1 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys) |
INDEL |
Pathogenic
|
12652 |
rs281864927 |
GRCh37: 2:179391925-179391935 GRCh38: 2:178527198-178527208 |
2 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro) |
SNV |
Pathogenic
|
12653 |
rs267607156 |
GRCh37: 2:179391848-179391848 GRCh38: 2:178527121-178527121 |
3 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn) |
SNV |
Pathogenic
|
12654 |
rs281864928 |
GRCh37: 2:179391875-179391875 GRCh38: 2:178527148-178527148 |
4 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.107890C>T (p.Gln35964Ter) |
SNV |
Pathogenic
|
38440 |
rs281864929 |
GRCh37: 2:179391825-179391825 GRCh38: 2:178527098-178527098 |
5 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.107892_107897del (p.Gln35964_Gly35966delinsHis) |
DEL |
Pathogenic
|
38441 |
rs281864933 |
GRCh37: 2:179391818-179391823 GRCh38: 2:178527091-178527096 |
6 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.107647del (p.Ser35883fs) |
DEL |
Pathogenic
|
38442 |
rs281864932 |
GRCh37: 2:179392206-179392206 GRCh38: 2:178527479-178527479 |
7 |
TTN |
NM_001267550.2(TTN):c.15796C>T (p.Arg5266Ter) |
SNV |
Pathogenic
|
130662 |
rs372277017 |
GRCh37: 2:179598224-179598224 GRCh38: 2:178733497-178733497 |
8 |
TTN |
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) |
SNV |
Pathogenic
|
282527 |
rs772235481 |
GRCh37: 2:179597615-179597615 GRCh38: 2:178732888-178732888 |
9 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter) |
SNV |
Pathogenic
|
202377 |
rs751502842 |
GRCh37: 2:179477169-179477169 GRCh38: 2:178612442-178612442 |
10 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter) |
SNV |
Pathogenic
|
488810 |
rs869178171 |
GRCh37: 2:179428202-179428202 GRCh38: 2:178563475-178563475 |
11 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.65863+1G>A |
SNV |
Pathogenic
|
1686283 |
|
GRCh37: 2:179447666-179447666 GRCh38: 2:178582939-178582939 |
12 |
TTN |
NM_001267550.2(TTN):c.35154dup (p.Val11719fs) |
DUP |
Pathogenic
|
843125 |
rs2067087661 |
GRCh37: 2:179536770-179536771 GRCh38: 2:178672043-178672044 |
13 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) |
DEL |
Pathogenic
|
38439 |
rs281864930 |
GRCh37: 2:179391826-179391826 GRCh38: 2:178527099-178527099 |
14 |
TTN |
NM_001267550.2(TTN):c.5047C>T (p.Arg1683Ter) |
SNV |
Pathogenic
|
130673 |
rs587780490 |
GRCh37: 2:179641544-179641544 GRCh38: 2:178776817-178776817 |
15 |
TTN |
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) |
INSERT |
Pathogenic
|
130679 |
rs587780494 |
GRCh37: 2:179639882-179639883 GRCh38: 2:178775155-178775156 |
16 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.47961del (p.Gly15988fs) |
DEL |
Pathogenic
|
523430 |
rs1553707780 |
GRCh37: 2:179481655-179481655 GRCh38: 2:178616928-178616928 |
17 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) |
SNV |
Pathogenic
|
180573 |
rs574660186 |
GRCh37: 2:179444429-179444429 GRCh38: 2:178579702-178579702 |
18 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.75138_75141del (p.Lys25046fs) |
MICROSAT |
Pathogenic
|
202467 |
rs794729340 |
GRCh37: 2:179435718-179435721 GRCh38: 2:178570991-178570994 |
19 |
TTN |
NM_001267550.2(TTN):c.14093-1G>A |
SNV |
Pathogenic
|
223347 |
rs869312099 |
GRCh37: 2:179603088-179603088 GRCh38: 2:178738361-178738361 |
20 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) |
DEL |
Pathogenic
|
374145 |
rs760768093 |
GRCh37: 2:179397982-179397982 GRCh38: 2:178533255-178533255 |
21 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.58368dup (p.Tyr19457fs) |
DUP |
Likely Pathogenic
|
931526 |
rs2050860445 |
GRCh37: 2:179458751-179458752 GRCh38: 2:178594024-178594025 |
22 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.79599_79621del (p.Glu26533fs) |
DEL |
Likely Pathogenic
|
932043 |
rs1312613088 |
GRCh37: 2:179431238-179431260 GRCh38: 2:178566511-178566533 |
23 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.104092_104103delinsGAAGCTTT (p.Arg34698fs) |
INDEL |
Likely Pathogenic
|
932091 |
rs1689596670 |
GRCh37: 2:179397239-179397250 GRCh38: 2:178532512-178532523 |
24 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.89221dup (p.Ile29741fs) |
DUP |
Likely Pathogenic
|
417932 |
rs1553543413 |
GRCh37: 2:179418510-179418511 GRCh38: 2:178553783-178553784 |
25 |
TTN |
NM_001267550.2(TTN):c.32471-1G>A |
SNV |
Likely Pathogenic
|
194146 |
rs371725574 |
GRCh37: 2:179549717-179549717 GRCh38: 2:178684990-178684990 |
26 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.98606G>C (p.Arg32869Pro) |
SNV |
Likely Pathogenic
|
130686 |
rs587780495 |
GRCh37: 2:179404186-179404186 GRCh38: 2:178539459-178539459 |
27 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.107840T>C (p.Ile35947Thr) |
SNV |
Likely Pathogenic
|
56386 |
rs281864928 |
GRCh37: 2:179391875-179391875 GRCh38: 2:178527148-178527148 |
28 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.105383C>T (p.Ala35128Val) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
332687 |
rs758458467 |
GRCh37: 2:179395959-179395959 GRCh38: 2:178531232-178531232 |
29 |
TTN |
NM_001267550.2(TTN):c.31456A>T (p.Ile10486Phe) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
332894 |
rs772882862 |
GRCh37: 2:179558706-179558706 GRCh38: 2:178693979-178693979 |
30 |
TTN |
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
46931 |
rs55914517 |
GRCh37: 2:179647078-179647078 GRCh38: 2:178782351-178782351 |
31 |
TTN |
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
46841 |
rs111671438 |
GRCh37: 2:179563606-179563606 GRCh38: 2:178698879-178698879 |
32 |
TTN |
NM_001267550.2(TTN):c.266C>G (p.Ala89Gly) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
192099 |
rs200165636 |
GRCh37: 2:179666894-179666894 GRCh38: 2:178802167-178802167 |
33 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly) |
SNV |
Conflicting Interpretations Of Pathogenicity
Uncertain Significance
|
165664 |
rs200166942 |
GRCh37: 2:179401074-179401074 GRCh38: 2:178536347-178536347 |
34 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.75378T>A (p.Gly25126=) |
SNV |
Uncertain Significance
|
332779 |
rs886055246 |
GRCh37: 2:179435481-179435481 GRCh38: 2:178570754-178570754 |
35 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu) |
SNV |
Uncertain Significance
|
203026 |
rs377412567 |
GRCh37: 2:179407236-179407236 GRCh38: 2:178542509-178542509 |
36 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.58037T>C (p.Val19346Ala) |
SNV |
Uncertain Significance
|
332827 |
rs754793079 |
GRCh37: 2:179459184-179459184 GRCh38: 2:178594457-178594457 |
37 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.64687C>G (p.Pro21563Ala) |
SNV |
Uncertain Significance
|
332810 |
rs72646860 |
GRCh37: 2:179449681-179449681 GRCh38: 2:178584954-178584954 |
38 |
TTN |
NM_001267550.2(TTN):c.43316G>A (p.Arg14439His) |
SNV |
Uncertain Significance
|
332871 |
rs764117439 |
GRCh37: 2:179497417-179497417 GRCh38: 2:178632690-178632690 |
39 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu) |
SNV |
Uncertain Significance
|
47620 |
rs397517781 |
GRCh37: 2:179402104-179402104 GRCh38: 2:178537377-178537377 |
40 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.84405T>C (p.Tyr28135=) |
SNV |
Uncertain Significance
|
332749 |
rs756176112 |
GRCh37: 2:179426454-179426454 GRCh38: 2:178561727-178561727 |
41 |
TTN |
NM_001267550.2(TTN):c.45054G>A (p.Ala15018=) |
SNV |
Uncertain Significance
|
332863 |
rs781392140 |
GRCh37: 2:179486595-179486595 GRCh38: 2:178621868-178621868 |
42 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr) |
SNV |
Uncertain Significance
|
47409 |
rs376037252 |
GRCh37: 2:179428639-179428639 GRCh38: 2:178563912-178563912 |
43 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.48671G>C (p.Trp16224Ser) |
SNV |
Uncertain Significance
|
332849 |
rs886055270 |
GRCh37: 2:179479663-179479663 GRCh38: 2:178614936-178614936 |
44 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.73563C>G (p.Gly24521=) |
SNV |
Uncertain Significance
|
332785 |
rs756809007 |
GRCh37: 2:179437296-179437296 GRCh38: 2:178572569-178572569 |
45 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.58371C>T (p.Tyr19457=) |
SNV |
Uncertain Significance
|
332826 |
rs749167827 |
GRCh37: 2:179458749-179458749 GRCh38: 2:178594022-178594022 |
46 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser) |
SNV |
Uncertain Significance
|
202990 |
rs186234393 |
GRCh37: 2:179413654-179413654 GRCh38: 2:178548927-178548927 |
47 |
TTN |
NM_001267550.2(TTN):c.583+4C>T |
SNV |
Uncertain Significance
|
332972 |
rs764670848 |
GRCh37: 2:179665118-179665118 GRCh38: 2:178800391-178800391 |
48 |
TTN |
NM_001267550.2(TTN):c.40408+8del |
DEL |
Uncertain Significance
|
179522 |
rs727504922 |
GRCh37: 2:179510639-179510639 GRCh38: 2:178645912-178645912 |
49 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.78654T>C (p.His26218=) |
SNV |
Uncertain Significance
|
332772 |
rs886055244 |
GRCh37: 2:179432205-179432205 GRCh38: 2:178567478-178567478 |
50 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.82133A>C (p.Lys27378Thr) |
SNV |
Uncertain Significance
|
332760 |
rs886055240 |
GRCh37: 2:179428726-179428726 GRCh38: 2:178563999-178563999 |