Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178551581T>C | CA2662127064 | TTN,TTN-AS1 | c.83566+49A>G (n.83566+49A>G) c.64651+49A>G (n.64651+49A>G) c.64450+49A>G (n.64450+49A>G) c.64075+49A>G (n.64075+49A>G) c.91270+49A>G (n.91270+49A>G) c.86347+49A>G (n.86347+49A>G) n.447-19719T>C n.2043+9220T>C c.90367+49A>G (n.90367+49A>G) c.64261+49A>G (n.64261+49A>G) c.64120+49A>G (n.64120+49A>G) c.90163+49A>G (n.90163+49A>G) c.85561+49A>G (n.85561+49A>G) c.85558+49A>G (n.85558+49A>G) c.82600+49A>G (n.82600+49A>G) c.64216+49A>G (n.64216+49A>G) c.85711+49A>G (n.85711+49A>G) c.85708+49A>G (n.85708+49A>G) c.85141+49A>G (n.85141+49A>G) c.82483+49A>G (n.82483+49A>G) c.82402+49A>G (n.82402+49A>G) c.64165+49A>G (n.64165+49A>G) c.54019+49A>G (n.54019+49A>G) | gnomAD v4 |
2 | g.178551582A>C | CA2662127067 | TTN,TTN-AS1 | c.83566+48T>G (n.83566+48T>G) c.64651+48T>G (n.64651+48T>G) c.64450+48T>G (n.64450+48T>G) c.64075+48T>G (n.64075+48T>G) c.91270+48T>G (n.91270+48T>G) c.86347+48T>G (n.86347+48T>G) n.447-19718A>C n.2043+9221A>C c.90367+48T>G (n.90367+48T>G) c.64261+48T>G (n.64261+48T>G) c.64120+48T>G (n.64120+48T>G) c.90163+48T>G (n.90163+48T>G) c.85561+48T>G (n.85561+48T>G) c.85558+48T>G (n.85558+48T>G) c.82600+48T>G (n.82600+48T>G) c.64216+48T>G (n.64216+48T>G) c.85711+48T>G (n.85711+48T>G) c.85708+48T>G (n.85708+48T>G) c.85141+48T>G (n.85141+48T>G) c.82483+48T>G (n.82483+48T>G) c.82402+48T>G (n.82402+48T>G) c.64165+48T>G (n.64165+48T>G) c.54019+48T>G (n.54019+48T>G) | gnomAD v4 |
2 | g.178551582_178551583dup | CA2662127065 | TTN,TTN-AS1 | c.83566+47_83566+48dup (n.83566+47_83566+48dup) c.64651+47_64651+48dup (n.64651+47_64651+48dup) c.64450+47_64450+48dup (n.64450+47_64450+48dup) c.64075+47_64075+48dup (n.64075+47_64075+48dup) c.91270+47_91270+48dup (n.91270+47_91270+48dup) c.86347+47_86347+48dup (n.86347+47_86347+48dup) n.447-19718_447-19717dup n.2043+9221_2043+9222dup c.90367+47_90367+48dup (n.90367+47_90367+48dup) c.64261+47_64261+48dup (n.64261+47_64261+48dup) c.64120+47_64120+48dup (n.64120+47_64120+48dup) c.90163+47_90163+48dup (n.90163+47_90163+48dup) c.85561+47_85561+48dup (n.85561+47_85561+48dup) c.85558+47_85558+48dup (n.85558+47_85558+48dup) c.82600+47_82600+48dup (n.82600+47_82600+48dup) c.64216+47_64216+48dup (n.64216+47_64216+48dup) c.85711+47_85711+48dup (n.85711+47_85711+48dup) c.85708+47_85708+48dup (n.85708+47_85708+48dup) c.85141+47_85141+48dup (n.85141+47_85141+48dup) c.82483+47_82483+48dup (n.82483+47_82483+48dup) c.82402+47_82402+48dup (n.82402+47_82402+48dup) c.64165+47_64165+48dup (n.64165+47_64165+48dup) c.54019+47_54019+48dup (n.54019+47_54019+48dup) | gnomAD v4 |
2 | g.178551587G>C | CA2662127070 | TTN,TTN-AS1 | c.83566+43C>G (n.83566+43C>G) c.64651+43C>G (n.64651+43C>G) c.64450+43C>G (n.64450+43C>G) c.64075+43C>G (n.64075+43C>G) c.91270+43C>G (n.91270+43C>G) c.86347+43C>G (n.86347+43C>G) n.447-19713G>C n.2043+9226G>C c.90367+43C>G (n.90367+43C>G) c.64261+43C>G (n.64261+43C>G) c.64120+43C>G (n.64120+43C>G) c.90163+43C>G (n.90163+43C>G) c.85561+43C>G (n.85561+43C>G) c.85558+43C>G (n.85558+43C>G) c.82600+43C>G (n.82600+43C>G) c.64216+43C>G (n.64216+43C>G) c.85711+43C>G (n.85711+43C>G) c.85708+43C>G (n.85708+43C>G) c.85141+43C>G (n.85141+43C>G) c.82483+43C>G (n.82483+43C>G) c.82402+43C>G (n.82402+43C>G) c.64165+43C>G (n.64165+43C>G) c.54019+43C>G (n.54019+43C>G) | gnomAD v4 |
2 | g.178551587G>T | CA2577170417 | TTN,TTN-AS1 | c.83566+43C>A (n.83566+43C>A) c.64651+43C>A (n.64651+43C>A) c.64450+43C>A (n.64450+43C>A) c.64075+43C>A (n.64075+43C>A) c.91270+43C>A (n.91270+43C>A) c.86347+43C>A (n.86347+43C>A) n.447-19713G>T n.2043+9226G>T c.90367+43C>A (n.90367+43C>A) c.64261+43C>A (n.64261+43C>A) c.64120+43C>A (n.64120+43C>A) c.90163+43C>A (n.90163+43C>A) c.85561+43C>A (n.85561+43C>A) c.85558+43C>A (n.85558+43C>A) c.82600+43C>A (n.82600+43C>A) c.64216+43C>A (n.64216+43C>A) c.85711+43C>A (n.85711+43C>A) c.85708+43C>A (n.85708+43C>A) c.85141+43C>A (n.85141+43C>A) c.82483+43C>A (n.82483+43C>A) c.82402+43C>A (n.82402+43C>A) c.64165+43C>A (n.64165+43C>A) c.54019+43C>A (n.54019+43C>A) | gnomAD v4 |
2 | g.178551589T>G | CA2662127072 | TTN,TTN-AS1 | c.83566+41A>C (n.83566+41A>C) c.64651+41A>C (n.64651+41A>C) c.64450+41A>C (n.64450+41A>C) c.64075+41A>C (n.64075+41A>C) c.91270+41A>C (n.91270+41A>C) c.86347+41A>C (n.86347+41A>C) n.447-19711T>G n.2043+9228T>G c.90367+41A>C (n.90367+41A>C) c.64261+41A>C (n.64261+41A>C) c.64120+41A>C (n.64120+41A>C) c.90163+41A>C (n.90163+41A>C) c.85561+41A>C (n.85561+41A>C) c.85558+41A>C (n.85558+41A>C) c.82600+41A>C (n.82600+41A>C) c.64216+41A>C (n.64216+41A>C) c.85711+41A>C (n.85711+41A>C) c.85708+41A>C (n.85708+41A>C) c.85141+41A>C (n.85141+41A>C) c.82483+41A>C (n.82483+41A>C) c.82402+41A>C (n.82402+41A>C) c.64165+41A>C (n.64165+41A>C) c.54019+41A>C (n.54019+41A>C) | gnomAD v4 |
2 | g.178551590C>A | CA2662127074 | TTN,TTN-AS1 | c.83566+40G>T (n.83566+40G>T) c.64651+40G>T (n.64651+40G>T) c.64450+40G>T (n.64450+40G>T) c.64075+40G>T (n.64075+40G>T) c.91270+40G>T (n.91270+40G>T) c.86347+40G>T (n.86347+40G>T) n.447-19710C>A n.2043+9229C>A c.90367+40G>T (n.90367+40G>T) c.64261+40G>T (n.64261+40G>T) c.64120+40G>T (n.64120+40G>T) c.90163+40G>T (n.90163+40G>T) c.85561+40G>T (n.85561+40G>T) c.85558+40G>T (n.85558+40G>T) c.82600+40G>T (n.82600+40G>T) c.64216+40G>T (n.64216+40G>T) c.85711+40G>T (n.85711+40G>T) c.85708+40G>T (n.85708+40G>T) c.85141+40G>T (n.85141+40G>T) c.82483+40G>T (n.82483+40G>T) c.82402+40G>T (n.82402+40G>T) c.64165+40G>T (n.64165+40G>T) c.54019+40G>T (n.54019+40G>T) | gnomAD v4 |
2 | g.178551590C= | CA1310521102 | TTN,TTN-AS1 | c.83566+40G= (n.83566+40G=) c.64651+40G= (n.64651+40G=) c.64450+40G= (n.64450+40G=) c.64075+40G= (n.64075+40G=) c.91270+40G= (n.91270+40G=) c.86347+40G= (n.86347+40G=) n.447-19710C= n.2043+9229C= c.90367+40G= (n.90367+40G=) c.64261+40G= (n.64261+40G=) c.64120+40G= (n.64120+40G=) c.90163+40G= (n.90163+40G=) c.85561+40G= (n.85561+40G=) c.85558+40G= (n.85558+40G=) c.82600+40G= (n.82600+40G=) c.64216+40G= (n.64216+40G=) c.85711+40G= (n.85711+40G=) c.85708+40G= (n.85708+40G=) c.85141+40G= (n.85141+40G=) c.82483+40G= (n.82483+40G=) c.82402+40G= (n.82402+40G=) c.64165+40G= (n.64165+40G=) c.54019+40G= (n.54019+40G=) | |
2 | g.178551590C>T | CA1310521103 | TTN,TTN-AS1 | c.83566+40G>A (n.83566+40G>A) c.64651+40G>A (n.64651+40G>A) c.64450+40G>A (n.64450+40G>A) c.64075+40G>A (n.64075+40G>A) c.91270+40G>A (n.91270+40G>A) c.86347+40G>A (n.86347+40G>A) n.447-19710C>T n.2043+9229C>T c.90367+40G>A (n.90367+40G>A) c.64261+40G>A (n.64261+40G>A) c.64120+40G>A (n.64120+40G>A) c.90163+40G>A (n.90163+40G>A) c.85561+40G>A (n.85561+40G>A) c.85558+40G>A (n.85558+40G>A) c.82600+40G>A (n.82600+40G>A) c.64216+40G>A (n.64216+40G>A) c.85711+40G>A (n.85711+40G>A) c.85708+40G>A (n.85708+40G>A) c.85141+40G>A (n.85141+40G>A) c.82483+40G>A (n.82483+40G>A) c.82402+40G>A (n.82402+40G>A) c.64165+40G>A (n.64165+40G>A) c.54019+40G>A (n.54019+40G>A) | dbSNP |
2 | g.178551591A= | CA1310521104 | TTN,TTN-AS1 | c.83566+39T= (n.83566+39T=) c.64651+39T= (n.64651+39T=) c.64450+39T= (n.64450+39T=) c.64075+39T= (n.64075+39T=) c.91270+39T= (n.91270+39T=) c.86347+39T= (n.86347+39T=) n.447-19709A= n.2043+9230A= c.90367+39T= (n.90367+39T=) c.64261+39T= (n.64261+39T=) c.64120+39T= (n.64120+39T=) c.90163+39T= (n.90163+39T=) c.85561+39T= (n.85561+39T=) c.85558+39T= (n.85558+39T=) c.82600+39T= (n.82600+39T=) c.64216+39T= (n.64216+39T=) c.85711+39T= (n.85711+39T=) c.85708+39T= (n.85708+39T=) c.85141+39T= (n.85141+39T=) c.82483+39T= (n.82483+39T=) c.82402+39T= (n.82402+39T=) c.64165+39T= (n.64165+39T=) c.54019+39T= (n.54019+39T=) | |
2 | g.178551591A>G | CA538091245 | TTN,TTN-AS1 | c.83566+39T>C (n.83566+39T>C) c.64651+39T>C (n.64651+39T>C) c.64450+39T>C (n.64450+39T>C) c.64075+39T>C (n.64075+39T>C) c.91270+39T>C (n.91270+39T>C) c.86347+39T>C (n.86347+39T>C) n.447-19709A>G n.2043+9230A>G c.90367+39T>C (n.90367+39T>C) c.64261+39T>C (n.64261+39T>C) c.64120+39T>C (n.64120+39T>C) c.90163+39T>C (n.90163+39T>C) c.85561+39T>C (n.85561+39T>C) c.85558+39T>C (n.85558+39T>C) c.82600+39T>C (n.82600+39T>C) c.64216+39T>C (n.64216+39T>C) c.85711+39T>C (n.85711+39T>C) c.85708+39T>C (n.85708+39T>C) c.85141+39T>C (n.85141+39T>C) c.82483+39T>C (n.82483+39T>C) c.82402+39T>C (n.82402+39T>C) c.64165+39T>C (n.64165+39T>C) c.54019+39T>C (n.54019+39T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178551592A= | CA1310521106 | TTN,TTN-AS1 | c.83566+38T= (n.83566+38T=) c.64651+38T= (n.64651+38T=) c.64450+38T= (n.64450+38T=) c.64075+38T= (n.64075+38T=) c.91270+38T= (n.91270+38T=) c.86347+38T= (n.86347+38T=) n.447-19708A= n.2043+9231A= c.90367+38T= (n.90367+38T=) c.64261+38T= (n.64261+38T=) c.64120+38T= (n.64120+38T=) c.90163+38T= (n.90163+38T=) c.85561+38T= (n.85561+38T=) c.85558+38T= (n.85558+38T=) c.82600+38T= (n.82600+38T=) c.64216+38T= (n.64216+38T=) c.85711+38T= (n.85711+38T=) c.85708+38T= (n.85708+38T=) c.85141+38T= (n.85141+38T=) c.82483+38T= (n.82483+38T=) c.82402+38T= (n.82402+38T=) c.64165+38T= (n.64165+38T=) c.54019+38T= (n.54019+38T=) | |
2 | g.178551592A>G | CA1987661 | TTN,TTN-AS1 | c.83566+38T>C (n.83566+38T>C) c.64651+38T>C (n.64651+38T>C) c.64450+38T>C (n.64450+38T>C) c.64075+38T>C (n.64075+38T>C) c.91270+38T>C (n.91270+38T>C) c.86347+38T>C (n.86347+38T>C) n.447-19708A>G n.2043+9231A>G c.90367+38T>C (n.90367+38T>C) c.64261+38T>C (n.64261+38T>C) c.64120+38T>C (n.64120+38T>C) c.90163+38T>C (n.90163+38T>C) c.85561+38T>C (n.85561+38T>C) c.85558+38T>C (n.85558+38T>C) c.82600+38T>C (n.82600+38T>C) c.64216+38T>C (n.64216+38T>C) c.85711+38T>C (n.85711+38T>C) c.85708+38T>C (n.85708+38T>C) c.85141+38T>C (n.85141+38T>C) c.82483+38T>C (n.82483+38T>C) c.82402+38T>C (n.82402+38T>C) c.64165+38T>C (n.64165+38T>C) c.54019+38T>C (n.54019+38T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178551593T>C | CA1987662 | TTN,TTN-AS1 | c.83566+37A>G (n.83566+37A>G) c.64651+37A>G (n.64651+37A>G) c.64450+37A>G (n.64450+37A>G) c.64075+37A>G (n.64075+37A>G) c.91270+37A>G (n.91270+37A>G) c.86347+37A>G (n.86347+37A>G) n.447-19707T>C n.2043+9232T>C c.90367+37A>G (n.90367+37A>G) c.64261+37A>G (n.64261+37A>G) c.64120+37A>G (n.64120+37A>G) c.90163+37A>G (n.90163+37A>G) c.85561+37A>G (n.85561+37A>G) c.85558+37A>G (n.85558+37A>G) c.82600+37A>G (n.82600+37A>G) c.64216+37A>G (n.64216+37A>G) c.85711+37A>G (n.85711+37A>G) c.85708+37A>G (n.85708+37A>G) c.85141+37A>G (n.85141+37A>G) c.82483+37A>G (n.82483+37A>G) c.82402+37A>G (n.82402+37A>G) c.64165+37A>G (n.64165+37A>G) c.54019+37A>G (n.54019+37A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178551593T= | CA1310521108 | TTN,TTN-AS1 | c.83566+37A= (n.83566+37A=) c.64651+37A= (n.64651+37A=) c.64450+37A= (n.64450+37A=) c.64075+37A= (n.64075+37A=) c.91270+37A= (n.91270+37A=) c.86347+37A= (n.86347+37A=) n.447-19707T= n.2043+9232T= c.90367+37A= (n.90367+37A=) c.64261+37A= (n.64261+37A=) c.64120+37A= (n.64120+37A=) c.90163+37A= (n.90163+37A=) c.85561+37A= (n.85561+37A=) c.85558+37A= (n.85558+37A=) c.82600+37A= (n.82600+37A=) c.64216+37A= (n.64216+37A=) c.85711+37A= (n.85711+37A=) c.85708+37A= (n.85708+37A=) c.85141+37A= (n.85141+37A=) c.82483+37A= (n.82483+37A=) c.82402+37A= (n.82402+37A=) c.64165+37A= (n.64165+37A=) c.54019+37A= (n.54019+37A=) | |
2 | g.178551595G>A | CA538091246 | TTN,TTN-AS1 | c.83566+35C>T (n.83566+35C>T) c.64651+35C>T (n.64651+35C>T) c.64450+35C>T (n.64450+35C>T) c.64075+35C>T (n.64075+35C>T) c.91270+35C>T (n.91270+35C>T) c.86347+35C>T (n.86347+35C>T) n.447-19705G>A n.2043+9234G>A c.90367+35C>T (n.90367+35C>T) c.64261+35C>T (n.64261+35C>T) c.64120+35C>T (n.64120+35C>T) c.90163+35C>T (n.90163+35C>T) c.85561+35C>T (n.85561+35C>T) c.85558+35C>T (n.85558+35C>T) c.82600+35C>T (n.82600+35C>T) c.64216+35C>T (n.64216+35C>T) c.85711+35C>T (n.85711+35C>T) c.85708+35C>T (n.85708+35C>T) c.85141+35C>T (n.85141+35C>T) c.82483+35C>T (n.82483+35C>T) c.82402+35C>T (n.82402+35C>T) c.64165+35C>T (n.64165+35C>T) c.54019+35C>T (n.54019+35C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178551595G= | CA1310521110 | TTN,TTN-AS1 | c.83566+35C= (n.83566+35C=) c.64651+35C= (n.64651+35C=) c.64450+35C= (n.64450+35C=) c.64075+35C= (n.64075+35C=) c.91270+35C= (n.91270+35C=) c.86347+35C= (n.86347+35C=) n.447-19705G= n.2043+9234G= c.90367+35C= (n.90367+35C=) c.64261+35C= (n.64261+35C=) c.64120+35C= (n.64120+35C=) c.90163+35C= (n.90163+35C=) c.85561+35C= (n.85561+35C=) c.85558+35C= (n.85558+35C=) c.82600+35C= (n.82600+35C=) c.64216+35C= (n.64216+35C=) c.85711+35C= (n.85711+35C=) c.85708+35C= (n.85708+35C=) c.85141+35C= (n.85141+35C=) c.82483+35C= (n.82483+35C=) c.82402+35C= (n.82402+35C=) c.64165+35C= (n.64165+35C=) c.54019+35C= (n.54019+35C=) | |
2 | g.178551595G>T | CA2662127089 | TTN,TTN-AS1 | c.83566+35C>A (n.83566+35C>A) c.64651+35C>A (n.64651+35C>A) c.64450+35C>A (n.64450+35C>A) c.64075+35C>A (n.64075+35C>A) c.91270+35C>A (n.91270+35C>A) c.86347+35C>A (n.86347+35C>A) n.447-19705G>T n.2043+9234G>T c.90367+35C>A (n.90367+35C>A) c.64261+35C>A (n.64261+35C>A) c.64120+35C>A (n.64120+35C>A) c.90163+35C>A (n.90163+35C>A) c.85561+35C>A (n.85561+35C>A) c.85558+35C>A (n.85558+35C>A) c.82600+35C>A (n.82600+35C>A) c.64216+35C>A (n.64216+35C>A) c.85711+35C>A (n.85711+35C>A) c.85708+35C>A (n.85708+35C>A) c.85141+35C>A (n.85141+35C>A) c.82483+35C>A (n.82483+35C>A) c.82402+35C>A (n.82402+35C>A) c.64165+35C>A (n.64165+35C>A) c.54019+35C>A (n.54019+35C>A) | gnomAD v4 |
2 | g.178551598A>G | CA2577170418 | TTN,TTN-AS1 | c.83566+32T>C (n.83566+32T>C) c.64651+32T>C (n.64651+32T>C) c.64450+32T>C (n.64450+32T>C) c.64075+32T>C (n.64075+32T>C) c.91270+32T>C (n.91270+32T>C) c.86347+32T>C (n.86347+32T>C) n.447-19702A>G n.2043+9237A>G c.90367+32T>C (n.90367+32T>C) c.64261+32T>C (n.64261+32T>C) c.64120+32T>C (n.64120+32T>C) c.90163+32T>C (n.90163+32T>C) c.85561+32T>C (n.85561+32T>C) c.85558+32T>C (n.85558+32T>C) c.82600+32T>C (n.82600+32T>C) c.64216+32T>C (n.64216+32T>C) c.85711+32T>C (n.85711+32T>C) c.85708+32T>C (n.85708+32T>C) c.85141+32T>C (n.85141+32T>C) c.82483+32T>C (n.82483+32T>C) c.82402+32T>C (n.82402+32T>C) c.64165+32T>C (n.64165+32T>C) c.54019+32T>C (n.54019+32T>C) | gnomAD v4 |
2 | g.178551599A= | CA1310521111 | TTN,TTN-AS1 | c.83566+31T= (n.83566+31T=) c.64651+31T= (n.64651+31T=) c.64450+31T= (n.64450+31T=) c.64075+31T= (n.64075+31T=) c.91270+31T= (n.91270+31T=) c.86347+31T= (n.86347+31T=) n.447-19701A= n.2043+9238A= c.90367+31T= (n.90367+31T=) c.64261+31T= (n.64261+31T=) c.64120+31T= (n.64120+31T=) c.90163+31T= (n.90163+31T=) c.85561+31T= (n.85561+31T=) c.85558+31T= (n.85558+31T=) c.82600+31T= (n.82600+31T=) c.64216+31T= (n.64216+31T=) c.85711+31T= (n.85711+31T=) c.85708+31T= (n.85708+31T=) c.85141+31T= (n.85141+31T=) c.82483+31T= (n.82483+31T=) c.82402+31T= (n.82402+31T=) c.64165+31T= (n.64165+31T=) c.54019+31T= (n.54019+31T=) | |
2 | g.178551599A>C | CA1987663 | TTN,TTN-AS1 | c.83566+31T>G (n.83566+31T>G) c.64651+31T>G (n.64651+31T>G) c.64450+31T>G (n.64450+31T>G) c.64075+31T>G (n.64075+31T>G) c.91270+31T>G (n.91270+31T>G) c.86347+31T>G (n.86347+31T>G) n.447-19701A>C n.2043+9238A>C c.90367+31T>G (n.90367+31T>G) c.64261+31T>G (n.64261+31T>G) c.64120+31T>G (n.64120+31T>G) c.90163+31T>G (n.90163+31T>G) c.85561+31T>G (n.85561+31T>G) c.85558+31T>G (n.85558+31T>G) c.82600+31T>G (n.82600+31T>G) c.64216+31T>G (n.64216+31T>G) c.85711+31T>G (n.85711+31T>G) c.85708+31T>G (n.85708+31T>G) c.85141+31T>G (n.85141+31T>G) c.82483+31T>G (n.82483+31T>G) c.82402+31T>G (n.82402+31T>G) c.64165+31T>G (n.64165+31T>G) c.54019+31T>G (n.54019+31T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178551607G>A | CA2577170419 | TTN,TTN-AS1 | c.83566+23C>T (n.83566+23C>T) c.64651+23C>T (n.64651+23C>T) c.64450+23C>T (n.64450+23C>T) c.64075+23C>T (n.64075+23C>T) c.91270+23C>T (n.91270+23C>T) c.86347+23C>T (n.86347+23C>T) n.447-19693G>A n.2043+9246G>A c.90367+23C>T (n.90367+23C>T) c.64261+23C>T (n.64261+23C>T) c.64120+23C>T (n.64120+23C>T) c.90163+23C>T (n.90163+23C>T) c.85561+23C>T (n.85561+23C>T) c.85558+23C>T (n.85558+23C>T) c.82600+23C>T (n.82600+23C>T) c.64216+23C>T (n.64216+23C>T) c.85711+23C>T (n.85711+23C>T) c.85708+23C>T (n.85708+23C>T) c.85141+23C>T (n.85141+23C>T) c.82483+23C>T (n.82483+23C>T) c.82402+23C>T (n.82402+23C>T) c.64165+23C>T (n.64165+23C>T) c.54019+23C>T (n.54019+23C>T) | gnomAD v4 |
2 | g.178551607G>C | CA60977056 | TTN,TTN-AS1 | c.83566+23C>G (n.83566+23C>G) c.64651+23C>G (n.64651+23C>G) c.64450+23C>G (n.64450+23C>G) c.64075+23C>G (n.64075+23C>G) c.91270+23C>G (n.91270+23C>G) c.86347+23C>G (n.86347+23C>G) n.447-19693G>C n.2043+9246G>C c.90367+23C>G (n.90367+23C>G) c.64261+23C>G (n.64261+23C>G) c.64120+23C>G (n.64120+23C>G) c.90163+23C>G (n.90163+23C>G) c.85561+23C>G (n.85561+23C>G) c.85558+23C>G (n.85558+23C>G) c.82600+23C>G (n.82600+23C>G) c.64216+23C>G (n.64216+23C>G) c.85711+23C>G (n.85711+23C>G) c.85708+23C>G (n.85708+23C>G) c.85141+23C>G (n.85141+23C>G) c.82483+23C>G (n.82483+23C>G) c.82402+23C>G (n.82402+23C>G) c.64165+23C>G (n.64165+23C>G) c.54019+23C>G (n.54019+23C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178551607G= | CA1310521112 | TTN,TTN-AS1 | c.83566+23C= (n.83566+23C=) c.64651+23C= (n.64651+23C=) c.64450+23C= (n.64450+23C=) c.64075+23C= (n.64075+23C=) c.91270+23C= (n.91270+23C=) c.86347+23C= (n.86347+23C=) n.447-19693G= n.2043+9246G= c.90367+23C= (n.90367+23C=) c.64261+23C= (n.64261+23C=) c.64120+23C= (n.64120+23C=) c.90163+23C= (n.90163+23C=) c.85561+23C= (n.85561+23C=) c.85558+23C= (n.85558+23C=) c.82600+23C= (n.82600+23C=) c.64216+23C= (n.64216+23C=) c.85711+23C= (n.85711+23C=) c.85708+23C= (n.85708+23C=) c.85141+23C= (n.85141+23C=) c.82483+23C= (n.82483+23C=) c.82402+23C= (n.82402+23C=) c.64165+23C= (n.64165+23C=) c.54019+23C= (n.54019+23C=) | |
2 | g.178551613G>C | CA2662127111 | TTN,TTN-AS1 | c.83566+17C>G (n.83566+17C>G) c.64651+17C>G (n.64651+17C>G) c.64450+17C>G (n.64450+17C>G) c.64075+17C>G (n.64075+17C>G) c.91270+17C>G (n.91270+17C>G) c.86347+17C>G (n.86347+17C>G) n.447-19687G>C n.2043+9252G>C c.90367+17C>G (n.90367+17C>G) c.64261+17C>G (n.64261+17C>G) c.64120+17C>G (n.64120+17C>G) c.90163+17C>G (n.90163+17C>G) c.85561+17C>G (n.85561+17C>G) c.85558+17C>G (n.85558+17C>G) c.82600+17C>G (n.82600+17C>G) c.64216+17C>G (n.64216+17C>G) c.85711+17C>G (n.85711+17C>G) c.85708+17C>G (n.85708+17C>G) c.85141+17C>G (n.85141+17C>G) c.82483+17C>G (n.82483+17C>G) c.82402+17C>G (n.82402+17C>G) c.64165+17C>G (n.64165+17C>G) c.54019+17C>G (n.54019+17C>G) | gnomAD v4 |
2 | g.178551613G>T | CA2662127113 | TTN,TTN-AS1 | c.83566+17C>A (n.83566+17C>A) c.64651+17C>A (n.64651+17C>A) c.64450+17C>A (n.64450+17C>A) c.64075+17C>A (n.64075+17C>A) c.91270+17C>A (n.91270+17C>A) c.86347+17C>A (n.86347+17C>A) n.447-19687G>T n.2043+9252G>T c.90367+17C>A (n.90367+17C>A) c.64261+17C>A (n.64261+17C>A) c.64120+17C>A (n.64120+17C>A) c.90163+17C>A (n.90163+17C>A) c.85561+17C>A (n.85561+17C>A) c.85558+17C>A (n.85558+17C>A) c.82600+17C>A (n.82600+17C>A) c.64216+17C>A (n.64216+17C>A) c.85711+17C>A (n.85711+17C>A) c.85708+17C>A (n.85708+17C>A) c.85141+17C>A (n.85141+17C>A) c.82483+17C>A (n.82483+17C>A) c.82402+17C>A (n.82402+17C>A) c.64165+17C>A (n.64165+17C>A) c.54019+17C>A (n.54019+17C>A) | gnomAD v4 |
2 | g.178551615A= | CA1310521113 | TTN,TTN-AS1 | c.83566+15T= (n.83566+15T=) c.64651+15T= (n.64651+15T=) c.64450+15T= (n.64450+15T=) c.64075+15T= (n.64075+15T=) c.91270+15T= (n.91270+15T=) c.86347+15T= (n.86347+15T=) n.447-19685A= n.2043+9254A= c.90367+15T= (n.90367+15T=) c.64261+15T= (n.64261+15T=) c.64120+15T= (n.64120+15T=) c.90163+15T= (n.90163+15T=) c.85561+15T= (n.85561+15T=) c.85558+15T= (n.85558+15T=) c.82600+15T= (n.82600+15T=) c.64216+15T= (n.64216+15T=) c.85711+15T= (n.85711+15T=) c.85708+15T= (n.85708+15T=) c.85141+15T= (n.85141+15T=) c.82483+15T= (n.82483+15T=) c.82402+15T= (n.82402+15T=) c.64165+15T= (n.64165+15T=) c.54019+15T= (n.54019+15T=) | |
2 | g.178551615A>G | CA1987664 | TTN,TTN-AS1 | c.83566+15T>C (n.83566+15T>C) c.64651+15T>C (n.64651+15T>C) c.64450+15T>C (n.64450+15T>C) c.64075+15T>C (n.64075+15T>C) c.91270+15T>C (n.91270+15T>C) c.86347+15T>C (n.86347+15T>C) n.447-19685A>G n.2043+9254A>G c.90367+15T>C (n.90367+15T>C) c.64261+15T>C (n.64261+15T>C) c.64120+15T>C (n.64120+15T>C) c.90163+15T>C (n.90163+15T>C) c.85561+15T>C (n.85561+15T>C) c.85558+15T>C (n.85558+15T>C) c.82600+15T>C (n.82600+15T>C) c.64216+15T>C (n.64216+15T>C) c.85711+15T>C (n.85711+15T>C) c.85708+15T>C (n.85708+15T>C) c.85141+15T>C (n.85141+15T>C) c.82483+15T>C (n.82483+15T>C) c.82402+15T>C (n.82402+15T>C) c.64165+15T>C (n.64165+15T>C) c.54019+15T>C (n.54019+15T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178551617A>C | CA2577170420 | TTN,TTN-AS1 | c.83566+13T>G (n.83566+13T>G) c.64651+13T>G (n.64651+13T>G) c.64450+13T>G (n.64450+13T>G) c.64075+13T>G (n.64075+13T>G) c.91270+13T>G (n.91270+13T>G) c.86347+13T>G (n.86347+13T>G) n.447-19683A>C n.2043+9256A>C c.90367+13T>G (n.90367+13T>G) c.64261+13T>G (n.64261+13T>G) c.64120+13T>G (n.64120+13T>G) c.90163+13T>G (n.90163+13T>G) c.85561+13T>G (n.85561+13T>G) c.85558+13T>G (n.85558+13T>G) c.82600+13T>G (n.82600+13T>G) c.64216+13T>G (n.64216+13T>G) c.85711+13T>G (n.85711+13T>G) c.85708+13T>G (n.85708+13T>G) c.85141+13T>G (n.85141+13T>G) c.82483+13T>G (n.82483+13T>G) c.82402+13T>G (n.82402+13T>G) c.64165+13T>G (n.64165+13T>G) c.54019+13T>G (n.54019+13T>G) | ClinVar |
2 | g.178551619T>C | CA2662127117 | TTN,TTN-AS1 | c.83566+11A>G (n.83566+11A>G) c.64651+11A>G (n.64651+11A>G) c.64450+11A>G (n.64450+11A>G) c.64075+11A>G (n.64075+11A>G) c.91270+11A>G (n.91270+11A>G) c.86347+11A>G (n.86347+11A>G) n.447-19681T>C n.2043+9258T>C c.90367+11A>G (n.90367+11A>G) c.64261+11A>G (n.64261+11A>G) c.64120+11A>G (n.64120+11A>G) c.90163+11A>G (n.90163+11A>G) c.85561+11A>G (n.85561+11A>G) c.85558+11A>G (n.85558+11A>G) c.82600+11A>G (n.82600+11A>G) c.64216+11A>G (n.64216+11A>G) c.85711+11A>G (n.85711+11A>G) c.85708+11A>G (n.85708+11A>G) c.85141+11A>G (n.85141+11A>G) c.82483+11A>G (n.82483+11A>G) c.82402+11A>G (n.82402+11A>G) c.64165+11A>G (n.64165+11A>G) c.54019+11A>G (n.54019+11A>G) | gnomAD v4 |
2 | g.178551621A= | CA1310521114 | TTN,TTN-AS1 | c.83566+9T= (n.83566+9T=) c.64651+9T= (n.64651+9T=) c.64450+9T= (n.64450+9T=) c.64075+9T= (n.64075+9T=) c.91270+9T= (n.91270+9T=) c.86347+9T= (n.86347+9T=) n.447-19679A= n.2043+9260A= c.90367+9T= (n.90367+9T=) c.64261+9T= (n.64261+9T=) c.64120+9T= (n.64120+9T=) c.90163+9T= (n.90163+9T=) c.85561+9T= (n.85561+9T=) c.85558+9T= (n.85558+9T=) c.82600+9T= (n.82600+9T=) c.64216+9T= (n.64216+9T=) c.85711+9T= (n.85711+9T=) c.85708+9T= (n.85708+9T=) c.85141+9T= (n.85141+9T=) c.82483+9T= (n.82483+9T=) c.82402+9T= (n.82402+9T=) c.64165+9T= (n.64165+9T=) c.54019+9T= (n.54019+9T=) | |
2 | g.178551621A>C | CA1310521115 | TTN,TTN-AS1 | c.83566+9T>G (n.83566+9T>G) c.64651+9T>G (n.64651+9T>G) c.64450+9T>G (n.64450+9T>G) c.64075+9T>G (n.64075+9T>G) c.91270+9T>G (n.91270+9T>G) c.86347+9T>G (n.86347+9T>G) n.447-19679A>C n.2043+9260A>C c.90367+9T>G (n.90367+9T>G) c.64261+9T>G (n.64261+9T>G) c.64120+9T>G (n.64120+9T>G) c.90163+9T>G (n.90163+9T>G) c.85561+9T>G (n.85561+9T>G) c.85558+9T>G (n.85558+9T>G) c.82600+9T>G (n.82600+9T>G) c.64216+9T>G (n.64216+9T>G) c.85711+9T>G (n.85711+9T>G) c.85708+9T>G (n.85708+9T>G) c.85141+9T>G (n.85141+9T>G) c.82483+9T>G (n.82483+9T>G) c.82402+9T>G (n.82402+9T>G) c.64165+9T>G (n.64165+9T>G) c.54019+9T>G (n.54019+9T>G) | dbSNP |
2 | g.178551621A>G | CA2580064766 | TTN,TTN-AS1 | c.83566+9T>C (n.83566+9T>C) c.64651+9T>C (n.64651+9T>C) c.64450+9T>C (n.64450+9T>C) c.64075+9T>C (n.64075+9T>C) c.91270+9T>C (n.91270+9T>C) c.86347+9T>C (n.86347+9T>C) n.447-19679A>G n.2043+9260A>G c.90367+9T>C (n.90367+9T>C) c.64261+9T>C (n.64261+9T>C) c.64120+9T>C (n.64120+9T>C) c.90163+9T>C (n.90163+9T>C) c.85561+9T>C (n.85561+9T>C) c.85558+9T>C (n.85558+9T>C) c.82600+9T>C (n.82600+9T>C) c.64216+9T>C (n.64216+9T>C) c.85711+9T>C (n.85711+9T>C) c.85708+9T>C (n.85708+9T>C) c.85141+9T>C (n.85141+9T>C) c.82483+9T>C (n.82483+9T>C) c.82402+9T>C (n.82402+9T>C) c.64165+9T>C (n.64165+9T>C) c.54019+9T>C (n.54019+9T>C) | ClinVar gnomAD v4 |
2 | g.178551622T>A | CA2662127127 | TTN,TTN-AS1 | c.83566+8A>T (n.83566+8A>T) c.64651+8A>T (n.64651+8A>T) c.64450+8A>T (n.64450+8A>T) c.64075+8A>T (n.64075+8A>T) c.91270+8A>T (n.91270+8A>T) c.86347+8A>T (n.86347+8A>T) n.447-19678T>A n.2043+9261T>A c.90367+8A>T (n.90367+8A>T) c.64261+8A>T (n.64261+8A>T) c.64120+8A>T (n.64120+8A>T) c.90163+8A>T (n.90163+8A>T) c.85561+8A>T (n.85561+8A>T) c.85558+8A>T (n.85558+8A>T) c.82600+8A>T (n.82600+8A>T) c.64216+8A>T (n.64216+8A>T) c.85711+8A>T (n.85711+8A>T) c.85708+8A>T (n.85708+8A>T) c.85141+8A>T (n.85141+8A>T) c.82483+8A>T (n.82483+8A>T) c.82402+8A>T (n.82402+8A>T) c.64165+8A>T (n.64165+8A>T) c.54019+8A>T (n.54019+8A>T) | ClinVar gnomAD v4 |
2 | g.178551622T>C | CA2753331234 | TTN,TTN-AS1 | c.83566+8A>G (n.83566+8A>G) c.64651+8A>G (n.64651+8A>G) c.64450+8A>G (n.64450+8A>G) c.64075+8A>G (n.64075+8A>G) c.91270+8A>G (n.91270+8A>G) c.86347+8A>G (n.86347+8A>G) n.447-19678T>C n.2043+9261T>C c.90367+8A>G (n.90367+8A>G) c.64261+8A>G (n.64261+8A>G) c.64120+8A>G (n.64120+8A>G) c.90163+8A>G (n.90163+8A>G) c.85561+8A>G (n.85561+8A>G) c.85558+8A>G (n.85558+8A>G) c.82600+8A>G (n.82600+8A>G) c.64216+8A>G (n.64216+8A>G) c.85711+8A>G (n.85711+8A>G) c.85708+8A>G (n.85708+8A>G) c.85141+8A>G (n.85141+8A>G) c.82483+8A>G (n.82483+8A>G) c.82402+8A>G (n.82402+8A>G) c.64165+8A>G (n.64165+8A>G) c.54019+8A>G (n.54019+8A>G) | |
2 | g.178551623C>A | CA2570838913 | TTN,TTN-AS1 | c.83566+7G>T (n.83566+7G>T) c.64651+7G>T (n.64651+7G>T) c.64450+7G>T (n.64450+7G>T) c.64075+7G>T (n.64075+7G>T) c.91270+7G>T (n.91270+7G>T) c.86347+7G>T (n.86347+7G>T) n.447-19677C>A n.2043+9262C>A c.90367+7G>T (n.90367+7G>T) c.64261+7G>T (n.64261+7G>T) c.64120+7G>T (n.64120+7G>T) c.90163+7G>T (n.90163+7G>T) c.85561+7G>T (n.85561+7G>T) c.85558+7G>T (n.85558+7G>T) c.82600+7G>T (n.82600+7G>T) c.64216+7G>T (n.64216+7G>T) c.85711+7G>T (n.85711+7G>T) c.85708+7G>T (n.85708+7G>T) c.85141+7G>T (n.85141+7G>T) c.82483+7G>T (n.82483+7G>T) c.82402+7G>T (n.82402+7G>T) c.64165+7G>T (n.64165+7G>T) c.54019+7G>T (n.54019+7G>T) | ClinVar |
2 | g.178551624A= | CA1310521116 | TTN,TTN-AS1 | c.83566+6T= (n.83566+6T=) c.64651+6T= (n.64651+6T=) c.64450+6T= (n.64450+6T=) c.64075+6T= (n.64075+6T=) c.91270+6T= (n.91270+6T=) c.86347+6T= (n.86347+6T=) n.447-19676A= n.2043+9263A= c.90367+6T= (n.90367+6T=) c.64261+6T= (n.64261+6T=) c.64120+6T= (n.64120+6T=) c.90163+6T= (n.90163+6T=) c.85561+6T= (n.85561+6T=) c.85558+6T= (n.85558+6T=) c.82600+6T= (n.82600+6T=) c.64216+6T= (n.64216+6T=) c.85711+6T= (n.85711+6T=) c.85708+6T= (n.85708+6T=) c.85141+6T= (n.85141+6T=) c.82483+6T= (n.82483+6T=) c.82402+6T= (n.82402+6T=) c.64165+6T= (n.64165+6T=) c.54019+6T= (n.54019+6T=) | |
2 | g.178551624A>G | CA761285727 | TTN,TTN-AS1 | c.83566+6T>C (n.83566+6T>C) c.64651+6T>C (n.64651+6T>C) c.64450+6T>C (n.64450+6T>C) c.64075+6T>C (n.64075+6T>C) c.91270+6T>C (n.91270+6T>C) c.86347+6T>C (n.86347+6T>C) n.447-19676A>G n.2043+9263A>G c.90367+6T>C (n.90367+6T>C) c.64261+6T>C (n.64261+6T>C) c.64120+6T>C (n.64120+6T>C) c.90163+6T>C (n.90163+6T>C) c.85561+6T>C (n.85561+6T>C) c.85558+6T>C (n.85558+6T>C) c.82600+6T>C (n.82600+6T>C) c.64216+6T>C (n.64216+6T>C) c.85711+6T>C (n.85711+6T>C) c.85708+6T>C (n.85708+6T>C) c.85141+6T>C (n.85141+6T>C) c.82483+6T>C (n.82483+6T>C) c.82402+6T>C (n.82402+6T>C) c.64165+6T>C (n.64165+6T>C) c.54019+6T>C (n.54019+6T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178551625C>T | CA2499215316 | TTN,TTN-AS1 | c.83566+5G>A (n.83566+5G>A) c.64651+5G>A (n.64651+5G>A) c.64450+5G>A (n.64450+5G>A) c.64075+5G>A (n.64075+5G>A) c.91270+5G>A (n.91270+5G>A) c.86347+5G>A (n.86347+5G>A) n.447-19675C>T n.2043+9264C>T c.90367+5G>A (n.90367+5G>A) c.64261+5G>A (n.64261+5G>A) c.64120+5G>A (n.64120+5G>A) c.90163+5G>A (n.90163+5G>A) c.85561+5G>A (n.85561+5G>A) c.85558+5G>A (n.85558+5G>A) c.82600+5G>A (n.82600+5G>A) c.64216+5G>A (n.64216+5G>A) c.85711+5G>A (n.85711+5G>A) c.85708+5G>A (n.85708+5G>A) c.85141+5G>A (n.85141+5G>A) c.82483+5G>A (n.82483+5G>A) c.82402+5G>A (n.82402+5G>A) c.64165+5G>A (n.64165+5G>A) c.54019+5G>A (n.54019+5G>A) | ClinVar dbSNP |
2 | g.178551626T>C | CA1139657386 | TTN,TTN-AS1 | c.83566+4A>G (n.83566+4A>G) c.64651+4A>G (n.64651+4A>G) c.64450+4A>G (n.64450+4A>G) c.64075+4A>G (n.64075+4A>G) c.91270+4A>G (n.91270+4A>G) c.86347+4A>G (n.86347+4A>G) n.447-19674T>C n.2043+9265T>C c.90367+4A>G (n.90367+4A>G) c.64261+4A>G (n.64261+4A>G) c.64120+4A>G (n.64120+4A>G) c.90163+4A>G (n.90163+4A>G) c.85561+4A>G (n.85561+4A>G) c.85558+4A>G (n.85558+4A>G) c.82600+4A>G (n.82600+4A>G) c.64216+4A>G (n.64216+4A>G) c.85711+4A>G (n.85711+4A>G) c.85708+4A>G (n.85708+4A>G) c.85141+4A>G (n.85141+4A>G) c.82483+4A>G (n.82483+4A>G) c.82402+4A>G (n.82402+4A>G) c.64165+4A>G (n.64165+4A>G) c.54019+4A>G (n.54019+4A>G) | ClinVar dbSNP |
2 | g.178551626T= | CA1310521118 | TTN,TTN-AS1 | c.83566+4A= (n.83566+4A=) c.64651+4A= (n.64651+4A=) c.64450+4A= (n.64450+4A=) c.64075+4A= (n.64075+4A=) c.91270+4A= (n.91270+4A=) c.86347+4A= (n.86347+4A=) n.447-19674T= n.2043+9265T= c.90367+4A= (n.90367+4A=) c.64261+4A= (n.64261+4A=) c.64120+4A= (n.64120+4A=) c.90163+4A= (n.90163+4A=) c.85561+4A= (n.85561+4A=) c.85558+4A= (n.85558+4A=) c.82600+4A= (n.82600+4A=) c.64216+4A= (n.64216+4A=) c.85711+4A= (n.85711+4A=) c.85708+4A= (n.85708+4A=) c.85141+4A= (n.85141+4A=) c.82483+4A= (n.82483+4A=) c.82402+4A= (n.82402+4A=) c.64165+4A= (n.64165+4A=) c.54019+4A= (n.54019+4A=) | |
2 | g.178551628A= | CA1310521120 | TTN,TTN-AS1 | c.83566+2T= (n.83566+2T=) c.64651+2T= (n.64651+2T=) c.64450+2T= (n.64450+2T=) c.64075+2T= (n.64075+2T=) c.91270+2T= (n.91270+2T=) c.86347+2T= (n.86347+2T=) n.447-19672A= n.2043+9267A= c.90367+2T= (n.90367+2T=) c.64261+2T= (n.64261+2T=) c.64120+2T= (n.64120+2T=) c.90163+2T= (n.90163+2T=) c.85561+2T= (n.85561+2T=) c.85558+2T= (n.85558+2T=) c.82600+2T= (n.82600+2T=) c.64216+2T= (n.64216+2T=) c.85711+2T= (n.85711+2T=) c.85708+2T= (n.85708+2T=) c.85141+2T= (n.85141+2T=) c.82483+2T= (n.82483+2T=) c.82402+2T= (n.82402+2T=) c.64165+2T= (n.64165+2T=) c.54019+2T= (n.54019+2T=) | |
2 | g.178551628A>C | CA349502516 | TTN,TTN-AS1 | c.83566+2T>G (n.83566+2T>G) c.64651+2T>G (n.64651+2T>G) c.64450+2T>G (n.64450+2T>G) c.64075+2T>G (n.64075+2T>G) c.91270+2T>G (n.91270+2T>G) c.86347+2T>G (n.86347+2T>G) n.447-19672A>C n.2043+9267A>C c.90367+2T>G (n.90367+2T>G) c.64261+2T>G (n.64261+2T>G) c.64120+2T>G (n.64120+2T>G) c.90163+2T>G (n.90163+2T>G) c.85561+2T>G (n.85561+2T>G) c.85558+2T>G (n.85558+2T>G) c.82600+2T>G (n.82600+2T>G) c.64216+2T>G (n.64216+2T>G) c.85711+2T>G (n.85711+2T>G) c.85708+2T>G (n.85708+2T>G) c.85141+2T>G (n.85141+2T>G) c.82483+2T>G (n.82483+2T>G) c.82402+2T>G (n.82402+2T>G) c.64165+2T>G (n.64165+2T>G) c.54019+2T>G (n.54019+2T>G) | |
2 | g.178551628A>G | CA349502520 | TTN,TTN-AS1 | c.83566+2T>C (n.83566+2T>C) c.64651+2T>C (n.64651+2T>C) c.64450+2T>C (n.64450+2T>C) c.64075+2T>C (n.64075+2T>C) c.91270+2T>C (n.91270+2T>C) c.86347+2T>C (n.86347+2T>C) n.447-19672A>G n.2043+9267A>G c.90367+2T>C (n.90367+2T>C) c.64261+2T>C (n.64261+2T>C) c.64120+2T>C (n.64120+2T>C) c.90163+2T>C (n.90163+2T>C) c.85561+2T>C (n.85561+2T>C) c.85558+2T>C (n.85558+2T>C) c.82600+2T>C (n.82600+2T>C) c.64216+2T>C (n.64216+2T>C) c.85711+2T>C (n.85711+2T>C) c.85708+2T>C (n.85708+2T>C) c.85141+2T>C (n.85141+2T>C) c.82483+2T>C (n.82483+2T>C) c.82402+2T>C (n.82402+2T>C) c.64165+2T>C (n.64165+2T>C) c.54019+2T>C (n.54019+2T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178551628A>T | CA349502522 | TTN,TTN-AS1 | c.83566+2T>A (n.83566+2T>A) c.64651+2T>A (n.64651+2T>A) c.64450+2T>A (n.64450+2T>A) c.64075+2T>A (n.64075+2T>A) c.91270+2T>A (n.91270+2T>A) c.86347+2T>A (n.86347+2T>A) n.447-19672A>T n.2043+9267A>T c.90367+2T>A (n.90367+2T>A) c.64261+2T>A (n.64261+2T>A) c.64120+2T>A (n.64120+2T>A) c.90163+2T>A (n.90163+2T>A) c.85561+2T>A (n.85561+2T>A) c.85558+2T>A (n.85558+2T>A) c.82600+2T>A (n.82600+2T>A) c.64216+2T>A (n.64216+2T>A) c.85711+2T>A (n.85711+2T>A) c.85708+2T>A (n.85708+2T>A) c.85141+2T>A (n.85141+2T>A) c.82483+2T>A (n.82483+2T>A) c.82402+2T>A (n.82402+2T>A) c.64165+2T>A (n.64165+2T>A) c.54019+2T>A (n.54019+2T>A) | |
2 | g.178551629C>A | CA349502535 | TTN,TTN-AS1 | c.83566+1G>T (n.83566+1G>T) c.64651+1G>T (n.64651+1G>T) c.64450+1G>T (n.64450+1G>T) c.64075+1G>T (n.64075+1G>T) c.91270+1G>T (n.91270+1G>T) c.86347+1G>T (n.86347+1G>T) n.447-19671C>A n.2043+9268C>A c.90367+1G>T (n.90367+1G>T) c.64261+1G>T (n.64261+1G>T) c.64120+1G>T (n.64120+1G>T) c.90163+1G>T (n.90163+1G>T) c.85561+1G>T (n.85561+1G>T) c.85558+1G>T (n.85558+1G>T) c.82600+1G>T (n.82600+1G>T) c.64216+1G>T (n.64216+1G>T) c.85711+1G>T (n.85711+1G>T) c.85708+1G>T (n.85708+1G>T) c.85141+1G>T (n.85141+1G>T) c.82483+1G>T (n.82483+1G>T) c.82402+1G>T (n.82402+1G>T) c.64165+1G>T (n.64165+1G>T) c.54019+1G>T (n.54019+1G>T) | |
2 | g.178551629C>G | CA349502532 | TTN,TTN-AS1 | c.83566+1G>C (n.83566+1G>C) c.64651+1G>C (n.64651+1G>C) c.64450+1G>C (n.64450+1G>C) c.64075+1G>C (n.64075+1G>C) c.91270+1G>C (n.91270+1G>C) c.86347+1G>C (n.86347+1G>C) n.447-19671C>G n.2043+9268C>G c.90367+1G>C (n.90367+1G>C) c.64261+1G>C (n.64261+1G>C) c.64120+1G>C (n.64120+1G>C) c.90163+1G>C (n.90163+1G>C) c.85561+1G>C (n.85561+1G>C) c.85558+1G>C (n.85558+1G>C) c.82600+1G>C (n.82600+1G>C) c.64216+1G>C (n.64216+1G>C) c.85711+1G>C (n.85711+1G>C) c.85708+1G>C (n.85708+1G>C) c.85141+1G>C (n.85141+1G>C) c.82483+1G>C (n.82483+1G>C) c.82402+1G>C (n.82402+1G>C) c.64165+1G>C (n.64165+1G>C) c.54019+1G>C (n.54019+1G>C) | gnomAD v4 |
2 | g.178551629C>T | CA349502524 | TTN,TTN-AS1 | c.83566+1G>A (n.83566+1G>A) c.64651+1G>A (n.64651+1G>A) c.64450+1G>A (n.64450+1G>A) c.64075+1G>A (n.64075+1G>A) c.91270+1G>A (n.91270+1G>A) c.86347+1G>A (n.86347+1G>A) n.447-19671C>T n.2043+9268C>T c.90367+1G>A (n.90367+1G>A) c.64261+1G>A (n.64261+1G>A) c.64120+1G>A (n.64120+1G>A) c.90163+1G>A (n.90163+1G>A) c.85561+1G>A (n.85561+1G>A) c.85558+1G>A (n.85558+1G>A) c.82600+1G>A (n.82600+1G>A) c.64216+1G>A (n.64216+1G>A) c.85711+1G>A (n.85711+1G>A) c.85708+1G>A (n.85708+1G>A) c.85141+1G>A (n.85141+1G>A) c.82483+1G>A (n.82483+1G>A) c.82402+1G>A (n.82402+1G>A) c.64165+1G>A (n.64165+1G>A) c.54019+1G>A (n.54019+1G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.178551630C>A | CA349502537 | TTN,TTN-AS1 | c.83566G>T (p.Asp27856Tyr) c.64651G>T (p.Asp21551Tyr) c.64450G>T (p.Asp21484Tyr) c.64075G>T (p.Asp21359Tyr) c.91270G>T (p.Asp30424Tyr) c.86347G>T (p.Asp28783Tyr) n.447-19670C>A n.2043+9269C>A c.90367G>T (p.Asp30123Tyr) c.64261G>T (p.Asp21421Tyr) c.64120G>T (p.Asp21374Tyr) c.90163G>T (p.Asp30055Tyr) c.85561G>T (p.Asp28521Tyr) c.85558G>T (p.Asp28520Tyr) c.82600G>T (p.Asp27534Tyr) c.64216G>T (p.Asp21406Tyr) c.85711G>T (p.Asp28571Tyr) c.85708G>T (p.Asp28570Tyr) c.85141G>T (p.Asp28381Tyr) c.82483G>T (p.Asp27495Tyr) c.82402G>T (p.Asp27468Tyr) c.64165G>T (p.Asp21389Tyr) c.54019G>T (p.Asp18007Tyr) | |
2 | g.178551630C>G | CA349502539 | TTN,TTN-AS1 | c.83566G>C (p.Asp27856His) c.64651G>C (p.Asp21551His) c.64450G>C (p.Asp21484His) c.64075G>C (p.Asp21359His) c.91270G>C (p.Asp30424His) c.86347G>C (p.Asp28783His) n.447-19670C>G n.2043+9269C>G c.90367G>C (p.Asp30123His) c.64261G>C (p.Asp21421His) c.64120G>C (p.Asp21374His) c.90163G>C (p.Asp30055His) c.85561G>C (p.Asp28521His) c.85558G>C (p.Asp28520His) c.82600G>C (p.Asp27534His) c.64216G>C (p.Asp21406His) c.85711G>C (p.Asp28571His) c.85708G>C (p.Asp28570His) c.85141G>C (p.Asp28381His) c.82483G>C (p.Asp27495His) c.82402G>C (p.Asp27468His) c.64165G>C (p.Asp21389His) c.54019G>C (p.Asp18007His) | |
2 | g.178551630C>T | CA349502542 | TTN,TTN-AS1 | c.83566G>A (p.Asp27856Asn) c.64651G>A (p.Asp21551Asn) c.64450G>A (p.Asp21484Asn) c.64075G>A (p.Asp21359Asn) c.91270G>A (p.Asp30424Asn) c.86347G>A (p.Asp28783Asn) n.447-19670C>T n.2043+9269C>T c.90367G>A (p.Asp30123Asn) c.64261G>A (p.Asp21421Asn) c.64120G>A (p.Asp21374Asn) c.90163G>A (p.Asp30055Asn) c.85561G>A (p.Asp28521Asn) c.85558G>A (p.Asp28520Asn) c.82600G>A (p.Asp27534Asn) c.64216G>A (p.Asp21406Asn) c.85711G>A (p.Asp28571Asn) c.85708G>A (p.Asp28570Asn) c.85141G>A (p.Asp28381Asn) c.82483G>A (p.Asp27495Asn) c.82402G>A (p.Asp27468Asn) c.64165G>A (p.Asp21389Asn) c.54019G>A (p.Asp18007Asn) | |
2 | g.178551631T>A | CA430103974 | TTN,TTN-AS1 | c.83565A>T (p.Val27855=) c.64650A>T (p.Val21550=) c.64449A>T (p.Val21483=) c.64074A>T (p.Val21358=) c.91269A>T (p.Val30423=) c.86346A>T (p.Val28782=) n.447-19669T>A n.2043+9270T>A c.90366A>T (p.Val30122=) c.64260A>T (p.Val21420=) c.64119A>T (p.Val21373=) c.90162A>T (p.Val30054=) c.85560A>T (p.Val28520=) c.85557A>T (p.Val28519=) c.82599A>T (p.Val27533=) c.64215A>T (p.Val21405=) c.85710A>T (p.Val28570=) c.85707A>T (p.Val28569=) c.85140A>T (p.Val28380=) c.82482A>T (p.Val27494=) c.82401A>T (p.Val27467=) c.64164A>T (p.Val21388=) c.54018A>T (p.Val18006=) | |
2 | g.178551631T>C | CA430103975 | TTN,TTN-AS1 | c.83565A>G (p.Val27855=) c.64650A>G (p.Val21550=) c.64449A>G (p.Val21483=) c.64074A>G (p.Val21358=) c.91269A>G (p.Val30423=) c.86346A>G (p.Val28782=) n.447-19669T>C n.2043+9270T>C c.90366A>G (p.Val30122=) c.64260A>G (p.Val21420=) c.64119A>G (p.Val21373=) c.90162A>G (p.Val30054=) c.85560A>G (p.Val28520=) c.85557A>G (p.Val28519=) c.82599A>G (p.Val27533=) c.64215A>G (p.Val21405=) c.85710A>G (p.Val28570=) c.85707A>G (p.Val28569=) c.85140A>G (p.Val28380=) c.82482A>G (p.Val27494=) c.82401A>G (p.Val27467=) c.64164A>G (p.Val21388=) c.54018A>G (p.Val18006=) | |
2 | g.178551631T>G | CA430103976 | TTN,TTN-AS1 | c.83565A>C (p.Val27855=) c.64650A>C (p.Val21550=) c.64449A>C (p.Val21483=) c.64074A>C (p.Val21358=) c.91269A>C (p.Val30423=) c.86346A>C (p.Val28782=) n.447-19669T>G n.2043+9270T>G c.90366A>C (p.Val30122=) c.64260A>C (p.Val21420=) c.64119A>C (p.Val21373=) c.90162A>C (p.Val30054=) c.85560A>C (p.Val28520=) c.85557A>C (p.Val28519=) c.82599A>C (p.Val27533=) c.64215A>C (p.Val21405=) c.85710A>C (p.Val28570=) c.85707A>C (p.Val28569=) c.85140A>C (p.Val28380=) c.82482A>C (p.Val27494=) c.82401A>C (p.Val27467=) c.64164A>C (p.Val21388=) c.54018A>C (p.Val18006=) | |
2 | g.178551632A>C | CA349502543 | TTN,TTN-AS1 | c.83564T>G (p.Val27855Gly) c.64649T>G (p.Val21550Gly) c.64448T>G (p.Val21483Gly) c.64073T>G (p.Val21358Gly) c.91268T>G (p.Val30423Gly) c.86345T>G (p.Val28782Gly) n.447-19668A>C n.2043+9271A>C c.90365T>G (p.Val30122Gly) c.64259T>G (p.Val21420Gly) c.64118T>G (p.Val21373Gly) c.90161T>G (p.Val30054Gly) c.85559T>G (p.Val28520Gly) c.85556T>G (p.Val28519Gly) c.82598T>G (p.Val27533Gly) c.64214T>G (p.Val21405Gly) c.85709T>G (p.Val28570Gly) c.85706T>G (p.Val28569Gly) c.85139T>G (p.Val28380Gly) c.82481T>G (p.Val27494Gly) c.82400T>G (p.Val27467Gly) c.64163T>G (p.Val21388Gly) c.54017T>G (p.Val18006Gly) | |
2 | g.178551632A>G | CA349502544 | TTN,TTN-AS1 | c.83564T>C (p.Val27855Ala) c.64649T>C (p.Val21550Ala) c.64448T>C (p.Val21483Ala) c.64073T>C (p.Val21358Ala) c.91268T>C (p.Val30423Ala) c.86345T>C (p.Val28782Ala) n.447-19668A>G n.2043+9271A>G c.90365T>C (p.Val30122Ala) c.64259T>C (p.Val21420Ala) c.64118T>C (p.Val21373Ala) c.90161T>C (p.Val30054Ala) c.85559T>C (p.Val28520Ala) c.85556T>C (p.Val28519Ala) c.82598T>C (p.Val27533Ala) c.64214T>C (p.Val21405Ala) c.85709T>C (p.Val28570Ala) c.85706T>C (p.Val28569Ala) c.85139T>C (p.Val28380Ala) c.82481T>C (p.Val27494Ala) c.82400T>C (p.Val27467Ala) c.64163T>C (p.Val21388Ala) c.54017T>C (p.Val18006Ala) | |
2 | g.178551632A>T | CA349502545 | TTN,TTN-AS1 | c.83564T>A (p.Val27855Glu) c.64649T>A (p.Val21550Glu) c.64448T>A (p.Val21483Glu) c.64073T>A (p.Val21358Glu) c.91268T>A (p.Val30423Glu) c.86345T>A (p.Val28782Glu) n.447-19668A>T n.2043+9271A>T c.90365T>A (p.Val30122Glu) c.64259T>A (p.Val21420Glu) c.64118T>A (p.Val21373Glu) c.90161T>A (p.Val30054Glu) c.85559T>A (p.Val28520Glu) c.85556T>A (p.Val28519Glu) c.82598T>A (p.Val27533Glu) c.64214T>A (p.Val21405Glu) c.85709T>A (p.Val28570Glu) c.85706T>A (p.Val28569Glu) c.85139T>A (p.Val28380Glu) c.82481T>A (p.Val27494Glu) c.82400T>A (p.Val27467Glu) c.64163T>A (p.Val21388Glu) c.54017T>A (p.Val18006Glu) | |
2 | g.178551633C>A | CA349502546 | TTN,TTN-AS1 | c.83563G>T (p.Val27855Leu) c.64648G>T (p.Val21550Leu) c.64447G>T (p.Val21483Leu) c.64072G>T (p.Val21358Leu) c.91267G>T (p.Val30423Leu) c.86344G>T (p.Val28782Leu) n.447-19667C>A n.2043+9272C>A c.90364G>T (p.Val30122Leu) c.64258G>T (p.Val21420Leu) c.64117G>T (p.Val21373Leu) c.90160G>T (p.Val30054Leu) c.85558G>T (p.Val28520Leu) c.85555G>T (p.Val28519Leu) c.82597G>T (p.Val27533Leu) c.64213G>T (p.Val21405Leu) c.85708G>T (p.Val28570Leu) c.85705G>T (p.Val28569Leu) c.85138G>T (p.Val28380Leu) c.82480G>T (p.Val27494Leu) c.82399G>T (p.Val27467Leu) c.64162G>T (p.Val21388Leu) c.54016G>T (p.Val18006Leu) | |
2 | g.178551633C= | CA1310521122 | TTN,TTN-AS1 | c.83563G= (p.Val27855=) c.64648G= (p.Val21550=) c.64447G= (p.Val21483=) c.64072G= (p.Val21358=) c.91267G= (p.Val30423=) c.86344G= (p.Val28782=) n.447-19667C= n.2043+9272C= c.90364G= (p.Val30122=) c.64258G= (p.Val21420=) c.64117G= (p.Val21373=) c.90160G= (p.Val30054=) c.85558G= (p.Val28520=) c.85555G= (p.Val28519=) c.82597G= (p.Val27533=) c.64213G= (p.Val21405=) c.85708G= (p.Val28570=) c.85705G= (p.Val28569=) c.85138G= (p.Val28380=) c.82480G= (p.Val27494=) c.82399G= (p.Val27467=) c.64162G= (p.Val21388=) c.54016G= (p.Val18006=) | |
2 | g.178551633C>G | CA349502547 | TTN,TTN-AS1 | c.83563G>C (p.Val27855Leu) c.64648G>C (p.Val21550Leu) c.64447G>C (p.Val21483Leu) c.64072G>C (p.Val21358Leu) c.91267G>C (p.Val30423Leu) c.86344G>C (p.Val28782Leu) n.447-19667C>G n.2043+9272C>G c.90364G>C (p.Val30122Leu) c.64258G>C (p.Val21420Leu) c.64117G>C (p.Val21373Leu) c.90160G>C (p.Val30054Leu) c.85558G>C (p.Val28520Leu) c.85555G>C (p.Val28519Leu) c.82597G>C (p.Val27533Leu) c.64213G>C (p.Val21405Leu) c.85708G>C (p.Val28570Leu) c.85705G>C (p.Val28569Leu) c.85138G>C (p.Val28380Leu) c.82480G>C (p.Val27494Leu) c.82399G>C (p.Val27467Leu) c.64162G>C (p.Val21388Leu) c.54016G>C (p.Val18006Leu) | gnomAD v4 |
2 | g.178551633C>T | CA349502548 | TTN,TTN-AS1 | c.83563G>A (p.Val27855Ile) c.64648G>A (p.Val21550Ile) c.64447G>A (p.Val21483Ile) c.64072G>A (p.Val21358Ile) c.91267G>A (p.Val30423Ile) c.86344G>A (p.Val28782Ile) n.447-19667C>T n.2043+9272C>T c.90364G>A (p.Val30122Ile) c.64258G>A (p.Val21420Ile) c.64117G>A (p.Val21373Ile) c.90160G>A (p.Val30054Ile) c.85558G>A (p.Val28520Ile) c.85555G>A (p.Val28519Ile) c.82597G>A (p.Val27533Ile) c.64213G>A (p.Val21405Ile) c.85708G>A (p.Val28570Ile) c.85705G>A (p.Val28569Ile) c.85138G>A (p.Val28380Ile) c.82480G>A (p.Val27494Ile) c.82399G>A (p.Val27467Ile) c.64162G>A (p.Val21388Ile) c.54016G>A (p.Val18006Ile) | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.178551634T>A | CA430103980 | TTN,TTN-AS1 | c.83562A>T (p.Pro27854=) c.64647A>T (p.Pro21549=) c.64446A>T (p.Pro21482=) c.64071A>T (p.Pro21357=) c.91266A>T (p.Pro30422=) c.86343A>T (p.Pro28781=) n.447-19666T>A n.2043+9273T>A c.90363A>T (p.Pro30121=) c.64257A>T (p.Pro21419=) c.64116A>T (p.Pro21372=) c.90159A>T (p.Pro30053=) c.85557A>T (p.Pro28519=) c.85554A>T (p.Pro28518=) c.82596A>T (p.Pro27532=) c.64212A>T (p.Pro21404=) c.85707A>T (p.Pro28569=) c.85704A>T (p.Pro28568=) c.85137A>T (p.Pro28379=) c.82479A>T (p.Pro27493=) c.82398A>T (p.Pro27466=) c.64161A>T (p.Pro21387=) c.54015A>T (p.Pro18005=) | |
2 | g.178551634T>C | CA430103981 | TTN,TTN-AS1 | c.83562A>G (p.Pro27854=) c.64647A>G (p.Pro21549=) c.64446A>G (p.Pro21482=) c.64071A>G (p.Pro21357=) c.91266A>G (p.Pro30422=) c.86343A>G (p.Pro28781=) n.447-19666T>C n.2043+9273T>C c.90363A>G (p.Pro30121=) c.64257A>G (p.Pro21419=) c.64116A>G (p.Pro21372=) c.90159A>G (p.Pro30053=) c.85557A>G (p.Pro28519=) c.85554A>G (p.Pro28518=) c.82596A>G (p.Pro27532=) c.64212A>G (p.Pro21404=) c.85707A>G (p.Pro28569=) c.85704A>G (p.Pro28568=) c.85137A>G (p.Pro28379=) c.82479A>G (p.Pro27493=) c.82398A>G (p.Pro27466=) c.64161A>G (p.Pro21387=) c.54015A>G (p.Pro18005=) | |
2 | g.178551634T>G | CA430103982 | TTN,TTN-AS1 | c.83562A>C (p.Pro27854=) c.64647A>C (p.Pro21549=) c.64446A>C (p.Pro21482=) c.64071A>C (p.Pro21357=) c.91266A>C (p.Pro30422=) c.86343A>C (p.Pro28781=) n.447-19666T>G n.2043+9273T>G c.90363A>C (p.Pro30121=) c.64257A>C (p.Pro21419=) c.64116A>C (p.Pro21372=) c.90159A>C (p.Pro30053=) c.85557A>C (p.Pro28519=) c.85554A>C (p.Pro28518=) c.82596A>C (p.Pro27532=) c.64212A>C (p.Pro21404=) c.85707A>C (p.Pro28569=) c.85704A>C (p.Pro28568=) c.85137A>C (p.Pro28379=) c.82479A>C (p.Pro27493=) c.82398A>C (p.Pro27466=) c.64161A>C (p.Pro21387=) c.54015A>C (p.Pro18005=) | |
2 | g.178551635G>A | CA349502550 | TTN,TTN-AS1 | c.83561C>T (p.Pro27854Leu) c.64646C>T (p.Pro21549Leu) c.64445C>T (p.Pro21482Leu) c.64070C>T (p.Pro21357Leu) c.91265C>T (p.Pro30422Leu) c.86342C>T (p.Pro28781Leu) n.447-19665G>A n.2043+9274G>A c.90362C>T (p.Pro30121Leu) c.64256C>T (p.Pro21419Leu) c.64115C>T (p.Pro21372Leu) c.90158C>T (p.Pro30053Leu) c.85556C>T (p.Pro28519Leu) c.85553C>T (p.Pro28518Leu) c.82595C>T (p.Pro27532Leu) c.64211C>T (p.Pro21404Leu) c.85706C>T (p.Pro28569Leu) c.85703C>T (p.Pro28568Leu) c.85136C>T (p.Pro28379Leu) c.82478C>T (p.Pro27493Leu) c.82397C>T (p.Pro27466Leu) c.64160C>T (p.Pro21387Leu) c.54014C>T (p.Pro18005Leu) | gnomAD v4 |
2 | g.178551635G>C | CA349502553 | TTN,TTN-AS1 | c.83561C>G (p.Pro27854Arg) c.64646C>G (p.Pro21549Arg) c.64445C>G (p.Pro21482Arg) c.64070C>G (p.Pro21357Arg) c.91265C>G (p.Pro30422Arg) c.86342C>G (p.Pro28781Arg) n.447-19665G>C n.2043+9274G>C c.90362C>G (p.Pro30121Arg) c.64256C>G (p.Pro21419Arg) c.64115C>G (p.Pro21372Arg) c.90158C>G (p.Pro30053Arg) c.85556C>G (p.Pro28519Arg) c.85553C>G (p.Pro28518Arg) c.82595C>G (p.Pro27532Arg) c.64211C>G (p.Pro21404Arg) c.85706C>G (p.Pro28569Arg) c.85703C>G (p.Pro28568Arg) c.85136C>G (p.Pro28379Arg) c.82478C>G (p.Pro27493Arg) c.82397C>G (p.Pro27466Arg) c.64160C>G (p.Pro21387Arg) c.54014C>G (p.Pro18005Arg) | |
2 | g.178551635G>T | CA349502554 | TTN,TTN-AS1 | c.83561C>A (p.Pro27854Gln) c.64646C>A (p.Pro21549Gln) c.64445C>A (p.Pro21482Gln) c.64070C>A (p.Pro21357Gln) c.91265C>A (p.Pro30422Gln) c.86342C>A (p.Pro28781Gln) n.447-19665G>T n.2043+9274G>T c.90362C>A (p.Pro30121Gln) c.64256C>A (p.Pro21419Gln) c.64115C>A (p.Pro21372Gln) c.90158C>A (p.Pro30053Gln) c.85556C>A (p.Pro28519Gln) c.85553C>A (p.Pro28518Gln) c.82595C>A (p.Pro27532Gln) c.64211C>A (p.Pro21404Gln) c.85706C>A (p.Pro28569Gln) c.85703C>A (p.Pro28568Gln) c.85136C>A (p.Pro28379Gln) c.82478C>A (p.Pro27493Gln) c.82397C>A (p.Pro27466Gln) c.64160C>A (p.Pro21387Gln) c.54014C>A (p.Pro18005Gln) | |
2 | g.178551636del | CA645531283 | TTN,TTN-AS1 | c.83561del (p.Pro27854GlnfsTer2) c.64646del (p.Pro21549GlnfsTer2) c.64445del (p.Pro21482GlnfsTer2) c.64070del (p.Pro21357GlnfsTer2) c.91265del (p.Pro30422GlnfsTer2) c.86342del (p.Pro28781GlnfsTer2) n.447-19664del n.2043+9275del c.90362del (p.Pro30121GlnfsTer2) c.64256del (p.Pro21419GlnfsTer2) c.64115del (p.Pro21372GlnfsTer2) c.90158del (p.Pro30053GlnfsTer2) c.85556del (p.Pro28519GlnfsTer2) c.85553del (p.Pro28518GlnfsTer2) c.82595del (p.Pro27532GlnfsTer2) c.64211del (p.Pro21404GlnfsTer2) c.85706del (p.Pro28569GlnfsTer2) c.85703del (p.Pro28568GlnfsTer2) c.85136del (p.Pro28379GlnfsTer2) c.82478del (p.Pro27493GlnfsTer2) c.82397del (p.Pro27466GlnfsTer2) c.64160del (p.Pro21387GlnfsTer2) c.54014del (p.Pro18005GlnfsTer2) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178551636G>A | CA349502557 | TTN,TTN-AS1 | c.83560C>T (p.Pro27854Ser) c.64645C>T (p.Pro21549Ser) c.64444C>T (p.Pro21482Ser) c.64069C>T (p.Pro21357Ser) c.91264C>T (p.Pro30422Ser) c.86341C>T (p.Pro28781Ser) n.447-19664G>A n.2043+9275G>A c.90361C>T (p.Pro30121Ser) c.64255C>T (p.Pro21419Ser) c.64114C>T (p.Pro21372Ser) c.90157C>T (p.Pro30053Ser) c.85555C>T (p.Pro28519Ser) c.85552C>T (p.Pro28518Ser) c.82594C>T (p.Pro27532Ser) c.64210C>T (p.Pro21404Ser) c.85705C>T (p.Pro28569Ser) c.85702C>T (p.Pro28568Ser) c.85135C>T (p.Pro28379Ser) c.82477C>T (p.Pro27493Ser) c.82396C>T (p.Pro27466Ser) c.64159C>T (p.Pro21387Ser) c.54013C>T (p.Pro18005Ser) | |
2 | g.178551636G>C | CA349502558 | TTN,TTN-AS1 | c.83560C>G (p.Pro27854Ala) c.64645C>G (p.Pro21549Ala) c.64444C>G (p.Pro21482Ala) c.64069C>G (p.Pro21357Ala) c.91264C>G (p.Pro30422Ala) c.86341C>G (p.Pro28781Ala) n.447-19664G>C n.2043+9275G>C c.90361C>G (p.Pro30121Ala) c.64255C>G (p.Pro21419Ala) c.64114C>G (p.Pro21372Ala) c.90157C>G (p.Pro30053Ala) c.85555C>G (p.Pro28519Ala) c.85552C>G (p.Pro28518Ala) c.82594C>G (p.Pro27532Ala) c.64210C>G (p.Pro21404Ala) c.85705C>G (p.Pro28569Ala) c.85702C>G (p.Pro28568Ala) c.85135C>G (p.Pro28379Ala) c.82477C>G (p.Pro27493Ala) c.82396C>G (p.Pro27466Ala) c.64159C>G (p.Pro21387Ala) c.54013C>G (p.Pro18005Ala) | |
2 | g.178551636G>T | CA349502555 | TTN,TTN-AS1 | c.83560C>A (p.Pro27854Thr) c.64645C>A (p.Pro21549Thr) c.64444C>A (p.Pro21482Thr) c.64069C>A (p.Pro21357Thr) c.91264C>A (p.Pro30422Thr) c.86341C>A (p.Pro28781Thr) n.447-19664G>T n.2043+9275G>T c.90361C>A (p.Pro30121Thr) c.64255C>A (p.Pro21419Thr) c.64114C>A (p.Pro21372Thr) c.90157C>A (p.Pro30053Thr) c.85555C>A (p.Pro28519Thr) c.85552C>A (p.Pro28518Thr) c.82594C>A (p.Pro27532Thr) c.64210C>A (p.Pro21404Thr) c.85705C>A (p.Pro28569Thr) c.85702C>A (p.Pro28568Thr) c.85135C>A (p.Pro28379Thr) c.82477C>A (p.Pro27493Thr) c.82396C>A (p.Pro27466Thr) c.64159C>A (p.Pro21387Thr) c.54013C>A (p.Pro18005Thr) | |
2 | g.178551637A>C | CA430103987 | TTN,TTN-AS1 | c.83559T>G (p.Ser27853=) c.64644T>G (p.Ser21548=) c.64443T>G (p.Ser21481=) c.64068T>G (p.Ser21356=) c.91263T>G (p.Ser30421=) c.86340T>G (p.Ser28780=) n.447-19663A>C n.2043+9276A>C c.90360T>G (p.Ser30120=) c.64254T>G (p.Ser21418=) c.64113T>G (p.Ser21371=) c.90156T>G (p.Ser30052=) c.85554T>G (p.Ser28518=) c.85551T>G (p.Ser28517=) c.82593T>G (p.Ser27531=) c.64209T>G (p.Ser21403=) c.85704T>G (p.Ser28568=) c.85701T>G (p.Ser28567=) c.85134T>G (p.Ser28378=) c.82476T>G (p.Ser27492=) c.82395T>G (p.Ser27465=) c.64158T>G (p.Ser21386=) c.54012T>G (p.Ser18004=) | |
2 | g.178551637A>G | CA430103988 | TTN,TTN-AS1 | c.83559T>C (p.Ser27853=) c.64644T>C (p.Ser21548=) c.64443T>C (p.Ser21481=) c.64068T>C (p.Ser21356=) c.91263T>C (p.Ser30421=) c.86340T>C (p.Ser28780=) n.447-19663A>G n.2043+9276A>G c.90360T>C (p.Ser30120=) c.64254T>C (p.Ser21418=) c.64113T>C (p.Ser21371=) c.90156T>C (p.Ser30052=) c.85554T>C (p.Ser28518=) c.85551T>C (p.Ser28517=) c.82593T>C (p.Ser27531=) c.64209T>C (p.Ser21403=) c.85704T>C (p.Ser28568=) c.85701T>C (p.Ser28567=) c.85134T>C (p.Ser28378=) c.82476T>C (p.Ser27492=) c.82395T>C (p.Ser27465=) c.64158T>C (p.Ser21386=) c.54012T>C (p.Ser18004=) | |
2 | g.178551637A>T | CA430103989 | TTN,TTN-AS1 | c.83559T>A (p.Ser27853=) c.64644T>A (p.Ser21548=) c.64443T>A (p.Ser21481=) c.64068T>A (p.Ser21356=) c.91263T>A (p.Ser30421=) c.86340T>A (p.Ser28780=) n.447-19663A>T n.2043+9276A>T c.90360T>A (p.Ser30120=) c.64254T>A (p.Ser21418=) c.64113T>A (p.Ser21371=) c.90156T>A (p.Ser30052=) c.85554T>A (p.Ser28518=) c.85551T>A (p.Ser28517=) c.82593T>A (p.Ser27531=) c.64209T>A (p.Ser21403=) c.85704T>A (p.Ser28568=) c.85701T>A (p.Ser28567=) c.85134T>A (p.Ser28378=) c.82476T>A (p.Ser27492=) c.82395T>A (p.Ser27465=) c.64158T>A (p.Ser21386=) c.54012T>A (p.Ser18004=) | |
2 | g.178551638del | CA2662127155 | TTN,TTN-AS1 | c.83558del (p.Ser27853PhefsTer3) c.64643del (p.Ser21548PhefsTer3) c.64442del (p.Ser21481PhefsTer3) c.64067del (p.Ser21356PhefsTer3) c.91262del (p.Ser30421PhefsTer3) c.86339del (p.Ser28780PhefsTer3) n.447-19662del n.2043+9277del c.90359del (p.Ser30120PhefsTer3) c.64253del (p.Ser21418PhefsTer3) c.64112del (p.Ser21371PhefsTer3) c.90155del (p.Ser30052PhefsTer3) c.85553del (p.Ser28518PhefsTer3) c.85550del (p.Ser28517PhefsTer3) c.82592del (p.Ser27531PhefsTer3) c.64208del (p.Ser21403PhefsTer3) c.85703del (p.Ser28568PhefsTer3) c.85700del (p.Ser28567PhefsTer3) c.85133del (p.Ser28378PhefsTer3) c.82475del (p.Ser27492PhefsTer3) c.82394del (p.Ser27465PhefsTer3) c.64157del (p.Ser21386PhefsTer3) c.54011del (p.Ser18004PhefsTer3) | gnomAD v4 |
2 | g.178551638G>A | CA349502560 | TTN,TTN-AS1 | c.83558C>T (p.Ser27853Phe) c.64643C>T (p.Ser21548Phe) c.64442C>T (p.Ser21481Phe) c.64067C>T (p.Ser21356Phe) c.91262C>T (p.Ser30421Phe) c.86339C>T (p.Ser28780Phe) n.447-19662G>A n.2043+9277G>A c.90359C>T (p.Ser30120Phe) c.64253C>T (p.Ser21418Phe) c.64112C>T (p.Ser21371Phe) c.90155C>T (p.Ser30052Phe) c.85553C>T (p.Ser28518Phe) c.85550C>T (p.Ser28517Phe) c.82592C>T (p.Ser27531Phe) c.64208C>T (p.Ser21403Phe) c.85703C>T (p.Ser28568Phe) c.85700C>T (p.Ser28567Phe) c.85133C>T (p.Ser28378Phe) c.82475C>T (p.Ser27492Phe) c.82394C>T (p.Ser27465Phe) c.64157C>T (p.Ser21386Phe) c.54011C>T (p.Ser18004Phe) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178551638G>C | CA349502562 | TTN,TTN-AS1 | c.83558C>G (p.Ser27853Cys) c.64643C>G (p.Ser21548Cys) c.64442C>G (p.Ser21481Cys) c.64067C>G (p.Ser21356Cys) c.91262C>G (p.Ser30421Cys) c.86339C>G (p.Ser28780Cys) n.447-19662G>C n.2043+9277G>C c.90359C>G (p.Ser30120Cys) c.64253C>G (p.Ser21418Cys) c.64112C>G (p.Ser21371Cys) c.90155C>G (p.Ser30052Cys) c.85553C>G (p.Ser28518Cys) c.85550C>G (p.Ser28517Cys) c.82592C>G (p.Ser27531Cys) c.64208C>G (p.Ser21403Cys) c.85703C>G (p.Ser28568Cys) c.85700C>G (p.Ser28567Cys) c.85133C>G (p.Ser28378Cys) c.82475C>G (p.Ser27492Cys) c.82394C>G (p.Ser27465Cys) c.64157C>G (p.Ser21386Cys) c.54011C>G (p.Ser18004Cys) | |
2 | g.178551638G>T | CA349502568 | TTN,TTN-AS1 | c.83558C>A (p.Ser27853Tyr) c.64643C>A (p.Ser21548Tyr) c.64442C>A (p.Ser21481Tyr) c.64067C>A (p.Ser21356Tyr) c.91262C>A (p.Ser30421Tyr) c.86339C>A (p.Ser28780Tyr) n.447-19662G>T n.2043+9277G>T c.90359C>A (p.Ser30120Tyr) c.64253C>A (p.Ser21418Tyr) c.64112C>A (p.Ser21371Tyr) c.90155C>A (p.Ser30052Tyr) c.85553C>A (p.Ser28518Tyr) c.85550C>A (p.Ser28517Tyr) c.82592C>A (p.Ser27531Tyr) c.64208C>A (p.Ser21403Tyr) c.85703C>A (p.Ser28568Tyr) c.85700C>A (p.Ser28567Tyr) c.85133C>A (p.Ser28378Tyr) c.82475C>A (p.Ser27492Tyr) c.82394C>A (p.Ser27465Tyr) c.64157C>A (p.Ser21386Tyr) c.54011C>A (p.Ser18004Tyr) | |
2 | g.178551639A= | CA1310521124 | TTN,TTN-AS1 | c.83557T= (p.Ser27853=) c.64642T= (p.Ser21548=) c.64441T= (p.Ser21481=) c.64066T= (p.Ser21356=) c.91261T= (p.Ser30421=) c.86338T= (p.Ser28780=) n.447-19661A= n.2043+9278A= c.90358T= (p.Ser30120=) c.64252T= (p.Ser21418=) c.64111T= (p.Ser21371=) c.90154T= (p.Ser30052=) c.85552T= (p.Ser28518=) c.85549T= (p.Ser28517=) c.82591T= (p.Ser27531=) c.64207T= (p.Ser21403=) c.85702T= (p.Ser28568=) c.85699T= (p.Ser28567=) c.85132T= (p.Ser28378=) c.82474T= (p.Ser27492=) c.82393T= (p.Ser27465=) c.64156T= (p.Ser21386=) c.54010T= (p.Ser18004=) | |
2 | g.178551639A>C | CA349502570 | TTN,TTN-AS1 | c.83557T>G (p.Ser27853Ala) c.64642T>G (p.Ser21548Ala) c.64441T>G (p.Ser21481Ala) c.64066T>G (p.Ser21356Ala) c.91261T>G (p.Ser30421Ala) c.86338T>G (p.Ser28780Ala) n.447-19661A>C n.2043+9278A>C c.90358T>G (p.Ser30120Ala) c.64252T>G (p.Ser21418Ala) c.64111T>G (p.Ser21371Ala) c.90154T>G (p.Ser30052Ala) c.85552T>G (p.Ser28518Ala) c.85549T>G (p.Ser28517Ala) c.82591T>G (p.Ser27531Ala) c.64207T>G (p.Ser21403Ala) c.85702T>G (p.Ser28568Ala) c.85699T>G (p.Ser28567Ala) c.85132T>G (p.Ser28378Ala) c.82474T>G (p.Ser27492Ala) c.82393T>G (p.Ser27465Ala) c.64156T>G (p.Ser21386Ala) c.54010T>G (p.Ser18004Ala) | gnomAD v4 |
2 | g.178551639A>G | CA349502571 | TTN,TTN-AS1 | c.83557T>C (p.Ser27853Pro) c.64642T>C (p.Ser21548Pro) c.64441T>C (p.Ser21481Pro) c.64066T>C (p.Ser21356Pro) c.91261T>C (p.Ser30421Pro) c.86338T>C (p.Ser28780Pro) n.447-19661A>G n.2043+9278A>G c.90358T>C (p.Ser30120Pro) c.64252T>C (p.Ser21418Pro) c.64111T>C (p.Ser21371Pro) c.90154T>C (p.Ser30052Pro) c.85552T>C (p.Ser28518Pro) c.85549T>C (p.Ser28517Pro) c.82591T>C (p.Ser27531Pro) c.64207T>C (p.Ser21403Pro) c.85702T>C (p.Ser28568Pro) c.85699T>C (p.Ser28567Pro) c.85132T>C (p.Ser28378Pro) c.82474T>C (p.Ser27492Pro) c.82393T>C (p.Ser27465Pro) c.64156T>C (p.Ser21386Pro) c.54010T>C (p.Ser18004Pro) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178551639A>T | CA349502572 | TTN,TTN-AS1 | c.83557T>A (p.Ser27853Thr) c.64642T>A (p.Ser21548Thr) c.64441T>A (p.Ser21481Thr) c.64066T>A (p.Ser21356Thr) c.91261T>A (p.Ser30421Thr) c.86338T>A (p.Ser28780Thr) n.447-19661A>T n.2043+9278A>T c.90358T>A (p.Ser30120Thr) c.64252T>A (p.Ser21418Thr) c.64111T>A (p.Ser21371Thr) c.90154T>A (p.Ser30052Thr) c.85552T>A (p.Ser28518Thr) c.85549T>A (p.Ser28517Thr) c.82591T>A (p.Ser27531Thr) c.64207T>A (p.Ser21403Thr) c.85702T>A (p.Ser28568Thr) c.85699T>A (p.Ser28567Thr) c.85132T>A (p.Ser28378Thr) c.82474T>A (p.Ser27492Thr) c.82393T>A (p.Ser27465Thr) c.64156T>A (p.Ser21386Thr) c.54010T>A (p.Ser18004Thr) | |
2 | g.178551640A= | CA1310521126 | TTN,TTN-AS1 | c.83556T= (p.Val27852=) c.64641T= (p.Val21547=) c.64440T= (p.Val21480=) c.64065T= (p.Val21355=) c.91260T= (p.Val30420=) c.86337T= (p.Val28779=) n.447-19660A= n.2043+9279A= c.90357T= (p.Val30119=) c.64251T= (p.Val21417=) c.64110T= (p.Val21370=) c.90153T= (p.Val30051=) c.85551T= (p.Val28517=) c.85548T= (p.Val28516=) c.82590T= (p.Val27530=) c.64206T= (p.Val21402=) c.85701T= (p.Val28567=) c.85698T= (p.Val28566=) c.85131T= (p.Val28377=) c.82473T= (p.Val27491=) c.82392T= (p.Val27464=) c.64155T= (p.Val21385=) c.54009T= (p.Val18003=) | |
2 | g.178551640A>C | CA430103993 | TTN,TTN-AS1 | c.83556T>G (p.Val27852=) c.64641T>G (p.Val21547=) c.64440T>G (p.Val21480=) c.64065T>G (p.Val21355=) c.91260T>G (p.Val30420=) c.86337T>G (p.Val28779=) n.447-19660A>C n.2043+9279A>C c.90357T>G (p.Val30119=) c.64251T>G (p.Val21417=) c.64110T>G (p.Val21370=) c.90153T>G (p.Val30051=) c.85551T>G (p.Val28517=) c.85548T>G (p.Val28516=) c.82590T>G (p.Val27530=) c.64206T>G (p.Val21402=) c.85701T>G (p.Val28567=) c.85698T>G (p.Val28566=) c.85131T>G (p.Val28377=) c.82473T>G (p.Val27491=) c.82392T>G (p.Val27464=) c.64155T>G (p.Val21385=) c.54009T>G (p.Val18003=) | |
2 | g.178551640A>G | CA430103995 | TTN,TTN-AS1 | c.83556T>C (p.Val27852=) c.64641T>C (p.Val21547=) c.64440T>C (p.Val21480=) c.64065T>C (p.Val21355=) c.91260T>C (p.Val30420=) c.86337T>C (p.Val28779=) n.447-19660A>G n.2043+9279A>G c.90357T>C (p.Val30119=) c.64251T>C (p.Val21417=) c.64110T>C (p.Val21370=) c.90153T>C (p.Val30051=) c.85551T>C (p.Val28517=) c.85548T>C (p.Val28516=) c.82590T>C (p.Val27530=) c.64206T>C (p.Val21402=) c.85701T>C (p.Val28567=) c.85698T>C (p.Val28566=) c.85131T>C (p.Val28377=) c.82473T>C (p.Val27491=) c.82392T>C (p.Val27464=) c.64155T>C (p.Val21385=) c.54009T>C (p.Val18003=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.178551640A>T | CA430103997 | TTN,TTN-AS1 | c.83556T>A (p.Val27852=) c.64641T>A (p.Val21547=) c.64440T>A (p.Val21480=) c.64065T>A (p.Val21355=) c.91260T>A (p.Val30420=) c.86337T>A (p.Val28779=) n.447-19660A>T n.2043+9279A>T c.90357T>A (p.Val30119=) c.64251T>A (p.Val21417=) c.64110T>A (p.Val21370=) c.90153T>A (p.Val30051=) c.85551T>A (p.Val28517=) c.85548T>A (p.Val28516=) c.82590T>A (p.Val27530=) c.64206T>A (p.Val21402=) c.85701T>A (p.Val28567=) c.85698T>A (p.Val28566=) c.85131T>A (p.Val28377=) c.82473T>A (p.Val27491=) c.82392T>A (p.Val27464=) c.64155T>A (p.Val21385=) c.54009T>A (p.Val18003=) | |
2 | g.178551641A= | CA1310521129 | TTN,TTN-AS1 | c.83555T= (p.Val27852=) c.64640T= (p.Val21547=) c.64439T= (p.Val21480=) c.64064T= (p.Val21355=) c.91259T= (p.Val30420=) c.86336T= (p.Val28779=) n.447-19659A= n.2043+9280A= c.90356T= (p.Val30119=) c.64250T= (p.Val21417=) c.64109T= (p.Val21370=) c.90152T= (p.Val30051=) c.85550T= (p.Val28517=) c.85547T= (p.Val28516=) c.82589T= (p.Val27530=) c.64205T= (p.Val21402=) c.85700T= (p.Val28567=) c.85697T= (p.Val28566=) c.85130T= (p.Val28377=) c.82472T= (p.Val27491=) c.82391T= (p.Val27464=) c.64154T= (p.Val21385=) c.54008T= (p.Val18003=) | |
2 | g.178551641A>C | CA349502574 | TTN,TTN-AS1 | c.83555T>G (p.Val27852Gly) c.64640T>G (p.Val21547Gly) c.64439T>G (p.Val21480Gly) c.64064T>G (p.Val21355Gly) c.91259T>G (p.Val30420Gly) c.86336T>G (p.Val28779Gly) n.447-19659A>C n.2043+9280A>C c.90356T>G (p.Val30119Gly) c.64250T>G (p.Val21417Gly) c.64109T>G (p.Val21370Gly) c.90152T>G (p.Val30051Gly) c.85550T>G (p.Val28517Gly) c.85547T>G (p.Val28516Gly) c.82589T>G (p.Val27530Gly) c.64205T>G (p.Val21402Gly) c.85700T>G (p.Val28567Gly) c.85697T>G (p.Val28566Gly) c.85130T>G (p.Val28377Gly) c.82472T>G (p.Val27491Gly) c.82391T>G (p.Val27464Gly) c.64154T>G (p.Val21385Gly) c.54008T>G (p.Val18003Gly) | |
2 | g.178551641A>G | CA1987665 | TTN,TTN-AS1 | c.83555T>C (p.Val27852Ala) c.64640T>C (p.Val21547Ala) c.64439T>C (p.Val21480Ala) c.64064T>C (p.Val21355Ala) c.91259T>C (p.Val30420Ala) c.86336T>C (p.Val28779Ala) n.447-19659A>G n.2043+9280A>G c.90356T>C (p.Val30119Ala) c.64250T>C (p.Val21417Ala) c.64109T>C (p.Val21370Ala) c.90152T>C (p.Val30051Ala) c.85550T>C (p.Val28517Ala) c.85547T>C (p.Val28516Ala) c.82589T>C (p.Val27530Ala) c.64205T>C (p.Val21402Ala) c.85700T>C (p.Val28567Ala) c.85697T>C (p.Val28566Ala) c.85130T>C (p.Val28377Ala) c.82472T>C (p.Val27491Ala) c.82391T>C (p.Val27464Ala) c.64154T>C (p.Val21385Ala) c.54008T>C (p.Val18003Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178551641A>T | CA1987666 | TTN,TTN-AS1 | c.83555T>A (p.Val27852Asp) c.64640T>A (p.Val21547Asp) c.64439T>A (p.Val21480Asp) c.64064T>A (p.Val21355Asp) c.91259T>A (p.Val30420Asp) c.86336T>A (p.Val28779Asp) n.447-19659A>T n.2043+9280A>T c.90356T>A (p.Val30119Asp) c.64250T>A (p.Val21417Asp) c.64109T>A (p.Val21370Asp) c.90152T>A (p.Val30051Asp) c.85550T>A (p.Val28517Asp) c.85547T>A (p.Val28516Asp) c.82589T>A (p.Val27530Asp) c.64205T>A (p.Val21402Asp) c.85700T>A (p.Val28567Asp) c.85697T>A (p.Val28566Asp) c.85130T>A (p.Val28377Asp) c.82472T>A (p.Val27491Asp) c.82391T>A (p.Val27464Asp) c.64154T>A (p.Val21385Asp) c.54008T>A (p.Val18003Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178551642C>A | CA349502586 | TTN,TTN-AS1 | c.83554G>T (p.Val27852Phe) c.64639G>T (p.Val21547Phe) c.64438G>T (p.Val21480Phe) c.64063G>T (p.Val21355Phe) c.91258G>T (p.Val30420Phe) c.86335G>T (p.Val28779Phe) n.447-19658C>A n.2043+9281C>A c.90355G>T (p.Val30119Phe) c.64249G>T (p.Val21417Phe) c.64108G>T (p.Val21370Phe) c.90151G>T (p.Val30051Phe) c.85549G>T (p.Val28517Phe) c.85546G>T (p.Val28516Phe) c.82588G>T (p.Val27530Phe) c.64204G>T (p.Val21402Phe) c.85699G>T (p.Val28567Phe) c.85696G>T (p.Val28566Phe) c.85129G>T (p.Val28377Phe) c.82471G>T (p.Val27491Phe) c.82390G>T (p.Val27464Phe) c.64153G>T (p.Val21385Phe) c.54007G>T (p.Val18003Phe) | gnomAD v4 |
2 | g.178551642C>G | CA349502597 | TTN,TTN-AS1 | c.83554G>C (p.Val27852Leu) c.64639G>C (p.Val21547Leu) c.64438G>C (p.Val21480Leu) c.64063G>C (p.Val21355Leu) c.91258G>C (p.Val30420Leu) c.86335G>C (p.Val28779Leu) n.447-19658C>G n.2043+9281C>G c.90355G>C (p.Val30119Leu) c.64249G>C (p.Val21417Leu) c.64108G>C (p.Val21370Leu) c.90151G>C (p.Val30051Leu) c.85549G>C (p.Val28517Leu) c.85546G>C (p.Val28516Leu) c.82588G>C (p.Val27530Leu) c.64204G>C (p.Val21402Leu) c.85699G>C (p.Val28567Leu) c.85696G>C (p.Val28566Leu) c.85129G>C (p.Val28377Leu) c.82471G>C (p.Val27491Leu) c.82390G>C (p.Val27464Leu) c.64153G>C (p.Val21385Leu) c.54007G>C (p.Val18003Leu) | |
2 | g.178551642C>T | CA349502598 | TTN,TTN-AS1 | c.83554G>A (p.Val27852Ile) c.64639G>A (p.Val21547Ile) c.64438G>A (p.Val21480Ile) c.64063G>A (p.Val21355Ile) c.91258G>A (p.Val30420Ile) c.86335G>A (p.Val28779Ile) n.447-19658C>T n.2043+9281C>T c.90355G>A (p.Val30119Ile) c.64249G>A (p.Val21417Ile) c.64108G>A (p.Val21370Ile) c.90151G>A (p.Val30051Ile) c.85549G>A (p.Val28517Ile) c.85546G>A (p.Val28516Ile) c.82588G>A (p.Val27530Ile) c.64204G>A (p.Val21402Ile) c.85699G>A (p.Val28567Ile) c.85696G>A (p.Val28566Ile) c.85129G>A (p.Val28377Ile) c.82471G>A (p.Val27491Ile) c.82390G>A (p.Val27464Ile) c.64153G>A (p.Val21385Ile) c.54007G>A (p.Val18003Ile) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178551643del | CA2697549255 | TTN,TTN-AS1 | c.83553del (p.Val27852PhefsTer4) c.64638del (p.Val21547PhefsTer4) c.64437del (p.Val21480PhefsTer4) c.64062del (p.Val21355PhefsTer4) c.91257del (p.Val30420PhefsTer4) c.86334del (p.Val28779PhefsTer4) n.447-19657del n.2043+9282del c.90354del (p.Val30119PhefsTer4) c.64248del (p.Val21417PhefsTer4) c.64107del (p.Val21370PhefsTer4) c.90150del (p.Val30051PhefsTer4) c.85548del (p.Val28517PhefsTer4) c.85545del (p.Val28516PhefsTer4) c.82587del (p.Val27530PhefsTer4) c.64203del (p.Val21402PhefsTer4) c.85698del (p.Val28567PhefsTer4) c.85695del (p.Val28566PhefsTer4) c.85128del (p.Val28377PhefsTer4) c.82470del (p.Val27491PhefsTer4) c.82389del (p.Val27464PhefsTer4) c.64152del (p.Val21385PhefsTer4) c.54006del (p.Val18003PhefsTer4) | ClinVar |
2 | g.178551643A= | CA1310521131 | TTN,TTN-AS1 | c.83553T= (p.Ala27851=) c.64638T= (p.Ala21546=) c.64437T= (p.Ala21479=) c.64062T= (p.Ala21354=) c.91257T= (p.Ala30419=) c.86334T= (p.Ala28778=) n.447-19657A= n.2043+9282A= c.90354T= (p.Ala30118=) c.64248T= (p.Ala21416=) c.64107T= (p.Ala21369=) c.90150T= (p.Ala30050=) c.85548T= (p.Ala28516=) c.85545T= (p.Ala28515=) c.82587T= (p.Ala27529=) c.64203T= (p.Ala21401=) c.85698T= (p.Ala28566=) c.85695T= (p.Ala28565=) c.85128T= (p.Ala28376=) c.82470T= (p.Ala27490=) c.82389T= (p.Ala27463=) c.64152T= (p.Ala21384=) c.54006T= (p.Ala18002=) | |
2 | g.178551643A>C | CA430103999 | TTN,TTN-AS1 | c.83553T>G (p.Ala27851=) c.64638T>G (p.Ala21546=) c.64437T>G (p.Ala21479=) c.64062T>G (p.Ala21354=) c.91257T>G (p.Ala30419=) c.86334T>G (p.Ala28778=) n.447-19657A>C n.2043+9282A>C c.90354T>G (p.Ala30118=) c.64248T>G (p.Ala21416=) c.64107T>G (p.Ala21369=) c.90150T>G (p.Ala30050=) c.85548T>G (p.Ala28516=) c.85545T>G (p.Ala28515=) c.82587T>G (p.Ala27529=) c.64203T>G (p.Ala21401=) c.85698T>G (p.Ala28566=) c.85695T>G (p.Ala28565=) c.85128T>G (p.Ala28376=) c.82470T>G (p.Ala27490=) c.82389T>G (p.Ala27463=) c.64152T>G (p.Ala21384=) c.54006T>G (p.Ala18002=) | |
2 | g.178551643A>G | CA16603982 | TTN,TTN-AS1 | c.83553T>C (p.Ala27851=) c.64638T>C (p.Ala21546=) c.64437T>C (p.Ala21479=) c.64062T>C (p.Ala21354=) c.91257T>C (p.Ala30419=) c.86334T>C (p.Ala28778=) n.447-19657A>G n.2043+9282A>G c.90354T>C (p.Ala30118=) c.64248T>C (p.Ala21416=) c.64107T>C (p.Ala21369=) c.90150T>C (p.Ala30050=) c.85548T>C (p.Ala28516=) c.85545T>C (p.Ala28515=) c.82587T>C (p.Ala27529=) c.64203T>C (p.Ala21401=) c.85698T>C (p.Ala28566=) c.85695T>C (p.Ala28565=) c.85128T>C (p.Ala28376=) c.82470T>C (p.Ala27490=) c.82389T>C (p.Ala27463=) c.64152T>C (p.Ala21384=) c.54006T>C (p.Ala18002=) | ClinVar dbSNP |
2 | g.178551643A>T | CA430104000 | TTN,TTN-AS1 | c.83553T>A (p.Ala27851=) c.64638T>A (p.Ala21546=) c.64437T>A (p.Ala21479=) c.64062T>A (p.Ala21354=) c.91257T>A (p.Ala30419=) c.86334T>A (p.Ala28778=) n.447-19657A>T n.2043+9282A>T c.90354T>A (p.Ala30118=) c.64248T>A (p.Ala21416=) c.64107T>A (p.Ala21369=) c.90150T>A (p.Ala30050=) c.85548T>A (p.Ala28516=) c.85545T>A (p.Ala28515=) c.82587T>A (p.Ala27529=) c.64203T>A (p.Ala21401=) c.85698T>A (p.Ala28566=) c.85695T>A (p.Ala28565=) c.85128T>A (p.Ala28376=) c.82470T>A (p.Ala27490=) c.82389T>A (p.Ala27463=) c.64152T>A (p.Ala21384=) c.54006T>A (p.Ala18002=) | |
2 | g.178551644G>A | CA349502607 | TTN,TTN-AS1 | c.83552C>T (p.Ala27851Val) c.64637C>T (p.Ala21546Val) c.64436C>T (p.Ala21479Val) c.64061C>T (p.Ala21354Val) c.91256C>T (p.Ala30419Val) c.86333C>T (p.Ala28778Val) n.447-19656G>A n.2043+9283G>A c.90353C>T (p.Ala30118Val) c.64247C>T (p.Ala21416Val) c.64106C>T (p.Ala21369Val) c.90149C>T (p.Ala30050Val) c.85547C>T (p.Ala28516Val) c.85544C>T (p.Ala28515Val) c.82586C>T (p.Ala27529Val) c.64202C>T (p.Ala21401Val) c.85697C>T (p.Ala28566Val) c.85694C>T (p.Ala28565Val) c.85127C>T (p.Ala28376Val) c.82469C>T (p.Ala27490Val) c.82388C>T (p.Ala27463Val) c.64151C>T (p.Ala21384Val) c.54005C>T (p.Ala18002Val) | gnomAD v4 |
2 | g.178551644G>C | CA349502610 | TTN,TTN-AS1 | c.83552C>G (p.Ala27851Gly) c.64637C>G (p.Ala21546Gly) c.64436C>G (p.Ala21479Gly) c.64061C>G (p.Ala21354Gly) c.91256C>G (p.Ala30419Gly) c.86333C>G (p.Ala28778Gly) n.447-19656G>C n.2043+9283G>C c.90353C>G (p.Ala30118Gly) c.64247C>G (p.Ala21416Gly) c.64106C>G (p.Ala21369Gly) c.90149C>G (p.Ala30050Gly) c.85547C>G (p.Ala28516Gly) c.85544C>G (p.Ala28515Gly) c.82586C>G (p.Ala27529Gly) c.64202C>G (p.Ala21401Gly) c.85697C>G (p.Ala28566Gly) c.85694C>G (p.Ala28565Gly) c.85127C>G (p.Ala28376Gly) c.82469C>G (p.Ala27490Gly) c.82388C>G (p.Ala27463Gly) c.64151C>G (p.Ala21384Gly) c.54005C>G (p.Ala18002Gly) | |
2 | g.178551644G>T | CA349502603 | TTN,TTN-AS1 | c.83552C>A (p.Ala27851Asp) c.64637C>A (p.Ala21546Asp) c.64436C>A (p.Ala21479Asp) c.64061C>A (p.Ala21354Asp) c.91256C>A (p.Ala30419Asp) c.86333C>A (p.Ala28778Asp) n.447-19656G>T n.2043+9283G>T c.90353C>A (p.Ala30118Asp) c.64247C>A (p.Ala21416Asp) c.64106C>A (p.Ala21369Asp) c.90149C>A (p.Ala30050Asp) c.85547C>A (p.Ala28516Asp) c.85544C>A (p.Ala28515Asp) c.82586C>A (p.Ala27529Asp) c.64202C>A (p.Ala21401Asp) c.85697C>A (p.Ala28566Asp) c.85694C>A (p.Ala28565Asp) c.85127C>A (p.Ala28376Asp) c.82469C>A (p.Ala27490Asp) c.82388C>A (p.Ala27463Asp) c.64151C>A (p.Ala21384Asp) c.54005C>A (p.Ala18002Asp) | |
2 | g.178551645C>A | CA349502617 | TTN,TTN-AS1 | c.83551G>T (p.Ala27851Ser) c.64636G>T (p.Ala21546Ser) c.64435G>T (p.Ala21479Ser) c.64060G>T (p.Ala21354Ser) c.91255G>T (p.Ala30419Ser) c.86332G>T (p.Ala28778Ser) n.447-19655C>A n.2043+9284C>A c.90352G>T (p.Ala30118Ser) c.64246G>T (p.Ala21416Ser) c.64105G>T (p.Ala21369Ser) c.90148G>T (p.Ala30050Ser) c.85546G>T (p.Ala28516Ser) c.85543G>T (p.Ala28515Ser) c.82585G>T (p.Ala27529Ser) c.64201G>T (p.Ala21401Ser) c.85696G>T (p.Ala28566Ser) c.85693G>T (p.Ala28565Ser) c.85126G>T (p.Ala28376Ser) c.82468G>T (p.Ala27490Ser) c.82387G>T (p.Ala27463Ser) c.64150G>T (p.Ala21384Ser) c.54004G>T (p.Ala18002Ser) | |
2 | g.178551645C>G | CA349502624 | TTN,TTN-AS1 | c.83551G>C (p.Ala27851Pro) c.64636G>C (p.Ala21546Pro) c.64435G>C (p.Ala21479Pro) c.64060G>C (p.Ala21354Pro) c.91255G>C (p.Ala30419Pro) c.86332G>C (p.Ala28778Pro) n.447-19655C>G n.2043+9284C>G c.90352G>C (p.Ala30118Pro) c.64246G>C (p.Ala21416Pro) c.64105G>C (p.Ala21369Pro) c.90148G>C (p.Ala30050Pro) c.85546G>C (p.Ala28516Pro) c.85543G>C (p.Ala28515Pro) c.82585G>C (p.Ala27529Pro) c.64201G>C (p.Ala21401Pro) c.85696G>C (p.Ala28566Pro) c.85693G>C (p.Ala28565Pro) c.85126G>C (p.Ala28376Pro) c.82468G>C (p.Ala27490Pro) c.82387G>C (p.Ala27463Pro) c.64150G>C (p.Ala21384Pro) c.54004G>C (p.Ala18002Pro) | gnomAD v4 |
2 | g.178551645C>T | CA349502625 | TTN,TTN-AS1 | c.83551G>A (p.Ala27851Thr) c.64636G>A (p.Ala21546Thr) c.64435G>A (p.Ala21479Thr) c.64060G>A (p.Ala21354Thr) c.91255G>A (p.Ala30419Thr) c.86332G>A (p.Ala28778Thr) n.447-19655C>T n.2043+9284C>T c.90352G>A (p.Ala30118Thr) c.64246G>A (p.Ala21416Thr) c.64105G>A (p.Ala21369Thr) c.90148G>A (p.Ala30050Thr) c.85546G>A (p.Ala28516Thr) c.85543G>A (p.Ala28515Thr) c.82585G>A (p.Ala27529Thr) c.64201G>A (p.Ala21401Thr) c.85696G>A (p.Ala28566Thr) c.85693G>A (p.Ala28565Thr) c.85126G>A (p.Ala28376Thr) c.82468G>A (p.Ala27490Thr) c.82387G>A (p.Ala27463Thr) c.64150G>A (p.Ala21384Thr) c.54004G>A (p.Ala18002Thr) | gnomAD v4 |
2 | g.178551646T>A | CA349502628 | TTN,TTN-AS1 | c.83550A>T (p.Leu27850Phe) c.64635A>T (p.Leu21545Phe) c.64434A>T (p.Leu21478Phe) c.64059A>T (p.Leu21353Phe) c.91254A>T (p.Leu30418Phe) c.86331A>T (p.Leu28777Phe) n.447-19654T>A n.2043+9285T>A c.90351A>T (p.Leu30117Phe) c.64245A>T (p.Leu21415Phe) c.64104A>T (p.Leu21368Phe) c.90147A>T (p.Leu30049Phe) c.85545A>T (p.Leu28515Phe) c.85542A>T (p.Leu28514Phe) c.82584A>T (p.Leu27528Phe) c.64200A>T (p.Leu21400Phe) c.85695A>T (p.Leu28565Phe) c.85692A>T (p.Leu28564Phe) c.85125A>T (p.Leu28375Phe) c.82467A>T (p.Leu27489Phe) c.82386A>T (p.Leu27462Phe) c.64149A>T (p.Leu21383Phe) c.54003A>T (p.Leu18001Phe) | ClinVar |
2 | g.178551646T>C | CA430104007 | TTN,TTN-AS1 | c.83550A>G (p.Leu27850=) c.64635A>G (p.Leu21545=) c.64434A>G (p.Leu21478=) c.64059A>G (p.Leu21353=) c.91254A>G (p.Leu30418=) c.86331A>G (p.Leu28777=) n.447-19654T>C n.2043+9285T>C c.90351A>G (p.Leu30117=) c.64245A>G (p.Leu21415=) c.64104A>G (p.Leu21368=) c.90147A>G (p.Leu30049=) c.85545A>G (p.Leu28515=) c.85542A>G (p.Leu28514=) c.82584A>G (p.Leu27528=) c.64200A>G (p.Leu21400=) c.85695A>G (p.Leu28565=) c.85692A>G (p.Leu28564=) c.85125A>G (p.Leu28375=) c.82467A>G (p.Leu27489=) c.82386A>G (p.Leu27462=) c.64149A>G (p.Leu21383=) c.54003A>G (p.Leu18001=) | |
2 | g.178551646T>G | CA349502629 | TTN,TTN-AS1 | c.83550A>C (p.Leu27850Phe) c.64635A>C (p.Leu21545Phe) c.64434A>C (p.Leu21478Phe) c.64059A>C (p.Leu21353Phe) c.91254A>C (p.Leu30418Phe) c.86331A>C (p.Leu28777Phe) n.447-19654T>G n.2043+9285T>G c.90351A>C (p.Leu30117Phe) c.64245A>C (p.Leu21415Phe) c.64104A>C (p.Leu21368Phe) c.90147A>C (p.Leu30049Phe) c.85545A>C (p.Leu28515Phe) c.85542A>C (p.Leu28514Phe) c.82584A>C (p.Leu27528Phe) c.64200A>C (p.Leu21400Phe) c.85695A>C (p.Leu28565Phe) c.85692A>C (p.Leu28564Phe) c.85125A>C (p.Leu28375Phe) c.82467A>C (p.Leu27489Phe) c.82386A>C (p.Leu27462Phe) c.64149A>C (p.Leu21383Phe) c.54003A>C (p.Leu18001Phe) | |
2 | g.178551647A>C | CA349502632 | TTN,TTN-AS1 | c.83549T>G (p.Leu27850Ter) c.64634T>G (p.Leu21545Ter) c.64433T>G (p.Leu21478Ter) c.64058T>G (p.Leu21353Ter) c.91253T>G (p.Leu30418Ter) c.86330T>G (p.Leu28777Ter) n.447-19653A>C n.2043+9286A>C c.90350T>G (p.Leu30117Ter) c.64244T>G (p.Leu21415Ter) c.64103T>G (p.Leu21368Ter) c.90146T>G (p.Leu30049Ter) c.85544T>G (p.Leu28515Ter) c.85541T>G (p.Leu28514Ter) c.82583T>G (p.Leu27528Ter) c.64199T>G (p.Leu21400Ter) c.85694T>G (p.Leu28565Ter) c.85691T>G (p.Leu28564Ter) c.85124T>G (p.Leu28375Ter) c.82466T>G (p.Leu27489Ter) c.82385T>G (p.Leu27462Ter) c.64148T>G (p.Leu21383Ter) c.54002T>G (p.Leu18001Ter) | |
2 | g.178551647A>G | CA349502630 | TTN,TTN-AS1 | c.83549T>C (p.Leu27850Ser) c.64634T>C (p.Leu21545Ser) c.64433T>C (p.Leu21478Ser) c.64058T>C (p.Leu21353Ser) c.91253T>C (p.Leu30418Ser) c.86330T>C (p.Leu28777Ser) n.447-19653A>G n.2043+9286A>G c.90350T>C (p.Leu30117Ser) c.64244T>C (p.Leu21415Ser) c.64103T>C (p.Leu21368Ser) c.90146T>C (p.Leu30049Ser) c.85544T>C (p.Leu28515Ser) c.85541T>C (p.Leu28514Ser) c.82583T>C (p.Leu27528Ser) c.64199T>C (p.Leu21400Ser) c.85694T>C (p.Leu28565Ser) c.85691T>C (p.Leu28564Ser) c.85124T>C (p.Leu28375Ser) c.82466T>C (p.Leu27489Ser) c.82385T>C (p.Leu27462Ser) c.64148T>C (p.Leu21383Ser) c.54002T>C (p.Leu18001Ser) | |
2 | g.178551647A>T | CA349502631 | TTN,TTN-AS1 | c.83549T>A (p.Leu27850Ter) c.64634T>A (p.Leu21545Ter) c.64433T>A (p.Leu21478Ter) c.64058T>A (p.Leu21353Ter) c.91253T>A (p.Leu30418Ter) c.86330T>A (p.Leu28777Ter) n.447-19653A>T n.2043+9286A>T c.90350T>A (p.Leu30117Ter) c.64244T>A (p.Leu21415Ter) c.64103T>A (p.Leu21368Ter) c.90146T>A (p.Leu30049Ter) c.85544T>A (p.Leu28515Ter) c.85541T>A (p.Leu28514Ter) c.82583T>A (p.Leu27528Ter) c.64199T>A (p.Leu21400Ter) c.85694T>A (p.Leu28565Ter) c.85691T>A (p.Leu28564Ter) c.85124T>A (p.Leu28375Ter) c.82466T>A (p.Leu27489Ter) c.82385T>A (p.Leu27462Ter) c.64148T>A (p.Leu21383Ter) c.54002T>A (p.Leu18001Ter) | |
2 | g.178551648A>C | CA349502633 | TTN,TTN-AS1 | c.83548T>G (p.Leu27850Val) c.64633T>G (p.Leu21545Val) c.64432T>G (p.Leu21478Val) c.64057T>G (p.Leu21353Val) c.91252T>G (p.Leu30418Val) c.86329T>G (p.Leu28777Val) n.447-19652A>C n.2043+9287A>C c.90349T>G (p.Leu30117Val) c.64243T>G (p.Leu21415Val) c.64102T>G (p.Leu21368Val) c.90145T>G (p.Leu30049Val) c.85543T>G (p.Leu28515Val) c.85540T>G (p.Leu28514Val) c.82582T>G (p.Leu27528Val) c.64198T>G (p.Leu21400Val) c.85693T>G (p.Leu28565Val) c.85690T>G (p.Leu28564Val) c.85123T>G (p.Leu28375Val) c.82465T>G (p.Leu27489Val) c.82384T>G (p.Leu27462Val) c.64147T>G (p.Leu21383Val) c.54001T>G (p.Leu18001Val) | |
2 | g.178551648A>G | CA430104008 | TTN,TTN-AS1 | c.83548T>C (p.Leu27850=) c.64633T>C (p.Leu21545=) c.64432T>C (p.Leu21478=) c.64057T>C (p.Leu21353=) c.91252T>C (p.Leu30418=) c.86329T>C (p.Leu28777=) n.447-19652A>G n.2043+9287A>G c.90349T>C (p.Leu30117=) c.64243T>C (p.Leu21415=) c.64102T>C (p.Leu21368=) c.90145T>C (p.Leu30049=) c.85543T>C (p.Leu28515=) c.85540T>C (p.Leu28514=) c.82582T>C (p.Leu27528=) c.64198T>C (p.Leu21400=) c.85693T>C (p.Leu28565=) c.85690T>C (p.Leu28564=) c.85123T>C (p.Leu28375=) c.82465T>C (p.Leu27489=) c.82384T>C (p.Leu27462=) c.64147T>C (p.Leu21383=) c.54001T>C (p.Leu18001=) | |
2 | g.178551648A>T | CA349502635 | TTN,TTN-AS1 | c.83548T>A (p.Leu27850Ile) c.64633T>A (p.Leu21545Ile) c.64432T>A (p.Leu21478Ile) c.64057T>A (p.Leu21353Ile) c.91252T>A (p.Leu30418Ile) c.86329T>A (p.Leu28777Ile) n.447-19652A>T n.2043+9287A>T c.90349T>A (p.Leu30117Ile) c.64243T>A (p.Leu21415Ile) c.64102T>A (p.Leu21368Ile) c.90145T>A (p.Leu30049Ile) c.85543T>A (p.Leu28515Ile) c.85540T>A (p.Leu28514Ile) c.82582T>A (p.Leu27528Ile) c.64198T>A (p.Leu21400Ile) c.85693T>A (p.Leu28565Ile) c.85690T>A (p.Leu28564Ile) c.85123T>A (p.Leu28375Ile) c.82465T>A (p.Leu27489Ile) c.82384T>A (p.Leu27462Ile) c.64147T>A (p.Leu21383Ile) c.54001T>A (p.Leu18001Ile) | |
2 | g.178551649G>A | CA430104011 | TTN,TTN-AS1 | c.83547C>T (p.Thr27849=) c.64632C>T (p.Thr21544=) c.64431C>T (p.Thr21477=) c.64056C>T (p.Thr21352=) c.91251C>T (p.Thr30417=) c.86328C>T (p.Thr28776=) n.447-19651G>A n.2043+9288G>A c.90348C>T (p.Thr30116=) c.64242C>T (p.Thr21414=) c.64101C>T (p.Thr21367=) c.90144C>T (p.Thr30048=) c.85542C>T (p.Thr28514=) c.85539C>T (p.Thr28513=) c.82581C>T (p.Thr27527=) c.64197C>T (p.Thr21399=) c.85692C>T (p.Thr28564=) c.85689C>T (p.Thr28563=) c.85122C>T (p.Thr28374=) c.82464C>T (p.Thr27488=) c.82383C>T (p.Thr27461=) c.64146C>T (p.Thr21382=) c.54000C>T (p.Thr18000=) | |
2 | g.178551649G>C | CA430104013 | TTN,TTN-AS1 | c.83547C>G (p.Thr27849=) c.64632C>G (p.Thr21544=) c.64431C>G (p.Thr21477=) c.64056C>G (p.Thr21352=) c.91251C>G (p.Thr30417=) c.86328C>G (p.Thr28776=) n.447-19651G>C n.2043+9288G>C c.90348C>G (p.Thr30116=) c.64242C>G (p.Thr21414=) c.64101C>G (p.Thr21367=) c.90144C>G (p.Thr30048=) c.85542C>G (p.Thr28514=) c.85539C>G (p.Thr28513=) c.82581C>G (p.Thr27527=) c.64197C>G (p.Thr21399=) c.85692C>G (p.Thr28564=) c.85689C>G (p.Thr28563=) c.85122C>G (p.Thr28374=) c.82464C>G (p.Thr27488=) c.82383C>G (p.Thr27461=) c.64146C>G (p.Thr21382=) c.54000C>G (p.Thr18000=) | |
2 | g.178551649G>T | CA430104014 | TTN,TTN-AS1 | c.83547C>A (p.Thr27849=) c.64632C>A (p.Thr21544=) c.64431C>A (p.Thr21477=) c.64056C>A (p.Thr21352=) c.91251C>A (p.Thr30417=) c.86328C>A (p.Thr28776=) n.447-19651G>T n.2043+9288G>T c.90348C>A (p.Thr30116=) c.64242C>A (p.Thr21414=) c.64101C>A (p.Thr21367=) c.90144C>A (p.Thr30048=) c.85542C>A (p.Thr28514=) c.85539C>A (p.Thr28513=) c.82581C>A (p.Thr27527=) c.64197C>A (p.Thr21399=) c.85692C>A (p.Thr28564=) c.85689C>A (p.Thr28563=) c.85122C>A (p.Thr28374=) c.82464C>A (p.Thr27488=) c.82383C>A (p.Thr27461=) c.64146C>A (p.Thr21382=) c.54000C>A (p.Thr18000=) | |
2 | g.178551650G>A | CA349502638 | TTN,TTN-AS1 | c.83546C>T (p.Thr27849Ile) c.64631C>T (p.Thr21544Ile) c.64430C>T (p.Thr21477Ile) c.64055C>T (p.Thr21352Ile) c.91250C>T (p.Thr30417Ile) c.86327C>T (p.Thr28776Ile) n.447-19650G>A n.2043+9289G>A c.90347C>T (p.Thr30116Ile) c.64241C>T (p.Thr21414Ile) c.64100C>T (p.Thr21367Ile) c.90143C>T (p.Thr30048Ile) c.85541C>T (p.Thr28514Ile) c.85538C>T (p.Thr28513Ile) c.82580C>T (p.Thr27527Ile) c.64196C>T (p.Thr21399Ile) c.85691C>T (p.Thr28564Ile) c.85688C>T (p.Thr28563Ile) c.85121C>T (p.Thr28374Ile) c.82463C>T (p.Thr27488Ile) c.82382C>T (p.Thr27461Ile) c.64145C>T (p.Thr21382Ile) c.53999C>T (p.Thr18000Ile) | |
2 | g.178551650G>C | CA349502639 | TTN,TTN-AS1 | c.83546C>G (p.Thr27849Ser) c.64631C>G (p.Thr21544Ser) c.64430C>G (p.Thr21477Ser) c.64055C>G (p.Thr21352Ser) c.91250C>G (p.Thr30417Ser) c.86327C>G (p.Thr28776Ser) n.447-19650G>C n.2043+9289G>C c.90347C>G (p.Thr30116Ser) c.64241C>G (p.Thr21414Ser) c.64100C>G (p.Thr21367Ser) c.90143C>G (p.Thr30048Ser) c.85541C>G (p.Thr28514Ser) c.85538C>G (p.Thr28513Ser) c.82580C>G (p.Thr27527Ser) c.64196C>G (p.Thr21399Ser) c.85691C>G (p.Thr28564Ser) c.85688C>G (p.Thr28563Ser) c.85121C>G (p.Thr28374Ser) c.82463C>G (p.Thr27488Ser) c.82382C>G (p.Thr27461Ser) c.64145C>G (p.Thr21382Ser) c.53999C>G (p.Thr18000Ser) | |
2 | g.178551650G>T | CA349502640 | TTN,TTN-AS1 | c.83546C>A (p.Thr27849Asn) c.64631C>A (p.Thr21544Asn) c.64430C>A (p.Thr21477Asn) c.64055C>A (p.Thr21352Asn) c.91250C>A (p.Thr30417Asn) c.86327C>A (p.Thr28776Asn) n.447-19650G>T n.2043+9289G>T c.90347C>A (p.Thr30116Asn) c.64241C>A (p.Thr21414Asn) c.64100C>A (p.Thr21367Asn) c.90143C>A (p.Thr30048Asn) c.85541C>A (p.Thr28514Asn) c.85538C>A (p.Thr28513Asn) c.82580C>A (p.Thr27527Asn) c.64196C>A (p.Thr21399Asn) c.85691C>A (p.Thr28564Asn) c.85688C>A (p.Thr28563Asn) c.85121C>A (p.Thr28374Asn) c.82463C>A (p.Thr27488Asn) c.82382C>A (p.Thr27461Asn) c.64145C>A (p.Thr21382Asn) c.53999C>A (p.Thr18000Asn) | |
2 | g.178551651T>A | CA349502643 | TTN,TTN-AS1 | c.83545A>T (p.Thr27849Ser) c.64630A>T (p.Thr21544Ser) c.64429A>T (p.Thr21477Ser) c.64054A>T (p.Thr21352Ser) c.91249A>T (p.Thr30417Ser) c.86326A>T (p.Thr28776Ser) n.447-19649T>A n.2043+9290T>A c.90346A>T (p.Thr30116Ser) c.64240A>T (p.Thr21414Ser) c.64099A>T (p.Thr21367Ser) c.90142A>T (p.Thr30048Ser) c.85540A>T (p.Thr28514Ser) c.85537A>T (p.Thr28513Ser) c.82579A>T (p.Thr27527Ser) c.64195A>T (p.Thr21399Ser) c.85690A>T (p.Thr28564Ser) c.85687A>T (p.Thr28563Ser) c.85120A>T (p.Thr28374Ser) c.82462A>T (p.Thr27488Ser) c.82381A>T (p.Thr27461Ser) c.64144A>T (p.Thr21382Ser) c.53998A>T (p.Thr18000Ser) | |
2 | g.178551651T>C | CA349502642 | TTN,TTN-AS1 | c.83545A>G (p.Thr27849Ala) c.64630A>G (p.Thr21544Ala) c.64429A>G (p.Thr21477Ala) c.64054A>G (p.Thr21352Ala) c.91249A>G (p.Thr30417Ala) c.86326A>G (p.Thr28776Ala) n.447-19649T>C n.2043+9290T>C c.90346A>G (p.Thr30116Ala) c.64240A>G (p.Thr21414Ala) c.64099A>G (p.Thr21367Ala) c.90142A>G (p.Thr30048Ala) c.85540A>G (p.Thr28514Ala) c.85537A>G (p.Thr28513Ala) c.82579A>G (p.Thr27527Ala) c.64195A>G (p.Thr21399Ala) c.85690A>G (p.Thr28564Ala) c.85687A>G (p.Thr28563Ala) c.85120A>G (p.Thr28374Ala) c.82462A>G (p.Thr27488Ala) c.82381A>G (p.Thr27461Ala) c.64144A>G (p.Thr21382Ala) c.53998A>G (p.Thr18000Ala) | |
2 | g.178551651T>G | CA349502641 | TTN,TTN-AS1 | c.83545A>C (p.Thr27849Pro) c.64630A>C (p.Thr21544Pro) c.64429A>C (p.Thr21477Pro) c.64054A>C (p.Thr21352Pro) c.91249A>C (p.Thr30417Pro) c.86326A>C (p.Thr28776Pro) n.447-19649T>G n.2043+9290T>G c.90346A>C (p.Thr30116Pro) c.64240A>C (p.Thr21414Pro) c.64099A>C (p.Thr21367Pro) c.90142A>C (p.Thr30048Pro) c.85540A>C (p.Thr28514Pro) c.85537A>C (p.Thr28513Pro) c.82579A>C (p.Thr27527Pro) c.64195A>C (p.Thr21399Pro) c.85690A>C (p.Thr28564Pro) c.85687A>C (p.Thr28563Pro) c.85120A>C (p.Thr28374Pro) c.82462A>C (p.Thr27488Pro) c.82381A>C (p.Thr27461Pro) c.64144A>C (p.Thr21382Pro) c.53998A>C (p.Thr18000Pro) | |
2 | g.178551652A>C | CA349502645 | TTN,TTN-AS1 | c.83544T>G (p.Phe27848Leu) c.64629T>G (p.Phe21543Leu) c.64428T>G (p.Phe21476Leu) c.64053T>G (p.Phe21351Leu) c.91248T>G (p.Phe30416Leu) c.86325T>G (p.Phe28775Leu) n.447-19648A>C n.2043+9291A>C c.90345T>G (p.Phe30115Leu) c.64239T>G (p.Phe21413Leu) c.64098T>G (p.Phe21366Leu) c.90141T>G (p.Phe30047Leu) c.85539T>G (p.Phe28513Leu) c.85536T>G (p.Phe28512Leu) c.82578T>G (p.Phe27526Leu) c.64194T>G (p.Phe21398Leu) c.85689T>G (p.Phe28563Leu) c.85686T>G (p.Phe28562Leu) c.85119T>G (p.Phe28373Leu) c.82461T>G (p.Phe27487Leu) c.82380T>G (p.Phe27460Leu) c.64143T>G (p.Phe21381Leu) c.53997T>G (p.Phe17999Leu) | |
2 | g.178551652A>G | CA430104019 | TTN,TTN-AS1 | c.83544T>C (p.Phe27848=) c.64629T>C (p.Phe21543=) c.64428T>C (p.Phe21476=) c.64053T>C (p.Phe21351=) c.91248T>C (p.Phe30416=) c.86325T>C (p.Phe28775=) n.447-19648A>G n.2043+9291A>G c.90345T>C (p.Phe30115=) c.64239T>C (p.Phe21413=) c.64098T>C (p.Phe21366=) c.90141T>C (p.Phe30047=) c.85539T>C (p.Phe28513=) c.85536T>C (p.Phe28512=) c.82578T>C (p.Phe27526=) c.64194T>C (p.Phe21398=) c.85689T>C (p.Phe28563=) c.85686T>C (p.Phe28562=) c.85119T>C (p.Phe28373=) c.82461T>C (p.Phe27487=) c.82380T>C (p.Phe27460=) c.64143T>C (p.Phe21381=) c.53997T>C (p.Phe17999=) | |
2 | g.178551652A>T | CA349502647 | TTN,TTN-AS1 | c.83544T>A (p.Phe27848Leu) c.64629T>A (p.Phe21543Leu) c.64428T>A (p.Phe21476Leu) c.64053T>A (p.Phe21351Leu) c.91248T>A (p.Phe30416Leu) c.86325T>A (p.Phe28775Leu) n.447-19648A>T n.2043+9291A>T c.90345T>A (p.Phe30115Leu) c.64239T>A (p.Phe21413Leu) c.64098T>A (p.Phe21366Leu) c.90141T>A (p.Phe30047Leu) c.85539T>A (p.Phe28513Leu) c.85536T>A (p.Phe28512Leu) c.82578T>A (p.Phe27526Leu) c.64194T>A (p.Phe21398Leu) c.85689T>A (p.Phe28563Leu) c.85686T>A (p.Phe28562Leu) c.85119T>A (p.Phe28373Leu) c.82461T>A (p.Phe27487Leu) c.82380T>A (p.Phe27460Leu) c.64143T>A (p.Phe21381Leu) c.53997T>A (p.Phe17999Leu) | |
2 | g.178551653A>C | CA349502648 | TTN,TTN-AS1 | c.83543T>G (p.Phe27848Cys) c.64628T>G (p.Phe21543Cys) c.64427T>G (p.Phe21476Cys) c.64052T>G (p.Phe21351Cys) c.91247T>G (p.Phe30416Cys) c.86324T>G (p.Phe28775Cys) n.447-19647A>C n.2043+9292A>C c.90344T>G (p.Phe30115Cys) c.64238T>G (p.Phe21413Cys) c.64097T>G (p.Phe21366Cys) c.90140T>G (p.Phe30047Cys) c.85538T>G (p.Phe28513Cys) c.85535T>G (p.Phe28512Cys) c.82577T>G (p.Phe27526Cys) c.64193T>G (p.Phe21398Cys) c.85688T>G (p.Phe28563Cys) c.85685T>G (p.Phe28562Cys) c.85118T>G (p.Phe28373Cys) c.82460T>G (p.Phe27487Cys) c.82379T>G (p.Phe27460Cys) c.64142T>G (p.Phe21381Cys) c.53996T>G (p.Phe17999Cys) | |
2 | g.178551653A>G | CA349502657 | TTN,TTN-AS1 | c.83543T>C (p.Phe27848Ser) c.64628T>C (p.Phe21543Ser) c.64427T>C (p.Phe21476Ser) c.64052T>C (p.Phe21351Ser) c.91247T>C (p.Phe30416Ser) c.86324T>C (p.Phe28775Ser) n.447-19647A>G n.2043+9292A>G c.90344T>C (p.Phe30115Ser) c.64238T>C (p.Phe21413Ser) c.64097T>C (p.Phe21366Ser) c.90140T>C (p.Phe30047Ser) c.85538T>C (p.Phe28513Ser) c.85535T>C (p.Phe28512Ser) c.82577T>C (p.Phe27526Ser) c.64193T>C (p.Phe21398Ser) c.85688T>C (p.Phe28563Ser) c.85685T>C (p.Phe28562Ser) c.85118T>C (p.Phe28373Ser) c.82460T>C (p.Phe27487Ser) c.82379T>C (p.Phe27460Ser) c.64142T>C (p.Phe21381Ser) c.53996T>C (p.Phe17999Ser) | |
2 | g.178551653A>T | CA349502655 | TTN,TTN-AS1 | c.83543T>A (p.Phe27848Tyr) c.64628T>A (p.Phe21543Tyr) c.64427T>A (p.Phe21476Tyr) c.64052T>A (p.Phe21351Tyr) c.91247T>A (p.Phe30416Tyr) c.86324T>A (p.Phe28775Tyr) n.447-19647A>T n.2043+9292A>T c.90344T>A (p.Phe30115Tyr) c.64238T>A (p.Phe21413Tyr) c.64097T>A (p.Phe21366Tyr) c.90140T>A (p.Phe30047Tyr) c.85538T>A (p.Phe28513Tyr) c.85535T>A (p.Phe28512Tyr) c.82577T>A (p.Phe27526Tyr) c.64193T>A (p.Phe21398Tyr) c.85688T>A (p.Phe28563Tyr) c.85685T>A (p.Phe28562Tyr) c.85118T>A (p.Phe28373Tyr) c.82460T>A (p.Phe27487Tyr) c.82379T>A (p.Phe27460Tyr) c.64142T>A (p.Phe21381Tyr) c.53996T>A (p.Phe17999Tyr) | |
2 | g.178551654A>C | CA349502660 | TTN,TTN-AS1 | c.83542T>G (p.Phe27848Val) c.64627T>G (p.Phe21543Val) c.64426T>G (p.Phe21476Val) c.64051T>G (p.Phe21351Val) c.91246T>G (p.Phe30416Val) c.86323T>G (p.Phe28775Val) n.447-19646A>C n.2043+9293A>C c.90343T>G (p.Phe30115Val) c.64237T>G (p.Phe21413Val) c.64096T>G (p.Phe21366Val) c.90139T>G (p.Phe30047Val) c.85537T>G (p.Phe28513Val) c.85534T>G (p.Phe28512Val) c.82576T>G (p.Phe27526Val) c.64192T>G (p.Phe21398Val) c.85687T>G (p.Phe28563Val) c.85684T>G (p.Phe28562Val) c.85117T>G (p.Phe28373Val) c.82459T>G (p.Phe27487Val) c.82378T>G (p.Phe27460Val) c.64141T>G (p.Phe21381Val) c.53995T>G (p.Phe17999Val) | |
2 | g.178551654A>G | CA349502669 | TTN,TTN-AS1 | c.83542T>C (p.Phe27848Leu) c.64627T>C (p.Phe21543Leu) c.64426T>C (p.Phe21476Leu) c.64051T>C (p.Phe21351Leu) c.91246T>C (p.Phe30416Leu) c.86323T>C (p.Phe28775Leu) n.447-19646A>G n.2043+9293A>G c.90343T>C (p.Phe30115Leu) c.64237T>C (p.Phe21413Leu) c.64096T>C (p.Phe21366Leu) c.90139T>C (p.Phe30047Leu) c.85537T>C (p.Phe28513Leu) c.85534T>C (p.Phe28512Leu) c.82576T>C (p.Phe27526Leu) c.64192T>C (p.Phe21398Leu) c.85687T>C (p.Phe28563Leu) c.85684T>C (p.Phe28562Leu) c.85117T>C (p.Phe28373Leu) c.82459T>C (p.Phe27487Leu) c.82378T>C (p.Phe27460Leu) c.64141T>C (p.Phe21381Leu) c.53995T>C (p.Phe17999Leu) | |
2 | g.178551654A>T | CA349502672 | TTN,TTN-AS1 | c.83542T>A (p.Phe27848Ile) c.64627T>A (p.Phe21543Ile) c.64426T>A (p.Phe21476Ile) c.64051T>A (p.Phe21351Ile) c.91246T>A (p.Phe30416Ile) c.86323T>A (p.Phe28775Ile) n.447-19646A>T n.2043+9293A>T c.90343T>A (p.Phe30115Ile) c.64237T>A (p.Phe21413Ile) c.64096T>A (p.Phe21366Ile) c.90139T>A (p.Phe30047Ile) c.85537T>A (p.Phe28513Ile) c.85534T>A (p.Phe28512Ile) c.82576T>A (p.Phe27526Ile) c.64192T>A (p.Phe21398Ile) c.85687T>A (p.Phe28563Ile) c.85684T>A (p.Phe28562Ile) c.85117T>A (p.Phe28373Ile) c.82459T>A (p.Phe27487Ile) c.82378T>A (p.Phe27460Ile) c.64141T>A (p.Phe21381Ile) c.53995T>A (p.Phe17999Ile) | |
2 | g.178551655T>A | CA349502674 | TTN,TTN-AS1 | c.83541A>T (p.Lys27847Asn) c.64626A>T (p.Lys21542Asn) c.64425A>T (p.Lys21475Asn) c.64050A>T (p.Lys21350Asn) c.91245A>T (p.Lys30415Asn) c.86322A>T (p.Lys28774Asn) n.447-19645T>A n.2043+9294T>A c.90342A>T (p.Lys30114Asn) c.64236A>T (p.Lys21412Asn) c.64095A>T (p.Lys21365Asn) c.90138A>T (p.Lys30046Asn) c.85536A>T (p.Lys28512Asn) c.85533A>T (p.Lys28511Asn) c.82575A>T (p.Lys27525Asn) c.64191A>T (p.Lys21397Asn) c.85686A>T (p.Lys28562Asn) c.85683A>T (p.Lys28561Asn) c.85116A>T (p.Lys28372Asn) c.82458A>T (p.Lys27486Asn) c.82377A>T (p.Lys27459Asn) c.64140A>T (p.Lys21380Asn) c.53994A>T (p.Lys17998Asn) | |
2 | g.178551655T>C | CA430104024 | TTN,TTN-AS1 | c.83541A>G (p.Lys27847=) c.64626A>G (p.Lys21542=) c.64425A>G (p.Lys21475=) c.64050A>G (p.Lys21350=) c.91245A>G (p.Lys30415=) c.86322A>G (p.Lys28774=) n.447-19645T>C n.2043+9294T>C c.90342A>G (p.Lys30114=) c.64236A>G (p.Lys21412=) c.64095A>G (p.Lys21365=) c.90138A>G (p.Lys30046=) c.85536A>G (p.Lys28512=) c.85533A>G (p.Lys28511=) c.82575A>G (p.Lys27525=) c.64191A>G (p.Lys21397=) c.85686A>G (p.Lys28562=) c.85683A>G (p.Lys28561=) c.85116A>G (p.Lys28372=) c.82458A>G (p.Lys27486=) c.82377A>G (p.Lys27459=) c.64140A>G (p.Lys21380=) c.53994A>G (p.Lys17998=) | ClinVar gnomAD v4 |
2 | g.178551655T>G | CA349502677 | TTN,TTN-AS1 | c.83541A>C (p.Lys27847Asn) c.64626A>C (p.Lys21542Asn) c.64425A>C (p.Lys21475Asn) c.64050A>C (p.Lys21350Asn) c.91245A>C (p.Lys30415Asn) c.86322A>C (p.Lys28774Asn) n.447-19645T>G n.2043+9294T>G c.90342A>C (p.Lys30114Asn) c.64236A>C (p.Lys21412Asn) c.64095A>C (p.Lys21365Asn) c.90138A>C (p.Lys30046Asn) c.85536A>C (p.Lys28512Asn) c.85533A>C (p.Lys28511Asn) c.82575A>C (p.Lys27525Asn) c.64191A>C (p.Lys21397Asn) c.85686A>C (p.Lys28562Asn) c.85683A>C (p.Lys28561Asn) c.85116A>C (p.Lys28372Asn) c.82458A>C (p.Lys27486Asn) c.82377A>C (p.Lys27459Asn) c.64140A>C (p.Lys21380Asn) c.53994A>C (p.Lys17998Asn) | gnomAD v4 |
2 | g.178551656T>A | CA349502678 | TTN,TTN-AS1 | c.83540A>T (p.Lys27847Ile) c.64625A>T (p.Lys21542Ile) c.64424A>T (p.Lys21475Ile) c.64049A>T (p.Lys21350Ile) c.91244A>T (p.Lys30415Ile) c.86321A>T (p.Lys28774Ile) n.447-19644T>A n.2043+9295T>A c.90341A>T (p.Lys30114Ile) c.64235A>T (p.Lys21412Ile) c.64094A>T (p.Lys21365Ile) c.90137A>T (p.Lys30046Ile) c.85535A>T (p.Lys28512Ile) c.85532A>T (p.Lys28511Ile) c.82574A>T (p.Lys27525Ile) c.64190A>T (p.Lys21397Ile) c.85685A>T (p.Lys28562Ile) c.85682A>T (p.Lys28561Ile) c.85115A>T (p.Lys28372Ile) c.82457A>T (p.Lys27486Ile) c.82376A>T (p.Lys27459Ile) c.64139A>T (p.Lys21380Ile) c.53993A>T (p.Lys17998Ile) | |
2 | g.178551656T>C | CA349502680 | TTN,TTN-AS1 | c.83540A>G (p.Lys27847Arg) c.64625A>G (p.Lys21542Arg) c.64424A>G (p.Lys21475Arg) c.64049A>G (p.Lys21350Arg) c.91244A>G (p.Lys30415Arg) c.86321A>G (p.Lys28774Arg) n.447-19644T>C n.2043+9295T>C c.90341A>G (p.Lys30114Arg) c.64235A>G (p.Lys21412Arg) c.64094A>G (p.Lys21365Arg) c.90137A>G (p.Lys30046Arg) c.85535A>G (p.Lys28512Arg) c.85532A>G (p.Lys28511Arg) c.82574A>G (p.Lys27525Arg) c.64190A>G (p.Lys21397Arg) c.85685A>G (p.Lys28562Arg) c.85682A>G (p.Lys28561Arg) c.85115A>G (p.Lys28372Arg) c.82457A>G (p.Lys27486Arg) c.82376A>G (p.Lys27459Arg) c.64139A>G (p.Lys21380Arg) c.53993A>G (p.Lys17998Arg) | |
2 | g.178551656T>G | CA349502681 | TTN,TTN-AS1 | c.83540A>C (p.Lys27847Thr) c.64625A>C (p.Lys21542Thr) c.64424A>C (p.Lys21475Thr) c.64049A>C (p.Lys21350Thr) c.91244A>C (p.Lys30415Thr) c.86321A>C (p.Lys28774Thr) n.447-19644T>G n.2043+9295T>G c.90341A>C (p.Lys30114Thr) c.64235A>C (p.Lys21412Thr) c.64094A>C (p.Lys21365Thr) c.90137A>C (p.Lys30046Thr) c.85535A>C (p.Lys28512Thr) c.85532A>C (p.Lys28511Thr) c.82574A>C (p.Lys27525Thr) c.64190A>C (p.Lys21397Thr) c.85685A>C (p.Lys28562Thr) c.85682A>C (p.Lys28561Thr) c.85115A>C (p.Lys28372Thr) c.82457A>C (p.Lys27486Thr) c.82376A>C (p.Lys27459Thr) c.64139A>C (p.Lys21380Thr) c.53993A>C (p.Lys17998Thr) | |
2 | g.178551657T>A | CA349502684 | TTN,TTN-AS1 | c.83539A>T (p.Lys27847Ter) c.64624A>T (p.Lys21542Ter) c.64423A>T (p.Lys21475Ter) c.64048A>T (p.Lys21350Ter) c.91243A>T (p.Lys30415Ter) c.86320A>T (p.Lys28774Ter) n.447-19643T>A n.2043+9296T>A c.90340A>T (p.Lys30114Ter) c.64234A>T (p.Lys21412Ter) c.64093A>T (p.Lys21365Ter) c.90136A>T (p.Lys30046Ter) c.85534A>T (p.Lys28512Ter) c.85531A>T (p.Lys28511Ter) c.82573A>T (p.Lys27525Ter) c.64189A>T (p.Lys21397Ter) c.85684A>T (p.Lys28562Ter) c.85681A>T (p.Lys28561Ter) c.85114A>T (p.Lys28372Ter) c.82456A>T (p.Lys27486Ter) c.82375A>T (p.Lys27459Ter) c.64138A>T (p.Lys21380Ter) c.53992A>T (p.Lys17998Ter) | |
2 | g.178551657T>C | CA349502686 | TTN,TTN-AS1 | c.83539A>G (p.Lys27847Glu) c.64624A>G (p.Lys21542Glu) c.64423A>G (p.Lys21475Glu) c.64048A>G (p.Lys21350Glu) c.91243A>G (p.Lys30415Glu) c.86320A>G (p.Lys28774Glu) n.447-19643T>C n.2043+9296T>C c.90340A>G (p.Lys30114Glu) c.64234A>G (p.Lys21412Glu) c.64093A>G (p.Lys21365Glu) c.90136A>G (p.Lys30046Glu) c.85534A>G (p.Lys28512Glu) c.85531A>G (p.Lys28511Glu) c.82573A>G (p.Lys27525Glu) c.64189A>G (p.Lys21397Glu) c.85684A>G (p.Lys28562Glu) c.85681A>G (p.Lys28561Glu) c.85114A>G (p.Lys28372Glu) c.82456A>G (p.Lys27486Glu) c.82375A>G (p.Lys27459Glu) c.64138A>G (p.Lys21380Glu) c.53992A>G (p.Lys17998Glu) | |
2 | g.178551657T>G | CA349502689 | TTN,TTN-AS1 | c.83539A>C (p.Lys27847Gln) c.64624A>C (p.Lys21542Gln) c.64423A>C (p.Lys21475Gln) c.64048A>C (p.Lys21350Gln) c.91243A>C (p.Lys30415Gln) c.86320A>C (p.Lys28774Gln) n.447-19643T>G n.2043+9296T>G c.90340A>C (p.Lys30114Gln) c.64234A>C (p.Lys21412Gln) c.64093A>C (p.Lys21365Gln) c.90136A>C (p.Lys30046Gln) c.85534A>C (p.Lys28512Gln) c.85531A>C (p.Lys28511Gln) c.82573A>C (p.Lys27525Gln) c.64189A>C (p.Lys21397Gln) c.85684A>C (p.Lys28562Gln) c.85681A>C (p.Lys28561Gln) c.85114A>C (p.Lys28372Gln) c.82456A>C (p.Lys27486Gln) c.82375A>C (p.Lys27459Gln) c.64138A>C (p.Lys21380Gln) c.53992A>C (p.Lys17998Gln) | |
2 | g.178551658G>A | CA430104027 | TTN,TTN-AS1 | c.83538C>T (p.Ser27846=) c.64623C>T (p.Ser21541=) c.64422C>T (p.Ser21474=) c.64047C>T (p.Ser21349=) c.91242C>T (p.Ser30414=) c.86319C>T (p.Ser28773=) n.447-19642G>A n.2043+9297G>A c.90339C>T (p.Ser30113=) c.64233C>T (p.Ser21411=) c.64092C>T (p.Ser21364=) c.90135C>T (p.Ser30045=) c.85533C>T (p.Ser28511=) c.85530C>T (p.Ser28510=) c.82572C>T (p.Ser27524=) c.64188C>T (p.Ser21396=) c.85683C>T (p.Ser28561=) c.85680C>T (p.Ser28560=) c.85113C>T (p.Ser28371=) c.82455C>T (p.Ser27485=) c.82374C>T (p.Ser27458=) c.64137C>T (p.Ser21379=) c.53991C>T (p.Ser17997=) | gnomAD v4 |
2 | g.178551658G>C | CA349502705 | TTN,TTN-AS1 | c.83538C>G (p.Ser27846Arg) c.64623C>G (p.Ser21541Arg) c.64422C>G (p.Ser21474Arg) c.64047C>G (p.Ser21349Arg) c.91242C>G (p.Ser30414Arg) c.86319C>G (p.Ser28773Arg) n.447-19642G>C n.2043+9297G>C c.90339C>G (p.Ser30113Arg) c.64233C>G (p.Ser21411Arg) c.64092C>G (p.Ser21364Arg) c.90135C>G (p.Ser30045Arg) c.85533C>G (p.Ser28511Arg) c.85530C>G (p.Ser28510Arg) c.82572C>G (p.Ser27524Arg) c.64188C>G (p.Ser21396Arg) c.85683C>G (p.Ser28561Arg) c.85680C>G (p.Ser28560Arg) c.85113C>G (p.Ser28371Arg) c.82455C>G (p.Ser27485Arg) c.82374C>G (p.Ser27458Arg) c.64137C>G (p.Ser21379Arg) c.53991C>G (p.Ser17997Arg) | |
2 | g.178551658G>T | CA349502692 | TTN,TTN-AS1 | c.83538C>A (p.Ser27846Arg) c.64623C>A (p.Ser21541Arg) c.64422C>A (p.Ser21474Arg) c.64047C>A (p.Ser21349Arg) c.91242C>A (p.Ser30414Arg) c.86319C>A (p.Ser28773Arg) n.447-19642G>T n.2043+9297G>T c.90339C>A (p.Ser30113Arg) c.64233C>A (p.Ser21411Arg) c.64092C>A (p.Ser21364Arg) c.90135C>A (p.Ser30045Arg) c.85533C>A (p.Ser28511Arg) c.85530C>A (p.Ser28510Arg) c.82572C>A (p.Ser27524Arg) c.64188C>A (p.Ser21396Arg) c.85683C>A (p.Ser28561Arg) c.85680C>A (p.Ser28560Arg) c.85113C>A (p.Ser28371Arg) c.82455C>A (p.Ser27485Arg) c.82374C>A (p.Ser27458Arg) c.64137C>A (p.Ser21379Arg) c.53991C>A (p.Ser17997Arg) | |
2 | g.178551659C>A | CA349502709 | TTN,TTN-AS1 | c.83537G>T (p.Ser27846Ile) c.64622G>T (p.Ser21541Ile) c.64421G>T (p.Ser21474Ile) c.64046G>T (p.Ser21349Ile) c.91241G>T (p.Ser30414Ile) c.86318G>T (p.Ser28773Ile) n.447-19641C>A n.2043+9298C>A c.90338G>T (p.Ser30113Ile) c.64232G>T (p.Ser21411Ile) c.64091G>T (p.Ser21364Ile) c.90134G>T (p.Ser30045Ile) c.85532G>T (p.Ser28511Ile) c.85529G>T (p.Ser28510Ile) c.82571G>T (p.Ser27524Ile) c.64187G>T (p.Ser21396Ile) c.85682G>T (p.Ser28561Ile) c.85679G>T (p.Ser28560Ile) c.85112G>T (p.Ser28371Ile) c.82454G>T (p.Ser27485Ile) c.82373G>T (p.Ser27458Ile) c.64136G>T (p.Ser21379Ile) c.53990G>T (p.Ser17997Ile) | |
2 | g.178551659C= | CA1310521133 | TTN,TTN-AS1 | c.83537G= (p.Ser27846=) c.64622G= (p.Ser21541=) c.64421G= (p.Ser21474=) c.64046G= (p.Ser21349=) c.91241G= (p.Ser30414=) c.86318G= (p.Ser28773=) n.447-19641C= n.2043+9298C= c.90338G= (p.Ser30113=) c.64232G= (p.Ser21411=) c.64091G= (p.Ser21364=) c.90134G= (p.Ser30045=) c.85532G= (p.Ser28511=) c.85529G= (p.Ser28510=) c.82571G= (p.Ser27524=) c.64187G= (p.Ser21396=) c.85682G= (p.Ser28561=) c.85679G= (p.Ser28560=) c.85112G= (p.Ser28371=) c.82454G= (p.Ser27485=) c.82373G= (p.Ser27458=) c.64136G= (p.Ser21379=) c.53990G= (p.Ser17997=) | |
2 | g.178551659C>G | CA349502714 | TTN,TTN-AS1 | c.83537G>C (p.Ser27846Thr) c.64622G>C (p.Ser21541Thr) c.64421G>C (p.Ser21474Thr) c.64046G>C (p.Ser21349Thr) c.91241G>C (p.Ser30414Thr) c.86318G>C (p.Ser28773Thr) n.447-19641C>G n.2043+9298C>G c.90338G>C (p.Ser30113Thr) c.64232G>C (p.Ser21411Thr) c.64091G>C (p.Ser21364Thr) c.90134G>C (p.Ser30045Thr) c.85532G>C (p.Ser28511Thr) c.85529G>C (p.Ser28510Thr) c.82571G>C (p.Ser27524Thr) c.64187G>C (p.Ser21396Thr) c.85682G>C (p.Ser28561Thr) c.85679G>C (p.Ser28560Thr) c.85112G>C (p.Ser28371Thr) c.82454G>C (p.Ser27485Thr) c.82373G>C (p.Ser27458Thr) c.64136G>C (p.Ser21379Thr) c.53990G>C (p.Ser17997Thr) | gnomAD v4 |
2 | g.178551659C>T | CA349502718 | TTN,TTN-AS1 | c.83537G>A (p.Ser27846Asn) c.64622G>A (p.Ser21541Asn) c.64421G>A (p.Ser21474Asn) c.64046G>A (p.Ser21349Asn) c.91241G>A (p.Ser30414Asn) c.86318G>A (p.Ser28773Asn) n.447-19641C>T n.2043+9298C>T c.90338G>A (p.Ser30113Asn) c.64232G>A (p.Ser21411Asn) c.64091G>A (p.Ser21364Asn) c.90134G>A (p.Ser30045Asn) c.85532G>A (p.Ser28511Asn) c.85529G>A (p.Ser28510Asn) c.82571G>A (p.Ser27524Asn) c.64187G>A (p.Ser21396Asn) c.85682G>A (p.Ser28561Asn) c.85679G>A (p.Ser28560Asn) c.85112G>A (p.Ser28371Asn) c.82454G>A (p.Ser27485Asn) c.82373G>A (p.Ser27458Asn) c.64136G>A (p.Ser21379Asn) c.53990G>A (p.Ser17997Asn) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178551660T>A | CA1987667 | TTN,TTN-AS1 | c.83536A>T (p.Ser27846Cys) c.64621A>T (p.Ser21541Cys) c.64420A>T (p.Ser21474Cys) c.64045A>T (p.Ser21349Cys) c.91240A>T (p.Ser30414Cys) c.86317A>T (p.Ser28773Cys) n.447-19640T>A n.2043+9299T>A c.90337A>T (p.Ser30113Cys) c.64231A>T (p.Ser21411Cys) c.64090A>T (p.Ser21364Cys) c.90133A>T (p.Ser30045Cys) c.85531A>T (p.Ser28511Cys) c.85528A>T (p.Ser28510Cys) c.82570A>T (p.Ser27524Cys) c.64186A>T (p.Ser21396Cys) c.85681A>T (p.Ser28561Cys) c.85678A>T (p.Ser28560Cys) c.85111A>T (p.Ser28371Cys) c.82453A>T (p.Ser27485Cys) c.82372A>T (p.Ser27458Cys) c.64135A>T (p.Ser21379Cys) c.53989A>T (p.Ser17997Cys) | dbSNP ExAC |
2 | g.178551660T>C | CA349502732 | TTN,TTN-AS1 | c.83536A>G (p.Ser27846Gly) c.64621A>G (p.Ser21541Gly) c.64420A>G (p.Ser21474Gly) c.64045A>G (p.Ser21349Gly) c.91240A>G (p.Ser30414Gly) c.86317A>G (p.Ser28773Gly) n.447-19640T>C n.2043+9299T>C c.90337A>G (p.Ser30113Gly) c.64231A>G (p.Ser21411Gly) c.64090A>G (p.Ser21364Gly) c.90133A>G (p.Ser30045Gly) c.85531A>G (p.Ser28511Gly) c.85528A>G (p.Ser28510Gly) c.82570A>G (p.Ser27524Gly) c.64186A>G (p.Ser21396Gly) c.85681A>G (p.Ser28561Gly) c.85678A>G (p.Ser28560Gly) c.85111A>G (p.Ser28371Gly) c.82453A>G (p.Ser27485Gly) c.82372A>G (p.Ser27458Gly) c.64135A>G (p.Ser21379Gly) c.53989A>G (p.Ser17997Gly) | |
2 | g.178551660T>G | CA349502736 | TTN,TTN-AS1 | c.83536A>C (p.Ser27846Arg) c.64621A>C (p.Ser21541Arg) c.64420A>C (p.Ser21474Arg) c.64045A>C (p.Ser21349Arg) c.91240A>C (p.Ser30414Arg) c.86317A>C (p.Ser28773Arg) n.447-19640T>G n.2043+9299T>G c.90337A>C (p.Ser30113Arg) c.64231A>C (p.Ser21411Arg) c.64090A>C (p.Ser21364Arg) c.90133A>C (p.Ser30045Arg) c.85531A>C (p.Ser28511Arg) c.85528A>C (p.Ser28510Arg) c.82570A>C (p.Ser27524Arg) c.64186A>C (p.Ser21396Arg) c.85681A>C (p.Ser28561Arg) c.85678A>C (p.Ser28560Arg) c.85111A>C (p.Ser28371Arg) c.82453A>C (p.Ser27485Arg) c.82372A>C (p.Ser27458Arg) c.64135A>C (p.Ser21379Arg) c.53989A>C (p.Ser17997Arg) | |
2 | g.178551660T= | CA1310521135 | TTN,TTN-AS1 | c.83536A= (p.Ser27846=) c.64621A= (p.Ser21541=) c.64420A= (p.Ser21474=) c.64045A= (p.Ser21349=) c.91240A= (p.Ser30414=) c.86317A= (p.Ser28773=) n.447-19640T= n.2043+9299T= c.90337A= (p.Ser30113=) c.64231A= (p.Ser21411=) c.64090A= (p.Ser21364=) c.90133A= (p.Ser30045=) c.85531A= (p.Ser28511=) c.85528A= (p.Ser28510=) c.82570A= (p.Ser27524=) c.64186A= (p.Ser21396=) c.85681A= (p.Ser28561=) c.85678A= (p.Ser28560=) c.85111A= (p.Ser28371=) c.82453A= (p.Ser27485=) c.82372A= (p.Ser27458=) c.64135A= (p.Ser21379=) c.53989A= (p.Ser17997=) | |
2 | g.178551661T>A | CA430104032 | TTN,TTN-AS1 | c.83535A>T (p.Pro27845=) c.64620A>T (p.Pro21540=) c.64419A>T (p.Pro21473=) c.64044A>T (p.Pro21348=) c.91239A>T (p.Pro30413=) c.86316A>T (p.Pro28772=) n.447-19639T>A n.2043+9300T>A c.90336A>T (p.Pro30112=) c.64230A>T (p.Pro21410=) c.64089A>T (p.Pro21363=) c.90132A>T (p.Pro30044=) c.85530A>T (p.Pro28510=) c.85527A>T (p.Pro28509=) c.82569A>T (p.Pro27523=) c.64185A>T (p.Pro21395=) c.85680A>T (p.Pro28560=) c.85677A>T (p.Pro28559=) c.85110A>T (p.Pro28370=) c.82452A>T (p.Pro27484=) c.82371A>T (p.Pro27457=) c.64134A>T (p.Pro21378=) c.53988A>T (p.Pro17996=) | |
2 | g.178551661T>C | CA430104034 | TTN,TTN-AS1 | c.83535A>G (p.Pro27845=) c.64620A>G (p.Pro21540=) c.64419A>G (p.Pro21473=) c.64044A>G (p.Pro21348=) c.91239A>G (p.Pro30413=) c.86316A>G (p.Pro28772=) n.447-19639T>C n.2043+9300T>C c.90336A>G (p.Pro30112=) c.64230A>G (p.Pro21410=) c.64089A>G (p.Pro21363=) c.90132A>G (p.Pro30044=) c.85530A>G (p.Pro28510=) c.85527A>G (p.Pro28509=) c.82569A>G (p.Pro27523=) c.64185A>G (p.Pro21395=) c.85680A>G (p.Pro28560=) c.85677A>G (p.Pro28559=) c.85110A>G (p.Pro28370=) c.82452A>G (p.Pro27484=) c.82371A>G (p.Pro27457=) c.64134A>G (p.Pro21378=) c.53988A>G (p.Pro17996=) | |
2 | g.178551661T>G | CA430104035 | TTN,TTN-AS1 | c.83535A>C (p.Pro27845=) c.64620A>C (p.Pro21540=) c.64419A>C (p.Pro21473=) c.64044A>C (p.Pro21348=) c.91239A>C (p.Pro30413=) c.86316A>C (p.Pro28772=) n.447-19639T>G n.2043+9300T>G c.90336A>C (p.Pro30112=) c.64230A>C (p.Pro21410=) c.64089A>C (p.Pro21363=) c.90132A>C (p.Pro30044=) c.85530A>C (p.Pro28510=) c.85527A>C (p.Pro28509=) c.82569A>C (p.Pro27523=) c.64185A>C (p.Pro21395=) c.85680A>C (p.Pro28560=) c.85677A>C (p.Pro28559=) c.85110A>C (p.Pro28370=) c.82452A>C (p.Pro27484=) c.82371A>C (p.Pro27457=) c.64134A>C (p.Pro21378=) c.53988A>C (p.Pro17996=) | |
2 | g.178551662G>A | CA349502740 | TTN,TTN-AS1 | c.83534C>T (p.Pro27845Leu) c.64619C>T (p.Pro21540Leu) c.64418C>T (p.Pro21473Leu) c.64043C>T (p.Pro21348Leu) c.91238C>T (p.Pro30413Leu) c.86315C>T (p.Pro28772Leu) n.447-19638G>A n.2043+9301G>A c.90335C>T (p.Pro30112Leu) c.64229C>T (p.Pro21410Leu) c.64088C>T (p.Pro21363Leu) c.90131C>T (p.Pro30044Leu) c.85529C>T (p.Pro28510Leu) c.85526C>T (p.Pro28509Leu) c.82568C>T (p.Pro27523Leu) c.64184C>T (p.Pro21395Leu) c.85679C>T (p.Pro28560Leu) c.85676C>T (p.Pro28559Leu) c.85109C>T (p.Pro28370Leu) c.82451C>T (p.Pro27484Leu) c.82370C>T (p.Pro27457Leu) c.64133C>T (p.Pro21378Leu) c.53987C>T (p.Pro17996Leu) | |
2 | g.178551662G>C | CA349502742 | TTN,TTN-AS1 | c.83534C>G (p.Pro27845Arg) c.64619C>G (p.Pro21540Arg) c.64418C>G (p.Pro21473Arg) c.64043C>G (p.Pro21348Arg) c.91238C>G (p.Pro30413Arg) c.86315C>G (p.Pro28772Arg) n.447-19638G>C n.2043+9301G>C c.90335C>G (p.Pro30112Arg) c.64229C>G (p.Pro21410Arg) c.64088C>G (p.Pro21363Arg) c.90131C>G (p.Pro30044Arg) c.85529C>G (p.Pro28510Arg) c.85526C>G (p.Pro28509Arg) c.82568C>G (p.Pro27523Arg) c.64184C>G (p.Pro21395Arg) c.85679C>G (p.Pro28560Arg) c.85676C>G (p.Pro28559Arg) c.85109C>G (p.Pro28370Arg) c.82451C>G (p.Pro27484Arg) c.82370C>G (p.Pro27457Arg) c.64133C>G (p.Pro21378Arg) c.53987C>G (p.Pro17996Arg) | |
2 | g.178551662G>T | CA349502743 | TTN,TTN-AS1 | c.83534C>A (p.Pro27845Gln) c.64619C>A (p.Pro21540Gln) c.64418C>A (p.Pro21473Gln) c.64043C>A (p.Pro21348Gln) c.91238C>A (p.Pro30413Gln) c.86315C>A (p.Pro28772Gln) n.447-19638G>T n.2043+9301G>T c.90335C>A (p.Pro30112Gln) c.64229C>A (p.Pro21410Gln) c.64088C>A (p.Pro21363Gln) c.90131C>A (p.Pro30044Gln) c.85529C>A (p.Pro28510Gln) c.85526C>A (p.Pro28509Gln) c.82568C>A (p.Pro27523Gln) c.64184C>A (p.Pro21395Gln) c.85679C>A (p.Pro28560Gln) c.85676C>A (p.Pro28559Gln) c.85109C>A (p.Pro28370Gln) c.82451C>A (p.Pro27484Gln) c.82370C>A (p.Pro27457Gln) c.64133C>A (p.Pro21378Gln) c.53987C>A (p.Pro17996Gln) | |
2 | g.178551663G>A | CA349502748 | TTN,TTN-AS1 | c.83533C>T (p.Pro27845Ser) c.64618C>T (p.Pro21540Ser) c.64417C>T (p.Pro21473Ser) c.64042C>T (p.Pro21348Ser) c.91237C>T (p.Pro30413Ser) c.86314C>T (p.Pro28772Ser) n.447-19637G>A n.2043+9302G>A c.90334C>T (p.Pro30112Ser) c.64228C>T (p.Pro21410Ser) c.64087C>T (p.Pro21363Ser) c.90130C>T (p.Pro30044Ser) c.85528C>T (p.Pro28510Ser) c.85525C>T (p.Pro28509Ser) c.82567C>T (p.Pro27523Ser) c.64183C>T (p.Pro21395Ser) c.85678C>T (p.Pro28560Ser) c.85675C>T (p.Pro28559Ser) c.85108C>T (p.Pro28370Ser) c.82450C>T (p.Pro27484Ser) c.82369C>T (p.Pro27457Ser) c.64132C>T (p.Pro21378Ser) c.53986C>T (p.Pro17996Ser) | gnomAD v4 |
2 | g.178551663G>C | CA349502750 | TTN,TTN-AS1 | c.83533C>G (p.Pro27845Ala) c.64618C>G (p.Pro21540Ala) c.64417C>G (p.Pro21473Ala) c.64042C>G (p.Pro21348Ala) c.91237C>G (p.Pro30413Ala) c.86314C>G (p.Pro28772Ala) n.447-19637G>C n.2043+9302G>C c.90334C>G (p.Pro30112Ala) c.64228C>G (p.Pro21410Ala) c.64087C>G (p.Pro21363Ala) c.90130C>G (p.Pro30044Ala) c.85528C>G (p.Pro28510Ala) c.85525C>G (p.Pro28509Ala) c.82567C>G (p.Pro27523Ala) c.64183C>G (p.Pro21395Ala) c.85678C>G (p.Pro28560Ala) c.85675C>G (p.Pro28559Ala) c.85108C>G (p.Pro28370Ala) c.82450C>G (p.Pro27484Ala) c.82369C>G (p.Pro27457Ala) c.64132C>G (p.Pro21378Ala) c.53986C>G (p.Pro17996Ala) | |
2 | g.178551663G>T | CA349502751 | TTN,TTN-AS1 | c.83533C>A (p.Pro27845Thr) c.64618C>A (p.Pro21540Thr) c.64417C>A (p.Pro21473Thr) c.64042C>A (p.Pro21348Thr) c.91237C>A (p.Pro30413Thr) c.86314C>A (p.Pro28772Thr) n.447-19637G>T n.2043+9302G>T c.90334C>A (p.Pro30112Thr) c.64228C>A (p.Pro21410Thr) c.64087C>A (p.Pro21363Thr) c.90130C>A (p.Pro30044Thr) c.85528C>A (p.Pro28510Thr) c.85525C>A (p.Pro28509Thr) c.82567C>A (p.Pro27523Thr) c.64183C>A (p.Pro21395Thr) c.85678C>A (p.Pro28560Thr) c.85675C>A (p.Pro28559Thr) c.85108C>A (p.Pro28370Thr) c.82450C>A (p.Pro27484Thr) c.82369C>A (p.Pro27457Thr) c.64132C>A (p.Pro21378Thr) c.53986C>A (p.Pro17996Thr) | |
2 | g.178551664G>A | CA430104040 | TTN,TTN-AS1 | c.83532C>T (p.Asp27844=) c.64617C>T (p.Asp21539=) c.64416C>T (p.Asp21472=) c.64041C>T (p.Asp21347=) c.91236C>T (p.Asp30412=) c.86313C>T (p.Asp28771=) n.447-19636G>A n.2043+9303G>A c.90333C>T (p.Asp30111=) c.64227C>T (p.Asp21409=) c.64086C>T (p.Asp21362=) c.90129C>T (p.Asp30043=) c.85527C>T (p.Asp28509=) c.85524C>T (p.Asp28508=) c.82566C>T (p.Asp27522=) c.64182C>T (p.Asp21394=) c.85677C>T (p.Asp28559=) c.85674C>T (p.Asp28558=) c.85107C>T (p.Asp28369=) c.82449C>T (p.Asp27483=) c.82368C>T (p.Asp27456=) c.64131C>T (p.Asp21377=) c.53985C>T (p.Asp17995=) | |
2 | g.178551664G>C | CA349502753 | TTN,TTN-AS1 | c.83532C>G (p.Asp27844Glu) c.64617C>G (p.Asp21539Glu) c.64416C>G (p.Asp21472Glu) c.64041C>G (p.Asp21347Glu) c.91236C>G (p.Asp30412Glu) c.86313C>G (p.Asp28771Glu) n.447-19636G>C n.2043+9303G>C c.90333C>G (p.Asp30111Glu) c.64227C>G (p.Asp21409Glu) c.64086C>G (p.Asp21362Glu) c.90129C>G (p.Asp30043Glu) c.85527C>G (p.Asp28509Glu) c.85524C>G (p.Asp28508Glu) c.82566C>G (p.Asp27522Glu) c.64182C>G (p.Asp21394Glu) c.85677C>G (p.Asp28559Glu) c.85674C>G (p.Asp28558Glu) c.85107C>G (p.Asp28369Glu) c.82449C>G (p.Asp27483Glu) c.82368C>G (p.Asp27456Glu) c.64131C>G (p.Asp21377Glu) c.53985C>G (p.Asp17995Glu) | |
2 | g.178551664G>T | CA349502752 | TTN,TTN-AS1 | c.83532C>A (p.Asp27844Glu) c.64617C>A (p.Asp21539Glu) c.64416C>A (p.Asp21472Glu) c.64041C>A (p.Asp21347Glu) c.91236C>A (p.Asp30412Glu) c.86313C>A (p.Asp28771Glu) n.447-19636G>T n.2043+9303G>T c.90333C>A (p.Asp30111Glu) c.64227C>A (p.Asp21409Glu) c.64086C>A (p.Asp21362Glu) c.90129C>A (p.Asp30043Glu) c.85527C>A (p.Asp28509Glu) c.85524C>A (p.Asp28508Glu) c.82566C>A (p.Asp27522Glu) c.64182C>A (p.Asp21394Glu) c.85677C>A (p.Asp28559Glu) c.85674C>A (p.Asp28558Glu) c.85107C>A (p.Asp28369Glu) c.82449C>A (p.Asp27483Glu) c.82368C>A (p.Asp27456Glu) c.64131C>A (p.Asp21377Glu) c.53985C>A (p.Asp17995Glu) | |
2 | g.178551665T>A | CA349502757 | TTN,TTN-AS1 | c.83531A>T (p.Asp27844Val) c.64616A>T (p.Asp21539Val) c.64415A>T (p.Asp21472Val) c.64040A>T (p.Asp21347Val) c.91235A>T (p.Asp30412Val) c.86312A>T (p.Asp28771Val) n.447-19635T>A n.2043+9304T>A c.90332A>T (p.Asp30111Val) c.64226A>T (p.Asp21409Val) c.64085A>T (p.Asp21362Val) c.90128A>T (p.Asp30043Val) c.85526A>T (p.Asp28509Val) c.85523A>T (p.Asp28508Val) c.82565A>T (p.Asp27522Val) c.64181A>T (p.Asp21394Val) c.85676A>T (p.Asp28559Val) c.85673A>T (p.Asp28558Val) c.85106A>T (p.Asp28369Val) c.82448A>T (p.Asp27483Val) c.82367A>T (p.Asp27456Val) c.64130A>T (p.Asp21377Val) c.53984A>T (p.Asp17995Val) | |
2 | g.178551665T>C | CA349502760 | TTN,TTN-AS1 | c.83531A>G (p.Asp27844Gly) c.64616A>G (p.Asp21539Gly) c.64415A>G (p.Asp21472Gly) c.64040A>G (p.Asp21347Gly) c.91235A>G (p.Asp30412Gly) c.86312A>G (p.Asp28771Gly) n.447-19635T>C n.2043+9304T>C c.90332A>G (p.Asp30111Gly) c.64226A>G (p.Asp21409Gly) c.64085A>G (p.Asp21362Gly) c.90128A>G (p.Asp30043Gly) c.85526A>G (p.Asp28509Gly) c.85523A>G (p.Asp28508Gly) c.82565A>G (p.Asp27522Gly) c.64181A>G (p.Asp21394Gly) c.85676A>G (p.Asp28559Gly) c.85673A>G (p.Asp28558Gly) c.85106A>G (p.Asp28369Gly) c.82448A>G (p.Asp27483Gly) c.82367A>G (p.Asp27456Gly) c.64130A>G (p.Asp21377Gly) c.53984A>G (p.Asp17995Gly) | gnomAD v4 |
2 | g.178551665T>G | CA349502766 | TTN,TTN-AS1 | c.83531A>C (p.Asp27844Ala) c.64616A>C (p.Asp21539Ala) c.64415A>C (p.Asp21472Ala) c.64040A>C (p.Asp21347Ala) c.91235A>C (p.Asp30412Ala) c.86312A>C (p.Asp28771Ala) n.447-19635T>G n.2043+9304T>G c.90332A>C (p.Asp30111Ala) c.64226A>C (p.Asp21409Ala) c.64085A>C (p.Asp21362Ala) c.90128A>C (p.Asp30043Ala) c.85526A>C (p.Asp28509Ala) c.85523A>C (p.Asp28508Ala) c.82565A>C (p.Asp27522Ala) c.64181A>C (p.Asp21394Ala) c.85676A>C (p.Asp28559Ala) c.85673A>C (p.Asp28558Ala) c.85106A>C (p.Asp28369Ala) c.82448A>C (p.Asp27483Ala) c.82367A>C (p.Asp27456Ala) c.64130A>C (p.Asp21377Ala) c.53984A>C (p.Asp17995Ala) | |
2 | g.178551666C>A | CA349502770 | TTN,TTN-AS1 | c.83530G>T (p.Asp27844Tyr) c.64615G>T (p.Asp21539Tyr) c.64414G>T (p.Asp21472Tyr) c.64039G>T (p.Asp21347Tyr) c.91234G>T (p.Asp30412Tyr) c.86311G>T (p.Asp28771Tyr) n.447-19634C>A n.2043+9305C>A c.90331G>T (p.Asp30111Tyr) c.64225G>T (p.Asp21409Tyr) c.64084G>T (p.Asp21362Tyr) c.90127G>T (p.Asp30043Tyr) c.85525G>T (p.Asp28509Tyr) c.85522G>T (p.Asp28508Tyr) c.82564G>T (p.Asp27522Tyr) c.64180G>T (p.Asp21394Tyr) c.85675G>T (p.Asp28559Tyr) c.85672G>T (p.Asp28558Tyr) c.85105G>T (p.Asp28369Tyr) c.82447G>T (p.Asp27483Tyr) c.82366G>T (p.Asp27456Tyr) c.64129G>T (p.Asp21377Tyr) c.53983G>T (p.Asp17995Tyr) | dbSNP |
2 | g.178551666C= | CA1310521137 | TTN,TTN-AS1 | c.83530G= (p.Asp27844=) c.64615G= (p.Asp21539=) c.64414G= (p.Asp21472=) c.64039G= (p.Asp21347=) c.91234G= (p.Asp30412=) c.86311G= (p.Asp28771=) n.447-19634C= n.2043+9305C= c.90331G= (p.Asp30111=) c.64225G= (p.Asp21409=) c.64084G= (p.Asp21362=) c.90127G= (p.Asp30043=) c.85525G= (p.Asp28509=) c.85522G= (p.Asp28508=) c.82564G= (p.Asp27522=) c.64180G= (p.Asp21394=) c.85675G= (p.Asp28559=) c.85672G= (p.Asp28558=) c.85105G= (p.Asp28369=) c.82447G= (p.Asp27483=) c.82366G= (p.Asp27456=) c.64129G= (p.Asp21377=) c.53983G= (p.Asp17995=) | |
2 | g.178551666C>G | CA349502771 | TTN,TTN-AS1 | c.83530G>C (p.Asp27844His) c.64615G>C (p.Asp21539His) c.64414G>C (p.Asp21472His) c.64039G>C (p.Asp21347His) c.91234G>C (p.Asp30412His) c.86311G>C (p.Asp28771His) n.447-19634C>G n.2043+9305C>G c.90331G>C (p.Asp30111His) c.64225G>C (p.Asp21409His) c.64084G>C (p.Asp21362His) c.90127G>C (p.Asp30043His) c.85525G>C (p.Asp28509His) c.85522G>C (p.Asp28508His) c.82564G>C (p.Asp27522His) c.64180G>C (p.Asp21394His) c.85675G>C (p.Asp28559His) c.85672G>C (p.Asp28558His) c.85105G>C (p.Asp28369His) c.82447G>C (p.Asp27483His) c.82366G>C (p.Asp27456His) c.64129G>C (p.Asp21377His) c.53983G>C (p.Asp17995His) | |
2 | g.178551666C>T | CA349502774 | TTN,TTN-AS1 | c.83530G>A (p.Asp27844Asn) c.64615G>A (p.Asp21539Asn) c.64414G>A (p.Asp21472Asn) c.64039G>A (p.Asp21347Asn) c.91234G>A (p.Asp30412Asn) c.86311G>A (p.Asp28771Asn) n.447-19634C>T n.2043+9305C>T c.90331G>A (p.Asp30111Asn) c.64225G>A (p.Asp21409Asn) c.64084G>A (p.Asp21362Asn) c.90127G>A (p.Asp30043Asn) c.85525G>A (p.Asp28509Asn) c.85522G>A (p.Asp28508Asn) c.82564G>A (p.Asp27522Asn) c.64180G>A (p.Asp21394Asn) c.85675G>A (p.Asp28559Asn) c.85672G>A (p.Asp28558Asn) c.85105G>A (p.Asp28369Asn) c.82447G>A (p.Asp27483Asn) c.82366G>A (p.Asp27456Asn) c.64129G>A (p.Asp21377Asn) c.53983G>A (p.Asp17995Asn) | gnomAD v4 |
2 | g.178551667A>C | CA349502781 | TTN,TTN-AS1 | c.83529T>G (p.Ser27843Arg) c.64614T>G (p.Ser21538Arg) c.64413T>G (p.Ser21471Arg) c.64038T>G (p.Ser21346Arg) c.91233T>G (p.Ser30411Arg) c.86310T>G (p.Ser28770Arg) n.447-19633A>C n.2043+9306A>C c.90330T>G (p.Ser30110Arg) c.64224T>G (p.Ser21408Arg) c.64083T>G (p.Ser21361Arg) c.90126T>G (p.Ser30042Arg) c.85524T>G (p.Ser28508Arg) c.85521T>G (p.Ser28507Arg) c.82563T>G (p.Ser27521Arg) c.64179T>G (p.Ser21393Arg) c.85674T>G (p.Ser28558Arg) c.85671T>G (p.Ser28557Arg) c.85104T>G (p.Ser28368Arg) c.82446T>G (p.Ser27482Arg) c.82365T>G (p.Ser27455Arg) c.64128T>G (p.Ser21376Arg) c.53982T>G (p.Ser17994Arg) | |
2 | g.178551667A>G | CA430104047 | TTN,TTN-AS1 | c.83529T>C (p.Ser27843=) c.64614T>C (p.Ser21538=) c.64413T>C (p.Ser21471=) c.64038T>C (p.Ser21346=) c.91233T>C (p.Ser30411=) c.86310T>C (p.Ser28770=) n.447-19633A>G n.2043+9306A>G c.90330T>C (p.Ser30110=) c.64224T>C (p.Ser21408=) c.64083T>C (p.Ser21361=) c.90126T>C (p.Ser30042=) c.85524T>C (p.Ser28508=) c.85521T>C (p.Ser28507=) c.82563T>C (p.Ser27521=) c.64179T>C (p.Ser21393=) c.85674T>C (p.Ser28558=) c.85671T>C (p.Ser28557=) c.85104T>C (p.Ser28368=) c.82446T>C (p.Ser27482=) c.82365T>C (p.Ser27455=) c.64128T>C (p.Ser21376=) c.53982T>C (p.Ser17994=) | |
2 | g.178551667A>T | CA349502777 | TTN,TTN-AS1 | c.83529T>A (p.Ser27843Arg) c.64614T>A (p.Ser21538Arg) c.64413T>A (p.Ser21471Arg) c.64038T>A (p.Ser21346Arg) c.91233T>A (p.Ser30411Arg) c.86310T>A (p.Ser28770Arg) n.447-19633A>T n.2043+9306A>T c.90330T>A (p.Ser30110Arg) c.64224T>A (p.Ser21408Arg) c.64083T>A (p.Ser21361Arg) c.90126T>A (p.Ser30042Arg) c.85524T>A (p.Ser28508Arg) c.85521T>A (p.Ser28507Arg) c.82563T>A (p.Ser27521Arg) c.64179T>A (p.Ser21393Arg) c.85674T>A (p.Ser28558Arg) c.85671T>A (p.Ser28557Arg) c.85104T>A (p.Ser28368Arg) c.82446T>A (p.Ser27482Arg) c.82365T>A (p.Ser27455Arg) c.64128T>A (p.Ser21376Arg) c.53982T>A (p.Ser17994Arg) | |
2 | g.178551668C>A | CA349502784 | TTN,TTN-AS1 | c.83528G>T (p.Ser27843Ile) c.64613G>T (p.Ser21538Ile) c.64412G>T (p.Ser21471Ile) c.64037G>T (p.Ser21346Ile) c.91232G>T (p.Ser30411Ile) c.86309G>T (p.Ser28770Ile) n.447-19632C>A n.2043+9307C>A c.90329G>T (p.Ser30110Ile) c.64223G>T (p.Ser21408Ile) c.64082G>T (p.Ser21361Ile) c.90125G>T (p.Ser30042Ile) c.85523G>T (p.Ser28508Ile) c.85520G>T (p.Ser28507Ile) c.82562G>T (p.Ser27521Ile) c.64178G>T (p.Ser21393Ile) c.85673G>T (p.Ser28558Ile) c.85670G>T (p.Ser28557Ile) c.85103G>T (p.Ser28368Ile) c.82445G>T (p.Ser27482Ile) c.82364G>T (p.Ser27455Ile) c.64127G>T (p.Ser21376Ile) c.53981G>T (p.Ser17994Ile) | |
2 | g.178551668C= | CA1310521138 | TTN,TTN-AS1 | c.83528G= (p.Ser27843=) c.64613G= (p.Ser21538=) c.64412G= (p.Ser21471=) c.64037G= (p.Ser21346=) c.91232G= (p.Ser30411=) c.86309G= (p.Ser28770=) n.447-19632C= n.2043+9307C= c.90329G= (p.Ser30110=) c.64223G= (p.Ser21408=) c.64082G= (p.Ser21361=) c.90125G= (p.Ser30042=) c.85523G= (p.Ser28508=) c.85520G= (p.Ser28507=) c.82562G= (p.Ser27521=) c.64178G= (p.Ser21393=) c.85673G= (p.Ser28558=) c.85670G= (p.Ser28557=) c.85103G= (p.Ser28368=) c.82445G= (p.Ser27482=) c.82364G= (p.Ser27455=) c.64127G= (p.Ser21376=) c.53981G= (p.Ser17994=) | |
2 | g.178551668C>G | CA349502786 | TTN,TTN-AS1 | c.83528G>C (p.Ser27843Thr) c.64613G>C (p.Ser21538Thr) c.64412G>C (p.Ser21471Thr) c.64037G>C (p.Ser21346Thr) c.91232G>C (p.Ser30411Thr) c.86309G>C (p.Ser28770Thr) n.447-19632C>G n.2043+9307C>G c.90329G>C (p.Ser30110Thr) c.64223G>C (p.Ser21408Thr) c.64082G>C (p.Ser21361Thr) c.90125G>C (p.Ser30042Thr) c.85523G>C (p.Ser28508Thr) c.85520G>C (p.Ser28507Thr) c.82562G>C (p.Ser27521Thr) c.64178G>C (p.Ser21393Thr) c.85673G>C (p.Ser28558Thr) c.85670G>C (p.Ser28557Thr) c.85103G>C (p.Ser28368Thr) c.82445G>C (p.Ser27482Thr) c.82364G>C (p.Ser27455Thr) c.64127G>C (p.Ser21376Thr) c.53981G>C (p.Ser17994Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178551668C>T | CA349502792 | TTN,TTN-AS1 | c.83528G>A (p.Ser27843Asn) c.64613G>A (p.Ser21538Asn) c.64412G>A (p.Ser21471Asn) c.64037G>A (p.Ser21346Asn) c.91232G>A (p.Ser30411Asn) c.86309G>A (p.Ser28770Asn) n.447-19632C>T n.2043+9307C>T c.90329G>A (p.Ser30110Asn) c.64223G>A (p.Ser21408Asn) c.64082G>A (p.Ser21361Asn) c.90125G>A (p.Ser30042Asn) c.85523G>A (p.Ser28508Asn) c.85520G>A (p.Ser28507Asn) c.82562G>A (p.Ser27521Asn) c.64178G>A (p.Ser21393Asn) c.85673G>A (p.Ser28558Asn) c.85670G>A (p.Ser28557Asn) c.85103G>A (p.Ser28368Asn) c.82445G>A (p.Ser27482Asn) c.82364G>A (p.Ser27455Asn) c.64127G>A (p.Ser21376Asn) c.53981G>A (p.Ser17994Asn) | gnomAD v4 |
2 | g.178551669T>A | CA349502801 | TTN,TTN-AS1 | c.83527A>T (p.Ser27843Cys) c.64612A>T (p.Ser21538Cys) c.64411A>T (p.Ser21471Cys) c.64036A>T (p.Ser21346Cys) c.91231A>T (p.Ser30411Cys) c.86308A>T (p.Ser28770Cys) n.447-19631T>A n.2043+9308T>A c.90328A>T (p.Ser30110Cys) c.64222A>T (p.Ser21408Cys) c.64081A>T (p.Ser21361Cys) c.90124A>T (p.Ser30042Cys) c.85522A>T (p.Ser28508Cys) c.85519A>T (p.Ser28507Cys) c.82561A>T (p.Ser27521Cys) c.64177A>T (p.Ser21393Cys) c.85672A>T (p.Ser28558Cys) c.85669A>T (p.Ser28557Cys) c.85102A>T (p.Ser28368Cys) c.82444A>T (p.Ser27482Cys) c.82363A>T (p.Ser27455Cys) c.64126A>T (p.Ser21376Cys) c.53980A>T (p.Ser17994Cys) | |
2 | g.178551669T>C | CA349502802 | TTN,TTN-AS1 | c.83527A>G (p.Ser27843Gly) c.64612A>G (p.Ser21538Gly) c.64411A>G (p.Ser21471Gly) c.64036A>G (p.Ser21346Gly) c.91231A>G (p.Ser30411Gly) c.86308A>G (p.Ser28770Gly) n.447-19631T>C n.2043+9308T>C c.90328A>G (p.Ser30110Gly) c.64222A>G (p.Ser21408Gly) c.64081A>G (p.Ser21361Gly) c.90124A>G (p.Ser30042Gly) c.85522A>G (p.Ser28508Gly) c.85519A>G (p.Ser28507Gly) c.82561A>G (p.Ser27521Gly) c.64177A>G (p.Ser21393Gly) c.85672A>G (p.Ser28558Gly) c.85669A>G (p.Ser28557Gly) c.85102A>G (p.Ser28368Gly) c.82444A>G (p.Ser27482Gly) c.82363A>G (p.Ser27455Gly) c.64126A>G (p.Ser21376Gly) c.53980A>G (p.Ser17994Gly) | |
2 | g.178551669T>G | CA349502803 | TTN,TTN-AS1 | c.83527A>C (p.Ser27843Arg) c.64612A>C (p.Ser21538Arg) c.64411A>C (p.Ser21471Arg) c.64036A>C (p.Ser21346Arg) c.91231A>C (p.Ser30411Arg) c.86308A>C (p.Ser28770Arg) n.447-19631T>G n.2043+9308T>G c.90328A>C (p.Ser30110Arg) c.64222A>C (p.Ser21408Arg) c.64081A>C (p.Ser21361Arg) c.90124A>C (p.Ser30042Arg) c.85522A>C (p.Ser28508Arg) c.85519A>C (p.Ser28507Arg) c.82561A>C (p.Ser27521Arg) c.64177A>C (p.Ser21393Arg) c.85672A>C (p.Ser28558Arg) c.85669A>C (p.Ser28557Arg) c.85102A>C (p.Ser28368Arg) c.82444A>C (p.Ser27482Arg) c.82363A>C (p.Ser27455Arg) c.64126A>C (p.Ser21376Arg) c.53980A>C (p.Ser17994Arg) | |
2 | g.178551670A>C | CA430104048 | TTN,TTN-AS1 | c.83526T>G (p.Pro27842=) c.64611T>G (p.Pro21537=) c.64410T>G (p.Pro21470=) c.64035T>G (p.Pro21345=) c.91230T>G (p.Pro30410=) c.86307T>G (p.Pro28769=) n.447-19630A>C n.2043+9309A>C c.90327T>G (p.Pro30109=) c.64221T>G (p.Pro21407=) c.64080T>G (p.Pro21360=) c.90123T>G (p.Pro30041=) c.85521T>G (p.Pro28507=) c.85518T>G (p.Pro28506=) c.82560T>G (p.Pro27520=) c.64176T>G (p.Pro21392=) c.85671T>G (p.Pro28557=) c.85668T>G (p.Pro28556=) c.85101T>G (p.Pro28367=) c.82443T>G (p.Pro27481=) c.82362T>G (p.Pro27454=) c.64125T>G (p.Pro21375=) c.53979T>G (p.Pro17993=) | |
2 | g.178551670A>G | CA430104052 | TTN,TTN-AS1 | c.83526T>C (p.Pro27842=) c.64611T>C (p.Pro21537=) c.64410T>C (p.Pro21470=) c.64035T>C (p.Pro21345=) c.91230T>C (p.Pro30410=) c.86307T>C (p.Pro28769=) n.447-19630A>G n.2043+9309A>G c.90327T>C (p.Pro30109=) c.64221T>C (p.Pro21407=) c.64080T>C (p.Pro21360=) c.90123T>C (p.Pro30041=) c.85521T>C (p.Pro28507=) c.85518T>C (p.Pro28506=) c.82560T>C (p.Pro27520=) c.64176T>C (p.Pro21392=) c.85671T>C (p.Pro28557=) c.85668T>C (p.Pro28556=) c.85101T>C (p.Pro28367=) c.82443T>C (p.Pro27481=) c.82362T>C (p.Pro27454=) c.64125T>C (p.Pro21375=) c.53979T>C (p.Pro17993=) | |
2 | g.178551670A>T | CA430104050 | TTN,TTN-AS1 | c.83526T>A (p.Pro27842=) c.64611T>A (p.Pro21537=) c.64410T>A (p.Pro21470=) c.64035T>A (p.Pro21345=) c.91230T>A (p.Pro30410=) c.86307T>A (p.Pro28769=) n.447-19630A>T n.2043+9309A>T c.90327T>A (p.Pro30109=) c.64221T>A (p.Pro21407=) c.64080T>A (p.Pro21360=) c.90123T>A (p.Pro30041=) c.85521T>A (p.Pro28507=) c.85518T>A (p.Pro28506=) c.82560T>A (p.Pro27520=) c.64176T>A (p.Pro21392=) c.85671T>A (p.Pro28557=) c.85668T>A (p.Pro28556=) c.85101T>A (p.Pro28367=) c.82443T>A (p.Pro27481=) c.82362T>A (p.Pro27454=) c.64125T>A (p.Pro21375=) c.53979T>A (p.Pro17993=) | |
2 | g.178551671G>A | CA349502808 | TTN,TTN-AS1 | c.83525C>T (p.Pro27842Leu) c.64610C>T (p.Pro21537Leu) c.64409C>T (p.Pro21470Leu) c.64034C>T (p.Pro21345Leu) c.91229C>T (p.Pro30410Leu) c.86306C>T (p.Pro28769Leu) n.447-19629G>A n.2043+9310G>A c.90326C>T (p.Pro30109Leu) c.64220C>T (p.Pro21407Leu) c.64079C>T (p.Pro21360Leu) c.90122C>T (p.Pro30041Leu) c.85520C>T (p.Pro28507Leu) c.85517C>T (p.Pro28506Leu) c.82559C>T (p.Pro27520Leu) c.64175C>T (p.Pro21392Leu) c.85670C>T (p.Pro28557Leu) c.85667C>T (p.Pro28556Leu) c.85100C>T (p.Pro28367Leu) c.82442C>T (p.Pro27481Leu) c.82361C>T (p.Pro27454Leu) c.64124C>T (p.Pro21375Leu) c.53978C>T (p.Pro17993Leu) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178551671G>C | CA349502816 | TTN,TTN-AS1 | c.83525C>G (p.Pro27842Arg) c.64610C>G (p.Pro21537Arg) c.64409C>G (p.Pro21470Arg) c.64034C>G (p.Pro21345Arg) c.91229C>G (p.Pro30410Arg) c.86306C>G (p.Pro28769Arg) n.447-19629G>C n.2043+9310G>C c.90326C>G (p.Pro30109Arg) c.64220C>G (p.Pro21407Arg) c.64079C>G (p.Pro21360Arg) c.90122C>G (p.Pro30041Arg) c.85520C>G (p.Pro28507Arg) c.85517C>G (p.Pro28506Arg) c.82559C>G (p.Pro27520Arg) c.64175C>G (p.Pro21392Arg) c.85670C>G (p.Pro28557Arg) c.85667C>G (p.Pro28556Arg) c.85100C>G (p.Pro28367Arg) c.82442C>G (p.Pro27481Arg) c.82361C>G (p.Pro27454Arg) c.64124C>G (p.Pro21375Arg) c.53978C>G (p.Pro17993Arg) | |
2 | g.178551671G>T | CA349502813 | TTN,TTN-AS1 | c.83525C>A (p.Pro27842His) c.64610C>A (p.Pro21537His) c.64409C>A (p.Pro21470His) c.64034C>A (p.Pro21345His) c.91229C>A (p.Pro30410His) c.86306C>A (p.Pro28769His) n.447-19629G>T n.2043+9310G>T c.90326C>A (p.Pro30109His) c.64220C>A (p.Pro21407His) c.64079C>A (p.Pro21360His) c.90122C>A (p.Pro30041His) c.85520C>A (p.Pro28507His) c.85517C>A (p.Pro28506His) c.82559C>A (p.Pro27520His) c.64175C>A (p.Pro21392His) c.85670C>A (p.Pro28557His) c.85667C>A (p.Pro28556His) c.85100C>A (p.Pro28367His) c.82442C>A (p.Pro27481His) c.82361C>A (p.Pro27454His) c.64124C>A (p.Pro21375His) c.53978C>A (p.Pro17993His) | |
2 | g.178551672G>A | CA349502818 | TTN,TTN-AS1 | c.83524C>T (p.Pro27842Ser) c.64609C>T (p.Pro21537Ser) c.64408C>T (p.Pro21470Ser) c.64033C>T (p.Pro21345Ser) c.91228C>T (p.Pro30410Ser) c.86305C>T (p.Pro28769Ser) n.447-19628G>A n.2043+9311G>A c.90325C>T (p.Pro30109Ser) c.64219C>T (p.Pro21407Ser) c.64078C>T (p.Pro21360Ser) c.90121C>T (p.Pro30041Ser) c.85519C>T (p.Pro28507Ser) c.85516C>T (p.Pro28506Ser) c.82558C>T (p.Pro27520Ser) c.64174C>T (p.Pro21392Ser) c.85669C>T (p.Pro28557Ser) c.85666C>T (p.Pro28556Ser) c.85099C>T (p.Pro28367Ser) c.82441C>T (p.Pro27481Ser) c.82360C>T (p.Pro27454Ser) c.64123C>T (p.Pro21375Ser) c.53977C>T (p.Pro17993Ser) | |
2 | g.178551672G>C | CA349502824 | TTN,TTN-AS1 | c.83524C>G (p.Pro27842Ala) c.64609C>G (p.Pro21537Ala) c.64408C>G (p.Pro21470Ala) c.64033C>G (p.Pro21345Ala) c.91228C>G (p.Pro30410Ala) c.86305C>G (p.Pro28769Ala) n.447-19628G>C n.2043+9311G>C c.90325C>G (p.Pro30109Ala) c.64219C>G (p.Pro21407Ala) c.64078C>G (p.Pro21360Ala) c.90121C>G (p.Pro30041Ala) c.85519C>G (p.Pro28507Ala) c.85516C>G (p.Pro28506Ala) c.82558C>G (p.Pro27520Ala) c.64174C>G (p.Pro21392Ala) c.85669C>G (p.Pro28557Ala) c.85666C>G (p.Pro28556Ala) c.85099C>G (p.Pro28367Ala) c.82441C>G (p.Pro27481Ala) c.82360C>G (p.Pro27454Ala) c.64123C>G (p.Pro21375Ala) c.53977C>G (p.Pro17993Ala) | |
2 | g.178551672G>T | CA349502825 | TTN,TTN-AS1 | c.83524C>A (p.Pro27842Thr) c.64609C>A (p.Pro21537Thr) c.64408C>A (p.Pro21470Thr) c.64033C>A (p.Pro21345Thr) c.91228C>A (p.Pro30410Thr) c.86305C>A (p.Pro28769Thr) n.447-19628G>T n.2043+9311G>T c.90325C>A (p.Pro30109Thr) c.64219C>A (p.Pro21407Thr) c.64078C>A (p.Pro21360Thr) c.90121C>A (p.Pro30041Thr) c.85519C>A (p.Pro28507Thr) c.85516C>A (p.Pro28506Thr) c.82558C>A (p.Pro27520Thr) c.64174C>A (p.Pro21392Thr) c.85669C>A (p.Pro28557Thr) c.85666C>A (p.Pro28556Thr) c.85099C>A (p.Pro28367Thr) c.82441C>A (p.Pro27481Thr) c.82360C>A (p.Pro27454Thr) c.64123C>A (p.Pro21375Thr) c.53977C>A (p.Pro17993Thr) | |
2 | g.178551673T>A | CA430104054 | TTN,TTN-AS1 | c.83523A>T (p.Ser27841=) c.64608A>T (p.Ser21536=) c.64407A>T (p.Ser21469=) c.64032A>T (p.Ser21344=) c.91227A>T (p.Ser30409=) c.86304A>T (p.Ser28768=) n.447-19627T>A n.2043+9312T>A c.90324A>T (p.Ser30108=) c.64218A>T (p.Ser21406=) c.64077A>T (p.Ser21359=) c.90120A>T (p.Ser30040=) c.85518A>T (p.Ser28506=) c.85515A>T (p.Ser28505=) c.82557A>T (p.Ser27519=) c.64173A>T (p.Ser21391=) c.85668A>T (p.Ser28556=) c.85665A>T (p.Ser28555=) c.85098A>T (p.Ser28366=) c.82440A>T (p.Ser27480=) c.82359A>T (p.Ser27453=) c.64122A>T (p.Ser21374=) c.53976A>T (p.Ser17992=) | |
2 | g.178551673T>C | CA430104056 | TTN,TTN-AS1 | c.83523A>G (p.Ser27841=) c.64608A>G (p.Ser21536=) c.64407A>G (p.Ser21469=) c.64032A>G (p.Ser21344=) c.91227A>G (p.Ser30409=) c.86304A>G (p.Ser28768=) n.447-19627T>C n.2043+9312T>C c.90324A>G (p.Ser30108=) c.64218A>G (p.Ser21406=) c.64077A>G (p.Ser21359=) c.90120A>G (p.Ser30040=) c.85518A>G (p.Ser28506=) c.85515A>G (p.Ser28505=) c.82557A>G (p.Ser27519=) c.64173A>G (p.Ser21391=) c.85668A>G (p.Ser28556=) c.85665A>G (p.Ser28555=) c.85098A>G (p.Ser28366=) c.82440A>G (p.Ser27480=) c.82359A>G (p.Ser27453=) c.64122A>G (p.Ser21374=) c.53976A>G (p.Ser17992=) | |
2 | g.178551673T>G | CA430104058 | TTN,TTN-AS1 | c.83523A>C (p.Ser27841=) c.64608A>C (p.Ser21536=) c.64407A>C (p.Ser21469=) c.64032A>C (p.Ser21344=) c.91227A>C (p.Ser30409=) c.86304A>C (p.Ser28768=) n.447-19627T>G n.2043+9312T>G c.90324A>C (p.Ser30108=) c.64218A>C (p.Ser21406=) c.64077A>C (p.Ser21359=) c.90120A>C (p.Ser30040=) c.85518A>C (p.Ser28506=) c.85515A>C (p.Ser28505=) c.82557A>C (p.Ser27519=) c.64173A>C (p.Ser21391=) c.85668A>C (p.Ser28556=) c.85665A>C (p.Ser28555=) c.85098A>C (p.Ser28366=) c.82440A>C (p.Ser27480=) c.82359A>C (p.Ser27453=) c.64122A>C (p.Ser21374=) c.53976A>C (p.Ser17992=) | |
2 | g.178551674G>A | CA60977073 | TTN,TTN-AS1 | c.83522C>T (p.Ser27841Leu) c.64607C>T (p.Ser21536Leu) c.64406C>T (p.Ser21469Leu) c.64031C>T (p.Ser21344Leu) c.91226C>T (p.Ser30409Leu) c.86303C>T (p.Ser28768Leu) n.447-19626G>A n.2043+9313G>A c.90323C>T (p.Ser30108Leu) c.64217C>T (p.Ser21406Leu) c.64076C>T (p.Ser21359Leu) c.90119C>T (p.Ser30040Leu) c.85517C>T (p.Ser28506Leu) c.85514C>T (p.Ser28505Leu) c.82556C>T (p.Ser27519Leu) c.64172C>T (p.Ser21391Leu) c.85667C>T (p.Ser28556Leu) c.85664C>T (p.Ser28555Leu) c.85097C>T (p.Ser28366Leu) c.82439C>T (p.Ser27480Leu) c.82358C>T (p.Ser27453Leu) c.64121C>T (p.Ser21374Leu) c.53975C>T (p.Ser17992Leu) | dbSNP |
2 | g.178551674G>C | CA349502838 | TTN,TTN-AS1 | c.83522C>G (p.Ser27841Ter) c.64607C>G (p.Ser21536Ter) c.64406C>G (p.Ser21469Ter) c.64031C>G (p.Ser21344Ter) c.91226C>G (p.Ser30409Ter) c.86303C>G (p.Ser28768Ter) n.447-19626G>C n.2043+9313G>C c.90323C>G (p.Ser30108Ter) c.64217C>G (p.Ser21406Ter) c.64076C>G (p.Ser21359Ter) c.90119C>G (p.Ser30040Ter) c.85517C>G (p.Ser28506Ter) c.85514C>G (p.Ser28505Ter) c.82556C>G (p.Ser27519Ter) c.64172C>G (p.Ser21391Ter) c.85667C>G (p.Ser28556Ter) c.85664C>G (p.Ser28555Ter) c.85097C>G (p.Ser28366Ter) c.82439C>G (p.Ser27480Ter) c.82358C>G (p.Ser27453Ter) c.64121C>G (p.Ser21374Ter) c.53975C>G (p.Ser17992Ter) | |
2 | g.178551674G= | CA1310521140 | TTN,TTN-AS1 | c.83522C= (p.Ser27841=) c.64607C= (p.Ser21536=) c.64406C= (p.Ser21469=) c.64031C= (p.Ser21344=) c.91226C= (p.Ser30409=) c.86303C= (p.Ser28768=) n.447-19626G= n.2043+9313G= c.90323C= (p.Ser30108=) c.64217C= (p.Ser21406=) c.64076C= (p.Ser21359=) c.90119C= (p.Ser30040=) c.85517C= (p.Ser28506=) c.85514C= (p.Ser28505=) c.82556C= (p.Ser27519=) c.64172C= (p.Ser21391=) c.85667C= (p.Ser28556=) c.85664C= (p.Ser28555=) c.85097C= (p.Ser28366=) c.82439C= (p.Ser27480=) c.82358C= (p.Ser27453=) c.64121C= (p.Ser21374=) c.53975C= (p.Ser17992=) | |
2 | g.178551674G>T | CA349502840 | TTN,TTN-AS1 | c.83522C>A (p.Ser27841Ter) c.64607C>A (p.Ser21536Ter) c.64406C>A (p.Ser21469Ter) c.64031C>A (p.Ser21344Ter) c.91226C>A (p.Ser30409Ter) c.86303C>A (p.Ser28768Ter) n.447-19626G>T n.2043+9313G>T c.90323C>A (p.Ser30108Ter) c.64217C>A (p.Ser21406Ter) c.64076C>A (p.Ser21359Ter) c.90119C>A (p.Ser30040Ter) c.85517C>A (p.Ser28506Ter) c.85514C>A (p.Ser28505Ter) c.82556C>A (p.Ser27519Ter) c.64172C>A (p.Ser21391Ter) c.85667C>A (p.Ser28556Ter) c.85664C>A (p.Ser28555Ter) c.85097C>A (p.Ser28366Ter) c.82439C>A (p.Ser27480Ter) c.82358C>A (p.Ser27453Ter) c.64121C>A (p.Ser21374Ter) c.53975C>A (p.Ser17992Ter) | |
2 | g.178551675A>C | CA349502845 | TTN,TTN-AS1 | c.83521T>G (p.Ser27841Ala) c.64606T>G (p.Ser21536Ala) c.64405T>G (p.Ser21469Ala) c.64030T>G (p.Ser21344Ala) c.91225T>G (p.Ser30409Ala) c.86302T>G (p.Ser28768Ala) n.447-19625A>C n.2043+9314A>C c.90322T>G (p.Ser30108Ala) c.64216T>G (p.Ser21406Ala) c.64075T>G (p.Ser21359Ala) c.90118T>G (p.Ser30040Ala) c.85516T>G (p.Ser28506Ala) c.85513T>G (p.Ser28505Ala) c.82555T>G (p.Ser27519Ala) c.64171T>G (p.Ser21391Ala) c.85666T>G (p.Ser28556Ala) c.85663T>G (p.Ser28555Ala) c.85096T>G (p.Ser28366Ala) c.82438T>G (p.Ser27480Ala) c.82357T>G (p.Ser27453Ala) c.64120T>G (p.Ser21374Ala) c.53974T>G (p.Ser17992Ala) | |
2 | g.178551675A>G | CA349502846 | TTN,TTN-AS1 | c.83521T>C (p.Ser27841Pro) c.64606T>C (p.Ser21536Pro) c.64405T>C (p.Ser21469Pro) c.64030T>C (p.Ser21344Pro) c.91225T>C (p.Ser30409Pro) c.86302T>C (p.Ser28768Pro) n.447-19625A>G n.2043+9314A>G c.90322T>C (p.Ser30108Pro) c.64216T>C (p.Ser21406Pro) c.64075T>C (p.Ser21359Pro) c.90118T>C (p.Ser30040Pro) c.85516T>C (p.Ser28506Pro) c.85513T>C (p.Ser28505Pro) c.82555T>C (p.Ser27519Pro) c.64171T>C (p.Ser21391Pro) c.85666T>C (p.Ser28556Pro) c.85663T>C (p.Ser28555Pro) c.85096T>C (p.Ser28366Pro) c.82438T>C (p.Ser27480Pro) c.82357T>C (p.Ser27453Pro) c.64120T>C (p.Ser21374Pro) c.53974T>C (p.Ser17992Pro) | |
2 | g.178551675A>T | CA349502855 | TTN,TTN-AS1 | c.83521T>A (p.Ser27841Thr) c.64606T>A (p.Ser21536Thr) c.64405T>A (p.Ser21469Thr) c.64030T>A (p.Ser21344Thr) c.91225T>A (p.Ser30409Thr) c.86302T>A (p.Ser28768Thr) n.447-19625A>T n.2043+9314A>T c.90322T>A (p.Ser30108Thr) c.64216T>A (p.Ser21406Thr) c.64075T>A (p.Ser21359Thr) c.90118T>A (p.Ser30040Thr) c.85516T>A (p.Ser28506Thr) c.85513T>A (p.Ser28505Thr) c.82555T>A (p.Ser27519Thr) c.64171T>A (p.Ser21391Thr) c.85666T>A (p.Ser28556Thr) c.85663T>A (p.Ser28555Thr) c.85096T>A (p.Ser28366Thr) c.82438T>A (p.Ser27480Thr) c.82357T>A (p.Ser27453Thr) c.64120T>A (p.Ser21374Thr) c.53974T>A (p.Ser17992Thr) | |
2 | g.178551676G>A | CA16603867 | TTN,TTN-AS1 | c.83520C>T (p.Ser27840=) c.64605C>T (p.Ser21535=) c.64404C>T (p.Ser21468=) c.64029C>T (p.Ser21343=) c.91224C>T (p.Ser30408=) c.86301C>T (p.Ser28767=) n.447-19624G>A n.2043+9315G>A c.90321C>T (p.Ser30107=) c.64215C>T (p.Ser21405=) c.64074C>T (p.Ser21358=) c.90117C>T (p.Ser30039=) c.85515C>T (p.Ser28505=) c.85512C>T (p.Ser28504=) c.82554C>T (p.Ser27518=) c.64170C>T (p.Ser21390=) c.85665C>T (p.Ser28555=) c.85662C>T (p.Ser28554=) c.85095C>T (p.Ser28365=) c.82437C>T (p.Ser27479=) c.82356C>T (p.Ser27452=) c.64119C>T (p.Ser21373=) c.53973C>T (p.Ser17991=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.178551676G>C | CA349502856 | TTN,TTN-AS1 | c.83520C>G (p.Ser27840Arg) c.64605C>G (p.Ser21535Arg) c.64404C>G (p.Ser21468Arg) c.64029C>G (p.Ser21343Arg) c.91224C>G (p.Ser30408Arg) c.86301C>G (p.Ser28767Arg) n.447-19624G>C n.2043+9315G>C c.90321C>G (p.Ser30107Arg) c.64215C>G (p.Ser21405Arg) c.64074C>G (p.Ser21358Arg) c.90117C>G (p.Ser30039Arg) c.85515C>G (p.Ser28505Arg) c.85512C>G (p.Ser28504Arg) c.82554C>G (p.Ser27518Arg) c.64170C>G (p.Ser21390Arg) c.85665C>G (p.Ser28555Arg) c.85662C>G (p.Ser28554Arg) c.85095C>G (p.Ser28365Arg) c.82437C>G (p.Ser27479Arg) c.82356C>G (p.Ser27452Arg) c.64119C>G (p.Ser21373Arg) c.53973C>G (p.Ser17991Arg) | |
2 | g.178551676G= | CA1310521142 | TTN,TTN-AS1 | c.83520C= (p.Ser27840=) c.64605C= (p.Ser21535=) c.64404C= (p.Ser21468=) c.64029C= (p.Ser21343=) c.91224C= (p.Ser30408=) c.86301C= (p.Ser28767=) n.447-19624G= n.2043+9315G= c.90321C= (p.Ser30107=) c.64215C= (p.Ser21405=) c.64074C= (p.Ser21358=) c.90117C= (p.Ser30039=) c.85515C= (p.Ser28505=) c.85512C= (p.Ser28504=) c.82554C= (p.Ser27518=) c.64170C= (p.Ser21390=) c.85665C= (p.Ser28555=) c.85662C= (p.Ser28554=) c.85095C= (p.Ser28365=) c.82437C= (p.Ser27479=) c.82356C= (p.Ser27452=) c.64119C= (p.Ser21373=) c.53973C= (p.Ser17991=) | |
2 | g.178551676G>T | CA349502857 | TTN,TTN-AS1 | c.83520C>A (p.Ser27840Arg) c.64605C>A (p.Ser21535Arg) c.64404C>A (p.Ser21468Arg) c.64029C>A (p.Ser21343Arg) c.91224C>A (p.Ser30408Arg) c.86301C>A (p.Ser28767Arg) n.447-19624G>T n.2043+9315G>T c.90321C>A (p.Ser30107Arg) c.64215C>A (p.Ser21405Arg) c.64074C>A (p.Ser21358Arg) c.90117C>A (p.Ser30039Arg) c.85515C>A (p.Ser28505Arg) c.85512C>A (p.Ser28504Arg) c.82554C>A (p.Ser27518Arg) c.64170C>A (p.Ser21390Arg) c.85665C>A (p.Ser28555Arg) c.85662C>A (p.Ser28554Arg) c.85095C>A (p.Ser28365Arg) c.82437C>A (p.Ser27479Arg) c.82356C>A (p.Ser27452Arg) c.64119C>A (p.Ser21373Arg) c.53973C>A (p.Ser17991Arg) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178551677C>A | CA349502862 | TTN,TTN-AS1 | c.83519G>T (p.Ser27840Ile) c.64604G>T (p.Ser21535Ile) c.64403G>T (p.Ser21468Ile) c.64028G>T (p.Ser21343Ile) c.91223G>T (p.Ser30408Ile) c.86300G>T (p.Ser28767Ile) n.447-19623C>A n.2043+9316C>A c.90320G>T (p.Ser30107Ile) c.64214G>T (p.Ser21405Ile) c.64073G>T (p.Ser21358Ile) c.90116G>T (p.Ser30039Ile) c.85514G>T (p.Ser28505Ile) c.85511G>T (p.Ser28504Ile) c.82553G>T (p.Ser27518Ile) c.64169G>T (p.Ser21390Ile) c.85664G>T (p.Ser28555Ile) c.85661G>T (p.Ser28554Ile) c.85094G>T (p.Ser28365Ile) c.82436G>T (p.Ser27479Ile) c.82355G>T (p.Ser27452Ile) c.64118G>T (p.Ser21373Ile) c.53972G>T (p.Ser17991Ile) | |
2 | g.178551677C>G | CA349502863 | TTN,TTN-AS1 | c.83519G>C (p.Ser27840Thr) c.64604G>C (p.Ser21535Thr) c.64403G>C (p.Ser21468Thr) c.64028G>C (p.Ser21343Thr) c.91223G>C (p.Ser30408Thr) c.86300G>C (p.Ser28767Thr) n.447-19623C>G n.2043+9316C>G c.90320G>C (p.Ser30107Thr) c.64214G>C (p.Ser21405Thr) c.64073G>C (p.Ser21358Thr) c.90116G>C (p.Ser30039Thr) c.85514G>C (p.Ser28505Thr) c.85511G>C (p.Ser28504Thr) c.82553G>C (p.Ser27518Thr) c.64169G>C (p.Ser21390Thr) c.85664G>C (p.Ser28555Thr) c.85661G>C (p.Ser28554Thr) c.85094G>C (p.Ser28365Thr) c.82436G>C (p.Ser27479Thr) c.82355G>C (p.Ser27452Thr) c.64118G>C (p.Ser21373Thr) c.53972G>C (p.Ser17991Thr) | |
2 | g.178551677C>T | CA349502860 | TTN,TTN-AS1 | c.83519G>A (p.Ser27840Asn) c.64604G>A (p.Ser21535Asn) c.64403G>A (p.Ser21468Asn) c.64028G>A (p.Ser21343Asn) c.91223G>A (p.Ser30408Asn) c.86300G>A (p.Ser28767Asn) n.447-19623C>T n.2043+9316C>T c.90320G>A (p.Ser30107Asn) c.64214G>A (p.Ser21405Asn) c.64073G>A (p.Ser21358Asn) c.90116G>A (p.Ser30039Asn) c.85514G>A (p.Ser28505Asn) c.85511G>A (p.Ser28504Asn) c.82553G>A (p.Ser27518Asn) c.64169G>A (p.Ser21390Asn) c.85664G>A (p.Ser28555Asn) c.85661G>A (p.Ser28554Asn) c.85094G>A (p.Ser28365Asn) c.82436G>A (p.Ser27479Asn) c.82355G>A (p.Ser27452Asn) c.64118G>A (p.Ser21373Asn) c.53972G>A (p.Ser17991Asn) | |
2 | g.178551678T>A | CA349502872 | TTN,TTN-AS1 | c.83518A>T (p.Ser27840Cys) c.64603A>T (p.Ser21535Cys) c.64402A>T (p.Ser21468Cys) c.64027A>T (p.Ser21343Cys) c.91222A>T (p.Ser30408Cys) c.86299A>T (p.Ser28767Cys) n.447-19622T>A n.2043+9317T>A c.90319A>T (p.Ser30107Cys) c.64213A>T (p.Ser21405Cys) c.64072A>T (p.Ser21358Cys) c.90115A>T (p.Ser30039Cys) c.85513A>T (p.Ser28505Cys) c.85510A>T (p.Ser28504Cys) c.82552A>T (p.Ser27518Cys) c.64168A>T (p.Ser21390Cys) c.85663A>T (p.Ser28555Cys) c.85660A>T (p.Ser28554Cys) c.85093A>T (p.Ser28365Cys) c.82435A>T (p.Ser27479Cys) c.82354A>T (p.Ser27452Cys) c.64117A>T (p.Ser21373Cys) c.53971A>T (p.Ser17991Cys) | |
2 | g.178551678T>C | CA349502866 | TTN,TTN-AS1 | c.83518A>G (p.Ser27840Gly) c.64603A>G (p.Ser21535Gly) c.64402A>G (p.Ser21468Gly) c.64027A>G (p.Ser21343Gly) c.91222A>G (p.Ser30408Gly) c.86299A>G (p.Ser28767Gly) n.447-19622T>C n.2043+9317T>C c.90319A>G (p.Ser30107Gly) c.64213A>G (p.Ser21405Gly) c.64072A>G (p.Ser21358Gly) c.90115A>G (p.Ser30039Gly) c.85513A>G (p.Ser28505Gly) c.85510A>G (p.Ser28504Gly) c.82552A>G (p.Ser27518Gly) c.64168A>G (p.Ser21390Gly) c.85663A>G (p.Ser28555Gly) c.85660A>G (p.Ser28554Gly) c.85093A>G (p.Ser28365Gly) c.82435A>G (p.Ser27479Gly) c.82354A>G (p.Ser27452Gly) c.64117A>G (p.Ser21373Gly) c.53971A>G (p.Ser17991Gly) | gnomAD v4 |
2 | g.178551678T>G | CA349502870 | TTN,TTN-AS1 | c.83518A>C (p.Ser27840Arg) c.64603A>C (p.Ser21535Arg) c.64402A>C (p.Ser21468Arg) c.64027A>C (p.Ser21343Arg) c.91222A>C (p.Ser30408Arg) c.86299A>C (p.Ser28767Arg) n.447-19622T>G n.2043+9317T>G c.90319A>C (p.Ser30107Arg) c.64213A>C (p.Ser21405Arg) c.64072A>C (p.Ser21358Arg) c.90115A>C (p.Ser30039Arg) c.85513A>C (p.Ser28505Arg) c.85510A>C (p.Ser28504Arg) c.82552A>C (p.Ser27518Arg) c.64168A>C (p.Ser21390Arg) c.85663A>C (p.Ser28555Arg) c.85660A>C (p.Ser28554Arg) c.85093A>C (p.Ser28365Arg) c.82435A>C (p.Ser27479Arg) c.82354A>C (p.Ser27452Arg) c.64117A>C (p.Ser21373Arg) c.53971A>C (p.Ser17991Arg) | gnomAD v4 |
2 | g.178551679T>A | CA430104065 | TTN,TTN-AS1 | c.83517A>T (p.Leu27839=) c.64602A>T (p.Leu21534=) c.64401A>T (p.Leu21467=) c.64026A>T (p.Leu21342=) c.91221A>T (p.Leu30407=) c.86298A>T (p.Leu28766=) n.447-19621T>A n.2043+9318T>A c.90318A>T (p.Leu30106=) c.64212A>T (p.Leu21404=) c.64071A>T (p.Leu21357=) c.90114A>T (p.Leu30038=) c.85512A>T (p.Leu28504=) c.85509A>T (p.Leu28503=) c.82551A>T (p.Leu27517=) c.64167A>T (p.Leu21389=) c.85662A>T (p.Leu28554=) c.85659A>T (p.Leu28553=) c.85092A>T (p.Leu28364=) c.82434A>T (p.Leu27478=) c.82353A>T (p.Leu27451=) c.64116A>T (p.Leu21372=) c.53970A>T (p.Leu17990=) | |
2 | g.178551679T>C | CA430104066 | TTN,TTN-AS1 | c.83517A>G (p.Leu27839=) c.64602A>G (p.Leu21534=) c.64401A>G (p.Leu21467=) c.64026A>G (p.Leu21342=) c.91221A>G (p.Leu30407=) c.86298A>G (p.Leu28766=) n.447-19621T>C n.2043+9318T>C c.90318A>G (p.Leu30106=) c.64212A>G (p.Leu21404=) c.64071A>G (p.Leu21357=) c.90114A>G (p.Leu30038=) c.85512A>G (p.Leu28504=) c.85509A>G (p.Leu28503=) c.82551A>G (p.Leu27517=) c.64167A>G (p.Leu21389=) c.85662A>G (p.Leu28554=) c.85659A>G (p.Leu28553=) c.85092A>G (p.Leu28364=) c.82434A>G (p.Leu27478=) c.82353A>G (p.Leu27451=) c.64116A>G (p.Leu21372=) c.53970A>G (p.Leu17990=) | |
2 | g.178551679T>G | CA430104067 | TTN,TTN-AS1 | c.83517A>C (p.Leu27839=) c.64602A>C (p.Leu21534=) c.64401A>C (p.Leu21467=) c.64026A>C (p.Leu21342=) c.91221A>C (p.Leu30407=) c.86298A>C (p.Leu28766=) n.447-19621T>G n.2043+9318T>G c.90318A>C (p.Leu30106=) c.64212A>C (p.Leu21404=) c.64071A>C (p.Leu21357=) c.90114A>C (p.Leu30038=) c.85512A>C (p.Leu28504=) c.85509A>C (p.Leu28503=) c.82551A>C (p.Leu27517=) c.64167A>C (p.Leu21389=) c.85662A>C (p.Leu28554=) c.85659A>C (p.Leu28553=) c.85092A>C (p.Leu28364=) c.82434A>C (p.Leu27478=) c.82353A>C (p.Leu27451=) c.64116A>C (p.Leu21372=) c.53970A>C (p.Leu17990=) |