Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178530494A= | CA1310514685 | TTN,TTN-AS1 | c.98417T= (p.Phe32806=) c.79502T= (p.Phe26501=) c.79301T= (p.Phe26434=) c.78926T= (p.Phe26309=) c.106121T= (p.Phe35374=) c.101198T= (p.Phe33733=) n.446+6858A= n.220-5238A= c.105218T= (p.Phe35073=) c.79112T= (p.Phe26371=) c.78971T= (p.Phe26324=) c.105014T= (p.Phe35005=) c.100412T= (p.Phe33471=) c.100409T= (p.Phe33470=) c.97451T= (p.Phe32484=) c.79067T= (p.Phe26356=) c.100562T= (p.Phe33521=) c.100559T= (p.Phe33520=) c.99992T= (p.Phe33331=) c.97334T= (p.Phe32445=) c.97253T= (p.Phe32418=) c.79016T= (p.Phe26339=) c.68870T= (p.Phe22957=) | |
2 | g.178530494A>C | CA349406989 | TTN,TTN-AS1 | c.98417T>G (p.Phe32806Cys) c.79502T>G (p.Phe26501Cys) c.79301T>G (p.Phe26434Cys) c.78926T>G (p.Phe26309Cys) c.106121T>G (p.Phe35374Cys) c.101198T>G (p.Phe33733Cys) n.446+6858A>C n.220-5238A>C c.105218T>G (p.Phe35073Cys) c.79112T>G (p.Phe26371Cys) c.78971T>G (p.Phe26324Cys) c.105014T>G (p.Phe35005Cys) c.100412T>G (p.Phe33471Cys) c.100409T>G (p.Phe33470Cys) c.97451T>G (p.Phe32484Cys) c.79067T>G (p.Phe26356Cys) c.100562T>G (p.Phe33521Cys) c.100559T>G (p.Phe33520Cys) c.99992T>G (p.Phe33331Cys) c.97334T>G (p.Phe32445Cys) c.97253T>G (p.Phe32418Cys) c.79016T>G (p.Phe26339Cys) c.68870T>G (p.Phe22957Cys) | |
2 | g.178530494A>G | CA349406990 | TTN,TTN-AS1 | c.98417T>C (p.Phe32806Ser) c.79502T>C (p.Phe26501Ser) c.79301T>C (p.Phe26434Ser) c.78926T>C (p.Phe26309Ser) c.106121T>C (p.Phe35374Ser) c.101198T>C (p.Phe33733Ser) n.446+6858A>G n.220-5238A>G c.105218T>C (p.Phe35073Ser) c.79112T>C (p.Phe26371Ser) c.78971T>C (p.Phe26324Ser) c.105014T>C (p.Phe35005Ser) c.100412T>C (p.Phe33471Ser) c.100409T>C (p.Phe33470Ser) c.97451T>C (p.Phe32484Ser) c.79067T>C (p.Phe26356Ser) c.100562T>C (p.Phe33521Ser) c.100559T>C (p.Phe33520Ser) c.99992T>C (p.Phe33331Ser) c.97334T>C (p.Phe32445Ser) c.97253T>C (p.Phe32418Ser) c.79016T>C (p.Phe26339Ser) c.68870T>C (p.Phe22957Ser) | |
2 | g.178530494A>T | CA183679 | TTN,TTN-AS1 | c.98417T>A (p.Phe32806Tyr) c.79502T>A (p.Phe26501Tyr) c.79301T>A (p.Phe26434Tyr) c.78926T>A (p.Phe26309Tyr) c.106121T>A (p.Phe35374Tyr) c.101198T>A (p.Phe33733Tyr) n.446+6858A>T n.220-5238A>T c.105218T>A (p.Phe35073Tyr) c.79112T>A (p.Phe26371Tyr) c.78971T>A (p.Phe26324Tyr) c.105014T>A (p.Phe35005Tyr) c.100412T>A (p.Phe33471Tyr) c.100409T>A (p.Phe33470Tyr) c.97451T>A (p.Phe32484Tyr) c.79067T>A (p.Phe26356Tyr) c.100562T>A (p.Phe33521Tyr) c.100559T>A (p.Phe33520Tyr) c.99992T>A (p.Phe33331Tyr) c.97334T>A (p.Phe32445Tyr) c.97253T>A (p.Phe32418Tyr) c.79016T>A (p.Phe26339Tyr) c.68870T>A (p.Phe22957Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530495A= | CA1310514687 | TTN,TTN-AS1 | c.98416T= (p.Phe32806=) c.79501T= (p.Phe26501=) c.79300T= (p.Phe26434=) c.78925T= (p.Phe26309=) c.106120T= (p.Phe35374=) c.101197T= (p.Phe33733=) n.446+6859A= n.220-5237A= c.105217T= (p.Phe35073=) c.79111T= (p.Phe26371=) c.78970T= (p.Phe26324=) c.105013T= (p.Phe35005=) c.100411T= (p.Phe33471=) c.100408T= (p.Phe33470=) c.97450T= (p.Phe32484=) c.79066T= (p.Phe26356=) c.100561T= (p.Phe33521=) c.100558T= (p.Phe33520=) c.99991T= (p.Phe33331=) c.97333T= (p.Phe32445=) c.97252T= (p.Phe32418=) c.79015T= (p.Phe26339=) c.68869T= (p.Phe22957=) | |
2 | g.178530495A>C | CA349406991 | TTN,TTN-AS1 | c.98416T>G (p.Phe32806Val) c.79501T>G (p.Phe26501Val) c.79300T>G (p.Phe26434Val) c.78925T>G (p.Phe26309Val) c.106120T>G (p.Phe35374Val) c.101197T>G (p.Phe33733Val) n.446+6859A>C n.220-5237A>C c.105217T>G (p.Phe35073Val) c.79111T>G (p.Phe26371Val) c.78970T>G (p.Phe26324Val) c.105013T>G (p.Phe35005Val) c.100411T>G (p.Phe33471Val) c.100408T>G (p.Phe33470Val) c.97450T>G (p.Phe32484Val) c.79066T>G (p.Phe26356Val) c.100561T>G (p.Phe33521Val) c.100558T>G (p.Phe33520Val) c.99991T>G (p.Phe33331Val) c.97333T>G (p.Phe32445Val) c.97252T>G (p.Phe32418Val) c.79015T>G (p.Phe26339Val) c.68869T>G (p.Phe22957Val) | |
2 | g.178530495A>G | CA349406992 | TTN,TTN-AS1 | c.98416T>C (p.Phe32806Leu) c.79501T>C (p.Phe26501Leu) c.79300T>C (p.Phe26434Leu) c.78925T>C (p.Phe26309Leu) c.106120T>C (p.Phe35374Leu) c.101197T>C (p.Phe33733Leu) n.446+6859A>G n.220-5237A>G c.105217T>C (p.Phe35073Leu) c.79111T>C (p.Phe26371Leu) c.78970T>C (p.Phe26324Leu) c.105013T>C (p.Phe35005Leu) c.100411T>C (p.Phe33471Leu) c.100408T>C (p.Phe33470Leu) c.97450T>C (p.Phe32484Leu) c.79066T>C (p.Phe26356Leu) c.100561T>C (p.Phe33521Leu) c.100558T>C (p.Phe33520Leu) c.99991T>C (p.Phe33331Leu) c.97333T>C (p.Phe32445Leu) c.97252T>C (p.Phe32418Leu) c.79015T>C (p.Phe26339Leu) c.68869T>C (p.Phe22957Leu) | |
2 | g.178530495A>T | CA238441 | TTN,TTN-AS1 | c.98416T>A (p.Phe32806Ile) c.79501T>A (p.Phe26501Ile) c.79300T>A (p.Phe26434Ile) c.78925T>A (p.Phe26309Ile) c.106120T>A (p.Phe35374Ile) c.101197T>A (p.Phe33733Ile) n.446+6859A>T n.220-5237A>T c.105217T>A (p.Phe35073Ile) c.79111T>A (p.Phe26371Ile) c.78970T>A (p.Phe26324Ile) c.105013T>A (p.Phe35005Ile) c.100411T>A (p.Phe33471Ile) c.100408T>A (p.Phe33470Ile) c.97450T>A (p.Phe32484Ile) c.79066T>A (p.Phe26356Ile) c.100561T>A (p.Phe33521Ile) c.100558T>A (p.Phe33520Ile) c.99991T>A (p.Phe33331Ile) c.97333T>A (p.Phe32445Ile) c.97252T>A (p.Phe32418Ile) c.79015T>A (p.Phe26339Ile) c.68869T>A (p.Phe22957Ile) | ClinVar dbSNP |
2 | g.178530496T>A | CA349406993 | TTN,TTN-AS1 | c.98415A>T (p.Gln32805His) c.79500A>T (p.Gln26500His) c.79299A>T (p.Gln26433His) c.78924A>T (p.Gln26308His) c.106119A>T (p.Gln35373His) c.101196A>T (p.Gln33732His) n.446+6860T>A n.220-5236T>A c.105216A>T (p.Gln35072His) c.79110A>T (p.Gln26370His) c.78969A>T (p.Gln26323His) c.105012A>T (p.Gln35004His) c.100410A>T (p.Gln33470His) c.100407A>T (p.Gln33469His) c.97449A>T (p.Gln32483His) c.79065A>T (p.Gln26355His) c.100560A>T (p.Gln33520His) c.100557A>T (p.Gln33519His) c.99990A>T (p.Gln33330His) c.97332A>T (p.Gln32444His) c.97251A>T (p.Gln32417His) c.79014A>T (p.Gln26338His) c.68868A>T (p.Gln22956His) | |
2 | g.178530496T>C | CA430235089 | TTN,TTN-AS1 | c.98415A>G (p.Gln32805=) c.79500A>G (p.Gln26500=) c.79299A>G (p.Gln26433=) c.78924A>G (p.Gln26308=) c.106119A>G (p.Gln35373=) c.101196A>G (p.Gln33732=) n.446+6860T>C n.220-5236T>C c.105216A>G (p.Gln35072=) c.79110A>G (p.Gln26370=) c.78969A>G (p.Gln26323=) c.105012A>G (p.Gln35004=) c.100410A>G (p.Gln33470=) c.100407A>G (p.Gln33469=) c.97449A>G (p.Gln32483=) c.79065A>G (p.Gln26355=) c.100560A>G (p.Gln33520=) c.100557A>G (p.Gln33519=) c.99990A>G (p.Gln33330=) c.97332A>G (p.Gln32444=) c.97251A>G (p.Gln32417=) c.79014A>G (p.Gln26338=) c.68868A>G (p.Gln22956=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530496T>G | CA349406994 | TTN,TTN-AS1 | c.98415A>C (p.Gln32805His) c.79500A>C (p.Gln26500His) c.79299A>C (p.Gln26433His) c.78924A>C (p.Gln26308His) c.106119A>C (p.Gln35373His) c.101196A>C (p.Gln33732His) n.446+6860T>G n.220-5236T>G c.105216A>C (p.Gln35072His) c.79110A>C (p.Gln26370His) c.78969A>C (p.Gln26323His) c.105012A>C (p.Gln35004His) c.100410A>C (p.Gln33470His) c.100407A>C (p.Gln33469His) c.97449A>C (p.Gln32483His) c.79065A>C (p.Gln26355His) c.100560A>C (p.Gln33520His) c.100557A>C (p.Gln33519His) c.99990A>C (p.Gln33330His) c.97332A>C (p.Gln32444His) c.97251A>C (p.Gln32417His) c.79014A>C (p.Gln26338His) c.68868A>C (p.Gln22956His) | |
2 | g.178530496T= | CA1310514689 | TTN,TTN-AS1 | c.98415A= (p.Gln32805=) c.79500A= (p.Gln26500=) c.79299A= (p.Gln26433=) c.78924A= (p.Gln26308=) c.106119A= (p.Gln35373=) c.101196A= (p.Gln33732=) n.446+6860T= n.220-5236T= c.105216A= (p.Gln35072=) c.79110A= (p.Gln26370=) c.78969A= (p.Gln26323=) c.105012A= (p.Gln35004=) c.100410A= (p.Gln33470=) c.100407A= (p.Gln33469=) c.97449A= (p.Gln32483=) c.79065A= (p.Gln26355=) c.100560A= (p.Gln33520=) c.100557A= (p.Gln33519=) c.99990A= (p.Gln33330=) c.97332A= (p.Gln32444=) c.97251A= (p.Gln32417=) c.79014A= (p.Gln26338=) c.68868A= (p.Gln22956=) | |
2 | g.178530497T>A | CA349406995 | TTN,TTN-AS1 | c.98414A>T (p.Gln32805Leu) c.79499A>T (p.Gln26500Leu) c.79298A>T (p.Gln26433Leu) c.78923A>T (p.Gln26308Leu) c.106118A>T (p.Gln35373Leu) c.101195A>T (p.Gln33732Leu) n.446+6861T>A n.220-5235T>A c.105215A>T (p.Gln35072Leu) c.79109A>T (p.Gln26370Leu) c.78968A>T (p.Gln26323Leu) c.105011A>T (p.Gln35004Leu) c.100409A>T (p.Gln33470Leu) c.100406A>T (p.Gln33469Leu) c.97448A>T (p.Gln32483Leu) c.79064A>T (p.Gln26355Leu) c.100559A>T (p.Gln33520Leu) c.100556A>T (p.Gln33519Leu) c.99989A>T (p.Gln33330Leu) c.97331A>T (p.Gln32444Leu) c.97250A>T (p.Gln32417Leu) c.79013A>T (p.Gln26338Leu) c.68867A>T (p.Gln22956Leu) | |
2 | g.178530497T>C | CA349406996 | TTN,TTN-AS1 | c.98414A>G (p.Gln32805Arg) c.79499A>G (p.Gln26500Arg) c.79298A>G (p.Gln26433Arg) c.78923A>G (p.Gln26308Arg) c.106118A>G (p.Gln35373Arg) c.101195A>G (p.Gln33732Arg) n.446+6861T>C n.220-5235T>C c.105215A>G (p.Gln35072Arg) c.79109A>G (p.Gln26370Arg) c.78968A>G (p.Gln26323Arg) c.105011A>G (p.Gln35004Arg) c.100409A>G (p.Gln33470Arg) c.100406A>G (p.Gln33469Arg) c.97448A>G (p.Gln32483Arg) c.79064A>G (p.Gln26355Arg) c.100559A>G (p.Gln33520Arg) c.100556A>G (p.Gln33519Arg) c.99989A>G (p.Gln33330Arg) c.97331A>G (p.Gln32444Arg) c.97250A>G (p.Gln32417Arg) c.79013A>G (p.Gln26338Arg) c.68867A>G (p.Gln22956Arg) | |
2 | g.178530497T>G | CA349406997 | TTN,TTN-AS1 | c.98414A>C (p.Gln32805Pro) c.79499A>C (p.Gln26500Pro) c.79298A>C (p.Gln26433Pro) c.78923A>C (p.Gln26308Pro) c.106118A>C (p.Gln35373Pro) c.101195A>C (p.Gln33732Pro) n.446+6861T>G n.220-5235T>G c.105215A>C (p.Gln35072Pro) c.79109A>C (p.Gln26370Pro) c.78968A>C (p.Gln26323Pro) c.105011A>C (p.Gln35004Pro) c.100409A>C (p.Gln33470Pro) c.100406A>C (p.Gln33469Pro) c.97448A>C (p.Gln32483Pro) c.79064A>C (p.Gln26355Pro) c.100559A>C (p.Gln33520Pro) c.100556A>C (p.Gln33519Pro) c.99989A>C (p.Gln33330Pro) c.97331A>C (p.Gln32444Pro) c.97250A>C (p.Gln32417Pro) c.79013A>C (p.Gln26338Pro) c.68867A>C (p.Gln22956Pro) | |
2 | g.178530498G>A | CA349406998 | TTN,TTN-AS1 | c.98413C>T (p.Gln32805Ter) c.79498C>T (p.Gln26500Ter) c.79297C>T (p.Gln26433Ter) c.78922C>T (p.Gln26308Ter) c.106117C>T (p.Gln35373Ter) c.101194C>T (p.Gln33732Ter) n.446+6862G>A n.220-5234G>A c.105214C>T (p.Gln35072Ter) c.79108C>T (p.Gln26370Ter) c.78967C>T (p.Gln26323Ter) c.105010C>T (p.Gln35004Ter) c.100408C>T (p.Gln33470Ter) c.100405C>T (p.Gln33469Ter) c.97447C>T (p.Gln32483Ter) c.79063C>T (p.Gln26355Ter) c.100558C>T (p.Gln33520Ter) c.100555C>T (p.Gln33519Ter) c.99988C>T (p.Gln33330Ter) c.97330C>T (p.Gln32444Ter) c.97249C>T (p.Gln32417Ter) c.79012C>T (p.Gln26338Ter) c.68866C>T (p.Gln22956Ter) | ClinVar dbSNP |
2 | g.178530498G>C | CA349406999 | TTN,TTN-AS1 | c.98413C>G (p.Gln32805Glu) c.79498C>G (p.Gln26500Glu) c.79297C>G (p.Gln26433Glu) c.78922C>G (p.Gln26308Glu) c.106117C>G (p.Gln35373Glu) c.101194C>G (p.Gln33732Glu) n.446+6862G>C n.220-5234G>C c.105214C>G (p.Gln35072Glu) c.79108C>G (p.Gln26370Glu) c.78967C>G (p.Gln26323Glu) c.105010C>G (p.Gln35004Glu) c.100408C>G (p.Gln33470Glu) c.100405C>G (p.Gln33469Glu) c.97447C>G (p.Gln32483Glu) c.79063C>G (p.Gln26355Glu) c.100558C>G (p.Gln33520Glu) c.100555C>G (p.Gln33519Glu) c.99988C>G (p.Gln33330Glu) c.97330C>G (p.Gln32444Glu) c.97249C>G (p.Gln32417Glu) c.79012C>G (p.Gln26338Glu) c.68866C>G (p.Gln22956Glu) | |
2 | g.178530498G= | CA1310514691 | TTN,TTN-AS1 | c.98413C= (p.Gln32805=) c.79498C= (p.Gln26500=) c.79297C= (p.Gln26433=) c.78922C= (p.Gln26308=) c.106117C= (p.Gln35373=) c.101194C= (p.Gln33732=) n.446+6862G= n.220-5234G= c.105214C= (p.Gln35072=) c.79108C= (p.Gln26370=) c.78967C= (p.Gln26323=) c.105010C= (p.Gln35004=) c.100408C= (p.Gln33470=) c.100405C= (p.Gln33469=) c.97447C= (p.Gln32483=) c.79063C= (p.Gln26355=) c.100558C= (p.Gln33520=) c.100555C= (p.Gln33519=) c.99988C= (p.Gln33330=) c.97330C= (p.Gln32444=) c.97249C= (p.Gln32417=) c.79012C= (p.Gln26338=) c.68866C= (p.Gln22956=) | |
2 | g.178530498G>T | CA1985163 | TTN,TTN-AS1 | c.98413C>A (p.Gln32805Lys) c.79498C>A (p.Gln26500Lys) c.79297C>A (p.Gln26433Lys) c.78922C>A (p.Gln26308Lys) c.106117C>A (p.Gln35373Lys) c.101194C>A (p.Gln33732Lys) n.446+6862G>T n.220-5234G>T c.105214C>A (p.Gln35072Lys) c.79108C>A (p.Gln26370Lys) c.78967C>A (p.Gln26323Lys) c.105010C>A (p.Gln35004Lys) c.100408C>A (p.Gln33470Lys) c.100405C>A (p.Gln33469Lys) c.97447C>A (p.Gln32483Lys) c.79063C>A (p.Gln26355Lys) c.100558C>A (p.Gln33520Lys) c.100555C>A (p.Gln33519Lys) c.99988C>A (p.Gln33330Lys) c.97330C>A (p.Gln32444Lys) c.97249C>A (p.Gln32417Lys) c.79012C>A (p.Gln26338Lys) c.68866C>A (p.Gln22956Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530499T>A | CA349407000 | TTN,TTN-AS1 | c.98412A>T (p.Leu32804Phe) c.79497A>T (p.Leu26499Phe) c.79296A>T (p.Leu26432Phe) c.78921A>T (p.Leu26307Phe) c.106116A>T (p.Leu35372Phe) c.101193A>T (p.Leu33731Phe) n.446+6863T>A n.220-5233T>A c.105213A>T (p.Leu35071Phe) c.79107A>T (p.Leu26369Phe) c.78966A>T (p.Leu26322Phe) c.105009A>T (p.Leu35003Phe) c.100407A>T (p.Leu33469Phe) c.100404A>T (p.Leu33468Phe) c.97446A>T (p.Leu32482Phe) c.79062A>T (p.Leu26354Phe) c.100557A>T (p.Leu33519Phe) c.100554A>T (p.Leu33518Phe) c.99987A>T (p.Leu33329Phe) c.97329A>T (p.Leu32443Phe) c.97248A>T (p.Leu32416Phe) c.79011A>T (p.Leu26337Phe) c.68865A>T (p.Leu22955Phe) | |
2 | g.178530499T>C | CA430235092 | TTN,TTN-AS1 | c.98412A>G (p.Leu32804=) c.79497A>G (p.Leu26499=) c.79296A>G (p.Leu26432=) c.78921A>G (p.Leu26307=) c.106116A>G (p.Leu35372=) c.101193A>G (p.Leu33731=) n.446+6863T>C n.220-5233T>C c.105213A>G (p.Leu35071=) c.79107A>G (p.Leu26369=) c.78966A>G (p.Leu26322=) c.105009A>G (p.Leu35003=) c.100407A>G (p.Leu33469=) c.100404A>G (p.Leu33468=) c.97446A>G (p.Leu32482=) c.79062A>G (p.Leu26354=) c.100557A>G (p.Leu33519=) c.100554A>G (p.Leu33518=) c.99987A>G (p.Leu33329=) c.97329A>G (p.Leu32443=) c.97248A>G (p.Leu32416=) c.79011A>G (p.Leu26337=) c.68865A>G (p.Leu22955=) | |
2 | g.178530499T>G | CA349407001 | TTN,TTN-AS1 | c.98412A>C (p.Leu32804Phe) c.79497A>C (p.Leu26499Phe) c.79296A>C (p.Leu26432Phe) c.78921A>C (p.Leu26307Phe) c.106116A>C (p.Leu35372Phe) c.101193A>C (p.Leu33731Phe) n.446+6863T>G n.220-5233T>G c.105213A>C (p.Leu35071Phe) c.79107A>C (p.Leu26369Phe) c.78966A>C (p.Leu26322Phe) c.105009A>C (p.Leu35003Phe) c.100407A>C (p.Leu33469Phe) c.100404A>C (p.Leu33468Phe) c.97446A>C (p.Leu32482Phe) c.79062A>C (p.Leu26354Phe) c.100557A>C (p.Leu33519Phe) c.100554A>C (p.Leu33518Phe) c.99987A>C (p.Leu33329Phe) c.97329A>C (p.Leu32443Phe) c.97248A>C (p.Leu32416Phe) c.79011A>C (p.Leu26337Phe) c.68865A>C (p.Leu22955Phe) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530499T= | CA1310514693 | TTN,TTN-AS1 | c.98412A= (p.Leu32804=) c.79497A= (p.Leu26499=) c.79296A= (p.Leu26432=) c.78921A= (p.Leu26307=) c.106116A= (p.Leu35372=) c.101193A= (p.Leu33731=) n.446+6863T= n.220-5233T= c.105213A= (p.Leu35071=) c.79107A= (p.Leu26369=) c.78966A= (p.Leu26322=) c.105009A= (p.Leu35003=) c.100407A= (p.Leu33469=) c.100404A= (p.Leu33468=) c.97446A= (p.Leu32482=) c.79062A= (p.Leu26354=) c.100557A= (p.Leu33519=) c.100554A= (p.Leu33518=) c.99987A= (p.Leu33329=) c.97329A= (p.Leu32443=) c.97248A= (p.Leu32416=) c.79011A= (p.Leu26337=) c.68865A= (p.Leu22955=) | |
2 | g.178530499_178530500insTT | CA2586970739 | TTN,TTN-AS1 | c.98412_98413insAA (p.Gln32805AsnfsTer?) c.79497_79498insAA (p.Gln26500AsnfsTer?) c.79296_79297insAA (p.Gln26433AsnfsTer?) c.78921_78922insAA (p.Gln26308AsnfsTer?) c.106116_106117insAA (p.Gln35373AsnfsTer?) c.101193_101194insAA (p.Gln33732AsnfsTer?) n.446+6863_446+6864insTT n.220-5233_220-5232insTT c.105213_105214insAA (p.Gln35072AsnfsTer?) c.79107_79108insAA (p.Gln26370AsnfsTer?) c.78966_78967insAA (p.Gln26323AsnfsTer?) c.105009_105010insAA (p.Gln35004AsnfsTer?) c.100407_100408insAA (p.Gln33470AsnfsTer?) c.100404_100405insAA (p.Gln33469AsnfsTer?) c.97446_97447insAA (p.Gln32483AsnfsTer?) c.79062_79063insAA (p.Gln26355AsnfsTer?) c.100557_100558insAA (p.Gln33520AsnfsTer?) c.100554_100555insAA (p.Gln33519AsnfsTer?) c.99987_99988insAA (p.Gln33330AsnfsTer?) c.97329_97330insAA (p.Gln32444AsnfsTer?) c.97248_97249insAA (p.Gln32417AsnfsTer?) c.79011_79012insAA (p.Gln26338AsnfsTer?) c.68865_68866insAA (p.Gln22956AsnfsTer?) | |
2 | g.178530500A>C | CA349407004 | TTN,TTN-AS1 | c.98411T>G (p.Leu32804Ter) c.79496T>G (p.Leu26499Ter) c.79295T>G (p.Leu26432Ter) c.78920T>G (p.Leu26307Ter) c.106115T>G (p.Leu35372Ter) c.101192T>G (p.Leu33731Ter) n.446+6864A>C n.220-5232A>C c.105212T>G (p.Leu35071Ter) c.79106T>G (p.Leu26369Ter) c.78965T>G (p.Leu26322Ter) c.105008T>G (p.Leu35003Ter) c.100406T>G (p.Leu33469Ter) c.100403T>G (p.Leu33468Ter) c.97445T>G (p.Leu32482Ter) c.79061T>G (p.Leu26354Ter) c.100556T>G (p.Leu33519Ter) c.100553T>G (p.Leu33518Ter) c.99986T>G (p.Leu33329Ter) c.97328T>G (p.Leu32443Ter) c.97247T>G (p.Leu32416Ter) c.79010T>G (p.Leu26337Ter) c.68864T>G (p.Leu22955Ter) | |
2 | g.178530500A>G | CA349407003 | TTN,TTN-AS1 | c.98411T>C (p.Leu32804Ser) c.79496T>C (p.Leu26499Ser) c.79295T>C (p.Leu26432Ser) c.78920T>C (p.Leu26307Ser) c.106115T>C (p.Leu35372Ser) c.101192T>C (p.Leu33731Ser) n.446+6864A>G n.220-5232A>G c.105212T>C (p.Leu35071Ser) c.79106T>C (p.Leu26369Ser) c.78965T>C (p.Leu26322Ser) c.105008T>C (p.Leu35003Ser) c.100406T>C (p.Leu33469Ser) c.100403T>C (p.Leu33468Ser) c.97445T>C (p.Leu32482Ser) c.79061T>C (p.Leu26354Ser) c.100556T>C (p.Leu33519Ser) c.100553T>C (p.Leu33518Ser) c.99986T>C (p.Leu33329Ser) c.97328T>C (p.Leu32443Ser) c.97247T>C (p.Leu32416Ser) c.79010T>C (p.Leu26337Ser) c.68864T>C (p.Leu22955Ser) | |
2 | g.178530500A>T | CA349407002 | TTN,TTN-AS1 | c.98411T>A (p.Leu32804Ter) c.79496T>A (p.Leu26499Ter) c.79295T>A (p.Leu26432Ter) c.78920T>A (p.Leu26307Ter) c.106115T>A (p.Leu35372Ter) c.101192T>A (p.Leu33731Ter) n.446+6864A>T n.220-5232A>T c.105212T>A (p.Leu35071Ter) c.79106T>A (p.Leu26369Ter) c.78965T>A (p.Leu26322Ter) c.105008T>A (p.Leu35003Ter) c.100406T>A (p.Leu33469Ter) c.100403T>A (p.Leu33468Ter) c.97445T>A (p.Leu32482Ter) c.79061T>A (p.Leu26354Ter) c.100556T>A (p.Leu33519Ter) c.100553T>A (p.Leu33518Ter) c.99986T>A (p.Leu33329Ter) c.97328T>A (p.Leu32443Ter) c.97247T>A (p.Leu32416Ter) c.79010T>A (p.Leu26337Ter) c.68864T>A (p.Leu22955Ter) | |
2 | g.178530500_178530501dup | CA761284672 | TTN,TTN-AS1 | c.98410_98411dup (p.Leu32804PhefsTer?) c.79495_79496dup (p.Leu26499PhefsTer?) c.79294_79295dup (p.Leu26432PhefsTer?) c.78919_78920dup (p.Leu26307PhefsTer?) c.106114_106115dup (p.Leu35372PhefsTer?) c.101191_101192dup (p.Leu33731PhefsTer?) n.446+6864_446+6865dup n.220-5232_220-5231dup c.105211_105212dup (p.Leu35071PhefsTer?) c.79105_79106dup (p.Leu26369PhefsTer?) c.78964_78965dup (p.Leu26322PhefsTer?) c.105007_105008dup (p.Leu35003PhefsTer?) c.100405_100406dup (p.Leu33469PhefsTer?) c.100402_100403dup (p.Leu33468PhefsTer?) c.97444_97445dup (p.Leu32482PhefsTer?) c.79060_79061dup (p.Leu26354PhefsTer?) c.100555_100556dup (p.Leu33519PhefsTer?) c.100552_100553dup (p.Leu33518PhefsTer?) c.99985_99986dup (p.Leu33329PhefsTer?) c.97327_97328dup (p.Leu32443PhefsTer?) c.97246_97247dup (p.Leu32416PhefsTer?) c.79009_79010dup (p.Leu26337PhefsTer?) c.68863_68864dup (p.Leu22955PhefsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530501A>C | CA349407005 | TTN,TTN-AS1 | c.98410T>G (p.Leu32804Val) c.79495T>G (p.Leu26499Val) c.79294T>G (p.Leu26432Val) c.78919T>G (p.Leu26307Val) c.106114T>G (p.Leu35372Val) c.101191T>G (p.Leu33731Val) n.446+6865A>C n.220-5231A>C c.105211T>G (p.Leu35071Val) c.79105T>G (p.Leu26369Val) c.78964T>G (p.Leu26322Val) c.105007T>G (p.Leu35003Val) c.100405T>G (p.Leu33469Val) c.100402T>G (p.Leu33468Val) c.97444T>G (p.Leu32482Val) c.79060T>G (p.Leu26354Val) c.100555T>G (p.Leu33519Val) c.100552T>G (p.Leu33518Val) c.99985T>G (p.Leu33329Val) c.97327T>G (p.Leu32443Val) c.97246T>G (p.Leu32416Val) c.79009T>G (p.Leu26337Val) c.68863T>G (p.Leu22955Val) | |
2 | g.178530501A>G | CA430235095 | TTN,TTN-AS1 | c.98410T>C (p.Leu32804=) c.79495T>C (p.Leu26499=) c.79294T>C (p.Leu26432=) c.78919T>C (p.Leu26307=) c.106114T>C (p.Leu35372=) c.101191T>C (p.Leu33731=) n.446+6865A>G n.220-5231A>G c.105211T>C (p.Leu35071=) c.79105T>C (p.Leu26369=) c.78964T>C (p.Leu26322=) c.105007T>C (p.Leu35003=) c.100405T>C (p.Leu33469=) c.100402T>C (p.Leu33468=) c.97444T>C (p.Leu32482=) c.79060T>C (p.Leu26354=) c.100555T>C (p.Leu33519=) c.100552T>C (p.Leu33518=) c.99985T>C (p.Leu33329=) c.97327T>C (p.Leu32443=) c.97246T>C (p.Leu32416=) c.79009T>C (p.Leu26337=) c.68863T>C (p.Leu22955=) | |
2 | g.178530501A>T | CA349407006 | TTN,TTN-AS1 | c.98410T>A (p.Leu32804Ile) c.79495T>A (p.Leu26499Ile) c.79294T>A (p.Leu26432Ile) c.78919T>A (p.Leu26307Ile) c.106114T>A (p.Leu35372Ile) c.101191T>A (p.Leu33731Ile) n.446+6865A>T n.220-5231A>T c.105211T>A (p.Leu35071Ile) c.79105T>A (p.Leu26369Ile) c.78964T>A (p.Leu26322Ile) c.105007T>A (p.Leu35003Ile) c.100405T>A (p.Leu33469Ile) c.100402T>A (p.Leu33468Ile) c.97444T>A (p.Leu32482Ile) c.79060T>A (p.Leu26354Ile) c.100555T>A (p.Leu33519Ile) c.100552T>A (p.Leu33518Ile) c.99985T>A (p.Leu33329Ile) c.97327T>A (p.Leu32443Ile) c.97246T>A (p.Leu32416Ile) c.79009T>A (p.Leu26337Ile) c.68863T>A (p.Leu22955Ile) | |
2 | g.178530502G>A | CA430235096 | TTN,TTN-AS1 | c.98409C>T (p.Asn32803=) c.79494C>T (p.Asn26498=) c.79293C>T (p.Asn26431=) c.78918C>T (p.Asn26306=) c.106113C>T (p.Asn35371=) c.101190C>T (p.Asn33730=) n.446+6866G>A n.220-5230G>A c.105210C>T (p.Asn35070=) c.79104C>T (p.Asn26368=) c.78963C>T (p.Asn26321=) c.105006C>T (p.Asn35002=) c.100404C>T (p.Asn33468=) c.100401C>T (p.Asn33467=) c.97443C>T (p.Asn32481=) c.79059C>T (p.Asn26353=) c.100554C>T (p.Asn33518=) c.100551C>T (p.Asn33517=) c.99984C>T (p.Asn33328=) c.97326C>T (p.Asn32442=) c.97245C>T (p.Asn32415=) c.79008C>T (p.Asn26336=) c.68862C>T (p.Asn22954=) | |
2 | g.178530502G>C | CA349407007 | TTN,TTN-AS1 | c.98409C>G (p.Asn32803Lys) c.79494C>G (p.Asn26498Lys) c.79293C>G (p.Asn26431Lys) c.78918C>G (p.Asn26306Lys) c.106113C>G (p.Asn35371Lys) c.101190C>G (p.Asn33730Lys) n.446+6866G>C n.220-5230G>C c.105210C>G (p.Asn35070Lys) c.79104C>G (p.Asn26368Lys) c.78963C>G (p.Asn26321Lys) c.105006C>G (p.Asn35002Lys) c.100404C>G (p.Asn33468Lys) c.100401C>G (p.Asn33467Lys) c.97443C>G (p.Asn32481Lys) c.79059C>G (p.Asn26353Lys) c.100554C>G (p.Asn33518Lys) c.100551C>G (p.Asn33517Lys) c.99984C>G (p.Asn33328Lys) c.97326C>G (p.Asn32442Lys) c.97245C>G (p.Asn32415Lys) c.79008C>G (p.Asn26336Lys) c.68862C>G (p.Asn22954Lys) | |
2 | g.178530502G>T | CA349407008 | TTN,TTN-AS1 | c.98409C>A (p.Asn32803Lys) c.79494C>A (p.Asn26498Lys) c.79293C>A (p.Asn26431Lys) c.78918C>A (p.Asn26306Lys) c.106113C>A (p.Asn35371Lys) c.101190C>A (p.Asn33730Lys) n.446+6866G>T n.220-5230G>T c.105210C>A (p.Asn35070Lys) c.79104C>A (p.Asn26368Lys) c.78963C>A (p.Asn26321Lys) c.105006C>A (p.Asn35002Lys) c.100404C>A (p.Asn33468Lys) c.100401C>A (p.Asn33467Lys) c.97443C>A (p.Asn32481Lys) c.79059C>A (p.Asn26353Lys) c.100554C>A (p.Asn33518Lys) c.100551C>A (p.Asn33517Lys) c.99984C>A (p.Asn33328Lys) c.97326C>A (p.Asn32442Lys) c.97245C>A (p.Asn32415Lys) c.79008C>A (p.Asn26336Lys) c.68862C>A (p.Asn22954Lys) | |
2 | g.178530503T>A | CA349407009 | TTN,TTN-AS1 | c.98408A>T (p.Asn32803Ile) c.79493A>T (p.Asn26498Ile) c.79292A>T (p.Asn26431Ile) c.78917A>T (p.Asn26306Ile) c.106112A>T (p.Asn35371Ile) c.101189A>T (p.Asn33730Ile) n.446+6867T>A n.220-5229T>A c.105209A>T (p.Asn35070Ile) c.79103A>T (p.Asn26368Ile) c.78962A>T (p.Asn26321Ile) c.105005A>T (p.Asn35002Ile) c.100403A>T (p.Asn33468Ile) c.100400A>T (p.Asn33467Ile) c.97442A>T (p.Asn32481Ile) c.79058A>T (p.Asn26353Ile) c.100553A>T (p.Asn33518Ile) c.100550A>T (p.Asn33517Ile) c.99983A>T (p.Asn33328Ile) c.97325A>T (p.Asn32442Ile) c.97244A>T (p.Asn32415Ile) c.79007A>T (p.Asn26336Ile) c.68861A>T (p.Asn22954Ile) | |
2 | g.178530503T>C | CA349407010 | TTN,TTN-AS1 | c.98408A>G (p.Asn32803Ser) c.79493A>G (p.Asn26498Ser) c.79292A>G (p.Asn26431Ser) c.78917A>G (p.Asn26306Ser) c.106112A>G (p.Asn35371Ser) c.101189A>G (p.Asn33730Ser) n.446+6867T>C n.220-5229T>C c.105209A>G (p.Asn35070Ser) c.79103A>G (p.Asn26368Ser) c.78962A>G (p.Asn26321Ser) c.105005A>G (p.Asn35002Ser) c.100403A>G (p.Asn33468Ser) c.100400A>G (p.Asn33467Ser) c.97442A>G (p.Asn32481Ser) c.79058A>G (p.Asn26353Ser) c.100553A>G (p.Asn33518Ser) c.100550A>G (p.Asn33517Ser) c.99983A>G (p.Asn33328Ser) c.97325A>G (p.Asn32442Ser) c.97244A>G (p.Asn32415Ser) c.79007A>G (p.Asn26336Ser) c.68861A>G (p.Asn22954Ser) | dbSNP gnomAD v2 |
2 | g.178530503T>G | CA349407011 | TTN,TTN-AS1 | c.98408A>C (p.Asn32803Thr) c.79493A>C (p.Asn26498Thr) c.79292A>C (p.Asn26431Thr) c.78917A>C (p.Asn26306Thr) c.106112A>C (p.Asn35371Thr) c.101189A>C (p.Asn33730Thr) n.446+6867T>G n.220-5229T>G c.105209A>C (p.Asn35070Thr) c.79103A>C (p.Asn26368Thr) c.78962A>C (p.Asn26321Thr) c.105005A>C (p.Asn35002Thr) c.100403A>C (p.Asn33468Thr) c.100400A>C (p.Asn33467Thr) c.97442A>C (p.Asn32481Thr) c.79058A>C (p.Asn26353Thr) c.100553A>C (p.Asn33518Thr) c.100550A>C (p.Asn33517Thr) c.99983A>C (p.Asn33328Thr) c.97325A>C (p.Asn32442Thr) c.97244A>C (p.Asn32415Thr) c.79007A>C (p.Asn26336Thr) c.68861A>C (p.Asn22954Thr) | |
2 | g.178530503T= | CA1310514697 | TTN,TTN-AS1 | c.98408A= (p.Asn32803=) c.79493A= (p.Asn26498=) c.79292A= (p.Asn26431=) c.78917A= (p.Asn26306=) c.106112A= (p.Asn35371=) c.101189A= (p.Asn33730=) n.446+6867T= n.220-5229T= c.105209A= (p.Asn35070=) c.79103A= (p.Asn26368=) c.78962A= (p.Asn26321=) c.105005A= (p.Asn35002=) c.100403A= (p.Asn33468=) c.100400A= (p.Asn33467=) c.97442A= (p.Asn32481=) c.79058A= (p.Asn26353=) c.100553A= (p.Asn33518=) c.100550A= (p.Asn33517=) c.99983A= (p.Asn33328=) c.97325A= (p.Asn32442=) c.97244A= (p.Asn32415=) c.79007A= (p.Asn26336=) c.68861A= (p.Asn22954=) | |
2 | g.178530504T>A | CA349407012 | TTN,TTN-AS1 | c.98407A>T (p.Asn32803Tyr) c.79492A>T (p.Asn26498Tyr) c.79291A>T (p.Asn26431Tyr) c.78916A>T (p.Asn26306Tyr) c.106111A>T (p.Asn35371Tyr) c.101188A>T (p.Asn33730Tyr) n.446+6868T>A n.220-5228T>A c.105208A>T (p.Asn35070Tyr) c.79102A>T (p.Asn26368Tyr) c.78961A>T (p.Asn26321Tyr) c.105004A>T (p.Asn35002Tyr) c.100402A>T (p.Asn33468Tyr) c.100399A>T (p.Asn33467Tyr) c.97441A>T (p.Asn32481Tyr) c.79057A>T (p.Asn26353Tyr) c.100552A>T (p.Asn33518Tyr) c.100549A>T (p.Asn33517Tyr) c.99982A>T (p.Asn33328Tyr) c.97324A>T (p.Asn32442Tyr) c.97243A>T (p.Asn32415Tyr) c.79006A>T (p.Asn26336Tyr) c.68860A>T (p.Asn22954Tyr) | |
2 | g.178530504T>C | CA349407013 | TTN,TTN-AS1 | c.98407A>G (p.Asn32803Asp) c.79492A>G (p.Asn26498Asp) c.79291A>G (p.Asn26431Asp) c.78916A>G (p.Asn26306Asp) c.106111A>G (p.Asn35371Asp) c.101188A>G (p.Asn33730Asp) n.446+6868T>C n.220-5228T>C c.105208A>G (p.Asn35070Asp) c.79102A>G (p.Asn26368Asp) c.78961A>G (p.Asn26321Asp) c.105004A>G (p.Asn35002Asp) c.100402A>G (p.Asn33468Asp) c.100399A>G (p.Asn33467Asp) c.97441A>G (p.Asn32481Asp) c.79057A>G (p.Asn26353Asp) c.100552A>G (p.Asn33518Asp) c.100549A>G (p.Asn33517Asp) c.99982A>G (p.Asn33328Asp) c.97324A>G (p.Asn32442Asp) c.97243A>G (p.Asn32415Asp) c.79006A>G (p.Asn26336Asp) c.68860A>G (p.Asn22954Asp) | |
2 | g.178530504T>G | CA349407014 | TTN,TTN-AS1 | c.98407A>C (p.Asn32803His) c.79492A>C (p.Asn26498His) c.79291A>C (p.Asn26431His) c.78916A>C (p.Asn26306His) c.106111A>C (p.Asn35371His) c.101188A>C (p.Asn33730His) n.446+6868T>G n.220-5228T>G c.105208A>C (p.Asn35070His) c.79102A>C (p.Asn26368His) c.78961A>C (p.Asn26321His) c.105004A>C (p.Asn35002His) c.100402A>C (p.Asn33468His) c.100399A>C (p.Asn33467His) c.97441A>C (p.Asn32481His) c.79057A>C (p.Asn26353His) c.100552A>C (p.Asn33518His) c.100549A>C (p.Asn33517His) c.99982A>C (p.Asn33328His) c.97324A>C (p.Asn32442His) c.97243A>C (p.Asn32415His) c.79006A>C (p.Asn26336His) c.68860A>C (p.Asn22954His) | |
2 | g.178530505G>A | CA430235101 | TTN,TTN-AS1 | c.98406C>T (p.Thr32802=) c.79491C>T (p.Thr26497=) c.79290C>T (p.Thr26430=) c.78915C>T (p.Thr26305=) c.106110C>T (p.Thr35370=) c.101187C>T (p.Thr33729=) n.446+6869G>A n.220-5227G>A c.105207C>T (p.Thr35069=) c.79101C>T (p.Thr26367=) c.78960C>T (p.Thr26320=) c.105003C>T (p.Thr35001=) c.100401C>T (p.Thr33467=) c.100398C>T (p.Thr33466=) c.97440C>T (p.Thr32480=) c.79056C>T (p.Thr26352=) c.100551C>T (p.Thr33517=) c.100548C>T (p.Thr33516=) c.99981C>T (p.Thr33327=) c.97323C>T (p.Thr32441=) c.97242C>T (p.Thr32414=) c.79005C>T (p.Thr26335=) c.68859C>T (p.Thr22953=) | dbSNP |
2 | g.178530505G>C | CA430235102 | TTN,TTN-AS1 | c.98406C>G (p.Thr32802=) c.79491C>G (p.Thr26497=) c.79290C>G (p.Thr26430=) c.78915C>G (p.Thr26305=) c.106110C>G (p.Thr35370=) c.101187C>G (p.Thr33729=) n.446+6869G>C n.220-5227G>C c.105207C>G (p.Thr35069=) c.79101C>G (p.Thr26367=) c.78960C>G (p.Thr26320=) c.105003C>G (p.Thr35001=) c.100401C>G (p.Thr33467=) c.100398C>G (p.Thr33466=) c.97440C>G (p.Thr32480=) c.79056C>G (p.Thr26352=) c.100551C>G (p.Thr33517=) c.100548C>G (p.Thr33516=) c.99981C>G (p.Thr33327=) c.97323C>G (p.Thr32441=) c.97242C>G (p.Thr32414=) c.79005C>G (p.Thr26335=) c.68859C>G (p.Thr22953=) | |
2 | g.178530505G>T | CA430235103 | TTN,TTN-AS1 | c.98406C>A (p.Thr32802=) c.79491C>A (p.Thr26497=) c.79290C>A (p.Thr26430=) c.78915C>A (p.Thr26305=) c.106110C>A (p.Thr35370=) c.101187C>A (p.Thr33729=) n.446+6869G>T n.220-5227G>T c.105207C>A (p.Thr35069=) c.79101C>A (p.Thr26367=) c.78960C>A (p.Thr26320=) c.105003C>A (p.Thr35001=) c.100401C>A (p.Thr33467=) c.100398C>A (p.Thr33466=) c.97440C>A (p.Thr32480=) c.79056C>A (p.Thr26352=) c.100551C>A (p.Thr33517=) c.100548C>A (p.Thr33516=) c.99981C>A (p.Thr33327=) c.97323C>A (p.Thr32441=) c.97242C>A (p.Thr32414=) c.79005C>A (p.Thr26335=) c.68859C>A (p.Thr22953=) | |
2 | g.178530506G>A | CA349407015 | TTN,TTN-AS1 | c.98405C>T (p.Thr32802Ile) c.79490C>T (p.Thr26497Ile) c.79289C>T (p.Thr26430Ile) c.78914C>T (p.Thr26305Ile) c.106109C>T (p.Thr35370Ile) c.101186C>T (p.Thr33729Ile) n.446+6870G>A n.220-5226G>A c.105206C>T (p.Thr35069Ile) c.79100C>T (p.Thr26367Ile) c.78959C>T (p.Thr26320Ile) c.105002C>T (p.Thr35001Ile) c.100400C>T (p.Thr33467Ile) c.100397C>T (p.Thr33466Ile) c.97439C>T (p.Thr32480Ile) c.79055C>T (p.Thr26352Ile) c.100550C>T (p.Thr33517Ile) c.100547C>T (p.Thr33516Ile) c.99980C>T (p.Thr33327Ile) c.97322C>T (p.Thr32441Ile) c.97241C>T (p.Thr32414Ile) c.79004C>T (p.Thr26335Ile) c.68858C>T (p.Thr22953Ile) | gnomAD v4 |
2 | g.178530506G>C | CA349407016 | TTN,TTN-AS1 | c.98405C>G (p.Thr32802Ser) c.79490C>G (p.Thr26497Ser) c.79289C>G (p.Thr26430Ser) c.78914C>G (p.Thr26305Ser) c.106109C>G (p.Thr35370Ser) c.101186C>G (p.Thr33729Ser) n.446+6870G>C n.220-5226G>C c.105206C>G (p.Thr35069Ser) c.79100C>G (p.Thr26367Ser) c.78959C>G (p.Thr26320Ser) c.105002C>G (p.Thr35001Ser) c.100400C>G (p.Thr33467Ser) c.100397C>G (p.Thr33466Ser) c.97439C>G (p.Thr32480Ser) c.79055C>G (p.Thr26352Ser) c.100550C>G (p.Thr33517Ser) c.100547C>G (p.Thr33516Ser) c.99980C>G (p.Thr33327Ser) c.97322C>G (p.Thr32441Ser) c.97241C>G (p.Thr32414Ser) c.79004C>G (p.Thr26335Ser) c.68858C>G (p.Thr22953Ser) | dbSNP |
2 | g.178530506G= | CA1310514699 | TTN,TTN-AS1 | c.98405C= (p.Thr32802=) c.79490C= (p.Thr26497=) c.79289C= (p.Thr26430=) c.78914C= (p.Thr26305=) c.106109C= (p.Thr35370=) c.101186C= (p.Thr33729=) n.446+6870G= n.220-5226G= c.105206C= (p.Thr35069=) c.79100C= (p.Thr26367=) c.78959C= (p.Thr26320=) c.105002C= (p.Thr35001=) c.100400C= (p.Thr33467=) c.100397C= (p.Thr33466=) c.97439C= (p.Thr32480=) c.79055C= (p.Thr26352=) c.100550C= (p.Thr33517=) c.100547C= (p.Thr33516=) c.99980C= (p.Thr33327=) c.97322C= (p.Thr32441=) c.97241C= (p.Thr32414=) c.79004C= (p.Thr26335=) c.68858C= (p.Thr22953=) | |
2 | g.178530506G>T | CA60953420 | TTN,TTN-AS1 | c.98405C>A (p.Thr32802Asn) c.79490C>A (p.Thr26497Asn) c.79289C>A (p.Thr26430Asn) c.78914C>A (p.Thr26305Asn) c.106109C>A (p.Thr35370Asn) c.101186C>A (p.Thr33729Asn) n.446+6870G>T n.220-5226G>T c.105206C>A (p.Thr35069Asn) c.79100C>A (p.Thr26367Asn) c.78959C>A (p.Thr26320Asn) c.105002C>A (p.Thr35001Asn) c.100400C>A (p.Thr33467Asn) c.100397C>A (p.Thr33466Asn) c.97439C>A (p.Thr32480Asn) c.79055C>A (p.Thr26352Asn) c.100550C>A (p.Thr33517Asn) c.100547C>A (p.Thr33516Asn) c.99980C>A (p.Thr33327Asn) c.97322C>A (p.Thr32441Asn) c.97241C>A (p.Thr32414Asn) c.79004C>A (p.Thr26335Asn) c.68858C>A (p.Thr22953Asn) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530507T>A | CA349407018 | TTN,TTN-AS1 | c.98404A>T (p.Thr32802Ser) c.79489A>T (p.Thr26497Ser) c.79288A>T (p.Thr26430Ser) c.78913A>T (p.Thr26305Ser) c.106108A>T (p.Thr35370Ser) c.101185A>T (p.Thr33729Ser) n.446+6871T>A n.220-5225T>A c.105205A>T (p.Thr35069Ser) c.79099A>T (p.Thr26367Ser) c.78958A>T (p.Thr26320Ser) c.105001A>T (p.Thr35001Ser) c.100399A>T (p.Thr33467Ser) c.100396A>T (p.Thr33466Ser) c.97438A>T (p.Thr32480Ser) c.79054A>T (p.Thr26352Ser) c.100549A>T (p.Thr33517Ser) c.100546A>T (p.Thr33516Ser) c.99979A>T (p.Thr33327Ser) c.97321A>T (p.Thr32441Ser) c.97240A>T (p.Thr32414Ser) c.79003A>T (p.Thr26335Ser) c.68857A>T (p.Thr22953Ser) | |
2 | g.178530507T>C | CA60953427 | TTN,TTN-AS1 | c.98404A>G (p.Thr32802Ala) c.79489A>G (p.Thr26497Ala) c.79288A>G (p.Thr26430Ala) c.78913A>G (p.Thr26305Ala) c.106108A>G (p.Thr35370Ala) c.101185A>G (p.Thr33729Ala) n.446+6871T>C n.220-5225T>C c.105205A>G (p.Thr35069Ala) c.79099A>G (p.Thr26367Ala) c.78958A>G (p.Thr26320Ala) c.105001A>G (p.Thr35001Ala) c.100399A>G (p.Thr33467Ala) c.100396A>G (p.Thr33466Ala) c.97438A>G (p.Thr32480Ala) c.79054A>G (p.Thr26352Ala) c.100549A>G (p.Thr33517Ala) c.100546A>G (p.Thr33516Ala) c.99979A>G (p.Thr33327Ala) c.97321A>G (p.Thr32441Ala) c.97240A>G (p.Thr32414Ala) c.79003A>G (p.Thr26335Ala) c.68857A>G (p.Thr22953Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |