1 |
ACTA1 |
NM_001100.4(ACTA1):c.515C>A (p.Ala172Glu) |
SNV |
Pathogenic
|
128261 |
rs587780272 |
GRCh37: 1:229568118-229568118 GRCh38: 1:229432371-229432371 |
2 |
ACTA1 |
NM_001100.4(ACTA1):c.809G>A (p.Gly270Asp) |
SNV |
Pathogenic
|
434074 |
rs1553255362 |
GRCh37: 1:229567649-229567649 GRCh38: 1:229431902-229431902 |
3 |
ACTA1 |
NM_001100.4(ACTA1):c.287T>C (p.Leu96Pro) |
SNV |
Pathogenic
|
18279 |
rs121909519 |
GRCh37: 1:229568470-229568470 GRCh38: 1:229432723-229432723 |
4 |
ACTA1 |
NM_001100.4(ACTA1):c.493G>T (p.Val165Leu) |
SNV |
Pathogenic
|
18282 |
rs121909522 |
GRCh37: 1:229568140-229568140 GRCh38: 1:229432393-229432393 |
5 |
ACTA1 |
NM_001100.4(ACTA1):c.782A>T (p.Glu261Val) |
SNV |
Pathogenic
|
18283 |
rs121909523 |
GRCh37: 1:229567767-229567767 GRCh38: 1:229432020-229432020 |
6 |
ACTA1 |
NM_001100.4(ACTA1):c.1075A>C (p.Ile359Leu) |
SNV |
Pathogenic
|
18284 |
rs121909524 |
GRCh37: 1:229567305-229567305 GRCh38: 1:229431558-229431558 |
7 |
ACTA1 |
NM_001100.4(ACTA1):c.808G>T (p.Gly270Cys) |
SNV |
Pathogenic
|
18285 |
rs121909525 |
GRCh37: 1:229567741-229567741 GRCh38: 1:229431994-229431994 |
8 |
ACTA1 |
NM_001100.4(ACTA1):c.414C>G (p.Ile138Met) |
SNV |
Pathogenic
|
18286 |
rs121909526 |
GRCh37: 1:229568343-229568343 GRCh38: 1:229432596-229432596 |
9 |
ACTA1 |
NM_001100.4(ACTA1):c.493G>A (p.Val165Met) |
SNV |
Pathogenic
|
18292 |
rs121909522 |
GRCh37: 1:229568140-229568140 GRCh38: 1:229432393-229432393 |
10 |
ACTA1 |
NM_001100.4(ACTA1):c.984G>C (p.Lys328Asn) |
SNV |
Pathogenic
|
50318 |
rs398122936 |
GRCh37: 1:229567474-229567474 GRCh38: 1:229431727-229431727 |
11 |
ACTA1 |
NM_001100.4(ACTA1):c.49G>C (p.Gly17Arg) |
SNV |
Pathogenic
|
18281 |
rs121909521 |
GRCh37: 1:229568814-229568814 GRCh38: 1:229433067-229433067 |
12 |
ACTA1 |
NM_001100.4(ACTA1):c.7G>T (p.Asp3Tyr) |
SNV |
Pathogenic
|
18287 |
rs121909527 |
GRCh37: 1:229568856-229568856 GRCh38: 1:229433109-229433109 |
13 |
ACTA1 |
NM_001100.4(ACTA1):c.1007A>C (p.Glu336Ala) |
SNV |
Pathogenic
|
18288 |
rs121909528 |
GRCh37: 1:229567373-229567373 GRCh38: 1:229431626-229431626 |
14 |
ACTA1 |
NM_001100.4(ACTA1):c.616+1G>A |
SNV |
Pathogenic
|
464128 |
rs111812550 |
GRCh37: 1:229568016-229568016 GRCh38: 1:229432269-229432269 |
15 |
ACTA1 |
NM_001100.4(ACTA1):c.553C>T (p.Arg185Cys) |
SNV |
Pathogenic
|
464125 |
rs1064794287 |
GRCh37: 1:229568080-229568080 GRCh38: 1:229432333-229432333 |
16 |
ACTA1 |
NM_001100.4(ACTA1):c.84_85insT (p.Pro29fs) |
INSERT |
Pathogenic
|
464132 |
rs753923758 |
GRCh37: 1:229568778-229568779 GRCh38: 1:229433031-229433032 |
17 |
ACTA1 |
NM_001100.4(ACTA1):c.660C>A (p.Tyr220Ter) |
SNV |
Pathogenic
|
464130 |
rs201823652 |
GRCh37: 1:229567889-229567889 GRCh38: 1:229432142-229432142 |
18 |
ACTA1 |
NM_001100.4(ACTA1):c.142G>A (p.Gly48Ser) |
SNV |
Pathogenic
|
196311 |
rs794727488 |
GRCh37: 1:229568615-229568615 GRCh38: 1:229432868-229432868 |
19 |
ACTA1 |
NM_001100.4(ACTA1):c.598T>A (p.Tyr200Asn) |
SNV |
Pathogenic
|
464126 |
rs1553255432 |
GRCh37: 1:229568035-229568035 GRCh38: 1:229432288-229432288 |
20 |
ACTA1 |
NM_001100.4(ACTA1):c.109G>T (p.Val37Leu) |
SNV |
Pathogenic
|
464114 |
rs1553255521 |
GRCh37: 1:229568754-229568754 GRCh38: 1:229433007-229433007 |
21 |
ACTA1 |
NM_001100.4(ACTA1):c.808G>C (p.Gly270Arg) |
SNV |
Pathogenic
|
228243 |
rs121909525 |
GRCh37: 1:229567741-229567741 GRCh38: 1:229431994-229431994 |
22 |
ACTA1 |
NM_001100.4(ACTA1):c.1132T>C (p.Ter378Gln) |
SNV |
Pathogenic
|
532768 |
rs1553255288 |
GRCh37: 1:229567248-229567248 GRCh38: 1:229431501-229431501 |
23 |
ACTA1 |
NM_001100.4(ACTA1):c.449C>G (p.Thr150Ser) |
SNV |
Pathogenic
|
532769 |
rs1553255479 |
GRCh37: 1:229568308-229568308 GRCh38: 1:229432561-229432561 |
24 |
ACTA1 |
NM_001100.4(ACTA1):c.461T>C (p.Val154Ala) |
SNV |
Pathogenic
|
532771 |
rs1553255446 |
GRCh37: 1:229568172-229568172 GRCh38: 1:229432425-229432425 |
25 |
ACTA1 |
NM_001100.4(ACTA1):c.146T>G (p.Met49Arg) |
SNV |
Pathogenic
|
532772 |
rs1553255506 |
GRCh37: 1:229568611-229568611 GRCh38: 1:229432864-229432864 |
26 |
ACTA1 |
NM_001100.4(ACTA1):c.419C>G (p.Ala140Gly) |
SNV |
Pathogenic
|
565462 |
rs1435160117 |
GRCh37: 1:229568338-229568338 GRCh38: 1:229432591-229432591 |
27 |
ACTA1 |
NM_001100.4(ACTA1):c.36C>A (p.Cys12Ter) |
SNV |
Pathogenic
|
576643 |
rs1025502215 |
GRCh37: 1:229568827-229568827 GRCh38: 1:229433080-229433080 |
28 |
ACTA1 |
NM_001100.4(ACTA1):c.803T>C (p.Phe268Ser) |
SNV |
Pathogenic
|
577383 |
rs1558081605 |
GRCh37: 1:229567746-229567746 GRCh38: 1:229431999-229431999 |
29 |
ACTA1 |
NM_001100.4(ACTA1):c.275_277del (p.Phe92del) |
DEL |
Pathogenic
|
570214 |
rs1558082053 |
GRCh37: 1:229568480-229568482 GRCh38: 1:229432733-229432735 |
30 |
ACTA1 |
NM_001100.4(ACTA1):c.16G>A (p.Glu6Lys) |
SNV |
Pathogenic
|
42107 |
rs367543048 |
GRCh37: 1:229568847-229568847 GRCh38: 1:229433100-229433100 |
31 |
ACTA1 |
NM_001100.4(ACTA1):c.557A>G (p.Asp186Gly) |
SNV |
Pathogenic
|
644740 |
rs1571893319 |
GRCh37: 1:229568076-229568076 GRCh38: 1:229432329-229432329 |
32 |
ACTA1 |
NM_001100.4(ACTA1):c.616G>A (p.Ala206Thr) |
SNV |
Pathogenic
|
381641 |
rs1057521119 |
GRCh37: 1:229568017-229568017 GRCh38: 1:229432270-229432270 |
33 |
ACTA1 |
NM_001100.4(ACTA1):c.617C>T (p.Ala206Val) |
SNV |
Pathogenic
|
650485 |
rs1571893145 |
GRCh37: 1:229567932-229567932 GRCh38: 1:229432185-229432185 |
34 |
ACTA1 |
NM_001100.4(ACTA1):c.143G>A (p.Gly48Asp) |
SNV |
Pathogenic
|
42106 |
rs367543049 |
GRCh37: 1:229568614-229568614 GRCh38: 1:229432867-229432867 |
35 |
ACTA1 |
NM_001100.4(ACTA1):c.821C>A (p.Ala274Glu) |
SNV |
Pathogenic
|
654415 |
rs1553255357 |
GRCh37: 1:229567637-229567637 GRCh38: 1:229431890-229431890 |
36 |
ACTA1 |
NM_001100.4(ACTA1):c.809-2A>T |
SNV |
Pathogenic
|
617580 |
rs1301902450 |
GRCh37: 1:229567651-229567651 GRCh38: 1:229431904-229431904 |
37 |
ACTA1 |
NM_001100.4(ACTA1):c.712del (p.Leu238fs) |
DEL |
Pathogenic
|
662552 |
rs1211561143 |
GRCh37: 1:229567837-229567837 GRCh38: 1:229432090-229432090 |
38 |
ACTA1 |
NM_001100.4(ACTA1):c.489C>A (p.His163Gln) |
SNV |
Pathogenic
|
692085 |
rs1571893383 |
GRCh37: 1:229568144-229568144 GRCh38: 1:229432397-229432397 |
39 |
ACTA1 |
NM_001100.4(ACTA1):c.209A>G (p.Lys70Arg) |
SNV |
Pathogenic
|
801632 |
rs1571893885 |
GRCh37: 1:229568548-229568548 GRCh38: 1:229432801-229432801 |
40 |
ACTA1 |
NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu) |
SNV |
Pathogenic
|
807360 |
rs748592740 |
GRCh37: 1:229567811-229567811 GRCh38: 1:229432064-229432064 |
41 |
ACTA1 |
NM_001100.4(ACTA1):c.881A>T (p.Asp294Val) |
SNV |
Pathogenic
|
18289 |
rs121909529 |
GRCh37: 1:229567577-229567577 GRCh38: 1:229431830-229431830 |
42 |
ACTA1 |
NM_001100.4(ACTA1):c.842A>G (p.Tyr281Cys) |
SNV |
Pathogenic
|
848617 |
rs1659944113 |
GRCh37: 1:229567616-229567616 GRCh38: 1:229431869-229431869 |
43 |
ACTA1 |
NM_001100.4(ACTA1):c.767G>A (p.Arg256His) |
SNV |
Pathogenic
|
836935 |
rs1659954003 |
GRCh37: 1:229567782-229567782 GRCh38: 1:229432035-229432035 |
44 |
ACTA1 |
NM_001100.4(ACTA1):c.217dup (p.Ile73fs) |
DUP |
Pathogenic
|
817462 |
rs1571893878 |
GRCh37: 1:229568539-229568540 GRCh38: 1:229432792-229432793 |
45 |
ACTA1 |
NM_001100.4(ACTA1):c.143G>T (p.Gly48Val) |
SNV |
Pathogenic
|
843072 |
rs367543049 |
GRCh37: 1:229568614-229568614 GRCh38: 1:229432867-229432867 |
46 |
ACTA1 |
NM_001100.4(ACTA1):c.128A>G (p.Gln43Arg) |
SNV |
Pathogenic
|
844831 |
rs1659984269 |
GRCh37: 1:229568735-229568735 GRCh38: 1:229432988-229432988 |
47 |
ACTA1 |
NM_001100.4(ACTA1):c.427T>C (p.Ser143Pro) |
SNV |
Pathogenic
|
845550 |
rs1659973563 |
GRCh37: 1:229568330-229568330 GRCh38: 1:229432583-229432583 |
48 |
ACTA1 |
NM_001100.4(ACTA1):c.236C>T (p.Thr79Ile) |
SNV |
Pathogenic
|
941283 |
rs1659978452 |
GRCh37: 1:229568521-229568521 GRCh38: 1:229432774-229432774 |
49 |
ACTA1 |
NM_001100.4(ACTA1):c.49G>A (p.Gly17Ser) |
SNV |
Pathogenic
|
951759 |
rs121909521 |
GRCh37: 1:229568814-229568814 GRCh38: 1:229433067-229433067 |
50 |
ACTA1 |
NM_001100.4(ACTA1):c.282C>A (p.Asn94Lys) |
SNV |
Pathogenic
|
948238 |
rs772124885 |
GRCh37: 1:229568475-229568475 GRCh38: 1:229432728-229432728 |
51 |
ACTA1 |
NM_001100.4(ACTA1):c.868G>C (p.Asp290His) |
SNV |
Pathogenic
|
521371 |
rs1553255354 |
GRCh37: 1:229567590-229567590 GRCh38: 1:229431843-229431843 |
52 |
ACTA1 |
NM_001100.4(ACTA1):c.402G>T (p.Met134Ile) |
SNV |
Pathogenic
|
870613 |
rs1553255486 |
GRCh37: 1:229568355-229568355 GRCh38: 1:229432608-229432608 |
53 |
ACTA1 |
NM_001100.4(ACTA1):c.400A>G (p.Met134Val) |
SNV |
Pathogenic
|
1031830 |
rs1659974377 |
GRCh37: 1:229568357-229568357 GRCh38: 1:229432610-229432610 |
54 |
ACTA1 |
NM_001100.4(ACTA1):c.155_158del (p.Lys52fs) |
DEL |
Pathogenic
|
1069121 |
|
GRCh37: 1:229568599-229568602 GRCh38: 1:229432852-229432855 |
55 |
ACTA1 |
NM_001100.4(ACTA1):c.541del (p.Asp181fs) |
DEL |
Pathogenic
|
420100 |
rs759242559 |
GRCh37: 1:229568092-229568092 GRCh38: 1:229432345-229432345 |
56 |
ACTA1 |
NM_001100.4(ACTA1):c.599A>G (p.Tyr200Cys) |
SNV |
Pathogenic
|
1072266 |
|
GRCh37: 1:229568034-229568034 GRCh38: 1:229432287-229432287 |
57 |
ACTA1 |
NM_001100.4(ACTA1):c.841T>C (p.Tyr281His) |
SNV |
Pathogenic
|
1073998 |
|
GRCh37: 1:229567617-229567617 GRCh38: 1:229431870-229431870 |
58 |
ACTA1 |
NM_001100.4(ACTA1):c.821C>T (p.Ala274Val) |
SNV |
Pathogenic
|
432685 |
rs1553255357 |
GRCh37: 1:229567637-229567637 GRCh38: 1:229431890-229431890 |
59 |
ACTA1 |
NM_001100.4(ACTA1):c.181C>T (p.Gln61Ter) |
SNV |
Pathogenic
|
1074947 |
|
GRCh37: 1:229568576-229568576 GRCh38: 1:229432829-229432829 |
60 |
ACTA1 |
NM_001100.4(ACTA1):c.704C>A (p.Ser235Tyr) |
SNV |
Pathogenic
|
1456499 |
|
GRCh37: 1:229567845-229567845 GRCh38: 1:229432098-229432098 |
61 |
ACTA1 |
NM_001100.4(ACTA1):c.169G>C (p.Gly57Arg) |
SNV |
Pathogenic
|
1457959 |
|
GRCh37: 1:229568588-229568588 GRCh38: 1:229432841-229432841 |
62 |
ACTA1 |
NM_001100.4(ACTA1):c.1049C>T (p.Ser350Leu) |
SNV |
Pathogenic
|
1457948 |
|
GRCh37: 1:229567331-229567331 GRCh38: 1:229431584-229431584 |
63 |
ACTA1 |
NM_001100.4(ACTA1):c.846C>G (p.Asn282Lys) |
SNV |
Pathogenic
|
1457951 |
|
GRCh37: 1:229567612-229567612 GRCh38: 1:229431865-229431865 |
64 |
ACTA1 |
NM_001100.4(ACTA1):c.436del (p.Ala146fs) |
DEL |
Pathogenic
|
1459640 |
|
GRCh37: 1:229568321-229568321 GRCh38: 1:229432574-229432574 |
65 |
ACTA1 |
NM_001100.4(ACTA1):c.682G>T (p.Glu228Ter) |
SNV |
Pathogenic
|
807361 |
rs1558081664 |
GRCh37: 1:229567867-229567867 GRCh38: 1:229432120-229432120 |
66 |
ACTA1 |
NM_001100.4(ACTA1):c.591G>T (p.Glu197Asp) |
SNV |
Pathogenic
|
224412 |
rs869312739 |
GRCh37: 1:229568042-229568042 GRCh38: 1:229432295-229432295 |
67 |
ACTA1 |
NM_001100.4(ACTA1):c.509G>A (p.Gly170Asp) |
SNV |
Pathogenic
|
1452454 |
|
GRCh37: 1:229568124-229568124 GRCh38: 1:229432377-229432377 |
68 |
ACTA1 |
NM_001100.4(ACTA1):c.124C>T (p.His42Tyr) |
SNV |
Pathogenic
|
1452968 |
|
GRCh37: 1:229568739-229568739 GRCh38: 1:229432992-229432992 |
69 |
ACTA1 |
NM_001100.4(ACTA1):c.400del (p.Met134fs) |
DEL |
Pathogenic
|
1451534 |
|
GRCh37: 1:229568357-229568357 GRCh38: 1:229432610-229432610 |
70 |
ACTA1 |
NM_001100.4(ACTA1):c.359A>T (p.Lys120Met) |
SNV |
Pathogenic
|
1685499 |
|
GRCh37: 1:229568398-229568398 GRCh38: 1:229432651-229432651 |
71 |
ACTA1 |
NM_001100.4(ACTA1):c.350A>G (p.Asn117Ser) |
SNV |
Pathogenic
|
18280 |
rs121909520 |
GRCh37: 1:229568407-229568407 GRCh38: 1:229432660-229432660 |
72 |
ACTA1 |
NM_001100.4(ACTA1):c.739G>C (p.Gly247Arg) |
SNV |
Pathogenic
Likely Pathogenic
|
381639 |
rs1057521117 |
GRCh37: 1:229567810-229567810 GRCh38: 1:229432063-229432063 |
73 |
ACTA1 |
NM_001100.4(ACTA1):c.109G>C (p.Val37Leu) |
SNV |
Pathogenic
|
639455 |
rs1553255521 |
GRCh37: 1:229568754-229568754 GRCh38: 1:229433007-229433007 |
74 |
ACTA1 |
NM_001100.4(ACTA1):c.222G>T (p.Glu74Asp) |
SNV |
Pathogenic
|
18293 |
rs267606626 |
GRCh37: 1:229568535-229568535 GRCh38: 1:229432788-229432788 |
75 |
ACTA1 |
NM_001100.4(ACTA1):c.133G>T (p.Val45Phe) |
SNV |
Pathogenic
|
93548 |
rs398123562 |
GRCh37: 1:229568624-229568624 GRCh38: 1:229432877-229432877 |
76 |
ACTA1 |
NM_001100.4(ACTA1):c.990+1G>T |
SNV |
Pathogenic/Likely Pathogenic
|
464139 |
rs372686280 |
GRCh37: 1:229567467-229567467 GRCh38: 1:229431720-229431720 |
77 |
ACTA1 |
NM_001100.4(ACTA1):c.419C>A (p.Ala140Asp) |
SNV |
Pathogenic/Likely Pathogenic
|
1333773 |
|
GRCh37: 1:229568338-229568338 GRCh38: 1:229432591-229432591 |
78 |
ACTA1 |
NM_001100.4(ACTA1):c.1127G>T (p.Cys376Phe) |
SNV |
Pathogenic/Likely Pathogenic
|
801630 |
rs1571892196 |
GRCh37: 1:229567253-229567253 GRCh38: 1:229431506-229431506 |
79 |
ACTA1 |
NM_001100.4(ACTA1):c.1004C>G (p.Pro335Arg) |
SNV |
Likely Pathogenic
|
801631 |
rs1057518493 |
GRCh37: 1:229567376-229567376 GRCh38: 1:229431629-229431629 |
80 |
ACTA1 |
NM_001100.4(ACTA1):c.1130T>C (p.Phe377Ser) |
SNV |
Likely Pathogenic
|
692083 |
rs1571892193 |
GRCh37: 1:229567250-229567250 GRCh38: 1:229431503-229431503 |
81 |
ACTA1 |
NM_001100.4(ACTA1):c.172G>A (p.Asp58Asn) |
SNV |
Likely Pathogenic
|
427190 |
rs1085308014 |
GRCh37: 1:229568585-229568585 GRCh38: 1:229432838-229432838 |
82 |
ACTA1 |
NM_001100.4(ACTA1):c.592C>T (p.Arg198Cys) |
SNV |
Likely Pathogenic
|
948691 |
rs1659962016 |
GRCh37: 1:229568041-229568041 GRCh38: 1:229432294-229432294 |
83 |
ACTA1 |
NM_001100.4(ACTA1):c.39C>A (p.Asp13Glu) |
SNV |
Likely Pathogenic
|
951155 |
rs1659986880 |
GRCh37: 1:229568824-229568824 GRCh38: 1:229433077-229433077 |
84 |
ACTA1 |
NM_001100.4(ACTA1):c.347C>T (p.Ala116Val) |
SNV |
Likely Pathogenic
|
974928 |
rs1659975747 |
GRCh37: 1:229568410-229568410 GRCh38: 1:229432663-229432663 |
85 |
ACTA1 |
NM_001100.4(ACTA1):c.215C>G (p.Pro72Arg) |
SNV |
Likely Pathogenic
|
974929 |
rs1659978909 |
GRCh37: 1:229568542-229568542 GRCh38: 1:229432795-229432795 |
86 |
ACTA1 |
NM_001100.4(ACTA1):c.430C>T (p.Leu144Phe) |
SNV |
Likely Pathogenic
|
265457 |
rs886039557 |
GRCh37: 1:229568327-229568327 GRCh38: 1:229432580-229432580 |
87 |
ACTA1 |
NM_001100.4(ACTA1):c.1004C>T (p.Pro335Leu) |
SNV |
Likely Pathogenic
|
575911 |
rs1057518493 |
GRCh37: 1:229567376-229567376 GRCh38: 1:229431629-229431629 |
88 |
ACTA1 |
NM_001100.4(ACTA1):c.529A>G (p.Ile177Val) |
SNV |
Likely Pathogenic
|
617579 |
rs1558081804 |
GRCh37: 1:229568104-229568104 GRCh38: 1:229432357-229432357 |
89 |
ACTA1 |
NM_001100.4(ACTA1):c.682G>C (p.Glu228Gln) |
SNV |
Likely Pathogenic
|
579324 |
rs1558081664 |
GRCh37: 1:229567867-229567867 GRCh38: 1:229432120-229432120 |
90 |
ACTA1 |
NM_001100.4(ACTA1):c.812T>G (p.Met271Arg) |
SNV |
Likely Pathogenic
|
464135 |
rs1553255360 |
GRCh37: 1:229567646-229567646 GRCh38: 1:229431899-229431899 |
91 |
ACTA1 |
NM_001100.4(ACTA1):c.766C>T (p.Arg256Cys) |
SNV |
Likely Pathogenic
|
567852 |
rs1558081624 |
GRCh37: 1:229567783-229567783 GRCh38: 1:229432036-229432036 |
92 |
ACTA1 |
NM_001100.4(ACTA1):c.197T>A (p.Ile66Asn) |
SNV |
Likely Pathogenic
|
464119 |
rs1553255502 |
GRCh37: 1:229568560-229568560 GRCh38: 1:229432813-229432813 |
93 |
ACTA1 |
NM_001100.4(ACTA1):c.1054T>C (p.Ser352Pro) |
SNV |
Likely Pathogenic
|
464113 |
rs1553255301 |
GRCh37: 1:229567326-229567326 GRCh38: 1:229431579-229431579 |
94 |
ACTA1 |
NM_001100.4(ACTA1):c.923A>G (p.Tyr308Cys) |
SNV |
Likely Pathogenic
|
224672 |
rs878854374 |
GRCh37: 1:229567535-229567535 GRCh38: 1:229431788-229431788 |
95 |
ACTA1 |
NM_001100.4(ACTA1):c.521C>T (p.Pro174Leu) |
SNV |
Likely Pathogenic
|
374934 |
rs1057519311 |
GRCh37: 1:229568112-229568112 GRCh38: 1:229432365-229432365 |
96 |
ACTA1 |
NM_001100.4(ACTA1):c.413T>A (p.Ile138Asn) |
SNV |
Likely Pathogenic
|
128260 |
rs587780271 |
GRCh37: 1:229568344-229568344 GRCh38: 1:229432597-229432597 |
97 |
ACTA1 |
NM_001100.4(ACTA1):c.435C>A (p.Tyr145Ter) |
SNV |
Likely Pathogenic
|
280863 |
rs371410845 |
GRCh37: 1:229568322-229568322 GRCh38: 1:229432575-229432575 |
98 |
ACTA1 |
NM_001100.4(ACTA1):c.1123A>G (p.Lys375Glu) |
SNV |
Likely Pathogenic
|
662251 |
rs1571892209 |
GRCh37: 1:229567257-229567257 GRCh38: 1:229431510-229431510 |
99 |
ACTA1 |
NM_001100.4(ACTA1):c.350del (p.Asn117fs) |
DEL |
Likely Pathogenic
|
1029075 |
rs1659975666 |
GRCh37: 1:229568407-229568407 GRCh38: 1:229432660-229432660 |
100 |
ACTA1 |
NM_001100.4(ACTA1):c.1001C>G (p.Pro334Arg) |
SNV |
Likely Pathogenic
|
1031829 |
rs1553255312 |
GRCh37: 1:229567379-229567379 GRCh38: 1:229431632-229431632 |
101 |
ACTA1 |
NM_001100.4(ACTA1):c.617-5C>A |
SNV |
Likely Pathogenic
|
1051987 |
|
GRCh37: 1:229567937-229567937 GRCh38: 1:229432190-229432190 |
102 |
ACTA1 |
NM_001100.4(ACTA1):c.556G>A (p.Asp186Asn) |
SNV |
Likely Pathogenic
|
1467132 |
|
GRCh37: 1:229568077-229568077 GRCh38: 1:229432330-229432330 |
103 |
ACTA1 |
NM_001100.4(ACTA1):c.1043T>A (p.Leu348Gln) |
SNV |
Likely Pathogenic
|
1303122 |
|
GRCh37: 1:229567337-229567337 GRCh38: 1:229431590-229431590 |
104 |
ACTA1 |
NM_001100.4(ACTA1):c.286C>G (p.Leu96Val) |
SNV |
Likely Pathogenic
|
1348211 |
|
GRCh37: 1:229568471-229568471 GRCh38: 1:229432724-229432724 |
105 |
ACTA1 |
NM_001100.4(ACTA1):c.346G>A (p.Ala116Thr) |
SNV |
Likely Pathogenic
|
1475492 |
|
GRCh37: 1:229568411-229568411 GRCh38: 1:229432664-229432664 |
106 |
ACTA1 |
NM_001100.4(ACTA1):c.1106C>T (p.Pro369Leu) |
SNV |
Likely Pathogenic
|
431989 |
rs1553255293 |
GRCh37: 1:229567274-229567274 GRCh38: 1:229431527-229431527 |
107 |
ACTA1 |
NM_001100.4(ACTA1):c.142G>C (p.Gly48Arg) |
SNV |
Likely Pathogenic
|
1474488 |
|
GRCh37: 1:229568615-229568615 GRCh38: 1:229432868-229432868 |
108 |
ACTA1 |
NM_001100.4(ACTA1):c.762C>G (p.Asn254Lys) |
SNV |
Likely Pathogenic
|
1685233 |
|
GRCh37: 1:229567787-229567787 GRCh38: 1:229432040-229432040 |
109 |
ACTA1 |
NM_001100.4(ACTA1):c.402G>A (p.Met134Ile) |
SNV |
Likely Pathogenic
|
464122 |
rs1553255486 |
GRCh37: 1:229568355-229568355 GRCh38: 1:229432608-229432608 |
110 |
ACTA1 |
NM_001100.4(ACTA1):c.980T>A (p.Met327Lys) |
SNV |
Likely Pathogenic
|
1479985 |
|
GRCh37: 1:229567478-229567478 GRCh38: 1:229431731-229431731 |
111 |
ACTA1 |
NM_001100.4(ACTA1):c.442G>A (p.Gly148Ser) |
SNV |
Likely Pathogenic
|
93549 |
rs398123563 |
GRCh37: 1:229568315-229568315 GRCh38: 1:229432568-229432568 |
112 |
ACTA1 |
NM_001100.4(ACTA1):c.685A>G (p.Met229Val) |
SNV |
Likely Pathogenic
|
197716 |
rs794727714 |
GRCh37: 1:229567864-229567864 GRCh38: 1:229432117-229432117 |
113 |
ACTA1 |
NM_001100.4(ACTA1):c.1001C>T (p.Pro334Leu) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
532770 |
rs1553255312 |
GRCh37: 1:229567379-229567379 GRCh38: 1:229431632-229431632 |
114 |
ACTA1 |
NM_001100.4(ACTA1):c.108C>T (p.Ile36=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
296059 |
rs143948837 |
GRCh37: 1:229568755-229568755 GRCh38: 1:229433008-229433008 |
115 |
ACTA1 |
NM_001100.4(ACTA1):c.1125A>G (p.Lys375=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
464116 |
rs142311664 |
GRCh37: 1:229567255-229567255 GRCh38: 1:229431508-229431508 |
116 |
ACTA1 |
NM_001100.4(ACTA1):c.132C>T (p.Gly44=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
128259 |
rs146956806 |
GRCh37: 1:229568625-229568625 GRCh38: 1:229432878-229432878 |
117 |
ACTA1 |
NM_001100.4(ACTA1):c.478G>A (p.Gly160Ser) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
420707 |
rs1064794652 |
GRCh37: 1:229568155-229568155 GRCh38: 1:229432408-229432408 |
118 |
ACTA1 |
NM_001100.4(ACTA1):c.888T>C (p.Tyr296=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
740066 |
rs770931836 |
GRCh37: 1:229567570-229567570 GRCh38: 1:229431823-229431823 |
119 |
ACTA1 |
NM_001100.4(ACTA1):c.435C>T (p.Tyr145=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
874835 |
rs371410845 |
GRCh37: 1:229568322-229568322 GRCh38: 1:229432575-229432575 |
120 |
ACTA1 |
NM_001100.4(ACTA1):c.867C>T (p.Ile289=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
210091 |
rs140074813 |
GRCh37: 1:229567591-229567591 GRCh38: 1:229431844-229431844 |
121 |
ACTA1 |
NM_001100.4(ACTA1):c.786G>C (p.Thr262=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
706552 |
rs141030526 |
GRCh37: 1:229567763-229567763 GRCh38: 1:229432016-229432016 |
122 |
ACTA1 |
NM_001100.4(ACTA1):c.283G>A (p.Glu95Lys) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
654469 |
rs1571893814 |
GRCh37: 1:229568474-229568474 GRCh38: 1:229432727-229432727 |
123 |
ACTA1 |
NM_001100.4(ACTA1):c.965T>A (p.Leu322Gln) |
SNV |
Uncertain Significance
|
655648 |
rs1571892527 |
GRCh37: 1:229567493-229567493 GRCh38: 1:229431746-229431746 |
124 |
ACTA1 |
NM_001100.4(ACTA1):c.685A>T (p.Met229Leu) |
SNV |
Uncertain Significance
|
657321 |
rs794727714 |
GRCh37: 1:229567864-229567864 GRCh38: 1:229432117-229432117 |
125 |
ACTA1 |
NM_001100.4(ACTA1):c.659A>T (p.Tyr220Phe) |
SNV |
Uncertain Significance
|
659561 |
rs1571893107 |
GRCh37: 1:229567890-229567890 GRCh38: 1:229432143-229432143 |
126 |
ACTA1 |
NM_001100.4(ACTA1):c.121C>G (p.Arg41Gly) |
SNV |
Uncertain Significance
|
654180 |
rs1429699993 |
GRCh37: 1:229568742-229568742 GRCh38: 1:229432995-229432995 |
127 |
ACTA1 |
NM_001100.4(ACTA1):c.713T>C (p.Leu238Pro) |
SNV |
Uncertain Significance
|
642876 |
rs1571893051 |
GRCh37: 1:229567836-229567836 GRCh38: 1:229432089-229432089 |
128 |
ACTA1 |
NC_000001.11:g.(?_229431489)_(229433125_?)dup |
DUP |
Uncertain Significance
|
831733 |
|
GRCh37: 1:229567236-229568872 GRCh38: |
129 |
ACTA1 |
NM_001100.4(ACTA1):c.1071G>C (p.Met357Ile) |
SNV |
Uncertain Significance
|
835545 |
rs745494410 |
GRCh37: 1:229567309-229567309 GRCh38: 1:229431562-229431562 |
130 |
ACTA1 |
NM_001100.4(ACTA1):c.616+5G>A |
SNV |
Uncertain Significance
|
849844 |
rs773010488 |
GRCh37: 1:229568012-229568012 GRCh38: 1:229432265-229432265 |
131 |
ACTA1 |
NM_001100.4(ACTA1):c.460G>T (p.Val154Leu) |
SNV |
Uncertain Significance
|
855039 |
rs768144106 |
GRCh37: 1:229568173-229568173 GRCh38: 1:229432426-229432426 |
132 |
ACTA1 |
NM_001100.4(ACTA1):c.676G>A (p.Glu226Lys) |
SNV |
Uncertain Significance
|
858299 |
rs1057521118 |
GRCh37: 1:229567873-229567873 GRCh38: 1:229432126-229432126 |
133 |
ACTA1 |
NM_001100.4(ACTA1):c.391G>A (p.Val131Met) |
SNV |
Uncertain Significance
|
858634 |
rs1273559032 |
GRCh37: 1:229568366-229568366 GRCh38: 1:229432619-229432619 |
134 |
ACTA1 |
NM_001100.4(ACTA1):c.133G>A (p.Val45Ile) |
SNV |
Uncertain Significance
|
861879 |
rs398123562 |
GRCh37: 1:229568624-229568624 GRCh38: 1:229432877-229432877 |
135 |
ACTA1 |
NM_001100.4(ACTA1):c.809-10C>A |
SNV |
Uncertain Significance
|
862818 |
rs1659945481 |
GRCh37: 1:229567659-229567659 GRCh38: 1:229431912-229431912 |
136 |
ACTA1 |
NM_001100.4(ACTA1):c.*248G>A |
SNV |
Uncertain Significance
|
876668 |
rs551585351 |
GRCh37: 1:229566998-229566998 GRCh38: 1:229431251-229431251 |
137 |
ACTA1 |
NM_001100.4(ACTA1):c.*66G>A |
SNV |
Uncertain Significance
|
876669 |
rs1403018747 |
GRCh37: 1:229567180-229567180 GRCh38: 1:229431433-229431433 |
138 |
ACTA1 |
NM_001100.4(ACTA1):c.480C>A (p.Gly160=) |
SNV |
Uncertain Significance
|
876712 |
rs1571893385 |
GRCh37: 1:229568153-229568153 GRCh38: 1:229432406-229432406 |
139 |
ACTA1 |
NM_001100.4(ACTA1):c.81C>T (p.Asp27=) |
SNV |
Uncertain Significance
|
876767 |
rs1553255533 |
GRCh37: 1:229568782-229568782 GRCh38: 1:229433035-229433035 |
140 |
ACTA1 |
NM_001100.4(ACTA1):c.197T>G (p.Ile66Ser) |
SNV |
Uncertain Significance
|
947145 |
rs1553255502 |
GRCh37: 1:229568560-229568560 GRCh38: 1:229432813-229432813 |
141 |
ACTA1 |
NM_001100.4(ACTA1):c.323C>T (p.Thr108Ile) |
SNV |
Uncertain Significance
|
945505 |
rs1659976518 |
GRCh37: 1:229568434-229568434 GRCh38: 1:229432687-229432687 |
142 |
ACTA1 |
NM_001100.4(ACTA1):c.437C>T (p.Ala146Val) |
SNV |
Uncertain Significance
|
848385 |
rs1659973054 |
GRCh37: 1:229568320-229568320 GRCh38: 1:229432573-229432573 |
143 |
ACTA1 |
NM_001100.4(ACTA1):c.1128C>T (p.Cys376=) |
SNV |
Uncertain Significance
|
873830 |
rs1659932688 |
GRCh37: 1:229567252-229567252 GRCh38: 1:229431505-229431505 |
144 |
ACTA1 |
NM_001100.4(ACTA1):c.453C>G (p.Thr151=) |
SNV |
Uncertain Significance
|
873885 |
rs76030344 |
GRCh37: 1:229568304-229568304 GRCh38: 1:229432557-229432557 |
145 |
ACTA1 |
NM_001100.4(ACTA1):c.1057A>G (p.Thr353Ala) |
SNV |
Uncertain Significance
|
843807 |
rs1659934469 |
GRCh37: 1:229567323-229567323 GRCh38: 1:229431576-229431576 |
146 |
ACTA1 |
NM_001100.4(ACTA1):c.866T>A (p.Ile289Asn) |
SNV |
Uncertain Significance
|
952017 |
rs1659943773 |
GRCh37: 1:229567592-229567592 GRCh38: 1:229431845-229431845 |
147 |
ACTA1 |
NM_001100.4(ACTA1):c.119C>G (p.Pro40Arg) |
SNV |
Uncertain Significance
|
954259 |
rs1659984455 |
GRCh37: 1:229568744-229568744 GRCh38: 1:229432997-229432997 |
148 |
ACTA1 |
NM_001100.4(ACTA1):c.964C>G (p.Leu322Val) |
SNV |
Uncertain Significance
|
956562 |
rs1659940726 |
GRCh37: 1:229567494-229567494 GRCh38: 1:229431747-229431747 |
149 |
ACTA1 |
NM_001100.4(ACTA1):c.60A>C (p.Lys20Asn) |
SNV |
Uncertain Significance
|
958807 |
rs1659986226 |
GRCh37: 1:229568803-229568803 GRCh38: 1:229433056-229433056 |
150 |
ACTA1 |
NM_001100.4(ACTA1):c.334C>A (p.Leu112Ile) |
SNV |
Uncertain Significance
|
1034583 |
rs146508471 |
GRCh37: 1:229568423-229568423 GRCh38: 1:229432676-229432676 |
151 |
ACTA1 |
NM_001100.4(ACTA1):c.616+4C>G |
SNV |
Uncertain Significance
|
1041733 |
rs371799971 |
GRCh37: 1:229568013-229568013 GRCh38: 1:229432266-229432266 |
152 |
ACTA1 |
NM_001100.4(ACTA1):c.346G>T (p.Ala116Ser) |
SNV |
Uncertain Significance
|
1042202 |
rs1659975786 |
GRCh37: 1:229568411-229568411 GRCh38: 1:229432664-229432664 |
153 |
ACTA1 |
NM_001100.4(ACTA1):c.727G>A (p.Glu243Lys) |
SNV |
Uncertain Significance
|
42109 |
rs367543051 |
GRCh37: 1:229567822-229567822 GRCh38: 1:229432075-229432075 |
154 |
ACTA1 |
NM_001100.4(ACTA1):c.983_985del (p.Lys328del) |
DEL |
Uncertain Significance
|
1003875 |
rs1659939983 |
GRCh37: 1:229567473-229567475 GRCh38: 1:229431726-229431728 |
155 |
ACTA1 |
NM_001100.4(ACTA1):c.442G>C (p.Gly148Arg) |
SNV |
Uncertain Significance
|
280732 |
rs398123563 |
GRCh37: 1:229568315-229568315 GRCh38: 1:229432568-229432568 |
156 |
ACTA1 |
NM_001100.4(ACTA1):c.742C>A (p.Gln248Lys) |
SNV |
Uncertain Significance
|
1015544 |
rs1659954634 |
GRCh37: 1:229567807-229567807 GRCh38: 1:229432060-229432060 |
157 |
ACTA1 |
NM_001100.4(ACTA1):c.515C>T (p.Ala172Val) |
SNV |
Uncertain Significance
|
1018348 |
rs587780272 |
GRCh37: 1:229568118-229568118 GRCh38: 1:229432371-229432371 |
158 |
ACTA1 |
NM_001100.4(ACTA1):c.539T>C (p.Leu180Pro) |
SNV |
Uncertain Significance
|
560935 |
rs1558081797 |
GRCh37: 1:229568094-229568094 GRCh38: 1:229432347-229432347 |
159 |
ACTA1 |
NM_001100.4(ACTA1):c.82G>C (p.Ala28Pro) |
SNV |
Uncertain Significance
|
560936 |
rs546670743 |
GRCh37: 1:229568781-229568781 GRCh38: 1:229433034-229433034 |
160 |
ACTA1 |
NM_001100.4(ACTA1):c.168G>A (p.Val56=) |
SNV |
Uncertain Significance
|
567148 |
rs765413340 |
GRCh37: 1:229568589-229568589 GRCh38: 1:229432842-229432842 |
161 |
ACTA1 |
NM_001100.4(ACTA1):c.897C>A (p.Asn299Lys) |
SNV |
Uncertain Significance
|
581898 |
rs533868659 |
GRCh37: 1:229567561-229567561 GRCh38: 1:229431814-229431814 |
162 |
ACTA1 |
NM_001100.4(ACTA1):c.148G>T (p.Gly50Cys) |
SNV |
Uncertain Significance
|
582273 |
rs1558082103 |
GRCh37: 1:229568609-229568609 GRCh38: 1:229432862-229432862 |
163 |
ACTA1 |
NM_001100.4(ACTA1):c.1003C>G (p.Pro335Ala) |
SNV |
Uncertain Significance
|
583243 |
rs1558081384 |
GRCh37: 1:229567377-229567377 GRCh38: 1:229431630-229431630 |
164 |
ACTA1 |
NM_001100.4(ACTA1):c.1031G>A (p.Gly344Asp) |
SNV |
Uncertain Significance
|
573874 |
rs1558081360 |
GRCh37: 1:229567349-229567349 GRCh38: 1:229431602-229431602 |
165 |
ACTA1 |
NM_001100.4(ACTA1):c.389A>G (p.Asn130Ser) |
SNV |
Uncertain Significance
|
464121 |
rs766934634 |
GRCh37: 1:229568368-229568368 GRCh38: 1:229432621-229432621 |
166 |
ACTA1 |
NM_001100.4(ACTA1):c.454+3G>T |
SNV |
Uncertain Significance
|
296057 |
rs200976037 |
GRCh37: 1:229568300-229568300 GRCh38: 1:229432553-229432553 |
167 |
ACTA1 |
NM_001100.4(ACTA1):c.963_968del (p.Leu322_Ala323del) |
DEL |
Uncertain Significance
|
464137 |
rs1553255336 |
GRCh37: 1:229567490-229567495 GRCh38: 1:229431743-229431748 |
168 |
ACTA1 |
NM_001100.4(ACTA1):c.676G>C (p.Glu226Gln) |
SNV |
Uncertain Significance
|
381640 |
rs1057521118 |
GRCh37: 1:229567873-229567873 GRCh38: 1:229432126-229432126 |
169 |
ACTA1 |
NM_001100.4(ACTA1):c.796C>T (p.Pro266Ser) |
SNV |
Uncertain Significance
|
532773 |
rs1553255405 |
GRCh37: 1:229567753-229567753 GRCh38: 1:229432006-229432006 |
170 |
ACTA1 |
NM_001100.4(ACTA1):c.1074G>T (p.Trp358Cys) |
SNV |
Uncertain Significance
|
127188 |
rs587777354 |
GRCh37: 1:229567306-229567306 GRCh38: 1:229431559-229431559 |
171 |
ACTA1 |
NM_001100.4(ACTA1):c.981G>C (p.Met327Ile) |
SNV |
Uncertain Significance
|
464138 |
rs1553255334 |
GRCh37: 1:229567477-229567477 GRCh38: 1:229431730-229431730 |
172 |
ACTA1 |
NM_001100.4(ACTA1):c.606C>A (p.Phe202Leu) |
SNV |
Uncertain Significance
|
464127 |
rs1255258064 |
GRCh37: 1:229568027-229568027 GRCh38: 1:229432280-229432280 |
173 |
ACTA1 |
NM_001100.4(ACTA1):c.461_478del (p.Val154_Asp159del) |
DEL |
Uncertain Significance
|
464124 |
rs1553255444 |
GRCh37: 1:229568155-229568172 GRCh38: 1:229432408-229432425 |
174 |
ACTA1 |
NM_001100.4(ACTA1):c.966G>A (p.Leu322=) |
SNV |
Uncertain Significance
|
296052 |
rs765996798 |
GRCh37: 1:229567492-229567492 GRCh38: 1:229431745-229431745 |
175 |
ACTA1 |
NM_001100.4(ACTA1):c.1113C>G (p.Ile371Met) |
SNV |
Uncertain Significance
|
296051 |
rs886046075 |
GRCh37: 1:229567267-229567267 GRCh38: 1:229431520-229431520 |
176 |
ACTA1 |
NM_001100.4(ACTA1):c.811A>G (p.Met271Val) |
SNV |
Uncertain Significance
|
464134 |
rs1553255361 |
GRCh37: 1:229567647-229567647 GRCh38: 1:229431900-229431900 |
177 |
ACTA1 |
NM_001100.4(ACTA1):c.129+14T>C |
SNV |
Uncertain Significance
|
296058 |
rs886046076 |
GRCh37: 1:229568720-229568720 GRCh38: 1:229432973-229432973 |
178 |
ACTA1 |
NM_001100.4(ACTA1):c.1109C>A (p.Ser370Tyr) |
SNV |
Uncertain Significance
|
464115 |
rs1553255290 |
GRCh37: 1:229567271-229567271 GRCh38: 1:229431524-229431524 |
179 |
ACTA1 |
NM_001100.4(ACTA1):c.1014A>C (p.Lys338Asn) |
SNV |
Uncertain Significance
|
464112 |
rs1553255306 |
GRCh37: 1:229567366-229567366 GRCh38: 1:229431619-229431619 |
180 |
ACTA1 |
NM_001100.4(ACTA1):c.808+6C>A |
SNV |
Uncertain Significance
|
464131 |
rs200342114 |
GRCh37: 1:229567735-229567735 GRCh38: 1:229431988-229431988 |
181 |
ACTA1 |
NM_001100.4(ACTA1):c.425T>C (p.Leu142Pro) |
SNV |
Uncertain Significance
|
464123 |
rs1553255482 |
GRCh37: 1:229568332-229568332 GRCh38: 1:229432585-229432585 |
182 |
ACTA1 |
NM_001100.4(ACTA1):c.453C>T (p.Thr151=) |
SNV |
Uncertain Significance
|
464118 |
rs76030344 |
GRCh37: 1:229568304-229568304 GRCh38: 1:229432557-229432557 |
183 |
ACTA1 |
NM_001100.4(ACTA1):c.898G>T (p.Val300Phe) |
SNV |
Uncertain Significance
|
464136 |
rs1553255349 |
GRCh37: 1:229567560-229567560 GRCh38: 1:229431813-229431813 |
184 |
ACTA1 |
NM_001100.4(ACTA1):c.80A>G (p.Asp27Gly) |
SNV |
Uncertain Significance
|
464133 |
rs1553255534 |
GRCh37: 1:229568783-229568783 GRCh38: 1:229433036-229433036 |
185 |
ACTA1 |
NM_001100.4(ACTA1):c.158A>T (p.Asp53Val) |
SNV |
Uncertain Significance
|
1679829 |
|
GRCh37: 1:229568599-229568599 GRCh38: 1:229432852-229432852 |
186 |
ACTA1 |
NM_001100.4(ACTA1):c.532A>C (p.Met178Leu) |
SNV |
Uncertain Significance
|
1713410 |
|
GRCh37: 1:229568101-229568101 GRCh38: 1:229432354-229432354 |
187 |
ACTA1 |
NM_001100.4(ACTA1):c.797C>T (p.Pro266Leu) |
SNV |
Uncertain Significance
|
1714078 |
|
GRCh37: 1:229567752-229567752 GRCh38: 1:229432005-229432005 |
188 |
ACTA1 |
NM_001100.4(ACTA1):c.37G>A (p.Asp13Asn) |
SNV |
Uncertain Significance
|
642798 |
rs1571894217 |
GRCh37: 1:229568826-229568826 GRCh38: 1:229433079-229433079 |
189 |
ACTA1 |
NM_001100.4(ACTA1):c.446G>A (p.Arg149Lys) |
SNV |
Uncertain Significance
|
93550 |
rs398123564 |
GRCh37: 1:229568311-229568311 GRCh38: 1:229432564-229432564 |
190 |
ACTA1 |
NM_001100.4(ACTA1):c.587C>T (p.Thr196Ile) |
SNV |
Uncertain Significance
|
1447156 |
|
GRCh37: 1:229568046-229568046 GRCh38: 1:229432299-229432299 |
191 |
ACTA1 |
NM_001100.4(ACTA1):c.749T>C (p.Ile250Thr) |
SNV |
Uncertain Significance
|
1180752 |
|
GRCh37: 1:229567800-229567800 GRCh38: 1:229432053-229432053 |
192 |
ACTA1 |
NM_001100.4(ACTA1):c.82_83delinsTG (p.Ala28Cys) |
INDEL |
Uncertain Significance
|
1404743 |
|
GRCh37: 1:229568780-229568781 GRCh38: 1:229433033-229433034 |
193 |
ACTA1 |
NM_001100.4(ACTA1):c.131G>T (p.Gly44Val) |
SNV |
Uncertain Significance
|
1403375 |
|
GRCh37: 1:229568626-229568626 GRCh38: 1:229432879-229432879 |
194 |
ACTA1 |
NM_001100.4(ACTA1):c.455-9C>G |
SNV |
Uncertain Significance
|
1403501 |
|
GRCh37: 1:229568187-229568187 GRCh38: 1:229432440-229432440 |
195 |
ACTA1 |
NM_001100.4(ACTA1):c.425T>G (p.Leu142Arg) |
SNV |
Uncertain Significance
|
1409843 |
|
GRCh37: 1:229568332-229568332 GRCh38: 1:229432585-229432585 |
196 |
ACTA1 |
NM_001100.4(ACTA1):c.911G>A (p.Gly304Asp) |
SNV |
Uncertain Significance
|
1366585 |
|
GRCh37: 1:229567547-229567547 GRCh38: 1:229431800-229431800 |
197 |
ACTA1 |
NM_001100.4(ACTA1):c.800C>G (p.Ser267Cys) |
SNV |
Uncertain Significance
|
1502214 |
|
GRCh37: 1:229567749-229567749 GRCh38: 1:229432002-229432002 |
198 |
ACTA1 |
NM_001100.4(ACTA1):c.40A>T (p.Asn14Tyr) |
SNV |
Uncertain Significance
|
1485789 |
|
GRCh37: 1:229568823-229568823 GRCh38: 1:229433076-229433076 |
199 |
ACTA1 |
NM_001100.4(ACTA1):c.455-8G>A |
SNV |
Uncertain Significance
|
1524973 |
|
GRCh37: 1:229568186-229568186 GRCh38: 1:229432439-229432439 |
200 |
ACTA1 |
NM_001100.4(ACTA1):c.191G>T (p.Arg64Ile) |
SNV |
Uncertain Significance
|
1489557 |
|
GRCh37: 1:229568566-229568566 GRCh38: 1:229432819-229432819 |
201 |
ACTA1 |
NM_001100.4(ACTA1):c.517C>A (p.Leu173Met) |
SNV |
Uncertain Significance
|
1450632 |
|
GRCh37: 1:229568116-229568116 GRCh38: 1:229432369-229432369 |
202 |
ACTA1 |
NM_001100.4(ACTA1):c.922T>C (p.Tyr308His) |
SNV |
Uncertain Significance
|
1349349 |
|
GRCh37: 1:229567536-229567536 GRCh38: 1:229431789-229431789 |
203 |
ACTA1 |
NM_001100.4(ACTA1):c.622C>A (p.Arg208Ser) |
SNV |
Uncertain Significance
|
1351681 |
|
GRCh37: 1:229567927-229567927 GRCh38: 1:229432180-229432180 |
204 |
ACTA1 |
NM_001100.4(ACTA1):c.153G>C (p.Gln51His) |
SNV |
Uncertain Significance
|
1349618 |
|
GRCh37: 1:229568604-229568604 GRCh38: 1:229432857-229432857 |
205 |
ACTA1 |
NM_001100.4(ACTA1):c.1044_1060del (p.Ala349fs) |
DEL |
Uncertain Significance
|
1514282 |
|
GRCh37: 1:229567320-229567336 GRCh38: 1:229431573-229431589 |
206 |
ACTA1 |
NM_001100.4(ACTA1):c.616+4C>T |
SNV |
Uncertain Significance
|
1515742 |
|
GRCh37: 1:229568013-229568013 GRCh38: 1:229432266-229432266 |
207 |
ACTA1 |
NM_001100.4(ACTA1):c.452C>A (p.Thr151Asn) |
SNV |
Uncertain Significance
|
1522830 |
|
GRCh37: 1:229568305-229568305 GRCh38: 1:229432558-229432558 |
208 |
ACTA1 |
NM_001100.4(ACTA1):c.104C>G (p.Ser35Cys) |
SNV |
Uncertain Significance
|
1463480 |
|
GRCh37: 1:229568759-229568759 GRCh38: 1:229433012-229433012 |
209 |
ACTA1 |
NM_001100.4(ACTA1):c.697_698delinsAA (p.Ala233Asn) |
INDEL |
Uncertain Significance
|
1469898 |
|
GRCh37: 1:229567851-229567852 GRCh38: 1:229432104-229432105 |
210 |
ACTA1 |
NM_001100.4(ACTA1):c.82G>T (p.Ala28Ser) |
SNV |
Uncertain Significance
|
1428668 |
|
GRCh37: 1:229568781-229568781 GRCh38: 1:229433034-229433034 |
211 |
ACTA1 |
NM_001100.4(ACTA1):c.808+3G>A |
SNV |
Uncertain Significance
|
1469599 |
|
GRCh37: 1:229567738-229567738 GRCh38: 1:229431991-229431991 |
212 |
ACTA1 |
NM_001100.4(ACTA1):c.757G>T (p.Gly253Cys) |
SNV |
Uncertain Significance
|
1052696 |
|
GRCh37: 1:229567792-229567792 GRCh38: 1:229432045-229432045 |
213 |
ACTA1 |
NM_001100.4(ACTA1):c.113G>A (p.Gly38Asp) |
SNV |
Uncertain Significance
|
1054689 |
|
GRCh37: 1:229568750-229568750 GRCh38: 1:229433003-229433003 |
214 |
ACTA1 |
NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro) |
SNV |
Uncertain Significance
|
18290 |
rs121909530 |
GRCh37: 1:229567881-229567881 GRCh38: 1:229432134-229432134 |
215 |
ACTA1 |
NM_001100.4(ACTA1):c.282C>T (p.Asn94=) |
SNV |
Likely Benign
|
1085786 |
|
GRCh37: 1:229568475-229568475 GRCh38: 1:229432728-229432728 |
216 |
ACTA1 |
NM_001100.4(ACTA1):c.1065G>A (p.Gln355=) |
SNV |
Likely Benign
|
510989 |
rs375945657 |
GRCh37: 1:229567315-229567315 GRCh38: 1:229431568-229431568 |
217 |
ACTA1 |
NM_001100.4(ACTA1):c.102G>T (p.Pro34=) |
SNV |
Likely Benign
|
1089251 |
|
GRCh37: 1:229568761-229568761 GRCh38: 1:229433014-229433014 |
218 |
ACTA1 |
NM_001100.4(ACTA1):c.462G>T (p.Val154=) |
SNV |
Likely Benign
|
1092038 |
|
GRCh37: 1:229568171-229568171 GRCh38: 1:229432424-229432424 |
219 |
ACTA1 |
NM_001100.4(ACTA1):c.423G>A (p.Val141=) |
SNV |
Likely Benign
|
747726 |
rs553019935 |
GRCh37: 1:229568334-229568334 GRCh38: 1:229432587-229432587 |
220 |
ACTA1 |
NM_001100.4(ACTA1):c.1050G>T (p.Ser350=) |
SNV |
Likely Benign
|
1098969 |
|
GRCh37: 1:229567330-229567330 GRCh38: 1:229431583-229431583 |
221 |
ACTA1 |
NM_001100.4(ACTA1):c.24C>A (p.Thr8=) |
SNV |
Likely Benign
|
464120 |
rs762659680 |
GRCh37: 1:229568839-229568839 GRCh38: 1:229433092-229433092 |
222 |
ACTA1 |
NM_001100.4(ACTA1):c.454+10C>A |
SNV |
Likely Benign
|
1104791 |
|
GRCh37: 1:229568293-229568293 GRCh38: 1:229432546-229432546 |
223 |
ACTA1 |
NM_001100.4(ACTA1):c.808+9C>A |
SNV |
Likely Benign
|
1110090 |
|
GRCh37: 1:229567732-229567732 GRCh38: 1:229431985-229431985 |
224 |
ACTA1 |
NM_001100.4(ACTA1):c.555C>T (p.Arg185=) |
SNV |
Likely Benign
|
760465 |
rs759606148 |
GRCh37: 1:229568078-229568078 GRCh38: 1:229432331-229432331 |
225 |
ACTA1 |
NM_001100.4(ACTA1):c.441C>T (p.Ser147=) |
SNV |
Likely Benign
|
1139429 |
|
GRCh37: 1:229568316-229568316 GRCh38: 1:229432569-229432569 |
226 |
ACTA1 |
NM_001100.4(ACTA1):c.141C>A (p.Val47=) |
SNV |
Likely Benign
|
740686 |
rs535751046 |
GRCh37: 1:229568616-229568616 GRCh38: 1:229432869-229432869 |
227 |
ACTA1 |
NM_001100.4(ACTA1):c.312C>G (p.Pro104=) |
SNV |
Likely Benign
|
1147290 |
|
GRCh37: 1:229568445-229568445 GRCh38: 1:229432698-229432698 |
228 |
ACTA1 |
NM_001100.4(ACTA1):c.882C>T (p.Asp294=) |
SNV |
Likely Benign
|
1154282 |
|
GRCh37: 1:229567576-229567576 GRCh38: 1:229431829-229431829 |
229 |
ACTA1 |
NM_001100.4(ACTA1):c.693G>A (p.Thr231=) |
SNV |
Likely Benign
|
1155353 |
|
GRCh37: 1:229567856-229567856 GRCh38: 1:229432109-229432109 |
230 |
ACTA1 |
NM_001100.4(ACTA1):c.459C>A (p.Ile153=) |
SNV |
Likely Benign
|
739515 |
rs780711799 |
GRCh37: 1:229568174-229568174 GRCh38: 1:229432427-229432427 |
231 |
ACTA1 |
NM_001100.4(ACTA1):c.546G>A (p.Leu182=) |
SNV |
Likely Benign
|
1159785 |
|
GRCh37: 1:229568087-229568087 GRCh38: 1:229432340-229432340 |
232 |
ACTA1 |
NM_001100.4(ACTA1):c.130-9G>T |
SNV |
Likely Benign
|
464117 |
rs1553255511 |
GRCh37: 1:229568636-229568636 GRCh38: 1:229432889-229432889 |
233 |
ACTA1 |
NM_001100.4(ACTA1):c.774C>T (p.Arg258=) |
SNV |
Likely Benign
|
1160790 |
|
GRCh37: 1:229567775-229567775 GRCh38: 1:229432028-229432028 |
234 |
ACTA1 |
NM_001100.4(ACTA1):c.730C>T (p.Leu244=) |
SNV |
Likely Benign
|
1578392 |
|
GRCh37: 1:229567819-229567819 GRCh38: 1:229432072-229432072 |
235 |
ACTA1 |
NM_001100.4(ACTA1):c.588T>C (p.Thr196=) |
SNV |
Likely Benign
|
1580574 |
|
GRCh37: 1:229568045-229568045 GRCh38: 1:229432298-229432298 |
236 |
ACTA1 |
NM_001100.4(ACTA1):c.555C>A (p.Arg185=) |
SNV |
Likely Benign
|
1618711 |
|
GRCh37: 1:229568078-229568078 GRCh38: 1:229432331-229432331 |
237 |
ACTA1 |
NM_001100.4(ACTA1):c.744G>A (p.Gln248=) |
SNV |
Likely Benign
|
1589183 |
|
GRCh37: 1:229567805-229567805 GRCh38: 1:229432058-229432058 |
238 |
ACTA1 |
NM_001100.4(ACTA1):c.809-18_809-17insT |
INSERT |
Likely Benign
|
1531300 |
|
GRCh37: 1:229567666-229567667 GRCh38: 1:229431919-229431920 |
239 |
ACTA1 |
NM_001100.4(ACTA1):c.809-14G>T |
SNV |
Likely Benign
|
1621819 |
|
GRCh37: 1:229567663-229567663 GRCh38: 1:229431916-229431916 |
240 |
ACTA1 |
NM_001100.4(ACTA1):c.130-5_130-4inv |
INVERS |
Likely Benign
|
1597695 |
|
GRCh37: 1:229568631-229568632 GRCh38: 1:229432884-229432885 |
241 |
ACTA1 |
NM_001100.4(ACTA1):c.130-11C>G |
SNV |
Likely Benign
|
1587987 |
|
GRCh37: 1:229568638-229568638 GRCh38: 1:229432891-229432891 |
242 |
ACTA1 |
NM_001100.4(ACTA1):c.129+20G>C |
SNV |
Likely Benign
|
1588019 |
|
GRCh37: 1:229568714-229568714 GRCh38: 1:229432967-229432967 |
243 |
ACTA1 |
NM_001100.4(ACTA1):c.809-14_809-13insA |
INSERT |
Likely Benign
|
296054 |
rs749384329 |
GRCh37: 1:229567662-229567663 GRCh38: 1:229431915-229431916 |
244 |
ACTA1 |
NM_001100.4(ACTA1):c.808+13C>T |
SNV |
Likely Benign
|
257448 |
rs539461449 |
GRCh37: 1:229567728-229567728 GRCh38: 1:229431981-229431981 |
245 |
ACTA1 |
NM_001100.4(ACTA1):c.454+11G>A |
SNV |
Likely Benign
|
384485 |
rs551674486 |
GRCh37: 1:229568292-229568292 GRCh38: 1:229432545-229432545 |
246 |
ACTA1 |
NM_001100.4(ACTA1):c.990+6TGG[3] |
MICROSAT |
Likely Benign
|
1633317 |
|
GRCh37: 1:229567456-229567457 GRCh38: 1:229431709-229431710 |
247 |
ACTA1 |
NM_001100.4(ACTA1):c.984G>A (p.Lys328=) |
SNV |
Likely Benign
|
1608770 |
|
GRCh37: 1:229567474-229567474 GRCh38: 1:229431727-229431727 |
248 |
ACTA1 |
NM_001100.4(ACTA1):c.616+19C>A |
SNV |
Likely Benign
|
1650572 |
|
GRCh37: 1:229567998-229567998 GRCh38: 1:229432251-229432251 |
249 |
ACTA1 |
NM_001100.4(ACTA1):c.616+19C>T |
SNV |
Likely Benign
|
1557001 |
|
GRCh37: 1:229567998-229567998 GRCh38: 1:229432251-229432251 |
250 |
ACTA1 |
NM_001100.4(ACTA1):c.454+15C>A |
SNV |
Likely Benign
|
1665648 |
|
GRCh37: 1:229568288-229568288 GRCh38: 1:229432541-229432541 |
251 |
ACTA1 |
NM_001100.4(ACTA1):c.960C>T (p.Thr320=) |
SNV |
Likely Benign
|
1570358 |
|
GRCh37: 1:229567498-229567498 GRCh38: 1:229431751-229431751 |
252 |
ACTA1 |
NM_001100.4(ACTA1):c.645G>A (p.Lys215=) |
SNV |
Likely Benign
|
464129 |
rs1553255420 |
GRCh37: 1:229567904-229567904 GRCh38: 1:229432157-229432157 |
253 |
ACTA1 |
NM_001100.4(ACTA1):c.963G>A (p.Ala321=) |
SNV |
Likely Benign
|
703933 |
rs374599062 |
GRCh37: 1:229567495-229567495 GRCh38: 1:229431748-229431748 |
254 |
ACTA1 |
NM_001100.4(ACTA1):c.324C>A (p.Thr108=) |
SNV |
Likely Benign
|
705421 |
rs41271479 |
GRCh37: 1:229568433-229568433 GRCh38: 1:229432686-229432686 |
255 |
ACTA1 |
NM_001100.4(ACTA1):c.246T>C (p.Asp82=) |
SNV |
Likely Benign
|
210090 |
rs373785144 |
GRCh37: 1:229568511-229568511 GRCh38: 1:229432764-229432764 |
256 |
ACTA1 |
NM_001100.4(ACTA1):c.963G>C (p.Ala321=) |
SNV |
Likely Benign
|
746758 |
rs374599062 |
GRCh37: 1:229567495-229567495 GRCh38: 1:229431748-229431748 |
257 |
ACTA1 |
NM_001100.4(ACTA1):c.117C>T (p.Arg39=) |
SNV |
Likely Benign
|
767394 |
rs369113039 |
GRCh37: 1:229568746-229568746 GRCh38: 1:229432999-229432999 |
258 |
ACTA1 |
NM_001100.4(ACTA1):c.300C>G (p.Pro100=) |
SNV |
Likely Benign
|
799786 |
rs1571893786 |
GRCh37: 1:229568457-229568457 GRCh38: 1:229432710-229432710 |
259 |
ACTA1 |
NM_001100.4(ACTA1):c.549G>A (p.Ala183=) |
SNV |
Benign/Likely Benign
|
296056 |
rs200094415 |
GRCh37: 1:229568084-229568084 GRCh38: 1:229432337-229432337 |
260 |
ACTA1 |
NM_001100.4(ACTA1):c.809-13dup |
DUP |
Benign
|
93551 |
rs201427429 |
GRCh37: 1:229567660-229567661 GRCh38: 1:229431913-229431914 |
261 |
ACTA1 |
NM_001100.4(ACTA1):c.454+15C>T |
SNV |
Benign
|
682261 |
rs201388631 |
GRCh37: 1:229568288-229568288 GRCh38: 1:229432541-229432541 |
262 |
ACTA1 |
NM_001100.4(ACTA1):c.129+16C>T |
SNV |
Benign
|
385202 |
rs148084911 |
GRCh37: 1:229568718-229568718 GRCh38: 1:229432971-229432971 |
263 |
ACTA1 |
NM_001100.4(ACTA1):c.130-20G>T |
SNV |
Benign
|
1629709 |
|
GRCh37: 1:229568647-229568647 GRCh38: 1:229432900-229432900 |
264 |
ACTA1 |
NM_001100.4(ACTA1):c.809-18dup |
DUP |
Benign
|
93553 |
rs398123565 |
GRCh37: 1:229567663-229567664 GRCh38: 1:229431916-229431917 |
265 |
ACTA1 |
NM_001100.4(ACTA1):c.455-53A>C |
SNV |
Benign
|
676564 |
rs527621 |
GRCh37: 1:229568231-229568231 GRCh38: 1:229432484-229432484 |
266 |
ACTA1 |
NM_001100.4(ACTA1):c.453C>A (p.Thr151=) |
SNV |
Benign
|
257445 |
rs76030344 |
GRCh37: 1:229568304-229568304 GRCh38: 1:229432557-229432557 |
267 |
LOC122152321, ACTA1 |
NM_001100.4(ACTA1):c.-66C>T |
SNV |
Benign
|
296062 |
rs605428 |
GRCh37: 1:229569804-229569804 GRCh38: 1:229434057-229434057 |
268 |
ACTA1 |
NM_001100.4(ACTA1):c.130-5T>C |
SNV |
Benign
|
93547 |
rs11803533 |
GRCh37: 1:229568632-229568632 GRCh38: 1:229432885-229432885 |
269 |
LOC122152321, ACTA1 |
NM_001100.4(ACTA1):c.-65T>C |
SNV |
Benign
|
296060 |
rs605430 |
GRCh37: 1:229569803-229569803 GRCh38: 1:229434056-229434056 |
270 |
ACTA1 |
NM_001100.4(ACTA1):c.130-10G>C |
SNV |
Benign
|
93546 |
rs41271481 |
GRCh37: 1:229568637-229568637 GRCh38: 1:229432890-229432890 |
271 |
ACTA1 |
NM_001100.4(ACTA1):c.809-14G>C |
SNV |
Benign
|
93552 |
rs6673359 |
GRCh37: 1:229567663-229567663 GRCh38: 1:229431916-229431916 |
272 |
ACTA1 |
NM_001100.4(ACTA1):c.617-5C>T |
SNV |
Benign
|
257447 |
rs199804338 |
GRCh37: 1:229567937-229567937 GRCh38: 1:229432190-229432190 |
273 |
ACTA1 |
NM_001100.4(ACTA1):c.996C>A (p.Ile332=) |
SNV |
Benign
|
93555 |
rs74897770 |
GRCh37: 1:229567384-229567384 GRCh38: 1:229431637-229431637 |
274 |
NEB, RIF1 |
NM_001164508.2(NEB):c.21797C>T (p.Pro7266Leu) |
SNV |
Not Provided
|
387835 |
rs367626762 |
GRCh37: 2:152384038-152384038 GRCh38: 2:151527524-151527524 |