NM_000166.6(GJB1):c.*18C>G

rs0 
NM_000166.6(GJB1):c.261A>G (p.Pro87=)

rs376994837 
NM_000166.6(GJB1):c.30C>T (p.Leu10=)

rs183702021 
NM_000166.6(GJB1):c.441C>T (p.Ala147=)

rs765686240 
NM_000166.6(GJB1):c.462T>C (p.Tyr154=)

rs879254098 
NM_000166.6(GJB1):c.507C>T (p.Asp169=)

rs373334326 
NM_000166.6(GJB1):c.627G>T (p.Val209=)

rs376113695 
NM_000166.6(GJB1):c.807C>T (p.Thr269=)

rs750620543 
NM_000166.6(GJB1):c.830G>A (p.Ser277Asn)

rs748095080 
NM_000304.4(PMP22):c.152A>G (p.His51Arg)

rs368908933 
NM_000304.4(PMP22):c.178+7C>A

rs147885521 
NM_000304.4(PMP22):c.3204C>T

rs377467465 
NM_000304.4(PMP22):c.354G>T (p.Thr118=)

rs0 
NM_000304.4(PMP22):c.366G>A (p.Pro122=)

rs372723732 
NM_000304.4(PMP22):c.402C>T (p.Phe134=)

rs0 
NM_000304.4(PMP22):c.477C>T (p.Arg159=)

rs0 
NM_000304.4(PMP22):c.796C>T

rs201682989 
NM_000304.4(PMP22):c.87C>T (p.Ile29=)

rs201192820 
NM_000371.3(TTR):c.336+19G>A

rs75517067 
NM_000371.3(TTR):c.384C>T (p.Ala128=)

rs143906738 
NM_000371.3(TTR):c.7019G>A

rs548935944 
NM_000371.4(TTR):c.14G>A (p.Arg5His)

rs138657343 
NM_000371.4(TTR):c.2013T>C

rs0 
NM_000371.4(TTR):c.328C>A (p.His110Asn)

rs121918074 
NM_000371.4(TTR):c.33713T>C

rs762691667 
NM_000371.4(TTR):c.416C>T (p.Thr139Met)

rs28933981 
NM_000371.4(TTR):c.417G>A (p.Thr139=)

rs2276382 
NM_000371.4(TTR):c.75C>T (p.Thr25=)

rs0 
NM_000399.5(EGR2):c.1A>G

rs553201646 
NM_000399.5(EGR2):c.1242G>A (p.Lys414=)

rs554456422 
NM_000399.5(EGR2):c.1352G>A (p.Gly451Asp)

rs138967272 
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val)

rs138967272 
NM_000399.5(EGR2):c.1395G>A (p.Pro465=)

rs779811073 
NM_000399.5(EGR2):c.210G>A (p.Ser70=)

rs0 
NM_000399.5(EGR2):c.222A>C (p.Pro74=)

rs0 
NM_000399.5(EGR2):c.222A>G (p.Pro74=)

rs201068734 
NM_000399.5(EGR2):c.246C>G (p.Val82=)

rs144217451 
NM_000399.5(EGR2):c.645G>A (p.Thr215=)

rs0 
NM_000399.5(EGR2):c.774G>A (p.Val258=)

rs0 
NM_000399.5(EGR2):c.789T>C (p.Thr263=)

rs0 
NM_000399.5(EGR2):c.816C>A (p.Thr272=)

rs863224359 
NM_000399.5(EGR2):c.843C>T (p.Thr281=)

rs0 
NM_000530.8(MPZ):c.*1C>T

rs0 
NM_000530.8(MPZ):c.174C>T (p.Val58=)

rs0 
NM_000530.8(MPZ):c.24C>T (p.Ser8=)

rs144841836 
NM_000530.8(MPZ):c.42G>A (p.Leu14=)

rs0 
NM_000530.8(MPZ):c.504G>A (p.Val168=)

rs145592910 
NM_000530.8(MPZ):c.531C>T (p.Tyr177=)

rs0 
NM_000530.8(MPZ):c.645+10A>G

rs0 
NM_001007792.1(NTRK1):c.484+1G>A

rs1232901259 
NM_001136473.1(LITAF):c.146C>T (p.Thr49Met)

rs141862602 
NM_001136473.1(LITAF):c.22116C>T

rs0 
NM_001136473.1(LITAF):c.357C>T (p.Cys119=)

rs549492447 
NM_001136473.1(LITAF):c.377+3G>A

rs0 
NM_001136473.1(LITAF):c.6G>A (p.Ser2=)

rs147187481 
NM_001142386.3(PDK3):c.376A>G (p.Met126Val)

rs138321172 
NM_001142386.3(PDK3):c.75110A>G

rs372774822 
NM_001365951.3(KIF1B):c.10711T>G

rs0 
NM_001365951.3(KIF1B):c.10713T>C

rs0 
NM_001365951.3(KIF1B):c.1180+13A>G

rs0 
NM_001365951.3(KIF1B):c.1180+19G>A

rs0 
NM_001365951.3(KIF1B):c.14359C>T

rs0 
NM_001365951.3(KIF1B):c.16714T>C

rs0 
NM_001365951.3(KIF1B):c.1968T>C (p.Pro656=)

rs0 
NM_001365951.3(KIF1B):c.20434C>T

rs0 
NM_001365951.3(KIF1B):c.2358+9C>T

rs0 
NM_001365951.3(KIF1B):c.252C>T (p.His84=)

rs0 
NM_001365951.3(KIF1B):c.2537+15A>G

rs0 
NM_001365951.3(KIF1B):c.2727C>T (p.Pro909=)

rs200858074 
NM_001365951.3(KIF1B):c.2934T>G (p.Val978=)

rs749154726 
NM_001365951.3(KIF1B):c.3422+18T>C

rs0 
NM_001365951.3(KIF1B):c.3688+7_3688+8dup

rs0 
NM_001365951.3(KIF1B):c.379815G>A

rs0 
NM_001365951.3(KIF1B):c.3936T>C (p.Arg1312=)

rs0 
NM_001365951.3(KIF1B):c.430517T>A

rs0 
NM_001365951.3(KIF1B):c.4524C>T (p.Thr1508=)

rs373636782 
NM_001365951.3(KIF1B):c.4946+10C>T

rs0 
NM_001365951.3(KIF1B):c.494713C>G

rs0 
NM_001365951.3(KIF1B):c.509711G>T

rs0 
NM_001365951.3(KIF1B):c.50979C>T

rs376873833 
NM_001365951.3(KIF1B):c.522T>C (p.Leu174=)

rs0 
NM_001365951.3(KIF1B):c.540916C>T

rs0 
NM_001365951.3(KIF1B):c.606C>G (p.Ala202=)

rs0 
NM_001365951.3(KIF1B):c.608+14T>G

rs0 
NM_001365951.3(KIF1B):c.60910G>A

rs0 
NM_001365951.3(KIF1B):c.654C>T (p.His218=)

rs0 
NM_001365951.3(KIF1B):c.78C>T (p.Cys26=)

rs772548887 
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=)

rs80096622 
NM_001376.5(DYNC1H1):c.10083C>T (p.Asp3361=)

rs772665813 
NM_001376.5(DYNC1H1):c.10293C>T (p.Asn3431=)

rs75075497 
NM_001376.5(DYNC1H1):c.10401T>A (p.Ala3467=)

rs184264124 
NM_001376.5(DYNC1H1):c.1041413G>A

rs17541421 
NM_001376.5(DYNC1H1):c.10626+12G>A

rs0 
NM_001376.5(DYNC1H1):c.10626+7A>G

rs1427174553 
NM_001376.5(DYNC1H1):c.1062A>G (p.Arg354=)

rs0 
NM_001376.5(DYNC1H1):c.10754+10C>T

rs0 
NM_001376.5(DYNC1H1):c.10908+10G>A

rs201277756 
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=)

rs374214760 
NM_001376.5(DYNC1H1):c.10995G>A (p.Gly3665=)

rs0 
NM_001376.5(DYNC1H1):c.11016G>A (p.Ser3672=)

rs199679500 
NM_001376.5(DYNC1H1):c.11112C>T (p.Thr3704=)

rs0 
NM_001376.5(DYNC1H1):c.11400G>A (p.Gln3800=)

rs182767009 
NM_001376.5(DYNC1H1):c.11424C>T (p.Cys3808=)

rs0 
NM_001376.5(DYNC1H1):c.11595+20C>T

rs0 
NM_001376.5(DYNC1H1):c.1159620G>A

rs372623721 
NM_001376.5(DYNC1H1):c.11646C>G (p.Thr3882=)

rs0 
NM_001376.5(DYNC1H1):c.1173A>G (p.Gln391=)

rs17540735 
NM_001376.5(DYNC1H1):c.12075C>T (p.Leu4025=)

rs373636519 
NM_001376.5(DYNC1H1):c.12102+20C>T

rs0 
NM_001376.5(DYNC1H1):c.12102+6G>A

rs377669980 
NM_001376.5(DYNC1H1):c.1227617T>C

rs0 
NM_001376.5(DYNC1H1):c.123G>A (p.Leu41=)

rs1260546515 
NM_001376.5(DYNC1H1):c.12513+10T>G

rs17512839 
NM_001376.5(DYNC1H1):c.12513+17C>T

rs368189529 
NM_001376.5(DYNC1H1):c.12594A>T (p.Pro4198=)

rs143936619 
NM_001376.5(DYNC1H1):c.1299G>A (p.Leu433=)

rs1566997875 
NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=)

rs375767483 
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met)

rs149300055 
NM_001376.5(DYNC1H1):c.13218+18G>A

rs0 
NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=)

rs140033479 
NM_001376.5(DYNC1H1):c.13372+14C>T

rs0 
NM_001376.5(DYNC1H1):c.13404G>T (p.Thr4468=)

rs0 
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=)

rs150286673 
NM_001376.5(DYNC1H1):c.13515+9G>A

rs374678076 
NM_001376.5(DYNC1H1):c.1351618G>C

rs0 
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=)

rs138571942 
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=)

rs35079638 
NM_001376.5(DYNC1H1):c.13869C>T (p.Asp4623=)

rs0 
NM_001376.5(DYNC1H1):c.13899C>T (p.Arg4633=)

rs0 
NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=)

rs192959810 
NM_001376.5(DYNC1H1):c.1797G>A (p.Gly599=)

rs1022735666 
NM_001376.5(DYNC1H1):c.1860C>T (p.His620=)

rs749887344 
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=)

rs149902566 
NM_001376.5(DYNC1H1):c.2541G>A (p.Val847=)

rs1595601645 
NM_001376.5(DYNC1H1):c.261C>T (p.Asp87=)

rs75113705 
NM_001376.5(DYNC1H1):c.27196C>T

rs199763298 
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=)

rs114021657 
NM_001376.5(DYNC1H1):c.28693C>T

rs750614475 
NM_001376.5(DYNC1H1):c.3015+18C>G

rs2749894 
NM_001376.5(DYNC1H1):c.3378G>A (p.Glu1126=)

rs0 
NM_001376.5(DYNC1H1):c.3414C>T (p.Asn1138=)

rs772761222 
NM_001376.5(DYNC1H1):c.34510T>G

rs202110844 
NM_001376.5(DYNC1H1):c.3804+9C>T

rs377635872 
NM_001376.5(DYNC1H1):c.4074+11A>T

rs368040742 
NM_001376.5(DYNC1H1):c.409G>A (p.Val137Ile)

rs143421325 
NM_001376.5(DYNC1H1):c.4176T>C (p.Gly1392=)

rs112261870 
NM_001376.5(DYNC1H1):c.432G>A (p.Ser144=)

rs533327200 
NM_001376.5(DYNC1H1):c.438C>T (p.Tyr146=)

rs764884119 
NM_001376.5(DYNC1H1):c.4395+2C>T

rs192594531 
NM_001376.5(DYNC1H1):c.4509C>T (p.Ser1503=)

rs116089522 
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=)

rs186932188 
NM_001376.5(DYNC1H1):c.51917A>G

rs0 
NM_001376.5(DYNC1H1):c.5193dup

rs0 
NM_001376.5(DYNC1H1):c.5292C>T (p.Thr1764=)

rs0 
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=)

rs139919955 
NM_001376.5(DYNC1H1):c.5649C>T (p.Pro1883=)

rs0 
NM_001376.5(DYNC1H1):c.5668T>C (p.Leu1890=)

rs0 
NM_001376.5(DYNC1H1):c.5874C>T (p.Asp1958=)

rs142726284 
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=)

rs140841480 
NM_001376.5(DYNC1H1):c.622220C>A

rs200368499 
NM_001376.5(DYNC1H1):c.6240C>G (p.Leu2080=)

rs0 
NM_001376.5(DYNC1H1):c.6381T>C (p.Ile2127=)

rs759525537 
NM_001376.5(DYNC1H1):c.6535C>A (p.Arg2179=)

rs147905977 
NM_001376.5(DYNC1H1):c.661919G>A

rs747037096 
NM_001376.5(DYNC1H1):c.6762C>T (p.Ile2254=)

rs150603103 
NM_001376.5(DYNC1H1):c.6795C>T (p.Tyr2265=)

rs200339812 
NM_001376.5(DYNC1H1):c.7135C>T (p.Leu2379=)

rs0 
NM_001376.5(DYNC1H1):c.7179G>A (p.Glu2393=)

rs0 
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn)

rs150888094 
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=)

rs138407720 
NM_001376.5(DYNC1H1):c.7290C>T (p.Asn2430=)

rs112811548 
NM_001376.5(DYNC1H1):c.7296G>C (p.Leu2432=)

rs0 
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=)

rs754446530 
NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=)

rs0 
NM_001376.5(DYNC1H1):c.7587G>A (p.Ala2529=)

rs201720217 
NM_001376.5(DYNC1H1):c.7848+13G>A

rs0 
NM_001376.5(DYNC1H1):c.817819C>T

rs0 
NM_001376.5(DYNC1H1):c.8202G>A (p.Val2734=)

rs202023896 
NM_001376.5(DYNC1H1):c.8262C>T (p.Ala2754=)

rs0 
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=)

rs77113510 
NM_001376.5(DYNC1H1):c.8343+9_8343+10del

rs0 
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=)

rs117846737 
NM_001376.5(DYNC1H1):c.855A>G (p.Leu285=)

rs0 
NM_001376.5(DYNC1H1):c.8631G>A (p.Leu2877=)

rs0 
NM_001376.5(DYNC1H1):c.8637+9C>T

rs202042156 
NM_001376.5(DYNC1H1):c.86387dup

rs0 
NM_001376.5(DYNC1H1):c.877213C>T

rs0 
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=)

rs149753029 
NM_001376.5(DYNC1H1):c.9048+16G>A

rs0 
NM_001376.5(DYNC1H1):c.9072C>T (p.Asp3024=)

rs0 
NM_001376.5(DYNC1H1):c.9330A>G (p.Thr3110=)

rs371538443 
NM_001376.5(DYNC1H1):c.939C>T (p.Thr313=)

rs572233805 
NM_001376.5(DYNC1H1):c.9468+9A>G

rs0 
NM_001376.5(DYNC1H1):c.9471G>T (p.Ala3157=)

rs0 
NM_001376.5(DYNC1H1):c.9636C>G (p.Val3212=)

rs2295445 
NM_001376.5(DYNC1H1):c.9762+9T>G

rs376545350 
NM_001540.5(HSPB1):c.*20A>C

rs0 
NM_001540.5(HSPB1):c.19C>T

rs199602956 
NM_001540.5(HSPB1):c.5C>T

rs0 
NM_001540.5(HSPB1):c.110G>C (p.Arg37Pro)

rs0 
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser)

rs61751217 
NM_001540.5(HSPB1):c.364+6C>G

rs753061670 
NM_001540.5(HSPB1):c.364+9_364+20del

rs0 
NM_001540.5(HSPB1):c.3655dup

rs0 
NM_001540.5(HSPB1):c.3657C>G

rs201897299 
NM_001540.5(HSPB1):c.428+13G>T

rs0 
NM_001540.5(HSPB1):c.567C>T (p.Ala189=)

rs528301561 
NM_001540.5(HSPB1):c.573T>C (p.Leu191=)

rs34771861 
NM_001540.5(HSPB1):c.9G>A (p.Glu3=)

rs77586767 
NM_002047.4(GARS1):c.14A>G

rs0 
NM_002047.4(GARS1):c.1031+14T>G

rs189589556 
NM_002047.4(GARS1):c.103214G>A

rs0 
NM_002047.4(GARS1):c.1158C>T (p.Ser386=)

rs373576697 
NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys)

rs370057212 
NM_002047.4(GARS1):c.129G>T (p.Pro43=)

rs0 
NM_002047.4(GARS1):c.1420C>A (p.Arg474=)

rs113958280 
NM_002047.4(GARS1):c.16144G>C

rs376324026 
NM_002047.4(GARS1):c.1644A>G (p.Thr548=)

rs0 
NM_002047.4(GARS1):c.170013A>G

rs0 
NM_002047.4(GARS1):c.1716G>A (p.Pro572=)

rs370608239 
NM_002047.4(GARS1):c.1737C>T (p.Phe579=)

rs752464405 
NM_002047.4(GARS1):c.1743G>C (p.Leu581=)

rs370844461 
NM_002047.4(GARS1):c.1809+13G>A

rs0 
NM_002047.4(GARS1):c.1809+14T>C

rs367739730 
NM_002047.4(GARS1):c.1809+16C>T

rs0 
NM_002047.4(GARS1):c.1809+8G>C

rs0 
NM_002047.4(GARS1):c.190418T>C

rs41275991 
NM_002047.4(GARS1):c.190419C>T

rs0 
NM_002047.4(GARS1):c.190419del

rs745958570 
NM_002047.4(GARS1):c.1962C>T (p.Ile654=)

rs201927627 
NM_002047.4(GARS1):c.270C>T (p.Asp90=)

rs369898799 
NM_002047.4(GARS1):c.282A>G (p.Ala94=)

rs0 
NM_002047.4(GARS1):c.408A>G (p.Gln136=)

rs200279483 
NM_002047.4(GARS1):c.42817C>T

rs370452042 
NM_002047.4(GARS1):c.699C>T (p.Val233=)

rs187937286 
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile)

rs2230310 
NM_002047.4(GARS1):c.816A>G (p.Leu272=)

rs777128525 
NM_002047.4(GARS1):c.881+17G>A

rs0 
NM_002180.2(IGHMBP2):c.*6C>T

rs117995705 
NM_002180.2(IGHMBP2):c.1032G>A (p.Ser344=)

rs779452908 
NM_002180.2(IGHMBP2):c.1060+8G>T

rs201147313 
NM_002180.2(IGHMBP2):c.1064C>T (p.Ala355Val)

rs142062146 
NM_002180.2(IGHMBP2):c.1125C>T (p.Asp375=)

rs140296831 
NM_002180.2(IGHMBP2):c.1193C>T (p.Ala398Val)

rs35193202 
NM_002180.2(IGHMBP2):c.1290C>T (p.Tyr430=)

rs140654955 
NM_002180.2(IGHMBP2):c.1294G>A (p.Ala432Thr)

rs116012780 
NM_002180.2(IGHMBP2):c.132C>T (p.Gly44=)

rs78807992 
NM_002180.2(IGHMBP2):c.1418+11C>T

rs201279838 
NM_002180.2(IGHMBP2):c.151C>G (p.Gln51Glu)

rs117061430 
NM_002180.2(IGHMBP2):c.1551C>T (p.Leu517=)

rs150549628 
NM_002180.2(IGHMBP2):c.1596C>T (p.Ala532=)

rs988590959 
NM_002180.2(IGHMBP2):c.1603A>G (p.Ile535Val)

rs140221316 
NM_002180.2(IGHMBP2):c.1770T>C (p.Phe590=)

rs138997061 
NM_002180.2(IGHMBP2):c.1821C>T (p.His607=)

rs34658653 
NM_002180.2(IGHMBP2):c.2295C>T (p.His765=)

rs149185954 
NM_002180.2(IGHMBP2):c.2355G>A (p.Arg785=)

rs147954772 
NM_002180.2(IGHMBP2):c.2467C>T (p.Arg823Cys)

rs192806153 
NM_002180.2(IGHMBP2):c.2499G>A (p.Leu833=)

rs371840404 
NM_002180.2(IGHMBP2):c.2532G>T (p.Ala844=)

rs2228207 
NM_002180.2(IGHMBP2):c.2545G>A (p.Ala849Thr)

rs2228208 
NM_002180.2(IGHMBP2):c.261214C>T

rs200940488 
NM_002180.2(IGHMBP2):c.261215G>A

rs372230504 
NM_002180.2(IGHMBP2):c.261216C>T

rs200337900 
NM_002180.2(IGHMBP2):c.2619G>A (p.Pro873=)

rs373001247 
NM_002180.2(IGHMBP2):c.2691C>T (p.Cys897=)

rs146286133 
NM_002180.2(IGHMBP2):c.2730C>G (p.Gly910=)

rs139416105 
NM_002180.2(IGHMBP2):c.2793C>T (p.Gly931=)

rs139926138 
NM_002180.2(IGHMBP2):c.2836C>T (p.Arg946Trp)

rs373943338 
NM_002180.2(IGHMBP2):c.344C>T (p.Thr115Met)

rs181657861 
NM_002180.2(IGHMBP2):c.54810T>G

rs139207271 
NM_002180.2(IGHMBP2):c.54820C>T

rs368802434 
NM_002180.2(IGHMBP2):c.855G>A (p.Ala285=)

rs147409148 
NM_002180.2(IGHMBP2):c.8719A>G

rs183650590 
NM_002180.3(IGHMBP2):c.*18C>T

rs0 
NM_002180.3(IGHMBP2):c.106119G>A

rs0 
NM_002180.3(IGHMBP2):c.1479C>T (p.Thr493=)

rs370367228 
NM_002180.3(IGHMBP2):c.1537+9G>C

rs0 
NM_002180.3(IGHMBP2):c.153811_15388del

rs0 
NM_002180.3(IGHMBP2):c.153819G>A

rs0 
NM_002180.3(IGHMBP2):c.2070C>G (p.Ala690=)

rs0 
NM_002180.3(IGHMBP2):c.2544C>T (p.Pro848=)

rs746248057 
NM_002180.3(IGHMBP2):c.2670C>T (p.Ala890=)

rs0 
NM_002180.3(IGHMBP2):c.273G>T (p.Leu91=)

rs0 
NM_002180.3(IGHMBP2):c.2931G>C (p.Leu977=)

rs0 
NM_002180.3(IGHMBP2):c.406C>T (p.Leu136=)

rs0 
NM_002180.3(IGHMBP2):c.45013T>C

rs0 
NM_002180.3(IGHMBP2):c.54819G>A

rs0 
NM_002180.3(IGHMBP2):c.86+7G>C

rs527948004 
NM_004208.4(AIFM1):c.*20C>A

rs0 
NM_004208.4(AIFM1):c.1047C>T (p.Ser349=)

rs781350745 
NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=)

rs143792929 
NM_004208.4(AIFM1):c.157420G>T

rs0 
NM_004208.4(AIFM1):c.1782C>T (p.Asp594=)

rs0 
NM_004208.4(AIFM1):c.249+1258T>C

rs0 
NM_004208.4(AIFM1):c.273_274inv (p.Glu92Lys)

rs0 
NM_004208.4(AIFM1):c.72C>T (p.Cys24=)

rs373609902 
NM_004208.4(AIFM1):c.939C>T (p.Ser313=)

rs0 
NM_004637.5(RAB7A):c.180+9A>G

rs762831187 
NM_004637.5(RAB7A):c.183A>C (p.Ile61=)

rs376642691 
NM_004637.5(RAB7A):c.21G>A (p.Val7=)

rs140857794 
NM_004637.5(RAB7A):c.321C>T (p.Leu107=)

rs749227632 
NM_004637.5(RAB7A):c.87G>A (p.Val29=)

rs145441548 
NM_004637.6(RAB7A):c.40017C>G

rs0 
NM_004637.6(RAB7A):c.52911T>G

rs0 
NM_004990.4(MARS1):c.12945C>T

rs149946100 
NM_004990.4(MARS1):c.1368+15C>T

rs0 
NM_004990.4(MARS1):c.136914C>T

rs0 
NM_004990.4(MARS1):c.1731G>A (p.Leu577=)

rs0 
NM_004990.4(MARS1):c.2112C>T (p.Ala704=)

rs0 
NM_004990.4(MARS1):c.2163G>C (p.Val721=)

rs762587995 
NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln)

rs113808165 
NM_004990.4(MARS1):c.2391A>C (p.Thr797=)

rs140573721 
NM_004990.4(MARS1):c.23928T>A

rs0 
NM_004990.4(MARS1):c.2511C>G (p.Ala837=)

rs780483586 
NM_004990.4(MARS1):c.255712C>G

rs0 
NM_004990.4(MARS1):c.255713C>A

rs0 
NM_004990.4(MARS1):c.255713C>G

rs0 
NM_004990.4(MARS1):c.255714C>T

rs0 
NM_004990.4(MARS1):c.28013C>T

rs0 
NM_004990.4(MARS1):c.414+8G>A

rs0 
NM_004990.4(MARS1):c.4155C>A

rs747351446 
NM_004990.4(MARS1):c.617C>T (p.Pro206Leu)

rs138776588 
NM_004990.4(MARS1):c.663+11G>A

rs0 
NM_004990.4(MARS1):c.663+20C>T

rs0 
NM_004990.4(MARS1):c.77115C>G

rs201328384 
NM_004990.4(MARS1):c.792G>A (p.Arg264=)

rs141609469 
NM_004990.4(MARS1):c.887+17G>A

rs201259473 
NM_004990.4(MARS1):c.887+17G>C

rs0 
NM_004990.4(MARS1):c.901C>T (p.Arg301Cys)

rs139661803 
NM_005391.5(PDK3):c.24914T>G

rs0 
NM_005391.5(PDK3):c.2499dup

rs0 
NM_005391.5(PDK3):c.67411T>C

rs0 
NM_006096.3(NDRG1):c.1053_1082del (p.340_349TRSRSHTSEG[2])

rs751274009 
NM_006096.3(NDRG1):c.1134G>A (p.Ser378=)

rs750369546 
NM_006096.3(NDRG1):c.199A>G (p.Met67Val)

rs2233319 
NM_006096.3(NDRG1):c.31G>A (p.Ala11Thr)

rs145871479 
NM_006096.3(NDRG1):c.331A>C (p.Met111Leu)

rs2233328 
NM_006096.3(NDRG1):c.393G>A (p.Leu131=)

rs149767690 
NM_006096.3(NDRG1):c.789G>A (p.Ser263=)

rs61755062 
NM_006096.3(NDRG1):c.861G>A (p.Ala287=)

rs150101908 
NM_006096.3(NDRG1):c.879G>A (p.Pro293=)

rs2233340 
NM_006096.3(NDRG1):c.94413C>T

rs753312340 
NM_006096.3(NDRG1):c.973C>A (p.Arg325=)

rs141078746 
NM_006096.4(NDRG1):c.182_181del

rs0 
NM_006096.4(NDRG1):c.1003C>T

rs0 
NM_006096.4(NDRG1):c.1053A>C (p.Arg351=)

rs0 
NM_006096.4(NDRG1):c.1062C>G (p.Ser354=)

rs0 
NM_006096.4(NDRG1):c.20617T>G

rs0 
NM_006096.4(NDRG1):c.389+13G>C

rs0 
NM_006096.4(NDRG1):c.594+9C>T

rs373172944 
NM_006096.4(NDRG1):c.69916C>G

rs0 
NM_006096.4(NDRG1):c.72C>T (p.Thr24=)

rs0 
NM_006096.4(NDRG1):c.75613T>C

rs0 
NM_006096.4(NDRG1):c.7565_7564delinsTG

rs0 
NM_006096.4(NDRG1):c.766C>T (p.Leu256=)

rs0 
NM_006096.4(NDRG1):c.8569C>T

rs772996128 
NM_006096.4(NDRG1):c.89211G>A

rs0 
NM_006158.4(NEFL):c.1006C>G (p.Leu336Val)

rs551896980 
NM_006158.4(NEFL):c.1212C>T (p.Ser404=)

rs60547413 
NM_006158.4(NEFL):c.1402G>A (p.Asp468Asn)

rs57153321 
NM_006158.4(NEFL):c.227T>C (p.Val76Ala)

rs58907919 
NM_006158.4(NEFL):c.321C>G (p.Arg107=)

rs1198042093 
NM_006158.4(NEFL):c.423G>A (p.Gln141=)

rs59161567 
NM_006158.4(NEFL):c.582A>C (p.Glu194Asp)

rs532240912 
NM_006158.4(NEFL):c.639C>G (p.Ile213Met)

rs62636522 
NM_006158.4(NEFL):c.855C>T (p.Thr285=)

rs1065083 
NM_006158.5(NEFL):c.1086G>A (p.Lys362=)

rs0 
NM_006158.5(NEFL):c.1169+14G>A

rs0 
NM_006158.5(NEFL):c.117019C>T

rs0 
NM_006158.5(NEFL):c.1611A>G (p.Gln537=)

rs0 
NM_006158.5(NEFL):c.420G>A (p.Glu140=)

rs1586128713 
NM_006158.5(NEFL):c.612C>T (p.Leu204=)

rs0 
NM_006158.5(NEFL):c.630G>A (p.Glu210=)

rs0 
NM_006158.5(NEFL):c.678G>T (p.Val226=)

rs0 
NM_006158.5(NEFL):c.86T>C (p.Val29Ala)

rs0 
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala)

rs119482084 
NM_006415.4(SPTLC1):c.1254+8del

rs0 
NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile)

rs141292904 
NM_006415.4(SPTLC1):c.387C>T (p.Gly129=)

rs141265918 
NM_006415.4(SPTLC1):c.483C>T (p.Ala161=)

rs0 
NM_006415.4(SPTLC1):c.560+16G>A

rs73512337 
NM_006415.4(SPTLC1):c.5819G>C

rs0 
NM_006415.4(SPTLC1):c.795C>T (p.Tyr265=)

rs150756641 
NM_006415.4(SPTLC1):c.993C>T (p.Ser331=)

rs0 
NM_006736.6(DNAJB2):c.*17G>T

rs0 
NM_006736.6(DNAJB2):c.195C>T (p.Tyr65=)

rs116719245 
NM_006736.6(DNAJB2):c.249A>G (p.Ala83=)

rs576058376 
NM_006736.6(DNAJB2):c.264T>C (p.Gly88=)

rs0 
NM_006736.6(DNAJB2):c.298G>A (p.Glu100Lys)

rs139406455 
NM_006736.6(DNAJB2):c.352+20C>G

rs0 
NM_006736.6(DNAJB2):c.3539T>G

rs0 
NM_006736.6(DNAJB2):c.444C>T (p.Ser148=)

rs0 
NM_006736.6(DNAJB2):c.44617C>G

rs0 
NM_006736.6(DNAJB2):c.62019G>A

rs0 
NM_006736.6(DNAJB2):c.703C>G (p.Gln235Glu)

rs148615702 
NM_006736.6(DNAJB2):c.759G>A (p.Glu253=)

rs775630178 
NM_006736.6(DNAJB2):c.787C>T (p.Leu263=)

rs140805390 
NM_006736.6(DNAJB2):c.966C>G (p.Leu322=)

rs0 
NM_014845.5(FIG4):c.*14C>T

rs114136062 
NM_014845.5(FIG4):c.1090A>T (p.Met364Leu)

rs2295837 
NM_014845.5(FIG4):c.1271+5A>G

rs374583399 
NM_014845.5(FIG4):c.127210C>G

rs201293291 
NM_014845.5(FIG4):c.1305G>C (p.Val435=)

rs145227623 
NM_014845.5(FIG4):c.15848T>A

rs199522051 
NM_014845.5(FIG4):c.1809G>A (p.Gly603=)

rs148280593 
NM_014845.5(FIG4):c.1863C>A (p.Thr621=)

rs201744761 
NM_014845.5(FIG4):c.194915C>T

rs778444771 
NM_014845.5(FIG4):c.209710C>G

rs142482745 
NM_014845.5(FIG4):c.2154A>G (p.Pro718=)

rs201138266 
NM_014845.5(FIG4):c.2459+7T>G

rs575271308 
NM_014845.5(FIG4):c.25475T>G

rs200267243 
NM_014845.5(FIG4):c.300G>A (p.Arg100=)

rs368831195 
NM_014845.5(FIG4):c.33G>C (p.Ser11=)

rs527523781 
NM_014845.5(FIG4):c.446+9G>A

rs190287033 
NM_014845.5(FIG4):c.66+10C>T

rs200063827 
NM_014845.5(FIG4):c.808A>G (p.Thr270Ala)

rs61729092 
NM_014845.5(FIG4):c.918C>T (p.Cys306=)

rs369159531 
NM_014845.6(FIG4):c.105A>G (p.Lys35=)

rs0 
NM_014845.6(FIG4):c.127210C>T

rs201293291 
NM_014845.6(FIG4):c.1341T>C (p.Phe447=)

rs0 
NM_014845.6(FIG4):c.1356T>C (p.Asp452=)

rs0 
NM_014845.6(FIG4):c.1536G>T (p.Leu512=)

rs0 
NM_014845.6(FIG4):c.1750+11A>C

rs0 
NM_014845.6(FIG4):c.209710C>T

rs142482745 
NM_014845.6(FIG4):c.2180+20C>T

rs0 
NM_014845.6(FIG4):c.2241G>A (p.Pro747=)

rs148589135 
NM_014845.6(FIG4):c.2319T>C (p.Ser773=)

rs0 
NM_014845.6(FIG4):c.237718T>C

rs0 
NM_014845.6(FIG4):c.237720_237719insCT

rs0 
NM_014845.6(FIG4):c.252G>A (p.Ser84=)

rs0 
NM_014845.6(FIG4):c.289+17C>T

rs0 
NM_014845.6(FIG4):c.42G>A (p.Lys14=)

rs552856153 
NM_014845.6(FIG4):c.44716delinsTT

rs0 
NM_014845.6(FIG4):c.66+18G>A

rs0 
NM_014845.6(FIG4):c.744G>A (p.Leu248=)

rs0 
NM_014874.3(MFN2):c.*15G>A

rs141339523 
NM_014874.3(MFN2):c.413G>T

rs373679523 
NM_014874.3(MFN2):c.1269G>A (p.Thr423=)

rs145994616 
NM_014874.3(MFN2):c.1403G>A (p.Arg468His)

rs138382758 
NM_014874.3(MFN2):c.1452G>A (p.Thr484=)

rs150043585 
NM_014874.3(MFN2):c.150C>A (p.Ile50=)

rs78841746 
NM_014874.3(MFN2):c.1641C>T (p.Leu547=)

rs140924661 
NM_014874.3(MFN2):c.165C>T (p.Thr55=)

rs77458527 
NM_014874.3(MFN2):c.1724G>A (p.Arg575His)

rs564375950 
NM_014874.3(MFN2):c.1806C>T (p.Ser602=)

rs201258935 
NM_014874.3(MFN2):c.1827C>T (p.Ser609=)

rs138724074 
NM_014874.3(MFN2):c.1920C>G (p.Leu640=)

rs141468012 
NM_014874.3(MFN2):c.2112C>T (p.Asp704=)

rs374371748 
NM_014874.3(MFN2):c.2157G>A (p.Lys719=)

rs148441213 
NM_014874.3(MFN2):c.408A>T (p.Val136=)

rs78814413 
NM_014874.3(MFN2):c.444C>T (p.Thr148=)

rs373038884 
NM_014874.3(MFN2):c.564C>T (p.Cys188=)

rs536007087 
NM_014874.3(MFN2):c.723C>T (p.Phe241=)

rs764912025 
NM_014874.3(MFN2):c.756C>T (p.Asn252=)

rs137960129 
NM_014874.3(MFN2):c.809T>C (p.Met270Thr)

rs771996573 
NM_014874.3(MFN2):c.870C>T (p.Gly290=)

rs368302487 
NM_014874.3(MFN2):c.891C>T (p.Ala297=)

rs11554508 
NM_014874.3(MFN2):c.892G>A (p.Gly298Arg)

rs41278630 
NM_014874.4(MFN2):c.1476C>T (p.Thr492=)

rs0 
NM_014874.4(MFN2):c.1495+10del

rs0 
NM_014874.4(MFN2):c.1529G>A (p.Arg510Gln)

rs376598131 
NM_014874.4(MFN2):c.171712T>G

rs0 
NM_014874.4(MFN2):c.171715T>C

rs0 
NM_014874.4(MFN2):c.1815C>T (p.Thr605=)

rs751029047 
NM_014874.4(MFN2):c.2028C>T (p.Val676=)

rs0 
NM_014874.4(MFN2):c.2069+18A>G

rs0 
NM_014874.4(MFN2):c.207011C>T

rs0 
NM_014874.4(MFN2):c.20708C>T

rs0 
NM_014874.4(MFN2):c.2130G>A (p.Leu710=)

rs0 
NM_014874.4(MFN2):c.318C>T (p.Ser106=)

rs0 
NM_014874.4(MFN2):c.708+10C>T

rs0 
NM_015074.3(KIF1B):c.*2T>C

rs148690591 
NM_015074.3(KIF1B):c.1419T>C (p.Asp473=)

rs146364486 
NM_015074.3(KIF1B):c.190510_19059del

rs58344165 
NM_015074.3(KIF1B):c.2107T>C (p.Trp703Arg)

rs551543997 
NM_015074.3(KIF1B):c.2466C>T (p.Asp822=)

rs145846362 
NM_015074.3(KIF1B):c.2736C>T (p.Asp912=)

rs150831576 
NM_015074.3(KIF1B):c.2847C>T (p.Ile949=)

rs150904940 
NM_015074.3(KIF1B):c.3121+9A>G

rs149566646 
NM_015074.3(KIF1B):c.3497C>T (p.Pro1166Leu)

rs141224290 
NM_015074.3(KIF1B):c.3498G>A (p.Pro1166=)

rs140229905 
NM_015074.3(KIF1B):c.3726+6A>C

rs114266141 
NM_015074.3(KIF1B):c.4530C>T (p.Ser1510=)

rs765541693 
NM_015074.3(KIF1B):c.46159C>T

rs375366137 
NM_015074.3(KIF1B):c.4882G>A (p.Glu1628Lys)

rs143669846 
NM_016156.5(MTMR2):c.1386A>G (p.Leu462=)

rs139369561 
NM_016156.5(MTMR2):c.1741A>G (p.Ile581Val)

rs149476960 
NM_016156.5(MTMR2):c.1770+7_1770+19delinsC

rs1555056865 
NM_016156.5(MTMR2):c.1855T>C (p.Ser619Pro)

rs116750638 
NM_016156.5(MTMR2):c.186+9A>G

rs371081575 
NM_016156.5(MTMR2):c.1862G>A (p.Arg621Gln)

rs371925152 
NM_016156.5(MTMR2):c.240A>C (p.Pro80=)

rs201920176 
NM_016156.5(MTMR2):c.279T>C (p.Tyr93=)

rs372937811 
NM_016156.5(MTMR2):c.297C>T (p.Gly99=)

rs772347980 
NM_016156.6(MTMR2):c.16C>T

rs0 
NM_016156.6(MTMR2):c.138719T>G

rs0 
NM_016156.6(MTMR2):c.159420C>A

rs0 
NM_016156.6(MTMR2):c.35839_35816del

rs0 
NM_016156.6(MTMR2):c.35842_35818del

rs0 
NM_016156.6(MTMR2):c.654+5G>A

rs0 
NM_016156.6(MTMR2):c.65519T>C

rs0 
NM_016156.6(MTMR2):c.684A>G (p.Thr228=)

rs0 
NM_018972.4(GDAP1):c.19C>T

rs0 
NM_018972.4(GDAP1):c.117+12C>G

rs202059380 
NM_018972.4(GDAP1):c.11816G>A

rs0 
NM_018972.4(GDAP1):c.123C>T (p.Arg41=)

rs0 
NM_018972.4(GDAP1):c.3117A>G

rs0 
NM_018972.4(GDAP1):c.492T>C (p.Ile164=)

rs0 
NM_018972.4(GDAP1):c.609G>A (p.Lys203=)

rs0 
NM_018972.4(GDAP1):c.693A>T (p.Pro231=)

rs181157785 
NM_018972.4(GDAP1):c.720C>T (p.Cys240=)

rs367790253 
NM_018972.4(GDAP1):c.75G>A (p.Lys25=)

rs0 
NM_018972.4(GDAP1):c.840C>T (p.Tyr280=)

rs374624466 
NM_018972.4(GDAP1):c.894T>C (p.Asn298=)

rs0 
NM_018972.4(GDAP1):c.90T>C (p.His30=)

rs555369956 
NM_020956.2(PRX):c.*1028C>A

rs200033507 
NM_020956.2(PRX):c.*1198G>A

rs146323928 
NM_020956.2(PRX):c.*1334G>T

rs754081921 
NM_020956.2(PRX):c.*1486C>T

rs76960467 
NM_020956.2(PRX):c.*1705A>G

rs777104457 
NM_020956.2(PRX):c.*1779T>C

rs149715830 
NM_020956.2(PRX):c.*1783G>A

rs567690884 
NM_020956.2(PRX):c.*1830G>A

rs139586219 
NM_020956.2(PRX):c.*1856G>A

rs61733448 
NM_020956.2(PRX):c.*2032C>T

rs751816156 
NM_020956.2(PRX):c.*2169C>T

rs118003416 
NM_020956.2(PRX):c.*2248C>T

rs56743160 
NM_020956.2(PRX):c.*2306G>A

rs116855701 
NM_020956.2(PRX):c.*2459G>A

rs147587689 
NM_020956.2(PRX):c.*2512G>A

rs148655811 
NM_020956.2(PRX):c.*2846C>A

rs375201649 
NM_020956.2(PRX):c.*2980C>T

rs201792838 
NM_020956.2(PRX):c.*3578G>A

rs148939995 
NM_020956.2(PRX):c.*3701C>T

rs147826200 
NM_020956.2(PRX):c.*3907C>T

rs139950446 
NM_020956.2(PRX):c.*3913G>A

rs202119177 
NM_020956.2(PRX):c.*4007G>C

rs146061247 
NM_020956.2(PRX):c.*4036C>G

rs577796628 
NM_020956.2(PRX):c.*4051G>A

rs143289108 
NM_020956.2(PRX):c.*4144G>A

rs140109585 
NM_020956.2(PRX):c.*4152C>T

rs142762689 
NM_020956.2(PRX):c.*4249G>C

rs76088917 
NM_020956.2(PRX):c.*4264_*4266GGA[5]

rs139624657 
NM_020956.2(PRX):c.*650G>A

rs142436391 
NM_020956.2(PRX):c.*745G>A

rs371243093 
NM_020956.2(PRX):c.*759G>A

rs76756143 
NM_020956.2(PRX):c.*802C>T

rs144157275 
NM_020956.2(PRX):c.*847C>A

rs551628239 
NM_020956.2(PRX):c.*952C>T

rs3814289 
NM_020956.2(PRX):c.*999G>T

rs374837022 
NM_020956.2(PRX):c.20A>C

rs780315081 
NM_020956.2(PRX):c.336G>A (p.Val112=)

rs369268369 
NM_021625.4(TRPV4):c.1278G>A (p.Thr426=)

rs139179261 
NM_021625.4(TRPV4):c.1308C>T (p.Ile436=)

rs141244183 
NM_021625.4(TRPV4):c.1464C>T (p.Thr488=)

rs146841400 
NM_021625.4(TRPV4):c.1491+10C>T

rs201815805 
NM_021625.4(TRPV4):c.1539C>T (p.Gly513=)

rs141295418 
NM_021625.4(TRPV4):c.1546A>G (p.Ile516Val)

rs115976458 
NM_021625.4(TRPV4):c.1584+12G>T

rs375908611 
NM_021625.4(TRPV4):c.1656del (p.Tyr553fs)

rs541606391 
NM_021625.4(TRPV4):c.1658+15C>T

rs200083069 
NM_021625.4(TRPV4):c.1824+4C>T

rs147259744 
NM_021625.4(TRPV4):c.182515C>G

rs200602134 
NM_021625.4(TRPV4):c.182515C>T

rs200602134 
NM_021625.4(TRPV4):c.1899C>T (p.Val633=)

rs753027239 
NM_021625.4(TRPV4):c.1913C>T (p.Pro638Leu)

rs35058636 
NM_021625.4(TRPV4):c.2043C>T (p.Gly681=)

rs375633647 
NM_021625.4(TRPV4):c.2248G>A (p.Val750Ile)

rs148171058 
NM_021625.4(TRPV4):c.2304G>C (p.Ser768=)

rs138986228 
NM_021625.4(TRPV4):c.2472G>A (p.Ser824=)

rs149988106 
NM_021625.4(TRPV4):c.2498A>G (p.Asn833Ser)

rs116035946 
NM_021625.4(TRPV4):c.2517C>T (p.Asp839=)

rs546957932 
NM_021625.4(TRPV4):c.28G>C (p.Ala10Pro)

rs376436045 
NM_021625.4(TRPV4):c.549G>A (p.Glu183=)

rs141908793 
NM_021625.4(TRPV4):c.712+10C>T

rs115657305 
NM_021625.4(TRPV4):c.760G>A (p.Val254Met)

rs143548402 
NM_021625.4(TRPV4):c.769C>G (p.Leu257Val)

rs56217500 
NM_021625.4(TRPV4):c.8544G>A

rs371733585 
NM_021625.4(TRPV4):c.903C>G (p.Val301=)

rs748103823 
NM_021625.4(TRPV4):c.936G>A (p.Ala312=)

rs202084699 
NM_021625.5(TRPV4):c.1152+12G>T

rs0 
NM_021625.5(TRPV4):c.1152+15dup

rs0 
NM_021625.5(TRPV4):c.1404C>T (p.Ala468=)

rs138301077 
NM_021625.5(TRPV4):c.149217C>T

rs0 
NM_021625.5(TRPV4):c.158515C>A

rs0 
NM_021625.5(TRPV4):c.1824+14G>A

rs0 
NM_021625.5(TRPV4):c.1824+5G>A

rs0 
NM_021625.5(TRPV4):c.1827T>A (p.Ile609=)

rs757493897 
NM_021625.5(TRPV4):c.1977G>A (p.Ser659=)

rs0 
NM_021625.5(TRPV4):c.2092C>T (p.Leu698=)

rs774321681 
NM_021625.5(TRPV4):c.2157C>T (p.Gly719=)

rs0 
NM_021625.5(TRPV4):c.2336+10G>C

rs0 
NM_021625.5(TRPV4):c.2349G>C (p.Val783=)

rs0 
NM_021625.5(TRPV4):c.2610G>A (p.Pro870=)

rs0 
NM_021625.5(TRPV4):c.396G>T (p.Pro132=)

rs0 
NM_021625.5(TRPV4):c.615C>A (p.Gly205=)

rs0 
NM_021625.5(TRPV4):c.732C>T (p.Ile244=)

rs142647385 
NM_021625.5(TRPV4):c.760G>C (p.Val254Leu)

rs143548402 
NM_021625.5(TRPV4):c.834G>A (p.Glu278=)

rs0 
NM_024577.3(SH3TC2):c.1017C>T (p.Ala339=)

rs201779392 
NM_024577.3(SH3TC2):c.1177+10G>A

rs139257109 
NM_024577.3(SH3TC2):c.1299G>A (p.Ser433=)

rs140904010 
NM_024577.3(SH3TC2):c.137A>C (p.Gln46Pro)

rs146162276 
NM_024577.3(SH3TC2):c.1403C>T (p.Ala468Val)

rs6874630 
NM_024577.3(SH3TC2):c.1443C>T (p.Asp481=)

rs146666910 
NM_024577.3(SH3TC2):c.1482C>T (p.Leu494=)

rs200665714 
NM_024577.3(SH3TC2):c.1767C>T (p.Ser589=)

rs139898175 
NM_024577.3(SH3TC2):c.1814G>A (p.Arg605His)

rs186864272 
NM_024577.3(SH3TC2):c.1839C>T (p.Leu613=)

rs182893450 
NM_024577.3(SH3TC2):c.1842C>T (p.Asp614=)

rs138411915 
NM_024577.3(SH3TC2):c.2304C>T (p.Leu768=)

rs140829706 
NM_024577.3(SH3TC2):c.2385C>T (p.Ser795=)

rs145345364 
NM_024577.3(SH3TC2):c.238G>A (p.Ala80Thr)

rs112507765 
NM_024577.3(SH3TC2):c.2691C>G (p.Asn897Lys)

rs73795753 
NM_024577.3(SH3TC2):c.2805C>T

rs201937366 
NM_024577.3(SH3TC2):c.287318T>C

rs113514936 
NM_024577.3(SH3TC2):c.2913C>T (p.Ser971=)

rs13436308 
NM_024577.3(SH3TC2):c.3294C>T (p.Thr1098=)

rs193067884 
NM_024577.3(SH3TC2):c.3315G>A (p.Val1105=)

rs375970910 
NM_024577.3(SH3TC2):c.3362C>T (p.Ala1121Val)

rs115577291 
NM_024577.3(SH3TC2):c.34798A>G

rs147800229 
NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val)

rs146920285 
NM_024577.3(SH3TC2):c.3723G>A (p.Ala1241=)

rs777895612 
NM_024577.3(SH3TC2):c.3795G>C (p.Leu1265=)

rs144873879 
NM_024577.3(SH3TC2):c.3813C>T (p.Ser1271=)

rs140985600 
NM_024577.3(SH3TC2):c.3834G>A (p.Ala1278=)

rs117804174 
NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His)

rs80359890 
NM_024577.3(SH3TC2):c.529+8T>A

rs780594631 
NM_024577.3(SH3TC2):c.549C>T (p.Ala183=)

rs147013935 
NM_024577.3(SH3TC2):c.558C>T (p.Ser186=)

rs141289653 
NM_024577.3(SH3TC2):c.894C>T (p.Ile298=)

rs779808918 
NM_024577.4(SH3TC2):c.10028C>T

rs748766254 
NM_024577.4(SH3TC2):c.113612A>G

rs0 
NM_024577.4(SH3TC2):c.1177+18T>A

rs0 
NM_024577.4(SH3TC2):c.1584C>G (p.Ala528=)

rs0 
NM_024577.4(SH3TC2):c.1623G>A (p.Lys541=)

rs372749343 
NM_024577.4(SH3TC2):c.1890G>A (p.Pro630=)

rs0 
NM_024577.4(SH3TC2):c.2184C>A (p.Gly728=)

rs0 
NM_024577.4(SH3TC2):c.2535A>C (p.Ala845=)

rs0 
NM_024577.4(SH3TC2):c.2718T>C (p.Tyr906=)

rs0 
NM_024577.4(SH3TC2):c.2804G>A

rs0 
NM_024577.4(SH3TC2):c.287316C>T

rs0 
NM_024577.4(SH3TC2):c.287317C>T

rs0 
NM_024577.4(SH3TC2):c.347920C>T

rs0 
NM_024577.4(SH3TC2):c.3522A>G (p.Thr1174=)

rs762263591 
NM_024577.4(SH3TC2):c.3531C>T (p.Tyr1177=)

rs0 
NM_024577.4(SH3TC2):c.52+4A>G

rs0 
NM_024577.4(SH3TC2):c.5317del

rs0 
NM_024577.4(SH3TC2):c.543C>T (p.Cys181=)

rs371302639 
NM_024577.4(SH3TC2):c.660G>C (p.Val220=)

rs202052720 
NM_024577.4(SH3TC2):c.687G>C (p.Leu229=)

rs0 
NM_024577.4(SH3TC2):c.731+17C>A

rs0 
NM_024577.4(SH3TC2):c.945A>G (p.Ser315=)

rs0 
NM_030962.3(SBF2):c.129713T>C

rs0 
NM_030962.3(SBF2):c.1368G>A (p.Arg456=)

rs0 
NM_030962.3(SBF2):c.14222dup

rs0 
NM_030962.3(SBF2):c.1509A>G (p.Glu503=)

rs143773975 
NM_030962.3(SBF2):c.160120T>C

rs0 
NM_030962.3(SBF2):c.1623G>A (p.Thr541=)

rs184849947 
NM_030962.3(SBF2):c.17119T>C

rs0 
NM_030962.3(SBF2):c.1812C>T (p.Asp604=)

rs765658939 
NM_030962.3(SBF2):c.1854T>G (p.Thr618=)

rs1224103000 
NM_030962.3(SBF2):c.2109T>C (p.Leu703=)

rs0 
NM_030962.3(SBF2):c.2319G>A (p.Ala773=)

rs201547070 
NM_030962.3(SBF2):c.2323G>A (p.Gly775Ser)

rs141330687 
NM_030962.3(SBF2):c.2536+16A>T

rs0 
NM_030962.3(SBF2):c.2598G>A (p.Pro866=)

rs376372877 
NM_030962.3(SBF2):c.261135AATC[6]

rs202029370 
NM_030962.3(SBF2):c.2619T>C (p.Ile873=)

rs0 
NM_030962.3(SBF2):c.2805T>C

rs368118378 
NM_030962.3(SBF2):c.3450C>T (p.Cys1150=)

rs377608130 
NM_030962.3(SBF2):c.345622_345618del

rs0 
NM_030962.3(SBF2):c.3819C>T (p.Ser1273=)

rs145351367 
NM_030962.3(SBF2):c.3843A>G (p.Thr1281=)

rs147597665 
NM_030962.3(SBF2):c.3969G>A (p.Ser1323=)

rs77833016 
NM_030962.3(SBF2):c.40315T>G

rs887143579 
NM_030962.3(SBF2):c.4096C>T (p.Pro1366Ser)

rs115927577 
NM_030962.3(SBF2):c.4101T>G (p.Thr1367=)

rs0 
NM_030962.3(SBF2):c.4111G>C (p.Val1371Leu)

rs149501654 
NM_030962.3(SBF2):c.4290C>T (p.Pro1430=)

rs0 
NM_030962.3(SBF2):c.4539C>T (p.Leu1513=)

rs0 
NM_030962.3(SBF2):c.4635T>A (p.Ile1545=)

rs0 
NM_030962.3(SBF2):c.4687T>C (p.Leu1563=)

rs563878786 
NM_030962.3(SBF2):c.4758G>A (p.Glu1586=)

rs0 
NM_030962.3(SBF2):c.4809C>T (p.His1603=)

rs199670153 
NM_030962.3(SBF2):c.5007G>A (p.Val1669=)

rs918725972 
NM_030962.3(SBF2):c.5037C>T (p.Arg1679=)

rs200784979 
NM_030962.3(SBF2):c.50389C>G

rs0 
NM_030962.3(SBF2):c.5043A>G (p.Gln1681=)

rs0 
NM_030962.3(SBF2):c.5058A>T (p.Arg1686Ser)

rs146230559 
NM_030962.3(SBF2):c.513+18A>T

rs201201683 
NM_030962.3(SBF2):c.5231+14C>T

rs371184526 
NM_030962.3(SBF2):c.5277T>G (p.Gly1759=)

rs0 
NM_030962.3(SBF2):c.5451+8G>C

rs0 
NM_030962.3(SBF2):c.54523T>C

rs0 
NM_030962.3(SBF2):c.5526C>A (p.Ile1842=)

rs376788960 
NM_030962.3(SBF2):c.705T>C (p.Ser235=)

rs143209062 
NM_030962.3(SBF2):c.75316T>C

rs7128234 
NM_030962.3(SBF2):c.777G>A (p.Pro259=)

rs142261202 
NM_030962.3(SBF2):c.78A>G (p.Lys26=)

rs0 
NM_030962.3(SBF2):c.861+9T>A

rs0 
NM_030962.3(SBF2):c.946C>T (p.Leu316=)

rs374841593 
NM_030962.3(SBF2):c.948A>C (p.Leu316=)

rs0 
NM_030973.3(MED25):c.1004C>T (p.Ala335Val)

rs145770066 
NM_030973.3(MED25):c.1062C>T (p.Ser354=)

rs140345077 
NM_030973.3(MED25):c.1227A>G (p.Gln409=)

rs769851706 
NM_030973.3(MED25):c.1374+9C>T

rs574703435 
NM_030973.3(MED25):c.1377C>T (p.Thr459=)

rs374928221 
NM_030973.3(MED25):c.1434G>A (p.Lys478=)

rs181389801 
NM_030973.3(MED25):c.151C>T (p.Pro51Ser)

rs147869920 
NM_030973.3(MED25):c.1572C>T (p.Gly524=)

rs559482732 
NM_030973.3(MED25):c.2046G>A (p.Pro682=)

rs755620011 
NM_030973.3(MED25):c.2056C>T (p.Leu686=)

rs201969940 
NM_030973.3(MED25):c.228C>T (p.Cys76=)

rs770196362 
NM_030973.3(MED25):c.354C>T (p.Leu118=)

rs145574885 
NM_030973.3(MED25):c.396C>T (p.Arg132=)

rs142353864 
NM_030973.3(MED25):c.597C>A (p.Ala199=)

rs149788020 
NM_030973.3(MED25):c.664C>T (p.Leu222=)

rs147538736 
NM_030973.3(MED25):c.6893C>T

rs199623358 
NM_030973.3(MED25):c.689T>C (p.Val230Ala)

rs199982073 
NM_030973.3(MED25):c.819+14C>T

rs188257265 
NM_030973.3(MED25):c.93C>T (p.Tyr31=)

rs61742955 
NM_030973.4(MED25):c.1044C>T (p.Ser348=)

rs0 
NM_030973.4(MED25):c.110211C>G

rs0 
NM_030973.4(MED25):c.131716del

rs0 
NM_030973.4(MED25):c.134+19A>G

rs0 
NM_030973.4(MED25):c.134+20C>T

rs0 
NM_030973.4(MED25):c.1369C>T (p.Leu457=)

rs0 
NM_030973.4(MED25):c.1482+17G>A

rs0 
NM_030973.4(MED25):c.1533C>T (p.Leu511=)

rs0 
NM_030973.4(MED25):c.167518C>T

rs0 
NM_030973.4(MED25):c.168C>T (p.Asp56=)

rs0 
NM_030973.4(MED25):c.174719_174718del

rs0 
NM_030973.4(MED25):c.1764G>A (p.Pro588=)

rs0 
NM_030973.4(MED25):c.186G>A (p.Gly62=)

rs0 
NM_030973.4(MED25):c.19665C>T

rs0 
NM_030973.4(MED25):c.2037G>A (p.Leu679=)

rs0 
NM_030973.4(MED25):c.2146+19G>T

rs0 
NM_030973.4(MED25):c.2146+6G>A

rs0 
NM_030973.4(MED25):c.305+17T>G

rs0 
NM_030973.4(MED25):c.558G>A (p.Arg186=)

rs0 
NM_030973.4(MED25):c.580C>T (p.Leu194=)

rs0 
NM_030973.4(MED25):c.688+17G>A

rs0 
NM_138361.5(LRSAM1):c.1026_1027delinsTT (p.Leu342_Leu343=)

rs1554757292 
NM_138361.5(LRSAM1):c.104420T>C

rs0 
NM_138361.5(LRSAM1):c.1083T>C (p.Asn361=)

rs0 
NM_138361.5(LRSAM1):c.11607C>T

rs377144291 
NM_138361.5(LRSAM1):c.1225C>G (p.Gln409Glu)

rs149540339 
NM_138361.5(LRSAM1):c.1351G>A (p.Ala451Thr)

rs0 
NM_138361.5(LRSAM1):c.1440T>G (p.Thr480=)

rs0 
NM_138361.5(LRSAM1):c.1518G>A (p.Glu506=)

rs0 
NM_138361.5(LRSAM1):c.1573C>A (p.Arg525=)

rs1442123730 
NM_138361.5(LRSAM1):c.1581A>G (p.Glu527=)

rs0 
NM_138361.5(LRSAM1):c.17518G>T

rs0 
NM_138361.5(LRSAM1):c.1830+20A>G

rs0 
NM_138361.5(LRSAM1):c.1974T>C (p.Ser658=)

rs140336379 
NM_138361.5(LRSAM1):c.2028C>G (p.Val676=)

rs566890772 
NM_138361.5(LRSAM1):c.2046+16T>C

rs0 
NM_138361.5(LRSAM1):c.2139C>T (p.Ile713=)

rs373990000 
NM_138361.5(LRSAM1):c.268G>A (p.Asp90Asn)

rs117692127 
NM_138361.5(LRSAM1):c.330C>T (p.Asn110=)

rs0 
NM_138361.5(LRSAM1):c.406+15G>T

rs201808404 
NM_138361.5(LRSAM1):c.51C>T (p.Arg17=)

rs0 
NM_138361.5(LRSAM1):c.528+15G>C

rs0 
NM_138361.5(LRSAM1):c.619+11G>A

rs370502826 
NM_138361.5(LRSAM1):c.7518C>G

rs367823841 
NM_138361.5(LRSAM1):c.822G>A (p.Leu274=)

rs146079606 
NM_138361.5(LRSAM1):c.846C>G (p.Thr282=)

rs548270854 
NM_138361.5(LRSAM1):c.954C>T (p.Asn318=)

rs200527839 
NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg)

rs56380300 
NM_139241.3(FGD4):c.1191+7G>A

rs0 
NM_139241.3(FGD4):c.1198C>T (p.Leu400=)

rs0 
NM_139241.3(FGD4):c.1366C>A (p.Pro456Thr)

rs138160928 
NM_139241.3(FGD4):c.1413T>G (p.Val471=)

rs0 
NM_139241.3(FGD4):c.1511+11C>T

rs0 
NM_139241.3(FGD4):c.1659C>G (p.Ala553=)

rs188104446 
NM_139241.3(FGD4):c.1962G>A (p.Glu654=)

rs201822384 
NM_139241.3(FGD4):c.201C>T (p.Leu67=)

rs141920723 
NM_139241.3(FGD4):c.2220A>G (p.Thr740=)

rs0 
NM_139241.3(FGD4):c.236C>T (p.Thr79Ile)

rs145115430 
NM_139241.3(FGD4):c.255A>T (p.Ala85=)

rs139357821 
NM_139241.3(FGD4):c.374C>T (p.Thr125Met)

rs200732890 
NM_139241.3(FGD4):c.732G>A (p.Ser244=)

rs34555341 
NM_139241.3(FGD4):c.83713A>G

rs0 
NM_139241.3(FGD4):c.83716dup

rs368420700 
NM_139241.3(FGD4):c.852A>G (p.Arg284=)

rs773609461 
NM_170707.4(LMNA):c.1017G>A (p.Ala339=)

rs17847242 
NM_170707.4(LMNA):c.1092C>T (p.Asp364=)

rs0 
NM_170707.4(LMNA):c.1157+15C>T

rs0 
NM_170707.4(LMNA):c.1157+19G>A

rs757715731 
NM_170707.4(LMNA):c.1261C>T (p.Leu421=)

rs1194745110 
NM_170707.4(LMNA):c.12G>A (p.Pro4=)

rs369823958 
NM_170707.4(LMNA):c.1314G>A (p.Gly438=)

rs774817302 
NM_170707.4(LMNA):c.1488+14C>T

rs377700689 
NM_170707.4(LMNA):c.1488+8G>A

rs762836610 
NM_170707.4(LMNA):c.148916C>G

rs0 
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)

rs41314035 
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)

rs149339264 
NM_170707.4(LMNA):c.1584G>A (p.Thr528=)

rs80356812 
NM_170707.4(LMNA):c.16998C>G

rs727503137 
NM_170707.4(LMNA):c.1761G>A (p.Leu587=)

rs80356813 
NM_170707.4(LMNA):c.1770C>T (p.Thr590=)

rs397517896 
NM_170707.4(LMNA):c.1851C>T (p.Ala617=)

rs143189394 
NM_170707.4(LMNA):c.1857T>C (p.Ser619=)

rs368581237 
NM_170707.4(LMNA):c.1911C>T (p.Phe637=)

rs117939448 
NM_170707.4(LMNA):c.1968+18dup

rs0 
NM_170707.4(LMNA):c.19694T>C

rs751715969 
NM_170707.4(LMNA):c.486G>A (p.Leu162=)

rs727503135 
NM_170707.4(LMNA):c.572T>G (p.Val191Gly)

rs0 
NM_170707.4(LMNA):c.579T>C (p.Ala193=)

rs749728556 
NM_170707.4(LMNA):c.810+12C>T

rs746914371 
NM_170707.4(LMNA):c.936+12C>T

rs199881992 
NM_170707.4(LMNA):c.9377C>G

rs267607681 
NM_181882.3(PRX):c.1077C>G (p.Arg359=)

rs0 
NM_181882.3(PRX):c.1113A>G (p.Glu371=)

rs137930942 
NM_181882.3(PRX):c.1491C>G (p.Pro497=)

rs1224453835 
NM_181882.3(PRX):c.1638A>G (p.Val546=)

rs0 
NM_181882.3(PRX):c.1695A>G (p.Pro565=)

rs0 
NM_181882.3(PRX):c.1695A>T (p.Pro565=)

rs0 
NM_181882.3(PRX):c.1818G>A (p.Pro606=)

rs0 
NM_181882.3(PRX):c.1857A>G (p.Pro619=)

rs0 
NM_181882.3(PRX):c.1950C>T (p.Pro650=)

rs0 
NM_181882.3(PRX):c.1986C>T (p.Val662=)

rs0 
NM_181882.3(PRX):c.2295C>T (p.Asp765=)

rs0 
NM_181882.3(PRX):c.2400G>A (p.Lys800=)

rs0 
NM_181882.3(PRX):c.2424G>A (p.Lys808=)

rs0 
NM_181882.3(PRX):c.2649G>A (p.Glu883=)

rs0 
NM_181882.3(PRX):c.2715C>A (p.Thr905=)

rs188765166 
NM_181882.3(PRX):c.2724G>T (p.Leu908=)

rs0 
NM_181882.3(PRX):c.300G>A (p.Val100=)

rs0 
NM_181882.3(PRX):c.3195C>T (p.Ser1065=)

rs0 
NM_181882.3(PRX):c.3423G>A (p.Ala1141=)

rs0 
NM_181882.3(PRX):c.3519A>C (p.Thr1173=)

rs0 
NM_181882.3(PRX):c.3768G>T (p.Val1256=)

rs0 
NM_181882.3(PRX):c.4059_4061GGA[8] (p.Glu1361dup)

rs139624657 
NM_181882.3(PRX):c.4146C>T (p.Gly1382=)

rs0 
NM_181882.3(PRX):c.717G>T (p.Pro239=)

rs761293957 
NM_181882.3(PRX):c.861C>T (p.Ala287=)

rs0 