NM_001100.4(ACTA1):c.*248G>A
|
rs551585351
|
0.00167
|
NM_001100.4(ACTA1):c.132C>T (p.Gly44=)
|
rs146956806
|
0.00066
|
NM_001100.4(ACTA1):c.1125A>G (p.Lys375=)
|
rs142311664
|
0.00050
|
NM_001100.4(ACTA1):c.786G>C (p.Thr262=)
|
rs141030526
|
0.00034
|
NM_001100.4(ACTA1):c.867C>T (p.Ile289=)
|
rs140074813
|
0.00009
|
NM_001100.4(ACTA1):c.435C>T (p.Tyr145=)
|
rs371410845
|
0.00003
|
NM_001100.4(ACTA1):c.809-14_809-13insA
|
rs749384329
|
0.00003
|
NM_001100.4(ACTA1):c.389A>G (p.Asn130Ser)
|
rs766934634
|
0.00002
|
NM_001100.4(ACTA1):c.808+6C>A
|
rs200342114
|
0.00002
|
NM_001100.4(ACTA1):c.809-16_809-15insG
|
rs746125735
|
0.00002
|
NM_001100.4(ACTA1):c.*66G>A
|
rs1403018747
|
0.00001
|
NM_001100.4(ACTA1):c.329C>T (p.Ala110Val)
|
rs970679543
|
0.00001
|
NM_001100.4(ACTA1):c.454+3G>T
|
rs200976037
|
0.00001
|
NM_001100.4(ACTA1):c.455-9C>G
|
rs772957464
|
0.00001
|
NM_001100.4(ACTA1):c.606C>A (p.Phe202Leu)
|
rs1255258064
|
0.00001
|
NM_001100.4(ACTA1):c.616+5G>A
|
rs773010488
|
0.00001
|
NM_001100.4(ACTA1):c.622C>A (p.Arg208Ser)
|
rs148514635
|
0.00001
|
NM_001100.4(ACTA1):c.749T>C (p.Ile250Thr)
|
rs1659954399
|
0.00001
|
NM_001100.4(ACTA1):c.82G>T (p.Ala28Ser)
|
rs546670743
|
0.00001
|
NM_001100.4(ACTA1):c.888T>C (p.Tyr296=)
|
rs770931836
|
0.00001
|
NC_000001.11:g.(?_229431489)_(229433125_?)dup
|
|
|
NM_001100.3(ACTA1):c.220G>C (p.Glu74Gln)
|
rs727503798
|
|
NM_001100.4(ACTA1):c.1010G>A (p.Arg337His)
|
|
|
NM_001100.4(ACTA1):c.1014A>C (p.Lys338Asn)
|
rs1553255306
|
|
NM_001100.4(ACTA1):c.1015T>A (p.Tyr339Asn)
|
|
|
NM_001100.4(ACTA1):c.1018T>G (p.Ser340Ala)
|
|
|
NM_001100.4(ACTA1):c.1027A>G (p.Ile343Val)
|
|
|
NM_001100.4(ACTA1):c.1030G>A (p.Gly344Ser)
|
|
|
NM_001100.4(ACTA1):c.1031G>A (p.Gly344Asp)
|
rs1558081360
|
|
NM_001100.4(ACTA1):c.1033G>A (p.Gly345Ser)
|
|
|
NM_001100.4(ACTA1):c.1044_1060del (p.Ala349fs)
|
rs2102735016
|
|
NM_001100.4(ACTA1):c.104C>G (p.Ser35Cys)
|
rs2102736568
|
|
NM_001100.4(ACTA1):c.1057A>G (p.Thr353Ala)
|
rs1659934469
|
|
NM_001100.4(ACTA1):c.1061T>C (p.Phe354Ser)
|
|
|
NM_001100.4(ACTA1):c.1071G>C (p.Met357Ile)
|
rs745494410
|
|
NM_001100.4(ACTA1):c.108C>T (p.Ile36=)
|
rs143948837
|
|
NM_001100.4(ACTA1):c.1109C>A (p.Ser370Tyr)
|
rs1553255290
|
|
NM_001100.4(ACTA1):c.1113C>G (p.Ile371Met)
|
rs886046075
|
|
NM_001100.4(ACTA1):c.1127G>A (p.Cys376Tyr)
|
|
|
NM_001100.4(ACTA1):c.1128C>T (p.Cys376=)
|
rs1659932688
|
|
NM_001100.4(ACTA1):c.113G>A (p.Gly38Asp)
|
rs2102736562
|
|
NM_001100.4(ACTA1):c.119C>G (p.Pro40Arg)
|
rs1659984455
|
|
NM_001100.4(ACTA1):c.121C>G (p.Arg41Gly)
|
rs1429699993
|
|
NM_001100.4(ACTA1):c.129+14T>C
|
rs886046076
|
|
NM_001100.4(ACTA1):c.129+4A>T
|
|
|
NM_001100.4(ACTA1):c.130-11C>A
|
|
|
NM_001100.4(ACTA1):c.130-3C>T
|
|
|
NM_001100.4(ACTA1):c.130-5T>A
|
|
|
NM_001100.4(ACTA1):c.130G>T (p.Gly44Cys)
|
rs1131691941
|
|
NM_001100.4(ACTA1):c.131G>T (p.Gly44Val)
|
rs1558082125
|
|
NM_001100.4(ACTA1):c.133G>A (p.Val45Ile)
|
rs398123562
|
|
NM_001100.4(ACTA1):c.148G>T (p.Gly50Cys)
|
rs1558082103
|
|
NM_001100.4(ACTA1):c.153G>C (p.Gln51His)
|
rs2102736429
|
|
NM_001100.4(ACTA1):c.158A>T (p.Asp53Val)
|
rs2102736424
|
|
NM_001100.4(ACTA1):c.191G>T (p.Arg64Ile)
|
rs2102736399
|
|
NM_001100.4(ACTA1):c.1A>G (p.Met1Val)
|
rs1659988389
|
|
NM_001100.4(ACTA1):c.210G>A (p.Lys70=)
|
|
|
NM_001100.4(ACTA1):c.215C>T (p.Pro72Leu)
|
|
|
NM_001100.4(ACTA1):c.283G>A (p.Glu95Lys)
|
rs1571893814
|
|
NM_001100.4(ACTA1):c.284A>G (p.Glu95Gly)
|
|
|
NM_001100.4(ACTA1):c.307C>T (p.His103Tyr)
|
|
|
NM_001100.4(ACTA1):c.311C>A (p.Pro104His)
|
|
|
NM_001100.4(ACTA1):c.323C>T (p.Thr108Ile)
|
rs1659976518
|
|
NM_001100.4(ACTA1):c.331_348del (p.Pro111_Ala116del)
|
|
|
NM_001100.4(ACTA1):c.334C>A (p.Leu112Ile)
|
rs146508471
|
|
NM_001100.4(ACTA1):c.346G>T (p.Ala116Ser)
|
rs1659975786
|
|
NM_001100.4(ACTA1):c.349A>T (p.Asn117Tyr)
|
|
|
NM_001100.4(ACTA1):c.358A>C (p.Lys120Gln)
|
|
|
NM_001100.4(ACTA1):c.370A>G (p.Ile124Val)
|
|
|
NM_001100.4(ACTA1):c.37G>A (p.Asp13Asn)
|
rs1571894217
|
|
NM_001100.4(ACTA1):c.391G>A (p.Val131Met)
|
rs1273559032
|
|
NM_001100.4(ACTA1):c.3G>A (p.Met1Ile)
|
|
|
NM_001100.4(ACTA1):c.407T>C (p.Val136Ala)
|
|
|
NM_001100.4(ACTA1):c.40A>T (p.Asn14Tyr)
|
rs2102736617
|
|
NM_001100.4(ACTA1):c.410C>A (p.Ala137Asp)
|
|
|
NM_001100.4(ACTA1):c.425T>G (p.Leu142Arg)
|
rs1553255482
|
|
NM_001100.4(ACTA1):c.428C>T (p.Ser143Phe)
|
|
|
NM_001100.4(ACTA1):c.431T>C (p.Leu144Pro)
|
|
|
NM_001100.4(ACTA1):c.434A>T (p.Tyr145Phe)
|
|
|
NM_001100.4(ACTA1):c.437C>T (p.Ala146Val)
|
rs1659973054
|
|
NM_001100.4(ACTA1):c.442G>C (p.Gly148Arg)
|
rs398123563
|
|
NM_001100.4(ACTA1):c.446G>A (p.Arg149Lys)
|
rs398123564
|
|
NM_001100.4(ACTA1):c.452C>A (p.Thr151Asn)
|
rs2102736155
|
|
NM_001100.4(ACTA1):c.453C>G (p.Thr151=)
|
rs76030344
|
|
NM_001100.4(ACTA1):c.453C>T (p.Thr151=)
|
rs76030344
|
|
NM_001100.4(ACTA1):c.455-20TC[2]
|
|
|
NM_001100.4(ACTA1):c.455-7C>A
|
|
|
NM_001100.4(ACTA1):c.480C>A (p.Gly160=)
|
rs1571893385
|
|
NM_001100.4(ACTA1):c.491A>G (p.Asn164Ser)
|
|
|
NM_001100.4(ACTA1):c.515C>T (p.Ala172Val)
|
rs587780272
|
|
NM_001100.4(ACTA1):c.517C>A (p.Leu173Met)
|
rs2102735941
|
|
NM_001100.4(ACTA1):c.532A>C (p.Met178Leu)
|
|
|
NM_001100.4(ACTA1):c.539T>C (p.Leu180Pro)
|
rs1558081797
|
|
NM_001100.4(ACTA1):c.575T>C (p.Met192Thr)
|
rs1057523333
|
|
NM_001100.4(ACTA1):c.587C>T (p.Thr196Ile)
|
rs2102735869
|
|
NM_001100.4(ACTA1):c.616+4C>G
|
rs371799971
|
|
NM_001100.4(ACTA1):c.616+4C>T
|
rs371799971
|
|
NM_001100.4(ACTA1):c.61G>A (p.Ala21Thr)
|
rs1659986179
|
|
NM_001100.4(ACTA1):c.627G>C (p.Glu209Asp)
|
|
|
NM_001100.4(ACTA1):c.627G>T (p.Glu209Asp)
|
|
|
NM_001100.4(ACTA1):c.64G>T (p.Gly22Cys)
|
|
|
NM_001100.4(ACTA1):c.659A>T (p.Tyr220Phe)
|
rs1571893107
|
|
NM_001100.4(ACTA1):c.661G>T (p.Val221Leu)
|
|
|
NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro)
|
rs121909530
|
|
NM_001100.4(ACTA1):c.676G>A (p.Glu226Lys)
|
rs1057521118
|
|
NM_001100.4(ACTA1):c.697_698delinsAA (p.Ala233Asn)
|
rs2102735641
|
|
NM_001100.4(ACTA1):c.69C>A (p.Phe23Leu)
|
|
|
NM_001100.4(ACTA1):c.709T>C (p.Ser237Pro)
|
|
|
NM_001100.4(ACTA1):c.713T>C (p.Leu238Pro)
|
rs1571893051
|
|
NM_001100.4(ACTA1):c.716A>G (p.Glu239Gly)
|
|
|
NM_001100.4(ACTA1):c.727G>A (p.Glu243Lys)
|
rs367543051
|
|
NM_001100.4(ACTA1):c.727G>C (p.Glu243Gln)
|
|
|
NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu)
|
rs748592740
|
|
NM_001100.4(ACTA1):c.738C>G (p.Asp246Glu)
|
|
|
NM_001100.4(ACTA1):c.742C>A (p.Gln248Lys)
|
rs1659954634
|
|
NM_001100.4(ACTA1):c.751A>T (p.Thr251Ser)
|
|
|
NM_001100.4(ACTA1):c.757G>T (p.Gly253Cys)
|
rs2102735572
|
|
NM_001100.4(ACTA1):c.796C>T (p.Pro266Ser)
|
rs1553255405
|
|
NM_001100.4(ACTA1):c.797C>T (p.Pro266Leu)
|
|
|
NM_001100.4(ACTA1):c.800C>G (p.Ser267Cys)
|
rs2102735536
|
|
NM_001100.4(ACTA1):c.805A>G (p.Ile269Val)
|
|
|
NM_001100.4(ACTA1):c.808+3G>A
|
rs549268481
|
|
NM_001100.4(ACTA1):c.809-10C>A
|
rs1659945481
|
|
NM_001100.4(ACTA1):c.809-13_809-12dup
|
rs201427429
|
|
NM_001100.4(ACTA1):c.809-19_809-18insA
|
rs1659946693
|
|
NM_001100.4(ACTA1):c.809-9G>A
|
|
|
NM_001100.4(ACTA1):c.811A>G (p.Met271Val)
|
rs1553255361
|
|
NM_001100.4(ACTA1):c.819_820delinsTT (p.Ala274Ser)
|
|
|
NM_001100.4(ACTA1):c.81C>A (p.Asp27Glu)
|
rs1553255533
|
|
NM_001100.4(ACTA1):c.81C>T (p.Asp27=)
|
rs1553255533
|
|
NM_001100.4(ACTA1):c.82G>A (p.Ala28Thr)
|
|
|
NM_001100.4(ACTA1):c.82G>C (p.Ala28Pro)
|
rs546670743
|
|
NM_001100.4(ACTA1):c.82_83delinsTG (p.Ala28Cys)
|
rs2102736585
|
|
NM_001100.4(ACTA1):c.836C>A (p.Thr279Asn)
|
|
|
NM_001100.4(ACTA1):c.866T>A (p.Ile289Asn)
|
rs1659943773
|
|
NM_001100.4(ACTA1):c.880G>T (p.Asp294Tyr)
|
|
|
NM_001100.4(ACTA1):c.897C>A (p.Asn299Lys)
|
rs533868659
|
|
NM_001100.4(ACTA1):c.898G>T (p.Val300Phe)
|
rs1553255349
|
|
NM_001100.4(ACTA1):c.911G>A (p.Gly304Asp)
|
rs2102735242
|
|
NM_001100.4(ACTA1):c.922T>C (p.Tyr308His)
|
rs2102735230
|
|
NM_001100.4(ACTA1):c.923A>G (p.Tyr308Cys)
|
rs878854374
|
|
NM_001100.4(ACTA1):c.954G>C (p.Glu318Asp)
|
|
|
NM_001100.4(ACTA1):c.963_968del (p.Leu322_Ala323del)
|
rs1553255336
|
|
NM_001100.4(ACTA1):c.964C>G (p.Leu322Val)
|
rs1659940726
|
|
NM_001100.4(ACTA1):c.965T>A (p.Leu322Gln)
|
rs1571892527
|
|
NM_001100.4(ACTA1):c.966G>A (p.Leu322=)
|
rs765996798
|
|
NM_001100.4(ACTA1):c.981G>C (p.Met327Ile)
|
rs1553255334
|
|
NM_001100.4(ACTA1):c.983_985del (p.Lys328del)
|
rs1659939983
|
|
NM_001100.4(ACTA1):c.986T>C (p.Ile329Thr)
|
|
|
NM_001100.4(ACTA1):c.986_989dup (p.Lys330fs)
|
|
|
NM_001100.4(ACTA1):c.990+3G>T
|
|
|