Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178546118_178546212delCA2753330720TTN,TTN-AS1c.87415+1_87416-1del
c.68500+1_68501-1del
c.68299+1_68300-1del
c.67924+1_67925-1del
c.95119+1_95120-1del
c.90196+1_90197-1del
n.446+22482_446+22576del
n.2043+3757_2043+3851del
c.94216+1_94217-1del
c.68110+1_68111-1del
c.67969+1_67970-1del
c.94012+1_94013-1del
c.89410+1_89411-1del
c.89407+1_89408-1del
c.86449+1_86450-1del
c.68065+1_68066-1del
c.89560+1_89561-1del
c.89557+1_89558-1del
c.88990+1_88991-1del
c.86332+1_86333-1del
c.86251+1_86252-1del
c.68014+1_68015-1del
c.57868+1_57869-1del
2g.178546199T>GCA2662125562TTN,TTN-AS1c.87415+13A>C (n.87415+13A>C)
c.68500+13A>C (n.68500+13A>C)
c.68299+13A>C (n.68299+13A>C)
c.67924+13A>C (n.67924+13A>C)
c.95119+13A>C (n.95119+13A>C)
c.90196+13A>C (n.90196+13A>C)
n.446+22563T>G
n.2043+3838T>G
c.94216+13A>C (n.94216+13A>C)
c.68110+13A>C (n.68110+13A>C)
c.67969+13A>C (n.67969+13A>C)
c.94012+13A>C (n.94012+13A>C)
c.89410+13A>C (n.89410+13A>C)
c.89407+13A>C (n.89407+13A>C)
c.86449+13A>C (n.86449+13A>C)
c.68065+13A>C (n.68065+13A>C)
c.89560+13A>C (n.89560+13A>C)
c.89557+13A>C (n.89557+13A>C)
c.88990+13A>C (n.88990+13A>C)
c.86332+13A>C (n.86332+13A>C)
c.86251+13A>C (n.86251+13A>C)
c.68014+13A>C (n.68014+13A>C)
c.57868+13A>C (n.57868+13A>C)
 gnomAD v4
2g.178546203C=CA1310522832TTN,TTN-AS1c.87415+9G= (n.87415+9G=)
c.68500+9G= (n.68500+9G=)
c.68299+9G= (n.68299+9G=)
c.67924+9G= (n.67924+9G=)
c.95119+9G= (n.95119+9G=)
c.90196+9G= (n.90196+9G=)
n.446+22567C=
n.2043+3842C=
c.94216+9G= (n.94216+9G=)
c.68110+9G= (n.68110+9G=)
c.67969+9G= (n.67969+9G=)
c.94012+9G= (n.94012+9G=)
c.89410+9G= (n.89410+9G=)
c.89407+9G= (n.89407+9G=)
c.86449+9G= (n.86449+9G=)
c.68065+9G= (n.68065+9G=)
c.89560+9G= (n.89560+9G=)
c.89557+9G= (n.89557+9G=)
c.88990+9G= (n.88990+9G=)
c.86332+9G= (n.86332+9G=)
c.86251+9G= (n.86251+9G=)
c.68014+9G= (n.68014+9G=)
c.57868+9G= (n.57868+9G=)
2g.178546203C>GCA1987015TTN,TTN-AS1c.87415+9G>C (n.87415+9G>C)
c.68500+9G>C (n.68500+9G>C)
c.68299+9G>C (n.68299+9G>C)
c.67924+9G>C (n.67924+9G>C)
c.95119+9G>C (n.95119+9G>C)
c.90196+9G>C (n.90196+9G>C)
n.446+22567C>G
n.2043+3842C>G
c.94216+9G>C (n.94216+9G>C)
c.68110+9G>C (n.68110+9G>C)
c.67969+9G>C (n.67969+9G>C)
c.94012+9G>C (n.94012+9G>C)
c.89410+9G>C (n.89410+9G>C)
c.89407+9G>C (n.89407+9G>C)
c.86449+9G>C (n.86449+9G>C)
c.68065+9G>C (n.68065+9G>C)
c.89560+9G>C (n.89560+9G>C)
c.89557+9G>C (n.89557+9G>C)
c.88990+9G>C (n.88990+9G>C)
c.86332+9G>C (n.86332+9G>C)
c.86251+9G>C (n.86251+9G>C)
c.68014+9G>C (n.68014+9G>C)
c.57868+9G>C (n.57868+9G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178546204A=CA1310522839TTN,TTN-AS1c.87415+8T= (n.87415+8T=)
c.68500+8T= (n.68500+8T=)
c.68299+8T= (n.68299+8T=)
c.67924+8T= (n.67924+8T=)
c.95119+8T= (n.95119+8T=)
c.90196+8T= (n.90196+8T=)
n.446+22568A=
n.2043+3843A=
c.94216+8T= (n.94216+8T=)
c.68110+8T= (n.68110+8T=)
c.67969+8T= (n.67969+8T=)
c.94012+8T= (n.94012+8T=)
c.89410+8T= (n.89410+8T=)
c.89407+8T= (n.89407+8T=)
c.86449+8T= (n.86449+8T=)
c.68065+8T= (n.68065+8T=)
c.89560+8T= (n.89560+8T=)
c.89557+8T= (n.89557+8T=)
c.88990+8T= (n.88990+8T=)
c.86332+8T= (n.86332+8T=)
c.86251+8T= (n.86251+8T=)
c.68014+8T= (n.68014+8T=)
c.57868+8T= (n.57868+8T=)
2g.178546204A>CCA60972258TTN,TTN-AS1c.87415+8T>G (n.87415+8T>G)
c.68500+8T>G (n.68500+8T>G)
c.68299+8T>G (n.68299+8T>G)
c.67924+8T>G (n.67924+8T>G)
c.95119+8T>G (n.95119+8T>G)
c.90196+8T>G (n.90196+8T>G)
n.446+22568A>C
n.2043+3843A>C
c.94216+8T>G (n.94216+8T>G)
c.68110+8T>G (n.68110+8T>G)
c.67969+8T>G (n.67969+8T>G)
c.94012+8T>G (n.94012+8T>G)
c.89410+8T>G (n.89410+8T>G)
c.89407+8T>G (n.89407+8T>G)
c.86449+8T>G (n.86449+8T>G)
c.68065+8T>G (n.68065+8T>G)
c.89560+8T>G (n.89560+8T>G)
c.89557+8T>G (n.89557+8T>G)
c.88990+8T>G (n.88990+8T>G)
c.86332+8T>G (n.86332+8T>G)
c.86251+8T>G (n.86251+8T>G)
c.68014+8T>G (n.68014+8T>G)
c.57868+8T>G (n.57868+8T>G)
 ClinVar dbSNP gnomAD v4
2g.178546204A>GCA1987016TTN,TTN-AS1c.87415+8T>C (n.87415+8T>C)
c.68500+8T>C (n.68500+8T>C)
c.68299+8T>C (n.68299+8T>C)
c.67924+8T>C (n.67924+8T>C)
c.95119+8T>C (n.95119+8T>C)
c.90196+8T>C (n.90196+8T>C)
n.446+22568A>G
n.2043+3843A>G
c.94216+8T>C (n.94216+8T>C)
c.68110+8T>C (n.68110+8T>C)
c.67969+8T>C (n.67969+8T>C)
c.94012+8T>C (n.94012+8T>C)
c.89410+8T>C (n.89410+8T>C)
c.89407+8T>C (n.89407+8T>C)
c.86449+8T>C (n.86449+8T>C)
c.68065+8T>C (n.68065+8T>C)
c.89560+8T>C (n.89560+8T>C)
c.89557+8T>C (n.89557+8T>C)
c.88990+8T>C (n.88990+8T>C)
c.86332+8T>C (n.86332+8T>C)
c.86251+8T>C (n.86251+8T>C)
c.68014+8T>C (n.68014+8T>C)
c.57868+8T>C (n.57868+8T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178546204A>TCA538435111TTN,TTN-AS1c.87415+8T>A (n.87415+8T>A)
c.68500+8T>A (n.68500+8T>A)
c.68299+8T>A (n.68299+8T>A)
c.67924+8T>A (n.67924+8T>A)
c.95119+8T>A (n.95119+8T>A)
c.90196+8T>A (n.90196+8T>A)
n.446+22568A>T
n.2043+3843A>T
c.94216+8T>A (n.94216+8T>A)
c.68110+8T>A (n.68110+8T>A)
c.67969+8T>A (n.67969+8T>A)
c.94012+8T>A (n.94012+8T>A)
c.89410+8T>A (n.89410+8T>A)
c.89407+8T>A (n.89407+8T>A)
c.86449+8T>A (n.86449+8T>A)
c.68065+8T>A (n.68065+8T>A)
c.89560+8T>A (n.89560+8T>A)
c.89557+8T>A (n.89557+8T>A)
c.88990+8T>A (n.88990+8T>A)
c.86332+8T>A (n.86332+8T>A)
c.86251+8T>A (n.86251+8T>A)
c.68014+8T>A (n.68014+8T>A)
c.57868+8T>A (n.57868+8T>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178546206G>CCA2662125570TTN,TTN-AS1c.87415+6C>G (n.87415+6C>G)
c.68500+6C>G (n.68500+6C>G)
c.68299+6C>G (n.68299+6C>G)
c.67924+6C>G (n.67924+6C>G)
c.95119+6C>G (n.95119+6C>G)
c.90196+6C>G (n.90196+6C>G)
n.446+22570G>C
n.2043+3845G>C
c.94216+6C>G (n.94216+6C>G)
c.68110+6C>G (n.68110+6C>G)
c.67969+6C>G (n.67969+6C>G)
c.94012+6C>G (n.94012+6C>G)
c.89410+6C>G (n.89410+6C>G)
c.89407+6C>G (n.89407+6C>G)
c.86449+6C>G (n.86449+6C>G)
c.68065+6C>G (n.68065+6C>G)
c.89560+6C>G (n.89560+6C>G)
c.89557+6C>G (n.89557+6C>G)
c.88990+6C>G (n.88990+6C>G)
c.86332+6C>G (n.86332+6C>G)
c.86251+6C>G (n.86251+6C>G)
c.68014+6C>G (n.68014+6C>G)
c.57868+6C>G (n.57868+6C>G)
 gnomAD v4
2g.178546208T>CCA2662125574TTN,TTN-AS1c.87415+4A>G (n.87415+4A>G)
c.68500+4A>G (n.68500+4A>G)
c.68299+4A>G (n.68299+4A>G)
c.67924+4A>G (n.67924+4A>G)
c.95119+4A>G (n.95119+4A>G)
c.90196+4A>G (n.90196+4A>G)
n.446+22572T>C
n.2043+3847T>C
c.94216+4A>G (n.94216+4A>G)
c.68110+4A>G (n.68110+4A>G)
c.67969+4A>G (n.67969+4A>G)
c.94012+4A>G (n.94012+4A>G)
c.89410+4A>G (n.89410+4A>G)
c.89407+4A>G (n.89407+4A>G)
c.86449+4A>G (n.86449+4A>G)
c.68065+4A>G (n.68065+4A>G)
c.89560+4A>G (n.89560+4A>G)
c.89557+4A>G (n.89557+4A>G)
c.88990+4A>G (n.88990+4A>G)
c.86332+4A>G (n.86332+4A>G)
c.86251+4A>G (n.86251+4A>G)
c.68014+4A>G (n.68014+4A>G)
c.57868+4A>G (n.57868+4A>G)
 gnomAD v4
2g.178546210A>CCA349466233TTN,TTN-AS1c.87415+2T>G (n.87415+2T>G)
c.68500+2T>G (n.68500+2T>G)
c.68299+2T>G (n.68299+2T>G)
c.67924+2T>G (n.67924+2T>G)
c.95119+2T>G (n.95119+2T>G)
c.90196+2T>G (n.90196+2T>G)
n.446+22574A>C
n.2043+3849A>C
c.94216+2T>G (n.94216+2T>G)
c.68110+2T>G (n.68110+2T>G)
c.67969+2T>G (n.67969+2T>G)
c.94012+2T>G (n.94012+2T>G)
c.89410+2T>G (n.89410+2T>G)
c.89407+2T>G (n.89407+2T>G)
c.86449+2T>G (n.86449+2T>G)
c.68065+2T>G (n.68065+2T>G)
c.89560+2T>G (n.89560+2T>G)
c.89557+2T>G (n.89557+2T>G)
c.88990+2T>G (n.88990+2T>G)
c.86332+2T>G (n.86332+2T>G)
c.86251+2T>G (n.86251+2T>G)
c.68014+2T>G (n.68014+2T>G)
c.57868+2T>G (n.57868+2T>G)
2g.178546210A>GCA349466231TTN,TTN-AS1c.87415+2T>C (n.87415+2T>C)
c.68500+2T>C (n.68500+2T>C)
c.68299+2T>C (n.68299+2T>C)
c.67924+2T>C (n.67924+2T>C)
c.95119+2T>C (n.95119+2T>C)
c.90196+2T>C (n.90196+2T>C)
n.446+22574A>G
n.2043+3849A>G
c.94216+2T>C (n.94216+2T>C)
c.68110+2T>C (n.68110+2T>C)
c.67969+2T>C (n.67969+2T>C)
c.94012+2T>C (n.94012+2T>C)
c.89410+2T>C (n.89410+2T>C)
c.89407+2T>C (n.89407+2T>C)
c.86449+2T>C (n.86449+2T>C)
c.68065+2T>C (n.68065+2T>C)
c.89560+2T>C (n.89560+2T>C)
c.89557+2T>C (n.89557+2T>C)
c.88990+2T>C (n.88990+2T>C)
c.86332+2T>C (n.86332+2T>C)
c.86251+2T>C (n.86251+2T>C)
c.68014+2T>C (n.68014+2T>C)
c.57868+2T>C (n.57868+2T>C)
2g.178546210A>TCA349466232TTN,TTN-AS1c.87415+2T>A (n.87415+2T>A)
c.68500+2T>A (n.68500+2T>A)
c.68299+2T>A (n.68299+2T>A)
c.67924+2T>A (n.67924+2T>A)
c.95119+2T>A (n.95119+2T>A)
c.90196+2T>A (n.90196+2T>A)
n.446+22574A>T
n.2043+3849A>T
c.94216+2T>A (n.94216+2T>A)
c.68110+2T>A (n.68110+2T>A)
c.67969+2T>A (n.67969+2T>A)
c.94012+2T>A (n.94012+2T>A)
c.89410+2T>A (n.89410+2T>A)
c.89407+2T>A (n.89407+2T>A)
c.86449+2T>A (n.86449+2T>A)
c.68065+2T>A (n.68065+2T>A)
c.89560+2T>A (n.89560+2T>A)
c.89557+2T>A (n.89557+2T>A)
c.88990+2T>A (n.88990+2T>A)
c.86332+2T>A (n.86332+2T>A)
c.86251+2T>A (n.86251+2T>A)
c.68014+2T>A (n.68014+2T>A)
c.57868+2T>A (n.57868+2T>A)
2g.178546211C>ACA349466234TTN,TTN-AS1c.87415+1G>T (n.87415+1G>T)
c.68500+1G>T (n.68500+1G>T)
c.68299+1G>T (n.68299+1G>T)
c.67924+1G>T (n.67924+1G>T)
c.95119+1G>T (n.95119+1G>T)
c.90196+1G>T (n.90196+1G>T)
n.446+22575C>A
n.2043+3850C>A
c.94216+1G>T (n.94216+1G>T)
c.68110+1G>T (n.68110+1G>T)
c.67969+1G>T (n.67969+1G>T)
c.94012+1G>T (n.94012+1G>T)
c.89410+1G>T (n.89410+1G>T)
c.89407+1G>T (n.89407+1G>T)
c.86449+1G>T (n.86449+1G>T)
c.68065+1G>T (n.68065+1G>T)
c.89560+1G>T (n.89560+1G>T)
c.89557+1G>T (n.89557+1G>T)
c.88990+1G>T (n.88990+1G>T)
c.86332+1G>T (n.86332+1G>T)
c.86251+1G>T (n.86251+1G>T)
c.68014+1G>T (n.68014+1G>T)
c.57868+1G>T (n.57868+1G>T)
2g.178546211C=CA1310522842TTN,TTN-AS1c.87415+1G= (n.87415+1G=)
c.68500+1G= (n.68500+1G=)
c.68299+1G= (n.68299+1G=)
c.67924+1G= (n.67924+1G=)
c.95119+1G= (n.95119+1G=)
c.90196+1G= (n.90196+1G=)
n.446+22575C=
n.2043+3850C=
c.94216+1G= (n.94216+1G=)
c.68110+1G= (n.68110+1G=)
c.67969+1G= (n.67969+1G=)
c.94012+1G= (n.94012+1G=)
c.89410+1G= (n.89410+1G=)
c.89407+1G= (n.89407+1G=)
c.86449+1G= (n.86449+1G=)
c.68065+1G= (n.68065+1G=)
c.89560+1G= (n.89560+1G=)
c.89557+1G= (n.89557+1G=)
c.88990+1G= (n.88990+1G=)
c.86332+1G= (n.86332+1G=)
c.86251+1G= (n.86251+1G=)
c.68014+1G= (n.68014+1G=)
c.57868+1G= (n.57868+1G=)
2g.178546211C>GCA349466235TTN,TTN-AS1c.87415+1G>C (n.87415+1G>C)
c.68500+1G>C (n.68500+1G>C)
c.68299+1G>C (n.68299+1G>C)
c.67924+1G>C (n.67924+1G>C)
c.95119+1G>C (n.95119+1G>C)
c.90196+1G>C (n.90196+1G>C)
n.446+22575C>G
n.2043+3850C>G
c.94216+1G>C (n.94216+1G>C)
c.68110+1G>C (n.68110+1G>C)
c.67969+1G>C (n.67969+1G>C)
c.94012+1G>C (n.94012+1G>C)
c.89410+1G>C (n.89410+1G>C)
c.89407+1G>C (n.89407+1G>C)
c.86449+1G>C (n.86449+1G>C)
c.68065+1G>C (n.68065+1G>C)
c.89560+1G>C (n.89560+1G>C)
c.89557+1G>C (n.89557+1G>C)
c.88990+1G>C (n.88990+1G>C)
c.86332+1G>C (n.86332+1G>C)
c.86251+1G>C (n.86251+1G>C)
c.68014+1G>C (n.68014+1G>C)
c.57868+1G>C (n.57868+1G>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178546211C>TCA60972268TTN,TTN-AS1c.87415+1G>A (n.87415+1G>A)
c.68500+1G>A (n.68500+1G>A)
c.68299+1G>A (n.68299+1G>A)
c.67924+1G>A (n.67924+1G>A)
c.95119+1G>A (n.95119+1G>A)
c.90196+1G>A (n.90196+1G>A)
n.446+22575C>T
n.2043+3850C>T
c.94216+1G>A (n.94216+1G>A)
c.68110+1G>A (n.68110+1G>A)
c.67969+1G>A (n.67969+1G>A)
c.94012+1G>A (n.94012+1G>A)
c.89410+1G>A (n.89410+1G>A)
c.89407+1G>A (n.89407+1G>A)
c.86449+1G>A (n.86449+1G>A)
c.68065+1G>A (n.68065+1G>A)
c.89560+1G>A (n.89560+1G>A)
c.89557+1G>A (n.89557+1G>A)
c.88990+1G>A (n.88990+1G>A)
c.86332+1G>A (n.86332+1G>A)
c.86251+1G>A (n.86251+1G>A)
c.68014+1G>A (n.68014+1G>A)
c.57868+1G>A (n.57868+1G>A)
 dbSNP
2g.178546212C>ACA349466245TTN,TTN-AS1c.87415G>T (p.Asp29139Tyr)
c.68500G>T (p.Asp22834Tyr)
c.68299G>T (p.Asp22767Tyr)
c.67924G>T (p.Asp22642Tyr)
c.95119G>T (p.Asp31707Tyr)
c.90196G>T (p.Asp30066Tyr)
n.446+22576C>A
n.2043+3851C>A
c.94216G>T (p.Asp31406Tyr)
c.68110G>T (p.Asp22704Tyr)
c.67969G>T (p.Asp22657Tyr)
c.94012G>T (p.Asp31338Tyr)
c.89410G>T (p.Asp29804Tyr)
c.89407G>T (p.Asp29803Tyr)
c.86449G>T (p.Asp28817Tyr)
c.68065G>T (p.Asp22689Tyr)
c.89560G>T (p.Asp29854Tyr)
c.89557G>T (p.Asp29853Tyr)
c.88990G>T (p.Asp29664Tyr)
c.86332G>T (p.Asp28778Tyr)
c.86251G>T (p.Asp28751Tyr)
c.68014G>T (p.Asp22672Tyr)
c.57868G>T (p.Asp19290Tyr)
2g.178546212C=CA1310522845TTN,TTN-AS1c.87415G= (p.Asp29139=)
c.68500G= (p.Asp22834=)
c.68299G= (p.Asp22767=)
c.67924G= (p.Asp22642=)
c.95119G= (p.Asp31707=)
c.90196G= (p.Asp30066=)
n.446+22576C=
n.2043+3851C=
c.94216G= (p.Asp31406=)
c.68110G= (p.Asp22704=)
c.67969G= (p.Asp22657=)
c.94012G= (p.Asp31338=)
c.89410G= (p.Asp29804=)
c.89407G= (p.Asp29803=)
c.86449G= (p.Asp28817=)
c.68065G= (p.Asp22689=)
c.89560G= (p.Asp29854=)
c.89557G= (p.Asp29853=)
c.88990G= (p.Asp29664=)
c.86332G= (p.Asp28778=)
c.86251G= (p.Asp28751=)
c.68014G= (p.Asp22672=)
c.57868G= (p.Asp19290=)
2g.178546212C>GCA349466243TTN,TTN-AS1c.87415G>C (p.Asp29139His)
c.68500G>C (p.Asp22834His)
c.68299G>C (p.Asp22767His)
c.67924G>C (p.Asp22642His)
c.95119G>C (p.Asp31707His)
c.90196G>C (p.Asp30066His)
n.446+22576C>G
n.2043+3851C>G
c.94216G>C (p.Asp31406His)
c.68110G>C (p.Asp22704His)
c.67969G>C (p.Asp22657His)
c.94012G>C (p.Asp31338His)
c.89410G>C (p.Asp29804His)
c.89407G>C (p.Asp29803His)
c.86449G>C (p.Asp28817His)
c.68065G>C (p.Asp22689His)
c.89560G>C (p.Asp29854His)
c.89557G>C (p.Asp29853His)
c.88990G>C (p.Asp29664His)
c.86332G>C (p.Asp28778His)
c.86251G>C (p.Asp28751His)
c.68014G>C (p.Asp22672His)
c.57868G>C (p.Asp19290His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178546212C>TCA349466239TTN,TTN-AS1c.87415G>A (p.Asp29139Asn)
c.68500G>A (p.Asp22834Asn)
c.68299G>A (p.Asp22767Asn)
c.67924G>A (p.Asp22642Asn)
c.95119G>A (p.Asp31707Asn)
c.90196G>A (p.Asp30066Asn)
n.446+22576C>T
n.2043+3851C>T
c.94216G>A (p.Asp31406Asn)
c.68110G>A (p.Asp22704Asn)
c.67969G>A (p.Asp22657Asn)
c.94012G>A (p.Asp31338Asn)
c.89410G>A (p.Asp29804Asn)
c.89407G>A (p.Asp29803Asn)
c.86449G>A (p.Asp28817Asn)
c.68065G>A (p.Asp22689Asn)
c.89560G>A (p.Asp29854Asn)
c.89557G>A (p.Asp29853Asn)
c.88990G>A (p.Asp29664Asn)
c.86332G>A (p.Asp28778Asn)
c.86251G>A (p.Asp28751Asn)
c.68014G>A (p.Asp22672Asn)
c.57868G>A (p.Asp19290Asn)
2g.178546213A>CCA430242032TTN,TTN-AS1c.87414T>G (p.Leu29138=)
c.68499T>G (p.Leu22833=)
c.68298T>G (p.Leu22766=)
c.67923T>G (p.Leu22641=)
c.95118T>G (p.Leu31706=)
c.90195T>G (p.Leu30065=)
n.446+22577A>C
n.2043+3852A>C
c.94215T>G (p.Leu31405=)
c.68109T>G (p.Leu22703=)
c.67968T>G (p.Leu22656=)
c.94011T>G (p.Leu31337=)
c.89409T>G (p.Leu29803=)
c.89406T>G (p.Leu29802=)
c.86448T>G (p.Leu28816=)
c.68064T>G (p.Leu22688=)
c.89559T>G (p.Leu29853=)
c.89556T>G (p.Leu29852=)
c.88989T>G (p.Leu29663=)
c.86331T>G (p.Leu28777=)
c.86250T>G (p.Leu28750=)
c.68013T>G (p.Leu22671=)
c.57867T>G (p.Leu19289=)
2g.178546213A>GCA430242033TTN,TTN-AS1c.87414T>C (p.Leu29138=)
c.68499T>C (p.Leu22833=)
c.68298T>C (p.Leu22766=)
c.67923T>C (p.Leu22641=)
c.95118T>C (p.Leu31706=)
c.90195T>C (p.Leu30065=)
n.446+22577A>G
n.2043+3852A>G
c.94215T>C (p.Leu31405=)
c.68109T>C (p.Leu22703=)
c.67968T>C (p.Leu22656=)
c.94011T>C (p.Leu31337=)
c.89409T>C (p.Leu29803=)
c.89406T>C (p.Leu29802=)
c.86448T>C (p.Leu28816=)
c.68064T>C (p.Leu22688=)
c.89559T>C (p.Leu29853=)
c.89556T>C (p.Leu29852=)
c.88989T>C (p.Leu29663=)
c.86331T>C (p.Leu28777=)
c.86250T>C (p.Leu28750=)
c.68013T>C (p.Leu22671=)
c.57867T>C (p.Leu19289=)
2g.178546213A>TCA430242034TTN,TTN-AS1c.87414T>A (p.Leu29138=)
c.68499T>A (p.Leu22833=)
c.68298T>A (p.Leu22766=)
c.67923T>A (p.Leu22641=)
c.95118T>A (p.Leu31706=)
c.90195T>A (p.Leu30065=)
n.446+22577A>T
n.2043+3852A>T
c.94215T>A (p.Leu31405=)
c.68109T>A (p.Leu22703=)
c.67968T>A (p.Leu22656=)
c.94011T>A (p.Leu31337=)
c.89409T>A (p.Leu29803=)
c.89406T>A (p.Leu29802=)
c.86448T>A (p.Leu28816=)
c.68064T>A (p.Leu22688=)
c.89559T>A (p.Leu29853=)
c.89556T>A (p.Leu29852=)
c.88989T>A (p.Leu29663=)
c.86331T>A (p.Leu28777=)
c.86250T>A (p.Leu28750=)
c.68013T>A (p.Leu22671=)
c.57867T>A (p.Leu19289=)
2g.178546214A>CCA349466251TTN,TTN-AS1c.87413T>G (p.Leu29138Arg)
c.68498T>G (p.Leu22833Arg)
c.68297T>G (p.Leu22766Arg)
c.67922T>G (p.Leu22641Arg)
c.95117T>G (p.Leu31706Arg)
c.90194T>G (p.Leu30065Arg)
n.446+22578A>C
n.2043+3853A>C
c.94214T>G (p.Leu31405Arg)
c.68108T>G (p.Leu22703Arg)
c.67967T>G (p.Leu22656Arg)
c.94010T>G (p.Leu31337Arg)
c.89408T>G (p.Leu29803Arg)
c.89405T>G (p.Leu29802Arg)
c.86447T>G (p.Leu28816Arg)
c.68063T>G (p.Leu22688Arg)
c.89558T>G (p.Leu29853Arg)
c.89555T>G (p.Leu29852Arg)
c.88988T>G (p.Leu29663Arg)
c.86330T>G (p.Leu28777Arg)
c.86249T>G (p.Leu28750Arg)
c.68012T>G (p.Leu22671Arg)
c.57866T>G (p.Leu19289Arg)
2g.178546214A>GCA349466255TTN,TTN-AS1c.87413T>C (p.Leu29138Pro)
c.68498T>C (p.Leu22833Pro)
c.68297T>C (p.Leu22766Pro)
c.67922T>C (p.Leu22641Pro)
c.95117T>C (p.Leu31706Pro)
c.90194T>C (p.Leu30065Pro)
n.446+22578A>G
n.2043+3853A>G
c.94214T>C (p.Leu31405Pro)
c.68108T>C (p.Leu22703Pro)
c.67967T>C (p.Leu22656Pro)
c.94010T>C (p.Leu31337Pro)
c.89408T>C (p.Leu29803Pro)
c.89405T>C (p.Leu29802Pro)
c.86447T>C (p.Leu28816Pro)
c.68063T>C (p.Leu22688Pro)
c.89558T>C (p.Leu29853Pro)
c.89555T>C (p.Leu29852Pro)
c.88988T>C (p.Leu29663Pro)
c.86330T>C (p.Leu28777Pro)
c.86249T>C (p.Leu28750Pro)
c.68012T>C (p.Leu22671Pro)
c.57866T>C (p.Leu19289Pro)
2g.178546214A>TCA349466257TTN,TTN-AS1c.87413T>A (p.Leu29138His)
c.68498T>A (p.Leu22833His)
c.68297T>A (p.Leu22766His)
c.67922T>A (p.Leu22641His)
c.95117T>A (p.Leu31706His)
c.90194T>A (p.Leu30065His)
n.446+22578A>T
n.2043+3853A>T
c.94214T>A (p.Leu31405His)
c.68108T>A (p.Leu22703His)
c.67967T>A (p.Leu22656His)
c.94010T>A (p.Leu31337His)
c.89408T>A (p.Leu29803His)
c.89405T>A (p.Leu29802His)
c.86447T>A (p.Leu28816His)
c.68063T>A (p.Leu22688His)
c.89558T>A (p.Leu29853His)
c.89555T>A (p.Leu29852His)
c.88988T>A (p.Leu29663His)
c.86330T>A (p.Leu28777His)
c.86249T>A (p.Leu28750His)
c.68012T>A (p.Leu22671His)
c.57866T>A (p.Leu19289His)
2g.178546215G>ACA349466263TTN,TTN-AS1c.87412C>T (p.Leu29138Phe)
c.68497C>T (p.Leu22833Phe)
c.68296C>T (p.Leu22766Phe)
c.67921C>T (p.Leu22641Phe)
c.95116C>T (p.Leu31706Phe)
c.90193C>T (p.Leu30065Phe)
n.446+22579G>A
n.2043+3854G>A
c.94213C>T (p.Leu31405Phe)
c.68107C>T (p.Leu22703Phe)
c.67966C>T (p.Leu22656Phe)
c.94009C>T (p.Leu31337Phe)
c.89407C>T (p.Leu29803Phe)
c.89404C>T (p.Leu29802Phe)
c.86446C>T (p.Leu28816Phe)
c.68062C>T (p.Leu22688Phe)
c.89557C>T (p.Leu29853Phe)
c.89554C>T (p.Leu29852Phe)
c.88987C>T (p.Leu29663Phe)
c.86329C>T (p.Leu28777Phe)
c.86248C>T (p.Leu28750Phe)
c.68011C>T (p.Leu22671Phe)
c.57865C>T (p.Leu19289Phe)
 dbSNP gnomAD v2
2g.178546215G>CCA349466270TTN,TTN-AS1c.87412C>G (p.Leu29138Val)
c.68497C>G (p.Leu22833Val)
c.68296C>G (p.Leu22766Val)
c.67921C>G (p.Leu22641Val)
c.95116C>G (p.Leu31706Val)
c.90193C>G (p.Leu30065Val)
n.446+22579G>C
n.2043+3854G>C
c.94213C>G (p.Leu31405Val)
c.68107C>G (p.Leu22703Val)
c.67966C>G (p.Leu22656Val)
c.94009C>G (p.Leu31337Val)
c.89407C>G (p.Leu29803Val)
c.89404C>G (p.Leu29802Val)
c.86446C>G (p.Leu28816Val)
c.68062C>G (p.Leu22688Val)
c.89557C>G (p.Leu29853Val)
c.89554C>G (p.Leu29852Val)
c.88987C>G (p.Leu29663Val)
c.86329C>G (p.Leu28777Val)
c.86248C>G (p.Leu28750Val)
c.68011C>G (p.Leu22671Val)
c.57865C>G (p.Leu19289Val)
2g.178546215G=CA1310522847TTN,TTN-AS1c.87412C= (p.Leu29138=)
c.68497C= (p.Leu22833=)
c.68296C= (p.Leu22766=)
c.67921C= (p.Leu22641=)
c.95116C= (p.Leu31706=)
c.90193C= (p.Leu30065=)
n.446+22579G=
n.2043+3854G=
c.94213C= (p.Leu31405=)
c.68107C= (p.Leu22703=)
c.67966C= (p.Leu22656=)
c.94009C= (p.Leu31337=)
c.89407C= (p.Leu29803=)
c.89404C= (p.Leu29802=)
c.86446C= (p.Leu28816=)
c.68062C= (p.Leu22688=)
c.89557C= (p.Leu29853=)
c.89554C= (p.Leu29852=)
c.88987C= (p.Leu29663=)
c.86329C= (p.Leu28777=)
c.86248C= (p.Leu28750=)
c.68011C= (p.Leu22671=)
c.57865C= (p.Leu19289=)
2g.178546215G>TCA349466271TTN,TTN-AS1c.87412C>A (p.Leu29138Ile)
c.68497C>A (p.Leu22833Ile)
c.68296C>A (p.Leu22766Ile)
c.67921C>A (p.Leu22641Ile)
c.95116C>A (p.Leu31706Ile)
c.90193C>A (p.Leu30065Ile)
n.446+22579G>T
n.2043+3854G>T
c.94213C>A (p.Leu31405Ile)
c.68107C>A (p.Leu22703Ile)
c.67966C>A (p.Leu22656Ile)
c.94009C>A (p.Leu31337Ile)
c.89407C>A (p.Leu29803Ile)
c.89404C>A (p.Leu29802Ile)
c.86446C>A (p.Leu28816Ile)
c.68062C>A (p.Leu22688Ile)
c.89557C>A (p.Leu29853Ile)
c.89554C>A (p.Leu29852Ile)
c.88987C>A (p.Leu29663Ile)
c.86329C>A (p.Leu28777Ile)
c.86248C>A (p.Leu28750Ile)
c.68011C>A (p.Leu22671Ile)
c.57865C>A (p.Leu19289Ile)
 gnomAD v4
2g.178546216delCA2753330733TTN,TTN-AS1c.87411del (p.Asp29139IlefsTer14)
c.68496del (p.Asp22834IlefsTer14)
c.68295del (p.Asp22767IlefsTer14)
c.67920del (p.Asp22642IlefsTer14)
c.95115del (p.Asp31707IlefsTer14)
c.90192del (p.Asp30066IlefsTer14)
n.446+22580del
n.2043+3855del
c.94212del (p.Asp31406IlefsTer14)
c.68106del (p.Asp22704IlefsTer14)
c.67965del (p.Asp22657IlefsTer14)
c.94008del (p.Asp31338IlefsTer14)
c.89406del (p.Asp29804IlefsTer14)
c.89403del (p.Asp29803IlefsTer14)
c.86445del (p.Asp28817IlefsTer14)
c.68061del (p.Asp22689IlefsTer14)
c.89556del (p.Asp29854IlefsTer14)
c.89553del (p.Asp29853IlefsTer14)
c.88986del (p.Asp29664IlefsTer14)
c.86328del (p.Asp28778IlefsTer14)
c.86247del (p.Asp28751IlefsTer14)
c.68010del (p.Asp22672IlefsTer14)
c.57864del (p.Asp19290IlefsTer14)
2g.178546216C>ACA430242043TTN,TTN-AS1c.87411G>T (p.Val29137=)
c.68496G>T (p.Val22832=)
c.68295G>T (p.Val22765=)
c.67920G>T (p.Val22640=)
c.95115G>T (p.Val31705=)
c.90192G>T (p.Val30064=)
n.446+22580C>A
n.2043+3855C>A
c.94212G>T (p.Val31404=)
c.68106G>T (p.Val22702=)
c.67965G>T (p.Val22655=)
c.94008G>T (p.Val31336=)
c.89406G>T (p.Val29802=)
c.89403G>T (p.Val29801=)
c.86445G>T (p.Val28815=)
c.68061G>T (p.Val22687=)
c.89556G>T (p.Val29852=)
c.89553G>T (p.Val29851=)
c.88986G>T (p.Val29662=)
c.86328G>T (p.Val28776=)
c.86247G>T (p.Val28749=)
c.68010G>T (p.Val22670=)
c.57864G>T (p.Val19288=)
 gnomAD v4
2g.178546216C>GCA430242044TTN,TTN-AS1c.87411G>C (p.Val29137=)
c.68496G>C (p.Val22832=)
c.68295G>C (p.Val22765=)
c.67920G>C (p.Val22640=)
c.95115G>C (p.Val31705=)
c.90192G>C (p.Val30064=)
n.446+22580C>G
n.2043+3855C>G
c.94212G>C (p.Val31404=)
c.68106G>C (p.Val22702=)
c.67965G>C (p.Val22655=)
c.94008G>C (p.Val31336=)
c.89406G>C (p.Val29802=)
c.89403G>C (p.Val29801=)
c.86445G>C (p.Val28815=)
c.68061G>C (p.Val22687=)
c.89556G>C (p.Val29852=)
c.89553G>C (p.Val29851=)
c.88986G>C (p.Val29662=)
c.86328G>C (p.Val28776=)
c.86247G>C (p.Val28749=)
c.68010G>C (p.Val22670=)
c.57864G>C (p.Val19288=)
2g.178546216C>TCA430242046TTN,TTN-AS1c.87411G>A (p.Val29137=)
c.68496G>A (p.Val22832=)
c.68295G>A (p.Val22765=)
c.67920G>A (p.Val22640=)
c.95115G>A (p.Val31705=)
c.90192G>A (p.Val30064=)
n.446+22580C>T
n.2043+3855C>T
c.94212G>A (p.Val31404=)
c.68106G>A (p.Val22702=)
c.67965G>A (p.Val22655=)
c.94008G>A (p.Val31336=)
c.89406G>A (p.Val29802=)
c.89403G>A (p.Val29801=)
c.86445G>A (p.Val28815=)
c.68061G>A (p.Val22687=)
c.89556G>A (p.Val29852=)
c.89553G>A (p.Val29851=)
c.88986G>A (p.Val29662=)
c.86328G>A (p.Val28776=)
c.86247G>A (p.Val28749=)
c.68010G>A (p.Val22670=)
c.57864G>A (p.Val19288=)
2g.178546217A>CCA349466274TTN,TTN-AS1c.87410T>G (p.Val29137Gly)
c.68495T>G (p.Val22832Gly)
c.68294T>G (p.Val22765Gly)
c.67919T>G (p.Val22640Gly)
c.95114T>G (p.Val31705Gly)
c.90191T>G (p.Val30064Gly)
n.446+22581A>C
n.2043+3856A>C
c.94211T>G (p.Val31404Gly)
c.68105T>G (p.Val22702Gly)
c.67964T>G (p.Val22655Gly)
c.94007T>G (p.Val31336Gly)
c.89405T>G (p.Val29802Gly)
c.89402T>G (p.Val29801Gly)
c.86444T>G (p.Val28815Gly)
c.68060T>G (p.Val22687Gly)
c.89555T>G (p.Val29852Gly)
c.89552T>G (p.Val29851Gly)
c.88985T>G (p.Val29662Gly)
c.86327T>G (p.Val28776Gly)
c.86246T>G (p.Val28749Gly)
c.68009T>G (p.Val22670Gly)
c.57863T>G (p.Val19288Gly)
2g.178546217A>GCA349466284TTN,TTN-AS1c.87410T>C (p.Val29137Ala)
c.68495T>C (p.Val22832Ala)
c.68294T>C (p.Val22765Ala)
c.67919T>C (p.Val22640Ala)
c.95114T>C (p.Val31705Ala)
c.90191T>C (p.Val30064Ala)
n.446+22581A>G
n.2043+3856A>G
c.94211T>C (p.Val31404Ala)
c.68105T>C (p.Val22702Ala)
c.67964T>C (p.Val22655Ala)
c.94007T>C (p.Val31336Ala)
c.89405T>C (p.Val29802Ala)
c.89402T>C (p.Val29801Ala)
c.86444T>C (p.Val28815Ala)
c.68060T>C (p.Val22687Ala)
c.89555T>C (p.Val29852Ala)
c.89552T>C (p.Val29851Ala)
c.88985T>C (p.Val29662Ala)
c.86327T>C (p.Val28776Ala)
c.86246T>C (p.Val28749Ala)
c.68009T>C (p.Val22670Ala)
c.57863T>C (p.Val19288Ala)
 gnomAD v4
2g.178546217A>TCA349466277TTN,TTN-AS1c.87410T>A (p.Val29137Glu)
c.68495T>A (p.Val22832Glu)
c.68294T>A (p.Val22765Glu)
c.67919T>A (p.Val22640Glu)
c.95114T>A (p.Val31705Glu)
c.90191T>A (p.Val30064Glu)
n.446+22581A>T
n.2043+3856A>T
c.94211T>A (p.Val31404Glu)
c.68105T>A (p.Val22702Glu)
c.67964T>A (p.Val22655Glu)
c.94007T>A (p.Val31336Glu)
c.89405T>A (p.Val29802Glu)
c.89402T>A (p.Val29801Glu)
c.86444T>A (p.Val28815Glu)
c.68060T>A (p.Val22687Glu)
c.89555T>A (p.Val29852Glu)
c.89552T>A (p.Val29851Glu)
c.88985T>A (p.Val29662Glu)
c.86327T>A (p.Val28776Glu)
c.86246T>A (p.Val28749Glu)
c.68009T>A (p.Val22670Glu)
c.57863T>A (p.Val19288Glu)
2g.178546218C>ACA349466289TTN,TTN-AS1c.87409G>T (p.Val29137Leu)
c.68494G>T (p.Val22832Leu)
c.68293G>T (p.Val22765Leu)
c.67918G>T (p.Val22640Leu)
c.95113G>T (p.Val31705Leu)
c.90190G>T (p.Val30064Leu)
n.446+22582C>A
n.2043+3857C>A
c.94210G>T (p.Val31404Leu)
c.68104G>T (p.Val22702Leu)
c.67963G>T (p.Val22655Leu)
c.94006G>T (p.Val31336Leu)
c.89404G>T (p.Val29802Leu)
c.89401G>T (p.Val29801Leu)
c.86443G>T (p.Val28815Leu)
c.68059G>T (p.Val22687Leu)
c.89554G>T (p.Val29852Leu)
c.89551G>T (p.Val29851Leu)
c.88984G>T (p.Val29662Leu)
c.86326G>T (p.Val28776Leu)
c.86245G>T (p.Val28749Leu)
c.68008G>T (p.Val22670Leu)
c.57862G>T (p.Val19288Leu)
2g.178546218C>GCA349466292TTN,TTN-AS1c.87409G>C (p.Val29137Leu)
c.68494G>C (p.Val22832Leu)
c.68293G>C (p.Val22765Leu)
c.67918G>C (p.Val22640Leu)
c.95113G>C (p.Val31705Leu)
c.90190G>C (p.Val30064Leu)
n.446+22582C>G
n.2043+3857C>G
c.94210G>C (p.Val31404Leu)
c.68104G>C (p.Val22702Leu)
c.67963G>C (p.Val22655Leu)
c.94006G>C (p.Val31336Leu)
c.89404G>C (p.Val29802Leu)
c.89401G>C (p.Val29801Leu)
c.86443G>C (p.Val28815Leu)
c.68059G>C (p.Val22687Leu)
c.89554G>C (p.Val29852Leu)
c.89551G>C (p.Val29851Leu)
c.88984G>C (p.Val29662Leu)
c.86326G>C (p.Val28776Leu)
c.86245G>C (p.Val28749Leu)
c.68008G>C (p.Val22670Leu)
c.57862G>C (p.Val19288Leu)
 gnomAD v4
2g.178546218C>TCA349466299TTN,TTN-AS1c.87409G>A (p.Val29137Met)
c.68494G>A (p.Val22832Met)
c.68293G>A (p.Val22765Met)
c.67918G>A (p.Val22640Met)
c.95113G>A (p.Val31705Met)
c.90190G>A (p.Val30064Met)
n.446+22582C>T
n.2043+3857C>T
c.94210G>A (p.Val31404Met)
c.68104G>A (p.Val22702Met)
c.67963G>A (p.Val22655Met)
c.94006G>A (p.Val31336Met)
c.89404G>A (p.Val29802Met)
c.89401G>A (p.Val29801Met)
c.86443G>A (p.Val28815Met)
c.68059G>A (p.Val22687Met)
c.89554G>A (p.Val29852Met)
c.89551G>A (p.Val29851Met)
c.88984G>A (p.Val29662Met)
c.86326G>A (p.Val28776Met)
c.86245G>A (p.Val28749Met)
c.68008G>A (p.Val22670Met)
c.57862G>A (p.Val19288Met)
2g.178546219T>ACA349466302TTN,TTN-AS1c.87408A>T (p.Lys29136Asn)
c.68493A>T (p.Lys22831Asn)
c.68292A>T (p.Lys22764Asn)
c.67917A>T (p.Lys22639Asn)
c.95112A>T (p.Lys31704Asn)
c.90189A>T (p.Lys30063Asn)
n.446+22583T>A
n.2043+3858T>A
c.94209A>T (p.Lys31403Asn)
c.68103A>T (p.Lys22701Asn)
c.67962A>T (p.Lys22654Asn)
c.94005A>T (p.Lys31335Asn)
c.89403A>T (p.Lys29801Asn)
c.89400A>T (p.Lys29800Asn)
c.86442A>T (p.Lys28814Asn)
c.68058A>T (p.Lys22686Asn)
c.89553A>T (p.Lys29851Asn)
c.89550A>T (p.Lys29850Asn)
c.88983A>T (p.Lys29661Asn)
c.86325A>T (p.Lys28775Asn)
c.86244A>T (p.Lys28748Asn)
c.68007A>T (p.Lys22669Asn)
c.57861A>T (p.Lys19287Asn)
2g.178546219T>CCA430242049TTN,TTN-AS1c.87408A>G (p.Lys29136=)
c.68493A>G (p.Lys22831=)
c.68292A>G (p.Lys22764=)
c.67917A>G (p.Lys22639=)
c.95112A>G (p.Lys31704=)
c.90189A>G (p.Lys30063=)
n.446+22583T>C
n.2043+3858T>C
c.94209A>G (p.Lys31403=)
c.68103A>G (p.Lys22701=)
c.67962A>G (p.Lys22654=)
c.94005A>G (p.Lys31335=)
c.89403A>G (p.Lys29801=)
c.89400A>G (p.Lys29800=)
c.86442A>G (p.Lys28814=)
c.68058A>G (p.Lys22686=)
c.89553A>G (p.Lys29851=)
c.89550A>G (p.Lys29850=)
c.88983A>G (p.Lys29661=)
c.86325A>G (p.Lys28775=)
c.86244A>G (p.Lys28748=)
c.68007A>G (p.Lys22669=)
c.57861A>G (p.Lys19287=)
2g.178546219T>GCA349466303TTN,TTN-AS1c.87408A>C (p.Lys29136Asn)
c.68493A>C (p.Lys22831Asn)
c.68292A>C (p.Lys22764Asn)
c.67917A>C (p.Lys22639Asn)
c.95112A>C (p.Lys31704Asn)
c.90189A>C (p.Lys30063Asn)
n.446+22583T>G
n.2043+3858T>G
c.94209A>C (p.Lys31403Asn)
c.68103A>C (p.Lys22701Asn)
c.67962A>C (p.Lys22654Asn)
c.94005A>C (p.Lys31335Asn)
c.89403A>C (p.Lys29801Asn)
c.89400A>C (p.Lys29800Asn)
c.86442A>C (p.Lys28814Asn)
c.68058A>C (p.Lys22686Asn)
c.89553A>C (p.Lys29851Asn)
c.89550A>C (p.Lys29850Asn)
c.88983A>C (p.Lys29661Asn)
c.86325A>C (p.Lys28775Asn)
c.86244A>C (p.Lys28748Asn)
c.68007A>C (p.Lys22669Asn)
c.57861A>C (p.Lys19287Asn)
2g.178546220T>ACA349466305TTN,TTN-AS1c.87407A>T (p.Lys29136Ile)
c.68492A>T (p.Lys22831Ile)
c.68291A>T (p.Lys22764Ile)
c.67916A>T (p.Lys22639Ile)
c.95111A>T (p.Lys31704Ile)
c.90188A>T (p.Lys30063Ile)
n.446+22584T>A
n.2043+3859T>A
c.94208A>T (p.Lys31403Ile)
c.68102A>T (p.Lys22701Ile)
c.67961A>T (p.Lys22654Ile)
c.94004A>T (p.Lys31335Ile)
c.89402A>T (p.Lys29801Ile)
c.89399A>T (p.Lys29800Ile)
c.86441A>T (p.Lys28814Ile)
c.68057A>T (p.Lys22686Ile)
c.89552A>T (p.Lys29851Ile)
c.89549A>T (p.Lys29850Ile)
c.88982A>T (p.Lys29661Ile)
c.86324A>T (p.Lys28775Ile)
c.86243A>T (p.Lys28748Ile)
c.68006A>T (p.Lys22669Ile)
c.57860A>T (p.Lys19287Ile)
2g.178546220T>CCA1987017TTN,TTN-AS1c.87407A>G (p.Lys29136Arg)
c.68492A>G (p.Lys22831Arg)
c.68291A>G (p.Lys22764Arg)
c.67916A>G (p.Lys22639Arg)
c.95111A>G (p.Lys31704Arg)
c.90188A>G (p.Lys30063Arg)
n.446+22584T>C
n.2043+3859T>C
c.94208A>G (p.Lys31403Arg)
c.68102A>G (p.Lys22701Arg)
c.67961A>G (p.Lys22654Arg)
c.94004A>G (p.Lys31335Arg)
c.89402A>G (p.Lys29801Arg)
c.89399A>G (p.Lys29800Arg)
c.86441A>G (p.Lys28814Arg)
c.68057A>G (p.Lys22686Arg)
c.89552A>G (p.Lys29851Arg)
c.89549A>G (p.Lys29850Arg)
c.88982A>G (p.Lys29661Arg)
c.86324A>G (p.Lys28775Arg)
c.86243A>G (p.Lys28748Arg)
c.68006A>G (p.Lys22669Arg)
c.57860A>G (p.Lys19287Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178546220T>GCA349466308TTN,TTN-AS1c.87407A>C (p.Lys29136Thr)
c.68492A>C (p.Lys22831Thr)
c.68291A>C (p.Lys22764Thr)
c.67916A>C (p.Lys22639Thr)
c.95111A>C (p.Lys31704Thr)
c.90188A>C (p.Lys30063Thr)
n.446+22584T>G
n.2043+3859T>G
c.94208A>C (p.Lys31403Thr)
c.68102A>C (p.Lys22701Thr)
c.67961A>C (p.Lys22654Thr)
c.94004A>C (p.Lys31335Thr)
c.89402A>C (p.Lys29801Thr)
c.89399A>C (p.Lys29800Thr)
c.86441A>C (p.Lys28814Thr)
c.68057A>C (p.Lys22686Thr)
c.89552A>C (p.Lys29851Thr)
c.89549A>C (p.Lys29850Thr)
c.88982A>C (p.Lys29661Thr)
c.86324A>C (p.Lys28775Thr)
c.86243A>C (p.Lys28748Thr)
c.68006A>C (p.Lys22669Thr)
c.57860A>C (p.Lys19287Thr)
2g.178546220T=CA1310522849TTN,TTN-AS1c.87407A= (p.Lys29136=)
c.68492A= (p.Lys22831=)
c.68291A= (p.Lys22764=)
c.67916A= (p.Lys22639=)
c.95111A= (p.Lys31704=)
c.90188A= (p.Lys30063=)
n.446+22584T=
n.2043+3859T=
c.94208A= (p.Lys31403=)
c.68102A= (p.Lys22701=)
c.67961A= (p.Lys22654=)
c.94004A= (p.Lys31335=)
c.89402A= (p.Lys29801=)
c.89399A= (p.Lys29800=)
c.86441A= (p.Lys28814=)
c.68057A= (p.Lys22686=)
c.89552A= (p.Lys29851=)
c.89549A= (p.Lys29850=)
c.88982A= (p.Lys29661=)
c.86324A= (p.Lys28775=)
c.86243A= (p.Lys28748=)
c.68006A= (p.Lys22669=)
c.57860A= (p.Lys19287=)
2g.178546221T>ACA349466310TTN,TTN-AS1c.87406A>T (p.Lys29136Ter)
c.68491A>T (p.Lys22831Ter)
c.68290A>T (p.Lys22764Ter)
c.67915A>T (p.Lys22639Ter)
c.95110A>T (p.Lys31704Ter)
c.90187A>T (p.Lys30063Ter)
n.446+22585T>A
n.2043+3860T>A
c.94207A>T (p.Lys31403Ter)
c.68101A>T (p.Lys22701Ter)
c.67960A>T (p.Lys22654Ter)
c.94003A>T (p.Lys31335Ter)
c.89401A>T (p.Lys29801Ter)
c.89398A>T (p.Lys29800Ter)
c.86440A>T (p.Lys28814Ter)
c.68056A>T (p.Lys22686Ter)
c.89551A>T (p.Lys29851Ter)
c.89548A>T (p.Lys29850Ter)
c.88981A>T (p.Lys29661Ter)
c.86323A>T (p.Lys28775Ter)
c.86242A>T (p.Lys28748Ter)
c.68005A>T (p.Lys22669Ter)
c.57859A>T (p.Lys19287Ter)
2g.178546221T>CCA349466313TTN,TTN-AS1c.87406A>G (p.Lys29136Glu)
c.68491A>G (p.Lys22831Glu)
c.68290A>G (p.Lys22764Glu)
c.67915A>G (p.Lys22639Glu)
c.95110A>G (p.Lys31704Glu)
c.90187A>G (p.Lys30063Glu)
n.446+22585T>C
n.2043+3860T>C
c.94207A>G (p.Lys31403Glu)
c.68101A>G (p.Lys22701Glu)
c.67960A>G (p.Lys22654Glu)
c.94003A>G (p.Lys31335Glu)
c.89401A>G (p.Lys29801Glu)
c.89398A>G (p.Lys29800Glu)
c.86440A>G (p.Lys28814Glu)
c.68056A>G (p.Lys22686Glu)
c.89551A>G (p.Lys29851Glu)
c.89548A>G (p.Lys29850Glu)
c.88981A>G (p.Lys29661Glu)
c.86323A>G (p.Lys28775Glu)
c.86242A>G (p.Lys28748Glu)
c.68005A>G (p.Lys22669Glu)
c.57859A>G (p.Lys19287Glu)

Number of alleles fetched