Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178593129_178593133delinsAAGTT | CA1310540369 | TTN,TTN-AS1 | c.51331+40_51331+44delinsAACTT (n.51331+40_51331+44delinsAACTT) c.32416+40_32416+44delinsAACTT (n.32416+40_32416+44delinsAACTT) c.32215+40_32215+44delinsAACTT (n.32215+40_32215+44delinsAACTT) c.31840+40_31840+44delinsAACTT (n.31840+40_31840+44delinsAACTT) c.59035+40_59035+44delinsAACTT (n.59035+40_59035+44delinsAACTT) c.54112+40_54112+44delinsAACTT (n.54112+40_54112+44delinsAACTT) n.597-4467_597-4463delinsAAGTT n.3364+1815_3364+1819delinsAAGTT c.58132+40_58132+44delinsAACTT (n.58132+40_58132+44delinsAACTT) c.32026+40_32026+44delinsAACTT (n.32026+40_32026+44delinsAACTT) c.31885+40_31885+44delinsAACTT (n.31885+40_31885+44delinsAACTT) c.57928+40_57928+44delinsAACTT (n.57928+40_57928+44delinsAACTT) c.53326+40_53326+44delinsAACTT (n.53326+40_53326+44delinsAACTT) c.53323+40_53323+44delinsAACTT (n.53323+40_53323+44delinsAACTT) c.50365+40_50365+44delinsAACTT (n.50365+40_50365+44delinsAACTT) c.31981+40_31981+44delinsAACTT (n.31981+40_31981+44delinsAACTT) c.53476+40_53476+44delinsAACTT (n.53476+40_53476+44delinsAACTT) c.53473+40_53473+44delinsAACTT (n.53473+40_53473+44delinsAACTT) c.52906+40_52906+44delinsAACTT (n.52906+40_52906+44delinsAACTT) c.50248+40_50248+44delinsAACTT (n.50248+40_50248+44delinsAACTT) c.50167+40_50167+44delinsAACTT (n.50167+40_50167+44delinsAACTT) c.31930+40_31930+44delinsAACTT (n.31930+40_31930+44delinsAACTT) c.21784+40_21784+44delinsAACTT (n.21784+40_21784+44delinsAACTT) | |
2 | g.178593132_178593135del | CA1992733 | TTN,TTN-AS1 | c.51331+40_51331+43del (n.51331+40_51331+43del) c.32416+40_32416+43del (n.32416+40_32416+43del) c.32215+40_32215+43del (n.32215+40_32215+43del) c.31840+40_31840+43del (n.31840+40_31840+43del) c.59035+40_59035+43del (n.59035+40_59035+43del) c.54112+40_54112+43del (n.54112+40_54112+43del) n.597-4464_597-4461del n.3364+1818_3364+1821del c.58132+40_58132+43del (n.58132+40_58132+43del) c.32026+40_32026+43del (n.32026+40_32026+43del) c.31885+40_31885+43del (n.31885+40_31885+43del) c.57928+40_57928+43del (n.57928+40_57928+43del) c.53326+40_53326+43del (n.53326+40_53326+43del) c.53323+40_53323+43del (n.53323+40_53323+43del) c.50365+40_50365+43del (n.50365+40_50365+43del) c.31981+40_31981+43del (n.31981+40_31981+43del) c.53476+40_53476+43del (n.53476+40_53476+43del) c.53473+40_53473+43del (n.53473+40_53473+43del) c.52906+40_52906+43del (n.52906+40_52906+43del) c.50248+40_50248+43del (n.50248+40_50248+43del) c.50167+40_50167+43del (n.50167+40_50167+43del) c.31930+40_31930+43del (n.31930+40_31930+43del) c.21784+40_21784+43del (n.21784+40_21784+43del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178593133T>C | CA538435613 | TTN,TTN-AS1 | c.51331+40A>G (n.51331+40A>G) c.32416+40A>G (n.32416+40A>G) c.32215+40A>G (n.32215+40A>G) c.31840+40A>G (n.31840+40A>G) c.59035+40A>G (n.59035+40A>G) c.54112+40A>G (n.54112+40A>G) n.597-4463T>C n.3364+1819T>C c.58132+40A>G (n.58132+40A>G) c.32026+40A>G (n.32026+40A>G) c.31885+40A>G (n.31885+40A>G) c.57928+40A>G (n.57928+40A>G) c.53326+40A>G (n.53326+40A>G) c.53323+40A>G (n.53323+40A>G) c.50365+40A>G (n.50365+40A>G) c.31981+40A>G (n.31981+40A>G) c.53476+40A>G (n.53476+40A>G) c.53473+40A>G (n.53473+40A>G) c.52906+40A>G (n.52906+40A>G) c.50248+40A>G (n.50248+40A>G) c.50167+40A>G (n.50167+40A>G) c.31930+40A>G (n.31930+40A>G) c.21784+40A>G (n.21784+40A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178593133T= | CA1310540373 | TTN,TTN-AS1 | c.51331+40A= (n.51331+40A=) c.32416+40A= (n.32416+40A=) c.32215+40A= (n.32215+40A=) c.31840+40A= (n.31840+40A=) c.59035+40A= (n.59035+40A=) c.54112+40A= (n.54112+40A=) n.597-4463T= n.3364+1819T= c.58132+40A= (n.58132+40A=) c.32026+40A= (n.32026+40A=) c.31885+40A= (n.31885+40A=) c.57928+40A= (n.57928+40A=) c.53326+40A= (n.53326+40A=) c.53323+40A= (n.53323+40A=) c.50365+40A= (n.50365+40A=) c.31981+40A= (n.31981+40A=) c.53476+40A= (n.53476+40A=) c.53473+40A= (n.53473+40A=) c.52906+40A= (n.52906+40A=) c.50248+40A= (n.50248+40A=) c.50167+40A= (n.50167+40A=) c.31930+40A= (n.31930+40A=) c.21784+40A= (n.21784+40A=) | |
2 | g.178593135G>C | CA60971144 | TTN,TTN-AS1 | c.51331+38C>G (n.51331+38C>G) c.32416+38C>G (n.32416+38C>G) c.32215+38C>G (n.32215+38C>G) c.31840+38C>G (n.31840+38C>G) c.59035+38C>G (n.59035+38C>G) c.54112+38C>G (n.54112+38C>G) n.597-4461G>C n.3364+1821G>C c.58132+38C>G (n.58132+38C>G) c.32026+38C>G (n.32026+38C>G) c.31885+38C>G (n.31885+38C>G) c.57928+38C>G (n.57928+38C>G) c.53326+38C>G (n.53326+38C>G) c.53323+38C>G (n.53323+38C>G) c.50365+38C>G (n.50365+38C>G) c.31981+38C>G (n.31981+38C>G) c.53476+38C>G (n.53476+38C>G) c.53473+38C>G (n.53473+38C>G) c.52906+38C>G (n.52906+38C>G) c.50248+38C>G (n.50248+38C>G) c.50167+38C>G (n.50167+38C>G) c.31930+38C>G (n.31930+38C>G) c.21784+38C>G (n.21784+38C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178593135G= | CA1310540375 | TTN,TTN-AS1 | c.51331+38C= (n.51331+38C=) c.32416+38C= (n.32416+38C=) c.32215+38C= (n.32215+38C=) c.31840+38C= (n.31840+38C=) c.59035+38C= (n.59035+38C=) c.54112+38C= (n.54112+38C=) n.597-4461G= n.3364+1821G= c.58132+38C= (n.58132+38C=) c.32026+38C= (n.32026+38C=) c.31885+38C= (n.31885+38C=) c.57928+38C= (n.57928+38C=) c.53326+38C= (n.53326+38C=) c.53323+38C= (n.53323+38C=) c.50365+38C= (n.50365+38C=) c.31981+38C= (n.31981+38C=) c.53476+38C= (n.53476+38C=) c.53473+38C= (n.53473+38C=) c.52906+38C= (n.52906+38C=) c.50248+38C= (n.50248+38C=) c.50167+38C= (n.50167+38C=) c.31930+38C= (n.31930+38C=) c.21784+38C= (n.21784+38C=) | |
2 | g.178593136del | CA2662130864 | TTN,TTN-AS1 | c.51331+37del (n.51331+37del) c.32416+37del (n.32416+37del) c.32215+37del (n.32215+37del) c.31840+37del (n.31840+37del) c.59035+37del (n.59035+37del) c.54112+37del (n.54112+37del) n.597-4460del n.3364+1822del c.58132+37del (n.58132+37del) c.32026+37del (n.32026+37del) c.31885+37del (n.31885+37del) c.57928+37del (n.57928+37del) c.53326+37del (n.53326+37del) c.53323+37del (n.53323+37del) c.50365+37del (n.50365+37del) c.31981+37del (n.31981+37del) c.53476+37del (n.53476+37del) c.53473+37del (n.53473+37del) c.52906+37del (n.52906+37del) c.50248+37del (n.50248+37del) c.50167+37del (n.50167+37del) c.31930+37del (n.31930+37del) c.21784+37del (n.21784+37del) | gnomAD v4 |
2 | g.178593138A>G | CA2662130865 | TTN,TTN-AS1 | c.51331+35T>C (n.51331+35T>C) c.32416+35T>C (n.32416+35T>C) c.32215+35T>C (n.32215+35T>C) c.31840+35T>C (n.31840+35T>C) c.59035+35T>C (n.59035+35T>C) c.54112+35T>C (n.54112+35T>C) n.597-4458A>G n.3364+1824A>G c.58132+35T>C (n.58132+35T>C) c.32026+35T>C (n.32026+35T>C) c.31885+35T>C (n.31885+35T>C) c.57928+35T>C (n.57928+35T>C) c.53326+35T>C (n.53326+35T>C) c.53323+35T>C (n.53323+35T>C) c.50365+35T>C (n.50365+35T>C) c.31981+35T>C (n.31981+35T>C) c.53476+35T>C (n.53476+35T>C) c.53473+35T>C (n.53473+35T>C) c.52906+35T>C (n.52906+35T>C) c.50248+35T>C (n.50248+35T>C) c.50167+35T>C (n.50167+35T>C) c.31930+35T>C (n.31930+35T>C) c.21784+35T>C (n.21784+35T>C) | gnomAD v4 |
2 | g.178593140C= | CA1310540376 | TTN,TTN-AS1 | c.51331+33G= (n.51331+33G=) c.32416+33G= (n.32416+33G=) c.32215+33G= (n.32215+33G=) c.31840+33G= (n.31840+33G=) c.59035+33G= (n.59035+33G=) c.54112+33G= (n.54112+33G=) n.597-4456C= n.3364+1826C= c.58132+33G= (n.58132+33G=) c.32026+33G= (n.32026+33G=) c.31885+33G= (n.31885+33G=) c.57928+33G= (n.57928+33G=) c.53326+33G= (n.53326+33G=) c.53323+33G= (n.53323+33G=) c.50365+33G= (n.50365+33G=) c.31981+33G= (n.31981+33G=) c.53476+33G= (n.53476+33G=) c.53473+33G= (n.53473+33G=) c.52906+33G= (n.52906+33G=) c.50248+33G= (n.50248+33G=) c.50167+33G= (n.50167+33G=) c.31930+33G= (n.31930+33G=) c.21784+33G= (n.21784+33G=) | |
2 | g.178593140C>G | CA1992734 | TTN,TTN-AS1 | c.51331+33G>C (n.51331+33G>C) c.32416+33G>C (n.32416+33G>C) c.32215+33G>C (n.32215+33G>C) c.31840+33G>C (n.31840+33G>C) c.59035+33G>C (n.59035+33G>C) c.54112+33G>C (n.54112+33G>C) n.597-4456C>G n.3364+1826C>G c.58132+33G>C (n.58132+33G>C) c.32026+33G>C (n.32026+33G>C) c.31885+33G>C (n.31885+33G>C) c.57928+33G>C (n.57928+33G>C) c.53326+33G>C (n.53326+33G>C) c.53323+33G>C (n.53323+33G>C) c.50365+33G>C (n.50365+33G>C) c.31981+33G>C (n.31981+33G>C) c.53476+33G>C (n.53476+33G>C) c.53473+33G>C (n.53473+33G>C) c.52906+33G>C (n.52906+33G>C) c.50248+33G>C (n.50248+33G>C) c.50167+33G>C (n.50167+33G>C) c.31930+33G>C (n.31930+33G>C) c.21784+33G>C (n.21784+33G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178593141A= | CA1310540378 | TTN,TTN-AS1 | c.51331+32T= (n.51331+32T=) c.32416+32T= (n.32416+32T=) c.32215+32T= (n.32215+32T=) c.31840+32T= (n.31840+32T=) c.59035+32T= (n.59035+32T=) c.54112+32T= (n.54112+32T=) n.597-4455A= n.3364+1827A= c.58132+32T= (n.58132+32T=) c.32026+32T= (n.32026+32T=) c.31885+32T= (n.31885+32T=) c.57928+32T= (n.57928+32T=) c.53326+32T= (n.53326+32T=) c.53323+32T= (n.53323+32T=) c.50365+32T= (n.50365+32T=) c.31981+32T= (n.31981+32T=) c.53476+32T= (n.53476+32T=) c.53473+32T= (n.53473+32T=) c.52906+32T= (n.52906+32T=) c.50248+32T= (n.50248+32T=) c.50167+32T= (n.50167+32T=) c.31930+32T= (n.31930+32T=) c.21784+32T= (n.21784+32T=) | |
2 | g.178593141A>G | CA1992735 | TTN,TTN-AS1 | c.51331+32T>C (n.51331+32T>C) c.32416+32T>C (n.32416+32T>C) c.32215+32T>C (n.32215+32T>C) c.31840+32T>C (n.31840+32T>C) c.59035+32T>C (n.59035+32T>C) c.54112+32T>C (n.54112+32T>C) n.597-4455A>G n.3364+1827A>G c.58132+32T>C (n.58132+32T>C) c.32026+32T>C (n.32026+32T>C) c.31885+32T>C (n.31885+32T>C) c.57928+32T>C (n.57928+32T>C) c.53326+32T>C (n.53326+32T>C) c.53323+32T>C (n.53323+32T>C) c.50365+32T>C (n.50365+32T>C) c.31981+32T>C (n.31981+32T>C) c.53476+32T>C (n.53476+32T>C) c.53473+32T>C (n.53473+32T>C) c.52906+32T>C (n.52906+32T>C) c.50248+32T>C (n.50248+32T>C) c.50167+32T>C (n.50167+32T>C) c.31930+32T>C (n.31930+32T>C) c.21784+32T>C (n.21784+32T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178593146A>G | CA2662130866 | TTN,TTN-AS1 | c.51331+27T>C (n.51331+27T>C) c.32416+27T>C (n.32416+27T>C) c.32215+27T>C (n.32215+27T>C) c.31840+27T>C (n.31840+27T>C) c.59035+27T>C (n.59035+27T>C) c.54112+27T>C (n.54112+27T>C) n.597-4450A>G n.3364+1832A>G c.58132+27T>C (n.58132+27T>C) c.32026+27T>C (n.32026+27T>C) c.31885+27T>C (n.31885+27T>C) c.57928+27T>C (n.57928+27T>C) c.53326+27T>C (n.53326+27T>C) c.53323+27T>C (n.53323+27T>C) c.50365+27T>C (n.50365+27T>C) c.31981+27T>C (n.31981+27T>C) c.53476+27T>C (n.53476+27T>C) c.53473+27T>C (n.53473+27T>C) c.52906+27T>C (n.52906+27T>C) c.50248+27T>C (n.50248+27T>C) c.50167+27T>C (n.50167+27T>C) c.31930+27T>C (n.31930+27T>C) c.21784+27T>C (n.21784+27T>C) | gnomAD v4 |
2 | g.178593148C= | CA1310540380 | TTN,TTN-AS1 | c.51331+25G= (n.51331+25G=) c.32416+25G= (n.32416+25G=) c.32215+25G= (n.32215+25G=) c.31840+25G= (n.31840+25G=) c.59035+25G= (n.59035+25G=) c.54112+25G= (n.54112+25G=) n.597-4448C= n.3364+1834C= c.58132+25G= (n.58132+25G=) c.32026+25G= (n.32026+25G=) c.31885+25G= (n.31885+25G=) c.57928+25G= (n.57928+25G=) c.53326+25G= (n.53326+25G=) c.53323+25G= (n.53323+25G=) c.50365+25G= (n.50365+25G=) c.31981+25G= (n.31981+25G=) c.53476+25G= (n.53476+25G=) c.53473+25G= (n.53473+25G=) c.52906+25G= (n.52906+25G=) c.50248+25G= (n.50248+25G=) c.50167+25G= (n.50167+25G=) c.31930+25G= (n.31930+25G=) c.21784+25G= (n.21784+25G=) | |
2 | g.178593148C>T | CA538435614 | TTN,TTN-AS1 | c.51331+25G>A (n.51331+25G>A) c.32416+25G>A (n.32416+25G>A) c.32215+25G>A (n.32215+25G>A) c.31840+25G>A (n.31840+25G>A) c.59035+25G>A (n.59035+25G>A) c.54112+25G>A (n.54112+25G>A) n.597-4448C>T n.3364+1834C>T c.58132+25G>A (n.58132+25G>A) c.32026+25G>A (n.32026+25G>A) c.31885+25G>A (n.31885+25G>A) c.57928+25G>A (n.57928+25G>A) c.53326+25G>A (n.53326+25G>A) c.53323+25G>A (n.53323+25G>A) c.50365+25G>A (n.50365+25G>A) c.31981+25G>A (n.31981+25G>A) c.53476+25G>A (n.53476+25G>A) c.53473+25G>A (n.53473+25G>A) c.52906+25G>A (n.52906+25G>A) c.50248+25G>A (n.50248+25G>A) c.50167+25G>A (n.50167+25G>A) c.31930+25G>A (n.31930+25G>A) c.21784+25G>A (n.21784+25G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178593149T>A | CA1992736 | TTN,TTN-AS1 | c.51331+24A>T (n.51331+24A>T) c.32416+24A>T (n.32416+24A>T) c.32215+24A>T (n.32215+24A>T) c.31840+24A>T (n.31840+24A>T) c.59035+24A>T (n.59035+24A>T) c.54112+24A>T (n.54112+24A>T) n.597-4447T>A n.3364+1835T>A c.58132+24A>T (n.58132+24A>T) c.32026+24A>T (n.32026+24A>T) c.31885+24A>T (n.31885+24A>T) c.57928+24A>T (n.57928+24A>T) c.53326+24A>T (n.53326+24A>T) c.53323+24A>T (n.53323+24A>T) c.50365+24A>T (n.50365+24A>T) c.31981+24A>T (n.31981+24A>T) c.53476+24A>T (n.53476+24A>T) c.53473+24A>T (n.53473+24A>T) c.52906+24A>T (n.52906+24A>T) c.50248+24A>T (n.50248+24A>T) c.50167+24A>T (n.50167+24A>T) c.31930+24A>T (n.31930+24A>T) c.21784+24A>T (n.21784+24A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178593149T= | CA1310540382 | TTN,TTN-AS1 | c.51331+24A= (n.51331+24A=) c.32416+24A= (n.32416+24A=) c.32215+24A= (n.32215+24A=) c.31840+24A= (n.31840+24A=) c.59035+24A= (n.59035+24A=) c.54112+24A= (n.54112+24A=) n.597-4447T= n.3364+1835T= c.58132+24A= (n.58132+24A=) c.32026+24A= (n.32026+24A=) c.31885+24A= (n.31885+24A=) c.57928+24A= (n.57928+24A=) c.53326+24A= (n.53326+24A=) c.53323+24A= (n.53323+24A=) c.50365+24A= (n.50365+24A=) c.31981+24A= (n.31981+24A=) c.53476+24A= (n.53476+24A=) c.53473+24A= (n.53473+24A=) c.52906+24A= (n.52906+24A=) c.50248+24A= (n.50248+24A=) c.50167+24A= (n.50167+24A=) c.31930+24A= (n.31930+24A=) c.21784+24A= (n.21784+24A=) | |
2 | g.178593149_178593150del | CA2662130867 | TTN,TTN-AS1 | c.51331+23_51331+24del (n.51331+23_51331+24del) c.32416+23_32416+24del (n.32416+23_32416+24del) c.32215+23_32215+24del (n.32215+23_32215+24del) c.31840+23_31840+24del (n.31840+23_31840+24del) c.59035+23_59035+24del (n.59035+23_59035+24del) c.54112+23_54112+24del (n.54112+23_54112+24del) n.597-4447_597-4446del n.3364+1835_3364+1836del c.58132+23_58132+24del (n.58132+23_58132+24del) c.32026+23_32026+24del (n.32026+23_32026+24del) c.31885+23_31885+24del (n.31885+23_31885+24del) c.57928+23_57928+24del (n.57928+23_57928+24del) c.53326+23_53326+24del (n.53326+23_53326+24del) c.53323+23_53323+24del (n.53323+23_53323+24del) c.50365+23_50365+24del (n.50365+23_50365+24del) c.31981+23_31981+24del (n.31981+23_31981+24del) c.53476+23_53476+24del (n.53476+23_53476+24del) c.53473+23_53473+24del (n.53473+23_53473+24del) c.52906+23_52906+24del (n.52906+23_52906+24del) c.50248+23_50248+24del (n.50248+23_50248+24del) c.50167+23_50167+24del (n.50167+23_50167+24del) c.31930+23_31930+24del (n.31930+23_31930+24del) c.21784+23_21784+24del (n.21784+23_21784+24del) | gnomAD v4 |
2 | g.178593150G>A | CA1992737 | TTN,TTN-AS1 | c.51331+23C>T (n.51331+23C>T) c.32416+23C>T (n.32416+23C>T) c.32215+23C>T (n.32215+23C>T) c.31840+23C>T (n.31840+23C>T) c.59035+23C>T (n.59035+23C>T) c.54112+23C>T (n.54112+23C>T) n.597-4446G>A n.3364+1836G>A c.58132+23C>T (n.58132+23C>T) c.32026+23C>T (n.32026+23C>T) c.31885+23C>T (n.31885+23C>T) c.57928+23C>T (n.57928+23C>T) c.53326+23C>T (n.53326+23C>T) c.53323+23C>T (n.53323+23C>T) c.50365+23C>T (n.50365+23C>T) c.31981+23C>T (n.31981+23C>T) c.53476+23C>T (n.53476+23C>T) c.53473+23C>T (n.53473+23C>T) c.52906+23C>T (n.52906+23C>T) c.50248+23C>T (n.50248+23C>T) c.50167+23C>T (n.50167+23C>T) c.31930+23C>T (n.31930+23C>T) c.21784+23C>T (n.21784+23C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178593150G= | CA1310540383 | TTN,TTN-AS1 | c.51331+23C= (n.51331+23C=) c.32416+23C= (n.32416+23C=) c.32215+23C= (n.32215+23C=) c.31840+23C= (n.31840+23C=) c.59035+23C= (n.59035+23C=) c.54112+23C= (n.54112+23C=) n.597-4446G= n.3364+1836G= c.58132+23C= (n.58132+23C=) c.32026+23C= (n.32026+23C=) c.31885+23C= (n.31885+23C=) c.57928+23C= (n.57928+23C=) c.53326+23C= (n.53326+23C=) c.53323+23C= (n.53323+23C=) c.50365+23C= (n.50365+23C=) c.31981+23C= (n.31981+23C=) c.53476+23C= (n.53476+23C=) c.53473+23C= (n.53473+23C=) c.52906+23C= (n.52906+23C=) c.50248+23C= (n.50248+23C=) c.50167+23C= (n.50167+23C=) c.31930+23C= (n.31930+23C=) c.21784+23C= (n.21784+23C=) | |
2 | g.178593152A= | CA1310540385 | TTN,TTN-AS1 | c.51331+21T= (n.51331+21T=) c.32416+21T= (n.32416+21T=) c.32215+21T= (n.32215+21T=) c.31840+21T= (n.31840+21T=) c.59035+21T= (n.59035+21T=) c.54112+21T= (n.54112+21T=) n.597-4444A= n.3364+1838A= c.58132+21T= (n.58132+21T=) c.32026+21T= (n.32026+21T=) c.31885+21T= (n.31885+21T=) c.57928+21T= (n.57928+21T=) c.53326+21T= (n.53326+21T=) c.53323+21T= (n.53323+21T=) c.50365+21T= (n.50365+21T=) c.31981+21T= (n.31981+21T=) c.53476+21T= (n.53476+21T=) c.53473+21T= (n.53473+21T=) c.52906+21T= (n.52906+21T=) c.50248+21T= (n.50248+21T=) c.50167+21T= (n.50167+21T=) c.31930+21T= (n.31930+21T=) c.21784+21T= (n.21784+21T=) | |
2 | g.178593152A>G | CA538435615 | TTN,TTN-AS1 | c.51331+21T>C (n.51331+21T>C) c.32416+21T>C (n.32416+21T>C) c.32215+21T>C (n.32215+21T>C) c.31840+21T>C (n.31840+21T>C) c.59035+21T>C (n.59035+21T>C) c.54112+21T>C (n.54112+21T>C) n.597-4444A>G n.3364+1838A>G c.58132+21T>C (n.58132+21T>C) c.32026+21T>C (n.32026+21T>C) c.31885+21T>C (n.31885+21T>C) c.57928+21T>C (n.57928+21T>C) c.53326+21T>C (n.53326+21T>C) c.53323+21T>C (n.53323+21T>C) c.50365+21T>C (n.50365+21T>C) c.31981+21T>C (n.31981+21T>C) c.53476+21T>C (n.53476+21T>C) c.53473+21T>C (n.53473+21T>C) c.52906+21T>C (n.52906+21T>C) c.50248+21T>C (n.50248+21T>C) c.50167+21T>C (n.50167+21T>C) c.31930+21T>C (n.31930+21T>C) c.21784+21T>C (n.21784+21T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178593158C>T | CA2577170689 | TTN,TTN-AS1 | c.51331+15G>A (n.51331+15G>A) c.32416+15G>A (n.32416+15G>A) c.32215+15G>A (n.32215+15G>A) c.31840+15G>A (n.31840+15G>A) c.59035+15G>A (n.59035+15G>A) c.54112+15G>A (n.54112+15G>A) n.597-4438C>T n.3364+1844C>T c.58132+15G>A (n.58132+15G>A) c.32026+15G>A (n.32026+15G>A) c.31885+15G>A (n.31885+15G>A) c.57928+15G>A (n.57928+15G>A) c.53326+15G>A (n.53326+15G>A) c.53323+15G>A (n.53323+15G>A) c.50365+15G>A (n.50365+15G>A) c.31981+15G>A (n.31981+15G>A) c.53476+15G>A (n.53476+15G>A) c.53473+15G>A (n.53473+15G>A) c.52906+15G>A (n.52906+15G>A) c.50248+15G>A (n.50248+15G>A) c.50167+15G>A (n.50167+15G>A) c.31930+15G>A (n.31930+15G>A) c.21784+15G>A (n.21784+15G>A) | |
2 | g.178593159C>A | CA2662130868 | TTN,TTN-AS1 | c.51331+14G>T (n.51331+14G>T) c.32416+14G>T (n.32416+14G>T) c.32215+14G>T (n.32215+14G>T) c.31840+14G>T (n.31840+14G>T) c.59035+14G>T (n.59035+14G>T) c.54112+14G>T (n.54112+14G>T) n.597-4437C>A n.3364+1845C>A c.58132+14G>T (n.58132+14G>T) c.32026+14G>T (n.32026+14G>T) c.31885+14G>T (n.31885+14G>T) c.57928+14G>T (n.57928+14G>T) c.53326+14G>T (n.53326+14G>T) c.53323+14G>T (n.53323+14G>T) c.50365+14G>T (n.50365+14G>T) c.31981+14G>T (n.31981+14G>T) c.53476+14G>T (n.53476+14G>T) c.53473+14G>T (n.53473+14G>T) c.52906+14G>T (n.52906+14G>T) c.50248+14G>T (n.50248+14G>T) c.50167+14G>T (n.50167+14G>T) c.31930+14G>T (n.31930+14G>T) c.21784+14G>T (n.21784+14G>T) | gnomAD v4 |
2 | g.178593159C>T | CA2580064893 | TTN,TTN-AS1 | c.51331+14G>A (n.51331+14G>A) c.32416+14G>A (n.32416+14G>A) c.32215+14G>A (n.32215+14G>A) c.31840+14G>A (n.31840+14G>A) c.59035+14G>A (n.59035+14G>A) c.54112+14G>A (n.54112+14G>A) n.597-4437C>T n.3364+1845C>T c.58132+14G>A (n.58132+14G>A) c.32026+14G>A (n.32026+14G>A) c.31885+14G>A (n.31885+14G>A) c.57928+14G>A (n.57928+14G>A) c.53326+14G>A (n.53326+14G>A) c.53323+14G>A (n.53323+14G>A) c.50365+14G>A (n.50365+14G>A) c.31981+14G>A (n.31981+14G>A) c.53476+14G>A (n.53476+14G>A) c.53473+14G>A (n.53473+14G>A) c.52906+14G>A (n.52906+14G>A) c.50248+14G>A (n.50248+14G>A) c.50167+14G>A (n.50167+14G>A) c.31930+14G>A (n.31930+14G>A) c.21784+14G>A (n.21784+14G>A) | ClinVar gnomAD v4 |
2 | g.178593160A= | CA1310540386 | TTN,TTN-AS1 | c.51331+13T= (n.51331+13T=) c.32416+13T= (n.32416+13T=) c.32215+13T= (n.32215+13T=) c.31840+13T= (n.31840+13T=) c.59035+13T= (n.59035+13T=) c.54112+13T= (n.54112+13T=) n.597-4436A= n.3364+1846A= c.58132+13T= (n.58132+13T=) c.32026+13T= (n.32026+13T=) c.31885+13T= (n.31885+13T=) c.57928+13T= (n.57928+13T=) c.53326+13T= (n.53326+13T=) c.53323+13T= (n.53323+13T=) c.50365+13T= (n.50365+13T=) c.31981+13T= (n.31981+13T=) c.53476+13T= (n.53476+13T=) c.53473+13T= (n.53473+13T=) c.52906+13T= (n.52906+13T=) c.50248+13T= (n.50248+13T=) c.50167+13T= (n.50167+13T=) c.31930+13T= (n.31930+13T=) c.21784+13T= (n.21784+13T=) | |
2 | g.178593160A>G | CA538435605 | TTN,TTN-AS1 | c.51331+13T>C (n.51331+13T>C) c.32416+13T>C (n.32416+13T>C) c.32215+13T>C (n.32215+13T>C) c.31840+13T>C (n.31840+13T>C) c.59035+13T>C (n.59035+13T>C) c.54112+13T>C (n.54112+13T>C) n.597-4436A>G n.3364+1846A>G c.58132+13T>C (n.58132+13T>C) c.32026+13T>C (n.32026+13T>C) c.31885+13T>C (n.31885+13T>C) c.57928+13T>C (n.57928+13T>C) c.53326+13T>C (n.53326+13T>C) c.53323+13T>C (n.53323+13T>C) c.50365+13T>C (n.50365+13T>C) c.31981+13T>C (n.31981+13T>C) c.53476+13T>C (n.53476+13T>C) c.53473+13T>C (n.53473+13T>C) c.52906+13T>C (n.52906+13T>C) c.50248+13T>C (n.50248+13T>C) c.50167+13T>C (n.50167+13T>C) c.31930+13T>C (n.31930+13T>C) c.21784+13T>C (n.21784+13T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178593161T>C | CA2662130869 | TTN,TTN-AS1 | c.51331+12A>G (n.51331+12A>G) c.32416+12A>G (n.32416+12A>G) c.32215+12A>G (n.32215+12A>G) c.31840+12A>G (n.31840+12A>G) c.59035+12A>G (n.59035+12A>G) c.54112+12A>G (n.54112+12A>G) n.597-4435T>C n.3364+1847T>C c.58132+12A>G (n.58132+12A>G) c.32026+12A>G (n.32026+12A>G) c.31885+12A>G (n.31885+12A>G) c.57928+12A>G (n.57928+12A>G) c.53326+12A>G (n.53326+12A>G) c.53323+12A>G (n.53323+12A>G) c.50365+12A>G (n.50365+12A>G) c.31981+12A>G (n.31981+12A>G) c.53476+12A>G (n.53476+12A>G) c.53473+12A>G (n.53473+12A>G) c.52906+12A>G (n.52906+12A>G) c.50248+12A>G (n.50248+12A>G) c.50167+12A>G (n.50167+12A>G) c.31930+12A>G (n.31930+12A>G) c.21784+12A>G (n.21784+12A>G) | gnomAD v4 |
2 | g.178593164A>G | CA2662130870 | TTN,TTN-AS1 | c.51331+9T>C (n.51331+9T>C) c.32416+9T>C (n.32416+9T>C) c.32215+9T>C (n.32215+9T>C) c.31840+9T>C (n.31840+9T>C) c.59035+9T>C (n.59035+9T>C) c.54112+9T>C (n.54112+9T>C) n.597-4432A>G n.3364+1850A>G c.58132+9T>C (n.58132+9T>C) c.32026+9T>C (n.32026+9T>C) c.31885+9T>C (n.31885+9T>C) c.57928+9T>C (n.57928+9T>C) c.53326+9T>C (n.53326+9T>C) c.53323+9T>C (n.53323+9T>C) c.50365+9T>C (n.50365+9T>C) c.31981+9T>C (n.31981+9T>C) c.53476+9T>C (n.53476+9T>C) c.53473+9T>C (n.53473+9T>C) c.52906+9T>C (n.52906+9T>C) c.50248+9T>C (n.50248+9T>C) c.50167+9T>C (n.50167+9T>C) c.31930+9T>C (n.31930+9T>C) c.21784+9T>C (n.21784+9T>C) | gnomAD v4 |
2 | g.178593164_178593167delinsATAC | CA1310540387 | TTN,TTN-AS1 | c.51331+6_51331+9delinsGTAT (n.51331+6_51331+9delinsGTAT) c.32416+6_32416+9delinsGTAT (n.32416+6_32416+9delinsGTAT) c.32215+6_32215+9delinsGTAT (n.32215+6_32215+9delinsGTAT) c.31840+6_31840+9delinsGTAT (n.31840+6_31840+9delinsGTAT) c.59035+6_59035+9delinsGTAT (n.59035+6_59035+9delinsGTAT) c.54112+6_54112+9delinsGTAT (n.54112+6_54112+9delinsGTAT) n.597-4432_597-4429delinsATAC n.3364+1850_3364+1853delinsATAC c.58132+6_58132+9delinsGTAT (n.58132+6_58132+9delinsGTAT) c.32026+6_32026+9delinsGTAT (n.32026+6_32026+9delinsGTAT) c.31885+6_31885+9delinsGTAT (n.31885+6_31885+9delinsGTAT) c.57928+6_57928+9delinsGTAT (n.57928+6_57928+9delinsGTAT) c.53326+6_53326+9delinsGTAT (n.53326+6_53326+9delinsGTAT) c.53323+6_53323+9delinsGTAT (n.53323+6_53323+9delinsGTAT) c.50365+6_50365+9delinsGTAT (n.50365+6_50365+9delinsGTAT) c.31981+6_31981+9delinsGTAT (n.31981+6_31981+9delinsGTAT) c.53476+6_53476+9delinsGTAT (n.53476+6_53476+9delinsGTAT) c.53473+6_53473+9delinsGTAT (n.53473+6_53473+9delinsGTAT) c.52906+6_52906+9delinsGTAT (n.52906+6_52906+9delinsGTAT) c.50248+6_50248+9delinsGTAT (n.50248+6_50248+9delinsGTAT) c.50167+6_50167+9delinsGTAT (n.50167+6_50167+9delinsGTAT) c.31930+6_31930+9delinsGTAT (n.31930+6_31930+9delinsGTAT) c.21784+6_21784+9delinsGTAT (n.21784+6_21784+9delinsGTAT) | |
2 | g.178593165T>A | CA1310540390 | TTN,TTN-AS1 | c.51331+8A>T (n.51331+8A>T) c.32416+8A>T (n.32416+8A>T) c.32215+8A>T (n.32215+8A>T) c.31840+8A>T (n.31840+8A>T) c.59035+8A>T (n.59035+8A>T) c.54112+8A>T (n.54112+8A>T) n.597-4431T>A n.3364+1851T>A c.58132+8A>T (n.58132+8A>T) c.32026+8A>T (n.32026+8A>T) c.31885+8A>T (n.31885+8A>T) c.57928+8A>T (n.57928+8A>T) c.53326+8A>T (n.53326+8A>T) c.53323+8A>T (n.53323+8A>T) c.50365+8A>T (n.50365+8A>T) c.31981+8A>T (n.31981+8A>T) c.53476+8A>T (n.53476+8A>T) c.53473+8A>T (n.53473+8A>T) c.52906+8A>T (n.52906+8A>T) c.50248+8A>T (n.50248+8A>T) c.50167+8A>T (n.50167+8A>T) c.31930+8A>T (n.31930+8A>T) c.21784+8A>T (n.21784+8A>T) | ClinVar dbSNP |
2 | g.178593165T>C | CA1310540391 | TTN,TTN-AS1 | c.51331+8A>G (n.51331+8A>G) c.32416+8A>G (n.32416+8A>G) c.32215+8A>G (n.32215+8A>G) c.31840+8A>G (n.31840+8A>G) c.59035+8A>G (n.59035+8A>G) c.54112+8A>G (n.54112+8A>G) n.597-4431T>C n.3364+1851T>C c.58132+8A>G (n.58132+8A>G) c.32026+8A>G (n.32026+8A>G) c.31885+8A>G (n.31885+8A>G) c.57928+8A>G (n.57928+8A>G) c.53326+8A>G (n.53326+8A>G) c.53323+8A>G (n.53323+8A>G) c.50365+8A>G (n.50365+8A>G) c.31981+8A>G (n.31981+8A>G) c.53476+8A>G (n.53476+8A>G) c.53473+8A>G (n.53473+8A>G) c.52906+8A>G (n.52906+8A>G) c.50248+8A>G (n.50248+8A>G) c.50167+8A>G (n.50167+8A>G) c.31930+8A>G (n.31930+8A>G) c.21784+8A>G (n.21784+8A>G) | dbSNP |
2 | g.178593165T= | CA1310540389 | TTN,TTN-AS1 | c.51331+8A= (n.51331+8A=) c.32416+8A= (n.32416+8A=) c.32215+8A= (n.32215+8A=) c.31840+8A= (n.31840+8A=) c.59035+8A= (n.59035+8A=) c.54112+8A= (n.54112+8A=) n.597-4431T= n.3364+1851T= c.58132+8A= (n.58132+8A=) c.32026+8A= (n.32026+8A=) c.31885+8A= (n.31885+8A=) c.57928+8A= (n.57928+8A=) c.53326+8A= (n.53326+8A=) c.53323+8A= (n.53323+8A=) c.50365+8A= (n.50365+8A=) c.31981+8A= (n.31981+8A=) c.53476+8A= (n.53476+8A=) c.53473+8A= (n.53473+8A=) c.52906+8A= (n.52906+8A=) c.50248+8A= (n.50248+8A=) c.50167+8A= (n.50167+8A=) c.31930+8A= (n.31930+8A=) c.21784+8A= (n.21784+8A=) | |
2 | g.178593167_178593169del | CA658657142 | TTN,TTN-AS1 | c.51331+6_51331+8del (n.51331+6_51331+8del) c.32416+6_32416+8del (n.32416+6_32416+8del) c.32215+6_32215+8del (n.32215+6_32215+8del) c.31840+6_31840+8del (n.31840+6_31840+8del) c.59035+6_59035+8del (n.59035+6_59035+8del) c.54112+6_54112+8del (n.54112+6_54112+8del) n.597-4429_597-4427del n.3364+1853_3364+1855del c.58132+6_58132+8del (n.58132+6_58132+8del) c.32026+6_32026+8del (n.32026+6_32026+8del) c.31885+6_31885+8del (n.31885+6_31885+8del) c.57928+6_57928+8del (n.57928+6_57928+8del) c.53326+6_53326+8del (n.53326+6_53326+8del) c.53323+6_53323+8del (n.53323+6_53323+8del) c.50365+6_50365+8del (n.50365+6_50365+8del) c.31981+6_31981+8del (n.31981+6_31981+8del) c.53476+6_53476+8del (n.53476+6_53476+8del) c.53473+6_53473+8del (n.53473+6_53473+8del) c.52906+6_52906+8del (n.52906+6_52906+8del) c.50248+6_50248+8del (n.50248+6_50248+8del) c.50167+6_50167+8del (n.50167+6_50167+8del) c.31930+6_31930+8del (n.31930+6_31930+8del) c.21784+6_21784+8del (n.21784+6_21784+8del) | ClinVar dbSNP gnomAD v4 |
2 | g.178593167C= | CA1310540392 | TTN,TTN-AS1 | c.51331+6G= (n.51331+6G=) c.32416+6G= (n.32416+6G=) c.32215+6G= (n.32215+6G=) c.31840+6G= (n.31840+6G=) c.59035+6G= (n.59035+6G=) c.54112+6G= (n.54112+6G=) n.597-4429C= n.3364+1853C= c.58132+6G= (n.58132+6G=) c.32026+6G= (n.32026+6G=) c.31885+6G= (n.31885+6G=) c.57928+6G= (n.57928+6G=) c.53326+6G= (n.53326+6G=) c.53323+6G= (n.53323+6G=) c.50365+6G= (n.50365+6G=) c.31981+6G= (n.31981+6G=) c.53476+6G= (n.53476+6G=) c.53473+6G= (n.53473+6G=) c.52906+6G= (n.52906+6G=) c.50248+6G= (n.50248+6G=) c.50167+6G= (n.50167+6G=) c.31930+6G= (n.31930+6G=) c.21784+6G= (n.21784+6G=) | |
2 | g.178593167C>T | CA60971151 | TTN,TTN-AS1 | c.51331+6G>A (n.51331+6G>A) c.32416+6G>A (n.32416+6G>A) c.32215+6G>A (n.32215+6G>A) c.31840+6G>A (n.31840+6G>A) c.59035+6G>A (n.59035+6G>A) c.54112+6G>A (n.54112+6G>A) n.597-4429C>T n.3364+1853C>T c.58132+6G>A (n.58132+6G>A) c.32026+6G>A (n.32026+6G>A) c.31885+6G>A (n.31885+6G>A) c.57928+6G>A (n.57928+6G>A) c.53326+6G>A (n.53326+6G>A) c.53323+6G>A (n.53323+6G>A) c.50365+6G>A (n.50365+6G>A) c.31981+6G>A (n.31981+6G>A) c.53476+6G>A (n.53476+6G>A) c.53473+6G>A (n.53473+6G>A) c.52906+6G>A (n.52906+6G>A) c.50248+6G>A (n.50248+6G>A) c.50167+6G>A (n.50167+6G>A) c.31930+6G>A (n.31930+6G>A) c.21784+6G>A (n.21784+6G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.178593170T>A | CA2662130871 | TTN,TTN-AS1 | c.51331+3A>T (n.51331+3A>T) c.32416+3A>T (n.32416+3A>T) c.32215+3A>T (n.32215+3A>T) c.31840+3A>T (n.31840+3A>T) c.59035+3A>T (n.59035+3A>T) c.54112+3A>T (n.54112+3A>T) n.597-4426T>A n.3364+1856T>A c.58132+3A>T (n.58132+3A>T) c.32026+3A>T (n.32026+3A>T) c.31885+3A>T (n.31885+3A>T) c.57928+3A>T (n.57928+3A>T) c.53326+3A>T (n.53326+3A>T) c.53323+3A>T (n.53323+3A>T) c.50365+3A>T (n.50365+3A>T) c.31981+3A>T (n.31981+3A>T) c.53476+3A>T (n.53476+3A>T) c.53473+3A>T (n.53473+3A>T) c.52906+3A>T (n.52906+3A>T) c.50248+3A>T (n.50248+3A>T) c.50167+3A>T (n.50167+3A>T) c.31930+3A>T (n.31930+3A>T) c.21784+3A>T (n.21784+3A>T) | gnomAD v4 |
2 | g.178593170T>C | CA538435606 | TTN,TTN-AS1 | c.51331+3A>G (n.51331+3A>G) c.32416+3A>G (n.32416+3A>G) c.32215+3A>G (n.32215+3A>G) c.31840+3A>G (n.31840+3A>G) c.59035+3A>G (n.59035+3A>G) c.54112+3A>G (n.54112+3A>G) n.597-4426T>C n.3364+1856T>C c.58132+3A>G (n.58132+3A>G) c.32026+3A>G (n.32026+3A>G) c.31885+3A>G (n.31885+3A>G) c.57928+3A>G (n.57928+3A>G) c.53326+3A>G (n.53326+3A>G) c.53323+3A>G (n.53323+3A>G) c.50365+3A>G (n.50365+3A>G) c.31981+3A>G (n.31981+3A>G) c.53476+3A>G (n.53476+3A>G) c.53473+3A>G (n.53473+3A>G) c.52906+3A>G (n.52906+3A>G) c.50248+3A>G (n.50248+3A>G) c.50167+3A>G (n.50167+3A>G) c.31930+3A>G (n.31930+3A>G) c.21784+3A>G (n.21784+3A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.178593170T= | CA1310540394 | TTN,TTN-AS1 | c.51331+3A= (n.51331+3A=) c.32416+3A= (n.32416+3A=) c.32215+3A= (n.32215+3A=) c.31840+3A= (n.31840+3A=) c.59035+3A= (n.59035+3A=) c.54112+3A= (n.54112+3A=) n.597-4426T= n.3364+1856T= c.58132+3A= (n.58132+3A=) c.32026+3A= (n.32026+3A=) c.31885+3A= (n.31885+3A=) c.57928+3A= (n.57928+3A=) c.53326+3A= (n.53326+3A=) c.53323+3A= (n.53323+3A=) c.50365+3A= (n.50365+3A=) c.31981+3A= (n.31981+3A=) c.53476+3A= (n.53476+3A=) c.53473+3A= (n.53473+3A=) c.52906+3A= (n.52906+3A=) c.50248+3A= (n.50248+3A=) c.50167+3A= (n.50167+3A=) c.31930+3A= (n.31930+3A=) c.21784+3A= (n.21784+3A=) | |
2 | g.178593171A= | CA1310540396 | TTN,TTN-AS1 | c.51331+2T= (n.51331+2T=) c.32416+2T= (n.32416+2T=) c.32215+2T= (n.32215+2T=) c.31840+2T= (n.31840+2T=) c.59035+2T= (n.59035+2T=) c.54112+2T= (n.54112+2T=) n.597-4425A= n.3364+1857A= c.58132+2T= (n.58132+2T=) c.32026+2T= (n.32026+2T=) c.31885+2T= (n.31885+2T=) c.57928+2T= (n.57928+2T=) c.53326+2T= (n.53326+2T=) c.53323+2T= (n.53323+2T=) c.50365+2T= (n.50365+2T=) c.31981+2T= (n.31981+2T=) c.53476+2T= (n.53476+2T=) c.53473+2T= (n.53473+2T=) c.52906+2T= (n.52906+2T=) c.50248+2T= (n.50248+2T=) c.50167+2T= (n.50167+2T=) c.31930+2T= (n.31930+2T=) c.21784+2T= (n.21784+2T=) | |
2 | g.178593171A>C | CA349499667 | TTN,TTN-AS1 | c.51331+2T>G (n.51331+2T>G) c.32416+2T>G (n.32416+2T>G) c.32215+2T>G (n.32215+2T>G) c.31840+2T>G (n.31840+2T>G) c.59035+2T>G (n.59035+2T>G) c.54112+2T>G (n.54112+2T>G) n.597-4425A>C n.3364+1857A>C c.58132+2T>G (n.58132+2T>G) c.32026+2T>G (n.32026+2T>G) c.31885+2T>G (n.31885+2T>G) c.57928+2T>G (n.57928+2T>G) c.53326+2T>G (n.53326+2T>G) c.53323+2T>G (n.53323+2T>G) c.50365+2T>G (n.50365+2T>G) c.31981+2T>G (n.31981+2T>G) c.53476+2T>G (n.53476+2T>G) c.53473+2T>G (n.53473+2T>G) c.52906+2T>G (n.52906+2T>G) c.50248+2T>G (n.50248+2T>G) c.50167+2T>G (n.50167+2T>G) c.31930+2T>G (n.31930+2T>G) c.21784+2T>G (n.21784+2T>G) | |
2 | g.178593171A>G | CA1992738 | TTN,TTN-AS1 | c.51331+2T>C (n.51331+2T>C) c.32416+2T>C (n.32416+2T>C) c.32215+2T>C (n.32215+2T>C) c.31840+2T>C (n.31840+2T>C) c.59035+2T>C (n.59035+2T>C) c.54112+2T>C (n.54112+2T>C) n.597-4425A>G n.3364+1857A>G c.58132+2T>C (n.58132+2T>C) c.32026+2T>C (n.32026+2T>C) c.31885+2T>C (n.31885+2T>C) c.57928+2T>C (n.57928+2T>C) c.53326+2T>C (n.53326+2T>C) c.53323+2T>C (n.53323+2T>C) c.50365+2T>C (n.50365+2T>C) c.31981+2T>C (n.31981+2T>C) c.53476+2T>C (n.53476+2T>C) c.53473+2T>C (n.53473+2T>C) c.52906+2T>C (n.52906+2T>C) c.50248+2T>C (n.50248+2T>C) c.50167+2T>C (n.50167+2T>C) c.31930+2T>C (n.31930+2T>C) c.21784+2T>C (n.21784+2T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178593171A>T | CA349499675 | TTN,TTN-AS1 | c.51331+2T>A (n.51331+2T>A) c.32416+2T>A (n.32416+2T>A) c.32215+2T>A (n.32215+2T>A) c.31840+2T>A (n.31840+2T>A) c.59035+2T>A (n.59035+2T>A) c.54112+2T>A (n.54112+2T>A) n.597-4425A>T n.3364+1857A>T c.58132+2T>A (n.58132+2T>A) c.32026+2T>A (n.32026+2T>A) c.31885+2T>A (n.31885+2T>A) c.57928+2T>A (n.57928+2T>A) c.53326+2T>A (n.53326+2T>A) c.53323+2T>A (n.53323+2T>A) c.50365+2T>A (n.50365+2T>A) c.31981+2T>A (n.31981+2T>A) c.53476+2T>A (n.53476+2T>A) c.53473+2T>A (n.53473+2T>A) c.52906+2T>A (n.52906+2T>A) c.50248+2T>A (n.50248+2T>A) c.50167+2T>A (n.50167+2T>A) c.31930+2T>A (n.31930+2T>A) c.21784+2T>A (n.21784+2T>A) | |
2 | g.178593172C>A | CA349499676 | TTN,TTN-AS1 | c.51331+1G>T (n.51331+1G>T) c.32416+1G>T (n.32416+1G>T) c.32215+1G>T (n.32215+1G>T) c.31840+1G>T (n.31840+1G>T) c.59035+1G>T (n.59035+1G>T) c.54112+1G>T (n.54112+1G>T) n.597-4424C>A n.3364+1858C>A c.58132+1G>T (n.58132+1G>T) c.32026+1G>T (n.32026+1G>T) c.31885+1G>T (n.31885+1G>T) c.57928+1G>T (n.57928+1G>T) c.53326+1G>T (n.53326+1G>T) c.53323+1G>T (n.53323+1G>T) c.50365+1G>T (n.50365+1G>T) c.31981+1G>T (n.31981+1G>T) c.53476+1G>T (n.53476+1G>T) c.53473+1G>T (n.53473+1G>T) c.52906+1G>T (n.52906+1G>T) c.50248+1G>T (n.50248+1G>T) c.50167+1G>T (n.50167+1G>T) c.31930+1G>T (n.31930+1G>T) c.21784+1G>T (n.21784+1G>T) | gnomAD v4 |
2 | g.178593172C= | CA1310540398 | TTN,TTN-AS1 | c.51331+1G= (n.51331+1G=) c.32416+1G= (n.32416+1G=) c.32215+1G= (n.32215+1G=) c.31840+1G= (n.31840+1G=) c.59035+1G= (n.59035+1G=) c.54112+1G= (n.54112+1G=) n.597-4424C= n.3364+1858C= c.58132+1G= (n.58132+1G=) c.32026+1G= (n.32026+1G=) c.31885+1G= (n.31885+1G=) c.57928+1G= (n.57928+1G=) c.53326+1G= (n.53326+1G=) c.53323+1G= (n.53323+1G=) c.50365+1G= (n.50365+1G=) c.31981+1G= (n.31981+1G=) c.53476+1G= (n.53476+1G=) c.53473+1G= (n.53473+1G=) c.52906+1G= (n.52906+1G=) c.50248+1G= (n.50248+1G=) c.50167+1G= (n.50167+1G=) c.31930+1G= (n.31930+1G=) c.21784+1G= (n.21784+1G=) | |
2 | g.178593172C>G | CA349499677 | TTN,TTN-AS1 | c.51331+1G>C (n.51331+1G>C) c.32416+1G>C (n.32416+1G>C) c.32215+1G>C (n.32215+1G>C) c.31840+1G>C (n.31840+1G>C) c.59035+1G>C (n.59035+1G>C) c.54112+1G>C (n.54112+1G>C) n.597-4424C>G n.3364+1858C>G c.58132+1G>C (n.58132+1G>C) c.32026+1G>C (n.32026+1G>C) c.31885+1G>C (n.31885+1G>C) c.57928+1G>C (n.57928+1G>C) c.53326+1G>C (n.53326+1G>C) c.53323+1G>C (n.53323+1G>C) c.50365+1G>C (n.50365+1G>C) c.31981+1G>C (n.31981+1G>C) c.53476+1G>C (n.53476+1G>C) c.53473+1G>C (n.53473+1G>C) c.52906+1G>C (n.52906+1G>C) c.50248+1G>C (n.50248+1G>C) c.50167+1G>C (n.50167+1G>C) c.31930+1G>C (n.31930+1G>C) c.21784+1G>C (n.21784+1G>C) | dbSNP |
2 | g.178593172C>T | CA349499681 | TTN,TTN-AS1 | c.51331+1G>A (n.51331+1G>A) c.32416+1G>A (n.32416+1G>A) c.32215+1G>A (n.32215+1G>A) c.31840+1G>A (n.31840+1G>A) c.59035+1G>A (n.59035+1G>A) c.54112+1G>A (n.54112+1G>A) n.597-4424C>T n.3364+1858C>T c.58132+1G>A (n.58132+1G>A) c.32026+1G>A (n.32026+1G>A) c.31885+1G>A (n.31885+1G>A) c.57928+1G>A (n.57928+1G>A) c.53326+1G>A (n.53326+1G>A) c.53323+1G>A (n.53323+1G>A) c.50365+1G>A (n.50365+1G>A) c.31981+1G>A (n.31981+1G>A) c.53476+1G>A (n.53476+1G>A) c.53473+1G>A (n.53473+1G>A) c.52906+1G>A (n.52906+1G>A) c.50248+1G>A (n.50248+1G>A) c.50167+1G>A (n.50167+1G>A) c.31930+1G>A (n.31930+1G>A) c.21784+1G>A (n.21784+1G>A) | |
2 | g.178593173C>A | CA349499686 | TTN,TTN-AS1 | c.51331G>T (p.Ala17111Ser) c.32416G>T (p.Ala10806Ser) c.32215G>T (p.Ala10739Ser) c.31840G>T (p.Ala10614Ser) c.59035G>T (p.Ala19679Ser) c.54112G>T (p.Ala18038Ser) n.597-4423C>A n.3364+1859C>A c.58132G>T (p.Ala19378Ser) c.32026G>T (p.Ala10676Ser) c.31885G>T (p.Ala10629Ser) c.57928G>T (p.Ala19310Ser) c.53326G>T (p.Ala17776Ser) c.53323G>T (p.Ala17775Ser) c.50365G>T (p.Ala16789Ser) c.31981G>T (p.Ala10661Ser) c.53476G>T (p.Ala17826Ser) c.53473G>T (p.Ala17825Ser) c.52906G>T (p.Ala17636Ser) c.50248G>T (p.Ala16750Ser) c.50167G>T (p.Ala16723Ser) c.31930G>T (p.Ala10644Ser) c.21784G>T (p.Ala7262Ser) | |
2 | g.178593173C>G | CA349499690 | TTN,TTN-AS1 | c.51331G>C (p.Ala17111Pro) c.32416G>C (p.Ala10806Pro) c.32215G>C (p.Ala10739Pro) c.31840G>C (p.Ala10614Pro) c.59035G>C (p.Ala19679Pro) c.54112G>C (p.Ala18038Pro) n.597-4423C>G n.3364+1859C>G c.58132G>C (p.Ala19378Pro) c.32026G>C (p.Ala10676Pro) c.31885G>C (p.Ala10629Pro) c.57928G>C (p.Ala19310Pro) c.53326G>C (p.Ala17776Pro) c.53323G>C (p.Ala17775Pro) c.50365G>C (p.Ala16789Pro) c.31981G>C (p.Ala10661Pro) c.53476G>C (p.Ala17826Pro) c.53473G>C (p.Ala17825Pro) c.52906G>C (p.Ala17636Pro) c.50248G>C (p.Ala16750Pro) c.50167G>C (p.Ala16723Pro) c.31930G>C (p.Ala10644Pro) c.21784G>C (p.Ala7262Pro) | |
2 | g.178593173C>T | CA349499685 | TTN,TTN-AS1 | c.51331G>A (p.Ala17111Thr) c.32416G>A (p.Ala10806Thr) c.32215G>A (p.Ala10739Thr) c.31840G>A (p.Ala10614Thr) c.59035G>A (p.Ala19679Thr) c.54112G>A (p.Ala18038Thr) n.597-4423C>T n.3364+1859C>T c.58132G>A (p.Ala19378Thr) c.32026G>A (p.Ala10676Thr) c.31885G>A (p.Ala10629Thr) c.57928G>A (p.Ala19310Thr) c.53326G>A (p.Ala17776Thr) c.53323G>A (p.Ala17775Thr) c.50365G>A (p.Ala16789Thr) c.31981G>A (p.Ala10661Thr) c.53476G>A (p.Ala17826Thr) c.53473G>A (p.Ala17825Thr) c.52906G>A (p.Ala17636Thr) c.50248G>A (p.Ala16750Thr) c.50167G>A (p.Ala16723Thr) c.31930G>A (p.Ala10644Thr) c.21784G>A (p.Ala7262Thr) | gnomAD v4 |
2 | g.178593174A>C | CA349499707 | TTN,TTN-AS1 | c.51330T>G (p.Ile17110Met) c.32415T>G (p.Ile10805Met) c.32214T>G (p.Ile10738Met) c.31839T>G (p.Ile10613Met) c.59034T>G (p.Ile19678Met) c.54111T>G (p.Ile18037Met) n.597-4422A>C n.3364+1860A>C c.58131T>G (p.Ile19377Met) c.32025T>G (p.Ile10675Met) c.31884T>G (p.Ile10628Met) c.57927T>G (p.Ile19309Met) c.53325T>G (p.Ile17775Met) c.53322T>G (p.Ile17774Met) c.50364T>G (p.Ile16788Met) c.31980T>G (p.Ile10660Met) c.53475T>G (p.Ile17825Met) c.53472T>G (p.Ile17824Met) c.52905T>G (p.Ile17635Met) c.50247T>G (p.Ile16749Met) c.50166T>G (p.Ile16722Met) c.31929T>G (p.Ile10643Met) c.21783T>G (p.Ile7261Met) | |
2 | g.178593174A>G | CA430267278 | TTN,TTN-AS1 | c.51330T>C (p.Ile17110=) c.32415T>C (p.Ile10805=) c.32214T>C (p.Ile10738=) c.31839T>C (p.Ile10613=) c.59034T>C (p.Ile19678=) c.54111T>C (p.Ile18037=) n.597-4422A>G n.3364+1860A>G c.58131T>C (p.Ile19377=) c.32025T>C (p.Ile10675=) c.31884T>C (p.Ile10628=) c.57927T>C (p.Ile19309=) c.53325T>C (p.Ile17775=) c.53322T>C (p.Ile17774=) c.50364T>C (p.Ile16788=) c.31980T>C (p.Ile10660=) c.53475T>C (p.Ile17825=) c.53472T>C (p.Ile17824=) c.52905T>C (p.Ile17635=) c.50247T>C (p.Ile16749=) c.50166T>C (p.Ile16722=) c.31929T>C (p.Ile10643=) c.21783T>C (p.Ile7261=) | |
2 | g.178593174A>T | CA430267277 | TTN,TTN-AS1 | c.51330T>A (p.Ile17110=) c.32415T>A (p.Ile10805=) c.32214T>A (p.Ile10738=) c.31839T>A (p.Ile10613=) c.59034T>A (p.Ile19678=) c.54111T>A (p.Ile18037=) n.597-4422A>T n.3364+1860A>T c.58131T>A (p.Ile19377=) c.32025T>A (p.Ile10675=) c.31884T>A (p.Ile10628=) c.57927T>A (p.Ile19309=) c.53325T>A (p.Ile17775=) c.53322T>A (p.Ile17774=) c.50364T>A (p.Ile16788=) c.31980T>A (p.Ile10660=) c.53475T>A (p.Ile17825=) c.53472T>A (p.Ile17824=) c.52905T>A (p.Ile17635=) c.50247T>A (p.Ile16749=) c.50166T>A (p.Ile16722=) c.31929T>A (p.Ile10643=) c.21783T>A (p.Ile7261=) | |
2 | g.178593175A= | CA1310540399 | TTN,TTN-AS1 | c.51329T= (p.Ile17110=) c.32414T= (p.Ile10805=) c.32213T= (p.Ile10738=) c.31838T= (p.Ile10613=) c.59033T= (p.Ile19678=) c.54110T= (p.Ile18037=) n.597-4421A= n.3364+1861A= c.58130T= (p.Ile19377=) c.32024T= (p.Ile10675=) c.31883T= (p.Ile10628=) c.57926T= (p.Ile19309=) c.53324T= (p.Ile17775=) c.53321T= (p.Ile17774=) c.50363T= (p.Ile16788=) c.31979T= (p.Ile10660=) c.53474T= (p.Ile17825=) c.53471T= (p.Ile17824=) c.52904T= (p.Ile17635=) c.50246T= (p.Ile16749=) c.50165T= (p.Ile16722=) c.31928T= (p.Ile10643=) c.21782T= (p.Ile7261=) | |
2 | g.178593175A>C | CA349499709 | TTN,TTN-AS1 | c.51329T>G (p.Ile17110Ser) c.32414T>G (p.Ile10805Ser) c.32213T>G (p.Ile10738Ser) c.31838T>G (p.Ile10613Ser) c.59033T>G (p.Ile19678Ser) c.54110T>G (p.Ile18037Ser) n.597-4421A>C n.3364+1861A>C c.58130T>G (p.Ile19377Ser) c.32024T>G (p.Ile10675Ser) c.31883T>G (p.Ile10628Ser) c.57926T>G (p.Ile19309Ser) c.53324T>G (p.Ile17775Ser) c.53321T>G (p.Ile17774Ser) c.50363T>G (p.Ile16788Ser) c.31979T>G (p.Ile10660Ser) c.53474T>G (p.Ile17825Ser) c.53471T>G (p.Ile17824Ser) c.52904T>G (p.Ile17635Ser) c.50246T>G (p.Ile16749Ser) c.50165T>G (p.Ile16722Ser) c.31928T>G (p.Ile10643Ser) c.21782T>G (p.Ile7261Ser) | gnomAD v4 |
2 | g.178593175A>G | CA1992739 | TTN,TTN-AS1 | c.51329T>C (p.Ile17110Thr) c.32414T>C (p.Ile10805Thr) c.32213T>C (p.Ile10738Thr) c.31838T>C (p.Ile10613Thr) c.59033T>C (p.Ile19678Thr) c.54110T>C (p.Ile18037Thr) n.597-4421A>G n.3364+1861A>G c.58130T>C (p.Ile19377Thr) c.32024T>C (p.Ile10675Thr) c.31883T>C (p.Ile10628Thr) c.57926T>C (p.Ile19309Thr) c.53324T>C (p.Ile17775Thr) c.53321T>C (p.Ile17774Thr) c.50363T>C (p.Ile16788Thr) c.31979T>C (p.Ile10660Thr) c.53474T>C (p.Ile17825Thr) c.53471T>C (p.Ile17824Thr) c.52904T>C (p.Ile17635Thr) c.50246T>C (p.Ile16749Thr) c.50165T>C (p.Ile16722Thr) c.31928T>C (p.Ile10643Thr) c.21782T>C (p.Ile7261Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178593175A>T | CA349499734 | TTN,TTN-AS1 | c.51329T>A (p.Ile17110Asn) c.32414T>A (p.Ile10805Asn) c.32213T>A (p.Ile10738Asn) c.31838T>A (p.Ile10613Asn) c.59033T>A (p.Ile19678Asn) c.54110T>A (p.Ile18037Asn) n.597-4421A>T n.3364+1861A>T c.58130T>A (p.Ile19377Asn) c.32024T>A (p.Ile10675Asn) c.31883T>A (p.Ile10628Asn) c.57926T>A (p.Ile19309Asn) c.53324T>A (p.Ile17775Asn) c.53321T>A (p.Ile17774Asn) c.50363T>A (p.Ile16788Asn) c.31979T>A (p.Ile10660Asn) c.53474T>A (p.Ile17825Asn) c.53471T>A (p.Ile17824Asn) c.52904T>A (p.Ile17635Asn) c.50246T>A (p.Ile16749Asn) c.50165T>A (p.Ile16722Asn) c.31928T>A (p.Ile10643Asn) c.21782T>A (p.Ile7261Asn) | |
2 | g.178593176T>A | CA349499748 | TTN,TTN-AS1 | c.51328A>T (p.Ile17110Phe) c.32413A>T (p.Ile10805Phe) c.32212A>T (p.Ile10738Phe) c.31837A>T (p.Ile10613Phe) c.59032A>T (p.Ile19678Phe) c.54109A>T (p.Ile18037Phe) n.597-4420T>A n.3364+1862T>A c.58129A>T (p.Ile19377Phe) c.32023A>T (p.Ile10675Phe) c.31882A>T (p.Ile10628Phe) c.57925A>T (p.Ile19309Phe) c.53323A>T (p.Ile17775Phe) c.53320A>T (p.Ile17774Phe) c.50362A>T (p.Ile16788Phe) c.31978A>T (p.Ile10660Phe) c.53473A>T (p.Ile17825Phe) c.53470A>T (p.Ile17824Phe) c.52903A>T (p.Ile17635Phe) c.50245A>T (p.Ile16749Phe) c.50164A>T (p.Ile16722Phe) c.31927A>T (p.Ile10643Phe) c.21781A>T (p.Ile7261Phe) | |
2 | g.178593176T>C | CA1992740 | TTN,TTN-AS1 | c.51328A>G (p.Ile17110Val) c.32413A>G (p.Ile10805Val) c.32212A>G (p.Ile10738Val) c.31837A>G (p.Ile10613Val) c.59032A>G (p.Ile19678Val) c.54109A>G (p.Ile18037Val) n.597-4420T>C n.3364+1862T>C c.58129A>G (p.Ile19377Val) c.32023A>G (p.Ile10675Val) c.31882A>G (p.Ile10628Val) c.57925A>G (p.Ile19309Val) c.53323A>G (p.Ile17775Val) c.53320A>G (p.Ile17774Val) c.50362A>G (p.Ile16788Val) c.31978A>G (p.Ile10660Val) c.53473A>G (p.Ile17825Val) c.53470A>G (p.Ile17824Val) c.52903A>G (p.Ile17635Val) c.50245A>G (p.Ile16749Val) c.50164A>G (p.Ile16722Val) c.31927A>G (p.Ile10643Val) c.21781A>G (p.Ile7261Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178593176T>G | CA349499745 | TTN,TTN-AS1 | c.51328A>C (p.Ile17110Leu) c.32413A>C (p.Ile10805Leu) c.32212A>C (p.Ile10738Leu) c.31837A>C (p.Ile10613Leu) c.59032A>C (p.Ile19678Leu) c.54109A>C (p.Ile18037Leu) n.597-4420T>G n.3364+1862T>G c.58129A>C (p.Ile19377Leu) c.32023A>C (p.Ile10675Leu) c.31882A>C (p.Ile10628Leu) c.57925A>C (p.Ile19309Leu) c.53323A>C (p.Ile17775Leu) c.53320A>C (p.Ile17774Leu) c.50362A>C (p.Ile16788Leu) c.31978A>C (p.Ile10660Leu) c.53473A>C (p.Ile17825Leu) c.53470A>C (p.Ile17824Leu) c.52903A>C (p.Ile17635Leu) c.50245A>C (p.Ile16749Leu) c.50164A>C (p.Ile16722Leu) c.31927A>C (p.Ile10643Leu) c.21781A>C (p.Ile7261Leu) | |
2 | g.178593176T= | CA1310540401 | TTN,TTN-AS1 | c.51328A= (p.Ile17110=) c.32413A= (p.Ile10805=) c.32212A= (p.Ile10738=) c.31837A= (p.Ile10613=) c.59032A= (p.Ile19678=) c.54109A= (p.Ile18037=) n.597-4420T= n.3364+1862T= c.58129A= (p.Ile19377=) c.32023A= (p.Ile10675=) c.31882A= (p.Ile10628=) c.57925A= (p.Ile19309=) c.53323A= (p.Ile17775=) c.53320A= (p.Ile17774=) c.50362A= (p.Ile16788=) c.31978A= (p.Ile10660=) c.53473A= (p.Ile17825=) c.53470A= (p.Ile17824=) c.52903A= (p.Ile17635=) c.50245A= (p.Ile16749=) c.50164A= (p.Ile16722=) c.31927A= (p.Ile10643=) c.21781A= (p.Ile7261=) | |
2 | g.178593177T>A | CA430267288 | TTN,TTN-AS1 | c.51327A>T (p.Pro17109=) c.32412A>T (p.Pro10804=) c.32211A>T (p.Pro10737=) c.31836A>T (p.Pro10612=) c.59031A>T (p.Pro19677=) c.54108A>T (p.Pro18036=) n.597-4419T>A n.3364+1863T>A c.58128A>T (p.Pro19376=) c.32022A>T (p.Pro10674=) c.31881A>T (p.Pro10627=) c.57924A>T (p.Pro19308=) c.53322A>T (p.Pro17774=) c.53319A>T (p.Pro17773=) c.50361A>T (p.Pro16787=) c.31977A>T (p.Pro10659=) c.53472A>T (p.Pro17824=) c.53469A>T (p.Pro17823=) c.52902A>T (p.Pro17634=) c.50244A>T (p.Pro16748=) c.50163A>T (p.Pro16721=) c.31926A>T (p.Pro10642=) c.21780A>T (p.Pro7260=) | |
2 | g.178593177T>C | CA10603837 | TTN,TTN-AS1 | c.51327A>G (p.Pro17109=) c.32412A>G (p.Pro10804=) c.32211A>G (p.Pro10737=) c.31836A>G (p.Pro10612=) c.59031A>G (p.Pro19677=) c.54108A>G (p.Pro18036=) n.597-4419T>C n.3364+1863T>C c.58128A>G (p.Pro19376=) c.32022A>G (p.Pro10674=) c.31881A>G (p.Pro10627=) c.57924A>G (p.Pro19308=) c.53322A>G (p.Pro17774=) c.53319A>G (p.Pro17773=) c.50361A>G (p.Pro16787=) c.31977A>G (p.Pro10659=) c.53472A>G (p.Pro17824=) c.53469A>G (p.Pro17823=) c.52902A>G (p.Pro17634=) c.50244A>G (p.Pro16748=) c.50163A>G (p.Pro16721=) c.31926A>G (p.Pro10642=) c.21780A>G (p.Pro7260=) | ClinVar dbSNP gnomAD v4 |
2 | g.178593177T>G | CA430267289 | TTN,TTN-AS1 | c.51327A>C (p.Pro17109=) c.32412A>C (p.Pro10804=) c.32211A>C (p.Pro10737=) c.31836A>C (p.Pro10612=) c.59031A>C (p.Pro19677=) c.54108A>C (p.Pro18036=) n.597-4419T>G n.3364+1863T>G c.58128A>C (p.Pro19376=) c.32022A>C (p.Pro10674=) c.31881A>C (p.Pro10627=) c.57924A>C (p.Pro19308=) c.53322A>C (p.Pro17774=) c.53319A>C (p.Pro17773=) c.50361A>C (p.Pro16787=) c.31977A>C (p.Pro10659=) c.53472A>C (p.Pro17824=) c.53469A>C (p.Pro17823=) c.52902A>C (p.Pro17634=) c.50244A>C (p.Pro16748=) c.50163A>C (p.Pro16721=) c.31926A>C (p.Pro10642=) c.21780A>C (p.Pro7260=) | |
2 | g.178593177T= | CA1310540403 | TTN,TTN-AS1 | c.51327A= (p.Pro17109=) c.32412A= (p.Pro10804=) c.32211A= (p.Pro10737=) c.31836A= (p.Pro10612=) c.59031A= (p.Pro19677=) c.54108A= (p.Pro18036=) n.597-4419T= n.3364+1863T= c.58128A= (p.Pro19376=) c.32022A= (p.Pro10674=) c.31881A= (p.Pro10627=) c.57924A= (p.Pro19308=) c.53322A= (p.Pro17774=) c.53319A= (p.Pro17773=) c.50361A= (p.Pro16787=) c.31977A= (p.Pro10659=) c.53472A= (p.Pro17824=) c.53469A= (p.Pro17823=) c.52902A= (p.Pro17634=) c.50244A= (p.Pro16748=) c.50163A= (p.Pro16721=) c.31926A= (p.Pro10642=) c.21780A= (p.Pro7260=) | |
2 | g.178593178G>A | CA349499753 | TTN,TTN-AS1 | c.51326C>T (p.Pro17109Leu) c.32411C>T (p.Pro10804Leu) c.32210C>T (p.Pro10737Leu) c.31835C>T (p.Pro10612Leu) c.59030C>T (p.Pro19677Leu) c.54107C>T (p.Pro18036Leu) n.597-4418G>A n.3364+1864G>A c.58127C>T (p.Pro19376Leu) c.32021C>T (p.Pro10674Leu) c.31880C>T (p.Pro10627Leu) c.57923C>T (p.Pro19308Leu) c.53321C>T (p.Pro17774Leu) c.53318C>T (p.Pro17773Leu) c.50360C>T (p.Pro16787Leu) c.31976C>T (p.Pro10659Leu) c.53471C>T (p.Pro17824Leu) c.53468C>T (p.Pro17823Leu) c.52901C>T (p.Pro17634Leu) c.50243C>T (p.Pro16748Leu) c.50162C>T (p.Pro16721Leu) c.31925C>T (p.Pro10642Leu) c.21779C>T (p.Pro7260Leu) | |
2 | g.178593178G>C | CA349499757 | TTN,TTN-AS1 | c.51326C>G (p.Pro17109Arg) c.32411C>G (p.Pro10804Arg) c.32210C>G (p.Pro10737Arg) c.31835C>G (p.Pro10612Arg) c.59030C>G (p.Pro19677Arg) c.54107C>G (p.Pro18036Arg) n.597-4418G>C n.3364+1864G>C c.58127C>G (p.Pro19376Arg) c.32021C>G (p.Pro10674Arg) c.31880C>G (p.Pro10627Arg) c.57923C>G (p.Pro19308Arg) c.53321C>G (p.Pro17774Arg) c.53318C>G (p.Pro17773Arg) c.50360C>G (p.Pro16787Arg) c.31976C>G (p.Pro10659Arg) c.53471C>G (p.Pro17824Arg) c.53468C>G (p.Pro17823Arg) c.52901C>G (p.Pro17634Arg) c.50243C>G (p.Pro16748Arg) c.50162C>G (p.Pro16721Arg) c.31925C>G (p.Pro10642Arg) c.21779C>G (p.Pro7260Arg) | |
2 | g.178593178G>T | CA349499767 | TTN,TTN-AS1 | c.51326C>A (p.Pro17109Gln) c.32411C>A (p.Pro10804Gln) c.32210C>A (p.Pro10737Gln) c.31835C>A (p.Pro10612Gln) c.59030C>A (p.Pro19677Gln) c.54107C>A (p.Pro18036Gln) n.597-4418G>T n.3364+1864G>T c.58127C>A (p.Pro19376Gln) c.32021C>A (p.Pro10674Gln) c.31880C>A (p.Pro10627Gln) c.57923C>A (p.Pro19308Gln) c.53321C>A (p.Pro17774Gln) c.53318C>A (p.Pro17773Gln) c.50360C>A (p.Pro16787Gln) c.31976C>A (p.Pro10659Gln) c.53471C>A (p.Pro17824Gln) c.53468C>A (p.Pro17823Gln) c.52901C>A (p.Pro17634Gln) c.50243C>A (p.Pro16748Gln) c.50162C>A (p.Pro16721Gln) c.31925C>A (p.Pro10642Gln) c.21779C>A (p.Pro7260Gln) | COSMIC COSMIC COSMIC |
2 | g.178593179G>A | CA349499772 | TTN,TTN-AS1 | c.51325C>T (p.Pro17109Ser) c.32410C>T (p.Pro10804Ser) c.32209C>T (p.Pro10737Ser) c.31834C>T (p.Pro10612Ser) c.59029C>T (p.Pro19677Ser) c.54106C>T (p.Pro18036Ser) n.597-4417G>A n.3364+1865G>A c.58126C>T (p.Pro19376Ser) c.32020C>T (p.Pro10674Ser) c.31879C>T (p.Pro10627Ser) c.57922C>T (p.Pro19308Ser) c.53320C>T (p.Pro17774Ser) c.53317C>T (p.Pro17773Ser) c.50359C>T (p.Pro16787Ser) c.31975C>T (p.Pro10659Ser) c.53470C>T (p.Pro17824Ser) c.53467C>T (p.Pro17823Ser) c.52900C>T (p.Pro17634Ser) c.50242C>T (p.Pro16748Ser) c.50161C>T (p.Pro16721Ser) c.31924C>T (p.Pro10642Ser) c.21778C>T (p.Pro7260Ser) | dbSNP |
2 | g.178593179G>C | CA349499773 | TTN,TTN-AS1 | c.51325C>G (p.Pro17109Ala) c.32410C>G (p.Pro10804Ala) c.32209C>G (p.Pro10737Ala) c.31834C>G (p.Pro10612Ala) c.59029C>G (p.Pro19677Ala) c.54106C>G (p.Pro18036Ala) n.597-4417G>C n.3364+1865G>C c.58126C>G (p.Pro19376Ala) c.32020C>G (p.Pro10674Ala) c.31879C>G (p.Pro10627Ala) c.57922C>G (p.Pro19308Ala) c.53320C>G (p.Pro17774Ala) c.53317C>G (p.Pro17773Ala) c.50359C>G (p.Pro16787Ala) c.31975C>G (p.Pro10659Ala) c.53470C>G (p.Pro17824Ala) c.53467C>G (p.Pro17823Ala) c.52900C>G (p.Pro17634Ala) c.50242C>G (p.Pro16748Ala) c.50161C>G (p.Pro16721Ala) c.31924C>G (p.Pro10642Ala) c.21778C>G (p.Pro7260Ala) | |
2 | g.178593179G= | CA1310540405 | TTN,TTN-AS1 | c.51325C= (p.Pro17109=) c.32410C= (p.Pro10804=) c.32209C= (p.Pro10737=) c.31834C= (p.Pro10612=) c.59029C= (p.Pro19677=) c.54106C= (p.Pro18036=) n.597-4417G= n.3364+1865G= c.58126C= (p.Pro19376=) c.32020C= (p.Pro10674=) c.31879C= (p.Pro10627=) c.57922C= (p.Pro19308=) c.53320C= (p.Pro17774=) c.53317C= (p.Pro17773=) c.50359C= (p.Pro16787=) c.31975C= (p.Pro10659=) c.53470C= (p.Pro17824=) c.53467C= (p.Pro17823=) c.52900C= (p.Pro17634=) c.50242C= (p.Pro16748=) c.50161C= (p.Pro16721=) c.31924C= (p.Pro10642=) c.21778C= (p.Pro7260=) | |
2 | g.178593179G>T | CA349499774 | TTN,TTN-AS1 | c.51325C>A (p.Pro17109Thr) c.32410C>A (p.Pro10804Thr) c.32209C>A (p.Pro10737Thr) c.31834C>A (p.Pro10612Thr) c.59029C>A (p.Pro19677Thr) c.54106C>A (p.Pro18036Thr) n.597-4417G>T n.3364+1865G>T c.58126C>A (p.Pro19376Thr) c.32020C>A (p.Pro10674Thr) c.31879C>A (p.Pro10627Thr) c.57922C>A (p.Pro19308Thr) c.53320C>A (p.Pro17774Thr) c.53317C>A (p.Pro17773Thr) c.50359C>A (p.Pro16787Thr) c.31975C>A (p.Pro10659Thr) c.53470C>A (p.Pro17824Thr) c.53467C>A (p.Pro17823Thr) c.52900C>A (p.Pro17634Thr) c.50242C>A (p.Pro16748Thr) c.50161C>A (p.Pro16721Thr) c.31924C>A (p.Pro10642Thr) c.21778C>A (p.Pro7260Thr) | |
2 | g.178593180A>C | CA349499778 | TTN,TTN-AS1 | c.51324T>G (p.Asp17108Glu) c.32409T>G (p.Asp10803Glu) c.32208T>G (p.Asp10736Glu) c.31833T>G (p.Asp10611Glu) c.59028T>G (p.Asp19676Glu) c.54105T>G (p.Asp18035Glu) n.597-4416A>C n.3364+1866A>C c.58125T>G (p.Asp19375Glu) c.32019T>G (p.Asp10673Glu) c.31878T>G (p.Asp10626Glu) c.57921T>G (p.Asp19307Glu) c.53319T>G (p.Asp17773Glu) c.53316T>G (p.Asp17772Glu) c.50358T>G (p.Asp16786Glu) c.31974T>G (p.Asp10658Glu) c.53469T>G (p.Asp17823Glu) c.53466T>G (p.Asp17822Glu) c.52899T>G (p.Asp17633Glu) c.50241T>G (p.Asp16747Glu) c.50160T>G (p.Asp16720Glu) c.31923T>G (p.Asp10641Glu) c.21777T>G (p.Asp7259Glu) | |
2 | g.178593180A>G | CA430267294 | TTN,TTN-AS1 | c.51324T>C (p.Asp17108=) c.32409T>C (p.Asp10803=) c.32208T>C (p.Asp10736=) c.31833T>C (p.Asp10611=) c.59028T>C (p.Asp19676=) c.54105T>C (p.Asp18035=) n.597-4416A>G n.3364+1866A>G c.58125T>C (p.Asp19375=) c.32019T>C (p.Asp10673=) c.31878T>C (p.Asp10626=) c.57921T>C (p.Asp19307=) c.53319T>C (p.Asp17773=) c.53316T>C (p.Asp17772=) c.50358T>C (p.Asp16786=) c.31974T>C (p.Asp10658=) c.53469T>C (p.Asp17823=) c.53466T>C (p.Asp17822=) c.52899T>C (p.Asp17633=) c.50241T>C (p.Asp16747=) c.50160T>C (p.Asp16720=) c.31923T>C (p.Asp10641=) c.21777T>C (p.Asp7259=) | |
2 | g.178593180A>T | CA349499777 | TTN,TTN-AS1 | c.51324T>A (p.Asp17108Glu) c.32409T>A (p.Asp10803Glu) c.32208T>A (p.Asp10736Glu) c.31833T>A (p.Asp10611Glu) c.59028T>A (p.Asp19676Glu) c.54105T>A (p.Asp18035Glu) n.597-4416A>T n.3364+1866A>T c.58125T>A (p.Asp19375Glu) c.32019T>A (p.Asp10673Glu) c.31878T>A (p.Asp10626Glu) c.57921T>A (p.Asp19307Glu) c.53319T>A (p.Asp17773Glu) c.53316T>A (p.Asp17772Glu) c.50358T>A (p.Asp16786Glu) c.31974T>A (p.Asp10658Glu) c.53469T>A (p.Asp17823Glu) c.53466T>A (p.Asp17822Glu) c.52899T>A (p.Asp17633Glu) c.50241T>A (p.Asp16747Glu) c.50160T>A (p.Asp16720Glu) c.31923T>A (p.Asp10641Glu) c.21777T>A (p.Asp7259Glu) | gnomAD v4 |
2 | g.178593181T>A | CA349499782 | TTN,TTN-AS1 | c.51323A>T (p.Asp17108Val) c.32408A>T (p.Asp10803Val) c.32207A>T (p.Asp10736Val) c.31832A>T (p.Asp10611Val) c.59027A>T (p.Asp19676Val) c.54104A>T (p.Asp18035Val) n.597-4415T>A n.3364+1867T>A c.58124A>T (p.Asp19375Val) c.32018A>T (p.Asp10673Val) c.31877A>T (p.Asp10626Val) c.57920A>T (p.Asp19307Val) c.53318A>T (p.Asp17773Val) c.53315A>T (p.Asp17772Val) c.50357A>T (p.Asp16786Val) c.31973A>T (p.Asp10658Val) c.53468A>T (p.Asp17823Val) c.53465A>T (p.Asp17822Val) c.52898A>T (p.Asp17633Val) c.50240A>T (p.Asp16747Val) c.50159A>T (p.Asp16720Val) c.31922A>T (p.Asp10641Val) c.21776A>T (p.Asp7259Val) | |
2 | g.178593181T>C | CA349499793 | TTN,TTN-AS1 | c.51323A>G (p.Asp17108Gly) c.32408A>G (p.Asp10803Gly) c.32207A>G (p.Asp10736Gly) c.31832A>G (p.Asp10611Gly) c.59027A>G (p.Asp19676Gly) c.54104A>G (p.Asp18035Gly) n.597-4415T>C n.3364+1867T>C c.58124A>G (p.Asp19375Gly) c.32018A>G (p.Asp10673Gly) c.31877A>G (p.Asp10626Gly) c.57920A>G (p.Asp19307Gly) c.53318A>G (p.Asp17773Gly) c.53315A>G (p.Asp17772Gly) c.50357A>G (p.Asp16786Gly) c.31973A>G (p.Asp10658Gly) c.53468A>G (p.Asp17823Gly) c.53465A>G (p.Asp17822Gly) c.52898A>G (p.Asp17633Gly) c.50240A>G (p.Asp16747Gly) c.50159A>G (p.Asp16720Gly) c.31922A>G (p.Asp10641Gly) c.21776A>G (p.Asp7259Gly) | |
2 | g.178593181T>G | CA349499784 | TTN,TTN-AS1 | c.51323A>C (p.Asp17108Ala) c.32408A>C (p.Asp10803Ala) c.32207A>C (p.Asp10736Ala) c.31832A>C (p.Asp10611Ala) c.59027A>C (p.Asp19676Ala) c.54104A>C (p.Asp18035Ala) n.597-4415T>G n.3364+1867T>G c.58124A>C (p.Asp19375Ala) c.32018A>C (p.Asp10673Ala) c.31877A>C (p.Asp10626Ala) c.57920A>C (p.Asp19307Ala) c.53318A>C (p.Asp17773Ala) c.53315A>C (p.Asp17772Ala) c.50357A>C (p.Asp16786Ala) c.31973A>C (p.Asp10658Ala) c.53468A>C (p.Asp17823Ala) c.53465A>C (p.Asp17822Ala) c.52898A>C (p.Asp17633Ala) c.50240A>C (p.Asp16747Ala) c.50159A>C (p.Asp16720Ala) c.31922A>C (p.Asp10641Ala) c.21776A>C (p.Asp7259Ala) | |
2 | g.178593182C>A | CA1992741 | TTN,TTN-AS1 | c.51322G>T (p.Asp17108Tyr) c.32407G>T (p.Asp10803Tyr) c.32206G>T (p.Asp10736Tyr) c.31831G>T (p.Asp10611Tyr) c.59026G>T (p.Asp19676Tyr) c.54103G>T (p.Asp18035Tyr) n.597-4414C>A n.3364+1868C>A c.58123G>T (p.Asp19375Tyr) c.32017G>T (p.Asp10673Tyr) c.31876G>T (p.Asp10626Tyr) c.57919G>T (p.Asp19307Tyr) c.53317G>T (p.Asp17773Tyr) c.53314G>T (p.Asp17772Tyr) c.50356G>T (p.Asp16786Tyr) c.31972G>T (p.Asp10658Tyr) c.53467G>T (p.Asp17823Tyr) c.53464G>T (p.Asp17822Tyr) c.52897G>T (p.Asp17633Tyr) c.50239G>T (p.Asp16747Tyr) c.50158G>T (p.Asp16720Tyr) c.31921G>T (p.Asp10641Tyr) c.21775G>T (p.Asp7259Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178593182C= | CA1310540408 | TTN,TTN-AS1 | c.51322G= (p.Asp17108=) c.32407G= (p.Asp10803=) c.32206G= (p.Asp10736=) c.31831G= (p.Asp10611=) c.59026G= (p.Asp19676=) c.54103G= (p.Asp18035=) n.597-4414C= n.3364+1868C= c.58123G= (p.Asp19375=) c.32017G= (p.Asp10673=) c.31876G= (p.Asp10626=) c.57919G= (p.Asp19307=) c.53317G= (p.Asp17773=) c.53314G= (p.Asp17772=) c.50356G= (p.Asp16786=) c.31972G= (p.Asp10658=) c.53467G= (p.Asp17823=) c.53464G= (p.Asp17822=) c.52897G= (p.Asp17633=) c.50239G= (p.Asp16747=) c.50158G= (p.Asp16720=) c.31921G= (p.Asp10641=) c.21775G= (p.Asp7259=) | |
2 | g.178593182C>G | CA349499809 | TTN,TTN-AS1 | c.51322G>C (p.Asp17108His) c.32407G>C (p.Asp10803His) c.32206G>C (p.Asp10736His) c.31831G>C (p.Asp10611His) c.59026G>C (p.Asp19676His) c.54103G>C (p.Asp18035His) n.597-4414C>G n.3364+1868C>G c.58123G>C (p.Asp19375His) c.32017G>C (p.Asp10673His) c.31876G>C (p.Asp10626His) c.57919G>C (p.Asp19307His) c.53317G>C (p.Asp17773His) c.53314G>C (p.Asp17772His) c.50356G>C (p.Asp16786His) c.31972G>C (p.Asp10658His) c.53467G>C (p.Asp17823His) c.53464G>C (p.Asp17822His) c.52897G>C (p.Asp17633His) c.50239G>C (p.Asp16747His) c.50158G>C (p.Asp16720His) c.31921G>C (p.Asp10641His) c.21775G>C (p.Asp7259His) | |
2 | g.178593182C>T | CA349499805 | TTN,TTN-AS1 | c.51322G>A (p.Asp17108Asn) c.32407G>A (p.Asp10803Asn) c.32206G>A (p.Asp10736Asn) c.31831G>A (p.Asp10611Asn) c.59026G>A (p.Asp19676Asn) c.54103G>A (p.Asp18035Asn) n.597-4414C>T n.3364+1868C>T c.58123G>A (p.Asp19375Asn) c.32017G>A (p.Asp10673Asn) c.31876G>A (p.Asp10626Asn) c.57919G>A (p.Asp19307Asn) c.53317G>A (p.Asp17773Asn) c.53314G>A (p.Asp17772Asn) c.50356G>A (p.Asp16786Asn) c.31972G>A (p.Asp10658Asn) c.53467G>A (p.Asp17823Asn) c.53464G>A (p.Asp17822Asn) c.52897G>A (p.Asp17633Asn) c.50239G>A (p.Asp16747Asn) c.50158G>A (p.Asp16720Asn) c.31921G>A (p.Asp10641Asn) c.21775G>A (p.Asp7259Asn) | |
2 | g.178593183T>A | CA349499815 | TTN,TTN-AS1 | c.51321A>T (p.Lys17107Asn) c.32406A>T (p.Lys10802Asn) c.32205A>T (p.Lys10735Asn) c.31830A>T (p.Lys10610Asn) c.59025A>T (p.Lys19675Asn) c.54102A>T (p.Lys18034Asn) n.597-4413T>A n.3364+1869T>A c.58122A>T (p.Lys19374Asn) c.32016A>T (p.Lys10672Asn) c.31875A>T (p.Lys10625Asn) c.57918A>T (p.Lys19306Asn) c.53316A>T (p.Lys17772Asn) c.53313A>T (p.Lys17771Asn) c.50355A>T (p.Lys16785Asn) c.31971A>T (p.Lys10657Asn) c.53466A>T (p.Lys17822Asn) c.53463A>T (p.Lys17821Asn) c.52896A>T (p.Lys17632Asn) c.50238A>T (p.Lys16746Asn) c.50157A>T (p.Lys16719Asn) c.31920A>T (p.Lys10640Asn) c.21774A>T (p.Lys7258Asn) | |
2 | g.178593183T>C | CA430267303 | TTN,TTN-AS1 | c.51321A>G (p.Lys17107=) c.32406A>G (p.Lys10802=) c.32205A>G (p.Lys10735=) c.31830A>G (p.Lys10610=) c.59025A>G (p.Lys19675=) c.54102A>G (p.Lys18034=) n.597-4413T>C n.3364+1869T>C c.58122A>G (p.Lys19374=) c.32016A>G (p.Lys10672=) c.31875A>G (p.Lys10625=) c.57918A>G (p.Lys19306=) c.53316A>G (p.Lys17772=) c.53313A>G (p.Lys17771=) c.50355A>G (p.Lys16785=) c.31971A>G (p.Lys10657=) c.53466A>G (p.Lys17822=) c.53463A>G (p.Lys17821=) c.52896A>G (p.Lys17632=) c.50238A>G (p.Lys16746=) c.50157A>G (p.Lys16719=) c.31920A>G (p.Lys10640=) c.21774A>G (p.Lys7258=) | |
2 | g.178593183T>G | CA349499828 | TTN,TTN-AS1 | c.51321A>C (p.Lys17107Asn) c.32406A>C (p.Lys10802Asn) c.32205A>C (p.Lys10735Asn) c.31830A>C (p.Lys10610Asn) c.59025A>C (p.Lys19675Asn) c.54102A>C (p.Lys18034Asn) n.597-4413T>G n.3364+1869T>G c.58122A>C (p.Lys19374Asn) c.32016A>C (p.Lys10672Asn) c.31875A>C (p.Lys10625Asn) c.57918A>C (p.Lys19306Asn) c.53316A>C (p.Lys17772Asn) c.53313A>C (p.Lys17771Asn) c.50355A>C (p.Lys16785Asn) c.31971A>C (p.Lys10657Asn) c.53466A>C (p.Lys17822Asn) c.53463A>C (p.Lys17821Asn) c.52896A>C (p.Lys17632Asn) c.50238A>C (p.Lys16746Asn) c.50157A>C (p.Lys16719Asn) c.31920A>C (p.Lys10640Asn) c.21774A>C (p.Lys7258Asn) | |
2 | g.178593184T>A | CA349499832 | TTN,TTN-AS1 | c.51320A>T (p.Lys17107Ile) c.32405A>T (p.Lys10802Ile) c.32204A>T (p.Lys10735Ile) c.31829A>T (p.Lys10610Ile) c.59024A>T (p.Lys19675Ile) c.54101A>T (p.Lys18034Ile) n.597-4412T>A n.3364+1870T>A c.58121A>T (p.Lys19374Ile) c.32015A>T (p.Lys10672Ile) c.31874A>T (p.Lys10625Ile) c.57917A>T (p.Lys19306Ile) c.53315A>T (p.Lys17772Ile) c.53312A>T (p.Lys17771Ile) c.50354A>T (p.Lys16785Ile) c.31970A>T (p.Lys10657Ile) c.53465A>T (p.Lys17822Ile) c.53462A>T (p.Lys17821Ile) c.52895A>T (p.Lys17632Ile) c.50237A>T (p.Lys16746Ile) c.50156A>T (p.Lys16719Ile) c.31919A>T (p.Lys10640Ile) c.21773A>T (p.Lys7258Ile) | |
2 | g.178593184T>C | CA349499835 | TTN,TTN-AS1 | c.51320A>G (p.Lys17107Arg) c.32405A>G (p.Lys10802Arg) c.32204A>G (p.Lys10735Arg) c.31829A>G (p.Lys10610Arg) c.59024A>G (p.Lys19675Arg) c.54101A>G (p.Lys18034Arg) n.597-4412T>C n.3364+1870T>C c.58121A>G (p.Lys19374Arg) c.32015A>G (p.Lys10672Arg) c.31874A>G (p.Lys10625Arg) c.57917A>G (p.Lys19306Arg) c.53315A>G (p.Lys17772Arg) c.53312A>G (p.Lys17771Arg) c.50354A>G (p.Lys16785Arg) c.31970A>G (p.Lys10657Arg) c.53465A>G (p.Lys17822Arg) c.53462A>G (p.Lys17821Arg) c.52895A>G (p.Lys17632Arg) c.50237A>G (p.Lys16746Arg) c.50156A>G (p.Lys16719Arg) c.31919A>G (p.Lys10640Arg) c.21773A>G (p.Lys7258Arg) | |
2 | g.178593184T>G | CA349499834 | TTN,TTN-AS1 | c.51320A>C (p.Lys17107Thr) c.32405A>C (p.Lys10802Thr) c.32204A>C (p.Lys10735Thr) c.31829A>C (p.Lys10610Thr) c.59024A>C (p.Lys19675Thr) c.54101A>C (p.Lys18034Thr) n.597-4412T>G n.3364+1870T>G c.58121A>C (p.Lys19374Thr) c.32015A>C (p.Lys10672Thr) c.31874A>C (p.Lys10625Thr) c.57917A>C (p.Lys19306Thr) c.53315A>C (p.Lys17772Thr) c.53312A>C (p.Lys17771Thr) c.50354A>C (p.Lys16785Thr) c.31970A>C (p.Lys10657Thr) c.53465A>C (p.Lys17822Thr) c.53462A>C (p.Lys17821Thr) c.52895A>C (p.Lys17632Thr) c.50237A>C (p.Lys16746Thr) c.50156A>C (p.Lys16719Thr) c.31919A>C (p.Lys10640Thr) c.21773A>C (p.Lys7258Thr) | |
2 | g.178593185T>A | CA349499836 | TTN,TTN-AS1 | c.51319A>T (p.Lys17107Ter) c.32404A>T (p.Lys10802Ter) c.32203A>T (p.Lys10735Ter) c.31828A>T (p.Lys10610Ter) c.59023A>T (p.Lys19675Ter) c.54100A>T (p.Lys18034Ter) n.597-4411T>A n.3364+1871T>A c.58120A>T (p.Lys19374Ter) c.32014A>T (p.Lys10672Ter) c.31873A>T (p.Lys10625Ter) c.57916A>T (p.Lys19306Ter) c.53314A>T (p.Lys17772Ter) c.53311A>T (p.Lys17771Ter) c.50353A>T (p.Lys16785Ter) c.31969A>T (p.Lys10657Ter) c.53464A>T (p.Lys17822Ter) c.53461A>T (p.Lys17821Ter) c.52894A>T (p.Lys17632Ter) c.50236A>T (p.Lys16746Ter) c.50155A>T (p.Lys16719Ter) c.31918A>T (p.Lys10640Ter) c.21772A>T (p.Lys7258Ter) | |
2 | g.178593185T>C | CA349499837 | TTN,TTN-AS1 | c.51319A>G (p.Lys17107Glu) c.32404A>G (p.Lys10802Glu) c.32203A>G (p.Lys10735Glu) c.31828A>G (p.Lys10610Glu) c.59023A>G (p.Lys19675Glu) c.54100A>G (p.Lys18034Glu) n.597-4411T>C n.3364+1871T>C c.58120A>G (p.Lys19374Glu) c.32014A>G (p.Lys10672Glu) c.31873A>G (p.Lys10625Glu) c.57916A>G (p.Lys19306Glu) c.53314A>G (p.Lys17772Glu) c.53311A>G (p.Lys17771Glu) c.50353A>G (p.Lys16785Glu) c.31969A>G (p.Lys10657Glu) c.53464A>G (p.Lys17822Glu) c.53461A>G (p.Lys17821Glu) c.52894A>G (p.Lys17632Glu) c.50236A>G (p.Lys16746Glu) c.50155A>G (p.Lys16719Glu) c.31918A>G (p.Lys10640Glu) c.21772A>G (p.Lys7258Glu) | |
2 | g.178593185T>G | CA349499838 | TTN,TTN-AS1 | c.51319A>C (p.Lys17107Gln) c.32404A>C (p.Lys10802Gln) c.32203A>C (p.Lys10735Gln) c.31828A>C (p.Lys10610Gln) c.59023A>C (p.Lys19675Gln) c.54100A>C (p.Lys18034Gln) n.597-4411T>G n.3364+1871T>G c.58120A>C (p.Lys19374Gln) c.32014A>C (p.Lys10672Gln) c.31873A>C (p.Lys10625Gln) c.57916A>C (p.Lys19306Gln) c.53314A>C (p.Lys17772Gln) c.53311A>C (p.Lys17771Gln) c.50353A>C (p.Lys16785Gln) c.31969A>C (p.Lys10657Gln) c.53464A>C (p.Lys17822Gln) c.53461A>C (p.Lys17821Gln) c.52894A>C (p.Lys17632Gln) c.50236A>C (p.Lys16746Gln) c.50155A>C (p.Lys16719Gln) c.31918A>C (p.Lys10640Gln) c.21772A>C (p.Lys7258Gln) | |
2 | g.178593186A>C | CA430267308 | TTN,TTN-AS1 | c.51318T>G (p.Ala17106=) c.32403T>G (p.Ala10801=) c.32202T>G (p.Ala10734=) c.31827T>G (p.Ala10609=) c.59022T>G (p.Ala19674=) c.54099T>G (p.Ala18033=) n.597-4410A>C n.3364+1872A>C c.58119T>G (p.Ala19373=) c.32013T>G (p.Ala10671=) c.31872T>G (p.Ala10624=) c.57915T>G (p.Ala19305=) c.53313T>G (p.Ala17771=) c.53310T>G (p.Ala17770=) c.50352T>G (p.Ala16784=) c.31968T>G (p.Ala10656=) c.53463T>G (p.Ala17821=) c.53460T>G (p.Ala17820=) c.52893T>G (p.Ala17631=) c.50235T>G (p.Ala16745=) c.50154T>G (p.Ala16718=) c.31917T>G (p.Ala10639=) c.21771T>G (p.Ala7257=) | |
2 | g.178593186A>G | CA430267309 | TTN,TTN-AS1 | c.51318T>C (p.Ala17106=) c.32403T>C (p.Ala10801=) c.32202T>C (p.Ala10734=) c.31827T>C (p.Ala10609=) c.59022T>C (p.Ala19674=) c.54099T>C (p.Ala18033=) n.597-4410A>G n.3364+1872A>G c.58119T>C (p.Ala19373=) c.32013T>C (p.Ala10671=) c.31872T>C (p.Ala10624=) c.57915T>C (p.Ala19305=) c.53313T>C (p.Ala17771=) c.53310T>C (p.Ala17770=) c.50352T>C (p.Ala16784=) c.31968T>C (p.Ala10656=) c.53463T>C (p.Ala17821=) c.53460T>C (p.Ala17820=) c.52893T>C (p.Ala17631=) c.50235T>C (p.Ala16745=) c.50154T>C (p.Ala16718=) c.31917T>C (p.Ala10639=) c.21771T>C (p.Ala7257=) | |
2 | g.178593186A>T | CA430267310 | TTN,TTN-AS1 | c.51318T>A (p.Ala17106=) c.32403T>A (p.Ala10801=) c.32202T>A (p.Ala10734=) c.31827T>A (p.Ala10609=) c.59022T>A (p.Ala19674=) c.54099T>A (p.Ala18033=) n.597-4410A>T n.3364+1872A>T c.58119T>A (p.Ala19373=) c.32013T>A (p.Ala10671=) c.31872T>A (p.Ala10624=) c.57915T>A (p.Ala19305=) c.53313T>A (p.Ala17771=) c.53310T>A (p.Ala17770=) c.50352T>A (p.Ala16784=) c.31968T>A (p.Ala10656=) c.53463T>A (p.Ala17821=) c.53460T>A (p.Ala17820=) c.52893T>A (p.Ala17631=) c.50235T>A (p.Ala16745=) c.50154T>A (p.Ala16718=) c.31917T>A (p.Ala10639=) c.21771T>A (p.Ala7257=) | |
2 | g.178593187G>A | CA349499841 | TTN,TTN-AS1 | c.51317C>T (p.Ala17106Val) c.32402C>T (p.Ala10801Val) c.32201C>T (p.Ala10734Val) c.31826C>T (p.Ala10609Val) c.59021C>T (p.Ala19674Val) c.54098C>T (p.Ala18033Val) n.597-4409G>A n.3364+1873G>A c.58118C>T (p.Ala19373Val) c.32012C>T (p.Ala10671Val) c.31871C>T (p.Ala10624Val) c.57914C>T (p.Ala19305Val) c.53312C>T (p.Ala17771Val) c.53309C>T (p.Ala17770Val) c.50351C>T (p.Ala16784Val) c.31967C>T (p.Ala10656Val) c.53462C>T (p.Ala17821Val) c.53459C>T (p.Ala17820Val) c.52892C>T (p.Ala17631Val) c.50234C>T (p.Ala16745Val) c.50153C>T (p.Ala16718Val) c.31916C>T (p.Ala10639Val) c.21770C>T (p.Ala7257Val) | |
2 | g.178593187G>C | CA349499845 | TTN,TTN-AS1 | c.51317C>G (p.Ala17106Gly) c.32402C>G (p.Ala10801Gly) c.32201C>G (p.Ala10734Gly) c.31826C>G (p.Ala10609Gly) c.59021C>G (p.Ala19674Gly) c.54098C>G (p.Ala18033Gly) n.597-4409G>C n.3364+1873G>C c.58118C>G (p.Ala19373Gly) c.32012C>G (p.Ala10671Gly) c.31871C>G (p.Ala10624Gly) c.57914C>G (p.Ala19305Gly) c.53312C>G (p.Ala17771Gly) c.53309C>G (p.Ala17770Gly) c.50351C>G (p.Ala16784Gly) c.31967C>G (p.Ala10656Gly) c.53462C>G (p.Ala17821Gly) c.53459C>G (p.Ala17820Gly) c.52892C>G (p.Ala17631Gly) c.50234C>G (p.Ala16745Gly) c.50153C>G (p.Ala16718Gly) c.31916C>G (p.Ala10639Gly) c.21770C>G (p.Ala7257Gly) | |
2 | g.178593187G= | CA1310540411 | TTN,TTN-AS1 | c.51317C= (p.Ala17106=) c.32402C= (p.Ala10801=) c.32201C= (p.Ala10734=) c.31826C= (p.Ala10609=) c.59021C= (p.Ala19674=) c.54098C= (p.Ala18033=) n.597-4409G= n.3364+1873G= c.58118C= (p.Ala19373=) c.32012C= (p.Ala10671=) c.31871C= (p.Ala10624=) c.57914C= (p.Ala19305=) c.53312C= (p.Ala17771=) c.53309C= (p.Ala17770=) c.50351C= (p.Ala16784=) c.31967C= (p.Ala10656=) c.53462C= (p.Ala17821=) c.53459C= (p.Ala17820=) c.52892C= (p.Ala17631=) c.50234C= (p.Ala16745=) c.50153C= (p.Ala16718=) c.31916C= (p.Ala10639=) c.21770C= (p.Ala7257=) | |
2 | g.178593187G>T | CA1992742 | TTN,TTN-AS1 | c.51317C>A (p.Ala17106Asp) c.32402C>A (p.Ala10801Asp) c.32201C>A (p.Ala10734Asp) c.31826C>A (p.Ala10609Asp) c.59021C>A (p.Ala19674Asp) c.54098C>A (p.Ala18033Asp) n.597-4409G>T n.3364+1873G>T c.58118C>A (p.Ala19373Asp) c.32012C>A (p.Ala10671Asp) c.31871C>A (p.Ala10624Asp) c.57914C>A (p.Ala19305Asp) c.53312C>A (p.Ala17771Asp) c.53309C>A (p.Ala17770Asp) c.50351C>A (p.Ala16784Asp) c.31967C>A (p.Ala10656Asp) c.53462C>A (p.Ala17821Asp) c.53459C>A (p.Ala17820Asp) c.52892C>A (p.Ala17631Asp) c.50234C>A (p.Ala16745Asp) c.50153C>A (p.Ala16718Asp) c.31916C>A (p.Ala10639Asp) c.21770C>A (p.Ala7257Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178593188C>A | CA349499848 | TTN,TTN-AS1 | c.51316G>T (p.Ala17106Ser) c.32401G>T (p.Ala10801Ser) c.32200G>T (p.Ala10734Ser) c.31825G>T (p.Ala10609Ser) c.59020G>T (p.Ala19674Ser) c.54097G>T (p.Ala18033Ser) n.597-4408C>A n.3364+1874C>A c.58117G>T (p.Ala19373Ser) c.32011G>T (p.Ala10671Ser) c.31870G>T (p.Ala10624Ser) c.57913G>T (p.Ala19305Ser) c.53311G>T (p.Ala17771Ser) c.53308G>T (p.Ala17770Ser) c.50350G>T (p.Ala16784Ser) c.31966G>T (p.Ala10656Ser) c.53461G>T (p.Ala17821Ser) c.53458G>T (p.Ala17820Ser) c.52891G>T (p.Ala17631Ser) c.50233G>T (p.Ala16745Ser) c.50152G>T (p.Ala16718Ser) c.31915G>T (p.Ala10639Ser) c.21769G>T (p.Ala7257Ser) | |
2 | g.178593188C>G | CA349499849 | TTN,TTN-AS1 | c.51316G>C (p.Ala17106Pro) c.32401G>C (p.Ala10801Pro) c.32200G>C (p.Ala10734Pro) c.31825G>C (p.Ala10609Pro) c.59020G>C (p.Ala19674Pro) c.54097G>C (p.Ala18033Pro) n.597-4408C>G n.3364+1874C>G c.58117G>C (p.Ala19373Pro) c.32011G>C (p.Ala10671Pro) c.31870G>C (p.Ala10624Pro) c.57913G>C (p.Ala19305Pro) c.53311G>C (p.Ala17771Pro) c.53308G>C (p.Ala17770Pro) c.50350G>C (p.Ala16784Pro) c.31966G>C (p.Ala10656Pro) c.53461G>C (p.Ala17821Pro) c.53458G>C (p.Ala17820Pro) c.52891G>C (p.Ala17631Pro) c.50233G>C (p.Ala16745Pro) c.50152G>C (p.Ala16718Pro) c.31915G>C (p.Ala10639Pro) c.21769G>C (p.Ala7257Pro) | |
2 | g.178593188C>T | CA349499851 | TTN,TTN-AS1 | c.51316G>A (p.Ala17106Thr) c.32401G>A (p.Ala10801Thr) c.32200G>A (p.Ala10734Thr) c.31825G>A (p.Ala10609Thr) c.59020G>A (p.Ala19674Thr) c.54097G>A (p.Ala18033Thr) n.597-4408C>T n.3364+1874C>T c.58117G>A (p.Ala19373Thr) c.32011G>A (p.Ala10671Thr) c.31870G>A (p.Ala10624Thr) c.57913G>A (p.Ala19305Thr) c.53311G>A (p.Ala17771Thr) c.53308G>A (p.Ala17770Thr) c.50350G>A (p.Ala16784Thr) c.31966G>A (p.Ala10656Thr) c.53461G>A (p.Ala17821Thr) c.53458G>A (p.Ala17820Thr) c.52891G>A (p.Ala17631Thr) c.50233G>A (p.Ala16745Thr) c.50152G>A (p.Ala16718Thr) c.31915G>A (p.Ala10639Thr) c.21769G>A (p.Ala7257Thr) | |
2 | g.178593189A>C | CA349499854 | TTN,TTN-AS1 | c.51315T>G (p.Phe17105Leu) c.32400T>G (p.Phe10800Leu) c.32199T>G (p.Phe10733Leu) c.31824T>G (p.Phe10608Leu) c.59019T>G (p.Phe19673Leu) c.54096T>G (p.Phe18032Leu) n.597-4407A>C n.3364+1875A>C c.58116T>G (p.Phe19372Leu) c.32010T>G (p.Phe10670Leu) c.31869T>G (p.Phe10623Leu) c.57912T>G (p.Phe19304Leu) c.53310T>G (p.Phe17770Leu) c.53307T>G (p.Phe17769Leu) c.50349T>G (p.Phe16783Leu) c.31965T>G (p.Phe10655Leu) c.53460T>G (p.Phe17820Leu) c.53457T>G (p.Phe17819Leu) c.52890T>G (p.Phe17630Leu) c.50232T>G (p.Phe16744Leu) c.50151T>G (p.Phe16717Leu) c.31914T>G (p.Phe10638Leu) c.21768T>G (p.Phe7256Leu) | |
2 | g.178593189A>G | CA430267316 | TTN,TTN-AS1 | c.51315T>C (p.Phe17105=) c.32400T>C (p.Phe10800=) c.32199T>C (p.Phe10733=) c.31824T>C (p.Phe10608=) c.59019T>C (p.Phe19673=) c.54096T>C (p.Phe18032=) n.597-4407A>G n.3364+1875A>G c.58116T>C (p.Phe19372=) c.32010T>C (p.Phe10670=) c.31869T>C (p.Phe10623=) c.57912T>C (p.Phe19304=) c.53310T>C (p.Phe17770=) c.53307T>C (p.Phe17769=) c.50349T>C (p.Phe16783=) c.31965T>C (p.Phe10655=) c.53460T>C (p.Phe17820=) c.53457T>C (p.Phe17819=) c.52890T>C (p.Phe17630=) c.50232T>C (p.Phe16744=) c.50151T>C (p.Phe16717=) c.31914T>C (p.Phe10638=) c.21768T>C (p.Phe7256=) | |
2 | g.178593189A>T | CA349499858 | TTN,TTN-AS1 | c.51315T>A (p.Phe17105Leu) c.32400T>A (p.Phe10800Leu) c.32199T>A (p.Phe10733Leu) c.31824T>A (p.Phe10608Leu) c.59019T>A (p.Phe19673Leu) c.54096T>A (p.Phe18032Leu) n.597-4407A>T n.3364+1875A>T c.58116T>A (p.Phe19372Leu) c.32010T>A (p.Phe10670Leu) c.31869T>A (p.Phe10623Leu) c.57912T>A (p.Phe19304Leu) c.53310T>A (p.Phe17770Leu) c.53307T>A (p.Phe17769Leu) c.50349T>A (p.Phe16783Leu) c.31965T>A (p.Phe10655Leu) c.53460T>A (p.Phe17820Leu) c.53457T>A (p.Phe17819Leu) c.52890T>A (p.Phe17630Leu) c.50232T>A (p.Phe16744Leu) c.50151T>A (p.Phe16717Leu) c.31914T>A (p.Phe10638Leu) c.21768T>A (p.Phe7256Leu) | |
2 | g.178593190A>C | CA349499862 | TTN,TTN-AS1 | c.51314T>G (p.Phe17105Cys) c.32399T>G (p.Phe10800Cys) c.32198T>G (p.Phe10733Cys) c.31823T>G (p.Phe10608Cys) c.59018T>G (p.Phe19673Cys) c.54095T>G (p.Phe18032Cys) n.597-4406A>C n.3364+1876A>C c.58115T>G (p.Phe19372Cys) c.32009T>G (p.Phe10670Cys) c.31868T>G (p.Phe10623Cys) c.57911T>G (p.Phe19304Cys) c.53309T>G (p.Phe17770Cys) c.53306T>G (p.Phe17769Cys) c.50348T>G (p.Phe16783Cys) c.31964T>G (p.Phe10655Cys) c.53459T>G (p.Phe17820Cys) c.53456T>G (p.Phe17819Cys) c.52889T>G (p.Phe17630Cys) c.50231T>G (p.Phe16744Cys) c.50150T>G (p.Phe16717Cys) c.31913T>G (p.Phe10638Cys) c.21767T>G (p.Phe7256Cys) | |
2 | g.178593190A>G | CA349499871 | TTN,TTN-AS1 | c.51314T>C (p.Phe17105Ser) c.32399T>C (p.Phe10800Ser) c.32198T>C (p.Phe10733Ser) c.31823T>C (p.Phe10608Ser) c.59018T>C (p.Phe19673Ser) c.54095T>C (p.Phe18032Ser) n.597-4406A>G n.3364+1876A>G c.58115T>C (p.Phe19372Ser) c.32009T>C (p.Phe10670Ser) c.31868T>C (p.Phe10623Ser) c.57911T>C (p.Phe19304Ser) c.53309T>C (p.Phe17770Ser) c.53306T>C (p.Phe17769Ser) c.50348T>C (p.Phe16783Ser) c.31964T>C (p.Phe10655Ser) c.53459T>C (p.Phe17820Ser) c.53456T>C (p.Phe17819Ser) c.52889T>C (p.Phe17630Ser) c.50231T>C (p.Phe16744Ser) c.50150T>C (p.Phe16717Ser) c.31913T>C (p.Phe10638Ser) c.21767T>C (p.Phe7256Ser) | |
2 | g.178593190A>T | CA349499869 | TTN,TTN-AS1 | c.51314T>A (p.Phe17105Tyr) c.32399T>A (p.Phe10800Tyr) c.32198T>A (p.Phe10733Tyr) c.31823T>A (p.Phe10608Tyr) c.59018T>A (p.Phe19673Tyr) c.54095T>A (p.Phe18032Tyr) n.597-4406A>T n.3364+1876A>T c.58115T>A (p.Phe19372Tyr) c.32009T>A (p.Phe10670Tyr) c.31868T>A (p.Phe10623Tyr) c.57911T>A (p.Phe19304Tyr) c.53309T>A (p.Phe17770Tyr) c.53306T>A (p.Phe17769Tyr) c.50348T>A (p.Phe16783Tyr) c.31964T>A (p.Phe10655Tyr) c.53459T>A (p.Phe17820Tyr) c.53456T>A (p.Phe17819Tyr) c.52889T>A (p.Phe17630Tyr) c.50231T>A (p.Phe16744Tyr) c.50150T>A (p.Phe16717Tyr) c.31913T>A (p.Phe10638Tyr) c.21767T>A (p.Phe7256Tyr) | |
2 | g.178593191A>C | CA349499880 | TTN,TTN-AS1 | c.51313T>G (p.Phe17105Val) c.32398T>G (p.Phe10800Val) c.32197T>G (p.Phe10733Val) c.31822T>G (p.Phe10608Val) c.59017T>G (p.Phe19673Val) c.54094T>G (p.Phe18032Val) n.597-4405A>C n.3364+1877A>C c.58114T>G (p.Phe19372Val) c.32008T>G (p.Phe10670Val) c.31867T>G (p.Phe10623Val) c.57910T>G (p.Phe19304Val) c.53308T>G (p.Phe17770Val) c.53305T>G (p.Phe17769Val) c.50347T>G (p.Phe16783Val) c.31963T>G (p.Phe10655Val) c.53458T>G (p.Phe17820Val) c.53455T>G (p.Phe17819Val) c.52888T>G (p.Phe17630Val) c.50230T>G (p.Phe16744Val) c.50149T>G (p.Phe16717Val) c.31912T>G (p.Phe10638Val) c.21766T>G (p.Phe7256Val) | |
2 | g.178593191A>G | CA349499884 | TTN,TTN-AS1 | c.51313T>C (p.Phe17105Leu) c.32398T>C (p.Phe10800Leu) c.32197T>C (p.Phe10733Leu) c.31822T>C (p.Phe10608Leu) c.59017T>C (p.Phe19673Leu) c.54094T>C (p.Phe18032Leu) n.597-4405A>G n.3364+1877A>G c.58114T>C (p.Phe19372Leu) c.32008T>C (p.Phe10670Leu) c.31867T>C (p.Phe10623Leu) c.57910T>C (p.Phe19304Leu) c.53308T>C (p.Phe17770Leu) c.53305T>C (p.Phe17769Leu) c.50347T>C (p.Phe16783Leu) c.31963T>C (p.Phe10655Leu) c.53458T>C (p.Phe17820Leu) c.53455T>C (p.Phe17819Leu) c.52888T>C (p.Phe17630Leu) c.50230T>C (p.Phe16744Leu) c.50149T>C (p.Phe16717Leu) c.31912T>C (p.Phe10638Leu) c.21766T>C (p.Phe7256Leu) | |
2 | g.178593191A>T | CA349499891 | TTN,TTN-AS1 | c.51313T>A (p.Phe17105Ile) c.32398T>A (p.Phe10800Ile) c.32197T>A (p.Phe10733Ile) c.31822T>A (p.Phe10608Ile) c.59017T>A (p.Phe19673Ile) c.54094T>A (p.Phe18032Ile) n.597-4405A>T n.3364+1877A>T c.58114T>A (p.Phe19372Ile) c.32008T>A (p.Phe10670Ile) c.31867T>A (p.Phe10623Ile) c.57910T>A (p.Phe19304Ile) c.53308T>A (p.Phe17770Ile) c.53305T>A (p.Phe17769Ile) c.50347T>A (p.Phe16783Ile) c.31963T>A (p.Phe10655Ile) c.53458T>A (p.Phe17820Ile) c.53455T>A (p.Phe17819Ile) c.52888T>A (p.Phe17630Ile) c.50230T>A (p.Phe16744Ile) c.50149T>A (p.Phe16717Ile) c.31912T>A (p.Phe10638Ile) c.21766T>A (p.Phe7256Ile) | |
2 | g.178593192G>A | CA430267321 | TTN,TTN-AS1 | c.51312C>T (p.Val17104=) c.32397C>T (p.Val10799=) c.32196C>T (p.Val10732=) c.31821C>T (p.Val10607=) c.59016C>T (p.Val19672=) c.54093C>T (p.Val18031=) n.597-4404G>A n.3364+1878G>A c.58113C>T (p.Val19371=) c.32007C>T (p.Val10669=) c.31866C>T (p.Val10622=) c.57909C>T (p.Val19303=) c.53307C>T (p.Val17769=) c.53304C>T (p.Val17768=) c.50346C>T (p.Val16782=) c.31962C>T (p.Val10654=) c.53457C>T (p.Val17819=) c.53454C>T (p.Val17818=) c.52887C>T (p.Val17629=) c.50229C>T (p.Val16743=) c.50148C>T (p.Val16716=) c.31911C>T (p.Val10637=) c.21765C>T (p.Val7255=) | |
2 | g.178593192G>C | CA430267324 | TTN,TTN-AS1 | c.51312C>G (p.Val17104=) c.32397C>G (p.Val10799=) c.32196C>G (p.Val10732=) c.31821C>G (p.Val10607=) c.59016C>G (p.Val19672=) c.54093C>G (p.Val18031=) n.597-4404G>C n.3364+1878G>C c.58113C>G (p.Val19371=) c.32007C>G (p.Val10669=) c.31866C>G (p.Val10622=) c.57909C>G (p.Val19303=) c.53307C>G (p.Val17769=) c.53304C>G (p.Val17768=) c.50346C>G (p.Val16782=) c.31962C>G (p.Val10654=) c.53457C>G (p.Val17819=) c.53454C>G (p.Val17818=) c.52887C>G (p.Val17629=) c.50229C>G (p.Val16743=) c.50148C>G (p.Val16716=) c.31911C>G (p.Val10637=) c.21765C>G (p.Val7255=) | |
2 | g.178593192G>T | CA430267323 | TTN,TTN-AS1 | c.51312C>A (p.Val17104=) c.32397C>A (p.Val10799=) c.32196C>A (p.Val10732=) c.31821C>A (p.Val10607=) c.59016C>A (p.Val19672=) c.54093C>A (p.Val18031=) n.597-4404G>T n.3364+1878G>T c.58113C>A (p.Val19371=) c.32007C>A (p.Val10669=) c.31866C>A (p.Val10622=) c.57909C>A (p.Val19303=) c.53307C>A (p.Val17769=) c.53304C>A (p.Val17768=) c.50346C>A (p.Val16782=) c.31962C>A (p.Val10654=) c.53457C>A (p.Val17819=) c.53454C>A (p.Val17818=) c.52887C>A (p.Val17629=) c.50229C>A (p.Val16743=) c.50148C>A (p.Val16716=) c.31911C>A (p.Val10637=) c.21765C>A (p.Val7255=) | |
2 | g.178593193A= | CA1310540412 | TTN,TTN-AS1 | c.51311T= (p.Val17104=) c.32396T= (p.Val10799=) c.32195T= (p.Val10732=) c.31820T= (p.Val10607=) c.59015T= (p.Val19672=) c.54092T= (p.Val18031=) n.597-4403A= n.3364+1879A= c.58112T= (p.Val19371=) c.32006T= (p.Val10669=) c.31865T= (p.Val10622=) c.57908T= (p.Val19303=) c.53306T= (p.Val17769=) c.53303T= (p.Val17768=) c.50345T= (p.Val16782=) c.31961T= (p.Val10654=) c.53456T= (p.Val17819=) c.53453T= (p.Val17818=) c.52886T= (p.Val17629=) c.50228T= (p.Val16743=) c.50147T= (p.Val16716=) c.31910T= (p.Val10637=) c.21764T= (p.Val7255=) | |
2 | g.178593193A>C | CA349499905 | TTN,TTN-AS1 | c.51311T>G (p.Val17104Gly) c.32396T>G (p.Val10799Gly) c.32195T>G (p.Val10732Gly) c.31820T>G (p.Val10607Gly) c.59015T>G (p.Val19672Gly) c.54092T>G (p.Val18031Gly) n.597-4403A>C n.3364+1879A>C c.58112T>G (p.Val19371Gly) c.32006T>G (p.Val10669Gly) c.31865T>G (p.Val10622Gly) c.57908T>G (p.Val19303Gly) c.53306T>G (p.Val17769Gly) c.53303T>G (p.Val17768Gly) c.50345T>G (p.Val16782Gly) c.31961T>G (p.Val10654Gly) c.53456T>G (p.Val17819Gly) c.53453T>G (p.Val17818Gly) c.52886T>G (p.Val17629Gly) c.50228T>G (p.Val16743Gly) c.50147T>G (p.Val16716Gly) c.31910T>G (p.Val10637Gly) c.21764T>G (p.Val7255Gly) | |
2 | g.178593193A>G | CA349499929 | TTN,TTN-AS1 | c.51311T>C (p.Val17104Ala) c.32396T>C (p.Val10799Ala) c.32195T>C (p.Val10732Ala) c.31820T>C (p.Val10607Ala) c.59015T>C (p.Val19672Ala) c.54092T>C (p.Val18031Ala) n.597-4403A>G n.3364+1879A>G c.58112T>C (p.Val19371Ala) c.32006T>C (p.Val10669Ala) c.31865T>C (p.Val10622Ala) c.57908T>C (p.Val19303Ala) c.53306T>C (p.Val17769Ala) c.53303T>C (p.Val17768Ala) c.50345T>C (p.Val16782Ala) c.31961T>C (p.Val10654Ala) c.53456T>C (p.Val17819Ala) c.53453T>C (p.Val17818Ala) c.52886T>C (p.Val17629Ala) c.50228T>C (p.Val16743Ala) c.50147T>C (p.Val16716Ala) c.31910T>C (p.Val10637Ala) c.21764T>C (p.Val7255Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178593193A>T | CA349499932 | TTN,TTN-AS1 | c.51311T>A (p.Val17104Asp) c.32396T>A (p.Val10799Asp) c.32195T>A (p.Val10732Asp) c.31820T>A (p.Val10607Asp) c.59015T>A (p.Val19672Asp) c.54092T>A (p.Val18031Asp) n.597-4403A>T n.3364+1879A>T c.58112T>A (p.Val19371Asp) c.32006T>A (p.Val10669Asp) c.31865T>A (p.Val10622Asp) c.57908T>A (p.Val19303Asp) c.53306T>A (p.Val17769Asp) c.53303T>A (p.Val17768Asp) c.50345T>A (p.Val16782Asp) c.31961T>A (p.Val10654Asp) c.53456T>A (p.Val17819Asp) c.53453T>A (p.Val17818Asp) c.52886T>A (p.Val17629Asp) c.50228T>A (p.Val16743Asp) c.50147T>A (p.Val16716Asp) c.31910T>A (p.Val10637Asp) c.21764T>A (p.Val7255Asp) | gnomAD v4 |
2 | g.178593194C>A | CA349499941 | TTN,TTN-AS1 | c.51310G>T (p.Val17104Phe) c.32395G>T (p.Val10799Phe) c.32194G>T (p.Val10732Phe) c.31819G>T (p.Val10607Phe) c.59014G>T (p.Val19672Phe) c.54091G>T (p.Val18031Phe) n.597-4402C>A n.3364+1880C>A c.58111G>T (p.Val19371Phe) c.32005G>T (p.Val10669Phe) c.31864G>T (p.Val10622Phe) c.57907G>T (p.Val19303Phe) c.53305G>T (p.Val17769Phe) c.53302G>T (p.Val17768Phe) c.50344G>T (p.Val16782Phe) c.31960G>T (p.Val10654Phe) c.53455G>T (p.Val17819Phe) c.53452G>T (p.Val17818Phe) c.52885G>T (p.Val17629Phe) c.50227G>T (p.Val16743Phe) c.50146G>T (p.Val16716Phe) c.31909G>T (p.Val10637Phe) c.21763G>T (p.Val7255Phe) | |
2 | g.178593194C>G | CA349499944 | TTN,TTN-AS1 | c.51310G>C (p.Val17104Leu) c.32395G>C (p.Val10799Leu) c.32194G>C (p.Val10732Leu) c.31819G>C (p.Val10607Leu) c.59014G>C (p.Val19672Leu) c.54091G>C (p.Val18031Leu) n.597-4402C>G n.3364+1880C>G c.58111G>C (p.Val19371Leu) c.32005G>C (p.Val10669Leu) c.31864G>C (p.Val10622Leu) c.57907G>C (p.Val19303Leu) c.53305G>C (p.Val17769Leu) c.53302G>C (p.Val17768Leu) c.50344G>C (p.Val16782Leu) c.31960G>C (p.Val10654Leu) c.53455G>C (p.Val17819Leu) c.53452G>C (p.Val17818Leu) c.52885G>C (p.Val17629Leu) c.50227G>C (p.Val16743Leu) c.50146G>C (p.Val16716Leu) c.31909G>C (p.Val10637Leu) c.21763G>C (p.Val7255Leu) | |
2 | g.178593194C>T | CA349499950 | TTN,TTN-AS1 | c.51310G>A (p.Val17104Ile) c.32395G>A (p.Val10799Ile) c.32194G>A (p.Val10732Ile) c.31819G>A (p.Val10607Ile) c.59014G>A (p.Val19672Ile) c.54091G>A (p.Val18031Ile) n.597-4402C>T n.3364+1880C>T c.58111G>A (p.Val19371Ile) c.32005G>A (p.Val10669Ile) c.31864G>A (p.Val10622Ile) c.57907G>A (p.Val19303Ile) c.53305G>A (p.Val17769Ile) c.53302G>A (p.Val17768Ile) c.50344G>A (p.Val16782Ile) c.31960G>A (p.Val10654Ile) c.53455G>A (p.Val17819Ile) c.53452G>A (p.Val17818Ile) c.52885G>A (p.Val17629Ile) c.50227G>A (p.Val16743Ile) c.50146G>A (p.Val16716Ile) c.31909G>A (p.Val10637Ile) c.21763G>A (p.Val7255Ile) | |
2 | g.178593195T>A | CA430267329 | TTN,TTN-AS1 | c.51309A>T (p.Pro17103=) c.32394A>T (p.Pro10798=) c.32193A>T (p.Pro10731=) c.31818A>T (p.Pro10606=) c.59013A>T (p.Pro19671=) c.54090A>T (p.Pro18030=) n.597-4401T>A n.3364+1881T>A c.58110A>T (p.Pro19370=) c.32004A>T (p.Pro10668=) c.31863A>T (p.Pro10621=) c.57906A>T (p.Pro19302=) c.53304A>T (p.Pro17768=) c.53301A>T (p.Pro17767=) c.50343A>T (p.Pro16781=) c.31959A>T (p.Pro10653=) c.53454A>T (p.Pro17818=) c.53451A>T (p.Pro17817=) c.52884A>T (p.Pro17628=) c.50226A>T (p.Pro16742=) c.50145A>T (p.Pro16715=) c.31908A>T (p.Pro10636=) c.21762A>T (p.Pro7254=) | |
2 | g.178593195T>C | CA430267330 | TTN,TTN-AS1 | c.51309A>G (p.Pro17103=) c.32394A>G (p.Pro10798=) c.32193A>G (p.Pro10731=) c.31818A>G (p.Pro10606=) c.59013A>G (p.Pro19671=) c.54090A>G (p.Pro18030=) n.597-4401T>C n.3364+1881T>C c.58110A>G (p.Pro19370=) c.32004A>G (p.Pro10668=) c.31863A>G (p.Pro10621=) c.57906A>G (p.Pro19302=) c.53304A>G (p.Pro17768=) c.53301A>G (p.Pro17767=) c.50343A>G (p.Pro16781=) c.31959A>G (p.Pro10653=) c.53454A>G (p.Pro17818=) c.53451A>G (p.Pro17817=) c.52884A>G (p.Pro17628=) c.50226A>G (p.Pro16742=) c.50145A>G (p.Pro16715=) c.31908A>G (p.Pro10636=) c.21762A>G (p.Pro7254=) | |
2 | g.178593195T>G | CA430267331 | TTN,TTN-AS1 | c.51309A>C (p.Pro17103=) c.32394A>C (p.Pro10798=) c.32193A>C (p.Pro10731=) c.31818A>C (p.Pro10606=) c.59013A>C (p.Pro19671=) c.54090A>C (p.Pro18030=) n.597-4401T>G n.3364+1881T>G c.58110A>C (p.Pro19370=) c.32004A>C (p.Pro10668=) c.31863A>C (p.Pro10621=) c.57906A>C (p.Pro19302=) c.53304A>C (p.Pro17768=) c.53301A>C (p.Pro17767=) c.50343A>C (p.Pro16781=) c.31959A>C (p.Pro10653=) c.53454A>C (p.Pro17818=) c.53451A>C (p.Pro17817=) c.52884A>C (p.Pro17628=) c.50226A>C (p.Pro16742=) c.50145A>C (p.Pro16715=) c.31908A>C (p.Pro10636=) c.21762A>C (p.Pro7254=) | |
2 | g.178593196G>A | CA349499956 | TTN,TTN-AS1 | c.51308C>T (p.Pro17103Leu) c.32393C>T (p.Pro10798Leu) c.32192C>T (p.Pro10731Leu) c.31817C>T (p.Pro10606Leu) c.59012C>T (p.Pro19671Leu) c.54089C>T (p.Pro18030Leu) n.597-4400G>A n.3364+1882G>A c.58109C>T (p.Pro19370Leu) c.32003C>T (p.Pro10668Leu) c.31862C>T (p.Pro10621Leu) c.57905C>T (p.Pro19302Leu) c.53303C>T (p.Pro17768Leu) c.53300C>T (p.Pro17767Leu) c.50342C>T (p.Pro16781Leu) c.31958C>T (p.Pro10653Leu) c.53453C>T (p.Pro17818Leu) c.53450C>T (p.Pro17817Leu) c.52883C>T (p.Pro17628Leu) c.50225C>T (p.Pro16742Leu) c.50144C>T (p.Pro16715Leu) c.31907C>T (p.Pro10636Leu) c.21761C>T (p.Pro7254Leu) | |
2 | g.178593196G>C | CA349499959 | TTN,TTN-AS1 | c.51308C>G (p.Pro17103Arg) c.32393C>G (p.Pro10798Arg) c.32192C>G (p.Pro10731Arg) c.31817C>G (p.Pro10606Arg) c.59012C>G (p.Pro19671Arg) c.54089C>G (p.Pro18030Arg) n.597-4400G>C n.3364+1882G>C c.58109C>G (p.Pro19370Arg) c.32003C>G (p.Pro10668Arg) c.31862C>G (p.Pro10621Arg) c.57905C>G (p.Pro19302Arg) c.53303C>G (p.Pro17768Arg) c.53300C>G (p.Pro17767Arg) c.50342C>G (p.Pro16781Arg) c.31958C>G (p.Pro10653Arg) c.53453C>G (p.Pro17818Arg) c.53450C>G (p.Pro17817Arg) c.52883C>G (p.Pro17628Arg) c.50225C>G (p.Pro16742Arg) c.50144C>G (p.Pro16715Arg) c.31907C>G (p.Pro10636Arg) c.21761C>G (p.Pro7254Arg) | |
2 | g.178593196G>T | CA349499952 | TTN,TTN-AS1 | c.51308C>A (p.Pro17103Gln) c.32393C>A (p.Pro10798Gln) c.32192C>A (p.Pro10731Gln) c.31817C>A (p.Pro10606Gln) c.59012C>A (p.Pro19671Gln) c.54089C>A (p.Pro18030Gln) n.597-4400G>T n.3364+1882G>T c.58109C>A (p.Pro19370Gln) c.32003C>A (p.Pro10668Gln) c.31862C>A (p.Pro10621Gln) c.57905C>A (p.Pro19302Gln) c.53303C>A (p.Pro17768Gln) c.53300C>A (p.Pro17767Gln) c.50342C>A (p.Pro16781Gln) c.31958C>A (p.Pro10653Gln) c.53453C>A (p.Pro17818Gln) c.53450C>A (p.Pro17817Gln) c.52883C>A (p.Pro17628Gln) c.50225C>A (p.Pro16742Gln) c.50144C>A (p.Pro16715Gln) c.31907C>A (p.Pro10636Gln) c.21761C>A (p.Pro7254Gln) | |
2 | g.178593197G>A | CA349499964 | TTN,TTN-AS1 | c.51307C>T (p.Pro17103Ser) c.32392C>T (p.Pro10798Ser) c.32191C>T (p.Pro10731Ser) c.31816C>T (p.Pro10606Ser) c.59011C>T (p.Pro19671Ser) c.54088C>T (p.Pro18030Ser) n.597-4399G>A n.3364+1883G>A c.58108C>T (p.Pro19370Ser) c.32002C>T (p.Pro10668Ser) c.31861C>T (p.Pro10621Ser) c.57904C>T (p.Pro19302Ser) c.53302C>T (p.Pro17768Ser) c.53299C>T (p.Pro17767Ser) c.50341C>T (p.Pro16781Ser) c.31957C>T (p.Pro10653Ser) c.53452C>T (p.Pro17818Ser) c.53449C>T (p.Pro17817Ser) c.52882C>T (p.Pro17628Ser) c.50224C>T (p.Pro16742Ser) c.50143C>T (p.Pro16715Ser) c.31906C>T (p.Pro10636Ser) c.21760C>T (p.Pro7254Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178593197G>C | CA349499967 | TTN,TTN-AS1 | c.51307C>G (p.Pro17103Ala) c.32392C>G (p.Pro10798Ala) c.32191C>G (p.Pro10731Ala) c.31816C>G (p.Pro10606Ala) c.59011C>G (p.Pro19671Ala) c.54088C>G (p.Pro18030Ala) n.597-4399G>C n.3364+1883G>C c.58108C>G (p.Pro19370Ala) c.32002C>G (p.Pro10668Ala) c.31861C>G (p.Pro10621Ala) c.57904C>G (p.Pro19302Ala) c.53302C>G (p.Pro17768Ala) c.53299C>G (p.Pro17767Ala) c.50341C>G (p.Pro16781Ala) c.31957C>G (p.Pro10653Ala) c.53452C>G (p.Pro17818Ala) c.53449C>G (p.Pro17817Ala) c.52882C>G (p.Pro17628Ala) c.50224C>G (p.Pro16742Ala) c.50143C>G (p.Pro16715Ala) c.31906C>G (p.Pro10636Ala) c.21760C>G (p.Pro7254Ala) | dbSNP gnomAD v4 |
2 | g.178593197G= | CA1310540414 | TTN,TTN-AS1 | c.51307C= (p.Pro17103=) c.32392C= (p.Pro10798=) c.32191C= (p.Pro10731=) c.31816C= (p.Pro10606=) c.59011C= (p.Pro19671=) c.54088C= (p.Pro18030=) n.597-4399G= n.3364+1883G= c.58108C= (p.Pro19370=) c.32002C= (p.Pro10668=) c.31861C= (p.Pro10621=) c.57904C= (p.Pro19302=) c.53302C= (p.Pro17768=) c.53299C= (p.Pro17767=) c.50341C= (p.Pro16781=) c.31957C= (p.Pro10653=) c.53452C= (p.Pro17818=) c.53449C= (p.Pro17817=) c.52882C= (p.Pro17628=) c.50224C= (p.Pro16742=) c.50143C= (p.Pro16715=) c.31906C= (p.Pro10636=) c.21760C= (p.Pro7254=) | |
2 | g.178593197G>T | CA349499969 | TTN,TTN-AS1 | c.51307C>A (p.Pro17103Thr) c.32392C>A (p.Pro10798Thr) c.32191C>A (p.Pro10731Thr) c.31816C>A (p.Pro10606Thr) c.59011C>A (p.Pro19671Thr) c.54088C>A (p.Pro18030Thr) n.597-4399G>T n.3364+1883G>T c.58108C>A (p.Pro19370Thr) c.32002C>A (p.Pro10668Thr) c.31861C>A (p.Pro10621Thr) c.57904C>A (p.Pro19302Thr) c.53302C>A (p.Pro17768Thr) c.53299C>A (p.Pro17767Thr) c.50341C>A (p.Pro16781Thr) c.31957C>A (p.Pro10653Thr) c.53452C>A (p.Pro17818Thr) c.53449C>A (p.Pro17817Thr) c.52882C>A (p.Pro17628Thr) c.50224C>A (p.Pro16742Thr) c.50143C>A (p.Pro16715Thr) c.31906C>A (p.Pro10636Thr) c.21760C>A (p.Pro7254Thr) | |
2 | g.178593198T>A | CA349499974 | TTN,TTN-AS1 | c.51306A>T (p.Lys17102Asn) c.32391A>T (p.Lys10797Asn) c.32190A>T (p.Lys10730Asn) c.31815A>T (p.Lys10605Asn) c.59010A>T (p.Lys19670Asn) c.54087A>T (p.Lys18029Asn) n.597-4398T>A n.3364+1884T>A c.58107A>T (p.Lys19369Asn) c.32001A>T (p.Lys10667Asn) c.31860A>T (p.Lys10620Asn) c.57903A>T (p.Lys19301Asn) c.53301A>T (p.Lys17767Asn) c.53298A>T (p.Lys17766Asn) c.50340A>T (p.Lys16780Asn) c.31956A>T (p.Lys10652Asn) c.53451A>T (p.Lys17817Asn) c.53448A>T (p.Lys17816Asn) c.52881A>T (p.Lys17627Asn) c.50223A>T (p.Lys16741Asn) c.50142A>T (p.Lys16714Asn) c.31905A>T (p.Lys10635Asn) c.21759A>T (p.Lys7253Asn) | dbSNP gnomAD v4 |
2 | g.178593198T>C | CA430267337 | TTN,TTN-AS1 | c.51306A>G (p.Lys17102=) c.32391A>G (p.Lys10797=) c.32190A>G (p.Lys10730=) c.31815A>G (p.Lys10605=) c.59010A>G (p.Lys19670=) c.54087A>G (p.Lys18029=) n.597-4398T>C n.3364+1884T>C c.58107A>G (p.Lys19369=) c.32001A>G (p.Lys10667=) c.31860A>G (p.Lys10620=) c.57903A>G (p.Lys19301=) c.53301A>G (p.Lys17767=) c.53298A>G (p.Lys17766=) c.50340A>G (p.Lys16780=) c.31956A>G (p.Lys10652=) c.53451A>G (p.Lys17817=) c.53448A>G (p.Lys17816=) c.52881A>G (p.Lys17627=) c.50223A>G (p.Lys16741=) c.50142A>G (p.Lys16714=) c.31905A>G (p.Lys10635=) c.21759A>G (p.Lys7253=) | |
2 | g.178593198T>G | CA349499978 | TTN,TTN-AS1 | c.51306A>C (p.Lys17102Asn) c.32391A>C (p.Lys10797Asn) c.32190A>C (p.Lys10730Asn) c.31815A>C (p.Lys10605Asn) c.59010A>C (p.Lys19670Asn) c.54087A>C (p.Lys18029Asn) n.597-4398T>G n.3364+1884T>G c.58107A>C (p.Lys19369Asn) c.32001A>C (p.Lys10667Asn) c.31860A>C (p.Lys10620Asn) c.57903A>C (p.Lys19301Asn) c.53301A>C (p.Lys17767Asn) c.53298A>C (p.Lys17766Asn) c.50340A>C (p.Lys16780Asn) c.31956A>C (p.Lys10652Asn) c.53451A>C (p.Lys17817Asn) c.53448A>C (p.Lys17816Asn) c.52881A>C (p.Lys17627Asn) c.50223A>C (p.Lys16741Asn) c.50142A>C (p.Lys16714Asn) c.31905A>C (p.Lys10635Asn) c.21759A>C (p.Lys7253Asn) | |
2 | g.178593198T= | CA1310540416 | TTN,TTN-AS1 | c.51306A= (p.Lys17102=) c.32391A= (p.Lys10797=) c.32190A= (p.Lys10730=) c.31815A= (p.Lys10605=) c.59010A= (p.Lys19670=) c.54087A= (p.Lys18029=) n.597-4398T= n.3364+1884T= c.58107A= (p.Lys19369=) c.32001A= (p.Lys10667=) c.31860A= (p.Lys10620=) c.57903A= (p.Lys19301=) c.53301A= (p.Lys17767=) c.53298A= (p.Lys17766=) c.50340A= (p.Lys16780=) c.31956A= (p.Lys10652=) c.53451A= (p.Lys17817=) c.53448A= (p.Lys17816=) c.52881A= (p.Lys17627=) c.50223A= (p.Lys16741=) c.50142A= (p.Lys16714=) c.31905A= (p.Lys10635=) c.21759A= (p.Lys7253=) | |
2 | g.178593198_178593211delinsTTTGGATGGTGGGC | CA1310540418 | TTN,TTN-AS1 | c.51293_51306delinsGCCCACCATCCAAA (p.Ser17098=) c.32378_32391delinsGCCCACCATCCAAA (p.Ser10793=) c.32177_32190delinsGCCCACCATCCAAA (p.Ser10726=) c.31802_31815delinsGCCCACCATCCAAA (p.Ser10601=) c.58997_59010delinsGCCCACCATCCAAA (p.Ser19666=) c.54074_54087delinsGCCCACCATCCAAA (p.Ser18025=) n.597-4398_597-4385delinsTTTGGATGGTGGGC n.3364+1884_3364+1897delinsTTTGGATGGTGGGC c.58094_58107delinsGCCCACCATCCAAA (p.Ser19365=) c.31988_32001delinsGCCCACCATCCAAA (p.Ser10663=) c.31847_31860delinsGCCCACCATCCAAA (p.Ser10616=) c.57890_57903delinsGCCCACCATCCAAA (p.Ser19297=) c.53288_53301delinsGCCCACCATCCAAA (p.Ser17763=) c.53285_53298delinsGCCCACCATCCAAA (p.Ser17762=) c.50327_50340delinsGCCCACCATCCAAA (p.Ser16776=) c.31943_31956delinsGCCCACCATCCAAA (p.Ser10648=) c.53438_53451delinsGCCCACCATCCAAA (p.Ser17813=) c.53435_53448delinsGCCCACCATCCAAA (p.Ser17812=) c.52868_52881delinsGCCCACCATCCAAA (p.Ser17623=) c.50210_50223delinsGCCCACCATCCAAA (p.Ser16737=) c.50129_50142delinsGCCCACCATCCAAA (p.Ser16710=) c.31892_31905delinsGCCCACCATCCAAA (p.Ser10631=) c.21746_21759delinsGCCCACCATCCAAA (p.Ser7249=) | |
2 | g.178593199T>A | CA349499982 | TTN,TTN-AS1 | c.51305A>T (p.Lys17102Ile) c.32390A>T (p.Lys10797Ile) c.32189A>T (p.Lys10730Ile) c.31814A>T (p.Lys10605Ile) c.59009A>T (p.Lys19670Ile) c.54086A>T (p.Lys18029Ile) n.597-4397T>A n.3364+1885T>A c.58106A>T (p.Lys19369Ile) c.32000A>T (p.Lys10667Ile) c.31859A>T (p.Lys10620Ile) c.57902A>T (p.Lys19301Ile) c.53300A>T (p.Lys17767Ile) c.53297A>T (p.Lys17766Ile) c.50339A>T (p.Lys16780Ile) c.31955A>T (p.Lys10652Ile) c.53450A>T (p.Lys17817Ile) c.53447A>T (p.Lys17816Ile) c.52880A>T (p.Lys17627Ile) c.50222A>T (p.Lys16741Ile) c.50141A>T (p.Lys16714Ile) c.31904A>T (p.Lys10635Ile) c.21758A>T (p.Lys7253Ile) | |
2 | g.178593199T>C | CA349499984 | TTN,TTN-AS1 | c.51305A>G (p.Lys17102Arg) c.32390A>G (p.Lys10797Arg) c.32189A>G (p.Lys10730Arg) c.31814A>G (p.Lys10605Arg) c.59009A>G (p.Lys19670Arg) c.54086A>G (p.Lys18029Arg) n.597-4397T>C n.3364+1885T>C c.58106A>G (p.Lys19369Arg) c.32000A>G (p.Lys10667Arg) c.31859A>G (p.Lys10620Arg) c.57902A>G (p.Lys19301Arg) c.53300A>G (p.Lys17767Arg) c.53297A>G (p.Lys17766Arg) c.50339A>G (p.Lys16780Arg) c.31955A>G (p.Lys10652Arg) c.53450A>G (p.Lys17817Arg) c.53447A>G (p.Lys17816Arg) c.52880A>G (p.Lys17627Arg) c.50222A>G (p.Lys16741Arg) c.50141A>G (p.Lys16714Arg) c.31904A>G (p.Lys10635Arg) c.21758A>G (p.Lys7253Arg) | |
2 | g.178593199T>G | CA349499985 | TTN,TTN-AS1 | c.51305A>C (p.Lys17102Thr) c.32390A>C (p.Lys10797Thr) c.32189A>C (p.Lys10730Thr) c.31814A>C (p.Lys10605Thr) c.59009A>C (p.Lys19670Thr) c.54086A>C (p.Lys18029Thr) n.597-4397T>G n.3364+1885T>G c.58106A>C (p.Lys19369Thr) c.32000A>C (p.Lys10667Thr) c.31859A>C (p.Lys10620Thr) c.57902A>C (p.Lys19301Thr) c.53300A>C (p.Lys17767Thr) c.53297A>C (p.Lys17766Thr) c.50339A>C (p.Lys16780Thr) c.31955A>C (p.Lys10652Thr) c.53450A>C (p.Lys17817Thr) c.53447A>C (p.Lys17816Thr) c.52880A>C (p.Lys17627Thr) c.50222A>C (p.Lys16741Thr) c.50141A>C (p.Lys16714Thr) c.31904A>C (p.Lys10635Thr) c.21758A>C (p.Lys7253Thr) | |
2 | g.178593205_178593217del | CA1139655664 | TTN,TTN-AS1 | c.51293_51305del (p.Ser17098AsnfsTer21) c.32378_32390del (p.Ser10793AsnfsTer21) c.32177_32189del (p.Ser10726AsnfsTer21) c.31802_31814del (p.Ser10601AsnfsTer21) c.58997_59009del (p.Ser19666AsnfsTer21) c.54074_54086del (p.Ser18025AsnfsTer21) n.597-4391_597-4379del n.3364+1891_3364+1903del c.58094_58106del (p.Ser19365AsnfsTer21) c.31988_32000del (p.Ser10663AsnfsTer21) c.31847_31859del (p.Ser10616AsnfsTer21) c.57890_57902del (p.Ser19297AsnfsTer21) c.53288_53300del (p.Ser17763AsnfsTer21) c.53285_53297del (p.Ser17762AsnfsTer21) c.50327_50339del (p.Ser16776AsnfsTer21) c.31943_31955del (p.Ser10648AsnfsTer21) c.53438_53450del (p.Ser17813AsnfsTer21) c.53435_53447del (p.Ser17812AsnfsTer21) c.52868_52880del (p.Ser17623AsnfsTer21) c.50210_50222del (p.Ser16737AsnfsTer21) c.50129_50141del (p.Ser16710AsnfsTer21) c.31892_31904del (p.Ser10631AsnfsTer21) c.21746_21758del (p.Ser7249AsnfsTer21) | ClinVar dbSNP |
2 | g.178593200T>A | CA349499986 | TTN,TTN-AS1 | c.51304A>T (p.Lys17102Ter) c.32389A>T (p.Lys10797Ter) c.32188A>T (p.Lys10730Ter) c.31813A>T (p.Lys10605Ter) c.59008A>T (p.Lys19670Ter) c.54085A>T (p.Lys18029Ter) n.597-4396T>A n.3364+1886T>A c.58105A>T (p.Lys19369Ter) c.31999A>T (p.Lys10667Ter) c.31858A>T (p.Lys10620Ter) c.57901A>T (p.Lys19301Ter) c.53299A>T (p.Lys17767Ter) c.53296A>T (p.Lys17766Ter) c.50338A>T (p.Lys16780Ter) c.31954A>T (p.Lys10652Ter) c.53449A>T (p.Lys17817Ter) c.53446A>T (p.Lys17816Ter) c.52879A>T (p.Lys17627Ter) c.50221A>T (p.Lys16741Ter) c.50140A>T (p.Lys16714Ter) c.31903A>T (p.Lys10635Ter) c.21757A>T (p.Lys7253Ter) | |
2 | g.178593200T>C | CA349499988 | TTN,TTN-AS1 | c.51304A>G (p.Lys17102Glu) c.32389A>G (p.Lys10797Glu) c.32188A>G (p.Lys10730Glu) c.31813A>G (p.Lys10605Glu) c.59008A>G (p.Lys19670Glu) c.54085A>G (p.Lys18029Glu) n.597-4396T>C n.3364+1886T>C c.58105A>G (p.Lys19369Glu) c.31999A>G (p.Lys10667Glu) c.31858A>G (p.Lys10620Glu) c.57901A>G (p.Lys19301Glu) c.53299A>G (p.Lys17767Glu) c.53296A>G (p.Lys17766Glu) c.50338A>G (p.Lys16780Glu) c.31954A>G (p.Lys10652Glu) c.53449A>G (p.Lys17817Glu) c.53446A>G (p.Lys17816Glu) c.52879A>G (p.Lys17627Glu) c.50221A>G (p.Lys16741Glu) c.50140A>G (p.Lys16714Glu) c.31903A>G (p.Lys10635Glu) c.21757A>G (p.Lys7253Glu) | |
2 | g.178593200T>G | CA349499993 | TTN,TTN-AS1 | c.51304A>C (p.Lys17102Gln) c.32389A>C (p.Lys10797Gln) c.32188A>C (p.Lys10730Gln) c.31813A>C (p.Lys10605Gln) c.59008A>C (p.Lys19670Gln) c.54085A>C (p.Lys18029Gln) n.597-4396T>G n.3364+1886T>G c.58105A>C (p.Lys19369Gln) c.31999A>C (p.Lys10667Gln) c.31858A>C (p.Lys10620Gln) c.57901A>C (p.Lys19301Gln) c.53299A>C (p.Lys17767Gln) c.53296A>C (p.Lys17766Gln) c.50338A>C (p.Lys16780Gln) c.31954A>C (p.Lys10652Gln) c.53449A>C (p.Lys17817Gln) c.53446A>C (p.Lys17816Gln) c.52879A>C (p.Lys17627Gln) c.50221A>C (p.Lys16741Gln) c.50140A>C (p.Lys16714Gln) c.31903A>C (p.Lys10635Gln) c.21757A>C (p.Lys7253Gln) | |
2 | g.178593201G>A | CA430267341 | TTN,TTN-AS1 | c.51303C>T (p.Ser17101=) c.32388C>T (p.Ser10796=) c.32187C>T (p.Ser10729=) c.31812C>T (p.Ser10604=) c.59007C>T (p.Ser19669=) c.54084C>T (p.Ser18028=) n.597-4395G>A n.3364+1887G>A c.58104C>T (p.Ser19368=) c.31998C>T (p.Ser10666=) c.31857C>T (p.Ser10619=) c.57900C>T (p.Ser19300=) c.53298C>T (p.Ser17766=) c.53295C>T (p.Ser17765=) c.50337C>T (p.Ser16779=) c.31953C>T (p.Ser10651=) c.53448C>T (p.Ser17816=) c.53445C>T (p.Ser17815=) c.52878C>T (p.Ser17626=) c.50220C>T (p.Ser16740=) c.50139C>T (p.Ser16713=) c.31902C>T (p.Ser10634=) c.21756C>T (p.Ser7252=) | |
2 | g.178593201G>C | CA430267342 | TTN,TTN-AS1 | c.51303C>G (p.Ser17101=) c.32388C>G (p.Ser10796=) c.32187C>G (p.Ser10729=) c.31812C>G (p.Ser10604=) c.59007C>G (p.Ser19669=) c.54084C>G (p.Ser18028=) n.597-4395G>C n.3364+1887G>C c.58104C>G (p.Ser19368=) c.31998C>G (p.Ser10666=) c.31857C>G (p.Ser10619=) c.57900C>G (p.Ser19300=) c.53298C>G (p.Ser17766=) c.53295C>G (p.Ser17765=) c.50337C>G (p.Ser16779=) c.31953C>G (p.Ser10651=) c.53448C>G (p.Ser17816=) c.53445C>G (p.Ser17815=) c.52878C>G (p.Ser17626=) c.50220C>G (p.Ser16740=) c.50139C>G (p.Ser16713=) c.31902C>G (p.Ser10634=) c.21756C>G (p.Ser7252=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178593201G= | CA1310540421 | TTN,TTN-AS1 | c.51303C= (p.Ser17101=) c.32388C= (p.Ser10796=) c.32187C= (p.Ser10729=) c.31812C= (p.Ser10604=) c.59007C= (p.Ser19669=) c.54084C= (p.Ser18028=) n.597-4395G= n.3364+1887G= c.58104C= (p.Ser19368=) c.31998C= (p.Ser10666=) c.31857C= (p.Ser10619=) c.57900C= (p.Ser19300=) c.53298C= (p.Ser17766=) c.53295C= (p.Ser17765=) c.50337C= (p.Ser16779=) c.31953C= (p.Ser10651=) c.53448C= (p.Ser17816=) c.53445C= (p.Ser17815=) c.52878C= (p.Ser17626=) c.50220C= (p.Ser16740=) c.50139C= (p.Ser16713=) c.31902C= (p.Ser10634=) c.21756C= (p.Ser7252=) | |
2 | g.178593201G>T | CA1992743 | TTN,TTN-AS1 | c.51303C>A (p.Ser17101=) c.32388C>A (p.Ser10796=) c.32187C>A (p.Ser10729=) c.31812C>A (p.Ser10604=) c.59007C>A (p.Ser19669=) c.54084C>A (p.Ser18028=) n.597-4395G>T n.3364+1887G>T c.58104C>A (p.Ser19368=) c.31998C>A (p.Ser10666=) c.31857C>A (p.Ser10619=) c.57900C>A (p.Ser19300=) c.53298C>A (p.Ser17766=) c.53295C>A (p.Ser17765=) c.50337C>A (p.Ser16779=) c.31953C>A (p.Ser10651=) c.53448C>A (p.Ser17816=) c.53445C>A (p.Ser17815=) c.52878C>A (p.Ser17626=) c.50220C>A (p.Ser16740=) c.50139C>A (p.Ser16713=) c.31902C>A (p.Ser10634=) c.21756C>A (p.Ser7252=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178593202G>A | CA349500004 | TTN,TTN-AS1 | c.51302C>T (p.Ser17101Phe) c.32387C>T (p.Ser10796Phe) c.32186C>T (p.Ser10729Phe) c.31811C>T (p.Ser10604Phe) c.59006C>T (p.Ser19669Phe) c.54083C>T (p.Ser18028Phe) n.597-4394G>A n.3364+1888G>A c.58103C>T (p.Ser19368Phe) c.31997C>T (p.Ser10666Phe) c.31856C>T (p.Ser10619Phe) c.57899C>T (p.Ser19300Phe) c.53297C>T (p.Ser17766Phe) c.53294C>T (p.Ser17765Phe) c.50336C>T (p.Ser16779Phe) c.31952C>T (p.Ser10651Phe) c.53447C>T (p.Ser17816Phe) c.53444C>T (p.Ser17815Phe) c.52877C>T (p.Ser17626Phe) c.50219C>T (p.Ser16740Phe) c.50138C>T (p.Ser16713Phe) c.31901C>T (p.Ser10634Phe) c.21755C>T (p.Ser7252Phe) | |
2 | g.178593202G>C | CA349500000 | TTN,TTN-AS1 | c.51302C>G (p.Ser17101Cys) c.32387C>G (p.Ser10796Cys) c.32186C>G (p.Ser10729Cys) c.31811C>G (p.Ser10604Cys) c.59006C>G (p.Ser19669Cys) c.54083C>G (p.Ser18028Cys) n.597-4394G>C n.3364+1888G>C c.58103C>G (p.Ser19368Cys) c.31997C>G (p.Ser10666Cys) c.31856C>G (p.Ser10619Cys) c.57899C>G (p.Ser19300Cys) c.53297C>G (p.Ser17766Cys) c.53294C>G (p.Ser17765Cys) c.50336C>G (p.Ser16779Cys) c.31952C>G (p.Ser10651Cys) c.53447C>G (p.Ser17816Cys) c.53444C>G (p.Ser17815Cys) c.52877C>G (p.Ser17626Cys) c.50219C>G (p.Ser16740Cys) c.50138C>G (p.Ser16713Cys) c.31901C>G (p.Ser10634Cys) c.21755C>G (p.Ser7252Cys) | |
2 | g.178593202G>T | CA349500001 | TTN,TTN-AS1 | c.51302C>A (p.Ser17101Tyr) c.32387C>A (p.Ser10796Tyr) c.32186C>A (p.Ser10729Tyr) c.31811C>A (p.Ser10604Tyr) c.59006C>A (p.Ser19669Tyr) c.54083C>A (p.Ser18028Tyr) n.597-4394G>T n.3364+1888G>T c.58103C>A (p.Ser19368Tyr) c.31997C>A (p.Ser10666Tyr) c.31856C>A (p.Ser10619Tyr) c.57899C>A (p.Ser19300Tyr) c.53297C>A (p.Ser17766Tyr) c.53294C>A (p.Ser17765Tyr) c.50336C>A (p.Ser16779Tyr) c.31952C>A (p.Ser10651Tyr) c.53447C>A (p.Ser17816Tyr) c.53444C>A (p.Ser17815Tyr) c.52877C>A (p.Ser17626Tyr) c.50219C>A (p.Ser16740Tyr) c.50138C>A (p.Ser16713Tyr) c.31901C>A (p.Ser10634Tyr) c.21755C>A (p.Ser7252Tyr) | |
2 | g.178593203A= | CA1310540423 | TTN,TTN-AS1 | c.51301T= (p.Ser17101=) c.32386T= (p.Ser10796=) c.32185T= (p.Ser10729=) c.31810T= (p.Ser10604=) c.59005T= (p.Ser19669=) c.54082T= (p.Ser18028=) n.597-4393A= n.3364+1889A= c.58102T= (p.Ser19368=) c.31996T= (p.Ser10666=) c.31855T= (p.Ser10619=) c.57898T= (p.Ser19300=) c.53296T= (p.Ser17766=) c.53293T= (p.Ser17765=) c.50335T= (p.Ser16779=) c.31951T= (p.Ser10651=) c.53446T= (p.Ser17816=) c.53443T= (p.Ser17815=) c.52876T= (p.Ser17626=) c.50218T= (p.Ser16740=) c.50137T= (p.Ser16713=) c.31900T= (p.Ser10634=) c.21754T= (p.Ser7252=) | |
2 | g.178593203A>C | CA349500006 | TTN,TTN-AS1 | c.51301T>G (p.Ser17101Ala) c.32386T>G (p.Ser10796Ala) c.32185T>G (p.Ser10729Ala) c.31810T>G (p.Ser10604Ala) c.59005T>G (p.Ser19669Ala) c.54082T>G (p.Ser18028Ala) n.597-4393A>C n.3364+1889A>C c.58102T>G (p.Ser19368Ala) c.31996T>G (p.Ser10666Ala) c.31855T>G (p.Ser10619Ala) c.57898T>G (p.Ser19300Ala) c.53296T>G (p.Ser17766Ala) c.53293T>G (p.Ser17765Ala) c.50335T>G (p.Ser16779Ala) c.31951T>G (p.Ser10651Ala) c.53446T>G (p.Ser17816Ala) c.53443T>G (p.Ser17815Ala) c.52876T>G (p.Ser17626Ala) c.50218T>G (p.Ser16740Ala) c.50137T>G (p.Ser16713Ala) c.31900T>G (p.Ser10634Ala) c.21754T>G (p.Ser7252Ala) | |
2 | g.178593203A>G | CA349500009 | TTN,TTN-AS1 | c.51301T>C (p.Ser17101Pro) c.32386T>C (p.Ser10796Pro) c.32185T>C (p.Ser10729Pro) c.31810T>C (p.Ser10604Pro) c.59005T>C (p.Ser19669Pro) c.54082T>C (p.Ser18028Pro) n.597-4393A>G n.3364+1889A>G c.58102T>C (p.Ser19368Pro) c.31996T>C (p.Ser10666Pro) c.31855T>C (p.Ser10619Pro) c.57898T>C (p.Ser19300Pro) c.53296T>C (p.Ser17766Pro) c.53293T>C (p.Ser17765Pro) c.50335T>C (p.Ser16779Pro) c.31951T>C (p.Ser10651Pro) c.53446T>C (p.Ser17816Pro) c.53443T>C (p.Ser17815Pro) c.52876T>C (p.Ser17626Pro) c.50218T>C (p.Ser16740Pro) c.50137T>C (p.Ser16713Pro) c.31900T>C (p.Ser10634Pro) c.21754T>C (p.Ser7252Pro) | gnomAD v4 |
2 | g.178593203A>T | CA349500013 | TTN,TTN-AS1 | c.51301T>A (p.Ser17101Thr) c.32386T>A (p.Ser10796Thr) c.32185T>A (p.Ser10729Thr) c.31810T>A (p.Ser10604Thr) c.59005T>A (p.Ser19669Thr) c.54082T>A (p.Ser18028Thr) n.597-4393A>T n.3364+1889A>T c.58102T>A (p.Ser19368Thr) c.31996T>A (p.Ser10666Thr) c.31855T>A (p.Ser10619Thr) c.57898T>A (p.Ser19300Thr) c.53296T>A (p.Ser17766Thr) c.53293T>A (p.Ser17765Thr) c.50335T>A (p.Ser16779Thr) c.31951T>A (p.Ser10651Thr) c.53446T>A (p.Ser17816Thr) c.53443T>A (p.Ser17815Thr) c.52876T>A (p.Ser17626Thr) c.50218T>A (p.Ser16740Thr) c.50137T>A (p.Ser16713Thr) c.31900T>A (p.Ser10634Thr) c.21754T>A (p.Ser7252Thr) | dbSNP |
2 | g.178593204T>A | CA430267345 | TTN,TTN-AS1 | c.51300A>T (p.Pro17100=) c.32385A>T (p.Pro10795=) c.32184A>T (p.Pro10728=) c.31809A>T (p.Pro10603=) c.59004A>T (p.Pro19668=) c.54081A>T (p.Pro18027=) n.597-4392T>A n.3364+1890T>A c.58101A>T (p.Pro19367=) c.31995A>T (p.Pro10665=) c.31854A>T (p.Pro10618=) c.57897A>T (p.Pro19299=) c.53295A>T (p.Pro17765=) c.53292A>T (p.Pro17764=) c.50334A>T (p.Pro16778=) c.31950A>T (p.Pro10650=) c.53445A>T (p.Pro17815=) c.53442A>T (p.Pro17814=) c.52875A>T (p.Pro17625=) c.50217A>T (p.Pro16739=) c.50136A>T (p.Pro16712=) c.31899A>T (p.Pro10633=) c.21753A>T (p.Pro7251=) | |
2 | g.178593204T>C | CA430267346 | TTN,TTN-AS1 | c.51300A>G (p.Pro17100=) c.32385A>G (p.Pro10795=) c.32184A>G (p.Pro10728=) c.31809A>G (p.Pro10603=) c.59004A>G (p.Pro19668=) c.54081A>G (p.Pro18027=) n.597-4392T>C n.3364+1890T>C c.58101A>G (p.Pro19367=) c.31995A>G (p.Pro10665=) c.31854A>G (p.Pro10618=) c.57897A>G (p.Pro19299=) c.53295A>G (p.Pro17765=) c.53292A>G (p.Pro17764=) c.50334A>G (p.Pro16778=) c.31950A>G (p.Pro10650=) c.53445A>G (p.Pro17815=) c.53442A>G (p.Pro17814=) c.52875A>G (p.Pro17625=) c.50217A>G (p.Pro16739=) c.50136A>G (p.Pro16712=) c.31899A>G (p.Pro10633=) c.21753A>G (p.Pro7251=) | |
2 | g.178593204T>G | CA430267347 | TTN,TTN-AS1 | c.51300A>C (p.Pro17100=) c.32385A>C (p.Pro10795=) c.32184A>C (p.Pro10728=) c.31809A>C (p.Pro10603=) c.59004A>C (p.Pro19668=) c.54081A>C (p.Pro18027=) n.597-4392T>G n.3364+1890T>G c.58101A>C (p.Pro19367=) c.31995A>C (p.Pro10665=) c.31854A>C (p.Pro10618=) c.57897A>C (p.Pro19299=) c.53295A>C (p.Pro17765=) c.53292A>C (p.Pro17764=) c.50334A>C (p.Pro16778=) c.31950A>C (p.Pro10650=) c.53445A>C (p.Pro17815=) c.53442A>C (p.Pro17814=) c.52875A>C (p.Pro17625=) c.50217A>C (p.Pro16739=) c.50136A>C (p.Pro16712=) c.31899A>C (p.Pro10633=) c.21753A>C (p.Pro7251=) | |
2 | g.178593205G>A | CA310140 | TTN,TTN-AS1 | c.51299C>T (p.Pro17100Leu) c.32384C>T (p.Pro10795Leu) c.32183C>T (p.Pro10728Leu) c.31808C>T (p.Pro10603Leu) c.59003C>T (p.Pro19668Leu) c.54080C>T (p.Pro18027Leu) n.597-4391G>A n.3364+1891G>A c.58100C>T (p.Pro19367Leu) c.31994C>T (p.Pro10665Leu) c.31853C>T (p.Pro10618Leu) c.57896C>T (p.Pro19299Leu) c.53294C>T (p.Pro17765Leu) c.53291C>T (p.Pro17764Leu) c.50333C>T (p.Pro16778Leu) c.31949C>T (p.Pro10650Leu) c.53444C>T (p.Pro17815Leu) c.53441C>T (p.Pro17814Leu) c.52874C>T (p.Pro17625Leu) c.50216C>T (p.Pro16739Leu) c.50135C>T (p.Pro16712Leu) c.31898C>T (p.Pro10633Leu) c.21752C>T (p.Pro7251Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178593205G>C | CA349500016 | TTN,TTN-AS1 | c.51299C>G (p.Pro17100Arg) c.32384C>G (p.Pro10795Arg) c.32183C>G (p.Pro10728Arg) c.31808C>G (p.Pro10603Arg) c.59003C>G (p.Pro19668Arg) c.54080C>G (p.Pro18027Arg) n.597-4391G>C n.3364+1891G>C c.58100C>G (p.Pro19367Arg) c.31994C>G (p.Pro10665Arg) c.31853C>G (p.Pro10618Arg) c.57896C>G (p.Pro19299Arg) c.53294C>G (p.Pro17765Arg) c.53291C>G (p.Pro17764Arg) c.50333C>G (p.Pro16778Arg) c.31949C>G (p.Pro10650Arg) c.53444C>G (p.Pro17815Arg) c.53441C>G (p.Pro17814Arg) c.52874C>G (p.Pro17625Arg) c.50216C>G (p.Pro16739Arg) c.50135C>G (p.Pro16712Arg) c.31898C>G (p.Pro10633Arg) c.21752C>G (p.Pro7251Arg) | |
2 | g.178593205G= | CA1310540424 | TTN,TTN-AS1 | c.51299C= (p.Pro17100=) c.32384C= (p.Pro10795=) c.32183C= (p.Pro10728=) c.31808C= (p.Pro10603=) c.59003C= (p.Pro19668=) c.54080C= (p.Pro18027=) n.597-4391G= n.3364+1891G= c.58100C= (p.Pro19367=) c.31994C= (p.Pro10665=) c.31853C= (p.Pro10618=) c.57896C= (p.Pro19299=) c.53294C= (p.Pro17765=) c.53291C= (p.Pro17764=) c.50333C= (p.Pro16778=) c.31949C= (p.Pro10650=) c.53444C= (p.Pro17815=) c.53441C= (p.Pro17814=) c.52874C= (p.Pro17625=) c.50216C= (p.Pro16739=) c.50135C= (p.Pro16712=) c.31898C= (p.Pro10633=) c.21752C= (p.Pro7251=) | |
2 | g.178593205G>T | CA349500018 | TTN,TTN-AS1 | c.51299C>A (p.Pro17100Gln) c.32384C>A (p.Pro10795Gln) c.32183C>A (p.Pro10728Gln) c.31808C>A (p.Pro10603Gln) c.59003C>A (p.Pro19668Gln) c.54080C>A (p.Pro18027Gln) n.597-4391G>T n.3364+1891G>T c.58100C>A (p.Pro19367Gln) c.31994C>A (p.Pro10665Gln) c.31853C>A (p.Pro10618Gln) c.57896C>A (p.Pro19299Gln) c.53294C>A (p.Pro17765Gln) c.53291C>A (p.Pro17764Gln) c.50333C>A (p.Pro16778Gln) c.31949C>A (p.Pro10650Gln) c.53444C>A (p.Pro17815Gln) c.53441C>A (p.Pro17814Gln) c.52874C>A (p.Pro17625Gln) c.50216C>A (p.Pro16739Gln) c.50135C>A (p.Pro16712Gln) c.31898C>A (p.Pro10633Gln) c.21752C>A (p.Pro7251Gln) | dbSNP gnomAD v4 |
2 | g.178593206G>A | CA349500024 | TTN,TTN-AS1 | c.51298C>T (p.Pro17100Ser) c.32383C>T (p.Pro10795Ser) c.32182C>T (p.Pro10728Ser) c.31807C>T (p.Pro10603Ser) c.59002C>T (p.Pro19668Ser) c.54079C>T (p.Pro18027Ser) n.597-4390G>A n.3364+1892G>A c.58099C>T (p.Pro19367Ser) c.31993C>T (p.Pro10665Ser) c.31852C>T (p.Pro10618Ser) c.57895C>T (p.Pro19299Ser) c.53293C>T (p.Pro17765Ser) c.53290C>T (p.Pro17764Ser) c.50332C>T (p.Pro16778Ser) c.31948C>T (p.Pro10650Ser) c.53443C>T (p.Pro17815Ser) c.53440C>T (p.Pro17814Ser) c.52873C>T (p.Pro17625Ser) c.50215C>T (p.Pro16739Ser) c.50134C>T (p.Pro16712Ser) c.31897C>T (p.Pro10633Ser) c.21751C>T (p.Pro7251Ser) | gnomAD v4 |
2 | g.178593206G>C | CA349500026 | TTN,TTN-AS1 | c.51298C>G (p.Pro17100Ala) c.32383C>G (p.Pro10795Ala) c.32182C>G (p.Pro10728Ala) c.31807C>G (p.Pro10603Ala) c.59002C>G (p.Pro19668Ala) c.54079C>G (p.Pro18027Ala) n.597-4390G>C n.3364+1892G>C c.58099C>G (p.Pro19367Ala) c.31993C>G (p.Pro10665Ala) c.31852C>G (p.Pro10618Ala) c.57895C>G (p.Pro19299Ala) c.53293C>G (p.Pro17765Ala) c.53290C>G (p.Pro17764Ala) c.50332C>G (p.Pro16778Ala) c.31948C>G (p.Pro10650Ala) c.53443C>G (p.Pro17815Ala) c.53440C>G (p.Pro17814Ala) c.52873C>G (p.Pro17625Ala) c.50215C>G (p.Pro16739Ala) c.50134C>G (p.Pro16712Ala) c.31897C>G (p.Pro10633Ala) c.21751C>G (p.Pro7251Ala) | |
2 | g.178593206G>T | CA349500030 | TTN,TTN-AS1 | c.51298C>A (p.Pro17100Thr) c.32383C>A (p.Pro10795Thr) c.32182C>A (p.Pro10728Thr) c.31807C>A (p.Pro10603Thr) c.59002C>A (p.Pro19668Thr) c.54079C>A (p.Pro18027Thr) n.597-4390G>T n.3364+1892G>T c.58099C>A (p.Pro19367Thr) c.31993C>A (p.Pro10665Thr) c.31852C>A (p.Pro10618Thr) c.57895C>A (p.Pro19299Thr) c.53293C>A (p.Pro17765Thr) c.53290C>A (p.Pro17764Thr) c.50332C>A (p.Pro16778Thr) c.31948C>A (p.Pro10650Thr) c.53443C>A (p.Pro17815Thr) c.53440C>A (p.Pro17814Thr) c.52873C>A (p.Pro17625Thr) c.50215C>A (p.Pro16739Thr) c.50134C>A (p.Pro16712Thr) c.31897C>A (p.Pro10633Thr) c.21751C>A (p.Pro7251Thr) | dbSNP |
2 | g.178593207T>A | CA430267351 | TTN,TTN-AS1 | c.51297A>T (p.Pro17099=) c.32382A>T (p.Pro10794=) c.32181A>T (p.Pro10727=) c.31806A>T (p.Pro10602=) c.59001A>T (p.Pro19667=) c.54078A>T (p.Pro18026=) n.597-4389T>A n.3364+1893T>A c.58098A>T (p.Pro19366=) c.31992A>T (p.Pro10664=) c.31851A>T (p.Pro10617=) c.57894A>T (p.Pro19298=) c.53292A>T (p.Pro17764=) c.53289A>T (p.Pro17763=) c.50331A>T (p.Pro16777=) c.31947A>T (p.Pro10649=) c.53442A>T (p.Pro17814=) c.53439A>T (p.Pro17813=) c.52872A>T (p.Pro17624=) c.50214A>T (p.Pro16738=) c.50133A>T (p.Pro16711=) c.31896A>T (p.Pro10632=) c.21750A>T (p.Pro7250=) | |
2 | g.178593207T>C | CA430267352 | TTN,TTN-AS1 | c.51297A>G (p.Pro17099=) c.32382A>G (p.Pro10794=) c.32181A>G (p.Pro10727=) c.31806A>G (p.Pro10602=) c.59001A>G (p.Pro19667=) c.54078A>G (p.Pro18026=) n.597-4389T>C n.3364+1893T>C c.58098A>G (p.Pro19366=) c.31992A>G (p.Pro10664=) c.31851A>G (p.Pro10617=) c.57894A>G (p.Pro19298=) c.53292A>G (p.Pro17764=) c.53289A>G (p.Pro17763=) c.50331A>G (p.Pro16777=) c.31947A>G (p.Pro10649=) c.53442A>G (p.Pro17814=) c.53439A>G (p.Pro17813=) c.52872A>G (p.Pro17624=) c.50214A>G (p.Pro16738=) c.50133A>G (p.Pro16711=) c.31896A>G (p.Pro10632=) c.21750A>G (p.Pro7250=) | |
2 | g.178593207T>G | CA430267353 | TTN,TTN-AS1 | c.51297A>C (p.Pro17099=) c.32382A>C (p.Pro10794=) c.32181A>C (p.Pro10727=) c.31806A>C (p.Pro10602=) c.59001A>C (p.Pro19667=) c.54078A>C (p.Pro18026=) n.597-4389T>G n.3364+1893T>G c.58098A>C (p.Pro19366=) c.31992A>C (p.Pro10664=) c.31851A>C (p.Pro10617=) c.57894A>C (p.Pro19298=) c.53292A>C (p.Pro17764=) c.53289A>C (p.Pro17763=) c.50331A>C (p.Pro16777=) c.31947A>C (p.Pro10649=) c.53442A>C (p.Pro17814=) c.53439A>C (p.Pro17813=) c.52872A>C (p.Pro17624=) c.50214A>C (p.Pro16738=) c.50133A>C (p.Pro16711=) c.31896A>C (p.Pro10632=) c.21750A>C (p.Pro7250=) | |
2 | g.178593208G>A | CA349500036 | TTN,TTN-AS1 | c.51296C>T (p.Pro17099Leu) c.32381C>T (p.Pro10794Leu) c.32180C>T (p.Pro10727Leu) c.31805C>T (p.Pro10602Leu) c.59000C>T (p.Pro19667Leu) c.54077C>T (p.Pro18026Leu) n.597-4388G>A n.3364+1894G>A c.58097C>T (p.Pro19366Leu) c.31991C>T (p.Pro10664Leu) c.31850C>T (p.Pro10617Leu) c.57893C>T (p.Pro19298Leu) c.53291C>T (p.Pro17764Leu) c.53288C>T (p.Pro17763Leu) c.50330C>T (p.Pro16777Leu) c.31946C>T (p.Pro10649Leu) c.53441C>T (p.Pro17814Leu) c.53438C>T (p.Pro17813Leu) c.52871C>T (p.Pro17624Leu) c.50213C>T (p.Pro16738Leu) c.50132C>T (p.Pro16711Leu) c.31895C>T (p.Pro10632Leu) c.21749C>T (p.Pro7250Leu) | |
2 | g.178593208G>C | CA349500037 | TTN,TTN-AS1 | c.51296C>G (p.Pro17099Arg) c.32381C>G (p.Pro10794Arg) c.32180C>G (p.Pro10727Arg) c.31805C>G (p.Pro10602Arg) c.59000C>G (p.Pro19667Arg) c.54077C>G (p.Pro18026Arg) n.597-4388G>C n.3364+1894G>C c.58097C>G (p.Pro19366Arg) c.31991C>G (p.Pro10664Arg) c.31850C>G (p.Pro10617Arg) c.57893C>G (p.Pro19298Arg) c.53291C>G (p.Pro17764Arg) c.53288C>G (p.Pro17763Arg) c.50330C>G (p.Pro16777Arg) c.31946C>G (p.Pro10649Arg) c.53441C>G (p.Pro17814Arg) c.53438C>G (p.Pro17813Arg) c.52871C>G (p.Pro17624Arg) c.50213C>G (p.Pro16738Arg) c.50132C>G (p.Pro16711Arg) c.31895C>G (p.Pro10632Arg) c.21749C>G (p.Pro7250Arg) | |
2 | g.178593208G>T | CA349500038 | TTN,TTN-AS1 | c.51296C>A (p.Pro17099Gln) c.32381C>A (p.Pro10794Gln) c.32180C>A (p.Pro10727Gln) c.31805C>A (p.Pro10602Gln) c.59000C>A (p.Pro19667Gln) c.54077C>A (p.Pro18026Gln) n.597-4388G>T n.3364+1894G>T c.58097C>A (p.Pro19366Gln) c.31991C>A (p.Pro10664Gln) c.31850C>A (p.Pro10617Gln) c.57893C>A (p.Pro19298Gln) c.53291C>A (p.Pro17764Gln) c.53288C>A (p.Pro17763Gln) c.50330C>A (p.Pro16777Gln) c.31946C>A (p.Pro10649Gln) c.53441C>A (p.Pro17814Gln) c.53438C>A (p.Pro17813Gln) c.52871C>A (p.Pro17624Gln) c.50213C>A (p.Pro16738Gln) c.50132C>A (p.Pro16711Gln) c.31895C>A (p.Pro10632Gln) c.21749C>A (p.Pro7250Gln) | |
2 | g.178593209G>A | CA349500040 | TTN,TTN-AS1 | c.51295C>T (p.Pro17099Ser) c.32380C>T (p.Pro10794Ser) c.32179C>T (p.Pro10727Ser) c.31804C>T (p.Pro10602Ser) c.58999C>T (p.Pro19667Ser) c.54076C>T (p.Pro18026Ser) n.597-4387G>A n.3364+1895G>A c.58096C>T (p.Pro19366Ser) c.31990C>T (p.Pro10664Ser) c.31849C>T (p.Pro10617Ser) c.57892C>T (p.Pro19298Ser) c.53290C>T (p.Pro17764Ser) c.53287C>T (p.Pro17763Ser) c.50329C>T (p.Pro16777Ser) c.31945C>T (p.Pro10649Ser) c.53440C>T (p.Pro17814Ser) c.53437C>T (p.Pro17813Ser) c.52870C>T (p.Pro17624Ser) c.50212C>T (p.Pro16738Ser) c.50131C>T (p.Pro16711Ser) c.31894C>T (p.Pro10632Ser) c.21748C>T (p.Pro7250Ser) | |
2 | g.178593209G>C | CA349500042 | TTN,TTN-AS1 | c.51295C>G (p.Pro17099Ala) c.32380C>G (p.Pro10794Ala) c.32179C>G (p.Pro10727Ala) c.31804C>G (p.Pro10602Ala) c.58999C>G (p.Pro19667Ala) c.54076C>G (p.Pro18026Ala) n.597-4387G>C n.3364+1895G>C c.58096C>G (p.Pro19366Ala) c.31990C>G (p.Pro10664Ala) c.31849C>G (p.Pro10617Ala) c.57892C>G (p.Pro19298Ala) c.53290C>G (p.Pro17764Ala) c.53287C>G (p.Pro17763Ala) c.50329C>G (p.Pro16777Ala) c.31945C>G (p.Pro10649Ala) c.53440C>G (p.Pro17814Ala) c.53437C>G (p.Pro17813Ala) c.52870C>G (p.Pro17624Ala) c.50212C>G (p.Pro16738Ala) c.50131C>G (p.Pro16711Ala) c.31894C>G (p.Pro10632Ala) c.21748C>G (p.Pro7250Ala) | |
2 | g.178593209G>T | CA349500039 | TTN,TTN-AS1 | c.51295C>A (p.Pro17099Thr) c.32380C>A (p.Pro10794Thr) c.32179C>A (p.Pro10727Thr) c.31804C>A (p.Pro10602Thr) c.58999C>A (p.Pro19667Thr) c.54076C>A (p.Pro18026Thr) n.597-4387G>T n.3364+1895G>T c.58096C>A (p.Pro19366Thr) c.31990C>A (p.Pro10664Thr) c.31849C>A (p.Pro10617Thr) c.57892C>A (p.Pro19298Thr) c.53290C>A (p.Pro17764Thr) c.53287C>A (p.Pro17763Thr) c.50329C>A (p.Pro16777Thr) c.31945C>A (p.Pro10649Thr) c.53440C>A (p.Pro17814Thr) c.53437C>A (p.Pro17813Thr) c.52870C>A (p.Pro17624Thr) c.50212C>A (p.Pro16738Thr) c.50131C>A (p.Pro16711Thr) c.31894C>A (p.Pro10632Thr) c.21748C>A (p.Pro7250Thr) | |
2 | g.178593210G>A | CA430267355 | TTN,TTN-AS1 | c.51294C>T (p.Ser17098=) c.32379C>T (p.Ser10793=) c.32178C>T (p.Ser10726=) c.31803C>T (p.Ser10601=) c.58998C>T (p.Ser19666=) c.54075C>T (p.Ser18025=) n.597-4386G>A n.3364+1896G>A c.58095C>T (p.Ser19365=) c.31989C>T (p.Ser10663=) c.31848C>T (p.Ser10616=) c.57891C>T (p.Ser19297=) c.53289C>T (p.Ser17763=) c.53286C>T (p.Ser17762=) c.50328C>T (p.Ser16776=) c.31944C>T (p.Ser10648=) c.53439C>T (p.Ser17813=) c.53436C>T (p.Ser17812=) c.52869C>T (p.Ser17623=) c.50211C>T (p.Ser16737=) c.50130C>T (p.Ser16710=) c.31893C>T (p.Ser10631=) c.21747C>T (p.Ser7249=) | |
2 | g.178593210G>C | CA349500045 | TTN,TTN-AS1 | c.51294C>G (p.Ser17098Arg) c.32379C>G (p.Ser10793Arg) c.32178C>G (p.Ser10726Arg) c.31803C>G (p.Ser10601Arg) c.58998C>G (p.Ser19666Arg) c.54075C>G (p.Ser18025Arg) n.597-4386G>C n.3364+1896G>C c.58095C>G (p.Ser19365Arg) c.31989C>G (p.Ser10663Arg) c.31848C>G (p.Ser10616Arg) c.57891C>G (p.Ser19297Arg) c.53289C>G (p.Ser17763Arg) c.53286C>G (p.Ser17762Arg) c.50328C>G (p.Ser16776Arg) c.31944C>G (p.Ser10648Arg) c.53439C>G (p.Ser17813Arg) c.53436C>G (p.Ser17812Arg) c.52869C>G (p.Ser17623Arg) c.50211C>G (p.Ser16737Arg) c.50130C>G (p.Ser16710Arg) c.31893C>G (p.Ser10631Arg) c.21747C>G (p.Ser7249Arg) | |
2 | g.178593210G>T | CA349500044 | TTN,TTN-AS1 | c.51294C>A (p.Ser17098Arg) c.32379C>A (p.Ser10793Arg) c.32178C>A (p.Ser10726Arg) c.31803C>A (p.Ser10601Arg) c.58998C>A (p.Ser19666Arg) c.54075C>A (p.Ser18025Arg) n.597-4386G>T n.3364+1896G>T c.58095C>A (p.Ser19365Arg) c.31989C>A (p.Ser10663Arg) c.31848C>A (p.Ser10616Arg) c.57891C>A (p.Ser19297Arg) c.53289C>A (p.Ser17763Arg) c.53286C>A (p.Ser17762Arg) c.50328C>A (p.Ser16776Arg) c.31944C>A (p.Ser10648Arg) c.53439C>A (p.Ser17813Arg) c.53436C>A (p.Ser17812Arg) c.52869C>A (p.Ser17623Arg) c.50211C>A (p.Ser16737Arg) c.50130C>A (p.Ser16710Arg) c.31893C>A (p.Ser10631Arg) c.21747C>A (p.Ser7249Arg) | |
2 | g.178593211C>A | CA349500046 | TTN,TTN-AS1 | c.51293G>T (p.Ser17098Ile) c.32378G>T (p.Ser10793Ile) c.32177G>T (p.Ser10726Ile) c.31802G>T (p.Ser10601Ile) c.58997G>T (p.Ser19666Ile) c.54074G>T (p.Ser18025Ile) n.597-4385C>A n.3364+1897C>A c.58094G>T (p.Ser19365Ile) c.31988G>T (p.Ser10663Ile) c.31847G>T (p.Ser10616Ile) c.57890G>T (p.Ser19297Ile) c.53288G>T (p.Ser17763Ile) c.53285G>T (p.Ser17762Ile) c.50327G>T (p.Ser16776Ile) c.31943G>T (p.Ser10648Ile) c.53438G>T (p.Ser17813Ile) c.53435G>T (p.Ser17812Ile) c.52868G>T (p.Ser17623Ile) c.50210G>T (p.Ser16737Ile) c.50129G>T (p.Ser16710Ile) c.31892G>T (p.Ser10631Ile) c.21746G>T (p.Ser7249Ile) | |
2 | g.178593211C>G | CA349500047 | TTN,TTN-AS1 | c.51293G>C (p.Ser17098Thr) c.32378G>C (p.Ser10793Thr) c.32177G>C (p.Ser10726Thr) c.31802G>C (p.Ser10601Thr) c.58997G>C (p.Ser19666Thr) c.54074G>C (p.Ser18025Thr) n.597-4385C>G n.3364+1897C>G c.58094G>C (p.Ser19365Thr) c.31988G>C (p.Ser10663Thr) c.31847G>C (p.Ser10616Thr) c.57890G>C (p.Ser19297Thr) c.53288G>C (p.Ser17763Thr) c.53285G>C (p.Ser17762Thr) c.50327G>C (p.Ser16776Thr) c.31943G>C (p.Ser10648Thr) c.53438G>C (p.Ser17813Thr) c.53435G>C (p.Ser17812Thr) c.52868G>C (p.Ser17623Thr) c.50210G>C (p.Ser16737Thr) c.50129G>C (p.Ser16710Thr) c.31892G>C (p.Ser10631Thr) c.21746G>C (p.Ser7249Thr) | gnomAD v4 |
2 | g.178593211C>T | CA349500051 | TTN,TTN-AS1 | c.51293G>A (p.Ser17098Asn) c.32378G>A (p.Ser10793Asn) c.32177G>A (p.Ser10726Asn) c.31802G>A (p.Ser10601Asn) c.58997G>A (p.Ser19666Asn) c.54074G>A (p.Ser18025Asn) n.597-4385C>T n.3364+1897C>T c.58094G>A (p.Ser19365Asn) c.31988G>A (p.Ser10663Asn) c.31847G>A (p.Ser10616Asn) c.57890G>A (p.Ser19297Asn) c.53288G>A (p.Ser17763Asn) c.53285G>A (p.Ser17762Asn) c.50327G>A (p.Ser16776Asn) c.31943G>A (p.Ser10648Asn) c.53438G>A (p.Ser17813Asn) c.53435G>A (p.Ser17812Asn) c.52868G>A (p.Ser17623Asn) c.50210G>A (p.Ser16737Asn) c.50129G>A (p.Ser16710Asn) c.31892G>A (p.Ser10631Asn) c.21746G>A (p.Ser7249Asn) | |
2 | g.178593212T>A | CA349500052 | TTN,TTN-AS1 | c.51292A>T (p.Ser17098Cys) c.32377A>T (p.Ser10793Cys) c.32176A>T (p.Ser10726Cys) c.31801A>T (p.Ser10601Cys) c.58996A>T (p.Ser19666Cys) c.54073A>T (p.Ser18025Cys) n.597-4384T>A n.3364+1898T>A c.58093A>T (p.Ser19365Cys) c.31987A>T (p.Ser10663Cys) c.31846A>T (p.Ser10616Cys) c.57889A>T (p.Ser19297Cys) c.53287A>T (p.Ser17763Cys) c.53284A>T (p.Ser17762Cys) c.50326A>T (p.Ser16776Cys) c.31942A>T (p.Ser10648Cys) c.53437A>T (p.Ser17813Cys) c.53434A>T (p.Ser17812Cys) c.52867A>T (p.Ser17623Cys) c.50209A>T (p.Ser16737Cys) c.50128A>T (p.Ser16710Cys) c.31891A>T (p.Ser10631Cys) c.21745A>T (p.Ser7249Cys) | |
2 | g.178593212T>C | CA1992745 | TTN,TTN-AS1 | c.51292A>G (p.Ser17098Gly) c.32377A>G (p.Ser10793Gly) c.32176A>G (p.Ser10726Gly) c.31801A>G (p.Ser10601Gly) c.58996A>G (p.Ser19666Gly) c.54073A>G (p.Ser18025Gly) n.597-4384T>C n.3364+1898T>C c.58093A>G (p.Ser19365Gly) c.31987A>G (p.Ser10663Gly) c.31846A>G (p.Ser10616Gly) c.57889A>G (p.Ser19297Gly) c.53287A>G (p.Ser17763Gly) c.53284A>G (p.Ser17762Gly) c.50326A>G (p.Ser16776Gly) c.31942A>G (p.Ser10648Gly) c.53437A>G (p.Ser17813Gly) c.53434A>G (p.Ser17812Gly) c.52867A>G (p.Ser17623Gly) c.50209A>G (p.Ser16737Gly) c.50128A>G (p.Ser16710Gly) c.31891A>G (p.Ser10631Gly) c.21745A>G (p.Ser7249Gly) | dbSNP ExAC gnomAD v2 |
2 | g.178593212T>G | CA1992744 | TTN,TTN-AS1 | c.51292A>C (p.Ser17098Arg) c.32377A>C (p.Ser10793Arg) c.32176A>C (p.Ser10726Arg) c.31801A>C (p.Ser10601Arg) c.58996A>C (p.Ser19666Arg) c.54073A>C (p.Ser18025Arg) n.597-4384T>G n.3364+1898T>G c.58093A>C (p.Ser19365Arg) c.31987A>C (p.Ser10663Arg) c.31846A>C (p.Ser10616Arg) c.57889A>C (p.Ser19297Arg) c.53287A>C (p.Ser17763Arg) c.53284A>C (p.Ser17762Arg) c.50326A>C (p.Ser16776Arg) c.31942A>C (p.Ser10648Arg) c.53437A>C (p.Ser17813Arg) c.53434A>C (p.Ser17812Arg) c.52867A>C (p.Ser17623Arg) c.50209A>C (p.Ser16737Arg) c.50128A>C (p.Ser16710Arg) c.31891A>C (p.Ser10631Arg) c.21745A>C (p.Ser7249Arg) | dbSNP ExAC gnomAD v2 |
2 | g.178593212T= | CA1310540426 | TTN,TTN-AS1 | c.51292A= (p.Ser17098=) c.32377A= (p.Ser10793=) c.32176A= (p.Ser10726=) c.31801A= (p.Ser10601=) c.58996A= (p.Ser19666=) c.54073A= (p.Ser18025=) n.597-4384T= n.3364+1898T= c.58093A= (p.Ser19365=) c.31987A= (p.Ser10663=) c.31846A= (p.Ser10616=) c.57889A= (p.Ser19297=) c.53287A= (p.Ser17763=) c.53284A= (p.Ser17762=) c.50326A= (p.Ser16776=) c.31942A= (p.Ser10648=) c.53437A= (p.Ser17813=) c.53434A= (p.Ser17812=) c.52867A= (p.Ser17623=) c.50209A= (p.Ser16737=) c.50128A= (p.Ser16710=) c.31891A= (p.Ser10631=) c.21745A= (p.Ser7249=) | |
2 | g.178593213T>A | CA430267361 | TTN,TTN-AS1 | c.51291A>T (p.Pro17097=) c.32376A>T (p.Pro10792=) c.32175A>T (p.Pro10725=) c.31800A>T (p.Pro10600=) c.58995A>T (p.Pro19665=) c.54072A>T (p.Pro18024=) n.597-4383T>A n.3364+1899T>A c.58092A>T (p.Pro19364=) c.31986A>T (p.Pro10662=) c.31845A>T (p.Pro10615=) c.57888A>T (p.Pro19296=) c.53286A>T (p.Pro17762=) c.53283A>T (p.Pro17761=) c.50325A>T (p.Pro16775=) c.31941A>T (p.Pro10647=) c.53436A>T (p.Pro17812=) c.53433A>T (p.Pro17811=) c.52866A>T (p.Pro17622=) c.50208A>T (p.Pro16736=) c.50127A>T (p.Pro16709=) c.31890A>T (p.Pro10630=) c.21744A>T (p.Pro7248=) | |
2 | g.178593213T>C | CA430267360 | TTN,TTN-AS1 | c.51291A>G (p.Pro17097=) c.32376A>G (p.Pro10792=) c.32175A>G (p.Pro10725=) c.31800A>G (p.Pro10600=) c.58995A>G (p.Pro19665=) c.54072A>G (p.Pro18024=) n.597-4383T>C n.3364+1899T>C c.58092A>G (p.Pro19364=) c.31986A>G (p.Pro10662=) c.31845A>G (p.Pro10615=) c.57888A>G (p.Pro19296=) c.53286A>G (p.Pro17762=) c.53283A>G (p.Pro17761=) c.50325A>G (p.Pro16775=) c.31941A>G (p.Pro10647=) c.53436A>G (p.Pro17812=) c.53433A>G (p.Pro17811=) c.52866A>G (p.Pro17622=) c.50208A>G (p.Pro16736=) c.50127A>G (p.Pro16709=) c.31890A>G (p.Pro10630=) c.21744A>G (p.Pro7248=) | ClinVar |
2 | g.178593213T>G | CA430267359 | TTN,TTN-AS1 | c.51291A>C (p.Pro17097=) c.32376A>C (p.Pro10792=) c.32175A>C (p.Pro10725=) c.31800A>C (p.Pro10600=) c.58995A>C (p.Pro19665=) c.54072A>C (p.Pro18024=) n.597-4383T>G n.3364+1899T>G c.58092A>C (p.Pro19364=) c.31986A>C (p.Pro10662=) c.31845A>C (p.Pro10615=) c.57888A>C (p.Pro19296=) c.53286A>C (p.Pro17762=) c.53283A>C (p.Pro17761=) c.50325A>C (p.Pro16775=) c.31941A>C (p.Pro10647=) c.53436A>C (p.Pro17812=) c.53433A>C (p.Pro17811=) c.52866A>C (p.Pro17622=) c.50208A>C (p.Pro16736=) c.50127A>C (p.Pro16709=) c.31890A>C (p.Pro10630=) c.21744A>C (p.Pro7248=) | |
2 | g.178593214G>A | CA349500055 | TTN,TTN-AS1 | c.51290C>T (p.Pro17097Leu) c.32375C>T (p.Pro10792Leu) c.32174C>T (p.Pro10725Leu) c.31799C>T (p.Pro10600Leu) c.58994C>T (p.Pro19665Leu) c.54071C>T (p.Pro18024Leu) n.597-4382G>A n.3364+1900G>A c.58091C>T (p.Pro19364Leu) c.31985C>T (p.Pro10662Leu) c.31844C>T (p.Pro10615Leu) c.57887C>T (p.Pro19296Leu) c.53285C>T (p.Pro17762Leu) c.53282C>T (p.Pro17761Leu) c.50324C>T (p.Pro16775Leu) c.31940C>T (p.Pro10647Leu) c.53435C>T (p.Pro17812Leu) c.53432C>T (p.Pro17811Leu) c.52865C>T (p.Pro17622Leu) c.50207C>T (p.Pro16736Leu) c.50126C>T (p.Pro16709Leu) c.31889C>T (p.Pro10630Leu) c.21743C>T (p.Pro7248Leu) | |
2 | g.178593214G>C | CA349500058 | TTN,TTN-AS1 | c.51290C>G (p.Pro17097Arg) c.32375C>G (p.Pro10792Arg) c.32174C>G (p.Pro10725Arg) c.31799C>G (p.Pro10600Arg) c.58994C>G (p.Pro19665Arg) c.54071C>G (p.Pro18024Arg) n.597-4382G>C n.3364+1900G>C c.58091C>G (p.Pro19364Arg) c.31985C>G (p.Pro10662Arg) c.31844C>G (p.Pro10615Arg) c.57887C>G (p.Pro19296Arg) c.53285C>G (p.Pro17762Arg) c.53282C>G (p.Pro17761Arg) c.50324C>G (p.Pro16775Arg) c.31940C>G (p.Pro10647Arg) c.53435C>G (p.Pro17812Arg) c.53432C>G (p.Pro17811Arg) c.52865C>G (p.Pro17622Arg) c.50207C>G (p.Pro16736Arg) c.50126C>G (p.Pro16709Arg) c.31889C>G (p.Pro10630Arg) c.21743C>G (p.Pro7248Arg) | |
2 | g.178593214G>T | CA349500061 | TTN,TTN-AS1 | c.51290C>A (p.Pro17097Gln) c.32375C>A (p.Pro10792Gln) c.32174C>A (p.Pro10725Gln) c.31799C>A (p.Pro10600Gln) c.58994C>A (p.Pro19665Gln) c.54071C>A (p.Pro18024Gln) n.597-4382G>T n.3364+1900G>T c.58091C>A (p.Pro19364Gln) c.31985C>A (p.Pro10662Gln) c.31844C>A (p.Pro10615Gln) c.57887C>A (p.Pro19296Gln) c.53285C>A (p.Pro17762Gln) c.53282C>A (p.Pro17761Gln) c.50324C>A (p.Pro16775Gln) c.31940C>A (p.Pro10647Gln) c.53435C>A (p.Pro17812Gln) c.53432C>A (p.Pro17811Gln) c.52865C>A (p.Pro17622Gln) c.50207C>A (p.Pro16736Gln) c.50126C>A (p.Pro16709Gln) c.31889C>A (p.Pro10630Gln) c.21743C>A (p.Pro7248Gln) | |
2 | g.178593215G>A | CA349500066 | TTN,TTN-AS1 | c.51289C>T (p.Pro17097Ser) c.32374C>T (p.Pro10792Ser) c.32173C>T (p.Pro10725Ser) c.31798C>T (p.Pro10600Ser) c.58993C>T (p.Pro19665Ser) c.54070C>T (p.Pro18024Ser) n.597-4381G>A n.3364+1901G>A c.58090C>T (p.Pro19364Ser) c.31984C>T (p.Pro10662Ser) c.31843C>T (p.Pro10615Ser) c.57886C>T (p.Pro19296Ser) c.53284C>T (p.Pro17762Ser) c.53281C>T (p.Pro17761Ser) c.50323C>T (p.Pro16775Ser) c.31939C>T (p.Pro10647Ser) c.53434C>T (p.Pro17812Ser) c.53431C>T (p.Pro17811Ser) c.52864C>T (p.Pro17622Ser) c.50206C>T (p.Pro16736Ser) c.50125C>T (p.Pro16709Ser) c.31888C>T (p.Pro10630Ser) c.21742C>T (p.Pro7248Ser) | |
2 | g.178593215G>C | CA349500067 | TTN,TTN-AS1 | c.51289C>G (p.Pro17097Ala) c.32374C>G (p.Pro10792Ala) c.32173C>G (p.Pro10725Ala) c.31798C>G (p.Pro10600Ala) c.58993C>G (p.Pro19665Ala) c.54070C>G (p.Pro18024Ala) n.597-4381G>C n.3364+1901G>C c.58090C>G (p.Pro19364Ala) c.31984C>G (p.Pro10662Ala) c.31843C>G (p.Pro10615Ala) c.57886C>G (p.Pro19296Ala) c.53284C>G (p.Pro17762Ala) c.53281C>G (p.Pro17761Ala) c.50323C>G (p.Pro16775Ala) c.31939C>G (p.Pro10647Ala) c.53434C>G (p.Pro17812Ala) c.53431C>G (p.Pro17811Ala) c.52864C>G (p.Pro17622Ala) c.50206C>G (p.Pro16736Ala) c.50125C>G (p.Pro16709Ala) c.31888C>G (p.Pro10630Ala) c.21742C>G (p.Pro7248Ala) | |
2 | g.178593215G>T | CA349500070 | TTN,TTN-AS1 | c.51289C>A (p.Pro17097Thr) c.32374C>A (p.Pro10792Thr) c.32173C>A (p.Pro10725Thr) c.31798C>A (p.Pro10600Thr) c.58993C>A (p.Pro19665Thr) c.54070C>A (p.Pro18024Thr) n.597-4381G>T n.3364+1901G>T c.58090C>A (p.Pro19364Thr) c.31984C>A (p.Pro10662Thr) c.31843C>A (p.Pro10615Thr) c.57886C>A (p.Pro19296Thr) c.53284C>A (p.Pro17762Thr) c.53281C>A (p.Pro17761Thr) c.50323C>A (p.Pro16775Thr) c.31939C>A (p.Pro10647Thr) c.53434C>A (p.Pro17812Thr) c.53431C>A (p.Pro17811Thr) c.52864C>A (p.Pro17622Thr) c.50206C>A (p.Pro16736Thr) c.50125C>A (p.Pro16709Thr) c.31888C>A (p.Pro10630Thr) c.21742C>A (p.Pro7248Thr) | |
2 | g.178593216A= | CA1310540428 | TTN,TTN-AS1 | c.51288T= (p.Asp17096=) c.32373T= (p.Asp10791=) c.32172T= (p.Asp10724=) c.31797T= (p.Asp10599=) c.58992T= (p.Asp19664=) c.54069T= (p.Asp18023=) n.597-4380A= n.3364+1902A= c.58089T= (p.Asp19363=) c.31983T= (p.Asp10661=) c.31842T= (p.Asp10614=) c.57885T= (p.Asp19295=) c.53283T= (p.Asp17761=) c.53280T= (p.Asp17760=) c.50322T= (p.Asp16774=) c.31938T= (p.Asp10646=) c.53433T= (p.Asp17811=) c.53430T= (p.Asp17810=) c.52863T= (p.Asp17621=) c.50205T= (p.Asp16735=) c.50124T= (p.Asp16708=) c.31887T= (p.Asp10629=) c.21741T= (p.Asp7247=) | |
2 | g.178593216A>C | CA349500072 | TTN,TTN-AS1 | c.51288T>G (p.Asp17096Glu) c.32373T>G (p.Asp10791Glu) c.32172T>G (p.Asp10724Glu) c.31797T>G (p.Asp10599Glu) c.58992T>G (p.Asp19664Glu) c.54069T>G (p.Asp18023Glu) n.597-4380A>C n.3364+1902A>C c.58089T>G (p.Asp19363Glu) c.31983T>G (p.Asp10661Glu) c.31842T>G (p.Asp10614Glu) c.57885T>G (p.Asp19295Glu) c.53283T>G (p.Asp17761Glu) c.53280T>G (p.Asp17760Glu) c.50322T>G (p.Asp16774Glu) c.31938T>G (p.Asp10646Glu) c.53433T>G (p.Asp17811Glu) c.53430T>G (p.Asp17810Glu) c.52863T>G (p.Asp17621Glu) c.50205T>G (p.Asp16735Glu) c.50124T>G (p.Asp16708Glu) c.31887T>G (p.Asp10629Glu) c.21741T>G (p.Asp7247Glu) | |
2 | g.178593216A>G | CA430267365 | TTN,TTN-AS1 | c.51288T>C (p.Asp17096=) c.32373T>C (p.Asp10791=) c.32172T>C (p.Asp10724=) c.31797T>C (p.Asp10599=) c.58992T>C (p.Asp19664=) c.54069T>C (p.Asp18023=) n.597-4380A>G n.3364+1902A>G c.58089T>C (p.Asp19363=) c.31983T>C (p.Asp10661=) c.31842T>C (p.Asp10614=) c.57885T>C (p.Asp19295=) c.53283T>C (p.Asp17761=) c.53280T>C (p.Asp17760=) c.50322T>C (p.Asp16774=) c.31938T>C (p.Asp10646=) c.53433T>C (p.Asp17811=) c.53430T>C (p.Asp17810=) c.52863T>C (p.Asp17621=) c.50205T>C (p.Asp16735=) c.50124T>C (p.Asp16708=) c.31887T>C (p.Asp10629=) c.21741T>C (p.Asp7247=) | |
2 | g.178593216A>T | CA1992746 | TTN,TTN-AS1 | c.51288T>A (p.Asp17096Glu) c.32373T>A (p.Asp10791Glu) c.32172T>A (p.Asp10724Glu) c.31797T>A (p.Asp10599Glu) c.58992T>A (p.Asp19664Glu) c.54069T>A (p.Asp18023Glu) n.597-4380A>T n.3364+1902A>T c.58089T>A (p.Asp19363Glu) c.31983T>A (p.Asp10661Glu) c.31842T>A (p.Asp10614Glu) c.57885T>A (p.Asp19295Glu) c.53283T>A (p.Asp17761Glu) c.53280T>A (p.Asp17760Glu) c.50322T>A (p.Asp16774Glu) c.31938T>A (p.Asp10646Glu) c.53433T>A (p.Asp17811Glu) c.53430T>A (p.Asp17810Glu) c.52863T>A (p.Asp17621Glu) c.50205T>A (p.Asp16735Glu) c.50124T>A (p.Asp16708Glu) c.31887T>A (p.Asp10629Glu) c.21741T>A (p.Asp7247Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178593217T>A | CA349500089 | TTN,TTN-AS1 | c.51287A>T (p.Asp17096Val) c.32372A>T (p.Asp10791Val) c.32171A>T (p.Asp10724Val) c.31796A>T (p.Asp10599Val) c.58991A>T (p.Asp19664Val) c.54068A>T (p.Asp18023Val) n.597-4379T>A n.3364+1903T>A c.58088A>T (p.Asp19363Val) c.31982A>T (p.Asp10661Val) c.31841A>T (p.Asp10614Val) c.57884A>T (p.Asp19295Val) c.53282A>T (p.Asp17761Val) c.53279A>T (p.Asp17760Val) c.50321A>T (p.Asp16774Val) c.31937A>T (p.Asp10646Val) c.53432A>T (p.Asp17811Val) c.53429A>T (p.Asp17810Val) c.52862A>T (p.Asp17621Val) c.50204A>T (p.Asp16735Val) c.50123A>T (p.Asp16708Val) c.31886A>T (p.Asp10629Val) c.21740A>T (p.Asp7247Val) | |
2 | g.178593217T>C | CA349500090 | TTN,TTN-AS1 | c.51287A>G (p.Asp17096Gly) c.32372A>G (p.Asp10791Gly) c.32171A>G (p.Asp10724Gly) c.31796A>G (p.Asp10599Gly) c.58991A>G (p.Asp19664Gly) c.54068A>G (p.Asp18023Gly) n.597-4379T>C n.3364+1903T>C c.58088A>G (p.Asp19363Gly) c.31982A>G (p.Asp10661Gly) c.31841A>G (p.Asp10614Gly) c.57884A>G (p.Asp19295Gly) c.53282A>G (p.Asp17761Gly) c.53279A>G (p.Asp17760Gly) c.50321A>G (p.Asp16774Gly) c.31937A>G (p.Asp10646Gly) c.53432A>G (p.Asp17811Gly) c.53429A>G (p.Asp17810Gly) c.52862A>G (p.Asp17621Gly) c.50204A>G (p.Asp16735Gly) c.50123A>G (p.Asp16708Gly) c.31886A>G (p.Asp10629Gly) c.21740A>G (p.Asp7247Gly) | |
2 | g.178593217T>G | CA349500091 | TTN,TTN-AS1 | c.51287A>C (p.Asp17096Ala) c.32372A>C (p.Asp10791Ala) c.32171A>C (p.Asp10724Ala) c.31796A>C (p.Asp10599Ala) c.58991A>C (p.Asp19664Ala) c.54068A>C (p.Asp18023Ala) n.597-4379T>G n.3364+1903T>G c.58088A>C (p.Asp19363Ala) c.31982A>C (p.Asp10661Ala) c.31841A>C (p.Asp10614Ala) c.57884A>C (p.Asp19295Ala) c.53282A>C (p.Asp17761Ala) c.53279A>C (p.Asp17760Ala) c.50321A>C (p.Asp16774Ala) c.31937A>C (p.Asp10646Ala) c.53432A>C (p.Asp17811Ala) c.53429A>C (p.Asp17810Ala) c.52862A>C (p.Asp17621Ala) c.50204A>C (p.Asp16735Ala) c.50123A>C (p.Asp16708Ala) c.31886A>C (p.Asp10629Ala) c.21740A>C (p.Asp7247Ala) | |
2 | g.178593218C>A | CA349500092 | TTN,TTN-AS1 | c.51286G>T (p.Asp17096Tyr) c.32371G>T (p.Asp10791Tyr) c.32170G>T (p.Asp10724Tyr) c.31795G>T (p.Asp10599Tyr) c.58990G>T (p.Asp19664Tyr) c.54067G>T (p.Asp18023Tyr) n.597-4378C>A n.3364+1904C>A c.58087G>T (p.Asp19363Tyr) c.31981G>T (p.Asp10661Tyr) c.31840G>T (p.Asp10614Tyr) c.57883G>T (p.Asp19295Tyr) c.53281G>T (p.Asp17761Tyr) c.53278G>T (p.Asp17760Tyr) c.50320G>T (p.Asp16774Tyr) c.31936G>T (p.Asp10646Tyr) c.53431G>T (p.Asp17811Tyr) c.53428G>T (p.Asp17810Tyr) c.52861G>T (p.Asp17621Tyr) c.50203G>T (p.Asp16735Tyr) c.50122G>T (p.Asp16708Tyr) c.31885G>T (p.Asp10629Tyr) c.21739G>T (p.Asp7247Tyr) | |
2 | g.178593218C= | CA1310540431 | TTN,TTN-AS1 | c.51286G= (p.Asp17096=) c.32371G= (p.Asp10791=) c.32170G= (p.Asp10724=) c.31795G= (p.Asp10599=) c.58990G= (p.Asp19664=) c.54067G= (p.Asp18023=) n.597-4378C= n.3364+1904C= c.58087G= (p.Asp19363=) c.31981G= (p.Asp10661=) c.31840G= (p.Asp10614=) c.57883G= (p.Asp19295=) c.53281G= (p.Asp17761=) c.53278G= (p.Asp17760=) c.50320G= (p.Asp16774=) c.31936G= (p.Asp10646=) c.53431G= (p.Asp17811=) c.53428G= (p.Asp17810=) c.52861G= (p.Asp17621=) c.50203G= (p.Asp16735=) c.50122G= (p.Asp16708=) c.31885G= (p.Asp10629=) c.21739G= (p.Asp7247=) | |
2 | g.178593218C>G | CA349500093 | TTN,TTN-AS1 | c.51286G>C (p.Asp17096His) c.32371G>C (p.Asp10791His) c.32170G>C (p.Asp10724His) c.31795G>C (p.Asp10599His) c.58990G>C (p.Asp19664His) c.54067G>C (p.Asp18023His) n.597-4378C>G n.3364+1904C>G c.58087G>C (p.Asp19363His) c.31981G>C (p.Asp10661His) c.31840G>C (p.Asp10614His) c.57883G>C (p.Asp19295His) c.53281G>C (p.Asp17761His) c.53278G>C (p.Asp17760His) c.50320G>C (p.Asp16774His) c.31936G>C (p.Asp10646His) c.53431G>C (p.Asp17811His) c.53428G>C (p.Asp17810His) c.52861G>C (p.Asp17621His) c.50203G>C (p.Asp16735His) c.50122G>C (p.Asp16708His) c.31885G>C (p.Asp10629His) c.21739G>C (p.Asp7247His) | |
2 | g.178593218C>T | CA60971207 | TTN,TTN-AS1 | c.51286G>A (p.Asp17096Asn) c.32371G>A (p.Asp10791Asn) c.32170G>A (p.Asp10724Asn) c.31795G>A (p.Asp10599Asn) c.58990G>A (p.Asp19664Asn) c.54067G>A (p.Asp18023Asn) n.597-4378C>T n.3364+1904C>T c.58087G>A (p.Asp19363Asn) c.31981G>A (p.Asp10661Asn) c.31840G>A (p.Asp10614Asn) c.57883G>A (p.Asp19295Asn) c.53281G>A (p.Asp17761Asn) c.53278G>A (p.Asp17760Asn) c.50320G>A (p.Asp16774Asn) c.31936G>A (p.Asp10646Asn) c.53431G>A (p.Asp17811Asn) c.53428G>A (p.Asp17810Asn) c.52861G>A (p.Asp17621Asn) c.50203G>A (p.Asp16735Asn) c.50122G>A (p.Asp16708Asn) c.31885G>A (p.Asp10629Asn) c.21739G>A (p.Asp7247Asn) | dbSNP gnomAD v4 |
2 | g.178593219T>A | CA430267367 | TTN,TTN-AS1 | c.51285A>T (p.Gly17095=) c.32370A>T (p.Gly10790=) c.32169A>T (p.Gly10723=) c.31794A>T (p.Gly10598=) c.58989A>T (p.Gly19663=) c.54066A>T (p.Gly18022=) n.597-4377T>A n.3364+1905T>A c.58086A>T (p.Gly19362=) c.31980A>T (p.Gly10660=) c.31839A>T (p.Gly10613=) c.57882A>T (p.Gly19294=) c.53280A>T (p.Gly17760=) c.53277A>T (p.Gly17759=) c.50319A>T (p.Gly16773=) c.31935A>T (p.Gly10645=) c.53430A>T (p.Gly17810=) c.53427A>T (p.Gly17809=) c.52860A>T (p.Gly17620=) c.50202A>T (p.Gly16734=) c.50121A>T (p.Gly16707=) c.31884A>T (p.Gly10628=) c.21738A>T (p.Gly7246=) | |
2 | g.178593219T>C | CA430267369 | TTN,TTN-AS1 | c.51285A>G (p.Gly17095=) c.32370A>G (p.Gly10790=) c.32169A>G (p.Gly10723=) c.31794A>G (p.Gly10598=) c.58989A>G (p.Gly19663=) c.54066A>G (p.Gly18022=) n.597-4377T>C n.3364+1905T>C c.58086A>G (p.Gly19362=) c.31980A>G (p.Gly10660=) c.31839A>G (p.Gly10613=) c.57882A>G (p.Gly19294=) c.53280A>G (p.Gly17760=) c.53277A>G (p.Gly17759=) c.50319A>G (p.Gly16773=) c.31935A>G (p.Gly10645=) c.53430A>G (p.Gly17810=) c.53427A>G (p.Gly17809=) c.52860A>G (p.Gly17620=) c.50202A>G (p.Gly16734=) c.50121A>G (p.Gly16707=) c.31884A>G (p.Gly10628=) c.21738A>G (p.Gly7246=) | |
2 | g.178593219T>G | CA430267368 | TTN,TTN-AS1 | c.51285A>C (p.Gly17095=) c.32370A>C (p.Gly10790=) c.32169A>C (p.Gly10723=) c.31794A>C (p.Gly10598=) c.58989A>C (p.Gly19663=) c.54066A>C (p.Gly18022=) n.597-4377T>G n.3364+1905T>G c.58086A>C (p.Gly19362=) c.31980A>C (p.Gly10660=) c.31839A>C (p.Gly10613=) c.57882A>C (p.Gly19294=) c.53280A>C (p.Gly17760=) c.53277A>C (p.Gly17759=) c.50319A>C (p.Gly16773=) c.31935A>C (p.Gly10645=) c.53430A>C (p.Gly17810=) c.53427A>C (p.Gly17809=) c.52860A>C (p.Gly17620=) c.50202A>C (p.Gly16734=) c.50121A>C (p.Gly16707=) c.31884A>C (p.Gly10628=) c.21738A>C (p.Gly7246=) | |
2 | g.178593220C>A | CA349500095 | TTN,TTN-AS1 | c.51284G>T (p.Gly17095Val) c.32369G>T (p.Gly10790Val) c.32168G>T (p.Gly10723Val) c.31793G>T (p.Gly10598Val) c.58988G>T (p.Gly19663Val) c.54065G>T (p.Gly18022Val) n.597-4376C>A n.3364+1906C>A c.58085G>T (p.Gly19362Val) c.31979G>T (p.Gly10660Val) c.31838G>T (p.Gly10613Val) c.57881G>T (p.Gly19294Val) c.53279G>T (p.Gly17760Val) c.53276G>T (p.Gly17759Val) c.50318G>T (p.Gly16773Val) c.31934G>T (p.Gly10645Val) c.53429G>T (p.Gly17810Val) c.53426G>T (p.Gly17809Val) c.52859G>T (p.Gly17620Val) c.50201G>T (p.Gly16734Val) c.50120G>T (p.Gly16707Val) c.31883G>T (p.Gly10628Val) c.21737G>T (p.Gly7246Val) | |
2 | g.178593220C>G | CA349500099 | TTN,TTN-AS1 | c.51284G>C (p.Gly17095Ala) c.32369G>C (p.Gly10790Ala) c.32168G>C (p.Gly10723Ala) c.31793G>C (p.Gly10598Ala) c.58988G>C (p.Gly19663Ala) c.54065G>C (p.Gly18022Ala) n.597-4376C>G n.3364+1906C>G c.58085G>C (p.Gly19362Ala) c.31979G>C (p.Gly10660Ala) c.31838G>C (p.Gly10613Ala) c.57881G>C (p.Gly19294Ala) c.53279G>C (p.Gly17760Ala) c.53276G>C (p.Gly17759Ala) c.50318G>C (p.Gly16773Ala) c.31934G>C (p.Gly10645Ala) c.53429G>C (p.Gly17810Ala) c.53426G>C (p.Gly17809Ala) c.52859G>C (p.Gly17620Ala) c.50201G>C (p.Gly16734Ala) c.50120G>C (p.Gly16707Ala) c.31883G>C (p.Gly10628Ala) c.21737G>C (p.Gly7246Ala) | |
2 | g.178593220C>T | CA349500102 | TTN,TTN-AS1 | c.51284G>A (p.Gly17095Glu) c.32369G>A (p.Gly10790Glu) c.32168G>A (p.Gly10723Glu) c.31793G>A (p.Gly10598Glu) c.58988G>A (p.Gly19663Glu) c.54065G>A (p.Gly18022Glu) n.597-4376C>T n.3364+1906C>T c.58085G>A (p.Gly19362Glu) c.31979G>A (p.Gly10660Glu) c.31838G>A (p.Gly10613Glu) c.57881G>A (p.Gly19294Glu) c.53279G>A (p.Gly17760Glu) c.53276G>A (p.Gly17759Glu) c.50318G>A (p.Gly16773Glu) c.31934G>A (p.Gly10645Glu) c.53429G>A (p.Gly17810Glu) c.53426G>A (p.Gly17809Glu) c.52859G>A (p.Gly17620Glu) c.50201G>A (p.Gly16734Glu) c.50120G>A (p.Gly16707Glu) c.31883G>A (p.Gly10628Glu) c.21737G>A (p.Gly7246Glu) | gnomAD v4 |
2 | g.178593221dup | CA2839569670 | TTN,TTN-AS1 | c.51284dup (p.Asp17096ArgfsTer12) c.32369dup (p.Asp10791ArgfsTer12) c.32168dup (p.Asp10724ArgfsTer12) c.31793dup (p.Asp10599ArgfsTer12) c.58988dup (p.Asp19664ArgfsTer12) c.54065dup (p.Asp18023ArgfsTer12) n.597-4375dup n.3364+1907dup c.58085dup (p.Asp19363ArgfsTer12) c.31979dup (p.Asp10661ArgfsTer12) c.31838dup (p.Asp10614ArgfsTer12) c.57881dup (p.Asp19295ArgfsTer12) c.53279dup (p.Asp17761ArgfsTer12) c.53276dup (p.Asp17760ArgfsTer12) c.50318dup (p.Asp16774ArgfsTer12) c.31934dup (p.Asp10646ArgfsTer12) c.53429dup (p.Asp17811ArgfsTer12) c.53426dup (p.Asp17810ArgfsTer12) c.52859dup (p.Asp17621ArgfsTer12) c.50201dup (p.Asp16735ArgfsTer12) c.50120dup (p.Asp16708ArgfsTer12) c.31883dup (p.Asp10629ArgfsTer12) c.21737dup (p.Asp7247ArgfsTer12) | |
2 | g.178593221C>A | CA349500105 | TTN,TTN-AS1 | c.51283G>T (p.Gly17095Ter) c.32368G>T (p.Gly10790Ter) c.32167G>T (p.Gly10723Ter) c.31792G>T (p.Gly10598Ter) c.58987G>T (p.Gly19663Ter) c.54064G>T (p.Gly18022Ter) n.597-4375C>A n.3364+1907C>A c.58084G>T (p.Gly19362Ter) c.31978G>T (p.Gly10660Ter) c.31837G>T (p.Gly10613Ter) c.57880G>T (p.Gly19294Ter) c.53278G>T (p.Gly17760Ter) c.53275G>T (p.Gly17759Ter) c.50317G>T (p.Gly16773Ter) c.31933G>T (p.Gly10645Ter) c.53428G>T (p.Gly17810Ter) c.53425G>T (p.Gly17809Ter) c.52858G>T (p.Gly17620Ter) c.50200G>T (p.Gly16734Ter) c.50119G>T (p.Gly16707Ter) c.31882G>T (p.Gly10628Ter) c.21736G>T (p.Gly7246Ter) | |
2 | g.178593221C>G | CA349500110 | TTN,TTN-AS1 | c.51283G>C (p.Gly17095Arg) c.32368G>C (p.Gly10790Arg) c.32167G>C (p.Gly10723Arg) c.31792G>C (p.Gly10598Arg) c.58987G>C (p.Gly19663Arg) c.54064G>C (p.Gly18022Arg) n.597-4375C>G n.3364+1907C>G c.58084G>C (p.Gly19362Arg) c.31978G>C (p.Gly10660Arg) c.31837G>C (p.Gly10613Arg) c.57880G>C (p.Gly19294Arg) c.53278G>C (p.Gly17760Arg) c.53275G>C (p.Gly17759Arg) c.50317G>C (p.Gly16773Arg) c.31933G>C (p.Gly10645Arg) c.53428G>C (p.Gly17810Arg) c.53425G>C (p.Gly17809Arg) c.52858G>C (p.Gly17620Arg) c.50200G>C (p.Gly16734Arg) c.50119G>C (p.Gly16707Arg) c.31882G>C (p.Gly10628Arg) c.21736G>C (p.Gly7246Arg) | |
2 | g.178593221C>T | CA349500114 | TTN,TTN-AS1 | c.51283G>A (p.Gly17095Arg) c.32368G>A (p.Gly10790Arg) c.32167G>A (p.Gly10723Arg) c.31792G>A (p.Gly10598Arg) c.58987G>A (p.Gly19663Arg) c.54064G>A (p.Gly18022Arg) n.597-4375C>T n.3364+1907C>T c.58084G>A (p.Gly19362Arg) c.31978G>A (p.Gly10660Arg) c.31837G>A (p.Gly10613Arg) c.57880G>A (p.Gly19294Arg) c.53278G>A (p.Gly17760Arg) c.53275G>A (p.Gly17759Arg) c.50317G>A (p.Gly16773Arg) c.31933G>A (p.Gly10645Arg) c.53428G>A (p.Gly17810Arg) c.53425G>A (p.Gly17809Arg) c.52858G>A (p.Gly17620Arg) c.50200G>A (p.Gly16734Arg) c.50119G>A (p.Gly16707Arg) c.31882G>A (p.Gly10628Arg) c.21736G>A (p.Gly7246Arg) | |
2 | g.178593222A= | CA1310540433 | TTN,TTN-AS1 | c.51282T= (p.Ile17094=) c.32367T= (p.Ile10789=) c.32166T= (p.Ile10722=) c.31791T= (p.Ile10597=) c.58986T= (p.Ile19662=) c.54063T= (p.Ile18021=) n.597-4374A= n.3364+1908A= c.58083T= (p.Ile19361=) c.31977T= (p.Ile10659=) c.31836T= (p.Ile10612=) c.57879T= (p.Ile19293=) c.53277T= (p.Ile17759=) c.53274T= (p.Ile17758=) c.50316T= (p.Ile16772=) c.31932T= (p.Ile10644=) c.53427T= (p.Ile17809=) c.53424T= (p.Ile17808=) c.52857T= (p.Ile17619=) c.50199T= (p.Ile16733=) c.50118T= (p.Ile16706=) c.31881T= (p.Ile10627=) c.21735T= (p.Ile7245=) | |
2 | g.178593222A>C | CA349500118 | TTN,TTN-AS1 | c.51282T>G (p.Ile17094Met) c.32367T>G (p.Ile10789Met) c.32166T>G (p.Ile10722Met) c.31791T>G (p.Ile10597Met) c.58986T>G (p.Ile19662Met) c.54063T>G (p.Ile18021Met) n.597-4374A>C n.3364+1908A>C c.58083T>G (p.Ile19361Met) c.31977T>G (p.Ile10659Met) c.31836T>G (p.Ile10612Met) c.57879T>G (p.Ile19293Met) c.53277T>G (p.Ile17759Met) c.53274T>G (p.Ile17758Met) c.50316T>G (p.Ile16772Met) c.31932T>G (p.Ile10644Met) c.53427T>G (p.Ile17809Met) c.53424T>G (p.Ile17808Met) c.52857T>G (p.Ile17619Met) c.50199T>G (p.Ile16733Met) c.50118T>G (p.Ile16706Met) c.31881T>G (p.Ile10627Met) c.21735T>G (p.Ile7245Met) | |
2 | g.178593222A>G | CA60971208 | TTN,TTN-AS1 | c.51282T>C (p.Ile17094=) c.32367T>C (p.Ile10789=) c.32166T>C (p.Ile10722=) c.31791T>C (p.Ile10597=) c.58986T>C (p.Ile19662=) c.54063T>C (p.Ile18021=) n.597-4374A>G n.3364+1908A>G c.58083T>C (p.Ile19361=) c.31977T>C (p.Ile10659=) c.31836T>C (p.Ile10612=) c.57879T>C (p.Ile19293=) c.53277T>C (p.Ile17759=) c.53274T>C (p.Ile17758=) c.50316T>C (p.Ile16772=) c.31932T>C (p.Ile10644=) c.53427T>C (p.Ile17809=) c.53424T>C (p.Ile17808=) c.52857T>C (p.Ile17619=) c.50199T>C (p.Ile16733=) c.50118T>C (p.Ile16706=) c.31881T>C (p.Ile10627=) c.21735T>C (p.Ile7245=) | ClinVar dbSNP |
2 | g.178593222A>T | CA430267373 | TTN,TTN-AS1 | c.51282T>A (p.Ile17094=) c.32367T>A (p.Ile10789=) c.32166T>A (p.Ile10722=) c.31791T>A (p.Ile10597=) c.58986T>A (p.Ile19662=) c.54063T>A (p.Ile18021=) n.597-4374A>T n.3364+1908A>T c.58083T>A (p.Ile19361=) c.31977T>A (p.Ile10659=) c.31836T>A (p.Ile10612=) c.57879T>A (p.Ile19293=) c.53277T>A (p.Ile17759=) c.53274T>A (p.Ile17758=) c.50316T>A (p.Ile16772=) c.31932T>A (p.Ile10644=) c.53427T>A (p.Ile17809=) c.53424T>A (p.Ile17808=) c.52857T>A (p.Ile17619=) c.50199T>A (p.Ile16733=) c.50118T>A (p.Ile16706=) c.31881T>A (p.Ile10627=) c.21735T>A (p.Ile7245=) | |
2 | g.178593223A>C | CA349500119 | TTN,TTN-AS1 | c.51281T>G (p.Ile17094Ser) c.32366T>G (p.Ile10789Ser) c.32165T>G (p.Ile10722Ser) c.31790T>G (p.Ile10597Ser) c.58985T>G (p.Ile19662Ser) c.54062T>G (p.Ile18021Ser) n.597-4373A>C n.3364+1909A>C c.58082T>G (p.Ile19361Ser) c.31976T>G (p.Ile10659Ser) c.31835T>G (p.Ile10612Ser) c.57878T>G (p.Ile19293Ser) c.53276T>G (p.Ile17759Ser) c.53273T>G (p.Ile17758Ser) c.50315T>G (p.Ile16772Ser) c.31931T>G (p.Ile10644Ser) c.53426T>G (p.Ile17809Ser) c.53423T>G (p.Ile17808Ser) c.52856T>G (p.Ile17619Ser) c.50198T>G (p.Ile16733Ser) c.50117T>G (p.Ile16706Ser) c.31880T>G (p.Ile10627Ser) c.21734T>G (p.Ile7245Ser) | |
2 | g.178593223A>G | CA349500120 | TTN,TTN-AS1 | c.51281T>C (p.Ile17094Thr) c.32366T>C (p.Ile10789Thr) c.32165T>C (p.Ile10722Thr) c.31790T>C (p.Ile10597Thr) c.58985T>C (p.Ile19662Thr) c.54062T>C (p.Ile18021Thr) n.597-4373A>G n.3364+1909A>G c.58082T>C (p.Ile19361Thr) c.31976T>C (p.Ile10659Thr) c.31835T>C (p.Ile10612Thr) c.57878T>C (p.Ile19293Thr) c.53276T>C (p.Ile17759Thr) c.53273T>C (p.Ile17758Thr) c.50315T>C (p.Ile16772Thr) c.31931T>C (p.Ile10644Thr) c.53426T>C (p.Ile17809Thr) c.53423T>C (p.Ile17808Thr) c.52856T>C (p.Ile17619Thr) c.50198T>C (p.Ile16733Thr) c.50117T>C (p.Ile16706Thr) c.31880T>C (p.Ile10627Thr) c.21734T>C (p.Ile7245Thr) | gnomAD v4 |
2 | g.178593223A>T | CA349500121 | TTN,TTN-AS1 | c.51281T>A (p.Ile17094Asn) c.32366T>A (p.Ile10789Asn) c.32165T>A (p.Ile10722Asn) c.31790T>A (p.Ile10597Asn) c.58985T>A (p.Ile19662Asn) c.54062T>A (p.Ile18021Asn) n.597-4373A>T n.3364+1909A>T c.58082T>A (p.Ile19361Asn) c.31976T>A (p.Ile10659Asn) c.31835T>A (p.Ile10612Asn) c.57878T>A (p.Ile19293Asn) c.53276T>A (p.Ile17759Asn) c.53273T>A (p.Ile17758Asn) c.50315T>A (p.Ile16772Asn) c.31931T>A (p.Ile10644Asn) c.53426T>A (p.Ile17809Asn) c.53423T>A (p.Ile17808Asn) c.52856T>A (p.Ile17619Asn) c.50198T>A (p.Ile16733Asn) c.50117T>A (p.Ile16706Asn) c.31880T>A (p.Ile10627Asn) c.21734T>A (p.Ile7245Asn) | |
2 | g.178593224T>A | CA349500122 | TTN,TTN-AS1 | c.51280A>T (p.Ile17094Phe) c.32365A>T (p.Ile10789Phe) c.32164A>T (p.Ile10722Phe) c.31789A>T (p.Ile10597Phe) c.58984A>T (p.Ile19662Phe) c.54061A>T (p.Ile18021Phe) n.597-4372T>A n.3364+1910T>A c.58081A>T (p.Ile19361Phe) c.31975A>T (p.Ile10659Phe) c.31834A>T (p.Ile10612Phe) c.57877A>T (p.Ile19293Phe) c.53275A>T (p.Ile17759Phe) c.53272A>T (p.Ile17758Phe) c.50314A>T (p.Ile16772Phe) c.31930A>T (p.Ile10644Phe) c.53425A>T (p.Ile17809Phe) c.53422A>T (p.Ile17808Phe) c.52855A>T (p.Ile17619Phe) c.50197A>T (p.Ile16733Phe) c.50116A>T (p.Ile16706Phe) c.31879A>T (p.Ile10627Phe) c.21733A>T (p.Ile7245Phe) | dbSNP |
2 | g.178593224T>C | CA10611651 | TTN,TTN-AS1 | c.51280A>G (p.Ile17094Val) c.32365A>G (p.Ile10789Val) c.32164A>G (p.Ile10722Val) c.31789A>G (p.Ile10597Val) c.58984A>G (p.Ile19662Val) c.54061A>G (p.Ile18021Val) n.597-4372T>C n.3364+1910T>C c.58081A>G (p.Ile19361Val) c.31975A>G (p.Ile10659Val) c.31834A>G (p.Ile10612Val) c.57877A>G (p.Ile19293Val) c.53275A>G (p.Ile17759Val) c.53272A>G (p.Ile17758Val) c.50314A>G (p.Ile16772Val) c.31930A>G (p.Ile10644Val) c.53425A>G (p.Ile17809Val) c.53422A>G (p.Ile17808Val) c.52855A>G (p.Ile17619Val) c.50197A>G (p.Ile16733Val) c.50116A>G (p.Ile16706Val) c.31879A>G (p.Ile10627Val) c.21733A>G (p.Ile7245Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.178593224T>G | CA349500123 | TTN,TTN-AS1 | c.51280A>C (p.Ile17094Leu) c.32365A>C (p.Ile10789Leu) c.32164A>C (p.Ile10722Leu) c.31789A>C (p.Ile10597Leu) c.58984A>C (p.Ile19662Leu) c.54061A>C (p.Ile18021Leu) n.597-4372T>G n.3364+1910T>G c.58081A>C (p.Ile19361Leu) c.31975A>C (p.Ile10659Leu) c.31834A>C (p.Ile10612Leu) c.57877A>C (p.Ile19293Leu) c.53275A>C (p.Ile17759Leu) c.53272A>C (p.Ile17758Leu) c.50314A>C (p.Ile16772Leu) c.31930A>C (p.Ile10644Leu) c.53425A>C (p.Ile17809Leu) c.53422A>C (p.Ile17808Leu) c.52855A>C (p.Ile17619Leu) c.50197A>C (p.Ile16733Leu) c.50116A>C (p.Ile16706Leu) c.31879A>C (p.Ile10627Leu) c.21733A>C (p.Ile7245Leu) | |
2 | g.178593224T= | CA1310540435 | TTN,TTN-AS1 | c.51280A= (p.Ile17094=) c.32365A= (p.Ile10789=) c.32164A= (p.Ile10722=) c.31789A= (p.Ile10597=) c.58984A= (p.Ile19662=) c.54061A= (p.Ile18021=) n.597-4372T= n.3364+1910T= c.58081A= (p.Ile19361=) c.31975A= (p.Ile10659=) c.31834A= (p.Ile10612=) c.57877A= (p.Ile19293=) c.53275A= (p.Ile17759=) c.53272A= (p.Ile17758=) c.50314A= (p.Ile16772=) c.31930A= (p.Ile10644=) c.53425A= (p.Ile17809=) c.53422A= (p.Ile17808=) c.52855A= (p.Ile17619=) c.50197A= (p.Ile16733=) c.50116A= (p.Ile16706=) c.31879A= (p.Ile10627=) c.21733A= (p.Ile7245=) | |
2 | g.178593225A= | CA1310540437 | TTN,TTN-AS1 | c.51279T= (p.Gly17093=) c.32364T= (p.Gly10788=) c.32163T= (p.Gly10721=) c.31788T= (p.Gly10596=) c.58983T= (p.Gly19661=) c.54060T= (p.Gly18020=) n.597-4371A= n.3364+1911A= c.58080T= (p.Gly19360=) c.31974T= (p.Gly10658=) c.31833T= (p.Gly10611=) c.57876T= (p.Gly19292=) c.53274T= (p.Gly17758=) c.53271T= (p.Gly17757=) c.50313T= (p.Gly16771=) c.31929T= (p.Gly10643=) c.53424T= (p.Gly17808=) c.53421T= (p.Gly17807=) c.52854T= (p.Gly17618=) c.50196T= (p.Gly16732=) c.50115T= (p.Gly16705=) c.31878T= (p.Gly10626=) c.21732T= (p.Gly7244=) | |
2 | g.178593225A>C | CA430267375 | TTN,TTN-AS1 | c.51279T>G (p.Gly17093=) c.32364T>G (p.Gly10788=) c.32163T>G (p.Gly10721=) c.31788T>G (p.Gly10596=) c.58983T>G (p.Gly19661=) c.54060T>G (p.Gly18020=) n.597-4371A>C n.3364+1911A>C c.58080T>G (p.Gly19360=) c.31974T>G (p.Gly10658=) c.31833T>G (p.Gly10611=) c.57876T>G (p.Gly19292=) c.53274T>G (p.Gly17758=) c.53271T>G (p.Gly17757=) c.50313T>G (p.Gly16771=) c.31929T>G (p.Gly10643=) c.53424T>G (p.Gly17808=) c.53421T>G (p.Gly17807=) c.52854T>G (p.Gly17618=) c.50196T>G (p.Gly16732=) c.50115T>G (p.Gly16705=) c.31878T>G (p.Gly10626=) c.21732T>G (p.Gly7244=) | |
2 | g.178593225A>G | CA430267376 | TTN,TTN-AS1 | c.51279T>C (p.Gly17093=) c.32364T>C (p.Gly10788=) c.32163T>C (p.Gly10721=) c.31788T>C (p.Gly10596=) c.58983T>C (p.Gly19661=) c.54060T>C (p.Gly18020=) n.597-4371A>G n.3364+1911A>G c.58080T>C (p.Gly19360=) c.31974T>C (p.Gly10658=) c.31833T>C (p.Gly10611=) c.57876T>C (p.Gly19292=) c.53274T>C (p.Gly17758=) c.53271T>C (p.Gly17757=) c.50313T>C (p.Gly16771=) c.31929T>C (p.Gly10643=) c.53424T>C (p.Gly17808=) c.53421T>C (p.Gly17807=) c.52854T>C (p.Gly17618=) c.50196T>C (p.Gly16732=) c.50115T>C (p.Gly16705=) c.31878T>C (p.Gly10626=) c.21732T>C (p.Gly7244=) | |
2 | g.178593225A>T | CA430267377 | TTN,TTN-AS1 | c.51279T>A (p.Gly17093=) c.32364T>A (p.Gly10788=) c.32163T>A (p.Gly10721=) c.31788T>A (p.Gly10596=) c.58983T>A (p.Gly19661=) c.54060T>A (p.Gly18020=) n.597-4371A>T n.3364+1911A>T c.58080T>A (p.Gly19360=) c.31974T>A (p.Gly10658=) c.31833T>A (p.Gly10611=) c.57876T>A (p.Gly19292=) c.53274T>A (p.Gly17758=) c.53271T>A (p.Gly17757=) c.50313T>A (p.Gly16771=) c.31929T>A (p.Gly10643=) c.53424T>A (p.Gly17808=) c.53421T>A (p.Gly17807=) c.52854T>A (p.Gly17618=) c.50196T>A (p.Gly16732=) c.50115T>A (p.Gly16705=) c.31878T>A (p.Gly10626=) c.21732T>A (p.Gly7244=) | dbSNP gnomAD v4 |
2 | g.178593226C>A | CA349500124 | TTN,TTN-AS1 | c.51278G>T (p.Gly17093Val) c.32363G>T (p.Gly10788Val) c.32162G>T (p.Gly10721Val) c.31787G>T (p.Gly10596Val) c.58982G>T (p.Gly19661Val) c.54059G>T (p.Gly18020Val) n.597-4370C>A n.3364+1912C>A c.58079G>T (p.Gly19360Val) c.31973G>T (p.Gly10658Val) c.31832G>T (p.Gly10611Val) c.57875G>T (p.Gly19292Val) c.53273G>T (p.Gly17758Val) c.53270G>T (p.Gly17757Val) c.50312G>T (p.Gly16771Val) c.31928G>T (p.Gly10643Val) c.53423G>T (p.Gly17808Val) c.53420G>T (p.Gly17807Val) c.52853G>T (p.Gly17618Val) c.50195G>T (p.Gly16732Val) c.50114G>T (p.Gly16705Val) c.31877G>T (p.Gly10626Val) c.21731G>T (p.Gly7244Val) | |
2 | g.178593226C= | CA1310540438 | TTN,TTN-AS1 | c.51278G= (p.Gly17093=) c.32363G= (p.Gly10788=) c.32162G= (p.Gly10721=) c.31787G= (p.Gly10596=) c.58982G= (p.Gly19661=) c.54059G= (p.Gly18020=) n.597-4370C= n.3364+1912C= c.58079G= (p.Gly19360=) c.31973G= (p.Gly10658=) c.31832G= (p.Gly10611=) c.57875G= (p.Gly19292=) c.53273G= (p.Gly17758=) c.53270G= (p.Gly17757=) c.50312G= (p.Gly16771=) c.31928G= (p.Gly10643=) c.53423G= (p.Gly17808=) c.53420G= (p.Gly17807=) c.52853G= (p.Gly17618=) c.50195G= (p.Gly16732=) c.50114G= (p.Gly16705=) c.31877G= (p.Gly10626=) c.21731G= (p.Gly7244=) | |
2 | g.178593226C>G | CA349500125 | TTN,TTN-AS1 | c.51278G>C (p.Gly17093Ala) c.32363G>C (p.Gly10788Ala) c.32162G>C (p.Gly10721Ala) c.31787G>C (p.Gly10596Ala) c.58982G>C (p.Gly19661Ala) c.54059G>C (p.Gly18020Ala) n.597-4370C>G n.3364+1912C>G c.58079G>C (p.Gly19360Ala) c.31973G>C (p.Gly10658Ala) c.31832G>C (p.Gly10611Ala) c.57875G>C (p.Gly19292Ala) c.53273G>C (p.Gly17758Ala) c.53270G>C (p.Gly17757Ala) c.50312G>C (p.Gly16771Ala) c.31928G>C (p.Gly10643Ala) c.53423G>C (p.Gly17808Ala) c.53420G>C (p.Gly17807Ala) c.52853G>C (p.Gly17618Ala) c.50195G>C (p.Gly16732Ala) c.50114G>C (p.Gly16705Ala) c.31877G>C (p.Gly10626Ala) c.21731G>C (p.Gly7244Ala) | |
2 | g.178593226C>T | CA140115 | TTN,TTN-AS1 | c.51278G>A (p.Gly17093Asp) c.32363G>A (p.Gly10788Asp) c.32162G>A (p.Gly10721Asp) c.31787G>A (p.Gly10596Asp) c.58982G>A (p.Gly19661Asp) c.54059G>A (p.Gly18020Asp) n.597-4370C>T n.3364+1912C>T c.58079G>A (p.Gly19360Asp) c.31973G>A (p.Gly10658Asp) c.31832G>A (p.Gly10611Asp) c.57875G>A (p.Gly19292Asp) c.53273G>A (p.Gly17758Asp) c.53270G>A (p.Gly17757Asp) c.50312G>A (p.Gly16771Asp) c.31928G>A (p.Gly10643Asp) c.53423G>A (p.Gly17808Asp) c.53420G>A (p.Gly17807Asp) c.52853G>A (p.Gly17618Asp) c.50195G>A (p.Gly16732Asp) c.50114G>A (p.Gly16705Asp) c.31877G>A (p.Gly10626Asp) c.21731G>A (p.Gly7244Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178593227C>A | CA349500126 | TTN,TTN-AS1 | c.51277G>T (p.Gly17093Cys) c.32362G>T (p.Gly10788Cys) c.32161G>T (p.Gly10721Cys) c.31786G>T (p.Gly10596Cys) c.58981G>T (p.Gly19661Cys) c.54058G>T (p.Gly18020Cys) n.597-4369C>A n.3364+1913C>A c.58078G>T (p.Gly19360Cys) c.31972G>T (p.Gly10658Cys) c.31831G>T (p.Gly10611Cys) c.57874G>T (p.Gly19292Cys) c.53272G>T (p.Gly17758Cys) c.53269G>T (p.Gly17757Cys) c.50311G>T (p.Gly16771Cys) c.31927G>T (p.Gly10643Cys) c.53422G>T (p.Gly17808Cys) c.53419G>T (p.Gly17807Cys) c.52852G>T (p.Gly17618Cys) c.50194G>T (p.Gly16732Cys) c.50113G>T (p.Gly16705Cys) c.31876G>T (p.Gly10626Cys) c.21730G>T (p.Gly7244Cys) | |
2 | g.178593227C>G | CA349500127 | TTN,TTN-AS1 | c.51277G>C (p.Gly17093Arg) c.32362G>C (p.Gly10788Arg) c.32161G>C (p.Gly10721Arg) c.31786G>C (p.Gly10596Arg) c.58981G>C (p.Gly19661Arg) c.54058G>C (p.Gly18020Arg) n.597-4369C>G n.3364+1913C>G c.58078G>C (p.Gly19360Arg) c.31972G>C (p.Gly10658Arg) c.31831G>C (p.Gly10611Arg) c.57874G>C (p.Gly19292Arg) c.53272G>C (p.Gly17758Arg) c.53269G>C (p.Gly17757Arg) c.50311G>C (p.Gly16771Arg) c.31927G>C (p.Gly10643Arg) c.53422G>C (p.Gly17808Arg) c.53419G>C (p.Gly17807Arg) c.52852G>C (p.Gly17618Arg) c.50194G>C (p.Gly16732Arg) c.50113G>C (p.Gly16705Arg) c.31876G>C (p.Gly10626Arg) c.21730G>C (p.Gly7244Arg) | |
2 | g.178593227C>T | CA349500128 | TTN,TTN-AS1 | c.51277G>A (p.Gly17093Ser) c.32362G>A (p.Gly10788Ser) c.32161G>A (p.Gly10721Ser) c.31786G>A (p.Gly10596Ser) c.58981G>A (p.Gly19661Ser) c.54058G>A (p.Gly18020Ser) n.597-4369C>T n.3364+1913C>T c.58078G>A (p.Gly19360Ser) c.31972G>A (p.Gly10658Ser) c.31831G>A (p.Gly10611Ser) c.57874G>A (p.Gly19292Ser) c.53272G>A (p.Gly17758Ser) c.53269G>A (p.Gly17757Ser) c.50311G>A (p.Gly16771Ser) c.31927G>A (p.Gly10643Ser) c.53422G>A (p.Gly17808Ser) c.53419G>A (p.Gly17807Ser) c.52852G>A (p.Gly17618Ser) c.50194G>A (p.Gly16732Ser) c.50113G>A (p.Gly16705Ser) c.31876G>A (p.Gly10626Ser) c.21730G>A (p.Gly7244Ser) | gnomAD v4 |
2 | g.178593228A= | CA1310540440 | TTN,TTN-AS1 | c.51276T= (p.Ile17092=) c.32361T= (p.Ile10787=) c.32160T= (p.Ile10720=) c.31785T= (p.Ile10595=) c.58980T= (p.Ile19660=) c.54057T= (p.Ile18019=) n.597-4368A= n.3364+1914A= c.58077T= (p.Ile19359=) c.31971T= (p.Ile10657=) c.31830T= (p.Ile10610=) c.57873T= (p.Ile19291=) c.53271T= (p.Ile17757=) c.53268T= (p.Ile17756=) c.50310T= (p.Ile16770=) c.31926T= (p.Ile10642=) c.53421T= (p.Ile17807=) c.53418T= (p.Ile17806=) c.52851T= (p.Ile17617=) c.50193T= (p.Ile16731=) c.50112T= (p.Ile16704=) c.31875T= (p.Ile10625=) c.21729T= (p.Ile7243=) | |
2 | g.178593228A>C | CA1992747 | TTN,TTN-AS1 | c.51276T>G (p.Ile17092Met) c.32361T>G (p.Ile10787Met) c.32160T>G (p.Ile10720Met) c.31785T>G (p.Ile10595Met) c.58980T>G (p.Ile19660Met) c.54057T>G (p.Ile18019Met) n.597-4368A>C n.3364+1914A>C c.58077T>G (p.Ile19359Met) c.31971T>G (p.Ile10657Met) c.31830T>G (p.Ile10610Met) c.57873T>G (p.Ile19291Met) c.53271T>G (p.Ile17757Met) c.53268T>G (p.Ile17756Met) c.50310T>G (p.Ile16770Met) c.31926T>G (p.Ile10642Met) c.53421T>G (p.Ile17807Met) c.53418T>G (p.Ile17806Met) c.52851T>G (p.Ile17617Met) c.50193T>G (p.Ile16731Met) c.50112T>G (p.Ile16704Met) c.31875T>G (p.Ile10625Met) c.21729T>G (p.Ile7243Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178593228A>G | CA430267384 | TTN,TTN-AS1 | c.51276T>C (p.Ile17092=) c.32361T>C (p.Ile10787=) c.32160T>C (p.Ile10720=) c.31785T>C (p.Ile10595=) c.58980T>C (p.Ile19660=) c.54057T>C (p.Ile18019=) n.597-4368A>G n.3364+1914A>G c.58077T>C (p.Ile19359=) c.31971T>C (p.Ile10657=) c.31830T>C (p.Ile10610=) c.57873T>C (p.Ile19291=) c.53271T>C (p.Ile17757=) c.53268T>C (p.Ile17756=) c.50310T>C (p.Ile16770=) c.31926T>C (p.Ile10642=) c.53421T>C (p.Ile17807=) c.53418T>C (p.Ile17806=) c.52851T>C (p.Ile17617=) c.50193T>C (p.Ile16731=) c.50112T>C (p.Ile16704=) c.31875T>C (p.Ile10625=) c.21729T>C (p.Ile7243=) | |
2 | g.178593228A>T | CA430267385 | TTN,TTN-AS1 | c.51276T>A (p.Ile17092=) c.32361T>A (p.Ile10787=) c.32160T>A (p.Ile10720=) c.31785T>A (p.Ile10595=) c.58980T>A (p.Ile19660=) c.54057T>A (p.Ile18019=) n.597-4368A>T n.3364+1914A>T c.58077T>A (p.Ile19359=) c.31971T>A (p.Ile10657=) c.31830T>A (p.Ile10610=) c.57873T>A (p.Ile19291=) c.53271T>A (p.Ile17757=) c.53268T>A (p.Ile17756=) c.50310T>A (p.Ile16770=) c.31926T>A (p.Ile10642=) c.53421T>A (p.Ile17807=) c.53418T>A (p.Ile17806=) c.52851T>A (p.Ile17617=) c.50193T>A (p.Ile16731=) c.50112T>A (p.Ile16704=) c.31875T>A (p.Ile10625=) c.21729T>A (p.Ile7243=) | |
2 | g.178593229A= | CA1310540442 | TTN,TTN-AS1 | c.51275T= (p.Ile17092=) c.32360T= (p.Ile10787=) c.32159T= (p.Ile10720=) c.31784T= (p.Ile10595=) c.58979T= (p.Ile19660=) c.54056T= (p.Ile18019=) n.597-4367A= n.3364+1915A= c.58076T= (p.Ile19359=) c.31970T= (p.Ile10657=) c.31829T= (p.Ile10610=) c.57872T= (p.Ile19291=) c.53270T= (p.Ile17757=) c.53267T= (p.Ile17756=) c.50309T= (p.Ile16770=) c.31925T= (p.Ile10642=) c.53420T= (p.Ile17807=) c.53417T= (p.Ile17806=) c.52850T= (p.Ile17617=) c.50192T= (p.Ile16731=) c.50111T= (p.Ile16704=) c.31874T= (p.Ile10625=) c.21728T= (p.Ile7243=) | |
2 | g.178593229A>C | CA349500132 | TTN,TTN-AS1 | c.51275T>G (p.Ile17092Ser) c.32360T>G (p.Ile10787Ser) c.32159T>G (p.Ile10720Ser) c.31784T>G (p.Ile10595Ser) c.58979T>G (p.Ile19660Ser) c.54056T>G (p.Ile18019Ser) n.597-4367A>C n.3364+1915A>C c.58076T>G (p.Ile19359Ser) c.31970T>G (p.Ile10657Ser) c.31829T>G (p.Ile10610Ser) c.57872T>G (p.Ile19291Ser) c.53270T>G (p.Ile17757Ser) c.53267T>G (p.Ile17756Ser) c.50309T>G (p.Ile16770Ser) c.31925T>G (p.Ile10642Ser) c.53420T>G (p.Ile17807Ser) c.53417T>G (p.Ile17806Ser) c.52850T>G (p.Ile17617Ser) c.50192T>G (p.Ile16731Ser) c.50111T>G (p.Ile16704Ser) c.31874T>G (p.Ile10625Ser) c.21728T>G (p.Ile7243Ser) | |
2 | g.178593229A>G | CA60971219 | TTN,TTN-AS1 | c.51275T>C (p.Ile17092Thr) c.32360T>C (p.Ile10787Thr) c.32159T>C (p.Ile10720Thr) c.31784T>C (p.Ile10595Thr) c.58979T>C (p.Ile19660Thr) c.54056T>C (p.Ile18019Thr) n.597-4367A>G n.3364+1915A>G c.58076T>C (p.Ile19359Thr) c.31970T>C (p.Ile10657Thr) c.31829T>C (p.Ile10610Thr) c.57872T>C (p.Ile19291Thr) c.53270T>C (p.Ile17757Thr) c.53267T>C (p.Ile17756Thr) c.50309T>C (p.Ile16770Thr) c.31925T>C (p.Ile10642Thr) c.53420T>C (p.Ile17807Thr) c.53417T>C (p.Ile17806Thr) c.52850T>C (p.Ile17617Thr) c.50192T>C (p.Ile16731Thr) c.50111T>C (p.Ile16704Thr) c.31874T>C (p.Ile10625Thr) c.21728T>C (p.Ile7243Thr) | dbSNP gnomAD v4 |
2 | g.178593229A>T | CA349500131 | TTN,TTN-AS1 | c.51275T>A (p.Ile17092Asn) c.32360T>A (p.Ile10787Asn) c.32159T>A (p.Ile10720Asn) c.31784T>A (p.Ile10595Asn) c.58979T>A (p.Ile19660Asn) c.54056T>A (p.Ile18019Asn) n.597-4367A>T n.3364+1915A>T c.58076T>A (p.Ile19359Asn) c.31970T>A (p.Ile10657Asn) c.31829T>A (p.Ile10610Asn) c.57872T>A (p.Ile19291Asn) c.53270T>A (p.Ile17757Asn) c.53267T>A (p.Ile17756Asn) c.50309T>A (p.Ile16770Asn) c.31925T>A (p.Ile10642Asn) c.53420T>A (p.Ile17807Asn) c.53417T>A (p.Ile17806Asn) c.52850T>A (p.Ile17617Asn) c.50192T>A (p.Ile16731Asn) c.50111T>A (p.Ile16704Asn) c.31874T>A (p.Ile10625Asn) c.21728T>A (p.Ile7243Asn) | |
2 | g.178593230T>A | CA349500135 | TTN,TTN-AS1 | c.51274A>T (p.Ile17092Phe) c.32359A>T (p.Ile10787Phe) c.32158A>T (p.Ile10720Phe) c.31783A>T (p.Ile10595Phe) c.58978A>T (p.Ile19660Phe) c.54055A>T (p.Ile18019Phe) n.597-4366T>A n.3364+1916T>A c.58075A>T (p.Ile19359Phe) c.31969A>T (p.Ile10657Phe) c.31828A>T (p.Ile10610Phe) c.57871A>T (p.Ile19291Phe) c.53269A>T (p.Ile17757Phe) c.53266A>T (p.Ile17756Phe) c.50308A>T (p.Ile16770Phe) c.31924A>T (p.Ile10642Phe) c.53419A>T (p.Ile17807Phe) c.53416A>T (p.Ile17806Phe) c.52849A>T (p.Ile17617Phe) c.50191A>T (p.Ile16731Phe) c.50110A>T (p.Ile16704Phe) c.31873A>T (p.Ile10625Phe) c.21727A>T (p.Ile7243Phe) | |
2 | g.178593230T>C | CA349500138 | TTN,TTN-AS1 | c.51274A>G (p.Ile17092Val) c.32359A>G (p.Ile10787Val) c.32158A>G (p.Ile10720Val) c.31783A>G (p.Ile10595Val) c.58978A>G (p.Ile19660Val) c.54055A>G (p.Ile18019Val) n.597-4366T>C n.3364+1916T>C c.58075A>G (p.Ile19359Val) c.31969A>G (p.Ile10657Val) c.31828A>G (p.Ile10610Val) c.57871A>G (p.Ile19291Val) c.53269A>G (p.Ile17757Val) c.53266A>G (p.Ile17756Val) c.50308A>G (p.Ile16770Val) c.31924A>G (p.Ile10642Val) c.53419A>G (p.Ile17807Val) c.53416A>G (p.Ile17806Val) c.52849A>G (p.Ile17617Val) c.50191A>G (p.Ile16731Val) c.50110A>G (p.Ile16704Val) c.31873A>G (p.Ile10625Val) c.21727A>G (p.Ile7243Val) | |
2 | g.178593230T>G | CA349500143 | TTN,TTN-AS1 | c.51274A>C (p.Ile17092Leu) c.32359A>C (p.Ile10787Leu) c.32158A>C (p.Ile10720Leu) c.31783A>C (p.Ile10595Leu) c.58978A>C (p.Ile19660Leu) c.54055A>C (p.Ile18019Leu) n.597-4366T>G n.3364+1916T>G c.58075A>C (p.Ile19359Leu) c.31969A>C (p.Ile10657Leu) c.31828A>C (p.Ile10610Leu) c.57871A>C (p.Ile19291Leu) c.53269A>C (p.Ile17757Leu) c.53266A>C (p.Ile17756Leu) c.50308A>C (p.Ile16770Leu) c.31924A>C (p.Ile10642Leu) c.53419A>C (p.Ile17807Leu) c.53416A>C (p.Ile17806Leu) c.52849A>C (p.Ile17617Leu) c.50191A>C (p.Ile16731Leu) c.50110A>C (p.Ile16704Leu) c.31873A>C (p.Ile10625Leu) c.21727A>C (p.Ile7243Leu) | |
2 | g.178593231T>A | CA349500148 | TTN,TTN-AS1 | c.51273A>T (p.Glu17091Asp) c.32358A>T (p.Glu10786Asp) c.32157A>T (p.Glu10719Asp) c.31782A>T (p.Glu10594Asp) c.58977A>T (p.Glu19659Asp) c.54054A>T (p.Glu18018Asp) n.597-4365T>A n.3364+1917T>A c.58074A>T (p.Glu19358Asp) c.31968A>T (p.Glu10656Asp) c.31827A>T (p.Glu10609Asp) c.57870A>T (p.Glu19290Asp) c.53268A>T (p.Glu17756Asp) c.53265A>T (p.Glu17755Asp) c.50307A>T (p.Glu16769Asp) c.31923A>T (p.Glu10641Asp) c.53418A>T (p.Glu17806Asp) c.53415A>T (p.Glu17805Asp) c.52848A>T (p.Glu17616Asp) c.50190A>T (p.Glu16730Asp) c.50109A>T (p.Glu16703Asp) c.31872A>T (p.Glu10624Asp) c.21726A>T (p.Glu7242Asp) | |
2 | g.178593231T>C | CA430267392 | TTN,TTN-AS1 | c.51273A>G (p.Glu17091=) c.32358A>G (p.Glu10786=) c.32157A>G (p.Glu10719=) c.31782A>G (p.Glu10594=) c.58977A>G (p.Glu19659=) c.54054A>G (p.Glu18018=) n.597-4365T>C n.3364+1917T>C c.58074A>G (p.Glu19358=) c.31968A>G (p.Glu10656=) c.31827A>G (p.Glu10609=) c.57870A>G (p.Glu19290=) c.53268A>G (p.Glu17756=) c.53265A>G (p.Glu17755=) c.50307A>G (p.Glu16769=) c.31923A>G (p.Glu10641=) c.53418A>G (p.Glu17806=) c.53415A>G (p.Glu17805=) c.52848A>G (p.Glu17616=) c.50190A>G (p.Glu16730=) c.50109A>G (p.Glu16703=) c.31872A>G (p.Glu10624=) c.21726A>G (p.Glu7242=) | |
2 | g.178593231T>G | CA349500152 | TTN,TTN-AS1 | c.51273A>C (p.Glu17091Asp) c.32358A>C (p.Glu10786Asp) c.32157A>C (p.Glu10719Asp) c.31782A>C (p.Glu10594Asp) c.58977A>C (p.Glu19659Asp) c.54054A>C (p.Glu18018Asp) n.597-4365T>G n.3364+1917T>G c.58074A>C (p.Glu19358Asp) c.31968A>C (p.Glu10656Asp) c.31827A>C (p.Glu10609Asp) c.57870A>C (p.Glu19290Asp) c.53268A>C (p.Glu17756Asp) c.53265A>C (p.Glu17755Asp) c.50307A>C (p.Glu16769Asp) c.31923A>C (p.Glu10641Asp) c.53418A>C (p.Glu17806Asp) c.53415A>C (p.Glu17805Asp) c.52848A>C (p.Glu17616Asp) c.50190A>C (p.Glu16730Asp) c.50109A>C (p.Glu16703Asp) c.31872A>C (p.Glu10624Asp) c.21726A>C (p.Glu7242Asp) | gnomAD v4 |
2 | g.178593232T>A | CA349500161 | TTN,TTN-AS1 | c.51272A>T (p.Glu17091Val) c.32357A>T (p.Glu10786Val) c.32156A>T (p.Glu10719Val) c.31781A>T (p.Glu10594Val) c.58976A>T (p.Glu19659Val) c.54053A>T (p.Glu18018Val) n.597-4364T>A n.3364+1918T>A c.58073A>T (p.Glu19358Val) c.31967A>T (p.Glu10656Val) c.31826A>T (p.Glu10609Val) c.57869A>T (p.Glu19290Val) c.53267A>T (p.Glu17756Val) c.53264A>T (p.Glu17755Val) c.50306A>T (p.Glu16769Val) c.31922A>T (p.Glu10641Val) c.53417A>T (p.Glu17806Val) c.53414A>T (p.Glu17805Val) c.52847A>T (p.Glu17616Val) c.50189A>T (p.Glu16730Val) c.50108A>T (p.Glu16703Val) c.31871A>T (p.Glu10624Val) c.21725A>T (p.Glu7242Val) | |
2 | g.178593232T>C | CA349500155 | TTN,TTN-AS1 | c.51272A>G (p.Glu17091Gly) c.32357A>G (p.Glu10786Gly) c.32156A>G (p.Glu10719Gly) c.31781A>G (p.Glu10594Gly) c.58976A>G (p.Glu19659Gly) c.54053A>G (p.Glu18018Gly) n.597-4364T>C n.3364+1918T>C c.58073A>G (p.Glu19358Gly) c.31967A>G (p.Glu10656Gly) c.31826A>G (p.Glu10609Gly) c.57869A>G (p.Glu19290Gly) c.53267A>G (p.Glu17756Gly) c.53264A>G (p.Glu17755Gly) c.50306A>G (p.Glu16769Gly) c.31922A>G (p.Glu10641Gly) c.53417A>G (p.Glu17806Gly) c.53414A>G (p.Glu17805Gly) c.52847A>G (p.Glu17616Gly) c.50189A>G (p.Glu16730Gly) c.50108A>G (p.Glu16703Gly) c.31871A>G (p.Glu10624Gly) c.21725A>G (p.Glu7242Gly) | |
2 | g.178593232T>G | CA349500159 | TTN,TTN-AS1 | c.51272A>C (p.Glu17091Ala) c.32357A>C (p.Glu10786Ala) c.32156A>C (p.Glu10719Ala) c.31781A>C (p.Glu10594Ala) c.58976A>C (p.Glu19659Ala) c.54053A>C (p.Glu18018Ala) n.597-4364T>G n.3364+1918T>G c.58073A>C (p.Glu19358Ala) c.31967A>C (p.Glu10656Ala) c.31826A>C (p.Glu10609Ala) c.57869A>C (p.Glu19290Ala) c.53267A>C (p.Glu17756Ala) c.53264A>C (p.Glu17755Ala) c.50306A>C (p.Glu16769Ala) c.31922A>C (p.Glu10641Ala) c.53417A>C (p.Glu17806Ala) c.53414A>C (p.Glu17805Ala) c.52847A>C (p.Glu17616Ala) c.50189A>C (p.Glu16730Ala) c.50108A>C (p.Glu16703Ala) c.31871A>C (p.Glu10624Ala) c.21725A>C (p.Glu7242Ala) | |
2 | g.178593233C>A | CA349500167 | TTN,TTN-AS1 | c.51271G>T (p.Glu17091Ter) c.32356G>T (p.Glu10786Ter) c.32155G>T (p.Glu10719Ter) c.31780G>T (p.Glu10594Ter) c.58975G>T (p.Glu19659Ter) c.54052G>T (p.Glu18018Ter) n.597-4363C>A n.3364+1919C>A c.58072G>T (p.Glu19358Ter) c.31966G>T (p.Glu10656Ter) c.31825G>T (p.Glu10609Ter) c.57868G>T (p.Glu19290Ter) c.53266G>T (p.Glu17756Ter) c.53263G>T (p.Glu17755Ter) c.50305G>T (p.Glu16769Ter) c.31921G>T (p.Glu10641Ter) c.53416G>T (p.Glu17806Ter) c.53413G>T (p.Glu17805Ter) c.52846G>T (p.Glu17616Ter) c.50188G>T (p.Glu16730Ter) c.50107G>T (p.Glu16703Ter) c.31870G>T (p.Glu10624Ter) c.21724G>T (p.Glu7242Ter) | |
2 | g.178593233C= | CA1310540444 | TTN,TTN-AS1 | c.51271G= (p.Glu17091=) c.32356G= (p.Glu10786=) c.32155G= (p.Glu10719=) c.31780G= (p.Glu10594=) c.58975G= (p.Glu19659=) c.54052G= (p.Glu18018=) n.597-4363C= n.3364+1919C= c.58072G= (p.Glu19358=) c.31966G= (p.Glu10656=) c.31825G= (p.Glu10609=) c.57868G= (p.Glu19290=) c.53266G= (p.Glu17756=) c.53263G= (p.Glu17755=) c.50305G= (p.Glu16769=) c.31921G= (p.Glu10641=) c.53416G= (p.Glu17806=) c.53413G= (p.Glu17805=) c.52846G= (p.Glu17616=) c.50188G= (p.Glu16730=) c.50107G= (p.Glu16703=) c.31870G= (p.Glu10624=) c.21724G= (p.Glu7242=) | |
2 | g.178593233C>G | CA349500169 | TTN,TTN-AS1 | c.51271G>C (p.Glu17091Gln) c.32356G>C (p.Glu10786Gln) c.32155G>C (p.Glu10719Gln) c.31780G>C (p.Glu10594Gln) c.58975G>C (p.Glu19659Gln) c.54052G>C (p.Glu18018Gln) n.597-4363C>G n.3364+1919C>G c.58072G>C (p.Glu19358Gln) c.31966G>C (p.Glu10656Gln) c.31825G>C (p.Glu10609Gln) c.57868G>C (p.Glu19290Gln) c.53266G>C (p.Glu17756Gln) c.53263G>C (p.Glu17755Gln) c.50305G>C (p.Glu16769Gln) c.31921G>C (p.Glu10641Gln) c.53416G>C (p.Glu17806Gln) c.53413G>C (p.Glu17805Gln) c.52846G>C (p.Glu17616Gln) c.50188G>C (p.Glu16730Gln) c.50107G>C (p.Glu16703Gln) c.31870G>C (p.Glu10624Gln) c.21724G>C (p.Glu7242Gln) | gnomAD v4 |
2 | g.178593233C>T | CA349500173 | TTN,TTN-AS1 | c.51271G>A (p.Glu17091Lys) c.32356G>A (p.Glu10786Lys) c.32155G>A (p.Glu10719Lys) c.31780G>A (p.Glu10594Lys) c.58975G>A (p.Glu19659Lys) c.54052G>A (p.Glu18018Lys) n.597-4363C>T n.3364+1919C>T c.58072G>A (p.Glu19358Lys) c.31966G>A (p.Glu10656Lys) c.31825G>A (p.Glu10609Lys) c.57868G>A (p.Glu19290Lys) c.53266G>A (p.Glu17756Lys) c.53263G>A (p.Glu17755Lys) c.50305G>A (p.Glu16769Lys) c.31921G>A (p.Glu10641Lys) c.53416G>A (p.Glu17806Lys) c.53413G>A (p.Glu17805Lys) c.52846G>A (p.Glu17616Lys) c.50188G>A (p.Glu16730Lys) c.50107G>A (p.Glu16703Lys) c.31870G>A (p.Glu10624Lys) c.21724G>A (p.Glu7242Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |