1 |
TNNC1 |
NM_003280.3(TNNC1):c.251G>A (p.Cys84Tyr) |
SNV |
Pathogenic |
12444 |
rs267607126 |
3:52485826-52485826 |
3:52451810-52451810 |
2 |
TNNC1 |
NM_003280.3(TNNC1):c.91G>T (p.Ala31Ser) |
SNV |
Pathogenic |
39832 |
rs397514616 |
3:52486233-52486233 |
3:52452217-52452217 |
3 |
TNNC1 |
NM_003280.3(TNNC1):c.86T>A (p.Leu29Gln) |
SNV |
Pathogenic |
12442 |
rs267607123 |
3:52486238-52486238 |
3:52452222-52452222 |
4 |
TNNC1 |
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) |
SNV |
Pathogenic |
12443 |
rs267607125 |
3:52488009-52488009 |
3:52453993-52453993 |
5 |
TNNC1 |
NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu) |
SNV |
Pathogenic |
12445 |
rs267607124 |
3:52485426-52485426 |
3:52451410-52451410 |
6 |
TNNC1 |
NM_003280.3(TNNC1):c.430A>G (p.Asn144Asp) |
SNV |
Likely pathogenic |
181567 |
rs730881061 |
3:52485431-52485431 |
3:52451415-52451415 |
7 |
TNNC1 |
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) |
SNV |
Likely pathogenic |
12443 |
rs267607125 |
3:52488009-52488009 |
3:52453993-52453993 |
8 |
TNNC1 |
NM_003280.3(TNNC1):c.184G>A (p.Asp62Asn) |
SNV |
Uncertain significance |
265805 |
rs1040079072 |
3:52486140-52486140 |
3:52452124-52452124 |
9 |
TNNC1 |
NM_003280.3(TNNC1):c.454+6C>T |
SNV |
Uncertain significance |
508670 |
rs750021293 |
3:52485401-52485401 |
3:52451385-52451385 |
10 |
TNNC1 |
NM_003280.3(TNNC1):c.426G>C (p.Lys142Asn) |
SNV |
Uncertain significance |
847856 |
|
3:52485435-52485435 |
3:52451419-52451419 |
11 |
TNNC1 |
NM_003280.3(TNNC1):c.155C>T (p.Pro52Leu) |
SNV |
Uncertain significance |
848729 |
|
3:52486169-52486169 |
3:52452153-52452153 |
12 |
TNNC1 |
NM_003280.3(TNNC1):c.356T>C (p.Ile119Thr) |
SNV |
Uncertain significance |
860219 |
|
3:52485505-52485505 |
3:52451489-52451489 |
13 |
TNNC1 |
NM_003280.3(TNNC1):c.444C>T (p.Ile148=) |
SNV |
Uncertain significance |
700167 |
rs149428762 |
3:52485417-52485417 |
3:52451401-52451401 |
14 |
TNNC1 |
NM_003280.3(TNNC1):c.213G>C (p.Thr71=) |
SNV |
Uncertain significance |
702219 |
rs140287760 |
3:52485864-52485864 |
3:52451848-52451848 |
15 |
TNNC1 |
NM_003280.3(TNNC1):c.189G>C (p.Glu63Asp) |
SNV |
Uncertain significance |
939652 |
|
3:52486135-52486135 |
3:52452119-52452119 |
16 |
TNNC1 |
NM_003280.3(TNNC1):c.304C>A (p.Arg102Ser) |
SNV |
Uncertain significance |
946356 |
|
3:52485773-52485773 |
3:52451757-52451757 |
17 |
TNNC1 |
NM_003280.3(TNNC1):c.455-6C>G |
SNV |
Uncertain significance |
948109 |
|
3:52485328-52485328 |
3:52451312-52451312 |
18 |
TNNC1 |
NM_003280.3(TNNC1):c.440G>A (p.Arg147His) |
SNV |
Uncertain significance |
949818 |
|
3:52485421-52485421 |
3:52451405-52451405 |
19 |
TNNC1 |
NM_003280.3(TNNC1):c.418G>A (p.Gly140Arg) |
SNV |
Uncertain significance |
960916 |
|
3:52485443-52485443 |
3:52451427-52451427 |
20 |
TNNC1 |
NM_003280.3(TNNC1):c.305G>T (p.Arg102Leu) |
SNV |
Uncertain significance |
496210 |
rs143020831 |
3:52485772-52485772 |
3:52451756-52451756 |
21 |
TNNC1 |
NM_003280.3(TNNC1):c.202+6C>T |
SNV |
Uncertain significance |
968552 |
|
3:52486116-52486116 |
3:52452100-52452100 |
22 |
TNNC1 |
NM_003280.3(TNNC1):c.73G>A (p.Asp25Asn) |
SNV |
Uncertain significance |
181571 |
rs730881064 |
3:52486251-52486251 |
3:52452235-52452235 |
23 |
TNNC1 |
NM_003280.3(TNNC1):c.304C>T (p.Arg102Cys) |
SNV |
Uncertain significance |
181565 |
rs370103102 |
3:52485773-52485773 |
3:52451757-52451757 |
24 |
TNNC1 |
NM_003280.3(TNNC1):c.68C>A (p.Ala23Asp) |
SNV |
Uncertain significance |
565519 |
rs1559616263 |
3:52486256-52486256 |
3:52452240-52452240 |
25 |
TNNC1 |
NM_003280.3(TNNC1):c.140T>G (p.Met47Arg) |
SNV |
Uncertain significance |
488170 |
rs1553651744 |
3:52486184-52486184 |
3:52452168-52452168 |
26 |
TNNC1 |
NM_003280.3(TNNC1):c.337G>A (p.Asp113Asn) |
SNV |
Uncertain significance |
567523 |
rs369639550 |
3:52485524-52485524 |
3:52451508-52451508 |
27 |
TNNC1 |
NM_003280.3(TNNC1):c.391_393GAC[1] (p.Asp132del) |
Microsatellite |
Uncertain significance |
569293 |
rs1559615735 |
3:52485465-52485467 |
3:52451449-52451451 |
28 |
TNNC1 |
NM_003280.3(TNNC1):c.318-6C>G |
SNV |
Uncertain significance |
572564 |
rs1559615815 |
3:52485549-52485549 |
3:52451533-52451533 |
29 |
TNNC1 |
NM_003280.3(TNNC1):c.328G>T (p.Gly110Cys) |
SNV |
Uncertain significance |
579420 |
rs1559615797 |
3:52485533-52485533 |
3:52451517-52451517 |
30 |
TNNC1 |
NM_003280.3(TNNC1):c.86T>A (p.Leu29Gln) |
SNV |
Uncertain significance |
12442 |
rs267607123 |
3:52486238-52486238 |
3:52452222-52452222 |
31 |
TNNC1 |
NM_003280.3(TNNC1):c.203-9C>G |
SNV |
Uncertain significance |
580342 |
rs754800561 |
3:52485883-52485883 |
3:52451867-52451867 |
32 |
TNNC1 |
NM_003280.3(TNNC1):c.402G>T (p.Glu134Asp) |
SNV |
Uncertain significance |
44681 |
rs397516847 |
3:52485459-52485459 |
3:52451443-52451443 |
33 |
TNNC1 |
NM_003280.3(TNNC1):c.355A>G (p.Ile119Val) |
SNV |
Uncertain significance |
580935 |
rs1559615765 |
3:52485506-52485506 |
3:52451490-52451490 |
34 |
TNNC1 |
NM_003280.3(TNNC1):c.397A>G (p.Ile133Val) |
SNV |
Uncertain significance |
640123 |
rs922957538 |
3:52485464-52485464 |
3:52451448-52451448 |
35 |
TNNC1 |
NM_003280.3(TNNC1):c.419G>A (p.Gly140Glu) |
SNV |
Uncertain significance |
643139 |
rs764835690 |
3:52485442-52485442 |
3:52451426-52451426 |
36 |
TNNC1 |
NM_003280.3(TNNC1):c.469A>C (p.Met157Leu) |
SNV |
Uncertain significance |
181569 |
rs730880230 |
3:52485308-52485308 |
3:52451292-52451292 |
37 |
TNNC1 |
NM_003280.3(TNNC1):c.271G>A (p.Gly91Arg) |
SNV |
Uncertain significance |
647657 |
rs1578264052 |
3:52485806-52485806 |
3:52451790-52451790 |
38 |
TNNC1 |
NM_003280.3(TNNC1):c.55+5G>A |
SNV |
Uncertain significance |
649043 |
rs1201786846 |
3:52486494-52486494 |
3:52452478-52452478 |
39 |
TNNC1 |
NM_003280.3(TNNC1):c.189G>T (p.Glu63Asp) |
SNV |
Uncertain significance |
221030 |
rs864622721 |
3:52486135-52486135 |
3:52452119-52452119 |
40 |
TNNC1 |
NM_003280.3(TNNC1):c.210C>T (p.Gly70=) |
SNV |
Uncertain significance |
44677 |
rs141505676 |
3:52485867-52485867 |
3:52451851-52451851 |
41 |
TNNC1 |
NM_003280.3(TNNC1):c.*127C>T |
SNV |
Uncertain significance |
346128 |
rs41292360 |
3:52485164-52485164 |
3:52451148-52451148 |
42 |
TNNC1 |
NM_003280.3(TNNC1):c.4G>A (p.Asp2Asn) |
SNV |
Uncertain significance |
346133 |
rs886058707 |
3:52488028-52488028 |
3:52454012-52454012 |
43 |
TNNC1 |
NM_003280.3(TNNC1):c.81C>T (p.Phe27=) |
SNV |
Uncertain significance |
346131 |
rs756483143 |
3:52486243-52486243 |
3:52452227-52452227 |
44 |
TNNC1 |
NM_003280.3(TNNC1):c.55+9C>A |
SNV |
Uncertain significance |
346132 |
rs750647348 |
3:52486490-52486490 |
3:52452474-52452474 |
45 |
TNNC1 |
NM_003280.3(TNNC1):c.*75G>A |
SNV |
Uncertain significance |
346130 |
rs886058706 |
3:52485216-52485216 |
3:52451200-52451200 |
46 |
TNNC1 |
NM_003280.3(TNNC1):c.387G>C (p.Thr129=) |
SNV |
Uncertain significance |
44679 |
rs397516845 |
3:52485474-52485474 |
3:52451458-52451458 |
47 |
TNNC1 |
NM_003280.3(TNNC1):c.442A>G (p.Ile148Val) |
SNV |
Uncertain significance |
44682 |
rs397516848 |
3:52485419-52485419 |
3:52451403-52451403 |
48 |
TNNC1 |
NM_003280.3(TNNC1):c.175dup (p.Glu59fs) |
Duplication |
Uncertain significance |
409872 |
rs1060502609 |
3:52486148-52486149 |
3:52452132-52452133 |
49 |
TNNC1 |
NM_003280.3(TNNC1):c.433G>A (p.Asp145Asn) |
SNV |
Uncertain significance |
409874 |
rs142759728 |
3:52485428-52485428 |
3:52451412-52451412 |
50 |
TNNC1 |
NM_003280.3(TNNC1):c.452A>T (p.Asp151Val) |
SNV |
Uncertain significance |
409875 |
rs1060502611 |
3:52485409-52485409 |
3:52451393-52451393 |