ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 838
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HGVS dbSNP
NM_000166.6(GJB1):c.*18C>G
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.320-4C>T rs377467465
NM_000304.4(PMP22):c.354G>T (p.Thr118=)
NM_000304.4(PMP22):c.366G>A (p.Pro122=) rs372723732
NM_000304.4(PMP22):c.402C>T (p.Phe134=)
NM_000304.4(PMP22):c.477C>T (p.Arg159=)
NM_000304.4(PMP22):c.79-6C>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.70-19G>A rs548935944
NM_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343
NM_000371.4(TTR):c.201-3T>C
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074
NM_000371.4(TTR):c.337-13T>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=)
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=)
NM_000399.5(EGR2):c.222A>C (p.Pro74=)
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=)
NM_000399.5(EGR2):c.774G>A (p.Val258=)
NM_000399.5(EGR2):c.789T>C (p.Thr263=)
NM_000399.5(EGR2):c.816C>A (p.Thr272=) rs863224359
NM_000399.5(EGR2):c.843C>T (p.Thr281=)
NM_000530.8(MPZ):c.*1C>T
NM_000530.8(MPZ):c.174C>T (p.Val58=)
NM_000530.8(MPZ):c.24C>T (p.Ser8=) rs144841836
NM_000530.8(MPZ):c.42G>A (p.Leu14=)
NM_000530.8(MPZ):c.504G>A (p.Val168=) rs145592910
NM_000530.8(MPZ):c.531C>T (p.Tyr177=)
NM_000530.8(MPZ):c.645+10A>G
NM_001007792.1(NTRK1):c.484+1G>A rs1232901259
NM_001136473.1(LITAF):c.146C>T (p.Thr49Met) rs141862602
NM_001136473.1(LITAF):c.221-16C>T
NM_001136473.1(LITAF):c.357C>T (p.Cys119=) rs549492447
NM_001136473.1(LITAF):c.377+3G>A
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.751-10A>G rs372774822
NM_001365951.3(KIF1B):c.107-11T>G
NM_001365951.3(KIF1B):c.107-13T>C
NM_001365951.3(KIF1B):c.1180+13A>G
NM_001365951.3(KIF1B):c.1180+19G>A
NM_001365951.3(KIF1B):c.1435-9C>T
NM_001365951.3(KIF1B):c.1671-4T>C
NM_001365951.3(KIF1B):c.1968T>C (p.Pro656=)
NM_001365951.3(KIF1B):c.2043-4C>T
NM_001365951.3(KIF1B):c.2358+9C>T
NM_001365951.3(KIF1B):c.252C>T (p.His84=)
NM_001365951.3(KIF1B):c.2537+15A>G
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
NM_001365951.3(KIF1B):c.3688+7_3688+8dup
NM_001365951.3(KIF1B):c.3798-15G>A
NM_001365951.3(KIF1B):c.3936T>C (p.Arg1312=)
NM_001365951.3(KIF1B):c.4305-17T>A
NM_001365951.3(KIF1B):c.4524C>T (p.Thr1508=) rs373636782
NM_001365951.3(KIF1B):c.4946+10C>T
NM_001365951.3(KIF1B):c.4947-13C>G
NM_001365951.3(KIF1B):c.5097-11G>T
NM_001365951.3(KIF1B):c.5097-9C>T rs376873833
NM_001365951.3(KIF1B):c.522T>C (p.Leu174=)
NM_001365951.3(KIF1B):c.5409-16C>T
NM_001365951.3(KIF1B):c.606C>G (p.Ala202=)
NM_001365951.3(KIF1B):c.608+14T>G
NM_001365951.3(KIF1B):c.609-10G>A
NM_001365951.3(KIF1B):c.654C>T (p.His218=)
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.10414-13G>A rs17541421
NM_001376.5(DYNC1H1):c.10626+12G>A
NM_001376.5(DYNC1H1):c.10626+7A>G rs1427174553
NM_001376.5(DYNC1H1):c.1062A>G (p.Arg354=)
NM_001376.5(DYNC1H1):c.10754+10C>T
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=)
NM_001376.5(DYNC1H1):c.11016G>A (p.Ser3672=) rs199679500
NM_001376.5(DYNC1H1):c.11112C>T (p.Thr3704=)
NM_001376.5(DYNC1H1):c.11400G>A (p.Gln3800=) rs182767009
NM_001376.5(DYNC1H1):c.11424C>T (p.Cys3808=)
NM_001376.5(DYNC1H1):c.11595+20C>T
NM_001376.5(DYNC1H1):c.11596-20G>A rs372623721
NM_001376.5(DYNC1H1):c.11646C>G (p.Thr3882=)
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
NM_001376.5(DYNC1H1):c.12102+6G>A rs377669980
NM_001376.5(DYNC1H1):c.12276-17T>C
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
NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=) rs140033479
NM_001376.5(DYNC1H1):c.13372+14C>T
NM_001376.5(DYNC1H1):c.13404G>T (p.Thr4468=)
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=) rs150286673
NM_001376.5(DYNC1H1):c.13515+9G>A rs374678076
NM_001376.5(DYNC1H1):c.13516-18G>C
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=)
NM_001376.5(DYNC1H1):c.13899C>T (p.Arg4633=)
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.2719-6C>T rs199763298
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=) rs114021657
NM_001376.5(DYNC1H1):c.2869-3C>T rs750614475
NM_001376.5(DYNC1H1):c.3015+18C>G rs2749894
NM_001376.5(DYNC1H1):c.3378G>A (p.Glu1126=)
NM_001376.5(DYNC1H1):c.3414C>T (p.Asn1138=) rs772761222
NM_001376.5(DYNC1H1):c.345-10T>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.519-17A>G
NM_001376.5(DYNC1H1):c.519-3dup
NM_001376.5(DYNC1H1):c.5292C>T (p.Thr1764=)
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=) rs139919955
NM_001376.5(DYNC1H1):c.5649C>T (p.Pro1883=)
NM_001376.5(DYNC1H1):c.5668T>C (p.Leu1890=)
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.6222-20C>A rs200368499
NM_001376.5(DYNC1H1):c.6240C>G (p.Leu2080=)
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.6619-19G>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=)
NM_001376.5(DYNC1H1):c.7179G>A (p.Glu2393=)
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=)
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=) rs754446530
NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=)
NM_001376.5(DYNC1H1):c.7587G>A (p.Ala2529=) rs201720217
NM_001376.5(DYNC1H1):c.7848+13G>A
NM_001376.5(DYNC1H1):c.8178-19C>T
NM_001376.5(DYNC1H1):c.8202G>A (p.Val2734=) rs202023896
NM_001376.5(DYNC1H1):c.8262C>T (p.Ala2754=)
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=) rs77113510
NM_001376.5(DYNC1H1):c.8343+9_8343+10del
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737
NM_001376.5(DYNC1H1):c.855A>G (p.Leu285=)
NM_001376.5(DYNC1H1):c.8631G>A (p.Leu2877=)
NM_001376.5(DYNC1H1):c.8637+9C>T rs202042156
NM_001376.5(DYNC1H1):c.8638-7dup
NM_001376.5(DYNC1H1):c.8772-13C>T
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029
NM_001376.5(DYNC1H1):c.9048+16G>A
NM_001376.5(DYNC1H1):c.9072C>T (p.Asp3024=)
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
NM_001376.5(DYNC1H1):c.9471G>T (p.Ala3157=)
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
NM_001540.5(HSPB1):c.-19C>T rs199602956
NM_001540.5(HSPB1):c.-5C>T
NM_001540.5(HSPB1):c.110G>C (p.Arg37Pro)
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
NM_001540.5(HSPB1):c.365-5dup
NM_001540.5(HSPB1):c.365-7C>G rs201897299
NM_001540.5(HSPB1):c.428+13G>T
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
NM_002047.4(GARS1):c.1031+14T>G rs189589556
NM_002047.4(GARS1):c.1032-14G>A
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=)
NM_002047.4(GARS1):c.1420C>A (p.Arg474=) rs113958280
NM_002047.4(GARS1):c.1614-4G>C rs376324026
NM_002047.4(GARS1):c.1644A>G (p.Thr548=)
NM_002047.4(GARS1):c.1700-13A>G
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
NM_002047.4(GARS1):c.1809+14T>C rs367739730
NM_002047.4(GARS1):c.1809+16C>T
NM_002047.4(GARS1):c.1809+8G>C
NM_002047.4(GARS1):c.1904-18T>C rs41275991
NM_002047.4(GARS1):c.1904-19C>T
NM_002047.4(GARS1):c.1904-19del 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=)
NM_002047.4(GARS1):c.408A>G (p.Gln136=) rs200279483
NM_002047.4(GARS1):c.428-17C>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
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.2612-14C>T rs200940488
NM_002180.2(IGHMBP2):c.2612-15G>A rs372230504
NM_002180.2(IGHMBP2):c.2612-16C>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.548-10T>G rs139207271
NM_002180.2(IGHMBP2):c.548-20C>T rs368802434
NM_002180.2(IGHMBP2):c.855G>A (p.Ala285=) rs147409148
NM_002180.2(IGHMBP2):c.87-19A>G rs183650590
NM_002180.3(IGHMBP2):c.*18C>T
NM_002180.3(IGHMBP2):c.1061-19G>A
NM_002180.3(IGHMBP2):c.1479C>T (p.Thr493=) rs370367228
NM_002180.3(IGHMBP2):c.1537+9G>C
NM_002180.3(IGHMBP2):c.1538-11_1538-8del
NM_002180.3(IGHMBP2):c.1538-19G>A
NM_002180.3(IGHMBP2):c.2070C>G (p.Ala690=)
NM_002180.3(IGHMBP2):c.2544C>T (p.Pro848=) rs746248057
NM_002180.3(IGHMBP2):c.2670C>T (p.Ala890=)
NM_002180.3(IGHMBP2):c.273G>T (p.Leu91=)
NM_002180.3(IGHMBP2):c.2931G>C (p.Leu977=)
NM_002180.3(IGHMBP2):c.406C>T (p.Leu136=)
NM_002180.3(IGHMBP2):c.450-13T>C
NM_002180.3(IGHMBP2):c.548-19G>A
NM_002180.3(IGHMBP2):c.86+7G>C rs527948004
NM_004208.4(AIFM1):c.*20C>A
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.1574-20G>T
NM_004208.4(AIFM1):c.1782C>T (p.Asp594=)
NM_004208.4(AIFM1):c.249+1258T>C
NM_004208.4(AIFM1):c.273_274inv (p.Glu92Lys)
NM_004208.4(AIFM1):c.72C>T (p.Cys24=) rs373609902
NM_004208.4(AIFM1):c.939C>T (p.Ser313=)
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.400-17C>G
NM_004637.6(RAB7A):c.529-11T>G
NM_004990.4(MARS1):c.1294-5C>T rs149946100
NM_004990.4(MARS1):c.1368+15C>T
NM_004990.4(MARS1):c.1369-14C>T
NM_004990.4(MARS1):c.1731G>A (p.Leu577=)
NM_004990.4(MARS1):c.2112C>T (p.Ala704=)
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.2392-8T>A
NM_004990.4(MARS1):c.2511C>G (p.Ala837=) rs780483586
NM_004990.4(MARS1):c.2557-12C>G
NM_004990.4(MARS1):c.2557-13C>A
NM_004990.4(MARS1):c.2557-13C>G
NM_004990.4(MARS1):c.2557-14C>T
NM_004990.4(MARS1):c.280-13C>T
NM_004990.4(MARS1):c.414+8G>A
NM_004990.4(MARS1):c.415-5C>A rs747351446
NM_004990.4(MARS1):c.617C>T (p.Pro206Leu) rs138776588
NM_004990.4(MARS1):c.663+11G>A
NM_004990.4(MARS1):c.663+20C>T
NM_004990.4(MARS1):c.771-15C>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
NM_004990.4(MARS1):c.901C>T (p.Arg301Cys) rs139661803
NM_005391.5(PDK3):c.249-14T>G
NM_005391.5(PDK3):c.249-9dup
NM_005391.5(PDK3):c.674-11T>C
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.944-13C>T rs753312340
NM_006096.3(NDRG1):c.973C>A (p.Arg325=) rs141078746
NM_006096.4(NDRG1):c.-18-2_-18-1del
NM_006096.4(NDRG1):c.100-3C>T
NM_006096.4(NDRG1):c.1053A>C (p.Arg351=)
NM_006096.4(NDRG1):c.1062C>G (p.Ser354=)
NM_006096.4(NDRG1):c.206-17T>G
NM_006096.4(NDRG1):c.389+13G>C
NM_006096.4(NDRG1):c.594+9C>T rs373172944
NM_006096.4(NDRG1):c.699-16C>G
NM_006096.4(NDRG1):c.72C>T (p.Thr24=)
NM_006096.4(NDRG1):c.756-13T>C
NM_006096.4(NDRG1):c.756-5_756-4delinsTG
NM_006096.4(NDRG1):c.766C>T (p.Leu256=)
NM_006096.4(NDRG1):c.856-9C>T rs772996128
NM_006096.4(NDRG1):c.892-11G>A
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=)
NM_006158.5(NEFL):c.1169+14G>A
NM_006158.5(NEFL):c.1170-19C>T
NM_006158.5(NEFL):c.1611A>G (p.Gln537=)
NM_006158.5(NEFL):c.420G>A (p.Glu140=) rs1586128713
NM_006158.5(NEFL):c.612C>T (p.Leu204=)
NM_006158.5(NEFL):c.630G>A (p.Glu210=)
NM_006158.5(NEFL):c.678G>T (p.Val226=)
NM_006158.5(NEFL):c.86T>C (p.Val29Ala)
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084
NM_006415.4(SPTLC1):c.1254+8del
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=)
NM_006415.4(SPTLC1):c.560+16G>A rs73512337
NM_006415.4(SPTLC1):c.58-19G>C
NM_006415.4(SPTLC1):c.795C>T (p.Tyr265=) rs150756641
NM_006415.4(SPTLC1):c.993C>T (p.Ser331=)
NM_006736.6(DNAJB2):c.*17G>T
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=)
NM_006736.6(DNAJB2):c.298G>A (p.Glu100Lys) rs139406455
NM_006736.6(DNAJB2):c.352+20C>G
NM_006736.6(DNAJB2):c.353-9T>G
NM_006736.6(DNAJB2):c.444C>T (p.Ser148=)
NM_006736.6(DNAJB2):c.446-17C>G
NM_006736.6(DNAJB2):c.620-19G>A
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=)
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.1272-10C>G rs201293291
NM_014845.5(FIG4):c.1305G>C (p.Val435=) rs145227623
NM_014845.5(FIG4):c.1584-8T>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.1949-15C>T rs778444771
NM_014845.5(FIG4):c.2097-10C>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.2547-5T>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=)
NM_014845.6(FIG4):c.1272-10C>T rs201293291
NM_014845.6(FIG4):c.1341T>C (p.Phe447=)
NM_014845.6(FIG4):c.1356T>C (p.Asp452=)
NM_014845.6(FIG4):c.1536G>T (p.Leu512=)
NM_014845.6(FIG4):c.1750+11A>C
NM_014845.6(FIG4):c.2097-10C>T rs142482745
NM_014845.6(FIG4):c.2180+20C>T
NM_014845.6(FIG4):c.2241G>A (p.Pro747=) rs148589135
NM_014845.6(FIG4):c.2319T>C (p.Ser773=)
NM_014845.6(FIG4):c.2377-18T>C
NM_014845.6(FIG4):c.2377-20_2377-19insCT
NM_014845.6(FIG4):c.252G>A (p.Ser84=)
NM_014845.6(FIG4):c.289+17C>T
NM_014845.6(FIG4):c.42G>A (p.Lys14=) rs552856153
NM_014845.6(FIG4):c.447-16delinsTT
NM_014845.6(FIG4):c.66+18G>A
NM_014845.6(FIG4):c.744G>A (p.Leu248=)
NM_014874.3(MFN2):c.*15G>A rs141339523
NM_014874.3(MFN2):c.-4-13G>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=)
NM_014874.4(MFN2):c.1495+10del
NM_014874.4(MFN2):c.1529G>A (p.Arg510Gln) rs376598131
NM_014874.4(MFN2):c.1717-12T>G
NM_014874.4(MFN2):c.1717-15T>C
NM_014874.4(MFN2):c.1815C>T (p.Thr605=) rs751029047
NM_014874.4(MFN2):c.2028C>T (p.Val676=)
NM_014874.4(MFN2):c.2069+18A>G
NM_014874.4(MFN2):c.2070-11C>T
NM_014874.4(MFN2):c.2070-8C>T
NM_014874.4(MFN2):c.2130G>A (p.Leu710=)
NM_014874.4(MFN2):c.318C>T (p.Ser106=)
NM_014874.4(MFN2):c.708+10C>T
NM_015074.3(KIF1B):c.*2T>C rs148690591
NM_015074.3(KIF1B):c.1419T>C (p.Asp473=) rs146364486
NM_015074.3(KIF1B):c.1905-10_1905-9del 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.4615-9C>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
NM_016156.6(MTMR2):c.1387-19T>G
NM_016156.6(MTMR2):c.1594-20C>A
NM_016156.6(MTMR2):c.358-39_358-16del
NM_016156.6(MTMR2):c.358-42_358-18del
NM_016156.6(MTMR2):c.654+5G>A
NM_016156.6(MTMR2):c.655-19T>C
NM_016156.6(MTMR2):c.684A>G (p.Thr228=)
NM_018972.4(GDAP1):c.-19C>T
NM_018972.4(GDAP1):c.117+12C>G rs202059380
NM_018972.4(GDAP1):c.118-16G>A
NM_018972.4(GDAP1):c.123C>T (p.Arg41=)
NM_018972.4(GDAP1):c.311-7A>G
NM_018972.4(GDAP1):c.492T>C (p.Ile164=)
NM_018972.4(GDAP1):c.609G>A (p.Lys203=)
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=)
NM_018972.4(GDAP1):c.840C>T (p.Tyr280=) rs374624466
NM_018972.4(GDAP1):c.894T>C (p.Asn298=)
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.*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.1825-15C>G rs200602134
NM_021625.4(TRPV4):c.1825-15C>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.854-4G>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
NM_021625.5(TRPV4):c.1152+15dup
NM_021625.5(TRPV4):c.1404C>T (p.Ala468=) rs138301077
NM_021625.5(TRPV4):c.1492-17C>T
NM_021625.5(TRPV4):c.1585-15C>A
NM_021625.5(TRPV4):c.1824+14G>A
NM_021625.5(TRPV4):c.1824+5G>A
NM_021625.5(TRPV4):c.1827T>A (p.Ile609=) rs757493897
NM_021625.5(TRPV4):c.1977G>A (p.Ser659=)
NM_021625.5(TRPV4):c.2092C>T (p.Leu698=) rs774321681
NM_021625.5(TRPV4):c.2157C>T (p.Gly719=)
NM_021625.5(TRPV4):c.2336+10G>C
NM_021625.5(TRPV4):c.2349G>C (p.Val783=)
NM_021625.5(TRPV4):c.2610G>A (p.Pro870=)
NM_021625.5(TRPV4):c.396G>T (p.Pro132=)
NM_021625.5(TRPV4):c.615C>A (p.Gly205=)
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=)
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.280-5C>T rs201937366
NM_024577.3(SH3TC2):c.2873-18T>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.3479-8A>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.1002-8C>T rs748766254
NM_024577.4(SH3TC2):c.1136-12A>G
NM_024577.4(SH3TC2):c.1177+18T>A
NM_024577.4(SH3TC2):c.1584C>G (p.Ala528=)
NM_024577.4(SH3TC2):c.1623G>A (p.Lys541=) rs372749343
NM_024577.4(SH3TC2):c.1890G>A (p.Pro630=)
NM_024577.4(SH3TC2):c.2184C>A (p.Gly728=)
NM_024577.4(SH3TC2):c.2535A>C (p.Ala845=)
NM_024577.4(SH3TC2):c.2718T>C (p.Tyr906=)
NM_024577.4(SH3TC2):c.280-4G>A
NM_024577.4(SH3TC2):c.2873-16C>T
NM_024577.4(SH3TC2):c.2873-17C>T
NM_024577.4(SH3TC2):c.3479-20C>T
NM_024577.4(SH3TC2):c.3522A>G (p.Thr1174=) rs762263591
NM_024577.4(SH3TC2):c.3531C>T (p.Tyr1177=)
NM_024577.4(SH3TC2):c.52+4A>G
NM_024577.4(SH3TC2):c.53-17del
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=)
NM_024577.4(SH3TC2):c.731+17C>A
NM_024577.4(SH3TC2):c.945A>G (p.Ser315=)
NM_030962.3(SBF2):c.1297-13T>C
NM_030962.3(SBF2):c.1368G>A (p.Arg456=)
NM_030962.3(SBF2):c.142-22dup
NM_030962.3(SBF2):c.1509A>G (p.Glu503=) rs143773975
NM_030962.3(SBF2):c.1601-20T>C
NM_030962.3(SBF2):c.1623G>A (p.Thr541=) rs184849947
NM_030962.3(SBF2):c.1711-9T>C
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=)
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
NM_030962.3(SBF2):c.2598G>A (p.Pro866=) rs376372877
NM_030962.3(SBF2):c.2611-35AATC[6] rs202029370
NM_030962.3(SBF2):c.2619T>C (p.Ile873=)
NM_030962.3(SBF2):c.280-5T>C rs368118378
NM_030962.3(SBF2):c.3450C>T (p.Cys1150=) rs377608130
NM_030962.3(SBF2):c.3456-22_3456-18del
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.403-15T>G rs887143579
NM_030962.3(SBF2):c.4096C>T (p.Pro1366Ser) rs115927577
NM_030962.3(SBF2):c.4101T>G (p.Thr1367=)
NM_030962.3(SBF2):c.4111G>C (p.Val1371Leu) rs149501654
NM_030962.3(SBF2):c.4290C>T (p.Pro1430=)
NM_030962.3(SBF2):c.4539C>T (p.Leu1513=)
NM_030962.3(SBF2):c.4635T>A (p.Ile1545=)
NM_030962.3(SBF2):c.4687T>C (p.Leu1563=) rs563878786
NM_030962.3(SBF2):c.4758G>A (p.Glu1586=)
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.5038-9C>G
NM_030962.3(SBF2):c.5043A>G (p.Gln1681=)
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=)
NM_030962.3(SBF2):c.5451+8G>C
NM_030962.3(SBF2):c.5452-3T>C
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.753-16T>C rs7128234
NM_030962.3(SBF2):c.777G>A (p.Pro259=) rs142261202
NM_030962.3(SBF2):c.78A>G (p.Lys26=)
NM_030962.3(SBF2):c.861+9T>A
NM_030962.3(SBF2):c.946C>T (p.Leu316=) rs374841593
NM_030962.3(SBF2):c.948A>C (p.Leu316=)
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.689-3C>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=)
NM_030973.4(MED25):c.1102-11C>G
NM_030973.4(MED25):c.1317-16del
NM_030973.4(MED25):c.134+19A>G
NM_030973.4(MED25):c.134+20C>T
NM_030973.4(MED25):c.1369C>T (p.Leu457=)
NM_030973.4(MED25):c.1482+17G>A
NM_030973.4(MED25):c.1533C>T (p.Leu511=)
NM_030973.4(MED25):c.1675-18C>T
NM_030973.4(MED25):c.168C>T (p.Asp56=)
NM_030973.4(MED25):c.1747-19_1747-18del
NM_030973.4(MED25):c.1764G>A (p.Pro588=)
NM_030973.4(MED25):c.186G>A (p.Gly62=)
NM_030973.4(MED25):c.1966-5C>T
NM_030973.4(MED25):c.2037G>A (p.Leu679=)
NM_030973.4(MED25):c.2146+19G>T
NM_030973.4(MED25):c.2146+6G>A
NM_030973.4(MED25):c.305+17T>G
NM_030973.4(MED25):c.558G>A (p.Arg186=)
NM_030973.4(MED25):c.580C>T (p.Leu194=)
NM_030973.4(MED25):c.688+17G>A
NM_138361.5(LRSAM1):c.1026_1027delinsTT (p.Leu342_Leu343=) rs1554757292
NM_138361.5(LRSAM1):c.1044-20T>C
NM_138361.5(LRSAM1):c.1083T>C (p.Asn361=)
NM_138361.5(LRSAM1):c.1160-7C>T rs377144291
NM_138361.5(LRSAM1):c.1225C>G (p.Gln409Glu) rs149540339
NM_138361.5(LRSAM1):c.1351G>A (p.Ala451Thr)
NM_138361.5(LRSAM1):c.1440T>G (p.Thr480=)
NM_138361.5(LRSAM1):c.1518G>A (p.Glu506=)
NM_138361.5(LRSAM1):c.1573C>A (p.Arg525=) rs1442123730
NM_138361.5(LRSAM1):c.1581A>G (p.Glu527=)
NM_138361.5(LRSAM1):c.175-18G>T
NM_138361.5(LRSAM1):c.1830+20A>G
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
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=)
NM_138361.5(LRSAM1):c.406+15G>T rs201808404
NM_138361.5(LRSAM1):c.51C>T (p.Arg17=)
NM_138361.5(LRSAM1):c.528+15G>C
NM_138361.5(LRSAM1):c.619+11G>A rs370502826
NM_138361.5(LRSAM1):c.751-8C>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
NM_139241.3(FGD4):c.1198C>T (p.Leu400=)
NM_139241.3(FGD4):c.1366C>A (p.Pro456Thr) rs138160928
NM_139241.3(FGD4):c.1413T>G (p.Val471=)
NM_139241.3(FGD4):c.1511+11C>T
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=)
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.837-13A>G
NM_139241.3(FGD4):c.837-16dup 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=)
NM_170707.4(LMNA):c.1157+15C>T
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.1489-16C>G
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.1699-8C>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
NM_170707.4(LMNA):c.1969-4T>C rs751715969
NM_170707.4(LMNA):c.486G>A (p.Leu162=) rs727503135
NM_170707.4(LMNA):c.572T>G (p.Val191Gly)
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.937-7C>G rs267607681
NM_181882.3(PRX):c.1077C>G (p.Arg359=)
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=)
NM_181882.3(PRX):c.1695A>G (p.Pro565=)
NM_181882.3(PRX):c.1695A>T (p.Pro565=)
NM_181882.3(PRX):c.1818G>A (p.Pro606=)
NM_181882.3(PRX):c.1857A>G (p.Pro619=)
NM_181882.3(PRX):c.1950C>T (p.Pro650=)
NM_181882.3(PRX):c.1986C>T (p.Val662=)
NM_181882.3(PRX):c.2295C>T (p.Asp765=)
NM_181882.3(PRX):c.2400G>A (p.Lys800=)
NM_181882.3(PRX):c.2424G>A (p.Lys808=)
NM_181882.3(PRX):c.2649G>A (p.Glu883=)
NM_181882.3(PRX):c.2715C>A (p.Thr905=) rs188765166
NM_181882.3(PRX):c.2724G>T (p.Leu908=)
NM_181882.3(PRX):c.300G>A (p.Val100=)
NM_181882.3(PRX):c.3195C>T (p.Ser1065=)
NM_181882.3(PRX):c.3423G>A (p.Ala1141=)
NM_181882.3(PRX):c.3519A>C (p.Thr1173=)
NM_181882.3(PRX):c.3768G>T (p.Val1256=)
NM_181882.3(PRX):c.4059GGA[5] (p.Glu1360_Glu1361del) rs139624657
NM_181882.3(PRX):c.4059GGA[8] (p.Glu1361dup) rs139624657
NM_181882.3(PRX):c.4146C>T (p.Gly1382=)
NM_181882.3(PRX):c.717G>T (p.Pro239=) rs761293957
NM_181882.3(PRX):c.861C>T (p.Ala287=)

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