Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.55153999A>T | CA2576892639 | TNNI3 | c.549+31T>A (n.549+31T>A) c.582+31T>A (n.582+31T>A) n.548+31T>A c.474+31T>A (n.474+31T>A) n.377+31T>A | |
19 | g.55154000dup | CA2587243544 | TNNI3 | c.549+30dup (n.549+30dup) c.582+30dup (n.582+30dup) n.548+30dup c.474+30dup (n.474+30dup) n.377+30dup | gnomAD v4 |
19 | g.55154001C>A | CA2587243546 | TNNI3 | c.549+29G>T (n.549+29G>T) c.582+29G>T (n.582+29G>T) n.548+29G>T c.474+29G>T (n.474+29G>T) n.377+29G>T | gnomAD v4 |
19 | g.55154001C= | CA2343273685 | TNNI3 | c.549+29G= (n.549+29G=) c.582+29G= (n.582+29G=) n.548+29G= c.474+29G= (n.474+29G=) n.377+29G= | |
19 | g.55154001C>G | CA051723 | TNNI3 | c.549+29G>C (n.549+29G>C) c.582+29G>C (n.582+29G>C) n.548+29G>C c.474+29G>C (n.474+29G>C) n.377+29G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.55154002C>T | CA2587243547 | TNNI3 | c.549+28G>A (n.549+28G>A) c.582+28G>A (n.582+28G>A) n.548+28G>A c.474+28G>A (n.474+28G>A) n.377+28G>A | gnomAD v4 |
19 | g.55154003T>A | CA997261366 | TNNI3 | c.549+27A>T (n.549+27A>T) c.582+27A>T (n.582+27A>T) n.548+27A>T c.474+27A>T (n.474+27A>T) n.377+27A>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55154003T>C | CA2549564411 | TNNI3 | c.549+27A>G (n.549+27A>G) c.582+27A>G (n.582+27A>G) n.548+27A>G c.474+27A>G (n.474+27A>G) n.377+27A>G | |
19 | g.55154003T= | CA2343273686 | TNNI3 | c.549+27A= (n.549+27A=) c.582+27A= (n.582+27A=) n.548+27A= c.474+27A= (n.474+27A=) n.377+27A= | |
19 | g.55154004C= | CA2343273687 | TNNI3 | c.549+26G= (n.549+26G=) c.582+26G= (n.582+26G=) n.548+26G= c.474+26G= (n.474+26G=) n.377+26G= | |
19 | g.55154004C>G | CA310148262 | TNNI3 | c.549+26G>C (n.549+26G>C) c.582+26G>C (n.582+26G>C) n.548+26G>C c.474+26G>C (n.474+26G>C) n.377+26G>C | dbSNP |
19 | g.55154004_55154005delinsCT | CA2343273688 | TNNI3 | c.549+25_549+26delinsAG (n.549+25_549+26delinsAG) c.582+25_582+26delinsAG (n.582+25_582+26delinsAG) n.548+25_548+26delinsAG c.474+25_474+26delinsAG (n.474+25_474+26delinsAG) n.377+25_377+26delinsAG | |
19 | g.55154005T>A | CA2587243550 | TNNI3 | c.549+25A>T (n.549+25A>T) c.582+25A>T (n.582+25A>T) n.548+25A>T c.474+25A>T (n.474+25A>T) n.377+25A>T | gnomAD v4 |
19 | g.55154005T>C | CA633906542 | TNNI3 | c.549+25A>G (n.549+25A>G) c.582+25A>G (n.582+25A>G) n.548+25A>G c.474+25A>G (n.474+25A>G) n.377+25A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.55154005T= | CA2343273689 | TNNI3 | c.549+25A= (n.549+25A=) c.582+25A= (n.582+25A=) n.548+25A= c.474+25A= (n.474+25A=) n.377+25A= | |
19 | g.55154007del | CA633906541 | TNNI3 | c.549+25del (n.549+25del) c.582+25del (n.582+25del) n.548+25del c.474+25del (n.474+25del) n.377+25del | dbSNP gnomAD v2 |
19 | g.55154007_55154008delinsTC | CA2343273690 | TNNI3 | c.549+22_549+23delinsGA (n.549+22_549+23delinsGA) c.582+22_582+23delinsGA (n.582+22_582+23delinsGA) n.548+22_548+23delinsGA c.474+22_474+23delinsGA (n.474+22_474+23delinsGA) n.377+22_377+23delinsGA | |
19 | g.55154009del | CA2343273691 | TNNI3 | c.549+22del (n.549+22del) c.582+22del (n.582+22del) n.548+22del c.474+22del (n.474+22del) n.377+22del | dbSNP |
19 | g.55154009C>T | CA2587243554 | TNNI3 | c.549+21G>A (n.549+21G>A) c.582+21G>A (n.582+21G>A) n.548+21G>A c.474+21G>A (n.474+21G>A) n.377+21G>A | gnomAD v4 |
19 | g.55154010T>C | CA051718 | TNNI3 | c.549+20A>G (n.549+20A>G) c.582+20A>G (n.582+20A>G) n.548+20A>G c.474+20A>G (n.474+20A>G) n.377+20A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.55154010T= | CA2343273692 | TNNI3 | c.549+20A= (n.549+20A=) c.582+20A= (n.582+20A=) n.548+20A= c.474+20A= (n.474+20A=) n.377+20A= | |
19 | g.55154011G>T | CA2587243557 | TNNI3 | c.549+19C>A (n.549+19C>A) c.582+19C>A (n.582+19C>A) n.548+19C>A c.474+19C>A (n.474+19C>A) n.377+19C>A | gnomAD v4 |
19 | g.55154012G>A | CA633906543 | TNNI3 | c.549+18C>T (n.549+18C>T) c.582+18C>T (n.582+18C>T) n.548+18C>T c.474+18C>T (n.474+18C>T) n.377+18C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.55154012G= | CA2343273693 | TNNI3 | c.549+18C= (n.549+18C=) c.582+18C= (n.582+18C=) n.548+18C= c.474+18C= (n.474+18C=) n.377+18C= | |
19 | g.55154012G>T | CA2587243560 | TNNI3 | c.549+18C>A (n.549+18C>A) c.582+18C>A (n.582+18C>A) n.548+18C>A c.474+18C>A (n.474+18C>A) n.377+18C>A | gnomAD v4 |
19 | g.55154013C= | CA2343273694 | TNNI3 | c.549+17G= (n.549+17G=) c.582+17G= (n.582+17G=) n.548+17G= c.474+17G= (n.474+17G=) n.377+17G= | |
19 | g.55154013C>T | CA633906544 | TNNI3 | c.549+17G>A (n.549+17G>A) c.582+17G>A (n.582+17G>A) n.548+17G>A c.474+17G>A (n.474+17G>A) n.377+17G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.55154014C= | CA2343273695 | TNNI3 | c.549+16G= (n.549+16G=) c.582+16G= (n.582+16G=) n.548+16G= c.474+16G= (n.474+16G=) n.377+16G= | |
19 | g.55154014C>T | CA021865 | TNNI3 | c.549+16G>A (n.549+16G>A) c.582+16G>A (n.582+16G>A) n.548+16G>A c.474+16G>A (n.474+16G>A) n.377+16G>A | dbSNP gnomAD v4 |
19 | g.55154016T>C | CA2587243563 | TNNI3 | c.549+14A>G (n.549+14A>G) c.582+14A>G (n.582+14A>G) n.548+14A>G c.474+14A>G (n.474+14A>G) n.377+14A>G | gnomAD v4 |
19 | g.55154017A>C | CA2587243564 | TNNI3 | c.549+13T>G (n.549+13T>G) c.582+13T>G (n.582+13T>G) n.548+13T>G c.474+13T>G (n.474+13T>G) n.377+13T>G | gnomAD v4 |
19 | g.55154018G>C | CA2587243568 | TNNI3 | c.549+12C>G (n.549+12C>G) c.582+12C>G (n.582+12C>G) n.548+12C>G c.474+12C>G (n.474+12C>G) n.377+12C>G | gnomAD v4 |
19 | g.55154018G>T | CA2587243566 | TNNI3 | c.549+12C>A (n.549+12C>A) c.582+12C>A (n.582+12C>A) n.548+12C>A c.474+12C>A (n.474+12C>A) n.377+12C>A | gnomAD v4 |
19 | g.55154019C>A | CA2587243569 | TNNI3 | c.549+11G>T (n.549+11G>T) c.582+11G>T (n.582+11G>T) n.548+11G>T c.474+11G>T (n.474+11G>T) n.377+11G>T | gnomAD v4 |
19 | g.55154019C>G | CA2587243570 | TNNI3 | c.549+11G>C (n.549+11G>C) c.582+11G>C (n.582+11G>C) n.548+11G>C c.474+11G>C (n.474+11G>C) n.377+11G>C | gnomAD v4 |
19 | g.55154021C= | CA2343273696 | TNNI3 | c.549+9G= (n.549+9G=) c.582+9G= (n.582+9G=) n.548+9G= c.474+9G= (n.474+9G=) n.377+9G= | |
19 | g.55154021C>G | CA2343273697 | TNNI3 | c.549+9G>C (n.549+9G>C) c.582+9G>C (n.582+9G>C) n.548+9G>C c.474+9G>C (n.474+9G>C) n.377+9G>C | dbSNP |
19 | g.55154022A>C | CA997261367 | TNNI3 | c.549+8T>G (n.549+8T>G) c.582+8T>G (n.582+8T>G) n.548+8T>G c.474+8T>G (n.474+8T>G) n.377+8T>G | gnomAD v3 gnomAD v4 |
19 | g.55154026_55154029del | CA2580097803 | TNNI3 | c.549+4_549+7del (n.549+4_549+7del) c.582+4_582+7del (n.582+4_582+7del) n.548+4_548+7del c.474+4_474+7del (n.474+4_474+7del) n.377+4_377+7del | ClinVar |
19 | g.55154024A= | CA2343273699 | TNNI3 | c.549+6T= (n.549+6T=) c.582+6T= (n.582+6T=) n.548+6T= c.474+6T= (n.474+6T=) n.377+6T= | |
19 | g.55154024A>C | CA997261368 | TNNI3 | c.549+6T>G (n.549+6T>G) c.582+6T>G (n.582+6T>G) n.548+6T>G c.474+6T>G (n.474+6T>G) n.377+6T>G | gnomAD v3 gnomAD v4 |
19 | g.55154024A>G | CA2343273698 | TNNI3 | c.549+6T>C (n.549+6T>C) c.582+6T>C (n.582+6T>C) n.548+6T>C c.474+6T>C (n.474+6T>C) n.377+6T>C | dbSNP gnomAD v4 |
19 | g.55154024A>T | CA997261369 | TNNI3 | c.549+6T>A (n.549+6T>A) c.582+6T>A (n.582+6T>A) n.548+6T>A c.474+6T>A (n.474+6T>A) n.377+6T>A | gnomAD v3 gnomAD v4 |
19 | g.55154025C>T | CA2587243573 | TNNI3 | c.549+5G>A (n.549+5G>A) c.582+5G>A (n.582+5G>A) n.548+5G>A c.474+5G>A (n.474+5G>A) n.377+5G>A | ClinVar gnomAD v4 |
19 | g.55154026T>A | CA891843807 | TNNI3 | c.549+4A>T (n.549+4A>T) c.582+4A>T (n.582+4A>T) n.548+4A>T c.474+4A>T (n.474+4A>T) n.377+4A>T | ClinVar dbSNP gnomAD v4 |
19 | g.55154026T>C | CA633906545 | TNNI3 | c.549+4A>G (n.549+4A>G) c.582+4A>G (n.582+4A>G) n.548+4A>G c.474+4A>G (n.474+4A>G) n.377+4A>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.55154026T= | CA2343273700 | TNNI3 | c.549+4A= (n.549+4A=) c.582+4A= (n.582+4A=) n.548+4A= c.474+4A= (n.474+4A=) n.377+4A= | |
19 | g.55154027C>A | CA051731 | TNNI3 | c.549+3G>T (n.549+3G>T) c.582+3G>T (n.582+3G>T) n.548+3G>T c.474+3G>T (n.474+3G>T) n.377+3G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.55154027C= | CA2343273701 | TNNI3 | c.549+3G= (n.549+3G=) c.582+3G= (n.582+3G=) n.548+3G= c.474+3G= (n.474+3G=) n.377+3G= | |
19 | g.55154027C>T | CA2343273702 | TNNI3 | c.549+3G>A (n.549+3G>A) c.582+3G>A (n.582+3G>A) n.548+3G>A c.474+3G>A (n.474+3G>A) n.377+3G>A | dbSNP |
19 | g.55154028del | CA2695229156 | TNNI3 | c.549+2del (n.549+2del) c.582+2del (n.582+2del) n.548+2del c.474+2del (n.474+2del) n.377+2del | |
19 | g.55154028A= | CA2343273703 | TNNI3 | c.549+2T= (n.549+2T=) c.582+2T= (n.582+2T=) n.548+2T= c.474+2T= (n.474+2T=) n.377+2T= | |
19 | g.55154028A>C | CA407440171 | TNNI3 | c.549+2T>G (n.549+2T>G) c.582+2T>G (n.582+2T>G) n.548+2T>G c.474+2T>G (n.474+2T>G) n.377+2T>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55154028A>G | CA407440173 | TNNI3 | c.549+2T>C (n.549+2T>C) c.582+2T>C (n.582+2T>C) n.548+2T>C c.474+2T>C (n.474+2T>C) n.377+2T>C | |
19 | g.55154028A>T | CA310148267 | TNNI3 | c.549+2T>A (n.549+2T>A) c.582+2T>A (n.582+2T>A) n.548+2T>A c.474+2T>A (n.474+2T>A) n.377+2T>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55154028_55154043delinsACCTTCTCGGTGTCCT | CA2343273704 | TNNI3 | c.536_549+2delinsAGGACACCGAGAAGGT c.569_582+2delinsAGGACACCGAGAAGGT n.535_548+2delinsAGGACACCGAGAAGGT c.461_474+2delinsAGGACACCGAGAAGGT n.364_377+2delinsAGGACACCGAGAAGGT | |
19 | g.55154029C>A | CA407440177 | TNNI3 | c.549+1G>T (n.549+1G>T) c.582+1G>T (n.582+1G>T) n.548+1G>T c.474+1G>T (n.474+1G>T) n.377+1G>T | |
19 | g.55154029C>G | CA407440176 | TNNI3 | c.549+1G>C (n.549+1G>C) c.582+1G>C (n.582+1G>C) n.548+1G>C c.474+1G>C (n.474+1G>C) n.377+1G>C | |
19 | g.55154029C>T | CA407440175 | TNNI3 | c.549+1G>A (n.549+1G>A) c.582+1G>A (n.582+1G>A) n.548+1G>A c.474+1G>A (n.474+1G>A) n.377+1G>A | |
19 | g.55154035_55154049del | CA2343273705 | TNNI3 | c.536_549+1del c.569_582+1del n.535_548+1del c.461_474+1del n.364_377+1del | ClinVar dbSNP |
19 | g.55154030C>A | CA407440179 | TNNI3 | c.549G>T (p.Lys183Asn) c.582G>T (p.Lys194Asn) n.548G>T c.474G>T (p.Lys158Asn) n.377G>T | ClinVar dbSNP |
19 | g.55154030C= | CA2343273706 | TNNI3 | c.549G= (p.Lys183=) c.582G= (p.Lys194=) n.548G= c.474G= (p.Lys158=) n.377G= | |
19 | g.55154030C>G | CA407440180 | TNNI3 | c.549G>C (p.Lys183Asn) c.582G>C (p.Lys194Asn) n.548G>C c.474G>C (p.Lys158Asn) n.377G>C | dbSNP |
19 | g.55154030C>T | CA508989365 | TNNI3 | c.549G>A (p.Lys183=) c.582G>A (p.Lys194=) n.548G>A c.474G>A (p.Lys158=) n.377G>A | |
19 | g.55154032_55154034del | CA2499225605 | TNNI3 | c.547_549del (p.Lys183del) c.580_582del (p.Lys194del) n.546_548del c.472_474del (p.Lys158del) n.375_377del | ClinVar dbSNP |
19 | g.55154031T>A | CA407440182 | TNNI3 | c.548A>T (p.Lys183Met) c.581A>T (p.Lys194Met) n.547A>T c.473A>T (p.Lys158Met) n.376A>T | |
19 | g.55154031T>C | CA407440183 | TNNI3 | c.548A>G (p.Lys183Arg) c.581A>G (p.Lys194Arg) n.547A>G c.473A>G (p.Lys158Arg) n.376A>G | ClinVar |
19 | g.55154031T>G | CA021859 | TNNI3 | c.548A>C (p.Lys183Thr) c.581A>C (p.Lys194Thr) n.547A>C c.473A>C (p.Lys158Thr) n.376A>C | ClinVar dbSNP |
19 | g.55154031T= | CA2343273707 | TNNI3 | c.548A= (p.Lys183=) c.581A= (p.Lys194=) n.547A= c.473A= (p.Lys158=) n.376A= | |
19 | g.55154031_55154032delinsAC | CA2580097804 | TNNI3 | c.547_548delinsGT (p.Lys183Val) c.580_581delinsGT (p.Lys194Val) n.546_547delinsGT c.472_473delinsGT (p.Lys158Val) n.375_376delinsGT | ClinVar |
19 | g.55154032T>A | CA407440186 | TNNI3 | c.547A>T (p.Lys183Ter) c.580A>T (p.Lys194Ter) n.546A>T c.472A>T (p.Lys158Ter) n.375A>T | |
19 | g.55154032T>C | CA021854 | TNNI3 | c.547A>G (p.Lys183Glu) c.580A>G (p.Lys194Glu) n.546A>G c.472A>G (p.Lys158Glu) n.375A>G | ClinVar dbSNP |
19 | g.55154032T>G | CA407440188 | TNNI3 | c.547A>C (p.Lys183Gln) c.580A>C (p.Lys194Gln) n.546A>C c.472A>C (p.Lys158Gln) n.375A>C | |
19 | g.55154032T= | CA2343273708 | TNNI3 | c.547A= (p.Lys183=) c.580A= (p.Lys194=) n.546A= c.472A= (p.Lys158=) n.375A= | |
19 | g.55154033C>A | CA407440189 | TNNI3 | c.546G>T (p.Glu182Asp) c.579G>T (p.Glu193Asp) n.545G>T c.471G>T (p.Glu157Asp) n.374G>T | |
19 | g.55154033C>G | CA407440191 | TNNI3 | c.546G>C (p.Glu182Asp) c.579G>C (p.Glu193Asp) n.545G>C c.471G>C (p.Glu157Asp) n.374G>C | |
19 | g.55154033C>T | CA508989366 | TNNI3 | c.546G>A (p.Glu182=) c.579G>A (p.Glu193=) n.545G>A c.471G>A (p.Glu157=) n.374G>A | ClinVar dbSNP |
19 | g.55154034T>A | CA407440193 | TNNI3 | c.545A>T (p.Glu182Val) c.578A>T (p.Glu193Val) n.544A>T c.470A>T (p.Glu157Val) n.373A>T | |
19 | g.55154034T>C | CA407440195 | TNNI3 | c.545A>G (p.Glu182Gly) c.578A>G (p.Glu193Gly) n.544A>G c.470A>G (p.Glu157Gly) n.373A>G | |
19 | g.55154034T>G | CA407440198 | TNNI3 | c.545A>C (p.Glu182Ala) c.578A>C (p.Glu193Ala) n.544A>C c.470A>C (p.Glu157Ala) n.373A>C | |
19 | g.55154035C>A | CA407440203 | TNNI3 | c.544G>T (p.Glu182Ter) c.577G>T (p.Glu193Ter) n.543G>T c.469G>T (p.Glu157Ter) n.372G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.55154035C= | CA2343273709 | TNNI3 | c.544G= (p.Glu182=) c.577G= (p.Glu193=) n.543G= c.469G= (p.Glu157=) n.372G= | |
19 | g.55154035C>G | CA407440200 | TNNI3 | c.544G>C (p.Glu182Gln) c.577G>C (p.Glu193Gln) n.543G>C c.469G>C (p.Glu157Gln) n.372G>C | |
19 | g.55154035C>T | CA021848 | TNNI3 | c.544G>A (p.Glu182Lys) c.577G>A (p.Glu193Lys) n.543G>A c.469G>A (p.Glu157Lys) n.372G>A | ClinVar dbSNP gnomAD v4 |
19 | g.55154036G>A | CA310148279 | TNNI3 | c.543C>T (p.Thr181=) c.576C>T (p.Thr192=) n.542C>T c.468C>T (p.Thr156=) n.371C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.55154036G>C | CA508989367 | TNNI3 | c.543C>G (p.Thr181=) c.576C>G (p.Thr192=) n.542C>G c.468C>G (p.Thr156=) n.371C>G | ClinVar dbSNP gnomAD v4 |
19 | g.55154036G= | CA2343273710 | TNNI3 | c.543C= (p.Thr181=) c.576C= (p.Thr192=) n.542C= c.468C= (p.Thr156=) n.371C= | |
19 | g.55154036G>T | CA508989368 | TNNI3 | c.543C>A (p.Thr181=) c.576C>A (p.Thr192=) n.542C>A c.468C>A (p.Thr156=) n.371C>A | gnomAD v4 |
19 | g.55154037del | CA2739289551 | TNNI3 | c.543del (p.Glu182ArgfsTer17) c.576del (p.Glu193ArgfsTer17) n.542del c.468del (p.Glu157ArgfsTer17) n.371del | |
19 | g.55154037G>A | CA407440205 | TNNI3 | c.542C>T (p.Thr181Ile) c.575C>T (p.Thr192Ile) n.541C>T c.467C>T (p.Thr156Ile) n.370C>T | dbSNP |
19 | g.55154037G>C | CA407440210 | TNNI3 | c.542C>G (p.Thr181Ser) c.575C>G (p.Thr192Ser) n.541C>G c.467C>G (p.Thr156Ser) n.370C>G | |
19 | g.55154037G>T | CA407440211 | TNNI3 | c.542C>A (p.Thr181Asn) c.575C>A (p.Thr192Asn) n.541C>A c.467C>A (p.Thr156Asn) n.370C>A | gnomAD v4 |
19 | g.55154038T>A | CA407440213 | TNNI3 | c.541A>T (p.Thr181Ser) c.574A>T (p.Thr192Ser) n.540A>T c.466A>T (p.Thr156Ser) n.369A>T | |
19 | g.55154038T>C | CA051716 | TNNI3 | c.541A>G (p.Thr181Ala) c.574A>G (p.Thr192Ala) n.540A>G c.466A>G (p.Thr156Ala) n.369A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.55154038T>G | CA407440216 | TNNI3 | c.541A>C (p.Thr181Pro) c.574A>C (p.Thr192Pro) n.540A>C c.466A>C (p.Thr156Pro) n.369A>C | |
19 | g.55154038T= | CA2343273711 | TNNI3 | c.541A= (p.Thr181=) c.574A= (p.Thr192=) n.540A= c.466A= (p.Thr156=) n.369A= | |
19 | g.55154039G>A | CA508989369 | TNNI3 | c.540C>T (p.Asp180=) c.573C>T (p.Asp191=) n.539C>T c.465C>T (p.Asp155=) n.368C>T | |
19 | g.55154039G>C | CA407440217 | TNNI3 | c.540C>G (p.Asp180Glu) c.573C>G (p.Asp191Glu) n.539C>G c.465C>G (p.Asp155Glu) n.368C>G | |
19 | g.55154039G>T | CA407440219 | TNNI3 | c.540C>A (p.Asp180Glu) c.573C>A (p.Asp191Glu) n.539C>A c.465C>A (p.Asp155Glu) n.368C>A | gnomAD v4 |
19 | g.55154040T>A | CA407440221 | TNNI3 | c.539A>T (p.Asp180Val) c.572A>T (p.Asp191Val) n.538A>T c.464A>T (p.Asp155Val) n.367A>T | |
19 | g.55154040T>C | CA16609776 | TNNI3 | c.539A>G (p.Asp180Gly) c.572A>G (p.Asp191Gly) n.538A>G c.464A>G (p.Asp155Gly) n.367A>G | ClinVar dbSNP |
19 | g.55154040T>G | CA407440223 | TNNI3 | c.539A>C (p.Asp180Ala) c.572A>C (p.Asp191Ala) n.538A>C c.464A>C (p.Asp155Ala) n.367A>C | |
19 | g.55154040T= | CA2343273713 | TNNI3 | c.539A= (p.Asp180=) c.572A= (p.Asp191=) n.538A= c.464A= (p.Asp155=) n.367A= | |
19 | g.55154040_55154041delinsTC | CA2343273712 | TNNI3 | c.538_539delinsGA (p.Asp180=) c.571_572delinsGA (p.Asp191=) n.537_538delinsGA c.463_464delinsGA (p.Asp155=) n.366_367delinsGA | |
19 | g.55154044_55154046del | CA2580614977 | TNNI3 | c.537_539del (p.Glu179del) c.570_572del (p.Glu190del) n.536_538del c.462_464del (p.Glu154del) n.365_367del | ClinVar |
19 | g.55154041C>A | CA407440225 | TNNI3 | c.538G>T (p.Asp180Tyr) c.571G>T (p.Asp191Tyr) n.537G>T c.463G>T (p.Asp155Tyr) n.366G>T | |
19 | g.55154041C= | CA2343273714 | TNNI3 | c.538G= (p.Asp180=) c.571G= (p.Asp191=) n.537G= c.463G= (p.Asp155=) n.366G= | |
19 | g.55154041C>G | CA407440227 | TNNI3 | c.538G>C (p.Asp180His) c.571G>C (p.Asp191His) n.537G>C c.463G>C (p.Asp155His) n.366G>C | |
19 | g.55154041C>T | CA16616429 | TNNI3 | c.538G>A (p.Asp180Asn) c.571G>A (p.Asp191Asn) n.537G>A c.463G>A (p.Asp155Asn) n.366G>A | ClinVar dbSNP |
19 | g.55154042del | CA10577115 | TNNI3 | c.538del (p.Asp180ThrfsTer19) c.571del (p.Asp191ThrfsTer19) n.537del c.463del (p.Asp155ThrfsTer19) n.366del | ClinVar dbSNP gnomAD v4 |
19 | g.55154042C>A | CA407440228 | TNNI3 | c.537G>T (p.Glu179Asp) c.570G>T (p.Glu190Asp) n.536G>T c.462G>T (p.Glu154Asp) n.365G>T | |
19 | g.55154042C= | CA2343273716 | TNNI3 | c.537G= (p.Glu179=) c.570G= (p.Glu190=) n.536G= c.462G= (p.Glu154=) n.365G= | |
19 | g.55154042C>G | CA407440230 | TNNI3 | c.537G>C (p.Glu179Asp) c.570G>C (p.Glu190Asp) n.536G>C c.462G>C (p.Glu154Asp) n.365G>C | |
19 | g.55154042C>T | CA021842 | TNNI3 | c.537G>A (p.Glu179=) c.570G>A (p.Glu190=) n.536G>A c.462G>A (p.Glu154=) n.365G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.55154042_55154043delinsCT | CA2343273715 | TNNI3 | c.536_537delinsAG (p.Glu179=) c.569_570delinsAG (p.Glu190=) n.535_536delinsAG c.461_462delinsAG (p.Glu154=) n.364_365delinsAG | |
19 | g.55154043del | CA883722022 | TNNI3 | c.536del (p.Glu179GlyfsTer20) c.569del (p.Glu190GlyfsTer20) n.535del c.461del (p.Glu154GlyfsTer20) n.364del | ClinVar dbSNP |
19 | g.55154043T>A | CA407440234 | TNNI3 | c.536A>T (p.Glu179Val) c.569A>T (p.Glu190Val) n.535A>T c.461A>T (p.Glu154Val) n.364A>T | |
19 | g.55154043T>C | CA407440236 | TNNI3 | c.536A>G (p.Glu179Gly) c.569A>G (p.Glu190Gly) n.535A>G c.461A>G (p.Glu154Gly) n.364A>G | ClinVar dbSNP |
19 | g.55154043T>G | CA407440238 | TNNI3 | c.536A>C (p.Glu179Ala) c.569A>C (p.Glu190Ala) n.535A>C c.461A>C (p.Glu154Ala) n.364A>C | |
19 | g.55154044C>A | CA407440239 | TNNI3 | c.535G>T (p.Glu179Ter) c.568G>T (p.Glu190Ter) n.534G>T c.460G>T (p.Glu154Ter) n.363G>T | |
19 | g.55154044C>G | CA407440241 | TNNI3 | c.535G>C (p.Glu179Gln) c.568G>C (p.Glu190Gln) n.534G>C c.460G>C (p.Glu154Gln) n.363G>C | ClinVar dbSNP |
19 | g.55154044C>T | CA407440242 | TNNI3 | c.535G>A (p.Glu179Lys) c.568G>A (p.Glu190Lys) n.534G>A c.460G>A (p.Glu154Lys) n.363G>A | |
19 | g.55154044_55154047delinsCCTT | CA2343273717 | TNNI3 | c.532_535delinsAAGG (p.Lys178=) c.565_568delinsAAGG (p.Lys189=) n.531_534delinsAAGG c.457_460delinsAAGG (p.Lys153=) n.360_363delinsAAGG | |
19 | g.55154045C>A | CA407440244 | TNNI3 | c.534G>T (p.Lys178Asn) c.567G>T (p.Lys189Asn) n.533G>T c.459G>T (p.Lys153Asn) n.362G>T | ClinVar |
19 | g.55154045C= | CA2343273718 | TNNI3 | c.534G= (p.Lys178=) c.567G= (p.Lys189=) n.533G= c.459G= (p.Lys153=) n.362G= | |
19 | g.55154045C>G | CA407440246 | TNNI3 | c.534G>C (p.Lys178Asn) c.567G>C (p.Lys189Asn) n.533G>C c.459G>C (p.Lys153Asn) n.362G>C | |
19 | g.55154045C>T | CA508989370 | TNNI3 | c.534G>A (p.Lys178=) c.567G>A (p.Lys189=) n.533G>A c.459G>A (p.Lys153=) n.362G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55154049_55154051del | CA021828 | TNNI3 | c.532_534del (p.Lys178del) c.565_567del (p.Lys189del) n.531_533del c.457_459del (p.Lys153del) n.360_362del | ClinVar dbSNP |
19 | g.55154046T>A | CA407440251 | TNNI3 | c.533A>T (p.Lys178Met) c.566A>T (p.Lys189Met) n.532A>T c.458A>T (p.Lys153Met) n.361A>T | |
19 | g.55154046T>C | CA407440249 | TNNI3 | c.533A>G (p.Lys178Arg) c.566A>G (p.Lys189Arg) n.532A>G c.458A>G (p.Lys153Arg) n.361A>G | ClinVar dbSNP |
19 | g.55154046T>G | CA407440248 | TNNI3 | c.533A>C (p.Lys178Thr) c.566A>C (p.Lys189Thr) n.532A>C c.458A>C (p.Lys153Thr) n.361A>C | ClinVar |
19 | g.55154046T= | CA2343273719 | TNNI3 | c.533A= (p.Lys178=) c.566A= (p.Lys189=) n.532A= c.458A= (p.Lys153=) n.361A= | |
19 | g.55154047T>A | CA407440252 | TNNI3 | c.532A>T (p.Lys178Ter) c.565A>T (p.Lys189Ter) n.531A>T c.457A>T (p.Lys153Ter) n.360A>T | |
19 | g.55154047T>C | CA021835 | TNNI3 | c.532A>G (p.Lys178Glu) c.565A>G (p.Lys189Glu) n.531A>G c.457A>G (p.Lys153Glu) n.360A>G | ClinVar dbSNP |
19 | g.55154047T>G | CA407440254 | TNNI3 | c.532A>C (p.Lys178Gln) c.565A>C (p.Lys189Gln) n.531A>C c.457A>C (p.Lys153Gln) n.360A>C | |
19 | g.55154047T= | CA2343273720 | TNNI3 | c.532A= (p.Lys178=) c.565A= (p.Lys189=) n.531A= c.457A= (p.Lys153=) n.360A= | |
19 | g.55154048C>A | CA407440256 | TNNI3 | c.531G>T (p.Lys177Asn) c.564G>T (p.Lys188Asn) n.530G>T c.456G>T (p.Lys152Asn) n.359G>T | ClinVar |
19 | g.55154048C>G | CA407440257 | TNNI3 | c.531G>C (p.Lys177Asn) c.564G>C (p.Lys188Asn) n.530G>C c.456G>C (p.Lys152Asn) n.359G>C | |
19 | g.55154048C>T | CA508989371 | TNNI3 | c.531G>A (p.Lys177=) c.564G>A (p.Lys188=) n.530G>A c.456G>A (p.Lys152=) n.359G>A | |
19 | g.55154049T>A | CA407440259 | TNNI3 | c.530A>T (p.Lys177Met) c.563A>T (p.Lys188Met) n.529A>T c.455A>T (p.Lys152Met) n.358A>T | |
19 | g.55154049T>C | CA407440262 | TNNI3 | c.530A>G (p.Lys177Arg) c.563A>G (p.Lys188Arg) n.529A>G c.455A>G (p.Lys152Arg) n.358A>G | |
19 | g.55154049T>G | CA407440263 | TNNI3 | c.530A>C (p.Lys177Thr) c.563A>C (p.Lys188Thr) n.529A>C c.455A>C (p.Lys152Thr) n.358A>C | |
19 | g.55154049_55154050del | CA2695229157 | TNNI3 | c.529_530del (p.Lys177GlufsTer?) c.562_563del (p.Lys188GlufsTer?) n.528_529del c.454_455del (p.Lys152GlufsTer?) n.357_358del | |
19 | g.55154050T>A | CA407440264 | TNNI3 | c.529A>T (p.Lys177Ter) c.562A>T (p.Lys188Ter) n.528A>T c.454A>T (p.Lys152Ter) n.357A>T | |
19 | g.55154050T>C | CA407440265 | TNNI3 | c.529A>G (p.Lys177Glu) c.562A>G (p.Lys188Glu) n.528A>G c.454A>G (p.Lys152Glu) n.357A>G | |
19 | g.55154050T>G | CA407440266 | TNNI3 | c.529A>C (p.Lys177Gln) c.562A>C (p.Lys188Gln) n.528A>C c.454A>C (p.Lys152Gln) n.357A>C | |
19 | g.55154051C>A | CA508989372 | TNNI3 | c.528G>T (p.Val176=) c.561G>T (p.Val187=) n.527G>T c.453G>T (p.Val151=) n.356G>T | |
19 | g.55154051C>G | CA508989373 | TNNI3 | c.528G>C (p.Val176=) c.561G>C (p.Val187=) n.527G>C c.453G>C (p.Val151=) n.356G>C | |
19 | g.55154051C>T | CA508989374 | TNNI3 | c.528G>A (p.Val176=) c.561G>A (p.Val187=) n.527G>A c.453G>A (p.Val151=) n.356G>A | gnomAD v4 |
19 | g.55154052A= | CA2343273721 | TNNI3 | c.527T= (p.Val176=) c.560T= (p.Val187=) n.526T= c.452T= (p.Val151=) n.355T= | |
19 | g.55154052A>C | CA407440267 | TNNI3 | c.527T>G (p.Val176Gly) c.560T>G (p.Val187Gly) n.526T>G c.452T>G (p.Val151Gly) n.355T>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55154052A>G | CA407440268 | TNNI3 | c.527T>C (p.Val176Ala) c.560T>C (p.Val187Ala) n.526T>C c.452T>C (p.Val151Ala) n.355T>C | |
19 | g.55154052A>T | CA407440269 | TNNI3 | c.527T>A (p.Val176Glu) c.560T>A (p.Val187Glu) n.526T>A c.452T>A (p.Val151Glu) n.355T>A | |
19 | g.55154053C>A | CA407440271 | TNNI3 | c.526G>T (p.Val176Leu) c.559G>T (p.Val187Leu) n.525G>T c.451G>T (p.Val151Leu) n.354G>T | |
19 | g.55154053C= | CA2343273722 | TNNI3 | c.526G= (p.Val176=) c.559G= (p.Val187=) n.525G= c.451G= (p.Val151=) n.354G= | |
19 | g.55154053C>G | CA407440270 | TNNI3 | c.526G>C (p.Val176Leu) c.559G>C (p.Val187Leu) n.525G>C c.451G>C (p.Val151Leu) n.354G>C | |
19 | g.55154053C>T | CA021822 | TNNI3 | c.526G>A (p.Val176Met) c.559G>A (p.Val187Met) n.525G>A c.451G>A (p.Val151Met) n.354G>A | ClinVar dbSNP |
19 | g.55154054C>A | CA407440272 | TNNI3 | c.525G>T (p.Gln175His) c.558G>T (p.Gln186His) n.524G>T c.450G>T (p.Gln150His) n.353G>T | |
19 | g.55154054C= | CA2343273723 | TNNI3 | c.525G= (p.Gln175=) c.558G= (p.Gln186=) n.524G= c.450G= (p.Gln150=) n.353G= | |
19 | g.55154054C>G | CA021816 | TNNI3 | c.525G>C (p.Gln175His) c.558G>C (p.Gln186His) n.524G>C c.450G>C (p.Gln150His) n.353G>C | ClinVar dbSNP |
19 | g.55154054C>T | CA508989375 | TNNI3 | c.525G>A (p.Gln175=) c.558G>A (p.Gln186=) n.524G>A c.450G>A (p.Gln150=) n.353G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.55154055T>A | CA407440273 | TNNI3 | c.524A>T (p.Gln175Leu) c.557A>T (p.Gln186Leu) n.523A>T c.449A>T (p.Gln150Leu) n.352A>T | |
19 | g.55154055T>C | CA407440274 | TNNI3 | c.524A>G (p.Gln175Arg) c.557A>G (p.Gln186Arg) n.523A>G c.449A>G (p.Gln150Arg) n.352A>G | ClinVar |
19 | g.55154055T>G | CA407440275 | TNNI3 | c.524A>C (p.Gln175Pro) c.557A>C (p.Gln186Pro) n.523A>C c.449A>C (p.Gln150Pro) n.352A>C | ClinVar |
19 | g.55154056G>A | CA10581187 | TNNI3 | c.523C>T (p.Gln175Ter) c.556C>T (p.Gln186Ter) n.522C>T c.448C>T (p.Gln150Ter) n.351C>T | ClinVar dbSNP |
19 | g.55154056G>C | CA407440276 | TNNI3 | c.523C>G (p.Gln175Glu) c.556C>G (p.Gln186Glu) n.522C>G c.448C>G (p.Gln150Glu) n.351C>G | |
19 | g.55154056G= | CA2343273724 | TNNI3 | c.523C= (p.Gln175=) c.556C= (p.Gln186=) n.522C= c.448C= (p.Gln150=) n.351C= | |
19 | g.55154056G>T | CA407440277 | TNNI3 | c.523C>A (p.Gln175Lys) c.556C>A (p.Gln186Lys) n.522C>A c.448C>A (p.Gln150Lys) n.351C>A | ClinVar dbSNP |
19 | g.55154057C>A | CA407440278 | TNNI3 | c.522G>T (p.Lys174Asn) c.555G>T (p.Lys185Asn) n.521G>T c.447G>T (p.Lys149Asn) n.350G>T | COSMIC |
19 | g.55154057C= | CA2343273725 | TNNI3 | c.522G= (p.Lys174=) c.555G= (p.Lys185=) n.521G= c.447G= (p.Lys149=) n.350G= | |
19 | g.55154057C>G | CA021810 | TNNI3 | c.522G>C (p.Lys174Asn) c.555G>C (p.Lys185Asn) n.521G>C c.447G>C (p.Lys149Asn) n.350G>C | ClinVar dbSNP |
19 | g.55154057C>T | CA508989376 | TNNI3 | c.522G>A (p.Lys174=) c.555G>A (p.Lys185=) n.521G>A c.447G>A (p.Lys149=) n.350G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.55154058T>A | CA407440279 | TNNI3 | c.521A>T (p.Lys174Met) c.554A>T (p.Lys185Met) n.520A>T c.446A>T (p.Lys149Met) n.349A>T | |
19 | g.55154058T>C | CA407440280 | TNNI3 | c.521A>G (p.Lys174Arg) c.554A>G (p.Lys185Arg) n.520A>G c.446A>G (p.Lys149Arg) n.349A>G | |
19 | g.55154058T>G | CA021804 | TNNI3 | c.521A>C (p.Lys174Thr) c.554A>C (p.Lys185Thr) n.520A>C c.446A>C (p.Lys149Thr) n.349A>C | ClinVar dbSNP |
19 | g.55154058T= | CA2343273726 | TNNI3 | c.521A= (p.Lys174=) c.554A= (p.Lys185=) n.520A= c.446A= (p.Lys149=) n.349A= | |
19 | g.55154059T>A | CA407440283 | TNNI3 | c.520A>T (p.Lys174Ter) c.553A>T (p.Lys185Ter) n.519A>T c.445A>T (p.Lys149Ter) n.348A>T | |
19 | g.55154059T>C | CA407440282 | TNNI3 | c.520A>G (p.Lys174Glu) c.553A>G (p.Lys185Glu) n.519A>G c.445A>G (p.Lys149Glu) n.348A>G | |
19 | g.55154059T>G | CA407440281 | TNNI3 | c.520A>C (p.Lys174Gln) c.553A>C (p.Lys185Gln) n.519A>C c.445A>C (p.Lys149Gln) n.348A>C | ClinVar dbSNP |
19 | g.55154059T= | CA2343273727 | TNNI3 | c.520A= (p.Lys174=) c.553A= (p.Lys185=) n.519A= c.445A= (p.Lys149=) n.348A= | |
19 | g.55154060G>A | CA051699 | TNNI3 | c.519C>T (p.Leu173=) c.552C>T (p.Leu184=) n.518C>T c.444C>T (p.Leu148=) n.347C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.55154060G>C | CA508989377 | TNNI3 | c.519C>G (p.Leu173=) c.552C>G (p.Leu184=) n.518C>G c.444C>G (p.Leu148=) n.347C>G | |
19 | g.55154060G= | CA2343273728 | TNNI3 | c.519C= (p.Leu173=) c.552C= (p.Leu184=) n.518C= c.444C= (p.Leu148=) n.347C= | |
19 | g.55154060G>T | CA508989378 | TNNI3 | c.519C>A (p.Leu173=) c.552C>A (p.Leu184=) n.518C>A c.444C>A (p.Leu148=) n.347C>A | gnomAD v4 |
19 | g.55154061A>C | CA407440284 | TNNI3 | c.518T>G (p.Leu173Arg) c.551T>G (p.Leu184Arg) n.517T>G c.443T>G (p.Leu148Arg) n.346T>G | |
19 | g.55154061A>G | CA407440285 | TNNI3 | c.518T>C (p.Leu173Pro) c.551T>C (p.Leu184Pro) n.517T>C c.443T>C (p.Leu148Pro) n.346T>C | |
19 | g.55154061A>T | CA407440286 | TNNI3 | c.518T>A (p.Leu173His) c.551T>A (p.Leu184His) n.517T>A c.443T>A (p.Leu148His) n.346T>A | |
19 | g.55154062G>A | CA407440287 | TNNI3 | c.517C>T (p.Leu173Phe) c.550C>T (p.Leu184Phe) n.516C>T c.442C>T (p.Leu148Phe) n.345C>T | |
19 | g.55154062G>C | CA407440288 | TNNI3 | c.517C>G (p.Leu173Val) c.550C>G (p.Leu184Val) n.516C>G c.442C>G (p.Leu148Val) n.345C>G | |
19 | g.55154062G>T | CA407440289 | TNNI3 | c.517C>A (p.Leu173Ile) c.550C>A (p.Leu184Ile) n.516C>A c.442C>A (p.Leu148Ile) n.345C>A | |
19 | g.55154063G>A | CA051692 | TNNI3 | c.516C>T (p.His172=) c.549C>T (p.His183=) n.515C>T c.441C>T (p.His147=) n.344C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.55154063G>C | CA407440290 | TNNI3 | c.516C>G (p.His172Gln) c.549C>G (p.His183Gln) n.515C>G c.441C>G (p.His147Gln) n.344C>G | |
19 | g.55154063G= | CA2343273729 | TNNI3 | c.516C= (p.His172=) c.549C= (p.His183=) n.515C= c.441C= (p.His147=) n.344C= | |
19 | g.55154063G>T | CA407440291 | TNNI3 | c.516C>A (p.His172Gln) c.549C>A (p.His183Gln) n.515C>A c.441C>A (p.His147Gln) n.344C>A | |
19 | g.55154064T>A | CA407440292 | TNNI3 | c.515A>T (p.His172Leu) c.548A>T (p.His183Leu) n.514A>T c.440A>T (p.His147Leu) n.343A>T | |
19 | g.55154064T>C | CA407440293 | TNNI3 | c.515A>G (p.His172Arg) c.548A>G (p.His183Arg) n.514A>G c.440A>G (p.His147Arg) n.343A>G | |
19 | g.55154064T>G | CA407440294 | TNNI3 | c.515A>C (p.His172Pro) c.548A>C (p.His183Pro) n.514A>C c.440A>C (p.His147Pro) n.343A>C | |
19 | g.55154064_55154094delinsTGGGCCCGCAGGTCCAGGGACTCCTTAGCCC | CA2343273730 | TNNI3 | c.485_515delinsGGGCTAAGGAGTCCCTGGACCTGCGGGCCCA (p.Arg162=) c.518_548delinsGGGCTAAGGAGTCCCTGGACCTGCGGGCCCA (p.Arg173=) n.484_514delinsGGGCTAAGGAGTCCCTGGACCTGCGGGCCCA c.410_440delinsGGGCTAAGGAGTCCCTGGACCTGCGGGCCCA (p.Arg137=) n.313_343delinsGGGCTAAGGAGTCCCTGGACCTGCGGGCCCA | |
19 | g.55154065G>A | CA407440296 | TNNI3 | c.514C>T (p.His172Tyr) c.547C>T (p.His183Tyr) n.513C>T c.439C>T (p.His147Tyr) n.342C>T | ClinVar dbSNP |
19 | g.55154065G>C | CA021797 | TNNI3 | c.514C>G (p.His172Asp) c.547C>G (p.His183Asp) n.513C>G c.439C>G (p.His147Asp) n.342C>G | ClinVar dbSNP |
19 | g.55154065G= | CA2343273731 | TNNI3 | c.514C= (p.His172=) c.547C= (p.His183=) n.513C= c.439C= (p.His147=) n.342C= | |
19 | g.55154065G>T | CA407440295 | TNNI3 | c.514C>A (p.His172Asn) c.547C>A (p.His183Asn) n.513C>A c.439C>A (p.His147Asn) n.342C>A | |
19 | g.55154071_55154100del | CA658658863 | TNNI3 | c.485_514del (p.Arg162_Ala171del) c.518_547del (p.Arg173_Ala182del) n.484_513del c.410_439del (p.Arg137_Ala146del) n.313_342del | ClinVar dbSNP |
19 | g.55154066G>A | CA508989379 | TNNI3 | c.513C>T (p.Ala171=) c.546C>T (p.Ala182=) n.512C>T c.438C>T (p.Ala146=) n.341C>T | gnomAD v4 |
19 | g.55154066G>C | CA508989380 | TNNI3 | c.513C>G (p.Ala171=) c.546C>G (p.Ala182=) n.512C>G c.438C>G (p.Ala146=) n.341C>G | |
19 | g.55154066G>T | CA508989381 | TNNI3 | c.513C>A (p.Ala171=) c.546C>A (p.Ala182=) n.512C>A c.438C>A (p.Ala146=) n.341C>A | |
19 | g.55154067G>A | CA407440297 | TNNI3 | c.512C>T (p.Ala171Val) c.545C>T (p.Ala182Val) n.511C>T c.437C>T (p.Ala146Val) n.340C>T | ClinVar dbSNP gnomAD v4 |
19 | g.55154067G>C | CA407440299 | TNNI3 | c.512C>G (p.Ala171Gly) c.545C>G (p.Ala182Gly) n.511C>G c.437C>G (p.Ala146Gly) n.340C>G | |
19 | g.55154067G= | CA2343273732 | TNNI3 | c.512C= (p.Ala171=) c.545C= (p.Ala182=) n.511C= c.437C= (p.Ala146=) n.340C= | |
19 | g.55154067G>T | CA407440298 | TNNI3 | c.512C>A (p.Ala171Asp) c.545C>A (p.Ala182Asp) n.511C>A c.437C>A (p.Ala146Asp) n.340C>A | gnomAD v4 |
19 | g.55154068C>A | CA407440300 | TNNI3 | c.511G>T (p.Ala171Ser) c.544G>T (p.Ala182Ser) n.510G>T c.436G>T (p.Ala146Ser) n.339G>T | |
19 | g.55154068C= | CA2343273733 | TNNI3 | c.511G= (p.Ala171=) c.544G= (p.Ala182=) n.510G= c.436G= (p.Ala146=) n.339G= | |
19 | g.55154068C>G | CA407440301 | TNNI3 | c.511G>C (p.Ala171Pro) c.544G>C (p.Ala182Pro) n.510G>C c.436G>C (p.Ala146Pro) n.339G>C | |
19 | g.55154068C>T | CA021791 | TNNI3 | c.511G>A (p.Ala171Thr) c.544G>A (p.Ala182Thr) n.510G>A c.436G>A (p.Ala146Thr) n.339G>A | ClinVar dbSNP gnomAD v4 |
19 | g.55154069C>A | CA508989382 | TNNI3 | c.510G>T (p.Arg170=) c.543G>T (p.Arg181=) n.509G>T c.435G>T (p.Arg145=) n.338G>T | |
19 | g.55154069C>G | CA508989383 | TNNI3 | c.510G>C (p.Arg170=) c.543G>C (p.Arg181=) n.509G>C c.435G>C (p.Arg145=) n.338G>C | |
19 | g.55154069C>T | CA508989384 | TNNI3 | c.510G>A (p.Arg170=) c.543G>A (p.Arg181=) n.509G>A c.435G>A (p.Arg145=) n.338G>A | |
19 | g.55154070C>A | CA407440302 | TNNI3 | c.509G>T (p.Arg170Leu) c.542G>T (p.Arg181Leu) n.508G>T c.434G>T (p.Arg145Leu) n.337G>T | |
19 | g.55154070C= | CA2343273734 | TNNI3 | c.509G= (p.Arg170=) c.542G= (p.Arg181=) n.508G= c.434G= (p.Arg145=) n.337G= | |
19 | g.55154070C>G | CA407440303 | TNNI3 | c.509G>C (p.Arg170Pro) c.542G>C (p.Arg181Pro) n.508G>C c.434G>C (p.Arg145Pro) n.337G>C | ClinVar |
19 | g.55154070C>T | CA021784 | TNNI3 | c.509G>A (p.Arg170Gln) c.542G>A (p.Arg181Gln) n.508G>A c.434G>A (p.Arg145Gln) n.337G>A | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.55154071G>A | CA021778 | TNNI3 | c.508C>T (p.Arg170Trp) c.541C>T (p.Arg181Trp) n.507C>T c.433C>T (p.Arg145Trp) n.336C>T | ClinVar dbSNP gnomAD v4 |
19 | g.55154071G>C | CA021769 | TNNI3 | c.508C>G (p.Arg170Gly) c.541C>G (p.Arg181Gly) n.507C>G c.433C>G (p.Arg145Gly) n.336C>G | ClinVar dbSNP |
19 | g.55154071G= | CA2343273735 | TNNI3 | c.508C= (p.Arg170=) c.541C= (p.Arg181=) n.507C= c.433C= (p.Arg145=) n.336C= | |
19 | g.55154071G>T | CA508989385 | TNNI3 | c.508C>A (p.Arg170=) c.541C>A (p.Arg181=) n.507C>A c.433C>A (p.Arg145=) n.336C>A | ClinVar dbSNP gnomAD v4 |
19 | g.55154072C>A | CA508989386 | TNNI3 | c.507G>T (p.Leu169=) c.540G>T (p.Leu180=) n.506G>T c.432G>T (p.Leu144=) n.335G>T | |
19 | g.55154072C= | CA2343273736 | TNNI3 | c.507G= (p.Leu169=) c.540G= (p.Leu180=) n.506G= c.432G= (p.Leu144=) n.335G= | |
19 | g.55154072C>G | CA508989387 | TNNI3 | c.507G>C (p.Leu169=) c.540G>C (p.Leu180=) n.506G>C c.432G>C (p.Leu144=) n.335G>C | |
19 | g.55154072C>T | CA508989388 | TNNI3 | c.507G>A (p.Leu169=) c.540G>A (p.Leu180=) n.506G>A c.432G>A (p.Leu144=) n.335G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.55154073del | CA2695229158 | TNNI3 | c.506del (p.Leu169ArgfsTer8) c.539del (p.Leu180ArgfsTer8) n.505del c.431del (p.Leu144ArgfsTer8) n.334del | |
19 | g.55154073A>C | CA407440304 | TNNI3 | c.506T>G (p.Leu169Arg) c.539T>G (p.Leu180Arg) n.505T>G c.431T>G (p.Leu144Arg) n.334T>G | |
19 | g.55154073A>G | CA407440305 | TNNI3 | c.506T>C (p.Leu169Pro) c.539T>C (p.Leu180Pro) n.505T>C c.431T>C (p.Leu144Pro) n.334T>C | ClinVar dbSNP |
19 | g.55154073A>T | CA407440306 | TNNI3 | c.506T>A (p.Leu169Gln) c.539T>A (p.Leu180Gln) n.505T>A c.431T>A (p.Leu144Gln) n.334T>A | |
19 | g.55154074G>A | CA508989389 | TNNI3 | c.505C>T (p.Leu169=) c.538C>T (p.Leu180=) n.504C>T c.430C>T (p.Leu144=) n.333C>T | |
19 | g.55154074G>C | CA407440307 | TNNI3 | c.505C>G (p.Leu169Val) c.538C>G (p.Leu180Val) n.504C>G c.430C>G (p.Leu144Val) n.333C>G | |
19 | g.55154074G>T | CA407440308 | TNNI3 | c.505C>A (p.Leu169Met) c.538C>A (p.Leu180Met) n.504C>A c.430C>A (p.Leu144Met) n.333C>A | |
19 | g.55154075dup | CA2842832841 | TNNI3 | c.505dup (p.Leu169ProfsTer?) c.538dup (p.Leu180ProfsTer?) n.504dup c.430dup (p.Leu144ProfsTer?) n.333dup | |
19 | g.55154075G>A | CA508989390 | TNNI3 | c.504C>T (p.Asp168=) c.537C>T (p.Asp179=) n.503C>T c.429C>T (p.Asp143=) n.332C>T | gnomAD v4 |
19 | g.55154075G>C | CA407440309 | TNNI3 | c.504C>G (p.Asp168Glu) c.537C>G (p.Asp179Glu) n.503C>G c.429C>G (p.Asp143Glu) n.332C>G | |
19 | g.55154075G= | CA2343273737 | TNNI3 | c.504C= (p.Asp168=) c.537C= (p.Asp179=) n.503C= c.429C= (p.Asp143=) n.332C= | |
19 | g.55154075G>T | CA407440310 | TNNI3 | c.504C>A (p.Asp168Glu) c.537C>A (p.Asp179Glu) n.503C>A c.429C>A (p.Asp143Glu) n.332C>A | dbSNP gnomAD v2 |
19 | g.55154076T>A | CA407440311 | TNNI3 | c.503A>T (p.Asp168Val) c.536A>T (p.Asp179Val) n.502A>T c.428A>T (p.Asp143Val) n.331A>T | |
19 | g.55154076T>C | CA407440312 | TNNI3 | c.503A>G (p.Asp168Gly) c.536A>G (p.Asp179Gly) n.502A>G c.428A>G (p.Asp143Gly) n.331A>G | |
19 | g.55154076T>G | CA407440313 | TNNI3 | c.503A>C (p.Asp168Ala) c.536A>C (p.Asp179Ala) n.502A>C c.428A>C (p.Asp143Ala) n.331A>C | |
19 | g.55154077C>A | CA407440314 | TNNI3 | c.502G>T (p.Asp168Tyr) c.535G>T (p.Asp179Tyr) n.501G>T c.427G>T (p.Asp143Tyr) n.330G>T | ClinVar |
19 | g.55154077C= | CA2343273738 | TNNI3 | c.502G= (p.Asp168=) c.535G= (p.Asp179=) n.501G= c.427G= (p.Asp143=) n.330G= | |
19 | g.55154077C>G | CA407440315 | TNNI3 | c.502G>C (p.Asp168His) c.535G>C (p.Asp179His) n.501G>C c.427G>C (p.Asp143His) n.330G>C | ClinVar dbSNP |
19 | g.55154077C>T | CA407440316 | TNNI3 | c.502G>A (p.Asp168Asn) c.535G>A (p.Asp179Asn) n.501G>A c.427G>A (p.Asp143Asn) n.330G>A | ClinVar dbSNP gnomAD v4 |
19 | g.55154078dup | CA2842832842 | TNNI3 | c.502dup (p.Asp168GlyfsTer?) c.535dup (p.Asp179GlyfsTer?) n.501dup c.427dup (p.Asp143GlyfsTer?) n.330dup | |
19 | g.55154078del | CA2695229159 | TNNI3 | c.502del (p.Asp168ThrfsTer9) c.535del (p.Asp179ThrfsTer9) n.501del c.427del (p.Asp143ThrfsTer9) n.330del | |
19 | g.55154078C>A | CA508989391 | TNNI3 | c.501G>T (p.Leu167=) c.534G>T (p.Leu178=) n.500G>T c.426G>T (p.Leu142=) n.329G>T | |
19 | g.55154078C>G | CA508989392 | TNNI3 | c.501G>C (p.Leu167=) c.534G>C (p.Leu178=) n.500G>C c.426G>C (p.Leu142=) n.329G>C | |
19 | g.55154078C>T | CA508989393 | TNNI3 | c.501G>A (p.Leu167=) c.534G>A (p.Leu178=) n.500G>A c.426G>A (p.Leu142=) n.329G>A | gnomAD v4 |
19 | g.55154079A= | CA2343273739 | TNNI3 | c.500T= (p.Leu167=) c.533T= (p.Leu178=) n.499T= c.425T= (p.Leu142=) n.328T= | |
19 | g.55154079A>C | CA407440317 | TNNI3 | c.500T>G (p.Leu167Arg) c.533T>G (p.Leu178Arg) n.499T>G c.425T>G (p.Leu142Arg) n.328T>G | |
19 | g.55154079A>G | CA407440318 | TNNI3 | c.500T>C (p.Leu167Pro) c.533T>C (p.Leu178Pro) n.499T>C c.425T>C (p.Leu142Pro) n.328T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.55154079A>T | CA407440319 | TNNI3 | c.500T>A (p.Leu167Gln) c.533T>A (p.Leu178Gln) n.499T>A c.425T>A (p.Leu142Gln) n.328T>A | gnomAD v4 |
19 | g.55154080G>A | CA508989394 | TNNI3 | c.499C>T (p.Leu167=) c.532C>T (p.Leu178=) n.498C>T c.424C>T (p.Leu142=) n.327C>T | dbSNP gnomAD v4 |
19 | g.55154080G>C | CA407440321 | TNNI3 | c.499C>G (p.Leu167Val) c.532C>G (p.Leu178Val) n.498C>G c.424C>G (p.Leu142Val) n.327C>G | |
19 | g.55154080G= | CA2343273740 | TNNI3 | c.499C= (p.Leu167=) c.532C= (p.Leu178=) n.498C= c.424C= (p.Leu142=) n.327C= | |
19 | g.55154080G>T | CA407440322 | TNNI3 | c.499C>A (p.Leu167Met) c.532C>A (p.Leu178Met) n.498C>A c.424C>A (p.Leu142Met) n.327C>A | |
19 | g.55154081G>A | CA508989397 | TNNI3 | c.498C>T (p.Ser166=) c.531C>T (p.Ser177=) n.497C>T c.423C>T (p.Ser141=) n.326C>T | COSMIC |
19 | g.55154081G>C | CA508989396 | TNNI3 | c.498C>G (p.Ser166=) c.531C>G (p.Ser177=) n.497C>G c.423C>G (p.Ser141=) n.326C>G | |
19 | g.55154081G>T | CA508989395 | TNNI3 | c.498C>A (p.Ser166=) c.531C>A (p.Ser177=) n.497C>A c.423C>A (p.Ser141=) n.326C>A | |
19 | g.55154082G>A | CA021763 | TNNI3 | c.497C>T (p.Ser166Phe) c.530C>T (p.Ser177Phe) n.496C>T c.422C>T (p.Ser141Phe) n.325C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.55154082G>C | CA407440326 | TNNI3 | c.497C>G (p.Ser166Cys) c.530C>G (p.Ser177Cys) n.496C>G c.422C>G (p.Ser141Cys) n.325C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.55154082G= | CA2343273741 | TNNI3 | c.497C= (p.Ser166=) c.530C= (p.Ser177=) n.496C= c.422C= (p.Ser141=) n.325C= | |
19 | g.55154082G>T | CA407440324 | TNNI3 | c.497C>A (p.Ser166Tyr) c.530C>A (p.Ser177Tyr) n.496C>A c.422C>A (p.Ser141Tyr) n.325C>A | ClinVar |
19 | g.55154083A= | CA2343273742 | TNNI3 | c.496T= (p.Ser166=) c.529T= (p.Ser177=) n.495T= c.421T= (p.Ser141=) n.324T= | |
19 | g.55154083A>C | CA407440327 | TNNI3 | c.496T>G (p.Ser166Ala) c.529T>G (p.Ser177Ala) n.495T>G c.421T>G (p.Ser141Ala) n.324T>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.55154083A>G | CA407440328 | TNNI3 | c.496T>C (p.Ser166Pro) c.529T>C (p.Ser177Pro) n.495T>C c.421T>C (p.Ser141Pro) n.324T>C | ClinVar dbSNP |
19 | g.55154083A>T | CA407440330 | TNNI3 | c.496T>A (p.Ser166Thr) c.529T>A (p.Ser177Thr) n.495T>A c.421T>A (p.Ser141Thr) n.324T>A | |
19 | g.55154084C>A | CA407440331 | TNNI3 | c.495G>T (p.Glu165Asp) c.528G>T (p.Glu176Asp) n.494G>T c.420G>T (p.Glu140Asp) n.323G>T | |
19 | g.55154084C= | CA2343273743 | TNNI3 | c.495G= (p.Glu165=) c.528G= (p.Glu176=) n.494G= c.420G= (p.Glu140=) n.323G= | |
19 | g.55154084C>G | CA407440332 | TNNI3 | c.495G>C (p.Glu165Asp) c.528G>C (p.Glu176Asp) n.494G>C c.420G>C (p.Glu140Asp) n.323G>C | |
19 | g.55154084C>T | CA508989398 | TNNI3 | c.495G>A (p.Glu165=) c.528G>A (p.Glu176=) n.494G>A c.420G>A (p.Glu140=) n.323G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.55154085T>A | CA407440333 | TNNI3 | c.494A>T (p.Glu165Val) c.527A>T (p.Glu176Val) n.493A>T c.419A>T (p.Glu140Val) n.322A>T | |
19 | g.55154085T>C | CA407440334 | TNNI3 | c.494A>G (p.Glu165Gly) c.527A>G (p.Glu176Gly) n.493A>G c.419A>G (p.Glu140Gly) n.322A>G | |
19 | g.55154085T>G | CA407440336 | TNNI3 | c.494A>C (p.Glu165Ala) c.527A>C (p.Glu176Ala) n.493A>C c.419A>C (p.Glu140Ala) n.322A>C | |
19 | g.55154086C>A | CA16608300 | TNNI3 | c.493G>T (p.Glu165Ter) c.526G>T (p.Glu176Ter) n.492G>T c.418G>T (p.Glu140Ter) n.321G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.55154086C= | CA2343273744 | TNNI3 | c.493G= (p.Glu165=) c.526G= (p.Glu176=) n.492G= c.418G= (p.Glu140=) n.321G= | |
19 | g.55154086C>G | CA407440338 | TNNI3 | c.493G>C (p.Glu165Gln) c.526G>C (p.Glu176Gln) n.492G>C c.418G>C (p.Glu140Gln) n.321G>C | ClinVar dbSNP |
19 | g.55154086C>T | CA407440340 | TNNI3 | c.493G>A (p.Glu165Lys) c.526G>A (p.Glu176Lys) n.492G>A c.418G>A (p.Glu140Lys) n.321G>A | |
19 | g.55154087C>A | CA407440341 | TNNI3 | c.492G>T (p.Lys164Asn) c.525G>T (p.Lys175Asn) n.491G>T c.417G>T (p.Lys139Asn) n.320G>T | |
19 | g.55154087C>G | CA407440343 | TNNI3 | c.492G>C (p.Lys164Asn) c.525G>C (p.Lys175Asn) n.491G>C c.417G>C (p.Lys139Asn) n.320G>C | |
19 | g.55154087C>T | CA508989399 | TNNI3 | c.492G>A (p.Lys164=) c.525G>A (p.Lys175=) n.491G>A c.417G>A (p.Lys139=) n.320G>A | |
19 | g.55154088T>A | CA407440346 | TNNI3 | c.491A>T (p.Lys164Met) c.524A>T (p.Lys175Met) n.490A>T c.416A>T (p.Lys139Met) n.319A>T | |
19 | g.55154088T>C | CA407440344 | TNNI3 | c.491A>G (p.Lys164Arg) c.524A>G (p.Lys175Arg) n.490A>G c.416A>G (p.Lys139Arg) n.319A>G | |
19 | g.55154088T>G | CA310148369 | TNNI3 | c.491A>C (p.Lys164Thr) c.524A>C (p.Lys175Thr) n.490A>C c.416A>C (p.Lys139Thr) n.319A>C | dbSNP |
19 | g.55154088T= | CA2343273745 | TNNI3 | c.491A= (p.Lys164=) c.524A= (p.Lys175=) n.490A= c.416A= (p.Lys139=) n.319A= | |
19 | g.55154089T>A | CA407440347 | TNNI3 | c.490A>T (p.Lys164Ter) c.523A>T (p.Lys175Ter) n.489A>T c.415A>T (p.Lys139Ter) n.318A>T | |
19 | g.55154089T>C | CA407440348 | TNNI3 | c.490A>G (p.Lys164Glu) c.523A>G (p.Lys175Glu) n.489A>G c.415A>G (p.Lys139Glu) n.318A>G | ClinVar |
19 | g.55154089T>G | CA407440350 | TNNI3 | c.490A>C (p.Lys164Gln) c.523A>C (p.Lys175Gln) n.489A>C c.415A>C (p.Lys139Gln) n.318A>C | |
19 | g.55154090A= | CA2343273746 | TNNI3 | c.489T= (p.Ala163=) c.522T= (p.Ala174=) n.488T= c.414T= (p.Ala138=) n.317T= | |
19 | g.55154090A>C | CA508989400 | TNNI3 | c.489T>G (p.Ala163=) c.522T>G (p.Ala174=) n.488T>G c.414T>G (p.Ala138=) n.317T>G | |
19 | g.55154090A>G | CA508989401 | TNNI3 | c.489T>C (p.Ala163=) c.522T>C (p.Ala174=) n.488T>C c.414T>C (p.Ala138=) n.317T>C | dbSNP |
19 | g.55154090A>T | CA508989402 | TNNI3 | c.489T>A (p.Ala163=) c.522T>A (p.Ala174=) n.488T>A c.414T>A (p.Ala138=) n.317T>A | |
19 | g.55154091G>A | CA021757 | TNNI3 | c.488C>T (p.Ala163Val) c.521C>T (p.Ala174Val) n.487C>T c.413C>T (p.Ala138Val) n.316C>T | ClinVar dbSNP |
19 | g.55154091G>C | CA407440352 | TNNI3 | c.488C>G (p.Ala163Gly) c.521C>G (p.Ala174Gly) n.487C>G c.413C>G (p.Ala138Gly) n.316C>G | ClinVar dbSNP gnomAD v4 |
19 | g.55154091G= | CA2343273747 | TNNI3 | c.488C= (p.Ala163=) c.521C= (p.Ala174=) n.487C= c.413C= (p.Ala138=) n.316C= | |
19 | g.55154091G>T | CA407440354 | TNNI3 | c.488C>A (p.Ala163Asp) c.521C>A (p.Ala174Asp) n.487C>A c.413C>A (p.Ala138Asp) n.316C>A | COSMIC |
19 | g.55154091_55154092delinsGC | CA2343273748 | TNNI3 | c.487_488delinsGC (p.Ala163=) c.520_521delinsGC (p.Ala174=) n.486_487delinsGC c.412_413delinsGC (p.Ala138=) n.315_316delinsGC | |
19 | g.55154092C>A | CA407440355 | TNNI3 | c.487G>T (p.Ala163Ser) c.520G>T (p.Ala174Ser) n.486G>T c.412G>T (p.Ala138Ser) n.315G>T | |
19 | g.55154092C>G | CA407440357 | TNNI3 | c.487G>C (p.Ala163Pro) c.520G>C (p.Ala174Pro) n.486G>C c.412G>C (p.Ala138Pro) n.315G>C | ClinVar |
19 | g.55154092C>T | CA407440358 | TNNI3 | c.487G>A (p.Ala163Thr) c.520G>A (p.Ala174Thr) n.486G>A c.412G>A (p.Ala138Thr) n.315G>A | gnomAD v4 |
19 | g.55154094dup | CA2587243621 | TNNI3 | c.487dup (p.Ala163GlyfsTer2) c.520dup (p.Ala174GlyfsTer2) n.486dup c.412dup (p.Ala138GlyfsTer2) n.315dup | gnomAD v4 |
19 | g.55154094del | CA915953049 | TNNI3 | c.487del (p.Ala163LeufsTer14) c.520del (p.Ala174LeufsTer14) n.486del c.412del (p.Ala138LeufsTer14) n.315del | ClinVar dbSNP |
19 | g.55154093C>A | CA508989403 | TNNI3 | c.486G>T (p.Arg162=) c.519G>T (p.Arg173=) n.485G>T c.411G>T (p.Arg137=) n.314G>T | |
19 | g.55154093C= | CA2343273749 | TNNI3 | c.486G= (p.Arg162=) c.519G= (p.Arg173=) n.485G= c.411G= (p.Arg137=) n.314G= | |
19 | g.55154093C>G | CA508989404 | TNNI3 | c.486G>C (p.Arg162=) c.519G>C (p.Arg173=) n.485G>C c.411G>C (p.Arg137=) n.314G>C | |
19 | g.55154093C>T | CA508989405 | TNNI3 | c.486G>A (p.Arg162=) c.519G>A (p.Arg173=) n.485G>A c.411G>A (p.Arg137=) n.314G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.55154094C>A | CA407440359 | TNNI3 | c.485G>T (p.Arg162Leu) c.518G>T (p.Arg173Leu) n.484G>T c.410G>T (p.Arg137Leu) n.313G>T | ClinVar dbSNP |
19 | g.55154094C= | CA2343273750 | TNNI3 | c.485G= (p.Arg162=) c.518G= (p.Arg173=) n.484G= c.410G= (p.Arg137=) n.313G= | |
19 | g.55154094C>G | CA021749 | TNNI3 | c.485G>C (p.Arg162Pro) c.518G>C (p.Arg173Pro) n.484G>C c.410G>C (p.Arg137Pro) n.313G>C | ClinVar dbSNP |
19 | g.55154094C>T | CA021744 | TNNI3 | c.485G>A (p.Arg162Gln) c.518G>A (p.Arg173Gln) n.484G>A c.410G>A (p.Arg137Gln) n.313G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.55154095G>A | CA021738 | TNNI3 | c.484C>T (p.Arg162Trp) c.517C>T (p.Arg173Trp) n.483C>T c.409C>T (p.Arg137Trp) n.312C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.55154095G>C | CA407440362 | TNNI3 | c.484C>G (p.Arg162Gly) c.517C>G (p.Arg173Gly) n.483C>G c.409C>G (p.Arg137Gly) n.312C>G | ClinVar dbSNP gnomAD v4 |
19 | g.55154095G= | CA2343273751 | TNNI3 | c.484C= (p.Arg162=) c.517C= (p.Arg173=) n.483C= c.409C= (p.Arg137=) n.312C= | |
19 | g.55154095G>T | CA508989406 | TNNI3 | c.484C>A (p.Arg162=) c.517C>A (p.Arg173=) n.483C>A c.409C>A (p.Arg137=) n.312C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.55154096G>A | CA508989407 | TNNI3 | c.483C>T (p.Ala161=) c.516C>T (p.Ala172=) n.482C>T c.408C>T (p.Ala136=) n.311C>T | |
19 | g.55154096G>C | CA508989408 | TNNI3 | c.483C>G (p.Ala161=) c.516C>G (p.Ala172=) n.482C>G c.408C>G (p.Ala136=) n.311C>G | |
19 | g.55154096G>T | CA508989409 | TNNI3 | c.483C>A (p.Ala161=) c.516C>A (p.Ala172=) n.482C>A c.408C>A (p.Ala136=) n.311C>A | |
19 | g.55154097G>A | CA051664 | TNNI3 | c.482C>T (p.Ala161Val) c.515C>T (p.Ala172Val) n.481C>T c.407C>T (p.Ala136Val) n.310C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.55154097G>C | CA407440366 | TNNI3 | c.482C>G (p.Ala161Gly) c.515C>G (p.Ala172Gly) n.481C>G c.407C>G (p.Ala136Gly) n.310C>G | |
19 | g.55154097G= | CA2343273752 | TNNI3 | c.482C= (p.Ala161=) c.515C= (p.Ala172=) n.481C= c.407C= (p.Ala136=) n.310C= | |
19 | g.55154097G>T | CA407440365 | TNNI3 | c.482C>A (p.Ala161Asp) c.515C>A (p.Ala172Asp) n.481C>A c.407C>A (p.Ala136Asp) n.310C>A | |
19 | g.55154097_55154098delinsGC | CA2343273753 | TNNI3 | c.481_482delinsGC (p.Ala161=) c.514_515delinsGC (p.Ala172=) n.480_481delinsGC c.406_407delinsGC (p.Ala136=) n.309_310delinsGC | |
19 | g.55154098C>A | CA407440368 | TNNI3 | c.481G>T (p.Ala161Ser) c.514G>T (p.Ala172Ser) n.480G>T c.406G>T (p.Ala136Ser) n.309G>T | |
19 | g.55154098C= | CA2343273755 | TNNI3 | c.481G= (p.Ala161=) c.514G= (p.Ala172=) n.480G= c.406G= (p.Ala136=) n.309G= | |
19 | g.55154098C>G | CA407440371 | TNNI3 | c.481G>C (p.Ala161Pro) c.514G>C (p.Ala172Pro) n.480G>C c.406G>C (p.Ala136Pro) n.309G>C | ClinVar |
19 | g.55154098C>T | CA407440369 | TNNI3 | c.481G>A (p.Ala161Thr) c.514G>A (p.Ala172Thr) n.480G>A c.406G>A (p.Ala136Thr) n.309G>A | dbSNP gnomAD v4 |
19 | g.55154102dup | CA633906546 | TNNI3 | c.481dup (p.Ala161GlyfsTer4) c.514dup (p.Ala172GlyfsTer4) n.480dup c.406dup (p.Ala136GlyfsTer4) n.309dup | dbSNP gnomAD v2 gnomAD v4 |
19 | g.55154102del | CA2343273754 | TNNI3 | c.481del (p.Ala161ProfsTer16) c.514del (p.Ala172ProfsTer16) n.480del c.406del (p.Ala136ProfsTer16) n.309del | ClinVar dbSNP |
19 | g.55154099C>A | CA508989410 | TNNI3 | c.480G>T (p.Gly160=) c.513G>T (p.Gly171=) n.479G>T c.405G>T (p.Gly135=) n.308G>T | gnomAD v4 |
19 | g.55154099C>G | CA508989411 | TNNI3 | c.480G>C (p.Gly160=) c.513G>C (p.Gly171=) n.479G>C c.405G>C (p.Gly135=) n.308G>C | gnomAD v4 |
19 | g.55154099C>T | CA508989412 | TNNI3 | c.480G>A (p.Gly160=) c.513G>A (p.Gly171=) n.479G>A c.405G>A (p.Gly135=) n.308G>A |