ClinVar Miner

List of variants reported as pathogenic for congenital muscular dystrophy

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1550
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HGVS dbSNP gnomAD frequency
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

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