1 |
TNNC1
|
NM_003280.3(TNNC1): c.251G> A (p.Cys84Tyr)
|
single nucleotide variant |
Pathogenic |
rs267607126
|
3:52485826-52485826 |
3:52451810-52451810 |
2 |
TNNC1
|
NM_003280.3(TNNC1): c.91G> T (p.Ala31Ser)
|
single nucleotide variant |
Pathogenic |
rs397514616
|
3:52486233-52486233 |
3:52452217-52452217 |
3 |
TNNC1
|
NM_003280.3(TNNC1): c.210C> T (p.Gly70=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs141505676
|
3:52485867-52485867 |
3:52451851-52451851 |
4 |
TNNC1
|
NM_003280.3(TNNC1): c.23C> T (p.Ala8Val)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs267607125
|
3:52488009-52488009 |
3:52453993-52453993 |
5 |
TNNC1
|
NM_003280.3(TNNC1): c.430A> G (p.Asn144Asp)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs730881061
|
3:52485431-52485431 |
3:52451415-52451415 |
6 |
TNNC1
|
NM_003280.3(TNNC1): c.262G> A (p.Asp88Asn)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs730881058
|
3:52485815-52485815 |
3:52451799-52451799 |
7 |
TNNC1
|
NM_003280.3(TNNC1): c.108C> A (p.Ile36=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs202000367
|
3:52486216-52486216 |
3:52452200-52452200 |
8 |
TNNC1
|
NM_003280.3(TNNC1): c.456G> A (p.Glu152=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs568828576
|
3:52485321-52485321 |
3:52451305-52451305 |
9 |
TNNC1
|
NM_003280.3(TNNC1): c.55+9C> A
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs750647348
|
3:52486490-52486490 |
3:52452474-52452474 |
10 |
TNNC1
|
NM_003280.3(TNNC1): c.355A> G (p.Ile119Val)
|
single nucleotide variant |
Uncertain significance |
|
3:52485506-52485506 |
3:52451490-52451490 |
11 |
TNNC1
|
NM_003280.3(TNNC1): c.337G> A (p.Asp113Asn)
|
single nucleotide variant |
Uncertain significance |
|
3:52485524-52485524 |
3:52451508-52451508 |
12 |
TNNC1
|
NM_003280.3(TNNC1): c.328G> T (p.Gly110Cys)
|
single nucleotide variant |
Uncertain significance |
|
3:52485533-52485533 |
3:52451517-52451517 |
13 |
TNNC1
|
NM_003280.3(TNNC1): c.318-6C> G
|
single nucleotide variant |
Uncertain significance |
|
3:52485549-52485549 |
3:52451533-52451533 |
14 |
TNNC1
|
NM_003280.3(TNNC1): c.203-9C> G
|
single nucleotide variant |
Uncertain significance |
|
3:52485883-52485883 |
3:52451867-52451867 |
15 |
TNNC1
|
NM_003280.3(TNNC1): c.68C> A (p.Ala23Asp)
|
single nucleotide variant |
Uncertain significance |
|
3:52486256-52486256 |
3:52452240-52452240 |
16 |
TNNC1
|
NM_003280.3(TNNC1): c.391_393GAC[1] (p.Asp132del)
|
short repeat |
Uncertain significance |
|
3:52485465-52485467 |
3:52451449-52451451 |
17 |
TNNC1
|
NM_003280.3(TNNC1): c.419G> A (p.Gly140Glu)
|
single nucleotide variant |
Uncertain significance |
|
3:52485442-52485442 |
3:52451426-52451426 |
18 |
TNNC1
|
NM_003280.3(TNNC1): c.397A> G (p.Ile133Val)
|
single nucleotide variant |
Uncertain significance |
|
3:52485464-52485464 |
3:52451448-52451448 |
19 |
TNNC1
|
NM_003280.3(TNNC1): c.271G> A (p.Gly91Arg)
|
single nucleotide variant |
Uncertain significance |
|
3:52485806-52485806 |
3:52451790-52451790 |
20 |
TNNC1
|
NM_003280.3(TNNC1): c.55+5G> A
|
single nucleotide variant |
Uncertain significance |
|
3:52486494-52486494 |
3:52452478-52452478 |
21 |
TNNC1
|
NM_003280.3(TNNC1): c.189G> T (p.Glu63Asp)
|
single nucleotide variant |
Uncertain significance |
rs864622721
|
3:52486135-52486135 |
3:52452119-52452119 |
22 |
TNNC1
|
NM_003280.3(TNNC1): c.469A> C (p.Met157Leu)
|
single nucleotide variant |
Uncertain significance |
rs730880230
|
3:52485308-52485308 |
3:52451292-52451292 |
23 |
TNNC1
|
NM_003280.3(TNNC1): c.155C> G (p.Pro52Arg)
|
single nucleotide variant |
Uncertain significance |
rs730881065
|
3:52486169-52486169 |
3:52452153-52452153 |
24 |
TNNC1
|
NM_003280.3(TNNC1): c.26T> G (p.Val9Gly)
|
single nucleotide variant |
Uncertain significance |
rs730881056
|
3:52486528-52486528 |
3:52452512-52452512 |
25 |
TNNC1
|
NM_003280.3(TNNC1): c.86T> A (p.Leu29Gln)
|
single nucleotide variant |
Uncertain significance |
rs267607123
|
3:52486238-52486238 |
3:52452222-52452222 |
26 |
TNNC1
|
NM_003280.3(TNNC1): c.435C> A (p.Asp145Glu)
|
single nucleotide variant |
Uncertain significance |
rs267607124
|
3:52485426-52485426 |
3:52451410-52451410 |
27 |
TNNC1
|
NM_003280.3(TNNC1): c.402G> T (p.Glu134Asp)
|
single nucleotide variant |
Uncertain significance |
rs397516847
|
3:52485459-52485459 |
3:52451443-52451443 |
28 |
TNNC1
|
NM_003280.3(TNNC1): c.442A> G (p.Ile148Val)
|
single nucleotide variant |
Uncertain significance |
rs397516848
|
3:52485419-52485419 |
3:52451403-52451403 |
29 |
TNNC1
|
NM_003280.3(TNNC1): c.433G> A (p.Asp145Asn)
|
single nucleotide variant |
Uncertain significance |
rs142759728
|
3:52485428-52485428 |
3:52451412-52451412 |
30 |
TNNC1
|
NM_003280.3(TNNC1): c.207C> G (p.Ser69Arg)
|
single nucleotide variant |
Uncertain significance |
rs202173903
|
3:52485870-52485870 |
3:52451854-52451854 |
31 |
TNNC1
|
NM_003280.3(TNNC1): c.175dup (p.Glu59fs)
|
duplication |
Uncertain significance |
rs1060502609
|
3:52486149-52486149 |
3:52452133-52452133 |
32 |
TNNC1
|
NM_003280.3(TNNC1): c.452A> T (p.Asp151Val)
|
single nucleotide variant |
Uncertain significance |
rs1060502611
|
3:52485409-52485409 |
3:52451393-52451393 |
33 |
TNNC1
|
NM_003280.3(TNNC1): c.348G> T (p.Glu116Asp)
|
single nucleotide variant |
Uncertain significance |
rs1060502610
|
3:52485513-52485513 |
3:52451497-52451497 |
34 |
TNNC1
|
NM_003280.3(TNNC1): c.473A> C (p.Lys158Thr)
|
single nucleotide variant |
Uncertain significance |
rs1553651622
|
3:52485304-52485304 |
3:52451288-52451288 |
35 |
TNNC1
|
NM_003280.3(TNNC1): c.400G> A (p.Glu134Lys)
|
single nucleotide variant |
Uncertain significance |
rs1553651640
|
3:52485461-52485461 |
3:52451445-52451445 |
36 |
TNNC1
|
NM_003280.3(TNNC1): c.393C> A (p.Asp131Glu)
|
single nucleotide variant |
Uncertain significance |
rs147821122
|
3:52485468-52485468 |
3:52451452-52451452 |
37 |
TNNC1
|
NM_003280.3(TNNC1): c.186T> A (p.Asp62Glu)
|
single nucleotide variant |
Uncertain significance |
rs1553651734
|
3:52486138-52486138 |
3:52452122-52452122 |
38 |
TNNC1
|
NM_003280.3(TNNC1): c.140T> G (p.Met47Arg)
|
single nucleotide variant |
Uncertain significance |
rs1553651744
|
3:52486184-52486184 |
3:52452168-52452168 |
39 |
TNNC1
|
NM_003280.3(TNNC1): c.427_429AAC[1] (p.Asn144del)
|
short repeat |
Uncertain significance |
rs1553651630
|
3:52485429-52485431 |
3:52451413-52451415 |
40 |
TNNC1
|
NM_003280.3(TNNC1): c.383T> C (p.Ile128Thr)
|
single nucleotide variant |
Uncertain significance |
rs1553651649
|
3:52485478-52485478 |
3:52451462-52451462 |
41 |
TNNC1
|
NM_003280.3(TNNC1): c.157A> G (p.Thr53Ala)
|
single nucleotide variant |
Uncertain significance |
rs1553651742
|
3:52486167-52486167 |
3:52452151-52452151 |
42 |
TNNC1
|
NM_003280.3(TNNC1): c.94G> A (p.Glu32Lys)
|
single nucleotide variant |
Uncertain significance |
rs1553651750
|
3:52486230-52486230 |
3:52452214-52452214 |
43 |
TNNC1
|
NM_003280.3(TNNC1): c.195C> T (p.Asp65=)
|
single nucleotide variant |
Likely benign |
rs370426309
|
3:52486129-52486129 |
3:52452113-52452113 |
44 |
TNNC1
|
NM_003280.3(TNNC1): c.387G> A (p.Thr129=)
|
single nucleotide variant |
Likely benign |
rs397516845
|
3:52485474-52485474 |
3:52451458-52451458 |
45 |
TNNC1
|
NM_003280.3(TNNC1): c.213G> A (p.Thr71=)
|
single nucleotide variant |
Likely benign |
rs140287760
|
3:52485864-52485864 |
3:52451848-52451848 |
46 |
TNNC1
|
NM_003280.3(TNNC1): c.24+9C> T
|
single nucleotide variant |
Likely benign |
rs780786150
|
3:52487999-52487999 |
3:52453983-52453983 |
47 |
TNNC1
|
NM_003280.3(TNNC1): c.90C> T (p.Gly30=)
|
single nucleotide variant |
Likely benign |
rs149647795
|
3:52486234-52486234 |
3:52452218-52452218 |
48 |
TNNC1
|
NM_003280.3(TNNC1): c.454+7G> A
|
single nucleotide variant |
Likely benign |
rs747842576
|
3:52485400-52485400 |
3:52451384-52451384 |
49 |
TNNC1
|
NM_003280.3(TNNC1): c.336C> T (p.Ile112=)
|
single nucleotide variant |
Likely benign |
rs763584637
|
3:52485525-52485525 |
3:52451509-52451509 |
50 |
TNNC1
|
NM_003280.3(TNNC1): c.72C> T (p.Phe24=)
|
single nucleotide variant |
Likely benign |
rs751682878
|
3:52486252-52486252 |
3:52452236-52452236 |