1 |
TNNT1 |
NC_000019.10:g.(?_55140863)_(55147177_?)del |
DEL |
Pathogenic
|
583940 |
|
GRCh37: 19:55652231-55658545 GRCh38: 19:55140863-55147177 |
2 |
TNNT1 |
NC_000019.10:g.(?_55140873)_(55147167_?)del |
DEL |
Pathogenic
|
660688 |
|
GRCh37: 19:55652241-55658535 GRCh38: 19:55140873-55147167 |
3 |
TNNT1 |
NM_003283.6(TNNT1):c.353del (p.Thr118fs) |
DEL |
Pathogenic
|
870626 |
rs2085439767 |
GRCh37: 19:55652285-55652285 GRCh38: 19:55140917-55140917 |
4 |
TNNT1 |
NC_000019.9:g.(?_55652231)_(55658525_?)del |
DEL |
Pathogenic
|
1455710 |
|
GRCh37: 19:55652231-55658525 GRCh38: |
5 |
TNNT1 |
NM_003283.6(TNNT1):c.415G>T (p.Glu139Ter) |
SNV |
Pathogenic
|
1456474 |
|
GRCh37: 19:55649415-55649415 GRCh38: 19:55138047-55138047 |
6 |
TNNT1 |
NM_003283.6(TNNT1):c.78del (p.Glu27fs) |
DEL |
Pathogenic
|
1452357 |
|
GRCh37: 19:55657830-55657830 GRCh38: 19:55146462-55146462 |
7 |
TNNT1 |
NM_003283.6(TNNT1):c.695dup (p.Leu233fs) |
DUP |
Pathogenic
|
949099 |
rs2085299661 |
GRCh37: 19:55645488-55645489 GRCh38: 19:55134120-55134121 |
8 |
TNNT1 |
NM_003283.6(TNNT1):c.120dup (p.Lys41fs) |
DUP |
Pathogenic
|
534399 |
rs1555859304 |
GRCh37: 19:55656919-55656920 GRCh38: 19:55145551-55145552 |
9 |
TNNT1 |
NM_003283.6(TNNT1):c.452del (p.Lys151fs) |
DEL |
Pathogenic
|
978511 |
rs2085385176 |
GRCh37: 19:55649378-55649378 GRCh38: 19:55138010-55138010 |
10 |
TNNT1 |
NC_000019.9:g.(?_55652544)_(55656943_?)del |
DEL |
Pathogenic
|
1413567 |
|
GRCh37: 19:55652544-55656943 GRCh38: |
11 |
overlap with 2 genes |
GRCh37/hg19 19q13.42(chr19:55652193-55665240) |
CN LOSS |
Pathogenic
|
625672 |
|
GRCh37: 19:55652193-55665240 GRCh38: |
12 |
overlap with 2 genes |
NC_000019.10:g.(?_55140863)_(55151937_?)del |
DEL |
Pathogenic
|
651255 |
|
GRCh37: 19:55652231-55663305 GRCh38: 19:55140863-55151937 |
13 |
TNNT1 |
NM_003283.6(TNNT1):c.538G>T (p.Glu180Ter) |
SNV |
Pathogenic
|
12440 |
rs80358249 |
GRCh37: 19:55648544-55648544 GRCh38: 19:55137176-55137176 |
14 |
TNNT1 |
NM_003283.6(TNNT1):c.387+1G>A |
SNV |
Likely Pathogenic
|
1481323 |
|
GRCh37: 19:55652250-55652250 GRCh38: 19:55140882-55140882 |
15 |
TNNT1 |
NM_003283.6(TNNT1):c.502-2A>G |
SNV |
Likely Pathogenic
|
569105 |
rs1156410888 |
GRCh37: 19:55648582-55648582 GRCh38: 19:55137214-55137214 |
16 |
TNNT1 |
NM_003283.6(TNNT1):c.1A>G (p.Met1Val) |
SNV |
Likely Pathogenic
|
870625 |
rs2085575423 |
GRCh37: 19:55658525-55658525 GRCh38: 19:55147157-55147157 |
17 |
TNNT1 |
NM_003283.6(TNNT1):c.501+1G>A |
SNV |
Likely Pathogenic
|
1066598 |
|
GRCh37: 19:55649328-55649328 GRCh38: 19:55137960-55137960 |
18 |
TNNT1 |
NM_003283.6(TNNT1):c.611+1dup |
DUP |
Likely Pathogenic
|
1325207 |
|
GRCh37: 19:55648469-55648470 GRCh38: 19:55137101-55137102 |
19 |
TNNT1 |
NM_003283.6(TNNT1):c.606_607insTAGTG (p.Leu203Ter) |
INSERT |
Likely Pathogenic
|
804429 |
rs1599875856 |
GRCh37: 19:55648475-55648476 GRCh38: 19:55137107-55137108 |
20 |
TNNT1 |
NM_003283.6(TNNT1):c.32+5G>A |
SNV |
Likely Pathogenic
|
465995 |
rs1555859876 |
GRCh37: 19:55658489-55658489 GRCh38: 19:55147121-55147121 |
21 |
TNNT1 |
NM_003283.6(TNNT1):c.792-2A>G |
SNV |
Likely Pathogenic
|
465998 |
rs1555855228 |
GRCh37: 19:55644330-55644330 GRCh38: 19:55132962-55132962 |
22 |
TNNT1 |
NM_003283.6(TNNT1):c.47-6C>G |
SNV |
Conflicting Interpretations Of Pathogenicity
|
259031 |
rs375682055 |
GRCh37: 19:55658081-55658081 GRCh38: 19:55146713-55146713 |
23 |
TNNT1 |
NM_003283.6(TNNT1):c.751-5C>T |
SNV |
Conflicting Interpretations Of Pathogenicity
|
259035 |
rs192248377 |
GRCh37: 19:55645300-55645300 GRCh38: 19:55133932-55133932 |
24 |
TNNT1 |
NM_003283.6(TNNT1):c.750+15C>T |
SNV |
Conflicting Interpretations Of Pathogenicity
|
330192 |
rs138664823 |
GRCh37: 19:55645419-55645419 GRCh38: 19:55134051-55134051 |
25 |
TNNT1 |
NM_003283.6(TNNT1):c.611+12G>T |
SNV |
Conflicting Interpretations Of Pathogenicity
|
330193 |
rs376456377 |
GRCh37: 19:55648459-55648459 GRCh38: 19:55137091-55137091 |
26 |
TNNT1 |
NM_003283.6(TNNT1):c.791+12C>T |
SNV |
Conflicting Interpretations Of Pathogenicity
|
330190 |
rs201143291 |
GRCh37: 19:55645243-55645243 GRCh38: 19:55133875-55133875 |
27 |
TNNT1 |
NM_003283.6(TNNT1):c.611+12G>A |
SNV |
Conflicting Interpretations Of Pathogenicity
|
388590 |
rs376456377 |
GRCh37: 19:55648459-55648459 GRCh38: 19:55137091-55137091 |
28 |
TNNT1 |
NM_003283.6(TNNT1):c.366C>T (p.Arg122=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
894348 |
rs375999352 |
GRCh37: 19:55652272-55652272 GRCh38: 19:55140904-55140904 |
29 |
TNNT1 |
NM_003283.6(TNNT1):c.279A>G (p.Glu93=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
31856 |
rs34313388 |
GRCh37: 19:55652584-55652584 GRCh38: 19:55141216-55141216 |
30 |
TNNT1 |
NM_003283.6(TNNT1):c.310-14T>C |
SNV |
Conflicting Interpretations Of Pathogenicity
|
383122 |
rs115663668 |
GRCh37: 19:55652342-55652342 GRCh38: 19:55140974-55140974 |
31 |
TNNT1 |
NM_003283.6(TNNT1):c.355G>A (p.Glu119Lys) |
SNV |
Uncertain Significance
|
330194 |
rs752992299 |
GRCh37: 19:55652283-55652283 GRCh38: 19:55140915-55140915 |
32 |
TNNT1 |
NM_003283.6(TNNT1):c.582C>A (p.Asp194Glu) |
SNV |
Uncertain Significance
|
1484371 |
|
GRCh37: 19:55648500-55648500 GRCh38: 19:55137132-55137132 |
33 |
TNNT1 |
NM_003283.6(TNNT1):c.31_32+1del |
MICROSAT |
Uncertain Significance
|
497007 |
rs944152647 |
GRCh37: 19:55658493-55658495 GRCh38: 19:55147125-55147127 |
34 |
overlap with 11 genes |
NC_000019.9:g.(?_55644273)_(55768277_?)dup |
DUP |
Uncertain Significance
|
648531 |
|
GRCh37: 19:55644273-55768277 GRCh38: 19:55132905-55256909 |
35 |
TNNT1 |
NM_003283.6(TNNT1):c.376G>C (p.Ala126Pro) |
SNV |
Uncertain Significance
|
1714554 |
|
GRCh37: 19:55652262-55652262 GRCh38: 19:55140894-55140894 |
36 |
TNNT1 |
NM_003283.6(TNNT1):c.746A>G (p.Tyr249Cys) |
SNV |
Uncertain Significance
|
1713944 |
|
GRCh37: 19:55645438-55645438 GRCh38: 19:55134070-55134070 |
37 |
TNNT1 |
NM_003283.6(TNNT1):c.569A>G (p.Lys190Arg) |
SNV |
Uncertain Significance
|
934525 |
rs2085359836 |
GRCh37: 19:55648513-55648513 GRCh38: 19:55137145-55137145 |
38 |
TNNT1 |
NM_003283.6(TNNT1):c.585T>G (p.Ile195Met) |
SNV |
Uncertain Significance
|
934742 |
rs2085359369 |
GRCh37: 19:55648497-55648497 GRCh38: 19:55137129-55137129 |
39 |
TNNT1 |
NM_003283.6(TNNT1):c.311A>T (p.Glu104Val) |
SNV |
Uncertain Significance
|
940131 |
rs2085441049 |
GRCh37: 19:55652327-55652327 GRCh38: 19:55140959-55140959 |
40 |
TNNT1 |
NM_003283.6(TNNT1):c.308T>C (p.Ile103Thr) |
SNV |
Uncertain Significance
|
940599 |
rs1050413432 |
GRCh37: 19:55652555-55652555 GRCh38: 19:55141187-55141187 |
41 |
TNNT1 |
NM_003283.6(TNNT1):c.284A>G (p.Glu95Gly) |
SNV |
Uncertain Significance
|
947022 |
rs1308212644 |
GRCh37: 19:55652579-55652579 GRCh38: 19:55141211-55141211 |
42 |
TNNT1 |
NM_003283.6(TNNT1):c.550C>T (p.Arg184Cys) |
SNV |
Uncertain Significance
|
949441 |
rs12976760 |
GRCh37: 19:55648532-55648532 GRCh38: 19:55137164-55137164 |
43 |
TNNT1 |
NM_003283.6(TNNT1):c.460C>G (p.Leu154Val) |
SNV |
Uncertain Significance
|
962524 |
rs2085384859 |
GRCh37: 19:55649370-55649370 GRCh38: 19:55138002-55138002 |
44 |
TNNT1 |
NM_003283.6(TNNT1):c.711G>T (p.Lys237Asn) |
SNV |
Uncertain Significance
|
962593 |
rs920784477 |
GRCh37: 19:55645473-55645473 GRCh38: 19:55134105-55134105 |
45 |
TNNT1 |
NM_003283.6(TNNT1):c.723G>A (p.Met241Ile) |
SNV |
Uncertain Significance
|
962709 |
rs2085298945 |
GRCh37: 19:55645461-55645461 GRCh38: 19:55134093-55134093 |
46 |
TNNT1 |
NM_003283.6(TNNT1):c.26A>G (p.Tyr9Cys) |
SNV |
Uncertain Significance
|
969432 |
rs1449981150 |
GRCh37: 19:55658500-55658500 GRCh38: 19:55147132-55147132 |
47 |
TNNT1 |
NM_003283.6(TNNT1):c.5C>G (p.Ser2Trp) |
SNV |
Uncertain Significance
|
1000388 |
rs1041234929 |
GRCh37: 19:55658521-55658521 GRCh38: 19:55147153-55147153 |
48 |
TNNT1 |
NM_003283.6(TNNT1):c.207G>T (p.Lys69Asn) |
SNV |
Uncertain Significance
|
1010087 |
rs2085449480 |
GRCh37: 19:55652656-55652656 GRCh38: 19:55141288-55141288 |
49 |
TNNT1 |
NM_003283.6(TNNT1):c.309+6C>T |
SNV |
Uncertain Significance
|
1015747 |
rs932070035 |
GRCh37: 19:55652548-55652548 GRCh38: 19:55141180-55141180 |
50 |
TNNT1 |
NM_003283.6(TNNT1):c.136G>A (p.Val46Met) |
SNV |
Uncertain Significance
|
1022550 |
rs778199645 |
GRCh37: 19:55653281-55653281 GRCh38: 19:55141913-55141913 |