Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs869312045
TTN ; TTN-AS1
2 178620853 frameshift variant -/T delins 1
rs727503697
TTN ; TTN-AS1 ; LOC101927055
2 178779055 stop gained G/A snv 1
rs869312105
TTN ; TTN-AS1
2 178635489 stop gained A/C;G snv 1
rs869312040
TTN-AS1 ; TTN
2 178706934 frameshift variant C/- del 1
rs869312102
TTN ; TTN-AS1
2 178741321 stop gained C/T snv 1
rs794729320
TTN-AS1 ; TTN
2 178614651 frameshift variant G/- delins 1
rs869312104
TTN-AS1 ; TTN
2 178739177 frameshift variant T/- delins 1
rs869312121
TTN ; TTN-AS1
2 178546476 stop gained G/A snv 7.0E-06 1
rs869312076
TTN ; TTN-AS1
2 178575341 frameshift variant T/- delins 1
rs768345594
TTN ; TTN-AS1
2 178585291 stop gained G/A;T snv 2.0E-05; 6.9E-05 1
rs727505224
TTN-AS1 ; TTN
2 178553061 stop gained G/A snv 1
rs1553607425
TTN ; TTN-AS1
2 178572745 frameshift variant C/- delins 1
rs869312059
TTN-AS1 ; TTN
2 178564863 frameshift variant GCATCTGA/- delins 1
rs777602537
TTN ; TTN-AS1
2 178576614 stop gained G/A;T snv 5.6E-05 1
rs869312078
TTN-AS1 ; TTN
2 178569746 frameshift variant AATT/- delins 1
rs397517601
TTN ; TTN-AS1
2 178611611 stop gained C/T snv 4.0E-06 1
rs869312057
TTN-AS1 ; TTN
2 178567948 stop gained C/A snv 1
rs727504499
TTN-AS1 ; TTN
2 178632294 stop gained G/A snv 1.4E-05 1
rs869312075
TTN ; TTN-AS1
2 178576289 frameshift variant T/-;TTTT delins 1
rs869312087
TTN ; TTN-AS1
2 178535593 frameshift variant CT/- delins 1
rs397517830
TTN ; TTN-AS1
2 178741025 stop gained C/A;T snv 4.0E-06 1
rs727504843
TTN ; TTN-AS1
2 178718815 stop gained C/A snv 1
rs869312056
TTN-AS1 ; TTN
2 178571825 frameshift variant -/T delins 1
rs869312050
TTN-AS1 ; TTN
2 178608783 frameshift variant -/TTTTC delins 1
rs397517624
TTN-AS1 ; TTN
2 178599145 splice donor variant C/T snv 1