1 |
ACTN1 |
NM_001130004.2(ACTN1):c.94C>A (p.Gln32Lys) |
SNV |
Pathogenic
|
42029 |
rs387907346 |
GRCh37: 14:69445680-69445680 GRCh38: 14:68978963-68978963 |
2 |
ACTN1 |
NM_001130004.2(ACTN1):c.2255G>A (p.Arg752Gln) |
SNV |
Pathogenic
|
42030 |
rs387907347 |
GRCh37: 14:69346704-69346704 GRCh38: 14:68879987-68879987 |
3 |
ACTN1 |
NM_001130004.2(ACTN1):c.2212C>T (p.Arg738Trp) |
SNV |
Pathogenic
|
42032 |
rs387907349 |
GRCh37: 14:69346747-69346747 GRCh38: 14:68880030-68880030 |
4 |
ACTN1 |
NM_001130004.2(ACTN1):c.673G>A (p.Glu225Lys) |
SNV |
Pathogenic
|
42033 |
rs387907350 |
GRCh37: 14:69371375-69371375 GRCh38: 14:68904658-68904658 |
5 |
ACTN1 |
NM_001130004.2(ACTN1):c.384G>T (p.Trp128Cys) |
SNV |
Pathogenic
|
1684463 |
|
GRCh37: 14:69378916-69378916 GRCh38: 14:68912199-68912199 |
6 |
ACTN1 |
NM_001130004.2(ACTN1):c.1181A>G (p.His394Arg) |
SNV |
Pathogenic
|
627217 |
rs1594768482 |
GRCh37: 14:69356909-69356909 GRCh38: 14:68890192-68890192 |
7 |
ACTN1 |
NM_001130004.2(ACTN1):c.2141G>A (p.Arg714His) |
SNV |
Pathogenic
|
1306091 |
|
GRCh37: 14:69346818-69346818 GRCh38: 14:68880101-68880101 |
8 |
ACTN1 |
NM_001130004.2(ACTN1):c.313G>A (p.Val105Ile) |
SNV |
Pathogenic
|
42028 |
rs387907345 |
GRCh37: 14:69387750-69387750 GRCh38: 14:68921033-68921033 |
9 |
ACTN1 |
NM_001130004.2(ACTN1):c.137G>A (p.Arg46Gln) |
SNV |
Pathogenic/Likely Pathogenic
|
42031 |
rs387907348 |
GRCh37: 14:69392358-69392358 GRCh38: 14:68925641-68925641 |
10 |
ACTN1 |
NM_001130004.2(ACTN1):c.1348C>T (p.Arg450Cys) |
SNV |
Pathogenic/Likely Pathogenic
|
666546 |
rs1594760036 |
GRCh37: 14:69352179-69352179 GRCh38: 14:68885462-68885462 |
11 |
ACTN1 |
NM_001130004.2(ACTN1):c.2551G>A (p.Val851Ile) |
SNV |
Likely Pathogenic
|
1704200 |
|
GRCh37: 14:69343834-69343834 GRCh38: 14:68877117-68877117 |
12 |
ACTN1 |
NM_001130004.2(ACTN1):c.1959C>G (p.Ile653Met) |
SNV |
Likely Pathogenic
|
627175 |
rs372031019 |
GRCh37: 14:69347701-69347701 GRCh38: 14:68880984-68880984 |
13 |
ACTN1 |
NM_001130004.2(ACTN1):c.127T>A (p.Ser43Thr) |
SNV |
Likely Pathogenic
|
1684466 |
|
GRCh37: 14:69392368-69392368 GRCh38: 14:68925651-68925651 |
14 |
ACTN1 |
NM_001130004.2(ACTN1):c.136C>T (p.Arg46Trp) |
SNV |
Likely Pathogenic
|
626995 |
rs747559032 |
GRCh37: 14:69392359-69392359 GRCh38: 14:68925642-68925642 |
15 |
ACTN1 |
NM_001130004.2(ACTN1):c.2201A>G (p.Gln734Arg) |
SNV |
Likely Pathogenic
|
517137 |
rs1555343284 |
GRCh37: 14:69346758-69346758 GRCh38: 14:68880041-68880041 |
16 |
ACTN1 |
NM_001130004.2(ACTN1):c.770C>G (p.Thr257Arg) |
SNV |
Likely Pathogenic
|
627135 |
rs1594773549 |
GRCh37: 14:69360457-69360457 GRCh38: 14:68893740-68893740 |
17 |
ACTN1 |
NM_001130004.2(ACTN1):c.970A>G (p.Lys324Glu) |
SNV |
Likely Pathogenic
|
666541 |
rs1594771270 |
GRCh37: 14:69358886-69358886 GRCh38: 14:68892169-68892169 |
18 |
ACTN1 |
NM_001130004.2(ACTN1):c.982G>A (p.Val328Met) |
SNV |
Likely Pathogenic
|
666542 |
rs1594771236 |
GRCh37: 14:69358874-69358874 GRCh38: 14:68892157-68892157 |
19 |
ACTN1 |
NM_001130004.2(ACTN1):c.986A>G (p.Gln329Arg) |
SNV |
Likely Pathogenic
|
666543 |
rs1594771224 |
GRCh37: 14:69358870-69358870 GRCh38: 14:68892153-68892153 |
20 |
ACTN1 |
NM_001130004.2(ACTN1):c.1193A>C (p.Lys398Thr) |
SNV |
Likely Pathogenic
|
666544 |
rs1594768463 |
GRCh37: 14:69356897-69356897 GRCh38: 14:68890180-68890180 |
21 |
ACTN1 |
NM_001130004.2(ACTN1):c.1295C>T (p.Ala432Val) |
SNV |
Likely Pathogenic
|
666545 |
rs1594760140 |
GRCh37: 14:69352232-69352232 GRCh38: 14:68885515-68885515 |
22 |
ACTN1 |
NM_001130004.2(ACTN1):c.1349G>A (p.Arg450His) |
SNV |
Likely Pathogenic
|
666547 |
rs751173836 |
GRCh37: 14:69352178-69352178 GRCh38: 14:68885461-68885461 |
23 |
ACTN1 |
NM_001130004.2(ACTN1):c.1864C>T (p.His622Tyr) |
SNV |
Likely Pathogenic
|
666548 |
rs1594755688 |
GRCh37: 14:69349264-69349264 GRCh38: 14:68882547-68882547 |
24 |
ACTN1 |
NM_001130004.2(ACTN1):c.2157G>C (p.Gln719His) |
SNV |
Likely Pathogenic
|
666549 |
rs1594751825 |
GRCh37: 14:69346802-69346802 GRCh38: 14:68880085-68880085 |
25 |
ACTN1 |
NM_001130004.2(ACTN1):c.2243T>A (p.Met748Lys) |
SNV |
Likely Pathogenic
|
666550 |
rs1594751659 |
GRCh37: 14:69346716-69346716 GRCh38: 14:68879999-68879999 |
26 |
ACTN1 |
NM_001130004.2(ACTN1):c.2728G>C (p.Gly910Arg) |
SNV |
Likely Pathogenic
|
988884 |
rs192640536 |
GRCh37: 14:69341593-69341593 GRCh38: 14:68874876-68874876 |
27 |
ACTN1 |
NM_001130004.2(ACTN1):c.342A>C (p.Glu114Asp) |
SNV |
Likely Pathogenic
|
1693577 |
|
GRCh37: 14:69378958-69378958 GRCh38: 14:68912241-68912241 |
28 |
ACTN1 |
NM_001130004.2(ACTN1):c.2213G>A (p.Arg738Gln) |
SNV |
Likely Pathogenic
|
1684471 |
|
GRCh37: 14:69346746-69346746 GRCh38: 14:68880029-68880029 |
29 |
ACTN1 |
NM_001130004.2(ACTN1):c.2658G>A (p.Met886Ile) |
SNV |
Uncertain Significance
|
1677254 |
|
GRCh37: 14:69341663-69341663 GRCh38: 14:68874946-68874946 |
30 |
ACTN1 |
NM_001130004.2(ACTN1):c.1294G>A (p.Ala432Thr) |
SNV |
Uncertain Significance
|
627221 |
rs1454176065 |
GRCh37: 14:69352233-69352233 GRCh38: 14:68885516-68885516 |
31 |
ACTN1 |
NM_001130004.2(ACTN1):c.2209A>G (p.Thr737Ala) |
SNV |
Uncertain Significance
|
627277 |
rs1594751712 |
GRCh37: 14:69346750-69346750 GRCh38: 14:68880033-68880033 |
32 |
ACTN1 |
NM_001130004.2(ACTN1):c.676+9C>T |
SNV |
Uncertain Significance
|
1684409 |
|
GRCh37: 14:69371363-69371363 GRCh38: 14:68904646-68904646 |
33 |
ACTN1 |
NM_001130004.2(ACTN1):c.2302C>A (p.Pro768Thr) |
SNV |
Uncertain Significance
|
1684460 |
|
GRCh37: 14:69345765-69345765 GRCh38: 14:68879048-68879048 |
34 |
ACTN1 |
NM_001130004.2(ACTN1):c.1040T>C (p.Leu347Pro) |
SNV |
Uncertain Significance
|
1684461 |
|
GRCh37: 14:69358816-69358816 GRCh38: 14:68892099-68892099 |
35 |
ACTN1 |
NM_001130004.2(ACTN1):c.1018A>G (p.Thr340Ala) |
SNV |
Uncertain Significance
|
1684462 |
|
GRCh37: 14:69358838-69358838 GRCh38: 14:68892121-68892121 |
36 |
ACTN1 |
NM_001130004.2(ACTN1):c.919C>T (p.His307Tyr) |
SNV |
Uncertain Significance
|
1684469 |
|
GRCh37: 14:69358937-69358937 GRCh38: 14:68892220-68892220 |
37 |
ACTN1 |
NM_001130004.2(ACTN1):c.715A>G (p.Met239Val) |
SNV |
Uncertain Significance
|
1684470 |
|
GRCh37: 14:69369241-69369241 GRCh38: 14:68902524-68902524 |
38 |
ACTN1 |
NM_001130004.2(ACTN1):c.2255G>C (p.Arg752Pro) |
SNV |
Uncertain Significance
|
1703857 |
|
GRCh37: 14:69346704-69346704 GRCh38: 14:68879987-68879987 |
39 |
ACTN1 |
NM_001130004.2(ACTN1):c.2126C>T (p.Thr709Ile) |
SNV |
Likely Benign
|
1684464 |
|
GRCh37: 14:69347534-69347534 GRCh38: 14:68880817-68880817 |
40 |
ACTN1 |
NM_001130004.2(ACTN1):c.2108A>G (p.Asn703Ser) |
SNV |
Likely Benign
|
1684465 |
|
GRCh37: 14:69347552-69347552 GRCh38: 14:68880835-68880835 |
41 |
ACTN1 |
NM_001130004.2(ACTN1):c.580G>A (p.Gly194Arg) |
SNV |
Likely Benign
|
1336381 |
|
GRCh37: 14:69376049-69376049 GRCh38: 14:68909332-68909332 |