(COL6A3):c.5504G>C (p.Cys1835Ser) rs1559235332
NM_004369.4(COL6A3):c.5513A>G (p.Asp1838Gly)
NM_004369.4(COL6A3):c.5524G>A (p.Gly1842Arg)
NM_004369.4(COL6A3):c.5534G>C (p.Gly1845Ala) rs747200439
NM_004369.4(COL6A3):c.5550T>C (p.Asn1850=)
NM_004369.4(COL6A3):c.5552T>C (p.Val1851Ala) rs1559235183
NM_004369.4(COL6A3):c.5568G>A (p.Lys1856=) rs2106349387
NM_004369.4(COL6A3):c.5578T>C (p.Ser1860Pro)
NM_004369.4(COL6A3):c.5581A>T (p.Lys1861Ter)
NM_004369.4(COL6A3):c.5583G>T (p.Lys1861Asn) rs906293407
NM_004369.4(COL6A3):c.5590G>A (p.Ala1864Thr) rs756521643
NM_004369.4(COL6A3):c.5590G>T (p.Ala1864Ser) rs756521643
NM_004369.4(COL6A3):c.5593A>G (p.Ile1865Val)
NM_004369.4(COL6A3):c.5597T>C (p.Leu1866Ser) rs1465215888
NM_004369.4(COL6A3):c.5605A>G (p.Ile1869Val)
NM_004369.4(COL6A3):c.5632_5633delinsCC (p.Ser1878Pro) rs1559234936
NM_004369.4(COL6A3):c.563T>C (p.Ile188Thr)
NM_004369.4(COL6A3):c.5645C>T (p.Ser1882Leu) rs368943871
NM_004369.4(COL6A3):c.5649C>T (p.Pro1883=) rs886044430
NM_004369.4(COL6A3):c.5650A>G (p.Thr1884Ala)
NM_004369.4(COL6A3):c.5653G>A (p.Val1885Met)
NM_004369.4(COL6A3):c.5659G>T (p.Val1887Leu)
NM_004369.4(COL6A3):c.565G>A (p.Ala189Thr)
NM_004369.4(COL6A3):c.5668G>A (p.Val1890Met)
NM_004369.4(COL6A3):c.5678C>A (p.Thr1893Lys) rs143389941
NM_004369.4(COL6A3):c.5685G>A (p.Ser1895=) rs1026411798
NM_004369.4(COL6A3):c.5688C>A (p.Gly1896=)
NM_004369.4(COL6A3):c.5689C>T (p.Pro1897Ser)
NM_004369.4(COL6A3):c.5691G>A (p.Pro1897=)
NM_004369.4(COL6A3):c.56G>A (p.Gly19Asp)
NM_004369.4(COL6A3):c.5705A>G (p.Asp1902Gly)
NM_004369.4(COL6A3):c.5713G>A (p.Glu1905Lys)
NM_004369.4(COL6A3):c.5731C>T (p.Leu1911Phe) rs2106349155
NM_004369.4(COL6A3):c.5733C>T (p.Leu1911=)
NM_004369.4(COL6A3):c.5752C>A (p.Arg1918Ser) rs750367811
NM_004369.4(COL6A3):c.5752C>G (p.Arg1918Gly)
NM_004369.4(COL6A3):c.5752C>T (p.Arg1918Cys)
NM_004369.4(COL6A3):c.5753G>A (p.Arg1918His) rs139230842
NM_004369.4(COL6A3):c.575C>G (p.Pro192Arg)
NM_004369.4(COL6A3):c.5765C>G (p.Pro1922Arg) rs1351246573
NM_004369.4(COL6A3):c.5768A>G (p.Tyr1923Cys) rs1574987599
NM_004369.4(COL6A3):c.576G>A (p.Pro192=) rs141560881
NM_004369.4(COL6A3):c.576G>T (p.Pro192=) rs141560881
NM_004369.4(COL6A3):c.5777C>A (p.Thr1926Lys)
NM_004369.4(COL6A3):c.5788C>T (p.Leu1930=)
NM_004369.4(COL6A3):c.5794G>A (p.Val1932Ile) rs113817270
NM_004369.4(COL6A3):c.5804A>G (p.Asn1935Ser) rs1574987505
NM_004369.4(COL6A3):c.5806A>G (p.Lys1936Glu)
NM_004369.4(COL6A3):c.580A>G (p.Asn194Asp) rs2078384466
NM_004369.4(COL6A3):c.5833G>A (p.Val1945Met) rs113332380
NM_004369.4(COL6A3):c.5838+1G>T rs1559234260
NM_004369.4(COL6A3):c.5838+5G>A rs1553555753
NM_004369.4(COL6A3):c.5838+9G>C
NM_004369.4(COL6A3):c.5839-9T>C rs745307761
NM_004369.4(COL6A3):c.5839-9T>G
NM_004369.4(COL6A3):c.5842G>T (p.Val1948Phe) rs1454153037
NM_004369.4(COL6A3):c.5844C>T (p.Val1948=) rs2106347308
NM_004369.4(COL6A3):c.584T>C (p.Met195Thr) rs2078384209
NM_004369.4(COL6A3):c.5879C>T (p.Ala1960Val)
NM_004369.4(COL6A3):c.587A>G (p.His196Arg)
NM_004369.4(COL6A3):c.5881G>A (p.Asp1961Asn)
NM_004369.4(COL6A3):c.5892A>T (p.Arg1964Ser)
NM_004369.4(COL6A3):c.5893G>A (p.Ala1965Thr) rs1364239110
NM_004369.4(COL6A3):c.5895A>T (p.Ala1965=)
NM_004369.4(COL6A3):c.5896T>G (p.Ser1966Ala) rs200110562
NM_004369.4(COL6A3):c.5897C>A (p.Ser1966Tyr) rs2077502544
NM_004369.4(COL6A3):c.5900A>C (p.Glu1967Ala) rs773896666
NM_004369.4(COL6A3):c.5908C>T (p.Arg1970Cys) rs886042371
NM_004369.4(COL6A3):c.5918-11T>C
NM_004369.4(COL6A3):c.5918-17T>C rs2106346191
NM_004369.4(COL6A3):c.5918-7T>G rs1004578583
NM_004369.4(COL6A3):c.5921T>C (p.Val1974Ala)
NM_004369.4(COL6A3):c.5923C>T (p.Arg1975Cys)
NM_004369.4(COL6A3):c.5924G>A (p.Arg1975His)
NM_004369.4(COL6A3):c.5938G>C (p.Val1980Leu)
NM_004369.4(COL6A3):c.5944C>T (p.Leu1982Phe)
NM_004369.4(COL6A3):c.5946dup (p.Glu1983Ter)
NM_004369.4(COL6A3):c.5951G>A (p.Arg1984Gln) rs1362987398
NM_004369.4(COL6A3):c.5957T>G (p.Val1986Gly) rs558534346
NM_004369.4(COL6A3):c.595A>C (p.Asn199His)
NM_004369.4(COL6A3):c.5964G>A (p.Leu1988=)
NM_004369.4(COL6A3):c.5977C>T (p.His1993Tyr) rs1559231403
NM_004369.4(COL6A3):c.5982G>T (p.Leu1994=)
NM_004369.4(COL6A3):c.5989G>A (p.Gly1997Arg) rs1326219992
NM_004369.4(COL6A3):c.5992C>T (p.Arg1998Ter)
NM_004369.4(COL6A3):c.5996G>A (p.Gly1999Glu)
NM_004369.4(COL6A3):c.5997G>A (p.Gly1999=) rs372028656
NM_004369.4(COL6A3):c.6022C>G (p.Leu2008Val) rs1211265308
NM_004369.4(COL6A3):c.6023T>G (p.Leu2008Arg)
NM_004369.4(COL6A3):c.6063+12_6063+13dup rs11385011
NM_004369.4(COL6A3):c.6063+13T>A
NM_004369.4(COL6A3):c.6063+13dup rs11385011
NM_004369.4(COL6A3):c.6063+14A>T rs1242577749
NM_004369.4(COL6A3):c.6063+14_6063+15insG rs2106345949
NM_004369.4(COL6A3):c.6063+5dup rs2077478134
NM_004369.4(COL6A3):c.6064-11C>T
NM_004369.4(COL6A3):c.6064-16C>A
NM_004369.4(COL6A3):c.6064-6C>G rs202091342
NM_004369.4(COL6A3):c.6064-7T>G
NM_004369.4(COL6A3):c.6064-8T>G rs2106344303
NM_004369.4(COL6A3):c.6066C>T (p.Asp2022=) rs886044237
NM_004369.4(COL6A3):c.6071T>C (p.Ile2024Thr)
NM_004369.4(COL6A3):c.6076G>A (p.Glu2026Lys)
NM_004369.4(COL6A3):c.6077A>G (p.Glu2026Gly) rs2106344266
NM_004369.4(COL6A3):c.6086G>A (p.Cys2029Tyr) rs758893173
NM_004369.4(COL6A3):c.6094G>T (p.Val2032Phe) rs1316305394
NM_004369.4(COL6A3):c.610A>T (p.Thr204Ser)
NM_004369.4(COL6A3):c.6114dup (p.Gln2039fs) rs2106344225
NM_004369.4(COL6A3):c.6119G>A (p.Arg2040Lys)
NM_004369.4(COL6A3):c.6119G>T (p.Arg2040Met)
NM_004369.4(COL6A3):c.611C>A (p.Thr204Asn) rs1574755113
NM_004369.4(COL6A3):c.6120G>T (p.Arg2040Ser) rs767129751
NM_004369.4(COL6A3):c.6130G>A (p.Gly2044Arg) rs1559229322
NM_004369.4(COL6A3):c.6136A>G (p.Ile2046Val)
NM_004369.4(COL6A3):c.6147C>T (p.Ile2049=)
NM_004369.4(COL6A3):c.6149G>A (p.Gly2050Glu)
NM_004369.4(COL6A3):c.6152C>T (p.Pro2051Leu)
NM_004369.4(COL6A3):c.6156+1G>A rs1553554298
NM_004369.4(COL6A3):c.6156+1G>T rs1553554298
NM_004369.4(COL6A3):c.6156+1_6156+2delinsTC
NM_004369.4(COL6A3):c.6156G>C (p.Lys2052Asn) rs398124125
NM_004369.4(COL6A3):c.6156G>T (p.Lys2052Asn) rs398124125
NM_004369.4(COL6A3):c.6157-16G>C
NM_004369.4(COL6A3):c.6157-1G>A
NM_004369.4(COL6A3):c.6157G>C (p.Gly2053Arg)
NM_004369.4(COL6A3):c.6158G>A (p.Gly2053Asp)
NM_004369.4(COL6A3):c.6158G>T (p.Gly2053Val) rs886041329
NM_004369.4(COL6A3):c.6167G>A (p.Gly2056Glu) rs1064795558
NM_004369.4(COL6A3):c.6168A>G (p.Gly2056=) rs1574978545
NM_004369.4(COL6A3):c.6185G>A (p.Gly2062Asp) rs2106343480
NM_004369.4(COL6A3):c.6188A>G (p.Tyr2063Cys) rs2106343479
NM_004369.4(COL6A3):c.6193G>A (p.Gly2065Ser) rs397515332
NM_004369.4(COL6A3):c.6193G>C (p.Gly2065Arg) rs397515332
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys) rs760446904
NM_004369.4(COL6A3):c.619C>A (p.His207Asn) rs749985039
NM_004369.4(COL6A3):c.619C>T (p.His207Tyr) rs749985039
NM_004369.4(COL6A3):c.6202G>T (p.Gly2068Cys)
NM_004369.4(COL6A3):c.6203G>A (p.Gly2068Asp) rs963783516
NM_004369.4(COL6A3):c.6210+13T>C
NM_004369.4(COL6A3):c.6210+15T>C rs2106343420
NM_004369.4(COL6A3):c.6210+1G>A rs398124126
NM_004369.4(COL6A3):c.6210+4dup
NM_004369.4(COL6A3):c.6210+5G>A rs886044593
NM_004369.4(COL6A3):c.6210+9_6210+19del
NM_004369.4(COL6A3):c.6211-11T>A
NM_004369.4(COL6A3):c.6211-17T>G
NM_004369.4(COL6A3):c.6211-4A>G rs398124127
NM_004369.4(COL6A3):c.6211G>T (p.Gly2071Cys) rs2106342311
NM_004369.4(COL6A3):c.6212G>A (p.Gly2071Asp) rs886043737
NM_004369.4(COL6A3):c.6212_6309+28del rs1553553313
NM_004369.4(COL6A3):c.6213T>C (p.Gly2071=)
NM_004369.4(COL6A3):c.6215_6225del (p.Glu2072fs) rs1574976615
NM_004369.4(COL6A3):c.6217C>T (p.Arg2073Cys) rs1306849935
NM_004369.4(COL6A3):c.6220G>A (p.Gly2074Ser) rs886044252
NM_004369.4(COL6A3):c.6221G>A (p.Gly2074Asp)
NM_004369.4(COL6A3):c.6230G>A (p.Gly2077Asp) rs1553553646
NM_004369.4(COL6A3):c.6230G>T (p.Gly2077Val) rs1553553646
NM_004369.4(COL6A3):c.6232G>A (p.Val2078Met)
NM_004369.4(COL6A3):c.6232G>C (p.Val2078Leu) rs2106342286
NM_004369.4(COL6A3):c.6235A>T (p.Asn2079Tyr) rs2106342283
NM_004369.4(COL6A3):c.6236A>G (p.Asn2079Ser)
NM_004369.4(COL6A3):c.6238G>C (p.Gly2080Arg) rs1553553625
NM_004369.4(COL6A3):c.6238G>T (p.Gly2080Cys)
NM_004369.4(COL6A3):c.6239G>A (p.Gly2080Asp) rs794727188
NM_004369.4(COL6A3):c.6239G>T (p.Gly2080Val) rs794727188
NM_004369.4(COL6A3):c.6245_6247del (p.Gln2082_Gly2083delinsArg)
NM_004369.4(COL6A3):c.6248G>A (p.Gly2083Asp)
NM_004369.4(COL6A3):c.6260G>A (p.Cys2087Tyr)
NM_004369.4(COL6A3):c.626T>C (p.Ile209Thr)
NM_004369.4(COL6A3):c.6280A>C (p.Lys2094Gln) rs2106342223
NM_004369.4(COL6A3):c.6282+1G>A rs398124128
NM_004369.4(COL6A3):c.6282+20G>A
NM_004369.4(COL6A3):c.6282+8G>A
NM_004369.4(COL6A3):c.6283-14G>A
NM_004369.4(COL6A3):c.6283-15C>A
NM_004369.4(COL6A3):c.6283-1G>A rs2106341460
NM_004369.4(COL6A3):c.6283-28A>G
NM_004369.4(COL6A3):c.6283-2A>C rs797044988
NM_004369.4(COL6A3):c.6283-2A>G rs797044988
NM_004369.4(COL6A3):c.6283-326_6296del rs2106341434
NM_004369.4(COL6A3):c.6287C>T (p.Ser2096Phe) rs765213888
NM_004369.4(COL6A3):c.6290G>A (p.Arg2097Gln) rs79375816
NM_004369.4(COL6A3):c.6293G>T (p.Gly2098Val) rs794727206
NM_004369.4(COL6A3):c.6308A>G (p.Lys2103Arg) rs1574975203
NM_004369.4(COL6A3):c.6309+10C>G rs2077385627
NM_004369.4(COL6A3):c.6309+1G>A rs886043919
NM_004369.4(COL6A3):c.6309+1G>C rs886043919
NM_004369.4(COL6A3):c.6309+1G>T rs886043919
NM_004369.4(COL6A3):c.6309+3A>G rs1553553327
NM_004369.4(COL6A3):c.6309+3A>T rs1553553327
NM_004369.4(COL6A3):c.6309+8A>G rs2077385691
NM_004369.4(COL6A3):c.6309G>A (p.Lys2103=) rs1574975196
NM_004369.4(COL6A3):c.6309G>C (p.Lys2103Asn) rs1574975196
NM_004369.4(COL6A3):c.6309_6309+1del rs2077385886
NM_004369.4(COL6A3):c.6310-17G>A
NM_004369.4(COL6A3):c.6310-28_6325del rs1553553267
NM_004369.4(COL6A3):c.6310-2A>G rs1559225993
NM_004369.4(COL6A3):c.6317T>G (p.Val2106Gly)
NM_004369.4(COL6A3):c.6318A>G (p.Val2106=) rs1574974939
NM_004369.4(COL6A3):c.6320_6322del (p.Gly2107del) rs1559225974
NM_004369.4(COL6A3):c.6354+12T>A
NM_004369.4(COL6A3):c.6354+1G>A rs886042883
NM_004369.4(COL6A3):c.6354+1G>T rs886042883
NM_004369.4(COL6A3):c.6354+5G>A
NM_004369.4(COL6A3):c.6355-10T>C
NM_004369.4(COL6A3):c.6355-2dup rs2077379376
NM_004369.4(COL6A3):c.6356G>A (p.Gly2119Glu) rs1574974640
NM_004369.4(COL6A3):c.6371C>G (p.Pro2124Arg)
NM_004369.4(COL6A3):c.6391G>A (p.Gly2131Arg)
NM_004369.4(COL6A3):c.6408+17G>A
NM_004369.4(COL6A3):c.6409-13G>A
NM_004369.4(COL6A3):c.6409-19A>G
NM_004369.4(COL6A3):c.6409-1G>C
NM_004369.4(COL6A3):c.6409-8T>C rs2106340546
NM_004369.4(COL6A3):c.6416A>T (p.Lys2139Ile)
NM_004369.4(COL6A3):c.6424C>G (p.Arg2142Gly) rs530866854
NM_004369.4(COL6A3):c.6424C>T (p.Arg2142Ter)
NM_004369.4(COL6A3):c.6427G>A (p.Gly2143Arg)
NM_004369.4(COL6A3):c.6434_6469dup (p.Asp2156_Pro2157insGlnGlyGluArgGlyAspValGlyIleArgGlyAsp) rs2106340479
NM_004369.4(COL6A3):c.6436G>A (p.Gly2146Arg) rs2106340509
NM_004369.4(COL6A3):c.6441A>G (p.Glu2147=)
NM_004369.4(COL6A3):c.6443G>A (p.Arg2148Lys) rs1574973805
NM_004369.4(COL6A3):c.6448G>A (p.Asp2150Asn) rs2077367323
NM_004369.4(COL6A3):c.6450T>C (p.Asp2150=)
NM_004369.4(COL6A3):c.6458T>C (p.Ile2153Thr)
NM_004369.4(COL6A3):c.6460C>T (p.Arg2154Ter)
NM_004369.4(COL6A3):c.6461G>C (p.Arg2154Pro) rs145561490
NM_004369.4(COL6A3):c.6466G>C (p.Asp2156His) rs1483242059
NM_004369.4(COL6A3):c.6471+17T>C
NM_004369.4(COL6A3):c.6472-15C>T
NM_004369.4(COL6A3):c.6472-7C>G
NM_004369.4(COL6A3):c.647G>C (p.Cys216Ser)
NM_004369.4(COL6A3):c.6489C>G (p.Asp2163Glu) rs758376967
NM_004369.4(COL6A3):c.649G>T (p.Val217Leu) rs745761792
NM_004369.4(COL6A3):c.6514G>C (p.Glu2172Gln)
NM_004369.4(COL6A3):c.6529G>A (p.Gly2177Ser)
NM_004369.4(COL6A3):c.6531C>T (p.Gly2177=)
NM_004369.4(COL6A3):c.6533C>G (p.Pro2178Arg) rs762287373
NM_004369.4(COL6A3):c.6533C>T (p.Pro2178Leu)
NM_004369.4(COL6A3):c.6535A>C (p.Met2179Leu)
NM_004369.4(COL6A3):c.6537+15A>G
NM_004369.4(COL6A3):c.6538-12T>C
NM_004369.4(COL6A3):c.6538-13T>C rs754557027
NM_004369.4(COL6A3):c.6538-20G>C
NM_004369.4(COL6A3):c.6538-5A>C rs1574971750
NM_004369.4(COL6A3):c.6559G>C (p.Val2187Leu) rs2106339211
NM_004369.4(COL6A3):c.6585G>A (p.Gly2195=) rs1172324866
NM_004369.4(COL6A3):c.6588G>A (p.Lys2196=)
NM_004369.4(COL6A3):c.658T>A (p.Ser220Thr)
NM_004369.4(COL6A3):c.6591+15G>T
NM_004369.4(COL6A3):c.6591+5G>A rs1574971639
NM_004369.4(COL6A3):c.6591+7G>A
NM_004369.4(COL6A3):c.6592-11T>C
NM_004369.4(COL6A3):c.6592-19_6592-10del rs2077285974
NM_004369.4(COL6A3):c.6592-8T>C rs994267675
NM_004369.4(COL6A3):c.6595G>A (p.Gly2199Ser) rs761353795
NM_004369.4(COL6A3):c.6596G>A (p.Gly2199Asp) rs1319341064
NM_004369.4(COL6A3):c.6597C>T (p.Gly2199=)
NM_004369.4(COL6A3):c.6605G>A (p.Arg2202Gln)
NM_004369.4(COL6A3):c.660C>T (p.Ser220=)
NM_004369.4(COL6A3):c.6613C>A (p.Pro2205Thr) rs748768672
NM_004369.4(COL6A3):c.6618dup (p.Gly2207fs)
NM_004369.4(COL6A3):c.6619G>A (p.Gly2207Arg)
NM_004369.4(COL6A3):c.661G>A (p.Val221Met) rs765527121
NM_004369.4(COL6A3):c.661G>T (p.Val221Leu)
NM_004369.4(COL6A3):c.6622G>A (p.Ala2208Thr) rs398124129
NM_004369.4(COL6A3):c.6622G>T (p.Ala2208Ser) rs398124129
NM_004369.4(COL6A3):c.6627+15G>A
NM_004369.4(COL6A3):c.6627+19C>A
NM_004369.4(COL6A3):c.6627+3G>A
NM_004369.4(COL6A3):c.6627+9C>T
NM_004369.4(COL6A3):c.6639C>T (p.Gly2213=) rs765837100
NM_004369.4(COL6A3):c.6654G>T (p.Pro2218=) rs147537071
NM_004369.4(COL6A3):c.6662A>T (p.Glu2221Val) rs2106334478
NM_004369.4(COL6A3):c.6666A>G (p.Gly2222=)
NM_004369.4(COL6A3):c.6675G>T (p.Gly2225=) rs538533719
NM_004369.4(COL6A3):c.6690+11C>T
NM_004369.4(COL6A3):c.6690+12C>T
NM_004369.4(COL6A3):c.6690+13G>A
NM_004369.4(COL6A3):c.6691-10C>T
NM_004369.4(COL6A3):c.6691-16T>G rs1211086568
NM_004369.4(COL6A3):c.6697GCTGGTCCT[3] (p.Pro2238_Pro2239insAlaGlyPro)
NM_004369.4(COL6A3):c.669A>C (p.Pro223=)
NM_004369.4(COL6A3):c.669A>G (p.Pro223=) rs1246288754
NM_004369.4(COL6A3):c.6715C>G (p.Pro2239Ala) rs1574963550
NM_004369.4(COL6A3):c.6717A>G (p.Pro2239=)
NM_004369.4(COL6A3):c.6724A>G (p.Ile2242Val)
NM_004369.4(COL6A3):c.6730G>C (p.Glu2244Gln) rs753307921
NM_004369.4(COL6A3):c.6739A>G (p.Ile2247Val) rs1473692842
NM_004369.4(COL6A3):c.6752G>A (p.Arg2251Gln)
NM_004369.4(COL6A3):c.6753+15A>G
NM_004369.4(COL6A3):c.6754-12C>T rs2077199421
NM_004369.4(COL6A3):c.6754-15C>T
NM_004369.4(COL6A3):c.6754-18C>G
NM_004369.4(COL6A3):c.6754-18C>T
NM_004369.4(COL6A3):c.6754-20T>C
NM_004369.4(COL6A3):c.6760G>A (p.Gly2254Arg)
NM_004369.4(COL6A3):c.6775G>A (p.Ala2259Thr) rs2077198497
NM_004369.4(COL6A3):c.6776C>G (p.Ala2259Gly)
NM_004369.4(COL6A3):c.6776C>T (p.Ala2259Val)
NM_004369.4(COL6A3):c.6787C>T (p.Arg2263Ter) rs748966916
NM_004369.4(COL6A3):c.6788G>A (p.Arg2263Gln)
NM_004369.4(COL6A3):c.6790G>A (p.Gly2264Ser)
NM_004369.4(COL6A3):c.6798C>G (p.Thr2266=) rs116541926
NM_004369.4(COL6A3):c.6802C>T (p.Pro2268Ser)
NM_004369.4(COL6A3):c.6807G>C (p.Leu2269=)
NM_004369.4(COL6A3):c.6810A>C (p.Gly2270=)
NM_004369.4(COL6A3):c.6816+8T>G
NM_004369.4(COL6A3):c.6816G>C (p.Lys2272Asn) rs2077197570
NM_004369.4(COL6A3):c.6817-5T>C rs794727464
NM_004369.4(COL6A3):c.6817-6G>A rs886042773
NM_004369.4(COL6A3):c.6817-9C>G
NM_004369.4(COL6A3):c.6826G>A (p.Gly2276Arg) rs761156771
NM_004369.4(COL6A3):c.682G>T (p.Asp228Tyr)
NM_004369.4(COL6A3):c.6832C>A (p.Pro2278Thr) rs1574958818
NM_004369.4(COL6A3):c.6848G>T (p.Gly2283Val) rs1186288111
NM_004369.4(COL6A3):c.684C>T (p.Asp228=) rs771393722
NM_004369.4(COL6A3):c.6855G>A (p.Gly2285=) rs3790993
NM_004369.4(COL6A3):c.6869G>A (p.Arg2290His) rs398124131
NM_004369.4(COL6A3):c.6878C>A (p.Thr2293Lys) rs759657526
NM_004369.4(COL6A3):c.6879+13C>T rs754120322
NM_004369.4(COL6A3):c.6879+14G>T
NM_004369.4(COL6A3):c.6879+16G>T
NM_004369.4(COL6A3):c.6879+18T>C
NM_004369.4(COL6A3):c.6879G>A (p.Thr2293=) rs886044656
NM_004369.4(COL6A3):c.687G>A (p.Thr229=)
NM_004369.4(COL6A3):c.6880-20C>A
NM_004369.4(COL6A3):c.6880-6T>C rs1023123323
NM_004369.4(COL6A3):c.6880-7C>A
NM_004369.4(COL6A3):c.6880-8A>G rs377004585
NM_004369.4(COL6A3):c.6885T>C (p.Asp2295=)
NM_004369.4(COL6A3):c.6889G>A (p.Gly2297Arg) rs1224613890
NM_004369.4(COL6A3):c.6901G>A (p.Val2301Ile)
NM_004369.4(COL6A3):c.6901G>T (p.Val2301Phe) rs1559212695
NM_004369.4(COL6A3):c.6903T>C (p.Val2301=)
NM_004369.4(COL6A3):c.6908G>C (p.Ser2303Thr) rs2106329002
NM_004369.4(COL6A3):c.6914G>A (p.Gly2305Glu)
NM_004369.4(COL6A3):c.6915A>G (p.Gly2305=)
NM_004369.4(COL6A3):c.6916C>A (p.Arg2306Ser) rs370862741
NM_004369.4(COL6A3):c.6916C>T (p.Arg2306Cys)
NM_004369.4(COL6A3):c.6917G>A (p.Arg2306His) rs1177122610
NM_004369.4(COL6A3):c.692C>A (p.Thr231Asn)
NM_004369.4(COL6A3):c.6930+5G>A rs749037028
NM_004369.4(COL6A3):c.6930+6dup
NM_004369.4(COL6A3):c.6930A>T (p.Lys2310Asn)
NM_004369.4(COL6A3):c.6931-10dup rs2106328779
NM_004369.4(COL6A3):c.6931-19A>G
NM_004369.4(COL6A3):c.6931-19A>T rs771629624
NM_004369.4(COL6A3):c.6946C>T (p.Pro2316Ser) rs1243164167
NM_004369.4(COL6A3):c.6956C>A (p.Pro2319Gln)
NM_004369.4(COL6A3):c.6956C>T (p.Pro2319Leu) rs751617505
NM_004369.4(COL6A3):c.6962C>A (p.Pro2321Gln) rs1207239805
NM_004369.4(COL6A3):c.6966+11C>T
NM_004369.4(COL6A3):c.6966+18G>A
NM_004369.4(COL6A3):c.6966+9T>A
NM_004369.4(COL6A3):c.6967-10T>C rs777986767
NM_004369.4(COL6A3):c.6967-18T>A
NM_004369.4(COL6A3):c.6967-2A>G
NM_004369.4(COL6A3):c.6967G>A (p.Gly2323Ser)
NM_004369.4(COL6A3):c.6972C>A (p.Asn2324Lys) rs113961575
NM_004369.4(COL6A3):c.6973C>A (p.Pro2325Thr) rs886044392
NM_004369.4(COL6A3):c.6973C>G (p.Pro2325Ala) rs886044392
NM_004369.4(COL6A3):c.6982C>A (p.Pro2328Thr) rs371637449
NM_004369.4(COL6A3):c.7006C>T (p.Pro2336Ser) rs2077126598
NM_004369.4(COL6A3):c.7007C>A (p.Pro2336His)
NM_004369.4(COL6A3):c.7016T>C (p.Ile2339Thr)
NM_004369.4(COL6A3):c.7017C>A (p.Ile2339=)
NM_004369.4(COL6A3):c.7022G>A (p.Gly2341Asp)
NM_004369.4(COL6A3):c.7029+11G>A
NM_004369.4(COL6A3):c.7029+13_7029+44del
NM_004369.4(COL6A3):c.7029+19T>C
NM_004369.4(COL6A3):c.7030-20G>A
NM_004369.4(COL6A3):c.7030-4C>G rs886042395
NM_004369.4(COL6A3):c.7039G>A (p.Gly2347Arg) rs2106326911
NM_004369.4(COL6A3):c.7040G>A (p.Gly2347Glu)
NM_004369.4(COL6A3):c.7047A>C (p.Pro2349=) rs1574951790
NM_004369.4(COL6A3):c.7055T>G (p.Val2352Gly) rs1482724586
NM_004369.4(COL6A3):c.705C>A (p.Ile235=)
NM_004369.4(COL6A3):c.705C>T (p.Ile235=) rs993297723
NM_004369.4(COL6A3):c.7069G>A (p.Asp2357Asn)
NM_004369.4(COL6A3):c.7081C>T (p.Pro2361Ser) rs934983963
NM_004369.4(COL6A3):c.7087C>G (p.Pro2363Ala)
NM_004369.4(COL6A3):c.709+11C>G
NM_004369.4(COL6A3):c.709+12G>A
NM_004369.4(COL6A3):c.709+13C>T
NM_004369.4(COL6A3):c.709+16C>T
NM_004369.4(COL6A3):c.709+18A>C
NM_004369.4(COL6A3):c.709+18A>G
NM_004369.4(COL6A3):c.709+9A>C
NM_004369.4(COL6A3):c.7092+16G>C
NM_004369.4(COL6A3):c.7092+5G>A
NM_004369.4(COL6A3):c.7093-15T>C
NM_004369.4(COL6A3):c.7093-17G>A
NM_004369.4(COL6A3):c.7093-18C>T
NM_004369.4(COL6A3):c.7093-5dup rs751423264
NM_004369.4(COL6A3):c.7093-9G>T rs2106325624
NM_004369.4(COL6A3):c.709G>A (p.Ala237Thr) rs1553564820
NM_004369.4(COL6A3):c.710-20dup rs759721812
NM_004369.4(COL6A3):c.710-6_710-5dup
NM_004369.4(COL6A3):c.7100A>G (p.Lys2367Arg)
NM_004369.4(COL6A3):c.7101G>A (p.Lys2367=) rs775666497
NM_004369.4(COL6A3):c.7107C>T (p.Asn2369=) rs1410340783
NM_004369.4(COL6A3):c.7112G>A (p.Gly2371Asp)
NM_004369.4(COL6A3):c.7112del (p.Gly2371fs) rs1323862623
NM_004369.4(COL6A3):c.7123G>C (p.Asp2375His)
NM_004369.4(COL6A3):c.7125+11T>C
NM_004369.4(COL6A3):c.7125+12G>A
NM_004369.4(COL6A3):c.7125+15T>C
NM_004369.4(COL6A3):c.7125+19G>C
NM_004369.4(COL6A3):c.7126-12T>C
NM_004369.4(COL6A3):c.7131T>C (p.Cys2377=)
NM_004369.4(COL6A3):c.7133C>G (p.Ala2378Gly)
NM_004369.4(COL6A3):c.7162+11G>A rs540897134
NM_004369.4(COL6A3):c.7162+1G>A
NM_004369.4(COL6A3):c.7162+2dup
NM_004369.4(COL6A3):c.7162C>T (p.Pro2388Ser)
NM_004369.4(COL6A3):c.7163-5del
NM_004369.4(COL6A3):c.716A>G (p.Asp239Gly) rs2078202028
NM_004369.4(COL6A3):c.7174+1del rs2106325341
NM_004369.4(COL6A3):c.7174+5G>A rs777424537
NM_004369.4(COL6A3):c.7174+5G>T
NM_004369.4(COL6A3):c.7175-3C>T
NM_004369.4(COL6A3):c.7175-6C>G rs199723531
NM_004369.4(COL6A3):c.7175-6C>T
NM_004369.4(COL6A3):c.7178C>T (p.Pro2393Leu)
NM_004369.4(COL6A3):c.717C>A (p.Asp239Glu) rs2078201961
NM_004369.4(COL6A3):c.7185G>A (p.Glu2395=)
NM_004369.4(COL6A3):c.7191C>T (p.Pro2397=)
NM_004369.4(COL6A3):c.7208T>C (p.Leu2403Pro) rs2077065222
NM_004369.4(COL6A3):c.7212C>T (p.Ala2404=) rs1162382032
NM_004369.4(COL6A3):c.7217C>T (p.Ala2406Val) rs2077064946
NM_004369.4(COL6A3):c.7231G>A (p.Glu2411Lys)
NM_004369.4(COL6A3):c.724G>A (p.Asp242Asn)
NM_004369.4(COL6A3):c.7254C>A (p.Phe2418Leu) rs768794876
NM_004369.4(COL6A3):c.7256G>C (p.Gly2419Ala) rs1339553173
NM_004369.4(COL6A3):c.7264C>T (p.Arg2422Ter) rs878854379
NM_004369.4(COL6A3):c.7267G>C (p.Asp2423His)
NM_004369.4(COL6A3):c.7289A>G (p.Asn2430Ser)
NM_004369.4(COL6A3):c.7298C>T (p.Thr2433Ile)
NM_004369.4(COL6A3):c.7300A>T (p.Ile2434Phe)
NM_004369.4(COL6A3):c.7310G>A (p.Ser2437Asn)
NM_004369.4(COL6A3):c.7314C>G (p.Asn2438Lys)
NM_004369.4(COL6A3):c.7321C>T (p.Arg2441Trp)
NM_004369.4(COL6A3):c.7324G>T (p.Gly2442Trp)
NM_004369.4(COL6A3):c.7326G>A (p.Gly2442=) rs2106325082
NM_004369.4(COL6A3):c.7327G>C (p.Ala2443Pro)
NM_004369.4(COL6A3):c.7328C>T (p.Ala2443Val) rs555176397
NM_004369.4(COL6A3):c.7330C>T (p.Arg2444Trp) rs771424958
NM_004369.4(COL6A3):c.7331G>C (p.Arg2444Pro) rs895701604
NM_004369.4(COL6A3):c.7334T>C (p.Val2445Ala)
NM_004369.4(COL6A3):c.7339G>A (p.Val2447Met) rs1400293403
NM_004369.4(COL6A3):c.733T>A (p.Phe245Ile) rs2106379268
NM_004369.4(COL6A3):c.7345A>G (p.Thr2449Ala) rs2077061420
NM_004369.4(COL6A3):c.7356C>G (p.Asn2452Lys) rs569662223
NM_004369.4(COL6A3):c.7357G>A (p.Glu2453Lys) rs886044364
NM_004369.4(COL6A3):c.7359G>C (p.Glu2453Asp) rs114199044
NM_004369.4(COL6A3):c.7363A>G (p.Thr2455Ala) rs757349865
NM_004369.4(COL6A3):c.7382del (p.Ala2461fs) rs2106324972
NM_004369.4(COL6A3):c.7386C>G (p.Asp2462Glu) rs2077060526
NM_004369.4(COL6A3):c.7405C>T (p.Leu2469Phe)
NM_004369.4(COL6A3):c.7407C>T (p.Leu2469=) rs2106324946
NM_004369.4(COL6A3):c.7440G>A (p.Leu2480=)
NM_004369.4(COL6A3):c.7446C>T (p.Ser2482=)
NM_004369.4(COL6A3):c.7451A>C (p.Gln2484Pro) rs1574948119
NM_004369.4(COL6A3):c.7462G>A (p.Glu2488Lys) rs2106324901
NM_004369.4(COL6A3):c.7463A>G (p.Glu2488Gly)
NM_004369.4(COL6A3):c.7466C>T (p.Thr2489Ile) rs2106324896
NM_004369.4(COL6A3):c.746G>A (p.Gly249Glu)
NM_004369.4(COL6A3):c.7471A>G (p.Met2491Val)
NM_004369.4(COL6A3):c.74C>A (p.Ala25Asp) rs398124134
NM_004369.4(COL6A3):c.7504G>A (p.Val2502Met) rs1446344528
NM_004369.4(COL6A3):c.7515A>T (p.Gly2505=)
NM_004369.4(COL6A3):c.751A>G (p.Asn251Asp)
NM_004369.4(COL6A3):c.7524G>T (p.Met2508Ile)
NM_004369.4(COL6A3):c.752A>C (p.Asn251Thr)
NM_004369.4(COL6A3):c.7546A>G (p.Ser2516Gly) rs749651818
NM_004369.4(COL6A3):c.7560A>G (p.Thr2520=)
NM_004369.4(COL6A3):c.7573C>G (p.Gln2525Glu) rs2077056501
NM_004369.4(COL6A3):c.7581A>G (p.Arg2527=) rs765129895
NM_004369.4(COL6A3):c.7584G>A (p.Glu2528=)
NM_004369.4(COL6A3):c.7589T>C (p.Val2530Ala)
NM_004369.4(COL6A3):c.758C>A (p.Thr253Asn) rs201283466
NM_004369.4(COL6A3):c.7595A>G (p.Lys2532Arg)
NM_004369.4(COL6A3):c.7597C>A (p.Leu2533Ile)
NM_004369.4(COL6A3):c.759_764del (p.Gly254_Ser255del)
NM_004369.4(COL6A3):c.7603G>T (p.Asp2535Tyr) rs2106324714
NM_004369.4(COL6A3):c.7608G>T (p.Ala2536=) rs749750613
NM_004369.4(COL6A3):c.761del (p.Gly254fs) rs780921503
NM_004369.4(COL6A3):c.7645C>A (p.Arg2549=) rs151079701
NM_004369.4(COL6A3):c.7645C>T (p.Arg2549Trp) rs151079701
NM_004369.4(COL6A3):c.7648C>T (p.Gln2550Ter) rs2106324666
NM_004369.4(COL6A3):c.7650G>A (p.Gln2550=)
NM_004369.4(COL6A3):c.7666C>T (p.Gln2556Ter) rs2077054122
NM_004369.4(COL6A3):c.7668+5G>C
NM_004369.4(COL6A3):c.7668G>T (p.Gln2556His) rs1553547891
NM_004369.4(COL6A3):c.7669-15T>C
NM_004369.4(COL6A3):c.7669-16C>T
NM_004369.4(COL6A3):c.7669-2del rs764193290
NM_004369.4(COL6A3):c.7669-3C>T rs763071900
NM_004369.4(COL6A3):c.7673A>G (p.Asn2558Ser)
NM_004369.4(COL6A3):c.7682C>T (p.Ala2561Val)
NM_004369.4(COL6A3):c.7687G>A (p.Gly2563Arg) rs780964113
NM_004369.4(COL6A3):c.7689G>A (p.Gly2563=) rs1033018695
NM_004369.4(COL6A3):c.7699G>A (p.Val2567Ile) rs1559203170
NM_004369.4(COL6A3):c.7703T>A (p.Leu2568Gln) rs2077000191
NM_004369.4(COL6A3):c.771T>C (p.Asn257=)
NM_004369.4(COL6A3):c.7720del (p.Leu2574fs) rs1574942920
NM_004369.4(COL6A3):c.7765+15T>C rs777263519
NM_004369.4(COL6A3):c.7765+17A>G rs761150742
NM_004369.4(COL6A3):c.7766-13T>C rs2076980060
NM_004369.4(COL6A3):c.7766-14A>G
NM_004369.4(COL6A3):c.7766-20G>A
NM_004369.4(COL6A3):c.7766A>G (p.Asp2589Gly)
NM_004369.4(COL6A3):c.7767C>A (p.Asp2589Glu) rs1553546746
NM_004369.4(COL6A3):c.7768A>T (p.Ile2590Phe)
NM_004369.4(COL6A3):c.7770C>T (p.Ile2590=) rs1574940988
NM_004369.4(COL6A3):c.7780G>A (p.Asp2594Asn)
NM_004369.4(COL6A3):c.7795T>C (p.Phe2599Leu)
NM_004369.4(COL6A3):c.7796_7797del (p.Phe2599fs) rs886042623
NM_004369.4(COL6A3):c.77A>G (p.Gln26Arg) rs1381568881
NM_004369.4(COL6A3):c.7808G>A (p.Arg2603Lys)
NM_004369.4(COL6A3):c.7808G>C (p.Arg2603Thr)
NM_004369.4(COL6A3):c.7810C>T (p.Pro2604Ser)
NM_004369.4(COL6A3):c.7819A>G (p.Arg2607Gly) rs984056484
NM_004369.4(COL6A3):c.7825A>C (p.Arg2609=)
NM_004369.4(COL6A3):c.7832C>A (p.Ala2611Glu) rs114806654
NM_004369.4(COL6A3):c.7833G>T (p.Ala2611=) rs535306425
NM_004369.4(COL6A3):c.7843G>A (p.Asp2615Asn) rs145884404
NM_004369.4(COL6A3):c.7843G>T (p.Asp2615Tyr)
NM_004369.4(COL6A3):c.7848G>A (p.Val2616=)
NM_004369.4(COL6A3):c.7850A>G (p.Asp2617Gly)
NM_004369.4(COL6A3):c.7851C>G (p.Asp2617Glu)
NM_004369.4(COL6A3):c.7851C>T (p.Asp2617=) rs1235022762
NM_004369.4(COL6A3):c.7854C>T (p.Ile2618=)
NM_004369.4(COL6A3):c.7882G>A (p.Glu2628Lys)
NM_004369.4(COL6A3):c.7896G>C (p.Leu2632=) rs1378457056
NM_004369.4(COL6A3):c.7898T>G (p.Phe2633Cys)
NM_004369.4(COL6A3):c.7901A>G (p.Gln2634Arg)
NM_004369.4(COL6A3):c.7911G>A (p.Glu2637=)
NM_004369.4(COL6A3):c.7913T>C (p.Met2638Thr) rs2106320038
NM_004369.4(COL6A3):c.7917G>A (p.Lys2639=)
NM_004369.4(COL6A3):c.7926A>T (p.Ile2642=) rs2076975766
NM_004369.4(COL6A3):c.7929G>T (p.Ala2643=)
NM_004369.4(COL6A3):c.792C>T (p.Phe264=) rs2106379168
NM_004369.4(COL6A3):c.792_795del (p.Phe264fs)
NM_004369.4(COL6A3):c.7936G>C (p.Val2646Leu) rs1419214464
NM_004369.4(COL6A3):c.7948G>A (p.Asp2650Asn) rs890268146
NM_004369.4(COL6A3):c.7960G>A (p.Asp2654Asn)
NM_004369.4(COL6A3):c.7969G>C (p.Ala2657Pro) rs1192265506
NM_004369.4(COL6A3):c.7975C>T (p.Gln2659Ter) rs2076974450
NM_004369.4(COL6A3):c.7979A>G (p.His2660Arg)
NM_004369.4(COL6A3):c.7983C>T (p.Phe2661=) rs375222168
NM_004369.4(COL6A3):c.7993G>A (p.Ala2665Thr) rs1559201034
NM_004369.4(COL6A3):c.7995A>T (p.Ala2665=) rs80193928
NM_004369.4(COL6A3):c.7996G>A (p.Val2666Ile)
NM_004369.4(COL6A3):c.8014T>G (p.Ser2672Ala)
NM_004369.4(COL6A3):c.8023G>A (p.Val2675Met)
NM_004369.4(COL6A3):c.8031T>C (p.Asn2677=)
NM_004369.4(COL6A3):c.8045C>G (p.Pro2682Arg) rs761740861
NM_004369.4(COL6A3):c.8045C>T (p.Pro2682Leu) rs761740861
NM_004369.4(COL6A3):c.8050A>C (p.Lys2684Gln) rs886055803
NM_004369.4(COL6A3):c.8055G>T (p.Val2685=)
NM_004369.4(COL6A3):c.8063C>T (p.Ser2688Phe)
NM_004369.4(COL6A3):c.8074del (p.Tyr2692fs) rs2106319784
NM_004369.4(COL6A3):c.8075A>G (p.Tyr2692Cys)
NM_004369.4(COL6A3):c.8082C>A (p.Ser2694=)
NM_004369.4(COL6A3):c.8088G>A (p.Glu2696=)
NM_004369.4(COL6A3):c.8091G>A (p.Lys2697=) rs775318733
NM_004369.4(COL6A3):c.80A>G (p.Gln27Arg)
NM_004369.4(COL6A3):c.8112G>A (p.Arg2704=)
NM_004369.4(COL6A3):c.8114G>T (p.Gly2705Val) rs957705259
NM_004369.4(COL6A3):c.8127G>T (p.Leu2709Phe) rs1031349800
NM_004369.4(COL6A3):c.8148C>A (p.Gly2716=)
NM_004369.4(COL6A3):c.8150G>A (p.Ser2717Asn) rs763974888
NM_004369.4(COL6A3):c.8150G>C (p.Ser2717Thr) rs763974888
NM_004369.4(COL6A3):c.8156T>C (p.Ile2719Thr)
NM_004369.4(COL6A3):c.8163C>T (p.Tyr2721=)
NM_004369.4(COL6A3):c.816C>T (p.Leu272=)
NM_004369.4(COL6A3):c.8196C>G (p.Asn2732Lys)
NM_004369.4(COL6A3):c.819A>G (p.Pro273=) rs2106379131
NM_004369.4(COL6A3):c.81G>A (p.Gln27=)
NM_004369.4(COL6A3):c.8200C>T (p.Arg2734Trp) rs756868781
NM_004369.4(COL6A3):c.8208G>T (p.Leu2736=) rs2106319581
NM_004369.4(COL6A3):c.821T>C (p.Ile274Thr)
NM_004369.4(COL6A3):c.8221C>T (p.Leu2741=)
NM_004369.4(COL6A3):c.8224A>C (p.Met2742Leu)
NM_004369.4(COL6A3):c.8235C>A (p.Gly2745=)
NM_004369.4(COL6A3):c.8235C>T (p.Gly2745=) rs534728020
NM_004369.4(COL6A3):c.8257G>A (p.Glu2753Lys) rs144130137
NM_004369.4(COL6A3):c.8257G>C (p.Glu2753Gln)
NM_004369.4(COL6A3):c.8264C>T (p.Ala2755Val) rs770586429
NM_004369.4(COL6A3):c.8267A>C (p.Gln2756Pro) rs2076967534
NM_004369.4(COL6A3):c.8281C>T (p.Gln2761Ter) rs2076967147
NM_004369.4(COL6A3):c.8308G>A (p.Val2770Met) rs886044644
NM_004369.4(COL6A3):c.8310G>C (p.Val2770=) rs766217603
NM_004369.4(COL6A3):c.8319C>T (p.Gly2773=) rs1453228535
NM_004369.4(COL6A3):c.8349A>G (p.Val2783=)
NM_004369.4(COL6A3):c.8351A>T (p.Tyr2784Phe) rs2106319405
NM_004369.4(COL6A3):c.8359G>T (p.Ala2787Ser) rs763395740
NM_004369.4(COL6A3):c.837C>A (p.Ile279=)
NM_004369.4(COL6A3):c.8386A>G (p.Lys2796Glu) rs2106319353
NM_004369.4(COL6A3):c.838C>G (p.Arg280Gly)
NM_004369.4(COL6A3):c.8394G>C (p.Val2798=) rs780134165
NM_004369.4(COL6A3):c.839G>A (p.Arg280Gln) rs370246962
NM_004369.4(COL6A3):c.8407G>A (p.Glu2803Lys)
NM_004369.4(COL6A3):c.8421G>A (p.Glu2807=) rs753264980
NM_004369.4(COL6A3):c.8430dup (p.Arg2811fs)
NM_004369.4(COL6A3):c.8440A>T (p.Arg2814Trp) rs1553546042
NM_004369.4(COL6A3):c.8449C>T (p.Pro2817Ser)
NM_004369.4(COL6A3):c.8450C>T (p.Pro2817Leu)
NM_004369.4(COL6A3):c.8460C>T (p.Val2820=)
NM_004369.4(COL6A3):c.8464+7C>T
NM_004369.4(COL6A3):c.8465-18T>C rs1318549888
NM_004369.4(COL6A3):c.8465-7T>A rs1574936670
NM_004369.4(COL6A3):c.8465-7del rs111494366
NM_004369.4(COL6A3):c.8465-7dup rs111494366
NM_004369.4(COL6A3):c.8465-9T>C
NM_004369.4(COL6A3):c.8479T>A (p.Tyr2827Asn)
NM_004369.4(COL6A3):c.847G>C (p.Val283Leu)
NM_004369.4(COL6A3):c.8481del (p.Leu2828fs) rs2106317762
NM_004369.4(COL6A3):c.8490A>G (p.Pro2830=)
NM_004369.4(COL6A3):c.8491G>C (p.Asp2831His) rs36104025
NM_004369.4(COL6A3):c.8491G>T (p.Asp2831Tyr)
NM_004369.4(COL6A3):c.8500A>C (p.Lys2834Gln)
NM_004369.4(COL6A3):c.8566G>A (p.Val2856Ile)
NM_004369.4(COL6A3):c.8567+20G>A
NM_004369.4(COL6A3):c.8568-10G>T
NM_004369.4(COL6A3):c.8568-12T>A
NM_004369.4(COL6A3):c.8571T>C (p.Asn2857=)
NM_004369.4(COL6A3):c.8576C>T (p.Pro2859Leu)
NM_004369.4(COL6A3):c.8588C>T (p.Thr2863Ile)
NM_004369.4(COL6A3):c.8592A>G (p.Ser2864=)
NM_004369.4(COL6A3):c.8598T>C (p.Pro2866=)
NM_004369.4(COL6A3):c.861C>T (p.Ser287=) rs756380512
NM_004369.4(COL6A3):c.8626C>G (p.Pro2876Ala)
NM_004369.4(COL6A3):c.862G>C (p.Asp288His)
NM_004369.4(COL6A3):c.8634T>A (p.Thr2878=) rs768887961
NM_004369.4(COL6A3):c.8634_8651del (p.2875KPVTTT[1]) rs780678900
NM_004369.4(COL6A3):c.8637_8654dup (p.2875KPVTTT[3]) rs1167608831
NM_004369.4(COL6A3):c.8640G>A (p.Thr2880=)
NM_004369.4(COL6A3):c.8640G>C (p.Thr2880=) rs746309230
NM_004369.4(COL6A3):c.8644C>T (p.Pro2882Ser) rs1553544899
NM_004369.4(COL6A3):c.865G>T (p.Glu289Ter) rs767654047
NM_004369.4(COL6A3):c.8667T>C (p.Pro2889=)
NM_004369.4(COL6A3):c.8670A>G (p.Val2890=) rs551264358
NM_004369.4(COL6A3):c.8670_8690del (p.2878TTTKPVT[2]) rs746284792
NM_004369.4(COL6A3):c.8670_8690dup (p.Thr2898_Ile2899insThrThrThrLysProValThr)
NM_004369.4(COL6A3):c.8676C>T (p.Thr2892=)
NM_004369.4(COL6A3):c.8698A>C (p.Ile2900Leu) rs1553544853
NM_004369.4(COL6A3):c.8709A>G (p.Pro2903=) rs770062985
NM_004369.4(COL6A3):c.8725G>T (p.Ala2909Ser)
NM_004369.4(COL6A3):c.8736G>A (p.Pro2912=)
NM_004369.4(COL6A3):c.8738C>A (p.Ala2913Asp)
NM_004369.4(COL6A3):c.8740C>T (p.Pro2914Ser)
NM_004369.4(COL6A3):c.8750C>A (p.Pro2917His) rs1559194476
NM_004369.4(COL6A3):c.8754G>A (p.Val2918=) rs1332418093
NM_004369.4(COL6A3):c.8758_8772dup (p.Ala2924_Thr2925insAlaLysProValAla)
NM_004369.4(COL6A3):c.8759C>A (p.Ala2920Asp) rs1455583519
NM_004369.4(COL6A3):c.8764C>T (p.Pro2922Ser)
NM_004369.4(COL6A3):c.8773A>G (p.Thr2925Ala)
NM_004369.4(COL6A3):c.8779_8780delinsTC (p.Met2927Ser) rs2106314453
NM_004369.4(COL6A3):c.877A>G (p.Met293Val)
NM_004369.4(COL6A3):c.8780_8781delinsCT (p.Met2927Thr) rs2106314441
NM_004369.4(COL6A3):c.8780_8781inv (p.Met2927Thr)
NM_004369.4(COL6A3):c.8784C>T (p.Ala2928=)
NM_004369.4(COL6A3):c.8789T>C (p.Val2930Ala) rs1700542767
NM_004369.4(COL6A3):c.878T>C (p.Met293Thr) rs1361910233
NM_004369.4(COL6A3):c.8798C>A (p.Pro2933Gln)
NM_004369.4(COL6A3):c.8799A>G (p.Pro2933=) rs139811166
NM_004369.4(COL6A3):c.87A>T (p.Gln29His) rs775946239
NM_004369.4(COL6A3):c.8801T>G (p.Val2934Gly) rs1440572476
NM_004369.4(COL6A3):c.8804C>A (p.Ala2935Glu) rs36020669
NM_004369.4(COL6A3):c.8828A>G (p.Lys2943Arg) rs1700539745
NM_004369.4(COL6A3):c.8847A>G (p.Pro2949=)
NM_004369.4(COL6A3):c.8860C>T (p.Pro2954Ser)
NM_004369.4(COL6A3):c.8861C>A (p.Pro2954His)
NM_004369.4(COL6A3):c.8862C>T (p.Pro2954=) rs2106314283
NM_004369.4(COL6A3):c.8863C>T (p.Pro2955Ser) rs1700538106
NM_004369.4(COL6A3):c.8865_8867del (p.Ala2960del) rs757584445
NM_004369.4(COL6A3):c.8866G>A (p.Ala2956Thr) rs773820329
NM_004369.4(COL6A3):c.8868TGC[3] (p.Ala2960del) rs35879189
NM_004369.4(COL6A3):c.8868TGC[5] (p.Ala2960dup) rs35879189
NM_004369.4(COL6A3):c.8870C>T (p.Ala2957Val) rs1287394484
NM_004369.4(COL6A3):c.8873C>A (p.Ala2958Asp)
NM_004369.4(COL6A3):c.8892G>A (p.Ala2964=) rs147324162
NM_004369.4(COL6A3):c.8892G>C (p.Ala2964=) rs147324162
NM_004369.4(COL6A3):c.8895C>T (p.Thr2965=) rs114008087
NM_004369.4(COL6A3):c.8914C>T (p.Pro2972Ser) rs1256198664
NM_004369.4(COL6A3):c.8920G>A (p.Ala2974Thr) rs727502837
NM_004369.4(COL6A3):c.8928_8929insGCAGCTGCCACCAAGCCAGCCAAA (p.Lys2976_Pro2977insAlaAlaAlaThrLysProAlaLys)
NM_004369.4(COL6A3):c.8931del (p.Ala2978fs) rs1553544667
NM_004369.4(COL6A3):c.8955T>C (p.Thr2985=)
NM_004369.4(COL6A3):c.8966-11C>A
NM_004369.4(COL6A3):c.8966-13A>G
NM_004369.4(COL6A3):c.8966-19G>A
NM_004369.4(COL6A3):c.8966-19G>T rs182520636
NM_004369.4(COL6A3):c.8966-3C>T
NM_004369.4(COL6A3):c.896A>G (p.Tyr299Cys)
NM_004369.4(COL6A3):c.8977C>G (p.Arg2993Gly)
NM_004369.4(COL6A3):c.8985C>G (p.Val2995=) rs2106312595
NM_004369.4(COL6A3):c.8987A>G (p.Gln2996Arg)
NM_004369.4(COL6A3):c.898T>A (p.Ser300Thr) rs1559270845
NM_004369.4(COL6A3):c.898T>G (p.Ser300Ala)
NM_004369.4(COL6A3):c.898_900del (p.Ser300del) rs554176183
NM_004369.4(COL6A3):c.8993T>C (p.Phe2998Ser) rs1187707448
NM_004369.4(COL6A3):c.8997G>A (p.Glu2999=) rs2106312577
NM_004369.4(COL6A3):c.9000A>G (p.Ile3000Met)
NM_004369.4(COL6A3):c.9013G>A (p.Ala3005Thr)
NM_004369.4(COL6A3):c.9014C>T (p.Ala3005Val)
NM_004369.4(COL6A3):c.9031A>G (p.Arg3011Gly) rs565996170
NM_004369.4(COL6A3):c.9045C>G (p.Pro3015=)
NM_004369.4(COL6A3):c.9046G>C (p.Gly3016Arg)
NM_004369.4(COL6A3):c.9047dup (p.Pro3017fs)
NM_004369.4(COL6A3):c.9049C>A (p.Pro3017Thr) rs767249760
NM_004369.4(COL6A3):c.904A>G (p.Lys302Glu)
NM_004369.4(COL6A3):c.9051T>A (p.Pro3017=) rs1574928802
NM_004369.4(COL6A3):c.9061_9063del (p.Asp3021del) rs756150789
NM_004369.4(COL6A3):c.9076T>C (p.Ser3026Pro) rs1700446197
NM_004369.4(COL6A3):c.9080C>T (p.Ala3027Val) rs1299012840
NM_004369.4(COL6A3):c.9083A>C (p.His3028Pro)
NM_004369.4(COL6A3):c.9083A>G (p.His3028Arg)
NM_004369.4(COL6A3):c.9087T>A (p.Asp3029Glu) rs1553544136
NM_004369.4(COL6A3):c.9093C>T (p.Ser3031=)
NM_004369.4(COL6A3):c.9096G>T (p.Leu3032=) rs147327623
NM_004369.4(COL6A3):c.909C>T (p.Ala303=)
NM_004369.4(COL6A3):c.91+15C>A rs117521066
NM_004369.4(COL6A3):c.91+4A>G
NM_004369.4(COL6A3):c.9127C>T (p.Arg3043Cys)
NM_004369.4(COL6A3):c.9133A>G (p.Ile3045Val)
NM_004369.4(COL6A3):c.9137G>T (p.Gly3046Val)
NM_004369.4(COL6A3):c.9138A>G (p.Gly3046=)
NM_004369.4(COL6A3):c.913G>A (p.Val305Ile) rs564041158
NM_004369.4(COL6A3):c.913G>T (p.Val305Phe)
NM_004369.4(COL6A3):c.9160_9163dup (p.His3055fs) rs2106312317
NM_004369.4(COL6A3):c.9175G>T (p.Val3059Phe)
NM_004369.4(COL6A3):c.9175del (p.Val3059fs)
NM_004369.4(COL6A3):c.9182A>C (p.Tyr3061Ser)
NM_004369.4(COL6A3):c.9188G>A (p.Arg3063Lys)
NM_004369.4(COL6A3):c.9192T>G (p.Ser3064=) rs1253951128
NM_004369.4(COL6A3):c.92-19C>A
NM_004369.4(COL6A3):c.92-19C>G
NM_004369.4(COL6A3):c.92-5dup rs1476890625
NM_004369.4(COL6A3):c.92-6_92-5del rs1476890625
NM_004369.4(COL6A3):c.9203C>T (p.Ala3068Val)
NM_004369.4(COL6A3):c.9210C>T (p.Tyr3070=) rs1363089686
NM_004369.4(COL6A3):c.9214G>A (p.Gly3072Arg)
NM_004369.4(COL6A3):c.9218G>A (p.Ser3073Asn)
NM_004369.4(COL6A3):c.9229+4_9229+7del
NM_004369.4(COL6A3):c.9230-19A>G
NM_004369.4(COL6A3):c.9230-1G>A
NM_004369.4(COL6A3):c.9230-20del
NM_004369.4(COL6A3):c.9230-4A>G rs1559190144
NM_004369.4(COL6A3):c.9231G>T (p.Lys3077Asn)
NM_004369.4(COL6A3):c.9241C>T (p.Pro3081Ser) rs1700374826
NM_004369.4(COL6A3):c.9245C>T (p.Pro3082Leu) rs182976977
NM_004369.4(COL6A3):c.9247C>T (p.Pro3083Ser)
NM_004369.4(COL6A3):c.9248C>T (p.Pro3083Leu)
NM_004369.4(COL6A3):c.9249T>A (p.Pro3083=) rs77368269
NM_004369.4(COL6A3):c.927G>A (p.Val309=)
NM_004369.4(COL6A3):c.9281C>T (p.Thr3094Ile) rs1700373011
NM_004369.4(COL6A3):c.9303A>G (p.Thr3101=) rs957608376
NM_004369.4(COL6A3):c.9308C>A (p.Pro3103Gln) rs1288932366
NM_004369.4(COL6A3):c.9310T>C (p.Leu3104=)
NM_004369.4(COL6A3):c.9326C>T (p.Thr3109Ile)
NM_004369.4(COL6A3):c.9328+3G>A
NM_004369.4(COL6A3):c.9328+8G>A
NM_004369.4(COL6A3):c.9329-14T>A
NM_004369.4(COL6A3):c.9329-18C>A
NM_004369.4(COL6A3):c.9329-4A>G
NM_004369.4(COL6A3):c.9329-7A>T
NM_004369.4(COL6A3):c.9329A>C (p.Asp3110Ala)
NM_004369.4(COL6A3):c.932C>T (p.Ala311Val) rs781284019
NM_004369.4(COL6A3):c.9334T>C (p.Cys3112Arg)
NM_004369.4(COL6A3):c.9358A>G (p.Thr3120Ala)
NM_004369.4(COL6A3):c.937G>A (p.Gly313Arg)
NM_004369.4(COL6A3):c.9384G>A (p.Trp3128Ter) rs1405374416
NM_004369.4(COL6A3):c.9391G>A (p.Asp3131Asn)
NM_004369.4(COL6A3):c.9401C>T (p.Thr3134Ile)
NM_004369.4(COL6A3):c.9407G>A (p.Ser3136Asn) rs759514583
NM_004369.4(COL6A3):c.9416G>A (p.Arg3139Lys) rs1699900051
NM_004369.4(COL6A3):c.9418T>G (p.Phe3140Val) rs886042448
NM_004369.4(COL6A3):c.9435T>C (p.Cys3145=) rs1446752971
NM_004369.4(COL6A3):c.9441A>G (p.Gly3147=)
NM_004369.4(COL6A3):c.9449A>G (p.Asn3150Ser)
NM_004369.4(COL6A3):c.9450C>A (p.Asn3150Lys)
NM_004369.4(COL6A3):c.9458G>T (p.Gly3153Val) rs1553541451
NM_004369.4(COL6A3):c.9465G>C (p.Gln3155His)
NM_004369.4(COL6A3):c.9472_9476dup (p.Glu3159fs)
NM_004369.4(COL6A3):c.9477A>C (p.Glu3159Asp)
NM_004369.4(COL6A3):c.9480G>A (p.Lys3160=)
NM_004369.4(COL6A3):c.9481del (p.Val3161fs)
NM_004369.4(COL6A3):c.9487G>A (p.Ala3163Thr) rs553486570
NM_004369.4(COL6A3):c.9487G>C (p.Ala3163Pro) rs553486570
NM_004369.4(COL6A3):c.9489T>C (p.Ala3163=) rs367728719
NM_004369.4(COL6A3):c.9493+14C>T
NM_004369.4(COL6A3):c.9493+16T>C
NM_004369.4(COL6A3):c.9494-12C>G rs957142857
NM_004369.4(COL6A3):c.9494-15TC[2]
NM_004369.4(COL6A3):c.9494-16C>G
NM_004369.4(COL6A3):c.9494-17C>A
NM_004369.4(COL6A3):c.9494-5C>T rs886043555
NM_004369.4(COL6A3):c.9494-6G>A
NM_004369.4(COL6A3):c.9494-6G>T rs367899223
NM_004369.4(COL6A3):c.9494-9G>A
NM_004369.4(COL6A3):c.9494T>G (p.Val3165Gly)
NM_004369.4(COL6A3):c.9504A>G (p.Lys3168=) rs1008454322
NM_004369.4(COL6A3):c.9523A>C (p.Met3175Leu)
NM_004369.4(COL6A3):c.9529A>C (p.Thr3177Pro) rs2106297671
NM_004369.4(COL6A3):c.964A>G (p.Ile322Val)
NM_004369.4(COL6A3):c.965T>A (p.Ile322Asn) rs2078191004
NM_004369.4(COL6A3):c.966C>A (p.Ile322=) rs369160080
NM_004369.4(COL6A3):c.979G>T (p.Asp327Tyr) rs2078190150
NM_004369.4(COL6A3):c.985G>A (p.Val329Met) rs542283928
NM_004369.4(COL6A3):c.985G>C (p.Val329Leu)
NM_004369.4(COL6A3):c.993G>C (p.Glu331Asp)
NM_004370.5(COL12A1):c.7356del rs1473576494
NM_004370.6(COL12A1):c.1023T>G (p.Ile341Met)
NM_004370.6(COL12A1):c.1024G>A (p.Ala342Thr) rs2149467566
NM_004370.6(COL12A1):c.1028T>C (p.Met343Thr)
NM_004370.6(COL12A1):c.1043A>T (p.Lys348Ile)
NM_004370.6(COL12A1):c.1045T>C (p.Tyr349His) rs1769481285
NM_004370.6(COL12A1):c.1047T>C (p.Tyr349=)
NM_004370.6(COL12A1):c.1048G>A (p.Val350Ile)
NM_004370.6(COL12A1):c.1053G>T (p.Lys351Asn) rs1562297952
NM_004370.6(COL12A1):c.1059T>C (p.Asn353=)
NM_004370.6(COL12A1):c.106A>G (p.Ile36Val)
NM_004370.6(COL12A1):c.1077T>A (p.Ser359Arg)
NM_004370.6(COL12A1):c.1081G>A (p.Val361Met) rs2149467444
NM_004370.6(COL12A1):c.108A>C (p.Ile36=)
NM_004370.6(COL12A1):c.1095A>G (p.Lys365=) rs2149467427
NM_004370.6(COL12A1):c.10A>C (p.Arg4=)
NM_004370.6(COL12A1):c.1101C>A (p.Ile367=)
NM_004370.6(COL12A1):c.1102C>T (p.Leu368Phe)
NM_004370.6(COL12A1):c.1106C>T (p.Thr369Ile) rs1253680957
NM_004370.6(COL12A1):c.1109C>A (p.Pro370Gln) rs2149467365
NM_004370.6(COL12A1):c.1109C>T (p.Pro370Leu)
NM_004370.6(COL12A1):c.1110A>G (p.Pro370=) rs575544133
NM_004370.6(COL12A1):c.1112T>G (p.Met371Arg)
NM_004370.6(COL12A1):c.1127G>A (p.Arg376Gln)
NM_004370.6(COL12A1):c.1131G>A (p.Gln377=)
NM_004370.6(COL12A1):c.1135G>A (p.Ala379Thr) rs779083996
NM_004370.6(COL12A1):c.1138C>G (p.Leu380Val)
NM_004370.6(COL12A1):c.1141A>G (p.Ser381Gly)
NM_004370.6(COL12A1):c.1143T>C (p.Ser381=) rs2149467274
NM_004370.6(COL12A1):c.1149G>A (p.Gly383=)
NM_004370.6(COL12A1):c.1151C>T (p.Pro384Leu)
NM_004370.6(COL12A1):c.1153del (p.Gln385fs)
NM_004370.6(COL12A1):c.1159A>G (p.Thr387Ala) rs1582198440
NM_004370.6(COL12A1):c.1161C>G (p.Thr387=) rs2149467222
NM_004370.6(COL12A1):c.1163C>A (p.Thr388Lys) rs201657256
NM_004370.6(COL12A1):c.1168A>C (p.Ser390Arg)
NM_004370.6(COL12A1):c.1170T>C (p.Ser390=)
NM_004370.6(COL12A1):c.1178A>T (p.Asp393Val) rs1032545730
NM_004370.6(COL12A1):c.1182C>T (p.Leu394=) rs763051678
NM_004370.6(COL12A1):c.1201C>T (p.Gln401Ter) rs2149467117
NM_004370.6(COL12A1):c.1204A>G (p.Ile402Val) rs1582198261
NM_004370.6(COL12A1):c.1205T>A (p.Ile402Asn)
NM_004370.6(COL12A1):c.1223A>C (p.Lys408Thr) rs1325717704
NM_004370.6(COL12A1):c.1225G>C (p.Gly409Arg)
NM_004370.6(COL12A1):c.1226G>A (p.Gly409Glu) rs775157077
NM_004370.6(COL12A1):c.1232C>A (p.Thr411Lys) rs2149467046
NM_004370.6(COL12A1):c.1243C>T (p.Pro415Ser)
NM_004370.6(COL12A1):c.1248T>C (p.Ile416=) rs2149467023
NM_004370.6(COL12A1):c.125A>G (p.His42Arg) rs760445921
NM_004370.6(COL12A1):c.1263G>C (p.Lys421Asn) rs2149466995
NM_004370.6(COL12A1):c.1273A>G (p.Met425Val) rs2149466974
NM_004370.6(COL12A1):c.1276A>G (p.Lys426Glu) rs1562297194
NM_004370.6(COL12A1):c.1278A>C (p.Lys426Asn) rs1769466109
NM_004370.6(COL12A1):c.1288+12T>G
NM_004370.6(COL12A1):c.1288+15G>A
NM_004370.6(COL12A1):c.1288+18T>C
NM_004370.6(COL12A1):c.1289-13T>G
NM_004370.6(COL12A1):c.1289-15T>C rs2149466614
NM_004370.6(COL12A1):c.1289-17T>A
NM_004370.6(COL12A1):c.1289-19A>G
NM_004370.6(COL12A1):c.1292G>A (p.Cys431Tyr)
NM_004370.6(COL12A1):c.1295C>T (p.Ser432Leu) rs1769450841
NM_004370.6(COL12A1):c.1296A>G (p.Ser432=)
NM_004370.6(COL12A1):c.1303G>A (p.Val435Met) rs1769449076
NM_004370.6(COL12A1):c.1317C>T (p.Ala439=)
NM_004370.6(COL12A1):c.1323T>C (p.Ile441=)
NM_004370.6(COL12A1):c.1337A>T (p.Asp446Val)
NM_004370.6(COL12A1):c.1347T>C (p.Tyr449=)
NM_004370.6(COL12A1):c.1356G>T (p.Gly452=) rs372285460
NM_004370.6(COL12A1):c.1368T>A (p.Phe456Leu)
NM_004370.6(COL12A1):c.136G>A (p.Ala46Thr)
NM_004370.6(COL12A1):c.1372A>C (p.Lys458Gln)
NM_004370.6(COL12A1):c.1381G>A (p.Ala461Thr)
NM_004370.6(COL12A1):c.1383C>G (p.Ala461=)
NM_004370.6(COL12A1):c.1391A>G (p.Glu464Gly)
NM_004370.6(COL12A1):c.1398T>A (p.Leu466=) rs2149466384
NM_004370.6(COL12A1):c.1414A>G (p.Ile472Val) rs2149466346
NM_004370.6(COL12A1):c.141A>G (p.Lys47=) rs2149482731
NM_004370.6(COL12A1):c.1425T>A (p.Asn475Lys)
NM_004370.6(COL12A1):c.1427G>C (p.Arg476Thr)
NM_004370.6(COL12A1):c.1434G>A (p.Gln478=) rs762385473
NM_004370.6(COL12A1):c.1441C>T (p.Leu481Phe)
NM_004370.6(COL12A1):c.1449A>G (p.Gln483=) rs533536940
NM_004370.6(COL12A1):c.1467T>G (p.His489Gln) rs779234808
NM_004370.6(COL12A1):c.1488dup (p.Phe497fs) rs1582196903
NM_004370.6(COL12A1):c.1489T>C (p.Phe497Leu)
NM_004370.6(COL12A1):c.1489T>G (p.Phe497Val) rs1769434215
NM_004370.6(COL12A1):c.1491C>T (p.Phe497=)
NM_004370.6(COL12A1):c.1494C>A (p.Thr498=) rs777711709
NM_004370.6(COL12A1):c.1494C>G (p.Thr498=) rs777711709
NM_004370.6(COL12A1):c.1494C>T (p.Thr498=)
NM_004370.6(COL12A1):c.1508T>C (p.Ile503Thr)
NM_004370.6(COL12A1):c.1519A>G (p.Ile507Val)
NM_004370.6(COL12A1):c.1524C>A (p.Asn508Lys) rs2149466133
NM_004370.6(COL12A1):c.1525del (p.Thr509fs)
NM_004370.6(COL12A1):c.1531C>T (p.Pro511Ser)
NM_004370.6(COL12A1):c.1543G>A (p.Gly515Arg) rs2149466076
NM_004370.6(COL12A1):c.1545A>G (p.Gly515=)
NM_004370.6(COL12A1):c.1545A>T (p.Gly515=)
NM_004370.6(COL12A1):c.1553A>C (p.Asn518Thr)
NM_004370.6(COL12A1):c.1555A>G (p.Thr519Ala)
NM_004370.6(COL12A1):c.1557T>A (p.Thr519=)
NM_004370.6(COL12A1):c.1559G>C (p.Gly520Ala)
NM_004370.6(COL12A1):c.155T>C (p.Ile52Thr) rs1770137078
NM_004370.6(COL12A1):c.1560C>T (p.Gly520=) rs2149466030
NM_004370.6(COL12A1):c.1561A>G (p.Lys521Glu) rs774728500
NM_004370.6(COL12A1):c.1566A>G (p.Ala522=)
NM_004370.6(COL12A1):c.1569G>T (p.Met523Ile)
NM_004370.6(COL12A1):c.1581A>G (p.Arg527=) rs1003898953
NM_004370.6(COL12A1):c.1594G>A (p.Val532Met)
NM_004370.6(COL12A1):c.1599T>C (p.Pro533=)
NM_004370.6(COL12A1):c.15T>C (p.Leu5=)
NM_004370.6(COL12A1):c.1601G>A (p.Ser534Asn) rs2149465941
NM_004370.6(COL12A1):c.1606G>A (p.Gly536Arg)
NM_004370.6(COL12A1):c.1608A>T (p.Gly536=)
NM_004370.6(COL12A1):c.1619A>G (p.Asn540Ser)
NM_004370.6(COL12A1):c.1621G>A (p.Val541Met) rs1769421436
NM_004370.6(COL12A1):c.1631T>A (p.Val544Asp) rs1769421051
NM_004370.6(COL12A1):c.1639C>T (p.Leu547Phe)
NM_004370.6(COL12A1):c.163T>C (p.Tyr55His)
NM_004370.6(COL12A1):c.1646C>T (p.Thr549Met) rs557804521
NM_004370.6(COL12A1):c.1647G>T (p.Thr549=) rs761187970
NM_004370.6(COL12A1):c.1649A>G (p.Asp550Gly) rs2149465853
NM_004370.6(COL12A1):c.1656A>G (p.Lys552=) rs2149465844
NM_004370.6(COL12A1):c.1659A>G (p.Ser553=)
NM_004370.6(COL12A1):c.1672A>G (p.Arg558Gly) rs1002113974
NM_004370.6(COL12A1):c.1673G>C (p.Arg558Thr)
NM_004370.6(COL12A1):c.1677T>A (p.Asp559Glu) rs2149465802
NM_004370.6(COL12A1):c.1677T>C (p.Asp559=) rs2149465802
NM_004370.6(COL12A1):c.1678C>T (p.Pro560Ser) rs775466928
NM_004370.6(COL12A1):c.1679C>T (p.Pro560Leu) rs2149465788
NM_004370.6(COL12A1):c.1682C>A (p.Ala561Glu)
NM_004370.6(COL12A1):c.1682C>T (p.Ala561Val) rs1344964508
NM_004370.6(COL12A1):c.1694G>A (p.Arg565Lys)
NM_004370.6(COL12A1):c.1697del (p.Asn566fs)
NM_004370.6(COL12A1):c.1707T>C (p.Val569=)
NM_004370.6(COL12A1):c.1717G>A (p.Ala573Thr)
NM_004370.6(COL12A1):c.1725T>C (p.Gly575=)
NM_004370.6(COL12A1):c.1731G>A (p.Lys577=)
NM_004370.6(COL12A1):c.1732G>A (p.Asp578Asn) rs2149465694
NM_004370.6(COL12A1):c.1732G>T (p.Asp578Tyr) rs2149465694
NM_004370.6(COL12A1):c.1736C>T (p.Ala579Val)
NM_004370.6(COL12A1):c.173C>G (p.Thr58Arg)
NM_004370.6(COL12A1):c.173C>T (p.Thr58Met) rs140583215
NM_004370.6(COL12A1):c.1741C>A (p.Arg581Ser)
NM_004370.6(COL12A1):c.1763C>A (p.Ala588Asp)
NM_004370.6(COL12A1):c.1764C>T (p.Ala588=)
NM_004370.6(COL12A1):c.1768C>T (p.Pro590Ser)
NM_004370.6(COL12A1):c.176T>C (p.Val59Ala) rs1770135564
NM_004370.6(COL12A1):c.1779G>C (p.Glu593Asp)
NM_004370.6(COL12A1):c.1784A>T (p.His595Leu)
NM_004370.6(COL12A1):c.1785T>C (p.His595=) rs2149465524
NM_004370.6(COL12A1):c.1788G>A (p.Val596=)
NM_004370.6(COL12A1):c.17C>T (p.Pro6Leu)
NM_004370.6(COL12A1):c.1818G>C (p.Gln606His)
NM_004370.6(COL12A1):c.1819A>G (p.Arg607Gly)
NM_004370.6(COL12A1):c.1832A>G (p.Glu611Gly)
NM_004370.6(COL12A1):c.1839A>G (p.Thr613=)
NM_004370.6(COL12A1):c.1845T>A (p.Ser615=) rs1484924756
NM_004370.6(COL12A1):c.185C>G (p.Thr62Arg) rs779409298
NM_004370.6(COL12A1):c.1860T>C (p.Ile620=)
NM_004370.6(COL12A1):c.1868A>G (p.Glu623Gly) rs1356178155
NM_004370.6(COL12A1):c.1881A>G (p.Ile627Met) rs962496340
NM_004370.6(COL12A1):c.188C>G (p.Thr63Arg)
NM_004370.6(COL12A1):c.1890A>C (p.Lys630Asn)
NM_004370.6(COL12A1):c.1891+13T>C
NM_004370.6(COL12A1):c.1891+14G>A
NM_004370.6(COL12A1):c.1891+17A>G
NM_004370.6(COL12A1):c.1891+4A>C rs148292262
NM_004370.6(COL12A1):c.1891+6T>C
NM_004370.6(COL12A1):c.1891G>A (p.Ala631Thr) rs952803259
NM_004370.6(COL12A1):c.1891G>T (p.Ala631Ser) rs952803259
NM_004370.6(COL12A1):c.1892-14_1892-13insA
NM_004370.6(COL12A1):c.1892-19_1892-18dup rs11347601
NM_004370.6(COL12A1):c.1892-19dup rs11347601
NM_004370.6(COL12A1):c.1892-6_1892-5insG rs752652515
NM_004370.6(COL12A1):c.1892-6_1892-5insT rs752652515
NM_004370.6(COL12A1):c.1892-6dup rs753233369
NM_004370.6(COL12A1):c.1892-7T>C rs779185109
NM_004370.6(COL12A1):c.1892-7del rs11347601
NM_004370.6(COL12A1):c.1892-9_1892-8insTTTTTTTTTTTAACTGTCT rs560088357
NM_004370.6(COL12A1):c.1897G>A (p.Val633Ile) rs200315815
NM_004370.6(COL12A1):c.1897G>C (p.Val633Leu) rs200315815
NM_004370.6(COL12A1):c.1897G>T (p.Val633Phe) rs200315815
NM_004370.6(COL12A1):c.1898T>C (p.Val633Ala)
NM_004370.6(COL12A1):c.190+11A>G
NM_004370.6(COL12A1):c.190+18G>A
NM_004370.6(COL12A1):c.1905A>G (p.Pro635=)
NM_004370.6(COL12A1):c.190G>A (p.Asp64Asn)
NM_004370.6(COL12A1):c.191-16C>A rs2149479283
NM_004370.6(COL12A1):c.191-8A>G
NM_004370.6(COL12A1):c.1917T>C (p.Ser639=) rs2149462302
NM_004370.6(COL12A1):c.1921del (p.Ser641fs) rs2149462293
NM_004370.6(COL12A1):c.1925A>C (p.Glu642Ala) rs1769262393
NM_004370.6(COL12A1):c.1926A>G (p.Glu642=) rs2149462277
NM_004370.6(COL12A1):c.1936T>A (p.Tyr646Asn)
NM_004370.6(COL12A1):c.1945A>C (p.Lys649Gln)
NM_004370.6(COL12A1):c.1945_1946delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCTGGTGCACTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCC (p.Lys649delinsPhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePheXaaXaaXaaXaaLeuValHisCysThrHisTer)
NM_004370.6(COL12A1):c.194G>A (p.Gly65Glu) rs2149479257
NM_004370.6(COL12A1):c.1952_1966delinsTAA (p.Asn651_Gly656delinsIleArg)
NM_004370.6(COL12A1):c.1967G>C (p.Gly656Ala) rs2149462234
NM_004370.6(COL12A1):c.1976T>G (p.Val659Gly)
NM_004370.6(COL12A1):c.1984del (p.Tyr662fs) rs1769258754
NM_004370.6(COL12A1):c.198T>C (p.Pro66=)
NM_004370.6(COL12A1):c.1990A>G (p.Ile664Val) rs1769258112
NM_004370.6(COL12A1):c.2002G>A (p.Glu668Lys) rs2149462161
NM_004370.6(COL12A1):c.2008G>T (p.Ala670Ser) rs1769255982
NM_004370.6(COL12A1):c.2014G>A (p.Asp672Asn) rs1233438359
NM_004370.6(COL12A1):c.2022G>A (p.Glu674=) rs1582191777
NM_004370.6(COL12A1):c.2038C>G (p.Pro680Ala) rs1562290248
NM_004370.6(COL12A1):c.2044T>A (p.Ser682Thr) rs371321756
NM_004370.6(COL12A1):c.2045C>T (p.Ser682Leu)
NM_004370.6(COL12A1):c.2046G>A (p.Ser682=) rs1039108581
NM_004370.6(COL12A1):c.2057T>C (p.Val686Ala)
NM_004370.6(COL12A1):c.2061T>C (p.Val687=)
NM_004370.6(COL12A1):c.2062C>G (p.Leu688Val)
NM_004370.6(COL12A1):c.207A>G (p.Glu69=) rs2149479234
NM_004370.6(COL12A1):c.2100T>A (p.Asn700Lys)
NM_004370.6(COL12A1):c.2100T>C (p.Asn700=) rs2149461949
NM_004370.6(COL12A1):c.2114A>G (p.Tyr705Cys)
NM_004370.6(COL12A1):c.2118G>A (p.Glu706=) rs2149461922
NM_004370.6(COL12A1):c.2119G>A (p.Asp707Asn) rs2149461916
NM_004370.6(COL12A1):c.2120_2123dup (p.Phe709fs)
NM_004370.6(COL12A1):c.2123G>T (p.Gly708Val) rs2149461913
NM_004370.6(COL12A1):c.212C>T (p.Thr71Ile)
NM_004370.6(COL12A1):c.2131A>G (p.Ile711Val) rs773755693
NM_004370.6(COL12A1):c.2134C>T (p.Pro712Ser)
NM_004370.6(COL12A1):c.2135C>T (p.Pro712Leu)
NM_004370.6(COL12A1):c.2145A>G (p.Gly715=)
NM_004370.6(COL12A1):c.2147A>C (p.Glu716Ala)
NM_004370.6(COL12A1):c.2149G>A (p.Glu717Lys)
NM_004370.6(COL12A1):c.215T>C (p.Leu72Pro) rs1562315490
NM_004370.6(COL12A1):c.2164+6A>G rs746467248
NM_004370.6(COL12A1):c.2164+8G>C
NM_004370.6(COL12A1):c.2165-4T>C
NM_004370.6(COL12A1):c.2172A>T (p.Gly724=)
NM_004370.6(COL12A1):c.2173G>A (p.Ala725Thr) rs984509796
NM_004370.6(COL12A1):c.2173G>T (p.Ala725Ser) rs984509796
NM_004370.6(COL12A1):c.2174C>A (p.Ala725Glu) rs1341300538
NM_004370.6(COL12A1):c.2189A>C (p.Lys730Thr) rs1769052023
NM_004370.6(COL12A1):c.2194A>G (p.Thr732Ala) rs1769051365
NM_004370.6(COL12A1):c.2205T>G (p.Thr735=)
NM_004370.6(COL12A1):c.2213G>C (p.Ser738Thr) rs750973541
NM_004370.6(COL12A1):c.2216T>G (p.Phe739Cys) rs2149457038
NM_004370.6(COL12A1):c.2225C>G (p.Thr742Ser)
NM_004370.6(COL12A1):c.2232T>C (p.Thr744=)
NM_004370.6(COL12A1):c.2233C>T (p.Gln745Ter) rs1554186583
NM_004370.6(COL12A1):c.2244G>A (p.Gly748=) rs2149456961
NM_004370.6(COL12A1):c.2245A>T (p.Arg749Ter)
NM_004370.6(COL12A1):c.2252T>G (p.Leu751Ter)
NM_004370.6(COL12A1):c.2260C>A (p.Arg754=)
NM_004370.6(COL12A1):c.2260C>T (p.Arg754Ter) rs1034315777
NM_004370.6(COL12A1):c.2263A>G (p.Ile755Val) rs1769044982
NM_004370.6(COL12A1):c.2265T>C (p.Ile755=) rs982309132
NM_004370.6(COL12A1):c.2278G>T (p.Val760Phe) rs2149456891
NM_004370.6(COL12A1):c.2282C>G (p.Ala761Gly)
NM_004370.6(COL12A1):c.2288G>T (p.Gly763Val)
NM_004370.6(COL12A1):c.228C>T (p.Thr76=) rs1432448789
NM_004370.6(COL12A1):c.2292G>A (p.Glu764=) rs2149456858
NM_004370.6(COL12A1):c.2297G>A (p.Arg766Lys)
NM_004370.6(COL12A1):c.2306C>G (p.Thr769Ser)
NM_004370.6(COL12A1):c.2308A>G (p.Thr770Ala) rs2149456824
NM_004370.6(COL12A1):c.2309C>T (p.Thr770Ile)
NM_004370.6(COL12A1):c.2312C>T (p.Pro771Leu)
NM_004370.6(COL12A1):c.2322GAG[2] (p.Arg777del)
NM_004370.6(COL12A1):c.2327G>A (p.Arg776Lys)
NM_004370.6(COL12A1):c.2333C>T (p.Thr778Ile)
NM_004370.6(COL12A1):c.2341A>G (p.Asn781Asp) rs2149456727
NM_004370.6(COL12A1):c.2342A>G (p.Asn781Ser)
NM_004370.6(COL12A1):c.2351C>T (p.Pro784Leu)
NM_004370.6(COL12A1):c.2355C>A (p.Asp785Glu) rs2149456708
NM_004370.6(COL12A1):c.2358G>A (p.Thr786=)
NM_004370.6(COL12A1):c.236C>A (p.Thr79Asn)
NM_004370.6(COL12A1):c.2382T>A (p.Pro794=)
NM_004370.6(COL12A1):c.2393C>T (p.Ser798Leu)
NM_004370.6(COL12A1):c.2403T>A (p.Gly801=) rs750671040
NM_004370.6(COL12A1):c.2405C>T (p.Thr802Ile) rs1769035606
NM_004370.6(COL12A1):c.2422G>A (p.Ala808Thr) rs772493333
NM_004370.6(COL12A1):c.2425G>A (p.Ala809Thr)
NM_004370.6(COL12A1):c.2426C>T (p.Ala809Val)
NM_004370.6(COL12A1):c.2431G>A (p.Glu811Lys)
NM_004370.6(COL12A1):c.2436A>C (p.Glu812Asp) rs1769033719
NM_004370.6(COL12A1):c.2437+18A>G
NM_004370.6(COL12A1):c.2437+6G>A rs1769033413
NM_004370.6(COL12A1):c.2438-11T>C
NM_004370.6(COL12A1):c.2438-14A>C
NM_004370.6(COL12A1):c.2438-20G>A
NM_004370.6(COL12A1):c.2438-5T>C rs1768879542
NM_004370.6(COL12A1):c.2438-8dup rs1032205753
NM_004370.6(COL12A1):c.243G>T (p.Leu81Phe)
NM_004370.6(COL12A1):c.2444G>T (p.Gly815Val)
NM_004370.6(COL12A1):c.2453G>A (p.Arg818Lys) rs371428645
NM_004370.6(COL12A1):c.2457C>A (p.Asp819Glu)
NM_004370.6(COL12A1):c.2460A>G (p.Leu820=)
NM_004370.6(COL12A1):c.2461A>G (p.Arg821Gly) rs1768877676
NM_004370.6(COL12A1):c.2476A>G (p.Thr826Ala)
NM_004370.6(COL12A1):c.2485A>G (p.Thr829Ala) rs1194621615
NM_004370.6(COL12A1):c.2488A>G (p.Met830Val) rs1489423171
NM_004370.6(COL12A1):c.2494T>A (p.Leu832Ile)
NM_004370.6(COL12A1):c.2501G>T (p.Trp834Leu)
NM_004370.6(COL12A1):c.2506G>C (p.Gly836Arg)
NM_004370.6(COL12A1):c.2521G>C (p.Val841Leu) rs2149452205
NM_004370.6(COL12A1):c.2527C>G (p.Gln843Glu) rs2149452194
NM_004370.6(COL12A1):c.2528A>T (p.Gln843Leu) rs2149452186
NM_004370.6(COL12A1):c.2529G>A (p.Gln843=) rs374489011
NM_004370.6(COL12A1):c.2535C>T (p.Leu845=) rs372378385
NM_004370.6(COL12A1):c.2541A>G (p.Thr847=) rs775341470
NM_004370.6(COL12A1):c.2546C>A (p.Thr849Asn) rs559028883
NM_004370.6(COL12A1):c.2547C>T (p.Thr849=)
NM_004370.6(COL12A1):c.2559G>C (p.Gly853=)
NM_004370.6(COL12A1):c.2561del (p.Gly854fs) rs1582179372
NM_004370.6(COL12A1):c.2591A>T (p.Asp864Val) rs2149452026
NM_004370.6(COL12A1):c.2594C>G (p.Thr865Arg)
NM_004370.6(COL12A1):c.2604G>A (p.Thr868=) rs554348257
NM_004370.6(COL12A1):c.2604G>T (p.Thr868=) rs554348257
NM_004370.6(COL12A1):c.2605G>A (p.Val869Met) rs764066205
NM_004370.6(COL12A1):c.2605G>T (p.Val869Leu) rs764066205
NM_004370.6(COL12A1):c.2619G>A (p.Leu873=) rs2149451975
NM_004370.6(COL12A1):c.2622G>C (p.Lys874Asn)
NM_004370.6(COL12A1):c.2629A>G (p.Thr877Ala)
NM_004370.6(COL12A1):c.2631A>G (p.Thr877=) rs2149451941
NM_004370.6(COL12A1):c.2644T>G (p.Ser882Ala) rs1277353575
NM_004370.6(COL12A1):c.2647G>A (p.Val883Met)
NM_004370.6(COL12A1):c.2656T>A (p.Leu886Met)
NM_004370.6(COL12A1):c.265G>A (p.Glu89Lys)
NM_004370.6(COL12A1):c.2663C>A (p.Ala888Glu) rs777386471
NM_004370.6(COL12A1):c.2663C>T (p.Ala888Val) rs777386471
NM_004370.6(COL12A1):c.266A>C (p.Glu89Ala) rs1278211393
NM_004370.6(COL12A1):c.2680G>T (p.Ala894Ser)
NM_004370.6(COL12A1):c.2683C>G (p.Leu895Val)
NM_004370.6(COL12A1):c.2689G>C (p.Gly897Arg) rs2149451801
NM_004370.6(COL12A1):c.2690G>T (p.Gly897Val)
NM_004370.6(COL12A1):c.2691T>G (p.Gly897=) rs1554186131
NM_004370.6(COL12A1):c.2694A>T (p.Glu898Asp) rs1768851120
NM_004370.6(COL12A1):c.2703A>C (p.Thr901=) rs1554186125
NM_004370.6(COL12A1):c.2710+17_2710+18insTA
NM_004370.6(COL12A1):c.2710+7A>G rs969629618
NM_004370.6(COL12A1):c.2710+8C>A
NM_004370.6(COL12A1):c.2710+8_2710+9delinsTTTTCTGAAA rs2149451710
NM_004370.6(COL12A1):c.2711-15dup
NM_004370.6(COL12A1):c.2711-5T>G
NM_004370.6(COL12A1):c.2711-9C>A rs2149439017
NM_004370.6(COL12A1):c.2714G>C (p.Arg905Pro) rs369193482
NM_004370.6(COL12A1):c.2720C>T (p.Ser907Phe)
NM_004370.6(COL12A1):c.2722C>T (p.Pro908Ser)
NM_004370.6(COL12A1):c.2729A>T (p.Asp910Val)
NM_004370.6(COL12A1):c.2730T>C (p.Asp910=)
NM_004370.6(COL12A1):c.2743G>A (p.Asp915Asn)
NM_004370.6(COL12A1):c.2756C>T (p.Thr919Ile)
NM_004370.6(COL12A1):c.2761A>G (p.Ile921Val)
NM_004370.6(COL12A1):c.2762T>C (p.Ile921Thr) rs1768261723
NM_004370.6(COL12A1):c.2765G>A (p.Gly922Glu)
NM_004370.6(COL12A1):c.2766G>A (p.Gly922=) rs1768261405
NM_004370.6(COL12A1):c.2766G>T (p.Gly922=)
NM_004370.6(COL12A1):c.2787A>G (p.Pro929=)
NM_004370.6(COL12A1):c.2794G>A (p.Val932Ile) rs1768259480
NM_004370.6(COL12A1):c.2797C>G (p.Arg933Gly)
NM_004370.6(COL12A1):c.2798G>A (p.Arg933His) rs779848906
NM_004370.6(COL12A1):c.27_42del (p.Ala10fs) rs2149492561
NM_004370.6(COL12A1):c.2800G>A (p.Gly934Ser)
NM_004370.6(COL12A1):c.2808G>A (p.Arg936=)
NM_004370.6(COL12A1):c.280A>G (p.Ile94Val)
NM_004370.6(COL12A1):c.2814A>G (p.Ser938=)
NM_004370.6(COL12A1):c.2820A>C (p.Lys940Asn)
NM_004370.6(COL12A1):c.2825T>C (p.Leu942Pro) rs2149438769
NM_004370.6(COL12A1):c.2831A>T (p.Asp944Val)
NM_004370.6(COL12A1):c.2832T>C (p.Asp944=) rs375540397
NM_004370.6(COL12A1):c.2833G>A (p.Asp945Asn)
NM_004370.6(COL12A1):c.2851A>G (p.Lys951Glu) rs1253194188
NM_004370.6(COL12A1):c.2856T>C (p.Asn952=)
NM_004370.6(COL12A1):c.2862T>G (p.Pro954=) rs930413173
NM_004370.6(COL12A1):c.2865A>G (p.Glu955=)
NM_004370.6(COL12A1):c.2870C>A (p.Ala957Glu) rs1236232001
NM_004370.6(COL12A1):c.2881A>T (p.Met961Leu) rs370815575
NM_004370.6(COL12A1):c.2891A>G (p.Asn964Ser)
NM_004370.6(COL12A1):c.2897A>G (p.Gln966Arg)
NM_004370.6(COL12A1):c.2901A>G (p.Pro967=)
NM_004370.6(COL12A1):c.2907C>T (p.Thr969=)
NM_004370.6(COL12A1):c.290A>G (p.Tyr97Cys)
NM_004370.6(COL12A1):c.2914A>G (p.Arg972Gly) rs1768252416
NM_004370.6(COL12A1):c.291TGA[1] (p.Asp98del)
NM_004370.6(COL12A1):c.2932A>G (p.Thr978Ala)
NM_004370.6(COL12A1):c.2935T>C (p.Tyr979His)
NM_004370.6(COL12A1):c.2944G>A (p.Gly982Arg)
NM_004370.6(COL12A1):c.2948_2950del (p.Glu983del) rs1768250668
NM_004370.6(COL12A1):c.2957C>A (p.Pro986His) rs752812483
NM_004370.6(COL12A1):c.2966G>C (p.Gly989Ala)
NM_004370.6(COL12A1):c.2970T>A (p.Asp990Glu)
NM_004370.6(COL12A1):c.2976A>C (p.Thr992=)
NM_004370.6(COL12A1):c.2982A>G (p.Glu994=) rs1768247192
NM_004370.6(COL12A1):c.2983+11T>C
NM_004370.6(COL12A1):c.2983+12_2983+14del
NM_004370.6(COL12A1):c.2983+17G>A
NM_004370.6(COL12A1):c.2983+1G>T
NM_004370.6(COL12A1):c.2983+2T>G
NM_004370.6(COL12A1):c.2983+3A>C
NM_004370.6(COL12A1):c.2983+3del
NM_004370.6(COL12A1):c.2984-18C>A
NM_004370.6(COL12A1):c.2984-18C>G
NM_004370.6(COL12A1):c.2984-7C>T
NM_004370.6(COL12A1):c.2984-8T>C
NM_004370.6(COL12A1):c.2987C>T (p.Ser996Phe) rs1582147328
NM_004370.6(COL12A1):c.2989C>A (p.Gln997Lys) rs1767775935
NM_004370.6(COL12A1):c.2996C>A (p.Ser999Tyr) rs1767775644
NM_004370.6(COL12A1):c.299T>C (p.Val100Ala)
NM_004370.6(COL12A1):c.29_30delinsAA (p.Ala10Glu) rs1562335715
NM_004370.6(COL12A1):c.3031A>G (p.Thr1011Ala) rs1767774122
NM_004370.6(COL12A1):c.3035T>C (p.Met1012Thr)
NM_004370.6(COL12A1):c.3057A>G (p.Ala1019=) rs753423916
NM_004370.6(COL12A1):c.3066A>G (p.Lys1022=)
NM_004370.6(COL12A1):c.3067G>A (p.Val1023Ile)
NM_004370.6(COL12A1):c.3070G>A (p.Val1024Ile) rs200985706
NM_004370.6(COL12A1):c.3085G>A (p.Val1029Ile) rs1582147115
NM_004370.6(COL12A1):c.3086T>C (p.Val1029Ala) rs1582147110
NM_004370.6(COL12A1):c.3089A>G (p.Tyr1030Cys) rs2149424485
NM_004370.6(COL12A1):c.3091C>A (p.Arg1031Ser) rs575168916
NM_004370.6(COL12A1):c.3095C>A (p.Pro1032His)
NM_004370.6(COL12A1):c.3100G>A (p.Gly1034Arg) rs2149424441
NM_004370.6(COL12A1):c.3117G>A (p.Met1039Ile) rs1767764943
NM_004370.6(COL12A1):c.3122C>G (p.Ala1041Gly)
NM_004370.6(COL12A1):c.3125A>C (p.Lys1042Thr) rs1767764412
NM_004370.6(COL12A1):c.3127G>T (p.Val1043Leu)
NM_004370.6(COL12A1):c.3128T>C (p.Val1043Ala)
NM_004370.6(COL12A1):c.3128T>G (p.Val1043Gly) rs2149424377
NM_004370.6(COL12A1):c.3135C>A (p.Pro1045=) rs1582146956
NM_004370.6(COL12A1):c.3137C>T (p.Thr1046Ile)
NM_004370.6(COL12A1):c.3142A>G (p.Thr1048Ala)
NM_004370.6(COL12A1):c.3143C>T (p.Thr1048Ile)
NM_004370.6(COL12A1):c.3146C>T (p.Ser1049Leu) rs772210650
NM_004370.6(COL12A1):c.3147G>C (p.Ser1049=)
NM_004370.6(COL12A1):c.3160C>T (p.Arg1054Ter) rs868543538
NM_004370.6(COL12A1):c.3161G>A (p.Arg1054Gln) rs577784031
NM_004370.6(COL12A1):c.3180A>G (p.Thr1060=)
NM_004370.6(COL12A1):c.3183T>C (p.Tyr1061=)
NM_004370.6(COL12A1):c.3185A>T (p.Asp1062Val)
NM_004370.6(COL12A1):c.3188T>C (p.Ile1063Thr)
NM_004370.6(COL12A1):c.3193G>A (p.Val1065Ile)
NM_004370.6(COL12A1):c.3217G>A (p.Glu1073Lys) rs2149424189
NM_004370.6(COL12A1):c.3228T>C (p.Leu1076=)
NM_004370.6(COL12A1):c.3233A>G (p.Gln1078Arg)
NM_004370.6(COL12A1):c.3242G>C (p.Gly1081Ala)
NM_004370.6(COL12A1):c.3250+16T>G rs1554183547
NM_004370.6(COL12A1):c.3250+7AAT[2] rs778868677
NM_004370.6(COL12A1):c.3250G>A (p.Ala1084Thr)
NM_004370.6(COL12A1):c.3251-8C>T rs754632351
NM_004370.6(COL12A1):c.3254C>G (p.Ser1085Cys)
NM_004370.6(COL12A1):c.3256C>T (p.Arg1086Trp)
NM_004370.6(COL12A1):c.3257G>A (p.Arg1086Gln)
NM_004370.6(COL12A1):c.3259T>C (p.Phe1087Leu) rs2149423356
NM_004370.6(COL12A1):c.3260T>G (p.Phe1087Cys) rs1767727217
NM_004370.6(COL12A1):c.326A>C (p.Gln109Pro)
NM_004370.6(COL12A1):c.3271A>G (p.Arg1091Gly)
NM_004370.6(COL12A1):c.3279C>A (p.Leu1093=)
NM_004370.6(COL12A1):c.3287C>T (p.Ser1096Phe) rs2149423302
NM_004370.6(COL12A1):c.3295_3298del (p.Thr1099fs)
NM_004370.6(COL12A1):c.3301T>C (p.Ser1101Pro)
NM_004370.6(COL12A1):c.3305G>A (p.Ser1102Asn) rs2149423269
NM_004370.6(COL12A1):c.330A>G (p.Leu110=) rs2149479020
NM_004370.6(COL12A1):c.3311G>A (p.Arg1104Gln) rs2149423255
NM_004370.6(COL12A1):c.3323A>G (p.Glu1108Gly)
NM_004370.6(COL12A1):c.3329C>A (p.Ala1110Asp) rs1767721141
NM_004370.6(COL12A1):c.332C>A (p.Thr111Lys)
NM_004370.6(COL12A1):c.3331C>G (p.Pro1111Ala) rs1272550670
NM_004370.6(COL12A1):c.3332C>A (p.Pro1111His) rs2149423214
NM_004370.6(COL12A1):c.3337G>A (p.Glu1113Lys)
NM_004370.6(COL12A1):c.334+13A>T rs991483498
NM_004370.6(COL12A1):c.334+18del rs2149478980
NM_004370.6(COL12A1):c.334+4A>T rs1769967046
NM_004370.6(COL12A1):c.3340G>A (p.Val1114Met) rs2149423183
NM_004370.6(COL12A1):c.335-15A>G
NM_004370.6(COL12A1):c.335-1G>C rs779800232
NM_004370.6(COL12A1):c.335-22TAA[2]
NM_004370.6(COL12A1):c.335-8del rs2149478420
NM_004370.6(COL12A1):c.3350A>G (p.Tyr1117Cys) rs1582145759
NM_004370.6(COL12A1):c.3351T>C (p.Tyr1117=) rs776878636
NM_004370.6(COL12A1):c.3366C>T (p.His1122=) rs2149423139
NM_004370.6(COL12A1):c.3371C>T (p.Thr1124Met)
NM_004370.6(COL12A1):c.3372G>A (p.Thr1124=) rs749287034
NM_004370.6(COL12A1):c.3372G>C (p.Thr1124=)
NM_004370.6(COL12A1):c.3386G>A (p.Arg1129Lys)
NM_004370.6(COL12A1):c.3396G>C (p.Glu1132Asp) rs1420617553
NM_004370.6(COL12A1):c.3399A>C (p.Leu1133Phe)
NM_004370.6(COL12A1):c.33C>G (p.Ala11=) rs1770596486
NM_004370.6(COL12A1):c.33C>T (p.Ala11=) rs1770596486
NM_004370.6(COL12A1):c.3407G>A (p.Gly1136Glu)
NM_004370.6(COL12A1):c.3414T>A (p.Tyr1138Ter)
NM_004370.6(COL12A1):c.3420C>T (p.Asn1140=) rs752420015
NM_004370.6(COL12A1):c.3422C>T (p.Thr1141Ile)
NM_004370.6(COL12A1):c.342A>G (p.Thr114=) rs2149478404
NM_004370.6(COL12A1):c.3435G>C (p.Glu1145Asp)
NM_004370.6(COL12A1):c.3438A>G (p.Glu1146=)
NM_004370.6(COL12A1):c.3443+20G>A
NM_004370.6(COL12A1):c.3444-15A>G
NM_004370.6(COL12A1):c.3444-17A>G
NM_004370.6(COL12A1):c.3444-19A>G
NM_004370.6(COL12A1):c.3444-6T>G
NM_004370.6(COL12A1):c.3445G>T (p.Ala1149Ser)
NM_004370.6(COL12A1):c.3453C>A (p.Thr1151=)
NM_004370.6(COL12A1):c.3466A>C (p.Asn1156His) rs764153192
NM_004370.6(COL12A1):c.3467A>T (p.Asn1156Ile) rs759294983
NM_004370.6(COL12A1):c.3483T>C (p.Phe1161=)
NM_004370.6(COL12A1):c.3485A>C (p.Asp1162Ala) rs770692332
NM_004370.6(COL12A1):c.3491G>A (p.Gly1164Glu)
NM_004370.6(COL12A1):c.3493G>A (p.Glu1165Lys)
NM_004370.6(COL12A1):c.3497G>A (p.Ser1166Asn)
NM_004370.6(COL12A1):c.3517G>C (p.Glu1173Gln) rs1767653671
NM_004370.6(COL12A1):c.351G>T (p.Ser117=)
NM_004370.6(COL12A1):c.3529C>A (p.Leu1177Ile)
NM_004370.6(COL12A1):c.3534C>A (p.Ser1178=)
NM_004370.6(COL12A1):c.3544G>A (p.Val1182Ile)
NM_004370.6(COL12A1):c.3545T>A (p.Val1182Asp)
NM_004370.6(COL12A1):c.3550C>G (p.Pro1184Ala)
NM_004370.6(COL12A1):c.3556T>C (p.Leu1186=)
NM_004370.6(COL12A1):c.3558A>G (p.Leu1186=)
NM_004370.6(COL12A1):c.3561T>A (p.Ser1187=) rs1582143439
NM_004370.6(COL12A1):c.3562T>C (p.Ser1188Pro) rs1190415160
NM_004370.6(COL12A1):c.3563C>T (p.Ser1188Phe)
NM_004370.6(COL12A1):c.3565+11G>A
NM_004370.6(COL12A1):c.3565+1G>A
NM_004370.6(COL12A1):c.3566-15T>C
NM_004370.6(COL12A1):c.3566-19C>G
NM_004370.6(COL12A1):c.3566-5G>A rs2149417897
NM_004370.6(COL12A1):c.3566-6T>C
NM_004370.6(COL12A1):c.3566-7A>G
NM_004370.6(COL12A1):c.3566-8C>G rs201709757
NM_004370.6(COL12A1):c.3566-8C>T
NM_004370.6(COL12A1):c.3590A>G (p.Glu1197Gly)
NM_004370.6(COL12A1):c.3635G>A (p.Arg1212Gln) rs775382202
NM_004370.6(COL12A1):c.3646A>C (p.Arg1216=)
NM_004370.6(COL12A1):c.3650C>A (p.Thr1217Asn) rs1436778165
NM_004370.6(COL12A1):c.366G>A (p.Glu122=)
NM_004370.6(COL12A1):c.3691A>G (p.Ile1231Val) rs1449618151
NM_004370.6(COL12A1):c.3694G>C (p.Gly1232Arg)
NM_004370.6(COL12A1):c.36G>A (p.Leu12=)
NM_004370.6(COL12A1):c.36G>T (p.Leu12=)
NM_004370.6(COL12A1):c.3712A>T (p.Ile1238Phe)
NM_004370.6(COL12A1):c.3713T>C (p.Ile1238Thr) rs2149417585
NM_004370.6(COL12A1):c.3715+17T>C
NM_004370.6(COL12A1):c.3715+18T>C
NM_004370.6(COL12A1):c.3715+1G>T
NM_004370.6(COL12A1):c.3716-10G>T
NM_004370.6(COL12A1):c.3716-20T>C rs1176638204
NM_004370.6(COL12A1):c.3733G>C (p.Gly1245Arg)
NM_004370.6(COL12A1):c.3736G>A (p.Asp1246Asn) rs1582139804
NM_004370.6(COL12A1):c.373C>A (p.Pro125Thr)
NM_004370.6(COL12A1):c.3758T>G (p.Leu1253Ter) rs1582139761
NM_004370.6(COL12A1):c.3764C>T (p.Ala1255Val)
NM_004370.6(COL12A1):c.3766C>A (p.His1256Asn)
NM_004370.6(COL12A1):c.3766C>G (p.His1256Asp)
NM_004370.6(COL12A1):c.3767A>T (p.His1256Leu) rs199692759
NM_004370.6(COL12A1):c.3774C>A (p.Asp1258Glu) rs375043994
NM_004370.6(COL12A1):c.3774C>G (p.Asp1258Glu) rs375043994
NM_004370.6(COL12A1):c.3774C>T (p.Asp1258=)
NM_004370.6(COL12A1):c.3776A>G (p.Lys1259Arg)
NM_004370.6(COL12A1):c.3800C>T (p.Ala1267Val)
NM_004370.6(COL12A1):c.3802A>G (p.Asn1268Asp)
NM_004370.6(COL12A1):c.3809C>T (p.Pro1270Leu)
NM_004370.6(COL12A1):c.3812A>G (p.Tyr1271Cys)
NM_004370.6(COL12A1):c.3814A>G (p.Lys1272Glu) rs1562233846
NM_004370.6(COL12A1):c.3827C>T (p.Thr1276Ile)
NM_004370.6(COL12A1):c.3829C>T (p.Leu1277Phe)
NM_004370.6(COL12A1):c.3835+18G>A
NM_004370.6(COL12A1):c.3835+3_3835+6del
NM_004370.6(COL12A1):c.3862C>A (p.Gln1288Lys)
NM_004370.6(COL12A1):c.3869T>G (p.Phe1290Cys) rs1387157172
NM_004370.6(COL12A1):c.3874A>G (p.Thr1292Ala)
NM_004370.6(COL12A1):c.3876C>T (p.Thr1292=)
NM_004370.6(COL12A1):c.3877C>G (p.Gln1293Glu) rs1489541121
NM_004370.6(COL12A1):c.3881C>G (p.Ala1294Gly) rs1231394496
NM_004370.6(COL12A1):c.3884G>A (p.Gly1295Asp)
NM_004370.6(COL12A1):c.3892C>A (p.Pro1298Thr) rs376766442
NM_004370.6(COL12A1):c.3892C>T (p.Pro1298Ser)
NM_004370.6(COL12A1):c.389T>C (p.Ile130Thr) rs1769938135
NM_004370.6(COL12A1):c.38G>T (p.Gly13Val)
NM_004370.6(COL12A1):c.3902G>A (p.Arg1301Gln)
NM_004370.6(COL12A1):c.390A>T (p.Ile130=)
NM_004370.6(COL12A1):c.3916C>G (p.Leu1306Val)
NM_004370.6(COL12A1):c.3918C>T (p.Leu1306=)
NM_004370.6(COL12A1):c.391C>T (p.Gln131Ter)
NM_004370.6(COL12A1):c.3927T>C (p.Asp1309=)
NM_004370.6(COL12A1):c.3928G>C (p.Gly1310Arg) rs1260669878
NM_004370.6(COL12A1):c.393A>C (p.Gln131His) rs1769937627
NM_004370.6(COL12A1):c.394+11C>T
NM_004370.6(COL12A1):c.394+16A>G
NM_004370.6(COL12A1):c.394+16A>T
NM_004370.6(COL12A1):c.394+1G>A
NM_004370.6(COL12A1):c.394+3G>A
NM_004370.6(COL12A1):c.3942C>G (p.Asp1314Glu) rs570245614
NM_004370.6(COL12A1):c.3942C>T (p.Asp1314=) rs570245614
NM_004370.6(COL12A1):c.3943G>T (p.Asp1315Tyr)
NM_004370.6(COL12A1):c.3946G>A (p.Val1316Ile)
NM_004370.6(COL12A1):c.395-19G>C
NM_004370.6(COL12A1):c.395-19G>T
NM_004370.6(COL12A1):c.395-2A>C rs1562310723
NM_004370.6(COL12A1):c.395-9G>A
NM_004370.6(COL12A1):c.3972G>A (p.Lys1324=)
NM_004370.6(COL12A1):c.3987G>A (p.Glu1329=)
NM_004370.6(COL12A1):c.398G>A (p.Cys133Tyr)
NM_004370.6(COL12A1):c.3994del (p.Ala1332fs) rs1554182935
NM_004370.6(COL12A1):c.3997A>G (p.Ile1333Val) rs557573017
NM_004370.6(COL12A1):c.4000+14A>G
NM_004370.6(COL12A1):c.4000+15G>T
NM_004370.6(COL12A1):c.4000+18C>T
NM_004370.6(COL12A1):c.4000+4C>T rs375772555
NM_004370.6(COL12A1):c.4001-11C>A
NM_004370.6(COL12A1):c.4001-6T>C
NM_004370.6(COL12A1):c.4001G>T (p.Gly1334Val)
NM_004370.6(COL12A1):c.4002T>C (p.Gly1334=) rs1425739513
NM_004370.6(COL12A1):c.4003A>T (p.Ile1335Phe) rs1554182853
NM_004370.6(COL12A1):c.4010A>T (p.Asn1337Ile)
NM_004370.6(COL12A1):c.4013C>T (p.Ala1338Val)
NM_004370.6(COL12A1):c.4020A>G (p.Glu1340=) rs1582137847
NM_004370.6(COL12A1):c.4026A>G (p.Glu1342=) rs2149415478
NM_004370.6(COL12A1):c.4035G>A (p.Met1345Ile)
NM_004370.6(COL12A1):c.4036A>G (p.Ile1346Val) rs2149415452
NM_004370.6(COL12A1):c.4040C>T (p.Ala1347Val)
NM_004370.6(COL12A1):c.4042A>G (p.Thr1348Ala) rs1335085130
NM_004370.6(COL12A1):c.4047T>A (p.Asp1349Glu)
NM_004370.6(COL12A1):c.4048C>T (p.Pro1350Ser)
NM_004370.6(COL12A1):c.4049C>A (p.Pro1350His)
NM_004370.6(COL12A1):c.4049C>T (p.Pro1350Leu)
NM_004370.6(COL12A1):c.4050T>C (p.Pro1350=)
NM_004370.6(COL12A1):c.4051G>A (p.Asp1351Asn) rs1767469659
NM_004370.6(COL12A1):c.4058C>A (p.Thr1353Asn) rs913180274
NM_004370.6(COL12A1):c.4058C>G (p.Thr1353Ser) rs913180274
NM_004370.6(COL12A1):c.4059C>A (p.Thr1353=) rs992754948
NM_004370.6(COL12A1):c.4070A>G (p.Asn1357Ser) rs1562230954
NM_004370.6(COL12A1):c.4086G>A (p.Glu1362=)
NM_004370.6(COL12A1):c.4096A>T (p.Arg1366Trp)
NM_004370.6(COL12A1):c.4101A>C (p.Ile1367=)
NM_004370.6(COL12A1):c.4101A>G (p.Ile1367Met) rs745813975
NM_004370.6(COL12A1):c.4106A>G (p.Asp1369Gly) rs2149415249
NM_004370.6(COL12A1):c.4115C>T (p.Thr1372Ile) rs2149415231
NM_004370.6(COL12A1):c.4117A>G (p.Ile1373Val) rs2149415217
NM_004370.6(COL12A1):c.4118T>G (p.Ile1373Ser) rs1268978531
NM_004370.6(COL12A1):c.4132A>T (p.Ser1378Cys) rs1405840866
NM_004370.6(COL12A1):c.4133G>A (p.Ser1378Asn) rs1033092764
NM_004370.6(COL12A1):c.4147+17G>A
NM_004370.6(COL12A1):c.4147+3A>G
NM_004370.6(COL12A1):c.4147+4A>T
NM_004370.6(COL12A1):c.4148-15dup rs1227725033
NM_004370.6(COL12A1):c.4148-20C>A rs1767317341
NM_004370.6(COL12A1):c.4159G>A (p.Ala1387Thr) rs2149410743
NM_004370.6(COL12A1):c.4165_4167del (p.Ser1389del) rs1767315080
NM_004370.6(COL12A1):c.4172dup (p.Leu1391fs) rs1582133194
NM_004370.6(COL12A1):c.4177A>G (p.Ile1393Val) rs1582133150
NM_004370.6(COL12A1):c.4177del (p.Ile1393fs) rs1767314344
NM_004370.6(COL12A1):c.4181C>G (p.Ser1394Cys)
NM_004370.6(COL12A1):c.4186C>T (p.Arg1396Ter)
NM_004370.6(COL12A1):c.4190C>G (p.Thr1397Ser) rs1767312990
NM_004370.6(COL12A1):c.4191C>T (p.Thr1397=) rs754233830
NM_004370.6(COL12A1):c.41C>T (p.Ala14Val)
NM_004370.6(COL12A1):c.4221A>G (p.Pro1407=) rs2149410580
NM_004370.6(COL12A1):c.4231_4232del (p.Ser1411fs)
NM_004370.6(COL12A1):c.423G>A (p.Leu141=) rs755912419
NM_004370.6(COL12A1):c.4240C>T (p.Arg1414Ter) rs1767310072
NM_004370.6(COL12A1):c.4241G>C (p.Arg1414Pro)
NM_004370.6(COL12A1):c.4245T>A (p.Tyr1415Ter)
NM_004370.6(COL12A1):c.424G>C (p.Val142Leu)
NM_004370.6(COL12A1):c.4254A>T (p.Glu1418Asp)
NM_004370.6(COL12A1):c.4255T>G (p.Tyr1419Asp) rs758640189
NM_004370.6(COL12A1):c.425T>C (p.Val142Ala)
NM_004370.6(COL12A1):c.4261C>A (p.Pro1421Thr)
NM_004370.6(COL12A1):c.4263A>G (p.Pro1421=)
NM_004370.6(COL12A1):c.4269T>C (p.Ser1423=) rs2149410457
NM_004370.6(COL12A1):c.4271G>A (p.Gly1424Glu)
NM_004370.6(COL12A1):c.4279C>A (p.Arg1427Ser) rs779038394
NM_004370.6(COL12A1):c.4281T>A (p.Arg1427=)
NM_004370.6(COL12A1):c.4282C>T (p.Gln1428Ter)
NM_004370.6(COL12A1):c.4284A>G (p.Gln1428=) rs1767306131
NM_004370.6(COL12A1):c.4287+11A>G
NM_004370.6(COL12A1):c.4287+14C>A
NM_004370.6(COL12A1):c.4287+15C>G
NM_004370.6(COL12A1):c.4287+4A>T rs1767305838
NM_004370.6(COL12A1):c.4288-10T>C rs776440408
NM_004370.6(COL12A1):c.4288-14A>G
NM_004370.6(COL12A1):c.4288-15A>G rs2149409487
NM_004370.6(COL12A1):c.4288-19G>C rs1554182346
NM_004370.6(COL12A1):c.4288-6C>G
NM_004370.6(COL12A1):c.4288-9T>C rs1582131968
NM_004370.6(COL12A1):c.4290T>C (p.Phe1430=) rs2149409419
NM_004370.6(COL12A1):c.4297A>G (p.Ser1433Gly)
NM_004370.6(COL12A1):c.4299T>C (p.Ser1433=) rs975876036
NM_004370.6(COL12A1):c.42G>C (p.Ala14=)
NM_004370.6(COL12A1):c.4300C>T (p.Arg1434Ter) rs1562223444
NM_004370.6(COL12A1):c.4301G>A (p.Arg1434Gln) rs779064060
NM_004370.6(COL12A1):c.4301G>T (p.Arg1434Leu) rs779064060
NM_004370.6(COL12A1):c.4313G>A (p.Ser1438Asn) rs889393418
NM_004370.6(COL12A1):c.4316C>T (p.Thr1439Ile)
NM_004370.6(COL12A1):c.4319T>A (p.Val1440Glu) rs1767273965
NM_004370.6(COL12A1):c.4319T>C (p.Val1440Ala)
NM_004370.6(COL12A1):c.4334A>G (p.Lys1445Arg)
NM_004370.6(COL12A1):c.4337C>A (p.Pro1446His)
NM_004370.6(COL12A1):c.4338T>C (p.Pro1446=) rs2149409308
NM_004370.6(COL12A1):c.4338T>G (p.Pro1446=)
NM_004370.6(COL12A1):c.433G>A (p.Val145Met)
NM_004370.6(COL12A1):c.4347A>G (p.Glu1449=)
NM_004370.6(COL12A1):c.4355T>C (p.Val1452Ala)
NM_004370.6(COL12A1):c.4362G>T (p.Val1454=)
NM_004370.6(COL12A1):c.4364A>G (p.Tyr1455Cys) rs1582131685
NM_004370.6(COL12A1):c.436G>T (p.Asp146Tyr) rs1394611159
NM_004370.6(COL12A1):c.4377A>G (p.Glu1459=)
NM_004370.6(COL12A1):c.4387A>T (p.Ser1463Cys) rs897954123
NM_004370.6(COL12A1):c.4392G>A (p.Glu1464=) rs2149409171
NM_004370.6(COL12A1):c.4393C>G (p.Pro1465Ala)
NM_004370.6(COL12A1):c.4394C>T (p.Pro1465Leu)
NM_004370.6(COL12A1):c.4401G>A (p.Lys1467=)
NM_004370.6(COL12A1):c.4404G>A (p.Gly1468=)
NM_004370.6(COL12A1):c.4414dup (p.Thr1472fs) rs1767268002
NM_004370.6(COL12A1):c.4417+2_4417+3del
NM_004370.6(COL12A1):c.4417+4A>G rs2149409130
NM_004370.6(COL12A1):c.4417+5G>A
NM_004370.6(COL12A1):c.4417+9G>A
NM_004370.6(COL12A1):c.4418-18G>C
NM_004370.6(COL12A1):c.4418-20C>G rs2149407223
NM_004370.6(COL12A1):c.4419G>A (p.Leu1473=)
NM_004370.6(COL12A1):c.4419G>T (p.Leu1473Phe)
NM_004370.6(COL12A1):c.4422A>G (p.Pro1474=) rs558383133
NM_004370.6(COL12A1):c.4429G>A (p.Val1477Ile) rs1767188215
NM_004370.6(COL12A1):c.4432G>A (p.Val1478Ile) rs1246887485
NM_004370.6(COL12A1):c.4434C>T (p.Val1478=)
NM_004370.6(COL12A1):c.4445T>C (p.Ile1482Thr) rs760640025
NM_004370.6(COL12A1):c.4447T>C (p.Tyr1483His)
NM_004370.6(COL12A1):c.4449T>C (p.Tyr1483=)
NM_004370.6(COL12A1):c.4463C>A (p.Thr1488Asn) rs771864984
NM_004370.6(COL12A1):c.4463C>G (p.Thr1488Ser)
NM_004370.6(COL12A1):c.4464C>T (p.Thr1488=) rs763276220
NM_004370.6(COL12A1):c.4467C>G (p.Thr1489=)
NM_004370.6(COL12A1):c.4473T>C (p.His1491=)
NM_004370.6(COL12A1):c.4488T>C (p.Pro1496=) rs2149407078
NM_004370.6(COL12A1):c.4493G>A (p.Gly1498Glu)
NM_004370.6(COL12A1):c.4499C>T (p.Ala1500Val)
NM_004370.6(COL12A1):c.4502C>T (p.Thr1501Ile)
NM_004370.6(COL12A1):c.4505G>A (p.Gly1502Asp)
NM_004370.6(COL12A1):c.4506C>G (p.Gly1502=) rs199901074
NM_004370.6(COL12A1):c.4510A>G (p.Ile1504Val) rs1582129070
NM_004370.6(COL12A1):c.4514T>C (p.Leu1505Ser)
NM_004370.6(COL12A1):c.4518A>C (p.Ser1506=)
NM_004370.6(COL12A1):c.4520A>G (p.Tyr1507Cys) rs1767180643
NM_004370.6(COL12A1):c.4528G>A (p.Val1510Ile)
NM_004370.6(COL12A1):c.4537A>G (p.Thr1513Ala)
NM_004370.6(COL12A1):c.4546A>G (p.Thr1516Ala)
NM_004370.6(COL12A1):c.4560+14G>A
NM_004370.6(COL12A1):c.4560+8A>G
NM_004370.6(COL12A1):c.4561-18C>T
NM_004370.6(COL12A1):c.4561-6G>A rs560550352
NM_004370.6(COL12A1):c.4561-7T>C
NM_004370.6(COL12A1):c.4561-7_4561-2del rs1582127639
NM_004370.6(COL12A1):c.4564C>G (p.Arg1522Gly) rs574863380
NM_004370.6(COL12A1):c.4564C>T (p.Arg1522Cys) rs574863380
NM_004370.6(COL12A1):c.4571G>A (p.Gly1524Glu) rs556742432
NM_004370.6(COL12A1):c.4572G>A (p.Gly1524=) rs1767129736
NM_004370.6(COL12A1):c.4574C>T (p.Pro1525Leu)
NM_004370.6(COL12A1):c.4578A>G (p.Thr1526=)
NM_004370.6(COL12A1):c.4579G>A (p.Val1527Met) rs1326246352
NM_004370.6(COL12A1):c.457A>G (p.Arg153Gly) rs2149475927
NM_004370.6(COL12A1):c.4587C>T (p.Asp1529=) rs762128925
NM_004370.6(COL12A1):c.4588A>T (p.Met1530Leu) rs1226808307
NM_004370.6(COL12A1):c.4589T>A (p.Met1530Lys) rs1767128506
NM_004370.6(COL12A1):c.4589T>C (p.Met1530Thr) rs1767128506
NM_004370.6(COL12A1):c.4590G>A (p.Met1530Ile)
NM_004370.6(COL12A1):c.4597A>G (p.Thr1533Ala)
NM_004370.6(COL12A1):c.459A>G (p.Arg153=)
NM_004370.6(COL12A1):c.4600G>A (p.Asp1534Asn)
NM_004370.6(COL12A1):c.4602C>T (p.Asp1534=) rs1767127938
NM_004370.6(COL12A1):c.4609C>T (p.Pro1537Ser) rs1028650601
NM_004370.6(COL12A1):c.4612A>G (p.Asn1538Asp)
NM_004370.6(COL12A1):c.4613A>T (p.Asn1538Ile)
NM_004370.6(COL12A1):c.4616C>A (p.Thr1539Lys) rs373216375
NM_004370.6(COL12A1):c.4620G>A (p.Glu1540=)
NM_004370.6(COL12A1):c.4620G>T (p.Glu1540Asp) rs367865394
NM_004370.6(COL12A1):c.4645C>G (p.Leu1549Val)
NM_004370.6(COL12A1):c.4647G>A (p.Leu1549=)
NM_004370.6(COL12A1):c.4650C>G (p.His1550Gln) rs754993978
NM_004370.6(COL12A1):c.4650C>T (p.His1550=)
NM_004370.6(COL12A1):c.4656C>A (p.Leu1552=) rs2149405550
NM_004370.6(COL12A1):c.466T>G (p.Phe156Val)
NM_004370.6(COL12A1):c.4671C>T (p.Val1557=)
NM_004370.6(COL12A1):c.4674T>A (p.Thr1558=) rs1767121915
NM_004370.6(COL12A1):c.4676T>C (p.Val1559Ala) rs1562217199
NM_004370.6(COL12A1):c.4679G>A (p.Arg1560Gln)
NM_004370.6(COL12A1):c.4681G>A (p.Glu1561Lys)
NM_004370.6(COL12A1):c.4689C>T (p.Thr1563=) rs1767120492
NM_004370.6(COL12A1):c.4690+17T>C
NM_004370.6(COL12A1):c.4690+19T>C
NM_004370.6(COL12A1):c.4690+5G>A rs1767120188
NM_004370.6(COL12A1):c.4690+9C>T
NM_004370.6(COL12A1):c.4691-13C>G
NM_004370.6(COL12A1):c.4691-13C>T
NM_004370.6(COL12A1):c.4691-16T>G rs750281471
NM_004370.6(COL12A1):c.4691-20A>C
NM_004370.6(COL12A1):c.4691-8T>A
NM_004370.6(COL12A1):c.4691T>C (p.Leu1564Ser) rs1554181762
NM_004370.6(COL12A1):c.4693C>T (p.Pro1565Ser)
NM_004370.6(COL12A1):c.4697T>C (p.Leu1566Ser) rs2149402848
NM_004370.6(COL12A1):c.46C>T (p.Leu16=)
NM_004370.6(COL12A1):c.4701C>A (p.Pro1567=) rs17791238
NM_004370.6(COL12A1):c.4701C>G (p.Pro1567=) rs17791238
NM_004370.6(COL12A1):c.4702A>G (p.Arg1568Gly) rs1767009455
NM_004370.6(COL12A1):c.4705C>T (p.Pro1569Ser)
NM_004370.6(COL12A1):c.4714C>A (p.Leu1572Met)
NM_004370.6(COL12A1):c.4723A>G (p.Arg1575Gly) rs1490798316
NM_004370.6(COL12A1):c.4724G>A (p.Arg1575Lys)
NM_004370.6(COL12A1):c.475A>G (p.Ile159Val) rs548978005
NM_004370.6(COL12A1):c.4761A>G (p.Glu1587=)
NM_004370.6(COL12A1):c.4780C>T (p.Arg1594Cys)
NM_004370.6(COL12A1):c.4781G>C (p.Arg1594Pro) rs373006852
NM_004370.6(COL12A1):c.4795C>G (p.Arg1599Gly)
NM_004370.6(COL12A1):c.4806A>G (p.Thr1602=) rs1361287372
NM_004370.6(COL12A1):c.4810G>A (p.Glu1604Lys)
NM_004370.6(COL12A1):c.4827+12A>G
NM_004370.6(COL12A1):c.4827+16T>G
NM_004370.6(COL12A1):c.4827+3A>G
NM_004370.6(COL12A1):c.4828-19T>C
NM_004370.6(COL12A1):c.4828-4A>G
NM_004370.6(COL12A1):c.4828-8T>C
NM_004370.6(COL12A1):c.4839C>A (p.Asp1613Glu)
NM_004370.6(COL12A1):c.483C>T (p.Asp161=) rs1769829163
NM_004370.6(COL12A1):c.4849A>C (p.Thr1617Pro) rs750511139
NM_004370.6(COL12A1):c.4851C>G (p.Thr1617=)
NM_004370.6(COL12A1):c.4853G>T (p.Ser1618Ile) rs765702033
NM_004370.6(COL12A1):c.4859C>T (p.Ser1620Phe)
NM_004370.6(COL12A1):c.4868A>G (p.Asp1623Gly)
NM_004370.6(COL12A1):c.4883C>T (p.Thr1628Ile) rs368180489
NM_004370.6(COL12A1):c.4888T>C (p.Tyr1630His) rs759038011
NM_004370.6(COL12A1):c.488T>C (p.Ile163Thr)
NM_004370.6(COL12A1):c.4891A>T (p.Thr1631Ser) rs773883741
NM_004370.6(COL12A1):c.4898G>A (p.Ser1633Asn)
NM_004370.6(COL12A1):c.489T>C (p.Ile163=)
NM_004370.6(COL12A1):c.4913A>C (p.His1638Pro)
NM_004370.6(COL12A1):c.4918G>C (p.Glu1640Gln)
NM_004370.6(COL12A1):c.4924G>T (p.Glu1642Ter)
NM_004370.6(COL12A1):c.4929T>G (p.Ser1643=)
NM_004370.6(COL12A1):c.4930C>T (p.Pro1644Ser)
NM_004370.6(COL12A1):c.4935A>G (p.Pro1645=)
NM_004370.6(COL12A1):c.4954_4957+2dup
NM_004370.6(COL12A1):c.4956C>G (p.Thr1652=)
NM_004370.6(COL12A1):c.4957+11_4957+12inv
NM_004370.6(COL12A1):c.4958-16C>T
NM_004370.6(COL12A1):c.4958-4A>T
NM_004370.6(COL12A1):c.4958-7A>G rs1332779
NM_004370.6(COL12A1):c.4963G>T (p.Val1655Leu)
NM_004370.6(COL12A1):c.4970C>A (p.Ala1657Asp) rs1766760179
NM_004370.6(COL12A1):c.4970C>T (p.Ala1657Val)
NM_004370.6(COL12A1):c.4973dup (p.Thr1659fs)
NM_004370.6(COL12A1):c.4975A>G (p.Thr1659Ala)
NM_004370.6(COL12A1):c.4978A>C (p.Asn1660His)
NM_004370.6(COL12A1):c.4979A>T (p.Asn1660Ile)
NM_004370.6(COL12A1):c.4995A>C (p.Glu1665Asp) rs1582115930
NM_004370.6(COL12A1):c.5010T>G (p.Gly1670=)
NM_004370.6(COL12A1):c.5011T>C (p.Phe1671Leu) rs1766757762
NM_004370.6(COL12A1):c.5019del (p.Thr1674fs)
NM_004370.6(COL12A1):c.502T>G (p.Ser168Ala) rs2149475862
NM_004370.6(COL12A1):c.5035G>T (p.Ala1679Ser) rs550455854
NM_004370.6(COL12A1):c.5038T>C (p.Ser1680Pro)
NM_004370.6(COL12A1):c.5040A>G (p.Ser1680=)
NM_004370.6(COL12A1):c.5045T>C (p.Val1682Ala)
NM_004370.6(COL12A1):c.5049T>C (p.Ser1683=)
NM_004370.6(COL12A1):c.504T>G (p.Ser168=) rs371436873
NM_004370.6(COL12A1):c.5071C>A (p.Pro1691Thr)
NM_004370.6(COL12A1):c.5083T>A (p.Ser1695Thr)
NM_004370.6(COL12A1):c.5093T>C (p.Met1698Thr) rs749443694
NM_004370.6(COL12A1):c.5095G>A (p.Glu1699Lys) rs1369964113
NM_004370.6(COL12A1):c.5097+11C>A
NM_004370.6(COL12A1):c.5097+1G>A
NM_004370.6(COL12A1):c.5097+20T>G
NM_004370.6(COL12A1):c.5097+6T>A
NM_004370.6(COL12A1):c.5098-10T>C rs968352189
NM_004370.6(COL12A1):c.5098-17T>C
NM_004370.6(COL12A1):c.5098-19T>C
NM_004370.6(COL12A1):c.5109T>C (p.Asn1703=)
NM_004370.6(COL12A1):c.5111G>A (p.Gly1704Glu)
NM_004370.6(COL12A1):c.5115T>G (p.Asp1705Glu)
NM_004370.6(COL12A1):c.512A>T (p.Asp171Val) rs2149475842
NM_004370.6(COL12A1):c.5147C>T (p.Pro1716Leu)
NM_004370.6(COL12A1):c.5157C>T (p.Ile1719=) rs1766737359
NM_004370.6(COL12A1):c.5158T>A (p.Tyr1720Asn) rs1766737229
NM_004370.6(COL12A1):c.5167T>C (p.Ser1723Pro)
NM_004370.6(COL12A1):c.5173A>G (p.Thr1725Ala)
NM_004370.6(COL12A1):c.5180T>C (p.Ile1727Thr)
NM_004370.6(COL12A1):c.5194T>G (p.Ser1732Ala) rs750726658
NM_004370.6(COL12A1):c.5207A>G (p.Asp1736Gly) rs762021815
NM_004370.6(COL12A1):c.5208C>T (p.Asp1736=)
NM_004370.6(COL12A1):c.5209C>G (p.Leu1737Val) rs769221057
NM_004370.6(COL12A1):c.5215G>A (p.Gly1739Ser)
NM_004370.6(COL12A1):c.5215G>T (p.Gly1739Cys)
NM_004370.6(COL12A1):c.5224C>A (p.Arg1742Ser) rs530680231
NM_004370.6(COL12A1):c.5230+12G>A
NM_004370.6(COL12A1):c.5230+17C>T
NM_004370.6(COL12A1):c.5230+20A>C
NM_004370.6(COL12A1):c.5230C>A (p.Leu1744Met)
NM_004370.6(COL12A1):c.5231-8T>C rs1766724577
NM_004370.6(COL12A1):c.5231-9_5231-8del
NM_004370.6(COL12A1):c.5232G>A (p.Leu1744=) rs979503995
NM_004370.6(COL12A1):c.5247A>G (p.Thr1749=)
NM_004370.6(COL12A1):c.5252-11T>C
NM_004370.6(COL12A1):c.5252-14C>T
NM_004370.6(COL12A1):c.5252-7C>A
NM_004370.6(COL12A1):c.5256C>G (p.Pro1752=)
NM_004370.6(COL12A1):c.5269C>T (p.Arg1757Ter)
NM_004370.6(COL12A1):c.5270G>A (p.Arg1757Gln)
NM_004370.6(COL12A1):c.5274C>T (p.Asn1758=)
NM_004370.6(COL12A1):c.527A>G (p.Lys176Arg)
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser) rs755536829
NM_004370.6(COL12A1):c.5297C>T (p.Ser1766Phe)
NM_004370.6(COL12A1):c.529A>G (p.Thr177Ala)
NM_004370.6(COL12A1):c.5310T>C (p.Thr1770=) rs2149394288
NM_004370.6(COL12A1):c.5323C>A (p.Pro1775Thr) rs2149394273
NM_004370.6(COL12A1):c.5336G>C (p.Arg1779Pro) rs748487098
NM_004370.6(COL12A1):c.5338G>A (p.Val1780Met) rs1766678485
NM_004370.6(COL12A1):c.5342A>G (p.Gln1781Arg)
NM_004370.6(COL12A1):c.5349T>C (p.Tyr1783=)
NM_004370.6(COL12A1):c.5359T>C (p.Tyr1787His)
NM_004370.6(COL12A1):c.535G>A (p.Val179Ile)
NM_004370.6(COL12A1):c.5366C>T (p.Pro1789Leu) rs1766675850
NM_004370.6(COL12A1):c.5373A>G (p.Thr1791=)
NM_004370.6(COL12A1):c.5374G>A (p.Gly1792Arg)
NM_004370.6(COL12A1):c.5379A>G (p.Glu1793=) rs2149394158
NM_004370.6(COL12A1):c.5380G>A (p.Gly1794Ser) rs2149394149
NM_004370.6(COL12A1):c.5384A>G (p.Asn1795Ser)
NM_004370.6(COL12A1):c.5392A>T (p.Thr1798Ser)
NM_004370.6(COL12A1):c.5393C>A (p.Thr1798Lys) rs370767331
NM_004370.6(COL12A1):c.5394+10dup
NM_004370.6(COL12A1):c.5394+14A>G
NM_004370.6(COL12A1):c.5394+15A>C
NM_004370.6(COL12A1):c.5394+5T>G
NM_004370.6(COL12A1):c.5394G>A (p.Thr1798=)
NM_004370.6(COL12A1):c.5395-10T>C
NM_004370.6(COL12A1):c.5395-14C>G
NM_004370.6(COL12A1):c.5395-17G>A
NM_004370.6(COL12A1):c.5398A>G (p.Thr1800Ala)
NM_004370.6(COL12A1):c.5403A>C (p.Ile1801=) rs1470703983
NM_004370.6(COL12A1):c.5403A>G (p.Ile1801Met)
NM_004370.6(COL12A1):c.5408G>A (p.Gly1803Glu) rs754812998
NM_004370.6(COL12A1):c.5436A>G (p.Lys1812=)
NM_004370.6(COL12A1):c.5443C>T (p.Pro1815Ser)
NM_004370.6(COL12A1):c.5447A>T (p.Asp1816Val)
NM_004370.6(COL12A1):c.544G>A (p.Val182Ile) rs1769824140
NM_004370.6(COL12A1):c.5452C>A (p.Pro1818Thr)
NM_004370.6(COL12A1):c.5457C>T (p.Tyr1819=)
NM_004370.6(COL12A1):c.5458A>C (p.Thr1820Pro)
NM_004370.6(COL12A1):c.5460T>A (p.Thr1820=) rs1003584679
NM_004370.6(COL12A1):c.5461A>G (p.Ile1821Val)
NM_004370.6(COL12A1):c.5466C>G (p.Thr1822=) rs373978519
NM_004370.6(COL12A1):c.5467G>A (p.Val1823Ile) rs201408175
NM_004370.6(COL12A1):c.5467G>T (p.Val1823Leu)
NM_004370.6(COL12A1):c.546T>G (p.Val182=) rs764254293
NM_004370.6(COL12A1):c.5475T>G (p.Ser1825=) rs766269568
NM_004370.6(COL12A1):c.5486A>G (p.Asp1829Gly) rs1419443025
NM_004370.6(COL12A1):c.5499T>C (p.Gly1833=) rs1582107388
NM_004370.6(COL12A1):c.549A>G (p.Gln183=)
NM_004370.6(COL12A1):c.54del (p.Ser19fs)
NM_004370.6(COL12A1):c.5500C>G (p.Arg1834Gly) rs775456254
NM_004370.6(COL12A1):c.5500C>T (p.Arg1834Trp)
NM_004370.6(COL12A1):c.5504T>A (p.Met1835Lys) rs374927144
NM_004370.6(COL12A1):c.5514_5516dup (p.Gly1839dup) rs1766496347
NM_004370.6(COL12A1):c.5516G>T (p.Gly1839Val) rs2149389596
NM_004370.6(COL12A1):c.5519A>C (p.Lys1840Thr)
NM_004370.6(COL12A1):c.5521A>C (p.Thr1841Pro)
NM_004370.6(COL12A1):c.5523C>A (p.Thr1841=)
NM_004370.6(COL12A1):c.5524+10A>G
NM_004370.6(COL12A1):c.5524+13T>G
NM_004370.6(COL12A1):c.5525-11G>A
NM_004370.6(COL12A1):c.5525-18G>T
NM_004370.6(COL12A1):c.5525-20G>A
NM_004370.6(COL12A1):c.5525-6T>A
NM_004370.6(COL12A1):c.553A>T (p.Ser185Cys) rs1769823295
NM_004370.6(COL12A1):c.5547C>A (p.Asn1849Lys) rs1235141094
NM_004370.6(COL12A1):c.554G>A (p.Ser185Asn) rs2149475753
NM_004370.6(COL12A1):c.5554G>C (p.Val1852Leu)
NM_004370.6(COL12A1):c.5562C>A (p.Asp1854Glu) rs543663005
NM_004370.6(COL12A1):c.5571C>T (p.Thr1857=)
NM_004370.6(COL12A1):c.5572A>T (p.Ser1858Cys)
NM_004370.6(COL12A1):c.5573G>C (p.Ser1858Thr)
NM_004370.6(COL12A1):c.5574C>A (p.Ser1858Arg)
NM_004370.6(COL12A1):c.5582A>G (p.Asn1861Ser) rs1160822324
NM_004370.6(COL12A1):c.5583T>A (p.Asn1861Lys)
NM_004370.6(COL12A1):c.5588G>A (p.Arg1863His)
NM_004370.6(COL12A1):c.5588G>T (p.Arg1863Leu) rs377417661
NM_004370.6(COL12A1):c.5600C>T (p.Ala1867Val)
NM_004370.6(COL12A1):c.5603A>T (p.Glu1868Val) rs1370422060
NM_004370.6(COL12A1):c.5610T>C (p.Asn1870=) rs2149388082
NM_004370.6(COL12A1):c.5614C>G (p.Arg1872Gly) rs773807635
NM_004370.6(COL12A1):c.561T>C (p.Asp187=)
NM_004370.6(COL12A1):c.5632T>C (p.Tyr1878His)
NM_004370.6(COL12A1):c.5633A>G (p.Tyr1878Cys)
NM_004370.6(COL12A1):c.5647G>T (p.Gly1883Cys)
NM_004370.6(COL12A1):c.5656G>C (p.Glu1886Gln) rs1242897212
NM_004370.6(COL12A1):c.5659G>A (p.Glu1887Lys) rs1766437313
NM_004370.6(COL12A1):c.5662C>T (p.Leu1888=)
NM_004370.6(COL12A1):c.5664+16_5664+35del rs1333051927
NM_004370.6(COL12A1):c.5664+1G>A rs1766437216
NM_004370.6(COL12A1):c.5664+3A>G rs2149387981
NM_004370.6(COL12A1):c.5665-19G>A rs903881382
NM_004370.6(COL12A1):c.5665-4T>C
NM_004370.6(COL12A1):c.5665-6C>A
NM_004370.6(COL12A1):c.5672T>C (p.Ile1891Thr)
NM_004370.6(COL12A1):c.5677G>C (p.Gly1893Arg)
NM_004370.6(COL12A1):c.5679G>C (p.Gly1893=)
NM_004370.6(COL12A1):c.567G>A (p.Arg189=)
NM_004370.6(COL12A1):c.5681A>G (p.Asn1894Ser) rs2149387327
NM_004370.6(COL12A1):c.5692G>A (p.Ala1898Thr) rs2149387306
NM_004370.6(COL12A1):c.5694C>T (p.Ala1898=)
NM_004370.6(COL12A1):c.5713C>T (p.Pro1905Ser) rs1766408982
NM_004370.6(COL12A1):c.5723C>T (p.Ser1908Leu)
NM_004370.6(COL12A1):c.5730T>C (p.Thr1910=) rs1582103755
NM_004370.6(COL12A1):c.5736T>G (p.Thr1912=)
NM_004370.6(COL12A1):c.5737G>A (p.Val1913Ile)
NM_004370.6(COL12A1):c.5745C>A (p.Pro1915=)
NM_004370.6(COL12A1):c.5745C>T (p.Pro1915=) rs780813171
NM_004370.6(COL12A1):c.5751T>C (p.Tyr1917=)
NM_004370.6(COL12A1):c.5752A>G (p.Thr1918Ala) rs1766405494
NM_004370.6(COL12A1):c.5756A>T (p.Glu1919Val) rs2149387143
NM_004370.6(COL12A1):c.5761G>A (p.Asp1921Asn) rs1766404958
NM_004370.6(COL12A1):c.5765G>A (p.Gly1922Glu) rs1766404539
NM_004370.6(COL12A1):c.5768G>C (p.Gly1923Ala)
NM_004370.6(COL12A1):c.5790G>A (p.Arg1930=)
NM_004370.6(COL12A1):c.5790G>C (p.Arg1930Ser) rs2149387040
NM_004370.6(COL12A1):c.5793A>C (p.Thr1931=) rs199632288
NM_004370.6(COL12A1):c.5794+13G>A
NM_004370.6(COL12A1):c.5794+17A>G
NM_004370.6(COL12A1):c.5794T>C (p.Leu1932=)
NM_004370.6(COL12A1):c.5795-16G>A
NM_004370.6(COL12A1):c.5795-2A>C
NM_004370.6(COL12A1):c.5800A>G (p.Arg1934Gly) rs1474687066
NM_004370.6(COL12A1):c.5809G>A (p.Ala1937Thr) rs1562184031
NM_004370.6(COL12A1):c.580T>C (p.Leu194=) rs2149475695
NM_004370.6(COL12A1):c.5817T>C (p.Asn1939=)
NM_004370.6(COL12A1):c.5823del (p.Val1942fs)
NM_004370.6(COL12A1):c.5826A>G (p.Val1942=)
NM_004370.6(COL12A1):c.5827T>C (p.Tyr1943His)
NM_004370.6(COL12A1):c.5837C>T (p.Thr1946Ile) rs2149385416
NM_004370.6(COL12A1):c.5839C>T (p.Pro1947Ser) rs191233787
NM_004370.6(COL12A1):c.5840C>T (p.Pro1947Leu) rs768626277
NM_004370.6(COL12A1):c.5846G>A (p.Ser1949Asn)
NM_004370.6(COL12A1):c.5851G>A (p.Asp1951Asn) rs771175230
NM_004370.6(COL12A1):c.5855T>G (p.Val1952Gly) rs1766324604
NM_004370.6(COL12A1):c.5858G>A (p.Arg1953His)
NM_004370.6(COL12A1):c.5858G>T (p.Arg1953Leu)
NM_004370.6(COL12A1):c.5863G>A (p.Asp1955Asn) rs2149385355
NM_004370.6(COL12A1):c.5863G>T (p.Asp1955Tyr) rs2149385355
NM_004370.6(COL12A1):c.5865C>G (p.Asp1955Glu)
NM_004370.6(COL12A1):c.5869G>A (p.Ala1957Thr)
NM_004370.6(COL12A1):c.5871T>G (p.Ala1957=) rs594012
NM_004370.6(COL12A1):c.5881G>A (p.Val1961Met) rs536233725
NM_004370.6(COL12A1):c.5885T>C (p.Leu1962Pro)
NM_004370.6(COL12A1):c.588G>T (p.Gln196His)
NM_004370.6(COL12A1):c.5891A>G (p.Tyr1964Cys) rs920578725
NM_004370.6(COL12A1):c.5893C>A (p.Arg1965Ser) rs200487396
NM_004370.6(COL12A1):c.5894G>A (p.Arg1965His)
NM_004370.6(COL12A1):c.5899G>A (p.Val1967Met)
NM_004370.6(COL12A1):c.5900T>A (p.Val1967Glu)
NM_004370.6(COL12A1):c.5903A>G (p.Tyr1968Cys)
NM_004370.6(COL12A1):c.5905T>C (p.Ser1969Pro) rs2149385256
NM_004370.6(COL12A1):c.5912T>C (p.Val1971Ala)
NM_004370.6(COL12A1):c.5934A>T (p.Glu1978Asp)
NM_004370.6(COL12A1):c.5937+14T>A rs2149385207
NM_004370.6(COL12A1):c.5937+17T>C rs1023564287
NM_004370.6(COL12A1):c.5938-9C>G
NM_004370.6(COL12A1):c.5938-9C>T rs1166562974
NM_004370.6(COL12A1):c.5939T>A (p.Ile1980Lys)
NM_004370.6(COL12A1):c.5940AGT[1] (p.Val1982del) rs1766274789
NM_004370.6(COL12A1):c.5943A>G (p.Val1981=)
NM_004370.6(COL12A1):c.5949A>C (p.Pro1983=) rs770005423
NM_004370.6(COL12A1):c.5953A>G (p.Asn1985Asp)
NM_004370.6(COL12A1):c.5954A>G (p.Asn1985Ser) rs373170333
NM_004370.6(COL12A1):c.5960G>A (p.Arg1987His)
NM_004370.6(COL12A1):c.5965G>A (p.Val1989Met)
NM_004370.6(COL12A1):c.5967G>A (p.Val1989=)
NM_004370.6(COL12A1):c.5970T>C (p.His1990=)
NM_004370.6(COL12A1):c.5982G>A (p.Leu1994=)
NM_004370.6(COL12A1):c.5988G>A (p.Pro1996=)
NM_004370.6(COL12A1):c.598A>G (p.Arg200Gly)
NM_004370.6(COL12A1):c.5992A>G (p.Thr1998Ala)
NM_004370.6(COL12A1):c.5994A>G (p.Thr1998=)
NM_004370.6(COL12A1):c.5997C>G (p.Leu1999=) rs111547439
NM_004370.6(COL12A1):c.5999A>G (p.Tyr2000Cys) rs1400789071
NM_004370.6(COL12A1):c.5G>A (p.Arg2Gln) rs1265886692
NM_004370.6(COL12A1):c.5G>C (p.Arg2Pro)
NM_004370.6(COL12A1):c.6002C>G (p.Ser2001Cys) rs1766270191
NM_004370.6(COL12A1):c.600G>A (p.Arg200=) rs2149475654
NM_004370.6(COL12A1):c.6010C>T (p.Leu2004Phe)
NM_004370.6(COL12A1):c.6027G>A (p.Ser2009=)
NM_004370.6(COL12A1):c.602A>G (p.Asp201Gly)
NM_004370.6(COL12A1):c.602A>T (p.Asp201Val)
NM_004370.6(COL12A1):c.6030T>G (p.Asp2010Glu) rs1013402934
NM_004370.6(COL12A1):c.6054C>T (p.Ala2018=)
NM_004370.6(COL12A1):c.6060C>T (p.Gly2020=)
NM_004370.6(COL12A1):c.6061C>T (p.Arg2021Ter)
NM_004370.6(COL12A1):c.6064A>T (p.Thr2022Ser) rs780638272
NM_004370.6(COL12A1):c.6065C>T (p.Thr2022Met) rs1766265495
NM_004370.6(COL12A1):c.6067+12A>G
NM_004370.6(COL12A1):c.6067+19C>A
NM_004370.6(COL12A1):c.6067+1G>A rs1766265062
NM_004370.6(COL12A1):c.6068-15A>G
NM_004370.6(COL12A1):c.6068-16T>C
NM_004370.6(COL12A1):c.6068-20A>G
NM_004370.6(COL12A1):c.6074G>T (p.Arg2025Leu)
NM_004370.6(COL12A1):c.6084A>C (p.Pro2028=)
NM_004370.6(COL12A1):c.6093G>C (p.Leu2031=) rs909100621
NM_004370.6(COL12A1):c.6094A>T (p.Arg2032Ter)
NM_004370.6(COL12A1):c.6108A>C (p.Glu2036Asp)
NM_004370.6(COL12A1):c.6124T>A (p.Ser2042Thr)
NM_004370.6(COL12A1):c.6125C>A (p.Ser2042Ter) rs767845062
NM_004370.6(COL12A1):c.6125C>T (p.Ser2042Leu)
NM_004370.6(COL12A1):c.6126G>A (p.Ser2042=)
NM_004370.6(COL12A1):c.6128T>C (p.Val2043Ala)
NM_004370.6(COL12A1):c.6140A>G (p.His2047Arg) rs569212577
NM_004370.6(COL12A1):c.6144T>A (p.Ala2048=)
NM_004370.6(COL12A1):c.6147T>G (p.Asp2049Glu) rs200777154
NM_004370.6(COL12A1):c.614C>T (p.Ala205Val)
NM_004370.6(COL12A1):c.6158A>G (p.Gln2053Arg)
NM_004370.6(COL12A1):c.6165C>A (p.Tyr2055Ter)
NM_004370.6(COL12A1):c.6171C>T (p.Ile2057=)
NM_004370.6(COL12A1):c.6188T>C (p.Val2063Ala)
NM_004370.6(COL12A1):c.6196C>A (p.Pro2066Thr) rs1766227819
NM_004370.6(COL12A1):c.6210+10A>T
NM_004370.6(COL12A1):c.6210+16A>G
NM_004370.6(COL12A1):c.6210+17T>C
NM_004370.6(COL12A1):c.6210+20A>T rs377223538
NM_004370.6(COL12A1):c.6211-10T>A
NM_004370.6(COL12A1):c.6211-19A>C
NM_004370.6(COL12A1):c.6211-6C>G
NM_004370.6(COL12A1):c.6221C>G (p.Pro2074Arg)
NM_004370.6(COL12A1):c.6223G>A (p.Gly2075Ser) rs1253942397
NM_004370.6(COL12A1):c.6230G>A (p.Arg2077Lys) rs769518059
NM_004370.6(COL12A1):c.6231A>C (p.Arg2077Ser)
NM_004370.6(COL12A1):c.623A>G (p.Lys208Arg) rs2149475605
NM_004370.6(COL12A1):c.6243A>G (p.Ile2081Met) rs1766123299
NM_004370.6(COL12A1):c.6244C>T (p.Leu2082=)
NM_004370.6(COL12A1):c.6246G>T (p.Leu2082=)
NM_004370.6(COL12A1):c.6254T>C (p.Leu2085Pro)
NM_004370.6(COL12A1):c.6266C>T (p.Thr2089Ile)
NM_004370.6(COL12A1):c.6276A>C (p.Lys2092Asn) rs1403624483
NM_004370.6(COL12A1):c.6276A>G (p.Lys2092=)
NM_004370.6(COL12A1):c.629T>C (p.Ile210Thr)
NM_004370.6(COL12A1):c.6309T>C (p.Asp2103=) rs2149379927
NM_004370.6(COL12A1):c.6312T>C (p.Gly2104=)
NM_004370.6(COL12A1):c.6318T>C (p.His2106=)
NM_004370.6(COL12A1):c.6325G>A (p.Gly2109Arg) rs1766116749
NM_004370.6(COL12A1):c.6330T>G (p.Asn2110Lys)
NM_004370.6(COL12A1):c.6338C>T (p.Thr2113Ile)
NM_004370.6(COL12A1):c.6339T>C (p.Thr2113=) rs1766115548
NM_004370.6(COL12A1):c.6340+12G>C
NM_004370.6(COL12A1):c.6340+14A>G
NM_004370.6(COL12A1):c.6341-9T>A rs1562169801
NM_004370.6(COL12A1):c.6343G>A (p.Gly2115Arg) rs1766019017
NM_004370.6(COL12A1):c.634T>C (p.Tyr212His) rs1424010902
NM_004370.6(COL12A1):c.6378C>T (p.Asp2126=) rs371734128
NM_004370.6(COL12A1):c.637A>G (p.Lys213Glu) rs1769818108
NM_004370.6(COL12A1):c.6382T>C (p.Trp2128Arg)
NM_004370.6(COL12A1):c.6386A>G (p.Tyr2129Cys) rs1402262599
NM_004370.6(COL12A1):c.6389C>G (p.Thr2130Arg)
NM_004370.6(COL12A1):c.6409G>C (p.Asp2137His)
NM_004370.6(COL12A1):c.641G>T (p.Gly214Val) rs1582209053
NM_004370.6(COL12A1):c.6424C>A (p.Pro2142Thr) rs1766015017
NM_004370.6(COL12A1):c.6435A>T (p.Gly2145=) rs757397618
NM_004370.6(COL12A1):c.6445G>T (p.Val2149Leu) rs1277921609
NM_004370.6(COL12A1):c.6449A>G (p.Tyr2150Cys) rs1469571574
NM_004370.6(COL12A1):c.644G>A (p.Gly215Asp)
NM_004370.6(COL12A1):c.6458T>C (p.Val2153Ala)
NM_004370.6(COL12A1):c.6460+10_6460+11dup rs2149377067
NM_004370.6(COL12A1):c.6460+6G>A
NM_004370.6(COL12A1):c.6463T>A (p.Ser2155Thr)
NM_004370.6(COL12A1):c.6467A>G (p.Asn2156Ser) rs1582089703
NM_004370.6(COL12A1):c.6475A>T (p.Met2159Leu) rs1582089675
NM_004370.6(COL12A1):c.6476T>C (p.Met2159Thr) rs920759306
NM_004370.6(COL12A1):c.647A>G (p.Asn216Ser) rs2149475535
NM_004370.6(COL12A1):c.6494A>G (p.Glu2165Gly)
NM_004370.6(COL12A1):c.6500C>A (p.Thr2167Lys) rs2149375589
NM_004370.6(COL12A1):c.6501A>T (p.Thr2167=)
NM_004370.6(COL12A1):c.6518A>G (p.Asn2173Ser)
NM_004370.6(COL12A1):c.652A>G (p.Met218Val) rs2149475531
NM_004370.6(COL12A1):c.653T>G (p.Met218Arg) rs756215547
NM_004370.6(COL12A1):c.6541G>T (p.Asp2181Tyr)
NM_004370.6(COL12A1):c.6550G>A (p.Val2184Ile)
NM_004370.6(COL12A1):c.6558T>A (p.Ala2186=) rs1486712607
NM_004370.6(COL12A1):c.6559C>A (p.Gln2187Lys)
NM_004370.6(COL12A1):c.6574C>T (p.Leu2192Phe) rs1765951451
NM_004370.6(COL12A1):c.658+10A>G rs2149475491
NM_004370.6(COL12A1):c.658+13G>A
NM_004370.6(COL12A1):c.658+13G>T
NM_004370.6(COL12A1):c.658+6T>C
NM_004370.6(COL12A1):c.6584C>G (p.Pro2195Arg)
NM_004370.6(COL12A1):c.659-8C>T
NM_004370.6(COL12A1):c.6607+14A>T
NM_004370.6(COL12A1):c.6607+16T>A
NM_004370.6(COL12A1):c.6607+7C>T
NM_004370.6(COL12A1):c.6608-19T>C rs2149374329
NM_004370.6(COL12A1):c.6609A>G (p.Leu2203=)
NM_004370.6(COL12A1):c.6611A>G (p.Tyr2204Cys)
NM_004370.6(COL12A1):c.6612T>A (p.Tyr2204Ter) rs1765909471
NM_004370.6(COL12A1):c.6624A>G (p.Thr2208=)
NM_004370.6(COL12A1):c.6635C>T (p.Thr2212Ile)
NM_004370.6(COL12A1):c.6639C>T (p.Tyr2213=)
NM_004370.6(COL12A1):c.6640C>G (p.Gln2214Glu) rs773548520
NM_004370.6(COL12A1):c.6642G>C (p.Gln2214His)
NM_004370.6(COL12A1):c.6647G>A (p.Gly2216Glu) rs761964344
NM_004370.6(COL12A1):c.6660C>G (p.Phe2220Leu) rs1562164671
NM_004370.6(COL12A1):c.6662G>C (p.Cys2221Ser) rs2149374223
NM_004370.6(COL12A1):c.6682C>T (p.Arg2228Trp) rs759202641
NM_004370.6(COL12A1):c.6683G>A (p.Arg2228Gln) rs1253362145
NM_004370.6(COL12A1):c.6692C>T (p.Thr2231Ile) rs1257364285
NM_004370.6(COL12A1):c.6695C>T (p.Ser2232Phe) rs1765905733
NM_004370.6(COL12A1):c.6711A>C (p.Leu2237=) rs2149374132
NM_004370.6(COL12A1):c.6720A>T (p.Ala2240=)
NM_004370.6(COL12A1):c.6724+11A>G rs1398653047
NM_004370.6(COL12A1):c.6724+1G>C
NM_004370.6(COL12A1):c.6724+6T>C
NM_004370.6(COL12A1):c.6725-14G>A
NM_004370.6(COL12A1):c.6725-16T>C
NM_004370.6(COL12A1):c.6725-18C>A
NM_004370.6(COL12A1):c.6725-6_6725-4del rs2149373848
NM_004370.6(COL12A1):c.6726A>T (p.Gly2242=)
NM_004370.6(COL12A1):c.6728C>A (p.Thr2243Lys)
NM_004370.6(COL12A1):c.6728C>T (p.Thr2243Ile) rs746250737
NM_004370.6(COL12A1):c.6729A>C (p.Thr2243=) rs1765889227
NM_004370.6(COL12A1):c.6733G>A (p.Gly2245Arg) rs2149373796
NM_004370.6(COL12A1):c.6737_6812del (p.Gln2246fs) rs2149373593
NM_004370.6(COL12A1):c.673T>G (p.Tyr225Asp)
NM_004370.6(COL12A1):c.6749T>G (p.Val2250Gly)
NM_004370.6(COL12A1):c.6751C>T (p.Arg2251Cys) rs754290184
NM_004370.6(COL12A1):c.6756A>G (p.Gly2252=) rs2149373749
NM_004370.6(COL12A1):c.6759A>T (p.Ser2253=) rs1765886657
NM_004370.6(COL12A1):c.6764C>T (p.Thr2255Ile)
NM_004370.6(COL12A1):c.6769C>T (p.His2257Tyr) rs2149373719
NM_004370.6(COL12A1):c.6771C>G (p.His2257Gln)
NM_004370.6(COL12A1):c.6778A>G (p.Thr2260Ala) rs1765885022
NM_004370.6(COL12A1):c.6790C>T (p.Pro2264Ser)
NM_004370.6(COL12A1):c.6794A>G (p.Asp2265Gly)
NM_004370.6(COL12A1):c.6808G>C (p.Val2270Leu) rs1765882595
NM_004370.6(COL12A1):c.6809T>C (p.Val2270Ala)
NM_004370.6(COL12A1):c.6815T>C (p.Val2272Ala)
NM_004370.6(COL12A1):c.6819del (p.Phe2273fs) rs1765881602
NM_004370.6(COL12A1):c.6839A>G (p.Glu2280Gly)
NM_004370.6(COL12A1):c.6862G>A (p.Glu2288Lys)
NM_004370.6(COL12A1):c.6866A>G (p.His2289Arg)
NM_004370.6(COL12A1):c.6867T>G (p.His2289Gln)
NM_004370.6(COL12A1):c.6869C>A (p.Thr2290Asn)
NM_004370.6(COL12A1):c.6871+14G>A
NM_004370.6(COL12A1):c.6871+20G>T
NM_004370.6(COL12A1):c.6871A>C (p.Thr2291Pro)
NM_004370.6(COL12A1):c.6872-14T>C
NM_004370.6(COL12A1):c.6872-15A>G
NM_004370.6(COL12A1):c.6872-2A>G rs2149372690
NM_004370.6(COL12A1):c.6889G>A (p.Ala2297Thr) rs1562162215
NM_004370.6(COL12A1):c.6898G>A (p.Glu2300Lys) rs2149372645
NM_004370.6(COL12A1):c.6900G>A (p.Glu2300=) rs1194108575
NM_004370.6(COL12A1):c.6908C>G (p.Thr2303Arg) rs780038146
NM_004370.6(COL12A1):c.6910C>A (p.Pro2304Thr) rs747966606
NM_004370.6(COL12A1):c.6911C>T (p.Pro2304Leu)
NM_004370.6(COL12A1):c.6912TCC[1] (p.Pro2308del) rs745810321
NM_004370.6(COL12A1):c.6914C>T (p.Pro2305Leu) rs1765844509
NM_004370.6(COL12A1):c.6916C>T (p.Pro2306Ser) rs1554171436
NM_004370.6(COL12A1):c.6917C>G (p.Pro2306Arg) rs1302398240
NM_004370.6(COL12A1):c.6946+5G>A rs1582086058
NM_004370.6(COL12A1):c.6946+7_6946+8delinsGA rs2149372484
NM_004370.6(COL12A1):c.6946G>C (p.Val2316Leu) rs1765839616
NM_004370.6(COL12A1):c.6947-12C>T
NM_004370.6(COL12A1):c.6947-5T>C
NM_004370.6(COL12A1):c.6947-6T>G rs200538799
NM_004370.6(COL12A1):c.695C>G (p.Thr232Arg) rs200443479
NM_004370.6(COL12A1):c.6961A>G (p.Lys2321Glu) rs1765724096
NM_004370.6(COL12A1):c.6966A>G (p.Ala2322=) rs1364212431
NM_004370.6(COL12A1):c.6983C>T (p.Thr2328Ile)
NM_004370.6(COL12A1):c.6985G>C (p.Asp2329His) rs1765722908
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr) rs796052093
NM_004370.6(COL12A1):c.7006G>T (p.Asp2336Tyr) rs1400495680
NM_004370.6(COL12A1):c.7011T>C (p.Asp2337=) rs2149369622
NM_004370.6(COL12A1):c.7015T>C (p.Phe2339Leu)
NM_004370.6(COL12A1):c.7017T>C (p.Phe2339=)
NM_004370.6(COL12A1):c.7018A>G (p.Asn2340Asp)
NM_004370.6(COL12A1):c.7021A>G (p.Lys2341Glu)
NM_004370.6(COL12A1):c.7025T>C (p.Val2342Ala) rs778958906
NM_004370.6(COL12A1):c.7027G>A (p.Val2343Ile)
NM_004370.6(COL12A1):c.702T>C (p.Ser234=)
NM_004370.6(COL12A1):c.7038C>T (p.Ile2346=) rs2149369561
NM_004370.6(COL12A1):c.703G>T (p.Ala235Ser)
NM_004370.6(COL12A1):c.7045A>G (p.Thr2349Ala) rs1765717648
NM_004370.6(COL12A1):c.7046C>T (p.Thr2349Ile) rs1231345150
NM_004370.6(COL12A1):c.704C>T (p.Ala235Val)
NM_004370.6(COL12A1):c.7065A>C (p.Glu2355Asp) rs1055080261
NM_004370.6(COL12A1):c.7065A>G (p.Glu2355=) rs1055080261
NM_004370.6(COL12A1):c.7085del (p.Gln2362fs) rs2149369481
NM_004370.6(COL12A1):c.7086+10del
NM_004370.6(COL12A1):c.7086+15G>A
NM_004370.6(COL12A1):c.7086+20T>A
NM_004370.6(COL12A1):c.7086+4A>G
NM_004370.6(COL12A1):c.7087-11T>A rs2149366872
NM_004370.6(COL12A1):c.7087-16del
NM_004370.6(COL12A1):c.7087-20C>T
NM_004370.6(COL12A1):c.7087-3C>T rs1769248501
NM_004370.6(COL12A1):c.7087-5T>G rs1410734553
NM_004370.6(COL12A1):c.7087-6C>T
NM_004370.6(COL12A1):c.7087-8T>C
NM_004370.6(COL12A1):c.7087G>A (p.Val2363Ile)
NM_004370.6(COL12A1):c.7124A>T (p.Glu2375Val) rs2149366807
NM_004370.6(COL12A1):c.7137C>T (p.Asn2379=) rs2149366781
NM_004370.6(COL12A1):c.7138A>G (p.Thr2380Ala)
NM_004370.6(COL12A1):c.7139C>T (p.Thr2380Met)
NM_004370.6(COL12A1):c.713G>C (p.Arg238Thr) rs1554188387
NM_004370.6(COL12A1):c.7143C>T (p.Tyr2381=) rs2149366759
NM_004370.6(COL12A1):c.7146T>C (p.Asn2382=) rs2149366746
NM_004370.6(COL12A1):c.7161C>A (p.Ala2387=) rs2149366727
NM_004370.6(COL12A1):c.7175A>G (p.Gln2392Arg)
NM_004370.6(COL12A1):c.7184G>A (p.Arg2395Lys)
NM_004370.6(COL12A1):c.7189A>C (p.Arg2397=)
NM_004370.6(COL12A1):c.7191A>T (p.Arg2397Ser) rs2149366659
NM_004370.6(COL12A1):c.7200C>T (p.Asn2400=)
NM_004370.6(COL12A1):c.7201A>C (p.Thr2401Pro) rs1769243797
NM_004370.6(COL12A1):c.7202C>G (p.Thr2401Arg)
NM_004370.6(COL12A1):c.7210+19C>G rs747884107
NM_004370.6(COL12A1):c.7210+3dup
NM_004370.6(COL12A1):c.7210+7G>A
NM_004370.6(COL12A1):c.7211-11A>G
NM_004370.6(COL12A1):c.7211-16A>G
NM_004370.6(COL12A1):c.7211-19T>C
NM_004370.6(COL12A1):c.7215G>C (p.Lys2405Asn) rs568748031
NM_004370.6(COL12A1):c.7216G>A (p.Ala2406Thr)
NM_004370.6(COL12A1):c.7223C>G (p.Thr2408Arg) rs141593495
NM_004370.6(COL12A1):c.7229T>C (p.Ile2410Thr) rs1769231502
NM_004370.6(COL12A1):c.7230C>T (p.Ile2410=) rs2149366384
NM_004370.6(COL12A1):c.7232A>G (p.Lys2411Arg)
NM_004370.6(COL12A1):c.7240G>T (p.Val2414Phe) rs2149366348
NM_004370.6(COL12A1):c.7255A>G (p.Ser2419Gly)
NM_004370.6(COL12A1):c.7258G>A (p.Gly2420Ser) rs1290886066
NM_004370.6(COL12A1):c.7261A>G (p.Met2421Val) rs910431488
NM_004370.6(COL12A1):c.7264A>G (p.Arg2422Gly) rs1769229174
NM_004370.6(COL12A1):c.7270A>C (p.Asn2424His) rs1769228699
NM_004370.6(COL12A1):c.7272T>C (p.Asn2424=)
NM_004370.6(COL12A1):c.7282G>T (p.Val2428Leu)
NM_004370.6(COL12A1):c.7288G>T (p.Val2430Phe)
NM_004370.6(COL12A1):c.7292T>C (p.Val2431Ala) rs1769227311
NM_004370.6(COL12A1):c.7298C>T (p.Thr2433Met) rs1769226903
NM_004370.6(COL12A1):c.7299G>A (p.Thr2433=) rs35551395
NM_004370.6(COL12A1):c.7299G>T (p.Thr2433=) rs35551395
NM_004370.6(COL12A1):c.73+16C>T
NM_004370.6(COL12A1):c.73+19C>T
NM_004370.6(COL12A1):c.73+1G>A
NM_004370.6(COL12A1):c.73+8G>A
NM_004370.6(COL12A1):c.7303G>A (p.Gly2435Ser) rs2149366214
NM_004370.6(COL12A1):c.7317T>C (p.Asp2439=) rs2149366203
NM_004370.6(COL12A1):c.7326G>A (p.Lys2442=)
NM_004370.6(COL12A1):c.7333G>A (p.Ala2445Thr)
NM_004370.6(COL12A1):c.7344C>T (p.Ile2448=)
NM_004370.6(COL12A1):c.7348C>T (p.Gln2450Ter)
NM_004370.6(COL12A1):c.7355-11C>T
NM_004370.6(COL12A1):c.7355-17T>C
NM_004370.6(COL12A1):c.7355-18A>C
NM_004370.6(COL12A1):c.7355-19T>G
NM_004370.6(COL12A1):c.7355-4G>T rs2149363736
NM_004370.6(COL12A1):c.7355G>T (p.Gly2452Val) rs1224729276
NM_004370.6(COL12A1):c.7359C>T (p.Phe2453=)
NM_004370.6(COL12A1):c.7360A>C (p.Ser2454Arg)
NM_004370.6(COL12A1):c.7365C>T (p.Val2455=)
NM_004370.6(COL12A1):c.7369G>A (p.Val2457Ile) rs2149363695
NM_004370.6(COL12A1):c.7373T>C (p.Val2458Ala)
NM_004370.6(COL12A1):c.7377del (p.Val2460fs)
NM_004370.6(COL12A1):c.7389C>T (p.Val2463=)
NM_004370.6(COL12A1):c.7395C>T (p.Tyr2465=)
NM_004370.6(COL12A1):c.7397A>G (p.Asn2466Ser)
NM_004370.6(COL12A1):c.739A>C (p.Ile247Leu)
NM_004370.6(COL12A1):c.74-15CT[3] rs756206757
NM_004370.6(COL12A1):c.74-18A>G rs2149482912
NM_004370.6(COL12A1):c.74-2A>T
NM_004370.6(COL12A1):c.7401G>A (p.Glu2467=)
NM_004370.6(COL12A1):c.7406C>T (p.Ala2469Val)
NM_004370.6(COL12A1):c.7444A>G (p.Ile2482Val) rs1769138600
NM_004370.6(COL12A1):c.7445T>C (p.Ile2482Thr)
NM_004370.6(COL12A1):c.7446T>G (p.Ile2482Met)
NM_004370.6(COL12A1):c.7454A>T (p.Asp2485Val)
NM_004370.6(COL12A1):c.7460A>C (p.Glu2487Ala) rs1769137471
NM_004370.6(COL12A1):c.7462T>A (p.Ser2488Thr)
NM_004370.6(COL12A1):c.7482C>G (p.Asp2494Glu)
NM_004370.6(COL12A1):c.7488T>G (p.Leu2496=) rs2149363505
NM_004370.6(COL12A1):c.7489A>G (p.Ile2497Val)
NM_004370.6(COL12A1):c.748G>A (p.Asp250Asn)
NM_004370.6(COL12A1):c.7493C>A (p.Thr2498Lys)
NM_004370.6(COL12A1):c.7497T>G (p.Phe2499Leu) rs1470111741
NM_004370.6(COL12A1):c.7519+17A>G rs2149363447
NM_004370.6(COL12A1):c.7519+18T>A
NM_004370.6(COL12A1):c.7519+6T>C rs2149363457
NM_004370.6(COL12A1):c.7520-11G>A
NM_004370.6(COL12A1):c.7520-4G>A
NM_004370.6(COL12A1):c.7525C>G (p.Pro2509Ala)
NM_004370.6(COL12A1):c.7546T>C (p.Tyr2516His)
NM_004370.6(COL12A1):c.7550C>G (p.Thr2517Ser) rs1468041100
NM_004370.6(COL12A1):c.7558+17T>C rs1323169221
NM_004370.6(COL12A1):c.7558+5G>A
NM_004370.6(COL12A1):c.7559-6G>A
NM_004370.6(COL12A1):c.7560T>C (p.Gly2520=) rs2149361484
NM_004370.6(COL12A1):c.756dup (p.Ser253fs) rs1582208315
NM_004370.6(COL12A1):c.7576_7577delinsTT (p.Ala2526Leu) rs1769053374
NM_004370.6(COL12A1):c.7583A>G (p.Asn2528Ser) rs1168175119
NM_004370.6(COL12A1):c.7584C>G (p.Asn2528Lys) rs2149361441
NM_004370.6(COL12A1):c.7594A>G (p.Lys2532Glu)
NM_004370.6(COL12A1):c.7596G>C (p.Lys2532Asn)
NM_004370.6(COL12A1):c.7601T>C (p.Phe2534Ser) rs1769052516
NM_004370.6(COL12A1):c.7603G>T (p.Ala2535Ser)
NM_004370.6(COL12A1):c.7608T>G (p.Ser2536=) rs778124838
NM_004370.6(COL12A1):c.7613A>C (p.Gln2538Pro)
NM_004370.6(COL12A1):c.7615G>A (p.Gly2539Arg)
NM_004370.6(COL12A1):c.7617A>G (p.Gly2539=) rs2149361397
NM_004370.6(COL12A1):c.7619T>C (p.Val2540Ala) rs942074618
NM_004370.6(COL12A1):c.7620A>T (p.Val2540=)
NM_004370.6(COL12A1):c.7633G>T (p.Gly2545Trp)
NM_004370.6(COL12A1):c.7637del (p.Ser2546fs)
NM_004370.6(COL12A1):c.765T>C (p.Asp255=) rs2149475018
NM_004370.6(COL12A1):c.7660A>G (p.Arg2554Gly)
NM_004370.6(COL12A1):c.7660A>T (p.Arg2554Trp) rs1302611725
NM_004370.6(COL12A1):c.7674T>C (p.Asn2558=)
NM_004370.6(COL12A1):c.7693A>G (p.Thr2565Ala)
NM_004370.6(COL12A1):c.7697+18_7697+20del
NM_004370.6(COL12A1):c.7697+19G>A
NM_004370.6(COL12A1):c.7697+1G>C
NM_004370.6(COL12A1):c.7698-10T>C
NM_004370.6(COL12A1):c.7698-14G>T
NM_004370.6(COL12A1):c.7698-18_7698-15del
NM_004370.6(COL12A1):c.7698-19_7698-15del rs141102808
NM_004370.6(COL12A1):c.7698-6C>T rs1582070030
NM_004370.6(COL12A1):c.7701C>T (p.Asp2567=) rs772064054
NM_004370.6(COL12A1):c.7702C>T (p.Leu2568=) rs745685013
NM_004370.6(COL12A1):c.7711A>C (p.Asn2571His) rs1364305836
NM_004370.6(COL12A1):c.7712A>G (p.Asn2571Ser)
NM_004370.6(COL12A1):c.7714G>A (p.Gly2572Arg)
NM_004370.6(COL12A1):c.7718T>A (p.Leu2573His)
NM_004370.6(COL12A1):c.7724C>A (p.Pro2575His) rs1768945805
NM_004370.6(COL12A1):c.772G>A (p.Glu258Lys) rs1312651383
NM_004370.6(COL12A1):c.772G>C (p.Glu258Gln)
NM_004370.6(COL12A1):c.7733C>T (p.Thr2578Met)
NM_004370.6(COL12A1):c.7738A>C (p.Ile2580Leu)
NM_004370.6(COL12A1):c.7740A>G (p.Ile2580Met)
NM_004370.6(COL12A1):c.7743A>G (p.Leu2581=)
NM_004370.6(COL12A1):c.7756C>G (p.Leu2586Val) rs375113182
NM_004370.6(COL12A1):c.7761A>G (p.Pro2587=) rs1768943747
NM_004370.6(COL12A1):c.7763A>C (p.Glu2588Ala) rs1768943469
NM_004370.6(COL12A1):c.7783G>C (p.Ala2595Pro)
NM_004370.6(COL12A1):c.7817C>G (p.Pro2606Arg)
NM_004370.6(COL12A1):c.7817C>T (p.Pro2606Leu)
NM_004370.6(COL12A1):c.7819C>G (p.Gln2607Glu) rs1428757896
NM_004370.6(COL12A1):c.7840+1G>A rs875989819
NM_004370.6(COL12A1):c.7840+9T>G rs774128333
NM_004370.6(COL12A1):c.7841-18C>T
NM_004370.6(COL12A1):c.7841-3C>T
NM_004370.6(COL12A1):c.7841-4A>G
NM_004370.6(COL12A1):c.7841C>T (p.Pro2614Leu) rs1194345062
NM_004370.6(COL12A1):c.784A>G (p.Arg262Gly)
NM_004370.6(COL12A1):c.7854G>A (p.Thr2618=) rs190984968
NM_004370.6(COL12A1):c.785G>A (p.Arg262Lys) rs1554188366
NM_004370.6(COL12A1):c.7865T>C (p.Phe2622Ser)
NM_004370.6(COL12A1):c.7867A>T (p.Asn2623Tyr)
NM_004370.6(COL12A1):c.7869C>T (p.Asn2623=) rs201337277
NM_004370.6(COL12A1):c.7883G>A (p.Gly2628Asp)
NM_004370.6(COL12A1):c.7883G>C (p.Gly2628Ala) rs1582069073
NM_004370.6(COL12A1):c.7888G>A (p.Val2630Met)
NM_004370.6(COL12A1):c.7893A>G (p.Gln2631=) rs1015843320
NM_004370.6(COL12A1):c.789G>A (p.Glu263=) rs2149474985
NM_004370.6(COL12A1):c.78C>A (p.Asp26Glu) rs2149482865
NM_004370.6(COL12A1):c.7905T>A (p.Phe2635Leu)
NM_004370.6(COL12A1):c.7913AAG[1] (p.Glu2639del) rs1238774939
NM_004370.6(COL12A1):c.7925C>G (p.Thr2642Arg)
NM_004370.6(COL12A1):c.7925_7926del (p.Thr2642fs) rs1582068925
NM_004370.6(COL12A1):c.7944T>C (p.Phe2648=)
NM_004370.6(COL12A1):c.7950+10_7950+11del rs762026995
NM_004370.6(COL12A1):c.7950+5A>T rs771300269
NM_004370.6(COL12A1):c.7951-14_7951-13del rs745783404
NM_004370.6(COL12A1):c.7951G>A (p.Val2651Ile)
NM_004370.6(COL12A1):c.7951G>T (p.Val2651Phe) rs1347122880
NM_004370.6(COL12A1):c.7954C>T (p.His2652Tyr)
NM_004370.6(COL12A1):c.7970C>T (p.Ser2657Leu)
NM_004370.6(COL12A1):c.7980T>C (p.Val2660=)
NM_004370.6(COL12A1):c.7981A>C (p.Lys2661Gln) rs1768709126
NM_004370.6(COL12A1):c.7999T>C (p.Tyr2667His) rs1324430356
NM_004370.6(COL12A1):c.7A>T (p.Ser3Cys) rs1770598850
NM_004370.6(COL12A1):c.8008A>G (p.Ile2670Val)
NM_004370.6(COL12A1):c.8019C>T (p.Asp2673=)
NM_004370.6(COL12A1):c.8022C>G (p.Ile2674Met) rs536679905
NM_004370.6(COL12A1):c.8025G>A (p.Lys2675=) rs2149353076
NM_004370.6(COL12A1):c.8033G>A (p.Gly2678Glu)
NM_004370.6(COL12A1):c.8040A>G (p.Ile2680Met) rs1167733175
NM_004370.6(COL12A1):c.8051G>A (p.Gly2684Asp)
NM_004370.6(COL12A1):c.8053T>C (p.Tyr2685His) rs2149353031
NM_004370.6(COL12A1):c.806T>C (p.Val269Ala)
NM_004370.6(COL12A1):c.8082G>C (p.Gly2694=) rs2149352990
NM_004370.6(COL12A1):c.8098G>A (p.Ala2700Thr)
NM_004370.6(COL12A1):c.80C>A (p.Pro27Gln)
NM_004370.6(COL12A1):c.8100+1G>C
NM_004370.6(COL12A1):c.8100+2T>C rs1768702301
NM_004370.6(COL12A1):c.8100+2T>G
NM_004370.6(COL12A1):c.8100+3_8100+6del rs2149352927
NM_004370.6(COL12A1):c.8100+4A>T rs2149352934
NM_004370.6(COL12A1):c.8100+5G>T
NM_004370.6(COL12A1):c.8101-1G>T rs2149349312
NM_004370.6(COL12A1):c.8108del (p.Ile2703fs)
NM_004370.6(COL12A1):c.8119G>T (p.Asp2707Tyr) rs1768551206
NM_004370.6(COL12A1):c.8122A>G (p.Ile2708Val)
NM_004370.6(COL12A1):c.8132G>A (p.Ser2711Asn) rs1768550579
NM_004370.6(COL12A1):c.8133T>C (p.Ser2711=)
NM_004370.6(COL12A1):c.8136A>C (p.Pro2712=)
NM_004370.6(COL12A1):c.8136A>G (p.Pro2712=)
NM_004370.6(COL12A1):c.8169T>G (p.Ile2723Met)
NM_004370.6(COL12A1):c.8178+16T>C
NM_004370.6(COL12A1):c.8178+6T>C
NM_004370.6(COL12A1):c.8178G>A (p.Arg2726=) rs1768547356
NM_004370.6(COL12A1):c.8179-12T>C
NM_004370.6(COL12A1):c.8179-15T>C
NM_004370.6(COL12A1):c.8179-16C>A
NM_004370.6(COL12A1):c.8179-17T>G
NM_004370.6(COL12A1):c.8179-20T>C
NM_004370.6(COL12A1):c.8179-2A>G rs1768495540
NM_004370.6(COL12A1):c.817T>A (p.Ser273Thr)
NM_004370.6(COL12A1):c.8189G>A (p.Gly2730Glu)
NM_004370.6(COL12A1):c.8198C>G (p.Pro2733Arg) rs1768494060
NM_004370.6(COL12A1):c.8201C>T (p.Ala2734Val)
NM_004370.6(COL12A1):c.8211T>C (p.Asn2737=)
NM_004370.6(COL12A1):c.823+15G>C
NM_004370.6(COL12A1):c.823+15G>T
NM_004370.6(COL12A1):c.823+17_823+18insGTAATGATAATGTAA
NM_004370.6(COL12A1):c.823+19A>G
NM_004370.6(COL12A1):c.823+4G>A
NM_004370.6(COL12A1):c.823+8A>C rs1769795222
NM_004370.6(COL12A1):c.8230G>C (p.Asp2744His)
NM_004370.6(COL12A1):c.8232C>T (p.Asp2744=) rs1582055336
NM_004370.6(COL12A1):c.8235C>G (p.Ser2745Arg)
NM_004370.6(COL12A1):c.8236G>A (p.Val2746Ile)
NM_004370.6(COL12A1):c.8239G>A (p.Gly2747Arg)
NM_004370.6(COL12A1):c.824-10dup
NM_004370.6(COL12A1):c.824-20C>G
NM_004370.6(COL12A1):c.824-20C>T rs369499035
NM_004370.6(COL12A1):c.8244T>C (p.Pro2748=)
NM_004370.6(COL12A1):c.8249G>C (p.Gly2750Ala) rs1582055239
NM_004370.6(COL12A1):c.8251C>A (p.Pro2751Thr)
NM_004370.6(COL12A1):c.8254C>A (p.Pro2752Thr) rs1768489455
NM_004370.6(COL12A1):c.8258G>A (p.Gly2753Asp) rs1768488927
NM_004370.6(COL12A1):c.8263G>T (p.Ala2755Ser)
NM_004370.6(COL12A1):c.8265+11T>C rs775543292
NM_004370.6(COL12A1):c.8265+1G>A rs2149347624
NM_004370.6(COL12A1):c.8265+20T>A
NM_004370.6(COL12A1):c.8266-14T>A
NM_004370.6(COL12A1):c.8266-6T>G
NM_004370.6(COL12A1):c.8266-8T>A
NM_004370.6(COL12A1):c.8266-8T>C
NM_004370.6(COL12A1):c.8276G>A (p.Gly2759Asp) rs1554168599
NM_004370.6(COL12A1):c.8278G>A (p.Ala2760Thr) rs1768418483
NM_004370.6(COL12A1):c.8285G>T (p.Gly2762Val)
NM_004370.6(COL12A1):c.82C>A (p.Pro28Thr) rs1473515166
NM_004370.6(COL12A1):c.8305A>G (p.Ile2769Val) rs1476228934
NM_004370.6(COL12A1):c.8317A>G (p.Ile2773Val) rs1254845133
NM_004370.6(COL12A1):c.8319+13del
NM_004370.6(COL12A1):c.8319+16_8319+17del
NM_004370.6(COL12A1):c.8319+17G>A
NM_004370.6(COL12A1):c.8319+1G>C rs1768416586
NM_004370.6(COL12A1):c.8319+1G>T
NM_004370.6(COL12A1):c.8319+5G>A
NM_004370.6(COL12A1):c.8320-12del rs1436326715
NM_004370.6(COL12A1):c.8320-15_8379delinsCA
NM_004370.6(COL12A1):c.8320-16C>G
NM_004370.6(COL12A1):c.8320-9G>A
NM_004370.6(COL12A1):c.8320G>T (p.Gly2774Trp) rs1768363255
NM_004370.6(COL12A1):c.8321G>A (p.Gly2774Glu) rs1768363108
NM_004370.6(COL12A1):c.8324C>T (p.Pro2775Leu)
NM_004370.6(COL12A1):c.8329G>C (p.Gly2777Arg)
NM_004370.6(COL12A1):c.8335C>T (p.Arg2779Cys) rs1768362148
NM_004370.6(COL12A1):c.8336G>C (p.Arg2779Pro)
NM_004370.6(COL12A1):c.8342A>C (p.Asp2781Ala)
NM_004370.6(COL12A1):c.8351C>T (p.Pro2784Leu) rs997353607
NM_004370.6(COL12A1):c.8353C>T (p.Pro2785Ser)
NM_004370.6(COL12A1):c.8354C>T (p.Pro2785Leu) rs1160043441
NM_004370.6(COL12A1):c.8357G>A (p.Gly2786Asp) rs796052094
NM_004370.6(COL12A1):c.8360C>T (p.Pro2787Leu)
NM_004370.6(COL12A1):c.8360_8365delinsTCCAGGCCTCCA (p.Pro2787_Gly2789delinsLeuGlnAlaSerSer)
NM_004370.6(COL12A1):c.8361_8378del (p.2785_2790PGPQGP[1]) rs1562116272
NM_004370.6(COL12A1):c.8365G>C (p.Gly2789Arg) rs1768359621
NM_004370.6(COL12A1):c.8365_8366insCCTCCA (p.Gly2789delinsAlaSerSer)
NM_004370.6(COL12A1):c.8366del (p.Gly2789fs)
NM_004370.6(COL12A1):c.8367T>G (p.Gly2789=)
NM_004370.6(COL12A1):c.8368C>T (p.Pro2790Ser) rs1582050849
NM_004370.6(COL12A1):c.8375G>A (p.Gly2792Asp) rs1768358751
NM_004370.6(COL12A1):c.8383G>T (p.Gly2795Ter) rs1768358162
NM_004370.6(COL12A1):c.8387C>T (p.Pro2796Leu)
NM_004370.6(COL12A1):c.8392G>A (p.Gly2798Arg) rs1582050802
NM_004370.6(COL12A1):c.8393G>T (p.Gly2798Val)
NM_004370.6(COL12A1):c.8393_8415+5del rs2149344192
NM_004370.6(COL12A1):c.839A>G (p.Asp280Gly)
NM_004370.6(COL12A1):c.8404C>A (p.Pro2802Thr)
NM_004370.6(COL12A1):c.8408G>C (p.Gly2803Ala)
NM_004370.6(COL12A1):c.8412G>C (p.Glu2804Asp) rs1768356411
NM_004370.6(COL12A1):c.8415+12G>A rs2149344185
NM_004370.6(COL12A1):c.8415+13C>T rs2149344182
NM_004370.6(COL12A1):c.8415+17T>C rs2149344172
NM_004370.6(COL12A1):c.8415+18C>T
NM_004370.6(COL12A1):c.8415+1G>C rs1768356177
NM_004370.6(COL12A1):c.8415+2dup
NM_004370.6(COL12A1):c.8416-17C>T
NM_004370.6(COL12A1):c.8416-8C>A rs775559307
NM_004370.6(COL12A1):c.8416G>T (p.Gly2806Cys) rs2149343509
NM_004370.6(COL12A1):c.8419C>T (p.Arg2807Cys)
NM_004370.6(COL12A1):c.8434G>A (p.Gly2812Ser)
NM_004370.6(COL12A1):c.8463C>T (p.Gly2821=)
NM_004370.6(COL12A1):c.8464C>T (p.Arg2822Ter) rs984314526
NM_004370.6(COL12A1):c.8468C>T (p.Thr2823Ile)
NM_004370.6(COL12A1):c.8469+20G>T rs1768324536
NM_004370.6(COL12A1):c.8469+9G>T
NM_004370.6(COL12A1):c.8470-12C>T
NM_004370.6(COL12A1):c.8470-4G>T
NM_004370.6(COL12A1):c.8474C>A (p.Thr2825Asn) rs1280191331
NM_004370.6(COL12A1):c.847G>T (p.Glu283Ter)
NM_004370.6(COL12A1):c.8486C>A (p.Pro2829His)
NM_004370.6(COL12A1):c.848A>T (p.Glu283Val) rs1554188241
NM_004370.6(COL12A1):c.8491C>T (p.Pro2831Ser) rs2149343047
NM_004370.6(COL12A1):c.8493A>G (p.Pro2831=)
NM_004370.6(COL12A1):c.8504T>G (p.Met2835Arg)
NM_004370.6(COL12A1):c.8510C>T (p.Pro2837Leu)
NM_004370.6(COL12A1):c.8523+17del
NM_004370.6(COL12A1):c.8524-10T>G
NM_004370.6(COL12A1):c.8524-12dup rs1261200705
NM_004370.6(COL12A1):c.8524-15dup rs2149337428
NM_004370.6(COL12A1):c.8524-3T>G
NM_004370.6(COL12A1):c.8524-6C>A rs777596531
NM_004370.6(COL12A1):c.8530A>C (p.Thr2844Pro)
NM_004370.6(COL12A1):c.8530A>T (p.Thr2844Ser)
NM_004370.6(COL12A1):c.8532T>A (p.Thr2844=)
NM_004370.6(COL12A1):c.8541C>T (p.Asp2847=)
NM_004370.6(COL12A1):c.8567C>G (p.Pro2856Arg) rs574147225
NM_004370.6(COL12A1):c.8571del (p.Pro2858fs) rs2149337320
NM_004370.6(COL12A1):c.8573C>T (p.Pro2858Leu)
NM_004370.6(COL12A1):c.8574G>A (p.Pro2858=)
NM_004370.6(COL12A1):c.8577+1del
NM_004370.6(COL12A1):c.8577+20C>T
NM_004370.6(COL12A1):c.8577+4A>G rs1562105188
NM_004370.6(COL12A1):c.8577G>A (p.Pro2859=) rs1768087709
NM_004370.6(COL12A1):c.8578-19C>G
NM_004370.6(COL12A1):c.8578-6T>G
NM_004370.6(COL12A1):c.8578-8T>C rs2149333586
NM_004370.6(COL12A1):c.8583C>T (p.Ser2861=) rs189999387
NM_004370.6(COL12A1):c.8601C>T (p.Val2867=)
NM_004370.6(COL12A1):c.8602A>G (p.Thr2868Ala) rs2149333527
NM_004370.6(COL12A1):c.8605G>A (p.Gly2869Arg) rs1554167424
NM_004370.6(COL12A1):c.8608C>G (p.Pro2870Ala)
NM_004370.6(COL12A1):c.8611A>C (p.Ser2871Arg)
NM_004370.6(COL12A1):c.8613T>C (p.Ser2871=)
NM_004370.6(COL12A1):c.8630C>A (p.Pro2877His)
NM_004370.6(COL12A1):c.863C>T (p.Ala288Val) rs1385414325
NM_004370.6(COL12A1):c.8643C>T (p.Gly2881=) rs1767942315
NM_004370.6(COL12A1):c.8649+10C>G
NM_004370.6(COL12A1):c.8649+13C>A
NM_004370.6(COL12A1):c.8649+13C>G
NM_004370.6(COL12A1):c.8649+16G>C
NM_004370.6(COL12A1):c.8649+6C>T rs1037107431
NM_004370.6(COL12A1):c.8649A>G (p.Pro2883=) rs900917198
NM_004370.6(COL12A1):c.8650-14T>A
NM_004370.6(COL12A1):c.8650-19T>C
NM_004370.6(COL12A1):c.8650-20A>C rs1281657456
NM_004370.6(COL12A1):c.8650G>T (p.Gly2884Cys)
NM_004370.6(COL12A1):c.8672A>G (p.Glu2891Gly) rs1767765917
NM_004370.6(COL12A1):c.867C>T (p.Ser289=)
NM_004370.6(COL12A1):c.8685+13A>T
NM_004370.6(COL12A1):c.8685+17A>G
NM_004370.6(COL12A1):c.8685+18A>G rs2149328733
NM_004370.6(COL12A1):c.8685+18dup rs763196298
NM_004370.6(COL12A1):c.8685+1G>A
NM_004370.6(COL12A1):c.8685+3A>G
NM_004370.6(COL12A1):c.8685+4T>C
NM_004370.6(COL12A1):c.8685+8T>C rs763115734
NM_004370.6(COL12A1):c.8685G>A (p.Arg2895=)
NM_004370.6(COL12A1):c.8686-6A>G
NM_004370.6(COL12A1):c.8697T>G (p.Ala2899=)
NM_004370.6(COL12A1):c.8703G>A (p.Gln2901=)
NM_004370.6(COL12A1):c.8713C>T (p.Arg2905Ter) rs371399251
NM_004370.6(COL12A1):c.871C>A (p.Pro291Thr) rs1319038184
NM_004370.6(COL12A1):c.8720T>A (p.Val2907Asp)
NM_004370.6(COL12A1):c.8725A>C (p.Arg2909=)
NM_004370.6(COL12A1):c.8740del (p.Gln2914fs)
NM_004370.6(COL12A1):c.8751T>A (p.Ser2917Arg) rs1562093184
NM_004370.6(COL12A1):c.8752+14T>C
NM_004370.6(COL12A1):c.8752+15C>G
NM_004370.6(COL12A1):c.8752+18T>C
NM_004370.6(COL12A1):c.8752+5A>C
NM_004370.6(COL12A1):c.8752+9del
NM_004370.6(COL12A1):c.8759_8762del (p.Met2920fs)
NM_004370.6(COL12A1):c.8762A>T (p.Asn2921Ile) rs1767695881
NM_004370.6(COL12A1):c.8771A>G (p.Asn2924Ser)
NM_004370.6(COL12A1):c.8777T>C (p.Met2926Thr)
NM_004370.6(COL12A1):c.877C>T (p.Leu293=)
NM_004370.6(COL12A1):c.8783A>G (p.Asn2928Ser)
NM_004370.6(COL12A1):c.8790T>C (p.Ile2930=)
NM_004370.6(COL12A1):c.8804A>C (p.Gln2935Pro)
NM_004370.6(COL12A1):c.8813G>A (p.Arg2938His)
NM_004370.6(COL12A1):c.8813G>T (p.Arg2938Leu) rs752206319
NM_004370.6(COL12A1):c.8828C>T (p.Pro2943Leu)
NM_004370.6(COL12A1):c.8829G>A (p.Pro2943=)
NM_004370.6(COL12A1):c.8832G>A (p.Pro2944=) rs2149327016
NM_004370.6(COL12A1):c.8835T>A (p.Gly2945=) rs2149327011
NM_004370.6(COL12A1):c.8837C>T (p.Pro2946Leu)
NM_004370.6(COL12A1):c.8840C>T (p.Pro2947Leu)
NM_004370.6(COL12A1):c.8851G>A (p.Gly2951Ser)
NM_004370.6(COL12A1):c.8852G>T (p.Gly2951Val)
NM_004370.6(COL12A1):c.8858C>T (p.Ala2953Val) rs1554166746
NM_004370.6(COL12A1):c.8863G>A (p.Ala2955Thr)
NM_004370.6(COL12A1):c.8865C>T (p.Ala2955=) rs2149326931
NM_004370.6(COL12A1):c.8868A>G (p.Arg2956=) rs942666795
NM_004370.6(COL12A1):c.8875C>T (p.Pro2959Ser) rs1562090566
NM_004370.6(COL12A1):c.887T>G (p.Val296Gly) rs1769748525
NM_004370.6(COL12A1):c.8880G>C (p.Gly2960=) rs774577979
NM_004370.6(COL12A1):c.8884G>T (p.Gly2962Trp)
NM_004370.6(COL12A1):c.8890C>A (p.Arg2964=) rs760317754
NM_004370.6(COL12A1):c.8890C>T (p.Arg2964Trp) rs760317754
NM_004370.6(COL12A1):c.8891G>T (p.Arg2964Leu) rs369768310
NM_004370.6(COL12A1):c.8903C>A (p.Pro2968Gln)
NM_004370.6(COL12A1):c.890T>C (p.Phe297Ser)
NM_004370.6(COL12A1):c.8912C>A (p.Pro2971Gln) rs1767686939
NM_004370.6(COL12A1):c.8915G>A (p.Gly2972Glu) rs1582030236
NM_004370.6(COL12A1):c.8916G>A (p.Gly2972=) rs2149326803
NM_004370.6(COL12A1):c.8922G>C (p.Gln2974His)
NM_004370.6(COL12A1):c.8929C>A (p.Pro2977Thr) rs1310755474
NM_004370.6(COL12A1):c.892A>C (p.Asn298His) rs1404705545
NM_004370.6(COL12A1):c.892A>T (p.Asn298Tyr) rs1404705545
NM_004370.6(COL12A1):c.8931T>C (p.Pro2977=) rs2149326774
NM_004370.6(COL12A1):c.8938C>T (p.Arg2980Ter)
NM_004370.6(COL12A1):c.8939G>A (p.Arg2980Gln)
NM_004370.6(COL12A1):c.8941+14G>C
NM_004370.6(COL12A1):c.8941+16T>C
NM_004370.6(COL12A1):c.8942-14T>G
NM_004370.6(COL12A1):c.8942-5C>A
NM_004370.6(COL12A1):c.8946G>T (p.Leu2982Phe) rs1767642437
NM_004370.6(COL12A1):c.8953G>A (p.Glu2985Lys) rs1767642101
NM_004370.6(COL12A1):c.8954A>G (p.Glu2985Gly)
NM_004370.6(COL12A1):c.8994G>A (p.Gly2998=) rs1321003013
NM_004370.6(COL12A1):c.8994G>C (p.Gly2998=) rs1321003013
NM_004370.6(COL12A1):c.8994G>T (p.Gly2998=) rs1321003013
NM_004370.6(COL12A1):c.899C>T (p.Ala300Val) rs763589676
NM_004370.6(COL12A1):c.89A>G (p.Asp30Gly) rs1582219536
NM_004370.6(COL12A1):c.9003C>A (p.Gly3001=) rs1281725784
NM_004370.6(COL12A1):c.9004C>T (p.Pro3002Ser)
NM_004370.6(COL12A1):c.9010+15A>G
NM_004370.6(COL12A1):c.9010+2T>C
NM_004370.6(COL12A1):c.9010+4G>C rs2149325295
NM_004370.6(COL12A1):c.9010+5G>A
NM_004370.6(COL12A1):c.9011-20T>A rs1336319358
NM_004370.6(COL12A1):c.9011-20_9011-19del
NM_004370.6(COL12A1):c.9011-8C>T
NM_004370.6(COL12A1):c.9014C>T (p.Pro3005Leu) rs1767574773
NM_004370.6(COL12A1):c.9032C>T (p.Thr3011Ile) rs1767574420
NM_004370.6(COL12A1):c.9039A>C (p.Pro3013=)
NM_004370.6(COL12A1):c.9050C>T (p.Thr3017Ile) rs1767573014
NM_004370.6(COL12A1):c.9055T>C (p.Ser3019Pro) rs1307746550
NM_004370.6(COL12A1):c.9065CCCCTGGCC[3] (p.Gly3027_Arg3028insProProGly)
NM_004370.6(COL12A1):c.9071G>A (p.Gly3024Asp)
NM_004370.6(COL12A1):c.9072C>T (p.Gly3024=) rs572512247
NM_004370.6(COL12A1):c.9073C>T (p.Pro3025Ser) rs560180665
NM_004370.6(COL12A1):c.9074C>A (p.Pro3025His)
NM_004370.6(COL12A1):c.9076C>T (p.Pro3026Ser) rs376189614
NM_004370.6(COL12A1):c.9077C>T (p.Pro3026Leu) rs1767570608
NM_004370.6(COL12A1):c.9077del (p.Pro3026fs)
NM_004370.6(COL12A1):c.9078del (p.Gly3027fs) rs2149322917
NM_004370.6(COL12A1):c.9081C>T (p.Gly3027=)
NM_004370.6(COL12A1):c.9082C>T (p.Arg3028Cys) rs1767569916
NM_004370.6(COL12A1):c.9084T>C (p.Arg3028=) rs1448973629
NM_004370.6(COL12A1):c.9092A>G (p.Asn3031Ser)
NM_004370.6(COL12A1):c.9107G>A (p.Gly3036Glu)
NM_004370.6(COL12A1):c.9108A>G (p.Gly3036=) rs777425494
NM_004370.6(COL12A1):c.9108A>T (p.Gly3036=)
NM_004370.6(COL12A1):c.9109C>T (p.Pro3037Ser)
NM_004370.6(COL12A1):c.9115G>A (p.Gly3039Ser)
NM_004370.6(COL12A1):c.9119C>T (p.Pro3040Leu)
NM_004370.6(COL12A1):c.9122C>T (p.Pro3041Leu) rs1767566470
NM_004370.6(COL12A1):c.9130T>G (p.Cys3044Gly) rs2149322777
NM_004370.6(COL12A1):c.9134A>T (p.Asp3045Val) rs751471471
NM_004370.6(COL12A1):c.913A>G (p.Ile305Val) rs1769746949
NM_004370.6(COL12A1):c.9143A>C (p.Gln3048Pro)
NM_004370.6(COL12A1):c.9146G>A (p.Cys3049Tyr) rs1268620135
NM_004370.6(COL12A1):c.9149C>A (p.Ala3050Asp)
NM_004370.6(COL12A1):c.9168G>A (p.Gly3056=)
NM_004370.6(COL12A1):c.9169C>T (p.Gln3057Ter)
NM_004370.6(COL12A1):c.9176A>G (p.Tyr3059Cys)
NM_004370.6(COL12A1):c.9178C>T (p.Pro3060Ser)
NM_004370.6(COL12A1):c.9181+11G>A
NM_004370.6(COL12A1):c.9181+16T>C
NM_004370.6(COL12A1):c.9181+18T>C
NM_004370.6(COL12A1):c.9181+20G>A
NM_004370.6(COL12A1):c.9181+4C>G
NM_004370.6(COL12A1):c.9181+5G>A
NM_004370.6(COL12A1):c.9182-11A>G
NM_004370.6(COL12A1):c.9182-19C>A rs1767498861
NM_004370.6(COL12A1):c.9185C>T (p.Ser3062Phe)
NM_004370.6(COL12A1):c.939C>T (p.Ile313=)
NM_004370.6(COL12A1):c.946G>A (p.Val316Met)
NM_004370.6(COL12A1):c.974G>A (p.Gly325Asp)
NM_004370.6(COL12A1):c.97T>G (p.Phe33Val) rs1442527803
NM_004370.6(COL12A1):c.982G>T (p.Val328Phe) rs370040853
NM_004370.6(COL12A1):c.984T>G (p.Val328=)
NM_004370.6(COL12A1):c.986G>A (p.Ser329Asn) rs1769743212
NM_004370.6(COL12A1):c.987T>C (p.Ser329=)
NM_004370.6(COL12A1):c.993A>C (p.Glu331Asp)
NM_004370.6(COL12A1):c.997+15T>G rs2149473736
NM_004370.6(COL12A1):c.997+2T>C
NM_004370.6(COL12A1):c.997+7A>G
NM_004370.6(COL12A1):c.997+9A>G rs560228996
NM_004370.6(COL12A1):c.998-15C>T
NM_004370.6(COL12A1):c.998-17T>C
NM_004393.6(DAG1):c.1005del (p.Ser336fs) rs2107932056
NM_004393.6(DAG1):c.1007C>T (p.Ser336Phe)
NM_004393.6(DAG1):c.1026C>T (p.Pro342=) rs1553652858
NM_004393.6(DAG1):c.1028C>T (p.Thr343Ile)
NM_004393.6(DAG1):c.1032T>A (p.Ser344=)
NM_004393.6(DAG1):c.1040T>C (p.Ile347Thr)
NM_004393.6(DAG1):c.1074C>A (p.Val358=) rs2051347866
NM_004393.6(DAG1):c.1075A>G (p.Arg359Gly) rs2051347944
NM_004393.6(DAG1):c.1081C>T (p.Pro361Ser) rs1248397261
NM_004393.6(DAG1):c.1083T>C (p.Pro361=)
NM_004393.6(DAG1):c.1087C>G (p.Pro363Ala)
NM_004393.6(DAG1):c.108A>C (p.Ser36=) rs1289056506
NM_004393.6(DAG1):c.1097C>T (p.Pro366Leu)
NM_004393.6(DAG1):c.1105A>G (p.Thr369Ala) rs1553652891
NM_004393.6(DAG1):c.1106C>G (p.Thr369Ser) rs780709869
NM_004393.6(DAG1):c.1122C>T (p.Gly374=) rs139993618
NM_004393.6(DAG1):c.1150C>T (p.Pro384Ser) rs2107934008
NM_004393.6(DAG1):c.1165C>T (p.Arg389Trp)
NM_004393.6(DAG1):c.1185C>T (p.Thr395=)
NM_004393.6(DAG1):c.1205G>A (p.Arg402His) rs537829489
NM_004393.6(DAG1):c.1211C>T (p.Thr404Met)
NM_004393.6(DAG1):c.1218C>A (p.Thr406=) rs1290739352
NM_004393.6(DAG1):c.1223C>T (p.Pro408Leu) rs2051353290
NM_004393.6(DAG1):c.1224T>C (p.Pro408=)
NM_004393.6(DAG1):c.1226G>T (p.Gly409Val)
NM_004393.6(DAG1):c.1236G>A (p.Glu412=) rs760924685
NM_004393.6(DAG1):c.1236G>T (p.Glu412Asp) rs760924685
NM_004393.6(DAG1):c.123C>G (p.Asp41Glu) rs2050738548
NM_004393.6(DAG1):c.1251T>C (p.Ala417=) rs2107935604
NM_004393.6(DAG1):c.1255C>T (p.Pro419Ser) rs1263472474
NM_004393.6(DAG1):c.126G>C (p.Trp42Cys) rs2050738653
NM_004393.6(DAG1):c.1300C>T (p.Pro434Ser) rs2051356312
NM_004393.6(DAG1):c.1317T>C (p.Thr439=)
NM_004393.6(DAG1):c.1323C>T (p.Ser441=) rs2051357458
NM_004393.6(DAG1):c.1323CAC[3] (p.Thr446del) rs778752288
NM_004393.6(DAG1):c.1324A>T (p.Thr442Ser)
NM_004393.6(DAG1):c.1326C>T (p.Thr442=)
NM_004393.6(DAG1):c.1329C>A (p.Thr443=)
NM_004393.6(DAG1):c.1329C>T (p.Thr443=)
NM_004393.6(DAG1):c.1331C>T (p.Thr444Ile)
NM_004393.6(DAG1):c.1334C>T (p.Thr445Met)
NM_004393.6(DAG1):c.1345C>T (p.Pro449Ser)
NM_004393.6(DAG1):c.1360del (p.Arg454fs) rs2051359062
NM_004393.6(DAG1):c.1362G>A (p.Arg454=)
NM_004393.6(DAG1):c.1370G>T (p.Arg457Leu)
NM_004393.6(DAG1):c.1381C>A (p.Arg461=)
NM_004393.6(DAG1):c.1381C>T (p.Arg461Trp)
NM_004393.6(DAG1):c.1389C>T (p.Thr463=)
NM_004393.6(DAG1):c.1392C>G (p.Thr464=)
NM_004393.6(DAG1):c.1399T>C (p.Ser467Pro) rs773540166
NM_004393.6(DAG1):c.1402A>G (p.Ile468Val)
NM_004393.6(DAG1):c.1410A>T (p.Arg470Ser)
NM_004393.6(DAG1):c.1423_1424insTT (p.Ser475fs)
NM_004393.6(DAG1):c.1444A>G (p.Thr482Ala)
NM_004393.6(DAG1):c.1452C>A (p.Thr484=) rs2051362724
NM_004393.6(DAG1):c.1453_1454insC (p.Ser485fs) rs2107938946
NM_004393.6(DAG1):c.1455T>A (p.Ser485Arg)
NM_004393.6(DAG1):c.1462C>G (p.Pro488Ala) rs755443084
NM_004393.6(DAG1):c.1465del (p.Arg489fs) rs2107939163
NM_004393.6(DAG1):c.1479C>T (p.Pro493=)
NM_004393.6(DAG1):c.147C>T (p.Ser49=)
NM_004393.6(DAG1):c.1487G>T (p.Arg496Leu) rs199519832
NM_004393.6(DAG1):c.1489C>G (p.Pro497Ala) rs376508721
NM_004393.6(DAG1):c.1492_1494del (p.Glu498del) rs1553653093
NM_004393.6(DAG1):c.14T>G (p.Val5Gly)
NM_004393.6(DAG1):c.1508T>C (p.Ile503Thr)
NM_004393.6(DAG1):c.1532G>A (p.Gly511Asp) rs775568320
NM_004393.6(DAG1):c.153C>G (p.His51Gln) rs1329844909
NM_004393.6(DAG1):c.1545G>A (p.Glu515=)
NM_004393.6(DAG1):c.1557G>A (p.Pro519=) rs201897321
NM_004393.6(DAG1):c.1569C>G (p.Phe523Leu) rs1240708570
NM_004393.6(DAG1):c.1569C>T (p.Phe523=)
NM_004393.6(DAG1):c.1596C>T (p.Asp532=)
NM_004393.6(DAG1):c.1599G>A (p.Lys533=)
NM_004393.6(DAG1):c.15G>A (p.Val5=) rs1405959055
NM_004393.6(DAG1):c.160C>G (p.Leu54Val)
NM_004393.6(DAG1):c.1610C>T (p.Thr537Ile)
NM_004393.6(DAG1):c.1618C>G (p.Leu540Val)
NM_004393.6(DAG1):c.162C>G (p.Leu54=) rs371638777
NM_004393.6(DAG1):c.1639G>C (p.Gly547Arg)
NM_004393.6(DAG1):c.1656A>G (p.Val552=) rs2051369610
NM_004393.6(DAG1):c.1662C>T (p.Phe554=) rs2051369866
NM_004393.6(DAG1):c.1673G>T (p.Ser558Ile)
NM_004393.6(DAG1):c.1677G>A (p.Gln559=)
NM_004393.6(DAG1):c.1681A>G (p.Met561Val)
NM_004393.6(DAG1):c.1688G>A (p.Gly563Asp) rs2107942332
NM_004393.6(DAG1):c.1690C>T (p.Leu564Phe)
NM_004393.6(DAG1):c.1705C>T (p.His569Tyr) rs1559579950
NM_004393.6(DAG1):c.1715A>C (p.Lys572Thr) rs374936878
NM_004393.6(DAG1):c.1729A>G (p.Met577Val)
NM_004393.6(DAG1):c.173A>T (p.His58Leu) rs956626990
NM_004393.6(DAG1):c.1745A>G (p.Lys582Arg)
NM_004393.6(DAG1):c.1750_1751delinsT (p.Gly584fs) rs2051374109
NM_004393.6(DAG1):c.175G>A (p.Glu59Lys) rs767737417
NM_004393.6(DAG1):c.175G>T (p.Glu59Ter) rs767737417
NM_004393.6(DAG1):c.1783G>A (p.Val595Ile)
NM_004393.6(DAG1):c.1795C>T (p.Pro599Ser) rs2051376280
NM_004393.6(DAG1):c.1800A>T (p.Gln600His) rs755173858
NM_004393.6(DAG1):c.1801G>C (p.Gly601Arg)
NM_004393.6(DAG1):c.1804G>A (p.Asp602Asn) rs1447621250
NM_004393.6(DAG1):c.1812T>A (p.Ala604=) rs2107944571
NM_004393.6(DAG1):c.1813C>G (p.Pro605Ala) rs866228869
NM_004393.6(DAG1):c.1815T>C (p.Pro605=)
NM_004393.6(DAG1):c.1817C>T (p.Ala606Val)
NM_004393.6(DAG1):c.181G>A (p.Val61Ile) rs2107648206
NM_004393.6(DAG1):c.1824C>T (p.Phe608=)
NM_004393.6(DAG1):c.1826A>G (p.Lys609Arg) rs200798800
NM_004393.6(DAG1):c.1833G>A (p.Lys611=)
NM_004393.6(DAG1):c.1837G>T (p.Val613Leu)
NM_004393.6(DAG1):c.1839G>T (p.Val613=) rs1247864796
NM_004393.6(DAG1):c.1842T>A (p.Gly614=)
NM_004393.6(DAG1):c.1874A>G (p.Lys625Arg)
NM_004393.6(DAG1):c.1874AGA[1] (p.Lys626del) rs745350022
NM_004393.6(DAG1):c.1882G>T (p.Ala628Ser)
NM_004393.6(DAG1):c.1883_1887delinsACTTT (p.Ala628_Leu629delinsAspPhe) rs1559580384
NM_004393.6(DAG1):c.1895A>C (p.Lys632Thr)
NM_004393.6(DAG1):c.1908C>T (p.Ala636=)
NM_004393.6(DAG1):c.1911del (p.Phe637fs) rs2107946182
NM_004393.6(DAG1):c.1915G>C (p.Asp639His) rs2107946219
NM_004393.6(DAG1):c.1918C>G (p.Arg640Gly) rs1404065812
NM_004393.6(DAG1):c.1918C>T (p.Arg640Ter)
NM_004393.6(DAG1):c.1925G>A (p.Cys642Tyr) rs1559580460
NM_004393.6(DAG1):c.1955G>T (p.Arg652Leu) rs368810294
NM_004393.6(DAG1):c.1969G>C (p.Val657Leu) rs2107947164
NM_004393.6(DAG1):c.1977G>A (p.Trp659Ter) rs1553653437
NM_004393.6(DAG1):c.1981A>G (p.Asn661Asp)
NM_004393.6(DAG1):c.1982_1983delinsTT (p.Asn661Ile) rs2051384851
NM_004393.6(DAG1):c.1992G>A (p.Leu664=) rs2107947638
NM_004393.6(DAG1):c.1999G>A (p.Glu667Lys)
NM_004393.6(DAG1):c.2001G>T (p.Glu667Asp) rs767648246
NM_004393.6(DAG1):c.2006G>T (p.Cys669Phe) rs797045023
NM_004393.6(DAG1):c.2010C>T (p.Pro670=)
NM_004393.6(DAG1):c.2011A>T (p.Lys671Ter) rs2107948146
NM_004393.6(DAG1):c.2018A>C (p.Gln673Pro) rs1433049354
NM_004393.6(DAG1):c.2018A>G (p.Gln673Arg)
NM_004393.6(DAG1):c.2031G>T (p.Leu677=)
NM_004393.6(DAG1):c.2043C>T (p.Ile681=) rs543326525
NM_004393.6(DAG1):c.2051A>G (p.Asp684Gly) rs2051388402
NM_004393.6(DAG1):c.2068C>T (p.Pro690Ser) rs2107949142
NM_004393.6(DAG1):c.2072C>T (p.Ala691Val)
NM_004393.6(DAG1):c.2081A>G (p.Asn694Ser)
NM_004393.6(DAG1):c.2100T>G (p.Phe700Leu) rs141697036
NM_004393.6(DAG1):c.210C>T (p.Gly70=) rs2107648464
NM_004393.6(DAG1):c.2116A>C (p.Thr706Pro) rs138386617
NM_004393.6(DAG1):c.2124G>A (p.Thr708=) rs140204495
NM_004393.6(DAG1):c.2124G>C (p.Thr708=) rs140204495
NM_004393.6(DAG1):c.2124_2127del (p.Gly709fs)
NM_004393.6(DAG1):c.212C>A (p.Thr71Lys) rs142572135
NM_004393.6(DAG1):c.2141G>A (p.Arg714Gln) rs201488118
NM_004393.6(DAG1):c.2141G>T (p.Arg714Leu) rs201488118
NM_004393.6(DAG1):c.2155A>G (p.Ile719Val)
NM_004393.6(DAG1):c.2161G>A (p.Val721Met)
NM_004393.6(DAG1):c.216T>C (p.Ala72=)
NM_004393.6(DAG1):c.2170C>A (p.Pro724Thr)
NM_004393.6(DAG1):c.2170C>T (p.Pro724Ser)
NM_004393.6(DAG1):c.2181G>T (p.Val727=)
NM_004393.6(DAG1):c.2184C>T (p.Pro728=) rs1553653579
NM_004393.6(DAG1):c.2194C>A (p.Pro732Thr) rs1406481422
NM_004393.6(DAG1):c.2200A>G (p.Thr734Ala)
NM_004393.6(DAG1):c.2201C>T (p.Thr734Ile)
NM_004393.6(DAG1):c.2205A>C (p.Glu735Asp)
NM_004393.6(DAG1):c.2206G>A (p.Val736Met)
NM_004393.6(DAG1):c.2207T>G (p.Val736Gly)
NM_004393.6(DAG1):c.2215_2216del (p.Arg739fs) rs2107952051
NM_004393.6(DAG1):c.2221C>T (p.Pro741Ser)
NM_004393.6(DAG1):c.2245G>A (p.Val749Ile) rs1559581311
NM_004393.6(DAG1):c.2251C>T (p.Leu751=) rs1553653673
NM_004393.6(DAG1):c.2268G>A (p.Pro756=)
NM_004393.6(DAG1):c.2280C>T (p.Val760=)
NM_004393.6(DAG1):c.2293C>A (p.Leu765Ile) rs905804433
NM_004393.6(DAG1):c.2294T>C (p.Leu765Pro) rs2107953423
NM_004393.6(DAG1):c.2295C>T (p.Leu765=)
NM_004393.6(DAG1):c.2303G>T (p.Gly768Val) rs1553653701
NM_004393.6(DAG1):c.2315dup (p.Met772fs) rs2107953983
NM_004393.6(DAG1):c.2327G>A (p.Arg776His) rs753991804
NM_004393.6(DAG1):c.2330A>G (p.Lys777Arg) rs2107954269
NM_004393.6(DAG1):c.2342G>A (p.Gly781Asp) rs1223724355
NM_004393.6(DAG1):c.2352C>T (p.Thr784=) rs553722437
NM_004393.6(DAG1):c.235C>T (p.Arg79Ter) rs1334656238
NM_004393.6(DAG1):c.237A>G (p.Arg79=)
NM_004393.6(DAG1):c.2382G>A (p.Lys794=) rs2107954873
NM_004393.6(DAG1):c.2388G>A (p.Val796=) rs542910395
NM_004393.6(DAG1):c.2420C>T (p.Ser807Phe)
NM_004393.6(DAG1):c.2429C>A (p.Pro810Gln)
NM_004393.6(DAG1):c.2433C>T (p.Pro811=)
NM_004393.6(DAG1):c.2439C>T (p.Ser813=)
NM_004393.6(DAG1):c.2451C>T (p.Leu817=) rs886042761
NM_004393.6(DAG1):c.2475C>T (p.Pro825=)
NM_004393.6(DAG1):c.2478A>G (p.Leu826=)
NM_004393.6(DAG1):c.2480C>G (p.Pro827Arg)
NM_004393.6(DAG1):c.2481C>G (p.Pro827=) rs1328445862
NM_004393.6(DAG1):c.2482C>A (p.Pro828Thr) rs755251035
NM_004393.6(DAG1):c.2493C>T (p.Tyr831=) rs1334041253
NM_004393.6(DAG1):c.24G>A (p.Ser8=) rs1229832209
NM_004393.6(DAG1):c.2503A>T (p.Ser835Cys)
NM_004393.6(DAG1):c.2503_2504del (p.Ser835fs) rs2107957043
NM_004393.6(DAG1):c.2512G>A (p.Glu838Lys) rs745846165
NM_004393.6(DAG1):c.2546A>T (p.Glu849Val) rs865854417
NM_004393.6(DAG1):c.2555C>T (p.Pro852Leu) rs764827670
NM_004393.6(DAG1):c.2561G>A (p.Arg854Gln) rs199933395
NM_004393.6(DAG1):c.2598A>G (p.Pro866=)
NM_004393.6(DAG1):c.2612C>T (p.Ala871Val)
NM_004393.6(DAG1):c.2632T>C (p.Ser878Pro) rs776376235
NM_004393.6(DAG1):c.2645A>G (p.Asn882Ser) rs2107959641
NM_004393.6(DAG1):c.264C>T (p.Ala88=) rs765191278
NM_004393.6(DAG1):c.2661G>T (p.Arg887=) rs1575414764
NM_004393.6(DAG1):c.2675A>G (p.Tyr892Cys) rs1394689956
NM_004393.6(DAG1):c.2679C>T (p.Val893=)
NM_004393.6(DAG1):c.268A>G (p.Ser90Gly) rs140454570
NM_004393.6(DAG1):c.271G>A (p.Gly91Arg) rs1193999215
NM_004393.6(DAG1):c.272G>A (p.Gly91Glu) rs766324183
NM_004393.6(DAG1):c.285+1G>A rs2050744878
NM_004393.6(DAG1):c.285+7C>T
NM_004393.6(DAG1):c.286-1_287del
NM_004393.6(DAG1):c.286-4del
NM_004393.6(DAG1):c.286-9C>T rs2107922008
NM_004393.6(DAG1):c.294G>T (p.Ala98=)
NM_004393.6(DAG1):c.317C>T (p.Ser106Phe) rs969302268
NM_004393.6(DAG1):c.32T>C (p.Leu11Pro)
NM_004393.6(DAG1):c.330G>A (p.Trp110Ter) rs2051320206
NM_004393.6(DAG1):c.333C>T (p.Asp111=) rs1221719616
NM_004393.6(DAG1):c.372T>C (p.Thr124=) rs555051245
NM_004393.6(DAG1):c.384G>A (p.Val128=) rs143829263
NM_004393.6(DAG1):c.384G>T (p.Val128=) rs143829263
NM_004393.6(DAG1):c.385C>T (p.His129Tyr) rs763108184
NM_004393.6(DAG1):c.396A>C (p.Ser132=) rs1575410151
NM_004393.6(DAG1):c.39C>T (p.Leu13=) rs62261246
NM_004393.6(DAG1):c.409C>T (p.Arg137Trp) rs374440411
NM_004393.6(DAG1):c.41C>A (p.Ser14Ter) rs2131107
NM_004393.6(DAG1):c.420C>T (p.Ala140=)
NM_004393.6(DAG1):c.42G>C (p.Ser14=) rs770996993
NM_004393.6(DAG1):c.435C>T (p.Ile145=)
NM_004393.6(DAG1):c.43G>T (p.Gly15Trp) rs2107646938
NM_004393.6(DAG1):c.440del (p.Gln147fs) rs1553652503
NM_004393.6(DAG1):c.442A>T (p.Thr148Ser) rs1297914937
NM_004393.6(DAG1):c.454_467del (p.Phe152fs) rs1553652513
NM_004393.6(DAG1):c.459C>T (p.Ser153=) rs2107924634
NM_004393.6(DAG1):c.462C>G (p.Ile154Met)
NM_004393.6(DAG1):c.462C>T (p.Ile154=)
NM_004393.6(DAG1):c.463G>A (p.Glu155Lys)
NM_004393.6(DAG1):c.473C>G (p.Pro158Arg) rs368359780
NM_004393.6(DAG1):c.473C>T (p.Pro158Leu) rs368359780
NM_004393.6(DAG1):c.479_482dup (p.His161fs)
NM_004393.6(DAG1):c.481C>G (p.His161Asp) rs2051326372
NM_004393.6(DAG1):c.510C>T (p.Ala170=) rs147153370
NM_004393.6(DAG1):c.524G>A (p.Gly175Asp) rs757948629
NM_004393.6(DAG1):c.524G>T (p.Gly175Val)
NM_004393.6(DAG1):c.534A>G (p.Val178=)
NM_004393.6(DAG1):c.551C>T (p.Ala184Val) rs1431924829
NM_004393.6(DAG1):c.552G>A (p.Ala184=) rs749602970
NM_004393.6(DAG1):c.552G>C (p.Ala184=) rs749602970
NM_004393.6(DAG1):c.55C>T (p.Leu19Phe) rs2107647080
NM_004393.6(DAG1):c.568G>C (p.Val190Leu)
NM_004393.6(DAG1):c.575C>T (p.Thr192Met) rs193922955
NM_004393.6(DAG1):c.587A>T (p.Asp196Val) rs2107926325
NM_004393.6(DAG1):c.59T>A (p.Leu20His)
NM_004393.6(DAG1):c.5G>A (p.Arg2Lys)
NM_004393.6(DAG1):c.5G>C (p.Arg2Thr)
NM_004393.6(DAG1):c.608C>T (p.Thr203Ile) rs2107926551
NM_004393.6(DAG1):c.624T>C (p.Ile208=) rs2107926759
NM_004393.6(DAG1):c.636C>T (p.His212=) rs765923041
NM_004393.6(DAG1):c.63G>T (p.Leu21=) rs776146096
NM_004393.6(DAG1):c.645G>A (p.Arg215=) rs2107927047
NM_004393.6(DAG1):c.658G>C (p.Val220Leu) rs2107927146
NM_004393.6(DAG1):c.686C>T (p.Pro229Leu)
NM_004393.6(DAG1):c.691G>T (p.Val231Leu) rs2051333513
NM_004393.6(DAG1):c.716C>T (p.Ser239Leu)
NM_004393.6(DAG1):c.721_722del (p.Phe241fs)
NM_004393.6(DAG1):c.727G>A (p.Ala243Thr) rs2051334627
NM_004393.6(DAG1):c.734C>T (p.Pro245Leu) rs780960166
NM_004393.6(DAG1):c.743del (p.Ala248fs) rs869320680
NM_004393.6(DAG1):c.751del (p.Val251fs) rs1575410881
NM_004393.6(DAG1):c.751dup (p.Val251fs) rs1575410881
NM_004393.6(DAG1):c.777C>T (p.Ser259=)
NM_004393.6(DAG1):c.781A>G (p.Lys261Glu) rs2107928548
NM_004393.6(DAG1):c.786G>A (p.Leu262=) rs2051336967
NM_004393.6(DAG1):c.810T>C (p.Ser270=)
NM_004393.6(DAG1):c.815C>G (p.Pro272Arg) rs371509534
NM_004393.6(DAG1):c.827G>T (p.Gly276Val)
NM_004393.6(DAG1):c.838C>A (p.Pro280Thr) rs908394465
NM_004393.6(DAG1):c.838C>T (p.Pro280Ser) rs908394465
NM_004393.6(DAG1):c.843C>G (p.Ala281=)
NM_004393.6(DAG1):c.843C>T (p.Ala281=)
NM_004393.6(DAG1):c.845G>T (p.Arg282Met)
NM_004393.6(DAG1):c.852C>G (p.Gly284=)
NM_004393.6(DAG1):c.854C>T (p.Ala285Val) rs1235865427
NM_004393.6(DAG1):c.855A>G (p.Ala285=) rs2107929680
NM_004393.6(DAG1):c.885G>A (p.Val295=) rs1463890255
NM_004393.6(DAG1):c.889T>A (p.Trp297Arg)
NM_004393.6(DAG1):c.897C>A (p.Ile299=) rs150365056
NM_004393.6(DAG1):c.909G>C (p.Lys303Asn) rs938467092
NM_004393.6(DAG1):c.914C>T (p.Pro305Leu)
NM_004393.6(DAG1):c.928G>A (p.Val310Ile) rs755258174
NM_004393.6(DAG1):c.939del (p.Ile314fs) rs2107931013
NM_004393.6(DAG1):c.942C>T (p.Ile314=)
NM_004393.6(DAG1):c.944A>G (p.His315Arg)
NM_004393.6(DAG1):c.954_959del (p.317TP[1]) rs2107931254
NM_004393.6(DAG1):c.966T>G (p.Thr322=)
NM_004393.6(DAG1):c.969C>G (p.Ala323=)
NM_004393.6(DAG1):c.971T>C (p.Ile324Thr)
NM_004393.6(DAG1):c.984C>A (p.Thr328=)
NM_004393.6(DAG1):c.98G>T (p.Ser33Ile)
NM_004393.6(DAG1):c.993C>T (p.Ile331=)
NM_005198.5(CHKB):c.-19G>T rs373596637
NM_005198.5(CHKB):c.1001T>C (p.Leu334Pro) rs780983852
NM_005198.5(CHKB):c.1003G>T (p.Glu335Ter) rs2146652075
NM_005198.5(CHKB):c.1005AGA[1] (p.Glu336del)
NM_005198.5(CHKB):c.1012T>G (p.Leu338Val)
NM_005198.5(CHKB):c.1028G>A (p.Ser343Asn) rs1312338081
NM_005198.5(CHKB):c.1030C>T (p.Arg344Trp)
NM_005198.5(CHKB):c.1031+14G>T
NM_005198.5(CHKB):c.1032-10C>T
NM_005198.5(CHKB):c.1032-20T>C
NM_005198.5(CHKB):c.1032-2A>G rs1555894289
NM_005198.5(CHKB):c.1032-2A>T
NM_005198.5(CHKB):c.1032-3dup
NM_005198.5(CHKB):c.104G>C (p.Arg35Pro) rs889845523
NM_005198.5(CHKB):c.1052T>C (p.Phe351Ser) rs2070626951
NM_005198.5(CHKB):c.1056_1058del (p.Phe352_Trp353delinsLeu) rs2070626704
NM_005198.5(CHKB):c.1064T>C (p.Leu355Pro) rs2070626510
NM_005198.5(CHKB):c.106C>T (p.Arg36Trp) rs2070724928
NM_005198.5(CHKB):c.1080G>A (p.Gln360=)
NM_005198.5(CHKB):c.1085C>T (p.Ser362Phe) rs766753256
NM_005198.5(CHKB):c.1086C>G (p.Ser362=)
NM_005198.5(CHKB):c.1088T>C (p.Met363Thr)
NM_005198.5(CHKB):c.1107T>G (p.Gly369=)
NM_005198.5(CHKB):c.1114-14G>A rs756289571
NM_005198.5(CHKB):c.1114-18dup rs2146650367
NM_005198.5(CHKB):c.1114-3T>G rs886057638
NM_005198.5(CHKB):c.1121C>T (p.Ala374Val) rs751958642
NM_005198.5(CHKB):c.1129C>G (p.Arg377Gly) rs766848672
NM_005198.5(CHKB):c.1129C>T (p.Arg377Trp) rs766848672
NM_005198.5(CHKB):c.1137G>A (p.Gln379=) rs1446164666
NM_005198.5(CHKB):c.1157G>A (p.Gly386Glu)
NM_005198.5(CHKB):c.1160A>C (p.Gln387Pro) rs1389494045
NM_005198.5(CHKB):c.1169G>A (p.Ser390Asn)
NM_005198.5(CHKB):c.116C>A (p.Ser39Ter) rs387907068
NM_005198.5(CHKB):c.1179C>G (p.Ser393=)
NM_005198.5(CHKB):c.119C>G (p.Ser40Trp) rs1011397890
NM_005198.5(CHKB):c.119C>T (p.Ser40Leu) rs1011397890
NM_005198.5(CHKB):c.120G>A (p.Ser40=) rs1367743295
NM_005198.5(CHKB):c.123G>A (p.Leu41=) rs2070724453
NM_005198.5(CHKB):c.134C>T (p.Ala45Val)
NM_005198.5(CHKB):c.144A>T (p.Arg48=) rs2070723755
NM_005198.5(CHKB):c.146C>T (p.Ala49Val)
NM_005198.5(CHKB):c.150C>A (p.Tyr50Ter)
NM_005198.5(CHKB):c.153A>G (p.Gln51=)
NM_005198.5(CHKB):c.155G>T (p.Trp52Leu) rs1207178552
NM_005198.5(CHKB):c.159C>T (p.Cys53=) rs907132023
NM_005198.5(CHKB):c.161G>A (p.Arg54Gln)
NM_005198.5(CHKB):c.163G>T (p.Glu55Ter) rs1045370021
NM_005198.5(CHKB):c.165G>A (p.Glu55=)
NM_005198.5(CHKB):c.176G>C (p.Gly59Ala)
NM_005198.5(CHKB):c.183G>T (p.Trp61Cys) rs1603443790
NM_005198.5(CHKB):c.187C>T (p.Arg63Ter)
NM_005198.5(CHKB):c.196C>A (p.Pro66Thr) rs141533752
NM_005198.5(CHKB):c.1A>T (p.Met1Leu) rs1452864281
NM_005198.5(CHKB):c.212T>C (p.Val71Ala) rs1399285509
NM_005198.5(CHKB):c.212T>G (p.Val71Gly) rs1399285509
NM_005198.5(CHKB):c.216C>G (p.Tyr72Ter) rs80067609
NM_005198.5(CHKB):c.217C>T (p.Pro73Ser) rs864309593
NM_005198.5(CHKB):c.21T>A (p.Ala7=)
NM_005198.5(CHKB):c.220G>A (p.Val74Met) rs758217425
NM_005198.5(CHKB):c.220G>C (p.Val74Leu) rs758217425
NM_005198.5(CHKB):c.222G>C (p.Val74=) rs2146658662
NM_005198.5(CHKB):c.224+11A>G
NM_005198.5(CHKB):c.224+1G>A
NM_005198.5(CHKB):c.224+20C>G
NM_005198.5(CHKB):c.225-16T>C
NM_005198.5(CHKB):c.225-17C>G
NM_005198.5(CHKB):c.225-1_225delinsTT
NM_005198.5(CHKB):c.227G>A (p.Gly76Glu)
NM_005198.5(CHKB):c.231C>A (p.Gly77=)
NM_005198.5(CHKB):c.240C>T (p.Asn80=)
NM_005198.5(CHKB):c.244C>G (p.Leu82Val) rs1329658058
NM_005198.5(CHKB):c.255C>T (p.Cys85=) rs1603443779
NM_005198.5(CHKB):c.260T>C (p.Leu87Pro) rs1177999891
NM_005198.5(CHKB):c.261C>T (p.Leu87=) rs2146657812
NM_005198.5(CHKB):c.268del (p.His90fs) rs1569054508
NM_005198.5(CHKB):c.291G>T (p.Glu97Asp)
NM_005198.5(CHKB):c.292C>T (p.Pro98Ser) rs1307581608
NM_005198.5(CHKB):c.296_313del (p.Arg99_Arg104del) rs1177835390
NM_005198.5(CHKB):c.305T>C (p.Leu102Pro) rs2070709347
NM_005198.5(CHKB):c.306T>A (p.Leu102=) rs1603443777
NM_005198.5(CHKB):c.323C>T (p.Ala108Val)
NM_005198.5(CHKB):c.331C>T (p.Gln111Ter)
NM_005198.5(CHKB):c.333+13T>C
NM_005198.5(CHKB):c.333+18G>A
NM_005198.5(CHKB):c.333+19C>T
NM_005198.5(CHKB):c.333+9_333+10del rs2146657605
NM_005198.5(CHKB):c.334-11T>C
NM_005198.5(CHKB):c.334-12A>G
NM_005198.5(CHKB):c.334-17T>C
NM_005198.5(CHKB):c.334-31_334-18del rs1179098662
NM_005198.5(CHKB):c.336C>T (p.Gly112=)
NM_005198.5(CHKB):c.359G>A (p.Ser120Asn) rs2146656856
NM_005198.5(CHKB):c.35G>A (p.Gly12Glu)
NM_005198.5(CHKB):c.373A>G (p.Ile125Val) rs756445442
NM_005198.5(CHKB):c.376C>T (p.Leu126Phe)
NM_005198.5(CHKB):c.382G>T (p.Glu128Ter) rs1569054086
NM_005198.5(CHKB):c.390G>T (p.Ser130=) rs1299502169
NM_005198.5(CHKB):c.392T>C (p.Leu131Pro)
NM_005198.5(CHKB):c.400C>T (p.Gln134Ter) rs1333100080
NM_005198.5(CHKB):c.417C>G (p.Phe139Leu)
NM_005198.5(CHKB):c.428G>C (p.Arg143Pro) rs201257544
NM_005198.5(CHKB):c.437A>G (p.Gln146Arg)
NM_005198.5(CHKB):c.439T>G (p.Tyr147Asp) rs1603443753
NM_005198.5(CHKB):c.442A>G (p.Ile148Val) rs2146656696
NM_005198.5(CHKB):c.444C>A (p.Ile148=)
NM_005198.5(CHKB):c.446del (p.Pro149fs)
NM_005198.5(CHKB):c.447+12G>A rs749454476
NM_005198.5(CHKB):c.447+12G>C rs749454476
NM_005198.5(CHKB):c.447+20C>G
NM_005198.5(CHKB):c.447+5G>C rs371067691
NM_005198.5(CHKB):c.447+9C>G
NM_005198.5(CHKB):c.450T>G (p.Ser150Arg)
NM_005198.5(CHKB):c.452G>C (p.Arg151Pro)
NM_005198.5(CHKB):c.453G>A (p.Arg151=)
NM_005198.5(CHKB):c.458dup (p.Leu153fs) rs786205117
NM_005198.5(CHKB):c.463del (p.Thr155fs) rs2146656234
NM_005198.5(CHKB):c.464C>T (p.Thr155Ile) rs950085207
NM_005198.5(CHKB):c.466C>G (p.Gln156Glu) rs764016359
NM_005198.5(CHKB):c.468A>G (p.Gln156=) rs2070691030
NM_005198.5(CHKB):c.475C>A (p.Arg159=)
NM_005198.5(CHKB):c.485T>C (p.Val162Ala) rs1255195125
NM_005198.5(CHKB):c.493G>C (p.Ala165Pro)
NM_005198.5(CHKB):c.499A>G (p.Ile167Val) rs2146656161
NM_005198.5(CHKB):c.504C>T (p.Ala168=)
NM_005198.5(CHKB):c.512T>C (p.Met171Thr) rs774685301
NM_005198.5(CHKB):c.515C>T (p.Ala172Val)
NM_005198.5(CHKB):c.516G>T (p.Ala172=) rs200220080
NM_005198.5(CHKB):c.519A>G (p.Gln173=)
NM_005198.5(CHKB):c.528C>T (p.Gly176=)
NM_005198.5(CHKB):c.536del (p.Met179fs)
NM_005198.5(CHKB):c.539C>G (p.Pro180Arg) rs757942378
NM_005198.5(CHKB):c.546C>T (p.Thr182=)
NM_005198.5(CHKB):c.556del (p.His186fs)
NM_005198.5(CHKB):c.55G>C (p.Ala19Pro) rs1317692402
NM_005198.5(CHKB):c.565_568del (p.Phe189fs) rs752436924
NM_005198.5(CHKB):c.569G>A (p.Gly190Glu) rs2070688663
NM_005198.5(CHKB):c.577G>A (p.Glu193Lys) rs1555894697
NM_005198.5(CHKB):c.580C>T (p.Arg194Trp) rs763737224
NM_005198.5(CHKB):c.581+7C>G
NM_005198.5(CHKB):c.582-13C>T
NM_005198.5(CHKB):c.582-13_582-11del rs766816072
NM_005198.5(CHKB):c.582-7G>T
NM_005198.5(CHKB):c.58A>C (p.Lys20Gln) rs2146659155
NM_005198.5(CHKB):c.594G>A (p.Gln198=) rs1555894626
NM_005198.5(CHKB):c.598del (p.Gln200fs) rs757369551
NM_005198.5(CHKB):c.613A>G (p.Thr205Ala) rs888546734
NM_005198.5(CHKB):c.619C>T (p.Leu207Phe) rs552898356
NM_005198.5(CHKB):c.61G>A (p.Asp21Asn) rs2070726433
NM_005198.5(CHKB):c.649A>G (p.Ser217Gly)
NM_005198.5(CHKB):c.673C>T (p.Leu225Phe) rs543829328
NM_005198.5(CHKB):c.677+11del
NM_005198.5(CHKB):c.677+18A>G
NM_005198.5(CHKB):c.677+1G>A rs786205118
NM_005198.5(CHKB):c.677+1G>C
NM_005198.5(CHKB):c.677+3G>A rs2146654459
NM_005198.5(CHKB):c.678-16T>A
NM_005198.5(CHKB):c.678-1G>C
NM_005198.5(CHKB):c.678-6C>T
NM_005198.5(CHKB):c.67T>C (p.Leu23=)
NM_005198.5(CHKB):c.696C>T (p.Thr232=) rs750454672
NM_005198.5(CHKB):c.702G>T (p.Ser234=) rs139952595
NM_005198.5(CHKB):c.704C>G (p.Pro235Arg)
NM_005198.5(CHKB):c.704C>T (p.Pro235Leu) rs199847760
NM_005198.5(CHKB):c.714C>G (p.Phe238Leu) rs2070662071
NM_005198.5(CHKB):c.736+11G>A
NM_005198.5(CHKB):c.736+5_736+7del
NM_005198.5(CHKB):c.737-15dup
NM_005198.5(CHKB):c.737-1G>C rs2146653379
NM_005198.5(CHKB):c.737-5C>T
NM_005198.5(CHKB):c.737-6C>T rs1172577845
NM_005198.5(CHKB):c.744C>A (p.Ile248=)
NM_005198.5(CHKB):c.753C>G (p.Leu251=)
NM_005198.5(CHKB):c.75G>A (p.Gln25=)
NM_005198.5(CHKB):c.785T>G (p.Leu262Arg) rs2146653235
NM_005198.5(CHKB):c.808_809insC (p.Tyr270fs) rs2146653193
NM_005198.5(CHKB):c.80A>G (p.Lys27Arg)
NM_005198.5(CHKB):c.810T>A (p.Tyr270Ter) rs750764003
NM_005198.5(CHKB):c.810T>C (p.Tyr270=) rs750764003
NM_005198.5(CHKB):c.818+11A>T
NM_005198.5(CHKB):c.818+19C>T
NM_005198.5(CHKB):c.818+20T>A
NM_005198.5(CHKB):c.818+7C>T
NM_005198.5(CHKB):c.819-15A>T rs1272038088
NM_005198.5(CHKB):c.819-16_819-7del rs2146652864
NM_005198.5(CHKB):c.819-5C>T
NM_005198.5(CHKB):c.819-8T>G
NM_005198.5(CHKB):c.822C>T (p.Gly274=)
NM_005198.5(CHKB):c.834G>A (p.Gly278=)
NM_005198.5(CHKB):c.844dup (p.Cys282fs)
NM_005198.5(CHKB):c.856T>C (p.Tyr286His) rs764474062
NM_005198.5(CHKB):c.860A>C (p.Asp287Ala) rs1569052732
NM_005198.5(CHKB):c.86C>T (p.Pro29Leu)
NM_005198.5(CHKB):c.870C>A (p.His290Gln) rs140020889
NM_005198.5(CHKB):c.871G>A (p.Glu291Lys)
NM_005198.5(CHKB):c.873G>T (p.Glu291Asp)
NM_005198.5(CHKB):c.882T>C (p.Pro294=)
NM_005198.5(CHKB):c.893C>T (p.Ala298Val) rs370202172
NM_005198.5(CHKB):c.910C>A (p.Pro304Thr) rs1410044885
NM_005198.5(CHKB):c.912C>A (p.Pro304=)
NM_005198.5(CHKB):c.922C>T (p.Gln308Ter) rs387907069
NM_005198.5(CHKB):c.924G>A (p.Gln308=) rs1569052662
NM_005198.5(CHKB):c.925C>G (p.Gln309Glu)
NM_005198.5(CHKB):c.925C>T (p.Gln309Ter) rs139059552
NM_005198.5(CHKB):c.927+9G>C
NM_005198.5(CHKB):c.928-20C>A rs1441598274
NM_005198.5(CHKB):c.928-5C>T rs369532290
NM_005198.5(CHKB):c.928-7A>T
NM_005198.5(CHKB):c.939del (p.Arg314fs)
NM_005198.5(CHKB):c.946T>C (p.Tyr316His) rs2070641095
NM_005198.5(CHKB):c.950T>A (p.Leu317Gln)
NM_005198.5(CHKB):c.964_967del (p.Lys322fs) rs771681297
NM_005198.5(CHKB):c.990G>A (p.Glu330=)
NM_005198.5(CHKB):c.991C>G (p.Gln331Glu) rs747586997
NM_005198.5(CHKB):c.9C>T (p.Ala3=)
NM_005572.3(LMNA):c.-225C>A rs886045355
NM_005572.3(LMNA):c.-226C>T rs886045354
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys) rs80338938
NM_005868.6(BET1):c.202G>C (p.Asp68His) rs1562806584
NM_005963.4(MYH1):c.1295A>C (p.Lys432Thr)
NM_006731.2(FKTN):c.*4392_*4393ins[AB185332.1]
NM_006731.2:c.911-24_911-23insN[1200]
NM_006876.2(B4GAT1):[c.1168A>G;c.1217C>T]
NM_006876.3(B4GAT1):c.1018G>A (p.Glu340Lys) rs1441553616
NM_006876.3(B4GAT1):c.1045C>A (p.Arg349=) rs377282346
NM_006876.3(B4GAT1):c.1056+11G>A
NM_006876.3(B4GAT1):c.1056+15G>A
NM_006876.3(B4GAT1):c.1056+17G>A
NM_006876.3(B4GAT1):c.1056+6C>G rs1555016387
NM_006876.3(B4GAT1):c.1057-13T>C
NM_006876.3(B4GAT1):c.1060T>C (p.Cys354Arg) rs2134973952
NM_006876.3(B4GAT1):c.1062C>T (p.Cys354=)
NM_006876.3(B4GAT1):c.1067T>C (p.Leu356Pro) rs878853035
NM_006876.3(B4GAT1):c.1074G>A (p.Val358=) rs768782904
NM_006876.3(B4GAT1):c.1077G>A (p.Ala359=) rs144759932
NM_006876.3(B4GAT1):c.1077G>C (p.Ala359=) rs144759932
NM_006876.3(B4GAT1):c.1089dup (p.Glu364Ter)
NM_006876.3(B4GAT1):c.108G>A (p.Leu36=) rs2134975722
NM_006876.3(B4GAT1):c.1096C>A (p.Leu366Met) rs898632587
NM_006876.3(B4GAT1):c.1116T>G (p.Val372=) rs1590633382
NM_006876.3(B4GAT1):c.1118A>T (p.His373Leu)
NM_006876.3(B4GAT1):c.1122G>A (p.Lys374=) rs754282235
NM_006876.3(B4GAT1):c.1137G>A (p.Ala379=)
NM_006876.3(B4GAT1):c.1151C>G (p.Pro384Arg) rs1443678248
NM_006876.3(B4GAT1):c.1152C>G (p.Pro384=)
NM_006876.3(B4GAT1):c.1152C>T (p.Pro384=) rs767119927
NM_006876.3(B4GAT1):c.1176C>T (p.His392=) rs375281337
NM_006876.3(B4GAT1):c.1200C>G (p.Phe400Leu)
NM_006876.3(B4GAT1):c.1207G>T (p.Glu403Ter) rs921785357
NM_006876.3(B4GAT1):c.1240C>T (p.Arg414Cys) rs562459083
NM_006876.3(B4GAT1):c.132A>G (p.Gln44=) rs749485530
NM_006876.3(B4GAT1):c.133T>C (p.Tyr45His) rs780415381
NM_006876.3(B4GAT1):c.151C>T (p.Pro51Ser) rs1272704626
NM_006876.3(B4GAT1):c.153G>A (p.Pro51=) rs2134975644
NM_006876.3(B4GAT1):c.157C>T (p.Pro53Ser) rs1000733603
NM_006876.3(B4GAT1):c.162G>A (p.Arg54=) rs751180898
NM_006876.3(B4GAT1):c.170A>C (p.Asp57Ala) rs1555016653
NM_006876.3(B4GAT1):c.173A>G (p.Gln58Arg) rs1555016650
NM_006876.3(B4GAT1):c.185A>G (p.Gln62Arg) rs529539963
NM_006876.3(B4GAT1):c.237C>T (p.Tyr79=)
NM_006876.3(B4GAT1):c.240C>T (p.Arg80=)
NM_006876.3(B4GAT1):c.248G>T (p.Arg83Met)
NM_006876.3(B4GAT1):c.271G>A (p.Asp91Asn) rs1855236030
NM_006876.3(B4GAT1):c.292G>A (p.Ala98Thr)
NM_006876.3(B4GAT1):c.2T>C (p.Met1Thr) rs1855240969
NM_006876.3(B4GAT1):c.324C>T (p.His108=)
NM_006876.3(B4GAT1):c.327G>T (p.Leu109=) rs752090290
NM_006876.3(B4GAT1):c.330G>A (p.Ser110=)
NM_006876.3(B4GAT1):c.342G>A (p.Glu114=)
NM_006876.3(B4GAT1):c.363C>G (p.Ser121=) rs947725699
NM_006876.3(B4GAT1):c.377C>T (p.Ala126Val) rs1161795181
NM_006876.3(B4GAT1):c.409G>A (p.Val137Met) rs376914969
NM_006876.3(B4GAT1):c.415G>T (p.Ala139Ser) rs1565209689
NM_006876.3(B4GAT1):c.420C>T (p.Tyr140=) rs1163789115
NM_006876.3(B4GAT1):c.441C>G (p.Pro147=) rs1590634309
NM_006876.3(B4GAT1):c.447G>C (p.Met149Ile) rs374533716
NM_006876.3(B4GAT1):c.447G>T (p.Met149Ile) rs374533716
NM_006876.3(B4GAT1):c.460G>T (p.Ala154Ser) rs1555016589
NM_006876.3(B4GAT1):c.471C>T (p.Leu157=)
NM_006876.3(B4GAT1):c.480C>G (p.Pro160=)
NM_006876.3(B4GAT1):c.485G>A (p.Arg162His) rs1565209634
NM_006876.3(B4GAT1):c.506A>T (p.Asp169Val) rs1855229583
NM_006876.3(B4GAT1):c.514G>C (p.Glu172Gln) rs761732914
NM_006876.3(B4GAT1):c.521G>T (p.Gly174Val) rs771427950
NM_006876.3(B4GAT1):c.553G>A (p.Val185Ile) rs1855227445
NM_006876.3(B4GAT1):c.572G>A (p.Arg191Lys)
NM_006876.3(B4GAT1):c.576G>A (p.Val192=)
NM_006876.3(B4GAT1):c.582G>A (p.Gln194=)
NM_006876.3(B4GAT1):c.583C>T (p.Pro195Ser)
NM_006876.3(B4GAT1):c.590T>G (p.Ile197Ser)
NM_006876.3(B4GAT1):c.600G>A (p.Ala200=)
NM_006876.3(B4GAT1):c.603G>C (p.Leu201=) rs2134974950
NM_006876.3(B4GAT1):c.612T>G (p.Asn204Lys)
NM_006876.3(B4GAT1):c.630C>T (p.Asn210=)
NM_006876.3(B4GAT1):c.646G>C (p.Ala216Pro)
NM_006876.3(B4GAT1):c.675G>A (p.Val225=)
NM_006876.3(B4GAT1):c.678C>A (p.Ile226=)
NM_006876.3(B4GAT1):c.679G>A (p.Asp227Asn) rs1288080924
NM_006876.3(B4GAT1):c.688A>C (p.Met230Leu) rs774850290
NM_006876.3(B4GAT1):c.688A>G (p.Met230Val) rs774850290
NM_006876.3(B4GAT1):c.699C>A (p.Ser233Arg) rs768060657
NM_006876.3(B4GAT1):c.69G>T (p.Ala23=)
NM_006876.3(B4GAT1):c.717C>G (p.Gly239=)
NM_006876.3(B4GAT1):c.748dup (p.Trp250fs) rs1379626331
NM_006876.3(B4GAT1):c.771G>A (p.Val257=)
NM_006876.3(B4GAT1):c.775G>A (p.Ala259Thr) rs766537591
NM_006876.3(B4GAT1):c.780C>G (p.Phe260Leu) rs1319732212
NM_006876.3(B4GAT1):c.787C>G (p.Arg263Gly) rs2134974665
NM_006876.3(B4GAT1):c.796C>T (p.Arg266Cys) rs1455459346
NM_006876.3(B4GAT1):c.79C>A (p.Leu27Met)
NM_006876.3(B4GAT1):c.79C>T (p.Leu27=)
NM_006876.3(B4GAT1):c.819C>G (p.Asn273Lys)
NM_006876.3(B4GAT1):c.821_822insTT (p.Glu274fs) rs730882237
NM_006876.3(B4GAT1):c.828G>A (p.Val276=) rs142956522
NM_006876.3(B4GAT1):c.835T>C (p.Tyr279His) rs1855220609
NM_006876.3(B4GAT1):c.837C>T (p.Tyr279=)
NM_006876.3(B4GAT1):c.838C>A (p.Gln280Lys) rs1187161687
NM_006876.3(B4GAT1):c.85T>G (p.Tyr29Asp)
NM_006876.3(B4GAT1):c.864T>A (p.Tyr288Ter)
NM_006876.3(B4GAT1):c.870G>A (p.Gly290=) rs2134974531
NM_006876.3(B4GAT1):c.872T>G (p.Leu291Trp)
NM_006876.3(B4GAT1):c.888G>A (p.Gln296=)
NM_006876.3(B4GAT1):c.89T>C (p.Leu30Pro)
NM_006876.3(B4GAT1):c.955G>C (p.Val319Leu) rs2134974418
NM_006876.3(B4GAT1):c.980C>A (p.Pro327Gln) rs1555016420
NM_006876.3(B4GAT1):c.984C>T (p.Phe328=) rs368961025
NM_007171.4(POMT1):c.429_430del
NM_013382.5(POMT2):c.1170_1171del rs764210532
NM_013382.5(POMT2):c.[1170_1171delTA];[1261C>T]
NM_013382.7(POMT2):c.*103C>T rs886050825
NM_013382.7(POMT2):c.*1043C>T rs373396403
NM_013382.7(POMT2):c.*1317A>G rs144329117
NM_013382.7(POMT2):c.*1317A>T rs144329117
NM_013382.7(POMT2):c.*1474G>A rs749841763
NM_013382.7(POMT2):c.*15T>C rs538140316
NM_013382.7(POMT2):c.*1610T>C rs886050814
NM_013382.7(POMT2):c.*1641C>T rs151201281
NM_013382.7(POMT2):c.*1734A>C rs1889915019
NM_013382.7(POMT2):c.*1774C>T rs1889911263
NM_013382.7(POMT2):c.*186C>G rs547018226
NM_013382.7(POMT2):c.*1893G>A rs114623446
NM_013382.7(POMT2):c.*1906G>A rs1429067153
NM_013382.7(POMT2):c.*2077T>C rs1889895782
NM_013382.7(POMT2):c.*2080G>A rs1889895704
NM_013382.7(POMT2):c.*2093A>G rs528818473
NM_013382.7(POMT2):c.*2151A>G rs45579739
NM_013382.7(POMT2):c.*574T>C rs574135706
NM_013382.7(POMT2):c.*594G>A rs886050821
NM_013382.7(POMT2):c.*605C>G rs186897393
NM_013382.7(POMT2):c.*605C>T rs186897393
NM_013382.7(POMT2):c.-113G>A rs1891868176
NM_013382.7(POMT2):c.-136G>A rs1891870150
NM_013382.7(POMT2):c.-172C>A rs897215490
NM_013382.7(POMT2):c.-176C>G rs978645827
NM_013382.7(POMT2):c.-47_-44del rs368351148
NM_013382.7(POMT2):c.1000C>T (p.Pro334Ser) rs1890916653
NM_013382.7(POMT2):c.1006+16C>G
NM_013382.7(POMT2):c.1006+4_1006+7del rs1594794303
NM_013382.7(POMT2):c.1006+9C>T
NM_013382.7(POMT2):c.1006C>A (p.His336Asn) rs765103940
NM_013382.7(POMT2):c.1007-11C>G
NM_013382.7(POMT2):c.1007-12C>T
NM_013382.7(POMT2):c.1007-13C>G
NM_013382.7(POMT2):c.1007-15C>T
NM_013382.7(POMT2):c.1007-17G>C
NM_013382.7(POMT2):c.1007-20G>A
NM_013382.7(POMT2):c.1007-20G>T
NM_013382.7(POMT2):c.1007-9T>G
NM_013382.7(POMT2):c.1009C>T (p.Leu337=) rs777184206
NM_013382.7(POMT2):c.1012G>A (p.Ala338Thr) rs771636400
NM_013382.7(POMT2):c.102C>G (p.Ala34=) rs886044233
NM_013382.7(POMT2):c.1030A>C (p.Thr344Pro) rs1285454398
NM_013382.7(POMT2):c.1034_1035del (p.Val345fs) rs1890825132
NM_013382.7(POMT2):c.1040A>C (p.Asn347Thr) rs371158744
NM_013382.7(POMT2):c.1044C>T (p.Leu348=) rs267604062
NM_013382.7(POMT2):c.1045C>G (p.Arg349Gly) rs141339355
NM_013382.7(POMT2):c.1046_1052del (p.Arg349fs)
NM_013382.7(POMT2):c.1048A>G (p.Met350Val) rs749883166
NM_013382.7(POMT2):c.1051del (p.Ala351fs)
NM_013382.7(POMT2):c.1056C>T (p.Ile352=)
NM_013382.7(POMT2):c.1071C>G (p.Ser357=)
NM_013382.7(POMT2):c.1074C>T (p.His358=)
NM_013382.7(POMT2):c.1077G>A (p.Arg359=)
NM_013382.7(POMT2):c.1088C>T (p.Pro363Leu) rs2140218751
NM_013382.7(POMT2):c.1103C>T (p.Ala368Val) rs1890820771
NM_013382.7(POMT2):c.1105C>A (p.Arg369Ser)
NM_013382.7(POMT2):c.1108C>A (p.Gln370Lys)
NM_013382.7(POMT2):c.1110G>A (p.Gln370=)
NM_013382.7(POMT2):c.1116+10C>T
NM_013382.7(POMT2):c.1116+17T>C
NM_013382.7(POMT2):c.1116+8A>C
NM_013382.7(POMT2):c.1117-11C>T
NM_013382.7(POMT2):c.1117-12C>A rs535647699
NM_013382.7(POMT2):c.1117-12C>G rs535647699
NM_013382.7(POMT2):c.1117-12C>T
NM_013382.7(POMT2):c.1117-14C>A
NM_013382.7(POMT2):c.1117-16CCCACCC[3]
NM_013382.7(POMT2):c.1117-17C>G
NM_013382.7(POMT2):c.1117-19G>A
NM_013382.7(POMT2):c.1117-19G>T
NM_013382.7(POMT2):c.1117-7C>A
NM_013382.7(POMT2):c.1117-7C>G rs201921627
NM_013382.7(POMT2):c.1117-7C>T rs201921627
NM_013382.7(POMT2):c.1117-7del
NM_013382.7(POMT2):c.1117G>C (p.Val373Leu)
NM_013382.7(POMT2):c.1117G>T (p.Val373Phe) rs267606965
NM_013382.7(POMT2):c.1119C>T (p.Val373=)
NM_013382.7(POMT2):c.1123_1124dup (p.Tyr376fs) rs886042401
NM_013382.7(POMT2):c.1130T>A (p.Leu377Ter)
NM_013382.7(POMT2):c.1133A>G (p.His378Arg) rs867000155
NM_013382.7(POMT2):c.1137G>A (p.Lys379=)
NM_013382.7(POMT2):c.1150C>T (p.Leu384=)
NM_013382.7(POMT2):c.1158dup (p.Ile387fs)
NM_013382.7(POMT2):c.1169A>C (p.His390Pro)
NM_013382.7(POMT2):c.1179C>T (p.Asn393=)
NM_013382.7(POMT2):c.1183+11C>T
NM_013382.7(POMT2):c.1183+13G>A rs2140203548
NM_013382.7(POMT2):c.1183+1G>A
NM_013382.7(POMT2):c.1184-11C>G
NM_013382.7(POMT2):c.1184-12T>A
NM_013382.7(POMT2):c.1184-19G>C
NM_013382.7(POMT2):c.1184-1G>C
NM_013382.7(POMT2):c.1184-5G>T
NM_013382.7(POMT2):c.1187C>T (p.Pro396Leu)
NM_013382.7(POMT2):c.1189C>G (p.Leu397Val)
NM_013382.7(POMT2):c.118C>G (p.Arg40Gly) rs755650000
NM_013382.7(POMT2):c.118C>T (p.Arg40Ter)
NM_013382.7(POMT2):c.118_119del (p.Arg40fs)
NM_013382.7(POMT2):c.1206A>G (p.Pro402=)
NM_013382.7(POMT2):c.1210G>A (p.Glu404Lys) rs2140195392
NM_013382.7(POMT2):c.1221A>G (p.Arg407=) rs1594787171
NM_013382.7(POMT2):c.1223A>G (p.His408Arg) rs1594787166
NM_013382.7(POMT2):c.1231A>G (p.Ile411Val)
NM_013382.7(POMT2):c.1231A>T (p.Ile411Phe)
NM_013382.7(POMT2):c.1238G>A (p.Arg413Gln) rs190285831
NM_013382.7(POMT2):c.1239A>C (p.Arg413=)
NM_013382.7(POMT2):c.1243G>T (p.Glu415Ter)
NM_013382.7(POMT2):c.1248C>G (p.His416Gln) rs1566649375
NM_013382.7(POMT2):c.1253+13G>T
NM_013382.7(POMT2):c.1253+16del
NM_013382.7(POMT2):c.1254-13_1254-12del rs2140188664
NM_013382.7(POMT2):c.1254-16C>G
NM_013382.7(POMT2):c.1254-2A>G
NM_013382.7(POMT2):c.1254-3T>C rs766683771
NM_013382.7(POMT2):c.1254-6T>G
NM_013382.7(POMT2):c.1254-9A>G rs1594890973
NM_013382.7(POMT2):c.1261C>A (p.Arg421=)
NM_013382.7(POMT2):c.1261del (p.Arg421fs) rs587777815
NM_013382.7(POMT2):c.1265A>G (p.Asn422Ser) rs2140188544
NM_013382.7(POMT2):c.1271A>G (p.His424Arg) rs1359158673
NM_013382.7(POMT2):c.1272C>T (p.His424=) rs1328987547
NM_013382.7(POMT2):c.127A>T (p.Lys43Ter)
NM_013382.7(POMT2):c.1282_1284del (p.His428del) rs1594890912
NM_013382.7(POMT2):c.1291C>T (p.Pro431Ser)
NM_013382.7(POMT2):c.1293C>T (p.Pro431=)
NM_013382.7(POMT2):c.1293dup (p.Met432fs) rs1555352706
NM_013382.7(POMT2):c.129_131del (p.Arg44del)
NM_013382.7(POMT2):c.12C>T (p.Ala4=)
NM_013382.7(POMT2):c.1300del (p.Arg434fs) rs2140188352
NM_013382.7(POMT2):c.1301G>A (p.Arg434Gln)
NM_013382.7(POMT2):c.130C>A (p.Arg44=) rs2139551017
NM_013382.7(POMT2):c.1310A>G (p.Tyr437Cys)
NM_013382.7(POMT2):c.1311T>G (p.Tyr437Ter)
NM_013382.7(POMT2):c.1317C>T (p.Val439=) rs898725472
NM_013382.7(POMT2):c.1329_1332+5del rs1566648219
NM_013382.7(POMT2):c.1332+10C>A
NM_013382.7(POMT2):c.1332+10del
NM_013382.7(POMT2):c.1332+12A>G
NM_013382.7(POMT2):c.1332+17G>A
NM_013382.7(POMT2):c.1332+19T>C
NM_013382.7(POMT2):c.1332+19T>G rs1057522317
NM_013382.7(POMT2):c.1332+20G>A
NM_013382.7(POMT2):c.1332+6_1332+9del rs781093215
NM_013382.7(POMT2):c.1332+8A>C
NM_013382.7(POMT2):c.1333-14G>A rs918556979
NM_013382.7(POMT2):c.1333-16T>C
NM_013382.7(POMT2):c.1333-17C>A
NM_013382.7(POMT2):c.1333-6T>C
NM_013382.7(POMT2):c.133C>G (p.Pro45Ala) rs780976004
NM_013382.7(POMT2):c.1341_1342del (p.Asp449fs)
NM_013382.7(POMT2):c.1348T>G (p.Ser450Ala)
NM_013382.7(POMT2):c.134C>G (p.Pro45Arg) rs753037500
NM_013382.7(POMT2):c.134C>T (p.Pro45Leu) rs753037500
NM_013382.7(POMT2):c.1350A>T (p.Ser450=) rs750632019
NM_013382.7(POMT2):c.135T>A (p.Pro45=) rs1891844737
NM_013382.7(POMT2):c.1367T>C (p.Ile456Thr) rs1890397099
NM_013382.7(POMT2):c.1371G>A (p.Glu457=)
NM_013382.7(POMT2):c.1374C>T (p.Val458=)
NM_013382.7(POMT2):c.1382G>A (p.Arg461Lys) rs1030338170
NM_013382.7(POMT2):c.1385A>G (p.Lys462Arg)
NM_013382.7(POMT2):c.138T>C (p.Ala46=)
NM_013382.7(POMT2):c.1394A>G (p.Asn465Ser)
NM_013382.7(POMT2):c.1396C>A (p.Arg466=) rs763119319
NM_013382.7(POMT2):c.139_145del (p.Trp47fs)
NM_013382.7(POMT2):c.13A>T (p.Thr5Ser) rs1891858162
NM_013382.7(POMT2):c.1412_1413dup (p.Ser472fs)
NM_013382.7(POMT2):c.1413_1414del (p.Arg473fs)
NM_013382.7(POMT2):c.141G>A (p.Trp47Ter)
NM_013382.7(POMT2):c.1423C>A (p.Arg475Ser) rs746000047
NM_013382.7(POMT2):c.1426T>C (p.Phe476Leu) rs727502856
NM_013382.7(POMT2):c.1445G>T (p.Gly482Val) rs267606968
NM_013382.7(POMT2):c.1452C>T (p.Val484=)
NM_013382.7(POMT2):c.1453C>T (p.Leu485=)
NM_013382.7(POMT2):c.1461C>T (p.Ser487=)
NM_013382.7(POMT2):c.1464G>A (p.Ser488=) rs375698520
NM_013382.7(POMT2):c.1464G>T (p.Ser488=)
NM_013382.7(POMT2):c.1467A>T (p.Gly489=) rs1555352583
NM_013382.7(POMT2):c.1471G>C (p.Val491Leu)
NM_013382.7(POMT2):c.1479C>T (p.Pro493=) rs769462000
NM_013382.7(POMT2):c.1480A>G (p.Lys494Glu)
NM_013382.7(POMT2):c.1482G>A (p.Lys494=)
NM_013382.7(POMT2):c.1484+13G>A
NM_013382.7(POMT2):c.1484+19G>T
NM_013382.7(POMT2):c.1484+1G>A
NM_013382.7(POMT2):c.1484+1_1484+3dup rs1890389214
NM_013382.7(POMT2):c.1484+5G>A
NM_013382.7(POMT2):c.1484+7C>T
NM_013382.7(POMT2):c.1485-14T>C
NM_013382.7(POMT2):c.1485-20G>A
NM_013382.7(POMT2):c.148C>T (p.Arg50Trp) rs550420394
NM_013382.7(POMT2):c.1494G>A (p.Glu498=)
NM_013382.7(POMT2):c.1495C>T (p.Gln499Ter)
NM_013382.7(POMT2):c.14C>G (p.Thr5Arg) rs760413289
NM_013382.7(POMT2):c.1527A>G (p.Lys509=)
NM_013382.7(POMT2):c.1536C>T (p.Leu512=)
NM_013382.7(POMT2):c.1538A>G (p.Asn513Ser)
NM_013382.7(POMT2):c.1539C>T (p.Asn513=)
NM_013382.7(POMT2):c.153C>T (p.Arg51=)
NM_013382.7(POMT2):c.1540T>A (p.Ser514Thr) rs1566647081
NM_013382.7(POMT2):c.1555G>T (p.Glu519Ter) rs1379963762
NM_013382.7(POMT2):c.1568A>G (p.Asn523Ser) rs886042386
NM_013382.7(POMT2):c.1568A>T (p.Asn523Ile) rs886042386
NM_013382.7(POMT2):c.1570C>T (p.Pro524Ser) rs1421956619
NM_013382.7(POMT2):c.1571C>T (p.Pro524Leu)
NM_013382.7(POMT2):c.1574A>C (p.Lys525Thr) rs767137783
NM_013382.7(POMT2):c.1576+10G>T rs756884609
NM_013382.7(POMT2):c.1576+13A>G
NM_013382.7(POMT2):c.1576+14C>T
NM_013382.7(POMT2):c.1576+20G>A
NM_013382.7(POMT2):c.1576+5G>A rs2140182723
NM_013382.7(POMT2):c.1577-19C>T
NM_013382.7(POMT2):c.1577-7C>T
NM_013382.7(POMT2):c.1577-8T>C
NM_013382.7(POMT2):c.1577-8del rs749856419
NM_013382.7(POMT2):c.1577-8dup
NM_013382.7(POMT2):c.1577T>A (p.Leu526Ter)
NM_013382.7(POMT2):c.1593G>C (p.Leu531=)
NM_013382.7(POMT2):c.1599G>A (p.Val533=) rs768426838
NM_013382.7(POMT2):c.1604A>T (p.Gln535Leu) rs147882035
NM_013382.7(POMT2):c.160G>A (p.Ala54Thr)
NM_013382.7(POMT2):c.1621A>G (p.Ile541Val) rs2140179545
NM_013382.7(POMT2):c.1627C>G (p.Leu543Val)
NM_013382.7(POMT2):c.162G>C (p.Ala54=) rs2270420
NM_013382.7(POMT2):c.1635C>T (p.Ser545=)
NM_013382.7(POMT2):c.1637A>C (p.His546Pro)
NM_013382.7(POMT2):c.1638C>T (p.His546=) rs2140179482
NM_013382.7(POMT2):c.163dup (p.Val55fs)
NM_013382.7(POMT2):c.1645A>G (p.Met549Val) rs1555352401
NM_013382.7(POMT2):c.1653+10C>T
NM_013382.7(POMT2):c.1653+11C>A
NM_013382.7(POMT2):c.1653+14T>C
NM_013382.7(POMT2):c.1653+17C>T rs1268392742
NM_013382.7(POMT2):c.1653+20T>G
NM_013382.7(POMT2):c.1654-11C>T
NM_013382.7(POMT2):c.1654-12A>G
NM_013382.7(POMT2):c.1654-15G>C
NM_013382.7(POMT2):c.1654-2A>T
NM_013382.7(POMT2):c.1654-5T>C rs1594885955
NM_013382.7(POMT2):c.1654-5T>G
NM_013382.7(POMT2):c.1654-6A>C
NM_013382.7(POMT2):c.1654-7C>A rs578133776
NM_013382.7(POMT2):c.1655G>A (p.Gly552Glu)
NM_013382.7(POMT2):c.1658dup (p.Asn553fs) rs886043110
NM_013382.7(POMT2):c.1661del (p.Ser554fs)
NM_013382.7(POMT2):c.1664G>T (p.Gly555Val)
NM_013382.7(POMT2):c.1666C>T (p.Leu556Phe) rs1890178718
NM_013382.7(POMT2):c.1668C>G (p.Leu556=)
NM_013382.7(POMT2):c.1671A>G (p.Lys557=)
NM_013382.7(POMT2):c.1673C>T (p.Pro558Leu) rs2140169524
NM_013382.7(POMT2):c.1674C>T (p.Pro558=)
NM_013382.7(POMT2):c.168C>T (p.Gly56=) rs2139550502
NM_013382.7(POMT2):c.16G>A (p.Gly6Ser) rs751918638
NM_013382.7(POMT2):c.1704G>A (p.Trp568Ter)
NM_013382.7(POMT2):c.1706_1712del (p.His569fs) rs2140169285
NM_013382.7(POMT2):c.1709G>T (p.Trp570Leu) rs910353997
NM_013382.7(POMT2):c.1712dup (p.Ile572fs) rs780725241
NM_013382.7(POMT2):c.1713T>C (p.Pro571=)
NM_013382.7(POMT2):c.1721A>C (p.Tyr574Ser) rs142870987
NM_013382.7(POMT2):c.1721A>G (p.Tyr574Cys) rs142870987
NM_013382.7(POMT2):c.1725+11A>G
NM_013382.7(POMT2):c.1725+13G>C rs1890173997
NM_013382.7(POMT2):c.1725+14C>G
NM_013382.7(POMT2):c.1725+15T>C
NM_013382.7(POMT2):c.1725+17G>A
NM_013382.7(POMT2):c.1725+18G>C
NM_013382.7(POMT2):c.1725+19G>A
NM_013382.7(POMT2):c.1725+8C>G
NM_013382.7(POMT2):c.1726-11C>G
NM_013382.7(POMT2):c.1726-11C>T
NM_013382.7(POMT2):c.1726-19G>T rs530158780
NM_013382.7(POMT2):c.1726-1dup rs1229291913
NM_013382.7(POMT2):c.1726-20G>A
NM_013382.7(POMT2):c.1726-8T>C
NM_013382.7(POMT2):c.1726-9A>T rs747493997
NM_013382.7(POMT2):c.1730T>A (p.Leu577Gln)
NM_013382.7(POMT2):c.1738T>C (p.Ser580Pro) rs370529777
NM_013382.7(POMT2):c.1740A>C (p.Ser580=)
NM_013382.7(POMT2):c.1740_1741del (p.Val582fs)
NM_013382.7(POMT2):c.1744G>T (p.Val582Phe)
NM_013382.7(POMT2):c.1746C>A (p.Val582=)
NM_013382.7(POMT2):c.1749T>C (p.Asn583=) rs1416940075
NM_013382.7(POMT2):c.1754_1755del (p.Thr585fs) rs1555351894
NM_013382.7(POMT2):c.1767C>G (p.Val589=)
NM_013382.7(POMT2):c.1768T>C (p.Tyr590His) rs2140167504
NM_013382.7(POMT2):c.1768dup (p.Tyr590fs)
NM_013382.7(POMT2):c.1774C>T (p.Leu592Phe)
NM_013382.7(POMT2):c.1776T>G (p.Leu592=)
NM_013382.7(POMT2):c.1781A>G (p.Asn594Ser)
NM_013382.7(POMT2):c.1782C>T (p.Asn594=)
NM_013382.7(POMT2):c.1785+15A>G
NM_013382.7(POMT2):c.1785+17T>G
NM_013382.7(POMT2):c.1785+6dup
NM_013382.7(POMT2):c.1785+7G>A
NM_013382.7(POMT2):c.1785+8C>T
NM_013382.7(POMT2):c.1786-15C>G
NM_013382.7(POMT2):c.1786-2A>T
NM_013382.7(POMT2):c.1786-4A>G
NM_013382.7(POMT2):c.1786-7T>C
NM_013382.7(POMT2):c.1793G>A (p.Trp598Ter) rs1566644018
NM_013382.7(POMT2):c.1800G>C (p.Leu600=)
NM_013382.7(POMT2):c.1800G>T (p.Leu600=) rs757165656
NM_013382.7(POMT2):c.1803T>C (p.Asn601=)
NM_013382.7(POMT2):c.180G>C (p.Leu60=)
NM_013382.7(POMT2):c.1815C>T (p.Ile605=)
NM_013382.7(POMT2):c.1816G>A (p.Ala606Thr)
NM_013382.7(POMT2):c.1818C>T (p.Ala606=)
NM_013382.7(POMT2):c.1822T>C (p.Tyr608His)
NM_013382.7(POMT2):c.1828C>T (p.Leu610Phe) rs1555351859
NM_013382.7(POMT2):c.1839C>T (p.Ser613=) rs1400122508
NM_013382.7(POMT2):c.1841T>A (p.Ile614Asn)
NM_013382.7(POMT2):c.1846G>A (p.Ala616Thr)
NM_013382.7(POMT2):c.1854C>G (p.Ala618=) rs1407950406
NM_013382.7(POMT2):c.1854C>T (p.Ala618=) rs1407950406
NM_013382.7(POMT2):c.1855A>G (p.Met619Val) rs1890143383
NM_013382.7(POMT2):c.1857G>C (p.Met619Ile) rs1594885046
NM_013382.7(POMT2):c.1875G>C (p.Leu625=)
NM_013382.7(POMT2):c.1885G>A (p.Val629Ile) rs777708372
NM_013382.7(POMT2):c.1888G>T (p.Ala630Ser) rs111857094
NM_013382.7(POMT2):c.188del (p.Leu63fs)
NM_013382.7(POMT2):c.1891+12T>G
NM_013382.7(POMT2):c.1891+13G>A rs2140166262
NM_013382.7(POMT2):c.1891+14G>A
NM_013382.7(POMT2):c.1891+15G>T
NM_013382.7(POMT2):c.1891+16C>T
NM_013382.7(POMT2):c.1891+1G>C
NM_013382.7(POMT2):c.1891+2T>C rs1594884932
NM_013382.7(POMT2):c.1892-14C>G
NM_013382.7(POMT2):c.1892-15G>A
NM_013382.7(POMT2):c.1892-16T>C
NM_013382.7(POMT2):c.1892-1G>C
NM_013382.7(POMT2):c.1892-5C>T
NM_013382.7(POMT2):c.1902G>A (p.Gln634=) rs1594883867
NM_013382.7(POMT2):c.1908G>A (p.Leu636=)
NM_013382.7(POMT2):c.1909C>T (p.Leu637Phe) rs2140162404
NM_013382.7(POMT2):c.190G>T (p.Val64Leu)
NM_013382.7(POMT2):c.1911_1912delinsGT (p.Arg638Ter)
NM_013382.7(POMT2):c.1911_1934del (p.Arg638_Leu645del)
NM_013382.7(POMT2):c.1917A>G (p.Gly639=)
NM_013382.7(POMT2):c.1926G>A (p.Gln642=)
NM_013382.7(POMT2):c.1927G>A (p.Val643Ile)
NM_013382.7(POMT2):c.1927_1943del (p.Val643fs)
NM_013382.7(POMT2):c.1935C>A (p.Leu645=) rs141193672
NM_013382.7(POMT2):c.1941G>A (p.Trp647Ter) rs267606963
NM_013382.7(POMT2):c.1944A>C (p.Thr648=)
NM_013382.7(POMT2):c.1953C>T (p.Tyr651=)
NM_013382.7(POMT2):c.1958C>T (p.Pro653Leu) rs794727228
NM_013382.7(POMT2):c.1959G>T (p.Pro653=)
NM_013382.7(POMT2):c.1967del (p.Leu656fs)
NM_013382.7(POMT2):c.1981del (p.Leu661fs)
NM_013382.7(POMT2):c.1983C>T (p.Leu661=) rs1057523411
NM_013382.7(POMT2):c.1986C>T (p.Tyr662=)
NM_013382.7(POMT2):c.198G>C (p.Leu66=)
NM_013382.7(POMT2):c.1992C>T (p.His664=) rs143329994
NM_013382.7(POMT2):c.1995C>T (p.His665=)
NM_013382.7(POMT2):c.1998C>T (p.Tyr666=)
NM_013382.7(POMT2):c.2001C>G (p.Phe667Leu)
NM_013382.7(POMT2):c.2004A>C (p.Pro668=) rs750930174
NM_013382.7(POMT2):c.2021dup (p.Ser674fs)
NM_013382.7(POMT2):c.2022C>T (p.Ser674=) rs1566642798
NM_013382.7(POMT2):c.2023A>G (p.Met675Val) rs2140161882
NM_013382.7(POMT2):c.2024T>C (p.Met675Thr)
NM_013382.7(POMT2):c.2030C>A (p.Thr677Lys) rs2140161863
NM_013382.7(POMT2):c.2030C>T (p.Thr677Ile)
NM_013382.7(POMT2):c.2032+14A>C
NM_013382.7(POMT2):c.2032+15C>T rs1380951819
NM_013382.7(POMT2):c.2032+19G>T rs1300533131
NM_013382.7(POMT2):c.2032+1G>A rs2140161850
NM_013382.7(POMT2):c.2032+20_2032+25del
NM_013382.7(POMT2):c.2032+8C>T
NM_013382.7(POMT2):c.2033-11C>T
NM_013382.7(POMT2):c.2033-14C>G
NM_013382.7(POMT2):c.2033-14C>T
NM_013382.7(POMT2):c.2033-15T>C
NM_013382.7(POMT2):c.2033-18T>C
NM_013382.7(POMT2):c.2033-7C>A
NM_013382.7(POMT2):c.2034C>T (p.Gly678=)
NM_013382.7(POMT2):c.2035A>G (p.Ile679Val)
NM_013382.7(POMT2):c.2048C>A (p.Thr683Asn)
NM_013382.7(POMT2):c.2049C>T (p.Thr683=)
NM_013382.7(POMT2):c.2055G>A (p.Leu685=)
NM_013382.7(POMT2):c.2061C>T (p.Leu687=)
NM_013382.7(POMT2):c.2064T>A (p.Cys688Ter)
NM_013382.7(POMT2):c.2074T>C (p.Leu692=)
NM_013382.7(POMT2):c.2079C>T (p.Ala693=)
NM_013382.7(POMT2):c.2082A>C (p.Ser694=)
NM_013382.7(POMT2):c.2082A>G (p.Ser694=)
NM_013382.7(POMT2):c.2082A>T (p.Ser694=)
NM_013382.7(POMT2):c.2083T>C (p.Trp695Arg) rs139308429
NM_013382.7(POMT2):c.2085_2086delinsTT (p.Trp695_Pro696delinsCysSer) rs1566642523
NM_013382.7(POMT2):c.2088C>T (p.Pro696=)
NM_013382.7(POMT2):c.2094G>A (p.Ala698=)
NM_013382.7(POMT2):c.2101A>T (p.Ile701Leu) rs146367996
NM_013382.7(POMT2):c.2121G>A (p.Leu707=)
NM_013382.7(POMT2):c.2121G>C (p.Leu707=)
NM_013382.7(POMT2):c.2125C>G (p.Leu709Val)
NM_013382.7(POMT2):c.2128C>G (p.Leu710Val) rs2140160442
NM_013382.7(POMT2):c.2130C>T (p.Leu710=)
NM_013382.7(POMT2):c.213C>T (p.Thr71=)
NM_013382.7(POMT2):c.2142C>A (p.Ala714=)
NM_013382.7(POMT2):c.2142C>T (p.Ala714=)
NM_013382.7(POMT2):c.2145C>T (p.Tyr715=)
NM_013382.7(POMT2):c.2146A>T (p.Ser716Cys)
NM_013382.7(POMT2):c.2147+10T>G
NM_013382.7(POMT2):c.2147+13G>A
NM_013382.7(POMT2):c.2147+14C>T
NM_013382.7(POMT2):c.2147+15A>G
NM_013382.7(POMT2):c.2147+1G>A
NM_013382.7(POMT2):c.2147+1del
NM_013382.7(POMT2):c.2148-14G>A
NM_013382.7(POMT2):c.2148-20C>T
NM_013382.7(POMT2):c.2151C>T (p.Phe717=)
NM_013382.7(POMT2):c.2159del (p.Phe720fs) rs1890013661
NM_013382.7(POMT2):c.2161C>T (p.His721Tyr) rs2140157155
NM_013382.7(POMT2):c.2163C>T (p.His721=)
NM_013382.7(POMT2):c.2164C>T (p.Pro722Ser) rs1890012951
NM_013382.7(POMT2):c.2166T>C (p.Pro722=)
NM_013382.7(POMT2):c.2177G>A (p.Gly726Glu) rs267606969
NM_013382.7(POMT2):c.2182G>A (p.Val728Ile) rs1367401943
NM_013382.7(POMT2):c.2190C>T (p.Pro730=)
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter) rs1452558347
NM_013382.7(POMT2):c.2197del (p.Gln733fs) rs1292248431
NM_013382.7(POMT2):c.219C>T (p.Phe73=)
NM_013382.7(POMT2):c.2205C>A (p.Pro735=)
NM_013382.7(POMT2):c.220C>T (p.His74Tyr) rs1398447748
NM_013382.7(POMT2):c.2214A>G (p.Pro738=) rs2140156918
NM_013382.7(POMT2):c.2223A>G (p.Gly741=) rs554801559
NM_013382.7(POMT2):c.2228G>T (p.Arg743Met) rs767359121
NM_013382.7(POMT2):c.2241A>G (p.Ser747=)
NM_013382.7(POMT2):c.2241A>T (p.Ser747=) rs751053480
NM_013382.7(POMT2):c.2242T>C (p.Trp748Arg) rs267606964
NM_013382.7(POMT2):c.2243G>C (p.Trp748Ser) rs267606967
NM_013382.7(POMT2):c.224G>C (p.Arg75Pro) rs1200964688
NM_013382.7(POMT2):c.2251T>C (p.Ter751Arg) rs1423335226
NM_013382.7(POMT2):c.227T>A (p.Leu76Ter)
NM_013382.7(POMT2):c.231C>T (p.Asp77=) rs1378921614
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_013382.7(POMT2):c.234G>A (p.Glu78=)
NM_013382.7(POMT2):c.239C>T (p.Pro80Leu) rs1195398546
NM_013382.7(POMT2):c.242A>C (p.His81Pro) rs746662519
NM_013382.7(POMT2):c.242A>G (p.His81Arg) rs746662519
NM_013382.7(POMT2):c.248+13A>C
NM_013382.7(POMT2):c.248+15G>T
NM_013382.7(POMT2):c.248+16G>T rs1891826465
NM_013382.7(POMT2):c.248+18C>A
NM_013382.7(POMT2):c.248+19T>A
NM_013382.7(POMT2):c.248+1G>A
NM_013382.7(POMT2):c.248+1G>T
NM_013382.7(POMT2):c.248+5G>A
NM_013382.7(POMT2):c.249-11G>A
NM_013382.7(POMT2):c.249-15C>T
NM_013382.7(POMT2):c.249-16T>C
NM_013382.7(POMT2):c.249-18T>C
NM_013382.7(POMT2):c.249-19C>G
NM_013382.7(POMT2):c.249-19C>T
NM_013382.7(POMT2):c.249-8dup rs1891454173
NM_013382.7(POMT2):c.253del (p.Asp85fs)
NM_013382.7(POMT2):c.25C>T (p.Leu9=) rs1280735533
NM_013382.7(POMT2):c.260C>G (p.Thr87Ser)
NM_013382.7(POMT2):c.261T>C (p.Thr87=)
NM_013382.7(POMT2):c.270A>C (p.Gly90=)
NM_013382.7(POMT2):c.278G>A (p.Gly93Glu) rs1891452198
NM_013382.7(POMT2):c.287A>G (p.Tyr96Cys)
NM_013382.7(POMT2):c.288T>C (p.Tyr96=) rs2139518411
NM_013382.7(POMT2):c.292A>C (p.Asn98His)
NM_013382.7(POMT2):c.297T>C (p.Arg99=)
NM_013382.7(POMT2):c.30A>G (p.Ala10=) rs2139552052
NM_013382.7(POMT2):c.318C>T (p.His106=) rs2139518201
NM_013382.7(POMT2):c.321G>A (p.Pro107=) rs756802962
NM_013382.7(POMT2):c.322C>T (p.Pro108Ser) rs1555355402
NM_013382.7(POMT2):c.324C>T (p.Pro108=)
NM_013382.7(POMT2):c.329G>A (p.Gly110Glu) rs1891447838
NM_013382.7(POMT2):c.332A>G (p.Lys111Arg)
NM_013382.7(POMT2):c.333+10G>A
NM_013382.7(POMT2):c.333+18T>A
NM_013382.7(POMT2):c.333+1G>T
NM_013382.7(POMT2):c.334-13C>A
NM_013382.7(POMT2):c.334-16G>A
NM_013382.7(POMT2):c.334-3C>A rs1566658848
NM_013382.7(POMT2):c.334-8C>G
NM_013382.7(POMT2):c.33G>A (p.Glu11=) rs776638993
NM_013382.7(POMT2):c.344G>C (p.Gly115Ala) rs1594800236
NM_013382.7(POMT2):c.346C>T (p.Leu116Phe) rs1594800231
NM_013382.7(POMT2):c.35C>T (p.Ser12Phe) rs1891855792
NM_013382.7(POMT2):c.369T>C (p.Tyr123=)
NM_013382.7(POMT2):c.36C>T (p.Ser12=) rs771074829
NM_013382.7(POMT2):c.382T>C (p.Leu128=)
NM_013382.7(POMT2):c.383del (p.Leu128fs)
NM_013382.7(POMT2):c.389A>G (p.Gln130Arg) rs758643051
NM_013382.7(POMT2):c.393G>A (p.Lys131=)
NM_013382.7(POMT2):c.399G>A (p.Gly133=)
NM_013382.7(POMT2):c.406T>C (p.Tyr136His) rs1891230114
NM_013382.7(POMT2):c.411G>A (p.Glu137=)
NM_013382.7(POMT2):c.416A>G (p.His139Arg) rs1594800188
NM_013382.7(POMT2):c.435_438dup (p.Phe147fs)
NM_013382.7(POMT2):c.438+12T>A rs2139500656
NM_013382.7(POMT2):c.438+16T>C
NM_013382.7(POMT2):c.438+16T>G
NM_013382.7(POMT2):c.439-18del
NM_013382.7(POMT2):c.439-6C>T
NM_013382.7(POMT2):c.447A>G (p.Ala149=)
NM_013382.7(POMT2):c.450C>T (p.Phe150=)
NM_013382.7(POMT2):c.46C>T (p.Pro16Ser) rs747944127
NM_013382.7(POMT2):c.471C>T (p.Pro157=)
NM_013382.7(POMT2):c.475G>T (p.Ala159Ser)
NM_013382.7(POMT2):c.477C>G (p.Ala159=)
NM_013382.7(POMT2):c.50G>A (p.Arg17Gln) rs753326186
NM_013382.7(POMT2):c.513G>A (p.Ser171=)
NM_013382.7(POMT2):c.51G>A (p.Arg17=) rs1891853487
NM_013382.7(POMT2):c.521T>C (p.Leu174Pro) rs1891164358
NM_013382.7(POMT2):c.524_533del (p.Leu175fs)
NM_013382.7(POMT2):c.530C>T (p.Ala177Val)
NM_013382.7(POMT2):c.533C>A (p.Ala178Asp)
NM_013382.7(POMT2):c.543C>T (p.Thr181=) rs2139493837
NM_013382.7(POMT2):c.547+10C>T
NM_013382.7(POMT2):c.547+12T>C
NM_013382.7(POMT2):c.547+14G>T rs1404659015
NM_013382.7(POMT2):c.547+16del
NM_013382.7(POMT2):c.547+5G>A rs773914478
NM_013382.7(POMT2):c.548-11A>G
NM_013382.7(POMT2):c.548-14C>T
NM_013382.7(POMT2):c.548-16A>G
NM_013382.7(POMT2):c.548-2A>G
NM_013382.7(POMT2):c.548-9G>A rs1891100155
NM_013382.7(POMT2):c.548A>G (p.Asp183Gly) rs1891099770
NM_013382.7(POMT2):c.54G>A (p.Arg18=)
NM_013382.7(POMT2):c.552G>A (p.Thr184=)
NM_013382.7(POMT2):c.559C>T (p.Leu187Phe) rs398124265
NM_013382.7(POMT2):c.564T>C (p.Thr188=)
NM_013382.7(POMT2):c.567G>A (p.Leu189=) rs780313126
NM_013382.7(POMT2):c.583C>G (p.Leu195Val) rs2139487023
NM_013382.7(POMT2):c.586G>A (p.Asp196Asn) rs1200584567
NM_013382.7(POMT2):c.587A>T (p.Asp196Val) rs745591622
NM_013382.7(POMT2):c.58C>T (p.Arg20Cys) rs750127630
NM_013382.7(POMT2):c.591C>T (p.Pro197=)
NM_013382.7(POMT2):c.594C>T (p.Ile198=)
NM_013382.7(POMT2):c.595C>T (p.Leu199=)
NM_013382.7(POMT2):c.60C>A (p.Arg20=)
NM_013382.7(POMT2):c.620T>C (p.Met207Thr) rs1326409250
NM_013382.7(POMT2):c.624G>A (p.Leu208=)
NM_013382.7(POMT2):c.627C>T (p.Ser209=)
NM_013382.7(POMT2):c.636G>C (p.Lys212Asn) rs368906346
NM_013382.7(POMT2):c.639C>T (p.Tyr213=)
NM_013382.7(POMT2):c.642C>A (p.Asn214Lys) rs1594797659
NM_013382.7(POMT2):c.645T>C (p.Ser215=)
NM_013382.7(POMT2):c.648C>A (p.Cys216Ter) rs147871747
NM_013382.7(POMT2):c.654C>T (p.Asp218=)
NM_013382.7(POMT2):c.655A>G (p.Arg219Gly)
NM_013382.7(POMT2):c.656+10T>A
NM_013382.7(POMT2):c.656+17C>T
NM_013382.7(POMT2):c.656+18C>T
NM_013382.7(POMT2):c.656+19G>A
NM_013382.7(POMT2):c.656+1G>A
NM_013382.7(POMT2):c.656+20G>T
NM_013382.7(POMT2):c.656+9C>G
NM_013382.7(POMT2):c.657-14T>A
NM_013382.7(POMT2):c.657-15C>T
NM_013382.7(POMT2):c.657-17G>A
NM_013382.7(POMT2):c.657-18C>A
NM_013382.7(POMT2):c.657-18_657-15del
NM_013382.7(POMT2):c.657-20T>G rs1032925016
NM_013382.7(POMT2):c.657-3C>T rs2139480952
NM_013382.7(POMT2):c.657-4T>G
NM_013382.7(POMT2):c.657-4del rs777481709
NM_013382.7(POMT2):c.657-7dup rs777481709
NM_013382.7(POMT2):c.657-9G>C rs1359971151
NM_013382.7(POMT2):c.658C>T (p.Pro220Ser) rs771201662
NM_013382.7(POMT2):c.659C>T (p.Pro220Leu) rs1555354184
NM_013382.7(POMT2):c.671C>T (p.Pro224Leu)
NM_013382.7(POMT2):c.672del (p.Trp225fs) rs1566656247
NM_013382.7(POMT2):c.673del (p.Trp225fs) rs1594796439
NM_013382.7(POMT2):c.678G>A (p.Trp226Ter) rs778947923
NM_013382.7(POMT2):c.678del (p.Trp226fs) rs755660222
NM_013382.7(POMT2):c.68C>G (p.Pro23Arg) rs2139551576
NM_013382.7(POMT2):c.690C>G (p.Ser230Arg)
NM_013382.7(POMT2):c.690C>T (p.Ser230=) rs895876912
NM_013382.7(POMT2):c.6G>C (p.Pro2=)
NM_013382.7(POMT2):c.70dup (p.Gln24fs)
NM_013382.7(POMT2):c.717T>G (p.Ala239=)
NM_013382.7(POMT2):c.737G>A (p.Gly246Asp) rs267606966
NM_013382.7(POMT2):c.741C>G (p.Leu247=)
NM_013382.7(POMT2):c.745A>G (p.Ile249Val) rs1337866102
NM_013382.7(POMT2):c.74C>T (p.Ala25Val)
NM_013382.7(POMT2):c.758T>G (p.Val253Gly) rs760828168
NM_013382.7(POMT2):c.763C>G (p.Leu255Val) rs1048633441
NM_013382.7(POMT2):c.767A>T (p.Asn256Ile) rs1891021273
NM_013382.7(POMT2):c.768C>T (p.Asn256=)
NM_013382.7(POMT2):c.773T>C (p.Ile258Thr)
NM_013382.7(POMT2):c.780C>A (p.Asp260Glu)
NM_013382.7(POMT2):c.780C>T (p.Asp260=) rs2139480330
NM_013382.7(POMT2):c.781C>T (p.Leu261Phe)
NM_013382.7(POMT2):c.786G>A (p.Trp262Ter)
NM_013382.7(POMT2):c.790C>T (p.Leu264=)
NM_013382.7(POMT2):c.791del (p.Leu264fs) rs1891020302
NM_013382.7(POMT2):c.795C>G (p.Phe265Leu) rs765276419
NM_013382.7(POMT2):c.7C>G (p.Pro3Ala) rs1342953034
NM_013382.7(POMT2):c.814T>C (p.Leu272=)
NM_013382.7(POMT2):c.816+14G>C
NM_013382.7(POMT2):c.816+1G>T
NM_013382.7(POMT2):c.817-10C>G rs942797478
NM_013382.7(POMT2):c.817-14G>C
NM_013382.7(POMT2):c.817-20A>G rs1566655273
NM_013382.7(POMT2):c.824_825del (p.Val275fs)
NM_013382.7(POMT2):c.827G>A (p.Gly276Glu) rs1890947139
NM_013382.7(POMT2):c.836T>A (p.Leu279Gln) rs1890946815
NM_013382.7(POMT2):c.843T>G (p.Ala281=)
NM_013382.7(POMT2):c.844C>G (p.Arg282Gly)
NM_013382.7(POMT2):c.849C>T (p.Val283=)
NM_013382.7(POMT2):c.855C>G (p.Cys285Trp)
NM_013382.7(POMT2):c.855C>T (p.Cys285=)
NM_013382.7(POMT2):c.85G>A (p.Ala29Thr)
NM_013382.7(POMT2):c.85G>T (p.Ala29Ser)
NM_013382.7(POMT2):c.866T>G (p.Leu289Arg) rs2139473885
NM_013382.7(POMT2):c.870C>T (p.Pro290=)
NM_013382.7(POMT2):c.874G>C (p.Ala292Pro) rs1312138776
NM_013382.7(POMT2):c.879C>G (p.Leu293=) rs2139473776
NM_013382.7(POMT2):c.879_880del (p.Thr295fs) rs752440109
NM_013382.7(POMT2):c.87A>G (p.Ala29=)
NM_013382.7(POMT2):c.87A>T (p.Ala29=) rs794726937
NM_013382.7(POMT2):c.884C>G (p.Thr295Arg) rs794727871
NM_013382.7(POMT2):c.884C>T (p.Thr295Ile) rs794727871
NM_013382.7(POMT2):c.894T>C (p.Phe298=)
NM_013382.7(POMT2):c.895G>A (p.Ala299Thr)
NM_013382.7(POMT2):c.903C>T (p.His301=)
NM_013382.7(POMT2):c.90C>G (p.Gly30=)
NM_013382.7(POMT2):c.90C>T (p.Gly30=) rs923004188
NM_013382.7(POMT2):c.917G>A (p.Ser306Asn)
NM_013382.7(POMT2):c.923+12G>A
NM_013382.7(POMT2):c.923+12G>T
NM_013382.7(POMT2):c.923+19C>A
NM_013382.7(POMT2):c.923+20A>G
NM_013382.7(POMT2):c.923+5A>G
NM_013382.7(POMT2):c.923+7A>G rs2139473467
NM_013382.7(POMT2):c.923+8C>T
NM_013382.7(POMT2):c.923+8_923+11del rs1272206712
NM_013382.7(POMT2):c.924-12C>G
NM_013382.7(POMT2):c.924-12C>T
NM_013382.7(POMT2):c.924-16C>T
NM_013382.7(POMT2):c.924-2A>C rs886044256
NM_013382.7(POMT2):c.924-2A>G rs886044256
NM_013382.7(POMT2):c.924-4A>G
NM_013382.7(POMT2):c.924-5C>A
NM_013382.7(POMT2):c.924-7C>T
NM_013382.7(POMT2):c.927C>T (p.Gly309=)
NM_013382.7(POMT2):c.929C>T (p.Pro310Leu)
NM_013382.7(POMT2):c.936C>G (p.Asp312Glu) rs186690580
NM_013382.7(POMT2):c.937G>A (p.Gly313Ser)
NM_013382.7(POMT2):c.957C>G (p.Phe319Leu)
NM_013382.7(POMT2):c.970T>C (p.Ser324Pro)
NM_013382.7(POMT2):c.981C>T (p.Asn327=) rs747147327
NM_013382.7(POMT2):c.985C>T (p.His329Tyr) rs2139470461
NM_013382.7(POMT2):c.989A>G (p.Asn330Ser)
NM_013382.7(POMT2):c.990T>C (p.Asn330=)
NM_013382.7(POMT2):c.997A>G (p.Ile333Val) rs1890917117
NM_013382.7(POMT2):c.9G>A (p.Pro3=) rs1594813347
NM_014254.3(RXYLT1):c.1019_1020delinsTT (p.Arg340Leu) rs397514544
NM_014254.3(RXYLT1):c.1024del (p.Tyr342fs)
NM_014254.3(RXYLT1):c.139del (p.Ala47fs) rs397514696
NM_014254.3(RXYLT1):c.169+2T>C
NM_014254.3(RXYLT1):c.233A>G (p.Gln78Arg)
NM_014254.3(RXYLT1):c.279del (p.Gly94fs) rs397514546
NM_014254.3(RXYLT1):c.390G>A (p.Trp130Ter) rs1565899712
NM_014254.3(RXYLT1):c.539G>T (p.Trp180Leu)
NM_014254.3(RXYLT1):c.920A>G (p.Gln307Arg) rs866198592
NM_014254.3(RXYLT1):c.92G>T (p.Arg31Leu) rs1897636551
NM_014254.3(RXYLT1):c.992C>T (p.Pro331Leu)
NM_016213.5(TRIP4):c.1065del (p.Ile356fs) rs1891833492
NM_016213.5(TRIP4):c.1678+1_1678+2insC rs2140313200
NM_016532.4(INPP5K):c.1247G>C (p.Ser416Thr) rs777736302
NM_016532.4(INPP5K):c.1251_1252del (p.Asn417fs) rs1060505040
NM_016532.4(INPP5K):c.149T>C (p.Ile50Thr) rs1060505038
NM_016532.4(INPP5K):c.152+5G>T
NM_016532.4(INPP5K):c.165G>T (p.Leu55Phe)
NM_016532.4(INPP5K):c.277A>G (p.Met93Val) rs1060505039
NM_016532.4(INPP5K):c.302T>C (p.Phe101Ser) rs2075263105
NM_016532.4(INPP5K):c.32G>A (p.Gly11Asp)
NM_016532.4(INPP5K):c.419G>A (p.Gly140Asp) rs2150989792
NM_016532.4(INPP5K):c.554+16del rs5818804
NM_016532.4(INPP5K):c.653G>A (p.Trp218Ter)
NM_016532.4(INPP5K):c.753_756del (p.Arg251fs)
NM_016532.4(INPP5K):c.793C>T (p.Pro265Ser) rs2150978746
NM_016532.4(INPP5K):c.809G>A (p.Arg270His)
NM_016532.4(INPP5K):c.899A>G (p.Tyr300Cys) rs766046008
NM_016532.4(INPP5K):c.925A>G (p.Ser309Gly)
NM_017739.4(POMGNT1):c.*207G>A rs1657534329
NM_017739.4(POMGNT1):c.*2A>T rs1188540095
NM_017739.4(POMGNT1):c.*335_*361del rs754791169
NM_017739.4(POMGNT1):c.*457C>T rs1657513729
NM_017739.4(POMGNT1):c.*499G>A rs866924336
NM_017739.4(POMGNT1):c.*513del rs1553162438
NM_017739.4(POMGNT1):c.*5TCC[1] rs780919404
NM_017739.4(POMGNT1):c.-144C>T rs1571674193
NM_017739.4(POMGNT1):c.1001C>T (p.Thr334Ile) rs1027415099
NM_017739.4(POMGNT1):c.1001_1002del (p.Thr334fs) rs1571659306
NM_017739.4(POMGNT1):c.1002A>C (p.Thr334=)
NM_017739.4(POMGNT1):c.1006_1007dup (p.Ile337fs)
NM_017739.4(POMGNT1):c.1007T>C (p.Phe336Ser) rs886046385
NM_017739.4(POMGNT1):c.1009A>G (p.Ile337Val)
NM_017739.4(POMGNT1):c.100G>A (p.Ala34Thr) rs1658356810
NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter) rs751254522
NM_017739.4(POMGNT1):c.1017CTA[1] (p.Tyr341del) rs2148194204
NM_017739.4(POMGNT1):c.1022A>G (p.Tyr341Cys)
NM_017739.4(POMGNT1):c.1026+11C>T
NM_017739.4(POMGNT1):c.1026+12T>G
NM_017739.4(POMGNT1):c.1026+13_1026+14insC
NM_017739.4(POMGNT1):c.1026+14G>A
NM_017739.4(POMGNT1):c.1026+15G>A
NM_017739.4(POMGNT1):c.1026+16G>A
NM_017739.4(POMGNT1):c.1026+19del rs762531635
NM_017739.4(POMGNT1):c.1026+19dup
NM_017739.4(POMGNT1):c.1026+3G>A
NM_017739.4(POMGNT1):c.1026+9G>A rs2148194105
NM_017739.4(POMGNT1):c.1026+9G>C rs2148194105
NM_017739.4(POMGNT1):c.1027-11A>G rs1339767677
NM_017739.4(POMGNT1):c.1027-18A>C rs1255998791
NM_017739.4(POMGNT1):c.1027-2_1027-1del rs1057516536
NM_017739.4(POMGNT1):c.1027-4C>G rs1325977866
NM_017739.4(POMGNT1):c.1027-4C>T
NM_017739.4(POMGNT1):c.1027-6C>T
NM_017739.4(POMGNT1):c.1027-9dup
NM_017739.4(POMGNT1):c.102C>T (p.Ala34=) rs2148222428
NM_017739.4(POMGNT1):c.1031C>T (p.Pro344Leu)
NM_017739.4(POMGNT1):c.1036G>C (p.Asp346His) rs754255569
NM_017739.4(POMGNT1):c.1041G>A (p.Val347=) rs1422051418
NM_017739.4(POMGNT1):c.1042G>A (p.Val348Met) rs2148192741
NM_017739.4(POMGNT1):c.1043dup (p.Ala349fs) rs2148192725
NM_017739.4(POMGNT1):c.1047A>G (p.Ala349=)
NM_017739.4(POMGNT1):c.104T>A (p.Leu35Gln) rs2148222413
NM_017739.4(POMGNT1):c.1050G>A (p.Leu350=) rs886043076
NM_017739.4(POMGNT1):c.1050G>T (p.Leu350=) rs886043076
NM_017739.4(POMGNT1):c.1055G>A (p.Gly352Asp) rs1195736220
NM_017739.4(POMGNT1):c.1055_1059del (p.Gly352fs)
NM_017739.4(POMGNT1):c.1059G>A (p.Leu353=)
NM_017739.4(POMGNT1):c.1064G>A (p.Gly355Asp) rs2148192555
NM_017739.4(POMGNT1):c.1065C>T (p.Gly355=)
NM_017739.4(POMGNT1):c.106_107del (p.Arg36fs)
NM_017739.4(POMGNT1):c.1080C>A (p.Pro360=)
NM_017739.4(POMGNT1):c.1080C>T (p.Pro360=)
NM_017739.4(POMGNT1):c.1080del (p.Ile361fs) rs2148192392
NM_017739.4(POMGNT1):c.1082T>C (p.Ile361Thr) rs1553163380
NM_017739.4(POMGNT1):c.1085G>C (p.Ser362Thr)
NM_017739.4(POMGNT1):c.108G>A (p.Arg36=)
NM_017739.4(POMGNT1):c.1091A>G (p.Lys364Arg) rs1557673272
NM_017739.4(POMGNT1):c.1095T>C (p.Asn365=)
NM_017739.4(POMGNT1):c.1096del (p.Ala366fs)
NM_017739.4(POMGNT1):c.10del (p.Trp4fs) rs1571672866
NM_017739.4(POMGNT1):c.1104_1105del (p.Gln370fs) rs1553163360
NM_017739.4(POMGNT1):c.1109A>T (p.Gln370Leu)
NM_017739.4(POMGNT1):c.1110+1G>T
NM_017739.4(POMGNT1):c.1110+3A>G
NM_017739.4(POMGNT1):c.1110+5T>A
NM_017739.4(POMGNT1):c.1110+8A>G
NM_017739.4(POMGNT1):c.1111-10C>A rs1277266739
NM_017739.4(POMGNT1):c.1111-11C>T
NM_017739.4(POMGNT1):c.1111-12C>T rs369760788
NM_017739.4(POMGNT1):c.1111-14C>T
NM_017739.4(POMGNT1):c.1111-16C>T
NM_017739.4(POMGNT1):c.1111-1G>A
NM_017739.4(POMGNT1):c.1111-4C>G rs1027899021
NM_017739.4(POMGNT1):c.1111-7C>T rs1414733588
NM_017739.4(POMGNT1):c.1111-8_1119del
NM_017739.4(POMGNT1):c.1111-9C>A rs757533535
NM_017739.4(POMGNT1):c.1113del (p.Tyr372fs) rs1057517369
NM_017739.4(POMGNT1):c.1117A>C (p.Lys373Gln) rs752591703
NM_017739.4(POMGNT1):c.1117A>T (p.Lys373Ter)
NM_017739.4(POMGNT1):c.1119G>A (p.Lys373=) rs2148191353
NM_017739.4(POMGNT1):c.1122C>A (p.Ala374=)
NM_017739.4(POMGNT1):c.1128C>T (p.Leu376=) rs2148191342
NM_017739.4(POMGNT1):c.1132G>A (p.Ala378Thr)
NM_017739.4(POMGNT1):c.1137T>C (p.Thr379=) rs2148191281
NM_017739.4(POMGNT1):c.1140C>A (p.Phe380Leu)
NM_017739.4(POMGNT1):c.1142A>C (p.Asn381Thr) rs140846775
NM_017739.4(POMGNT1):c.1143C>T (p.Asn381=) rs1657925003
NM_017739.4(POMGNT1):c.1149T>G (p.Phe383Leu) rs2148191200
NM_017739.4(POMGNT1):c.114C>T (p.Phe38=) rs574593030
NM_017739.4(POMGNT1):c.1152+10A>T rs2148191095
NM_017739.4(POMGNT1):c.1152+12G>C
NM_017739.4(POMGNT1):c.1152+13G>T
NM_017739.4(POMGNT1):c.1152+14_1152+27del
NM_017739.4(POMGNT1):c.1152+1G>A rs1474858292
NM_017739.4(POMGNT1):c.1152+3G>A rs1657923881
NM_017739.4(POMGNT1):c.1153-10C>T
NM_017739.4(POMGNT1):c.1153-13A>G
NM_017739.4(POMGNT1):c.1153-13_1153-8del rs2148189751
NM_017739.4(POMGNT1):c.1153-18G>A
NM_017739.4(POMGNT1):c.1153-19T>C
NM_017739.4(POMGNT1):c.1153-1G>C rs1657900739
NM_017739.4(POMGNT1):c.1153-20A>G
NM_017739.4(POMGNT1):c.1153-20A>T
NM_017739.4(POMGNT1):c.1153-4C>T
NM_017739.4(POMGNT1):c.1153-4_1153-1del
NM_017739.4(POMGNT1):c.1153-5T>G
NM_017739.4(POMGNT1):c.1153-7C>T rs2148189712
NM_017739.4(POMGNT1):c.1153-8C>G rs1557672738
NM_017739.4(POMGNT1):c.1153G>C (p.Glu385Gln) rs2148189653
NM_017739.4(POMGNT1):c.1153G>T (p.Glu385Ter) rs2148189653
NM_017739.4(POMGNT1):c.1154A>T (p.Glu385Val) rs1657900516
NM_017739.4(POMGNT1):c.115T>C (p.Cys39Arg)
NM_017739.4(POMGNT1):c.1160A>G (p.Lys387Arg) rs1351958771
NM_017739.4(POMGNT1):c.1165G>T (p.Ala389Ser) rs374639571
NM_017739.4(POMGNT1):c.1168G>A (p.Val390Met) rs779045970
NM_017739.4(POMGNT1):c.116G>C (p.Cys39Ser) rs775392834
NM_017739.4(POMGNT1):c.1176G>A (p.Leu392=)
NM_017739.4(POMGNT1):c.1186C>T (p.Leu396=)
NM_017739.4(POMGNT1):c.1188G>A (p.Leu396=) rs1657896660
NM_017739.4(POMGNT1):c.1188G>C (p.Leu396=)
NM_017739.4(POMGNT1):c.1191C>T (p.Asp397=)
NM_017739.4(POMGNT1):c.120+10T>C rs1658352895
NM_017739.4(POMGNT1):c.120+16A>G
NM_017739.4(POMGNT1):c.120+19C>T
NM_017739.4(POMGNT1):c.120+1G>A
NM_017739.4(POMGNT1):c.120+2T>A rs1658353874
NM_017739.4(POMGNT1):c.120+4T>C rs1223030962
NM_017739.4(POMGNT1):c.120+8G>A
NM_017739.4(POMGNT1):c.1201G>A (p.Asp401Asn) rs1657895778
NM_017739.4(POMGNT1):c.1203T>C (p.Asp401=) rs1437757660
NM_017739.4(POMGNT1):c.120G>A (p.Gln40=) rs1658354104
NM_017739.4(POMGNT1):c.121-10C>G
NM_017739.4(POMGNT1):c.121-11C>T
NM_017739.4(POMGNT1):c.121-12C>A rs754484485
NM_017739.4(POMGNT1):c.121-13C>A
NM_017739.4(POMGNT1):c.121-13C>T
NM_017739.4(POMGNT1):c.121-15T>C
NM_017739.4(POMGNT1):c.121-17C>A
NM_017739.4(POMGNT1):c.121-2A>G rs1057516871
NM_017739.4(POMGNT1):c.121-3C>T rs2148219601
NM_017739.4(POMGNT1):c.121-67_265del rs1658278935
NM_017739.4(POMGNT1):c.121-67_265delinsTAG
NM_017739.4(POMGNT1):c.121-6C>A rs558052679
NM_017739.4(POMGNT1):c.121-6C>T rs558052679
NM_017739.4(POMGNT1):c.1211+14C>T
NM_017739.4(POMGNT1):c.1211+17G>C
NM_017739.4(POMGNT1):c.1211+6G>A
NM_017739.4(POMGNT1):c.1212-11G>C
NM_017739.4(POMGNT1):c.1212-14C>A
NM_017739.4(POMGNT1):c.1212-15C>T
NM_017739.4(POMGNT1):c.1212-16A>G
NM_017739.4(POMGNT1):c.1212-1G>A rs1553163254
NM_017739.4(POMGNT1):c.1212-1G>C rs1553163254
NM_017739.4(POMGNT1):c.1212-3C>G
NM_017739.4(POMGNT1):c.1212-3_1212-2del rs1064797111
NM_017739.4(POMGNT1):c.1212-5C>T rs2148187757
NM_017739.4(POMGNT1):c.1212-8T>C
NM_017739.4(POMGNT1):c.1215C>T (p.Phe405=) rs1280101536
NM_017739.4(POMGNT1):c.1218G>C (p.Leu406=) rs1211823122
NM_017739.4(POMGNT1):c.121A>G (p.Thr41Ala) rs886046386
NM_017739.4(POMGNT1):c.1226C>A (p.Ser409Tyr) rs1259024068
NM_017739.4(POMGNT1):c.1227C>T (p.Ser409=)
NM_017739.4(POMGNT1):c.1229_1232del (p.Ile410fs)
NM_017739.4(POMGNT1):c.1230C>T (p.Ile410=) rs756026992
NM_017739.4(POMGNT1):c.1233C>T (p.His411=)
NM_017739.4(POMGNT1):c.1236A>C (p.Leu412=) rs780965440
NM_017739.4(POMGNT1):c.1239G>T (p.Leu413=) rs2148187443
NM_017739.4(POMGNT1):c.1255C>T (p.Leu419=)
NM_017739.4(POMGNT1):c.1264A>C (p.Ile422Leu) rs1553163234
NM_017739.4(POMGNT1):c.1268C>T (p.Ser423Phe) rs1571655768
NM_017739.4(POMGNT1):c.1269T>C (p.Ser423=) rs763604454
NM_017739.4(POMGNT1):c.1272C>T (p.Ala424=)
NM_017739.4(POMGNT1):c.1274G>C (p.Trp425Ser) rs386834011
NM_017739.4(POMGNT1):c.127G>A (p.Ala43Thr)
NM_017739.4(POMGNT1):c.127G>C (p.Ala43Pro)
NM_017739.4(POMGNT1):c.1281C>T (p.Asp427=) rs2148187177
NM_017739.4(POMGNT1):c.1282C>T (p.Gln428Ter) rs1657864516
NM_017739.4(POMGNT1):c.1284+11A>G
NM_017739.4(POMGNT1):c.1284+15C>T
NM_017739.4(POMGNT1):c.1284+18G>C
NM_017739.4(POMGNT1):c.1284+19G>C
NM_017739.4(POMGNT1):c.1284+20G>A
NM_017739.4(POMGNT1):c.1284+2_1284+19del rs1057516409
NM_017739.4(POMGNT1):c.1284+3A>C
NM_017739.4(POMGNT1):c.1284+4G>A rs2148187138
NM_017739.4(POMGNT1):c.1284+6C>T
NM_017739.4(POMGNT1):c.1285-10C>G rs2148186332
NM_017739.4(POMGNT1):c.1285-13_1285-12del
NM_017739.4(POMGNT1):c.1285-14C>G rs2148186436
NM_017739.4(POMGNT1):c.1285-17T>C rs1205438093
NM_017739.4(POMGNT1):c.1285-18A>G rs201073664
NM_017739.4(POMGNT1):c.1285-2A>G rs386834012
NM_017739.4(POMGNT1):c.1285-2A>T rs386834012
NM_017739.4(POMGNT1):c.1285-5C>T
NM_017739.4(POMGNT1):c.1286G>A (p.Gly429Glu)
NM_017739.4(POMGNT1):c.1286G>T (p.Gly429Val) rs751274265
NM_017739.4(POMGNT1):c.1287G>A (p.Gly429=) rs1263918453
NM_017739.4(POMGNT1):c.1287dup
NM_017739.4(POMGNT1):c.1290T>C (p.Tyr430=)
NM_017739.4(POMGNT1):c.1294C>G (p.His432Asp)
NM_017739.4(POMGNT1):c.1296C>T (p.His432=)
NM_017739.4(POMGNT1):c.129C>G (p.Ala43=)
NM_017739.4(POMGNT1):c.12del (p.Asp3_Trp4insTer)
NM_017739.4(POMGNT1):c.1300G>A (p.Ala434Thr) rs2148186054
NM_017739.4(POMGNT1):c.1304_1305del (p.Glu435fs)
NM_017739.4(POMGNT1):c.1314A>G (p.Ala438=) rs2148185956
NM_017739.4(POMGNT1):c.1319T>G (p.Leu440Arg) rs386834013
NM_017739.4(POMGNT1):c.1320G>A (p.Leu440=) rs1419629661
NM_017739.4(POMGNT1):c.1320G>C (p.Leu440=)
NM_017739.4(POMGNT1):c.132G>A (p.Val44=) rs1658306175
NM_017739.4(POMGNT1):c.1332G>A (p.Glu444=)
NM_017739.4(POMGNT1):c.1332G>T (p.Glu444Asp) rs2148185834
NM_017739.4(POMGNT1):c.1335del (p.Met446fs) rs1553163206
NM_017739.4(POMGNT1):c.1338G>A (p.Met446Ile) rs1571655190
NM_017739.4(POMGNT1):c.1341T>C (p.Pro447=) rs764844715
NM_017739.4(POMGNT1):c.1343G>A (p.Gly448Glu)
NM_017739.4(POMGNT1):c.1344G>A (p.Gly448=) rs183932527
NM_017739.4(POMGNT1):c.1344G>T (p.Gly448=) rs183932527
NM_017739.4(POMGNT1):c.1345C>T (p.Leu449=)
NM_017739.4(POMGNT1):c.1347G>A (p.Leu449=)
NM_017739.4(POMGNT1):c.134T>A (p.Leu45His) rs2148219431
NM_017739.4(POMGNT1):c.1350C>T (p.Gly450=)
NM_017739.4(POMGNT1):c.1350_1354del (p.Trp451fs) rs386834015
NM_017739.4(POMGNT1):c.1352G>A (p.Trp451Ter)
NM_017739.4(POMGNT1):c.1363A>C (p.Arg455=)
NM_017739.4(POMGNT1):c.1365del (p.Arg455fs) rs2148185606
NM_017739.4(POMGNT1):c.1371G>A (p.Leu457=)
NM_017739.4(POMGNT1):c.1373A>G (p.Tyr458Cys)
NM_017739.4(POMGNT1):c.1374C>G (p.Tyr458Ter)
NM_017739.4(POMGNT1):c.1374C>T (p.Tyr458=)
NM_017739.4(POMGNT1):c.1377G>C (p.Lys459Asn)
NM_017739.4(POMGNT1):c.137del (p.Phe46fs)
NM_017739.4(POMGNT1):c.1387G>C (p.Glu463Gln)
NM_017739.4(POMGNT1):c.1391C>T (p.Pro464Leu)
NM_017739.4(POMGNT1):c.1395G>C (p.Lys465Asn) rs1657843296
NM_017739.4(POMGNT1):c.1397G>A (p.Trp466Ter)
NM_017739.4(POMGNT1):c.1398G>A (p.Trp466Ter)
NM_017739.4(POMGNT1):c.1402A>G (p.Thr468Ala)
NM_017739.4(POMGNT1):c.1403C>T (p.Thr468Ile) rs2148185390
NM_017739.4(POMGNT1):c.1404A>G (p.Thr468=) rs1469098458
NM_017739.4(POMGNT1):c.1406C>T (p.Pro469Leu) rs769879467
NM_017739.4(POMGNT1):c.1411A>T (p.Lys471Ter)
NM_017739.4(POMGNT1):c.1413+14T>C
NM_017739.4(POMGNT1):c.1413+15A>C
NM_017739.4(POMGNT1):c.1413+17G>A
NM_017739.4(POMGNT1):c.1413+17G>T
NM_017739.4(POMGNT1):c.1413+18G>A
NM_017739.4(POMGNT1):c.1413+1G>C rs587777821
NM_017739.4(POMGNT1):c.1413+1G>T rs587777821
NM_017739.4(POMGNT1):c.1413+6T>G rs1160554172
NM_017739.4(POMGNT1):c.1413+7G>C rs372521038
NM_017739.4(POMGNT1):c.1414-18G>A rs746924004
NM_017739.4(POMGNT1):c.1414-18G>T
NM_017739.4(POMGNT1):c.1414-19C>T rs978565899
NM_017739.4(POMGNT1):c.1414-1G>T
NM_017739.4(POMGNT1):c.1414-2A>C
NM_017739.4(POMGNT1):c.1414-4C>T rs1657831294
NM_017739.4(POMGNT1):c.1414-5G>C rs778744226
NM_017739.4(POMGNT1):c.1414-7C>T rs2148184559
NM_017739.4(POMGNT1):c.1414-9G>A
NM_017739.4(POMGNT1):c.1414C>A (p.Leu472Ile) rs1253221637
NM_017739.4(POMGNT1):c.1416C>T (p.Leu472=) rs2148184489
NM_017739.4(POMGNT1):c.141G>T (p.Leu47=) rs2148219389
NM_017739.4(POMGNT1):c.1425G>A (p.Trp475Ter) rs267606961
NM_017739.4(POMGNT1):c.1430T>C (p.Met477Thr)
NM_017739.4(POMGNT1):c.1431del (p.Met477fs)
NM_017739.4(POMGNT1):c.1435A>G (p.Met479Val)
NM_017739.4(POMGNT1):c.1436del (p.Met479fs)
NM_017739.4(POMGNT1):c.1445_1447delinsA (p.Pro482fs)
NM_017739.4(POMGNT1):c.144G>A (p.Leu48=) rs776815245
NM_017739.4(POMGNT1):c.1450C>T (p.Gln484Ter)
NM_017739.4(POMGNT1):c.1456C>G (p.Arg486Gly) rs534543454
NM_017739.4(POMGNT1):c.1456C>T (p.Arg486Trp)
NM_017739.4(POMGNT1):c.1457G>T (p.Arg486Leu) rs753030030
NM_017739.4(POMGNT1):c.1461C>T (p.Gly487=) rs2148184086
NM_017739.4(POMGNT1):c.1462C>G (p.Arg488Gly) rs727504103
NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter) rs727504103
NM_017739.4(POMGNT1):c.1464A>G (p.Arg488=) rs1157887321
NM_017739.4(POMGNT1):c.1465G>A (p.Glu489Lys)
NM_017739.4(POMGNT1):c.1465G>T (p.Glu489Ter)
NM_017739.4(POMGNT1):c.1468T>G (p.Cys490Gly)
NM_017739.4(POMGNT1):c.1478C>G (p.Pro493Arg) rs28942068
NM_017739.4(POMGNT1):c.1489C>A (p.Arg497=)
NM_017739.4(POMGNT1):c.1494C>G (p.Ser498=) rs2148183687
NM_017739.4(POMGNT1):c.1499A>C (p.His500Pro)
NM_017739.4(POMGNT1):c.1501T>C (p.Phe501Leu) rs753120009
NM_017739.4(POMGNT1):c.1503T>C (p.Phe501=) rs779251990
NM_017739.4(POMGNT1):c.1509C>T (p.Ile503=) rs370215834
NM_017739.4(POMGNT1):c.150T>G (p.Thr50=) rs2148219359
NM_017739.4(POMGNT1):c.1510G>T (p.Val504Phe) rs17102066
NM_017739.4(POMGNT1):c.1512C>T (p.Val504=)
NM_017739.4(POMGNT1):c.1515C>T (p.Gly505=)
NM_017739.4(POMGNT1):c.151G>A (p.Val51Ile) rs2148219344
NM_017739.4(POMGNT1):c.1521C>G (p.Asn507Lys) rs767617711
NM_017739.4(POMGNT1):c.1523T>C (p.Met508Thr) rs1571653937
NM_017739.4(POMGNT1):c.1538_1539+2del rs1057516576
NM_017739.4(POMGNT1):c.1539+11G>A
NM_017739.4(POMGNT1):c.1539+11G>T
NM_017739.4(POMGNT1):c.1539+12G>T
NM_017739.4(POMGNT1):c.1539+15G>A
NM_017739.4(POMGNT1):c.1539+16G>T rs2148183113
NM_017739.4(POMGNT1):c.1539+17del
NM_017739.4(POMGNT1):c.1539+18A>T
NM_017739.4(POMGNT1):c.1539+19G>A
NM_017739.4(POMGNT1):c.1539+19G>T
NM_017739.4(POMGNT1):c.1539+1G>T rs138642840
NM_017739.4(POMGNT1):c.1539+1del rs1553163077
NM_017739.4(POMGNT1):c.1539+20C>G rs1298417014
NM_017739.4(POMGNT1):c.1539+20C>T
NM_017739.4(POMGNT1):c.1539+7G>A
NM_017739.4(POMGNT1):c.1540-12T>C
NM_017739.4(POMGNT1):c.1540-16C>G
NM_017739.4(POMGNT1):c.1540-19A>G
NM_017739.4(POMGNT1):c.1540-2A>G rs386834016
NM_017739.4(POMGNT1):c.1540-3C>T
NM_017739.4(POMGNT1):c.1540-4C>T rs2148175006
NM_017739.4(POMGNT1):c.1540-5T>C
NM_017739.4(POMGNT1):c.1540-8C>T rs2148175078
NM_017739.4(POMGNT1):c.1545del (p.Tyr516fs) rs1434252108
NM_017739.4(POMGNT1):c.1547A>C (p.Tyr516Ser)
NM_017739.4(POMGNT1):c.1556del (p.Lys519fs) rs1176001640
NM_017739.4(POMGNT1):c.1557del (p.Lys519fs)
NM_017739.4(POMGNT1):c.1562del (p.Lys521fs) rs1057517422
NM_017739.4(POMGNT1):c.156T>C (p.Ile52=) rs2148219292
NM_017739.4(POMGNT1):c.1571C>G (p.Thr524Arg) rs769180238
NM_017739.4(POMGNT1):c.1585C>T (p.Gln529Ter)
NM_017739.4(POMGNT1):c.1588C>T (p.Leu530Phe)
NM_017739.4(POMGNT1):c.1597G>T (p.Val533Leu) rs1657700266
NM_017739.4(POMGNT1):c.1599G>A (p.Val533=) rs2148174488
NM_017739.4(POMGNT1):c.159C>T (p.Val53=)
NM_017739.4(POMGNT1):c.1604+17G>T rs2148174265
NM_017739.4(POMGNT1):c.1604+18G>C rs2148174248
NM_017739.4(POMGNT1):c.1604+1G>A rs1553162873
NM_017739.4(POMGNT1):c.1604+20C>A
NM_017739.4(POMGNT1):c.1604+2T>C rs1553162872
NM_017739.4(POMGNT1):c.1604+8C>A rs2148174404
NM_017739.4(POMGNT1):c.1604+9T>G
NM_017739.4(POMGNT1):c.1605-11C>T
NM_017739.4(POMGNT1):c.1605-15C>T
NM_017739.4(POMGNT1):c.1605-19A>G
NM_017739.4(POMGNT1):c.1605-1G>T rs770219373
NM_017739.4(POMGNT1):c.1605-20C>T
NM_017739.4(POMGNT1):c.1605-2A>T rs2148172518
NM_017739.4(POMGNT1):c.1605-2_1606del
NM_017739.4(POMGNT1):c.1605-3C>T rs1457187510
NM_017739.4(POMGNT1):c.1605-6C>T rs2148172583
NM_017739.4(POMGNT1):c.1605-6_1605-5del
NM_017739.4(POMGNT1):c.1605-8_1605-6del rs2148172606
NM_017739.4(POMGNT1):c.1608G>C (p.Leu536=)
NM_017739.4(POMGNT1):c.1609A>T (p.Lys537Ter)
NM_017739.4(POMGNT1):c.1615G>A (p.Glu539Lys) rs1657679725
NM_017739.4(POMGNT1):c.1615_1616del (p.Glu539fs)
NM_017739.4(POMGNT1):c.1623T>G (p.Tyr541Ter) rs746196856
NM_017739.4(POMGNT1):c.1629G>A (p.Val543=) rs2148172303
NM_017739.4(POMGNT1):c.1632A>G (p.Glu544=)
NM_017739.4(POMGNT1):c.1634T>C (p.Val545Ala) rs1657678070
NM_017739.4(POMGNT1):c.1636C>T (p.His546Tyr) rs970460430
NM_017739.4(POMGNT1):c.1638C>T (p.His546=)
NM_017739.4(POMGNT1):c.163A>G (p.Ile55Val) rs2148219236
NM_017739.4(POMGNT1):c.1648A>G (p.Ser550Gly) rs2148172085
NM_017739.4(POMGNT1):c.1649+10A>G
NM_017739.4(POMGNT1):c.1649+13A>G
NM_017739.4(POMGNT1):c.1649+16A>G rs1283340700
NM_017739.4(POMGNT1):c.1649+17T>C
NM_017739.4(POMGNT1):c.1649+18T>C
NM_017739.4(POMGNT1):c.1649+20G>A
NM_017739.4(POMGNT1):c.1649+2T>G rs1268759044
NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn) rs193919335
NM_017739.4(POMGNT1):c.1650-13C>T rs1413241496
NM_017739.4(POMGNT1):c.1650-2A>G
NM_017739.4(POMGNT1):c.1650-4G>A rs1557669478
NM_017739.4(POMGNT1):c.1650-5_1650-3dup rs2148167846
NM_017739.4(POMGNT1):c.1650-7A>G
NM_017739.4(POMGNT1):c.1650-97_1728del rs2148166991
NM_017739.4(POMGNT1):c.1651G>A (p.Glu551Lys)
NM_017739.4(POMGNT1):c.1659G>A (p.Glu553=) rs750115605
NM_017739.4(POMGNT1):c.165C>T (p.Ile55=)
NM_017739.4(POMGNT1):c.1662T>C (p.Val554=)
NM_017739.4(POMGNT1):c.1663C>T (p.Leu555=)
NM_017739.4(POMGNT1):c.1665G>A (p.Leu555=)
NM_017739.4(POMGNT1):c.1671C>T (p.His557=) rs2148167689
NM_017739.4(POMGNT1):c.1672dup (p.Ser558fs)
NM_017739.4(POMGNT1):c.1677del (p.Asn560fs)
NM_017739.4(POMGNT1):c.1680C>T (p.Asn560=) rs1571647920
NM_017739.4(POMGNT1):c.1681C>T (p.Pro561Ser) rs2148167563
NM_017739.4(POMGNT1):c.1683T>C (p.Pro561=) rs1246120938
NM_017739.4(POMGNT1):c.1684dup (p.Cys562fs)
NM_017739.4(POMGNT1):c.1686T>A (p.Cys562Ter)
NM_017739.4(POMGNT1):c.1686dup (p.Glu563Ter) rs2148167494
NM_017739.4(POMGNT1):c.1693T>A (p.Ser565Thr) rs753688195
NM_017739.4(POMGNT1):c.1693T>C (p.Ser565Pro) rs753688195
NM_017739.4(POMGNT1):c.1694_1695del (p.Ser565fs) rs1057516903
NM_017739.4(POMGNT1):c.1695_1698del (p.Phe566fs) rs1057516986
NM_017739.4(POMGNT1):c.1698C>T (p.Phe566=) rs1657621738
NM_017739.4(POMGNT1):c.169T>G (p.Leu57Val)
NM_017739.4(POMGNT1):c.16C>T (p.Pro6Ser) rs1553164303
NM_017739.4(POMGNT1):c.1704A>G (p.Pro568=)
NM_017739.4(POMGNT1):c.1708A>G (p.Thr570Ala)
NM_017739.4(POMGNT1):c.1711G>A (p.Glu571Lys)
NM_017739.4(POMGNT1):c.1712A>G (p.Glu571Gly) rs1204034604
NM_017739.4(POMGNT1):c.1716C>T (p.Gly572=) rs2148167217
NM_017739.4(POMGNT1):c.1719C>T (p.His573=) rs2148167171
NM_017739.4(POMGNT1):c.1719del (p.His573fs) rs386834017
NM_017739.4(POMGNT1):c.1722C>G (p.Thr574=)
NM_017739.4(POMGNT1):c.1725_1726del (p.Val576fs)
NM_017739.4(POMGNT1):c.1726G>A (p.Val576Met)
NM_017739.4(POMGNT1):c.1728G>A (p.Val576=)
NM_017739.4(POMGNT1):c.1729G>A (p.Ala577Thr) rs1343659692
NM_017739.4(POMGNT1):c.1731C>G (p.Ala577=) rs2148166958
NM_017739.4(POMGNT1):c.1731C>T (p.Ala577=)
NM_017739.4(POMGNT1):c.1739G>A (p.Arg580Gln)
NM_017739.4(POMGNT1):c.1741_1745del (p.Met581fs) rs749332339
NM_017739.4(POMGNT1):c.1742T>C (p.Met581Thr)
NM_017739.4(POMGNT1):c.1746G>A (p.Glu582=) rs2148166820
NM_017739.4(POMGNT1):c.1749A>G (p.Lys583=)
NM_017739.4(POMGNT1):c.174C>T (p.Ile58=) rs1262461613
NM_017739.4(POMGNT1):c.1752TGA[1] (p.Asp586del) rs777715386
NM_017739.4(POMGNT1):c.1755T>C (p.Asp585=)
NM_017739.4(POMGNT1):c.1759_1763del (p.Phe587fs) rs1302430730
NM_017739.4(POMGNT1):c.175C>T (p.Leu59=)
NM_017739.4(POMGNT1):c.1763C>T (p.Thr588Ile)
NM_017739.4(POMGNT1):c.1767C>T (p.Thr589=)
NM_017739.4(POMGNT1):c.1773C>G (p.Thr591=) rs755936993
NM_017739.4(POMGNT1):c.1777C>T (p.Leu593Phe)
NM_017739.4(POMGNT1):c.1780del (p.Ala594fs)
NM_017739.4(POMGNT1):c.1785+10T>C rs2148166357
NM_017739.4(POMGNT1):c.1785+19C>A
NM_017739.4(POMGNT1):c.1785+19C>T
NM_017739.4(POMGNT1):c.1785+1G>A rs2148166435
NM_017739.4(POMGNT1):c.1785+20A>G
NM_017739.4(POMGNT1):c.1785+2T>G rs386834020
NM_017739.4(POMGNT1):c.1786-10C>T
NM_017739.4(POMGNT1):c.1786-11A>G
NM_017739.4(POMGNT1):c.1786-12C>A
NM_017739.4(POMGNT1):c.1786-14C>G
NM_017739.4(POMGNT1):c.1786-16A>G
NM_017739.4(POMGNT1):c.1786-18C>G
NM_017739.4(POMGNT1):c.1786-1G>A rs1457667479
NM_017739.4(POMGNT1):c.1786-2A>G rs1057517340
NM_017739.4(POMGNT1):c.1786-4C>T
NM_017739.4(POMGNT1):c.1786-8C>G
NM_017739.4(POMGNT1):c.1788C>A (p.Cys596Ter) rs376973640
NM_017739.4(POMGNT1):c.1788C>T (p.Cys596=) rs376973640
NM_017739.4(POMGNT1):c.1802A>G (p.Asp601Gly)
NM_017739.4(POMGNT1):c.1804C>T (p.Leu602=)
NM_017739.4(POMGNT1):c.1806G>A (p.Leu602=)
NM_017739.4(POMGNT1):c.1809T>C (p.Asp603=) rs372423310
NM_017739.4(POMGNT1):c.180C>T (p.Asp60=) rs2148219090
NM_017739.4(POMGNT1):c.1812G>A (p.Val604=)
NM_017739.4(POMGNT1):c.1812del (p.Arg605fs)
NM_017739.4(POMGNT1):c.1813C>A (p.Arg605Ser) rs886044567
NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His) rs267606962
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro) rs267606962
NM_017739.4(POMGNT1):c.1814G>T (p.Arg605Leu) rs267606962
NM_017739.4(POMGNT1):c.1828G>T (p.Gly610Cys) rs1657578489
NM_017739.4(POMGNT1):c.1829del (p.Gly610fs)
NM_017739.4(POMGNT1):c.1832del (p.Leu611fs) rs587777822
NM_017739.4(POMGNT1):c.1835G>A (p.Trp612Ter)
NM_017739.4(POMGNT1):c.1839A>G (p.Arg613=) rs1657576580
NM_017739.4(POMGNT1):c.183T>C (p.Thr61=) rs748826601
NM_017739.4(POMGNT1):c.1841T>A (p.Leu614Ter) rs1364587778
NM_017739.4(POMGNT1):c.1842G>A (p.Leu614=) rs1298358291
NM_017739.4(POMGNT1):c.1842_1844del (p.Leu614del) rs1553162667
NM_017739.4(POMGNT1):c.1844T>G (p.Phe615Cys) rs2148163569
NM_017739.4(POMGNT1):c.1846C>G (p.Arg616Gly) rs763071717
NM_017739.4(POMGNT1):c.1846C>T (p.Arg616Trp) rs763071717
NM_017739.4(POMGNT1):c.1848GAA[2] (p.Lys618del) rs1435566919
NM_017739.4(POMGNT1):c.184C>G (p.Arg62Gly) rs1352412667
NM_017739.4(POMGNT1):c.184C>T (p.Arg62Trp) rs1352412667
NM_017739.4(POMGNT1):c.1852A>T (p.Lys618Ter) rs1553162663
NM_017739.4(POMGNT1):c.185G>A (p.Arg62Gln) rs779506923
NM_017739.4(POMGNT1):c.185_186insA (p.Arg63fs) rs1057517153
NM_017739.4(POMGNT1):c.1863C>T (p.Phe621=) rs2148163363
NM_017739.4(POMGNT1):c.1864del (p.Phe621_Leu622insTer) rs386834021
NM_017739.4(POMGNT1):c.1867A>C (p.Met623Leu) rs6659553
NM_017739.4(POMGNT1):c.1872G>C (p.Val624=) rs1168602477
NM_017739.4(POMGNT1):c.1876G>A (p.Val626Ile) rs199723646
NM_017739.4(POMGNT1):c.1876del (p.Val626fs) rs386834022
NM_017739.4(POMGNT1):c.1878C>T (p.Val626=) rs1657570765
NM_017739.4(POMGNT1):c.1887C>G (p.Ser629=)
NM_017739.4(POMGNT1):c.1888C>T (p.Pro630Ser)
NM_017739.4(POMGNT1):c.1889C>G (p.Pro630Arg) rs747723242
NM_017739.4(POMGNT1):c.188G>C (p.Arg63Pro) rs141421141
NM_017739.4(POMGNT1):c.1890C>T (p.Pro630=)
NM_017739.4(POMGNT1):c.1895+11C>T
NM_017739.4(POMGNT1):c.1895+19C>T
NM_017739.4(POMGNT1):c.1895+1G>A rs386834024
NM_017739.4(POMGNT1):c.1895+1G>C rs386834024
NM_017739.4(POMGNT1):c.1895+22_1895+23insCCTACTCGTGAGTGCCCTGTTT rs1553162621
NM_017739.4(POMGNT1):c.1895+5_1895+8del rs386834023
NM_017739.4(POMGNT1):c.1895+9C>G rs754452122
NM_017739.4(POMGNT1):c.1895+9C>T
NM_017739.4(POMGNT1):c.1895C>G (p.Ser632Ter) rs200471699
NM_017739.4(POMGNT1):c.1896-10A>C rs773132049
NM_017739.4(POMGNT1):c.1896-10A>G rs773132049
NM_017739.4(POMGNT1):c.1896-11T>A
NM_017739.4(POMGNT1):c.1896-13A>C
NM_017739.4(POMGNT1):c.1896-18C>G rs1571645725
NM_017739.4(POMGNT1):c.1896-18C>T
NM_017739.4(POMGNT1):c.1896-1G>C rs386834025
NM_017739.4(POMGNT1):c.1896-4C>T rs2148162311
NM_017739.4(POMGNT1):c.1896-5C>T
NM_017739.4(POMGNT1):c.1897G>A (p.Val633Met) rs1657559085
NM_017739.4(POMGNT1):c.1898T>A (p.Val633Glu) rs1285505849
NM_017739.4(POMGNT1):c.18C>T (p.Pro6=) rs1411103437
NM_017739.4(POMGNT1):c.1905del (p.Lys635fs) rs1553162601
NM_017739.4(POMGNT1):c.1913C>T (p.Ser638Leu) rs2148162135
NM_017739.4(POMGNT1):c.1914A>C (p.Ser638=) rs778579837
NM_017739.4(POMGNT1):c.1914A>T (p.Ser638=) rs778579837
NM_017739.4(POMGNT1):c.1917C>T (p.Val639=)
NM_017739.4(POMGNT1):c.1919C>T (p.Thr640Ile) rs748799436
NM_017739.4(POMGNT1):c.1923A>G (p.Pro641=) rs886043958
NM_017739.4(POMGNT1):c.1924A>G (p.Ile642Val) rs757749808
NM_017739.4(POMGNT1):c.1924A>T (p.Ile642Phe) rs757749808
NM_017739.4(POMGNT1):c.1926T>A (p.Ile642=)
NM_017739.4(POMGNT1):c.1928del (p.Phe643fs) rs386834026
NM_017739.4(POMGNT1):c.1929C>T (p.Phe643=) rs2148161920
NM_017739.4(POMGNT1):c.1930C>T (p.Leu644=) rs2148161905
NM_017739.4(POMGNT1):c.1932G>A (p.Leu644=)
NM_017739.4(POMGNT1):c.1935G>A (p.Glu645=) rs2148161838
NM_017739.4(POMGNT1):c.1936C>T (p.Pro646Ser) rs1442072528
NM_017739.4(POMGNT1):c.1939C>G (p.Pro647Ala) rs2148161781
NM_017739.4(POMGNT1):c.1939C>T (p.Pro647Ser)
NM_017739.4(POMGNT1):c.1945A>C (p.Lys649Gln) rs752942416
NM_017739.4(POMGNT1):c.1947G>T (p.Lys649Asn) rs144068158
NM_017739.4(POMGNT1):c.1950G>A (p.Glu650=) rs2148161681
NM_017739.4(POMGNT1):c.1950G>C (p.Glu650Asp) rs2148161681
NM_017739.4(POMGNT1):c.1956A>G (p.Gly652=) rs2148161602
NM_017739.4(POMGNT1):c.1959C>T (p.Ala653=) rs2148161592
NM_017739.4(POMGNT1):c.1966_1974dup (p.Ala656_Glu658dup) rs1553162587
NM_017739.4(POMGNT1):c.196A>G (p.Ser66Gly)
NM_017739.4(POMGNT1):c.1970C>T (p.Pro657Leu)
NM_017739.4(POMGNT1):c.1977G>A (p.Gln659=)
NM_017739.4(POMGNT1):c.1980A>C (p.Thr660=) rs1457135444
NM_017739.4(POMGNT1):c.198T>C (p.Ser66=) rs2148218905
NM_017739.4(POMGNT1):c.19A>G (p.Ser7Gly) rs2148222925
NM_017739.4(POMGNT1):c.1A>G (p.Met1Val)
NM_017739.4(POMGNT1):c.201A>G (p.Glu67=)
NM_017739.4(POMGNT1):c.208_209del (p.Glu70fs)
NM_017739.4(POMGNT1):c.20del (p.Ser7fs)
NM_017739.4(POMGNT1):c.214C>T (p.Pro72Ser) rs2148218769
NM_017739.4(POMGNT1):c.215dup (p.Glu73fs)
NM_017739.4(POMGNT1):c.225G>A (p.Glu75=) rs2148218728
NM_017739.4(POMGNT1):c.226C>A (p.Gln76Lys) rs972657462
NM_017739.4(POMGNT1):c.226C>T (p.Gln76Ter)
NM_017739.4(POMGNT1):c.233_234del (p.Asp77_Tyr78insTer) rs1553164129
NM_017739.4(POMGNT1):c.235+11G>A rs2148218572
NM_017739.4(POMGNT1):c.235+18A>T
NM_017739.4(POMGNT1):c.235+20G>A rs2148218480
NM_017739.4(POMGNT1):c.235+2T>C rs2148218654
NM_017739.4(POMGNT1):c.235+2T>G rs2148218654
NM_017739.4(POMGNT1):c.235G>A (p.Asp79Asn) rs1658296449
NM_017739.4(POMGNT1):c.236-15T>C
NM_017739.4(POMGNT1):c.236-15_236-7del rs769193448
NM_017739.4(POMGNT1):c.236-16C>T
NM_017739.4(POMGNT1):c.236-17C>A
NM_017739.4(POMGNT1):c.236-17C>T
NM_017739.4(POMGNT1):c.236-19G>A
NM_017739.4(POMGNT1):c.236-1G>C
NM_017739.4(POMGNT1):c.236-1_236del
NM_017739.4(POMGNT1):c.236-5C>A
NM_017739.4(POMGNT1):c.236-6C>T rs2148217861
NM_017739.4(POMGNT1):c.236-8C>T
NM_017739.4(POMGNT1):c.237T>G (p.Asp79Glu) rs748566125
NM_017739.4(POMGNT1):c.243C>G (p.Ala81=) rs200570654
NM_017739.4(POMGNT1):c.246_262dup (p.Pro88fs) rs2148217590
NM_017739.4(POMGNT1):c.251G>A (p.Arg84His) rs373866304
NM_017739.4(POMGNT1):c.251G>T (p.Arg84Leu) rs373866304
NM_017739.4(POMGNT1):c.252C>T (p.Arg84=)
NM_017739.4(POMGNT1):c.256G>C (p.Glu86Gln) rs1658280808
NM_017739.4(POMGNT1):c.258G>A (p.Glu86=) rs2148217653
NM_017739.4(POMGNT1):c.259C>T (p.Pro87Ser) rs1557677993
NM_017739.4(POMGNT1):c.25dup (p.Leu9fs) rs386834027
NM_017739.4(POMGNT1):c.261C>G (p.Pro87=)
NM_017739.4(POMGNT1):c.261C>T (p.Pro87=) rs1658279896
NM_017739.4(POMGNT1):c.263del (p.Pro88fs) rs1557677980
NM_017739.4(POMGNT1):c.265C>T (p.Arg89Trp)
NM_017739.4(POMGNT1):c.270C>A (p.Arg90=)
NM_017739.4(POMGNT1):c.275G>A (p.Gly92Asp) rs761706300
NM_017739.4(POMGNT1):c.284C>T (p.Pro95Leu) rs1334885135
NM_017739.4(POMGNT1):c.285C>T (p.Pro95=) rs2148217334
NM_017739.4(POMGNT1):c.287G>A (p.Arg96Gln) rs200227264
NM_017739.4(POMGNT1):c.289C>A (p.Arg97=) rs564076183
NM_017739.4(POMGNT1):c.296T>C (p.Leu99Pro)
NM_017739.4(POMGNT1):c.303_304insT (p.Glu102Ter)
NM_017739.4(POMGNT1):c.304G>T (p.Glu102Ter) rs749603354
NM_017739.4(POMGNT1):c.307del (p.Val103fs)
NM_017739.4(POMGNT1):c.309G>A (p.Val103=) rs1553164091
NM_017739.4(POMGNT1):c.30C>G (p.Ile10Met) rs781102649
NM_017739.4(POMGNT1):c.310T>G (p.Tyr104Asp) rs2148217123
NM_017739.4(POMGNT1):c.316A>C (p.Ser106Arg)
NM_017739.4(POMGNT1):c.320G>A (p.Arg107His) rs527454065
NM_017739.4(POMGNT1):c.324C>T (p.Ser108=)
NM_017739.4(POMGNT1):c.328G>T (p.Val110Leu) rs762760509
NM_017739.4(POMGNT1):c.333T>A (p.Tyr111Ter)
NM_017739.4(POMGNT1):c.333T>C (p.Tyr111=)
NM_017739.4(POMGNT1):c.33G>A (p.Lys11=)
NM_017739.4(POMGNT1):c.341T>C (p.Val114Ala) rs2148216895
NM_017739.4(POMGNT1):c.351del (p.Thr118fs) rs386834028
NM_017739.4(POMGNT1):c.353C>T (p.Thr118Met)
NM_017739.4(POMGNT1):c.354+14G>T
NM_017739.4(POMGNT1):c.354+15G>A
NM_017739.4(POMGNT1):c.354+15G>C
NM_017739.4(POMGNT1):c.354+15G>T
NM_017739.4(POMGNT1):c.354+1G>A rs1057517449
NM_017739.4(POMGNT1):c.354+6T>C rs1208898067
NM_017739.4(POMGNT1):c.354+8G>A
NM_017739.4(POMGNT1):c.354G>A (p.Thr118=)
NM_017739.4(POMGNT1):c.354G>C (p.Thr118=)
NM_017739.4(POMGNT1):c.355-15T>C
NM_017739.4(POMGNT1):c.355-16C>G rs1571667841
NM_017739.4(POMGNT1):c.355-17T>C
NM_017739.4(POMGNT1):c.355-18G>C rs752485539
NM_017739.4(POMGNT1):c.355-3T>G rs1553163972
NM_017739.4(POMGNT1):c.355-4_355-3del rs2148213665
NM_017739.4(POMGNT1):c.355-5T>C
NM_017739.4(POMGNT1):c.355-6G>A
NM_017739.4(POMGNT1):c.355-6G>T
NM_017739.4(POMGNT1):c.355-8C>G rs2148213723
NM_017739.4(POMGNT1):c.355-9A>C rs886042396
NM_017739.4(POMGNT1):c.355-9A>G rs886042396
NM_017739.4(POMGNT1):c.355-9A>T rs886042396
NM_017739.4(POMGNT1):c.357G>A (p.Val119=)
NM_017739.4(POMGNT1):c.360G>A (p.Leu120=) rs2148213580
NM_017739.4(POMGNT1):c.36C>T (p.Pro12=)
NM_017739.4(POMGNT1):c.36del (p.Phe13fs) rs1658363329
NM_017739.4(POMGNT1):c.373C>G (p.Arg125Gly)
NM_017739.4(POMGNT1):c.373C>T (p.Arg125Trp)
NM_017739.4(POMGNT1):c.374G>A (p.Arg125Gln)
NM_017739.4(POMGNT1):c.378G>A (p.Glu126=)
NM_017739.4(POMGNT1):c.387G>A (p.Arg129=)
NM_017739.4(POMGNT1):c.389G>A (p.Gly130Asp) rs1197810838
NM_017739.4(POMGNT1):c.389dup (p.Ile131fs)
NM_017739.4(POMGNT1):c.38T>G (p.Phe13Cys)
NM_017739.4(POMGNT1):c.390del (p.Ile131fs)
NM_017739.4(POMGNT1):c.396T>C (p.His132=) rs886043409
NM_017739.4(POMGNT1):c.399C>G (p.Val133=) rs776851436
NM_017739.4(POMGNT1):c.39T>C (p.Phe13=) rs2148222786
NM_017739.4(POMGNT1):c.3G>A (p.Met1Ile)
NM_017739.4(POMGNT1):c.400A>G (p.Ile134Val) rs771101711
NM_017739.4(POMGNT1):c.402T>A (p.Ile134=)
NM_017739.4(POMGNT1):c.408C>T (p.Leu136=)
NM_017739.4(POMGNT1):c.415G>C (p.Ala139Pro) rs764809782
NM_017739.4(POMGNT1):c.419C>T (p.Thr140Met) rs766157232
NM_017739.4(POMGNT1):c.420+15G>C
NM_017739.4(POMGNT1):c.420+16T>C
NM_017739.4(POMGNT1):c.420+17G>A
NM_017739.4(POMGNT1):c.420+17G>T
NM_017739.4(POMGNT1):c.420+18G>T
NM_017739.4(POMGNT1):c.420+19G>A
NM_017739.4(POMGNT1):c.420+19G>T
NM_017739.4(POMGNT1):c.420+3G>C
NM_017739.4(POMGNT1):c.420+4A>G
NM_017739.4(POMGNT1):c.420+8T>G
NM_017739.4(POMGNT1):c.421-10C>A rs2148212526
NM_017739.4(POMGNT1):c.421-12A>G
NM_017739.4(POMGNT1):c.421-14A>G
NM_017739.4(POMGNT1):c.421-20A>C
NM_017739.4(POMGNT1):c.421-29_452del rs2148212111
NM_017739.4(POMGNT1):c.421-3C>T rs1658202678
NM_017739.4(POMGNT1):c.421-4C>T rs2148212442
NM_017739.4(POMGNT1):c.421-7C>G
NM_017739.4(POMGNT1):c.421-8_421-7del
NM_017739.4(POMGNT1):c.422G>A (p.Gly141Asp) rs2148212411
NM_017739.4(POMGNT1):c.426del (p.His142fs)
NM_017739.4(POMGNT1):c.429G>A (p.Val143=)
NM_017739.4(POMGNT1):c.434C>T (p.Ala145Val) rs2148212293
NM_017739.4(POMGNT1):c.436A>G (p.Lys146Glu)
NM_017739.4(POMGNT1):c.438A>G (p.Lys146=) rs1360246041
NM_017739.4(POMGNT1):c.447del (p.Phe149fs) rs386834029
NM_017739.4(POMGNT1):c.452C>A (p.Thr151Lys) rs886044363
NM_017739.4(POMGNT1):c.453G>T (p.Thr151=)
NM_017739.4(POMGNT1):c.458C>A (p.Ser153Ter)
NM_017739.4(POMGNT1):c.459A>G (p.Ser153=)
NM_017739.4(POMGNT1):c.45T>C (p.Ala15=) rs2148222755
NM_017739.4(POMGNT1):c.461C>A (p.Pro154His) rs886043030
NM_017739.4(POMGNT1):c.476C>A (p.Ala159Asp) rs2148211902
NM_017739.4(POMGNT1):c.478del (p.Met160fs) rs1057517355
NM_017739.4(POMGNT1):c.47G>A (p.Arg16Gln)
NM_017739.4(POMGNT1):c.489C>T (p.Phe163=) rs1379184772
NM_017739.4(POMGNT1):c.490C>G (p.Leu164Val) rs2148211802
NM_017739.4(POMGNT1):c.492C>G (p.Leu164=) rs562534688
NM_017739.4(POMGNT1):c.494A>G (p.Asn165Ser)
NM_017739.4(POMGNT1):c.495C>T (p.Asn165=) rs2148211758
NM_017739.4(POMGNT1):c.504G>T (p.Ala168=) rs761978964
NM_017739.4(POMGNT1):c.506C>T (p.Pro169Leu) rs1271259700
NM_017739.4(POMGNT1):c.507C>G (p.Pro169=)
NM_017739.4(POMGNT1):c.508G>A (p.Gly170Ser) rs1164265990
NM_017739.4(POMGNT1):c.511C>T (p.Arg171Ter) rs1424631447
NM_017739.4(POMGNT1):c.512G>A (p.Arg171Gln) rs1046275062
NM_017739.4(POMGNT1):c.512_517dup (p.Arg171_Val172dup) rs1553163909
NM_017739.4(POMGNT1):c.519C>T (p.Leu173=) rs749222507
NM_017739.4(POMGNT1):c.522C>A (p.Ile174=)
NM_017739.4(POMGNT1):c.522C>T (p.Ile174=) rs949200631
NM_017739.4(POMGNT1):c.525C>T (p.Cys175=)
NM_017739.4(POMGNT1):c.526A>C (p.Thr176Pro) rs386834030
NM_017739.4(POMGNT1):c.528T>C (p.Thr176=) rs1217058255
NM_017739.4(POMGNT1):c.52A>G (p.Lys18Glu) rs1553164287
NM_017739.4(POMGNT1):c.534+17T>C
NM_017739.4(POMGNT1):c.535-10G>T rs775581321
NM_017739.4(POMGNT1):c.535-17C>T
NM_017739.4(POMGNT1):c.535-20T>A
NM_017739.4(POMGNT1):c.535-3del
NM_017739.4(POMGNT1):c.535-4C>G rs1433628796
NM_017739.4(POMGNT1):c.535-4C>T
NM_017739.4(POMGNT1):c.535-7C>G rs375913574
NM_017739.4(POMGNT1):c.535-7C>T rs375913574
NM_017739.4(POMGNT1):c.535-9G>A
NM_017739.4(POMGNT1):c.538G>T (p.Glu180Ter)
NM_017739.4(POMGNT1):c.540G>A (p.Glu180=) rs1571664531
NM_017739.4(POMGNT1):c.541G>A (p.Gly181Ser) rs2148205851
NM_017739.4(POMGNT1):c.544T>C (p.Ser182Pro) rs2148205834
NM_017739.4(POMGNT1):c.546C>T (p.Ser182=)
NM_017739.4(POMGNT1):c.54G>A (p.Lys18=) rs1364921620
NM_017739.4(POMGNT1):c.557A>G (p.Lys186Arg) rs2148205697
NM_017739.4(POMGNT1):c.55C>A (p.Arg19=) rs757941122
NM_017739.4(POMGNT1):c.55C>T (p.Arg19Trp) rs757941122
NM_017739.4(POMGNT1):c.563_564del (p.Thr188fs) rs757322014
NM_017739.4(POMGNT1):c.564_576del (p.Thr188_Ala189insTer) rs2148205473
NM_017739.4(POMGNT1):c.565G>C (p.Ala189Pro) rs949714416
NM_017739.4(POMGNT1):c.567C>T (p.Ala189=)
NM_017739.4(POMGNT1):c.56G>A (p.Arg19Gln)
NM_017739.4(POMGNT1):c.570G>A (p.Lys190=)
NM_017739.4(POMGNT1):c.580_581del (p.Arg194fs)
NM_017739.4(POMGNT1):c.582G>A (p.Arg194=) rs398124309
NM_017739.4(POMGNT1):c.584del (p.Ser195fs)
NM_017739.4(POMGNT1):c.585C>T (p.Ser195=) rs756578769
NM_017739.4(POMGNT1):c.586del (p.Leu196fs)
NM_017739.4(POMGNT1):c.588G>C (p.Leu196=)
NM_017739.4(POMGNT1):c.588G>T (p.Leu196=)
NM_017739.4(POMGNT1):c.593del (p.Ser198fs) rs386834031
NM_017739.4(POMGNT1):c.594C>G (p.Ser198Arg) rs386834032
NM_017739.4(POMGNT1):c.595C>T (p.Gln199Ter) rs908815575
NM_017739.4(POMGNT1):c.599C>T (p.Ala200Val) rs1658103117
NM_017739.4(POMGNT1):c.599del (p.Ala200fs)
NM_017739.4(POMGNT1):c.600T>A (p.Ala200=) rs2148205182
NM_017739.4(POMGNT1):c.603_618delinsTCCCTTCAGATTCCTGA (p.Ala203fs)
NM_017739.4(POMGNT1):c.607G>A (p.Ala203Thr) rs982953590
NM_017739.4(POMGNT1):c.60_63delinsGTGA (p.Ser20_Trp21delinsArgTer) rs1057516478
NM_017739.4(POMGNT1):c.615C>T (p.Gly205=)
NM_017739.4(POMGNT1):c.617G>A (p.Trp206Ter) rs1156647434
NM_017739.4(POMGNT1):c.61T>C (p.Trp21Arg) rs2148222670
NM_017739.4(POMGNT1):c.621G>A (p.Arg207=)
NM_017739.4(POMGNT1):c.623A>T (p.Asp208Val)
NM_017739.4(POMGNT1):c.624C>T (p.Asp208=) rs1553163762
NM_017739.4(POMGNT1):c.626C>T (p.Thr209Ile) rs1571664089
NM_017739.4(POMGNT1):c.628T>C (p.Trp210Arg) rs1658098171
NM_017739.4(POMGNT1):c.630G>T (p.Trp210Cys) rs386834033
NM_017739.4(POMGNT1):c.631G>A (p.Ala211Thr) rs1201476826
NM_017739.4(POMGNT1):c.640G>T (p.Gly214Ter)
NM_017739.4(POMGNT1):c.643C>A (p.Arg215=)
NM_017739.4(POMGNT1):c.652+11C>T
NM_017739.4(POMGNT1):c.652+12A>G rs1658093902
NM_017739.4(POMGNT1):c.652+18C>T
NM_017739.4(POMGNT1):c.652+18dup
NM_017739.4(POMGNT1):c.652+1G>A rs386834035
NM_017739.4(POMGNT1):c.652+3G>A
NM_017739.4(POMGNT1):c.652+7G>T rs2148204470
NM_017739.4(POMGNT1):c.652+8C>A
NM_017739.4(POMGNT1):c.652+9A>T
NM_017739.4(POMGNT1):c.653-15C>T rs2148203041
NM_017739.4(POMGNT1):c.653-20T>A
NM_017739.4(POMGNT1):c.653-2A>C rs1553163721
NM_017739.4(POMGNT1):c.653-2del
NM_017739.4(POMGNT1):c.653-5G>A
NM_017739.4(POMGNT1):c.653-7C>T
NM_017739.4(POMGNT1):c.656C>T (p.Pro219Leu) rs1244157163
NM_017739.4(POMGNT1):c.657T>C (p.Pro219=)
NM_017739.4(POMGNT1):c.658G>A (p.Val220Ile) rs1349291334
NM_017739.4(POMGNT1):c.660C>T (p.Val220=) rs2148202862
NM_017739.4(POMGNT1):c.663C>T (p.Phe221=) rs773920830
NM_017739.4(POMGNT1):c.664G>C (p.Gly222Arg)
NM_017739.4(POMGNT1):c.667G>A (p.Glu223Lys) rs386834036
NM_017739.4(POMGNT1):c.669G>C (p.Glu223Asp) rs1658072717
NM_017739.4(POMGNT1):c.672A>G (p.Lys224=) rs2148202699
NM_017739.4(POMGNT1):c.679_681delinsG (p.Lys227fs)
NM_017739.4(POMGNT1):c.686C>T (p.Pro229Leu)
NM_017739.4(POMGNT1):c.688G>A (p.Ala230Thr)
NM_017739.4(POMGNT1):c.689C>G (p.Ala230Gly) rs921366442
NM_017739.4(POMGNT1):c.693C>A (p.Leu231=) rs1341096609
NM_017739.4(POMGNT1):c.693C>T (p.Leu231=) rs1341096609
NM_017739.4(POMGNT1):c.699del (p.Trp234fs)
NM_017739.4(POMGNT1):c.6C>G (p.Asp2Glu)
NM_017739.4(POMGNT1):c.6C>T (p.Asp2=) rs375238770
NM_017739.4(POMGNT1):c.702G>A (p.Trp234Ter)
NM_017739.4(POMGNT1):c.703G>A (p.Gly235Arg) rs1658069732
NM_017739.4(POMGNT1):c.706G>A (p.Asp236Asn)
NM_017739.4(POMGNT1):c.706G>C (p.Asp236His) rs201525710
NM_017739.4(POMGNT1):c.70A>G (p.Thr24Ala) rs766907690
NM_017739.4(POMGNT1):c.711A>T (p.Pro237=)
NM_017739.4(POMGNT1):c.714C>A (p.Val238=) rs753911656
NM_017739.4(POMGNT1):c.714C>T (p.Val238=)
NM_017739.4(POMGNT1):c.717G>A (p.Leu239=)
NM_017739.4(POMGNT1):c.722A>G (p.Lys241Arg) rs2148202208
NM_017739.4(POMGNT1):c.727_728del (p.Asp243fs)
NM_017739.4(POMGNT1):c.72C>T (p.Thr24=)
NM_017739.4(POMGNT1):c.730G>A (p.Val244Met)
NM_017739.4(POMGNT1):c.732del (p.Pro245fs)
NM_017739.4(POMGNT1):c.747A>C (p.Ala249=) rs774008151
NM_017739.4(POMGNT1):c.749A>G (p.Glu250Gly)
NM_017739.4(POMGNT1):c.74_75delinsTT (p.Trp25Phe) rs2148222600
NM_017739.4(POMGNT1):c.751+11_751+13dup
NM_017739.4(POMGNT1):c.751+17A>T
NM_017739.4(POMGNT1):c.751+18T>C
NM_017739.4(POMGNT1):c.751+2T>G
NM_017739.4(POMGNT1):c.751+3G>A
NM_017739.4(POMGNT1):c.751+8T>C rs1553163692
NM_017739.4(POMGNT1):c.751+9A>G rs1658063475
NM_017739.4(POMGNT1):c.751+9A>T
NM_017739.4(POMGNT1):c.751G>A (p.Glu251Lys) rs2148201993
NM_017739.4(POMGNT1):c.752-11C>A rs2148200827
NM_017739.4(POMGNT1):c.752-17C>T
NM_017739.4(POMGNT1):c.752-18A>C
NM_017739.4(POMGNT1):c.752-18A>G
NM_017739.4(POMGNT1):c.752-19_752-18del rs2148200928
NM_017739.4(POMGNT1):c.752-2A>G rs1236287516
NM_017739.4(POMGNT1):c.752A>T (p.Glu251Val) rs2148200734
NM_017739.4(POMGNT1):c.756A>G (p.Ala252=) rs1658047083
NM_017739.4(POMGNT1):c.75G>A (p.Trp25Ter) rs1264635358
NM_017739.4(POMGNT1):c.75del (p.Thr24_Trp25insTer) rs2148222613
NM_017739.4(POMGNT1):c.768G>C (p.Trp256Cys)
NM_017739.4(POMGNT1):c.771A>G (p.Ala257=)
NM_017739.4(POMGNT1):c.780G>C (p.Glu260Asp)
NM_017739.4(POMGNT1):c.781C>T (p.Leu261=) rs2148200441
NM_017739.4(POMGNT1):c.782T>C (p.Leu261Pro)
NM_017739.4(POMGNT1):c.794G>C (p.Arg265Pro) rs386834010
NM_017739.4(POMGNT1):c.796C>A (p.Arg266=)
NM_017739.4(POMGNT1):c.7G>C (p.Asp3His) rs201637813
NM_017739.4(POMGNT1):c.804C>T (p.Phe268=) rs745902096
NM_017739.4(POMGNT1):c.806G>A (p.Cys269Tyr) rs386834037
NM_017739.4(POMGNT1):c.808A>G (p.Ser270Gly) rs1216011919
NM_017739.4(POMGNT1):c.81T>C (p.Tyr27=)
NM_017739.4(POMGNT1):c.821G>A (p.Gly274Asp) rs1557674820
NM_017739.4(POMGNT1):c.831T>C (p.Ser277=) rs2148199823
NM_017739.4(POMGNT1):c.834A>T (p.Val278=) rs1299228802
NM_017739.4(POMGNT1):c.842G>T (p.Cys281Phe) rs1658035130
NM_017739.4(POMGNT1):c.855A>G (p.Thr285=) rs2148199636
NM_017739.4(POMGNT1):c.857C>A (p.Pro286His)
NM_017739.4(POMGNT1):c.862G>T (p.Glu288Ter)
NM_017739.4(POMGNT1):c.871C>T (p.Pro291Ser)
NM_017739.4(POMGNT1):c.873T>C (p.Pro291=)
NM_017739.4(POMGNT1):c.874G>C (p.Asp292His) rs930277247
NM_017739.4(POMGNT1):c.875del (p.Asp292fs) rs1057517247
NM_017739.4(POMGNT1):c.876C>T (p.Asp292=) rs1658032176
NM_017739.4(POMGNT1):c.878del (p.Pro293fs) rs752389406
NM_017739.4(POMGNT1):c.879+19C>T
NM_017739.4(POMGNT1):c.879+1G>C rs1553163590
NM_017739.4(POMGNT1):c.879+2T>C rs1057516318
NM_017739.4(POMGNT1):c.879+2T>G
NM_017739.4(POMGNT1):c.879+5G>A rs386834038
NM_017739.4(POMGNT1):c.879+5G>T rs386834038
NM_017739.4(POMGNT1):c.879+9G>T rs1413491009
NM_017739.4(POMGNT1):c.87_90dup (p.Asn31fs)
NM_017739.4(POMGNT1):c.880-13A>C
NM_017739.4(POMGNT1):c.880-13A>G
NM_017739.4(POMGNT1):c.880-16G>A rs1658001956
NM_017739.4(POMGNT1):c.880-17C>T
NM_017739.4(POMGNT1):c.880-1G>A rs1317832573
NM_017739.4(POMGNT1):c.880-1G>C rs1317832573
NM_017739.4(POMGNT1):c.880-2A>G rs1057516830
NM_017739.4(POMGNT1):c.880-6C>T rs1557674387
NM_017739.4(POMGNT1):c.880-7C>T
NM_017739.4(POMGNT1):c.880-9C>T rs994516915
NM_017739.4(POMGNT1):c.882C>G (p.Leu294=) rs374590423
NM_017739.4(POMGNT1):c.882C>T (p.Leu294=)
NM_017739.4(POMGNT1):c.888C>T (p.Asp296=) rs369970994
NM_017739.4(POMGNT1):c.913G>T (p.Ala305Ser)
NM_017739.4(POMGNT1):c.914C>T (p.Ala305Val) rs2148196499
NM_017739.4(POMGNT1):c.915T>C (p.Ala305=)
NM_017739.4(POMGNT1):c.921T>A (p.Ile307=) rs71653997
NM_017739.4(POMGNT1):c.927G>T (p.Gly309=) rs1375679237
NM_017739.4(POMGNT1):c.931C>G (p.Arg311Gly)
NM_017739.4(POMGNT1):c.932G>C (p.Arg311Pro)
NM_017739.4(POMGNT1):c.936C>T (p.Pro312=)
NM_017739.4(POMGNT1):c.937A>C (p.Asn313His)
NM_017739.4(POMGNT1):c.938A>G (p.Asn313Ser)
NM_017739.4(POMGNT1):c.948C>T (p.Tyr316=)
NM_017739.4(POMGNT1):c.94C>T (p.Gln32Ter)
NM_017739.4(POMGNT1):c.94del (p.Gln32fs)
NM_017739.4(POMGNT1):c.950+15G>A
NM_017739.4(POMGNT1):c.950+17G>A
NM_017739.4(POMGNT1):c.950+17G>C
NM_017739.4(POMGNT1):c.950+17G>T
NM_017739.4(POMGNT1):c.950+19T>C
NM_017739.4(POMGNT1):c.950G>A (p.Arg317Lys) rs1657992159
NM_017739.4(POMGNT1):c.951-15C>T
NM_017739.4(POMGNT1):c.951-16T>C
NM_017739.4(POMGNT1):c.951-19C>G
NM_017739.4(POMGNT1):c.951-20C>T
NM_017739.4(POMGNT1):c.951-4C>T rs2148194982
NM_017739.4(POMGNT1):c.951-5C>T
NM_017739.4(POMGNT1):c.951-6C>T
NM_017739.4(POMGNT1):c.951-8C>G
NM_017739.4(POMGNT1):c.951-9G>T
NM_017739.4(POMGNT1):c.960C>T (p.Arg320=) rs146933218
NM_017739.4(POMGNT1):c.964_965del (p.Leu322fs)
NM_017739.4(POMGNT1):c.96G>A (p.Gln32=)
NM_017739.4(POMGNT1):c.97C>T (p.Arg33Trp) rs750839370
NM_017739.4(POMGNT1):c.981G>A (p.Gly327=)
NM_017739.4(POMGNT1):c.981G>C (p.Gly327=) rs1281332311
NM_017739.4(POMGNT1):c.982dup (p.Val328fs) rs386834040
NM_017739.4(POMGNT1):c.987del (p.Pro330fs) rs1057516955
NM_017739.4(POMGNT1):c.990_991insAA (p.Gln331fs)
NM_017739.4(POMGNT1):c.991C>T (p.Gln331Ter) rs1557673817
NM_017739.4(POMGNT1):c.997A>G (p.Ile333Val)
NM_017739.4(POMGNT1):c.99G>A (p.Arg33=)
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_020451.2(SELENON):c.-55_183del rs1572226620
NM_020451.2(SELENON):c.-64_36del rs1572226578
NM_020451.2(SELENON):c.1385G>A (p.Sec462=) rs587776597
NM_020451.3(SELENON):c.*1107T>C rs2048015293
NM_020451.3(SELENON):c.-10_135del (p.Met1fs)
NM_020451.3(SELENON):c.-11_81del (p.Met1fs) rs1557813850
NM_020451.3(SELENON):c.-21_183+6del
NM_020451.3(SELENON):c.-26_12del (p.Met1fs) rs2047846279
NM_020451.3(SELENON):c.-30_64del (p.Met1fs)
NM_020451.3(SELENON):c.1004A>G (p.Asn335Ser)
NM_020451.3(SELENON):c.1010+18G>A
NM_020451.3(SELENON):c.1010+7G>A
NM_020451.3(SELENON):c.1010+8C>T rs201711169
NM_020451.3(SELENON):c.1011-10G>A
NM_020451.3(SELENON):c.1011-1G>C rs1333001112
NM_020451.3(SELENON):c.102C>T (p.Leu34=)
NM_020451.3(SELENON):c.1042G>T (p.Gly348Trp) rs374499583
NM_020451.3(SELENON):c.1049G>C (p.Ser350Thr) rs777864718
NM_020451.3(SELENON):c.1059C>T (p.Ser353=)
NM_020451.3(SELENON):c.1072G>A (p.Asp358Asn) rs2047959221
NM_020451.3(SELENON):c.1078G>T (p.Gly360Cys) rs761873230
NM_020451.3(SELENON):c.1086dup (p.Pro363fs) rs2124450830
NM_020451.3(SELENON):c.108C>T (p.Ala36=)
NM_020451.3(SELENON):c.1092+6C>G rs148071754
NM_020451.3(SELENON):c.1092+6C>T rs148071754
NM_020451.3(SELENON):c.1092+8C>T
NM_020451.3(SELENON):c.1093-11C>T
NM_020451.3(SELENON):c.1093-18C>T
NM_020451.3(SELENON):c.1094T>C (p.Met365Thr) rs973033318
NM_020451.3(SELENON):c.109C>T (p.Leu37=)
NM_020451.3(SELENON):c.10G>T (p.Ala4Ser) rs1371866855
NM_020451.3(SELENON):c.1108A>T (p.Thr370Ser)
NM_020451.3(SELENON):c.1109C>T (p.Thr370Met)
NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp) rs745886248
NM_020451.3(SELENON):c.1118C>G (p.Ser373Cys)
NM_020451.3(SELENON):c.1122G>A (p.Val374=)
NM_020451.3(SELENON):c.1123C>A (p.Pro375Thr) rs1379278116
NM_020451.3(SELENON):c.1148GCA[1] (p.Ser384del) rs770747626
NM_020451.3(SELENON):c.1159G>A (p.Asp387Asn)
NM_020451.3(SELENON):c.1168del (p.Leu390fs)
NM_020451.3(SELENON):c.1170G>T (p.Leu390=) rs2124451191
NM_020451.3(SELENON):c.1175C>T (p.Ser392Leu) rs758620314
NM_020451.3(SELENON):c.1176del (p.Glu394fs)
NM_020451.3(SELENON):c.1179G>A (p.Gly393=)
NM_020451.3(SELENON):c.1180G>T (p.Glu394Ter) rs747284477
NM_020451.3(SELENON):c.1189C>T (p.Gln397Ter)
NM_020451.3(SELENON):c.1195G>C (p.Val399Leu) rs1337260819
NM_020451.3(SELENON):c.1197G>A (p.Val399=)
NM_020451.3(SELENON):c.1201GAG[1] (p.Glu402del) rs1197764943
NM_020451.3(SELENON):c.1207A>G (p.Ile403Val)
NM_020451.3(SELENON):c.1222G>T (p.Glu408Ter)
NM_020451.3(SELENON):c.1227G>A (p.Leu409=)
NM_020451.3(SELENON):c.123C>A (p.Ala41=) rs1251781281
NM_020451.3(SELENON):c.123C>T (p.Ala41=) rs1251781281
NM_020451.3(SELENON):c.125_136dup (p.Ala42_Ala45dup) rs999744359
NM_020451.3(SELENON):c.1269C>T (p.Tyr423=)
NM_020451.3(SELENON):c.126T>A (p.Ala42=)
NM_020451.3(SELENON):c.126_134dup (p.Ala43_Ala45dup) rs1161050482
NM_020451.3(SELENON):c.1270C>A (p.Pro424Thr)
NM_020451.3(SELENON):c.1281+11G>A
NM_020451.3(SELENON):c.1281+7C>T
NM_020451.3(SELENON):c.1282-12G>A rs2124452801
NM_020451.3(SELENON):c.1282-13G>A
NM_020451.3(SELENON):c.1282-1G>T
NM_020451.3(SELENON):c.1282-3C>G rs1040390429
NM_020451.3(SELENON):c.1282-3C>T
NM_020451.3(SELENON):c.1296G>A (p.Pro432=)
NM_020451.3(SELENON):c.1297T>G (p.Phe433Val)
NM_020451.3(SELENON):c.1299C>T (p.Phe433=)
NM_020451.3(SELENON):c.1301C>G (p.Thr434Ser)
NM_020451.3(SELENON):c.1314_1317del (p.Asp438fs) rs2124452873
NM_020451.3(SELENON):c.1332_1334del (p.Asn444del) rs1553120691
NM_020451.3(SELENON):c.1338G>A (p.Leu446=)
NM_020451.3(SELENON):c.1341G>A (p.Val447=)
NM_020451.3(SELENON):c.1350C>G (p.Ile450Met) rs797045949
NM_020451.3(SELENON):c.1351C>G (p.Leu451Val) rs200431320
NM_020451.3(SELENON):c.1351C>T (p.Leu451=)
NM_020451.3(SELENON):c.1355T>C (p.Leu452Pro)
NM_020451.3(SELENON):c.1362G>A (p.Gly454=) rs1465837515
NM_020451.3(SELENON):c.1367T>G (p.Leu456Arg) rs2047977658
NM_020451.3(SELENON):c.1369G>T (p.Asp457Tyr) rs2047977673
NM_020451.3(SELENON):c.136G>A (p.Val46Ile) rs2124436757
NM_020451.3(SELENON):c.1377G>C (p.Gln459His)
NM_020451.3(SELENON):c.1379C>T (p.Ser460Phe) rs767530943
NM_020451.3(SELENON):c.1384T>G rs121908187
NM_020451.3(SELENON):c.1386A>G rs1557433091
NM_020451.3(SELENON):c.1387+14C>G
NM_020451.3(SELENON):c.1387+1G>A rs2047977957
NM_020451.3(SELENON):c.1388-12C>T
NM_020451.3(SELENON):c.1388-1G>C
NM_020451.3(SELENON):c.1388-6G>C
NM_020451.3(SELENON):c.13_22dup (p.Gln8fs) rs797044621
NM_020451.3(SELENON):c.1406G>A (p.Arg469Gln) rs779162837
NM_020451.3(SELENON):c.1415T>C (p.Val472Ala) rs2124454571
NM_020451.3(SELENON):c.1421_1422insC (p.Glu474fs)
NM_020451.3(SELENON):c.1427C>G (p.Ser476Trp) rs368377980
NM_020451.3(SELENON):c.142del (p.Val48fs)
NM_020451.3(SELENON):c.1446del (p.Asn483fs) rs2124454648
NM_020451.3(SELENON):c.1450G>A (p.Glu484Lys) rs727504149
NM_020451.3(SELENON):c.1465_1466del (p.Thr489fs) rs2047988020
NM_020451.3(SELENON):c.1477G>C (p.Val493Leu) rs1465319326
NM_020451.3(SELENON):c.1499dup (p.Asn501fs)
NM_020451.3(SELENON):c.1500+16G>A
NM_020451.3(SELENON):c.1500+20del
NM_020451.3(SELENON):c.1504A>T (p.Asn502Tyr)
NM_020451.3(SELENON):c.1510_1512del (p.Glu504del) rs1247672340
NM_020451.3(SELENON):c.1524C>A (p.His508Gln) rs1198379415
NM_020451.3(SELENON):c.1524C>G (p.His508Gln)
NM_020451.3(SELENON):c.152G>A (p.Arg51His)
NM_020451.3(SELENON):c.1534G>A (p.Ala512Thr) rs1358541711
NM_020451.3(SELENON):c.1549_1551del (p.Glu517del)
NM_020451.3(SELENON):c.1567G>A (p.Val523Met)
NM_020451.3(SELENON):c.156C>T (p.His52=)
NM_020451.3(SELENON):c.1572GAT[2] (p.Met526del) rs2047990479
NM_020451.3(SELENON):c.1589C>T (p.Pro530Leu) rs1209522007
NM_020451.3(SELENON):c.1602+10C>G
NM_020451.3(SELENON):c.1602+16C>T
NM_020451.3(SELENON):c.1602+17A>G
NM_020451.3(SELENON):c.1602+18G>A
NM_020451.3(SELENON):c.1602+1G>A rs751927853
NM_020451.3(SELENON):c.1602+4G>A rs2047990840
NM_020451.3(SELENON):c.1603-15C>G
NM_020451.3(SELENON):c.1603-15C>T
NM_020451.3(SELENON):c.1603-1G>C rs2124456702
NM_020451.3(SELENON):c.1603-9T>C rs376978932
NM_020451.3(SELENON):c.1605C>G (p.Val535=)
NM_020451.3(SELENON):c.160G>T (p.Glu54Ter) rs2047850525
NM_020451.3(SELENON):c.1650G>C (p.Lys550Asn)
NM_020451.3(SELENON):c.1651C>G (p.Pro551Ala) rs2124456811
NM_020451.3(SELENON):c.1653C>T (p.Pro551=)
NM_020451.3(SELENON):c.1656G>A (p.Glu552=)
NM_020451.3(SELENON):c.1662C>G (p.Ile554Met)
NM_020451.3(SELENON):c.1662C>T (p.Ile554=)
NM_020451.3(SELENON):c.166C>T (p.Gln56Ter) rs1557814050
NM_020451.3(SELENON):c.1674C>T (p.Leu558=)
NM_020451.3(SELENON):c.167A>C (p.Gln56Pro)
NM_020451.3(SELENON):c.1691C>T (p.Thr564Ile)
NM_020451.3(SELENON):c.16C>T (p.Pro6Ser)
NM_020451.3(SELENON):c.1703C>T (p.Pro568Leu) rs367859333
NM_020451.3(SELENON):c.1710G>A (p.Thr570=) rs371398538
NM_020451.3(SELENON):c.1710G>C (p.Thr570=) rs371398538
NM_020451.3(SELENON):c.1730T>C (p.Leu577Pro)
NM_020451.3(SELENON):c.1744C>G (p.Arg582Gly) rs373530866
NM_020451.3(SELENON):c.1747C>T (p.Arg583Cys) rs758590388
NM_020451.3(SELENON):c.1759C>G (p.Leu587Val)
NM_020451.3(SELENON):c.1761C>T (p.Leu587=)
NM_020451.3(SELENON):c.1764C>T (p.Leu588=)
NM_020451.3(SELENON):c.180del (p.Gln61fs) rs1557814066
NM_020451.3(SELENON):c.183+3C>T rs2047850845
NM_020451.3(SELENON):c.184-10T>C rs2124437547
NM_020451.3(SELENON):c.184-12C>T
NM_020451.3(SELENON):c.184-16C>G
NM_020451.3(SELENON):c.184-18G>A
NM_020451.3(SELENON):c.184-3C>G
NM_020451.3(SELENON):c.184-3C>T rs1035976243
NM_020451.3(SELENON):c.184-6A>C rs2124437550
NM_020451.3(SELENON):c.188T>G (p.Leu63Arg) rs1557814336
NM_020451.3(SELENON):c.18G>A (p.Pro6=) rs1572226803
NM_020451.3(SELENON):c.18_46del (p.Gly7fs) rs2124436429
NM_020451.3(SELENON):c.19_47dup (p.Ala18fs) rs2047848157
NM_020451.3(SELENON):c.200C>A (p.Thr67Asn)
NM_020451.3(SELENON):c.216C>G (p.Gly72=) rs747665368
NM_020451.3(SELENON):c.227T>C (p.Phe76Ser) rs2124437633
NM_020451.3(SELENON):c.246C>T (p.Asp82=)
NM_020451.3(SELENON):c.249_250dup (p.Asp84fs) rs1553198611
NM_020451.3(SELENON):c.257A>G (p.Tyr86Cys) rs1019702401
NM_020451.3(SELENON):c.270G>A (p.Glu90=) rs1442343296
NM_020451.3(SELENON):c.271G>A (p.Glu91Lys)
NM_020451.3(SELENON):c.273G>C (p.Glu91Asp)
NM_020451.3(SELENON):c.276C>A (p.Phe92Leu) rs756673739
NM_020451.3(SELENON):c.276C>T (p.Phe92=)
NM_020451.3(SELENON):c.28G>A (p.Gly10Arg)
NM_020451.3(SELENON):c.296T>A (p.Leu99Gln)
NM_020451.3(SELENON):c.2T>C (p.Met1Thr) rs1174570887
NM_020451.3(SELENON):c.2T>G (p.Met1Arg) rs1174570887
NM_020451.3(SELENON):c.301+5C>T
NM_020451.3(SELENON):c.302-16T>G
NM_020451.3(SELENON):c.302-18T>C rs2124438895
NM_020451.3(SELENON):c.302-1G>C
NM_020451.3(SELENON):c.302-2_302-1del
NM_020451.3(SELENON):c.302-3C>G rs1327559756
NM_020451.3(SELENON):c.30G>C (p.Gly10=)
NM_020451.3(SELENON):c.311C>T (p.Ser104Phe) rs2124438957
NM_020451.3(SELENON):c.339C>T (p.Cys113=)
NM_020451.3(SELENON):c.33G>A (p.Pro11=) rs2047848510
NM_020451.3(SELENON):c.367C>T (p.Pro123Ser)
NM_020451.3(SELENON):c.36C>T (p.Pro12=)
NM_020451.3(SELENON):c.377A>G (p.Asn126Ser)
NM_020451.3(SELENON):c.378T>C (p.Asn126=) rs2047865928
NM_020451.3(SELENON):c.390C>T (p.Cys130=)
NM_020451.3(SELENON):c.39C>T (p.Ser13=)
NM_020451.3(SELENON):c.402_403+2del rs773670891
NM_020451.3(SELENON):c.403+14C>T
NM_020451.3(SELENON):c.403+15dup
NM_020451.3(SELENON):c.404-19C>T
NM_020451.3(SELENON):c.404-1G>A rs1005071009
NM_020451.3(SELENON):c.404-7C>A
NM_020451.3(SELENON):c.410C>T (p.Thr137Ile) rs2047894839
NM_020451.3(SELENON):c.427GAG[5] (p.Glu146dup) rs141295085
NM_020451.3(SELENON):c.44_72dup (p.Arg25fs) rs797044620
NM_020451.3(SELENON):c.455G>T (p.Ser152Ile) rs762382665
NM_020451.3(SELENON):c.456C>G (p.Ser152Arg) rs202188924
NM_020451.3(SELENON):c.464C>T (p.Thr155Met)
NM_020451.3(SELENON):c.472A>G (p.Ile158Val) rs2047895777
NM_020451.3(SELENON):c.473T>C (p.Ile158Thr)
NM_020451.3(SELENON):c.51C>G (p.Ala17=)
NM_020451.3(SELENON):c.538-1G>A rs2047928865
NM_020451.3(SELENON):c.538-1G>C rs2047928865
NM_020451.3(SELENON):c.538-3C>T rs1572232433
NM_020451.3(SELENON):c.538-8C>A
NM_020451.3(SELENON):c.538-8C>T rs538835367
NM_020451.3(SELENON):c.538G>A (p.Val180Ile) rs751053087
NM_020451.3(SELENON):c.542C>T (p.Ser181Phe)
NM_020451.3(SELENON):c.544C>T (p.Arg182Cys)
NM_020451.3(SELENON):c.549C>T (p.Leu183=)
NM_020451.3(SELENON):c.54G>T (p.Ala18=)
NM_020451.3(SELENON):c.550G>A (p.Ala184Thr) rs199742668
NM_020451.3(SELENON):c.553C>T (p.Leu185=)
NM_020451.3(SELENON):c.559G>A (p.Gly187Ser)
NM_020451.3(SELENON):c.572G>A (p.Trp191Ter) rs2047929645
NM_020451.3(SELENON):c.577G>A (p.Ala193Thr)
NM_020451.3(SELENON):c.580G>A (p.Ala194Thr) rs560203077
NM_020451.3(SELENON):c.580G>C (p.Ala194Pro) rs560203077
NM_020451.3(SELENON):c.58C>T (p.Pro20Ser) rs1329648911
NM_020451.3(SELENON):c.59C>T (p.Pro20Leu)
NM_020451.3(SELENON):c.600_601del (p.Phe201fs)
NM_020451.3(SELENON):c.608C>A (p.Thr203Asn)
NM_020451.3(SELENON):c.627C>T (p.Phe209=)
NM_020451.3(SELENON):c.633C>A (p.Pro211=) rs1386434021
NM_020451.3(SELENON):c.633C>T (p.Pro211=)
NM_020451.3(SELENON):c.635C>T (p.Pro212Leu)
NM_020451.3(SELENON):c.636G>A (p.Pro212=)
NM_020451.3(SELENON):c.643del (p.Gln215fs) rs2047931126
NM_020451.3(SELENON):c.650T>C (p.Leu217Pro)
NM_020451.3(SELENON):c.651G>A (p.Leu217=)
NM_020451.3(SELENON):c.65C>T (p.Ala22Val) rs2047849177
NM_020451.3(SELENON):c.660C>A (p.Pro220=) rs2124447361
NM_020451.3(SELENON):c.665G>A (p.Trp222Ter) rs1553120047
NM_020451.3(SELENON):c.668T>A (p.Ile223Asn) rs1299656382
NM_020451.3(SELENON):c.672C>A (p.Ile224=)
NM_020451.3(SELENON):c.683_689dup (p.Met230fs) rs1553120055
NM_020451.3(SELENON):c.686G>C (p.Ser229Thr) rs56169842
NM_020451.3(SELENON):c.697G>A (p.Gly233Ser) rs2124447513
NM_020451.3(SELENON):c.69_76dup (p.Arg26fs)
NM_020451.3(SELENON):c.700_701insC (p.Tyr234fs) rs2124447526
NM_020451.3(SELENON):c.703C>T (p.Leu235=)
NM_020451.3(SELENON):c.713dup (p.Asn238fs) rs368104077
NM_020451.3(SELENON):c.726A>G (p.Pro242=)
NM_020451.3(SELENON):c.728C>T (p.Pro243Leu) rs745856385
NM_020451.3(SELENON):c.737A>G (p.Lys246Arg) rs2047932738
NM_020451.3(SELENON):c.744G>A (p.Lys248=)
NM_020451.3(SELENON):c.746A>T (p.Glu249Val) rs2047932867
NM_020451.3(SELENON):c.746_747+36del rs2047932848
NM_020451.3(SELENON):c.747+16G>C
NM_020451.3(SELENON):c.747+19C>T
NM_020451.3(SELENON):c.748-11G>A
NM_020451.3(SELENON):c.748-12C>T
NM_020451.3(SELENON):c.748-12del rs2124447905
NM_020451.3(SELENON):c.748-2_760del rs758934983
NM_020451.3(SELENON):c.748-8G>A
NM_020451.3(SELENON):c.760C>G (p.Arg254Gly) rs374195814
NM_020451.3(SELENON):c.760C>T (p.Arg254Trp) rs374195814
NM_020451.3(SELENON):c.773del (p.Met258fs)
NM_020451.3(SELENON):c.795G>A (p.Val265=)
NM_020451.3(SELENON):c.7C>G (p.Arg3Gly) rs866566089
NM_020451.3(SELENON):c.814C>G (p.Gln272Glu) rs2047935649
NM_020451.3(SELENON):c.816G>C (p.Gln272His)
NM_020451.3(SELENON):c.817G>A (p.Gly273Arg) rs2124448034
NM_020451.3(SELENON):c.818G>A (p.Gly273Glu) rs121908182
NM_020451.3(SELENON):c.820G>C (p.Ala274Pro)
NM_020451.3(SELENON):c.821C>G (p.Ala274Gly)
NM_020451.3(SELENON):c.827_829dup (p.Ala276_Cys277insSer) rs797045950
NM_020451.3(SELENON):c.828C>T (p.Ala276=) rs1337830180
NM_020451.3(SELENON):c.82G>T (p.Ala28Ser) rs1286430947
NM_020451.3(SELENON):c.863_864del (p.Val288fs) rs1184282261
NM_020451.3(SELENON):c.86G>A (p.Arg29His) rs1349760554
NM_020451.3(SELENON):c.872+13C>T
NM_020451.3(SELENON):c.872+15C>A
NM_020451.3(SELENON):c.872+17G>T rs754933685
NM_020451.3(SELENON):c.872+1G>A rs2047936719
NM_020451.3(SELENON):c.872+2T>C rs794727808
NM_020451.3(SELENON):c.873-2A>G rs1176143542
NM_020451.3(SELENON):c.875T>A (p.Ile292Asn) rs2047941221
NM_020451.3(SELENON):c.877C>T (p.His293Tyr)
NM_020451.3(SELENON):c.882C>G (p.Ala294=) rs201631363
NM_020451.3(SELENON):c.890_981dup (p.Asp328fs)
NM_020451.3(SELENON):c.897T>C (p.Ser299=) rs1243423026
NM_020451.3(SELENON):c.8_12dup (p.Arg5fs) rs1572226744
NM_020451.3(SELENON):c.8_9insTGCCGGGCCG (p.Arg5fs) rs2124436380
NM_020451.3(SELENON):c.906C>T (p.Pro302=)
NM_020451.3(SELENON):c.921G>A (p.Trp307Ter) rs1553120202
NM_020451.3(SELENON):c.943G>C (p.Gly315Arg) rs121908188
NM_020451.3(SELENON):c.94G>C (p.Ala32Pro)
NM_020451.3(SELENON):c.957C>G (p.Leu319=) rs377537585
NM_020451.3(SELENON):c.957C>T (p.Leu319=) rs377537585
NM_020451.3(SELENON):c.963dup (p.Asp322fs)
NM_020451.3(SELENON):c.975C>T (p.His325=)
NM_020451.3(SELENON):c.977T>G (p.Val326Gly) rs2047942764
NM_020451.3(SELENON):c.997_1000del (p.Val333fs) rs886041686
NM_020451.3(SELENON):c.99G>C (p.Leu33=) rs1319643846
NM_020451.3(SELENON):c.99G>T (p.Leu33=)
NM_020451.3(SELENON):c.9_33del (p.Ala4fs) rs886041619
NM_021971.2(GMPPB):c.[1000G>A];[951+1G>A]
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn) rs397509422
NM_021971.4(GMPPB):c.1009T>C (p.Tyr337His) rs1553691683
NM_021971.4(GMPPB):c.1026C>T (p.Ser342=)
NM_021971.4(GMPPB):c.1027G>A (p.Val343Met)
NM_021971.4(GMPPB):c.1036C>T (p.His346Tyr)
NM_021971.4(GMPPB):c.1039_1042dup (p.Ser348Ter) rs1210040661
NM_021971.4(GMPPB):c.1040A>G (p.Lys347Arg) rs776117691
NM_021971.4(GMPPB):c.1046T>C (p.Ile349Thr)
NM_021971.4(GMPPB):c.1051_1054dup (p.Ser352Ter)
NM_021971.4(GMPPB):c.106C>T (p.His36Tyr)
NM_021971.4(GMPPB):c.1071T>A (p.Arg357=)
NM_021971.4(GMPPB):c.1077C>G (p.Ile359Met) rs1553691662
NM_021971.4(GMPPB):c.1082G>A (p.Ter361=)
NM_021971.4(GMPPB):c.109C>T (p.Gln37Ter) rs1348189028
NM_021971.4(GMPPB):c.116A>G (p.Glu39Gly) rs1575297274
NM_021971.4(GMPPB):c.128C>T (p.Ala43Val) rs2080459950
NM_021971.4(GMPPB):c.129+1G>T rs2108213393
NM_021971.4(GMPPB):c.129+3A>G
NM_021971.4(GMPPB):c.129+6A>C
NM_021971.4(GMPPB):c.129+7C>T rs748350135
NM_021971.4(GMPPB):c.129G>A (p.Ala43=) rs2108213396
NM_021971.4(GMPPB):c.130-2A>C
NM_021971.4(GMPPB):c.132_141del (p.Gly45fs)
NM_021971.4(GMPPB):c.135C>T (p.Gly45=) rs1426684077
NM_021971.4(GMPPB):c.150C>T (p.Ile50=)
NM_021971.4(GMPPB):c.159G>T (p.Val53=) rs1575296935
NM_021971.4(GMPPB):c.15C>A (p.Ile5=) rs1464233491
NM_021971.4(GMPPB):c.15C>G (p.Ile5Met) rs1464233491
NM_021971.4(GMPPB):c.170_171delinsTC (p.Ser57Phe)
NM_021971.4(GMPPB):c.183G>C (p.Glu61Asp)
NM_021971.4(GMPPB):c.188A>C (p.Glu63Ala)
NM_021971.4(GMPPB):c.191T>G (p.Met64Arg)
NM_021971.4(GMPPB):c.210+20C>A rs1360110702
NM_021971.4(GMPPB):c.210+9_210+10del rs776779111
NM_021971.4(GMPPB):c.211-13CT[3]
NM_021971.4(GMPPB):c.211-14C>G rs2108212935
NM_021971.4(GMPPB):c.211-15dup rs368719215
NM_021971.4(GMPPB):c.211-17G>T
NM_021971.4(GMPPB):c.211-20G>A
NM_021971.4(GMPPB):c.215G>A (p.Gly72Glu) rs1245162935
NM_021971.4(GMPPB):c.218T>C (p.Ile73Thr) rs1553692045
NM_021971.4(GMPPB):c.21G>T (p.Val7=)
NM_021971.4(GMPPB):c.220C>T (p.Arg74Ter) rs397509423
NM_021971.4(GMPPB):c.221G>C (p.Arg74Pro)
NM_021971.4(GMPPB):c.225del (p.Ser76fs)
NM_021971.4(GMPPB):c.244G>A (p.Glu82Lys)
NM_021971.4(GMPPB):c.247C>G (p.Pro83Ala) rs2080451480
NM_021971.4(GMPPB):c.259+19G>A
NM_021971.4(GMPPB):c.259+3C>G
NM_021971.4(GMPPB):c.259+6T>C rs2080451289
NM_021971.4(GMPPB):c.259+9A>C rs2108212798
NM_021971.4(GMPPB):c.260-13C>G
NM_021971.4(GMPPB):c.260-7C>T
NM_021971.4(GMPPB):c.264G>A (p.Gly88=)
NM_021971.4(GMPPB):c.271G>A (p.Ala91Thr)
NM_021971.4(GMPPB):c.271_283del (p.Ala91fs) rs1191822017
NM_021971.4(GMPPB):c.287_307del (p.Leu96_Asp102del) rs1559697587
NM_021971.4(GMPPB):c.288A>G (p.Leu96=)
NM_021971.4(GMPPB):c.288_290dup (p.Leu97dup) rs777323266
NM_021971.4(GMPPB):c.291C>T (p.Leu97=)
NM_021971.4(GMPPB):c.296A>G (p.Glu99Gly)
NM_021971.4(GMPPB):c.297G>C (p.Glu99Asp)
NM_021971.4(GMPPB):c.299C>T (p.Thr100Ile) rs1359728758
NM_021971.4(GMPPB):c.304G>A (p.Asp102Asn) rs368542417
NM_021971.4(GMPPB):c.308C>T (p.Pro103Leu) rs875989851
NM_021971.4(GMPPB):c.312C>A (p.Phe104Leu)
NM_021971.4(GMPPB):c.315C>T (p.Phe105=) rs1354442227
NM_021971.4(GMPPB):c.331G>A (p.Val111Met) rs141201072
NM_021971.4(GMPPB):c.338G>A (p.Cys113Tyr)
NM_021971.4(GMPPB):c.340G>T (p.Asp114Tyr)
NM_021971.4(GMPPB):c.358A>G (p.Met120Val) rs1559697515
NM_021971.4(GMPPB):c.365_366dup (p.Phe123fs) rs1553691975
NM_021971.4(GMPPB):c.36G>A (p.Thr12=)
NM_021971.4(GMPPB):c.374G>A (p.Arg125Gln) rs758366693
NM_021971.4(GMPPB):c.388G>A (p.Glu130Lys) rs367734644
NM_021971.4(GMPPB):c.388_389delinsAG (p.Glu130Arg) rs2080445379
NM_021971.4(GMPPB):c.38G>T (p.Arg13Leu) rs1183380163
NM_021971.4(GMPPB):c.402+16T>G
NM_021971.4(GMPPB):c.402+7C>T rs746420101
NM_021971.4(GMPPB):c.403-10T>G rs998425223
NM_021971.4(GMPPB):c.403-5T>C rs1559697285
NM_021971.4(GMPPB):c.433G>A (p.Gly145Ser) rs771732077
NM_021971.4(GMPPB):c.434G>C (p.Gly145Ala) rs2080436965
NM_021971.4(GMPPB):c.458_459del (p.Thr153fs) rs1553691918
NM_021971.4(GMPPB):c.465C>T (p.Arg155=) rs2080436229
NM_021971.4(GMPPB):c.472C>T (p.Arg158Trp)
NM_021971.4(GMPPB):c.473G>C (p.Arg158Pro) rs374497499
NM_021971.4(GMPPB):c.478G>C (p.Val160Leu) rs752805529
NM_021971.4(GMPPB):c.503C>A (p.Ser168Tyr)
NM_021971.4(GMPPB):c.506A>G (p.Asn169Ser)
NM_021971.4(GMPPB):c.510G>C (p.Lys170Asn) rs2080435262
NM_021971.4(GMPPB):c.524T>C (p.Met175Thr)
NM_021971.4(GMPPB):c.535A>G (p.Ser179Gly) rs2080434558
NM_021971.4(GMPPB):c.543A>G (p.Ala181=) rs2080434465
NM_021971.4(GMPPB):c.561+13C>G
NM_021971.4(GMPPB):c.561+14A>G rs1403713701
NM_021971.4(GMPPB):c.561+18G>A
NM_021971.4(GMPPB):c.562-7C>G rs2108211626
NM_021971.4(GMPPB):c.563T>C (p.Leu188Pro) rs781132109
NM_021971.4(GMPPB):c.569C>G (p.Pro190Arg) rs1559697016
NM_021971.4(GMPPB):c.584A>G (p.Lys195Arg)
NM_021971.4(GMPPB):c.584AGG[1] (p.Glu196del)
NM_021971.4(GMPPB):c.586G>C (p.Glu196Gln)
NM_021971.4(GMPPB):c.589G>T (p.Val197Phe) rs2080431779
NM_021971.4(GMPPB):c.600T>C (p.Ile200=)
NM_021971.4(GMPPB):c.607_609del (p.Lys203del) rs1553691853
NM_021971.4(GMPPB):c.612G>A (p.Glu204=)
NM_021971.4(GMPPB):c.614G>A (p.Gly205Glu)
NM_021971.4(GMPPB):c.615G>A (p.Gly205=)
NM_021971.4(GMPPB):c.618G>A (p.Gln206=) rs2108211544
NM_021971.4(GMPPB):c.618dup (p.Leu207fs)
NM_021971.4(GMPPB):c.619C>T (p.Leu207=) rs2108211541
NM_021971.4(GMPPB):c.62C>A (p.Thr21Asn) rs1438380704
NM_021971.4(GMPPB):c.638A>G (p.Gln213Arg) rs2080430729
NM_021971.4(GMPPB):c.640+15C>T
NM_021971.4(GMPPB):c.640+1G>A rs141588721
NM_021971.4(GMPPB):c.641-10C>T rs1438419966
NM_021971.4(GMPPB):c.641-11C>T
NM_021971.4(GMPPB):c.641-14A>C
NM_021971.4(GMPPB):c.641-19_641-9del rs2080428796
NM_021971.4(GMPPB):c.64C>T (p.Pro22Ser) rs397509424
NM_021971.4(GMPPB):c.654C>T (p.Asp218=)
NM_021971.4(GMPPB):c.65C>T (p.Pro22Leu)
NM_021971.4(GMPPB):c.663G>A (p.Gln221=) rs2108211356
NM_021971.4(GMPPB):c.684dup (p.Met229fs) rs2080427976
NM_021971.4(GMPPB):c.68A>G (p.Lys23Arg)
NM_021971.4(GMPPB):c.699G>A (p.Leu233=)
NM_021971.4(GMPPB):c.714G>T (p.Gln238His)
NM_021971.4(GMPPB):c.71C>T (p.Pro24Leu) rs2108213481
NM_021971.4(GMPPB):c.728_746delinsACAGA (p.Arg243fs) rs2080426663
NM_021971.4(GMPPB):c.741C>T (p.Gly247=) rs2108211246
NM_021971.4(GMPPB):c.746G>A (p.Gly249Asp) rs994922049
NM_021971.4(GMPPB):c.757A>G (p.Asn253Asp) rs1015055492
NM_021971.4(GMPPB):c.758A>G (p.Asn253Ser) rs1559696765
NM_021971.4(GMPPB):c.768+13C>T
NM_021971.4(GMPPB):c.769-10C>G rs2108211080
NM_021971.4(GMPPB):c.769-20_769-17dup rs764253773
NM_021971.4(GMPPB):c.769-2A>G rs2080423660
NM_021971.4(GMPPB):c.786C>G (p.Ile262Met) rs201123231
NM_021971.4(GMPPB):c.790C>T (p.Gln264Ter) rs763971677
NM_021971.4(GMPPB):c.792G>C (p.Gln264His) rs1559696652
NM_021971.4(GMPPB):c.805G>T (p.Gly269Cys)
NM_021971.4(GMPPB):c.813T>C (p.Asn271=)
NM_021971.4(GMPPB):c.819C>T (p.Ser273=) rs774498980
NM_021971.4(GMPPB):c.827C>T (p.Pro276Leu) rs766298888
NM_021971.4(GMPPB):c.828T>C (p.Pro276=) rs200706198
NM_021971.4(GMPPB):c.832G>A (p.Val278Met)
NM_021971.4(GMPPB):c.840C>G (p.Val280=) rs763668055
NM_021971.4(GMPPB):c.840C>T (p.Val280=)
NM_021971.4(GMPPB):c.841G>A (p.Glu281Lys)
NM_021971.4(GMPPB):c.850G>A (p.Val284Met) rs2108210918
NM_021971.4(GMPPB):c.854G>T (p.Cys285Phe) rs2108210916
NM_021971.4(GMPPB):c.854_855del (p.Cys285fs)
NM_021971.4(GMPPB):c.859C>A (p.Arg287=) rs142908436
NM_021971.4(GMPPB):c.862C>T (p.Arg288Trp)
NM_021971.4(GMPPB):c.863G>C (p.Arg288Pro) rs769346834
NM_021971.4(GMPPB):c.878G>A (p.Arg293Gln) rs748809549
NM_021971.4(GMPPB):c.903C>G (p.Ser301=) rs2108210840
NM_021971.4(GMPPB):c.907C>T (p.Leu303Phe) rs2080420731
NM_021971.4(GMPPB):c.918C>G (p.Cys306Trp) rs1186936513
NM_021971.4(GMPPB):c.923T>G (p.Val308Gly) rs750488885
NM_021971.4(GMPPB):c.927C>A (p.Gly309=)
NM_021971.4(GMPPB):c.929G>T (p.Trp310Leu)
NM_021971.4(GMPPB):c.935G>C (p.Cys312Ser)
NM_021971.4(GMPPB):c.936C>T (p.Cys312=) rs2108210776
NM_021971.4(GMPPB):c.938G>T (p.Arg313Leu) rs775910135
NM_021971.4(GMPPB):c.940G>A (p.Val314Met) rs1343235792
NM_021971.4(GMPPB):c.940G>T (p.Val314Leu) rs1343235792
NM_021971.4(GMPPB):c.948G>C (p.Gln316His)
NM_021971.4(GMPPB):c.94C>T (p.Pro32Ser) rs1575297292
NM_021971.4(GMPPB):c.951+18G>T rs2108210687
NM_021971.4(GMPPB):c.951+9G>T rs55816606
NM_021971.4(GMPPB):c.951G>A (p.Trp317Ter)
NM_021971.4(GMPPB):c.951G>T (p.Trp317Cys)
NM_021971.4(GMPPB):c.952-12C>T
NM_021971.4(GMPPB):c.952-15T>C
NM_021971.4(GMPPB):c.952-17C>T
NM_021971.4(GMPPB):c.952-21_952-17dup
NM_021971.4(GMPPB):c.952-2A>G rs372512288
NM_021971.4(GMPPB):c.952-5del
NM_021971.4(GMPPB):c.967G>A (p.Val323Met) rs758284245
NM_021971.4(GMPPB):c.967G>T (p.Val323Leu) rs758284245
NM_021971.4(GMPPB):c.972A>G (p.Thr324=)
NM_021971.4(GMPPB):c.972dup (p.Val325fs)
NM_021971.4(GMPPB):c.984G>A (p.Glu328=) rs2108210451
NM_021971.4(GMPPB):c.997A>T (p.Asn333Tyr) rs2080415182
NM_024301.5(FKRP):c.-39-2934_564del
NM_024301.5(FKRP):c.1000G>A (p.Glu334Lys) rs2054926451
NM_024301.5(FKRP):c.1000G>T (p.Glu334Ter)
NM_024301.5(FKRP):c.1000_1017dup (p.Glu334_Arg339dup) rs1599938256
NM_024301.5(FKRP):c.1006G>A (p.Ala336Thr) rs2054926771
NM_024301.5(FKRP):c.1007C>T (p.Ala336Val) rs1555738924
NM_024301.5(FKRP):c.1008G>T (p.Ala336=) rs748542420
NM_024301.5(FKRP):c.1012G>T (p.Val338Leu) rs1173430388
NM_024301.5(FKRP):c.1014G>C (p.Val338=) rs1405798829
NM_024301.5(FKRP):c.1015C>A (p.Arg339Ser) rs2122629515
NM_024301.5(FKRP):c.1015C>G (p.Arg339Gly)
NM_024301.5(FKRP):c.1016G>A (p.Arg339His) rs1450841129
NM_024301.5(FKRP):c.1016G>C (p.Arg339Pro)
NM_024301.5(FKRP):c.101C>T (p.Ser34Phe) rs1453156955
NM_024301.5(FKRP):c.1020C>G (p.Tyr340Ter)
NM_024301.5(FKRP):c.1022G>A (p.Trp341Ter)
NM_024301.5(FKRP):c.1026C>A (p.Leu342=) rs1382197287
NM_024301.5(FKRP):c.1027G>C (p.Glu343Gln) rs587780334
NM_024301.5(FKRP):c.1027G>T (p.Glu343Ter) rs587780334
NM_024301.5(FKRP):c.1029G>A (p.Glu343=)
NM_024301.5(FKRP):c.1032C>A (p.Gly344=) rs767312918
NM_024301.5(FKRP):c.1038A>T (p.Ser346=)
NM_024301.5(FKRP):c.1039C>T (p.Leu347=) rs2122630246
NM_024301.5(FKRP):c.103C>T (p.Arg35Trp) rs1157545139
NM_024301.5(FKRP):c.1041G>A (p.Leu347=) rs1599938600
NM_024301.5(FKRP):c.1047G>A (p.Gly349=) rs1288093563
NM_024301.5(FKRP):c.104G>A (p.Arg35Gln) rs754088436
NM_024301.5(FKRP):c.1051G>A (p.Ala351Thr) rs982005875
NM_024301.5(FKRP):c.1055G>C (p.Arg352Pro)
NM_024301.5(FKRP):c.1056C>T (p.Arg352=) rs886038682
NM_024301.5(FKRP):c.1059C>T (p.His353=) rs894313503
NM_024301.5(FKRP):c.105G>C (p.Arg35=)
NM_024301.5(FKRP):c.1060G>C (p.Gly354Arg) rs565499116
NM_024301.5(FKRP):c.1062G>A (p.Gly354=)
NM_024301.5(FKRP):c.1065C>T (p.Asp355=) rs2122630697
NM_024301.5(FKRP):c.1067T>C (p.Ile356Thr)
NM_024301.5(FKRP):c.1075T>C (p.Trp359Arg) rs2054929484
NM_024301.5(FKRP):c.1075del (p.Trp359fs) rs2122630850
NM_024301.5(FKRP):c.1077_1078dup (p.Asp360fs) rs1568419860
NM_024301.5(FKRP):c.1083C>A (p.Tyr361Ter) rs1060502109
NM_024301.5(FKRP):c.1083C>G (p.Tyr361Ter) rs1060502109
NM_024301.5(FKRP):c.1083C>T (p.Tyr361=)
NM_024301.5(FKRP):c.1086C>A (p.Asp362Glu) rs749787381
NM_024301.5(FKRP):c.1086C>T (p.Asp362=) rs749787381
NM_024301.5(FKRP):c.1088T>C (p.Val363Ala) rs2054930160
NM_024301.5(FKRP):c.1092C>T (p.Asp364=)
NM_024301.5(FKRP):c.1098C>T (p.Gly366=)
NM_024301.5(FKRP):c.10A>G (p.Thr4Ala)
NM_024301.5(FKRP):c.1100T>A (p.Ile367Asn)
NM_024301.5(FKRP):c.1100T>C (p.Ile367Thr) rs1555739020
NM_024301.5(FKRP):c.1101C>T (p.Ile367=) rs1568419920
NM_024301.5(FKRP):c.1104C>A (p.Tyr368Ter)
NM_024301.5(FKRP):c.1107G>A (p.Leu369=)
NM_024301.5(FKRP):c.110G>A (p.Arg37Gln) rs779317138
NM_024301.5(FKRP):c.1113C>A (p.Asp371Glu) rs2054930576
NM_024301.5(FKRP):c.1115T>G (p.Val372Gly) rs771793862
NM_024301.5(FKRP):c.1117_1124del (p.Gly373fs)
NM_024301.5(FKRP):c.1118G>A (p.Gly373Asp) rs1413156584
NM_024301.5(FKRP):c.1119C>T (p.Gly373=)
NM_024301.5(FKRP):c.1123T>A (p.Cys375Ser) rs763940706
NM_024301.5(FKRP):c.1125C>A (p.Cys375Ter)
NM_024301.5(FKRP):c.1131G>A (p.Gln377=) rs2122631741
NM_024301.5(FKRP):c.1132C>T (p.Leu378=) rs1458891749
NM_024301.5(FKRP):c.1136G>C (p.Arg379Pro) rs140217866
NM_024301.5(FKRP):c.113G>A (p.Gly38Glu) rs1599933942
NM_024301.5(FKRP):c.1140G>C (p.Gly380=) rs552260353
NM_024301.5(FKRP):c.1140G>T (p.Gly380=) rs552260353
NM_024301.5(FKRP):c.1141G>C (p.Ala381Pro) rs1031408738
NM_024301.5(FKRP):c.1141G>T (p.Ala381Ser) rs1031408738
NM_024301.5(FKRP):c.1141del (p.Ala381fs) rs754403441
NM_024301.5(FKRP):c.1141dup (p.Ala381fs) rs754403441
NM_024301.5(FKRP):c.1143A>C (p.Ala381=) rs2122632165
NM_024301.5(FKRP):c.1146G>A (p.Glu382=)
NM_024301.5(FKRP):c.1149C>T (p.Ala383=) rs1489899957
NM_024301.5(FKRP):c.114G>A (p.Gly38=) rs878855079
NM_024301.5(FKRP):c.114G>T (p.Gly38=) rs878855079
NM_024301.5(FKRP):c.1151G>C (p.Gly384Ala) rs2122632279
NM_024301.5(FKRP):c.1154C>A (p.Ser385Ter) rs104894680
NM_024301.5(FKRP):c.1155G>A (p.Ser385=) rs369432328
NM_024301.5(FKRP):c.1155G>C (p.Ser385=)
NM_024301.5(FKRP):c.1155G>T (p.Ser385=)
NM_024301.5(FKRP):c.1158G>T (p.Val386=)
NM_024301.5(FKRP):c.115C>T (p.Pro39Ser) rs772667330
NM_024301.5(FKRP):c.1161G>A (p.Val387=)
NM_024301.5(FKRP):c.1164T>C (p.Asp388=) rs2122632580
NM_024301.5(FKRP):c.1168C>G (p.Arg390Gly) rs2122632676
NM_024301.5(FKRP):c.1168_1177dup (p.Val393fs)
NM_024301.5(FKRP):c.1170C>T (p.Arg390=)
NM_024301.5(FKRP):c.1170_1171del (p.Gly391fs) rs748087383
NM_024301.5(FKRP):c.1173C>T (p.Gly391=) rs1277189416
NM_024301.5(FKRP):c.1177G>C (p.Val393Leu) rs140679502
NM_024301.5(FKRP):c.1179A>C (p.Val393=)
NM_024301.5(FKRP):c.117C>G (p.Pro39=)
NM_024301.5(FKRP):c.117C>T (p.Pro39=)
NM_024301.5(FKRP):c.1181G>T (p.Trp394Leu)
NM_024301.5(FKRP):c.1183G>A (p.Glu395Lys) rs762944990
NM_024301.5(FKRP):c.1183G>C (p.Glu395Gln) rs762944990
NM_024301.5(FKRP):c.1187dup (p.Ala397fs) rs772020161
NM_024301.5(FKRP):c.118C>A (p.Arg40Ser)
NM_024301.5(FKRP):c.1191G>C (p.Ala397=) rs752767486
NM_024301.5(FKRP):c.1195G>A (p.Glu399Lys) rs1230638385
NM_024301.5(FKRP):c.1200C>T (p.Gly400=)
NM_024301.5(FKRP):c.1201G>A (p.Asp401Asn) rs1555739117
NM_024301.5(FKRP):c.1203C>T (p.Asp401=) rs2122633373
NM_024301.5(FKRP):c.1208dup (p.Arg404fs)
NM_024301.5(FKRP):c.1210C>T (p.Arg404Cys)
NM_024301.5(FKRP):c.1211G>A (p.Arg404His) rs2054934225
NM_024301.5(FKRP):c.1213G>T (p.Val405Leu) rs28937904
NM_024301.5(FKRP):c.1215G>T (p.Val405=)
NM_024301.5(FKRP):c.1216C>T (p.Gln406Ter)
NM_024301.5(FKRP):c.1217A>C (p.Gln406Pro)
NM_024301.5(FKRP):c.1218G>A (p.Gln406=) rs2122633702
NM_024301.5(FKRP):c.121C>A (p.Arg41Ser) rs2122609166
NM_024301.5(FKRP):c.1221C>G (p.Tyr407Ter)
NM_024301.5(FKRP):c.1221C>T (p.Tyr407=)
NM_024301.5(FKRP):c.122G>A (p.Arg41His) rs201497063
NM_024301.5(FKRP):c.122G>T (p.Arg41Leu) rs201497063
NM_024301.5(FKRP):c.1233C>T (p.Asn411=) rs1451916862
NM_024301.5(FKRP):c.1234dup (p.His412fs) rs2122633849
NM_024301.5(FKRP):c.1236C>G (p.His412Gln) rs201076863
NM_024301.5(FKRP):c.1237T>C (p.Leu413=)
NM_024301.5(FKRP):c.1238del (p.Leu413fs) rs2054934925
NM_024301.5(FKRP):c.1240C>A (p.His414Asn) rs2054934982
NM_024301.5(FKRP):c.1242C>T (p.His414=) rs369599106
NM_024301.5(FKRP):c.1249C>T (p.Leu417=) rs2122634047
NM_024301.5(FKRP):c.1251G>A (p.Leu417=)
NM_024301.5(FKRP):c.1256_1257del (p.Pro419fs) rs886043959
NM_024301.5(FKRP):c.1267del (p.Arg423fs) rs886044083
NM_024301.5(FKRP):c.1268G>C (p.Arg423Pro) rs886042367
NM_024301.5(FKRP):c.1269C>A (p.Arg423=)
NM_024301.5(FKRP):c.126C>G (p.Ala42=) rs2122609298
NM_024301.5(FKRP):c.1272T>C (p.Asn424=) rs2054935900
NM_024301.5(FKRP):c.1275C>T (p.Gly425=)
NM_024301.5(FKRP):c.1282A>G (p.Thr428Ala) rs886042793
NM_024301.5(FKRP):c.1287G>A (p.Lys429=) rs2122634715
NM_024301.5(FKRP):c.128C>G (p.Ser43Cys) rs1555738085
NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter) rs1599939853
NM_024301.5(FKRP):c.1299G>C (p.Leu433=) rs2054936601
NM_024301.5(FKRP):c.1301A>G (p.Asp434Gly)
NM_024301.5(FKRP):c.1305C>T (p.His435=) rs2122634906
NM_024301.5(FKRP):c.1307G>A (p.Arg436Gln) rs764311774
NM_024301.5(FKRP):c.1309C>A (p.Gln437Lys) rs2054936900
NM_024301.5(FKRP):c.1310A>G (p.Gln437Arg) rs2122635070
NM_024301.5(FKRP):c.1314T>C (p.Asp438=)
NM_024301.5(FKRP):c.1326C>T (p.Pro442=)
NM_024301.5(FKRP):c.1327G>A (p.Glu443Lys)
NM_024301.5(FKRP):c.1328A>G (p.Glu443Gly)
NM_024301.5(FKRP):c.1332C>T (p.His444=) rs2122635487
NM_024301.5(FKRP):c.1335_1336del (p.Leu446fs) rs1384878260
NM_024301.5(FKRP):c.1336C>T (p.Leu446=) rs1276709308
NM_024301.5(FKRP):c.1336del (p.Leu446fs)
NM_024301.5(FKRP):c.1338G>A (p.Leu446=) rs936735225
NM_024301.5(FKRP):c.1339C>T (p.Gln447Ter)
NM_024301.5(FKRP):c.1344G>A (p.Pro448=) rs754446767
NM_024301.5(FKRP):c.1344G>C (p.Pro448=) rs754446767
NM_024301.5(FKRP):c.1345C>T (p.Leu449=) rs2122635761
NM_024301.5(FKRP):c.1346T>C (p.Leu449Pro)
NM_024301.5(FKRP):c.1349T>C (p.Val450Ala)
NM_024301.5(FKRP):c.1353C>T (p.Pro451=)
NM_024301.5(FKRP):c.1354del (p.Leu452fs) rs2122635879
NM_024301.5(FKRP):c.1358C>T (p.Pro453Leu) rs1206095834
NM_024301.5(FKRP):c.135C>A (p.Ala45=) rs2287717
NM_024301.5(FKRP):c.135C>G (p.Ala45=) rs2287717
NM_024301.5(FKRP):c.1360T>C (p.Phe454Leu) rs2122636001
NM_024301.5(FKRP):c.1361T>C (p.Phe454Ser)
NM_024301.5(FKRP):c.1363G>A (p.Ala455Thr) rs747785577
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp) rs28937903
NM_024301.5(FKRP):c.1365C>G (p.Ala455=)
NM_024301.5(FKRP):c.1365C>T (p.Ala455=) rs2122636152
NM_024301.5(FKRP):c.1366G>A (p.Gly456Ser) rs2054938604
NM_024301.5(FKRP):c.1368C>T (p.Gly456=) rs1599940206
NM_024301.5(FKRP):c.1371C>G (p.Phe457Leu) rs1270459605
NM_024301.5(FKRP):c.1377G>T (p.Ala459=) rs770845177
NM_024301.5(FKRP):c.1378C>T (p.Gln460Ter)
NM_024301.5(FKRP):c.1383G>A (p.Ala461=)
NM_024301.5(FKRP):c.1383G>C (p.Ala461=) rs759585825
NM_024301.5(FKRP):c.1385C>T (p.Pro462Leu)
NM_024301.5(FKRP):c.1386T>C (p.Pro462=) rs776825755
NM_024301.5(FKRP):c.1388A>G (p.Asn463Ser) rs2122636612
NM_024301.5(FKRP):c.1388A>T (p.Asn463Ile) rs2122636612
NM_024301.5(FKRP):c.1389C>A (p.Asn463Lys)
NM_024301.5(FKRP):c.1389C>T (p.Asn463=)
NM_024301.5(FKRP):c.138C>T (p.Gly46=)
NM_024301.5(FKRP):c.13C>T (p.Arg5Cys) rs1060502108
NM_024301.5(FKRP):c.1400G>A (p.Arg467His) rs766839420
NM_024301.5(FKRP):c.1404C>T (p.Phe468=)
NM_024301.5(FKRP):c.1411C>G (p.Leu471Val) rs2054940038
NM_024301.5(FKRP):c.1413C>A (p.Leu471=)
NM_024301.5(FKRP):c.1415del (p.Lys472fs) rs1555739280
NM_024301.5(FKRP):c.1416G>A (p.Lys472=)
NM_024301.5(FKRP):c.1416G>T (p.Lys472Asn)
NM_024301.5(FKRP):c.1419C>T (p.Phe473=) rs868310782
NM_024301.5(FKRP):c.141C>A (p.Pro47=)
NM_024301.5(FKRP):c.1422G>A (p.Gly474=) rs1363063718
NM_024301.5(FKRP):c.1422G>T (p.Gly474=)
NM_024301.5(FKRP):c.1424C>T (p.Pro475Leu) rs1468526055
NM_024301.5(FKRP):c.1428G>T (p.Gly476=)
NM_024301.5(FKRP):c.1429G>A (p.Val477Ile) rs1424035060
NM_024301.5(FKRP):c.1429del (p.Val477fs)
NM_024301.5(FKRP):c.142C>A (p.Arg48Ser) rs2054892239
NM_024301.5(FKRP):c.142del (p.Arg48fs) rs1555738103
NM_024301.5(FKRP):c.142dup (p.Arg48fs)
NM_024301.5(FKRP):c.1432A>G (p.Ile478Val)
NM_024301.5(FKRP):c.1440C>G (p.Asn480Lys)
NM_024301.5(FKRP):c.1442C>A (p.Pro481His) rs727502844
NM_024301.5(FKRP):c.1443C>G (p.Pro481=)
NM_024301.5(FKRP):c.1443C>T (p.Pro481=) rs2054941502
NM_024301.5(FKRP):c.1444C>T (p.Gln482Ter)
NM_024301.5(FKRP):c.1444del (p.Gln482fs)
NM_024301.5(FKRP):c.1444dup (p.Gln482fs)
NM_024301.5(FKRP):c.1455C>T (p.Asn485=)
NM_024301.5(FKRP):c.1457C>T (p.Pro486Leu) rs2122637980
NM_024301.5(FKRP):c.1458G>C (p.Pro486=) rs762008480
NM_024301.5(FKRP):c.1461A>G (p.Ala487=) rs2122638048
NM_024301.5(FKRP):c.1466T>G (p.Leu489Arg) rs1555739321
NM_024301.5(FKRP):c.1468A>G (p.Ser490Gly)
NM_024301.5(FKRP):c.1475C>T (p.Thr492Met) rs1435800457
NM_024301.5(FKRP):c.1478del (p.Gly493fs)
NM_024301.5(FKRP):c.1482C>T (p.Ser494=) rs373244438
NM_024301.5(FKRP):c.150C>T (p.Thr50=)
NM_024301.5(FKRP):c.151G>C (p.Val51Leu)
NM_024301.5(FKRP):c.151G>T (p.Val51Phe) rs769377092
NM_024301.5(FKRP):c.157G>A (p.Val53Met)
NM_024301.5(FKRP):c.158_162dup (p.Glu55fs) rs1290836394
NM_024301.5(FKRP):c.15C>A (p.Arg5=) rs1221940943
NM_024301.5(FKRP):c.160C>G (p.Arg54Gly)
NM_024301.5(FKRP):c.160C>T (p.Arg54Trp) rs28937905
NM_024301.5(FKRP):c.161G>A (p.Arg54Gln) rs2122609879
NM_024301.5(FKRP):c.162G>A (p.Arg54=)
NM_024301.5(FKRP):c.162_165dup (p.Phe56fs) rs886042506
NM_024301.5(FKRP):c.163G>A (p.Glu55Lys) rs2122609947
NM_024301.5(FKRP):c.168C>T (p.Phe56=) rs1443120812
NM_024301.5(FKRP):c.169G>A (p.Glu57Lys) rs773024545
NM_024301.5(FKRP):c.16T>C (p.Cys6Arg) rs2122606907
NM_024301.5(FKRP):c.177T>C (p.Phe59=) rs2122610182
NM_024301.5(FKRP):c.178_199del (p.Phe59_Asp60insTer)
NM_024301.5(FKRP):c.180C>G (p.Asp60Glu)
NM_024301.5(FKRP):c.183C>G (p.Asn61Lys) rs759539583
NM_024301.5(FKRP):c.185C>T (p.Ala62Val) rs1448177835
NM_024301.5(FKRP):c.186G>C (p.Ala62=) rs764225864
NM_024301.5(FKRP):c.188T>C (p.Val63Ala) rs2122610495
NM_024301.5(FKRP):c.192C>G (p.Pro64=) rs111754012
NM_024301.5(FKRP):c.198G>A (p.Leu66=) rs2054893764
NM_024301.5(FKRP):c.1A>C (p.Met1Leu) rs587777223
NM_024301.5(FKRP):c.1A>G (p.Met1Val) rs587777223
NM_024301.5(FKRP):c.201A>G (p.Val67=) rs2122610711
NM_024301.5(FKRP):c.205T>G (p.Ser69Ala)
NM_024301.5(FKRP):c.206C>T (p.Ser69Phe) rs1555738197
NM_024301.5(FKRP):c.206_208del (p.Ser69del) rs2054893955
NM_024301.5(FKRP):c.211C>A (p.Leu71Met)
NM_024301.5(FKRP):c.211C>T (p.Leu71=) rs2122610964
NM_024301.5(FKRP):c.214C>T (p.Gln72Ter) rs1555738201
NM_024301.5(FKRP):c.216G>A (p.Gln72=)
NM_024301.5(FKRP):c.217C>T (p.Gln73Ter)
NM_024301.5(FKRP):c.218A>G (p.Gln73Arg) rs2122611023
NM_024301.5(FKRP):c.224del (p.Pro75fs) rs779619633
NM_024301.5(FKRP):c.225A>T (p.Pro75=)
NM_024301.5(FKRP):c.228C>A (p.Ala76=)
NM_024301.5(FKRP):c.228C>T (p.Ala76=) rs780639027
NM_024301.5(FKRP):c.230A>G (p.Gln77Arg) rs2122611366
NM_024301.5(FKRP):c.230_234del (p.Gln77fs)
NM_024301.5(FKRP):c.230_234dup (p.Val79fs) rs1555738204
NM_024301.5(FKRP):c.235G>C (p.Val79Leu) rs104894683
NM_024301.5(FKRP):c.236TGG[2] (p.Val81del) rs2054894857
NM_024301.5(FKRP):c.237G>A (p.Val79=)
NM_024301.5(FKRP):c.238G>A (p.Val80Met)
NM_024301.5(FKRP):c.240G>A (p.Val80=)
NM_024301.5(FKRP):c.245C>T (p.Ala82Val) rs966960260
NM_024301.5(FKRP):c.246A>T (p.Ala82=)
NM_024301.5(FKRP):c.251A>G (p.Asp84Gly) rs2122611834
NM_024301.5(FKRP):c.252C>T (p.Asp84=) rs1171443074
NM_024301.5(FKRP):c.255G>C (p.Thr85=) rs2054895437
NM_024301.5(FKRP):c.261del (p.Tyr88fs)
NM_024301.5(FKRP):c.264C>T (p.Tyr88=) rs1057520771
NM_024301.5(FKRP):c.265C>G (p.Pro89Ala)
NM_024301.5(FKRP):c.267G>A (p.Pro89=) rs774192252
NM_024301.5(FKRP):c.267G>T (p.Pro89=)
NM_024301.5(FKRP):c.26C>T (p.Ala9Val)
NM_024301.5(FKRP):c.270C>A (p.Pro90=) rs1276432637
NM_024301.5(FKRP):c.270C>T (p.Pro90=)
NM_024301.5(FKRP):c.278_283dup (p.Leu93_Pro94dup) rs1220815256
NM_024301.5(FKRP):c.27C>T (p.Ala9=)
NM_024301.5(FKRP):c.280C>T (p.Pro94Ser)
NM_024301.5(FKRP):c.281C>A (p.Pro94His) rs925430989
NM_024301.5(FKRP):c.282C>G (p.Pro94=)
NM_024301.5(FKRP):c.282C>T (p.Pro94=) rs1267805674
NM_024301.5(FKRP):c.291C>T (p.Pro97=) rs1215872713
NM_024301.5(FKRP):c.292A>T (p.Asn98Tyr) rs1268536934
NM_024301.5(FKRP):c.293A>G (p.Asn98Ser)
NM_024301.5(FKRP):c.294C>T (p.Asn98=)
NM_024301.5(FKRP):c.295del (p.Val99fs)
NM_024301.5(FKRP):c.299G>C (p.Arg100Pro) rs1174581828
NM_024301.5(FKRP):c.305C>A (p.Ala102Glu) rs1473327480
NM_024301.5(FKRP):c.30GGC[1] (p.Ala13del) rs2122607119
NM_024301.5(FKRP):c.313C>G (p.Gln105Glu) rs761821795
NM_024301.5(FKRP):c.316_317insACGCCCTGGACCGGC (p.Gln105_Pro106insHisAlaLeuAspArg)
NM_024301.5(FKRP):c.318C>A (p.Pro106=)
NM_024301.5(FKRP):c.319G>T (p.Ala107Ser) rs750679682
NM_024301.5(FKRP):c.324G>A (p.Leu108=) rs2054898950
NM_024301.5(FKRP):c.330G>T (p.Arg110=)
NM_024301.5(FKRP):c.333A>C (p.Pro111=) rs2122613470
NM_024301.5(FKRP):c.336C>G (p.Ala112=) rs1054339656
NM_024301.5(FKRP):c.344C>G (p.Ser115Trp) rs752018916
NM_024301.5(FKRP):c.345G>A (p.Ser115=) rs1356142931
NM_024301.5(FKRP):c.346C>T (p.Arg116Cys)
NM_024301.5(FKRP):c.347G>A (p.Arg116His)
NM_024301.5(FKRP):c.349C>T (p.Pro117Ser)
NM_024301.5(FKRP):c.350C>G (p.Pro117Arg)
NM_024301.5(FKRP):c.350C>T (p.Pro117Leu)
NM_024301.5(FKRP):c.351G>A (p.Pro117=) rs1060504470
NM_024301.5(FKRP):c.352G>T (p.Glu118Ter)
NM_024301.5(FKRP):c.357C>G (p.Thr119=)
NM_024301.5(FKRP):c.363G>A (p.Val121=)
NM_024301.5(FKRP):c.364G>A (p.Ala122Thr) rs1060502111
NM_024301.5(FKRP):c.371A>G (p.Glu124Gly) rs1457269190
NM_024301.5(FKRP):c.372G>C (p.Glu124Asp)
NM_024301.5(FKRP):c.374T>C (p.Phe125Ser) rs886042355
NM_024301.5(FKRP):c.37G>A (p.Ala13Thr) rs768376273
NM_024301.5(FKRP):c.385G>C (p.Val129Leu) rs747642602
NM_024301.5(FKRP):c.386T>A (p.Val129Glu) rs1599934959
NM_024301.5(FKRP):c.387A>G (p.Val129=)
NM_024301.5(FKRP):c.390T>C (p.Pro130=) rs2122614420
NM_024301.5(FKRP):c.390T>G (p.Pro130=)
NM_024301.5(FKRP):c.394G>C (p.Gly132Arg) rs900304726
NM_024301.5(FKRP):c.395G>A (p.Gly132Glu) rs755588907
NM_024301.5(FKRP):c.396G>A (p.Gly132=)
NM_024301.5(FKRP):c.397G>T (p.Ala133Ser) rs1555738380
NM_024301.5(FKRP):c.400C>T (p.Arg134Trp) rs104894690
NM_024301.5(FKRP):c.402_403del (p.Arg134_Ala135insTer) rs886041004
NM_024301.5(FKRP):c.403G>A (p.Ala135Thr)
NM_024301.5(FKRP):c.403G>T (p.Ala135Ser) rs748928675
NM_024301.5(FKRP):c.404C>T (p.Ala135Val)
NM_024301.5(FKRP):c.411A>C (p.Ala137=) rs2122614859
NM_024301.5(FKRP):c.413C>T (p.Pro138Leu)
NM_024301.5(FKRP):c.414T>C (p.Pro138=) rs2122614914
NM_024301.5(FKRP):c.420G>A (p.Leu140=) rs2122615035
NM_024301.5(FKRP):c.423G>C (p.Leu141=) rs2122615075
NM_024301.5(FKRP):c.427C>T (p.Arg143Cys) rs148206382
NM_024301.5(FKRP):c.428G>A (p.Arg143His)
NM_024301.5(FKRP):c.428G>C (p.Arg143Pro) rs1201804052
NM_024301.5(FKRP):c.428G>T (p.Arg143Leu)
NM_024301.5(FKRP):c.430A>G (p.Met144Val) rs1568418007
NM_024301.5(FKRP):c.431T>G (p.Met144Arg)
NM_024301.5(FKRP):c.433G>A (p.Val145Met) rs2054903007
NM_024301.5(FKRP):c.433_455del (p.Val145fs)
NM_024301.5(FKRP):c.438G>A (p.Glu146=) rs2122615356
NM_024301.5(FKRP):c.441G>A (p.Ala147=) rs1185093260
NM_024301.5(FKRP):c.441G>T (p.Ala147=) rs1185093260
NM_024301.5(FKRP):c.444C>T (p.Leu148=) rs1391808700
NM_024301.5(FKRP):c.447_451del (p.Ala150fs)
NM_024301.5(FKRP):c.448G>A (p.Ala150Thr)
NM_024301.5(FKRP):c.44C>T (p.Thr15Ile) rs2054889166
NM_024301.5(FKRP):c.452G>C (p.Gly151Ala) rs1171700980
NM_024301.5(FKRP):c.456C>T (p.Ser152=) rs199714523
NM_024301.5(FKRP):c.45C>T (p.Thr15=)
NM_024301.5(FKRP):c.469G>C (p.Ala157Pro) rs727502842
NM_024301.5(FKRP):c.470C>G (p.Ala157Gly) rs2122616000
NM_024301.5(FKRP):c.471C>A (p.Ala157=) rs1366423719
NM_024301.5(FKRP):c.471C>T (p.Ala157=) rs1366423719
NM_024301.5(FKRP):c.472G>A (p.Ala158Thr) rs2054905075
NM_024301.5(FKRP):c.474C>A (p.Ala158=)
NM_024301.5(FKRP):c.477G>A (p.Pro159=) rs1599935385
NM_024301.5(FKRP):c.477G>C (p.Pro159=)
NM_024301.5(FKRP):c.478G>T (p.Val160Phe) rs1314476567
NM_024301.5(FKRP):c.487G>A (p.Ala163Thr)
NM_024301.5(FKRP):c.488C>G (p.Ala163Gly) rs2122616447
NM_024301.5(FKRP):c.491A>G (p.Asn164Ser) rs1008630400
NM_024301.5(FKRP):c.497C>G (p.Ala166Gly)
NM_024301.5(FKRP):c.498C>T (p.Ala166=) rs763245394
NM_024301.5(FKRP):c.4C>A (p.Arg2=)
NM_024301.5(FKRP):c.501G>A (p.Arg167=) rs2054906317
NM_024301.5(FKRP):c.501_502delinsCC (p.Arg167_Cys168delinsSerArg) rs2122616718
NM_024301.5(FKRP):c.502T>C (p.Cys168Arg) rs1555738483
NM_024301.5(FKRP):c.503G>A (p.Cys168Tyr) rs554813030
NM_024301.5(FKRP):c.511C>G (p.Leu171Val) rs766747690
NM_024301.5(FKRP):c.511C>T (p.Leu171=) rs766747690
NM_024301.5(FKRP):c.511_523del (p.Leu171fs) rs1314297056
NM_024301.5(FKRP):c.515dup (p.Asn172fs) rs2122617005
NM_024301.5(FKRP):c.516C>A (p.Asn172Lys)
NM_024301.5(FKRP):c.516C>T (p.Asn172=) rs970724879
NM_024301.5(FKRP):c.522C>T (p.Ser174=) rs1599935593
NM_024301.5(FKRP):c.525G>A (p.Leu175=) rs2054907207
NM_024301.5(FKRP):c.525G>T (p.Leu175=) rs2054907207
NM_024301.5(FKRP):c.526C>A (p.Arg176=) rs1555738502
NM_024301.5(FKRP):c.526C>T (p.Arg176Ter) rs1555738502
NM_024301.5(FKRP):c.527G>A (p.Arg176Gln) rs755316345
NM_024301.5(FKRP):c.529G>A (p.Glu177Lys) rs727502843
NM_024301.5(FKRP):c.536C>A (p.Thr179Asn) rs2122617585
NM_024301.5(FKRP):c.537C>T (p.Thr179=) rs756705086
NM_024301.5(FKRP):c.538G>T (p.Ala180Ser)
NM_024301.5(FKRP):c.539C>A (p.Ala180Asp) rs1555738521
NM_024301.5(FKRP):c.540_541delinsTA (p.Arg181Ser) rs1568418289
NM_024301.5(FKRP):c.540_570dup (p.Cys191fs) rs1311148380
NM_024301.5(FKRP):c.541C>T (p.Arg181Cys) rs777245868
NM_024301.5(FKRP):c.542_567del (p.Arg181fs)
NM_024301.5(FKRP):c.544del (p.Tyr182fs)
NM_024301.5(FKRP):c.548G>A (p.Gly183Asp) rs2054908222
NM_024301.5(FKRP):c.549C>T (p.Gly183=) rs2122617954
NM_024301.5(FKRP):c.555C>A (p.Ala185=) rs1057523657
NM_024301.5(FKRP):c.555C>G (p.Ala185=) rs1057523657
NM_024301.5(FKRP):c.555C>T (p.Ala185=) rs1057523657
NM_024301.5(FKRP):c.558C>A (p.Pro186=) rs1266858563
NM_024301.5(FKRP):c.558C>G (p.Pro186=) rs1266858563
NM_024301.5(FKRP):c.559_560delinsAA (p.Ala187Asn) rs2122618398
NM_024301.5(FKRP):c.561C>G (p.Ala187=) rs771770302
NM_024301.5(FKRP):c.561C>T (p.Ala187=) rs771770302
NM_024301.5(FKRP):c.567C>G (p.Pro189=)
NM_024301.5(FKRP):c.568C>T (p.Arg190Cys) rs1437770795
NM_024301.5(FKRP):c.578C>T (p.Ala193Val) rs1815363870
NM_024301.5(FKRP):c.57G>A (p.Leu19=) rs2122607618
NM_024301.5(FKRP):c.582G>C (p.Leu194=) rs771223960
NM_024301.5(FKRP):c.582G>T (p.Leu194=)
NM_024301.5(FKRP):c.586G>A (p.Gly196Arg) rs759875552
NM_024301.5(FKRP):c.586G>C (p.Gly196Arg) rs759875552
NM_024301.5(FKRP):c.587G>T (p.Gly196Val)
NM_024301.5(FKRP):c.588A>G (p.Gly196=) rs2122619043
NM_024301.5(FKRP):c.590A>T (p.Asp197Val)
NM_024301.5(FKRP):c.591T>C (p.Asp197=)
NM_024301.5(FKRP):c.592G>A (p.Ala198Thr) rs1222197114
NM_024301.5(FKRP):c.594T>G (p.Ala198=) rs753158217
NM_024301.5(FKRP):c.597G>A (p.Val199=)
NM_024301.5(FKRP):c.597G>T (p.Val199=) rs1360004383
NM_024301.5(FKRP):c.5G>A (p.Arg2Gln)
NM_024301.5(FKRP):c.5G>T (p.Arg2Leu) rs1308459613
NM_024301.5(FKRP):c.600G>A (p.Val200=) rs2054910281
NM_024301.5(FKRP):c.600G>T (p.Val200=) rs2054910281
NM_024301.5(FKRP):c.601C>T (p.Leu201Phe) rs1568418509
NM_024301.5(FKRP):c.607C>T (p.Arg203Cys)
NM_024301.5(FKRP):c.608G>A (p.Arg203His) rs1568418540
NM_024301.5(FKRP):c.609C>T (p.Arg203=)
NM_024301.5(FKRP):c.60C>A (p.Val20=)
NM_024301.5(FKRP):c.60C>G (p.Val20=) rs1228553738
NM_024301.5(FKRP):c.60C>T (p.Val20=) rs1228553738
NM_024301.5(FKRP):c.613C>T (p.Arg205Cys) rs753297636
NM_024301.5(FKRP):c.615C>A (p.Arg205=)
NM_024301.5(FKRP):c.615C>G (p.Arg205=)
NM_024301.5(FKRP):c.616G>A (p.Asp206Asn) rs1037585549
NM_024301.5(FKRP):c.618C>T (p.Asp206=)
NM_024301.5(FKRP):c.621C>G (p.Leu207=)
NM_024301.5(FKRP):c.624C>T (p.Phe208=)
NM_024301.5(FKRP):c.628C>T (p.Leu210Phe) rs778472624
NM_024301.5(FKRP):c.632C>G (p.Ser211Trp)
NM_024301.5(FKRP):c.632del (p.Ser211fs)
NM_024301.5(FKRP):c.633G>C (p.Ser211=)
NM_024301.5(FKRP):c.638C>T (p.Pro213Leu)
NM_024301.5(FKRP):c.639C>G (p.Pro213=) rs746859953
NM_024301.5(FKRP):c.639C>T (p.Pro213=)
NM_024301.5(FKRP):c.640C>G (p.Leu214Val) rs768674420
NM_024301.5(FKRP):c.641T>G (p.Leu214Arg) rs1380899496
NM_024301.5(FKRP):c.642G>C (p.Leu214=) rs2122620240
NM_024301.5(FKRP):c.646C>T (p.Arg216Trp) rs2054912295
NM_024301.5(FKRP):c.647G>A (p.Arg216Gln) rs794727652
NM_024301.5(FKRP):c.648G>A (p.Arg216=) rs781297006
NM_024301.5(FKRP):c.649C>A (p.Pro217Thr) rs2122620422
NM_024301.5(FKRP):c.650dup (p.Val218fs) rs2122620454
NM_024301.5(FKRP):c.651G>A (p.Pro217=) rs1057522308
NM_024301.5(FKRP):c.651G>T (p.Pro217=) rs1057522308
NM_024301.5(FKRP):c.651_652dup (p.Val218fs)
NM_024301.5(FKRP):c.655G>A (p.Gly219Ser) rs878855080
NM_024301.5(FKRP):c.656del (p.Gly219fs) rs1555738651
NM_024301.5(FKRP):c.661dup (p.Ser221fs) rs2122620867
NM_024301.5(FKRP):c.663C>A (p.Ser221Arg) rs28937902
NM_024301.5(FKRP):c.666C>G (p.Leu222=)
NM_024301.5(FKRP):c.666C>T (p.Leu222=) rs2122620960
NM_024301.5(FKRP):c.667T>G (p.Phe223Val) rs2054913534
NM_024301.5(FKRP):c.673C>A (p.Gln225Lys) rs1217634545
NM_024301.5(FKRP):c.674A>C (p.Gln225Pro)
NM_024301.5(FKRP):c.675del (p.Thr226fs) rs886043706
NM_024301.5(FKRP):c.679G>C (p.Ala227Pro) rs775681117
NM_024301.5(FKRP):c.686del (p.Arg229fs) rs1555738686
NM_024301.5(FKRP):c.687C>T (p.Arg229=)
NM_024301.5(FKRP):c.688G>A (p.Gly230Ser) rs761054322
NM_024301.5(FKRP):c.688G>T (p.Gly230Cys)
NM_024301.5(FKRP):c.690C>T (p.Gly230=)
NM_024301.5(FKRP):c.692G>A (p.Trp231Ter)
NM_024301.5(FKRP):c.693G>C (p.Trp231Cys) rs2122621481
NM_024301.5(FKRP):c.696G>A (p.Ala232=)
NM_024301.5(FKRP):c.696G>T (p.Ala232=) rs398124394
NM_024301.5(FKRP):c.699G>T (p.Val233=)
NM_024301.5(FKRP):c.702G>A (p.Gln234=)
NM_024301.5(FKRP):c.705G>C (p.Leu235=)
NM_024301.5(FKRP):c.706C>T (p.Leu236=)
NM_024301.5(FKRP):c.707T>C (p.Leu236Pro)
NM_024301.5(FKRP):c.708G>A (p.Leu236=) rs886038683
NM_024301.5(FKRP):c.712_713del (p.Leu238fs)
NM_024301.5(FKRP):c.714G>A (p.Leu238=)
NM_024301.5(FKRP):c.717C>G (p.Thr239=)
NM_024301.5(FKRP):c.718T>C (p.Phe240Leu) rs2122621908
NM_024301.5(FKRP):c.720C>T (p.Phe240=) rs2122621942
NM_024301.5(FKRP):c.722_791del (p.Ala241fs)
NM_024301.5(FKRP):c.723C>G (p.Ala241=)
NM_024301.5(FKRP):c.729G>A (p.Ala243=) rs794727651
NM_024301.5(FKRP):c.731G>T (p.Arg244Leu) rs764641619
NM_024301.5(FKRP):c.736C>A (p.Pro246Thr) rs1443171664
NM_024301.5(FKRP):c.736C>T (p.Pro246Ser)
NM_024301.5(FKRP):c.739C>A (p.Pro247Thr) rs1000823800
NM_024301.5(FKRP):c.740C>G (p.Pro247Arg) rs528000488
NM_024301.5(FKRP):c.741G>T (p.Pro247=)
NM_024301.5(FKRP):c.745G>A (p.Ala249Thr) rs757955092
NM_024301.5(FKRP):c.748A>G (p.Thr250Ala)
NM_024301.5(FKRP):c.750G>A (p.Thr250=) rs1390038437
NM_024301.5(FKRP):c.750G>T (p.Thr250=) rs1390038437
NM_024301.5(FKRP):c.755A>T (p.His252Leu) rs2054916702
NM_024301.5(FKRP):c.756C>T (p.His252=)
NM_024301.5(FKRP):c.759G>T (p.Ala253=) rs2122622960
NM_024301.5(FKRP):c.75G>A (p.Ser25=) rs1555738032
NM_024301.5(FKRP):c.75G>C (p.Ser25=)
NM_024301.5(FKRP):c.75G>T (p.Ser25=) rs1555738032
NM_024301.5(FKRP):c.763T>A (p.Trp255Arg) rs2054916842
NM_024301.5(FKRP):c.771T>A (p.Ala257=)
NM_024301.5(FKRP):c.771T>C (p.Ala257=)
NM_024301.5(FKRP):c.771T>G (p.Ala257=)
NM_024301.5(FKRP):c.774G>A (p.Glu258=)
NM_024301.5(FKRP):c.775C>T (p.Arg259Cys) rs1333568893
NM_024301.5(FKRP):c.777C>G (p.Arg259=)
NM_024301.5(FKRP):c.777C>T (p.Arg259=) rs766086486
NM_024301.5(FKRP):c.778G>T (p.Glu260Ter) rs1555738753
NM_024301.5(FKRP):c.779A>C (p.Glu260Ala) rs1394263062
NM_024301.5(FKRP):c.779_785del (p.Glu260fs) rs2122623346
NM_024301.5(FKRP):c.780G>C (p.Glu260Asp) rs1414659732
NM_024301.5(FKRP):c.781G>A (p.Gly261Arg)
NM_024301.5(FKRP):c.781G>C (p.Gly261Arg) rs561169991
NM_024301.5(FKRP):c.786C>T (p.Arg262=)
NM_024301.5(FKRP):c.788C>T (p.Ala263Val) rs2122623716
NM_024301.5(FKRP):c.789T>C (p.Ala263=)
NM_024301.5(FKRP):c.790C>G (p.Arg264Gly)
NM_024301.5(FKRP):c.794G>A (p.Arg265Gln) rs1320991574
NM_024301.5(FKRP):c.795G>A (p.Arg265=)
NM_024301.5(FKRP):c.795_811del (p.Ala267fs)
NM_024301.5(FKRP):c.796del (p.Ala266fs) rs1555738764
NM_024301.5(FKRP):c.797dup (p.Ala267fs)
NM_024301.5(FKRP):c.79C>T (p.Leu27=) rs2122608181
NM_024301.5(FKRP):c.805C>T (p.Leu269Phe) rs2054918807
NM_024301.5(FKRP):c.807C>G (p.Leu269=)
NM_024301.5(FKRP):c.807C>T (p.Leu269=)
NM_024301.5(FKRP):c.810C>A (p.Arg270=) rs754829416
NM_024301.5(FKRP):c.810C>T (p.Arg270=)
NM_024301.5(FKRP):c.811G>A (p.Ala271Thr) rs1331506516
NM_024301.5(FKRP):c.813G>C (p.Ala271=)
NM_024301.5(FKRP):c.813G>T (p.Ala271=) rs781205564
NM_024301.5(FKRP):c.813_814dup (p.Leu272fs)
NM_024301.5(FKRP):c.819C>T (p.Gly273=) rs2122624397
NM_024301.5(FKRP):c.81_82delinsTT (p.Gln28Ter)
NM_024301.5(FKRP):c.820A>T (p.Ile274Phe) rs1060502107
NM_024301.5(FKRP):c.826C>T (p.Leu276=) rs28937900
NM_024301.5(FKRP):c.828del (p.Leu276_Val277insTer)
NM_024301.5(FKRP):c.832A>G (p.Ser278Gly)
NM_024301.5(FKRP):c.835T>C (p.Trp279Arg) rs2054919937
NM_024301.5(FKRP):c.835dup (p.Trp279fs)
NM_024301.5(FKRP):c.836G>C (p.Trp279Ser) rs1555738797
NM_024301.5(FKRP):c.838G>A (p.Glu280Lys) rs2054920081
NM_024301.5(FKRP):c.83A>G (p.Gln28Arg) rs756205019
NM_024301.5(FKRP):c.843C>T (p.Gly281=)
NM_024301.5(FKRP):c.844G>A (p.Gly282Arg) rs2054920195
NM_024301.5(FKRP):c.846G>C (p.Gly282=)
NM_024301.5(FKRP):c.847C>A (p.Arg283=) rs1325525979
NM_024301.5(FKRP):c.849G>A (p.Arg283=) rs2054920441
NM_024301.5(FKRP):c.857G>A (p.Trp286Ter)
NM_024301.5(FKRP):c.859T>C (p.Phe287Leu) rs2054920778
NM_024301.5(FKRP):c.863G>T (p.Gly288Val)
NM_024301.5(FKRP):c.867C>T (p.Cys289=)
NM_024301.5(FKRP):c.86A>G (p.His29Arg)
NM_024301.5(FKRP):c.877A>G (p.Thr293Ala) rs2122625896
NM_024301.5(FKRP):c.879C>A (p.Thr293=)
NM_024301.5(FKRP):c.879C>T (p.Thr293=)
NM_024301.5(FKRP):c.881C>A (p.Thr294Lys) rs1333089122
NM_024301.5(FKRP):c.882G>A (p.Thr294=)
NM_024301.5(FKRP):c.882G>C (p.Thr294=) rs2122625984
NM_024301.5(FKRP):c.882G>T (p.Thr294=)
NM_024301.5(FKRP):c.883C>G (p.Arg295Gly) rs2054921636
NM_024301.5(FKRP):c.885C>G (p.Arg295=)
NM_024301.5(FKRP):c.888C>T (p.Cys296=)
NM_024301.5(FKRP):c.88C>T (p.Gln30Ter)
NM_024301.5(FKRP):c.890T>G (p.Phe297Cys) rs2122626168
NM_024301.5(FKRP):c.891C>G (p.Phe297Leu) rs1473348553
NM_024301.5(FKRP):c.891C>T (p.Phe297=)
NM_024301.5(FKRP):c.892G>A (p.Gly298Arg) rs886043401
NM_024301.5(FKRP):c.892G>T (p.Gly298Ter) rs886043401
NM_024301.5(FKRP):c.897dup (p.Val300fs)
NM_024301.5(FKRP):c.900G>T (p.Val300=) rs2054922276
NM_024301.5(FKRP):c.906C>T (p.Gly302=) rs2122626586
NM_024301.5(FKRP):c.907G>A (p.Asp303Asn) rs765811792
NM_024301.5(FKRP):c.909C>T (p.Asp303=) rs2122626640
NM_024301.5(FKRP):c.912G>A (p.Thr304=) rs1301337774
NM_024301.5(FKRP):c.913C>A (p.Pro305Thr) rs2122626729
NM_024301.5(FKRP):c.915C>A (p.Pro305=) rs1372543621
NM_024301.5(FKRP):c.915C>T (p.Pro305=) rs1372543621
NM_024301.5(FKRP):c.918C>G (p.Ala306=)
NM_024301.5(FKRP):c.919del (p.Tyr307fs) rs2122626858
NM_024301.5(FKRP):c.91C>T (p.Pro31Ser)
NM_024301.5(FKRP):c.928G>A (p.Glu310Lys)
NM_024301.5(FKRP):c.928G>C (p.Glu310Gln) rs765885747
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter) rs765885747
NM_024301.5(FKRP):c.930G>A (p.Glu310=)
NM_024301.5(FKRP):c.933G>C (p.Glu311Asp) rs911700598
NM_024301.5(FKRP):c.934C>G (p.Arg312Gly)
NM_024301.5(FKRP):c.935G>A (p.Arg312His)
NM_024301.5(FKRP):c.935G>C (p.Arg312Pro)
NM_024301.5(FKRP):c.935G>T (p.Arg312Leu) rs868138875
NM_024301.5(FKRP):c.936C>G (p.Arg312=)
NM_024301.5(FKRP):c.938G>A (p.Trp313Ter)
NM_024301.5(FKRP):c.940A>G (p.Thr314Ala)
NM_024301.5(FKRP):c.941C>T (p.Thr314Met) rs398124395
NM_024301.5(FKRP):c.942G>C (p.Thr314=)
NM_024301.5(FKRP):c.943C>G (p.Pro315Ala) rs1161657651
NM_024301.5(FKRP):c.945C>G (p.Pro315=) rs2122627518
NM_024301.5(FKRP):c.946C>A (p.Pro316Thr) rs28937901
NM_024301.5(FKRP):c.946C>G (p.Pro316Ala) rs28937901
NM_024301.5(FKRP):c.947_948del (p.Pro316fs)
NM_024301.5(FKRP):c.947_948insA (p.Cys317fs) rs2122627673
NM_024301.5(FKRP):c.948C>A (p.Pro316=) rs945877846
NM_024301.5(FKRP):c.948C>T (p.Pro316=) rs945877846
NM_024301.5(FKRP):c.948del (p.Cys317fs) rs748798133
NM_024301.5(FKRP):c.949del (p.Cys317fs)
NM_024301.5(FKRP):c.950G>A (p.Cys317Tyr)
NM_024301.5(FKRP):c.953G>A (p.Cys318Tyr) rs104894684
NM_024301.5(FKRP):c.955C>T (p.Leu319=) rs777792222
NM_024301.5(FKRP):c.957G>C (p.Leu319=)
NM_024301.5(FKRP):c.957G>T (p.Leu319=)
NM_024301.5(FKRP):c.960C>G (p.Arg320=)
NM_024301.5(FKRP):c.960C>T (p.Arg320=) rs2054924886
NM_024301.5(FKRP):c.961G>A (p.Ala321Thr)
NM_024301.5(FKRP):c.963G>A (p.Ala321=)
NM_024301.5(FKRP):c.963G>C (p.Ala321=) rs2054925068
NM_024301.5(FKRP):c.963_964del (p.Leu322fs) rs1555738883
NM_024301.5(FKRP):c.964C>G (p.Leu322Val) rs794727653
NM_024301.5(FKRP):c.969C>A (p.Arg323=) rs532054402
NM_024301.5(FKRP):c.969C>G (p.Arg323=)
NM_024301.5(FKRP):c.970G>T (p.Glu324Ter) rs886044183
NM_024301.5(FKRP):c.975C>G (p.Thr325=)
NM_024301.5(FKRP):c.976G>T (p.Ala326Ser) rs1201873802
NM_024301.5(FKRP):c.978C>A (p.Ala326=)
NM_024301.5(FKRP):c.978C>T (p.Ala326=)
NM_024301.5(FKRP):c.979C>G (p.Arg327Gly) rs867877678
NM_024301.5(FKRP):c.979C>T (p.Arg327Cys)
NM_024301.5(FKRP):c.979dup (p.Arg327fs) rs2122628653
NM_024301.5(FKRP):c.97A>G (p.Asn33Asp)
NM_024301.5(FKRP):c.981C>T (p.Arg327=) rs2122628775
NM_024301.5(FKRP):c.983A>G (p.Tyr328Cys)
NM_024301.5(FKRP):c.984T>A (p.Tyr328Ter)
NM_024301.5(FKRP):c.985G>A (p.Val329Met)
NM_024301.5(FKRP):c.987G>A (p.Val329=)
NM_024301.5(FKRP):c.987G>T (p.Val329=) rs2122628920
NM_024301.5(FKRP):c.994G>A (p.Val332Met) rs768917965
NM_024301.5(FKRP):c.996G>A (p.Val332=)
NM_024301.5(FKRP):c.998_1015del (p.Leu333_Val338del) rs2122628972
NM_024301.5(FKRP):c.9C>G (p.Leu3=) rs756295058
NM_032237.5(POMK):c.1011A>G (p.Thr337=)
NM_032237.5(POMK):c.1044G>T (p.Glu348Asp) rs1426912299
NM_032237.5(POMK):c.110G>C (p.Cys37Ser) rs149845778
NM_032237.5(POMK):c.121T>G (p.Phe41Val) rs1811490118
NM_032237.5(POMK):c.137G>A (p.Arg46Gln)
NM_032237.5(POMK):c.150G>C (p.Val50=) rs2130601396
NM_032237.5(POMK):c.152del (p.Asp51fs) rs2130601407
NM_032237.5(POMK):c.154C>T (p.Pro52Ser)
NM_032237.5(POMK):c.174T>G (p.Gly58=)
NM_032237.5(POMK):c.181A>G (p.Arg61Gly) rs201953159
NM_032237.5(POMK):c.183G>C (p.Arg61Ser) rs778749095
NM_032237.5(POMK):c.197A>G (p.Lys66Arg)
NM_032237.5(POMK):c.208C>T (p.Pro70Ser)
NM_032237.5(POMK):c.215T>C (p.Leu72Pro) rs1811493094
NM_032237.5(POMK):c.222C>G (p.Cys74Trp)
NM_032237.5(POMK):c.223G>A (p.Glu75Lys)
NM_032237.5(POMK):c.238_239del (p.Glu80fs) rs1454006905
NM_032237.5(POMK):c.247C>T (p.Gln83Ter)
NM_032237.5(POMK):c.24C>T (p.Ser8=)
NM_032237.5(POMK):c.257G>A (p.Arg86His) rs201095843
NM_032237.5(POMK):c.259G>C (p.Val87Leu)
NM_032237.5(POMK):c.265G>A (p.Glu89Lys) rs925752217
NM_032237.5(POMK):c.268G>A (p.Gly90Arg) rs2130601657
NM_032237.5(POMK):c.276A>G (p.Val92=)
NM_032237.5(POMK):c.280A>T (p.Arg94Ter)
NM_032237.5(POMK):c.282+10G>A
NM_032237.5(POMK):c.282+12T>A rs1478878602
NM_032237.5(POMK):c.282+1G>C rs1206884841
NM_032237.5(POMK):c.283-19C>G rs748829841
NM_032237.5(POMK):c.283-6T>C
NM_032237.5(POMK):c.283-9_283-8del rs2130626184
NM_032237.5(POMK):c.288del (p.Leu97fs) rs606231306
NM_032237.5(POMK):c.28A>G (p.Arg10Gly) rs1811485587
NM_032237.5(POMK):c.311A>C (p.Lys104Thr)
NM_032237.5(POMK):c.311A>G (p.Lys104Arg)
NM_032237.5(POMK):c.312A>G (p.Lys104=)
NM_032237.5(POMK):c.315T>G (p.Val105=)
NM_032237.5(POMK):c.319C>T (p.Leu107Phe) rs867790285
NM_032237.5(POMK):c.325C>T (p.Gln109Ter) rs587777423
NM_032237.5(POMK):c.333C>T (p.Thr111=)
NM_032237.5(POMK):c.33C>A (p.Gly11=) rs967238740
NM_032237.5(POMK):c.347A>G (p.Lys116Arg) rs2130626356
NM_032237.5(POMK):c.352G>T (p.Asp118Tyr)
NM_032237.5(POMK):c.360C>T (p.Leu120=) rs144790751
NM_032237.5(POMK):c.36C>T (p.Leu12=)
NM_032237.5(POMK):c.37G>A (p.Ala13Thr)
NM_032237.5(POMK):c.383C>T (p.Ser128Phe) rs1482823387
NM_032237.5(POMK):c.385C>T (p.Leu129Phe)
NM_032237.5(POMK):c.386_387del (p.Leu129fs) rs2130626422
NM_032237.5(POMK):c.39C>G (p.Ala13=) rs762781994
NM_032237.5(POMK):c.39C>T (p.Ala13=)
NM_032237.5(POMK):c.401T>A (p.Val134Asp)
NM_032237.5(POMK):c.404T>A (p.Val135Asp) rs2130626484
NM_032237.5(POMK):c.407C>A (p.Thr136Lys) rs138216719
NM_032237.5(POMK):c.408G>T (p.Thr136=)
NM_032237.5(POMK):c.419A>G (p.Tyr140Cys)
NM_032237.5(POMK):c.422G>C (p.Cys141Ser)
NM_032237.5(POMK):c.436A>T (p.Thr146Ser) rs1811932910
NM_032237.5(POMK):c.437C>G (p.Thr146Ser)
NM_032237.5(POMK):c.43C>G (p.Arg15Gly) rs774013796
NM_032237.5(POMK):c.43dup (p.Arg15fs) rs749980792
NM_032237.5(POMK):c.44G>T (p.Arg15Leu)
NM_032237.5(POMK):c.450A>G (p.Glu150=) rs1811933320
NM_032237.5(POMK):c.452_455dup (p.His152fs) rs2130626601
NM_032237.5(POMK):c.454C>A (p.His152Asn)
NM_032237.5(POMK):c.456C>A (p.His152Gln) rs1363145685
NM_032237.5(POMK):c.459del (p.Pro153_Leu154insTer)
NM_032237.5(POMK):c.464G>C (p.Gly155Ala)
NM_032237.5(POMK):c.473G>A (p.Ser158Asn)
NM_032237.5(POMK):c.47A>G (p.Glu16Gly) rs1811486808
NM_032237.5(POMK):c.481G>A (p.Glu161Lys) rs2130626660
NM_032237.5(POMK):c.489A>C (p.Thr163=)
NM_032237.5(POMK):c.502A>G (p.Lys168Glu)
NM_032237.5(POMK):c.504G>A (p.Lys168=)
NM_032237.5(POMK):c.505T>C (p.Tyr169His) rs2130626707
NM_032237.5(POMK):c.520A>G (p.Thr174Ala) rs753604559
NM_032237.5(POMK):c.521C>T (p.Thr174Met)
NM_032237.5(POMK):c.522G>A (p.Thr174=)
NM_032237.5(POMK):c.53C>T (p.Pro18Leu)
NM_032237.5(POMK):c.541C>T (p.Leu181=) rs563599638
NM_032237.5(POMK):c.545C>T (p.Ala182Val) rs1811935914
NM_032237.5(POMK):c.551A>G (p.Asp184Gly)
NM_032237.5(POMK):c.553T>C (p.Tyr185His)
NM_032237.5(POMK):c.555T>C (p.Tyr185=)
NM_032237.5(POMK):c.556G>T (p.Val186Phe) rs1241051300
NM_032237.5(POMK):c.576G>A (p.Leu192=) rs1227666493
NM_032237.5(POMK):c.577C>G (p.His193Asp)
NM_032237.5(POMK):c.598C>T (p.Arg200Trp)
NM_032237.5(POMK):c.599G>A (p.Arg200Gln) rs146214675
NM_032237.5(POMK):c.599G>T (p.Arg200Leu) rs146214675
NM_032237.5(POMK):c.622C>T (p.Leu208=)
NM_032237.5(POMK):c.634C>G (p.Leu212Val)
NM_032237.5(POMK):c.641A>T (p.Gln214Leu) rs1250212576
NM_032237.5(POMK):c.642G>A (p.Gln214=)
NM_032237.5(POMK):c.645T>G (p.Tyr215Ter)
NM_032237.5(POMK):c.657C>A (p.Ser219Arg) rs1811940888
NM_032237.5(POMK):c.661T>C (p.Phe221Leu) rs1811941055
NM_032237.5(POMK):c.719T>C (p.Met240Thr) rs1811942751
NM_032237.5(POMK):c.724dup (p.Val242fs)
NM_032237.5(POMK):c.737A>G (p.His246Arg)
NM_032237.5(POMK):c.739A>G (p.Arg247Gly)
NM_032237.5(POMK):c.745C>A (p.Leu249Met) rs2130627298
NM_032237.5(POMK):c.745C>T (p.Leu249=)
NM_032237.5(POMK):c.74T>C (p.Leu25Pro) rs1811488354
NM_032237.5(POMK):c.754dup (p.Asp252fs)
NM_032237.5(POMK):c.76A>C (p.Ile26Leu) rs1586671643
NM_032237.5(POMK):c.775C>T (p.Leu259=) rs947882915
NM_032237.5(POMK):c.803del (p.Phe268fs)
NM_032237.5(POMK):c.804C>T (p.Phe268=)
NM_032237.5(POMK):c.808G>C (p.Asp270His)
NM_032237.5(POMK):c.80T>C (p.Met27Thr) rs2130601203
NM_032237.5(POMK):c.817A>T (p.Met273Leu) rs1344780295
NM_032237.5(POMK):c.822C>G (p.Pro274=) rs1331879356
NM_032237.5(POMK):c.822C>T (p.Pro274=)
NM_032237.5(POMK):c.825A>T (p.Ser275=)
NM_032237.5(POMK):c.827A>G (p.Tyr276Cys) rs1811945936
NM_032237.5(POMK):c.847del (p.Trp283fs)
NM_032237.5(POMK):c.859G>A (p.Asp287Asn)
NM_032237.5(POMK):c.859G>C (p.Asp287His) rs1811947241
NM_032237.5(POMK):c.869G>C (p.Ser290Thr)
NM_032237.5(POMK):c.874C>T (p.Leu292Phe) rs1811947580
NM_032237.5(POMK):c.883C>T (p.His295Tyr) rs1554524387
NM_032237.5(POMK):c.914A>G (p.His305Arg)
NM_032237.5(POMK):c.938G>A (p.Cys313Tyr)
NM_032237.5(POMK):c.94_98del (p.Thr32fs)
NM_032237.5(POMK):c.965C>T (p.Pro322Leu) rs747083630
NM_032237.5(POMK):c.96T>G (p.Thr32=)
NM_032237.5(POMK):c.970G>T (p.Ala324Ser)
NM_032237.5(POMK):c.979G>C (p.Val327Leu) rs546931054
NM_032806.6(POMGNT2):c.-43C>T rs2936818
NM_032806.6(POMGNT2):c.1000_1003del (p.Leu334fs) rs2089839448
NM_032806.6(POMGNT2):c.1007G>A (p.Ser336Asn) rs377756333
NM_032806.6(POMGNT2):c.1012G>A (p.Ala338Thr) rs2125700054
NM_032806.6(POMGNT2):c.1038G>T (p.Gly346=)
NM_032806.6(POMGNT2):c.1042C>T (p.Gln348Ter) rs1021357430
NM_032806.6(POMGNT2):c.1059C>G (p.Leu353=) rs2125700007
NM_032806.6(POMGNT2):c.1062C>A (p.Phe354Leu) rs2089838642
NM_032806.6(POMGNT2):c.1072G>A (p.Gly358Arg)
NM_032806.6(POMGNT2):c.1085T>C (p.Val362Ala)
NM_032806.6(POMGNT2):c.109G>A (p.Ala37Thr) rs1335685375
NM_032806.6(POMGNT2):c.1108A>G (p.Asn370Asp)
NM_032806.6(POMGNT2):c.1109A>G (p.Asn370Ser)
NM_032806.6(POMGNT2):c.1130A>G (p.Tyr377Cys)
NM_032806.6(POMGNT2):c.1136C>T (p.Thr379Met) rs918586203
NM_032806.6(POMGNT2):c.1137G>T (p.Thr379=) rs377724350
NM_032806.6(POMGNT2):c.1139T>C (p.Leu380Pro) rs750946944
NM_032806.6(POMGNT2):c.1149G>A (p.Leu383=)
NM_032806.6(POMGNT2):c.1156A>T (p.Met386Leu)
NM_032806.6(POMGNT2):c.1170T>G (p.Tyr390Ter)
NM_032806.6(POMGNT2):c.1173A>G (p.Val391=) rs1183137342
NM_032806.6(POMGNT2):c.1180C>G (p.Arg394Gly) rs146126985
NM_032806.6(POMGNT2):c.1180C>T (p.Arg394Trp) rs146126985
NM_032806.6(POMGNT2):c.118C>T (p.Arg40Ter) rs2089853535
NM_032806.6(POMGNT2):c.11C>T (p.Ser4Leu)
NM_032806.6(POMGNT2):c.1214C>G (p.Pro405Arg)
NM_032806.6(POMGNT2):c.1220G>A (p.Arg407Gln)
NM_032806.6(POMGNT2):c.1221G>T (p.Arg407=) rs2125699837
NM_032806.6(POMGNT2):c.1238G>C (p.Gly413Ala) rs1368751789
NM_032806.6(POMGNT2):c.1239C>T (p.Gly413=)
NM_032806.6(POMGNT2):c.1244C>T (p.Thr415Ile)
NM_032806.6(POMGNT2):c.1249C>A (p.Leu417Met) rs2089835416
NM_032806.6(POMGNT2):c.1258del (p.Ala420fs) rs1575461722
NM_032806.6(POMGNT2):c.1271G>T (p.Arg424Leu) rs775667995
NM_032806.6(POMGNT2):c.1277T>G (p.Leu426Arg)
NM_032806.6(POMGNT2):c.1291G>A (p.Val431Ile)
NM_032806.6(POMGNT2):c.1312C>G (p.Arg438Gly) rs758077352
NM_032806.6(POMGNT2):c.1312C>T (p.Arg438Trp) rs758077352
NM_032806.6(POMGNT2):c.1313G>T (p.Arg438Leu) rs371405205
NM_032806.6(POMGNT2):c.1326G>A (p.Trp442Ter) rs2125699699
NM_032806.6(POMGNT2):c.1333C>A (p.Arg445=) rs387907299
NM_032806.6(POMGNT2):c.1333C>T (p.Arg445Ter) rs387907299
NM_032806.6(POMGNT2):c.1344G>A (p.Gln448=) rs767879383
NM_032806.6(POMGNT2):c.1350C>A (p.Thr450=) rs766467191
NM_032806.6(POMGNT2):c.1353G>C (p.Lys451Asn)
NM_032806.6(POMGNT2):c.1365G>T (p.Pro455=)
NM_032806.6(POMGNT2):c.1368C>T (p.Ser456=)
NM_032806.6(POMGNT2):c.1380C>A (p.Thr460=) rs375414490
NM_032806.6(POMGNT2):c.1385G>A (p.Arg462Gln) rs34083889
NM_032806.6(POMGNT2):c.1385G>T (p.Arg462Leu) rs34083889
NM_032806.6(POMGNT2):c.1403G>A (p.Arg468Gln)
NM_032806.6(POMGNT2):c.1404G>A (p.Arg468=)
NM_032806.6(POMGNT2):c.1409G>A (p.Gly470Glu)
NM_032806.6(POMGNT2):c.1419G>A (p.Lys473=)
NM_032806.6(POMGNT2):c.1446A>C (p.Pro482=)
NM_032806.6(POMGNT2):c.1459G>A (p.Glu487Lys) rs2089832147
NM_032806.6(POMGNT2):c.1479A>G (p.Ser493=)
NM_032806.6(POMGNT2):c.1489G>A (p.Ala497Thr)
NM_032806.6(POMGNT2):c.14C>A (p.Ala5Glu)
NM_032806.6(POMGNT2):c.1504C>G (p.Leu502Val) rs1369256836
NM_032806.6(POMGNT2):c.1510del (p.Val504fs)
NM_032806.6(POMGNT2):c.152T>C (p.Ile51Thr) rs1338816845
NM_032806.6(POMGNT2):c.1553G>A (p.Arg518Lys) rs2089830692
NM_032806.6(POMGNT2):c.1555G>T (p.Glu519Ter) rs747691921
NM_032806.6(POMGNT2):c.1568A>T (p.Glu523Val) rs1207150912
NM_032806.6(POMGNT2):c.1570G>A (p.Val524Met)
NM_032806.6(POMGNT2):c.1572G>A (p.Val524=)
NM_032806.6(POMGNT2):c.1587G>A (p.Gln529=)
NM_032806.6(POMGNT2):c.1591del (p.Glu531fs) rs2125699348
NM_032806.6(POMGNT2):c.1621C>T (p.Leu541=) rs753930965
NM_032806.6(POMGNT2):c.162G>T (p.Pro54=)
NM_032806.6(POMGNT2):c.1630C>G (p.His544Asp) rs2089829509
NM_032806.6(POMGNT2):c.1643A>G (p.Glu548Gly)
NM_032806.6(POMGNT2):c.1653G>A (p.Lys551=) rs2125699292
NM_032806.6(POMGNT2):c.1682G>A (p.Arg561His)
NM_032806.6(POMGNT2):c.1687A>G (p.Ile563Val) rs1316924045
NM_032806.6(POMGNT2):c.1697A>G (p.Lys566Arg)
NM_032806.6(POMGNT2):c.1701CCT[1] (p.Leu569del) rs2089828622
NM_032806.6(POMGNT2):c.1705C>T (p.Leu569=)
NM_032806.6(POMGNT2):c.170T>C (p.Leu57Pro)
NM_032806.6(POMGNT2):c.1716T>G (p.Phe572Leu) rs1575461128
NM_032806.6(POMGNT2):c.1716_1717dup (p.Ala573fs) rs2089828424
NM_032806.6(POMGNT2):c.1729G>T (p.Val577Leu)
NM_032806.6(POMGNT2):c.174G>C (p.Gln58His) rs2089852658
NM_032806.6(POMGNT2):c.177C>T (p.Ile59=)
NM_032806.6(POMGNT2):c.196C>G (p.His66Asp)
NM_032806.6(POMGNT2):c.200T>C (p.Met67Thr) rs2089852276
NM_032806.6(POMGNT2):c.209C>T (p.Thr70Met)
NM_032806.6(POMGNT2):c.218C>T (p.Thr73Met)
NM_032806.6(POMGNT2):c.255C>G (p.Cys85Trp)
NM_032806.6(POMGNT2):c.260C>T (p.Ser87Phe) rs2125701000
NM_032806.6(POMGNT2):c.261C>T (p.Ser87=) rs1575463050
NM_032806.6(POMGNT2):c.263A>G (p.Asn88Ser)
NM_032806.6(POMGNT2):c.270T>C (p.Ala90=)
NM_032806.6(POMGNT2):c.283TTC[1] (p.Phe96del) rs767570675
NM_032806.6(POMGNT2):c.286T>C (p.Phe96Leu)
NM_032806.6(POMGNT2):c.28C>T (p.Leu10Phe)
NM_032806.6(POMGNT2):c.307A>G (p.Met103Val) rs2125700930
NM_032806.6(POMGNT2):c.321G>C (p.Leu107=) rs1575462988
NM_032806.6(POMGNT2):c.33G>C (p.Leu11=)
NM_032806.6(POMGNT2):c.341C>G (p.Pro114Arg)
NM_032806.6(POMGNT2):c.352G>A (p.Asp118Asn) rs2089849978
NM_032806.6(POMGNT2):c.363C>G (p.Thr121=) rs200345083
NM_032806.6(POMGNT2):c.364G>T (p.Val122Leu) rs149948290
NM_032806.6(POMGNT2):c.36G>T (p.Val12=)
NM_032806.6(POMGNT2):c.37T>G (p.Ser13Ala) rs2089855148
NM_032806.6(POMGNT2):c.380C>G (p.Thr127Ser) rs2125700845
NM_032806.6(POMGNT2):c.381_382del (p.Gln128fs)
NM_032806.6(POMGNT2):c.396C>T (p.Phe132=) rs150567400
NM_032806.6(POMGNT2):c.39G>A (p.Ser13=) rs59831271
NM_032806.6(POMGNT2):c.39G>C (p.Ser13=) rs59831271
NM_032806.6(POMGNT2):c.40del (p.Val14fs)
NM_032806.6(POMGNT2):c.410_411delinsG (p.Ala137fs) rs2125700808
NM_032806.6(POMGNT2):c.415G>C (p.Ala139Pro) rs2125700805
NM_032806.6(POMGNT2):c.424T>A (p.Phe142Ile) rs2125700782
NM_032806.6(POMGNT2):c.441G>T (p.Val147=) rs2089848677
NM_032806.6(POMGNT2):c.442T>C (p.Phe148Leu) rs1575462833
NM_032806.6(POMGNT2):c.451G>C (p.Asp151His) rs2089848441
NM_032806.6(POMGNT2):c.458C>G (p.Ala153Gly) rs1559414712
NM_032806.6(POMGNT2):c.466G>A (p.Ala156Thr) rs145184880
NM_032806.6(POMGNT2):c.471C>T (p.Asn157=)
NM_032806.6(POMGNT2):c.478A>C (p.Asn160His) rs773297624
NM_032806.6(POMGNT2):c.483C>T (p.Pro161=) rs548747822
NM_032806.6(POMGNT2):c.503T>C (p.Phe168Ser) rs2125700641
NM_032806.6(POMGNT2):c.513C>T (p.Asp171=) rs1575462703
NM_032806.6(POMGNT2):c.514C>T (p.Leu172=)
NM_032806.6(POMGNT2):c.528C>T (p.Phe176=) rs777276517
NM_032806.6(POMGNT2):c.531C>T (p.Tyr177=)
NM_032806.6(POMGNT2):c.535C>T (p.Leu179=)
NM_032806.6(POMGNT2):c.538C>A (p.Arg180=) rs371895867
NM_032806.6(POMGNT2):c.555G>A (p.Leu185=) rs564420247
NM_032806.6(POMGNT2):c.561C>G (p.His187Gln)
NM_032806.6(POMGNT2):c.562G>A (p.Glu188Lys)
NM_032806.6(POMGNT2):c.573C>T (p.Leu191=)
NM_032806.6(POMGNT2):c.580A>T (p.Met194Leu)
NM_032806.6(POMGNT2):c.582G>T (p.Met194Ile) rs1452053627
NM_032806.6(POMGNT2):c.595G>A (p.Glu199Lys)
NM_032806.6(POMGNT2):c.607_618del (p.Phe203_Tyr206del) rs774277094
NM_032806.6(POMGNT2):c.610G>A (p.Asp204Asn) rs761923554
NM_032806.6(POMGNT2):c.622C>T (p.Leu208=)
NM_032806.6(POMGNT2):c.625C>T (p.Leu209Phe) rs140274895
NM_032806.6(POMGNT2):c.628A>G (p.Ser210Gly)
NM_032806.6(POMGNT2):c.629G>T (p.Ser210Ile) rs561770941
NM_032806.6(POMGNT2):c.632C>T (p.Pro211Leu)
NM_032806.6(POMGNT2):c.641C>G (p.Pro214Arg)
NM_032806.6(POMGNT2):c.652G>A (p.Ala218Thr) rs1559414478
NM_032806.6(POMGNT2):c.680T>A (p.Leu227Gln) rs1559414462
NM_032806.6(POMGNT2):c.681G>A (p.Leu227=) rs371425376
NM_032806.6(POMGNT2):c.681G>T (p.Leu227=) rs371425376
NM_032806.6(POMGNT2):c.702G>T (p.Val234=)
NM_032806.6(POMGNT2):c.703G>T (p.Gly235Cys)
NM_032806.6(POMGNT2):c.706C>T (p.Leu236Phe) rs2089843804
NM_032806.6(POMGNT2):c.717C>G (p.Ile239Met)
NM_032806.6(POMGNT2):c.723C>A (p.Thr241=)
NM_032806.6(POMGNT2):c.731A>G (p.Gln244Arg) rs2089843560
NM_032806.6(POMGNT2):c.735T>C (p.Tyr245=)
NM_032806.6(POMGNT2):c.745C>T (p.Gln249Ter) rs1553618354
NM_032806.6(POMGNT2):c.747G>C (p.Gln249His) rs762976283
NM_032806.6(POMGNT2):c.749C>T (p.Pro250Leu)
NM_032806.6(POMGNT2):c.762G>T (p.Lys254Asn) rs115870061
NM_032806.6(POMGNT2):c.769A>G (p.Ile257Val)
NM_032806.6(POMGNT2):c.784A>G (p.Asn262Asp)
NM_032806.6(POMGNT2):c.786T>C (p.Asn262=)
NM_032806.6(POMGNT2):c.799T>A (p.Phe267Ile) rs778188247
NM_032806.6(POMGNT2):c.811A>C (p.Met271Leu)
NM_032806.6(POMGNT2):c.817_818del (p.Glu273fs)
NM_032806.6(POMGNT2):c.820_821del (p.Lys274fs) rs2125700249
NM_032806.6(POMGNT2):c.828C>A (p.Asn276Lys) rs150404794
NM_032806.6(POMGNT2):c.837C>G (p.His279Gln) rs2089842075
NM_032806.6(POMGNT2):c.837C>T (p.His279=) rs2089842075
NM_032806.6(POMGNT2):c.839C>G (p.Thr280Arg) rs1575462305
NM_032806.6(POMGNT2):c.844G>A (p.Val282Ile) rs2089841975
NM_032806.6(POMGNT2):c.859G>A (p.Glu287Lys) rs774815839
NM_032806.6(POMGNT2):c.881G>A (p.Arg294Gln)
NM_032806.6(POMGNT2):c.890A>G (p.Asn297Ser)
NM_032806.6(POMGNT2):c.891C>A (p.Asn297Lys) rs1269685677
NM_032806.6(POMGNT2):c.906T>G (p.Asn302Lys) rs781062694
NM_032806.6(POMGNT2):c.909G>A (p.Glu303=)
NM_032806.6(POMGNT2):c.915G>A (p.Glu305=)
NM_032806.6(POMGNT2):c.929T>C (p.Leu310Pro) rs2125700151
NM_032806.6(POMGNT2):c.931G>A (p.Ala311Thr) rs2089840767
NM_032806.6(POMGNT2):c.944A>G (p.Gln315Arg)
NM_032806.6(POMGNT2):c.979A>C (p.Thr327Pro) rs1343154694
NM_032806.6(POMGNT2):c.993C>T (p.Val331=)
NM_058174.3(COL6A2):c.2654C>G (p.Thr885Ser)
NM_133642.5(LARGE1):c.*479A>T rs886057459
NM_133642.5(LARGE1):c.*501T>C rs886057457
NM_133642.5(LARGE1):c.*639T>G rs373361875
NM_133642.5(LARGE1):c.*995T>C rs1928531659
NM_133642.5(LARGE1):c.-202C>A rs946350081
NM_133642.5(LARGE1):c.-292G>C rs886057466
NM_133642.5(LARGE1):c.-377C>G rs1218154642
NM_133642.5(LARGE1):c.1002C>A (p.Asp334Glu) rs2147134497
NM_133642.5(LARGE1):c.1005+11A>G
NM_133642.5(LARGE1):c.1005+13G>T
NM_133642.5(LARGE1):c.1005+17G>T
NM_133642.5(LARGE1):c.1005+3G>A
NM_133642.5(LARGE1):c.1005+5G>A rs1204892970
NM_133642.5(LARGE1):c.1005+9C>G
NM_133642.5(LARGE1):c.1006-11del
NM_133642.5(LARGE1):c.1006-20C>T
NM_133642.5(LARGE1):c.1006-4C>T
NM_133642.5(LARGE1):c.1006-5C>T rs977498462
NM_133642.5(LARGE1):c.1006-6C>T
NM_133642.5(LARGE1):c.1006-7C>A
NM_133642.5(LARGE1):c.1014C>T (p.Phe338=) rs758924905
NM_133642.5(LARGE1):c.1016A>G (p.Asn339Ser)
NM_133642.5(LARGE1):c.1019C>T (p.Ala340Val)
NM_133642.5(LARGE1):c.1021G>A (p.Val341Ile)
NM_133642.5(LARGE1):c.1029A>G (p.Lys343=)
NM_133642.5(LARGE1):c.102C>T (p.Phe34=)
NM_133642.5(LARGE1):c.1030C>T (p.Gln344Ter)
NM_133642.5(LARGE1):c.1033_1034dup (p.Asn345fs) rs1569112355
NM_133642.5(LARGE1):c.1047G>A (p.Val349=)
NM_133642.5(LARGE1):c.1050C>T (p.Tyr350=)
NM_133642.5(LARGE1):c.106+10G>A
NM_133642.5(LARGE1):c.106+14C>T
NM_133642.5(LARGE1):c.106+3A>T
NM_133642.5(LARGE1):c.106+7A>G
NM_133642.5(LARGE1):c.107-11T>C
NM_133642.5(LARGE1):c.107-19C>G
NM_133642.5(LARGE1):c.107-6C>T
NM_133642.5(LARGE1):c.107-7T>C
NM_133642.5(LARGE1):c.107-9G>A
NM_133642.5(LARGE1):c.1093C>T (p.Arg365Cys) rs1361308052
NM_133642.5(LARGE1):c.1095C>A (p.Arg365=) rs775639749
NM_133642.5(LARGE1):c.1095C>T (p.Arg365=)
NM_133642.5(LARGE1):c.1098C>T (p.Ser366=)
NM_133642.5(LARGE1):c.1110C>T (p.Tyr370=)
NM_133642.5(LARGE1):c.1113A>G (p.Arg371=)
NM_133642.5(LARGE1):c.1119G>C (p.Val373=)
NM_133642.5(LARGE1):c.1126C>T (p.Leu376=)
NM_133642.5(LARGE1):c.1131+10A>T
NM_133642.5(LARGE1):c.1131+11C>T
NM_133642.5(LARGE1):c.1131+12_1131+13insAACAGAGGGACATCCCTGGAGGTAGGGTG rs2147112788
NM_133642.5(LARGE1):c.1131+15G>C
NM_133642.5(LARGE1):c.1131+16G>T
NM_133642.5(LARGE1):c.1131+17G>A
NM_133642.5(LARGE1):c.1131+4G>A
NM_133642.5(LARGE1):c.1132-10T>C
NM_133642.5(LARGE1):c.1132-11C>G
NM_133642.5(LARGE1):c.1132-16del
NM_133642.5(LARGE1):c.1132-2A>G
NM_133642.5(LARGE1):c.1132-4C>A
NM_133642.5(LARGE1):c.1132-4C>T
NM_133642.5(LARGE1):c.1132-5G>T
NM_133642.5(LARGE1):c.1138C>G (p.His380Asp) rs1938648531
NM_133642.5(LARGE1):c.1140C>T (p.His380=)
NM_133642.5(LARGE1):c.115C>T (p.Pro39Ser)
NM_133642.5(LARGE1):c.1162C>T (p.Arg388Trp) rs767127452
NM_133642.5(LARGE1):c.1170G>A (p.Lys390=)
NM_133642.5(LARGE1):c.1176G>A (p.Lys392=)
NM_133642.5(LARGE1):c.1185G>A (p.Glu395=) rs1431706655
NM_133642.5(LARGE1):c.118G>C (p.Val40Leu) rs188675457
NM_133642.5(LARGE1):c.118G>T (p.Val40Leu) rs188675457
NM_133642.5(LARGE1):c.1192C>T (p.Arg398Cys) rs1376994263
NM_133642.5(LARGE1):c.1196A>C (p.Asn399Thr)
NM_133642.5(LARGE1):c.1200C>G (p.Leu400=)
NM_133642.5(LARGE1):c.1201_1202delinsCT (p.Tyr401Leu) rs1938639225
NM_133642.5(LARGE1):c.1206G>A (p.Leu402=) rs982770696
NM_133642.5(LARGE1):c.1209del (p.Phe404fs) rs1938637889
NM_133642.5(LARGE1):c.120G>A (p.Val40=)
NM_133642.5(LARGE1):c.1224C>T (p.Asp408=)
NM_133642.5(LARGE1):c.1225G>A (p.Gly409Ser) rs1555898776
NM_133642.5(LARGE1):c.122C>T (p.Ser41Phe)
NM_133642.5(LARGE1):c.123T>A (p.Ser41=)
NM_133642.5(LARGE1):c.123T>C (p.Ser41=)
NM_133642.5(LARGE1):c.1242G>A (p.Arg414=)
NM_133642.5(LARGE1):c.124C>T (p.Leu42=)
NM_133642.5(LARGE1):c.1250T>G (p.Phe417Cys)
NM_133642.5(LARGE1):c.1254C>T (p.Gly418=)
NM_133642.5(LARGE1):c.1257C>T (p.Cys419=)
NM_133642.5(LARGE1):c.1261A>G (p.Ser421Gly) rs905900345
NM_133642.5(LARGE1):c.1272T>A (p.Asp424Glu)
NM_133642.5(LARGE1):c.1272T>C (p.Asp424=)
NM_133642.5(LARGE1):c.1279A>G (p.Ser427Gly) rs1938625368
NM_133642.5(LARGE1):c.1287+12G>T rs370541163
NM_133642.5(LARGE1):c.1287+15_1287+16insGGCTCGCAAAA
NM_133642.5(LARGE1):c.1287+17G>T
NM_133642.5(LARGE1):c.1287+19T>C
NM_133642.5(LARGE1):c.1287+1G>A
NM_133642.5(LARGE1):c.1287+1G>C
NM_133642.5(LARGE1):c.1287+2dup rs2146570024
NM_133642.5(LARGE1):c.1288-10T>C
NM_133642.5(LARGE1):c.1288-12C>G
NM_133642.5(LARGE1):c.1288-18C>G rs750499971
NM_133642.5(LARGE1):c.1288-18C>T
NM_133642.5(LARGE1):c.1288-19C>A rs1263961982
NM_133642.5(LARGE1):c.1288-6C>G
NM_133642.5(LARGE1):c.1288-6C>T
NM_133642.5(LARGE1):c.1288-7C>G
NM_133642.5(LARGE1):c.1288C>G (p.Leu430Val) rs775051738
NM_133642.5(LARGE1):c.129A>G (p.Ser43=)
NM_133642.5(LARGE1):c.1308G>C (p.Glu436Asp)
NM_133642.5(LARGE1):c.1321G>A (p.Asp441Asn) rs915849571
NM_133642.5(LARGE1):c.132G>A (p.Pro44=)
NM_133642.5(LARGE1):c.132G>C (p.Pro44=)
NM_133642.5(LARGE1):c.132G>T (p.Pro44=)
NM_133642.5(LARGE1):c.1339C>T (p.Arg447Trp)
NM_133642.5(LARGE1):c.1343G>A (p.Arg448Gln) rs1064796524
NM_133642.5(LARGE1):c.1348C>T (p.Arg450Cys) rs754744384
NM_133642.5(LARGE1):c.1357G>A (p.Val453Ile)
NM_133642.5(LARGE1):c.1371C>T (p.His457=)
NM_133642.5(LARGE1):c.1372C>T (p.Leu458=)
NM_133642.5(LARGE1):c.1374G>A (p.Leu458=)
NM_133642.5(LARGE1):c.1380C>T (p.Phe460=) rs764722483
NM_133642.5(LARGE1):c.1381C>T (p.Leu461=) rs2146303992
NM_133642.5(LARGE1):c.1383G>A (p.Leu461=)
NM_133642.5(LARGE1):c.1385A>G (p.His462Arg) rs775726150
NM_133642.5(LARGE1):c.1390G>T (p.Glu464Ter)
NM_133642.5(LARGE1):c.1392G>A (p.Glu464=)
NM_133642.5(LARGE1):c.1396G>A (p.Glu466Lys) rs774223611
NM_133642.5(LARGE1):c.140C>T (p.Ser47Phe) rs1427588155
NM_133642.5(LARGE1):c.1411A>G (p.Ser471Gly) rs1936127827
NM_133642.5(LARGE1):c.1419C>T (p.Asp473=)
NM_133642.5(LARGE1):c.1420G>T (p.Val474Phe) rs150861748
NM_133642.5(LARGE1):c.1426C>A (p.Leu476Met) rs369168322
NM_133642.5(LARGE1):c.1428G>A (p.Leu476=)
NM_133642.5(LARGE1):c.1431C>G (p.Val477=) rs987466965
NM_133642.5(LARGE1):c.1433C>T (p.Ala478Val)
NM_133642.5(LARGE1):c.1434T>G (p.Ala478=) rs2146303266
NM_133642.5(LARGE1):c.1440G>A (p.Leu480=)
NM_133642.5(LARGE1):c.1451+12G>C
NM_133642.5(LARGE1):c.1451+13G>A
NM_133642.5(LARGE1):c.1451+9G>C
NM_133642.5(LARGE1):c.1452-13C>T
NM_133642.5(LARGE1):c.1452-13dup
NM_133642.5(LARGE1):c.1452-19C>T
NM_133642.5(LARGE1):c.1452-9C>A
NM_133642.5(LARGE1):c.1457A>G (p.Gln486Arg) rs925299001
NM_133642.5(LARGE1):c.1464G>A (p.Leu488=) rs1361522471
NM_133642.5(LARGE1):c.1473C>A (p.Ile491=) rs1602325498
NM_133642.5(LARGE1):c.1487A>G (p.Glu496Gly)
NM_133642.5(LARGE1):c.1488G>A (p.Glu496=)
NM_133642.5(LARGE1):c.1497C>G (p.Ile499Met)
NM_133642.5(LARGE1):c.1497C>T (p.Ile499=)
NM_133642.5(LARGE1):c.1501C>T (p.Leu501=)
NM_133642.5(LARGE1):c.1503G>C (p.Leu501=)
NM_133642.5(LARGE1):c.1503G>T (p.Leu501=) rs1323217190
NM_133642.5(LARGE1):c.1512C>T (p.Tyr504=) rs1602325222
NM_133642.5(LARGE1):c.1521C>T (p.Asp507=) rs1312649028
NM_133642.5(LARGE1):c.1524C>T (p.Ala508=) rs747233486
NM_133642.5(LARGE1):c.152G>A (p.Ser51Asn) rs758152995
NM_133642.5(LARGE1):c.1536G>A (p.Gln512=)
NM_133642.5(LARGE1):c.1538dup (p.Leu514fs)
NM_133642.5(LARGE1):c.1539C>T (p.Phe513=)
NM_133642.5(LARGE1):c.153C>T (p.Ser51=)
NM_133642.5(LARGE1):c.1545C>G (p.Arg515=)
NM_133642.5(LARGE1):c.1549G>A (p.Ala517Thr)
NM_133642.5(LARGE1):c.1551A>G (p.Ala517=) rs2146165347
NM_133642.5(LARGE1):c.1553A>C (p.Gln518Pro) rs756533976
NM_133642.5(LARGE1):c.1554G>A (p.Gln518=)
NM_133642.5(LARGE1):c.1566G>A (p.Val522=)
NM_133642.5(LARGE1):c.156dup (p.Arg53fs)
NM_133642.5(LARGE1):c.1570A>T (p.Met524Leu) rs2146165030
NM_133642.5(LARGE1):c.1586T>C (p.Val529Ala) rs2146164640
NM_133642.5(LARGE1):c.1593C>T (p.Tyr531=) rs1001705325
NM_133642.5(LARGE1):c.159G>A (p.Arg53=) rs778498257
NM_133642.5(LARGE1):c.15C>T (p.Cys5=)
NM_133642.5(LARGE1):c.1600G>A (p.Val534Met) rs1428533575
NM_133642.5(LARGE1):c.1601T>C (p.Val534Ala)
NM_133642.5(LARGE1):c.1602G>A (p.Val534=)
NM_133642.5(LARGE1):c.1612G>A (p.Gly538Ser) rs768675700
NM_133642.5(LARGE1):c.1616_1620delinsG (p.Gln539fs)
NM_133642.5(LARGE1):c.1617G>A (p.Gln539=) rs2146164178
NM_133642.5(LARGE1):c.1626C>G (p.Pro542=)
NM_133642.5(LARGE1):c.1636C>T (p.Leu546=)
NM_133642.5(LARGE1):c.1638G>A (p.Leu546=)
NM_133642.5(LARGE1):c.1640G>A (p.Arg547His) rs1232298989
NM_133642.5(LARGE1):c.164C>A (p.Thr55Lys)
NM_133642.5(LARGE1):c.1656G>A (p.Lys552=) rs138573955
NM_133642.5(LARGE1):c.1656G>C (p.Lys552Asn) rs138573955
NM_133642.5(LARGE1):c.1659C>T (p.His553=)
NM_133642.5(LARGE1):c.1671del (p.Tyr558fs)
NM_133642.5(LARGE1):c.1676T>A (p.Met559Lys) rs2146163535
NM_133642.5(LARGE1):c.1683G>A (p.Leu561=) rs2146163430
NM_133642.5(LARGE1):c.1685C>T (p.Ser562Phe) rs2146163397
NM_133642.5(LARGE1):c.1699del (p.Leu567fs) rs1934564024
NM_133642.5(LARGE1):c.16A>C (p.Arg6=) rs886038552
NM_133642.5(LARGE1):c.171del (p.Ser58fs)
NM_133642.5(LARGE1):c.1728C>T (p.Leu576=)
NM_133642.5(LARGE1):c.1730+13A>G
NM_133642.5(LARGE1):c.1730+16G>A
NM_133642.5(LARGE1):c.1730+1G>A rs898695674
NM_133642.5(LARGE1):c.1730+7A>G
NM_133642.5(LARGE1):c.1730+8C>T rs201267374
NM_133642.5(LARGE1):c.1731-10C>A
NM_133642.5(LARGE1):c.1731-11C>A
NM_133642.5(LARGE1):c.1731-17C>T
NM_133642.5(LARGE1):c.1731-18C>T
NM_133642.5(LARGE1):c.1731-8_1731-7del
NM_133642.5(LARGE1):c.1731-9T>C
NM_133642.5(LARGE1):c.1743C>G (p.Ile581Met) rs747357315
NM_133642.5(LARGE1):c.1750G>A (p.Asp584Asn)
NM_133642.5(LARGE1):c.1759A>G (p.Asn587Asp) rs749685972
NM_133642.5(LARGE1):c.1761C>T (p.Asn587=)
NM_133642.5(LARGE1):c.1765A>G (p.Lys589Glu) rs1602229899
NM_133642.5(LARGE1):c.176A>T (p.Gln59Leu) rs2080769500
NM_133642.5(LARGE1):c.1770A>G (p.Lys590=)
NM_133642.5(LARGE1):c.1772C>T (p.Ala591Val)
NM_133642.5(LARGE1):c.1776G>T (p.Met592Ile) rs576967464
NM_133642.5(LARGE1):c.1788G>T (p.Ala596=) rs74550830
NM_133642.5(LARGE1):c.1802G>A (p.Arg601His) rs771376144
NM_133642.5(LARGE1):c.1808G>A (p.Arg603Gln)
NM_133642.5(LARGE1):c.1811del (p.Leu604fs) rs2145893296
NM_133642.5(LARGE1):c.1812G>A (p.Leu604=)
NM_133642.5(LARGE1):c.1818C>T (p.Phe606=)
NM_133642.5(LARGE1):c.1821C>G (p.Pro607=)
NM_133642.5(LARGE1):c.183G>A (p.Glu61=) rs2149183104
NM_133642.5(LARGE1):c.1842G>A (p.Leu614=)
NM_133642.5(LARGE1):c.1846A>T (p.Met616Leu) rs781142917
NM_133642.5(LARGE1):c.1849C>A (p.Leu617Met)
NM_133642.5(LARGE1):c.184_187del (p.Glu63fs)
NM_133642.5(LARGE1):c.1851G>A (p.Leu617=)
NM_133642.5(LARGE1):c.185G>A (p.Arg62His)
NM_133642.5(LARGE1):c.185G>T (p.Arg62Leu) rs777156706
NM_133642.5(LARGE1):c.1862C>T (p.Thr621Ile) rs1930806932
NM_133642.5(LARGE1):c.1863C>A (p.Thr621=) rs1602229376
NM_133642.5(LARGE1):c.1864C>G (p.Leu622Val)
NM_133642.5(LARGE1):c.1869C>T (p.Phe623=)
NM_133642.5(LARGE1):c.186C>G (p.Arg62=) rs535793068
NM_133642.5(LARGE1):c.186C>T (p.Arg62=)
NM_133642.5(LARGE1):c.1877+11C>G
NM_133642.5(LARGE1):c.1877+12T>C
NM_133642.5(LARGE1):c.1877+13A>G
NM_133642.5(LARGE1):c.1877+16T>C
NM_133642.5(LARGE1):c.1877+17G>A
NM_133642.5(LARGE1):c.1877+17G>C
NM_133642.5(LARGE1):c.1877+20G>A
NM_133642.5(LARGE1):c.1877+8del
NM_133642.5(LARGE1):c.1878-11G>A
NM_133642.5(LARGE1):c.1878-11GT[2]
NM_133642.5(LARGE1):c.1878-13C>T
NM_133642.5(LARGE1):c.1878-4T>A rs2145832389
NM_133642.5(LARGE1):c.1880A>C (p.Tyr627Ser)
NM_133642.5(LARGE1):c.1884C>T (p.His628=) rs78223631
NM_133642.5(LARGE1):c.188A>G (p.Glu63Gly) rs539747006
NM_133642.5(LARGE1):c.1893G>T (p.Thr631=) rs138011042
NM_133642.5(LARGE1):c.189G>A (p.Glu63=) rs1602978054
NM_133642.5(LARGE1):c.1903G>A (p.Ala635Thr) rs150325234
NM_133642.5(LARGE1):c.1905A>G (p.Ala635=) rs756255025
NM_133642.5(LARGE1):c.1914C>T (p.Asn638=)
NM_133642.5(LARGE1):c.1920C>A (p.Ala640=) rs2145831959
NM_133642.5(LARGE1):c.1927C>T (p.Arg643Trp)
NM_133642.5(LARGE1):c.1932C>G (p.Thr644=)
NM_133642.5(LARGE1):c.1940C>T (p.Thr647Met)
NM_133642.5(LARGE1):c.1947C>T (p.Tyr649=)
NM_133642.5(LARGE1):c.1948C>A (p.Arg650=)
NM_133642.5(LARGE1):c.1948C>T (p.Arg650Trp)
NM_133642.5(LARGE1):c.1956G>A (p.Glu652=)
NM_133642.5(LARGE1):c.1966G>A (p.Asp656Asn)
NM_133642.5(LARGE1):c.1976C>T (p.Pro659Leu) rs778669044
NM_133642.5(LARGE1):c.1977G>A (p.Pro659=) rs768565081
NM_133642.5(LARGE1):c.1978T>C (p.Tyr660His)
NM_133642.5(LARGE1):c.198G>A (p.Glu66=)
NM_133642.5(LARGE1):c.1991G>C (p.Arg664Thr) rs1929475941
NM_133642.5(LARGE1):c.1998C>G (p.Asp666Glu) rs144197077
NM_133642.5(LARGE1):c.1998C>T (p.Asp666=)
NM_133642.5(LARGE1):c.1999dup (p.Cys667fs)
NM_133642.5(LARGE1):c.2010C>T (p.Tyr670=)
NM_133642.5(LARGE1):c.2034C>G (p.Gly678=)
NM_133642.5(LARGE1):c.2046G>A (p.Val682=)
NM_133642.5(LARGE1):c.204C>T (p.Arg68=)
NM_133642.5(LARGE1):c.2052T>C (p.His684=)
NM_133642.5(LARGE1):c.2064G>A (p.Leu688=)
NM_133642.5(LARGE1):c.2073+12G>A rs377566674
NM_133642.5(LARGE1):c.2073+12G>T rs377566674
NM_133642.5(LARGE1):c.2073+13G>T
NM_133642.5(LARGE1):c.2073+16C>A
NM_133642.5(LARGE1):c.2073+20C>T
NM_133642.5(LARGE1):c.2074-11T>C
NM_133642.5(LARGE1):c.2074-12G>T
NM_133642.5(LARGE1):c.2074-16T>A
NM_133642.5(LARGE1):c.2074-18G>A rs1928830929
NM_133642.5(LARGE1):c.2074-18G>C
NM_133642.5(LARGE1):c.2074-18G>T
NM_133642.5(LARGE1):c.2074-3del rs2145803199
NM_133642.5(LARGE1):c.2074-4C>G
NM_133642.5(LARGE1):c.2074-7C>T
NM_133642.5(LARGE1):c.2074-8T>G rs2145803317
NM_133642.5(LARGE1):c.2078A>G (p.Tyr693Cys)
NM_133642.5(LARGE1):c.2079T>C (p.Tyr693=) rs996290544
NM_133642.5(LARGE1):c.2082_2105del (p.Glu694_Tyr702delinsAsp) rs1928816149
NM_133642.5(LARGE1):c.2091G>A (p.Val697=) rs2145802982
NM_133642.5(LARGE1):c.2097C>T (p.Pro699=)
NM_133642.5(LARGE1):c.2119C>G (p.Pro707Ala)
NM_133642.5(LARGE1):c.2130C>T (p.Pro710=)
NM_133642.5(LARGE1):c.2133C>T (p.Ser711=)
NM_133642.5(LARGE1):c.2139C>T (p.Asp713=)
NM_133642.5(LARGE1):c.2142T>C (p.Ile714=) rs1358320451
NM_133642.5(LARGE1):c.2148G>A (p.Lys716=) rs1602189714
NM_133642.5(LARGE1):c.2152C>T (p.Arg718Cys)
NM_133642.5(LARGE1):c.2153G>C (p.Arg718Pro) rs1263627262
NM_133642.5(LARGE1):c.2160C>T (p.Asn720=)
NM_133642.5(LARGE1):c.2166A>G (p.Gln722=)
NM_133642.5(LARGE1):c.216G>T (p.Val72=) rs567998643
NM_133642.5(LARGE1):c.2171G>A (p.Arg724His) rs376907568
NM_133642.5(LARGE1):c.2175C>G (p.Ile725Met) rs1928785534
NM_133642.5(LARGE1):c.2181C>G (p.Leu727=)
NM_133642.5(LARGE1):c.2190C>T (p.Leu730=)
NM_133642.5(LARGE1):c.2196A>G (p.Glu732=)
NM_133642.5(LARGE1):c.21G>A (p.Gly7=)
NM_133642.5(LARGE1):c.21G>T (p.Gly7=) rs2084726573
NM_133642.5(LARGE1):c.2206C>G (p.Gln736Glu) rs2145801430
NM_133642.5(LARGE1):c.220G>A (p.Glu74Lys) rs757062605
NM_133642.5(LARGE1):c.2212A>G (p.Met738Val) rs1928773545
NM_133642.5(LARGE1):c.2217C>G (p.Ser739=) rs1406330296
NM_133642.5(LARGE1):c.2219G>A (p.Arg740His)
NM_133642.5(LARGE1):c.2221C>T (p.Arg741Cys)
NM_133642.5(LARGE1):c.2247T>C (p.Tyr749=)
NM_133642.5(LARGE1):c.2253A>G (p.Thr751=)
NM_133642.5(LARGE1):c.2256C>A (p.Ala752=) rs114246562
NM_133642.5(LARGE1):c.225G>A (p.Glu75=)
NM_133642.5(LARGE1):c.2261ACA[1] (p.Asn755del)
NM_133642.5(LARGE1):c.2262C>T (p.Asn754=)
NM_133642.5(LARGE1):c.2271G>A (p.Ter757=)
NM_133642.5(LARGE1):c.229C>G (p.Arg77Gly)
NM_133642.5(LARGE1):c.231C>T (p.Arg77=)
NM_133642.5(LARGE1):c.234C>T (p.Ala78=)
NM_133642.5(LARGE1):c.237C>T (p.Leu79=)
NM_133642.5(LARGE1):c.241A>C (p.Arg81=)
NM_133642.5(LARGE1):c.246G>T (p.Gln82His) rs768234422
NM_133642.5(LARGE1):c.247C>T (p.Leu83Phe) rs748795300
NM_133642.5(LARGE1):c.24A>G (p.Arg8=)
NM_133642.5(LARGE1):c.251G>T (p.Ser84Ile) rs398124184
NM_133642.5(LARGE1):c.254_259dup (p.Leu85_Ala86dup) rs759978690
NM_133642.5(LARGE1):c.255G>A (p.Leu85=)
NM_133642.5(LARGE1):c.265C>T (p.Arg89Ter) rs1359437833
NM_133642.5(LARGE1):c.276C>G (p.Ser92=)
NM_133642.5(LARGE1):c.27G>A (p.Arg9=) rs2145729287
NM_133642.5(LARGE1):c.281G>A (p.Arg94His) rs754383742
NM_133642.5(LARGE1):c.283C>T (p.Arg95Ter) rs761071115
NM_133642.5(LARGE1):c.287G>A (p.Gly96Asp) rs1569341949
NM_133642.5(LARGE1):c.297C>T (p.Ser99=)
NM_133642.5(LARGE1):c.303C>T (p.Thr101=)
NM_133642.5(LARGE1):c.321C>T (p.Gly107=)
NM_133642.5(LARGE1):c.326G>C (p.Gly109Ala) rs2149181937
NM_133642.5(LARGE1):c.334G>T (p.Glu112Ter) rs146078928
NM_133642.5(LARGE1):c.336G>A (p.Glu112=) rs1555983855
NM_133642.5(LARGE1):c.336G>T (p.Glu112Asp) rs1555983855
NM_133642.5(LARGE1):c.344G>T (p.Arg115Leu) rs755087786
NM_133642.5(LARGE1):c.351C>T (p.Gly117=)
NM_133642.5(LARGE1):c.354C>T (p.Ile118=)
NM_133642.5(LARGE1):c.357G>T (p.Val119=)
NM_133642.5(LARGE1):c.366C>A (p.Asn122Lys) rs2080759268
NM_133642.5(LARGE1):c.36G>A (p.Leu12=) rs1601552169
NM_133642.5(LARGE1):c.372C>T (p.Ser124=)
NM_133642.5(LARGE1):c.374A>T (p.Glu125Val)
NM_133642.5(LARGE1):c.390G>A (p.Pro130=) rs114558328
NM_133642.5(LARGE1):c.392T>C (p.Val131Ala)
NM_133642.5(LARGE1):c.394G>A (p.Val132Met) rs913704656
NM_133642.5(LARGE1):c.405C>T (p.Cys135=)
NM_133642.5(LARGE1):c.408+17G>A
NM_133642.5(LARGE1):c.408+18C>T
NM_133642.5(LARGE1):c.408+19C>T
NM_133642.5(LARGE1):c.408+5A>G
NM_133642.5(LARGE1):c.409-15T>A
NM_133642.5(LARGE1):c.409-16C>T
NM_133642.5(LARGE1):c.420T>C (p.Val140=)
NM_133642.5(LARGE1):c.421G>A (p.Ala141Thr)
NM_133642.5(LARGE1):c.426T>C (p.Ile142=) rs745996591
NM_133642.5(LARGE1):c.438A>C (p.Gly146=)
NM_133642.5(LARGE1):c.443A>G (p.Asn148Ser)
NM_133642.5(LARGE1):c.445G>T (p.Ala149Ser)
NM_133642.5(LARGE1):c.447C>G (p.Ala149=)
NM_133642.5(LARGE1):c.45G>T (p.Ser15=)
NM_133642.5(LARGE1):c.465C>T (p.Thr155=)
NM_133642.5(LARGE1):c.468G>C (p.Leu156=)
NM_133642.5(LARGE1):c.473A>C (p.Lys158Thr)
NM_133642.5(LARGE1):c.479T>G (p.Val160Gly) rs1372134080
NM_133642.5(LARGE1):c.47T>G (p.Leu16Trp) rs2145729155
NM_133642.5(LARGE1):c.483G>A (p.Leu161=) rs987732719
NM_133642.5(LARGE1):c.483del (p.Phe162fs)
NM_133642.5(LARGE1):c.488A>G (p.His163Arg) rs2149076676
NM_133642.5(LARGE1):c.491+11C>T rs781066281
NM_133642.5(LARGE1):c.491+14C>A
NM_133642.5(LARGE1):c.491+14C>G
NM_133642.5(LARGE1):c.491+19C>G
NM_133642.5(LARGE1):c.491+19C>T
NM_133642.5(LARGE1):c.491+20T>C
NM_133642.5(LARGE1):c.491+20T>G
NM_133642.5(LARGE1):c.491+9A>G
NM_133642.5(LARGE1):c.492-14C>A rs2079201212
NM_133642.5(LARGE1):c.492-20C>T rs373205336
NM_133642.5(LARGE1):c.492-4A>G
NM_133642.5(LARGE1):c.492-5C>T
NM_133642.5(LARGE1):c.492-6C>T
NM_133642.5(LARGE1):c.493C>T (p.Arg165Trp) rs765312193
NM_133642.5(LARGE1):c.495G>T (p.Arg165=)
NM_133642.5(LARGE1):c.512A>G (p.His171Arg) rs2148979441
NM_133642.5(LARGE1):c.525C>T (p.Asp175=) rs2148979372
NM_133642.5(LARGE1):c.528C>T (p.Ser176=)
NM_133642.5(LARGE1):c.52C>T (p.Leu18Phe)
NM_133642.5(LARGE1):c.534G>A (p.Ala178=)
NM_133642.5(LARGE1):c.542T>A (p.Ile181Asn) rs2079198073
NM_133642.5(LARGE1):c.543C>T (p.Ile181=) rs1478658613
NM_133642.5(LARGE1):c.555C>G (p.Leu185=)
NM_133642.5(LARGE1):c.569T>A (p.Met190Lys) rs2079196838
NM_133642.5(LARGE1):c.573G>C (p.Val191=) rs2148979075
NM_133642.5(LARGE1):c.576C>G (p.Pro192=)
NM_133642.5(LARGE1):c.57C>T (p.Leu19=) rs1366657966
NM_133642.5(LARGE1):c.588G>A (p.Val196=)
NM_133642.5(LARGE1):c.592T>A (p.Phe198Ile) rs2148978976
NM_133642.5(LARGE1):c.594C>A (p.Phe198Leu)
NM_133642.5(LARGE1):c.599A>G (p.Asn200Ser) rs2148978936
NM_133642.5(LARGE1):c.606C>G (p.Asp202Glu) rs759394642
NM_133642.5(LARGE1):c.615+10G>A
NM_133642.5(LARGE1):c.615+12A>T
NM_133642.5(LARGE1):c.615+15G>A
NM_133642.5(LARGE1):c.615+19G>A
NM_133642.5(LARGE1):c.615+7G>A
NM_133642.5(LARGE1):c.615+7dup
NM_133642.5(LARGE1):c.616-13T>G
NM_133642.5(LARGE1):c.616-14C>A
NM_133642.5(LARGE1):c.616-18C>G
NM_133642.5(LARGE1):c.616-20C>A rs1235764173
NM_133642.5(LARGE1):c.616-20C>T
NM_133642.5(LARGE1):c.616-26CT[6]
NM_133642.5(LARGE1):c.616-4C>G
NM_133642.5(LARGE1):c.616-7T>G
NM_133642.5(LARGE1):c.620_621del (p.Glu207fs) rs2148785084
NM_133642.5(LARGE1):c.621A>C (p.Glu207Asp) rs926834717
NM_133642.5(LARGE1):c.624T>A (p.Val208=)
NM_133642.5(LARGE1):c.639T>C (p.Asn213=)
NM_133642.5(LARGE1):c.642A>G (p.Lys214=)
NM_133642.5(LARGE1):c.660T>C (p.Tyr220=)
NM_133642.5(LARGE1):c.681G>C (p.Leu227=)
NM_133642.5(LARGE1):c.684C>G (p.Thr228=)
NM_133642.5(LARGE1):c.690T>A (p.Thr230=)
NM_133642.5(LARGE1):c.690T>C (p.Thr230=) rs753562472
NM_133642.5(LARGE1):c.691C>A (p.Leu231Ile)
NM_133642.5(LARGE1):c.696T>C (p.Pro232=)
NM_133642.5(LARGE1):c.6G>A (p.Leu2=)
NM_133642.5(LARGE1):c.705G>A (p.Leu235=)
NM_133642.5(LARGE1):c.720C>T (p.Val240=)
NM_133642.5(LARGE1):c.728C>T (p.Thr243Met)
NM_133642.5(LARGE1):c.72C>T (p.Ile24=) rs727503994
NM_133642.5(LARGE1):c.731A>G (p.Asp244Gly)
NM_133642.5(LARGE1):c.73A>G (p.Thr25Ala) rs1556032013
NM_133642.5(LARGE1):c.746C>A (p.Thr249Asn) rs1256101536
NM_133642.5(LARGE1):c.750C>T (p.Asp250=)
NM_133642.5(LARGE1):c.752T>A (p.Ile251Asn) rs2077976439
NM_133642.5(LARGE1):c.756A>G (p.Ala252=)
NM_133642.5(LARGE1):c.774C>T (p.Phe258=)
NM_133642.5(LARGE1):c.780G>A (p.Lys260=)
NM_133642.5(LARGE1):c.784A>G (p.Lys262Glu)
NM_133642.5(LARGE1):c.787+11C>T
NM_133642.5(LARGE1):c.787+17C>G
NM_133642.5(LARGE1):c.787+17C>T
NM_133642.5(LARGE1):c.787+18G>A
NM_133642.5(LARGE1):c.787+20T>G
NM_133642.5(LARGE1):c.787+5T>C rs763571538
NM_133642.5(LARGE1):c.788-11G>A
NM_133642.5(LARGE1):c.788-11G>T
NM_133642.5(LARGE1):c.788-15C>T
NM_133642.5(LARGE1):c.788-17T>A rs764260251
NM_133642.5(LARGE1):c.788-17T>C
NM_133642.5(LARGE1):c.788-18A>G
NM_133642.5(LARGE1):c.788-2A>G
NM_133642.5(LARGE1):c.788-5_826del rs2147722687
NM_133642.5(LARGE1):c.788-8C>T
NM_133642.5(LARGE1):c.801G>C (p.Leu267=)
NM_133642.5(LARGE1):c.804C>A (p.Gly268=)
NM_133642.5(LARGE1):c.807G>A (p.Leu269=)
NM_133642.5(LARGE1):c.856C>T (p.Arg286Cys)
NM_133642.5(LARGE1):c.861A>G (p.Pro287=) rs1257326994
NM_133642.5(LARGE1):c.861A>T (p.Pro287=)
NM_133642.5(LARGE1):c.864G>A (p.Trp288Ter)
NM_133642.5(LARGE1):c.872T>A (p.Leu291His)
NM_133642.5(LARGE1):c.87G>A (p.Leu29=)
NM_133642.5(LARGE1):c.87G>C (p.Leu29=) rs2145728903
NM_133642.5(LARGE1):c.885C>T (p.Tyr295=) rs1601816355
NM_133642.5(LARGE1):c.892+11A>G
NM_133642.5(LARGE1):c.892+11_892+12del
NM_133642.5(LARGE1):c.892+19A>C
NM_133642.5(LARGE1):c.892+7C>A
NM_133642.5(LARGE1):c.892+8C>T
NM_133642.5(LARGE1):c.893-10T>C
NM_133642.5(LARGE1):c.893-13T>C
NM_133642.5(LARGE1):c.893-14G>A
NM_133642.5(LARGE1):c.893-15T>G
NM_133642.5(LARGE1):c.893-16C>T
NM_133642.5(LARGE1):c.893-19A>T
NM_133642.5(LARGE1):c.893-21_893-20del
NM_133642.5(LARGE1):c.893-7T>C
NM_133642.5(LARGE1):c.893-9_893-8insATCCTGTGCTGCTGCCCAGGGGTG
NM_133642.5(LARGE1):c.895G>A (p.Val299Met) rs1490201857
NM_133642.5(LARGE1):c.897G>C (p.Val299=) rs532067255
NM_133642.5(LARGE1):c.909T>G (p.Leu303=) rs563144239
NM_133642.5(LARGE1):c.912G>A (p.Leu304=)
NM_133642.5(LARGE1):c.919C>T (p.Leu307=)
NM_133642.5(LARGE1):c.922C>A (p.Arg308=)
NM_133642.5(LARGE1):c.922_923delinsAA (p.Arg308Lys) rs2147135450
NM_133642.5(LARGE1):c.924G>A (p.Arg308=) rs528836583
NM_133642.5(LARGE1):c.933A>G (p.Lys311=)
NM_133642.5(LARGE1):c.939G>A (p.Glu313=)
NM_133642.5(LARGE1):c.940C>G (p.Gln314Glu) rs559892854
NM_133642.5(LARGE1):c.941_945dup (p.Trp316fs)
NM_133642.5(LARGE1):c.942G>T (p.Gln314His) rs776701293
NM_133642.5(LARGE1):c.957C>A (p.Thr319=) rs778094231
NM_133642.5(LARGE1):c.958G>T (p.Ala320Ser) rs374774937
NM_133642.5(LARGE1):c.963G>A (p.Glu321=)
NM_133642.5(LARGE1):c.969G>T (p.Glu323Asp) rs2065251813
NM_133642.5(LARGE1):c.96del (p.Ser33fs)
NM_133642.5(LARGE1):c.972C>T (p.Leu324=)
NM_133642.5(LARGE1):c.974T>C (p.Met325Thr) rs2065251491
NM_133642.5(LARGE1):c.978C>T (p.Gly326=) rs2065251221
NM_133642.5(LARGE1):c.984C>G (p.Leu328=)
NM_133642.5(LARGE1):c.987T>C (p.Ser329=)
NM_133642.5(LARGE1):c.992C>T (p.Ser331Phe) rs267607210
NM_152490.4(B3GALNT2):c.[1438_1455dup18];[979G>A]
NM_152490.5(B3GALNT2):c.-138=
NM_152490.5(B3GALNT2):c.1009T>C (p.Leu337=)
NM_152490.5(B3GALNT2):c.1013A>G (p.Asn338Ser) rs1553343724
NM_152490.5(B3GALNT2):c.1014C>T (p.Asn338=) rs2102789767
NM_152490.5(B3GALNT2):c.1020_1021dup (p.Arg341fs) rs1276205801
NM_152490.5(B3GALNT2):c.1025+13A>T
NM_152490.5(B3GALNT2):c.1025+14A>C
NM_152490.5(B3GALNT2):c.1025+16G>T rs1005203212
NM_152490.5(B3GALNT2):c.1025+4G>C rs770371145
NM_152490.5(B3GALNT2):c.1026-13T>C
NM_152490.5(B3GALNT2):c.1026-18T>C
NM_152490.5(B3GALNT2):c.1026-5A>T
NM_152490.5(B3GALNT2):c.1026G>T (p.Trp342Cys)
NM_152490.5(B3GALNT2):c.102C>T (p.Ala34=) rs1358930332
NM_152490.5(B3GALNT2):c.1030G>A (p.Val344Met)
NM_152490.5(B3GALNT2):c.1032G>A (p.Val344=)
NM_152490.5(B3GALNT2):c.1034A>G (p.Glu345Gly)
NM_152490.5(B3GALNT2):c.1035AAC[1] (p.Thr347del) rs2102784848
NM_152490.5(B3GALNT2):c.1038A>G (p.Thr346=)
NM_152490.5(B3GALNT2):c.1039A>C (p.Thr347Pro)
NM_152490.5(B3GALNT2):c.1039dup (p.Thr347fs) rs2102784860
NM_152490.5(B3GALNT2):c.103G>A (p.Gly35Ser) rs1355670872
NM_152490.5(B3GALNT2):c.1048A>C (p.Asn350His)
NM_152490.5(B3GALNT2):c.1050T>C (p.Asn350=)
NM_152490.5(B3GALNT2):c.1051T>C (p.Leu351=)
NM_152490.5(B3GALNT2):c.1052T>G (p.Leu351Trp) rs772233739
NM_152490.5(B3GALNT2):c.1056G>A (p.Leu352=)
NM_152490.5(B3GALNT2):c.1057C>G (p.Leu353Val) rs1553342995
NM_152490.5(B3GALNT2):c.1057C>T (p.Leu353=)
NM_152490.5(B3GALNT2):c.1066_1067del (p.Thr355_Asp356insTer) rs781339765
NM_152490.5(B3GALNT2):c.1069G>C (p.Asp357His)
NM_152490.5(B3GALNT2):c.1076G>A (p.Cys359Tyr) rs1553342979
NM_152490.5(B3GALNT2):c.107C>G (p.Pro36Arg) rs1553356108
NM_152490.5(B3GALNT2):c.1081A>C (p.Ile361Leu) rs1470669806
NM_152490.5(B3GALNT2):c.1088T>G (p.Leu363Arg)
NM_152490.5(B3GALNT2):c.1099T>G (p.Phe367Val)
NM_152490.5(B3GALNT2):c.10T>C (p.Trp4Arg) rs1553356208
NM_152490.5(B3GALNT2):c.1108A>T (p.Ile370Phe) rs1553342963
NM_152490.5(B3GALNT2):c.112+10T>G rs1572574802
NM_152490.5(B3GALNT2):c.112+14G>A
NM_152490.5(B3GALNT2):c.112+9C>T rs1055699299
NM_152490.5(B3GALNT2):c.113-1376C>T rs1572560402
NM_152490.5(B3GALNT2):c.113-1439dup rs1572560624
NM_152490.5(B3GALNT2):c.113-14G>A
NM_152490.5(B3GALNT2):c.113-14_113-12del
NM_152490.5(B3GALNT2):c.113-19G>A rs2102863411
NM_152490.5(B3GALNT2):c.113-1G>C rs2102863392
NM_152490.5(B3GALNT2):c.1152-17A>G
NM_152490.5(B3GALNT2):c.1152-19A>G rs1553342808
NM_152490.5(B3GALNT2):c.1177C>G (p.Arg393Gly)
NM_152490.5(B3GALNT2):c.1177C>T (p.Arg393Ter) rs1300792331
NM_152490.5(B3GALNT2):c.1187A>G (p.Lys396Arg)
NM_152490.5(B3GALNT2):c.1188G>A (p.Lys396=) rs2102782719
NM_152490.5(B3GALNT2):c.1207C>T (p.Pro403Ser) rs1683062458
NM_152490.5(B3GALNT2):c.1209G>A (p.Pro403=)
NM_152490.5(B3GALNT2):c.1209_1257dup (p.Lys420fs)
NM_152490.5(B3GALNT2):c.1211G>C (p.Ser404Thr)
NM_152490.5(B3GALNT2):c.1217C>T (p.Ala406Val)
NM_152490.5(B3GALNT2):c.1223C>G (p.Pro408Arg)
NM_152490.5(B3GALNT2):c.1223del (p.Pro408fs) rs1553342786
NM_152490.5(B3GALNT2):c.1233A>T (p.Ala411=) rs1683061203
NM_152490.5(B3GALNT2):c.1244G>A (p.Gly415Glu)
NM_152490.5(B3GALNT2):c.1245A>T (p.Gly415=) rs1683060580
NM_152490.5(B3GALNT2):c.1255T>A (p.Ser419Thr) rs1281464527
NM_152490.5(B3GALNT2):c.1257C>T (p.Ser419=)
NM_152490.5(B3GALNT2):c.1266C>T (p.Ile422=) rs762656574
NM_152490.5(B3GALNT2):c.1275_1278delinsCCT (p.Trp425fs) rs1683058752
NM_152490.5(B3GALNT2):c.1279G>T (p.Ala427Ser) rs773466522
NM_152490.5(B3GALNT2):c.1289C>T (p.Ser430Leu)
NM_152490.5(B3GALNT2):c.1290G>A (p.Ser430=) rs1572482699
NM_152490.5(B3GALNT2):c.1293G>A (p.Gly431=)
NM_152490.5(B3GALNT2):c.1304C>A (p.Thr435Asn) rs1683057478
NM_152490.5(B3GALNT2):c.1307A>G (p.Tyr436Cys)
NM_152490.5(B3GALNT2):c.1311+15C>A rs2102782415
NM_152490.5(B3GALNT2):c.1311+1G>A rs1379052702
NM_152490.5(B3GALNT2):c.1311+9_1311+11del rs1572482653
NM_152490.5(B3GALNT2):c.1312-16T>C
NM_152490.5(B3GALNT2):c.1312-8A>G rs2102780564
NM_152490.5(B3GALNT2):c.1318G>A (p.Asp440Asn) rs1683005563
NM_152490.5(B3GALNT2):c.1337G>A (p.Trp446Ter)
NM_152490.5(B3GALNT2):c.1338G>A (p.Trp446Ter) rs2102780481
NM_152490.5(B3GALNT2):c.133C>T (p.Gln45Ter) rs1685241606
NM_152490.5(B3GALNT2):c.1366C>A (p.Gln456Lys)
NM_152490.5(B3GALNT2):c.1368+1G>C rs1479230229
NM_152490.5(B3GALNT2):c.1368+3A>G rs1558407116
NM_152490.5(B3GALNT2):c.1369-4A>G
NM_152490.5(B3GALNT2):c.1375C>T (p.Leu459=)
NM_152490.5(B3GALNT2):c.1388AGA[1] (p.Lys464del) rs2102962642
NM_152490.5(B3GALNT2):c.1394C>T (p.Thr465Ile) rs1682820322
NM_152490.5(B3GALNT2):c.1397G>A (p.Cys466Tyr) rs1572474424
NM_152490.5(B3GALNT2):c.1409T>A (p.Met470Lys)
NM_152490.5(B3GALNT2):c.1418CTC[1] (p.Pro474del) rs752758430
NM_152490.5(B3GALNT2):c.1423C>T (p.Gln475Ter) rs367543077
NM_152490.5(B3GALNT2):c.1425G>A (p.Gln475=) rs1682818290
NM_152490.5(B3GALNT2):c.1434G>T (p.Pro478=) rs754116208
NM_152490.5(B3GALNT2):c.1443G>C (p.Leu481=)
NM_152490.5(B3GALNT2):c.1453_1454del (p.Trp485fs) rs1682814778
NM_152490.5(B3GALNT2):c.1458A>G (p.Lys486=)
NM_152490.5(B3GALNT2):c.1461_1467delinsTC (p.Lys488fs)
NM_152490.5(B3GALNT2):c.1463A>G (p.Lys488Arg) rs201145660
NM_152490.5(B3GALNT2):c.1467A>G (p.Glu489=)
NM_152490.5(B3GALNT2):c.1468C>A (p.Arg490=) rs751445150
NM_152490.5(B3GALNT2):c.1468C>T (p.Arg490Trp) rs751445150
NM_152490.5(B3GALNT2):c.1469G>A (p.Arg490Gln)
NM_152490.5(B3GALNT2):c.1486C>G (p.Arg496Gly)
NM_152490.5(B3GALNT2):c.1486C>T (p.Arg496Ter) rs151155734
NM_152490.5(B3GALNT2):c.1487G>A (p.Arg496Gln) rs111541487
NM_152490.5(B3GALNT2):c.150C>T (p.His50=) rs774499951
NM_152490.5(B3GALNT2):c.155A>T (p.Asp52Val) rs777105173
NM_152490.5(B3GALNT2):c.168C>T (p.Gly56=)
NM_152490.5(B3GALNT2):c.16G>A (p.Val6Met) rs2102880612
NM_152490.5(B3GALNT2):c.177A>G (p.Ser59=) rs2102863197
NM_152490.5(B3GALNT2):c.178G>C (p.Ala60Pro)
NM_152490.5(B3GALNT2):c.181C>T (p.Arg61Cys)
NM_152490.5(B3GALNT2):c.182G>A (p.Arg61His)
NM_152490.5(B3GALNT2):c.184A>G (p.Asn62Asp) rs1352782835
NM_152490.5(B3GALNT2):c.185A>G (p.Asn62Ser)
NM_152490.5(B3GALNT2):c.192T>C (p.His64=)
NM_152490.5(B3GALNT2):c.199C>T (p.Arg67Ter) rs760816239
NM_152490.5(B3GALNT2):c.204C>T (p.Asn68=) rs1057182171
NM_152490.5(B3GALNT2):c.206T>G (p.Val69Gly)
NM_152490.5(B3GALNT2):c.210AAG[1] (p.Arg71del)
NM_152490.5(B3GALNT2):c.215G>A (p.Ser72Asn)
NM_152490.5(B3GALNT2):c.218C>G (p.Thr73Ser) rs372008334
NM_152490.5(B3GALNT2):c.219C>T (p.Thr73=)
NM_152490.5(B3GALNT2):c.220T>G (p.Trp74Gly)
NM_152490.5(B3GALNT2):c.22C>G (p.Leu8Val) rs1685731091
NM_152490.5(B3GALNT2):c.23T>G (p.Leu8Arg) rs1437958242
NM_152490.5(B3GALNT2):c.245C>G (p.Pro82Arg)
NM_152490.5(B3GALNT2):c.257A>C (p.Gln86Pro)
NM_152490.5(B3GALNT2):c.259C>G (p.Arg87Gly) rs747653180
NM_152490.5(B3GALNT2):c.259C>T (p.Arg87Cys)
NM_152490.5(B3GALNT2):c.260+11T>G rs779108946
NM_152490.5(B3GALNT2):c.260+18T>C
NM_152490.5(B3GALNT2):c.261-7C>A
NM_152490.5(B3GALNT2):c.266T>C (p.Leu89Pro)
NM_152490.5(B3GALNT2):c.268G>T (p.Val90Leu) rs371613038
NM_152490.5(B3GALNT2):c.27C>A (p.Cys9Ter) rs1685730083
NM_152490.5(B3GALNT2):c.280A>G (p.Ile94Val)
NM_152490.5(B3GALNT2):c.290A>G (p.His97Arg)
NM_152490.5(B3GALNT2):c.29C>A (p.Pro10Gln)
NM_152490.5(B3GALNT2):c.305C>G (p.Pro102Arg)
NM_152490.5(B3GALNT2):c.308_309del (p.Val103fs) rs367543070
NM_152490.5(B3GALNT2):c.30G>T (p.Pro10=)
NM_152490.5(B3GALNT2):c.310G>A (p.Glu104Lys)
NM_152490.5(B3GALNT2):c.322G>A (p.Asp108Asn) rs920430546
NM_152490.5(B3GALNT2):c.335G>A (p.Cys112Tyr)
NM_152490.5(B3GALNT2):c.339A>G (p.Lys113=) rs575352096
NM_152490.5(B3GALNT2):c.33T>G (p.Cys11Trp)
NM_152490.5(B3GALNT2):c.347A>G (p.Asn116Ser) rs1572547857
NM_152490.5(B3GALNT2):c.355A>C (p.Asn119His)
NM_152490.5(B3GALNT2):c.356A>T (p.Asn119Ile)
NM_152490.5(B3GALNT2):c.361+20G>A
NM_152490.5(B3GALNT2):c.362-10C>T
NM_152490.5(B3GALNT2):c.362-12C>G
NM_152490.5(B3GALNT2):c.362-1G>C rs2102844404
NM_152490.5(B3GALNT2):c.362-20A>G
NM_152490.5(B3GALNT2):c.362-5C>G
NM_152490.5(B3GALNT2):c.379G>A (p.Glu127Lys)
NM_152490.5(B3GALNT2):c.37C>T (p.Leu13Phe)
NM_152490.5(B3GALNT2):c.383C>T (p.Ala128Val) rs1572539209
NM_152490.5(B3GALNT2):c.40G>C (p.Gly14Arg)
NM_152490.5(B3GALNT2):c.40_57del (p.Gly14_Leu19del)
NM_152490.5(B3GALNT2):c.419C>T (p.Pro140Leu)
NM_152490.5(B3GALNT2):c.41G>C (p.Gly14Ala) rs2102880495
NM_152490.5(B3GALNT2):c.436A>C (p.Ser146Arg) rs1684704587
NM_152490.5(B3GALNT2):c.438C>T (p.Ser146=)
NM_152490.5(B3GALNT2):c.439G>A (p.Val147Met) rs143983025
NM_152490.5(B3GALNT2):c.439G>C (p.Val147Leu) rs143983025
NM_152490.5(B3GALNT2):c.458A>G (p.Tyr153Cys) rs757111780
NM_152490.5(B3GALNT2):c.458A>T (p.Tyr153Phe) rs757111780
NM_152490.5(B3GALNT2):c.460C>G (p.Pro154Ala)
NM_152490.5(B3GALNT2):c.461C>T (p.Pro154Leu)
NM_152490.5(B3GALNT2):c.46G>A (p.Ala16Thr) rs1685727749
NM_152490.5(B3GALNT2):c.475A>G (p.Ser159Gly)
NM_152490.5(B3GALNT2):c.476G>A (p.Ser159Asn)
NM_152490.5(B3GALNT2):c.479T>C (p.Leu160Pro) rs2102843967
NM_152490.5(B3GALNT2):c.519G>A (p.Arg173=)
NM_152490.5(B3GALNT2):c.51G>T (p.Leu17=)
NM_152490.5(B3GALNT2):c.51_73dup (p.Ser25fs) rs367543069
NM_152490.5(B3GALNT2):c.538T>C (p.Tyr180His) rs772253366
NM_152490.5(B3GALNT2):c.555+6C>T
NM_152490.5(B3GALNT2):c.555+7=
NM_152490.5(B3GALNT2):c.558G>A (p.Glu186=) rs2102834901
NM_152490.5(B3GALNT2):c.564C>T (p.Leu188=) rs1684490953
NM_152490.5(B3GALNT2):c.575G>T (p.Arg192Leu)
NM_152490.5(B3GALNT2):c.57C>T (p.Leu19=) rs1572574971
NM_152490.5(B3GALNT2):c.588A>G (p.Pro196=) rs773287935
NM_152490.5(B3GALNT2):c.59G>A (p.Trp20Ter) rs2102880436
NM_152490.5(B3GALNT2):c.606G>T (p.Val202=) rs2102834750
NM_152490.5(B3GALNT2):c.608A>G (p.Asn203Ser) rs1684487405
NM_152490.5(B3GALNT2):c.620A>G (p.Tyr207Cys)
NM_152490.5(B3GALNT2):c.627C>T (p.Pro209=)
NM_152490.5(B3GALNT2):c.629T>G (p.Val210Gly) rs754911016
NM_152490.5(B3GALNT2):c.636A>G (p.Gln212=)
NM_152490.5(B3GALNT2):c.63G>A (p.Leu21=) rs2102880423
NM_152490.5(B3GALNT2):c.643T>G (p.Leu215Val) rs2102834613
NM_152490.5(B3GALNT2):c.651+3A>G
NM_152490.5(B3GALNT2):c.651+5A>G
NM_152490.5(B3GALNT2):c.652-12T>C rs2102815609
NM_152490.5(B3GALNT2):c.652-18T>A
NM_152490.5(B3GALNT2):c.652-1G>C rs2102815577
NM_152490.5(B3GALNT2):c.652-2A>G rs1553347936
NM_152490.5(B3GALNT2):c.652-4A>G rs1683974448
NM_152490.5(B3GALNT2):c.658G>A (p.Glu220Lys) rs766801682
NM_152490.5(B3GALNT2):c.669C>T (p.Ile223=)
NM_152490.5(B3GALNT2):c.670G>A (p.Val224Met)
NM_152490.5(B3GALNT2):c.690C>T (p.Leu230=)
NM_152490.5(B3GALNT2):c.691C>T (p.His231Tyr) rs945312438
NM_152490.5(B3GALNT2):c.699del (p.Val234fs) rs1572513308
NM_152490.5(B3GALNT2):c.701T>C (p.Val234Ala)
NM_152490.5(B3GALNT2):c.727G>C (p.Val243Leu) rs755405777
NM_152490.5(B3GALNT2):c.72C>T (p.Arg24=)
NM_152490.5(B3GALNT2):c.730A>G (p.Asn244Asp)
NM_152490.5(B3GALNT2):c.734A>G (p.Asp245Gly) rs1683966257
NM_152490.5(B3GALNT2):c.73T>C (p.Ser25Pro) rs1685725563
NM_152490.5(B3GALNT2):c.744A>T (p.Gly248=)
NM_152490.5(B3GALNT2):c.748C>A (p.Leu250Ile) rs1683965217
NM_152490.5(B3GALNT2):c.752G>C (p.Arg251Thr)
NM_152490.5(B3GALNT2):c.753del (p.Val252fs) rs2102815215
NM_152490.5(B3GALNT2):c.755T>G (p.Val252Gly) rs367543073
NM_152490.5(B3GALNT2):c.756C>A (p.Val252=) rs765281101
NM_152490.5(B3GALNT2):c.75C>T (p.Ser25=) rs1244053981
NM_152490.5(B3GALNT2):c.762+12T>C
NM_152490.5(B3GALNT2):c.762+16_762+17dup rs555883725
NM_152490.5(B3GALNT2):c.762+17del rs555883725
NM_152490.5(B3GALNT2):c.762+8G>A rs77267353
NM_152490.5(B3GALNT2):c.762+8G>T rs77267353
NM_152490.5(B3GALNT2):c.762+9T>G
NM_152490.5(B3GALNT2):c.762+9dup rs555883725
NM_152490.5(B3GALNT2):c.763-10T>C rs747403347
NM_152490.5(B3GALNT2):c.763-1G>A rs780433836
NM_152490.5(B3GALNT2):c.763-6T>C
NM_152490.5(B3GALNT2):c.770dup (p.Ala259fs) rs1064793673
NM_152490.5(B3GALNT2):c.779T>A (p.Leu260Ter)
NM_152490.5(B3GALNT2):c.785A>C (p.His262Pro)
NM_152490.5(B3GALNT2):c.807G>A (p.Glu269=) rs1436382802
NM_152490.5(B3GALNT2):c.815C>T (p.Ala272Val) rs1558417340
NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs) rs367543075
NM_152490.5(B3GALNT2):c.835A>C (p.Ile279Leu) rs1683655820
NM_152490.5(B3GALNT2):c.839A>T (p.Gln280Leu)
NM_152490.5(B3GALNT2):c.841+1G>T
NM_152490.5(B3GALNT2):c.842-1G>C rs764784497
NM_152490.5(B3GALNT2):c.842-3T>C rs1247622470
NM_152490.5(B3GALNT2):c.842-3T>G rs1247622470
NM_152490.5(B3GALNT2):c.84C>T (p.Pro28=) rs1572574900
NM_152490.5(B3GALNT2):c.85G>T (p.Ala29Ser)
NM_152490.5(B3GALNT2):c.861C>T (p.His287=)
NM_152490.5(B3GALNT2):c.863A>G (p.Asn288Ser) rs2102790139
NM_152490.5(B3GALNT2):c.86C>A (p.Ala29Asp)
NM_152490.5(B3GALNT2):c.874C>T (p.Arg292Cys) rs1683282264
NM_152490.5(B3GALNT2):c.875G>C (p.Arg292Pro) rs367543076
NM_152490.5(B3GALNT2):c.882A>G (p.Gln294=) rs2102790078
NM_152490.5(B3GALNT2):c.886C>T (p.Leu296Phe) rs1683281659
NM_152490.5(B3GALNT2):c.895C>G (p.His299Asp) rs1007114210
NM_152490.5(B3GALNT2):c.896A>G (p.His299Arg) rs955249712
NM_152490.5(B3GALNT2):c.903dup (p.Asn302fs) rs1469279569
NM_152490.5(B3GALNT2):c.905A>G (p.Asn302Ser)
NM_152490.5(B3GALNT2):c.907C>G (p.Leu303Val)
NM_152490.5(B3GALNT2):c.91G>A (p.Ala31Thr) rs1685723778
NM_152490.5(B3GALNT2):c.922G>A (p.Ala308Thr)
NM_152490.5(B3GALNT2):c.936G>A (p.Glu312=) rs554067980
NM_152490.5(B3GALNT2):c.947dup (p.Tyr317fs)
NM_152490.5(B3GALNT2):c.94_96del (p.Ser32del) rs1169838120
NM_152490.5(B3GALNT2):c.951T>C (p.Tyr317=)
NM_152490.5(B3GALNT2):c.952GAT[1] (p.Asp319del)
NM_152490.5(B3GALNT2):c.974T>C (p.Val325Ala)
NM_152490.5(B3GALNT2):c.99G>A (p.Gly33=)
NM_153741.2(DPM3):c.104A>G (p.Gln35Arg)
NM_153741.2(DPM3):c.111C>T (p.Val37=) rs2102491788
NM_153741.2(DPM3):c.11T>C (p.Leu4Ser)
NM_153741.2(DPM3):c.124C>G (p.Pro42Ala) rs745692004
NM_153741.2(DPM3):c.176A>C (p.Tyr59Ser) rs1055439022
NM_153741.2(DPM3):c.179del (p.Arg60fs)
NM_153741.2(DPM3):c.184G>C (p.Ala62Pro) rs2102491677
NM_153741.2(DPM3):c.185C>T (p.Ala62Val) rs1553190791
NM_153741.2(DPM3):c.193C>T (p.His65Tyr)
NM_153741.2(DPM3):c.19T>C (p.Trp7Arg) rs1664705696
NM_153741.2(DPM3):c.205del (p.Asp69fs)
NM_153741.2(DPM3):c.215G>A (p.Arg72His)
NM_153741.2(DPM3):c.21G>A (p.Trp7Ter) rs1444066075
NM_153741.2(DPM3):c.21G>C (p.Trp7Cys)
NM_153741.2(DPM3):c.229C>T (p.Gln77Ter) rs2102491600
NM_153741.2(DPM3):c.244C>T (p.Arg82Ter) rs749000879
NM_153741.2(DPM3):c.254T>A (p.Leu85Ter) rs121908155
NM_153741.2(DPM3):c.254T>C (p.Leu85Ser) rs121908155
NM_153741.2(DPM3):c.257C>A (p.Ala86Asp) rs752119871
NM_153741.2(DPM3):c.27G>A (p.Trp9Ter)
NM_153741.2(DPM3):c.28G>C (p.Gly10Arg) rs367584459
NM_153741.2(DPM3):c.29G>A (p.Gly10Glu) rs2102491894
NM_153741.2(DPM3):c.39C>T (p.Ile13=)
NM_153741.2(DPM3):c.42G>A (p.Leu14=)
NM_153741.2(DPM3):c.44G>T (p.Gly15Val) rs372215837
NM_153741.2(DPM3):c.48C>T (p.Ser16=) rs753265590
NM_153741.2(DPM3):c.59C>T (p.Ala20Val)
NM_153741.2(DPM3):c.5del (p.Thr2fs)
NM_153741.2(DPM3):c.6G>A (p.Thr2=)
NM_153741.2(DPM3):c.81C>T (p.Gly27=)
NM_153741.2(DPM3):c.95T>C (p.Leu32Ser) rs959102245
NM_170707.4(LMNA):c.-142C>A rs886045358
NM_170707.4(LMNA):c.-183C>A rs886045357
NM_170707.4(LMNA):c.-5C>A rs886045362
NM_170707.4(LMNA):c.-62C>A rs886045361
NM_170707.4(LMNA):c.-88G>T rs115800510
NM_170707.4(LMNA):c.1006C>T (p.Arg336Trp) rs1237093879
NM_170707.4(LMNA):c.104T>A (p.Leu35Gln)
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) rs60458016
NM_170707.4(LMNA):c.108G>T (p.Gln36His) rs2102817523
NM_170707.4(LMNA):c.112C>T (p.Leu38Phe) rs2102817550
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu) rs61672878
NM_170707.4(LMNA):c.1139T>C (p.Leu380Ser) rs121912495
NM_170707.4(LMNA):c.113T>A (p.Leu38His) rs1558116084
NM_170707.4(LMNA):c.1147G>A (p.Glu383Lys) rs1651580090
NM_170707.4(LMNA):c.117T>G (p.Asn39Lys)
NM_170707.4(LMNA):c.1198G>A (p.Gly400Ser)
NM_170707.4(LMNA):c.1232G>A (p.Gly411Asp) rs267607647
NM_170707.4(LMNA):c.1234G>T (p.Gly412Trp) rs966050612
NM_170707.4(LMNA):c.1237G>T (p.Gly413Cys) rs766811975
NM_170707.4(LMNA):c.1286G>A (p.Ser429Asn) rs1385994420
NM_170707.4(LMNA):c.1287C>G (p.Ser429Arg) rs1651629254
NM_170707.4(LMNA):c.130G>T (p.Val44Phe) rs1057518971
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu) rs505058
NM_170707.4(LMNA):c.133T>C (p.Tyr45His) rs1649714371
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1380+1G>A rs267607552
NM_170707.4(LMNA):c.1381-2A>G rs267607600
NM_170707.4(LMNA):c.1381-6C>G rs371635492
NM_170707.4(LMNA):c.1391T>A (p.Met464Lys) rs1281896947
NM_170707.4(LMNA):c.139G>A (p.Asp47Asn) rs267607608
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu) rs11575937
NM_170707.4(LMNA):c.1453C>G (p.Pro485Ala) rs886042993
NM_170707.4(LMNA):c.145G>T (p.Val49Leu)
NM_170707.4(LMNA):c.1485G>A (p.Val495=) rs1651703234
NM_170707.4(LMNA):c.148C>T (p.Arg50Cys) rs59931416
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1564T>C (p.Cys522Arg) rs1572366516
NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg) rs57629361
NM_170707.4(LMNA):c.1608+1G>A rs267607592
NM_170707.4(LMNA):c.161C>T (p.Thr54Met) rs879253992
NM_170707.4(LMNA):c.1646_1647del (p.Val549fs) rs2102898301
NM_170707.4(LMNA):c.1655A>C (p.Asp552Ala) rs1651785654
NM_170707.4(LMNA):c.1659C>T (p.Asp553=) rs748768783
NM_170707.4(LMNA):c.168C>G (p.Asn56Lys) rs2102817952
NM_170707.4(LMNA):c.1698+124C>T rs1057516022
NM_170707.4(LMNA):c.1745G>T (p.Arg582Leu) rs57830985
NM_170707.4(LMNA):c.1873_1874delinsCC (p.Ser625Pro) rs1553266553
NM_170707.4(LMNA):c.1968+18dup rs554157057
NM_170707.4(LMNA):c.1971C>A (p.Ser657Arg) rs1023544978
NM_170707.4(LMNA):c.244G>C (p.Glu82Gln) rs59270054
NM_170707.4(LMNA):c.268A>G (p.Lys90Glu) rs1445068583
NM_170707.4(LMNA):c.272C>T (p.Thr91Ile) rs1306829976
NM_170707.4(LMNA):c.286G>T (p.Ala96Ser) rs1553262000
NM_170707.4(LMNA):c.326T>A (p.Val109Glu) rs1649740041
NM_170707.4(LMNA):c.356+12C>A rs1649747809
NM_170707.4(LMNA):c.356G>T (p.Arg119Leu) rs397517902
NM_170707.4(LMNA):c.428C>T (p.Ser143Phe) rs58912633
NM_170707.4(LMNA):c.470delinsGCTGGA (p.Thr157fs)
NM_170707.4(LMNA):c.47C>A (p.Ala16Asp) rs770799870
NM_170707.4(LMNA):c.483G>A (p.Glu161=) rs1553264647
NM_170707.4(LMNA):c.511A>G (p.Lys171Glu) rs1650991296
NM_170707.4(LMNA):c.59C>T (p.Pro20Leu) rs1553261858
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) rs61195471
NM_170707.4(LMNA):c.610C>G (p.Leu204Val) rs1553265177
NM_170707.4(LMNA):c.689A>G (p.Asp230Gly) rs773349450
NM_170707.4(LMNA):c.694G>C (p.Gly232Arg) rs267607609
NM_170707.4(LMNA):c.703C>A (p.Arg235Ser) rs201227908
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) rs121912496
NM_170707.4(LMNA):c.760G>A (p.Asp254Asn) rs1553265346
NM_170707.4(LMNA):c.762C>A (p.Asp254Glu) rs1558129629
NM_170707.4(LMNA):c.787C>A (p.Leu263Met) rs750246389
NM_170707.4(LMNA):c.796A>G (p.Thr266Ala) rs1651418246
NM_170707.4(LMNA):c.80C>T (p.Thr27Ile) rs863225270
NM_170707.4(LMNA):c.810+1G>C rs267607632
NM_170707.4(LMNA):c.812T>G (p.Leu271Arg)
NM_170707.4(LMNA):c.822del (p.Arg275fs) rs2102883169
NM_170707.4(LMNA):c.851T>C (p.Leu284Pro) rs886043260
NM_170707.4(LMNA):c.853G>T (p.Val285Leu) rs746056534
NM_170707.4(LMNA):c.878A>T (p.Gln293Leu) rs1651454980
NM_170707.4(LMNA):c.893G>T (p.Arg298Leu) rs762653476
NM_170707.4(LMNA):c.89A>C (p.Gln30Pro)
NM_170707.4(LMNA):c.91_93del (p.Glu31del) rs864309525
NM_170707.4(LMNA):c.91del (p.Glu31fs)
NM_170707.4(LMNA):c.927C>A (p.Leu309=) rs752558753
NM_170707.4(LMNA):c.937-22_937-10del rs886043199
NM_170707.4(LMNA):c.940G>A (p.Ala314Thr) rs769498020
NM_170707.4(LMNA):c.94A>G (p.Lys32Glu) rs1553261891
NM_170707.4(LMNA):c.94_96del (p.Lys32del) rs60872029
NM_170707.4(LMNA):c.95A>C (p.Lys32Thr)
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) rs267607554
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser) rs775159300
NM_173660.4(DOK7):c.[1263delC];[1263dupC]
NM_173660.5(DOK7):c.100+11C>G
NM_173660.5(DOK7):c.100+11C>T
NM_173660.5(DOK7):c.100+12G>A
NM_173660.5(DOK7):c.100+14G>C
NM_173660.5(DOK7):c.100+15C>A
NM_173660.5(DOK7):c.100+17G>A
NM_173660.5(DOK7):c.100+21_100+36del
NM_173660.5(DOK7):c.1001G>A (p.Ser334Asn) rs1467473001
NM_173660.5(DOK7):c.1001_1011dup (p.Ser338fs)
NM_173660.5(DOK7):c.1008G>C (p.Ser336=)
NM_173660.5(DOK7):c.1008G>T (p.Ser336=)
NM_173660.5(DOK7):c.1009G>A (p.Asp337Asn) rs2109418165
NM_173660.5(DOK7):c.101-12C>T
NM_173660.5(DOK7):c.101-15C>T
NM_173660.5(DOK7):c.101-17G>A
NM_173660.5(DOK7):c.101-18C>T
NM_173660.5(DOK7):c.101-20G>A
NM_173660.5(DOK7):c.101-8C>G
NM_173660.5(DOK7):c.1016G>C (p.Gly339Ala) rs1728608485
NM_173660.5(DOK7):c.1017C>A (p.Gly339=)
NM_173660.5(DOK7):c.1017C>T (p.Gly339=)
NM_173660.5(DOK7):c.1018A>G (p.Ile340Val)
NM_173660.5(DOK7):c.1021_1039dup (p.Ser347fs) rs1553850100
NM_173660.5(DOK7):c.1026T>G (p.Thr342=) rs1437244628
NM_173660.5(DOK7):c.1030A>G (p.Ser344Gly) rs2109418322
NM_173660.5(DOK7):c.1033C>T (p.His345Tyr)
NM_173660.5(DOK7):c.1034A>G (p.His345Arg) rs1577182623
NM_173660.5(DOK7):c.1035C>T (p.His345=)
NM_173660.5(DOK7):c.1037C>G (p.Ser346Cys) rs568530359
NM_173660.5(DOK7):c.1038C>A (p.Ser346=)
NM_173660.5(DOK7):c.1038C>T (p.Ser346=)
NM_173660.5(DOK7):c.1040_1041del (p.Ser347fs)
NM_173660.5(DOK7):c.1047C>T (p.Ser349=)
NM_173660.5(DOK7):c.1049G>A (p.Ser350Asn) rs1728615373
NM_173660.5(DOK7):c.1050C>G (p.Ser350Arg) rs2109418499
NM_173660.5(DOK7):c.1054C>G (p.Leu352Val) rs1037224921
NM_173660.5(DOK7):c.1059G>C (p.Ser353=)
NM_173660.5(DOK7):c.1062C>G (p.Ser354=)
NM_173660.5(DOK7):c.1066G>C (p.Ala356Pro)
NM_173660.5(DOK7):c.1067C>A (p.Ala356Glu) rs368512847
NM_173660.5(DOK7):c.1067C>T (p.Ala356Val) rs368512847
NM_173660.5(DOK7):c.1068G>A (p.Ala356=)
NM_173660.5(DOK7):c.1068G>C (p.Ala356=)
NM_173660.5(DOK7):c.1068G>T (p.Ala356=) rs372407972
NM_173660.5(DOK7):c.1074_1306dup (p.Gly436fs) rs1560232833
NM_173660.5(DOK7):c.1080G>T (p.Leu360=) rs2109418743
NM_173660.5(DOK7):c.1083C>G (p.Asp361Glu)
NM_173660.5(DOK7):c.1088G>T (p.Trp363Leu) rs763666945
NM_173660.5(DOK7):c.1091G>T (p.Arg364Leu) rs201304841
NM_173660.5(DOK7):c.1109G>C (p.Gly370Ala) rs1728624628
NM_173660.5(DOK7):c.111G>A (p.Leu37=) rs2109335875
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_173660.5(DOK7):c.1125G>C (p.Leu375=)
NM_173660.5(DOK7):c.1128A>C (p.Pro376=)
NM_173660.5(DOK7):c.1131A>G (p.Ala377=)
NM_173660.5(DOK7):c.1134G>C (p.Ala378=)
NM_173660.5(DOK7):c.1137G>A (p.Gly379=)
NM_173660.5(DOK7):c.1138dup (p.Ala380fs) rs761899995
NM_173660.5(DOK7):c.1139C>A (p.Ala380Asp) rs766061571
NM_173660.5(DOK7):c.1139C>G (p.Ala380Gly) rs766061571
NM_173660.5(DOK7):c.1139C>T (p.Ala380Val) rs766061571
NM_173660.5(DOK7):c.1140C>T (p.Ala380=)
NM_173660.5(DOK7):c.1143del (p.Glu382fs) rs606231132
NM_173660.5(DOK7):c.1143dup (p.Glu382fs) rs606231132
NM_173660.5(DOK7):c.1145A>C (p.Glu382Ala) rs1728631866
NM_173660.5(DOK7):c.1145_1171del (p.Glu382_Pro390del)
NM_173660.5(DOK7):c.1146G>A (p.Glu382=)
NM_173660.5(DOK7):c.1149C>T (p.Pro383=)
NM_173660.5(DOK7):c.1151G>A (p.Ser384Asn) rs1728632467
NM_173660.5(DOK7):c.1153_1166delinsAGGGGCCCCCGA (p.Leu385fs)
NM_173660.5(DOK7):c.1154T>C (p.Leu385Pro) rs1728632885
NM_173660.5(DOK7):c.1155G>A (p.Leu385=)
NM_173660.5(DOK7):c.1161C>G (p.Thr387=)
NM_173660.5(DOK7):c.1165C>T (p.Leu389=)
NM_173660.5(DOK7):c.1166_1169del (p.Leu389fs) rs1728633687
NM_173660.5(DOK7):c.1168C>A (p.Pro390Thr) rs149525610
NM_173660.5(DOK7):c.1168C>T (p.Pro390Ser) rs149525610
NM_173660.5(DOK7):c.1171G>T (p.Gly391Trp)
NM_173660.5(DOK7):c.1172G>A (p.Gly391Glu) rs753513427
NM_173660.5(DOK7):c.1173G>C (p.Gly391=)
NM_173660.5(DOK7):c.1176A>T (p.Thr392=)
NM_173660.5(DOK7):c.1179C>G (p.Val393=) rs138797230
NM_173660.5(DOK7):c.1179C>T (p.Val393=) rs138797230
NM_173660.5(DOK7):c.117G>A (p.Leu39=)
NM_173660.5(DOK7):c.1188G>A (p.Gln396=) rs1577183241
NM_173660.5(DOK7):c.1191G>A (p.Val397=)
NM_173660.5(DOK7):c.1194C>T (p.Pro398=)
NM_173660.5(DOK7):c.1203G>C (p.Leu401=)
NM_173660.5(DOK7):c.1205G>C (p.Arg402Pro) rs370039804
NM_173660.5(DOK7):c.1208C>G (p.Ala403Gly)
NM_173660.5(DOK7):c.1211A>G (p.His404Arg)
NM_173660.5(DOK7):c.1215T>C (p.Tyr405=)
NM_173660.5(DOK7):c.1215T>G (p.Tyr405Ter) rs544278158
NM_173660.5(DOK7):c.1218C>T (p.Asp406=)
NM_173660.5(DOK7):c.1227C>A (p.Arg409=) rs762828158
NM_173660.5(DOK7):c.1228A>C (p.Ser410Arg) rs547633164
NM_173660.5(DOK7):c.1230C>T (p.Ser410=)
NM_173660.5(DOK7):c.1236C>A (p.Cys412Ter)
NM_173660.5(DOK7):c.1236C>T (p.Cys412=) rs556834250
NM_173660.5(DOK7):c.1237C>T (p.Leu413=)
NM_173660.5(DOK7):c.1239G>A (p.Leu413=)
NM_173660.5(DOK7):c.1242T>G (p.Ala414=)
NM_173660.5(DOK7):c.1247_1250dup (p.Asp417fs)
NM_173660.5(DOK7):c.1251C>T (p.Asp417=)
NM_173660.5(DOK7):c.1255A>C (p.Ser419Arg) rs2109420373
NM_173660.5(DOK7):c.1257C>T (p.Ser419=)
NM_173660.5(DOK7):c.1257_1269del (p.Ser419fs)
NM_173660.5(DOK7):c.1258C>A (p.Pro420Thr) rs150497723
NM_173660.5(DOK7):c.1258C>T (p.Pro420Ser) rs150497723
NM_173660.5(DOK7):c.1260C>A (p.Pro420=)
NM_173660.5(DOK7):c.1262C>G (p.Pro421Arg)
NM_173660.5(DOK7):c.1262C>T (p.Pro421Leu)
NM_173660.5(DOK7):c.1263C>A (p.Pro421=) rs761693255
NM_173660.5(DOK7):c.1263C>G (p.Pro421=)
NM_173660.5(DOK7):c.1263C>T (p.Pro421=) rs761693255
NM_173660.5(DOK7):c.1263del (p.Ser422fs) rs606231129
NM_173660.5(DOK7):c.1263dup (p.Ser422fs) rs606231129
NM_173660.5(DOK7):c.1264del (p.Ser422fs) rs1258346283
NM_173660.5(DOK7):c.1267C>T (p.Gln423Ter) rs1728650830
NM_173660.5(DOK7):c.1269G>A (p.Gln423=) rs1247286969
NM_173660.5(DOK7):c.1271_1280dup (p.Asn428fs)
NM_173660.5(DOK7):c.1272C>T (p.Gly424=) rs1728651445
NM_173660.5(DOK7):c.1275C>T (p.Ser425=)
NM_173660.5(DOK7):c.1277C>T (p.Pro426Leu)
NM_173660.5(DOK7):c.1278C>G (p.Pro426=) rs139468087
NM_173660.5(DOK7):c.1279G>C (p.Gly427Arg) rs377555406
NM_173660.5(DOK7):c.1285A>G (p.Ser429Gly)
NM_173660.5(DOK7):c.1287T>C (p.Ser429=) rs1255756275
NM_173660.5(DOK7):c.1289C>G (p.Ala430Gly)
NM_173660.5(DOK7):c.1296G>A (p.Arg432=) rs1288310207
NM_173660.5(DOK7):c.1296_1311del (p.Asp433fs) rs778172294
NM_173660.5(DOK7):c.1296_1311dup (p.Thr438fs)
NM_173660.5(DOK7):c.129C>T (p.Asp43=)
NM_173660.5(DOK7):c.1305C>A (p.Gly435=) rs201894731
NM_173660.5(DOK7):c.1305C>G (p.Gly435=) rs201894731
NM_173660.5(DOK7):c.1305C>T (p.Gly435=) rs201894731
NM_173660.5(DOK7):c.1306G>A (p.Gly436Ser) rs201392182
NM_173660.5(DOK7):c.1306G>C (p.Gly436Arg) rs201392182
NM_173660.5(DOK7):c.1307G>A (p.Gly436Asp) rs1458938692
NM_173660.5(DOK7):c.1308C>T (p.Gly436=)
NM_173660.5(DOK7):c.1310_1320del (p.Gln437fs)
NM_173660.5(DOK7):c.1313C>G (p.Thr438Arg) rs376805794
NM_173660.5(DOK7):c.1313C>T (p.Thr438Met) rs376805794
NM_173660.5(DOK7):c.1317C>G (p.Ser439=)
NM_173660.5(DOK7):c.1318G>T (p.Ala440Ser) rs753026831
NM_173660.5(DOK7):c.1321G>A (p.Gly441Arg) rs778266118
NM_173660.5(DOK7):c.1323G>A (p.Gly441=) rs755615582
NM_173660.5(DOK7):c.1323del (p.Cys442fs) rs1210035894
NM_173660.5(DOK7):c.1323dup (p.Cys442fs)
NM_173660.5(DOK7):c.1324_1357del (p.Cys442fs)
NM_173660.5(DOK7):c.1327C>T (p.Pro443Ser) rs748946433
NM_173660.5(DOK7):c.1329C>G (p.Pro443=) rs768213796
NM_173660.5(DOK7):c.1329C>T (p.Pro443=)
NM_173660.5(DOK7):c.1332T>G (p.Ser444=)
NM_173660.5(DOK7):c.1335C>T (p.Gly445=)
NM_173660.5(DOK7):c.1339_1342del (p.Leu447fs)
NM_173660.5(DOK7):c.1339_1342dup (p.Gly448fs) rs606231131
NM_173660.5(DOK7):c.1340_1354del (p.Leu447_Arg451del) rs779508279
NM_173660.5(DOK7):c.1347G>C (p.Thr449=)
NM_173660.5(DOK7):c.1347G>T (p.Thr449=)
NM_173660.5(DOK7):c.1348del (p.Arg450fs)
NM_173660.5(DOK7):c.1356G>C (p.Arg452=) rs1728663876
NM_173660.5(DOK7):c.1358dup (p.Leu454fs) rs775544277
NM_173660.5(DOK7):c.1359C>T (p.Gly453=)
NM_173660.5(DOK7):c.135G>A (p.Ser45=)
NM_173660.5(DOK7):c.135G>C (p.Ser45=)
NM_173660.5(DOK7):c.1361_1374del (p.Leu454fs)
NM_173660.5(DOK7):c.1363G>A (p.Val455Met) rs765823074
NM_173660.5(DOK7):c.1367dup (p.Met456fs)
NM_173660.5(DOK7):c.1368_1385del (p.Met456_Ser462delinsIle) rs1728665309
NM_173660.5(DOK7):c.1371G>T (p.Glu457Asp) rs1455617490
NM_173660.5(DOK7):c.1372dup (p.Ala458fs)
NM_173660.5(DOK7):c.1374C>T (p.Ala458=)
NM_173660.5(DOK7):c.1378C>T (p.Gln460Ter)
NM_173660.5(DOK7):c.1378del (p.Gln460fs)
NM_173660.5(DOK7):c.1378dup (p.Gln460fs) rs606231133
NM_173660.5(DOK7):c.1380G>A (p.Gln460=)
NM_173660.5(DOK7):c.1387G>C (p.Glu463Gln) rs745941308
NM_173660.5(DOK7):c.1387G>T (p.Glu463Ter) rs745941308
NM_173660.5(DOK7):c.138_149del (p.Glu46_Gly50delinsAsp) rs1577148448
NM_173660.5(DOK7):c.1395A>G (p.Thr465=)
NM_173660.5(DOK7):c.1396C>T (p.Leu466=)
NM_173660.5(DOK7):c.139C>T (p.Arg47Cys) rs781665230
NM_173660.5(DOK7):c.1403_1408del (p.Gly468_Pro469del) rs762148551
NM_173660.5(DOK7):c.1403_1408dup (p.Gly468_Pro469dup) rs762148551
NM_173660.5(DOK7):c.1404C>A (p.Gly468=)
NM_173660.5(DOK7):c.1408_1412dup (p.Gly472fs) rs1728671600
NM_173660.5(DOK7):c.1410C>T (p.Ala470=)
NM_173660.5(DOK7):c.1416C>T (p.Gly472=) rs769793776
NM_173660.5(DOK7):c.141T>C (p.Arg47=)
NM_173660.5(DOK7):c.1428A>G (p.Glu476=)
NM_173660.5(DOK7):c.1433G>A (p.Gly478Asp) rs2109422552
NM_173660.5(DOK7):c.1435G>C (p.Gly479Arg) rs140519765
NM_173660.5(DOK7):c.143T>C (p.Ile48Thr)
NM_173660.5(DOK7):c.1440C>G (p.Pro480=)
NM_173660.5(DOK7):c.1441dup (p.His481fs) rs1168106708
NM_173660.5(DOK7):c.1444G>T (p.Ala482Ser)
NM_173660.5(DOK7):c.1445C>A (p.Ala482Glu) rs767980190
NM_173660.5(DOK7):c.1445C>T (p.Ala482Val) rs767980190
NM_173660.5(DOK7):c.1457del (p.Pro486fs) rs1577184455
NM_173660.5(DOK7):c.1458G>T (p.Pro486=) rs763843300
NM_173660.5(DOK7):c.1459G>A (p.Ala487Thr) rs751342277
NM_173660.5(DOK7):c.1459G>C (p.Ala487Pro) rs751342277
NM_173660.5(DOK7):c.1467T>C (p.Phe489=)
NM_173660.5(DOK7):c.1469C>G (p.Ser490Trp) rs77513082
NM_173660.5(DOK7):c.1470G>T (p.Ser490=)
NM_173660.5(DOK7):c.1473A>G (p.Ala491=)
NM_173660.5(DOK7):c.1476T>G (p.Cys492Trp) rs768805841
NM_173660.5(DOK7):c.1476_1485dup (p.Gly496fs) rs797045040
NM_173660.5(DOK7):c.147G>A (p.Lys49=)
NM_173660.5(DOK7):c.1482C>A (p.Val494=)
NM_173660.5(DOK7):c.1487G>C (p.Gly496Ala) rs373205256
NM_173660.5(DOK7):c.1487G>T (p.Gly496Val) rs373205256
NM_173660.5(DOK7):c.1489G>C (p.Gly497Arg) rs751223916
NM_173660.5(DOK7):c.1497G>A (p.Lys499=)
NM_173660.5(DOK7):c.1497G>T (p.Lys499Asn) rs1560234858
NM_173660.5(DOK7):c.1498G>A (p.Val500Ile) rs1041024260
NM_173660.5(DOK7):c.1503C>T (p.Asn501=)
NM_173660.5(DOK7):c.1504C>T (p.Pro502Ser) rs779975668
NM_173660.5(DOK7):c.1506C>G (p.Pro502=)
NM_173660.5(DOK7):c.1508dup (p.Pro504fs) rs773220689
NM_173660.5(DOK7):c.1510C>A (p.Pro504Thr) rs1560234920
NM_173660.5(DOK7):c.1514G>A (p.Ter505=)
NM_173660.5(DOK7):c.1515A>G (p.Ter505Trp) rs1553850437
NM_173660.5(DOK7):c.159G>A (p.Glu53=) rs1008787863
NM_173660.5(DOK7):c.161G>A (p.Arg54His) rs201818140
NM_173660.5(DOK7):c.161G>T (p.Arg54Leu) rs201818140
NM_173660.5(DOK7):c.163A>G (p.Ser55Gly) rs550137245
NM_173660.5(DOK7):c.163A>T (p.Ser55Cys) rs550137245
NM_173660.5(DOK7):c.168C>T (p.Ser56=) rs2109336068
NM_173660.5(DOK7):c.173C>T (p.Thr58Met)
NM_173660.5(DOK7):c.174G>A (p.Thr58=)
NM_173660.5(DOK7):c.176T>C (p.Leu59Pro)
NM_173660.5(DOK7):c.177A>G (p.Leu59=)
NM_173660.5(DOK7):c.185T>A (p.Ile62Asn)
NM_173660.5(DOK7):c.186C>A (p.Ile62=)
NM_173660.5(DOK7):c.190G>C (p.Gly64Arg)
NM_173660.5(DOK7):c.199C>T (p.Pro67Ser) rs1553846331
NM_173660.5(DOK7):c.210C>G (p.Pro70=)
NM_173660.5(DOK7):c.212A>T (p.Tyr71Phe) rs771583740
NM_173660.5(DOK7):c.220= (p.Leu74=) rs4325970
NM_173660.5(DOK7):c.230C>A (p.Thr77Lys) rs940346413
NM_173660.5(DOK7):c.230C>G (p.Thr77Arg)
NM_173660.5(DOK7):c.230C>T (p.Thr77Met) rs940346413
NM_173660.5(DOK7):c.231G>A (p.Thr77=)
NM_173660.5(DOK7):c.237C>T (p.Ala79=)
NM_173660.5(DOK7):c.241G>C (p.Val81Leu) rs763046127
NM_173660.5(DOK7):c.252C>A (p.Ser84=)
NM_173660.5(DOK7):c.252C>G (p.Ser84=)
NM_173660.5(DOK7):c.252C>T (p.Ser84=)
NM_173660.5(DOK7):c.264G>T (p.Met88Ile) rs1244768842
NM_173660.5(DOK7):c.27C>A (p.Gly9=) rs768798756
NM_173660.5(DOK7):c.27C>T (p.Gly9=)
NM_173660.5(DOK7):c.288C>T (p.Ala96=) rs890259305
NM_173660.5(DOK7):c.289A>G (p.Met97Val) rs2109336403
NM_173660.5(DOK7):c.28C>T (p.Gln10Ter)
NM_173660.5(DOK7):c.28del (p.Gln10fs) rs1560200925
NM_173660.5(DOK7):c.292T>A (p.Cys98Ser) rs1726898976
NM_173660.5(DOK7):c.294T>C (p.Cys98=)
NM_173660.5(DOK7):c.297G>T (p.Ala99=)
NM_173660.5(DOK7):c.298dup (p.Trp100fs)
NM_173660.5(DOK7):c.299G>A (p.Trp100Ter) rs2109336441
NM_173660.5(DOK7):c.309G>A (p.Arg103=)
NM_173660.5(DOK7):c.30G>A (p.Gln10=) rs1341926638
NM_173660.5(DOK7):c.317A>G (p.Tyr106Cys)
NM_173660.5(DOK7):c.31G>C (p.Val11Leu)
NM_173660.5(DOK7):c.324C>T (p.Leu108=)
NM_173660.5(DOK7):c.325G>A (p.Gly109Ser) rs762952740
NM_173660.5(DOK7):c.331+10G>A
NM_173660.5(DOK7):c.331+11GGGGCC[3] rs745546967
NM_173660.5(DOK7):c.331+14G>T
NM_173660.5(DOK7):c.331+15C>G
NM_173660.5(DOK7):c.331+15_331+16del
NM_173660.5(DOK7):c.331+17G>A
NM_173660.5(DOK7):c.331+18G>A
NM_173660.5(DOK7):c.331+20_331+25del
NM_173660.5(DOK7):c.331+4_331+5del rs2109336551
NM_173660.5(DOK7):c.331+7G>A
NM_173660.5(DOK7):c.332-107_332-4del rs1727060359
NM_173660.5(DOK7):c.332-12G>A
NM_173660.5(DOK7):c.332-12G>C
NM_173660.5(DOK7):c.332-15C>T
NM_173660.5(DOK7):c.332-17G>A
NM_173660.5(DOK7):c.332-18T>A
NM_173660.5(DOK7):c.332-1G>A rs1490214819
NM_173660.5(DOK7):c.332-1G>C
NM_173660.5(DOK7):c.332-1G>T rs1490214819
NM_173660.5(DOK7):c.332-2A>G
NM_173660.5(DOK7):c.332-4G>C
NM_173660.5(DOK7):c.332-7C>A
NM_173660.5(DOK7):c.332-95_332-18del
NM_173660.5(DOK7):c.332-9_332-8insTGCCCC
NM_173660.5(DOK7):c.333G>A (p.Val111=) rs1197491516
NM_173660.5(DOK7):c.336T>C (p.His112=)
NM_173660.5(DOK7):c.339G>A (p.Arg113=)
NM_173660.5(DOK7):c.355G>A (p.Ala119Thr) rs951094929
NM_173660.5(DOK7):c.363C>T (p.Gly121=) rs1427150506
NM_173660.5(DOK7):c.364A>T (p.Thr122Ser)
NM_173660.5(DOK7):c.366C>G (p.Thr122=) rs1365607498
NM_173660.5(DOK7):c.36G>A (p.Lys12=)
NM_173660.5(DOK7):c.379G>A (p.Gly127Ser)
NM_173660.5(DOK7):c.381C>T (p.Gly127=)
NM_173660.5(DOK7):c.383C>G (p.Pro128Arg)
NM_173660.5(DOK7):c.384G>A (p.Pro128=)
NM_173660.5(DOK7):c.390C>G (p.Thr130=)
NM_173660.5(DOK7):c.390C>T (p.Thr130=)
NM_173660.5(DOK7):c.394C>A (p.His132Asn) rs755692930
NM_173660.5(DOK7):c.396C>G (p.His132Gln) rs779798129
NM_173660.5(DOK7):c.399C>G (p.Leu133=)
NM_173660.5(DOK7):c.399C>T (p.Leu133=) rs2109343497
NM_173660.5(DOK7):c.411C>A (p.Val137=)
NM_173660.5(DOK7):c.414C>T (p.Leu138=)
NM_173660.5(DOK7):c.415G>C (p.Val139Leu) rs571769859
NM_173660.5(DOK7):c.429del (p.Asp143fs)
NM_173660.5(DOK7):c.42G>A (p.Arg14=)
NM_173660.5(DOK7):c.430A>T (p.Ile144Phe)
NM_173660.5(DOK7):c.435C>T (p.Pro145=)
NM_173660.5(DOK7):c.438G>A (p.Pro146=)
NM_173660.5(DOK7):c.439del (p.Ala147fs) rs1577153029
NM_173660.5(DOK7):c.43G>A (p.Asp15Asn) rs1726072530
NM_173660.5(DOK7):c.440C>T (p.Ala147Val) rs1560212754
NM_173660.5(DOK7):c.442G>T (p.Val148Phe) rs2109343658
NM_173660.5(DOK7):c.445A>G (p.Thr149Ala) rs759723884
NM_173660.5(DOK7):c.446C>T (p.Thr149Met)
NM_173660.5(DOK7):c.447G>A (p.Thr149=)
NM_173660.5(DOK7):c.450G>A (p.Gly150=)
NM_173660.5(DOK7):c.451C>T (p.Gln151Ter)
NM_173660.5(DOK7):c.457A>T (p.Lys153Ter) rs1727096342
NM_173660.5(DOK7):c.45C>T (p.Asp15=) rs759054772
NM_173660.5(DOK7):c.463_466del (p.Ser155fs)
NM_173660.5(DOK7):c.468C>T (p.Asp156=)
NM_173660.5(DOK7):c.469C>G (p.Leu157Val) rs1727097545
NM_173660.5(DOK7):c.469C>T (p.Leu157Phe)
NM_173660.5(DOK7):c.46G>C (p.Gly16Arg) rs764824461
NM_173660.5(DOK7):c.471C>T (p.Leu157=)
NM_173660.5(DOK7):c.473G>A (p.Arg158Gln)
NM_173660.5(DOK7):c.480C>A (p.Tyr160Ter) rs550024569
NM_173660.5(DOK7):c.483_484dup (p.Ala162fs) rs1577153124
NM_173660.5(DOK7):c.487G>A (p.Val163Met) rs746946329
NM_173660.5(DOK7):c.487G>C (p.Val163Leu)
NM_173660.5(DOK7):c.48C>G (p.Gly16=)
NM_173660.5(DOK7):c.493A>G (p.Ser165Gly) rs1470827824
NM_173660.5(DOK7):c.494G>A (p.Ser165Asn)
NM_173660.5(DOK7):c.496G>T (p.Gly166Ter)
NM_173660.5(DOK7):c.498A>T (p.Gly166=)
NM_173660.5(DOK7):c.501C>T (p.Phe167=) rs1374098055
NM_173660.5(DOK7):c.513C>T (p.Gly171=) rs775583136
NM_173660.5(DOK7):c.516G>T (p.Gly172=)
NM_173660.5(DOK7):c.518C>G (p.Thr173Ser)
NM_173660.5(DOK7):c.525T>G (p.Cys175Trp)
NM_173660.5(DOK7):c.532+13G>A
NM_173660.5(DOK7):c.532+15G>A
NM_173660.5(DOK7):c.532+20G>A rs2109344000
NM_173660.5(DOK7):c.532+4A>C
NM_173660.5(DOK7):c.532+8C>T
NM_173660.5(DOK7):c.533-159_641del rs2109369117
NM_173660.5(DOK7):c.533-15G>C
NM_173660.5(DOK7):c.533-16T>C
NM_173660.5(DOK7):c.533-19C>T
NM_173660.5(DOK7):c.533-2A>G
NM_173660.5(DOK7):c.533-4G>A
NM_173660.5(DOK7):c.533-6C>T rs1727716278
NM_173660.5(DOK7):c.533-8C>G
NM_173660.5(DOK7):c.533-9C>T
NM_173660.5(DOK7):c.534G>T (p.Trp178Cys) rs1727716645
NM_173660.5(DOK7):c.535G>C (p.Ala179Pro) rs756146556
NM_173660.5(DOK7):c.539G>C (p.Gly180Ala) rs118203994
NM_173660.5(DOK7):c.54+11G>A
NM_173660.5(DOK7):c.54+13C>A
NM_173660.5(DOK7):c.54+16G>A
NM_173660.5(DOK7):c.54+20G>A rs1480112817
NM_173660.5(DOK7):c.54+20del rs1726078584
NM_173660.5(DOK7):c.54+21C>G
NM_173660.5(DOK7):c.54+21C>T rs865893625
NM_173660.5(DOK7):c.54+21_54+22del
NM_173660.5(DOK7):c.54+21del rs1170595407
NM_173660.5(DOK7):c.54+22G>A rs1726079112
NM_173660.5(DOK7):c.54+22G>T rs1726079112
NM_173660.5(DOK7):c.54+22_54+23insA
NM_173660.5(DOK7):c.54+22_54+23insC
NM_173660.5(DOK7):c.54+22_54+23insT
NM_173660.5(DOK7):c.54+23G>C rs781051112
NM_173660.5(DOK7):c.54+23G>T rs781051112
NM_173660.5(DOK7):c.54+23_54+24insCG
NM_173660.5(DOK7):c.54+23_54+24insT
NM_173660.5(DOK7):c.54+24G>A
NM_173660.5(DOK7):c.54+24G>C
NM_173660.5(DOK7):c.54+24_54+25insA
NM_173660.5(DOK7):c.54+24_54+25insC
NM_173660.5(DOK7):c.54+25G>A rs769791490
NM_173660.5(DOK7):c.54+25G>C
NM_173660.5(DOK7):c.54+25G>T
NM_173660.5(DOK7):c.54+25_54+26insA
NM_173660.5(DOK7):c.54+25_54+26insC rs767285554
NM_173660.5(DOK7):c.54+25_54+26insCG rs906657133
NM_173660.5(DOK7):c.54+25_54+26insT
NM_173660.5(DOK7):c.54+25_55-38del rs769850502
NM_173660.5(DOK7):c.54+26G>A
NM_173660.5(DOK7):c.54+26G>C rs543525751
NM_173660.5(DOK7):c.54+26G>T rs543525751
NM_173660.5(DOK7):c.54+26_54+27insA
NM_173660.5(DOK7):c.54+26_54+27insAGGGG rs1553844254
NM_173660.5(DOK7):c.54+26_54+27insC
NM_173660.5(DOK7):c.54+26_54+27insT
NM_173660.5(DOK7):c.54+27G>A rs774468059
NM_173660.5(DOK7):c.54+27G>C rs774468059
NM_173660.5(DOK7):c.54+27G>T rs774468059
NM_173660.5(DOK7):c.54+27_54+28insA
NM_173660.5(DOK7):c.54+27_54+28insC rs1282356351
NM_173660.5(DOK7):c.54+27_54+28insCG
NM_173660.5(DOK7):c.54+27_54+28insT
NM_173660.5(DOK7):c.54+28G>A
NM_173660.5(DOK7):c.54+28G>C rs772575255
NM_173660.5(DOK7):c.54+28G>T rs772575255
NM_173660.5(DOK7):c.54+28_54+29insA rs777859905
NM_173660.5(DOK7):c.54+28_54+29insC
NM_173660.5(DOK7):c.54+28_54+29insCG
NM_173660.5(DOK7):c.54+28_54+29insT
NM_173660.5(DOK7):c.54+29G>A
NM_173660.5(DOK7):c.54+29G>C rs767030857
NM_173660.5(DOK7):c.54+29G>T rs767030857
NM_173660.5(DOK7):c.54+29_54+30insA
NM_173660.5(DOK7):c.54+29_54+30insC
NM_173660.5(DOK7):c.54+29_54+30insT
NM_173660.5(DOK7):c.54+30G>A rs562528761
NM_173660.5(DOK7):c.54+30G>T rs562528761
NM_173660.5(DOK7):c.54+30_54+31insA
NM_173660.5(DOK7):c.54+31G>A
NM_173660.5(DOK7):c.54+31G>C
NM_173660.5(DOK7):c.54+31GGGCGC[3]
NM_173660.5(DOK7):c.54+31_54+32insC
NM_173660.5(DOK7):c.54+31_54+32insCGCG
NM_173660.5(DOK7):c.54+31_54+33del rs71180187
NM_173660.5(DOK7):c.54+32G>T
NM_173660.5(DOK7):c.54+32_54+33del rs71180187
NM_173660.5(DOK7):c.54+32_54+33dup rs71180187
NM_173660.5(DOK7):c.54+32_54+33insCGCGG rs1485695721
NM_173660.5(DOK7):c.54+32_54+33insTG
NM_173660.5(DOK7):c.54+33G>A
NM_173660.5(DOK7):c.54+33G>C rs943989420
NM_173660.5(DOK7):c.54+33_54+34insGCGCGGG rs1553844286
NM_173660.5(DOK7):c.54+33_54+34insGGCGCGGG
NM_173660.5(DOK7):c.54+33del rs71180187
NM_173660.5(DOK7):c.54+33dup rs71180187
NM_173660.5(DOK7):c.54+34C>G
NM_173660.5(DOK7):c.54+34C>T rs751188494
NM_173660.5(DOK7):c.54+34_54+37del
NM_173660.5(DOK7):c.54+34_54+38del
NM_173660.5(DOK7):c.54+34del rs1726087779
NM_173660.5(DOK7):c.54+34dup
NM_173660.5(DOK7):c.54+36C>G
NM_173660.5(DOK7):c.54+36_54+37del rs1289091767
NM_173660.5(DOK7):c.54+38G>C
NM_173660.5(DOK7):c.54+7G>A
NM_173660.5(DOK7):c.54+8_54+17dup
NM_173660.5(DOK7):c.54+9G>A
NM_173660.5(DOK7):c.540C>T (p.Gly180=)
NM_173660.5(DOK7):c.546C>T (p.Phe182=) rs575721820
NM_173660.5(DOK7):c.548_551del (p.Phe183fs) rs606231130
NM_173660.5(DOK7):c.549C>T (p.Phe183=) rs1448680067
NM_173660.5(DOK7):c.55-12C>G
NM_173660.5(DOK7):c.55-12_55-11del
NM_173660.5(DOK7):c.55-12del rs1214849085
NM_173660.5(DOK7):c.55-13C>G rs886038744
NM_173660.5(DOK7):c.55-13C>T
NM_173660.5(DOK7):c.55-15C>G
NM_173660.5(DOK7):c.55-16C>A rs976572936
NM_173660.5(DOK7):c.55-17C>T
NM_173660.5(DOK7):c.55-18_55-17insA
NM_173660.5(DOK7):c.55-1G>T rs863223277
NM_173660.5(DOK7):c.55-38G>A
NM_173660.5(DOK7):c.55-4G>A
NM_173660.5(DOK7):c.55-8C>T rs2109312415
NM_173660.5(DOK7):c.550C>T (p.Leu184=)
NM_173660.5(DOK7):c.551T>C (p.Leu184Pro) rs1727718542
NM_173660.5(DOK7):c.558G>A (p.Ser186=)
NM_173660.5(DOK7):c.558G>T (p.Ser186=)
NM_173660.5(DOK7):c.559G>C (p.Ala187Pro) rs1220205278
NM_173660.5(DOK7):c.564G>C (p.Glu188Asp) rs375631042
NM_173660.5(DOK7):c.565G>T (p.Gly189Trp) rs1727720417
NM_173660.5(DOK7):c.570G>A (p.Glu190=) rs962876610
NM_173660.5(DOK7):c.576C>T (p.Ile192=)
NM_173660.5(DOK7):c.583C>G (p.Leu195Val)
NM_173660.5(DOK7):c.588C>G (p.Phe196Leu) rs149940009
NM_173660.5(DOK7):c.588C>T (p.Phe196=) rs149940009
NM_173660.5(DOK7):c.597C>A (p.Ile199=)
NM_173660.5(DOK7):c.600C>A (p.Val200=)
NM_173660.5(DOK7):c.601C>T (p.Arg201Ter) rs118203995
NM_173660.5(DOK7):c.603A>C (p.Arg201=)
NM_173660.5(DOK7):c.60G>A (p.Lys20=)
NM_173660.5(DOK7):c.612C>T (p.Ser204=) rs2109370734
NM_173660.5(DOK7):c.612_625delinsGGACGGTTCTA (p.Pro205_Pro209delinsAspGlySerThr) rs1553847993
NM_173660.5(DOK7):c.615C>A (p.Pro205=)
NM_173660.5(DOK7):c.615C>G (p.Pro205=) rs553239093
NM_173660.5(DOK7):c.615C>T (p.Pro205=) rs553239093
NM_173660.5(DOK7):c.618C>A (p.Thr206=)
NM_173660.5(DOK7):c.619A>C (p.Lys207Gln) rs1240579533
NM_173660.5(DOK7):c.621G>A (p.Lys207=)
NM_173660.5(DOK7):c.625C>A (p.Pro209Thr) rs759603846
NM_173660.5(DOK7):c.626C>T (p.Pro209Leu) rs902286336
NM_173660.5(DOK7):c.633G>T (p.Gly211=) rs1577165754
NM_173660.5(DOK7):c.638G>C (p.Arg213Pro) rs371408752
NM_173660.5(DOK7):c.638G>T (p.Arg213Leu) rs371408752
NM_173660.5(DOK7):c.642G>A (p.Pro214=)
NM_173660.5(DOK7):c.642G>C (p.Pro214=) rs746371931
NM_173660.5(DOK7):c.652+16T>G
NM_173660.5(DOK7):c.652+1dup rs1727731607
NM_173660.5(DOK7):c.652+20C>G
NM_173660.5(DOK7):c.652+20C>T
NM_173660.5(DOK7):c.652+4C>T rs374675986
NM_173660.5(DOK7):c.652+8T>C
NM_173660.5(DOK7):c.652+9G>A
NM_173660.5(DOK7):c.652G>A (p.Asp218Asn)
NM_173660.5(DOK7):c.653-11_653-8del
NM_173660.5(DOK7):c.653-13C>T
NM_173660.5(DOK7):c.653-18G>A
NM_173660.5(DOK7):c.653-20G>A
NM_173660.5(DOK7):c.653-20G>C
NM_173660.5(DOK7):c.653-20G>T rs185980724
NM_173660.5(DOK7):c.653-20del
NM_173660.5(DOK7):c.653-3C>T rs767745850
NM_173660.5(DOK7):c.653-4A>G rs1577171863
NM_173660.5(DOK7):c.653-5C>T
NM_173660.5(DOK7):c.654C>A (p.Asp218Glu) rs1728055459
NM_173660.5(DOK7):c.656C>G (p.Pro219Arg)
NM_173660.5(DOK7):c.657A>G (p.Pro219=)
NM_173660.5(DOK7):c.657A>T (p.Pro219=)
NM_173660.5(DOK7):c.661C>A (p.Pro221Thr) rs377167511
NM_173660.5(DOK7):c.661C>G (p.Pro221Ala)
NM_173660.5(DOK7):c.661C>T (p.Pro221Ser) rs377167511
NM_173660.5(DOK7):c.663C>T (p.Pro221=)
NM_173660.5(DOK7):c.666G>T (p.Pro222=)
NM_173660.5(DOK7):c.668dup (p.Pro224fs)
NM_173660.5(DOK7):c.66G>A (p.Arg22=) rs1726093217
NM_173660.5(DOK7):c.66_69dup (p.Leu24fs)
NM_173660.5(DOK7):c.673T>G (p.Ser225Ala)
NM_173660.5(DOK7):c.674C>A (p.Ser225Ter)
NM_173660.5(DOK7):c.678T>G (p.Thr226=)
NM_173660.5(DOK7):c.685G>A (p.Glu229Lys)
NM_173660.5(DOK7):c.686A>G (p.Glu229Gly)
NM_173660.5(DOK7):c.68G>T (p.Trp23Leu) rs2109312461
NM_173660.5(DOK7):c.690T>G (p.Arg230=) rs1577172106
NM_173660.5(DOK7):c.696C>T (p.Ala232=)
NM_173660.5(DOK7):c.699G>A (p.Gln233=)
NM_173660.5(DOK7):c.6C>T (p.Thr2=)
NM_173660.5(DOK7):c.702A>G (p.Glu234=)
NM_173660.5(DOK7):c.707T>G (p.Leu236Arg) rs2109388893
NM_173660.5(DOK7):c.708G>A (p.Leu236=)
NM_173660.5(DOK7):c.713C>T (p.Thr238Ile)
NM_173660.5(DOK7):c.714C>A (p.Thr238=)
NM_173660.5(DOK7):c.714C>T (p.Thr238=)
NM_173660.5(DOK7):c.717A>G (p.Leu239=)
NM_173660.5(DOK7):c.718C>T (p.Gln240Ter)
NM_173660.5(DOK7):c.718del (p.Gln240fs) rs2109388978
NM_173660.5(DOK7):c.720G>A (p.Gln240=)
NM_173660.5(DOK7):c.724G>C (p.Glu242Gln)
NM_173660.5(DOK7):c.725A>C (p.Glu242Ala)
NM_173660.5(DOK7):c.727A>G (p.Lys243Glu)
NM_173660.5(DOK7):c.731G>A (p.Arg244Gln)
NM_173660.5(DOK7):c.737G>C (p.Ser246Thr) rs2109389067
NM_173660.5(DOK7):c.743_746dup (p.His250fs) rs1560224831
NM_173660.5(DOK7):c.751G>A (p.Ala251Thr)
NM_173660.5(DOK7):c.752C>A (p.Ala251Glu) rs376251309
NM_173660.5(DOK7):c.752C>G (p.Ala251Gly)
NM_173660.5(DOK7):c.752_753delinsTA (p.Ala251Val) rs1577172369
NM_173660.5(DOK7):c.753G>C (p.Ala251=) rs59932476
NM_173660.5(DOK7):c.753G>T (p.Ala251=)
NM_173660.5(DOK7):c.757A>C (p.Arg253=)
NM_173660.5(DOK7):c.757_772+3del
NM_173660.5(DOK7):c.759_767del (p.Arg253_Gly255del) rs373384998
NM_173660.5(DOK7):c.761C>G (p.Pro254Arg) rs200407250
NM_173660.5(DOK7):c.761C>T (p.Pro254Leu) rs200407250
NM_173660.5(DOK7):c.762G>C (p.Pro254=)
NM_173660.5(DOK7):c.765C>T (p.Gly255=)
NM_173660.5(DOK7):c.768T>C (p.Ser256=)
NM_173660.5(DOK7):c.772+13G>A
NM_173660.5(DOK7):c.772+13dup
NM_173660.5(DOK7):c.772+14C>T rs201023802
NM_173660.5(DOK7):c.772+14del
NM_173660.5(DOK7):c.772+4G>A
NM_173660.5(DOK7):c.772+6G>C rs2109389412
NM_173660.5(DOK7):c.772+8C>G
NM_173660.5(DOK7):c.773-10T>G
NM_173660.5(DOK7):c.773-11C>T
NM_173660.5(DOK7):c.773-13T>C
NM_173660.5(DOK7):c.773-15C>G
NM_173660.5(DOK7):c.773-15C>T
NM_173660.5(DOK7):c.773-19G>T
NM_173660.5(DOK7):c.773-1G>A rs1268475752
NM_173660.5(DOK7):c.773-1G>C
NM_173660.5(DOK7):c.773-2A>C rs1229979805
NM_173660.5(DOK7):c.773-2A>T rs1229979805
NM_173660.5(DOK7):c.773-7_773-4del
NM_173660.5(DOK7):c.773-8_797del
NM_173660.5(DOK7):c.773-9C>G
NM_173660.5(DOK7):c.773-9C>T rs376190589
NM_173660.5(DOK7):c.776A>C (p.Asp259Ala)
NM_173660.5(DOK7):c.781C>G (p.Arg261Gly) rs142821143
NM_173660.5(DOK7):c.781C>T (p.Arg261Cys) rs142821143
NM_173660.5(DOK7):c.783C>G (p.Arg261=) rs1366900661
NM_173660.5(DOK7):c.789G>A (p.Leu263=)
NM_173660.5(DOK7):c.798A>G (p.Ser266=)
NM_173660.5(DOK7):c.7G>A (p.Glu3Lys) rs763233743
NM_173660.5(DOK7):c.801C>T (p.Ser267=)
NM_173660.5(DOK7):c.805G>C (p.Glu269Gln)
NM_173660.5(DOK7):c.810_811del (p.His272fs) rs778227501
NM_173660.5(DOK7):c.814C>T (p.His272Tyr) rs1226413438
NM_173660.5(DOK7):c.819G>A (p.Leu273=)
NM_173660.5(DOK7):c.821A>C (p.Asp274Ala) rs1372127333
NM_173660.5(DOK7):c.825C>G (p.Val275=)
NM_173660.5(DOK7):c.840G>C (p.Arg280=)
NM_173660.5(DOK7):c.852G>A (p.Trp284Ter)
NM_173660.5(DOK7):c.855A>G (p.Pro285=)
NM_173660.5(DOK7):c.856G>A (p.Glu286Lys) rs1577181909
NM_173660.5(DOK7):c.856G>C (p.Glu286Gln) rs1577181909
NM_173660.5(DOK7):c.858G>A (p.Glu286=)
NM_173660.5(DOK7):c.85C>G (p.Pro29Ala)
NM_173660.5(DOK7):c.861A>G (p.Gln287=)
NM_173660.5(DOK7):c.867G>A (p.Ser289=)
NM_173660.5(DOK7):c.867G>C (p.Ser289=) rs145862647
NM_173660.5(DOK7):c.867GTC[1] (p.Ser291del) rs749831515
NM_173660.5(DOK7):c.868T>G (p.Ser290Ala)
NM_173660.5(DOK7):c.869C>T (p.Ser290Leu)
NM_173660.5(DOK7):c.870G>A (p.Ser290=) rs149019681
NM_173660.5(DOK7):c.870G>C (p.Ser290=)
NM_173660.5(DOK7):c.873A>G (p.Ser291=)
NM_173660.5(DOK7):c.875C>T (p.Ala292Val) rs761676338
NM_173660.5(DOK7):c.87G>A (p.Pro29=)
NM_173660.5(DOK7):c.881C>A (p.Thr294Lys) rs151079259
NM_173660.5(DOK7):c.881C>T (p.Thr294Met)
NM_173660.5(DOK7):c.882G>C (p.Thr294=)
NM_173660.5(DOK7):c.886_887inv (p.Gln296Trp)
NM_173660.5(DOK7):c.887A>T (p.Gln296Leu) rs6811423
NM_173660.5(DOK7):c.889G>A (p.Glu297Lys) rs1728590424
NM_173660.5(DOK7):c.891G>A (p.Glu297=)
NM_173660.5(DOK7):c.893G>A (p.Gly298Glu) rs1553850025
NM_173660.5(DOK7):c.894G>T (p.Gly298=)
NM_173660.5(DOK7):c.894dup (p.Pro299fs)
NM_173660.5(DOK7):c.906A>G (p.Ala302=)
NM_173660.5(DOK7):c.909T>C (p.Ala303=)
NM_173660.5(DOK7):c.918C>G (p.Ala306=) rs141947707
NM_173660.5(DOK7):c.918C>T (p.Ala306=) rs141947707
NM_173660.5(DOK7):c.919G>C (p.Ala307Pro) rs150415034
NM_173660.5(DOK7):c.921C>G (p.Ala307=)
NM_173660.5(DOK7):c.924G>C (p.Gly308=)
NM_173660.5(DOK7):c.925del (p.Glu309fs) rs1182982672
NM_173660.5(DOK7):c.927A>G (p.Glu309=)
NM_173660.5(DOK7):c.930_933del (p.Met311fs) rs2109417343
NM_173660.5(DOK7):c.937G>A (p.Gly313Ser) rs1313698372
NM_173660.5(DOK7):c.93C>T (p.Pro31=)
NM_173660.5(DOK7):c.946A>C (p.Arg316=) rs898373845
NM_173660.5(DOK7):c.94G>C (p.Val32Leu)
NM_173660.5(DOK7):c.956C>A (p.Pro319His) rs376334067
NM_173660.5(DOK7):c.956C>G (p.Pro319Arg) rs376334067
NM_173660.5(DOK7):c.957C>T (p.Pro319=) rs777573281
NM_173660.5(DOK7):c.957del (p.Lys320fs) rs794727884
NM_173660.5(DOK7):c.957dup (p.Lys320fs) rs794727884
NM_173660.5(DOK7):c.958A>T (p.Lys320Ter)
NM_173660.5(DOK7):c.960G>A (p.Lys320=)
NM_173660.5(DOK7):c.963G>A (p.Pro321=) rs112624739
NM_173660.5(DOK7):c.963G>T (p.Pro321=)
NM_173660.5(DOK7):c.964C>T (p.Leu322=)
NM_173660.5(DOK7):c.967C>T (p.Arg323Cys) rs150728781
NM_173660.5(DOK7):c.96G>A (p.Val32=)
NM_173660.5(DOK7):c.96G>T (p.Val32=)
NM_173660.5(DOK7):c.973C>A (p.Arg325=) rs376280466
NM_173660.5(DOK7):c.978_1018del (p.Gln326fs) rs2109417797
NM_173660.5(DOK7):c.97G>A (p.Ala33Thr) rs1425852835
NM_173660.5(DOK7):c.983A>G (p.Gln328Arg) rs752168445
NM_173660.5(DOK7):c.987G>A (p.Glu329=)
NM_173660.5(DOK7):c.987G>C (p.Glu329Asp)
NM_173660.5(DOK7):c.98C>T (p.Ala33Val)
NM_173660.5(DOK7):c.993C>G (p.Gly331=)
NM_173660.5(DOK7):c.999G>A (p.Gln333=)
NR_027928.2(CHKB-CPT1B):n.772_780del rs1603443745
Single allele

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