NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)
|
rs74374973
|
0.00994
|
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)
|
rs117725825
|
0.00233
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn)
|
rs117209107
|
0.00072
|
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)
|
rs139260335
|
0.00057
|
NM_021971.4(GMPPB):c.79G>C (p.Asp27His)
|
rs142336618
|
0.00054
|
NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00034
|
NM_024301.5(FKRP):c.898G>A (p.Val300Met)
|
rs563033008
|
0.00031
|
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)
|
rs121908188
|
0.00030
|
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln)
|
rs202160208
|
0.00019
|
NM_032237.5(POMK):c.136C>T (p.Arg46Ter)
|
rs202036744
|
0.00017
|
NM_001848.3(COL6A1):c.1741-6G>A
|
rs200334019
|
0.00016
|
NM_004370.6(COL12A1):c.5893C>T (p.Arg1965Cys)
|
rs200487396
|
0.00015
|
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs)
|
rs886041302
|
0.00013
|
NM_005868.6(BET1):c.134del (p.Ala45fs)
|
rs541754296
|
0.00011
|
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)
|
rs143031195
|
0.00011
|
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00011
|
NM_000426.4(LAMA2):c.4048C>T (p.Arg1350Ter)
|
rs756854513
|
0.00010
|
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)
|
rs200198778
|
0.00010
|
NM_017739.4(POMGNT1):c.1895+1G>T
|
rs386834024
|
0.00009
|
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter)
|
rs200056620
|
0.00008
|
NM_001849.4(COL6A2):c.1970-9G>A
|
rs747900252
|
0.00008
|
NM_005198.5(CHKB):c.581G>A (p.Arg194Gln)
|
rs139818555
|
0.00008
|
NM_000426.4(LAMA2):c.1300C>T (p.Arg434Ter)
|
rs1374568851
|
0.00006
|
NM_000426.4(LAMA2):c.5260del (p.Lys1753_Val1754insTer)
|
rs794727594
|
0.00006
|
NM_001077365.2(POMT1):c.579_580del (p.Val195fs)
|
rs1032439203
|
0.00006
|
NM_001848.3(COL6A1):c.717+4A>G
|
rs762867111
|
0.00006
|
NM_002206.3(ITGA7):c.427C>T (p.Arg143Ter)
|
rs17854600
|
0.00006
|
NM_005198.5(CHKB):c.151C>T (p.Gln51Ter)
|
rs373091820
|
0.00006
|
NM_016213.5(TRIP4):c.950G>A (p.Arg317Gln)
|
rs200549601
|
0.00006
|
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln)
|
rs121908185
|
0.00006
|
NM_021971.4(GMPPB):c.859C>T (p.Arg287Trp)
|
rs142908436
|
0.00006
|
NM_058174.3(COL6A2):c.2554C>T (p.Gln852Ter)
|
rs777172978
|
0.00006
|
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del)
|
rs397515398
|
0.00005
|
NM_001849.4(COL6A2):c.1493G>A (p.Arg498His)
|
rs267606749
|
0.00005
|
NM_017739.4(POMGNT1):c.1099C>T (p.Arg367Cys)
|
rs36038536
|
0.00005
|
NM_020451.3(SELENON):c.1A>G (p.Met1Val)
|
rs121908184
|
0.00005
|
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile)
|
rs199922550
|
0.00005
|
NM_024301.5(FKRP):c.1253G>A (p.Trp418Ter)
|
rs746533953
|
0.00005
|
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter)
|
rs121913572
|
0.00004
|
NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter)
|
rs794727208
|
0.00004
|
NM_004369.4(COL6A3):c.2162C>G (p.Ser721Ter)
|
rs377632042
|
0.00004
|
NM_004369.4(COL6A3):c.8966-1G>C
|
rs767517186
|
0.00004
|
NM_004393.6(DAG1):c.220G>A (p.Val74Ile)
|
rs189360006
|
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.932G>A (p.Arg311Gln)
|
rs193919336
|
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.328C>T (p.Arg110Trp)
|
rs758759348
|
0.00004
|
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys)
|
rs543163491
|
0.00004
|
NM_024301.5(FKRP):c.899T>C (p.Val300Ala)
|
rs104894691
|
0.00004
|
NM_032237.5(POMK):c.773A>G (p.Gln258Arg)
|
rs397509386
|
0.00004
|
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.5476C>T (p.Arg1826Ter)
|
rs747349942
|
0.00003
|
NM_000426.4(LAMA2):c.939_940del (p.Cys314fs)
|
rs1209130981
|
0.00003
|
NM_001101426.4(CRPPA):c.643C>T (p.Gln215Ter)
|
rs370627877
|
0.00003
|
NM_001849.4(COL6A2):c.1461del (p.Ser488fs)
|
rs398123645
|
0.00003
|
NM_002206.3(ITGA7):c.1810C>T (p.Arg604Ter)
|
rs141365537
|
0.00003
|
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter)
|
rs398124119
|
0.00003
|
NM_013382.7(POMT2):c.1006+1G>A
|
rs533916138
|
0.00003
|
NM_013382.7(POMT2):c.551C>T (p.Thr184Met)
|
rs267606971
|
0.00003
|
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter)
|
rs386834019
|
0.00003
|
NM_020451.3(SELENON):c.1010+1G>A
|
rs908682527
|
0.00003
|
NM_021971.4(GMPPB):c.458C>T (p.Thr153Ile)
|
rs202013297
|
0.00003
|
NM_021971.4(GMPPB):c.760G>A (p.Val254Met)
|
rs875989850
|
0.00003
|
NM_032806.6(POMGNT2):c.1232_1233del (p.Gln411fs)
|
rs747569790
|
0.00003
|
NM_173660.5(DOK7):c.437C>T (p.Pro146Leu)
|
rs770987150
|
0.00003
|
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.5116C>T (p.Arg1706Ter)
|
rs758775001
|
0.00002
|
NM_000426.4(LAMA2):c.5562+5G>C
|
rs771046502
|
0.00002
|
NM_000426.4(LAMA2):c.6429+1G>T
|
rs1262029350
|
0.00002
|
NM_000426.4(LAMA2):c.7658del (p.Ser2553fs)
|
rs1293303410
|
0.00002
|
NM_001077365.2(POMT1):c.1196del (p.Leu399fs)
|
rs768144522
|
0.00002
|
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)
|
rs398124244
|
0.00002
|
NM_001077365.2(POMT1):c.1698+1G>A
|
rs763586263
|
0.00002
|
NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg)
|
rs119462983
|
0.00002
|
NM_001077365.2(POMT1):c.414del (p.Leu138_Leu139insTer)
|
rs746696167
|
0.00002
|
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)
|
rs119464998
|
0.00002
|
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)
|
rs267606814
|
0.00002
|
NM_001849.4(COL6A2):c.115+2T>C
|
rs770842374
|
0.00002
|
NM_001849.4(COL6A2):c.1496G>A (p.Gly499Glu)
|
rs886042332
|
0.00002
|
NM_001849.4(COL6A2):c.954+5G>C
|
rs750755566
|
0.00002
|
NM_002206.3(ITGA7):c.1072dup (p.Tyr358fs)
|
rs750756707
|
0.00002
|
NM_002206.3(ITGA7):c.1705C>T (p.Arg569Ter)
|
rs201217202
|
0.00002
|
NM_002206.3(ITGA7):c.445C>T (p.Arg149Ter)
|
rs757680080
|
0.00002
|
NM_004370.6(COL12A1):c.4738del (p.Ser1580fs)
|
rs1471550984
|
0.00002
|
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp)
|
rs727502855
|
0.00002
|
NM_013382.7(POMT2):c.248+5G>C
|
rs587777816
|
0.00002
|
NM_014254.3(RXYLT1):c.1016A>G (p.Tyr339Cys)
|
rs150736997
|
0.00002
|
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)
|
rs190057175
|
0.00002
|
NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter)
|
rs377215510
|
0.00002
|
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)
|
rs121908110
|
0.00002
|
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu)
|
rs770711331
|
0.00002
|
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys)
|
rs1247934219
|
0.00002
|
NM_032237.5(POMK):c.905T>A (p.Val302Asp)
|
rs199756983
|
0.00002
|
NM_032806.6(POMGNT2):c.1232del (p.Gln411fs)
|
rs755487513
|
0.00002
|
NM_032806.6(POMGNT2):c.758C>T (p.Pro253Leu)
|
rs374042455
|
0.00002
|
NM_152490.5(B3GALNT2):c.427C>T (p.Arg143Ter)
|
rs762259872
|
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.1854_1861dup (p.Leu621fs)
|
rs202247791
|
0.00001
|
NM_000426.4(LAMA2):c.2749+2dup
|
rs759144210
|
0.00001
|
NM_000426.4(LAMA2):c.2901C>A (p.Cys967Ter)
|
rs121913577
|
0.00001
|
NM_000426.4(LAMA2):c.363C>A (p.Tyr121Ter)
|
rs535635043
|
0.00001
|
NM_000426.4(LAMA2):c.396+1G>T
|
rs770617208
|
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.4645C>T (p.Arg1549Ter)
|
rs121913575
|
0.00001
|
NM_000426.4(LAMA2):c.5234+1G>A
|
rs781376927
|
0.00001
|
NM_000426.4(LAMA2):c.5914C>T (p.Gln1972Ter)
|
rs398123378
|
0.00001
|
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter)
|
rs398123383
|
0.00001
|
NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter)
|
rs762806915
|
0.00001
|
NM_000426.4(LAMA2):c.7691T>C (p.Leu2564Pro)
|
rs121913570
|
0.00001
|
NM_000426.4(LAMA2):c.8244+1G>A
|
rs749522728
|
0.00001
|
NM_001077365.2(POMT1):c.1015C>T (p.Gln339Ter)
|
rs756973046
|
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.1195_1196del (p.Leu399fs)
|
rs1564364615
|
0.00001
|
NM_001077365.2(POMT1):c.1255C>T (p.Gln419Ter)
|
rs745509085
|
0.00001
|
NM_001077365.2(POMT1):c.130G>A (p.Glu44Lys)
|
rs1397478363
|
0.00001
|
NM_001077365.2(POMT1):c.1391G>C (p.Trp464Ser)
|
rs746849558
|
0.00001
|
NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter)
|
rs119462985
|
0.00001
|
NM_001077365.2(POMT1):c.1792C>T (p.Arg598Ter)
|
rs761848742
|
0.00001
|
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr)
|
rs119462987
|
0.00001
|
NM_001077365.2(POMT1):c.280+1G>T
|
rs746823238
|
0.00001
|
NM_001077365.2(POMT1):c.313C>T (p.Arg105Cys)
|
rs1289335417
|
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.699+62del
|
rs1356791510
|
0.00001
|
NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter)
|
rs119462981
|
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.1129_1130del (p.Met377fs)
|
rs1554761402
|
0.00001
|
NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter)
|
rs119463990
|
0.00001
|
NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter)
|
rs119463991
|
0.00001
|
NM_001079802.2(FKTN):c.42del (p.Thr14_Leu15insTer)
|
rs1309132512
|
0.00001
|
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)
|
rs746763506
|
0.00001
|
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln)
|
rs119463992
|
0.00001
|
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg)
|
rs186882839
|
0.00001
|
NM_001101426.4(CRPPA):c.550C>T (p.Arg184Ter)
|
rs370499190
|
0.00001
|
NM_001101426.4(CRPPA):c.677A>G (p.Tyr226Cys)
|
rs1289931198
|
0.00001
|
NM_001848.3(COL6A1):c.244C>T (p.Arg82Ter)
|
rs1422385556
|
0.00001
|
NM_001849.4(COL6A2):c.1402C>T (p.Arg468Ter)
|
rs374669775
|
0.00001
|
NM_001849.4(COL6A2):c.1615C>T (p.Arg539Ter)
|
rs749593004
|
0.00001
|
NM_001849.4(COL6A2):c.1870G>A (p.Glu624Lys)
|
rs387906607
|
0.00001
|
NM_001849.4(COL6A2):c.2099G>A (p.Gly700Asp)
|
rs2078657536
|
0.00001
|
NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg)
|
rs886042922
|
0.00001
|
NM_001849.4(COL6A2):c.2611G>A (p.Asp871Asn)
|
rs387906610
|
0.00001
|
NM_001849.4(COL6A2):c.2851_2852del (p.Val951fs)
|
rs762385362
|
0.00001
|
NM_002206.3(ITGA7):c.2098C>T (p.Gln700Ter)
|
rs147648235
|
0.00001
|
NM_002206.3(ITGA7):c.2392C>T (p.Arg798Ter)
|
rs755438542
|
0.00001
|
NM_002206.3(ITGA7):c.247C>T (p.Gln83Ter)
|
rs1055839662
|
0.00001
|
NM_002206.3(ITGA7):c.3040C>T (p.Arg1014Ter)
|
rs377510220
|
0.00001
|
NM_004369.4(COL6A3):c.1825C>T (p.Arg609Ter)
|
rs755382829
|
0.00001
|
NM_004369.4(COL6A3):c.2362C>T (p.Gln788Ter)
|
rs948586287
|
0.00001
|
NM_004369.4(COL6A3):c.4366C>T (p.Arg1456Ter)
|
rs781043870
|
0.00001
|
NM_004369.4(COL6A3):c.5950C>T (p.Arg1984Ter)
|
rs771941724
|
0.00001
|
NM_004369.4(COL6A3):c.6604C>T (p.Arg2202Ter)
|
rs774115247
|
0.00001
|
NM_004369.4(COL6A3):c.7502G>A (p.Arg2501His)
|
rs541928674
|
0.00001
|
NM_004369.4(COL6A3):c.76C>T (p.Gln26Ter)
|
rs763187844
|
0.00001
|
NM_004370.6(COL12A1):c.3901C>T (p.Arg1301Ter)
|
rs1304140510
|
0.00001
|
NM_005198.5(CHKB):c.1031+3G>C
|
rs751176079
|
0.00001
|
NM_005868.6(BET1):c.152T>G (p.Ile51Ser)
|
rs372513869
|
0.00001
|
NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser)
|
rs267606970
|
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.1417C>T (p.Arg473Ter)
|
rs368817785
|
0.00001
|
NM_013382.7(POMT2):c.1762C>T (p.Arg588Ter)
|
rs766169193
|
0.00001
|
NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter)
|
rs119463989
|
0.00001
|
NM_013382.7(POMT2):c.248+1G>C
|
rs961440747
|
0.00001
|
NM_013382.7(POMT2):c.593T>A (p.Ile198Asn)
|
rs267606972
|
0.00001
|
NM_013382.7(POMT2):c.639C>A (p.Tyr213Ter)
|
rs764878423
|
0.00001
|
NM_013382.7(POMT2):c.958C>T (p.Gln320Ter)
|
rs775932206
|
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.429-2A>G
|
rs199605239
|
0.00001
|
NM_014254.3(RXYLT1):c.795del (p.Arg266fs)
|
rs397514543
|
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.1325G>A (p.Arg442His)
|
rs150877512
|
0.00001
|
NM_017739.4(POMGNT1):c.1489C>T (p.Arg497Ter)
|
rs745343484
|
0.00001
|
NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter)
|
rs386834018
|
0.00001
|
NM_017739.4(POMGNT1):c.187C>T (p.Arg63Ter)
|
rs193919337
|
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.458C>G (p.Ser153Ter)
|
rs1048865247
|
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.751+1G>A
|
rs1247668825
|
0.00001
|
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter)
|
rs386834039
|
0.00001
|
NM_020451.3(SELENON):c.1209dup (p.Lys404fs)
|
rs745715484
|
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.1396C>T (p.Arg466Trp)
|
rs752156505
|
0.00001
|
NM_020451.3(SELENON):c.1405C>T (p.Arg469Trp)
|
rs756927098
|
0.00001
|
NM_020451.3(SELENON):c.1469G>A (p.Trp490Ter)
|
rs960468382
|
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.446_447del (p.Pro149fs)
|
rs1192828749
|
0.00001
|
NM_020451.3(SELENON):c.481C>T (p.Arg161Ter)
|
rs778603129
|
0.00001
|
NM_020451.3(SELENON):c.565C>T (p.Arg189Ter)
|
rs775713184
|
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_021971.4(GMPPB):c.1070G>A (p.Arg357His)
|
rs771861177
|
0.00001
|
NM_021971.4(GMPPB):c.294dup (p.Glu99Ter)
|
rs1365085828
|
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.553C>T (p.Arg185Cys)
|
rs397509425
|
0.00001
|
NM_021971.4(GMPPB):c.95C>T (p.Pro32Leu)
|
rs397509426
|
0.00001
|
NM_024301.5(FKRP):c.1012G>C (p.Val338Leu)
|
rs1173430388
|
0.00001
|
NM_024301.5(FKRP):c.1269_1270insT (p.Asn424Ter)
|
rs772950604
|
0.00001
|
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)
|
rs104894681
|
0.00001
|
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser)
|
rs768606230
|
0.00001
|
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr)
|
rs1301397800
|
0.00001
|
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg)
|
rs104894682
|
0.00001
|
NM_024301.5(FKRP):c.313C>T (p.Gln105Ter)
|
rs761821795
|
0.00001
|
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn)
|
rs104894692
|
0.00001
|
NM_024301.5(FKRP):c.947C>G (p.Pro316Arg)
|
rs752582904
|
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_032237.5(POMK):c.10C>T (p.Gln4Ter)
|
rs202006335
|
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.907C>T (p.Arg303Ter)
|
rs528307346
|
0.00001
|
NM_032806.6(POMGNT2):c.473G>A (p.Arg158His)
|
rs387907300
|
0.00001
|
NM_032806.6(POMGNT2):c.494T>C (p.Met165Thr)
|
rs1559414655
|
0.00001
|
NM_032806.6(POMGNT2):c.509del (p.Asp170fs)
|
rs2089847365
|
0.00001
|
NM_032806.6(POMGNT2):c.511G>A (p.Asp171Asn)
|
rs768063378
|
0.00001
|
NM_032806.6(POMGNT2):c.590G>A (p.Trp197Ter)
|
rs752069645
|
0.00001
|
NM_133642.5(LARGE1):c.1483T>C (p.Trp495Arg)
|
rs267607209
|
0.00001
|
NM_133642.5(LARGE1):c.1525G>A (p.Glu509Lys)
|
rs121908675
|
0.00001
|
NM_152490.5(B3GALNT2):c.1368+1G>A
|
rs1479230229
|
0.00001
|
NM_152490.5(B3GALNT2):c.448C>T (p.Arg150Ter)
|
rs1282726649
|
0.00001
|
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu)
|
rs367543072
|
0.00001
|
NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met)
|
rs367543074
|
0.00001
|
NM_153741.2(DPM3):c.129_130del (p.Tyr44fs)
|
rs1557794919
|
0.00001
|
NM_153741.2(DPM3):c.41T>C (p.Leu14Pro)
|
rs778481307
|
0.00001
|
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)
|
rs267607555
|
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.1579C>T (p.Arg527Cys)
|
rs57318642
|
0.00001
|
NM_173660.5(DOK7):c.1061C>T (p.Ser354Phe)
|
rs756015202
|
0.00001
|
NM_173660.5(DOK7):c.331+1G>T
|
rs1349476281
|
0.00001
|
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg)
|
rs758131044
|
0.00001
|
NM_173660.5(DOK7):c.514G>A (p.Gly172Arg)
|
rs768892432
|
0.00001
|
NM_173660.5(DOK7):c.596del (p.Ile199fs)
|
rs797045528
|
0.00001
|
GRCh37/hg19 22q12.3(chr22:34152899-34236578)
|
|
|
GRCh38/hg38 21q22.3(chr21:46111353-46119948)x1
|
|
|
LARGE1, GLN87FS
|
|
|
NC_000001.10:g.(?_235616382)_(235643485_?)del
|
|
|
NC_000001.10:g.(?_235628933)_(235629051_?)del
|
|
|
NC_000001.10:g.(?_25870190)_(26142209_?)del
|
|
|
NC_000001.10:g.(?_46654381)_(46656466_?)del
|
|
|
NC_000001.10:g.(?_46655193)_(46661449_?)del
|
|
|
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.(?_235465599)_(235465734_?)del
|
|
|
NC_000001.11:g.(?_46190463)_(46190794_?)del
|
|
|
NC_000002.11:g.(?_236403331)_(242801596_?)del
|
|
|
NC_000002.11:g.(?_237481970)_(238305470_?)del
|
|
|
NC_000002.12:g.(?_237358501)_(237361194_?)del
|
|
|
NC_000002.12:g.237345214del
|
|
|
NC_000003.11:g.(?_43121181)_(43122923_?)del
|
|
|
NC_000004.11:g.(?_3465103)_(3465298_?)del
|
|
|
NC_000004.11:g.(?_3494466)_(3495228_?)del
|
|
|
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)_(75912518_?)del
|
|
|
NC_000006.11:g.(?_75833026)_(75912508_?)del
|
|
|
NC_000006.11:g.(?_75855798)_(75861023_?)del
|
|
|
NC_000006.12:g.128960376_129175759del
|
|
|
NC_000007.13:g.(?_16131310)_(16255832_?)del
|
|
|
NC_000007.13:g.(?_16131320)_(16255842_?)del
|
|
|
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.(?_16348128)_(16445982_?)del
|
|
|
NC_000007.13:g.(?_16415697)_(16460947_?)del
|
|
|
NC_000007.13:g.(?_16445666)_(16445982_?)del
|
|
|
NC_000007.13:g.(?_16460671)_(16460947_?)del
|
|
|
NC_000007.14:g.(?_16091675)_(16216217_?)del
|
|
|
NC_000007.14:g.(?_16216046)_(16376261_?)del
|
|
|
NC_000007.14:g.(?_16258370)_(16259032_?)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.(?_16406061)_(16406337_?)del
|
|
|
NC_000008.11:g.(?_43103539)_(43103840_?)del
|
|
|
NC_000009.11:g.(?_108320401)_(108337428_?)del
|
|
|
NC_000009.11:g.(?_108335926)_(108403409_?)del
|
|
|
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.(?_108377549)_(108382383_?)del
|
|
|
NC_000009.11:g.(?_130216807)_(130953136_?)del
|
|
|
NC_000009.12:g.(?_105546358)_(105620061_?)del
|
|
|
NC_000009.12:g.(?_105575023)_(105575147_?)del
|
|
|
NC_000009.12:g.(?_105606576)_(105641128_?)del
|
|
|
NC_000009.12:g.105604215del
|
|
|
NC_000012.11:g.(?_56091458)_(56093230_?)del
|
|
|
NC_000012.12:g.(?_55697675)_(55698937_?)del
|
|
|
NC_000014.8:g.(?_77755085)_(77762636_?)del
|
|
|
NC_000019.10:g.(?_46755431)_(46756958_?)del
|
|
|
NC_000019.9:g.(?_47255735)_(47259270_?)del
|
|
|
NC_000019.9:g.(?_47255735)_47259271del
|
|
|
NC_000019.9:g.(?_47258698)_(47260205_?)del
|
|
|
NC_000021.8:g.(?_47407403)_(47407578_?)del
|
|
|
NC_000021.8:g.(?_47408988)_(47410346_?)del
|
|
|
NC_000021.8:g.(?_47422287)_(47423978_?)del
|
|
|
NC_000021.8:g.(?_47529674)_(47540994_?)del
|
|
|
NC_000021.8:g.(?_47529674)_47540994del
|
|
|
NC_000021.8:g.(?_47533070)_47584395del
|
|
|
NC_000021.8:g.(?_47536737)_(47537399_?)del
|
|
|
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)_(46121133_?)del
|
|
|
NC_000021.9:g.(?_46111477)_(46121123_?)del
|
|
|
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.(?_33559508)_(33673261_?)del
|
|
|
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.(?_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.(?_50885571)_(51021210_?)del
|
|
|
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)_(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.[2049_2050delAG];[523G>T]
|
|
|
NM_000426.3(LAMA2):c.[2461A>C;8282T>C]
|
|
|
NM_000426.4(LAMA2):c.1122del (p.Gly376fs)
|
rs1338860420
|
|
NM_000426.4(LAMA2):c.1255del (p.Ile419fs)
|
rs1185229314
|
|
NM_000426.4(LAMA2):c.1263del (p.Ser421_Leu422insTer)
|
rs1779702214
|
|
NM_000426.4(LAMA2):c.1282_1283dup (p.Asp429fs)
|
rs2114993311
|
|
NM_000426.4(LAMA2):c.1306+2T>G
|
rs1326401124
|
|
NM_000426.4(LAMA2):c.1307-2A>G
|
|
|
NM_000426.4(LAMA2):c.1490_1491del (p.Asp496_Cys497insTer)
|
|
|
NM_000426.4(LAMA2):c.1522C>T (p.Gln508Ter)
|
|
|
NM_000426.4(LAMA2):c.1823_1824del (p.Ser607_Tyr608insTer)
|
|
|
NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs)
|
rs746844753
|
|
NM_000426.4(LAMA2):c.1976C>A (p.Ser659Ter)
|
|
|
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)
|
rs202247790
|
|
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.2350dup (p.Tyr784fs)
|
rs1554260284
|
|
NM_000426.4(LAMA2):c.2556del (p.Phe852fs)
|
rs750731624
|
|
NM_000426.4(LAMA2):c.2718del (p.Phe906fs)
|
|
|
NM_000426.4(LAMA2):c.2749+1G>A
|
rs759555791
|
|
NM_000426.4(LAMA2):c.2834del (p.Gly945fs)
|
rs2114432671
|
|
NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter)
|
rs398123371
|
|
NM_000426.4(LAMA2):c.3037+1G>T
|
rs1773291512
|
|
NM_000426.4(LAMA2):c.3186C>A (p.Cys1062Ter)
|
rs1774316033
|
|
NM_000426.4(LAMA2):c.3329del (p.Leu1110fs)
|
rs1583470073
|
|
NM_000426.4(LAMA2):c.3562_3563del (p.Leu1188fs)
|
rs1583475938
|
|
NM_000426.4(LAMA2):c.3630del (p.Ile1210fs)
|
rs398123372
|
|
NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter)
|
rs121913569
|
|
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.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.4058+1G>A
|
rs2114503272
|
|
NM_000426.4(LAMA2):c.4198C>T (p.Arg1400Ter)
|
rs775112258
|
|
NM_000426.4(LAMA2):c.437C>T (p.Ser146Phe)
|
rs143680577
|
|
NM_000426.4(LAMA2):c.442del (p.Arg148fs)
|
|
|
NM_000426.4(LAMA2):c.442dup (p.Arg148fs)
|
rs1775302275
|
|
NM_000426.4(LAMA2):c.4446del (p.Ser1483fs)
|
|
|
NM_000426.4(LAMA2):c.4524-2A>T
|
rs1554278541
|
|
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.4739dup (p.Leu1581fs)
|
rs1392196900
|
|
NM_000426.4(LAMA2):c.4861del (p.His1621fs)
|
|
|
NM_000426.4(LAMA2):c.4886dup (p.Glu1630fs)
|
|
|
NM_000426.4(LAMA2):c.4936G>T (p.Glu1646Ter)
|
rs748541803
|
|
NM_000426.4(LAMA2):c.4959+1del
|
rs1583591577
|
|
NM_000426.4(LAMA2):c.498G>A (p.Trp166Ter)
|
rs553221833
|
|
NM_000426.4(LAMA2):c.5156_5159del (p.Lys1719fs)
|
rs1554286963
|
|
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.5290dup (p.Glu1764fs)
|
rs1415944134
|
|
NM_000426.4(LAMA2):c.5374G>T (p.Glu1792Ter)
|
rs746201268
|
|
NM_000426.4(LAMA2):c.6196A>T (p.Lys2066Ter)
|
rs1583756552
|
|
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.6636_6637del (p.Gly2213fs)
|
|
|
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter)
|
rs121913576
|
|
NM_000426.4(LAMA2):c.7279_7280del (p.Leu2427fs)
|
rs398123385
|
|
NM_000426.4(LAMA2):c.7452-1G>A
|
rs1554304931
|
|
NM_000426.4(LAMA2):c.7490_7493dup (p.Asp2498fs)
|
rs1480934961
|
|
NM_000426.4(LAMA2):c.7630del (p.Ile2544fs)
|
rs1784335277
|
|
NM_000426.4(LAMA2):c.7750-1713_7899-2153del
|
|
|
NM_000426.4(LAMA2):c.7778del (p.Gly2593fs)
|
rs2114848887
|
|
NM_000426.4(LAMA2):c.7810C>T (p.Arg2604Ter)
|
rs766920075
|
|
NM_000426.4(LAMA2):c.7888C>T (p.Arg2630Ter)
|
rs727502851
|
|
NM_000426.4(LAMA2):c.7898+1G>A
|
rs1784599832
|
|
NM_000426.4(LAMA2):c.7991del (p.Gly2664fs)
|
rs886039541
|
|
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.825del (p.Tyr276fs)
|
rs1562275792
|
|
NM_000426.4(LAMA2):c.8265del (p.Glu2756fs)
|
|
|
NM_000426.4(LAMA2):c.8380_8383del (p.Arg2794fs)
|
rs2114890786
|
|
NM_000426.4(LAMA2):c.8613dup (p.Ser2872fs)
|
rs2114900655
|
|
NM_000426.4(LAMA2):c.8665G>A (p.Gly2889Arg)
|
rs886039896
|
|
NM_000426.4(LAMA2):c.8714_8715insGTGACG (p.Ser2905delinsArgTer)
|
rs2114910650
|
|
NM_000426.4(LAMA2):c.908dup (p.Asn303fs)
|
rs2114964219
|
|
NM_000426.4(LAMA2):c.9253C>T (p.Arg3085Ter)
|
rs121913571
|
|
NM_000426.4:c.(6992+1_6993-1)_(7300+1_7301-1)del
|
|
|
NM_001077365.2(POMT1):c.1000C>T (p.Arg334Ter)
|
|
|
NM_001077365.2(POMT1):c.1038del (p.Phe347fs)
|
|
|
NM_001077365.2(POMT1):c.1061G>A (p.Trp354Ter)
|
|
|
NM_001077365.2(POMT1):c.1091del (p.Leu364fs)
|
rs1947522752
|
|
NM_001077365.2(POMT1):c.1093_1094insGGAGCACGGTGTGGAACGTGGG (p.Val365fs)
|
rs2131707009
|
|
NM_001077365.2(POMT1):c.1136_1137dup (p.Gln380fs)
|
|
|
NM_001077365.2(POMT1):c.1175+3del
|
rs2131708682
|
|
NM_001077365.2(POMT1):c.1175+4_1175+7del
|
rs1588409344
|
|
NM_001077365.2(POMT1):c.1182dup (p.Val395fs)
|
|
|
NM_001077365.2(POMT1):c.1194_1196del (p.Leu399del)
|
rs587777818
|
|
NM_001077365.2(POMT1):c.1195dup (p.Leu399fs)
|
|
|
NM_001077365.2(POMT1):c.1204dup (p.His402fs)
|
rs2131749139
|
|
NM_001077365.2(POMT1):c.1211dup (p.Glu405fs)
|
|
|
NM_001077365.2(POMT1):c.1235dup (p.Tyr412Ter)
|
|
|
NM_001077365.2(POMT1):c.1272+1G>A
|
rs2131751359
|
|
NM_001077365.2(POMT1):c.1284_1285del (p.Asn428fs)
|
|
|
NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter)
|
rs1554780670
|
|
NM_001077365.2(POMT1):c.1364del (p.Lys455fs)
|
rs1472946513
|
|
NM_001077365.2(POMT1):c.1417G>C (p.Gly473Arg)
|
rs376882399
|
|
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.1477_1486del (p.Tyr493fs)
|
|
|
NM_001077365.2(POMT1):c.1478dup (p.Tyr493Ter)
|
rs727502854
|
|
NM_001077365.2(POMT1):c.1524dup (p.Pro509fs)
|
|
|
NM_001077365.2(POMT1):c.160_161insTTTTTTTTTTTTTTTNNNNNNNNNNTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGTACATCTCTTTTT (p.Tyr54delinsPhePhePhePhePheXaaXaaXaaXaaHisArgPheSerArgAspGlyLeuAspLeuLeuThrSerTer)
|
rs2131588122
|
|
NM_001077365.2(POMT1):c.162C>A (p.Tyr54Ter)
|
|
|
NM_001077365.2(POMT1):c.1657del (p.Leu553fs)
|
rs794727190
|
|
NM_001077365.2(POMT1):c.1667del (p.Asn556fs)
|
|
|
NM_001077365.2(POMT1):c.1671del (p.Ile557fs)
|
rs1949626483
|
|
NM_001077365.2(POMT1):c.1680G>C (p.Trp560Cys)
|
rs119462984
|
|
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.1724_1725del (p.Ile575fs)
|
|
|
NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del)
|
rs750195040
|
|
NM_001077365.2(POMT1):c.1837_1852dup (p.Gly618fs)
|
rs1315540509
|
|
NM_001077365.2(POMT1):c.1847_1865dup (p.Gly624fs)
|
|
|
NM_001077365.2(POMT1):c.1871_1872del (p.Gly624fs)
|
|
|
NM_001077365.2(POMT1):c.1917_1918del (p.Phe640fs)
|
|
|
NM_001077365.2(POMT1):c.1921C>T (p.Leu641Phe)
|
rs777437871
|
|
NM_001077365.2(POMT1):c.1951C>T (p.Gln651Ter)
|
|
|
NM_001077365.2(POMT1):c.1977del (p.Gln660fs)
|
|
|
NM_001077365.2(POMT1):c.2040_2050del (p.Val681fs)
|
rs1950265792
|
|
NM_001077365.2(POMT1):c.2044dup (p.Ala682fs)
|
rs587777817
|
|
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter)
|
rs138902646
|
|
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)
|
rs398124245
|
|
NM_001077365.2(POMT1):c.2113_2114del (p.Ser705fs)
|
rs587777819
|
|
NM_001077365.2(POMT1):c.2113_2119del (p.Ser705fs)
|
|
|
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.226G>A (p.Gly76Arg)
|
rs28941782
|
|
NM_001077365.2(POMT1):c.245del (p.Phe82fs)
|
|
|
NM_001077365.2(POMT1):c.260dup (p.Leu87fs)
|
|
|
NM_001077365.2(POMT1):c.264G>A (p.Trp88Ter)
|
rs1945827957
|
|
NM_001077365.2(POMT1):c.270_280delAATTGGAGCAG (p.Gly92fs)
|
rs1222795311
|
|
NM_001077365.2(POMT1):c.291del (p.Ser97fs)
|
|
|
NM_001077365.2(POMT1):c.385del (p.Ser129fs)
|
|
|
NM_001077365.2(POMT1):c.418_420del (p.Met140del)
|
rs587777820
|
|
NM_001077365.2(POMT1):c.427+1G>A
|
rs760071332
|
|
NM_001077365.2(POMT1):c.427+1_427+2insA
|
rs900762841
|
|
NM_001077365.2(POMT1):c.427G>A (p.Glu143Lys)
|
|
|
NM_001077365.2(POMT1):c.430A>G (p.Asn144Asp)
|
rs397514501
|
|
NM_001077365.2(POMT1):c.432del (p.Asn144fs)
|
|
|
NM_001077365.2(POMT1):c.443C>A (p.Thr148Asn)
|
rs1564341846
|
|
NM_001077365.2(POMT1):c.485del (p.Phe162fs)
|
rs1250351189
|
|
NM_001077365.2(POMT1):c.529C>T (p.Gln177Ter)
|
|
|
NM_001077365.2(POMT1):c.558G>A (p.Trp186Ter)
|
rs772370177
|
|
NM_001077365.2(POMT1):c.559del (p.Trp187fs)
|
|
|
NM_001077365.2(POMT1):c.58dup (p.Val20fs)
|
rs2131554631
|
|
NM_001077365.2(POMT1):c.605+1G>C
|
rs766648827
|
|
NM_001077365.2(POMT1):c.606del (p.Ile203fs)
|
rs1588375386
|
|
NM_001077365.2(POMT1):c.633C>G (p.Tyr211Ter)
|
rs747129906
|
|
NM_001077365.2(POMT1):c.699+24C>A
|
|
|
NM_001077365.2(POMT1):c.720del (p.Leu240fs)
|
|
|
NM_001077365.2(POMT1):c.727C>T (p.Arg243Ter)
|
rs398124247
|
|
NM_001077365.2(POMT1):c.72del (p.Met25fs)
|
rs2131554917
|
|
NM_001077365.2(POMT1):c.789_790del (p.Leu263fs)
|
|
|
NM_001077365.2(POMT1):c.7G>T (p.Gly3Ter)
|
|
|
NM_001077365.2(POMT1):c.859_871del (p.Gly287fs)
|
rs2131672013
|
|
NM_001077365.2(POMT1):c.91del (p.Leu31fs)
|
|
|
NM_001077365.2(POMT1):c.93del (p.Trp32fs)
|
|
|
NM_001077365.2(POMT1):c.972_973insCT (p.Thr325fs)
|
|
|
NM_001077365.2(POMT1):c.978C>A (p.Tyr326Ter)
|
rs1588391612
|
|
NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter)
|
rs765230689
|
|
NM_001079802.1(FKTN):c.657dup (p.Gln220Thrfs)
|
rs1554754678
|
|
NM_001079802.2(FKTN):c.*5374_*5846del
|
|
|
NM_001079802.2(FKTN):c.1022del (p.Pro341fs)
|
rs2133163213
|
|
NM_001079802.2(FKTN):c.107dup (p.Asn36fs)
|
|
|
NM_001079802.2(FKTN):c.1099del (p.Val367fs)
|
rs1554761310
|
|
NM_001079802.2(FKTN):c.109G>T (p.Gly37Ter)
|
rs773884973
|
|
NM_001079802.2(FKTN):c.1106del (p.Phe369fs)
|
rs750176716
|
|
NM_001079802.2(FKTN):c.1117G>T (p.Glu373Ter)
|
|
|
NM_001079802.2(FKTN):c.1153A>T (p.Lys385Ter)
|
rs1588222602
|
|
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+1G>A
|
rs1554761462
|
|
NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs)
|
rs1588315166
|
|
NM_001079802.2(FKTN):c.1264_1286del (p.Asn422fs)
|
rs1554766898
|
|
NM_001079802.2(FKTN):c.1317_1318dup (p.Pro440fs)
|
rs886042778
|
|
NM_001079802.2(FKTN):c.1363del (p.Asp455fs)
|
rs587777814
|
|
NM_001079802.2(FKTN):c.164G>A (p.Trp55Ter)
|
|
|
NM_001079802.2(FKTN):c.165G>A (p.Trp55Ter)
|
|
|
NM_001079802.2(FKTN):c.180dup (p.Phe61fs)
|
rs2132704748
|
|
NM_001079802.2(FKTN):c.187_188del (p.Met63fs)
|
rs587777813
|
|
NM_001079802.2(FKTN):c.256_257del (p.Asn86fs)
|
|
|
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.360G>A (p.Trp120Ter)
|
rs1564284467
|
|
NM_001079802.2(FKTN):c.367G>T (p.Glu123Ter)
|
rs1376019203
|
|
NM_001079802.2(FKTN):c.395del (p.Asn132fs)
|
rs2132791309
|
|
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.411C>A (p.Cys137Ter)
|
rs537001725
|
|
NM_001079802.2(FKTN):c.420_432dup (p.Pro145Ter)
|
rs2132792659
|
|
NM_001079802.2(FKTN):c.429del (p.Asp144fs)
|
rs1057516258
|
|
NM_001079802.2(FKTN):c.432del (p.Arg146fs)
|
rs1588110929
|
|
NM_001079802.2(FKTN):c.454dup (p.Ser152fs)
|
rs587777748
|
|
NM_001079802.2(FKTN):c.456_457del (p.Ser154fs)
|
rs760731888
|
|
NM_001079802.2(FKTN):c.473dup (p.Leu160fs)
|
|
|
NM_001079802.2(FKTN):c.479del (p.Leu160fs)
|
|
|
NM_001079802.2(FKTN):c.509C>A (p.Ala170Glu)
|
rs119464997
|
|
NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser)
|
rs119463996
|
|
NM_001079802.2(FKTN):c.528dup (p.His177fs)
|
rs1588112379
|
|
NM_001079802.2(FKTN):c.567_568delinsTT (p.Leu189_Arg190delinsPheTer)
|
rs2132800044
|
|
NM_001079802.2(FKTN):c.585dup (p.Asp196Ter)
|
rs2132800552
|
|
NM_001079802.2(FKTN):c.626_627dup (p.Tyr210fs)
|
|
|
NM_001079802.2(FKTN):c.630T>A (p.Tyr210Ter)
|
|
|
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)
|
rs398123557
|
|
NM_001079802.2(FKTN):c.648-1243G>T
|
rs1554754182
|
|
NM_001079802.2(FKTN):c.658C>T (p.Gln220Ter)
|
rs754081311
|
|
NM_001079802.2(FKTN):c.745G>T (p.Glu249Ter)
|
|
|
NM_001079802.2(FKTN):c.756T>A (p.Tyr252Ter)
|
rs1564301594
|
|
NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter)
|
rs377417974
|
|
NM_001079802.2(FKTN):c.78C>G (p.Tyr26Ter)
|
rs369797361
|
|
NM_001079802.2(FKTN):c.803_804del (p.Val268fs)
|
|
|
NM_001079802.2(FKTN):c.82_83insGT (p.Tyr28fs)
|
|
|
NM_001079802.2(FKTN):c.844C>T (p.Gln282Ter)
|
|
|
NM_001079802.2(FKTN):c.868A>T (p.Lys290Ter)
|
rs1438288380
|
|
NM_001079802.2(FKTN):c.910+1G>C
|
|
|
NM_001079802.2(FKTN):c.914G>A (p.Trp305Ter)
|
rs2133160637
|
|
NM_001079802.2(FKTN):c.93T>A (p.Tyr31Ter)
|
rs2132018294
|
|
NM_001079802.2(FKTN):c.942T>G (p.Tyr314Ter)
|
rs970907026
|
|
NM_001079802.2(FKTN):c.979_985dup (p.Ser329fs)
|
|
|
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.1092C>A (p.Cys364Ter)
|
|
|
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del)
|
rs587777798
|
|
NM_001101426.4(CRPPA):c.1120-1G>T
|
rs397515396
|
|
NM_001101426.4(CRPPA):c.1137dup (p.Lys380Ter)
|
|
|
NM_001101426.4(CRPPA):c.1186G>T (p.Glu396Ter)
|
rs886042554
|
|
NM_001101426.4(CRPPA):c.1198G>T (p.Glu400Ter)
|
rs1453431411
|
|
NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter)
|
rs1202301143
|
|
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.17_24dup (p.Ala9fs)
|
|
|
NM_001101426.4(CRPPA):c.184del (p.Val62fs)
|
rs1048457038
|
|
NM_001101426.4(CRPPA):c.256A>T (p.Arg86Ter)
|
rs397514548
|
|
NM_001101426.4(CRPPA):c.258-2A>G
|
|
|
NM_001101426.4(CRPPA):c.337C>T (p.Gln113Ter)
|
|
|
NM_001101426.4(CRPPA):c.364G>C (p.Ala122Pro)
|
rs387907162
|
|
NM_001101426.4(CRPPA):c.466G>A (p.Asp156Asn)
|
rs397514547
|
|
NM_001101426.4(CRPPA):c.52dup (p.Leu18fs)
|
rs2128321527
|
|
NM_001101426.4(CRPPA):c.534+1del
|
|
|
NM_001101426.4(CRPPA):c.54_55delinsTGC (p.Ser19fs)
|
rs2128321525
|
|
NM_001101426.4(CRPPA):c.638T>G (p.Met213Arg)
|
rs397515408
|
|
NM_001101426.4(CRPPA):c.647C>A (p.Ala216Asp)
|
rs387907160
|
|
NM_001101426.4(CRPPA):c.6_13dup (p.Pro5fs)
|
|
|
NM_001101426.4(CRPPA):c.704_705del (p.Glu235fs)
|
rs781097746
|
|
NM_001101426.4(CRPPA):c.713C>T (p.Thr238Ile)
|
rs397515409
|
|
NM_001101426.4(CRPPA):c.722del (p.Leu241fs)
|
rs1554320168
|
|
NM_001101426.4(CRPPA):c.773C>A (p.Ser258Ter)
|
rs1466219701
|
|
NM_001101426.4(CRPPA):c.789+2T>G
|
rs397515397
|
|
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.832A>T (p.Lys278Ter)
|
rs387907161
|
|
NM_001101426.4(CRPPA):c.874_886del (p.Glu292fs)
|
rs1554305719
|
|
NM_001101426.4(CRPPA):c.896del (p.Gly299fs)
|
|
|
NM_001243766.2(POMGNT1):c.-50-671_-50-663dup
|
rs966546165
|
|
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.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.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+5G>A
|
rs886044511
|
|
NM_001848.3(COL6A1):c.130_133dup (p.Ser45fs)
|
rs2077714727
|
|
NM_001848.3(COL6A1):c.1318G>T (p.Gly440Ter)
|
rs2123475539
|
|
NM_001848.3(COL6A1):c.1425del (p.Gly476fs)
|
rs878854398
|
|
NM_001848.3(COL6A1):c.1465del (p.Ala489fs)
|
rs797044458
|
|
NM_001848.3(COL6A1):c.148del (p.Ala49_Leu50insTer)
|
rs1556423728
|
|
NM_001848.3(COL6A1):c.1577G>T (p.Gly526Val)
|
rs121912934
|
|
NM_001848.3(COL6A1):c.1591del (p.Arg531fs)
|
rs2077819120
|
|
NM_001848.3(COL6A1):c.1641_1642del (p.Asp548fs)
|
rs1569518771
|
|
NM_001848.3(COL6A1):c.1724dup (p.Pro576fs)
|
rs2077824006
|
|
NM_001848.3(COL6A1):c.1738del (p.Gln580fs)
|
rs2123484530
|
|
NM_001848.3(COL6A1):c.1867_1868del (p.Ser623fs)
|
rs2123488904
|
|
NM_001848.3(COL6A1):c.1868C>G (p.Ser623Ter)
|
|
|
NM_001848.3(COL6A1):c.1977C>G (p.Tyr659Ter)
|
rs121912937
|
|
NM_001848.3(COL6A1):c.234C>A (p.Tyr78Ter)
|
|
|
NM_001848.3(COL6A1):c.2431_2434+36del
|
rs759918870
|
|
NM_001848.3(COL6A1):c.2460C>A (p.Cys820Ter)
|
rs2077858751
|
|
NM_001848.3(COL6A1):c.2551_2562del (p.Phe851_Arg854del)
|
|
|
NM_001848.3(COL6A1):c.310_311del (p.Thr104fs)
|
|
|
NM_001848.3(COL6A1):c.310dup (p.Thr104fs)
|
|
|
NM_001848.3(COL6A1):c.362A>G (p.Lys121Arg)
|
rs121912936
|
|
NM_001848.3(COL6A1):c.428+1G>A
|
rs1569517717
|
|
NM_001848.3(COL6A1):c.50_51del (p.Thr17fs)
|
rs747419878
|
|
NM_001848.3(COL6A1):c.554_555del (p.Lys185fs)
|
rs1377090546
|
|
NM_001848.3(COL6A1):c.56_69dup (p.Glu24fs)
|
rs1603589162
|
|
NM_001848.3(COL6A1):c.58C>T (p.Gln20Ter)
|
rs1603589167
|
|
NM_001848.3(COL6A1):c.739-2A>G
|
rs2123467538
|
|
NM_001848.3(COL6A1):c.751G>T (p.Glu251Ter)
|
|
|
NM_001848.3(COL6A1):c.782_789del (p.Leu261fs)
|
rs886043354
|
|
NM_001848.3(COL6A1):c.788G>A (p.Gly263Asp)
|
rs886043351
|
|
NM_001848.3(COL6A1):c.804+1G>A
|
rs1385646650
|
|
NM_001848.3(COL6A1):c.805-2A>C
|
rs398123639
|
|
NM_001848.3(COL6A1):c.805-2A>G
|
rs398123639
|
|
NM_001848.3(COL6A1):c.806G>A (p.Gly269Glu)
|
rs2077759104
|
|
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.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.841G>A (p.Gly281Arg)
|
rs267606746
|
|
NM_001848.3(COL6A1):c.842G>A (p.Gly281Glu)
|
rs886041383
|
|
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg)
|
rs121912938
|
|
NM_001848.3(COL6A1):c.857del (p.Pro286fs)
|
rs797044457
|
|
NM_001848.3(COL6A1):c.859-2A>G
|
|
|
NM_001848.3(COL6A1):c.859G>A (p.Gly287Arg)
|
rs1057521152
|
|
NM_001848.3(COL6A1):c.860G>A (p.Gly287Glu)
|
rs2077761954
|
|
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.883_903+27delinsCAGGACCTCGGACCTGAGG
|
|
|
NM_001848.3(COL6A1):c.887G>T (p.Gly296Val)
|
rs1603590649
|
|
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+1G>T
|
rs1569518119
|
|
NM_001848.3(COL6A1):c.903+2_903+10del
|
|
|
NM_001848.3(COL6A1):c.904-39A>G
|
rs1569518138
|
|
NM_001848.3(COL6A1):c.905G>A (p.Gly302Glu)
|
rs1556425566
|
|
NM_001848.3(COL6A1):c.914G>A (p.Gly305Glu)
|
rs886042684
|
|
NM_001848.3(COL6A1):c.928_930del (p.Lys310del)
|
rs886043114
|
|
NM_001848.3(COL6A1):c.930+189C>T
|
rs1556425596
|
|
NM_001848.3(COL6A1):c.930+1G>A
|
rs886042902
|
|
NM_001848.3(COL6A1):c.931-1G>A
|
rs886042354
|
|
NM_001848.3(COL6A1):c.931-1G>C
|
rs886042354
|
|
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.956A>G (p.Lys319Arg)
|
rs794727059
|
|
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.957G>A (p.Lys319=)
|
rs1057520625
|
|
NM_001848.3(COL6A1):c.958-2A>G
|
rs1556425717
|
|
NM_001848.3(COL6A1):c.958-2_958-1del
|
rs2123472064
|
|
NM_001849.3(COL6A2):c.2312dup (p.Asn771Lysfs)
|
rs886043164
|
|
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.101_104del (p.Asn34fs)
|
rs2123612919
|
|
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.1059del (p.Asp354fs)
|
rs1555873508
|
|
NM_001849.4(COL6A2):c.1075dup (p.Glu359fs)
|
rs2078499771
|
|
NM_001849.4(COL6A2):c.1096C>T (p.Arg366Ter)
|
rs387906609
|
|
NM_001849.4(COL6A2):c.1117-10A>G
|
rs1568931397
|
|
NM_001849.4(COL6A2):c.1151dup (p.Glu386fs)
|
rs1601231322
|
|
NM_001849.4(COL6A2):c.1249del (p.Arg417fs)
|
rs2078521344
|
|
NM_001849.4(COL6A2):c.1294A>T (p.Lys432Ter)
|
rs752730608
|
|
NM_001849.4(COL6A2):c.1327G>T (p.Glu443Ter)
|
|
|
NM_001849.4(COL6A2):c.1332+2T>C
|
rs2078532687
|
|
NM_001849.4(COL6A2):c.1437_1447del (p.Leu480fs)
|
|
|
NM_001849.4(COL6A2):c.1459-2A>G
|
rs749974929
|
|
NM_001849.4(COL6A2):c.1488_1513del (p.Arg498fs)
|
|
|
NM_001849.4(COL6A2):c.1507C>T (p.Gln503Ter)
|
|
|
NM_001849.4(COL6A2):c.1548del (p.Tyr517fs)
|
rs2078576503
|
|
NM_001849.4(COL6A2):c.1561C>T (p.Arg521Ter)
|
rs773686174
|
|
NM_001849.4(COL6A2):c.1572+1G>A
|
rs1057520717
|
|
NM_001849.4(COL6A2):c.1650del (p.Gly552fs)
|
|
|
NM_001849.4(COL6A2):c.1651AAAGGAGAG[1] (p.551KGE[1])
|
rs773493556
|
|
NM_001849.4(COL6A2):c.1751del (p.Pro584fs)
|
rs886044398
|
|
NM_001849.4(COL6A2):c.1770+1del
|
rs886044215
|
|
NM_001849.4(COL6A2):c.1771-1G>A
|
rs748035948
|
|
NM_001849.4(COL6A2):c.1771-1G>T
|
rs748035948
|
|
NM_001849.4(COL6A2):c.1817-2A>C
|
|
|
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.1956dup (p.Lys653fs)
|
|
|
NM_001849.4(COL6A2):c.1990C>T (p.Gln664Ter)
|
|
|
NM_001849.4(COL6A2):c.2002G>T (p.Glu668Ter)
|
rs138948335
|
|
NM_001849.4(COL6A2):c.2023C>T (p.Gln675Ter)
|
rs1293736497
|
|
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.2133C>A (p.Tyr711Ter)
|
rs531816975
|
|
NM_001849.4(COL6A2):c.2161C>T (p.Gln721Ter)
|
|
|
NM_001849.4(COL6A2):c.2305_2306del (p.Glu768_Ser769insTer)
|
rs2078662535
|
|
NM_001849.4(COL6A2):c.2315_2322del (p.Leu772fs)
|
|
|
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg)
|
rs267606747
|
|
NM_001849.4(COL6A2):c.2341C>T (p.Gln781Ter)
|
rs2123664803
|
|
NM_001849.4(COL6A2):c.2418C>A (p.Cys806Ter)
|
|
|
NM_001849.4(COL6A2):c.2422+1G>A
|
rs113828929
|
|
NM_001849.4(COL6A2):c.2476C>T (p.Gln826Ter)
|
rs2123454401
|
|
NM_001849.4(COL6A2):c.2500_2501del (p.Ile834fs)
|
rs2123454477
|
|
NM_001849.4(COL6A2):c.2560_2569dup (p.Glu857fs)
|
rs2123454645
|
|
NM_001849.4(COL6A2):c.2572C>T (p.Gln858Ter)
|
rs1555877252
|
|
NM_001849.4(COL6A2):c.2586dup (p.Leu863fs)
|
rs2123454751
|
|
NM_001849.4(COL6A2):c.2626C>A (p.Arg876Ser)
|
rs387906608
|
|
NM_001849.4(COL6A2):c.2663_2664dup (p.Gln889fs)
|
rs2123455043
|
|
NM_001849.4(COL6A2):c.2730C>A (p.Tyr910Ter)
|
|
|
NM_001849.4(COL6A2):c.2793_2821del (p.Ser931fs)
|
rs745716104
|
|
NM_001849.4(COL6A2):c.2865_2866del (p.Asp955fs)
|
|
|
NM_001849.4(COL6A2):c.288C>A (p.Tyr96Ter)
|
rs61735833
|
|
NM_001849.4(COL6A2):c.2988dup (p.Phe997fs)
|
rs1555877364
|
|
NM_001849.4(COL6A2):c.2995G>T (p.Glu999Ter)
|
rs142296092
|
|
NM_001849.4(COL6A2):c.430C>T (p.Gln144Ter)
|
|
|
NM_001849.4(COL6A2):c.439C>T (p.Gln147Ter)
|
rs2123615453
|
|
NM_001849.4(COL6A2):c.641_645del (p.Asn214fs)
|
rs1375040481
|
|
NM_001849.4(COL6A2):c.714+1G>C
|
rs2078419667
|
|
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.785G>A (p.Gly262Asp)
|
rs886042943
|
|
NM_001849.4(COL6A2):c.794G>A (p.Gly265Glu)
|
rs2078438903
|
|
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+631_882del
|
|
|
NM_001849.4(COL6A2):c.802G>A (p.Gly268Ser)
|
rs2123625485
|
|
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.830del (p.Gly277fs)
|
rs1555872819
|
|
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.847G>A (p.Gly283Arg)
|
rs267606748
|
|
NM_001849.4(COL6A2):c.848G>A (p.Gly283Glu)
|
rs886044088
|
|
NM_001849.4(COL6A2):c.855+1G>A
|
rs1057517988
|
|
NM_001849.4(COL6A2):c.855+1G>C
|
rs1057517988
|
|
NM_001849.4(COL6A2):c.855+4_855+7del
|
rs2123625716
|
|
NM_001849.4(COL6A2):c.856-1G>T
|
|
|
NM_001849.4(COL6A2):c.856-2A>G
|
rs886044466
|
|
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.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.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.900+1G>A
|
rs886044261
|
|
NM_001849.4(COL6A2):c.900+1G>T
|
|
|
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.954G>A (p.Lys318=)
|
rs878854362
|
|
NM_001849.4(COL6A2):c.954G>C (p.Lys318Asn)
|
rs878854362
|
|
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.997A>T (p.Lys333Ter)
|
|
|
NM_001849.4(COL6A2):c.998del (p.Lys333fs)
|
rs2123628814
|
|
NM_001849.4(COL6A2):c.999+9_1053+32delinsGCTGAAGGAGGGGTGCAAACGGCCCTTACCCGGTTTCCAGGGTCTCCCTTGCAGCCTTCA
|
rs2123628848
|
|
NM_002206.3(ITGA7):c.1088del (p.Gly363fs)
|
rs587780362
|
|
NM_002206.3(ITGA7):c.1088dup (p.His364fs)
|
rs587780362
|
|
NM_002206.3(ITGA7):c.1205del (p.Gly402fs)
|
rs1565629479
|
|
NM_002206.3(ITGA7):c.1327_1328del (p.Leu443fs)
|
|
|
NM_002206.3(ITGA7):c.1446_1453del (p.Ile483fs)
|
rs1474512248
|
|
NM_002206.3(ITGA7):c.1456C>T (p.Arg486Ter)
|
rs372328960
|
|
NM_002206.3(ITGA7):c.1506-2A>G
|
rs1565627745
|
|
NM_002206.3(ITGA7):c.1767del (p.Ile589fs)
|
|
|
NM_002206.3(ITGA7):c.187C>T (p.Gln63Ter)
|
rs1228677393
|
|
NM_002206.3(ITGA7):c.1966del (p.Thr656fs)
|
|
|
NM_002206.3(ITGA7):c.207G>A (p.Trp69Ter)
|
rs1874440714
|
|
NM_002206.3(ITGA7):c.2169_2171del (p.Tyr723_Ser724delinsTer)
|
rs1872274494
|
|
NM_002206.3(ITGA7):c.226C>T (p.Gln76Ter)
|
rs2136073462
|
|
NM_002206.3(ITGA7):c.2276del (p.Gln759fs)
|
|
|
NM_002206.3(ITGA7):c.2331_2344del (p.Glu777fs)
|
rs2135999822
|
|
NM_002206.3(ITGA7):c.2446C>T (p.Gln816Ter)
|
rs1565620275
|
|
NM_002206.3(ITGA7):c.2491C>T (p.Gln831Ter)
|
|
|
NM_002206.3(ITGA7):c.2670del (p.Gln891fs)
|
|
|
NM_002206.3(ITGA7):c.2710del (p.Leu904fs)
|
|
|
NM_002206.3(ITGA7):c.2712+2T>C
|
rs774985604
|
|
NM_002206.3(ITGA7):c.2749dup (p.Glu917fs)
|
rs1871773510
|
|
NM_002206.3(ITGA7):c.2817del (p.Ala940fs)
|
|
|
NM_002206.3(ITGA7):c.29G>A (p.Trp10Ter)
|
rs775325159
|
|
NM_002206.3(ITGA7):c.3075C>G (p.Tyr1025Ter)
|
rs754699820
|
|
NM_002206.3(ITGA7):c.34dup (p.Ala12fs)
|
rs1384460756
|
|
NM_002206.3(ITGA7):c.517del (p.Arg173fs)
|
rs2136056222
|
|
NM_003863.4(DPM2):c.109C>T (p.Gln37Ter)
|
|
|
NM_003863.4(DPM2):c.139C>T (p.Arg47Ter)
|
rs549450795
|
|
NM_003863.4(DPM2):c.173G>A (p.Gly58Asp)
|
rs1185338798
|
|
NM_003863.4(DPM2):c.29del (p.Gly10fs)
|
|
|
NM_003863.4(DPM2):c.37del (p.Leu13fs)
|
rs1349389319
|
|
NM_003863.4(DPM2):c.4-1G>C
|
rs797044467
|
|
NM_003863.4(DPM2):c.68A>G (p.Tyr23Cys)
|
rs397514503
|
|
NM_004369.4(COL6A3):c.1234C>T (p.Gln412Ter)
|
|
|
NM_004369.4(COL6A3):c.1393C>T (p.Arg465Ter)
|
rs121434554
|
|
NM_004369.4(COL6A3):c.1699C>T (p.Gln567Ter)
|
rs1559261557
|
|
NM_004369.4(COL6A3):c.1699_1703del (p.Gln567fs)
|
|
|
NM_004369.4(COL6A3):c.179_180del (p.Glu60fs)
|
|
|
NM_004369.4(COL6A3):c.181_182insAG (p.Phe61Ter)
|
|
|
NM_004369.4(COL6A3):c.183del (p.Leu62fs)
|
rs764524653
|
|
NM_004369.4(COL6A3):c.1840C>T (p.Gln614Ter)
|
rs1574724863
|
|
NM_004369.4(COL6A3):c.1940C>A (p.Ser647Ter)
|
rs2106367443
|
|
NM_004369.4(COL6A3):c.217G>T (p.Glu73Ter)
|
|
|
NM_004369.4(COL6A3):c.2250del (p.Thr751fs)
|
|
|
NM_004369.4(COL6A3):c.2367del (p.Ile789fs)
|
rs2106366689
|
|
NM_004369.4(COL6A3):c.2431C>T (p.Gln811Ter)
|
rs1574719512
|
|
NM_004369.4(COL6A3):c.2506C>T (p.Arg836Ter)
|
rs761796175
|
|
NM_004369.4(COL6A3):c.2620C>T (p.Arg874Ter)
|
rs1553561409
|
|
NM_004369.4(COL6A3):c.3400C>T (p.Gln1134Ter)
|
rs2106361236
|
|
NM_004369.4(COL6A3):c.3504dup (p.Asn1169fs)
|
|
|
NM_004369.4(COL6A3):c.399del (p.Ala134fs)
|
rs2106388332
|
|
NM_004369.4(COL6A3):c.4124del (p.Gln1375fs)
|
rs886042447
|
|
NM_004369.4(COL6A3):c.4390C>T (p.Arg1464Ter)
|
rs912671116
|
|
NM_004369.4(COL6A3):c.4427_4434del (p.Gly1476fs)
|
|
|
NM_004369.4(COL6A3):c.4533del (p.Ser1512fs)
|
|
|
NM_004369.4(COL6A3):c.4744G>T (p.Glu1582Ter)
|
|
|
NM_004369.4(COL6A3):c.4899del (p.Glu1634fs)
|
rs2077607833
|
|
NM_004369.4(COL6A3):c.5036G>A (p.Gly1679Glu)
|
rs121434553
|
|
NM_004369.4(COL6A3):c.5177T>G (p.Leu1726Arg)
|
rs121434555
|
|
NM_004369.4(COL6A3):c.526G>T (p.Gly176Ter)
|
|
|
NM_004369.4(COL6A3):c.5311del (p.Val1771fs)
|
|
|
NM_004369.4(COL6A3):c.5480del (p.Gly1827fs)
|
rs777304794
|
|
NM_004369.4(COL6A3):c.5581A>T (p.Lys1861Ter)
|
|
|
NM_004369.4(COL6A3):c.5946dup (p.Glu1983Ter)
|
|
|
NM_004369.4(COL6A3):c.5992C>T (p.Arg1998Ter)
|
|
|
NM_004369.4(COL6A3):c.6114dup (p.Gln2039fs)
|
rs2106344225
|
|
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>T (p.Lys2052Asn)
|
rs398124125
|
|
NM_004369.4(COL6A3):c.6158G>A (p.Gly2053Asp)
|
|
|
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.6210+1G>A
|
rs398124126
|
|
NM_004369.4(COL6A3):c.6212G>A (p.Gly2071Asp)
|
rs886043737
|
|
NM_004369.4(COL6A3):c.6212_6309+28del
|
rs1553553313
|
|
NM_004369.4(COL6A3):c.6220G>A (p.Gly2074Ser)
|
rs886044252
|
|
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.6239G>A (p.Gly2080Asp)
|
rs794727188
|
|
NM_004369.4(COL6A3):c.6282+1G>A
|
rs398124128
|
|
NM_004369.4(COL6A3):c.6283-15C>A
|
|
|
NM_004369.4(COL6A3):c.6283-1G>A
|
rs2106341460
|
|
NM_004369.4(COL6A3):c.6283-2A>G
|
rs797044988
|
|
NM_004369.4(COL6A3):c.6308A>G (p.Lys2103Arg)
|
rs1574975203
|
|
NM_004369.4(COL6A3):c.6309+1G>A
|
rs886043919
|
|
NM_004369.4(COL6A3):c.6309+1G>T
|
rs886043919
|
|
NM_004369.4(COL6A3):c.6309G>A (p.Lys2103=)
|
rs1574975196
|
|
NM_004369.4(COL6A3):c.6309_6309+1del
|
rs2077385886
|
|
NM_004369.4(COL6A3):c.6310-2A>G
|
rs1559225993
|
|
NM_004369.4(COL6A3):c.6354+1G>A
|
rs886042883
|
|
NM_004369.4(COL6A3):c.6354+1G>T
|
rs886042883
|
|
NM_004369.4(COL6A3):c.6355-2dup
|
rs2077379376
|
|
NM_004369.4(COL6A3):c.6460C>T (p.Arg2154Ter)
|
|
|
NM_004369.4(COL6A3):c.6618dup (p.Gly2207fs)
|
|
|
NM_004369.4(COL6A3):c.6930+5G>A
|
rs749037028
|
|
NM_004369.4(COL6A3):c.7112del (p.Gly2371fs)
|
rs1323862623
|
|
NM_004369.4(COL6A3):c.7174+1del
|
rs2106325341
|
|
NM_004369.4(COL6A3):c.7264C>T (p.Arg2422Ter)
|
rs878854379
|
|
NM_004369.4(COL6A3):c.7382del (p.Ala2461fs)
|
rs2106324972
|
|
NM_004369.4(COL6A3):c.761del (p.Gly254fs)
|
rs780921503
|
|
NM_004369.4(COL6A3):c.7648C>T (p.Gln2550Ter)
|
rs2106324666
|
|
NM_004369.4(COL6A3):c.7666C>T (p.Gln2556Ter)
|
rs2077054122
|
|
NM_004369.4(COL6A3):c.7720del (p.Leu2574fs)
|
rs1574942920
|
|
NM_004369.4(COL6A3):c.7796_7797del (p.Phe2599fs)
|
rs886042623
|
|
NM_004369.4(COL6A3):c.792_795del (p.Phe264fs)
|
|
|
NM_004369.4(COL6A3):c.8281C>T (p.Gln2761Ter)
|
rs2076967147
|
|
NM_004369.4(COL6A3):c.8430dup (p.Arg2811fs)
|
|
|
NM_004369.4(COL6A3):c.8481del (p.Leu2828fs)
|
rs2106317762
|
|
NM_004369.4(COL6A3):c.865G>T (p.Glu289Ter)
|
rs767654047
|
|
NM_004369.4(COL6A3):c.8931del (p.Ala2978fs)
|
rs1553544667
|
|
NM_004369.4(COL6A3):c.9160_9163dup (p.His3055fs)
|
rs2106312317
|
|
NM_004369.4(COL6A3):c.9384G>A (p.Trp3128Ter)
|
rs1405374416
|
|
NM_004370.5(COL12A1):c.7356del
|
rs1473576494
|
|
NM_004370.6(COL12A1):c.1488dup (p.Phe497fs)
|
rs1582196903
|
|
NM_004370.6(COL12A1):c.2252T>G (p.Leu751Ter)
|
|
|
NM_004370.6(COL12A1):c.27_42del (p.Ala10fs)
|
rs2149492561
|
|
NM_004370.6(COL12A1):c.3758T>G (p.Leu1253Ter)
|
rs1582139761
|
|
NM_004370.6(COL12A1):c.3994del (p.Ala1332fs)
|
rs1554182935
|
|
NM_004370.6(COL12A1):c.4172dup (p.Leu1391fs)
|
rs1582133194
|
|
NM_004370.6(COL12A1):c.4177del (p.Ile1393fs)
|
rs1767314344
|
|
NM_004370.6(COL12A1):c.4186C>T (p.Arg1396Ter)
|
|
|
NM_004370.6(COL12A1):c.4231_4232del (p.Ser1411fs)
|
|
|
NM_004370.6(COL12A1):c.4240C>T (p.Arg1414Ter)
|
rs1767310072
|
|
NM_004370.6(COL12A1):c.4245T>A (p.Tyr1415Ter)
|
|
|
NM_004370.6(COL12A1):c.4282C>T (p.Gln1428Ter)
|
|
|
NM_004370.6(COL12A1):c.4300C>T (p.Arg1434Ter)
|
rs1562223444
|
|
NM_004370.6(COL12A1):c.4414dup (p.Thr1472fs)
|
rs1767268002
|
|
NM_004370.6(COL12A1):c.4924G>T (p.Glu1642Ter)
|
|
|
NM_004370.6(COL12A1):c.4973dup (p.Thr1659fs)
|
|
|
NM_004370.6(COL12A1):c.5019del (p.Thr1674fs)
|
|
|
NM_004370.6(COL12A1):c.5269C>T (p.Arg1757Ter)
|
|
|
NM_004370.6(COL12A1):c.54del (p.Ser19fs)
|
|
|
NM_004370.6(COL12A1):c.5823del (p.Val1942fs)
|
|
|
NM_004370.6(COL12A1):c.6061C>T (p.Arg2021Ter)
|
|
|
NM_004370.6(COL12A1):c.6094A>T (p.Arg2032Ter)
|
|
|
NM_004370.6(COL12A1):c.6125C>A (p.Ser2042Ter)
|
rs767845062
|
|
NM_004370.6(COL12A1):c.6165C>A (p.Tyr2055Ter)
|
|
|
NM_004370.6(COL12A1):c.6612T>A (p.Tyr2204Ter)
|
rs1765909471
|
|
NM_004370.6(COL12A1):c.6737_6812del (p.Gln2246fs)
|
rs2149373593
|
|
NM_004370.6(COL12A1):c.6819del (p.Phe2273fs)
|
rs1765881602
|
|
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr)
|
rs796052093
|
|
NM_004370.6(COL12A1):c.7085del (p.Gln2362fs)
|
rs2149369481
|
|
NM_004370.6(COL12A1):c.7348C>T (p.Gln2450Ter)
|
|
|
NM_004370.6(COL12A1):c.7377del (p.Val2460fs)
|
|
|
NM_004370.6(COL12A1):c.7637del (p.Ser2546fs)
|
|
|
NM_004370.6(COL12A1):c.7840+1G>A
|
rs875989819
|
|
NM_004370.6(COL12A1):c.7925_7926del (p.Thr2642fs)
|
rs1582068925
|
|
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.8108del (p.Ile2703fs)
|
|
|
NM_004370.6(COL12A1):c.8319+1G>T
|
|
|
NM_004370.6(COL12A1):c.8329G>C (p.Gly2777Arg)
|
|
|
NM_004370.6(COL12A1):c.8357G>A (p.Gly2786Asp)
|
rs796052094
|
|
NM_004370.6(COL12A1):c.8366del (p.Gly2789fs)
|
|
|
NM_004370.6(COL12A1):c.8383G>T (p.Gly2795Ter)
|
rs1768358162
|
|
NM_004370.6(COL12A1):c.8464C>T (p.Arg2822Ter)
|
rs984314526
|
|
NM_004370.6(COL12A1):c.8571del (p.Pro2858fs)
|
rs2149337320
|
|
NM_004370.6(COL12A1):c.8577+1del
|
|
|
NM_004370.6(COL12A1):c.8713C>T (p.Arg2905Ter)
|
rs371399251
|
|
NM_004370.6(COL12A1):c.8740del (p.Gln2914fs)
|
|
|
NM_004370.6(COL12A1):c.8759_8762del (p.Met2920fs)
|
|
|
NM_004393.6(DAG1):c.2006G>T (p.Cys669Phe)
|
rs797045023
|
|
NM_004393.6(DAG1):c.235C>T (p.Arg79Ter)
|
rs1334656238
|
|
NM_004393.6(DAG1):c.285+1G>A
|
rs2050744878
|
|
NM_004393.6(DAG1):c.330G>A (p.Trp110Ter)
|
rs2051320206
|
|
NM_004393.6(DAG1):c.41C>A (p.Ser14Ter)
|
rs2131107
|
|
NM_004393.6(DAG1):c.440del (p.Gln147fs)
|
rs1553652503
|
|
NM_004393.6(DAG1):c.575C>T (p.Thr192Met)
|
rs193922955
|
|
NM_004393.6(DAG1):c.743del (p.Ala248fs)
|
rs869320680
|
|
NM_005198.5(CHKB):c.1003G>T (p.Glu335Ter)
|
rs2146652075
|
|
NM_005198.5(CHKB):c.1129C>T (p.Arg377Trp)
|
rs766848672
|
|
NM_005198.5(CHKB):c.116C>A (p.Ser39Ter)
|
rs387907068
|
|
NM_005198.5(CHKB):c.163G>T (p.Glu55Ter)
|
rs1045370021
|
|
NM_005198.5(CHKB):c.187C>T (p.Arg63Ter)
|
|
|
NM_005198.5(CHKB):c.216C>G (p.Tyr72Ter)
|
rs80067609
|
|
NM_005198.5(CHKB):c.224+1G>A
|
|
|
NM_005198.5(CHKB):c.268del (p.His90fs)
|
rs1569054508
|
|
NM_005198.5(CHKB):c.331C>T (p.Gln111Ter)
|
|
|
NM_005198.5(CHKB):c.382G>T (p.Glu128Ter)
|
rs1569054086
|
|
NM_005198.5(CHKB):c.400C>T (p.Gln134Ter)
|
rs1333100080
|
|
NM_005198.5(CHKB):c.446del (p.Pro149fs)
|
|
|
NM_005198.5(CHKB):c.458dup (p.Leu153fs)
|
rs786205117
|
|
NM_005198.5(CHKB):c.463del (p.Thr155fs)
|
rs2146656234
|
|
NM_005198.5(CHKB):c.536del (p.Met179fs)
|
|
|
NM_005198.5(CHKB):c.556del (p.His186fs)
|
|
|
NM_005198.5(CHKB):c.565_568del (p.Phe189fs)
|
rs752436924
|
|
NM_005198.5(CHKB):c.598del (p.Gln200fs)
|
rs757369551
|
|
NM_005198.5(CHKB):c.677+1G>A
|
rs786205118
|
|
NM_005198.5(CHKB):c.677+1G>C
|
|
|
NM_005198.5(CHKB):c.737-1G>C
|
rs2146653379
|
|
NM_005198.5(CHKB):c.808_809insC (p.Tyr270fs)
|
rs2146653193
|
|
NM_005198.5(CHKB):c.810T>A (p.Tyr270Ter)
|
rs750764003
|
|
NM_005198.5(CHKB):c.922C>T (p.Gln308Ter)
|
rs387907069
|
|
NM_005198.5(CHKB):c.925C>T (p.Gln309Ter)
|
rs139059552
|
|
NM_005198.5(CHKB):c.939del (p.Arg314fs)
|
|
|
NM_005198.5(CHKB):c.964_967del (p.Lys322fs)
|
rs771681297
|
|
NM_005868.6(BET1):c.202G>C (p.Asp68His)
|
rs1562806584
|
|
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.1207G>T (p.Glu403Ter)
|
rs921785357
|
|
NM_006876.3(B4GAT1):c.821_822insTT (p.Glu274fs)
|
rs730882237
|
|
NM_006876.3(B4GAT1):c.864T>A (p.Tyr288Ter)
|
|
|
NM_007171.4(POMT1):c.429_430del
|
|
|
NM_013382.5(POMT2):c.1170_1171del
|
rs764210532
|
|
NM_013382.7(POMT2):c.1034_1035del (p.Val345fs)
|
rs1890825132
|
|
NM_013382.7(POMT2):c.1046_1052del (p.Arg349fs)
|
|
|
NM_013382.7(POMT2):c.1051del (p.Ala351fs)
|
|
|
NM_013382.7(POMT2):c.1117G>T (p.Val373Phe)
|
rs267606965
|
|
NM_013382.7(POMT2):c.1123_1124dup (p.Tyr376fs)
|
rs886042401
|
|
NM_013382.7(POMT2):c.1130T>A (p.Leu377Ter)
|
|
|
NM_013382.7(POMT2):c.1158dup (p.Ile387fs)
|
|
|
NM_013382.7(POMT2):c.118_119del (p.Arg40fs)
|
|
|
NM_013382.7(POMT2):c.1243G>T (p.Glu415Ter)
|
|
|
NM_013382.7(POMT2):c.1261del (p.Arg421fs)
|
rs587777815
|
|
NM_013382.7(POMT2):c.127A>T (p.Lys43Ter)
|
|
|
NM_013382.7(POMT2):c.1293dup (p.Met432fs)
|
rs1555352706
|
|
NM_013382.7(POMT2):c.1300del (p.Arg434fs)
|
rs2140188352
|
|
NM_013382.7(POMT2):c.1311T>G (p.Tyr437Ter)
|
|
|
NM_013382.7(POMT2):c.1333-14G>A
|
rs918556979
|
|
NM_013382.7(POMT2):c.139_145del (p.Trp47fs)
|
|
|
NM_013382.7(POMT2):c.1412_1413dup (p.Ser472fs)
|
|
|
NM_013382.7(POMT2):c.1413_1414del (p.Arg473fs)
|
|
|
NM_013382.7(POMT2):c.1445G>T (p.Gly482Val)
|
rs267606968
|
|
NM_013382.7(POMT2):c.1495C>T (p.Gln499Ter)
|
|
|
NM_013382.7(POMT2):c.1555G>T (p.Glu519Ter)
|
rs1379963762
|
|
NM_013382.7(POMT2):c.1577T>A (p.Leu526Ter)
|
|
|
NM_013382.7(POMT2):c.1658dup (p.Asn553fs)
|
rs886043110
|
|
NM_013382.7(POMT2):c.1661del (p.Ser554fs)
|
|
|
NM_013382.7(POMT2):c.1712dup (p.Ile572fs)
|
rs780725241
|
|
NM_013382.7(POMT2):c.1740_1741del (p.Val582fs)
|
|
|
NM_013382.7(POMT2):c.1754_1755del (p.Thr585fs)
|
rs1555351894
|
|
NM_013382.7(POMT2):c.1768dup (p.Tyr590fs)
|
|
|
NM_013382.7(POMT2):c.1793G>A (p.Trp598Ter)
|
rs1566644018
|
|
NM_013382.7(POMT2):c.1911_1912delinsGT (p.Arg638Ter)
|
|
|
NM_013382.7(POMT2):c.1927_1943del (p.Val643fs)
|
|
|
NM_013382.7(POMT2):c.1941G>A (p.Trp647Ter)
|
rs267606963
|
|
NM_013382.7(POMT2):c.1967del (p.Leu656fs)
|
|
|
NM_013382.7(POMT2):c.1981del (p.Leu661fs)
|
|
|
NM_013382.7(POMT2):c.2021dup (p.Ser674fs)
|
|
|
NM_013382.7(POMT2):c.2064T>A (p.Cys688Ter)
|
|
|
NM_013382.7(POMT2):c.2147+1G>A
|
|
|
NM_013382.7(POMT2):c.2177G>A (p.Gly726Glu)
|
rs267606969
|
|
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter)
|
rs1452558347
|
|
NM_013382.7(POMT2):c.2197del (p.Gln733fs)
|
rs1292248431
|
|
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.227T>A (p.Leu76Ter)
|
|
|
NM_013382.7(POMT2):c.287A>G (p.Tyr96Cys)
|
|
|
NM_013382.7(POMT2):c.383del (p.Leu128fs)
|
|
|
NM_013382.7(POMT2):c.435_438dup (p.Phe147fs)
|
|
|
NM_013382.7(POMT2):c.524_533del (p.Leu175fs)
|
|
|
NM_013382.7(POMT2):c.648C>A (p.Cys216Ter)
|
rs147871747
|
|
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.70dup (p.Gln24fs)
|
|
|
NM_013382.7(POMT2):c.737G>A (p.Gly246Asp)
|
rs267606966
|
|
NM_013382.7(POMT2):c.786G>A (p.Trp262Ter)
|
|
|
NM_013382.7(POMT2):c.791del (p.Leu264fs)
|
rs1891020302
|
|
NM_013382.7(POMT2):c.816+1G>T
|
|
|
NM_013382.7(POMT2):c.824_825del (p.Val275fs)
|
|
|
NM_013382.7(POMT2):c.879_880del (p.Thr295fs)
|
rs752440109
|
|
NM_013382.7(POMT2):c.924-2A>C
|
rs886044256
|
|
NM_013382.7(POMT2):c.924-2A>G
|
rs886044256
|
|
NM_014254.3(RXYLT1):c.1019_1020delinsTT (p.Arg340Leu)
|
rs397514544
|
|
NM_014254.3(RXYLT1):c.139del (p.Ala47fs)
|
rs397514696
|
|
NM_014254.3(RXYLT1):c.169+2T>C
|
|
|
NM_014254.3(RXYLT1):c.279del (p.Gly94fs)
|
rs397514546
|
|
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.165G>T (p.Leu55Phe)
|
|
|
NM_016532.4(INPP5K):c.277A>G (p.Met93Val)
|
rs1060505039
|
|
NM_016532.4(INPP5K):c.753_756del (p.Arg251fs)
|
|
|
NM_016532.4(INPP5K):c.899A>G (p.Tyr300Cys)
|
rs766046008
|
|
NM_017739.4(POMGNT1):c.1001_1002del (p.Thr334fs)
|
rs1571659306
|
|
NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter)
|
rs751254522
|
|
NM_017739.4(POMGNT1):c.1043dup (p.Ala349fs)
|
rs2148192725
|
|
NM_017739.4(POMGNT1):c.1055_1059del (p.Gly352fs)
|
|
|
NM_017739.4(POMGNT1):c.1080del (p.Ile361fs)
|
rs2148192392
|
|
NM_017739.4(POMGNT1):c.10del (p.Trp4fs)
|
rs1571672866
|
|
NM_017739.4(POMGNT1):c.1104_1105del (p.Gln370fs)
|
rs1553163360
|
|
NM_017739.4(POMGNT1):c.1153G>T (p.Glu385Ter)
|
rs2148189653
|
|
NM_017739.4(POMGNT1):c.1282C>T (p.Gln428Ter)
|
rs1657864516
|
|
NM_017739.4(POMGNT1):c.1285-2A>G
|
rs386834012
|
|
NM_017739.4(POMGNT1):c.1285-2A>T
|
rs386834012
|
|
NM_017739.4(POMGNT1):c.1335del (p.Met446fs)
|
rs1553163206
|
|
NM_017739.4(POMGNT1):c.1350_1354del (p.Trp451fs)
|
rs386834015
|
|
NM_017739.4(POMGNT1):c.1352G>A (p.Trp451Ter)
|
|
|
NM_017739.4(POMGNT1):c.1365del (p.Arg455fs)
|
rs2148185606
|
|
NM_017739.4(POMGNT1):c.1374C>G (p.Tyr458Ter)
|
|
|
NM_017739.4(POMGNT1):c.1411A>T (p.Lys471Ter)
|
|
|
NM_017739.4(POMGNT1):c.1413+1G>C
|
rs587777821
|
|
NM_017739.4(POMGNT1):c.1413+1G>T
|
rs587777821
|
|
NM_017739.4(POMGNT1):c.1425G>A (p.Trp475Ter)
|
rs267606961
|
|
NM_017739.4(POMGNT1):c.1436del (p.Met479fs)
|
|
|
NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter)
|
rs727504103
|
|
NM_017739.4(POMGNT1):c.1465G>T (p.Glu489Ter)
|
|
|
NM_017739.4(POMGNT1):c.1478C>G (p.Pro493Arg)
|
rs28942068
|
|
NM_017739.4(POMGNT1):c.1539+1G>T
|
rs138642840
|
|
NM_017739.4(POMGNT1):c.1545del (p.Tyr516fs)
|
rs1434252108
|
|
NM_017739.4(POMGNT1):c.1556del (p.Lys519fs)
|
rs1176001640
|
|
NM_017739.4(POMGNT1):c.1609A>T (p.Lys537Ter)
|
|
|
NM_017739.4(POMGNT1):c.1615_1616del (p.Glu539fs)
|
|
|
NM_017739.4(POMGNT1):c.1623T>G (p.Tyr541Ter)
|
rs746196856
|
|
NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn)
|
rs193919335
|
|
NM_017739.4(POMGNT1):c.1672dup (p.Ser558fs)
|
|
|
NM_017739.4(POMGNT1):c.1677del (p.Asn560fs)
|
|
|
NM_017739.4(POMGNT1):c.1686dup (p.Glu563Ter)
|
rs2148167494
|
|
NM_017739.4(POMGNT1):c.1694_1695del (p.Ser565fs)
|
rs1057516903
|
|
NM_017739.4(POMGNT1):c.1719del (p.His573fs)
|
rs386834017
|
|
NM_017739.4(POMGNT1):c.1725_1726del (p.Val576fs)
|
|
|
NM_017739.4(POMGNT1):c.1759_1763del (p.Phe587fs)
|
rs1302430730
|
|
NM_017739.4(POMGNT1):c.1780del (p.Ala594fs)
|
|
|
NM_017739.4(POMGNT1):c.1788C>A (p.Cys596Ter)
|
rs376973640
|
|
NM_017739.4(POMGNT1):c.1812del (p.Arg605fs)
|
|
|
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.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.1841T>A (p.Leu614Ter)
|
rs1364587778
|
|
NM_017739.4(POMGNT1):c.1852A>T (p.Lys618Ter)
|
rs1553162663
|
|
NM_017739.4(POMGNT1):c.185_186insA (p.Arg63fs)
|
rs1057517153
|
|
NM_017739.4(POMGNT1):c.1876del (p.Val626fs)
|
rs386834022
|
|
NM_017739.4(POMGNT1):c.1895+1G>A
|
rs386834024
|
|
NM_017739.4(POMGNT1):c.1895+1G>C
|
rs386834024
|
|
NM_017739.4(POMGNT1):c.1A>G (p.Met1Val)
|
|
|
NM_017739.4(POMGNT1):c.20del (p.Ser7fs)
|
|
|
NM_017739.4(POMGNT1):c.263del (p.Pro88fs)
|
rs1557677980
|
|
NM_017739.4(POMGNT1):c.303_304insT (p.Glu102Ter)
|
|
|
NM_017739.4(POMGNT1):c.304G>T (p.Glu102Ter)
|
rs749603354
|
|
NM_017739.4(POMGNT1):c.351del (p.Thr118fs)
|
rs386834028
|
|
NM_017739.4(POMGNT1):c.36del (p.Phe13fs)
|
rs1658363329
|
|
NM_017739.4(POMGNT1):c.389dup (p.Ile131fs)
|
|
|
NM_017739.4(POMGNT1):c.390del (p.Ile131fs)
|
|
|
NM_017739.4(POMGNT1):c.3G>A (p.Met1Ile)
|
|
|
NM_017739.4(POMGNT1):c.426del (p.His142fs)
|
|
|
NM_017739.4(POMGNT1):c.447del (p.Phe149fs)
|
rs386834029
|
|
NM_017739.4(POMGNT1):c.478del (p.Met160fs)
|
rs1057517355
|
|
NM_017739.4(POMGNT1):c.511C>T (p.Arg171Ter)
|
rs1424631447
|
|
NM_017739.4(POMGNT1):c.538G>T (p.Glu180Ter)
|
|
|
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.586del (p.Leu196fs)
|
|
|
NM_017739.4(POMGNT1):c.593del (p.Ser198fs)
|
rs386834031
|
|
NM_017739.4(POMGNT1):c.595C>T (p.Gln199Ter)
|
rs908815575
|
|
NM_017739.4(POMGNT1):c.603_618delinsTCCCTTCAGATTCCTGA (p.Ala203fs)
|
|
|
NM_017739.4(POMGNT1):c.617G>A (p.Trp206Ter)
|
rs1156647434
|
|
NM_017739.4(POMGNT1):c.652+1G>A
|
rs386834035
|
|
NM_017739.4(POMGNT1):c.667G>A (p.Glu223Lys)
|
rs386834036
|
|
NM_017739.4(POMGNT1):c.699del (p.Trp234fs)
|
|
|
NM_017739.4(POMGNT1):c.727_728del (p.Asp243fs)
|
|
|
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.87_90dup (p.Asn31fs)
|
|
|
NM_017739.4(POMGNT1):c.880-1G>A
|
rs1317832573
|
|
NM_017739.4(POMGNT1):c.880-1G>C
|
rs1317832573
|
|
NM_017739.4(POMGNT1):c.94C>T (p.Gln32Ter)
|
|
|
NM_017739.4(POMGNT1):c.964_965del (p.Leu322fs)
|
|
|
NM_017739.4(POMGNT1):c.990_991insAA (p.Gln331fs)
|
|
|
NM_017739.4(POMGNT1):c.991C>T (p.Gln331Ter)
|
rs1557673817
|
|
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.1086dup (p.Pro363fs)
|
rs2124450830
|
|
NM_020451.3(SELENON):c.1168del (p.Leu390fs)
|
|
|
NM_020451.3(SELENON):c.1176del (p.Glu394fs)
|
|
|
NM_020451.3(SELENON):c.1180G>T (p.Glu394Ter)
|
rs747284477
|
|
NM_020451.3(SELENON):c.1189C>T (p.Gln397Ter)
|
|
|
NM_020451.3(SELENON):c.1222G>T (p.Glu408Ter)
|
|
|
NM_020451.3(SELENON):c.1282-1G>T
|
|
|
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.1384T>G
|
rs121908187
|
|
NM_020451.3(SELENON):c.1387+1G>A
|
rs2047977957
|
|
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.142del (p.Val48fs)
|
|
|
NM_020451.3(SELENON):c.1446del (p.Asn483fs)
|
rs2124454648
|
|
NM_020451.3(SELENON):c.160G>T (p.Glu54Ter)
|
rs2047850525
|
|
NM_020451.3(SELENON):c.166C>T (p.Gln56Ter)
|
rs1557814050
|
|
NM_020451.3(SELENON):c.180del (p.Gln61fs)
|
rs1557814066
|
|
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.249_250dup (p.Asp84fs)
|
rs1553198611
|
|
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.402_403+2del
|
rs773670891
|
|
NM_020451.3(SELENON):c.404-1G>A
|
rs1005071009
|
|
NM_020451.3(SELENON):c.44_72dup (p.Arg25fs)
|
rs797044620
|
|
NM_020451.3(SELENON):c.572G>A (p.Trp191Ter)
|
rs2047929645
|
|
NM_020451.3(SELENON):c.643del (p.Gln215fs)
|
rs2047931126
|
|
NM_020451.3(SELENON):c.665G>A (p.Trp222Ter)
|
rs1553120047
|
|
NM_020451.3(SELENON):c.683_689dup (p.Met230fs)
|
rs1553120055
|
|
NM_020451.3(SELENON):c.69_76dup (p.Arg26fs)
|
|
|
NM_020451.3(SELENON):c.700_701insC (p.Tyr234fs)
|
rs2124447526
|
|
NM_020451.3(SELENON):c.713dup (p.Asn238fs)
|
rs368104077
|
|
NM_020451.3(SELENON):c.746_747+36del
|
rs2047932848
|
|
NM_020451.3(SELENON):c.748-2_760del
|
rs758934983
|
|
NM_020451.3(SELENON):c.773del (p.Met258fs)
|
|
|
NM_020451.3(SELENON):c.818G>A (p.Gly273Glu)
|
rs121908182
|
|
NM_020451.3(SELENON):c.863_864del (p.Val288fs)
|
rs1184282261
|
|
NM_020451.3(SELENON):c.890_981dup (p.Asp328fs)
|
|
|
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.921G>A (p.Trp307Ter)
|
rs1553120202
|
|
NM_020451.3(SELENON):c.963dup (p.Asp322fs)
|
|
|
NM_020451.3(SELENON):c.997_1000del (p.Val333fs)
|
rs886041686
|
|
NM_020451.3(SELENON):c.9_33del (p.Ala4fs)
|
rs886041619
|
|
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn)
|
rs397509422
|
|
NM_021971.4(GMPPB):c.1039_1042dup (p.Ser348Ter)
|
rs1210040661
|
|
NM_021971.4(GMPPB):c.1051_1054dup (p.Ser352Ter)
|
|
|
NM_021971.4(GMPPB):c.109C>T (p.Gln37Ter)
|
rs1348189028
|
|
NM_021971.4(GMPPB):c.132_141del (p.Gly45fs)
|
|
|
NM_021971.4(GMPPB):c.220C>T (p.Arg74Ter)
|
rs397509423
|
|
NM_021971.4(GMPPB):c.225del (p.Ser76fs)
|
|
|
NM_021971.4(GMPPB):c.271_283del (p.Ala91fs)
|
rs1191822017
|
|
NM_021971.4(GMPPB):c.308C>T (p.Pro103Leu)
|
rs875989851
|
|
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.458_459del (p.Thr153fs)
|
rs1553691918
|
|
NM_021971.4(GMPPB):c.618dup (p.Leu207fs)
|
|
|
NM_021971.4(GMPPB):c.640+1G>A
|
rs141588721
|
|
NM_021971.4(GMPPB):c.64C>T (p.Pro22Ser)
|
rs397509424
|
|
NM_021971.4(GMPPB):c.728_746delinsACAGA (p.Arg243fs)
|
rs2080426663
|
|
NM_021971.4(GMPPB):c.790C>T (p.Gln264Ter)
|
rs763971677
|
|
NM_021971.4(GMPPB):c.854_855del (p.Cys285fs)
|
|
|
NM_021971.4(GMPPB):c.951G>A (p.Trp317Ter)
|
|
|
NM_021971.4(GMPPB):c.972dup (p.Val325fs)
|
|
|
NM_024301.5(FKRP):c.-39-2934_564del
|
|
|
NM_024301.5(FKRP):c.1012G>T (p.Val338Leu)
|
rs1173430388
|
|
NM_024301.5(FKRP):c.1020C>G (p.Tyr340Ter)
|
|
|
NM_024301.5(FKRP):c.1027G>T (p.Glu343Ter)
|
rs587780334
|
|
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.1100T>A (p.Ile367Asn)
|
|
|
NM_024301.5(FKRP):c.1100T>C (p.Ile367Thr)
|
rs1555739020
|
|
NM_024301.5(FKRP):c.1125C>A (p.Cys375Ter)
|
|
|
NM_024301.5(FKRP):c.1141del (p.Ala381fs)
|
rs754403441
|
|
NM_024301.5(FKRP):c.1141dup (p.Ala381fs)
|
rs754403441
|
|
NM_024301.5(FKRP):c.1154C>A (p.Ser385Ter)
|
rs104894680
|
|
NM_024301.5(FKRP):c.1170_1171del (p.Gly391fs)
|
rs748087383
|
|
NM_024301.5(FKRP):c.1187dup (p.Ala397fs)
|
rs772020161
|
|
NM_024301.5(FKRP):c.1208dup (p.Arg404fs)
|
|
|
NM_024301.5(FKRP):c.1210C>T (p.Arg404Cys)
|
|
|
NM_024301.5(FKRP):c.1213G>T (p.Val405Leu)
|
rs28937904
|
|
NM_024301.5(FKRP):c.1216C>T (p.Gln406Ter)
|
|
|
NM_024301.5(FKRP):c.1221C>G (p.Tyr407Ter)
|
|
|
NM_024301.5(FKRP):c.1234dup (p.His412fs)
|
rs2122633849
|
|
NM_024301.5(FKRP):c.1238del (p.Leu413fs)
|
rs2054934925
|
|
NM_024301.5(FKRP):c.1256_1257del (p.Pro419fs)
|
rs886043959
|
|
NM_024301.5(FKRP):c.1267del (p.Arg423fs)
|
rs886044083
|
|
NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter)
|
rs1599939853
|
|
NM_024301.5(FKRP):c.1335_1336del (p.Leu446fs)
|
rs1384878260
|
|
NM_024301.5(FKRP):c.1336del (p.Leu446fs)
|
|
|
NM_024301.5(FKRP):c.1339C>T (p.Gln447Ter)
|
|
|
NM_024301.5(FKRP):c.1354del (p.Leu452fs)
|
rs2122635879
|
|
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp)
|
rs28937903
|
|
NM_024301.5(FKRP):c.1378C>T (p.Gln460Ter)
|
|
|
NM_024301.5(FKRP):c.1429del (p.Val477fs)
|
|
|
NM_024301.5(FKRP):c.142del (p.Arg48fs)
|
rs1555738103
|
|
NM_024301.5(FKRP):c.142dup (p.Arg48fs)
|
|
|
NM_024301.5(FKRP):c.151G>T (p.Val51Phe)
|
rs769377092
|
|
NM_024301.5(FKRP):c.158_162dup (p.Glu55fs)
|
rs1290836394
|
|
NM_024301.5(FKRP):c.160C>T (p.Arg54Trp)
|
rs28937905
|
|
NM_024301.5(FKRP):c.162_165dup (p.Phe56fs)
|
rs886042506
|
|
NM_024301.5(FKRP):c.169G>A (p.Glu57Lys)
|
rs773024545
|
|
NM_024301.5(FKRP):c.178_199del (p.Phe59_Asp60insTer)
|
|
|
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.214C>T (p.Gln72Ter)
|
rs1555738201
|
|
NM_024301.5(FKRP):c.217C>T (p.Gln73Ter)
|
|
|
NM_024301.5(FKRP):c.224del (p.Pro75fs)
|
rs779619633
|
|
NM_024301.5(FKRP):c.230_234del (p.Gln77fs)
|
|
|
NM_024301.5(FKRP):c.230_234dup (p.Val79fs)
|
rs1555738204
|
|
NM_024301.5(FKRP):c.261del (p.Tyr88fs)
|
|
|
NM_024301.5(FKRP):c.265C>G (p.Pro89Ala)
|
|
|
NM_024301.5(FKRP):c.295del (p.Val99fs)
|
|
|
NM_024301.5(FKRP):c.447_451del (p.Ala150fs)
|
|
|
NM_024301.5(FKRP):c.469G>C (p.Ala157Pro)
|
rs727502842
|
|
NM_024301.5(FKRP):c.511_523del (p.Leu171fs)
|
rs1314297056
|
|
NM_024301.5(FKRP):c.515dup (p.Asn172fs)
|
rs2122617005
|
|
NM_024301.5(FKRP):c.526C>T (p.Arg176Ter)
|
rs1555738502
|
|
NM_024301.5(FKRP):c.540_570dup (p.Cys191fs)
|
rs1311148380
|
|
NM_024301.5(FKRP):c.542_567del (p.Arg181fs)
|
|
|
NM_024301.5(FKRP):c.586G>C (p.Gly196Arg)
|
rs759875552
|
|
NM_024301.5(FKRP):c.646C>T (p.Arg216Trp)
|
rs2054912295
|
|
NM_024301.5(FKRP):c.650dup (p.Val218fs)
|
rs2122620454
|
|
NM_024301.5(FKRP):c.651_652dup (p.Val218fs)
|
|
|
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.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.692G>A (p.Trp231Ter)
|
|
|
NM_024301.5(FKRP):c.712_713del (p.Leu238fs)
|
|
|
NM_024301.5(FKRP):c.722_791del (p.Ala241fs)
|
|
|
NM_024301.5(FKRP):c.778G>T (p.Glu260Ter)
|
rs1555738753
|
|
NM_024301.5(FKRP):c.779_785del (p.Glu260fs)
|
rs2122623346
|
|
NM_024301.5(FKRP):c.796del (p.Ala266fs)
|
rs1555738764
|
|
NM_024301.5(FKRP):c.797dup (p.Ala267fs)
|
|
|
NM_024301.5(FKRP):c.813_814dup (p.Leu272fs)
|
|
|
NM_024301.5(FKRP):c.81_82delinsTT (p.Gln28Ter)
|
|
|
NM_024301.5(FKRP):c.828del (p.Leu276_Val277insTer)
|
|
|
NM_024301.5(FKRP):c.835dup (p.Trp279fs)
|
|
|
NM_024301.5(FKRP):c.857G>A (p.Trp286Ter)
|
|
|
NM_024301.5(FKRP):c.877A>G (p.Thr293Ala)
|
rs2122625896
|
|
NM_024301.5(FKRP):c.892G>T (p.Gly298Ter)
|
rs886043401
|
|
NM_024301.5(FKRP):c.897dup (p.Val300fs)
|
|
|
NM_024301.5(FKRP):c.919del (p.Tyr307fs)
|
rs2122626858
|
|
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter)
|
rs765885747
|
|
NM_024301.5(FKRP):c.938G>A (p.Trp313Ter)
|
|
|
NM_024301.5(FKRP):c.941C>T (p.Thr314Met)
|
rs398124395
|
|
NM_024301.5(FKRP):c.946C>A (p.Pro316Thr)
|
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.948del (p.Cys317fs)
|
rs748798133
|
|
NM_024301.5(FKRP):c.949del (p.Cys317fs)
|
|
|
NM_024301.5(FKRP):c.953G>A (p.Cys318Tyr)
|
rs104894684
|
|
NM_024301.5(FKRP):c.963_964del (p.Leu322fs)
|
rs1555738883
|
|
NM_024301.5(FKRP):c.970G>T (p.Glu324Ter)
|
rs886044183
|
|
NM_024301.5(FKRP):c.979dup (p.Arg327fs)
|
rs2122628653
|
|
NM_024301.5(FKRP):c.985G>A (p.Val329Met)
|
|
|
NM_024301.5(FKRP):c.998_1015del (p.Leu333_Val338del)
|
rs2122628972
|
|
NM_032237.5(POMK):c.152del (p.Asp51fs)
|
rs2130601407
|
|
NM_032237.5(POMK):c.238_239del (p.Glu80fs)
|
rs1454006905
|
|
NM_032237.5(POMK):c.247C>T (p.Gln83Ter)
|
|
|
NM_032237.5(POMK):c.280A>T (p.Arg94Ter)
|
|
|
NM_032237.5(POMK):c.282+1G>C
|
rs1206884841
|
|
NM_032237.5(POMK):c.288del (p.Leu97fs)
|
rs606231306
|
|
NM_032237.5(POMK):c.325C>T (p.Gln109Ter)
|
rs587777423
|
|
NM_032237.5(POMK):c.43dup (p.Arg15fs)
|
rs749980792
|
|
NM_032237.5(POMK):c.452_455dup (p.His152fs)
|
rs2130626601
|
|
NM_032237.5(POMK):c.459del (p.Pro153_Leu154insTer)
|
|
|
NM_032237.5(POMK):c.645T>G (p.Tyr215Ter)
|
|
|
NM_032237.5(POMK):c.724dup (p.Val242fs)
|
|
|
NM_032237.5(POMK):c.754dup (p.Asp252fs)
|
|
|
NM_032237.5(POMK):c.803del (p.Phe268fs)
|
|
|
NM_032237.5(POMK):c.847del (p.Trp283fs)
|
|
|
NM_032237.5(POMK):c.94_98del (p.Thr32fs)
|
|
|
NM_032806.6(POMGNT2):c.1000_1003del (p.Leu334fs)
|
rs2089839448
|
|
NM_032806.6(POMGNT2):c.1042C>T (p.Gln348Ter)
|
rs1021357430
|
|
NM_032806.6(POMGNT2):c.118C>T (p.Arg40Ter)
|
rs2089853535
|
|
NM_032806.6(POMGNT2):c.1258del (p.Ala420fs)
|
rs1575461722
|
|
NM_032806.6(POMGNT2):c.1326G>A (p.Trp442Ter)
|
rs2125699699
|
|
NM_032806.6(POMGNT2):c.1333C>T (p.Arg445Ter)
|
rs387907299
|
|
NM_032806.6(POMGNT2):c.1510del (p.Val504fs)
|
|
|
NM_032806.6(POMGNT2):c.381_382del (p.Gln128fs)
|
|
|
NM_032806.6(POMGNT2):c.40del (p.Val14fs)
|
|
|
NM_032806.6(POMGNT2):c.410_411delinsG (p.Ala137fs)
|
rs2125700808
|
|
NM_032806.6(POMGNT2):c.503T>C (p.Phe168Ser)
|
rs2125700641
|
|
NM_032806.6(POMGNT2):c.745C>T (p.Gln249Ter)
|
rs1553618354
|
|
NM_032806.6(POMGNT2):c.817_818del (p.Glu273fs)
|
|
|
NM_032806.6(POMGNT2):c.820_821del (p.Lys274fs)
|
rs2125700249
|
|
NM_133642.5(LARGE1):c.1030C>T (p.Gln344Ter)
|
|
|
NM_133642.5(LARGE1):c.1209del (p.Phe404fs)
|
rs1938637889
|
|
NM_133642.5(LARGE1):c.1390G>T (p.Glu464Ter)
|
|
|
NM_133642.5(LARGE1):c.1538dup (p.Leu514fs)
|
|
|
NM_133642.5(LARGE1):c.156dup (p.Arg53fs)
|
|
|
NM_133642.5(LARGE1):c.1616_1620delinsG (p.Gln539fs)
|
|
|
NM_133642.5(LARGE1):c.1671del (p.Tyr558fs)
|
|
|
NM_133642.5(LARGE1):c.1699del (p.Leu567fs)
|
rs1934564024
|
|
NM_133642.5(LARGE1):c.171del (p.Ser58fs)
|
|
|
NM_133642.5(LARGE1):c.1811del (p.Leu604fs)
|
rs2145893296
|
|
NM_133642.5(LARGE1):c.184_187del (p.Glu63fs)
|
|
|
NM_133642.5(LARGE1):c.1999dup (p.Cys667fs)
|
|
|
NM_133642.5(LARGE1):c.265C>T (p.Arg89Ter)
|
rs1359437833
|
|
NM_133642.5(LARGE1):c.283C>T (p.Arg95Ter)
|
rs761071115
|
|
NM_133642.5(LARGE1):c.334G>T (p.Glu112Ter)
|
rs146078928
|
|
NM_133642.5(LARGE1):c.620_621del (p.Glu207fs)
|
rs2148785084
|
|
NM_133642.5(LARGE1):c.864G>A (p.Trp288Ter)
|
|
|
NM_133642.5(LARGE1):c.941_945dup (p.Trp316fs)
|
|
|
NM_133642.5(LARGE1):c.96del (p.Ser33fs)
|
|
|
NM_133642.5(LARGE1):c.992C>T (p.Ser331Phe)
|
rs267607210
|
|
NM_152490.5(B3GALNT2):c.1020_1021dup (p.Arg341fs)
|
rs1276205801
|
|
NM_152490.5(B3GALNT2):c.1039dup (p.Thr347fs)
|
rs2102784860
|
|
NM_152490.5(B3GALNT2):c.1066_1067del (p.Thr355_Asp356insTer)
|
rs781339765
|
|
NM_152490.5(B3GALNT2):c.1177C>T (p.Arg393Ter)
|
rs1300792331
|
|
NM_152490.5(B3GALNT2):c.1209_1257dup (p.Lys420fs)
|
|
|
NM_152490.5(B3GALNT2):c.1223del (p.Pro408fs)
|
rs1553342786
|
|
NM_152490.5(B3GALNT2):c.1275_1278delinsCCT (p.Trp425fs)
|
rs1683058752
|
|
NM_152490.5(B3GALNT2):c.1337G>A (p.Trp446Ter)
|
|
|
NM_152490.5(B3GALNT2):c.133C>T (p.Gln45Ter)
|
rs1685241606
|
|
NM_152490.5(B3GALNT2):c.1368+1G>C
|
rs1479230229
|
|
NM_152490.5(B3GALNT2):c.1423C>T (p.Gln475Ter)
|
rs367543077
|
|
NM_152490.5(B3GALNT2):c.199C>T (p.Arg67Ter)
|
rs760816239
|
|
NM_152490.5(B3GALNT2):c.27C>A (p.Cys9Ter)
|
rs1685730083
|
|
NM_152490.5(B3GALNT2):c.308_309del (p.Val103fs)
|
rs367543070
|
|
NM_152490.5(B3GALNT2):c.51_73dup (p.Ser25fs)
|
rs367543069
|
|
NM_152490.5(B3GALNT2):c.59G>A (p.Trp20Ter)
|
rs2102880436
|
|
NM_152490.5(B3GALNT2):c.652-1G>C
|
rs2102815577
|
|
NM_152490.5(B3GALNT2):c.699del (p.Val234fs)
|
rs1572513308
|
|
NM_152490.5(B3GALNT2):c.753del (p.Val252fs)
|
rs2102815215
|
|
NM_152490.5(B3GALNT2):c.755T>G (p.Val252Gly)
|
rs367543073
|
|
NM_152490.5(B3GALNT2):c.763-1G>A
|
rs780433836
|
|
NM_152490.5(B3GALNT2):c.770dup (p.Ala259fs)
|
rs1064793673
|
|
NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs)
|
rs367543075
|
|
NM_152490.5(B3GALNT2):c.875G>C (p.Arg292Pro)
|
rs367543076
|
|
NM_152490.5(B3GALNT2):c.903dup (p.Asn302fs)
|
rs1469279569
|
|
NM_152490.5(B3GALNT2):c.947dup (p.Tyr317fs)
|
|
|
NM_153741.2(DPM3):c.124C>G (p.Pro42Ala)
|
rs745692004
|
|
NM_153741.2(DPM3):c.179del (p.Arg60fs)
|
|
|
NM_153741.2(DPM3):c.205del (p.Asp69fs)
|
|
|
NM_153741.2(DPM3):c.21G>A (p.Trp7Ter)
|
rs1444066075
|
|
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.27G>A (p.Trp9Ter)
|
|
|
NM_153741.2(DPM3):c.5del (p.Thr2fs)
|
|
|
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys)
|
rs60458016
|
|
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.1147G>A (p.Glu383Lys)
|
rs1651580090
|
|
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)
|
rs58932704
|
|
NM_170707.4(LMNA):c.148C>T (p.Arg50Cys)
|
rs59931416
|
|
NM_170707.4(LMNA):c.1608+1G>A
|
rs267607592
|
|
NM_170707.4(LMNA):c.428C>T (p.Ser143Phe)
|
rs58912633
|
|
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)
|
rs121912496
|
|
NM_170707.4(LMNA):c.810+1G>C
|
rs267607632
|
|
NM_170707.4(LMNA):c.851T>C (p.Leu284Pro)
|
rs886043260
|
|
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_173660.5(DOK7):c.1001_1011dup (p.Ser338fs)
|
|
|
NM_173660.5(DOK7):c.1021_1039dup (p.Ser347fs)
|
rs1553850100
|
|
NM_173660.5(DOK7):c.1040_1041del (p.Ser347fs)
|
|
|
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)
|
rs606231128
|
|
NM_173660.5(DOK7):c.1138dup (p.Ala380fs)
|
rs761899995
|
|
NM_173660.5(DOK7):c.1143del (p.Glu382fs)
|
rs606231132
|
|
NM_173660.5(DOK7):c.1143dup (p.Glu382fs)
|
rs606231132
|
|
NM_173660.5(DOK7):c.1153_1166delinsAGGGGCCCCCGA (p.Leu385fs)
|
|
|
NM_173660.5(DOK7):c.1236C>A (p.Cys412Ter)
|
|
|
NM_173660.5(DOK7):c.1247_1250dup (p.Asp417fs)
|
|
|
NM_173660.5(DOK7):c.1257_1269del (p.Ser419fs)
|
|
|
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.1271_1280dup (p.Asn428fs)
|
|
|
NM_173660.5(DOK7):c.1296_1311del (p.Asp433fs)
|
rs778172294
|
|
NM_173660.5(DOK7):c.1296_1311dup (p.Thr438fs)
|
|
|
NM_173660.5(DOK7):c.1310_1320del (p.Gln437fs)
|
|
|
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.1339_1342del (p.Leu447fs)
|
|
|
NM_173660.5(DOK7):c.1339_1342dup (p.Gly448fs)
|
rs606231131
|
|
NM_173660.5(DOK7):c.1348del (p.Arg450fs)
|
|
|
NM_173660.5(DOK7):c.1358dup (p.Leu454fs)
|
rs775544277
|
|
NM_173660.5(DOK7):c.1361_1374del (p.Leu454fs)
|
|
|
NM_173660.5(DOK7):c.1367dup (p.Met456fs)
|
|
|
NM_173660.5(DOK7):c.1372dup (p.Ala458fs)
|
|
|
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.1387G>T (p.Glu463Ter)
|
rs745941308
|
|
NM_173660.5(DOK7):c.1408_1412dup (p.Gly472fs)
|
rs1728671600
|
|
NM_173660.5(DOK7):c.1441dup (p.His481fs)
|
rs1168106708
|
|
NM_173660.5(DOK7):c.1457del (p.Pro486fs)
|
rs1577184455
|
|
NM_173660.5(DOK7):c.1476_1485dup (p.Gly496fs)
|
rs797045040
|
|
NM_173660.5(DOK7):c.199C>T (p.Pro67Ser)
|
rs1553846331
|
|
NM_173660.5(DOK7):c.28C>T (p.Gln10Ter)
|
|
|
NM_173660.5(DOK7):c.28del (p.Gln10fs)
|
rs1560200925
|
|
NM_173660.5(DOK7):c.298dup (p.Trp100fs)
|
|
|
NM_173660.5(DOK7):c.299G>A (p.Trp100Ter)
|
rs2109336441
|
|
NM_173660.5(DOK7):c.325G>A (p.Gly109Ser)
|
rs762952740
|
|
NM_173660.5(DOK7):c.429del (p.Asp143fs)
|
|
|
NM_173660.5(DOK7):c.457A>T (p.Lys153Ter)
|
rs1727096342
|
|
NM_173660.5(DOK7):c.463_466del (p.Ser155fs)
|
|
|
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.496G>T (p.Gly166Ter)
|
|
|
NM_173660.5(DOK7):c.513C>T (p.Gly171=)
|
rs775583136
|
|
NM_173660.5(DOK7):c.539G>C (p.Gly180Ala)
|
rs118203994
|
|
NM_173660.5(DOK7):c.54+25_55-38del
|
rs769850502
|
|
NM_173660.5(DOK7):c.548_551del (p.Phe183fs)
|
rs606231130
|
|
NM_173660.5(DOK7):c.55-1G>T
|
rs863223277
|
|
NM_173660.5(DOK7):c.601C>T (p.Arg201Ter)
|
rs118203995
|
|
NM_173660.5(DOK7):c.668dup (p.Pro224fs)
|
|
|
NM_173660.5(DOK7):c.66_69dup (p.Leu24fs)
|
|
|
NM_173660.5(DOK7):c.674C>A (p.Ser225Ter)
|
|
|
NM_173660.5(DOK7):c.718C>T (p.Gln240Ter)
|
|
|
NM_173660.5(DOK7):c.743_746dup (p.His250fs)
|
rs1560224831
|
|
NM_173660.5(DOK7):c.757_772+3del
|
|
|
NM_173660.5(DOK7):c.810_811del (p.His272fs)
|
rs778227501
|
|
NM_173660.5(DOK7):c.852G>A (p.Trp284Ter)
|
|
|
NM_173660.5(DOK7):c.894dup (p.Pro299fs)
|
|
|
NM_173660.5(DOK7):c.925del (p.Glu309fs)
|
rs1182982672
|
|
NM_173660.5(DOK7):c.930_933del (p.Met311fs)
|
rs2109417343
|
|
NM_173660.5(DOK7):c.957del (p.Lys320fs)
|
rs794727884
|
|
NM_173660.5(DOK7):c.958A>T (p.Lys320Ter)
|
|
|
NM_173660.5(DOK7):c.978_1018del (p.Gln326fs)
|
rs2109417797
|
|
Single allele
|
|
|