Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178593129_178593133delinsAAGTTCA1310540369TTN,TTN-AS1c.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)
2g.178593132_178593135delCA1992733TTN,TTN-AS1c.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
2g.178593132T>GCA538435612TTN,TTN-AS1c.51331+41A>C (n.51331+41A>C)
c.32416+41A>C (n.32416+41A>C)
c.32215+41A>C (n.32215+41A>C)
c.31840+41A>C (n.31840+41A>C)
c.59035+41A>C (n.59035+41A>C)
c.54112+41A>C (n.54112+41A>C)
n.597-4464T>G
n.3364+1818T>G
c.58132+41A>C (n.58132+41A>C)
c.32026+41A>C (n.32026+41A>C)
c.31885+41A>C (n.31885+41A>C)
c.57928+41A>C (n.57928+41A>C)
c.53326+41A>C (n.53326+41A>C)
c.53323+41A>C (n.53323+41A>C)
c.50365+41A>C (n.50365+41A>C)
c.31981+41A>C (n.31981+41A>C)
c.53476+41A>C (n.53476+41A>C)
c.53473+41A>C (n.53473+41A>C)
c.52906+41A>C (n.52906+41A>C)
c.50248+41A>C (n.50248+41A>C)
c.50167+41A>C (n.50167+41A>C)
c.31930+41A>C (n.31930+41A>C)
c.21784+41A>C (n.21784+41A>C)
 dbSNP gnomAD v2 gnomAD v4
2g.178593132T=CA1310540372TTN,TTN-AS1c.51331+41A= (n.51331+41A=)
c.32416+41A= (n.32416+41A=)
c.32215+41A= (n.32215+41A=)
c.31840+41A= (n.31840+41A=)
c.59035+41A= (n.59035+41A=)
c.54112+41A= (n.54112+41A=)
n.597-4464T=
n.3364+1818T=
c.58132+41A= (n.58132+41A=)
c.32026+41A= (n.32026+41A=)
c.31885+41A= (n.31885+41A=)
c.57928+41A= (n.57928+41A=)
c.53326+41A= (n.53326+41A=)
c.53323+41A= (n.53323+41A=)
c.50365+41A= (n.50365+41A=)
c.31981+41A= (n.31981+41A=)
c.53476+41A= (n.53476+41A=)
c.53473+41A= (n.53473+41A=)
c.52906+41A= (n.52906+41A=)
c.50248+41A= (n.50248+41A=)
c.50167+41A= (n.50167+41A=)
c.31930+41A= (n.31930+41A=)
c.21784+41A= (n.21784+41A=)
2g.178593133T>CCA538435613TTN,TTN-AS1c.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
2g.178593133T=CA1310540373TTN,TTN-AS1c.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=)
2g.178593135G>CCA60971144TTN,TTN-AS1c.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
2g.178593135G=CA1310540375TTN,TTN-AS1c.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=)
2g.178593136delCA2662130864TTN,TTN-AS1c.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
2g.178593138A>GCA2662130865TTN,TTN-AS1c.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
2g.178593140C=CA1310540376TTN,TTN-AS1c.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=)
2g.178593140C>GCA1992734TTN,TTN-AS1c.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
2g.178593141A=CA1310540378TTN,TTN-AS1c.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=)
2g.178593141A>GCA1992735TTN,TTN-AS1c.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
2g.178593146A>GCA2662130866TTN,TTN-AS1c.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
2g.178593148C=CA1310540380TTN,TTN-AS1c.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=)
2g.178593148C>TCA538435614TTN,TTN-AS1c.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
2g.178593149T>ACA1992736TTN,TTN-AS1c.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
2g.178593149T=CA1310540382TTN,TTN-AS1c.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=)
2g.178593149_178593150delCA2662130867TTN,TTN-AS1c.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
2g.178593150G>ACA1992737TTN,TTN-AS1c.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
2g.178593150G=CA1310540383TTN,TTN-AS1c.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=)
2g.178593152A=CA1310540385TTN,TTN-AS1c.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=)
2g.178593152A>GCA538435615TTN,TTN-AS1c.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
2g.178593158C>TCA2577170689TTN,TTN-AS1c.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)
2g.178593159C>ACA2662130868TTN,TTN-AS1c.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
2g.178593159C>TCA2580064893TTN,TTN-AS1c.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
2g.178593160A=CA1310540386TTN,TTN-AS1c.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=)
2g.178593160A>GCA538435605TTN,TTN-AS1c.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
2g.178593161T>CCA2662130869TTN,TTN-AS1c.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
2g.178593164A>GCA2662130870TTN,TTN-AS1c.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
2g.178593164_178593167delinsATACCA1310540387TTN,TTN-AS1c.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)
2g.178593165T>ACA1310540390TTN,TTN-AS1c.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
2g.178593165T>CCA1310540391TTN,TTN-AS1c.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
2g.178593165T=CA1310540389TTN,TTN-AS1c.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=)
2g.178593167_178593169delCA658657142TTN,TTN-AS1c.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
2g.178593167C=CA1310540392TTN,TTN-AS1c.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=)
2g.178593167C>TCA60971151TTN,TTN-AS1c.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
2g.178593170T>ACA2662130871TTN,TTN-AS1c.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
2g.178593170T>CCA538435606TTN,TTN-AS1c.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
2g.178593170T=CA1310540394TTN,TTN-AS1c.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=)
2g.178593171A=CA1310540396TTN,TTN-AS1c.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=)
2g.178593171A>CCA349499667TTN,TTN-AS1c.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)
2g.178593171A>GCA1992738TTN,TTN-AS1c.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
2g.178593171A>TCA349499675TTN,TTN-AS1c.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)
2g.178593172C>ACA349499676TTN,TTN-AS1c.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
2g.178593172C=CA1310540398TTN,TTN-AS1c.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=)
2g.178593172C>GCA349499677TTN,TTN-AS1c.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
2g.178593172C>TCA349499681TTN,TTN-AS1c.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)
2g.178593173C>ACA349499686TTN,TTN-AS1c.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)
2g.178593173C>GCA349499690TTN,TTN-AS1c.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)
2g.178593173C>TCA349499685TTN,TTN-AS1c.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
2g.178593174A>CCA349499707TTN,TTN-AS1c.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)
2g.178593174A>GCA430267278TTN,TTN-AS1c.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=)
2g.178593174A>TCA430267277TTN,TTN-AS1c.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=)
2g.178593175A=CA1310540399TTN,TTN-AS1c.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=)
2g.178593175A>CCA349499709TTN,TTN-AS1c.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
2g.178593175A>GCA1992739TTN,TTN-AS1c.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
2g.178593175A>TCA349499734TTN,TTN-AS1c.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)
2g.178593176T>ACA349499748TTN,TTN-AS1c.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)
2g.178593176T>CCA1992740TTN,TTN-AS1c.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
2g.178593176T>GCA349499745TTN,TTN-AS1c.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)
2g.178593176T=CA1310540401TTN,TTN-AS1c.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=)
2g.178593177T>ACA430267288TTN,TTN-AS1c.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=)
2g.178593177T>CCA10603837TTN,TTN-AS1c.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
2g.178593177T>GCA430267289TTN,TTN-AS1c.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=)
2g.178593177T=CA1310540403TTN,TTN-AS1c.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=)
2g.178593178G>ACA349499753TTN,TTN-AS1c.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)
2g.178593178G>CCA349499757TTN,TTN-AS1c.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)
2g.178593178G>TCA349499767TTN,TTN-AS1c.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
2g.178593179G>ACA349499772TTN,TTN-AS1c.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
2g.178593179G>CCA349499773TTN,TTN-AS1c.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)
2g.178593179G=CA1310540405TTN,TTN-AS1c.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=)
2g.178593179G>TCA349499774TTN,TTN-AS1c.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)
2g.178593180A>CCA349499778TTN,TTN-AS1c.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)
2g.178593180A>GCA430267294TTN,TTN-AS1c.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=)
2g.178593180A>TCA349499777TTN,TTN-AS1c.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
2g.178593181T>ACA349499782TTN,TTN-AS1c.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)
2g.178593181T>CCA349499793TTN,TTN-AS1c.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)
2g.178593181T>GCA349499784TTN,TTN-AS1c.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)
2g.178593182C>ACA1992741TTN,TTN-AS1c.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
2g.178593182C=CA1310540408TTN,TTN-AS1c.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=)
2g.178593182C>GCA349499809TTN,TTN-AS1c.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)
2g.178593182C>TCA349499805TTN,TTN-AS1c.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)
2g.178593183T>ACA349499815TTN,TTN-AS1c.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)
2g.178593183T>CCA430267303TTN,TTN-AS1c.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=)
2g.178593183T>GCA349499828TTN,TTN-AS1c.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)
2g.178593184T>ACA349499832TTN,TTN-AS1c.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)
2g.178593184T>CCA349499835TTN,TTN-AS1c.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)
2g.178593184T>GCA349499834TTN,TTN-AS1c.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)
2g.178593185T>ACA349499836TTN,TTN-AS1c.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)
2g.178593185T>CCA349499837TTN,TTN-AS1c.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)
2g.178593185T>GCA349499838TTN,TTN-AS1c.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)
2g.178593186A>CCA430267308TTN,TTN-AS1c.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=)
2g.178593186A>GCA430267309TTN,TTN-AS1c.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=)
2g.178593186A>TCA430267310TTN,TTN-AS1c.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=)
2g.178593187G>ACA349499841TTN,TTN-AS1c.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)
2g.178593187G>CCA349499845TTN,TTN-AS1c.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)
2g.178593187G=CA1310540411TTN,TTN-AS1c.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=)
2g.178593187G>TCA1992742TTN,TTN-AS1c.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
2g.178593188C>ACA349499848TTN,TTN-AS1c.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)
2g.178593188C>GCA349499849TTN,TTN-AS1c.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)
2g.178593188C>TCA349499851TTN,TTN-AS1c.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)
2g.178593189A>CCA349499854TTN,TTN-AS1c.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)
2g.178593189A>GCA430267316TTN,TTN-AS1c.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=)
2g.178593189A>TCA349499858TTN,TTN-AS1c.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)
2g.178593190A>CCA349499862TTN,TTN-AS1c.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)
2g.178593190A>GCA349499871TTN,TTN-AS1c.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)
2g.178593190A>TCA349499869TTN,TTN-AS1c.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)
2g.178593191A>CCA349499880TTN,TTN-AS1c.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)
2g.178593191A>GCA349499884TTN,TTN-AS1c.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)
2g.178593191A>TCA349499891TTN,TTN-AS1c.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)
2g.178593192G>ACA430267321TTN,TTN-AS1c.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=)
2g.178593192G>CCA430267324TTN,TTN-AS1c.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=)
2g.178593192G>TCA430267323TTN,TTN-AS1c.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=)
2g.178593193A=CA1310540412TTN,TTN-AS1c.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=)
2g.178593193A>CCA349499905TTN,TTN-AS1c.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)
2g.178593193A>GCA349499929TTN,TTN-AS1c.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
2g.178593193A>TCA349499932TTN,TTN-AS1c.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
2g.178593194C>ACA349499941TTN,TTN-AS1c.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)
2g.178593194C>GCA349499944TTN,TTN-AS1c.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)
2g.178593194C>TCA349499950TTN,TTN-AS1c.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)
2g.178593195T>ACA430267329TTN,TTN-AS1c.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=)
2g.178593195T>CCA430267330TTN,TTN-AS1c.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=)
2g.178593195T>GCA430267331TTN,TTN-AS1c.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=)
2g.178593196G>ACA349499956TTN,TTN-AS1c.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)
2g.178593196G>CCA349499959TTN,TTN-AS1c.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)
2g.178593196G>TCA349499952TTN,TTN-AS1c.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)
2g.178593197G>ACA349499964TTN,TTN-AS1c.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
2g.178593197G>CCA349499967TTN,TTN-AS1c.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
2g.178593197G=CA1310540414TTN,TTN-AS1c.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=)
2g.178593197G>TCA349499969TTN,TTN-AS1c.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)
2g.178593198T>ACA349499974TTN,TTN-AS1c.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
2g.178593198T>CCA430267337TTN,TTN-AS1c.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=)
2g.178593198T>GCA349499978TTN,TTN-AS1c.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)
2g.178593198T=CA1310540416TTN,TTN-AS1c.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=)
2g.178593198_178593211delinsTTTGGATGGTGGGCCA1310540418TTN,TTN-AS1c.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=)
2g.178593199T>ACA349499982TTN,TTN-AS1c.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)
2g.178593199T>CCA349499984TTN,TTN-AS1c.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)
2g.178593199T>GCA349499985TTN,TTN-AS1c.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)
2g.178593205_178593217delCA1139655664TTN,TTN-AS1c.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
2g.178593200T>ACA349499986TTN,TTN-AS1c.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)
2g.178593200T>CCA349499988TTN,TTN-AS1c.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)
2g.178593200T>GCA349499993TTN,TTN-AS1c.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)
2g.178593201G>ACA430267341TTN,TTN-AS1c.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=)
2g.178593201G>CCA430267342TTN,TTN-AS1c.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
2g.178593201G=CA1310540421TTN,TTN-AS1c.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=)
2g.178593201G>TCA1992743TTN,TTN-AS1c.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
2g.178593202G>ACA349500004TTN,TTN-AS1c.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)
2g.178593202G>CCA349500000TTN,TTN-AS1c.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)
2g.178593202G>TCA349500001TTN,TTN-AS1c.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)
2g.178593203A=CA1310540423TTN,TTN-AS1c.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=)
2g.178593203A>CCA349500006TTN,TTN-AS1c.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)
2g.178593203A>GCA349500009TTN,TTN-AS1c.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
2g.178593203A>TCA349500013TTN,TTN-AS1c.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
2g.178593204T>ACA430267345TTN,TTN-AS1c.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=)
2g.178593204T>CCA430267346TTN,TTN-AS1c.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=)
2g.178593204T>GCA430267347TTN,TTN-AS1c.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=)
2g.178593205G>ACA310140TTN,TTN-AS1c.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
2g.178593205G>CCA349500016TTN,TTN-AS1c.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)
2g.178593205G=CA1310540424TTN,TTN-AS1c.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=)
2g.178593205G>TCA349500018TTN,TTN-AS1c.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
2g.178593206G>ACA349500024TTN,TTN-AS1c.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
2g.178593206G>CCA349500026TTN,TTN-AS1c.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)
2g.178593206G>TCA349500030TTN,TTN-AS1c.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
2g.178593207T>ACA430267351TTN,TTN-AS1c.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=)
2g.178593207T>CCA430267352TTN,TTN-AS1c.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=)
2g.178593207T>GCA430267353TTN,TTN-AS1c.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=)
2g.178593208G>ACA349500036TTN,TTN-AS1c.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)
2g.178593208G>CCA349500037TTN,TTN-AS1c.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)
2g.178593208G>TCA349500038TTN,TTN-AS1c.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)
2g.178593209G>ACA349500040TTN,TTN-AS1c.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)
2g.178593209G>CCA349500042TTN,TTN-AS1c.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)
2g.178593209G>TCA349500039TTN,TTN-AS1c.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)
2g.178593210G>ACA430267355TTN,TTN-AS1c.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=)
2g.178593210G>CCA349500045TTN,TTN-AS1c.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)
2g.178593210G>TCA349500044TTN,TTN-AS1c.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)
2g.178593211C>ACA349500046TTN,TTN-AS1c.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)
2g.178593211C>GCA349500047TTN,TTN-AS1c.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
2g.178593211C>TCA349500051TTN,TTN-AS1c.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)
2g.178593212T>ACA349500052TTN,TTN-AS1c.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)
2g.178593212T>CCA1992745TTN,TTN-AS1c.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
2g.178593212T>GCA1992744TTN,TTN-AS1c.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
2g.178593212T=CA1310540426TTN,TTN-AS1c.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=)
2g.178593213T>ACA430267361TTN,TTN-AS1c.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=)
2g.178593213T>CCA430267360TTN,TTN-AS1c.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
2g.178593213T>GCA430267359TTN,TTN-AS1c.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=)
2g.178593214G>ACA349500055TTN,TTN-AS1c.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)
2g.178593214G>CCA349500058TTN,TTN-AS1c.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)
2g.178593214G>TCA349500061TTN,TTN-AS1c.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)
2g.178593215G>ACA349500066TTN,TTN-AS1c.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)
2g.178593215G>CCA349500067TTN,TTN-AS1c.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)
2g.178593215G>TCA349500070TTN,TTN-AS1c.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)
2g.178593216A=CA1310540428TTN,TTN-AS1c.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=)
2g.178593216A>CCA349500072TTN,TTN-AS1c.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)
2g.178593216A>GCA430267365TTN,TTN-AS1c.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=)
2g.178593216A>TCA1992746TTN,TTN-AS1c.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
2g.178593217T>ACA349500089TTN,TTN-AS1c.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)
2g.178593217T>CCA349500090TTN,TTN-AS1c.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)
2g.178593217T>GCA349500091TTN,TTN-AS1c.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)
2g.178593218C>ACA349500092TTN,TTN-AS1c.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)
2g.178593218C=CA1310540431TTN,TTN-AS1c.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=)
2g.178593218C>GCA349500093TTN,TTN-AS1c.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)
2g.178593218C>TCA60971207TTN,TTN-AS1c.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
2g.178593219T>ACA430267367TTN,TTN-AS1c.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=)
2g.178593219T>CCA430267369TTN,TTN-AS1c.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=)
2g.178593219T>GCA430267368TTN,TTN-AS1c.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=)
2g.178593220C>ACA349500095TTN,TTN-AS1c.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)
2g.178593220C>GCA349500099TTN,TTN-AS1c.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)
2g.178593220C>TCA349500102TTN,TTN-AS1c.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
2g.178593221C>ACA349500105TTN,TTN-AS1c.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)
2g.178593221C>GCA349500110TTN,TTN-AS1c.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)
2g.178593221C>TCA349500114TTN,TTN-AS1c.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)
2g.178593222A=CA1310540433TTN,TTN-AS1c.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=)
2g.178593222A>CCA349500118TTN,TTN-AS1c.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)
2g.178593222A>GCA60971208TTN,TTN-AS1c.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
2g.178593222A>TCA430267373TTN,TTN-AS1c.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=)
2g.178593223A>CCA349500119TTN,TTN-AS1c.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)
2g.178593223A>GCA349500120TTN,TTN-AS1c.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
2g.178593223A>TCA349500121TTN,TTN-AS1c.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)
2g.178593224T>ACA349500122TTN,TTN-AS1c.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
2g.178593224T>CCA10611651TTN,TTN-AS1c.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
2g.178593224T>GCA349500123TTN,TTN-AS1c.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)
2g.178593224T=CA1310540435TTN,TTN-AS1c.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=)
2g.178593225A=CA1310540437TTN,TTN-AS1c.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=)
2g.178593225A>CCA430267375TTN,TTN-AS1c.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=)
2g.178593225A>GCA430267376TTN,TTN-AS1c.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=)
2g.178593225A>TCA430267377TTN,TTN-AS1c.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
2g.178593226C>ACA349500124TTN,TTN-AS1c.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)
2g.178593226C=CA1310540438TTN,TTN-AS1c.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=)
2g.178593226C>GCA349500125TTN,TTN-AS1c.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)
2g.178593226C>TCA140115TTN,TTN-AS1c.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
2g.178593227C>ACA349500126TTN,TTN-AS1c.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)
2g.178593227C>GCA349500127TTN,TTN-AS1c.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)
2g.178593227C>TCA349500128TTN,TTN-AS1c.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
2g.178593228A=CA1310540440TTN,TTN-AS1c.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=)
2g.178593228A>CCA1992747TTN,TTN-AS1c.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
2g.178593228A>GCA430267384TTN,TTN-AS1c.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=)
2g.178593228A>TCA430267385TTN,TTN-AS1c.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=)
2g.178593229A=CA1310540442TTN,TTN-AS1c.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=)
2g.178593229A>CCA349500132TTN,TTN-AS1c.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)
2g.178593229A>GCA60971219TTN,TTN-AS1c.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
2g.178593229A>TCA349500131TTN,TTN-AS1c.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)
2g.178593230T>ACA349500135TTN,TTN-AS1c.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)
2g.178593230T>CCA349500138TTN,TTN-AS1c.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)
2g.178593230T>GCA349500143TTN,TTN-AS1c.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)
2g.178593231T>ACA349500148TTN,TTN-AS1c.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)
2g.178593231T>CCA430267392TTN,TTN-AS1c.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=)
2g.178593231T>GCA349500152TTN,TTN-AS1c.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
2g.178593232T>ACA349500161TTN,TTN-AS1c.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)
2g.178593232T>CCA349500155TTN,TTN-AS1c.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)
2g.178593232T>GCA349500159TTN,TTN-AS1c.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)

Number of alleles fetched