Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178530494A=CA1310514685TTN,TTN-AS1c.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=)
2g.178530494A>CCA349406989TTN,TTN-AS1c.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)
2g.178530494A>GCA349406990TTN,TTN-AS1c.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)
2g.178530494A>TCA183679TTN,TTN-AS1c.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
2g.178530495A=CA1310514687TTN,TTN-AS1c.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=)
2g.178530495A>CCA349406991TTN,TTN-AS1c.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)
2g.178530495A>GCA349406992TTN,TTN-AS1c.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)
2g.178530495A>TCA238441TTN,TTN-AS1c.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
2g.178530496T>ACA349406993TTN,TTN-AS1c.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)
2g.178530496T>CCA430235089TTN,TTN-AS1c.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
2g.178530496T>GCA349406994TTN,TTN-AS1c.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)
2g.178530496T=CA1310514689TTN,TTN-AS1c.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=)
2g.178530497T>ACA349406995TTN,TTN-AS1c.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)
2g.178530497T>CCA349406996TTN,TTN-AS1c.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)
2g.178530497T>GCA349406997TTN,TTN-AS1c.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)
2g.178530498G>ACA349406998TTN,TTN-AS1c.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
2g.178530498G>CCA349406999TTN,TTN-AS1c.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)
2g.178530498G=CA1310514691TTN,TTN-AS1c.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=)
2g.178530498G>TCA1985163TTN,TTN-AS1c.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
2g.178530499T>ACA349407000TTN,TTN-AS1c.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)
2g.178530499T>CCA430235092TTN,TTN-AS1c.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=)
2g.178530499T>GCA349407001TTN,TTN-AS1c.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
2g.178530499T=CA1310514693TTN,TTN-AS1c.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=)
2g.178530499_178530500insTTCA2586970739TTN,TTN-AS1c.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?)
2g.178530500A>CCA349407004TTN,TTN-AS1c.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)
2g.178530500A>GCA349407003TTN,TTN-AS1c.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)
2g.178530500A>TCA349407002TTN,TTN-AS1c.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)
2g.178530500_178530501dupCA761284672TTN,TTN-AS1c.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
2g.178530501A>CCA349407005TTN,TTN-AS1c.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)
2g.178530501A>GCA430235095TTN,TTN-AS1c.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=)
2g.178530501A>TCA349407006TTN,TTN-AS1c.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)
2g.178530502G>ACA430235096TTN,TTN-AS1c.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=)
2g.178530502G>CCA349407007TTN,TTN-AS1c.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)
2g.178530502G>TCA349407008TTN,TTN-AS1c.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)
2g.178530503T>ACA349407009TTN,TTN-AS1c.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)
2g.178530503T>CCA349407010TTN,TTN-AS1c.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
2g.178530503T>GCA349407011TTN,TTN-AS1c.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)
2g.178530503T=CA1310514697TTN,TTN-AS1c.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=)
2g.178530504T>ACA349407012TTN,TTN-AS1c.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)
2g.178530504T>CCA349407013TTN,TTN-AS1c.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)
2g.178530504T>GCA349407014TTN,TTN-AS1c.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)
2g.178530505G>ACA430235101TTN,TTN-AS1c.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
2g.178530505G>CCA430235102TTN,TTN-AS1c.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=)
2g.178530505G>TCA430235103TTN,TTN-AS1c.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=)
2g.178530506G>ACA349407015TTN,TTN-AS1c.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
2g.178530506G>CCA349407016TTN,TTN-AS1c.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
2g.178530506G=CA1310514699TTN,TTN-AS1c.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=)
2g.178530506G>TCA60953420TTN,TTN-AS1c.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
2g.178530507T>ACA349407018TTN,TTN-AS1c.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)
2g.178530507T>CCA60953427TTN,TTN-AS1c.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

Number of alleles fetched