Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178544359T>ACA349456569TTN,TTN-AS1c.88166A>T (p.Tyr29389Phe)
c.69251A>T (p.Tyr23084Phe)
c.69050A>T (p.Tyr23017Phe)
c.68675A>T (p.Tyr22892Phe)
c.95870A>T (p.Tyr31957Phe)
c.90947A>T (p.Tyr30316Phe)
n.446+20723T>A
n.2043+1998T>A
c.94967A>T (p.Tyr31656Phe)
c.68861A>T (p.Tyr22954Phe)
c.68720A>T (p.Tyr22907Phe)
c.94763A>T (p.Tyr31588Phe)
c.90161A>T (p.Tyr30054Phe)
c.90158A>T (p.Tyr30053Phe)
c.87200A>T (p.Tyr29067Phe)
c.68816A>T (p.Tyr22939Phe)
c.90311A>T (p.Tyr30104Phe)
c.90308A>T (p.Tyr30103Phe)
c.89741A>T (p.Tyr29914Phe)
c.87083A>T (p.Tyr29028Phe)
c.87002A>T (p.Tyr29001Phe)
c.68765A>T (p.Tyr22922Phe)
c.58619A>T (p.Tyr19540Phe)
2g.178544359T>CCA349456570TTN,TTN-AS1c.88166A>G (p.Tyr29389Cys)
c.69251A>G (p.Tyr23084Cys)
c.69050A>G (p.Tyr23017Cys)
c.68675A>G (p.Tyr22892Cys)
c.95870A>G (p.Tyr31957Cys)
c.90947A>G (p.Tyr30316Cys)
n.446+20723T>C
n.2043+1998T>C
c.94967A>G (p.Tyr31656Cys)
c.68861A>G (p.Tyr22954Cys)
c.68720A>G (p.Tyr22907Cys)
c.94763A>G (p.Tyr31588Cys)
c.90161A>G (p.Tyr30054Cys)
c.90158A>G (p.Tyr30053Cys)
c.87200A>G (p.Tyr29067Cys)
c.68816A>G (p.Tyr22939Cys)
c.90311A>G (p.Tyr30104Cys)
c.90308A>G (p.Tyr30103Cys)
c.89741A>G (p.Tyr29914Cys)
c.87083A>G (p.Tyr29028Cys)
c.87002A>G (p.Tyr29001Cys)
c.68765A>G (p.Tyr22922Cys)
c.58619A>G (p.Tyr19540Cys)
2g.178544359T>GCA349456571TTN,TTN-AS1c.88166A>C (p.Tyr29389Ser)
c.69251A>C (p.Tyr23084Ser)
c.69050A>C (p.Tyr23017Ser)
c.68675A>C (p.Tyr22892Ser)
c.95870A>C (p.Tyr31957Ser)
c.90947A>C (p.Tyr30316Ser)
n.446+20723T>G
n.2043+1998T>G
c.94967A>C (p.Tyr31656Ser)
c.68861A>C (p.Tyr22954Ser)
c.68720A>C (p.Tyr22907Ser)
c.94763A>C (p.Tyr31588Ser)
c.90161A>C (p.Tyr30054Ser)
c.90158A>C (p.Tyr30053Ser)
c.87200A>C (p.Tyr29067Ser)
c.68816A>C (p.Tyr22939Ser)
c.90311A>C (p.Tyr30104Ser)
c.90308A>C (p.Tyr30103Ser)
c.89741A>C (p.Tyr29914Ser)
c.87083A>C (p.Tyr29028Ser)
c.87002A>C (p.Tyr29001Ser)
c.68765A>C (p.Tyr22922Ser)
c.58619A>C (p.Tyr19540Ser)
2g.178544360A=CA1310521542TTN,TTN-AS1c.88165T= (p.Tyr29389=)
c.69250T= (p.Tyr23084=)
c.69049T= (p.Tyr23017=)
c.68674T= (p.Tyr22892=)
c.95869T= (p.Tyr31957=)
c.90946T= (p.Tyr30316=)
n.446+20724A=
n.2043+1999A=
c.94966T= (p.Tyr31656=)
c.68860T= (p.Tyr22954=)
c.68719T= (p.Tyr22907=)
c.94762T= (p.Tyr31588=)
c.90160T= (p.Tyr30054=)
c.90157T= (p.Tyr30053=)
c.87199T= (p.Tyr29067=)
c.68815T= (p.Tyr22939=)
c.90310T= (p.Tyr30104=)
c.90307T= (p.Tyr30103=)
c.89740T= (p.Tyr29914=)
c.87082T= (p.Tyr29028=)
c.87001T= (p.Tyr29001=)
c.68764T= (p.Tyr22922=)
c.58618T= (p.Tyr19540=)
2g.178544360A>CCA349456572TTN,TTN-AS1c.88165T>G (p.Tyr29389Asp)
c.69250T>G (p.Tyr23084Asp)
c.69049T>G (p.Tyr23017Asp)
c.68674T>G (p.Tyr22892Asp)
c.95869T>G (p.Tyr31957Asp)
c.90946T>G (p.Tyr30316Asp)
n.446+20724A>C
n.2043+1999A>C
c.94966T>G (p.Tyr31656Asp)
c.68860T>G (p.Tyr22954Asp)
c.68719T>G (p.Tyr22907Asp)
c.94762T>G (p.Tyr31588Asp)
c.90160T>G (p.Tyr30054Asp)
c.90157T>G (p.Tyr30053Asp)
c.87199T>G (p.Tyr29067Asp)
c.68815T>G (p.Tyr22939Asp)
c.90310T>G (p.Tyr30104Asp)
c.90307T>G (p.Tyr30103Asp)
c.89740T>G (p.Tyr29914Asp)
c.87082T>G (p.Tyr29028Asp)
c.87001T>G (p.Tyr29001Asp)
c.68764T>G (p.Tyr22922Asp)
c.58618T>G (p.Tyr19540Asp)
2g.178544360A>GCA349456584TTN,TTN-AS1c.88165T>C (p.Tyr29389His)
c.69250T>C (p.Tyr23084His)
c.69049T>C (p.Tyr23017His)
c.68674T>C (p.Tyr22892His)
c.95869T>C (p.Tyr31957His)
c.90946T>C (p.Tyr30316His)
n.446+20724A>G
n.2043+1999A>G
c.94966T>C (p.Tyr31656His)
c.68860T>C (p.Tyr22954His)
c.68719T>C (p.Tyr22907His)
c.94762T>C (p.Tyr31588His)
c.90160T>C (p.Tyr30054His)
c.90157T>C (p.Tyr30053His)
c.87199T>C (p.Tyr29067His)
c.68815T>C (p.Tyr22939His)
c.90310T>C (p.Tyr30104His)
c.90307T>C (p.Tyr30103His)
c.89740T>C (p.Tyr29914His)
c.87082T>C (p.Tyr29028His)
c.87001T>C (p.Tyr29001His)
c.68764T>C (p.Tyr22922His)
c.58618T>C (p.Tyr19540His)
 dbSNP gnomAD v2 gnomAD v4
2g.178544360A>TCA349456573TTN,TTN-AS1c.88165T>A (p.Tyr29389Asn)
c.69250T>A (p.Tyr23084Asn)
c.69049T>A (p.Tyr23017Asn)
c.68674T>A (p.Tyr22892Asn)
c.95869T>A (p.Tyr31957Asn)
c.90946T>A (p.Tyr30316Asn)
n.446+20724A>T
n.2043+1999A>T
c.94966T>A (p.Tyr31656Asn)
c.68860T>A (p.Tyr22954Asn)
c.68719T>A (p.Tyr22907Asn)
c.94762T>A (p.Tyr31588Asn)
c.90160T>A (p.Tyr30054Asn)
c.90157T>A (p.Tyr30053Asn)
c.87199T>A (p.Tyr29067Asn)
c.68815T>A (p.Tyr22939Asn)
c.90310T>A (p.Tyr30104Asn)
c.90307T>A (p.Tyr30103Asn)
c.89740T>A (p.Tyr29914Asn)
c.87082T>A (p.Tyr29028Asn)
c.87001T>A (p.Tyr29001Asn)
c.68764T>A (p.Tyr22922Asn)
c.58618T>A (p.Tyr19540Asn)
2g.178544361C>ACA349456587TTN,TTN-AS1c.88164G>T (p.Trp29388Cys)
c.69249G>T (p.Trp23083Cys)
c.69048G>T (p.Trp23016Cys)
c.68673G>T (p.Trp22891Cys)
c.95868G>T (p.Trp31956Cys)
c.90945G>T (p.Trp30315Cys)
n.446+20725C>A
n.2043+2000C>A
c.94965G>T (p.Trp31655Cys)
c.68859G>T (p.Trp22953Cys)
c.68718G>T (p.Trp22906Cys)
c.94761G>T (p.Trp31587Cys)
c.90159G>T (p.Trp30053Cys)
c.90156G>T (p.Trp30052Cys)
c.87198G>T (p.Trp29066Cys)
c.68814G>T (p.Trp22938Cys)
c.90309G>T (p.Trp30103Cys)
c.90306G>T (p.Trp30102Cys)
c.89739G>T (p.Trp29913Cys)
c.87081G>T (p.Trp29027Cys)
c.87000G>T (p.Trp29000Cys)
c.68763G>T (p.Trp22921Cys)
c.58617G>T (p.Trp19539Cys)
2g.178544361C>GCA349456606TTN,TTN-AS1c.88164G>C (p.Trp29388Cys)
c.69249G>C (p.Trp23083Cys)
c.69048G>C (p.Trp23016Cys)
c.68673G>C (p.Trp22891Cys)
c.95868G>C (p.Trp31956Cys)
c.90945G>C (p.Trp30315Cys)
n.446+20725C>G
n.2043+2000C>G
c.94965G>C (p.Trp31655Cys)
c.68859G>C (p.Trp22953Cys)
c.68718G>C (p.Trp22906Cys)
c.94761G>C (p.Trp31587Cys)
c.90159G>C (p.Trp30053Cys)
c.90156G>C (p.Trp30052Cys)
c.87198G>C (p.Trp29066Cys)
c.68814G>C (p.Trp22938Cys)
c.90309G>C (p.Trp30103Cys)
c.90306G>C (p.Trp30102Cys)
c.89739G>C (p.Trp29913Cys)
c.87081G>C (p.Trp29027Cys)
c.87000G>C (p.Trp29000Cys)
c.68763G>C (p.Trp22921Cys)
c.58617G>C (p.Trp19539Cys)
2g.178544361C>TCA349456608TTN,TTN-AS1c.88164G>A (p.Trp29388Ter)
c.69249G>A (p.Trp23083Ter)
c.69048G>A (p.Trp23016Ter)
c.68673G>A (p.Trp22891Ter)
c.95868G>A (p.Trp31956Ter)
c.90945G>A (p.Trp30315Ter)
n.446+20725C>T
n.2043+2000C>T
c.94965G>A (p.Trp31655Ter)
c.68859G>A (p.Trp22953Ter)
c.68718G>A (p.Trp22906Ter)
c.94761G>A (p.Trp31587Ter)
c.90159G>A (p.Trp30053Ter)
c.90156G>A (p.Trp30052Ter)
c.87198G>A (p.Trp29066Ter)
c.68814G>A (p.Trp22938Ter)
c.90309G>A (p.Trp30103Ter)
c.90306G>A (p.Trp30102Ter)
c.89739G>A (p.Trp29913Ter)
c.87081G>A (p.Trp29027Ter)
c.87000G>A (p.Trp29000Ter)
c.68763G>A (p.Trp22921Ter)
c.58617G>A (p.Trp19539Ter)
2g.178544362C>ACA349456611TTN,TTN-AS1c.88163G>T (p.Trp29388Leu)
c.69248G>T (p.Trp23083Leu)
c.69047G>T (p.Trp23016Leu)
c.68672G>T (p.Trp22891Leu)
c.95867G>T (p.Trp31956Leu)
c.90944G>T (p.Trp30315Leu)
n.446+20726C>A
n.2043+2001C>A
c.94964G>T (p.Trp31655Leu)
c.68858G>T (p.Trp22953Leu)
c.68717G>T (p.Trp22906Leu)
c.94760G>T (p.Trp31587Leu)
c.90158G>T (p.Trp30053Leu)
c.90155G>T (p.Trp30052Leu)
c.87197G>T (p.Trp29066Leu)
c.68813G>T (p.Trp22938Leu)
c.90308G>T (p.Trp30103Leu)
c.90305G>T (p.Trp30102Leu)
c.89738G>T (p.Trp29913Leu)
c.87080G>T (p.Trp29027Leu)
c.86999G>T (p.Trp29000Leu)
c.68762G>T (p.Trp22921Leu)
c.58616G>T (p.Trp19539Leu)
2g.178544362C>GCA349456613TTN,TTN-AS1c.88163G>C (p.Trp29388Ser)
c.69248G>C (p.Trp23083Ser)
c.69047G>C (p.Trp23016Ser)
c.68672G>C (p.Trp22891Ser)
c.95867G>C (p.Trp31956Ser)
c.90944G>C (p.Trp30315Ser)
n.446+20726C>G
n.2043+2001C>G
c.94964G>C (p.Trp31655Ser)
c.68858G>C (p.Trp22953Ser)
c.68717G>C (p.Trp22906Ser)
c.94760G>C (p.Trp31587Ser)
c.90158G>C (p.Trp30053Ser)
c.90155G>C (p.Trp30052Ser)
c.87197G>C (p.Trp29066Ser)
c.68813G>C (p.Trp22938Ser)
c.90308G>C (p.Trp30103Ser)
c.90305G>C (p.Trp30102Ser)
c.89738G>C (p.Trp29913Ser)
c.87080G>C (p.Trp29027Ser)
c.86999G>C (p.Trp29000Ser)
c.68762G>C (p.Trp22921Ser)
c.58616G>C (p.Trp19539Ser)
 gnomAD v4
2g.178544362C>TCA349456619TTN,TTN-AS1c.88163G>A (p.Trp29388Ter)
c.69248G>A (p.Trp23083Ter)
c.69047G>A (p.Trp23016Ter)
c.68672G>A (p.Trp22891Ter)
c.95867G>A (p.Trp31956Ter)
c.90944G>A (p.Trp30315Ter)
n.446+20726C>T
n.2043+2001C>T
c.94964G>A (p.Trp31655Ter)
c.68858G>A (p.Trp22953Ter)
c.68717G>A (p.Trp22906Ter)
c.94760G>A (p.Trp31587Ter)
c.90158G>A (p.Trp30053Ter)
c.90155G>A (p.Trp30052Ter)
c.87197G>A (p.Trp29066Ter)
c.68813G>A (p.Trp22938Ter)
c.90308G>A (p.Trp30103Ter)
c.90305G>A (p.Trp30102Ter)
c.89738G>A (p.Trp29913Ter)
c.87080G>A (p.Trp29027Ter)
c.86999G>A (p.Trp29000Ter)
c.68762G>A (p.Trp22921Ter)
c.58616G>A (p.Trp19539Ter)
2g.178544363A=CA1310521544TTN,TTN-AS1c.88162T= (p.Trp29388=)
c.69247T= (p.Trp23083=)
c.69046T= (p.Trp23016=)
c.68671T= (p.Trp22891=)
c.95866T= (p.Trp31956=)
c.90943T= (p.Trp30315=)
n.446+20727A=
n.2043+2002A=
c.94963T= (p.Trp31655=)
c.68857T= (p.Trp22953=)
c.68716T= (p.Trp22906=)
c.94759T= (p.Trp31587=)
c.90157T= (p.Trp30053=)
c.90154T= (p.Trp30052=)
c.87196T= (p.Trp29066=)
c.68812T= (p.Trp22938=)
c.90307T= (p.Trp30103=)
c.90304T= (p.Trp30102=)
c.89737T= (p.Trp29913=)
c.87079T= (p.Trp29027=)
c.86998T= (p.Trp29000=)
c.68761T= (p.Trp22921=)
c.58615T= (p.Trp19539=)
2g.178544363A>CCA349456622TTN,TTN-AS1c.88162T>G (p.Trp29388Gly)
c.69247T>G (p.Trp23083Gly)
c.69046T>G (p.Trp23016Gly)
c.68671T>G (p.Trp22891Gly)
c.95866T>G (p.Trp31956Gly)
c.90943T>G (p.Trp30315Gly)
n.446+20727A>C
n.2043+2002A>C
c.94963T>G (p.Trp31655Gly)
c.68857T>G (p.Trp22953Gly)
c.68716T>G (p.Trp22906Gly)
c.94759T>G (p.Trp31587Gly)
c.90157T>G (p.Trp30053Gly)
c.90154T>G (p.Trp30052Gly)
c.87196T>G (p.Trp29066Gly)
c.68812T>G (p.Trp22938Gly)
c.90307T>G (p.Trp30103Gly)
c.90304T>G (p.Trp30102Gly)
c.89737T>G (p.Trp29913Gly)
c.87079T>G (p.Trp29027Gly)
c.86998T>G (p.Trp29000Gly)
c.68761T>G (p.Trp22921Gly)
c.58615T>G (p.Trp19539Gly)
2g.178544363A>GCA349456624TTN,TTN-AS1c.88162T>C (p.Trp29388Arg)
c.69247T>C (p.Trp23083Arg)
c.69046T>C (p.Trp23016Arg)
c.68671T>C (p.Trp22891Arg)
c.95866T>C (p.Trp31956Arg)
c.90943T>C (p.Trp30315Arg)
n.446+20727A>G
n.2043+2002A>G
c.94963T>C (p.Trp31655Arg)
c.68857T>C (p.Trp22953Arg)
c.68716T>C (p.Trp22906Arg)
c.94759T>C (p.Trp31587Arg)
c.90157T>C (p.Trp30053Arg)
c.90154T>C (p.Trp30052Arg)
c.87196T>C (p.Trp29066Arg)
c.68812T>C (p.Trp22938Arg)
c.90307T>C (p.Trp30103Arg)
c.90304T>C (p.Trp30102Arg)
c.89737T>C (p.Trp29913Arg)
c.87079T>C (p.Trp29027Arg)
c.86998T>C (p.Trp29000Arg)
c.68761T>C (p.Trp22921Arg)
c.58615T>C (p.Trp19539Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.178544363A>TCA349456629TTN,TTN-AS1c.88162T>A (p.Trp29388Arg)
c.69247T>A (p.Trp23083Arg)
c.69046T>A (p.Trp23016Arg)
c.68671T>A (p.Trp22891Arg)
c.95866T>A (p.Trp31956Arg)
c.90943T>A (p.Trp30315Arg)
n.446+20727A>T
n.2043+2002A>T
c.94963T>A (p.Trp31655Arg)
c.68857T>A (p.Trp22953Arg)
c.68716T>A (p.Trp22906Arg)
c.94759T>A (p.Trp31587Arg)
c.90157T>A (p.Trp30053Arg)
c.90154T>A (p.Trp30052Arg)
c.87196T>A (p.Trp29066Arg)
c.68812T>A (p.Trp22938Arg)
c.90307T>A (p.Trp30103Arg)
c.90304T>A (p.Trp30102Arg)
c.89737T>A (p.Trp29913Arg)
c.87079T>A (p.Trp29027Arg)
c.86998T>A (p.Trp29000Arg)
c.68761T>A (p.Trp22921Arg)
c.58615T>A (p.Trp19539Arg)
2g.178544364C>ACA349456637TTN,TTN-AS1c.88161G>T (p.Gln29387His)
c.69246G>T (p.Gln23082His)
c.69045G>T (p.Gln23015His)
c.68670G>T (p.Gln22890His)
c.95865G>T (p.Gln31955His)
c.90942G>T (p.Gln30314His)
n.446+20728C>A
n.2043+2003C>A
c.94962G>T (p.Gln31654His)
c.68856G>T (p.Gln22952His)
c.68715G>T (p.Gln22905His)
c.94758G>T (p.Gln31586His)
c.90156G>T (p.Gln30052His)
c.90153G>T (p.Gln30051His)
c.87195G>T (p.Gln29065His)
c.68811G>T (p.Gln22937His)
c.90306G>T (p.Gln30102His)
c.90303G>T (p.Gln30101His)
c.89736G>T (p.Gln29912His)
c.87078G>T (p.Gln29026His)
c.86997G>T (p.Gln28999His)
c.68760G>T (p.Gln22920His)
c.58614G>T (p.Gln19538His)
2g.178544364C=CA1310521546TTN,TTN-AS1c.88161G= (p.Gln29387=)
c.69246G= (p.Gln23082=)
c.69045G= (p.Gln23015=)
c.68670G= (p.Gln22890=)
c.95865G= (p.Gln31955=)
c.90942G= (p.Gln30314=)
n.446+20728C=
n.2043+2003C=
c.94962G= (p.Gln31654=)
c.68856G= (p.Gln22952=)
c.68715G= (p.Gln22905=)
c.94758G= (p.Gln31586=)
c.90156G= (p.Gln30052=)
c.90153G= (p.Gln30051=)
c.87195G= (p.Gln29065=)
c.68811G= (p.Gln22937=)
c.90306G= (p.Gln30102=)
c.90303G= (p.Gln30101=)
c.89736G= (p.Gln29912=)
c.87078G= (p.Gln29026=)
c.86997G= (p.Gln28999=)
c.68760G= (p.Gln22920=)
c.58614G= (p.Gln19538=)
2g.178544364C>GCA349456639TTN,TTN-AS1c.88161G>C (p.Gln29387His)
c.69246G>C (p.Gln23082His)
c.69045G>C (p.Gln23015His)
c.68670G>C (p.Gln22890His)
c.95865G>C (p.Gln31955His)
c.90942G>C (p.Gln30314His)
n.446+20728C>G
n.2043+2003C>G
c.94962G>C (p.Gln31654His)
c.68856G>C (p.Gln22952His)
c.68715G>C (p.Gln22905His)
c.94758G>C (p.Gln31586His)
c.90156G>C (p.Gln30052His)
c.90153G>C (p.Gln30051His)
c.87195G>C (p.Gln29065His)
c.68811G>C (p.Gln22937His)
c.90306G>C (p.Gln30102His)
c.90303G>C (p.Gln30101His)
c.89736G>C (p.Gln29912His)
c.87078G>C (p.Gln29026His)
c.86997G>C (p.Gln28999His)
c.68760G>C (p.Gln22920His)
c.58614G>C (p.Gln19538His)
2g.178544364C>TCA1986862TTN,TTN-AS1c.88161G>A (p.Gln29387=)
c.69246G>A (p.Gln23082=)
c.69045G>A (p.Gln23015=)
c.68670G>A (p.Gln22890=)
c.95865G>A (p.Gln31955=)
c.90942G>A (p.Gln30314=)
n.446+20728C>T
n.2043+2003C>T
c.94962G>A (p.Gln31654=)
c.68856G>A (p.Gln22952=)
c.68715G>A (p.Gln22905=)
c.94758G>A (p.Gln31586=)
c.90156G>A (p.Gln30052=)
c.90153G>A (p.Gln30051=)
c.87195G>A (p.Gln29065=)
c.68811G>A (p.Gln22937=)
c.90306G>A (p.Gln30102=)
c.90303G>A (p.Gln30101=)
c.89736G>A (p.Gln29912=)
c.87078G>A (p.Gln29026=)
c.86997G>A (p.Gln28999=)
c.68760G>A (p.Gln22920=)
c.58614G>A (p.Gln19538=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
2g.178544365T>ACA185359TTN,TTN-AS1c.88160A>T (p.Gln29387Leu)
c.69245A>T (p.Gln23082Leu)
c.69044A>T (p.Gln23015Leu)
c.68669A>T (p.Gln22890Leu)
c.95864A>T (p.Gln31955Leu)
c.90941A>T (p.Gln30314Leu)
n.446+20729T>A
n.2043+2004T>A
c.94961A>T (p.Gln31654Leu)
c.68855A>T (p.Gln22952Leu)
c.68714A>T (p.Gln22905Leu)
c.94757A>T (p.Gln31586Leu)
c.90155A>T (p.Gln30052Leu)
c.90152A>T (p.Gln30051Leu)
c.87194A>T (p.Gln29065Leu)
c.68810A>T (p.Gln22937Leu)
c.90305A>T (p.Gln30102Leu)
c.90302A>T (p.Gln30101Leu)
c.89735A>T (p.Gln29912Leu)
c.87077A>T (p.Gln29026Leu)
c.86996A>T (p.Gln28999Leu)
c.68759A>T (p.Gln22920Leu)
c.58613A>T (p.Gln19538Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178544365T>CCA349456650TTN,TTN-AS1c.88160A>G (p.Gln29387Arg)
c.69245A>G (p.Gln23082Arg)
c.69044A>G (p.Gln23015Arg)
c.68669A>G (p.Gln22890Arg)
c.95864A>G (p.Gln31955Arg)
c.90941A>G (p.Gln30314Arg)
n.446+20729T>C
n.2043+2004T>C
c.94961A>G (p.Gln31654Arg)
c.68855A>G (p.Gln22952Arg)
c.68714A>G (p.Gln22905Arg)
c.94757A>G (p.Gln31586Arg)
c.90155A>G (p.Gln30052Arg)
c.90152A>G (p.Gln30051Arg)
c.87194A>G (p.Gln29065Arg)
c.68810A>G (p.Gln22937Arg)
c.90305A>G (p.Gln30102Arg)
c.90302A>G (p.Gln30101Arg)
c.89735A>G (p.Gln29912Arg)
c.87077A>G (p.Gln29026Arg)
c.86996A>G (p.Gln28999Arg)
c.68759A>G (p.Gln22920Arg)
c.58613A>G (p.Gln19538Arg)
2g.178544365T>GCA349456645TTN,TTN-AS1c.88160A>C (p.Gln29387Pro)
c.69245A>C (p.Gln23082Pro)
c.69044A>C (p.Gln23015Pro)
c.68669A>C (p.Gln22890Pro)
c.95864A>C (p.Gln31955Pro)
c.90941A>C (p.Gln30314Pro)
n.446+20729T>G
n.2043+2004T>G
c.94961A>C (p.Gln31654Pro)
c.68855A>C (p.Gln22952Pro)
c.68714A>C (p.Gln22905Pro)
c.94757A>C (p.Gln31586Pro)
c.90155A>C (p.Gln30052Pro)
c.90152A>C (p.Gln30051Pro)
c.87194A>C (p.Gln29065Pro)
c.68810A>C (p.Gln22937Pro)
c.90305A>C (p.Gln30102Pro)
c.90302A>C (p.Gln30101Pro)
c.89735A>C (p.Gln29912Pro)
c.87077A>C (p.Gln29026Pro)
c.86996A>C (p.Gln28999Pro)
c.68759A>C (p.Gln22920Pro)
c.58613A>C (p.Gln19538Pro)
2g.178544365T=CA1310521548TTN,TTN-AS1c.88160A= (p.Gln29387=)
c.69245A= (p.Gln23082=)
c.69044A= (p.Gln23015=)
c.68669A= (p.Gln22890=)
c.95864A= (p.Gln31955=)
c.90941A= (p.Gln30314=)
n.446+20729T=
n.2043+2004T=
c.94961A= (p.Gln31654=)
c.68855A= (p.Gln22952=)
c.68714A= (p.Gln22905=)
c.94757A= (p.Gln31586=)
c.90155A= (p.Gln30052=)
c.90152A= (p.Gln30051=)
c.87194A= (p.Gln29065=)
c.68810A= (p.Gln22937=)
c.90305A= (p.Gln30102=)
c.90302A= (p.Gln30101=)
c.89735A= (p.Gln29912=)
c.87077A= (p.Gln29026=)
c.86996A= (p.Gln28999=)
c.68759A= (p.Gln22920=)
c.58613A= (p.Gln19538=)
2g.178544366G>ACA349456669TTN,TTN-AS1c.88159C>T (p.Gln29387Ter)
c.69244C>T (p.Gln23082Ter)
c.69043C>T (p.Gln23015Ter)
c.68668C>T (p.Gln22890Ter)
c.95863C>T (p.Gln31955Ter)
c.90940C>T (p.Gln30314Ter)
n.446+20730G>A
n.2043+2005G>A
c.94960C>T (p.Gln31654Ter)
c.68854C>T (p.Gln22952Ter)
c.68713C>T (p.Gln22905Ter)
c.94756C>T (p.Gln31586Ter)
c.90154C>T (p.Gln30052Ter)
c.90151C>T (p.Gln30051Ter)
c.87193C>T (p.Gln29065Ter)
c.68809C>T (p.Gln22937Ter)
c.90304C>T (p.Gln30102Ter)
c.90301C>T (p.Gln30101Ter)
c.89734C>T (p.Gln29912Ter)
c.87076C>T (p.Gln29026Ter)
c.86995C>T (p.Gln28999Ter)
c.68758C>T (p.Gln22920Ter)
c.58612C>T (p.Gln19538Ter)
2g.178544366G>CCA349456673TTN,TTN-AS1c.88159C>G (p.Gln29387Glu)
c.69244C>G (p.Gln23082Glu)
c.69043C>G (p.Gln23015Glu)
c.68668C>G (p.Gln22890Glu)
c.95863C>G (p.Gln31955Glu)
c.90940C>G (p.Gln30314Glu)
n.446+20730G>C
n.2043+2005G>C
c.94960C>G (p.Gln31654Glu)
c.68854C>G (p.Gln22952Glu)
c.68713C>G (p.Gln22905Glu)
c.94756C>G (p.Gln31586Glu)
c.90154C>G (p.Gln30052Glu)
c.90151C>G (p.Gln30051Glu)
c.87193C>G (p.Gln29065Glu)
c.68809C>G (p.Gln22937Glu)
c.90304C>G (p.Gln30102Glu)
c.90301C>G (p.Gln30101Glu)
c.89734C>G (p.Gln29912Glu)
c.87076C>G (p.Gln29026Glu)
c.86995C>G (p.Gln28999Glu)
c.68758C>G (p.Gln22920Glu)
c.58612C>G (p.Gln19538Glu)
2g.178544366G>TCA349456676TTN,TTN-AS1c.88159C>A (p.Gln29387Lys)
c.69244C>A (p.Gln23082Lys)
c.69043C>A (p.Gln23015Lys)
c.68668C>A (p.Gln22890Lys)
c.95863C>A (p.Gln31955Lys)
c.90940C>A (p.Gln30314Lys)
n.446+20730G>T
n.2043+2005G>T
c.94960C>A (p.Gln31654Lys)
c.68854C>A (p.Gln22952Lys)
c.68713C>A (p.Gln22905Lys)
c.94756C>A (p.Gln31586Lys)
c.90154C>A (p.Gln30052Lys)
c.90151C>A (p.Gln30051Lys)
c.87193C>A (p.Gln29065Lys)
c.68809C>A (p.Gln22937Lys)
c.90304C>A (p.Gln30102Lys)
c.90301C>A (p.Gln30101Lys)
c.89734C>A (p.Gln29912Lys)
c.87076C>A (p.Gln29026Lys)
c.86995C>A (p.Gln28999Lys)
c.68758C>A (p.Gln22920Lys)
c.58612C>A (p.Gln19538Lys)
2g.178544367A=CA1310521550TTN,TTN-AS1c.88158T= (p.Asp29386=)
c.69243T= (p.Asp23081=)
c.69042T= (p.Asp23014=)
c.68667T= (p.Asp22889=)
c.95862T= (p.Asp31954=)
c.90939T= (p.Asp30313=)
n.446+20731A=
n.2043+2006A=
c.94959T= (p.Asp31653=)
c.68853T= (p.Asp22951=)
c.68712T= (p.Asp22904=)
c.94755T= (p.Asp31585=)
c.90153T= (p.Asp30051=)
c.90150T= (p.Asp30050=)
c.87192T= (p.Asp29064=)
c.68808T= (p.Asp22936=)
c.90303T= (p.Asp30101=)
c.90300T= (p.Asp30100=)
c.89733T= (p.Asp29911=)
c.87075T= (p.Asp29025=)
c.86994T= (p.Asp28998=)
c.68757T= (p.Asp22919=)
c.58611T= (p.Asp19537=)
2g.178544367A>CCA349456685TTN,TTN-AS1c.88158T>G (p.Asp29386Glu)
c.69243T>G (p.Asp23081Glu)
c.69042T>G (p.Asp23014Glu)
c.68667T>G (p.Asp22889Glu)
c.95862T>G (p.Asp31954Glu)
c.90939T>G (p.Asp30313Glu)
n.446+20731A>C
n.2043+2006A>C
c.94959T>G (p.Asp31653Glu)
c.68853T>G (p.Asp22951Glu)
c.68712T>G (p.Asp22904Glu)
c.94755T>G (p.Asp31585Glu)
c.90153T>G (p.Asp30051Glu)
c.90150T>G (p.Asp30050Glu)
c.87192T>G (p.Asp29064Glu)
c.68808T>G (p.Asp22936Glu)
c.90303T>G (p.Asp30101Glu)
c.90300T>G (p.Asp30100Glu)
c.89733T>G (p.Asp29911Glu)
c.87075T>G (p.Asp29025Glu)
c.86994T>G (p.Asp28998Glu)
c.68757T>G (p.Asp22919Glu)
c.58611T>G (p.Asp19537Glu)
2g.178544367A>GCA430241836TTN,TTN-AS1c.88158T>C (p.Asp29386=)
c.69243T>C (p.Asp23081=)
c.69042T>C (p.Asp23014=)
c.68667T>C (p.Asp22889=)
c.95862T>C (p.Asp31954=)
c.90939T>C (p.Asp30313=)
n.446+20731A>G
n.2043+2006A>G
c.94959T>C (p.Asp31653=)
c.68853T>C (p.Asp22951=)
c.68712T>C (p.Asp22904=)
c.94755T>C (p.Asp31585=)
c.90153T>C (p.Asp30051=)
c.90150T>C (p.Asp30050=)
c.87192T>C (p.Asp29064=)
c.68808T>C (p.Asp22936=)
c.90303T>C (p.Asp30101=)
c.90300T>C (p.Asp30100=)
c.89733T>C (p.Asp29911=)
c.87075T>C (p.Asp29025=)
c.86994T>C (p.Asp28998=)
c.68757T>C (p.Asp22919=)
c.58611T>C (p.Asp19537=)
2g.178544367A>TCA1986863TTN,TTN-AS1c.88158T>A (p.Asp29386Glu)
c.69243T>A (p.Asp23081Glu)
c.69042T>A (p.Asp23014Glu)
c.68667T>A (p.Asp22889Glu)
c.95862T>A (p.Asp31954Glu)
c.90939T>A (p.Asp30313Glu)
n.446+20731A>T
n.2043+2006A>T
c.94959T>A (p.Asp31653Glu)
c.68853T>A (p.Asp22951Glu)
c.68712T>A (p.Asp22904Glu)
c.94755T>A (p.Asp31585Glu)
c.90153T>A (p.Asp30051Glu)
c.90150T>A (p.Asp30050Glu)
c.87192T>A (p.Asp29064Glu)
c.68808T>A (p.Asp22936Glu)
c.90303T>A (p.Asp30101Glu)
c.90300T>A (p.Asp30100Glu)
c.89733T>A (p.Asp29911Glu)
c.87075T>A (p.Asp29025Glu)
c.86994T>A (p.Asp28998Glu)
c.68757T>A (p.Asp22919Glu)
c.58611T>A (p.Asp19537Glu)
 dbSNP ExAC gnomAD v2
2g.178544368T>ACA349456708TTN,TTN-AS1c.88157A>T (p.Asp29386Val)
c.69242A>T (p.Asp23081Val)
c.69041A>T (p.Asp23014Val)
c.68666A>T (p.Asp22889Val)
c.95861A>T (p.Asp31954Val)
c.90938A>T (p.Asp30313Val)
n.446+20732T>A
n.2043+2007T>A
c.94958A>T (p.Asp31653Val)
c.68852A>T (p.Asp22951Val)
c.68711A>T (p.Asp22904Val)
c.94754A>T (p.Asp31585Val)
c.90152A>T (p.Asp30051Val)
c.90149A>T (p.Asp30050Val)
c.87191A>T (p.Asp29064Val)
c.68807A>T (p.Asp22936Val)
c.90302A>T (p.Asp30101Val)
c.90299A>T (p.Asp30100Val)
c.89732A>T (p.Asp29911Val)
c.87074A>T (p.Asp29025Val)
c.86993A>T (p.Asp28998Val)
c.68756A>T (p.Asp22919Val)
c.58610A>T (p.Asp19537Val)
2g.178544368T>CCA349456702TTN,TTN-AS1c.88157A>G (p.Asp29386Gly)
c.69242A>G (p.Asp23081Gly)
c.69041A>G (p.Asp23014Gly)
c.68666A>G (p.Asp22889Gly)
c.95861A>G (p.Asp31954Gly)
c.90938A>G (p.Asp30313Gly)
n.446+20732T>C
n.2043+2007T>C
c.94958A>G (p.Asp31653Gly)
c.68852A>G (p.Asp22951Gly)
c.68711A>G (p.Asp22904Gly)
c.94754A>G (p.Asp31585Gly)
c.90152A>G (p.Asp30051Gly)
c.90149A>G (p.Asp30050Gly)
c.87191A>G (p.Asp29064Gly)
c.68807A>G (p.Asp22936Gly)
c.90302A>G (p.Asp30101Gly)
c.90299A>G (p.Asp30100Gly)
c.89732A>G (p.Asp29911Gly)
c.87074A>G (p.Asp29025Gly)
c.86993A>G (p.Asp28998Gly)
c.68756A>G (p.Asp22919Gly)
c.58610A>G (p.Asp19537Gly)
2g.178544368T>GCA349456689TTN,TTN-AS1c.88157A>C (p.Asp29386Ala)
c.69242A>C (p.Asp23081Ala)
c.69041A>C (p.Asp23014Ala)
c.68666A>C (p.Asp22889Ala)
c.95861A>C (p.Asp31954Ala)
c.90938A>C (p.Asp30313Ala)
n.446+20732T>G
n.2043+2007T>G
c.94958A>C (p.Asp31653Ala)
c.68852A>C (p.Asp22951Ala)
c.68711A>C (p.Asp22904Ala)
c.94754A>C (p.Asp31585Ala)
c.90152A>C (p.Asp30051Ala)
c.90149A>C (p.Asp30050Ala)
c.87191A>C (p.Asp29064Ala)
c.68807A>C (p.Asp22936Ala)
c.90302A>C (p.Asp30101Ala)
c.90299A>C (p.Asp30100Ala)
c.89732A>C (p.Asp29911Ala)
c.87074A>C (p.Asp29025Ala)
c.86993A>C (p.Asp28998Ala)
c.68756A>C (p.Asp22919Ala)
c.58610A>C (p.Asp19537Ala)
2g.178544369C>ACA349456713TTN,TTN-AS1c.88156G>T (p.Asp29386Tyr)
c.69241G>T (p.Asp23081Tyr)
c.69040G>T (p.Asp23014Tyr)
c.68665G>T (p.Asp22889Tyr)
c.95860G>T (p.Asp31954Tyr)
c.90937G>T (p.Asp30313Tyr)
n.446+20733C>A
n.2043+2008C>A
c.94957G>T (p.Asp31653Tyr)
c.68851G>T (p.Asp22951Tyr)
c.68710G>T (p.Asp22904Tyr)
c.94753G>T (p.Asp31585Tyr)
c.90151G>T (p.Asp30051Tyr)
c.90148G>T (p.Asp30050Tyr)
c.87190G>T (p.Asp29064Tyr)
c.68806G>T (p.Asp22936Tyr)
c.90301G>T (p.Asp30101Tyr)
c.90298G>T (p.Asp30100Tyr)
c.89731G>T (p.Asp29911Tyr)
c.87073G>T (p.Asp29025Tyr)
c.86992G>T (p.Asp28998Tyr)
c.68755G>T (p.Asp22919Tyr)
c.58609G>T (p.Asp19537Tyr)
2g.178544369C>GCA349456717TTN,TTN-AS1c.88156G>C (p.Asp29386His)
c.69241G>C (p.Asp23081His)
c.69040G>C (p.Asp23014His)
c.68665G>C (p.Asp22889His)
c.95860G>C (p.Asp31954His)
c.90937G>C (p.Asp30313His)
n.446+20733C>G
n.2043+2008C>G
c.94957G>C (p.Asp31653His)
c.68851G>C (p.Asp22951His)
c.68710G>C (p.Asp22904His)
c.94753G>C (p.Asp31585His)
c.90151G>C (p.Asp30051His)
c.90148G>C (p.Asp30050His)
c.87190G>C (p.Asp29064His)
c.68806G>C (p.Asp22936His)
c.90301G>C (p.Asp30101His)
c.90298G>C (p.Asp30100His)
c.89731G>C (p.Asp29911His)
c.87073G>C (p.Asp29025His)
c.86992G>C (p.Asp28998His)
c.68755G>C (p.Asp22919His)
c.58609G>C (p.Asp19537His)
2g.178544369C>TCA349456719TTN,TTN-AS1c.88156G>A (p.Asp29386Asn)
c.69241G>A (p.Asp23081Asn)
c.69040G>A (p.Asp23014Asn)
c.68665G>A (p.Asp22889Asn)
c.95860G>A (p.Asp31954Asn)
c.90937G>A (p.Asp30313Asn)
n.446+20733C>T
n.2043+2008C>T
c.94957G>A (p.Asp31653Asn)
c.68851G>A (p.Asp22951Asn)
c.68710G>A (p.Asp22904Asn)
c.94753G>A (p.Asp31585Asn)
c.90151G>A (p.Asp30051Asn)
c.90148G>A (p.Asp30050Asn)
c.87190G>A (p.Asp29064Asn)
c.68806G>A (p.Asp22936Asn)
c.90301G>A (p.Asp30101Asn)
c.90298G>A (p.Asp30100Asn)
c.89731G>A (p.Asp29911Asn)
c.87073G>A (p.Asp29025Asn)
c.86992G>A (p.Asp28998Asn)
c.68755G>A (p.Asp22919Asn)
c.58609G>A (p.Asp19537Asn)
2g.178544370A=CA1310521552TTN,TTN-AS1c.88155T= (p.Thr29385=)
c.69240T= (p.Thr23080=)
c.69039T= (p.Thr23013=)
c.68664T= (p.Thr22888=)
c.95859T= (p.Thr31953=)
c.90936T= (p.Thr30312=)
n.446+20734A=
n.2043+2009A=
c.94956T= (p.Thr31652=)
c.68850T= (p.Thr22950=)
c.68709T= (p.Thr22903=)
c.94752T= (p.Thr31584=)
c.90150T= (p.Thr30050=)
c.90147T= (p.Thr30049=)
c.87189T= (p.Thr29063=)
c.68805T= (p.Thr22935=)
c.90300T= (p.Thr30100=)
c.90297T= (p.Thr30099=)
c.89730T= (p.Thr29910=)
c.87072T= (p.Thr29024=)
c.86991T= (p.Thr28997=)
c.68754T= (p.Thr22918=)
c.58608T= (p.Thr19536=)
2g.178544370A>CCA430241840TTN,TTN-AS1c.88155T>G (p.Thr29385=)
c.69240T>G (p.Thr23080=)
c.69039T>G (p.Thr23013=)
c.68664T>G (p.Thr22888=)
c.95859T>G (p.Thr31953=)
c.90936T>G (p.Thr30312=)
n.446+20734A>C
n.2043+2009A>C
c.94956T>G (p.Thr31652=)
c.68850T>G (p.Thr22950=)
c.68709T>G (p.Thr22903=)
c.94752T>G (p.Thr31584=)
c.90150T>G (p.Thr30050=)
c.90147T>G (p.Thr30049=)
c.87189T>G (p.Thr29063=)
c.68805T>G (p.Thr22935=)
c.90300T>G (p.Thr30100=)
c.90297T>G (p.Thr30099=)
c.89730T>G (p.Thr29910=)
c.87072T>G (p.Thr29024=)
c.86991T>G (p.Thr28997=)
c.68754T>G (p.Thr22918=)
c.58608T>G (p.Thr19536=)
2g.178544370A>GCA430241841TTN,TTN-AS1c.88155T>C (p.Thr29385=)
c.69240T>C (p.Thr23080=)
c.69039T>C (p.Thr23013=)
c.68664T>C (p.Thr22888=)
c.95859T>C (p.Thr31953=)
c.90936T>C (p.Thr30312=)
n.446+20734A>G
n.2043+2009A>G
c.94956T>C (p.Thr31652=)
c.68850T>C (p.Thr22950=)
c.68709T>C (p.Thr22903=)
c.94752T>C (p.Thr31584=)
c.90150T>C (p.Thr30050=)
c.90147T>C (p.Thr30049=)
c.87189T>C (p.Thr29063=)
c.68805T>C (p.Thr22935=)
c.90300T>C (p.Thr30100=)
c.90297T>C (p.Thr30099=)
c.89730T>C (p.Thr29910=)
c.87072T>C (p.Thr29024=)
c.86991T>C (p.Thr28997=)
c.68754T>C (p.Thr22918=)
c.58608T>C (p.Thr19536=)
 dbSNP
2g.178544370A>TCA430241842TTN,TTN-AS1c.88155T>A (p.Thr29385=)
c.69240T>A (p.Thr23080=)
c.69039T>A (p.Thr23013=)
c.68664T>A (p.Thr22888=)
c.95859T>A (p.Thr31953=)
c.90936T>A (p.Thr30312=)
n.446+20734A>T
n.2043+2009A>T
c.94956T>A (p.Thr31652=)
c.68850T>A (p.Thr22950=)
c.68709T>A (p.Thr22903=)
c.94752T>A (p.Thr31584=)
c.90150T>A (p.Thr30050=)
c.90147T>A (p.Thr30049=)
c.87189T>A (p.Thr29063=)
c.68805T>A (p.Thr22935=)
c.90300T>A (p.Thr30100=)
c.90297T>A (p.Thr30099=)
c.89730T>A (p.Thr29910=)
c.87072T>A (p.Thr29024=)
c.86991T>A (p.Thr28997=)
c.68754T>A (p.Thr22918=)
c.58608T>A (p.Thr19536=)
2g.178544371G>ACA349456723TTN,TTN-AS1c.88154C>T (p.Thr29385Ile)
c.69239C>T (p.Thr23080Ile)
c.69038C>T (p.Thr23013Ile)
c.68663C>T (p.Thr22888Ile)
c.95858C>T (p.Thr31953Ile)
c.90935C>T (p.Thr30312Ile)
n.446+20735G>A
n.2043+2010G>A
c.94955C>T (p.Thr31652Ile)
c.68849C>T (p.Thr22950Ile)
c.68708C>T (p.Thr22903Ile)
c.94751C>T (p.Thr31584Ile)
c.90149C>T (p.Thr30050Ile)
c.90146C>T (p.Thr30049Ile)
c.87188C>T (p.Thr29063Ile)
c.68804C>T (p.Thr22935Ile)
c.90299C>T (p.Thr30100Ile)
c.90296C>T (p.Thr30099Ile)
c.89729C>T (p.Thr29910Ile)
c.87071C>T (p.Thr29024Ile)
c.86990C>T (p.Thr28997Ile)
c.68753C>T (p.Thr22918Ile)
c.58607C>T (p.Thr19536Ile)
2g.178544371G>CCA349456726TTN,TTN-AS1c.88154C>G (p.Thr29385Ser)
c.69239C>G (p.Thr23080Ser)
c.69038C>G (p.Thr23013Ser)
c.68663C>G (p.Thr22888Ser)
c.95858C>G (p.Thr31953Ser)
c.90935C>G (p.Thr30312Ser)
n.446+20735G>C
n.2043+2010G>C
c.94955C>G (p.Thr31652Ser)
c.68849C>G (p.Thr22950Ser)
c.68708C>G (p.Thr22903Ser)
c.94751C>G (p.Thr31584Ser)
c.90149C>G (p.Thr30050Ser)
c.90146C>G (p.Thr30049Ser)
c.87188C>G (p.Thr29063Ser)
c.68804C>G (p.Thr22935Ser)
c.90299C>G (p.Thr30100Ser)
c.90296C>G (p.Thr30099Ser)
c.89729C>G (p.Thr29910Ser)
c.87071C>G (p.Thr29024Ser)
c.86990C>G (p.Thr28997Ser)
c.68753C>G (p.Thr22918Ser)
c.58607C>G (p.Thr19536Ser)
2g.178544371G>TCA349456730TTN,TTN-AS1c.88154C>A (p.Thr29385Asn)
c.69239C>A (p.Thr23080Asn)
c.69038C>A (p.Thr23013Asn)
c.68663C>A (p.Thr22888Asn)
c.95858C>A (p.Thr31953Asn)
c.90935C>A (p.Thr30312Asn)
n.446+20735G>T
n.2043+2010G>T
c.94955C>A (p.Thr31652Asn)
c.68849C>A (p.Thr22950Asn)
c.68708C>A (p.Thr22903Asn)
c.94751C>A (p.Thr31584Asn)
c.90149C>A (p.Thr30050Asn)
c.90146C>A (p.Thr30049Asn)
c.87188C>A (p.Thr29063Asn)
c.68804C>A (p.Thr22935Asn)
c.90299C>A (p.Thr30100Asn)
c.90296C>A (p.Thr30099Asn)
c.89729C>A (p.Thr29910Asn)
c.87071C>A (p.Thr29024Asn)
c.86990C>A (p.Thr28997Asn)
c.68753C>A (p.Thr22918Asn)
c.58607C>A (p.Thr19536Asn)
2g.178544372T>ACA349456739TTN,TTN-AS1c.88153A>T (p.Thr29385Ser)
c.69238A>T (p.Thr23080Ser)
c.69037A>T (p.Thr23013Ser)
c.68662A>T (p.Thr22888Ser)
c.95857A>T (p.Thr31953Ser)
c.90934A>T (p.Thr30312Ser)
n.446+20736T>A
n.2043+2011T>A
c.94954A>T (p.Thr31652Ser)
c.68848A>T (p.Thr22950Ser)
c.68707A>T (p.Thr22903Ser)
c.94750A>T (p.Thr31584Ser)
c.90148A>T (p.Thr30050Ser)
c.90145A>T (p.Thr30049Ser)
c.87187A>T (p.Thr29063Ser)
c.68803A>T (p.Thr22935Ser)
c.90298A>T (p.Thr30100Ser)
c.90295A>T (p.Thr30099Ser)
c.89728A>T (p.Thr29910Ser)
c.87070A>T (p.Thr29024Ser)
c.86989A>T (p.Thr28997Ser)
c.68752A>T (p.Thr22918Ser)
c.58606A>T (p.Thr19536Ser)
 gnomAD v4
2g.178544372T>CCA349456735TTN,TTN-AS1c.88153A>G (p.Thr29385Ala)
c.69238A>G (p.Thr23080Ala)
c.69037A>G (p.Thr23013Ala)
c.68662A>G (p.Thr22888Ala)
c.95857A>G (p.Thr31953Ala)
c.90934A>G (p.Thr30312Ala)
n.446+20736T>C
n.2043+2011T>C
c.94954A>G (p.Thr31652Ala)
c.68848A>G (p.Thr22950Ala)
c.68707A>G (p.Thr22903Ala)
c.94750A>G (p.Thr31584Ala)
c.90148A>G (p.Thr30050Ala)
c.90145A>G (p.Thr30049Ala)
c.87187A>G (p.Thr29063Ala)
c.68803A>G (p.Thr22935Ala)
c.90298A>G (p.Thr30100Ala)
c.90295A>G (p.Thr30099Ala)
c.89728A>G (p.Thr29910Ala)
c.87070A>G (p.Thr29024Ala)
c.86989A>G (p.Thr28997Ala)
c.68752A>G (p.Thr22918Ala)
c.58606A>G (p.Thr19536Ala)
2g.178544372T>GCA349456737TTN,TTN-AS1c.88153A>C (p.Thr29385Pro)
c.69238A>C (p.Thr23080Pro)
c.69037A>C (p.Thr23013Pro)
c.68662A>C (p.Thr22888Pro)
c.95857A>C (p.Thr31953Pro)
c.90934A>C (p.Thr30312Pro)
n.446+20736T>G
n.2043+2011T>G
c.94954A>C (p.Thr31652Pro)
c.68848A>C (p.Thr22950Pro)
c.68707A>C (p.Thr22903Pro)
c.94750A>C (p.Thr31584Pro)
c.90148A>C (p.Thr30050Pro)
c.90145A>C (p.Thr30049Pro)
c.87187A>C (p.Thr29063Pro)
c.68803A>C (p.Thr22935Pro)
c.90298A>C (p.Thr30100Pro)
c.90295A>C (p.Thr30099Pro)
c.89728A>C (p.Thr29910Pro)
c.87070A>C (p.Thr29024Pro)
c.86989A>C (p.Thr28997Pro)
c.68752A>C (p.Thr22918Pro)
c.58606A>C (p.Thr19536Pro)
2g.178544373G>ACA430241849TTN,TTN-AS1c.88152C>T (p.Asp29384=)
c.69237C>T (p.Asp23079=)
c.69036C>T (p.Asp23012=)
c.68661C>T (p.Asp22887=)
c.95856C>T (p.Asp31952=)
c.90933C>T (p.Asp30311=)
n.446+20737G>A
n.2043+2012G>A
c.94953C>T (p.Asp31651=)
c.68847C>T (p.Asp22949=)
c.68706C>T (p.Asp22902=)
c.94749C>T (p.Asp31583=)
c.90147C>T (p.Asp30049=)
c.90144C>T (p.Asp30048=)
c.87186C>T (p.Asp29062=)
c.68802C>T (p.Asp22934=)
c.90297C>T (p.Asp30099=)
c.90294C>T (p.Asp30098=)
c.89727C>T (p.Asp29909=)
c.87069C>T (p.Asp29023=)
c.86988C>T (p.Asp28996=)
c.68751C>T (p.Asp22917=)
c.58605C>T (p.Asp19535=)
2g.178544373G>CCA349456742TTN,TTN-AS1c.88152C>G (p.Asp29384Glu)
c.69237C>G (p.Asp23079Glu)
c.69036C>G (p.Asp23012Glu)
c.68661C>G (p.Asp22887Glu)
c.95856C>G (p.Asp31952Glu)
c.90933C>G (p.Asp30311Glu)
n.446+20737G>C
n.2043+2012G>C
c.94953C>G (p.Asp31651Glu)
c.68847C>G (p.Asp22949Glu)
c.68706C>G (p.Asp22902Glu)
c.94749C>G (p.Asp31583Glu)
c.90147C>G (p.Asp30049Glu)
c.90144C>G (p.Asp30048Glu)
c.87186C>G (p.Asp29062Glu)
c.68802C>G (p.Asp22934Glu)
c.90297C>G (p.Asp30099Glu)
c.90294C>G (p.Asp30098Glu)
c.89727C>G (p.Asp29909Glu)
c.87069C>G (p.Asp29023Glu)
c.86988C>G (p.Asp28996Glu)
c.68751C>G (p.Asp22917Glu)
c.58605C>G (p.Asp19535Glu)

Number of alleles fetched