Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178593111A=CA1310540358TTN,TTN-AS1c.51332-28T= (n.51332-28T=)
c.32417-28T= (n.32417-28T=)
c.32216-28T= (n.32216-28T=)
c.31841-28T= (n.31841-28T=)
c.59036-28T= (n.59036-28T=)
c.54113-28T= (n.54113-28T=)
n.597-4485A=
n.3364+1797A=
c.58133-28T= (n.58133-28T=)
c.32027-28T= (n.32027-28T=)
c.31886-28T= (n.31886-28T=)
c.57929-28T= (n.57929-28T=)
c.53327-28T= (n.53327-28T=)
c.53324-28T= (n.53324-28T=)
c.50366-28T= (n.50366-28T=)
c.31982-28T= (n.31982-28T=)
c.53477-28T= (n.53477-28T=)
c.53474-28T= (n.53474-28T=)
c.52907-28T= (n.52907-28T=)
c.50249-28T= (n.50249-28T=)
c.50168-28T= (n.50168-28T=)
c.31931-28T= (n.31931-28T=)
c.21785-28T= (n.21785-28T=)
2g.178593111A>TCA60971135TTN,TTN-AS1c.51332-28T>A (n.51332-28T>A)
c.32417-28T>A (n.32417-28T>A)
c.32216-28T>A (n.32216-28T>A)
c.31841-28T>A (n.31841-28T>A)
c.59036-28T>A (n.59036-28T>A)
c.54113-28T>A (n.54113-28T>A)
n.597-4485A>T
n.3364+1797A>T
c.58133-28T>A (n.58133-28T>A)
c.32027-28T>A (n.32027-28T>A)
c.31886-28T>A (n.31886-28T>A)
c.57929-28T>A (n.57929-28T>A)
c.53327-28T>A (n.53327-28T>A)
c.53324-28T>A (n.53324-28T>A)
c.50366-28T>A (n.50366-28T>A)
c.31982-28T>A (n.31982-28T>A)
c.53477-28T>A (n.53477-28T>A)
c.53474-28T>A (n.53474-28T>A)
c.52907-28T>A (n.52907-28T>A)
c.50249-28T>A (n.50249-28T>A)
c.50168-28T>A (n.50168-28T>A)
c.31931-28T>A (n.31931-28T>A)
c.21785-28T>A (n.21785-28T>A)
 dbSNP
2g.178593112G>ACA2753331149TTN,TTN-AS1c.51332-29C>T (n.51332-29C>T)
c.32417-29C>T (n.32417-29C>T)
c.32216-29C>T (n.32216-29C>T)
c.31841-29C>T (n.31841-29C>T)
c.59036-29C>T (n.59036-29C>T)
c.54113-29C>T (n.54113-29C>T)
n.597-4484G>A
n.3364+1798G>A
c.58133-29C>T (n.58133-29C>T)
c.32027-29C>T (n.32027-29C>T)
c.31886-29C>T (n.31886-29C>T)
c.57929-29C>T (n.57929-29C>T)
c.53327-29C>T (n.53327-29C>T)
c.53324-29C>T (n.53324-29C>T)
c.50366-29C>T (n.50366-29C>T)
c.31982-29C>T (n.31982-29C>T)
c.53477-29C>T (n.53477-29C>T)
c.53474-29C>T (n.53474-29C>T)
c.52907-29C>T (n.52907-29C>T)
c.50249-29C>T (n.50249-29C>T)
c.50168-29C>T (n.50168-29C>T)
c.31931-29C>T (n.31931-29C>T)
c.21785-29C>T (n.21785-29C>T)
2g.178593112G>TCA2662130856TTN,TTN-AS1c.51332-29C>A (n.51332-29C>A)
c.32417-29C>A (n.32417-29C>A)
c.32216-29C>A (n.32216-29C>A)
c.31841-29C>A (n.31841-29C>A)
c.59036-29C>A (n.59036-29C>A)
c.54113-29C>A (n.54113-29C>A)
n.597-4484G>T
n.3364+1798G>T
c.58133-29C>A (n.58133-29C>A)
c.32027-29C>A (n.32027-29C>A)
c.31886-29C>A (n.31886-29C>A)
c.57929-29C>A (n.57929-29C>A)
c.53327-29C>A (n.53327-29C>A)
c.53324-29C>A (n.53324-29C>A)
c.50366-29C>A (n.50366-29C>A)
c.31982-29C>A (n.31982-29C>A)
c.53477-29C>A (n.53477-29C>A)
c.53474-29C>A (n.53474-29C>A)
c.52907-29C>A (n.52907-29C>A)
c.50249-29C>A (n.50249-29C>A)
c.50168-29C>A (n.50168-29C>A)
c.31931-29C>A (n.31931-29C>A)
c.21785-29C>A (n.21785-29C>A)
 gnomAD v4
2g.178593114A>CCA2662130857TTN,TTN-AS1c.51332-31T>G (n.51332-31T>G)
c.32417-31T>G (n.32417-31T>G)
c.32216-31T>G (n.32216-31T>G)
c.31841-31T>G (n.31841-31T>G)
c.59036-31T>G (n.59036-31T>G)
c.54113-31T>G (n.54113-31T>G)
n.597-4482A>C
n.3364+1800A>C
c.58133-31T>G (n.58133-31T>G)
c.32027-31T>G (n.32027-31T>G)
c.31886-31T>G (n.31886-31T>G)
c.57929-31T>G (n.57929-31T>G)
c.53327-31T>G (n.53327-31T>G)
c.53324-31T>G (n.53324-31T>G)
c.50366-31T>G (n.50366-31T>G)
c.31982-31T>G (n.31982-31T>G)
c.53477-31T>G (n.53477-31T>G)
c.53474-31T>G (n.53474-31T>G)
c.52907-31T>G (n.52907-31T>G)
c.50249-31T>G (n.50249-31T>G)
c.50168-31T>G (n.50168-31T>G)
c.31931-31T>G (n.31931-31T>G)
c.21785-31T>G (n.21785-31T>G)
 gnomAD v4
2g.178593115T>ACA1039713416TTN,TTN-AS1c.51332-32A>T (n.51332-32A>T)
c.32417-32A>T (n.32417-32A>T)
c.32216-32A>T (n.32216-32A>T)
c.31841-32A>T (n.31841-32A>T)
c.59036-32A>T (n.59036-32A>T)
c.54113-32A>T (n.54113-32A>T)
n.597-4481T>A
n.3364+1801T>A
c.58133-32A>T (n.58133-32A>T)
c.32027-32A>T (n.32027-32A>T)
c.31886-32A>T (n.31886-32A>T)
c.57929-32A>T (n.57929-32A>T)
c.53327-32A>T (n.53327-32A>T)
c.53324-32A>T (n.53324-32A>T)
c.50366-32A>T (n.50366-32A>T)
c.31982-32A>T (n.31982-32A>T)
c.53477-32A>T (n.53477-32A>T)
c.53474-32A>T (n.53474-32A>T)
c.52907-32A>T (n.52907-32A>T)
c.50249-32A>T (n.50249-32A>T)
c.50168-32A>T (n.50168-32A>T)
c.31931-32A>T (n.31931-32A>T)
c.21785-32A>T (n.21785-32A>T)
 dbSNP gnomAD v3 gnomAD v4
2g.178593115T=CA1310540359TTN,TTN-AS1c.51332-32A= (n.51332-32A=)
c.32417-32A= (n.32417-32A=)
c.32216-32A= (n.32216-32A=)
c.31841-32A= (n.31841-32A=)
c.59036-32A= (n.59036-32A=)
c.54113-32A= (n.54113-32A=)
n.597-4481T=
n.3364+1801T=
c.58133-32A= (n.58133-32A=)
c.32027-32A= (n.32027-32A=)
c.31886-32A= (n.31886-32A=)
c.57929-32A= (n.57929-32A=)
c.53327-32A= (n.53327-32A=)
c.53324-32A= (n.53324-32A=)
c.50366-32A= (n.50366-32A=)
c.31982-32A= (n.31982-32A=)
c.53477-32A= (n.53477-32A=)
c.53474-32A= (n.53474-32A=)
c.52907-32A= (n.52907-32A=)
c.50249-32A= (n.50249-32A=)
c.50168-32A= (n.50168-32A=)
c.31931-32A= (n.31931-32A=)
c.21785-32A= (n.21785-32A=)
2g.178593117T>CCA538435611TTN,TTN-AS1c.51332-34A>G (n.51332-34A>G)
c.32417-34A>G (n.32417-34A>G)
c.32216-34A>G (n.32216-34A>G)
c.31841-34A>G (n.31841-34A>G)
c.59036-34A>G (n.59036-34A>G)
c.54113-34A>G (n.54113-34A>G)
n.597-4479T>C
n.3364+1803T>C
c.58133-34A>G (n.58133-34A>G)
c.32027-34A>G (n.32027-34A>G)
c.31886-34A>G (n.31886-34A>G)
c.57929-34A>G (n.57929-34A>G)
c.53327-34A>G (n.53327-34A>G)
c.53324-34A>G (n.53324-34A>G)
c.50366-34A>G (n.50366-34A>G)
c.31982-34A>G (n.31982-34A>G)
c.53477-34A>G (n.53477-34A>G)
c.53474-34A>G (n.53474-34A>G)
c.52907-34A>G (n.52907-34A>G)
c.50249-34A>G (n.50249-34A>G)
c.50168-34A>G (n.50168-34A>G)
c.31931-34A>G (n.31931-34A>G)
c.21785-34A>G (n.21785-34A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.178593117T=CA1310540360TTN,TTN-AS1c.51332-34A= (n.51332-34A=)
c.32417-34A= (n.32417-34A=)
c.32216-34A= (n.32216-34A=)
c.31841-34A= (n.31841-34A=)
c.59036-34A= (n.59036-34A=)
c.54113-34A= (n.54113-34A=)
n.597-4479T=
n.3364+1803T=
c.58133-34A= (n.58133-34A=)
c.32027-34A= (n.32027-34A=)
c.31886-34A= (n.31886-34A=)
c.57929-34A= (n.57929-34A=)
c.53327-34A= (n.53327-34A=)
c.53324-34A= (n.53324-34A=)
c.50366-34A= (n.50366-34A=)
c.31982-34A= (n.31982-34A=)
c.53477-34A= (n.53477-34A=)
c.53474-34A= (n.53474-34A=)
c.52907-34A= (n.52907-34A=)
c.50249-34A= (n.50249-34A=)
c.50168-34A= (n.50168-34A=)
c.31931-34A= (n.31931-34A=)
c.21785-34A= (n.21785-34A=)
2g.178593119G>CCA2662130859TTN,TTN-AS1c.51332-36C>G (n.51332-36C>G)
c.32417-36C>G (n.32417-36C>G)
c.32216-36C>G (n.32216-36C>G)
c.31841-36C>G (n.31841-36C>G)
c.59036-36C>G (n.59036-36C>G)
c.54113-36C>G (n.54113-36C>G)
n.597-4477G>C
n.3364+1805G>C
c.58133-36C>G (n.58133-36C>G)
c.32027-36C>G (n.32027-36C>G)
c.31886-36C>G (n.31886-36C>G)
c.57929-36C>G (n.57929-36C>G)
c.53327-36C>G (n.53327-36C>G)
c.53324-36C>G (n.53324-36C>G)
c.50366-36C>G (n.50366-36C>G)
c.31982-36C>G (n.31982-36C>G)
c.53477-36C>G (n.53477-36C>G)
c.53474-36C>G (n.53474-36C>G)
c.52907-36C>G (n.52907-36C>G)
c.50249-36C>G (n.50249-36C>G)
c.50168-36C>G (n.50168-36C>G)
c.31931-36C>G (n.31931-36C>G)
c.21785-36C>G (n.21785-36C>G)
 gnomAD v4
2g.178593122G>ACA60971138TTN,TTN-AS1c.51332-39C>T (n.51332-39C>T)
c.32417-39C>T (n.32417-39C>T)
c.32216-39C>T (n.32216-39C>T)
c.31841-39C>T (n.31841-39C>T)
c.59036-39C>T (n.59036-39C>T)
c.54113-39C>T (n.54113-39C>T)
n.597-4474G>A
n.3364+1808G>A
c.58133-39C>T (n.58133-39C>T)
c.32027-39C>T (n.32027-39C>T)
c.31886-39C>T (n.31886-39C>T)
c.57929-39C>T (n.57929-39C>T)
c.53327-39C>T (n.53327-39C>T)
c.53324-39C>T (n.53324-39C>T)
c.50366-39C>T (n.50366-39C>T)
c.31982-39C>T (n.31982-39C>T)
c.53477-39C>T (n.53477-39C>T)
c.53474-39C>T (n.53474-39C>T)
c.52907-39C>T (n.52907-39C>T)
c.50249-39C>T (n.50249-39C>T)
c.50168-39C>T (n.50168-39C>T)
c.31931-39C>T (n.31931-39C>T)
c.21785-39C>T (n.21785-39C>T)
 dbSNP gnomAD v4
2g.178593122G>CCA2662130860TTN,TTN-AS1c.51332-39C>G (n.51332-39C>G)
c.32417-39C>G (n.32417-39C>G)
c.32216-39C>G (n.32216-39C>G)
c.31841-39C>G (n.31841-39C>G)
c.59036-39C>G (n.59036-39C>G)
c.54113-39C>G (n.54113-39C>G)
n.597-4474G>C
n.3364+1808G>C
c.58133-39C>G (n.58133-39C>G)
c.32027-39C>G (n.32027-39C>G)
c.31886-39C>G (n.31886-39C>G)
c.57929-39C>G (n.57929-39C>G)
c.53327-39C>G (n.53327-39C>G)
c.53324-39C>G (n.53324-39C>G)
c.50366-39C>G (n.50366-39C>G)
c.31982-39C>G (n.31982-39C>G)
c.53477-39C>G (n.53477-39C>G)
c.53474-39C>G (n.53474-39C>G)
c.52907-39C>G (n.52907-39C>G)
c.50249-39C>G (n.50249-39C>G)
c.50168-39C>G (n.50168-39C>G)
c.31931-39C>G (n.31931-39C>G)
c.21785-39C>G (n.21785-39C>G)
 gnomAD v4
2g.178593122G=CA1310540362TTN,TTN-AS1c.51332-39C= (n.51332-39C=)
c.32417-39C= (n.32417-39C=)
c.32216-39C= (n.32216-39C=)
c.31841-39C= (n.31841-39C=)
c.59036-39C= (n.59036-39C=)
c.54113-39C= (n.54113-39C=)
n.597-4474G=
n.3364+1808G=
c.58133-39C= (n.58133-39C=)
c.32027-39C= (n.32027-39C=)
c.31886-39C= (n.31886-39C=)
c.57929-39C= (n.57929-39C=)
c.53327-39C= (n.53327-39C=)
c.53324-39C= (n.53324-39C=)
c.50366-39C= (n.50366-39C=)
c.31982-39C= (n.31982-39C=)
c.53477-39C= (n.53477-39C=)
c.53474-39C= (n.53474-39C=)
c.52907-39C= (n.52907-39C=)
c.50249-39C= (n.50249-39C=)
c.50168-39C= (n.50168-39C=)
c.31931-39C= (n.31931-39C=)
c.21785-39C= (n.21785-39C=)
2g.178593123A>GCA2662130861TTN,TTN-AS1c.51332-40T>C (n.51332-40T>C)
c.32417-40T>C (n.32417-40T>C)
c.32216-40T>C (n.32216-40T>C)
c.31841-40T>C (n.31841-40T>C)
c.59036-40T>C (n.59036-40T>C)
c.54113-40T>C (n.54113-40T>C)
n.597-4473A>G
n.3364+1809A>G
c.58133-40T>C (n.58133-40T>C)
c.32027-40T>C (n.32027-40T>C)
c.31886-40T>C (n.31886-40T>C)
c.57929-40T>C (n.57929-40T>C)
c.53327-40T>C (n.53327-40T>C)
c.53324-40T>C (n.53324-40T>C)
c.50366-40T>C (n.50366-40T>C)
c.31982-40T>C (n.31982-40T>C)
c.53477-40T>C (n.53477-40T>C)
c.53474-40T>C (n.53474-40T>C)
c.52907-40T>C (n.52907-40T>C)
c.50249-40T>C (n.50249-40T>C)
c.50168-40T>C (n.50168-40T>C)
c.31931-40T>C (n.31931-40T>C)
c.21785-40T>C (n.21785-40T>C)
 gnomAD v4
2g.178593127C>ACA1310540364TTN,TTN-AS1c.51332-44G>T (n.51332-44G>T)
c.32417-44G>T (n.32417-44G>T)
c.32216-44G>T (n.32216-44G>T)
c.31841-44G>T (n.31841-44G>T)
c.59036-44G>T (n.59036-44G>T)
c.54113-44G>T (n.54113-44G>T)
n.597-4469C>A
n.3364+1813C>A
c.58133-44G>T (n.58133-44G>T)
c.32027-44G>T (n.32027-44G>T)
c.31886-44G>T (n.31886-44G>T)
c.57929-44G>T (n.57929-44G>T)
c.53327-44G>T (n.53327-44G>T)
c.53324-44G>T (n.53324-44G>T)
c.50366-44G>T (n.50366-44G>T)
c.31982-44G>T (n.31982-44G>T)
c.53477-44G>T (n.53477-44G>T)
c.53474-44G>T (n.53474-44G>T)
c.52907-44G>T (n.52907-44G>T)
c.50249-44G>T (n.50249-44G>T)
c.50168-44G>T (n.50168-44G>T)
c.31931-44G>T (n.31931-44G>T)
c.21785-44G>T (n.21785-44G>T)
 dbSNP
2g.178593127C=CA1310540363TTN,TTN-AS1c.51332-44G= (n.51332-44G=)
c.32417-44G= (n.32417-44G=)
c.32216-44G= (n.32216-44G=)
c.31841-44G= (n.31841-44G=)
c.59036-44G= (n.59036-44G=)
c.54113-44G= (n.54113-44G=)
n.597-4469C=
n.3364+1813C=
c.58133-44G= (n.58133-44G=)
c.32027-44G= (n.32027-44G=)
c.31886-44G= (n.31886-44G=)
c.57929-44G= (n.57929-44G=)
c.53327-44G= (n.53327-44G=)
c.53324-44G= (n.53324-44G=)
c.50366-44G= (n.50366-44G=)
c.31982-44G= (n.31982-44G=)
c.53477-44G= (n.53477-44G=)
c.53474-44G= (n.53474-44G=)
c.52907-44G= (n.52907-44G=)
c.50249-44G= (n.50249-44G=)
c.50168-44G= (n.50168-44G=)
c.31931-44G= (n.31931-44G=)
c.21785-44G= (n.21785-44G=)
2g.178593127C>GCA2662130862TTN,TTN-AS1c.51332-44G>C (n.51332-44G>C)
c.32417-44G>C (n.32417-44G>C)
c.32216-44G>C (n.32216-44G>C)
c.31841-44G>C (n.31841-44G>C)
c.59036-44G>C (n.59036-44G>C)
c.54113-44G>C (n.54113-44G>C)
n.597-4469C>G
n.3364+1813C>G
c.58133-44G>C (n.58133-44G>C)
c.32027-44G>C (n.32027-44G>C)
c.31886-44G>C (n.31886-44G>C)
c.57929-44G>C (n.57929-44G>C)
c.53327-44G>C (n.53327-44G>C)
c.53324-44G>C (n.53324-44G>C)
c.50366-44G>C (n.50366-44G>C)
c.31982-44G>C (n.31982-44G>C)
c.53477-44G>C (n.53477-44G>C)
c.53474-44G>C (n.53474-44G>C)
c.52907-44G>C (n.52907-44G>C)
c.50249-44G>C (n.50249-44G>C)
c.50168-44G>C (n.50168-44G>C)
c.31931-44G>C (n.31931-44G>C)
c.21785-44G>C (n.21785-44G>C)
 gnomAD v4
2g.178593127C>TCA1310540365TTN,TTN-AS1c.51332-44G>A (n.51332-44G>A)
c.32417-44G>A (n.32417-44G>A)
c.32216-44G>A (n.32216-44G>A)
c.31841-44G>A (n.31841-44G>A)
c.59036-44G>A (n.59036-44G>A)
c.54113-44G>A (n.54113-44G>A)
n.597-4469C>T
n.3364+1813C>T
c.58133-44G>A (n.58133-44G>A)
c.32027-44G>A (n.32027-44G>A)
c.31886-44G>A (n.31886-44G>A)
c.57929-44G>A (n.57929-44G>A)
c.53327-44G>A (n.53327-44G>A)
c.53324-44G>A (n.53324-44G>A)
c.50366-44G>A (n.50366-44G>A)
c.31982-44G>A (n.31982-44G>A)
c.53477-44G>A (n.53477-44G>A)
c.53474-44G>A (n.53474-44G>A)
c.52907-44G>A (n.52907-44G>A)
c.50249-44G>A (n.50249-44G>A)
c.50168-44G>A (n.50168-44G>A)
c.31931-44G>A (n.31931-44G>A)
c.21785-44G>A (n.21785-44G>A)
 dbSNP
2g.178593128A=CA1310540367TTN,TTN-AS1c.51332-45T= (n.51332-45T=)
c.32417-45T= (n.32417-45T=)
c.32216-45T= (n.32216-45T=)
c.31841-45T= (n.31841-45T=)
c.59036-45T= (n.59036-45T=)
c.54113-45T= (n.54113-45T=)
n.597-4468A=
n.3364+1814A=
c.58133-45T= (n.58133-45T=)
c.32027-45T= (n.32027-45T=)
c.31886-45T= (n.31886-45T=)
c.57929-45T= (n.57929-45T=)
c.53327-45T= (n.53327-45T=)
c.53324-45T= (n.53324-45T=)
c.50366-45T= (n.50366-45T=)
c.31982-45T= (n.31982-45T=)
c.53477-45T= (n.53477-45T=)
c.53474-45T= (n.53474-45T=)
c.52907-45T= (n.52907-45T=)
c.50249-45T= (n.50249-45T=)
c.50168-45T= (n.50168-45T=)
c.31931-45T= (n.31931-45T=)
c.21785-45T= (n.21785-45T=)
2g.178593128A>GCA1992731TTN,TTN-AS1c.51332-45T>C (n.51332-45T>C)
c.32417-45T>C (n.32417-45T>C)
c.32216-45T>C (n.32216-45T>C)
c.31841-45T>C (n.31841-45T>C)
c.59036-45T>C (n.59036-45T>C)
c.54113-45T>C (n.54113-45T>C)
n.597-4468A>G
n.3364+1814A>G
c.58133-45T>C (n.58133-45T>C)
c.32027-45T>C (n.32027-45T>C)
c.31886-45T>C (n.31886-45T>C)
c.57929-45T>C (n.57929-45T>C)
c.53327-45T>C (n.53327-45T>C)
c.53324-45T>C (n.53324-45T>C)
c.50366-45T>C (n.50366-45T>C)
c.31982-45T>C (n.31982-45T>C)
c.53477-45T>C (n.53477-45T>C)
c.53474-45T>C (n.53474-45T>C)
c.52907-45T>C (n.52907-45T>C)
c.50249-45T>C (n.50249-45T>C)
c.50168-45T>C (n.50168-45T>C)
c.31931-45T>C (n.31931-45T>C)
c.21785-45T>C (n.21785-45T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178593129A=CA1310540368TTN,TTN-AS1c.51331+44T= (n.51331+44T=)
c.32416+44T= (n.32416+44T=)
c.32215+44T= (n.32215+44T=)
c.31840+44T= (n.31840+44T=)
c.59035+44T= (n.59035+44T=)
c.54112+44T= (n.54112+44T=)
n.597-4467A=
n.3364+1815A=
c.58132+44T= (n.58132+44T=)
c.32026+44T= (n.32026+44T=)
c.31885+44T= (n.31885+44T=)
c.57928+44T= (n.57928+44T=)
c.53326+44T= (n.53326+44T=)
c.53323+44T= (n.53323+44T=)
c.50365+44T= (n.50365+44T=)
c.31981+44T= (n.31981+44T=)
c.53476+44T= (n.53476+44T=)
c.53473+44T= (n.53473+44T=)
c.52906+44T= (n.52906+44T=)
c.50248+44T= (n.50248+44T=)
c.50167+44T= (n.50167+44T=)
c.31930+44T= (n.31930+44T=)
c.21784+44T= (n.21784+44T=)
2g.178593129A>GCA1992732TTN,TTN-AS1c.51331+44T>C (n.51331+44T>C)
c.32416+44T>C (n.32416+44T>C)
c.32215+44T>C (n.32215+44T>C)
c.31840+44T>C (n.31840+44T>C)
c.59035+44T>C (n.59035+44T>C)
c.54112+44T>C (n.54112+44T>C)
n.597-4467A>G
n.3364+1815A>G
c.58132+44T>C (n.58132+44T>C)
c.32026+44T>C (n.32026+44T>C)
c.31885+44T>C (n.31885+44T>C)
c.57928+44T>C (n.57928+44T>C)
c.53326+44T>C (n.53326+44T>C)
c.53323+44T>C (n.53323+44T>C)
c.50365+44T>C (n.50365+44T>C)
c.31981+44T>C (n.31981+44T>C)
c.53476+44T>C (n.53476+44T>C)
c.53473+44T>C (n.53473+44T>C)
c.52906+44T>C (n.52906+44T>C)
c.50248+44T>C (n.50248+44T>C)
c.50167+44T>C (n.50167+44T>C)
c.31930+44T>C (n.31930+44T>C)
c.21784+44T>C (n.21784+44T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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.178593130A=CA1310540371TTN,TTN-AS1c.51331+43T= (n.51331+43T=)
c.32416+43T= (n.32416+43T=)
c.32215+43T= (n.32215+43T=)
c.31840+43T= (n.31840+43T=)
c.59035+43T= (n.59035+43T=)
c.54112+43T= (n.54112+43T=)
n.597-4466A=
n.3364+1816A=
c.58132+43T= (n.58132+43T=)
c.32026+43T= (n.32026+43T=)
c.31885+43T= (n.31885+43T=)
c.57928+43T= (n.57928+43T=)
c.53326+43T= (n.53326+43T=)
c.53323+43T= (n.53323+43T=)
c.50365+43T= (n.50365+43T=)
c.31981+43T= (n.31981+43T=)
c.53476+43T= (n.53476+43T=)
c.53473+43T= (n.53473+43T=)
c.52906+43T= (n.52906+43T=)
c.50248+43T= (n.50248+43T=)
c.50167+43T= (n.50167+43T=)
c.31930+43T= (n.31930+43T=)
c.21784+43T= (n.21784+43T=)
2g.178593130A>CCA2662130863TTN,TTN-AS1c.51331+43T>G (n.51331+43T>G)
c.32416+43T>G (n.32416+43T>G)
c.32215+43T>G (n.32215+43T>G)
c.31840+43T>G (n.31840+43T>G)
c.59035+43T>G (n.59035+43T>G)
c.54112+43T>G (n.54112+43T>G)
n.597-4466A>C
n.3364+1816A>C
c.58132+43T>G (n.58132+43T>G)
c.32026+43T>G (n.32026+43T>G)
c.31885+43T>G (n.31885+43T>G)
c.57928+43T>G (n.57928+43T>G)
c.53326+43T>G (n.53326+43T>G)
c.53323+43T>G (n.53323+43T>G)
c.50365+43T>G (n.50365+43T>G)
c.31981+43T>G (n.31981+43T>G)
c.53476+43T>G (n.53476+43T>G)
c.53473+43T>G (n.53473+43T>G)
c.52906+43T>G (n.52906+43T>G)
c.50248+43T>G (n.50248+43T>G)
c.50167+43T>G (n.50167+43T>G)
c.31930+43T>G (n.31930+43T>G)
c.21784+43T>G (n.21784+43T>G)
 gnomAD v4
2g.178593130A>TCA1039713417TTN,TTN-AS1c.51331+43T>A (n.51331+43T>A)
c.32416+43T>A (n.32416+43T>A)
c.32215+43T>A (n.32215+43T>A)
c.31840+43T>A (n.31840+43T>A)
c.59035+43T>A (n.59035+43T>A)
c.54112+43T>A (n.54112+43T>A)
n.597-4466A>T
n.3364+1816A>T
c.58132+43T>A (n.58132+43T>A)
c.32026+43T>A (n.32026+43T>A)
c.31885+43T>A (n.31885+43T>A)
c.57928+43T>A (n.57928+43T>A)
c.53326+43T>A (n.53326+43T>A)
c.53323+43T>A (n.53323+43T>A)
c.50365+43T>A (n.50365+43T>A)
c.31981+43T>A (n.31981+43T>A)
c.53476+43T>A (n.53476+43T>A)
c.53473+43T>A (n.53473+43T>A)
c.52906+43T>A (n.52906+43T>A)
c.50248+43T>A (n.50248+43T>A)
c.50167+43T>A (n.50167+43T>A)
c.31930+43T>A (n.31930+43T>A)
c.21784+43T>A (n.21784+43T>A)
 dbSNP gnomAD v3 gnomAD v4
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)

Number of alleles fetched