Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178532177_178532181delCA2577170193TTN,TTN-AS1c.96731_96735del (p.Ile32244ArgfsTer3)
c.77816_77820del (p.Ile25939ArgfsTer3)
c.77615_77619del (p.Ile25872ArgfsTer3)
c.77240_77244del (p.Ile25747ArgfsTer3)
c.104435_104439del (p.Ile34812ArgfsTer3)
c.99512_99516del (p.Ile33171ArgfsTer3)
n.446+8541_446+8545del
n.220-3555_220-3551del
c.103532_103536del (p.Ile34511ArgfsTer3)
c.77426_77430del (p.Ile25809ArgfsTer3)
c.77285_77289del (p.Ile25762ArgfsTer3)
c.103328_103332del (p.Ile34443ArgfsTer3)
c.98726_98730del (p.Ile32909ArgfsTer3)
c.98723_98727del (p.Ile32908ArgfsTer3)
c.95765_95769del (p.Ile31922ArgfsTer3)
c.77381_77385del (p.Ile25794ArgfsTer3)
c.98876_98880del (p.Ile32959ArgfsTer3)
c.98873_98877del (p.Ile32958ArgfsTer3)
c.98306_98310del (p.Ile32769ArgfsTer3)
c.95648_95652del (p.Ile31883ArgfsTer3)
c.95567_95571del (p.Ile31856ArgfsTer3)
c.77330_77334del (p.Ile25777ArgfsTer3)
c.67184_67188del (p.Ile22395ArgfsTer3)
2g.178532177G>ACA349411731TTN,TTN-AS1c.96734C>T (p.Thr32245Ile)
c.77819C>T (p.Thr25940Ile)
c.77618C>T (p.Thr25873Ile)
c.77243C>T (p.Thr25748Ile)
c.104438C>T (p.Thr34813Ile)
c.99515C>T (p.Thr33172Ile)
n.446+8541G>A
n.220-3555G>A
c.103535C>T (p.Thr34512Ile)
c.77429C>T (p.Thr25810Ile)
c.77288C>T (p.Thr25763Ile)
c.103331C>T (p.Thr34444Ile)
c.98729C>T (p.Thr32910Ile)
c.98726C>T (p.Thr32909Ile)
c.95768C>T (p.Thr31923Ile)
c.77384C>T (p.Thr25795Ile)
c.98879C>T (p.Thr32960Ile)
c.98876C>T (p.Thr32959Ile)
c.98309C>T (p.Thr32770Ile)
c.95651C>T (p.Thr31884Ile)
c.95570C>T (p.Thr31857Ile)
c.77333C>T (p.Thr25778Ile)
c.67187C>T (p.Thr22396Ile)
2g.178532177G>CCA349411732TTN,TTN-AS1c.96734C>G (p.Thr32245Arg)
c.77819C>G (p.Thr25940Arg)
c.77618C>G (p.Thr25873Arg)
c.77243C>G (p.Thr25748Arg)
c.104438C>G (p.Thr34813Arg)
c.99515C>G (p.Thr33172Arg)
n.446+8541G>C
n.220-3555G>C
c.103535C>G (p.Thr34512Arg)
c.77429C>G (p.Thr25810Arg)
c.77288C>G (p.Thr25763Arg)
c.103331C>G (p.Thr34444Arg)
c.98729C>G (p.Thr32910Arg)
c.98726C>G (p.Thr32909Arg)
c.95768C>G (p.Thr31923Arg)
c.77384C>G (p.Thr25795Arg)
c.98879C>G (p.Thr32960Arg)
c.98876C>G (p.Thr32959Arg)
c.98309C>G (p.Thr32770Arg)
c.95651C>G (p.Thr31884Arg)
c.95570C>G (p.Thr31857Arg)
c.77333C>G (p.Thr25778Arg)
c.67187C>G (p.Thr22396Arg)
2g.178532177G=CA1310518112TTN,TTN-AS1c.96734C= (p.Thr32245=)
c.77819C= (p.Thr25940=)
c.77618C= (p.Thr25873=)
c.77243C= (p.Thr25748=)
c.104438C= (p.Thr34813=)
c.99515C= (p.Thr33172=)
n.446+8541G=
n.220-3555G=
c.103535C= (p.Thr34512=)
c.77429C= (p.Thr25810=)
c.77288C= (p.Thr25763=)
c.103331C= (p.Thr34444=)
c.98729C= (p.Thr32910=)
c.98726C= (p.Thr32909=)
c.95768C= (p.Thr31923=)
c.77384C= (p.Thr25795=)
c.98879C= (p.Thr32960=)
c.98876C= (p.Thr32959=)
c.98309C= (p.Thr32770=)
c.95651C= (p.Thr31884=)
c.95570C= (p.Thr31857=)
c.77333C= (p.Thr25778=)
c.67187C= (p.Thr22396=)
2g.178532177G>TCA1985427TTN,TTN-AS1c.96734C>A (p.Thr32245Lys)
c.77819C>A (p.Thr25940Lys)
c.77618C>A (p.Thr25873Lys)
c.77243C>A (p.Thr25748Lys)
c.104438C>A (p.Thr34813Lys)
c.99515C>A (p.Thr33172Lys)
n.446+8541G>T
n.220-3555G>T
c.103535C>A (p.Thr34512Lys)
c.77429C>A (p.Thr25810Lys)
c.77288C>A (p.Thr25763Lys)
c.103331C>A (p.Thr34444Lys)
c.98729C>A (p.Thr32910Lys)
c.98726C>A (p.Thr32909Lys)
c.95768C>A (p.Thr31923Lys)
c.77384C>A (p.Thr25795Lys)
c.98879C>A (p.Thr32960Lys)
c.98876C>A (p.Thr32959Lys)
c.98309C>A (p.Thr32770Lys)
c.95651C>A (p.Thr31884Lys)
c.95570C>A (p.Thr31857Lys)
c.77333C>A (p.Thr25778Lys)
c.67187C>A (p.Thr22396Lys)
 ClinVar dbSNP ExAC gnomAD v2
2g.178532178T>ACA349411733TTN,TTN-AS1c.96733A>T (p.Thr32245Ser)
c.77818A>T (p.Thr25940Ser)
c.77617A>T (p.Thr25873Ser)
c.77242A>T (p.Thr25748Ser)
c.104437A>T (p.Thr34813Ser)
c.99514A>T (p.Thr33172Ser)
n.446+8542T>A
n.220-3554T>A
c.103534A>T (p.Thr34512Ser)
c.77428A>T (p.Thr25810Ser)
c.77287A>T (p.Thr25763Ser)
c.103330A>T (p.Thr34444Ser)
c.98728A>T (p.Thr32910Ser)
c.98725A>T (p.Thr32909Ser)
c.95767A>T (p.Thr31923Ser)
c.77383A>T (p.Thr25795Ser)
c.98878A>T (p.Thr32960Ser)
c.98875A>T (p.Thr32959Ser)
c.98308A>T (p.Thr32770Ser)
c.95650A>T (p.Thr31884Ser)
c.95569A>T (p.Thr31857Ser)
c.77332A>T (p.Thr25778Ser)
c.67186A>T (p.Thr22396Ser)
2g.178532178T>CCA349411734TTN,TTN-AS1c.96733A>G (p.Thr32245Ala)
c.77818A>G (p.Thr25940Ala)
c.77617A>G (p.Thr25873Ala)
c.77242A>G (p.Thr25748Ala)
c.104437A>G (p.Thr34813Ala)
c.99514A>G (p.Thr33172Ala)
n.446+8542T>C
n.220-3554T>C
c.103534A>G (p.Thr34512Ala)
c.77428A>G (p.Thr25810Ala)
c.77287A>G (p.Thr25763Ala)
c.103330A>G (p.Thr34444Ala)
c.98728A>G (p.Thr32910Ala)
c.98725A>G (p.Thr32909Ala)
c.95767A>G (p.Thr31923Ala)
c.77383A>G (p.Thr25795Ala)
c.98878A>G (p.Thr32960Ala)
c.98875A>G (p.Thr32959Ala)
c.98308A>G (p.Thr32770Ala)
c.95650A>G (p.Thr31884Ala)
c.95569A>G (p.Thr31857Ala)
c.77332A>G (p.Thr25778Ala)
c.67186A>G (p.Thr22396Ala)
2g.178532178T>GCA349411735TTN,TTN-AS1c.96733A>C (p.Thr32245Pro)
c.77818A>C (p.Thr25940Pro)
c.77617A>C (p.Thr25873Pro)
c.77242A>C (p.Thr25748Pro)
c.104437A>C (p.Thr34813Pro)
c.99514A>C (p.Thr33172Pro)
n.446+8542T>G
n.220-3554T>G
c.103534A>C (p.Thr34512Pro)
c.77428A>C (p.Thr25810Pro)
c.77287A>C (p.Thr25763Pro)
c.103330A>C (p.Thr34444Pro)
c.98728A>C (p.Thr32910Pro)
c.98725A>C (p.Thr32909Pro)
c.95767A>C (p.Thr31923Pro)
c.77383A>C (p.Thr25795Pro)
c.98878A>C (p.Thr32960Pro)
c.98875A>C (p.Thr32959Pro)
c.98308A>C (p.Thr32770Pro)
c.95650A>C (p.Thr31884Pro)
c.95569A>C (p.Thr31857Pro)
c.77332A>C (p.Thr25778Pro)
c.67186A>C (p.Thr22396Pro)
2g.178532179T>ACA430235911TTN,TTN-AS1c.96732A>T (p.Ile32244=)
c.77817A>T (p.Ile25939=)
c.77616A>T (p.Ile25872=)
c.77241A>T (p.Ile25747=)
c.104436A>T (p.Ile34812=)
c.99513A>T (p.Ile33171=)
n.446+8543T>A
n.220-3553T>A
c.103533A>T (p.Ile34511=)
c.77427A>T (p.Ile25809=)
c.77286A>T (p.Ile25762=)
c.103329A>T (p.Ile34443=)
c.98727A>T (p.Ile32909=)
c.98724A>T (p.Ile32908=)
c.95766A>T (p.Ile31922=)
c.77382A>T (p.Ile25794=)
c.98877A>T (p.Ile32959=)
c.98874A>T (p.Ile32958=)
c.98307A>T (p.Ile32769=)
c.95649A>T (p.Ile31883=)
c.95568A>T (p.Ile31856=)
c.77331A>T (p.Ile25777=)
c.67185A>T (p.Ile22395=)
2g.178532179T>CCA349411736TTN,TTN-AS1c.96732A>G (p.Ile32244Met)
c.77817A>G (p.Ile25939Met)
c.77616A>G (p.Ile25872Met)
c.77241A>G (p.Ile25747Met)
c.104436A>G (p.Ile34812Met)
c.99513A>G (p.Ile33171Met)
n.446+8543T>C
n.220-3553T>C
c.103533A>G (p.Ile34511Met)
c.77427A>G (p.Ile25809Met)
c.77286A>G (p.Ile25762Met)
c.103329A>G (p.Ile34443Met)
c.98727A>G (p.Ile32909Met)
c.98724A>G (p.Ile32908Met)
c.95766A>G (p.Ile31922Met)
c.77382A>G (p.Ile25794Met)
c.98877A>G (p.Ile32959Met)
c.98874A>G (p.Ile32958Met)
c.98307A>G (p.Ile32769Met)
c.95649A>G (p.Ile31883Met)
c.95568A>G (p.Ile31856Met)
c.77331A>G (p.Ile25777Met)
c.67185A>G (p.Ile22395Met)
2g.178532179T>GCA430235912TTN,TTN-AS1c.96732A>C (p.Ile32244=)
c.77817A>C (p.Ile25939=)
c.77616A>C (p.Ile25872=)
c.77241A>C (p.Ile25747=)
c.104436A>C (p.Ile34812=)
c.99513A>C (p.Ile33171=)
n.446+8543T>G
n.220-3553T>G
c.103533A>C (p.Ile34511=)
c.77427A>C (p.Ile25809=)
c.77286A>C (p.Ile25762=)
c.103329A>C (p.Ile34443=)
c.98727A>C (p.Ile32909=)
c.98724A>C (p.Ile32908=)
c.95766A>C (p.Ile31922=)
c.77382A>C (p.Ile25794=)
c.98877A>C (p.Ile32959=)
c.98874A>C (p.Ile32958=)
c.98307A>C (p.Ile32769=)
c.95649A>C (p.Ile31883=)
c.95568A>C (p.Ile31856=)
c.77331A>C (p.Ile25777=)
c.67185A>C (p.Ile22395=)
2g.178532180A=CA1310518113TTN,TTN-AS1c.96731T= (p.Ile32244=)
c.77816T= (p.Ile25939=)
c.77615T= (p.Ile25872=)
c.77240T= (p.Ile25747=)
c.104435T= (p.Ile34812=)
c.99512T= (p.Ile33171=)
n.446+8544A=
n.220-3552A=
c.103532T= (p.Ile34511=)
c.77426T= (p.Ile25809=)
c.77285T= (p.Ile25762=)
c.103328T= (p.Ile34443=)
c.98726T= (p.Ile32909=)
c.98723T= (p.Ile32908=)
c.95765T= (p.Ile31922=)
c.77381T= (p.Ile25794=)
c.98876T= (p.Ile32959=)
c.98873T= (p.Ile32958=)
c.98306T= (p.Ile32769=)
c.95648T= (p.Ile31883=)
c.95567T= (p.Ile31856=)
c.77330T= (p.Ile25777=)
c.67184T= (p.Ile22395=)
2g.178532180A>CCA349411739TTN,TTN-AS1c.96731T>G (p.Ile32244Arg)
c.77816T>G (p.Ile25939Arg)
c.77615T>G (p.Ile25872Arg)
c.77240T>G (p.Ile25747Arg)
c.104435T>G (p.Ile34812Arg)
c.99512T>G (p.Ile33171Arg)
n.446+8544A>C
n.220-3552A>C
c.103532T>G (p.Ile34511Arg)
c.77426T>G (p.Ile25809Arg)
c.77285T>G (p.Ile25762Arg)
c.103328T>G (p.Ile34443Arg)
c.98726T>G (p.Ile32909Arg)
c.98723T>G (p.Ile32908Arg)
c.95765T>G (p.Ile31922Arg)
c.77381T>G (p.Ile25794Arg)
c.98876T>G (p.Ile32959Arg)
c.98873T>G (p.Ile32958Arg)
c.98306T>G (p.Ile32769Arg)
c.95648T>G (p.Ile31883Arg)
c.95567T>G (p.Ile31856Arg)
c.77330T>G (p.Ile25777Arg)
c.67184T>G (p.Ile22395Arg)
2g.178532180A>GCA349411737TTN,TTN-AS1c.96731T>C (p.Ile32244Thr)
c.77816T>C (p.Ile25939Thr)
c.77615T>C (p.Ile25872Thr)
c.77240T>C (p.Ile25747Thr)
c.104435T>C (p.Ile34812Thr)
c.99512T>C (p.Ile33171Thr)
n.446+8544A>G
n.220-3552A>G
c.103532T>C (p.Ile34511Thr)
c.77426T>C (p.Ile25809Thr)
c.77285T>C (p.Ile25762Thr)
c.103328T>C (p.Ile34443Thr)
c.98726T>C (p.Ile32909Thr)
c.98723T>C (p.Ile32908Thr)
c.95765T>C (p.Ile31922Thr)
c.77381T>C (p.Ile25794Thr)
c.98876T>C (p.Ile32959Thr)
c.98873T>C (p.Ile32958Thr)
c.98306T>C (p.Ile32769Thr)
c.95648T>C (p.Ile31883Thr)
c.95567T>C (p.Ile31856Thr)
c.77330T>C (p.Ile25777Thr)
c.67184T>C (p.Ile22395Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178532180A>TCA349411738TTN,TTN-AS1c.96731T>A (p.Ile32244Lys)
c.77816T>A (p.Ile25939Lys)
c.77615T>A (p.Ile25872Lys)
c.77240T>A (p.Ile25747Lys)
c.104435T>A (p.Ile34812Lys)
c.99512T>A (p.Ile33171Lys)
n.446+8544A>T
n.220-3552A>T
c.103532T>A (p.Ile34511Lys)
c.77426T>A (p.Ile25809Lys)
c.77285T>A (p.Ile25762Lys)
c.103328T>A (p.Ile34443Lys)
c.98726T>A (p.Ile32909Lys)
c.98723T>A (p.Ile32908Lys)
c.95765T>A (p.Ile31922Lys)
c.77381T>A (p.Ile25794Lys)
c.98876T>A (p.Ile32959Lys)
c.98873T>A (p.Ile32958Lys)
c.98306T>A (p.Ile32769Lys)
c.95648T>A (p.Ile31883Lys)
c.95567T>A (p.Ile31856Lys)
c.77330T>A (p.Ile25777Lys)
c.67184T>A (p.Ile22395Lys)
2g.178532181T>ACA349411740TTN,TTN-AS1c.96730A>T (p.Ile32244Leu)
c.77815A>T (p.Ile25939Leu)
c.77614A>T (p.Ile25872Leu)
c.77239A>T (p.Ile25747Leu)
c.104434A>T (p.Ile34812Leu)
c.99511A>T (p.Ile33171Leu)
n.446+8545T>A
n.220-3551T>A
c.103531A>T (p.Ile34511Leu)
c.77425A>T (p.Ile25809Leu)
c.77284A>T (p.Ile25762Leu)
c.103327A>T (p.Ile34443Leu)
c.98725A>T (p.Ile32909Leu)
c.98722A>T (p.Ile32908Leu)
c.95764A>T (p.Ile31922Leu)
c.77380A>T (p.Ile25794Leu)
c.98875A>T (p.Ile32959Leu)
c.98872A>T (p.Ile32958Leu)
c.98305A>T (p.Ile32769Leu)
c.95647A>T (p.Ile31883Leu)
c.95566A>T (p.Ile31856Leu)
c.77329A>T (p.Ile25777Leu)
c.67183A>T (p.Ile22395Leu)
2g.178532181T>CCA349411741TTN,TTN-AS1c.96730A>G (p.Ile32244Val)
c.77815A>G (p.Ile25939Val)
c.77614A>G (p.Ile25872Val)
c.77239A>G (p.Ile25747Val)
c.104434A>G (p.Ile34812Val)
c.99511A>G (p.Ile33171Val)
n.446+8545T>C
n.220-3551T>C
c.103531A>G (p.Ile34511Val)
c.77425A>G (p.Ile25809Val)
c.77284A>G (p.Ile25762Val)
c.103327A>G (p.Ile34443Val)
c.98725A>G (p.Ile32909Val)
c.98722A>G (p.Ile32908Val)
c.95764A>G (p.Ile31922Val)
c.77380A>G (p.Ile25794Val)
c.98875A>G (p.Ile32959Val)
c.98872A>G (p.Ile32958Val)
c.98305A>G (p.Ile32769Val)
c.95647A>G (p.Ile31883Val)
c.95566A>G (p.Ile31856Val)
c.77329A>G (p.Ile25777Val)
c.67183A>G (p.Ile22395Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178532181T>GCA349411742TTN,TTN-AS1c.96730A>C (p.Ile32244Leu)
c.77815A>C (p.Ile25939Leu)
c.77614A>C (p.Ile25872Leu)
c.77239A>C (p.Ile25747Leu)
c.104434A>C (p.Ile34812Leu)
c.99511A>C (p.Ile33171Leu)
n.446+8545T>G
n.220-3551T>G
c.103531A>C (p.Ile34511Leu)
c.77425A>C (p.Ile25809Leu)
c.77284A>C (p.Ile25762Leu)
c.103327A>C (p.Ile34443Leu)
c.98725A>C (p.Ile32909Leu)
c.98722A>C (p.Ile32908Leu)
c.95764A>C (p.Ile31922Leu)
c.77380A>C (p.Ile25794Leu)
c.98875A>C (p.Ile32959Leu)
c.98872A>C (p.Ile32958Leu)
c.98305A>C (p.Ile32769Leu)
c.95647A>C (p.Ile31883Leu)
c.95566A>C (p.Ile31856Leu)
c.77329A>C (p.Ile25777Leu)
c.67183A>C (p.Ile22395Leu)
2g.178532181T=CA1310518114TTN,TTN-AS1c.96730A= (p.Ile32244=)
c.77815A= (p.Ile25939=)
c.77614A= (p.Ile25872=)
c.77239A= (p.Ile25747=)
c.104434A= (p.Ile34812=)
c.99511A= (p.Ile33171=)
n.446+8545T=
n.220-3551T=
c.103531A= (p.Ile34511=)
c.77425A= (p.Ile25809=)
c.77284A= (p.Ile25762=)
c.103327A= (p.Ile34443=)
c.98725A= (p.Ile32909=)
c.98722A= (p.Ile32908=)
c.95764A= (p.Ile31922=)
c.77380A= (p.Ile25794=)
c.98875A= (p.Ile32959=)
c.98872A= (p.Ile32958=)
c.98305A= (p.Ile32769=)
c.95647A= (p.Ile31883=)
c.95566A= (p.Ile31856=)
c.77329A= (p.Ile25777=)
c.67183A= (p.Ile22395=)
2g.178532182T>ACA349411743TTN,TTN-AS1c.96729A>T (p.Glu32243Asp)
c.77814A>T (p.Glu25938Asp)
c.77613A>T (p.Glu25871Asp)
c.77238A>T (p.Glu25746Asp)
c.104433A>T (p.Glu34811Asp)
c.99510A>T (p.Glu33170Asp)
n.446+8546T>A
n.220-3550T>A
c.103530A>T (p.Glu34510Asp)
c.77424A>T (p.Glu25808Asp)
c.77283A>T (p.Glu25761Asp)
c.103326A>T (p.Glu34442Asp)
c.98724A>T (p.Glu32908Asp)
c.98721A>T (p.Glu32907Asp)
c.95763A>T (p.Glu31921Asp)
c.77379A>T (p.Glu25793Asp)
c.98874A>T (p.Glu32958Asp)
c.98871A>T (p.Glu32957Asp)
c.98304A>T (p.Glu32768Asp)
c.95646A>T (p.Glu31882Asp)
c.95565A>T (p.Glu31855Asp)
c.77328A>T (p.Glu25776Asp)
c.67182A>T (p.Glu22394Asp)
2g.178532182T>CCA430235913TTN,TTN-AS1c.96729A>G (p.Glu32243=)
c.77814A>G (p.Glu25938=)
c.77613A>G (p.Glu25871=)
c.77238A>G (p.Glu25746=)
c.104433A>G (p.Glu34811=)
c.99510A>G (p.Glu33170=)
n.446+8546T>C
n.220-3550T>C
c.103530A>G (p.Glu34510=)
c.77424A>G (p.Glu25808=)
c.77283A>G (p.Glu25761=)
c.103326A>G (p.Glu34442=)
c.98724A>G (p.Glu32908=)
c.98721A>G (p.Glu32907=)
c.95763A>G (p.Glu31921=)
c.77379A>G (p.Glu25793=)
c.98874A>G (p.Glu32958=)
c.98871A>G (p.Glu32957=)
c.98304A>G (p.Glu32768=)
c.95646A>G (p.Glu31882=)
c.95565A>G (p.Glu31855=)
c.77328A>G (p.Glu25776=)
c.67182A>G (p.Glu22394=)
2g.178532182T>GCA349411744TTN,TTN-AS1c.96729A>C (p.Glu32243Asp)
c.77814A>C (p.Glu25938Asp)
c.77613A>C (p.Glu25871Asp)
c.77238A>C (p.Glu25746Asp)
c.104433A>C (p.Glu34811Asp)
c.99510A>C (p.Glu33170Asp)
n.446+8546T>G
n.220-3550T>G
c.103530A>C (p.Glu34510Asp)
c.77424A>C (p.Glu25808Asp)
c.77283A>C (p.Glu25761Asp)
c.103326A>C (p.Glu34442Asp)
c.98724A>C (p.Glu32908Asp)
c.98721A>C (p.Glu32907Asp)
c.95763A>C (p.Glu31921Asp)
c.77379A>C (p.Glu25793Asp)
c.98874A>C (p.Glu32958Asp)
c.98871A>C (p.Glu32957Asp)
c.98304A>C (p.Glu32768Asp)
c.95646A>C (p.Glu31882Asp)
c.95565A>C (p.Glu31855Asp)
c.77328A>C (p.Glu25776Asp)
c.67182A>C (p.Glu22394Asp)
2g.178532183T>ACA349411745TTN,TTN-AS1c.96728A>T (p.Glu32243Val)
c.77813A>T (p.Glu25938Val)
c.77612A>T (p.Glu25871Val)
c.77237A>T (p.Glu25746Val)
c.104432A>T (p.Glu34811Val)
c.99509A>T (p.Glu33170Val)
n.446+8547T>A
n.220-3549T>A
c.103529A>T (p.Glu34510Val)
c.77423A>T (p.Glu25808Val)
c.77282A>T (p.Glu25761Val)
c.103325A>T (p.Glu34442Val)
c.98723A>T (p.Glu32908Val)
c.98720A>T (p.Glu32907Val)
c.95762A>T (p.Glu31921Val)
c.77378A>T (p.Glu25793Val)
c.98873A>T (p.Glu32958Val)
c.98870A>T (p.Glu32957Val)
c.98303A>T (p.Glu32768Val)
c.95645A>T (p.Glu31882Val)
c.95564A>T (p.Glu31855Val)
c.77327A>T (p.Glu25776Val)
c.67181A>T (p.Glu22394Val)
2g.178532183T>CCA349411746TTN,TTN-AS1c.96728A>G (p.Glu32243Gly)
c.77813A>G (p.Glu25938Gly)
c.77612A>G (p.Glu25871Gly)
c.77237A>G (p.Glu25746Gly)
c.104432A>G (p.Glu34811Gly)
c.99509A>G (p.Glu33170Gly)
n.446+8547T>C
n.220-3549T>C
c.103529A>G (p.Glu34510Gly)
c.77423A>G (p.Glu25808Gly)
c.77282A>G (p.Glu25761Gly)
c.103325A>G (p.Glu34442Gly)
c.98723A>G (p.Glu32908Gly)
c.98720A>G (p.Glu32907Gly)
c.95762A>G (p.Glu31921Gly)
c.77378A>G (p.Glu25793Gly)
c.98873A>G (p.Glu32958Gly)
c.98870A>G (p.Glu32957Gly)
c.98303A>G (p.Glu32768Gly)
c.95645A>G (p.Glu31882Gly)
c.95564A>G (p.Glu31855Gly)
c.77327A>G (p.Glu25776Gly)
c.67181A>G (p.Glu22394Gly)
2g.178532183T>GCA349411747TTN,TTN-AS1c.96728A>C (p.Glu32243Ala)
c.77813A>C (p.Glu25938Ala)
c.77612A>C (p.Glu25871Ala)
c.77237A>C (p.Glu25746Ala)
c.104432A>C (p.Glu34811Ala)
c.99509A>C (p.Glu33170Ala)
n.446+8547T>G
n.220-3549T>G
c.103529A>C (p.Glu34510Ala)
c.77423A>C (p.Glu25808Ala)
c.77282A>C (p.Glu25761Ala)
c.103325A>C (p.Glu34442Ala)
c.98723A>C (p.Glu32908Ala)
c.98720A>C (p.Glu32907Ala)
c.95762A>C (p.Glu31921Ala)
c.77378A>C (p.Glu25793Ala)
c.98873A>C (p.Glu32958Ala)
c.98870A>C (p.Glu32957Ala)
c.98303A>C (p.Glu32768Ala)
c.95645A>C (p.Glu31882Ala)
c.95564A>C (p.Glu31855Ala)
c.77327A>C (p.Glu25776Ala)
c.67181A>C (p.Glu22394Ala)
2g.178532184C>ACA349411748TTN,TTN-AS1c.96727G>T (p.Glu32243Ter)
c.77812G>T (p.Glu25938Ter)
c.77611G>T (p.Glu25871Ter)
c.77236G>T (p.Glu25746Ter)
c.104431G>T (p.Glu34811Ter)
c.99508G>T (p.Glu33170Ter)
n.446+8548C>A
n.220-3548C>A
c.103528G>T (p.Glu34510Ter)
c.77422G>T (p.Glu25808Ter)
c.77281G>T (p.Glu25761Ter)
c.103324G>T (p.Glu34442Ter)
c.98722G>T (p.Glu32908Ter)
c.98719G>T (p.Glu32907Ter)
c.95761G>T (p.Glu31921Ter)
c.77377G>T (p.Glu25793Ter)
c.98872G>T (p.Glu32958Ter)
c.98869G>T (p.Glu32957Ter)
c.98302G>T (p.Glu32768Ter)
c.95644G>T (p.Glu31882Ter)
c.95563G>T (p.Glu31855Ter)
c.77326G>T (p.Glu25776Ter)
c.67180G>T (p.Glu22394Ter)
2g.178532184C>GCA349411749TTN,TTN-AS1c.96727G>C (p.Glu32243Gln)
c.77812G>C (p.Glu25938Gln)
c.77611G>C (p.Glu25871Gln)
c.77236G>C (p.Glu25746Gln)
c.104431G>C (p.Glu34811Gln)
c.99508G>C (p.Glu33170Gln)
n.446+8548C>G
n.220-3548C>G
c.103528G>C (p.Glu34510Gln)
c.77422G>C (p.Glu25808Gln)
c.77281G>C (p.Glu25761Gln)
c.103324G>C (p.Glu34442Gln)
c.98722G>C (p.Glu32908Gln)
c.98719G>C (p.Glu32907Gln)
c.95761G>C (p.Glu31921Gln)
c.77377G>C (p.Glu25793Gln)
c.98872G>C (p.Glu32958Gln)
c.98869G>C (p.Glu32957Gln)
c.98302G>C (p.Glu32768Gln)
c.95644G>C (p.Glu31882Gln)
c.95563G>C (p.Glu31855Gln)
c.77326G>C (p.Glu25776Gln)
c.67180G>C (p.Glu22394Gln)
2g.178532184C>TCA349411750TTN,TTN-AS1c.96727G>A (p.Glu32243Lys)
c.77812G>A (p.Glu25938Lys)
c.77611G>A (p.Glu25871Lys)
c.77236G>A (p.Glu25746Lys)
c.104431G>A (p.Glu34811Lys)
c.99508G>A (p.Glu33170Lys)
n.446+8548C>T
n.220-3548C>T
c.103528G>A (p.Glu34510Lys)
c.77422G>A (p.Glu25808Lys)
c.77281G>A (p.Glu25761Lys)
c.103324G>A (p.Glu34442Lys)
c.98722G>A (p.Glu32908Lys)
c.98719G>A (p.Glu32907Lys)
c.95761G>A (p.Glu31921Lys)
c.77377G>A (p.Glu25793Lys)
c.98872G>A (p.Glu32958Lys)
c.98869G>A (p.Glu32957Lys)
c.98302G>A (p.Glu32768Lys)
c.95644G>A (p.Glu31882Lys)
c.95563G>A (p.Glu31855Lys)
c.77326G>A (p.Glu25776Lys)
c.67180G>A (p.Glu22394Lys)
2g.178532185T>ACA430235916TTN,TTN-AS1c.96726A>T (p.Thr32242=)
c.77811A>T (p.Thr25937=)
c.77610A>T (p.Thr25870=)
c.77235A>T (p.Thr25745=)
c.104430A>T (p.Thr34810=)
c.99507A>T (p.Thr33169=)
n.446+8549T>A
n.220-3547T>A
c.103527A>T (p.Thr34509=)
c.77421A>T (p.Thr25807=)
c.77280A>T (p.Thr25760=)
c.103323A>T (p.Thr34441=)
c.98721A>T (p.Thr32907=)
c.98718A>T (p.Thr32906=)
c.95760A>T (p.Thr31920=)
c.77376A>T (p.Thr25792=)
c.98871A>T (p.Thr32957=)
c.98868A>T (p.Thr32956=)
c.98301A>T (p.Thr32767=)
c.95643A>T (p.Thr31881=)
c.95562A>T (p.Thr31854=)
c.77325A>T (p.Thr25775=)
c.67179A>T (p.Thr22393=)
2g.178532185T>CCA430235915TTN,TTN-AS1c.96726A>G (p.Thr32242=)
c.77811A>G (p.Thr25937=)
c.77610A>G (p.Thr25870=)
c.77235A>G (p.Thr25745=)
c.104430A>G (p.Thr34810=)
c.99507A>G (p.Thr33169=)
n.446+8549T>C
n.220-3547T>C
c.103527A>G (p.Thr34509=)
c.77421A>G (p.Thr25807=)
c.77280A>G (p.Thr25760=)
c.103323A>G (p.Thr34441=)
c.98721A>G (p.Thr32907=)
c.98718A>G (p.Thr32906=)
c.95760A>G (p.Thr31920=)
c.77376A>G (p.Thr25792=)
c.98871A>G (p.Thr32957=)
c.98868A>G (p.Thr32956=)
c.98301A>G (p.Thr32767=)
c.95643A>G (p.Thr31881=)
c.95562A>G (p.Thr31854=)
c.77325A>G (p.Thr25775=)
c.67179A>G (p.Thr22393=)
2g.178532185T>GCA430235914TTN,TTN-AS1c.96726A>C (p.Thr32242=)
c.77811A>C (p.Thr25937=)
c.77610A>C (p.Thr25870=)
c.77235A>C (p.Thr25745=)
c.104430A>C (p.Thr34810=)
c.99507A>C (p.Thr33169=)
n.446+8549T>G
n.220-3547T>G
c.103527A>C (p.Thr34509=)
c.77421A>C (p.Thr25807=)
c.77280A>C (p.Thr25760=)
c.103323A>C (p.Thr34441=)
c.98721A>C (p.Thr32907=)
c.98718A>C (p.Thr32906=)
c.95760A>C (p.Thr31920=)
c.77376A>C (p.Thr25792=)
c.98871A>C (p.Thr32957=)
c.98868A>C (p.Thr32956=)
c.98301A>C (p.Thr32767=)
c.95643A>C (p.Thr31881=)
c.95562A>C (p.Thr31854=)
c.77325A>C (p.Thr25775=)
c.67179A>C (p.Thr22393=)
2g.178532186G>ACA349411753TTN,TTN-AS1c.96725C>T (p.Thr32242Ile)
c.77810C>T (p.Thr25937Ile)
c.77609C>T (p.Thr25870Ile)
c.77234C>T (p.Thr25745Ile)
c.104429C>T (p.Thr34810Ile)
c.99506C>T (p.Thr33169Ile)
n.446+8550G>A
n.220-3546G>A
c.103526C>T (p.Thr34509Ile)
c.77420C>T (p.Thr25807Ile)
c.77279C>T (p.Thr25760Ile)
c.103322C>T (p.Thr34441Ile)
c.98720C>T (p.Thr32907Ile)
c.98717C>T (p.Thr32906Ile)
c.95759C>T (p.Thr31920Ile)
c.77375C>T (p.Thr25792Ile)
c.98870C>T (p.Thr32957Ile)
c.98867C>T (p.Thr32956Ile)
c.98300C>T (p.Thr32767Ile)
c.95642C>T (p.Thr31881Ile)
c.95561C>T (p.Thr31854Ile)
c.77324C>T (p.Thr25775Ile)
c.67178C>T (p.Thr22393Ile)
2g.178532186G>CCA349411751TTN,TTN-AS1c.96725C>G (p.Thr32242Arg)
c.77810C>G (p.Thr25937Arg)
c.77609C>G (p.Thr25870Arg)
c.77234C>G (p.Thr25745Arg)
c.104429C>G (p.Thr34810Arg)
c.99506C>G (p.Thr33169Arg)
n.446+8550G>C
n.220-3546G>C
c.103526C>G (p.Thr34509Arg)
c.77420C>G (p.Thr25807Arg)
c.77279C>G (p.Thr25760Arg)
c.103322C>G (p.Thr34441Arg)
c.98720C>G (p.Thr32907Arg)
c.98717C>G (p.Thr32906Arg)
c.95759C>G (p.Thr31920Arg)
c.77375C>G (p.Thr25792Arg)
c.98870C>G (p.Thr32957Arg)
c.98867C>G (p.Thr32956Arg)
c.98300C>G (p.Thr32767Arg)
c.95642C>G (p.Thr31881Arg)
c.95561C>G (p.Thr31854Arg)
c.77324C>G (p.Thr25775Arg)
c.67178C>G (p.Thr22393Arg)
2g.178532186G>TCA349411752TTN,TTN-AS1c.96725C>A (p.Thr32242Lys)
c.77810C>A (p.Thr25937Lys)
c.77609C>A (p.Thr25870Lys)
c.77234C>A (p.Thr25745Lys)
c.104429C>A (p.Thr34810Lys)
c.99506C>A (p.Thr33169Lys)
n.446+8550G>T
n.220-3546G>T
c.103526C>A (p.Thr34509Lys)
c.77420C>A (p.Thr25807Lys)
c.77279C>A (p.Thr25760Lys)
c.103322C>A (p.Thr34441Lys)
c.98720C>A (p.Thr32907Lys)
c.98717C>A (p.Thr32906Lys)
c.95759C>A (p.Thr31920Lys)
c.77375C>A (p.Thr25792Lys)
c.98870C>A (p.Thr32957Lys)
c.98867C>A (p.Thr32956Lys)
c.98300C>A (p.Thr32767Lys)
c.95642C>A (p.Thr31881Lys)
c.95561C>A (p.Thr31854Lys)
c.77324C>A (p.Thr25775Lys)
c.67178C>A (p.Thr22393Lys)
2g.178532187T>ACA349411754TTN,TTN-AS1c.96724A>T (p.Thr32242Ser)
c.77809A>T (p.Thr25937Ser)
c.77608A>T (p.Thr25870Ser)
c.77233A>T (p.Thr25745Ser)
c.104428A>T (p.Thr34810Ser)
c.99505A>T (p.Thr33169Ser)
n.446+8551T>A
n.220-3545T>A
c.103525A>T (p.Thr34509Ser)
c.77419A>T (p.Thr25807Ser)
c.77278A>T (p.Thr25760Ser)
c.103321A>T (p.Thr34441Ser)
c.98719A>T (p.Thr32907Ser)
c.98716A>T (p.Thr32906Ser)
c.95758A>T (p.Thr31920Ser)
c.77374A>T (p.Thr25792Ser)
c.98869A>T (p.Thr32957Ser)
c.98866A>T (p.Thr32956Ser)
c.98299A>T (p.Thr32767Ser)
c.95641A>T (p.Thr31881Ser)
c.95560A>T (p.Thr31854Ser)
c.77323A>T (p.Thr25775Ser)
c.67177A>T (p.Thr22393Ser)
2g.178532187T>CCA349411755TTN,TTN-AS1c.96724A>G (p.Thr32242Ala)
c.77809A>G (p.Thr25937Ala)
c.77608A>G (p.Thr25870Ala)
c.77233A>G (p.Thr25745Ala)
c.104428A>G (p.Thr34810Ala)
c.99505A>G (p.Thr33169Ala)
n.446+8551T>C
n.220-3545T>C
c.103525A>G (p.Thr34509Ala)
c.77419A>G (p.Thr25807Ala)
c.77278A>G (p.Thr25760Ala)
c.103321A>G (p.Thr34441Ala)
c.98719A>G (p.Thr32907Ala)
c.98716A>G (p.Thr32906Ala)
c.95758A>G (p.Thr31920Ala)
c.77374A>G (p.Thr25792Ala)
c.98869A>G (p.Thr32957Ala)
c.98866A>G (p.Thr32956Ala)
c.98299A>G (p.Thr32767Ala)
c.95641A>G (p.Thr31881Ala)
c.95560A>G (p.Thr31854Ala)
c.77323A>G (p.Thr25775Ala)
c.67177A>G (p.Thr22393Ala)
2g.178532187T>GCA349411756TTN,TTN-AS1c.96724A>C (p.Thr32242Pro)
c.77809A>C (p.Thr25937Pro)
c.77608A>C (p.Thr25870Pro)
c.77233A>C (p.Thr25745Pro)
c.104428A>C (p.Thr34810Pro)
c.99505A>C (p.Thr33169Pro)
n.446+8551T>G
n.220-3545T>G
c.103525A>C (p.Thr34509Pro)
c.77419A>C (p.Thr25807Pro)
c.77278A>C (p.Thr25760Pro)
c.103321A>C (p.Thr34441Pro)
c.98719A>C (p.Thr32907Pro)
c.98716A>C (p.Thr32906Pro)
c.95758A>C (p.Thr31920Pro)
c.77374A>C (p.Thr25792Pro)
c.98869A>C (p.Thr32957Pro)
c.98866A>C (p.Thr32956Pro)
c.98299A>C (p.Thr32767Pro)
c.95641A>C (p.Thr31881Pro)
c.95560A>C (p.Thr31854Pro)
c.77323A>C (p.Thr25775Pro)
c.67177A>C (p.Thr22393Pro)
2g.178532188C>ACA430235917TTN,TTN-AS1c.96723G>T (p.Val32241=)
c.77808G>T (p.Val25936=)
c.77607G>T (p.Val25869=)
c.77232G>T (p.Val25744=)
c.104427G>T (p.Val34809=)
c.99504G>T (p.Val33168=)
n.446+8552C>A
n.220-3544C>A
c.103524G>T (p.Val34508=)
c.77418G>T (p.Val25806=)
c.77277G>T (p.Val25759=)
c.103320G>T (p.Val34440=)
c.98718G>T (p.Val32906=)
c.98715G>T (p.Val32905=)
c.95757G>T (p.Val31919=)
c.77373G>T (p.Val25791=)
c.98868G>T (p.Val32956=)
c.98865G>T (p.Val32955=)
c.98298G>T (p.Val32766=)
c.95640G>T (p.Val31880=)
c.95559G>T (p.Val31853=)
c.77322G>T (p.Val25774=)
c.67176G>T (p.Val22392=)
2g.178532188C>GCA430235919TTN,TTN-AS1c.96723G>C (p.Val32241=)
c.77808G>C (p.Val25936=)
c.77607G>C (p.Val25869=)
c.77232G>C (p.Val25744=)
c.104427G>C (p.Val34809=)
c.99504G>C (p.Val33168=)
n.446+8552C>G
n.220-3544C>G
c.103524G>C (p.Val34508=)
c.77418G>C (p.Val25806=)
c.77277G>C (p.Val25759=)
c.103320G>C (p.Val34440=)
c.98718G>C (p.Val32906=)
c.98715G>C (p.Val32905=)
c.95757G>C (p.Val31919=)
c.77373G>C (p.Val25791=)
c.98868G>C (p.Val32956=)
c.98865G>C (p.Val32955=)
c.98298G>C (p.Val32766=)
c.95640G>C (p.Val31880=)
c.95559G>C (p.Val31853=)
c.77322G>C (p.Val25774=)
c.67176G>C (p.Val22392=)
2g.178532188C>TCA430235918TTN,TTN-AS1c.96723G>A (p.Val32241=)
c.77808G>A (p.Val25936=)
c.77607G>A (p.Val25869=)
c.77232G>A (p.Val25744=)
c.104427G>A (p.Val34809=)
c.99504G>A (p.Val33168=)
n.446+8552C>T
n.220-3544C>T
c.103524G>A (p.Val34508=)
c.77418G>A (p.Val25806=)
c.77277G>A (p.Val25759=)
c.103320G>A (p.Val34440=)
c.98718G>A (p.Val32906=)
c.98715G>A (p.Val32905=)
c.95757G>A (p.Val31919=)
c.77373G>A (p.Val25791=)
c.98868G>A (p.Val32956=)
c.98865G>A (p.Val32955=)
c.98298G>A (p.Val32766=)
c.95640G>A (p.Val31880=)
c.95559G>A (p.Val31853=)
c.77322G>A (p.Val25774=)
c.67176G>A (p.Val22392=)
2g.178532189A>CCA349411757TTN,TTN-AS1c.96722T>G (p.Val32241Gly)
c.77807T>G (p.Val25936Gly)
c.77606T>G (p.Val25869Gly)
c.77231T>G (p.Val25744Gly)
c.104426T>G (p.Val34809Gly)
c.99503T>G (p.Val33168Gly)
n.446+8553A>C
n.220-3543A>C
c.103523T>G (p.Val34508Gly)
c.77417T>G (p.Val25806Gly)
c.77276T>G (p.Val25759Gly)
c.103319T>G (p.Val34440Gly)
c.98717T>G (p.Val32906Gly)
c.98714T>G (p.Val32905Gly)
c.95756T>G (p.Val31919Gly)
c.77372T>G (p.Val25791Gly)
c.98867T>G (p.Val32956Gly)
c.98864T>G (p.Val32955Gly)
c.98297T>G (p.Val32766Gly)
c.95639T>G (p.Val31880Gly)
c.95558T>G (p.Val31853Gly)
c.77321T>G (p.Val25774Gly)
c.67175T>G (p.Val22392Gly)
2g.178532189A>GCA349411758TTN,TTN-AS1c.96722T>C (p.Val32241Ala)
c.77807T>C (p.Val25936Ala)
c.77606T>C (p.Val25869Ala)
c.77231T>C (p.Val25744Ala)
c.104426T>C (p.Val34809Ala)
c.99503T>C (p.Val33168Ala)
n.446+8553A>G
n.220-3543A>G
c.103523T>C (p.Val34508Ala)
c.77417T>C (p.Val25806Ala)
c.77276T>C (p.Val25759Ala)
c.103319T>C (p.Val34440Ala)
c.98717T>C (p.Val32906Ala)
c.98714T>C (p.Val32905Ala)
c.95756T>C (p.Val31919Ala)
c.77372T>C (p.Val25791Ala)
c.98867T>C (p.Val32956Ala)
c.98864T>C (p.Val32955Ala)
c.98297T>C (p.Val32766Ala)
c.95639T>C (p.Val31880Ala)
c.95558T>C (p.Val31853Ala)
c.77321T>C (p.Val25774Ala)
c.67175T>C (p.Val22392Ala)
2g.178532189A>TCA349411759TTN,TTN-AS1c.96722T>A (p.Val32241Glu)
c.77807T>A (p.Val25936Glu)
c.77606T>A (p.Val25869Glu)
c.77231T>A (p.Val25744Glu)
c.104426T>A (p.Val34809Glu)
c.99503T>A (p.Val33168Glu)
n.446+8553A>T
n.220-3543A>T
c.103523T>A (p.Val34508Glu)
c.77417T>A (p.Val25806Glu)
c.77276T>A (p.Val25759Glu)
c.103319T>A (p.Val34440Glu)
c.98717T>A (p.Val32906Glu)
c.98714T>A (p.Val32905Glu)
c.95756T>A (p.Val31919Glu)
c.77372T>A (p.Val25791Glu)
c.98867T>A (p.Val32956Glu)
c.98864T>A (p.Val32955Glu)
c.98297T>A (p.Val32766Glu)
c.95639T>A (p.Val31880Glu)
c.95558T>A (p.Val31853Glu)
c.77321T>A (p.Val25774Glu)
c.67175T>A (p.Val22392Glu)
2g.178532189_178532194delinsACTTCTCA1310518115TTN,TTN-AS1c.96717_96722delinsAGAAGT (p.Arg32239=)
c.77802_77807delinsAGAAGT (p.Arg25934=)
c.77601_77606delinsAGAAGT (p.Arg25867=)
c.77226_77231delinsAGAAGT (p.Arg25742=)
c.104421_104426delinsAGAAGT (p.Arg34807=)
c.99498_99503delinsAGAAGT (p.Arg33166=)
n.446+8553_446+8558delinsACTTCT
n.220-3543_220-3538delinsACTTCT
c.103518_103523delinsAGAAGT (p.Arg34506=)
c.77412_77417delinsAGAAGT (p.Arg25804=)
c.77271_77276delinsAGAAGT (p.Arg25757=)
c.103314_103319delinsAGAAGT (p.Arg34438=)
c.98712_98717delinsAGAAGT (p.Arg32904=)
c.98709_98714delinsAGAAGT (p.Arg32903=)
c.95751_95756delinsAGAAGT (p.Arg31917=)
c.77367_77372delinsAGAAGT (p.Arg25789=)
c.98862_98867delinsAGAAGT (p.Arg32954=)
c.98859_98864delinsAGAAGT (p.Arg32953=)
c.98292_98297delinsAGAAGT (p.Arg32764=)
c.95634_95639delinsAGAAGT (p.Arg31878=)
c.95553_95558delinsAGAAGT (p.Arg31851=)
c.77316_77321delinsAGAAGT (p.Arg25772=)
c.67170_67175delinsAGAAGT (p.Arg22390=)
2g.178532190C>ACA349411760TTN,TTN-AS1c.96721G>T (p.Val32241Leu)
c.77806G>T (p.Val25936Leu)
c.77605G>T (p.Val25869Leu)
c.77230G>T (p.Val25744Leu)
c.104425G>T (p.Val34809Leu)
c.99502G>T (p.Val33168Leu)
n.446+8554C>A
n.220-3542C>A
c.103522G>T (p.Val34508Leu)
c.77416G>T (p.Val25806Leu)
c.77275G>T (p.Val25759Leu)
c.103318G>T (p.Val34440Leu)
c.98716G>T (p.Val32906Leu)
c.98713G>T (p.Val32905Leu)
c.95755G>T (p.Val31919Leu)
c.77371G>T (p.Val25791Leu)
c.98866G>T (p.Val32956Leu)
c.98863G>T (p.Val32955Leu)
c.98296G>T (p.Val32766Leu)
c.95638G>T (p.Val31880Leu)
c.95557G>T (p.Val31853Leu)
c.77320G>T (p.Val25774Leu)
c.67174G>T (p.Val22392Leu)
2g.178532190C=CA1310518116TTN,TTN-AS1c.96721G= (p.Val32241=)
c.77806G= (p.Val25936=)
c.77605G= (p.Val25869=)
c.77230G= (p.Val25744=)
c.104425G= (p.Val34809=)
c.99502G= (p.Val33168=)
n.446+8554C=
n.220-3542C=
c.103522G= (p.Val34508=)
c.77416G= (p.Val25806=)
c.77275G= (p.Val25759=)
c.103318G= (p.Val34440=)
c.98716G= (p.Val32906=)
c.98713G= (p.Val32905=)
c.95755G= (p.Val31919=)
c.77371G= (p.Val25791=)
c.98866G= (p.Val32956=)
c.98863G= (p.Val32955=)
c.98296G= (p.Val32766=)
c.95638G= (p.Val31880=)
c.95557G= (p.Val31853=)
c.77320G= (p.Val25774=)
c.67174G= (p.Val22392=)
2g.178532190C>GCA1985429TTN,TTN-AS1c.96721G>C (p.Val32241Leu)
c.77806G>C (p.Val25936Leu)
c.77605G>C (p.Val25869Leu)
c.77230G>C (p.Val25744Leu)
c.104425G>C (p.Val34809Leu)
c.99502G>C (p.Val33168Leu)
n.446+8554C>G
n.220-3542C>G
c.103522G>C (p.Val34508Leu)
c.77416G>C (p.Val25806Leu)
c.77275G>C (p.Val25759Leu)
c.103318G>C (p.Val34440Leu)
c.98716G>C (p.Val32906Leu)
c.98713G>C (p.Val32905Leu)
c.95755G>C (p.Val31919Leu)
c.77371G>C (p.Val25791Leu)
c.98866G>C (p.Val32956Leu)
c.98863G>C (p.Val32955Leu)
c.98296G>C (p.Val32766Leu)
c.95638G>C (p.Val31880Leu)
c.95557G>C (p.Val31853Leu)
c.77320G>C (p.Val25774Leu)
c.67174G>C (p.Val22392Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532190C>TCA1985428TTN,TTN-AS1c.96721G>A (p.Val32241Met)
c.77806G>A (p.Val25936Met)
c.77605G>A (p.Val25869Met)
c.77230G>A (p.Val25744Met)
c.104425G>A (p.Val34809Met)
c.99502G>A (p.Val33168Met)
n.446+8554C>T
n.220-3542C>T
c.103522G>A (p.Val34508Met)
c.77416G>A (p.Val25806Met)
c.77275G>A (p.Val25759Met)
c.103318G>A (p.Val34440Met)
c.98716G>A (p.Val32906Met)
c.98713G>A (p.Val32905Met)
c.95755G>A (p.Val31919Met)
c.77371G>A (p.Val25791Met)
c.98866G>A (p.Val32956Met)
c.98863G>A (p.Val32955Met)
c.98296G>A (p.Val32766Met)
c.95638G>A (p.Val31880Met)
c.95557G>A (p.Val31853Met)
c.77320G>A (p.Val25774Met)
c.67174G>A (p.Val22392Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178532193_178532197delCA1310518117TTN,TTN-AS1c.96717_96721del (p.Arg32239SerfsTer8)
c.77802_77806del (p.Arg25934SerfsTer8)
c.77601_77605del (p.Arg25867SerfsTer8)
c.77226_77230del (p.Arg25742SerfsTer8)
c.104421_104425del (p.Arg34807SerfsTer8)
c.99498_99502del (p.Arg33166SerfsTer8)
n.446+8557_446+8561del
n.220-3539_220-3535del
c.103518_103522del (p.Arg34506SerfsTer8)
c.77412_77416del (p.Arg25804SerfsTer8)
c.77271_77275del (p.Arg25757SerfsTer8)
c.103314_103318del (p.Arg34438SerfsTer8)
c.98712_98716del (p.Arg32904SerfsTer8)
c.98709_98713del (p.Arg32903SerfsTer8)
c.95751_95755del (p.Arg31917SerfsTer8)
c.77367_77371del (p.Arg25789SerfsTer8)
c.98862_98866del (p.Arg32954SerfsTer8)
c.98859_98863del (p.Arg32953SerfsTer8)
c.98292_98296del (p.Arg32764SerfsTer8)
c.95634_95638del (p.Arg31878SerfsTer8)
c.95553_95557del (p.Arg31851SerfsTer8)
c.77316_77320del (p.Arg25772SerfsTer8)
c.67170_67174del (p.Arg22390SerfsTer8)
 ClinVar dbSNP
2g.178532191T>ACA349411761TTN,TTN-AS1c.96720A>T (p.Glu32240Asp)
c.77805A>T (p.Glu25935Asp)
c.77604A>T (p.Glu25868Asp)
c.77229A>T (p.Glu25743Asp)
c.104424A>T (p.Glu34808Asp)
c.99501A>T (p.Glu33167Asp)
n.446+8555T>A
n.220-3541T>A
c.103521A>T (p.Glu34507Asp)
c.77415A>T (p.Glu25805Asp)
c.77274A>T (p.Glu25758Asp)
c.103317A>T (p.Glu34439Asp)
c.98715A>T (p.Glu32905Asp)
c.98712A>T (p.Glu32904Asp)
c.95754A>T (p.Glu31918Asp)
c.77370A>T (p.Glu25790Asp)
c.98865A>T (p.Glu32955Asp)
c.98862A>T (p.Glu32954Asp)
c.98295A>T (p.Glu32765Asp)
c.95637A>T (p.Glu31879Asp)
c.95556A>T (p.Glu31852Asp)
c.77319A>T (p.Glu25773Asp)
c.67173A>T (p.Glu22391Asp)
2g.178532191T>CCA430235920TTN,TTN-AS1c.96720A>G (p.Glu32240=)
c.77805A>G (p.Glu25935=)
c.77604A>G (p.Glu25868=)
c.77229A>G (p.Glu25743=)
c.104424A>G (p.Glu34808=)
c.99501A>G (p.Glu33167=)
n.446+8555T>C
n.220-3541T>C
c.103521A>G (p.Glu34507=)
c.77415A>G (p.Glu25805=)
c.77274A>G (p.Glu25758=)
c.103317A>G (p.Glu34439=)
c.98715A>G (p.Glu32905=)
c.98712A>G (p.Glu32904=)
c.95754A>G (p.Glu31918=)
c.77370A>G (p.Glu25790=)
c.98865A>G (p.Glu32955=)
c.98862A>G (p.Glu32954=)
c.98295A>G (p.Glu32765=)
c.95637A>G (p.Glu31879=)
c.95556A>G (p.Glu31852=)
c.77319A>G (p.Glu25773=)
c.67173A>G (p.Glu22391=)
2g.178532191T>GCA349411762TTN,TTN-AS1c.96720A>C (p.Glu32240Asp)
c.77805A>C (p.Glu25935Asp)
c.77604A>C (p.Glu25868Asp)
c.77229A>C (p.Glu25743Asp)
c.104424A>C (p.Glu34808Asp)
c.99501A>C (p.Glu33167Asp)
n.446+8555T>G
n.220-3541T>G
c.103521A>C (p.Glu34507Asp)
c.77415A>C (p.Glu25805Asp)
c.77274A>C (p.Glu25758Asp)
c.103317A>C (p.Glu34439Asp)
c.98715A>C (p.Glu32905Asp)
c.98712A>C (p.Glu32904Asp)
c.95754A>C (p.Glu31918Asp)
c.77370A>C (p.Glu25790Asp)
c.98865A>C (p.Glu32955Asp)
c.98862A>C (p.Glu32954Asp)
c.98295A>C (p.Glu32765Asp)
c.95637A>C (p.Glu31879Asp)
c.95556A>C (p.Glu31852Asp)
c.77319A>C (p.Glu25773Asp)
c.67173A>C (p.Glu22391Asp)
2g.178532192T>ACA349411765TTN,TTN-AS1c.96719A>T (p.Glu32240Val)
c.77804A>T (p.Glu25935Val)
c.77603A>T (p.Glu25868Val)
c.77228A>T (p.Glu25743Val)
c.104423A>T (p.Glu34808Val)
c.99500A>T (p.Glu33167Val)
n.446+8556T>A
n.220-3540T>A
c.103520A>T (p.Glu34507Val)
c.77414A>T (p.Glu25805Val)
c.77273A>T (p.Glu25758Val)
c.103316A>T (p.Glu34439Val)
c.98714A>T (p.Glu32905Val)
c.98711A>T (p.Glu32904Val)
c.95753A>T (p.Glu31918Val)
c.77369A>T (p.Glu25790Val)
c.98864A>T (p.Glu32955Val)
c.98861A>T (p.Glu32954Val)
c.98294A>T (p.Glu32765Val)
c.95636A>T (p.Glu31879Val)
c.95555A>T (p.Glu31852Val)
c.77318A>T (p.Glu25773Val)
c.67172A>T (p.Glu22391Val)
2g.178532192T>CCA349411764TTN,TTN-AS1c.96719A>G (p.Glu32240Gly)
c.77804A>G (p.Glu25935Gly)
c.77603A>G (p.Glu25868Gly)
c.77228A>G (p.Glu25743Gly)
c.104423A>G (p.Glu34808Gly)
c.99500A>G (p.Glu33167Gly)
n.446+8556T>C
n.220-3540T>C
c.103520A>G (p.Glu34507Gly)
c.77414A>G (p.Glu25805Gly)
c.77273A>G (p.Glu25758Gly)
c.103316A>G (p.Glu34439Gly)
c.98714A>G (p.Glu32905Gly)
c.98711A>G (p.Glu32904Gly)
c.95753A>G (p.Glu31918Gly)
c.77369A>G (p.Glu25790Gly)
c.98864A>G (p.Glu32955Gly)
c.98861A>G (p.Glu32954Gly)
c.98294A>G (p.Glu32765Gly)
c.95636A>G (p.Glu31879Gly)
c.95555A>G (p.Glu31852Gly)
c.77318A>G (p.Glu25773Gly)
c.67172A>G (p.Glu22391Gly)
2g.178532192T>GCA349411763TTN,TTN-AS1c.96719A>C (p.Glu32240Ala)
c.77804A>C (p.Glu25935Ala)
c.77603A>C (p.Glu25868Ala)
c.77228A>C (p.Glu25743Ala)
c.104423A>C (p.Glu34808Ala)
c.99500A>C (p.Glu33167Ala)
n.446+8556T>G
n.220-3540T>G
c.103520A>C (p.Glu34507Ala)
c.77414A>C (p.Glu25805Ala)
c.77273A>C (p.Glu25758Ala)
c.103316A>C (p.Glu34439Ala)
c.98714A>C (p.Glu32905Ala)
c.98711A>C (p.Glu32904Ala)
c.95753A>C (p.Glu31918Ala)
c.77369A>C (p.Glu25790Ala)
c.98864A>C (p.Glu32955Ala)
c.98861A>C (p.Glu32954Ala)
c.98294A>C (p.Glu32765Ala)
c.95636A>C (p.Glu31879Ala)
c.95555A>C (p.Glu31852Ala)
c.77318A>C (p.Glu25773Ala)
c.67172A>C (p.Glu22391Ala)
2g.178532193C>ACA349411766TTN,TTN-AS1c.96718G>T (p.Glu32240Ter)
c.77803G>T (p.Glu25935Ter)
c.77602G>T (p.Glu25868Ter)
c.77227G>T (p.Glu25743Ter)
c.104422G>T (p.Glu34808Ter)
c.99499G>T (p.Glu33167Ter)
n.446+8557C>A
n.220-3539C>A
c.103519G>T (p.Glu34507Ter)
c.77413G>T (p.Glu25805Ter)
c.77272G>T (p.Glu25758Ter)
c.103315G>T (p.Glu34439Ter)
c.98713G>T (p.Glu32905Ter)
c.98710G>T (p.Glu32904Ter)
c.95752G>T (p.Glu31918Ter)
c.77368G>T (p.Glu25790Ter)
c.98863G>T (p.Glu32955Ter)
c.98860G>T (p.Glu32954Ter)
c.98293G>T (p.Glu32765Ter)
c.95635G>T (p.Glu31879Ter)
c.95554G>T (p.Glu31852Ter)
c.77317G>T (p.Glu25773Ter)
c.67171G>T (p.Glu22391Ter)
2g.178532193C=CA1310518118TTN,TTN-AS1c.96718G= (p.Glu32240=)
c.77803G= (p.Glu25935=)
c.77602G= (p.Glu25868=)
c.77227G= (p.Glu25743=)
c.104422G= (p.Glu34808=)
c.99499G= (p.Glu33167=)
n.446+8557C=
n.220-3539C=
c.103519G= (p.Glu34507=)
c.77413G= (p.Glu25805=)
c.77272G= (p.Glu25758=)
c.103315G= (p.Glu34439=)
c.98713G= (p.Glu32905=)
c.98710G= (p.Glu32904=)
c.95752G= (p.Glu31918=)
c.77368G= (p.Glu25790=)
c.98863G= (p.Glu32955=)
c.98860G= (p.Glu32954=)
c.98293G= (p.Glu32765=)
c.95635G= (p.Glu31879=)
c.95554G= (p.Glu31852=)
c.77317G= (p.Glu25773=)
c.67171G= (p.Glu22391=)
2g.178532193C>GCA349411767TTN,TTN-AS1c.96718G>C (p.Glu32240Gln)
c.77803G>C (p.Glu25935Gln)
c.77602G>C (p.Glu25868Gln)
c.77227G>C (p.Glu25743Gln)
c.104422G>C (p.Glu34808Gln)
c.99499G>C (p.Glu33167Gln)
n.446+8557C>G
n.220-3539C>G
c.103519G>C (p.Glu34507Gln)
c.77413G>C (p.Glu25805Gln)
c.77272G>C (p.Glu25758Gln)
c.103315G>C (p.Glu34439Gln)
c.98713G>C (p.Glu32905Gln)
c.98710G>C (p.Glu32904Gln)
c.95752G>C (p.Glu31918Gln)
c.77368G>C (p.Glu25790Gln)
c.98863G>C (p.Glu32955Gln)
c.98860G>C (p.Glu32954Gln)
c.98293G>C (p.Glu32765Gln)
c.95635G>C (p.Glu31879Gln)
c.95554G>C (p.Glu31852Gln)
c.77317G>C (p.Glu25773Gln)
c.67171G>C (p.Glu22391Gln)
 COSMIC COSMIC COSMIC
2g.178532193C>TCA349411768TTN,TTN-AS1c.96718G>A (p.Glu32240Lys)
c.77803G>A (p.Glu25935Lys)
c.77602G>A (p.Glu25868Lys)
c.77227G>A (p.Glu25743Lys)
c.104422G>A (p.Glu34808Lys)
c.99499G>A (p.Glu33167Lys)
n.446+8557C>T
n.220-3539C>T
c.103519G>A (p.Glu34507Lys)
c.77413G>A (p.Glu25805Lys)
c.77272G>A (p.Glu25758Lys)
c.103315G>A (p.Glu34439Lys)
c.98713G>A (p.Glu32905Lys)
c.98710G>A (p.Glu32904Lys)
c.95752G>A (p.Glu31918Lys)
c.77368G>A (p.Glu25790Lys)
c.98863G>A (p.Glu32955Lys)
c.98860G>A (p.Glu32954Lys)
c.98293G>A (p.Glu32765Lys)
c.95635G>A (p.Glu31879Lys)
c.95554G>A (p.Glu31852Lys)
c.77317G>A (p.Glu25773Lys)
c.67171G>A (p.Glu22391Lys)
 ClinVar dbSNP
2g.178532194T>ACA349411769TTN,TTN-AS1c.96717A>T (p.Arg32239Ser)
c.77802A>T (p.Arg25934Ser)
c.77601A>T (p.Arg25867Ser)
c.77226A>T (p.Arg25742Ser)
c.104421A>T (p.Arg34807Ser)
c.99498A>T (p.Arg33166Ser)
n.446+8558T>A
n.220-3538T>A
c.103518A>T (p.Arg34506Ser)
c.77412A>T (p.Arg25804Ser)
c.77271A>T (p.Arg25757Ser)
c.103314A>T (p.Arg34438Ser)
c.98712A>T (p.Arg32904Ser)
c.98709A>T (p.Arg32903Ser)
c.95751A>T (p.Arg31917Ser)
c.77367A>T (p.Arg25789Ser)
c.98862A>T (p.Arg32954Ser)
c.98859A>T (p.Arg32953Ser)
c.98292A>T (p.Arg32764Ser)
c.95634A>T (p.Arg31878Ser)
c.95553A>T (p.Arg31851Ser)
c.77316A>T (p.Arg25772Ser)
c.67170A>T (p.Arg22390Ser)
2g.178532194T>CCA430235921TTN,TTN-AS1c.96717A>G (p.Arg32239=)
c.77802A>G (p.Arg25934=)
c.77601A>G (p.Arg25867=)
c.77226A>G (p.Arg25742=)
c.104421A>G (p.Arg34807=)
c.99498A>G (p.Arg33166=)
n.446+8558T>C
n.220-3538T>C
c.103518A>G (p.Arg34506=)
c.77412A>G (p.Arg25804=)
c.77271A>G (p.Arg25757=)
c.103314A>G (p.Arg34438=)
c.98712A>G (p.Arg32904=)
c.98709A>G (p.Arg32903=)
c.95751A>G (p.Arg31917=)
c.77367A>G (p.Arg25789=)
c.98862A>G (p.Arg32954=)
c.98859A>G (p.Arg32953=)
c.98292A>G (p.Arg32764=)
c.95634A>G (p.Arg31878=)
c.95553A>G (p.Arg31851=)
c.77316A>G (p.Arg25772=)
c.67170A>G (p.Arg22390=)
2g.178532194T>GCA349411770TTN,TTN-AS1c.96717A>C (p.Arg32239Ser)
c.77802A>C (p.Arg25934Ser)
c.77601A>C (p.Arg25867Ser)
c.77226A>C (p.Arg25742Ser)
c.104421A>C (p.Arg34807Ser)
c.99498A>C (p.Arg33166Ser)
n.446+8558T>G
n.220-3538T>G
c.103518A>C (p.Arg34506Ser)
c.77412A>C (p.Arg25804Ser)
c.77271A>C (p.Arg25757Ser)
c.103314A>C (p.Arg34438Ser)
c.98712A>C (p.Arg32904Ser)
c.98709A>C (p.Arg32903Ser)
c.95751A>C (p.Arg31917Ser)
c.77367A>C (p.Arg25789Ser)
c.98862A>C (p.Arg32954Ser)
c.98859A>C (p.Arg32953Ser)
c.98292A>C (p.Arg32764Ser)
c.95634A>C (p.Arg31878Ser)
c.95553A>C (p.Arg31851Ser)
c.77316A>C (p.Arg25772Ser)
c.67170A>C (p.Arg22390Ser)
 ClinVar dbSNP
2g.178532195C>ACA349411772TTN,TTN-AS1c.96716G>T (p.Arg32239Ile)
c.77801G>T (p.Arg25934Ile)
c.77600G>T (p.Arg25867Ile)
c.77225G>T (p.Arg25742Ile)
c.104420G>T (p.Arg34807Ile)
c.99497G>T (p.Arg33166Ile)
n.446+8559C>A
n.220-3537C>A
c.103517G>T (p.Arg34506Ile)
c.77411G>T (p.Arg25804Ile)
c.77270G>T (p.Arg25757Ile)
c.103313G>T (p.Arg34438Ile)
c.98711G>T (p.Arg32904Ile)
c.98708G>T (p.Arg32903Ile)
c.95750G>T (p.Arg31917Ile)
c.77366G>T (p.Arg25789Ile)
c.98861G>T (p.Arg32954Ile)
c.98858G>T (p.Arg32953Ile)
c.98291G>T (p.Arg32764Ile)
c.95633G>T (p.Arg31878Ile)
c.95552G>T (p.Arg31851Ile)
c.77315G>T (p.Arg25772Ile)
c.67169G>T (p.Arg22390Ile)
2g.178532195C=CA1310518119TTN,TTN-AS1c.96716G= (p.Arg32239=)
c.77801G= (p.Arg25934=)
c.77600G= (p.Arg25867=)
c.77225G= (p.Arg25742=)
c.104420G= (p.Arg34807=)
c.99497G= (p.Arg33166=)
n.446+8559C=
n.220-3537C=
c.103517G= (p.Arg34506=)
c.77411G= (p.Arg25804=)
c.77270G= (p.Arg25757=)
c.103313G= (p.Arg34438=)
c.98711G= (p.Arg32904=)
c.98708G= (p.Arg32903=)
c.95750G= (p.Arg31917=)
c.77366G= (p.Arg25789=)
c.98861G= (p.Arg32954=)
c.98858G= (p.Arg32953=)
c.98291G= (p.Arg32764=)
c.95633G= (p.Arg31878=)
c.95552G= (p.Arg31851=)
c.77315G= (p.Arg25772=)
c.67169G= (p.Arg22390=)
2g.178532195C>GCA60956233TTN,TTN-AS1c.96716G>C (p.Arg32239Thr)
c.77801G>C (p.Arg25934Thr)
c.77600G>C (p.Arg25867Thr)
c.77225G>C (p.Arg25742Thr)
c.104420G>C (p.Arg34807Thr)
c.99497G>C (p.Arg33166Thr)
n.446+8559C>G
n.220-3537C>G
c.103517G>C (p.Arg34506Thr)
c.77411G>C (p.Arg25804Thr)
c.77270G>C (p.Arg25757Thr)
c.103313G>C (p.Arg34438Thr)
c.98711G>C (p.Arg32904Thr)
c.98708G>C (p.Arg32903Thr)
c.95750G>C (p.Arg31917Thr)
c.77366G>C (p.Arg25789Thr)
c.98861G>C (p.Arg32954Thr)
c.98858G>C (p.Arg32953Thr)
c.98291G>C (p.Arg32764Thr)
c.95633G>C (p.Arg31878Thr)
c.95552G>C (p.Arg31851Thr)
c.77315G>C (p.Arg25772Thr)
c.67169G>C (p.Arg22390Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.178532195C>TCA349411773TTN,TTN-AS1c.96716G>A (p.Arg32239Lys)
c.77801G>A (p.Arg25934Lys)
c.77600G>A (p.Arg25867Lys)
c.77225G>A (p.Arg25742Lys)
c.104420G>A (p.Arg34807Lys)
c.99497G>A (p.Arg33166Lys)
n.446+8559C>T
n.220-3537C>T
c.103517G>A (p.Arg34506Lys)
c.77411G>A (p.Arg25804Lys)
c.77270G>A (p.Arg25757Lys)
c.103313G>A (p.Arg34438Lys)
c.98711G>A (p.Arg32904Lys)
c.98708G>A (p.Arg32903Lys)
c.95750G>A (p.Arg31917Lys)
c.77366G>A (p.Arg25789Lys)
c.98861G>A (p.Arg32954Lys)
c.98858G>A (p.Arg32953Lys)
c.98291G>A (p.Arg32764Lys)
c.95633G>A (p.Arg31878Lys)
c.95552G>A (p.Arg31851Lys)
c.77315G>A (p.Arg25772Lys)
c.67169G>A (p.Arg22390Lys)
 ClinVar dbSNP gnomAD v4
2g.178532195_178532197delinsCTTCA1310518120TTN,TTN-AS1c.96714_96716delinsAAG (p.Gln32238=)
c.77799_77801delinsAAG (p.Gln25933=)
c.77598_77600delinsAAG (p.Gln25866=)
c.77223_77225delinsAAG (p.Gln25741=)
c.104418_104420delinsAAG (p.Gln34806=)
c.99495_99497delinsAAG (p.Gln33165=)
n.446+8559_446+8561delinsCTT
n.220-3537_220-3535delinsCTT
c.103515_103517delinsAAG (p.Gln34505=)
c.77409_77411delinsAAG (p.Gln25803=)
c.77268_77270delinsAAG (p.Gln25756=)
c.103311_103313delinsAAG (p.Gln34437=)
c.98709_98711delinsAAG (p.Gln32903=)
c.98706_98708delinsAAG (p.Gln32902=)
c.95748_95750delinsAAG (p.Gln31916=)
c.77364_77366delinsAAG (p.Gln25788=)
c.98859_98861delinsAAG (p.Gln32953=)
c.98856_98858delinsAAG (p.Gln32952=)
c.98289_98291delinsAAG (p.Gln32763=)
c.95631_95633delinsAAG (p.Gln31877=)
c.95550_95552delinsAAG (p.Gln31850=)
c.77313_77315delinsAAG (p.Gln25771=)
c.67167_67169delinsAAG (p.Gln22389=)
2g.178532196T>ACA349411774TTN,TTN-AS1c.96715A>T (p.Arg32239Ter)
c.77800A>T (p.Arg25934Ter)
c.77599A>T (p.Arg25867Ter)
c.77224A>T (p.Arg25742Ter)
c.104419A>T (p.Arg34807Ter)
c.99496A>T (p.Arg33166Ter)
n.446+8560T>A
n.220-3536T>A
c.103516A>T (p.Arg34506Ter)
c.77410A>T (p.Arg25804Ter)
c.77269A>T (p.Arg25757Ter)
c.103312A>T (p.Arg34438Ter)
c.98710A>T (p.Arg32904Ter)
c.98707A>T (p.Arg32903Ter)
c.95749A>T (p.Arg31917Ter)
c.77365A>T (p.Arg25789Ter)
c.98860A>T (p.Arg32954Ter)
c.98857A>T (p.Arg32953Ter)
c.98290A>T (p.Arg32764Ter)
c.95632A>T (p.Arg31878Ter)
c.95551A>T (p.Arg31851Ter)
c.77314A>T (p.Arg25772Ter)
c.67168A>T (p.Arg22390Ter)
2g.178532196T>CCA349411775TTN,TTN-AS1c.96715A>G (p.Arg32239Gly)
c.77800A>G (p.Arg25934Gly)
c.77599A>G (p.Arg25867Gly)
c.77224A>G (p.Arg25742Gly)
c.104419A>G (p.Arg34807Gly)
c.99496A>G (p.Arg33166Gly)
n.446+8560T>C
n.220-3536T>C
c.103516A>G (p.Arg34506Gly)
c.77410A>G (p.Arg25804Gly)
c.77269A>G (p.Arg25757Gly)
c.103312A>G (p.Arg34438Gly)
c.98710A>G (p.Arg32904Gly)
c.98707A>G (p.Arg32903Gly)
c.95749A>G (p.Arg31917Gly)
c.77365A>G (p.Arg25789Gly)
c.98860A>G (p.Arg32954Gly)
c.98857A>G (p.Arg32953Gly)
c.98290A>G (p.Arg32764Gly)
c.95632A>G (p.Arg31878Gly)
c.95551A>G (p.Arg31851Gly)
c.77314A>G (p.Arg25772Gly)
c.67168A>G (p.Arg22390Gly)
2g.178532196T>GCA430235922TTN,TTN-AS1c.96715A>C (p.Arg32239=)
c.77800A>C (p.Arg25934=)
c.77599A>C (p.Arg25867=)
c.77224A>C (p.Arg25742=)
c.104419A>C (p.Arg34807=)
c.99496A>C (p.Arg33166=)
n.446+8560T>G
n.220-3536T>G
c.103516A>C (p.Arg34506=)
c.77410A>C (p.Arg25804=)
c.77269A>C (p.Arg25757=)
c.103312A>C (p.Arg34438=)
c.98710A>C (p.Arg32904=)
c.98707A>C (p.Arg32903=)
c.95749A>C (p.Arg31917=)
c.77365A>C (p.Arg25789=)
c.98860A>C (p.Arg32954=)
c.98857A>C (p.Arg32953=)
c.98290A>C (p.Arg32764=)
c.95632A>C (p.Arg31878=)
c.95551A>C (p.Arg31851=)
c.77314A>C (p.Arg25772=)
c.67168A>C (p.Arg22390=)
2g.178532197_178532198delCA538434979TTN,TTN-AS1c.96714_96715del (p.Glu32240SerfsTer8)
c.77799_77800del (p.Glu25935SerfsTer8)
c.77598_77599del (p.Glu25868SerfsTer8)
c.77223_77224del (p.Glu25743SerfsTer8)
c.104418_104419del (p.Glu34808SerfsTer8)
c.99495_99496del (p.Glu33167SerfsTer8)
n.446+8561_446+8562del
n.220-3535_220-3534del
c.103515_103516del (p.Glu34507SerfsTer8)
c.77409_77410del (p.Glu25805SerfsTer8)
c.77268_77269del (p.Glu25758SerfsTer8)
c.103311_103312del (p.Glu34439SerfsTer8)
c.98709_98710del (p.Glu32905SerfsTer8)
c.98706_98707del (p.Glu32904SerfsTer8)
c.95748_95749del (p.Glu31918SerfsTer8)
c.77364_77365del (p.Glu25790SerfsTer8)
c.98859_98860del (p.Glu32955SerfsTer8)
c.98856_98857del (p.Glu32954SerfsTer8)
c.98289_98290del (p.Glu32765SerfsTer8)
c.95631_95632del (p.Glu31879SerfsTer8)
c.95550_95551del (p.Glu31852SerfsTer8)
c.77313_77314del (p.Glu25773SerfsTer8)
c.67167_67168del (p.Glu22391SerfsTer8)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178532197T>ACA349411776TTN,TTN-AS1c.96714A>T (p.Gln32238His)
c.77799A>T (p.Gln25933His)
c.77598A>T (p.Gln25866His)
c.77223A>T (p.Gln25741His)
c.104418A>T (p.Gln34806His)
c.99495A>T (p.Gln33165His)
n.446+8561T>A
n.220-3535T>A
c.103515A>T (p.Gln34505His)
c.77409A>T (p.Gln25803His)
c.77268A>T (p.Gln25756His)
c.103311A>T (p.Gln34437His)
c.98709A>T (p.Gln32903His)
c.98706A>T (p.Gln32902His)
c.95748A>T (p.Gln31916His)
c.77364A>T (p.Gln25788His)
c.98859A>T (p.Gln32953His)
c.98856A>T (p.Gln32952His)
c.98289A>T (p.Gln32763His)
c.95631A>T (p.Gln31877His)
c.95550A>T (p.Gln31850His)
c.77313A>T (p.Gln25771His)
c.67167A>T (p.Gln22389His)
2g.178532197T>CCA430235923TTN,TTN-AS1c.96714A>G (p.Gln32238=)
c.77799A>G (p.Gln25933=)
c.77598A>G (p.Gln25866=)
c.77223A>G (p.Gln25741=)
c.104418A>G (p.Gln34806=)
c.99495A>G (p.Gln33165=)
n.446+8561T>C
n.220-3535T>C
c.103515A>G (p.Gln34505=)
c.77409A>G (p.Gln25803=)
c.77268A>G (p.Gln25756=)
c.103311A>G (p.Gln34437=)
c.98709A>G (p.Gln32903=)
c.98706A>G (p.Gln32902=)
c.95748A>G (p.Gln31916=)
c.77364A>G (p.Gln25788=)
c.98859A>G (p.Gln32953=)
c.98856A>G (p.Gln32952=)
c.98289A>G (p.Gln32763=)
c.95631A>G (p.Gln31877=)
c.95550A>G (p.Gln31850=)
c.77313A>G (p.Gln25771=)
c.67167A>G (p.Gln22389=)
2g.178532197T>GCA349411777TTN,TTN-AS1c.96714A>C (p.Gln32238His)
c.77799A>C (p.Gln25933His)
c.77598A>C (p.Gln25866His)
c.77223A>C (p.Gln25741His)
c.104418A>C (p.Gln34806His)
c.99495A>C (p.Gln33165His)
n.446+8561T>G
n.220-3535T>G
c.103515A>C (p.Gln34505His)
c.77409A>C (p.Gln25803His)
c.77268A>C (p.Gln25756His)
c.103311A>C (p.Gln34437His)
c.98709A>C (p.Gln32903His)
c.98706A>C (p.Gln32902His)
c.95748A>C (p.Gln31916His)
c.77364A>C (p.Gln25788His)
c.98859A>C (p.Gln32953His)
c.98856A>C (p.Gln32952His)
c.98289A>C (p.Gln32763His)
c.95631A>C (p.Gln31877His)
c.95550A>C (p.Gln31850His)
c.77313A>C (p.Gln25771His)
c.67167A>C (p.Gln22389His)
2g.178532198T>ACA349411778TTN,TTN-AS1c.96713A>T (p.Gln32238Leu)
c.77798A>T (p.Gln25933Leu)
c.77597A>T (p.Gln25866Leu)
c.77222A>T (p.Gln25741Leu)
c.104417A>T (p.Gln34806Leu)
c.99494A>T (p.Gln33165Leu)
n.446+8562T>A
n.220-3534T>A
c.103514A>T (p.Gln34505Leu)
c.77408A>T (p.Gln25803Leu)
c.77267A>T (p.Gln25756Leu)
c.103310A>T (p.Gln34437Leu)
c.98708A>T (p.Gln32903Leu)
c.98705A>T (p.Gln32902Leu)
c.95747A>T (p.Gln31916Leu)
c.77363A>T (p.Gln25788Leu)
c.98858A>T (p.Gln32953Leu)
c.98855A>T (p.Gln32952Leu)
c.98288A>T (p.Gln32763Leu)
c.95630A>T (p.Gln31877Leu)
c.95549A>T (p.Gln31850Leu)
c.77312A>T (p.Gln25771Leu)
c.67166A>T (p.Gln22389Leu)
2g.178532198T>CCA349411779TTN,TTN-AS1c.96713A>G (p.Gln32238Arg)
c.77798A>G (p.Gln25933Arg)
c.77597A>G (p.Gln25866Arg)
c.77222A>G (p.Gln25741Arg)
c.104417A>G (p.Gln34806Arg)
c.99494A>G (p.Gln33165Arg)
n.446+8562T>C
n.220-3534T>C
c.103514A>G (p.Gln34505Arg)
c.77408A>G (p.Gln25803Arg)
c.77267A>G (p.Gln25756Arg)
c.103310A>G (p.Gln34437Arg)
c.98708A>G (p.Gln32903Arg)
c.98705A>G (p.Gln32902Arg)
c.95747A>G (p.Gln31916Arg)
c.77363A>G (p.Gln25788Arg)
c.98858A>G (p.Gln32953Arg)
c.98855A>G (p.Gln32952Arg)
c.98288A>G (p.Gln32763Arg)
c.95630A>G (p.Gln31877Arg)
c.95549A>G (p.Gln31850Arg)
c.77312A>G (p.Gln25771Arg)
c.67166A>G (p.Gln22389Arg)
2g.178532198T>GCA349411780TTN,TTN-AS1c.96713A>C (p.Gln32238Pro)
c.77798A>C (p.Gln25933Pro)
c.77597A>C (p.Gln25866Pro)
c.77222A>C (p.Gln25741Pro)
c.104417A>C (p.Gln34806Pro)
c.99494A>C (p.Gln33165Pro)
n.446+8562T>G
n.220-3534T>G
c.103514A>C (p.Gln34505Pro)
c.77408A>C (p.Gln25803Pro)
c.77267A>C (p.Gln25756Pro)
c.103310A>C (p.Gln34437Pro)
c.98708A>C (p.Gln32903Pro)
c.98705A>C (p.Gln32902Pro)
c.95747A>C (p.Gln31916Pro)
c.77363A>C (p.Gln25788Pro)
c.98858A>C (p.Gln32953Pro)
c.98855A>C (p.Gln32952Pro)
c.98288A>C (p.Gln32763Pro)
c.95630A>C (p.Gln31877Pro)
c.95549A>C (p.Gln31850Pro)
c.77312A>C (p.Gln25771Pro)
c.67166A>C (p.Gln22389Pro)
 ClinVar dbSNP
2g.178532198T=CA1310518121TTN,TTN-AS1c.96713A= (p.Gln32238=)
c.77798A= (p.Gln25933=)
c.77597A= (p.Gln25866=)
c.77222A= (p.Gln25741=)
c.104417A= (p.Gln34806=)
c.99494A= (p.Gln33165=)
n.446+8562T=
n.220-3534T=
c.103514A= (p.Gln34505=)
c.77408A= (p.Gln25803=)
c.77267A= (p.Gln25756=)
c.103310A= (p.Gln34437=)
c.98708A= (p.Gln32903=)
c.98705A= (p.Gln32902=)
c.95747A= (p.Gln31916=)
c.77363A= (p.Gln25788=)
c.98858A= (p.Gln32953=)
c.98855A= (p.Gln32952=)
c.98288A= (p.Gln32763=)
c.95630A= (p.Gln31877=)
c.95549A= (p.Gln31850=)
c.77312A= (p.Gln25771=)
c.67166A= (p.Gln22389=)
2g.178532199G>ACA349411781TTN,TTN-AS1c.96712C>T (p.Gln32238Ter)
c.77797C>T (p.Gln25933Ter)
c.77596C>T (p.Gln25866Ter)
c.77221C>T (p.Gln25741Ter)
c.104416C>T (p.Gln34806Ter)
c.99493C>T (p.Gln33165Ter)
n.446+8563G>A
n.220-3533G>A
c.103513C>T (p.Gln34505Ter)
c.77407C>T (p.Gln25803Ter)
c.77266C>T (p.Gln25756Ter)
c.103309C>T (p.Gln34437Ter)
c.98707C>T (p.Gln32903Ter)
c.98704C>T (p.Gln32902Ter)
c.95746C>T (p.Gln31916Ter)
c.77362C>T (p.Gln25788Ter)
c.98857C>T (p.Gln32953Ter)
c.98854C>T (p.Gln32952Ter)
c.98287C>T (p.Gln32763Ter)
c.95629C>T (p.Gln31877Ter)
c.95548C>T (p.Gln31850Ter)
c.77311C>T (p.Gln25771Ter)
c.67165C>T (p.Gln22389Ter)
2g.178532199G>CCA349411783TTN,TTN-AS1c.96712C>G (p.Gln32238Glu)
c.77797C>G (p.Gln25933Glu)
c.77596C>G (p.Gln25866Glu)
c.77221C>G (p.Gln25741Glu)
c.104416C>G (p.Gln34806Glu)
c.99493C>G (p.Gln33165Glu)
n.446+8563G>C
n.220-3533G>C
c.103513C>G (p.Gln34505Glu)
c.77407C>G (p.Gln25803Glu)
c.77266C>G (p.Gln25756Glu)
c.103309C>G (p.Gln34437Glu)
c.98707C>G (p.Gln32903Glu)
c.98704C>G (p.Gln32902Glu)
c.95746C>G (p.Gln31916Glu)
c.77362C>G (p.Gln25788Glu)
c.98857C>G (p.Gln32953Glu)
c.98854C>G (p.Gln32952Glu)
c.98287C>G (p.Gln32763Glu)
c.95629C>G (p.Gln31877Glu)
c.95548C>G (p.Gln31850Glu)
c.77311C>G (p.Gln25771Glu)
c.67165C>G (p.Gln22389Glu)
2g.178532199G>TCA349411782TTN,TTN-AS1c.96712C>A (p.Gln32238Lys)
c.77797C>A (p.Gln25933Lys)
c.77596C>A (p.Gln25866Lys)
c.77221C>A (p.Gln25741Lys)
c.104416C>A (p.Gln34806Lys)
c.99493C>A (p.Gln33165Lys)
n.446+8563G>T
n.220-3533G>T
c.103513C>A (p.Gln34505Lys)
c.77407C>A (p.Gln25803Lys)
c.77266C>A (p.Gln25756Lys)
c.103309C>A (p.Gln34437Lys)
c.98707C>A (p.Gln32903Lys)
c.98704C>A (p.Gln32902Lys)
c.95746C>A (p.Gln31916Lys)
c.77362C>A (p.Gln25788Lys)
c.98857C>A (p.Gln32953Lys)
c.98854C>A (p.Gln32952Lys)
c.98287C>A (p.Gln32763Lys)
c.95629C>A (p.Gln31877Lys)
c.95548C>A (p.Gln31850Lys)
c.77311C>A (p.Gln25771Lys)
c.67165C>A (p.Gln22389Lys)
2g.178532200T>ACA430235924TTN,TTN-AS1c.96711A>T (p.Arg32237=)
c.77796A>T (p.Arg25932=)
c.77595A>T (p.Arg25865=)
c.77220A>T (p.Arg25740=)
c.104415A>T (p.Arg34805=)
c.99492A>T (p.Arg33164=)
n.446+8564T>A
n.220-3532T>A
c.103512A>T (p.Arg34504=)
c.77406A>T (p.Arg25802=)
c.77265A>T (p.Arg25755=)
c.103308A>T (p.Arg34436=)
c.98706A>T (p.Arg32902=)
c.98703A>T (p.Arg32901=)
c.95745A>T (p.Arg31915=)
c.77361A>T (p.Arg25787=)
c.98856A>T (p.Arg32952=)
c.98853A>T (p.Arg32951=)
c.98286A>T (p.Arg32762=)
c.95628A>T (p.Arg31876=)
c.95547A>T (p.Arg31849=)
c.77310A>T (p.Arg25770=)
c.67164A>T (p.Arg22388=)
 ClinVar
2g.178532200T>CCA430235925TTN,TTN-AS1c.96711A>G (p.Arg32237=)
c.77796A>G (p.Arg25932=)
c.77595A>G (p.Arg25865=)
c.77220A>G (p.Arg25740=)
c.104415A>G (p.Arg34805=)
c.99492A>G (p.Arg33164=)
n.446+8564T>C
n.220-3532T>C
c.103512A>G (p.Arg34504=)
c.77406A>G (p.Arg25802=)
c.77265A>G (p.Arg25755=)
c.103308A>G (p.Arg34436=)
c.98706A>G (p.Arg32902=)
c.98703A>G (p.Arg32901=)
c.95745A>G (p.Arg31915=)
c.77361A>G (p.Arg25787=)
c.98856A>G (p.Arg32952=)
c.98853A>G (p.Arg32951=)
c.98286A>G (p.Arg32762=)
c.95628A>G (p.Arg31876=)
c.95547A>G (p.Arg31849=)
c.77310A>G (p.Arg25770=)
c.67164A>G (p.Arg22388=)
2g.178532200T>GCA430235926TTN,TTN-AS1c.96711A>C (p.Arg32237=)
c.77796A>C (p.Arg25932=)
c.77595A>C (p.Arg25865=)
c.77220A>C (p.Arg25740=)
c.104415A>C (p.Arg34805=)
c.99492A>C (p.Arg33164=)
n.446+8564T>G
n.220-3532T>G
c.103512A>C (p.Arg34504=)
c.77406A>C (p.Arg25802=)
c.77265A>C (p.Arg25755=)
c.103308A>C (p.Arg34436=)
c.98706A>C (p.Arg32902=)
c.98703A>C (p.Arg32901=)
c.95745A>C (p.Arg31915=)
c.77361A>C (p.Arg25787=)
c.98856A>C (p.Arg32952=)
c.98853A>C (p.Arg32951=)
c.98286A>C (p.Arg32762=)
c.95628A>C (p.Arg31876=)
c.95547A>C (p.Arg31849=)
c.77310A>C (p.Arg25770=)
c.67164A>C (p.Arg22388=)
2g.178532201C>ACA141674TTN,TTN-AS1c.96710G>T (p.Arg32237Leu)
c.77795G>T (p.Arg25932Leu)
c.77594G>T (p.Arg25865Leu)
c.77219G>T (p.Arg25740Leu)
c.104414G>T (p.Arg34805Leu)
c.99491G>T (p.Arg33164Leu)
n.446+8565C>A
n.220-3531C>A
c.103511G>T (p.Arg34504Leu)
c.77405G>T (p.Arg25802Leu)
c.77264G>T (p.Arg25755Leu)
c.103307G>T (p.Arg34436Leu)
c.98705G>T (p.Arg32902Leu)
c.98702G>T (p.Arg32901Leu)
c.95744G>T (p.Arg31915Leu)
c.77360G>T (p.Arg25787Leu)
c.98855G>T (p.Arg32952Leu)
c.98852G>T (p.Arg32951Leu)
c.98285G>T (p.Arg32762Leu)
c.95627G>T (p.Arg31876Leu)
c.95546G>T (p.Arg31849Leu)
c.77309G>T (p.Arg25770Leu)
c.67163G>T (p.Arg22388Leu)
 ClinVar dbSNP gnomAD v4
2g.178532201C=CA1310518122TTN,TTN-AS1c.96710G= (p.Arg32237=)
c.77795G= (p.Arg25932=)
c.77594G= (p.Arg25865=)
c.77219G= (p.Arg25740=)
c.104414G= (p.Arg34805=)
c.99491G= (p.Arg33164=)
n.446+8565C=
n.220-3531C=
c.103511G= (p.Arg34504=)
c.77405G= (p.Arg25802=)
c.77264G= (p.Arg25755=)
c.103307G= (p.Arg34436=)
c.98705G= (p.Arg32902=)
c.98702G= (p.Arg32901=)
c.95744G= (p.Arg31915=)
c.77360G= (p.Arg25787=)
c.98855G= (p.Arg32952=)
c.98852G= (p.Arg32951=)
c.98285G= (p.Arg32762=)
c.95627G= (p.Arg31876=)
c.95546G= (p.Arg31849=)
c.77309G= (p.Arg25770=)
c.67163G= (p.Arg22388=)
2g.178532201C>GCA349411784TTN,TTN-AS1c.96710G>C (p.Arg32237Pro)
c.77795G>C (p.Arg25932Pro)
c.77594G>C (p.Arg25865Pro)
c.77219G>C (p.Arg25740Pro)
c.104414G>C (p.Arg34805Pro)
c.99491G>C (p.Arg33164Pro)
n.446+8565C>G
n.220-3531C>G
c.103511G>C (p.Arg34504Pro)
c.77405G>C (p.Arg25802Pro)
c.77264G>C (p.Arg25755Pro)
c.103307G>C (p.Arg34436Pro)
c.98705G>C (p.Arg32902Pro)
c.98702G>C (p.Arg32901Pro)
c.95744G>C (p.Arg31915Pro)
c.77360G>C (p.Arg25787Pro)
c.98855G>C (p.Arg32952Pro)
c.98852G>C (p.Arg32951Pro)
c.98285G>C (p.Arg32762Pro)
c.95627G>C (p.Arg31876Pro)
c.95546G>C (p.Arg31849Pro)
c.77309G>C (p.Arg25770Pro)
c.67163G>C (p.Arg22388Pro)
 ClinVar dbSNP gnomAD v4
2g.178532201C>TCA311178TTN,TTN-AS1c.96710G>A (p.Arg32237Gln)
c.77795G>A (p.Arg25932Gln)
c.77594G>A (p.Arg25865Gln)
c.77219G>A (p.Arg25740Gln)
c.104414G>A (p.Arg34805Gln)
c.99491G>A (p.Arg33164Gln)
n.446+8565C>T
n.220-3531C>T
c.103511G>A (p.Arg34504Gln)
c.77405G>A (p.Arg25802Gln)
c.77264G>A (p.Arg25755Gln)
c.103307G>A (p.Arg34436Gln)
c.98705G>A (p.Arg32902Gln)
c.98702G>A (p.Arg32901Gln)
c.95744G>A (p.Arg31915Gln)
c.77360G>A (p.Arg25787Gln)
c.98855G>A (p.Arg32952Gln)
c.98852G>A (p.Arg32951Gln)
c.98285G>A (p.Arg32762Gln)
c.95627G>A (p.Arg31876Gln)
c.95546G>A (p.Arg31849Gln)
c.77309G>A (p.Arg25770Gln)
c.67163G>A (p.Arg22388Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532202G>ACA1985430TTN,TTN-AS1c.96709C>T (p.Arg32237Ter)
c.77794C>T (p.Arg25932Ter)
c.77593C>T (p.Arg25865Ter)
c.77218C>T (p.Arg25740Ter)
c.104413C>T (p.Arg34805Ter)
c.99490C>T (p.Arg33164Ter)
n.446+8566G>A
n.220-3530G>A
c.103510C>T (p.Arg34504Ter)
c.77404C>T (p.Arg25802Ter)
c.77263C>T (p.Arg25755Ter)
c.103306C>T (p.Arg34436Ter)
c.98704C>T (p.Arg32902Ter)
c.98701C>T (p.Arg32901Ter)
c.95743C>T (p.Arg31915Ter)
c.77359C>T (p.Arg25787Ter)
c.98854C>T (p.Arg32952Ter)
c.98851C>T (p.Arg32951Ter)
c.98284C>T (p.Arg32762Ter)
c.95626C>T (p.Arg31876Ter)
c.95545C>T (p.Arg31849Ter)
c.77308C>T (p.Arg25770Ter)
c.67162C>T (p.Arg22388Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178532202G>CCA349411785TTN,TTN-AS1c.96709C>G (p.Arg32237Gly)
c.77794C>G (p.Arg25932Gly)
c.77593C>G (p.Arg25865Gly)
c.77218C>G (p.Arg25740Gly)
c.104413C>G (p.Arg34805Gly)
c.99490C>G (p.Arg33164Gly)
n.446+8566G>C
n.220-3530G>C
c.103510C>G (p.Arg34504Gly)
c.77404C>G (p.Arg25802Gly)
c.77263C>G (p.Arg25755Gly)
c.103306C>G (p.Arg34436Gly)
c.98704C>G (p.Arg32902Gly)
c.98701C>G (p.Arg32901Gly)
c.95743C>G (p.Arg31915Gly)
c.77359C>G (p.Arg25787Gly)
c.98854C>G (p.Arg32952Gly)
c.98851C>G (p.Arg32951Gly)
c.98284C>G (p.Arg32762Gly)
c.95626C>G (p.Arg31876Gly)
c.95545C>G (p.Arg31849Gly)
c.77308C>G (p.Arg25770Gly)
c.67162C>G (p.Arg22388Gly)
 ClinVar
2g.178532202G=CA1310518123TTN,TTN-AS1c.96709C= (p.Arg32237=)
c.77794C= (p.Arg25932=)
c.77593C= (p.Arg25865=)
c.77218C= (p.Arg25740=)
c.104413C= (p.Arg34805=)
c.99490C= (p.Arg33164=)
n.446+8566G=
n.220-3530G=
c.103510C= (p.Arg34504=)
c.77404C= (p.Arg25802=)
c.77263C= (p.Arg25755=)
c.103306C= (p.Arg34436=)
c.98704C= (p.Arg32902=)
c.98701C= (p.Arg32901=)
c.95743C= (p.Arg31915=)
c.77359C= (p.Arg25787=)
c.98854C= (p.Arg32952=)
c.98851C= (p.Arg32951=)
c.98284C= (p.Arg32762=)
c.95626C= (p.Arg31876=)
c.95545C= (p.Arg31849=)
c.77308C= (p.Arg25770=)
c.67162C= (p.Arg22388=)
2g.178532202G>TCA430235927TTN,TTN-AS1c.96709C>A (p.Arg32237=)
c.77794C>A (p.Arg25932=)
c.77593C>A (p.Arg25865=)
c.77218C>A (p.Arg25740=)
c.104413C>A (p.Arg34805=)
c.99490C>A (p.Arg33164=)
n.446+8566G>T
n.220-3530G>T
c.103510C>A (p.Arg34504=)
c.77404C>A (p.Arg25802=)
c.77263C>A (p.Arg25755=)
c.103306C>A (p.Arg34436=)
c.98704C>A (p.Arg32902=)
c.98701C>A (p.Arg32901=)
c.95743C>A (p.Arg31915=)
c.77359C>A (p.Arg25787=)
c.98854C>A (p.Arg32952=)
c.98851C>A (p.Arg32951=)
c.98284C>A (p.Arg32762=)
c.95626C>A (p.Arg31876=)
c.95545C>A (p.Arg31849=)
c.77308C>A (p.Arg25770=)
c.67162C>A (p.Arg22388=)
 ClinVar
2g.178532203C>ACA349411786TTN,TTN-AS1c.96708G>T (p.Arg32236Ser)
c.77793G>T (p.Arg25931Ser)
c.77592G>T (p.Arg25864Ser)
c.77217G>T (p.Arg25739Ser)
c.104412G>T (p.Arg34804Ser)
c.99489G>T (p.Arg33163Ser)
n.446+8567C>A
n.220-3529C>A
c.103509G>T (p.Arg34503Ser)
c.77403G>T (p.Arg25801Ser)
c.77262G>T (p.Arg25754Ser)
c.103305G>T (p.Arg34435Ser)
c.98703G>T (p.Arg32901Ser)
c.98700G>T (p.Arg32900Ser)
c.95742G>T (p.Arg31914Ser)
c.77358G>T (p.Arg25786Ser)
c.98853G>T (p.Arg32951Ser)
c.98850G>T (p.Arg32950Ser)
c.98283G>T (p.Arg32761Ser)
c.95625G>T (p.Arg31875Ser)
c.95544G>T (p.Arg31848Ser)
c.77307G>T (p.Arg25769Ser)
c.67161G>T (p.Arg22387Ser)
2g.178532203C=CA1310518124TTN,TTN-AS1c.96708G= (p.Arg32236=)
c.77793G= (p.Arg25931=)
c.77592G= (p.Arg25864=)
c.77217G= (p.Arg25739=)
c.104412G= (p.Arg34804=)
c.99489G= (p.Arg33163=)
n.446+8567C=
n.220-3529C=
c.103509G= (p.Arg34503=)
c.77403G= (p.Arg25801=)
c.77262G= (p.Arg25754=)
c.103305G= (p.Arg34435=)
c.98703G= (p.Arg32901=)
c.98700G= (p.Arg32900=)
c.95742G= (p.Arg31914=)
c.77358G= (p.Arg25786=)
c.98853G= (p.Arg32951=)
c.98850G= (p.Arg32950=)
c.98283G= (p.Arg32761=)
c.95625G= (p.Arg31875=)
c.95544G= (p.Arg31848=)
c.77307G= (p.Arg25769=)
c.67161G= (p.Arg22387=)
2g.178532203C>GCA349411787TTN,TTN-AS1c.96708G>C (p.Arg32236Ser)
c.77793G>C (p.Arg25931Ser)
c.77592G>C (p.Arg25864Ser)
c.77217G>C (p.Arg25739Ser)
c.104412G>C (p.Arg34804Ser)
c.99489G>C (p.Arg33163Ser)
n.446+8567C>G
n.220-3529C>G
c.103509G>C (p.Arg34503Ser)
c.77403G>C (p.Arg25801Ser)
c.77262G>C (p.Arg25754Ser)
c.103305G>C (p.Arg34435Ser)
c.98703G>C (p.Arg32901Ser)
c.98700G>C (p.Arg32900Ser)
c.95742G>C (p.Arg31914Ser)
c.77358G>C (p.Arg25786Ser)
c.98853G>C (p.Arg32951Ser)
c.98850G>C (p.Arg32950Ser)
c.98283G>C (p.Arg32761Ser)
c.95625G>C (p.Arg31875Ser)
c.95544G>C (p.Arg31848Ser)
c.77307G>C (p.Arg25769Ser)
c.67161G>C (p.Arg22387Ser)
2g.178532203C>TCA430235928TTN,TTN-AS1c.96708G>A (p.Arg32236=)
c.77793G>A (p.Arg25931=)
c.77592G>A (p.Arg25864=)
c.77217G>A (p.Arg25739=)
c.104412G>A (p.Arg34804=)
c.99489G>A (p.Arg33163=)
n.446+8567C>T
n.220-3529C>T
c.103509G>A (p.Arg34503=)
c.77403G>A (p.Arg25801=)
c.77262G>A (p.Arg25754=)
c.103305G>A (p.Arg34435=)
c.98703G>A (p.Arg32901=)
c.98700G>A (p.Arg32900=)
c.95742G>A (p.Arg31914=)
c.77358G>A (p.Arg25786=)
c.98853G>A (p.Arg32951=)
c.98850G>A (p.Arg32950=)
c.98283G>A (p.Arg32761=)
c.95625G>A (p.Arg31875=)
c.95544G>A (p.Arg31848=)
c.77307G>A (p.Arg25769=)
c.67161G>A (p.Arg22387=)
 ClinVar dbSNP gnomAD v4
2g.178532204C>ACA349411788TTN,TTN-AS1c.96707G>T (p.Arg32236Met)
c.77792G>T (p.Arg25931Met)
c.77591G>T (p.Arg25864Met)
c.77216G>T (p.Arg25739Met)
c.104411G>T (p.Arg34804Met)
c.99488G>T (p.Arg33163Met)
n.446+8568C>A
n.220-3528C>A
c.103508G>T (p.Arg34503Met)
c.77402G>T (p.Arg25801Met)
c.77261G>T (p.Arg25754Met)
c.103304G>T (p.Arg34435Met)
c.98702G>T (p.Arg32901Met)
c.98699G>T (p.Arg32900Met)
c.95741G>T (p.Arg31914Met)
c.77357G>T (p.Arg25786Met)
c.98852G>T (p.Arg32951Met)
c.98849G>T (p.Arg32950Met)
c.98282G>T (p.Arg32761Met)
c.95624G>T (p.Arg31875Met)
c.95543G>T (p.Arg31848Met)
c.77306G>T (p.Arg25769Met)
c.67160G>T (p.Arg22387Met)
2g.178532204C=CA1310518125TTN,TTN-AS1c.96707G= (p.Arg32236=)
c.77792G= (p.Arg25931=)
c.77591G= (p.Arg25864=)
c.77216G= (p.Arg25739=)
c.104411G= (p.Arg34804=)
c.99488G= (p.Arg33163=)
n.446+8568C=
n.220-3528C=
c.103508G= (p.Arg34503=)
c.77402G= (p.Arg25801=)
c.77261G= (p.Arg25754=)
c.103304G= (p.Arg34435=)
c.98702G= (p.Arg32901=)
c.98699G= (p.Arg32900=)
c.95741G= (p.Arg31914=)
c.77357G= (p.Arg25786=)
c.98852G= (p.Arg32951=)
c.98849G= (p.Arg32950=)
c.98282G= (p.Arg32761=)
c.95624G= (p.Arg31875=)
c.95543G= (p.Arg31848=)
c.77306G= (p.Arg25769=)
c.67160G= (p.Arg22387=)
2g.178532204C>GCA349411789TTN,TTN-AS1c.96707G>C (p.Arg32236Thr)
c.77792G>C (p.Arg25931Thr)
c.77591G>C (p.Arg25864Thr)
c.77216G>C (p.Arg25739Thr)
c.104411G>C (p.Arg34804Thr)
c.99488G>C (p.Arg33163Thr)
n.446+8568C>G
n.220-3528C>G
c.103508G>C (p.Arg34503Thr)
c.77402G>C (p.Arg25801Thr)
c.77261G>C (p.Arg25754Thr)
c.103304G>C (p.Arg34435Thr)
c.98702G>C (p.Arg32901Thr)
c.98699G>C (p.Arg32900Thr)
c.95741G>C (p.Arg31914Thr)
c.77357G>C (p.Arg25786Thr)
c.98852G>C (p.Arg32951Thr)
c.98849G>C (p.Arg32950Thr)
c.98282G>C (p.Arg32761Thr)
c.95624G>C (p.Arg31875Thr)
c.95543G>C (p.Arg31848Thr)
c.77306G>C (p.Arg25769Thr)
c.67160G>C (p.Arg22387Thr)
2g.178532204C>TCA349411790TTN,TTN-AS1c.96707G>A (p.Arg32236Lys)
c.77792G>A (p.Arg25931Lys)
c.77591G>A (p.Arg25864Lys)
c.77216G>A (p.Arg25739Lys)
c.104411G>A (p.Arg34804Lys)
c.99488G>A (p.Arg33163Lys)
n.446+8568C>T
n.220-3528C>T
c.103508G>A (p.Arg34503Lys)
c.77402G>A (p.Arg25801Lys)
c.77261G>A (p.Arg25754Lys)
c.103304G>A (p.Arg34435Lys)
c.98702G>A (p.Arg32901Lys)
c.98699G>A (p.Arg32900Lys)
c.95741G>A (p.Arg31914Lys)
c.77357G>A (p.Arg25786Lys)
c.98852G>A (p.Arg32951Lys)
c.98849G>A (p.Arg32950Lys)
c.98282G>A (p.Arg32761Lys)
c.95624G>A (p.Arg31875Lys)
c.95543G>A (p.Arg31848Lys)
c.77306G>A (p.Arg25769Lys)
c.67160G>A (p.Arg22387Lys)
 dbSNP gnomAD v3 gnomAD v4
2g.178532205T>ACA349411791TTN,TTN-AS1c.96706A>T (p.Arg32236Trp)
c.77791A>T (p.Arg25931Trp)
c.77590A>T (p.Arg25864Trp)
c.77215A>T (p.Arg25739Trp)
c.104410A>T (p.Arg34804Trp)
c.99487A>T (p.Arg33163Trp)
n.446+8569T>A
n.220-3527T>A
c.103507A>T (p.Arg34503Trp)
c.77401A>T (p.Arg25801Trp)
c.77260A>T (p.Arg25754Trp)
c.103303A>T (p.Arg34435Trp)
c.98701A>T (p.Arg32901Trp)
c.98698A>T (p.Arg32900Trp)
c.95740A>T (p.Arg31914Trp)
c.77356A>T (p.Arg25786Trp)
c.98851A>T (p.Arg32951Trp)
c.98848A>T (p.Arg32950Trp)
c.98281A>T (p.Arg32761Trp)
c.95623A>T (p.Arg31875Trp)
c.95542A>T (p.Arg31848Trp)
c.77305A>T (p.Arg25769Trp)
c.67159A>T (p.Arg22387Trp)
2g.178532205T>CCA349411792TTN,TTN-AS1c.96706A>G (p.Arg32236Gly)
c.77791A>G (p.Arg25931Gly)
c.77590A>G (p.Arg25864Gly)
c.77215A>G (p.Arg25739Gly)
c.104410A>G (p.Arg34804Gly)
c.99487A>G (p.Arg33163Gly)
n.446+8569T>C
n.220-3527T>C
c.103507A>G (p.Arg34503Gly)
c.77401A>G (p.Arg25801Gly)
c.77260A>G (p.Arg25754Gly)
c.103303A>G (p.Arg34435Gly)
c.98701A>G (p.Arg32901Gly)
c.98698A>G (p.Arg32900Gly)
c.95740A>G (p.Arg31914Gly)
c.77356A>G (p.Arg25786Gly)
c.98851A>G (p.Arg32951Gly)
c.98848A>G (p.Arg32950Gly)
c.98281A>G (p.Arg32761Gly)
c.95623A>G (p.Arg31875Gly)
c.95542A>G (p.Arg31848Gly)
c.77305A>G (p.Arg25769Gly)
c.67159A>G (p.Arg22387Gly)
2g.178532205T>GCA430235929TTN,TTN-AS1c.96706A>C (p.Arg32236=)
c.77791A>C (p.Arg25931=)
c.77590A>C (p.Arg25864=)
c.77215A>C (p.Arg25739=)
c.104410A>C (p.Arg34804=)
c.99487A>C (p.Arg33163=)
n.446+8569T>G
n.220-3527T>G
c.103507A>C (p.Arg34503=)
c.77401A>C (p.Arg25801=)
c.77260A>C (p.Arg25754=)
c.103303A>C (p.Arg34435=)
c.98701A>C (p.Arg32901=)
c.98698A>C (p.Arg32900=)
c.95740A>C (p.Arg31914=)
c.77356A>C (p.Arg25786=)
c.98851A>C (p.Arg32951=)
c.98848A>C (p.Arg32950=)
c.98281A>C (p.Arg32761=)
c.95623A>C (p.Arg31875=)
c.95542A>C (p.Arg31848=)
c.77305A>C (p.Arg25769=)
c.67159A>C (p.Arg22387=)
 ClinVar dbSNP gnomAD v4
2g.178532205T=CA1310518126TTN,TTN-AS1c.96706A= (p.Arg32236=)
c.77791A= (p.Arg25931=)
c.77590A= (p.Arg25864=)
c.77215A= (p.Arg25739=)
c.104410A= (p.Arg34804=)
c.99487A= (p.Arg33163=)
n.446+8569T=
n.220-3527T=
c.103507A= (p.Arg34503=)
c.77401A= (p.Arg25801=)
c.77260A= (p.Arg25754=)
c.103303A= (p.Arg34435=)
c.98701A= (p.Arg32901=)
c.98698A= (p.Arg32900=)
c.95740A= (p.Arg31914=)
c.77356A= (p.Arg25786=)
c.98851A= (p.Arg32951=)
c.98848A= (p.Arg32950=)
c.98281A= (p.Arg32761=)
c.95623A= (p.Arg31875=)
c.95542A= (p.Arg31848=)
c.77305A= (p.Arg25769=)
c.67159A= (p.Arg22387=)
2g.178532206T>ACA430235930TTN,TTN-AS1c.96705A>T (p.Ser32235=)
c.77790A>T (p.Ser25930=)
c.77589A>T (p.Ser25863=)
c.77214A>T (p.Ser25738=)
c.104409A>T (p.Ser34803=)
c.99486A>T (p.Ser33162=)
n.446+8570T>A
n.220-3526T>A
c.103506A>T (p.Ser34502=)
c.77400A>T (p.Ser25800=)
c.77259A>T (p.Ser25753=)
c.103302A>T (p.Ser34434=)
c.98700A>T (p.Ser32900=)
c.98697A>T (p.Ser32899=)
c.95739A>T (p.Ser31913=)
c.77355A>T (p.Ser25785=)
c.98850A>T (p.Ser32950=)
c.98847A>T (p.Ser32949=)
c.98280A>T (p.Ser32760=)
c.95622A>T (p.Ser31874=)
c.95541A>T (p.Ser31847=)
c.77304A>T (p.Ser25768=)
c.67158A>T (p.Ser22386=)
2g.178532206T>CCA430235931TTN,TTN-AS1c.96705A>G (p.Ser32235=)
c.77790A>G (p.Ser25930=)
c.77589A>G (p.Ser25863=)
c.77214A>G (p.Ser25738=)
c.104409A>G (p.Ser34803=)
c.99486A>G (p.Ser33162=)
n.446+8570T>C
n.220-3526T>C
c.103506A>G (p.Ser34502=)
c.77400A>G (p.Ser25800=)
c.77259A>G (p.Ser25753=)
c.103302A>G (p.Ser34434=)
c.98700A>G (p.Ser32900=)
c.98697A>G (p.Ser32899=)
c.95739A>G (p.Ser31913=)
c.77355A>G (p.Ser25785=)
c.98850A>G (p.Ser32950=)
c.98847A>G (p.Ser32949=)
c.98280A>G (p.Ser32760=)
c.95622A>G (p.Ser31874=)
c.95541A>G (p.Ser31847=)
c.77304A>G (p.Ser25768=)
c.67158A>G (p.Ser22386=)
2g.178532206T>GCA430235932TTN,TTN-AS1c.96705A>C (p.Ser32235=)
c.77790A>C (p.Ser25930=)
c.77589A>C (p.Ser25863=)
c.77214A>C (p.Ser25738=)
c.104409A>C (p.Ser34803=)
c.99486A>C (p.Ser33162=)
n.446+8570T>G
n.220-3526T>G
c.103506A>C (p.Ser34502=)
c.77400A>C (p.Ser25800=)
c.77259A>C (p.Ser25753=)
c.103302A>C (p.Ser34434=)
c.98700A>C (p.Ser32900=)
c.98697A>C (p.Ser32899=)
c.95739A>C (p.Ser31913=)
c.77355A>C (p.Ser25785=)
c.98850A>C (p.Ser32950=)
c.98847A>C (p.Ser32949=)
c.98280A>C (p.Ser32760=)
c.95622A>C (p.Ser31874=)
c.95541A>C (p.Ser31847=)
c.77304A>C (p.Ser25768=)
c.67158A>C (p.Ser22386=)
2g.178532207G>ACA349411793TTN,TTN-AS1c.96704C>T (p.Ser32235Leu)
c.77789C>T (p.Ser25930Leu)
c.77588C>T (p.Ser25863Leu)
c.77213C>T (p.Ser25738Leu)
c.104408C>T (p.Ser34803Leu)
c.99485C>T (p.Ser33162Leu)
n.446+8571G>A
n.220-3525G>A
c.103505C>T (p.Ser34502Leu)
c.77399C>T (p.Ser25800Leu)
c.77258C>T (p.Ser25753Leu)
c.103301C>T (p.Ser34434Leu)
c.98699C>T (p.Ser32900Leu)
c.98696C>T (p.Ser32899Leu)
c.95738C>T (p.Ser31913Leu)
c.77354C>T (p.Ser25785Leu)
c.98849C>T (p.Ser32950Leu)
c.98846C>T (p.Ser32949Leu)
c.98279C>T (p.Ser32760Leu)
c.95621C>T (p.Ser31874Leu)
c.95540C>T (p.Ser31847Leu)
c.77303C>T (p.Ser25768Leu)
c.67157C>T (p.Ser22386Leu)
2g.178532207G>CCA349411795TTN,TTN-AS1c.96704C>G (p.Ser32235Ter)
c.77789C>G (p.Ser25930Ter)
c.77588C>G (p.Ser25863Ter)
c.77213C>G (p.Ser25738Ter)
c.104408C>G (p.Ser34803Ter)
c.99485C>G (p.Ser33162Ter)
n.446+8571G>C
n.220-3525G>C
c.103505C>G (p.Ser34502Ter)
c.77399C>G (p.Ser25800Ter)
c.77258C>G (p.Ser25753Ter)
c.103301C>G (p.Ser34434Ter)
c.98699C>G (p.Ser32900Ter)
c.98696C>G (p.Ser32899Ter)
c.95738C>G (p.Ser31913Ter)
c.77354C>G (p.Ser25785Ter)
c.98849C>G (p.Ser32950Ter)
c.98846C>G (p.Ser32949Ter)
c.98279C>G (p.Ser32760Ter)
c.95621C>G (p.Ser31874Ter)
c.95540C>G (p.Ser31847Ter)
c.77303C>G (p.Ser25768Ter)
c.67157C>G (p.Ser22386Ter)
 ClinVar
2g.178532207G>TCA349411794TTN,TTN-AS1c.96704C>A (p.Ser32235Ter)
c.77789C>A (p.Ser25930Ter)
c.77588C>A (p.Ser25863Ter)
c.77213C>A (p.Ser25738Ter)
c.104408C>A (p.Ser34803Ter)
c.99485C>A (p.Ser33162Ter)
n.446+8571G>T
n.220-3525G>T
c.103505C>A (p.Ser34502Ter)
c.77399C>A (p.Ser25800Ter)
c.77258C>A (p.Ser25753Ter)
c.103301C>A (p.Ser34434Ter)
c.98699C>A (p.Ser32900Ter)
c.98696C>A (p.Ser32899Ter)
c.95738C>A (p.Ser31913Ter)
c.77354C>A (p.Ser25785Ter)
c.98849C>A (p.Ser32950Ter)
c.98846C>A (p.Ser32949Ter)
c.98279C>A (p.Ser32760Ter)
c.95621C>A (p.Ser31874Ter)
c.95540C>A (p.Ser31847Ter)
c.77303C>A (p.Ser25768Ter)
c.67157C>A (p.Ser22386Ter)
2g.178532208A>CCA349411796TTN,TTN-AS1c.96703T>G (p.Ser32235Ala)
c.77788T>G (p.Ser25930Ala)
c.77587T>G (p.Ser25863Ala)
c.77212T>G (p.Ser25738Ala)
c.104407T>G (p.Ser34803Ala)
c.99484T>G (p.Ser33162Ala)
n.446+8572A>C
n.220-3524A>C
c.103504T>G (p.Ser34502Ala)
c.77398T>G (p.Ser25800Ala)
c.77257T>G (p.Ser25753Ala)
c.103300T>G (p.Ser34434Ala)
c.98698T>G (p.Ser32900Ala)
c.98695T>G (p.Ser32899Ala)
c.95737T>G (p.Ser31913Ala)
c.77353T>G (p.Ser25785Ala)
c.98848T>G (p.Ser32950Ala)
c.98845T>G (p.Ser32949Ala)
c.98278T>G (p.Ser32760Ala)
c.95620T>G (p.Ser31874Ala)
c.95539T>G (p.Ser31847Ala)
c.77302T>G (p.Ser25768Ala)
c.67156T>G (p.Ser22386Ala)
2g.178532208A>GCA349411797TTN,TTN-AS1c.96703T>C (p.Ser32235Pro)
c.77788T>C (p.Ser25930Pro)
c.77587T>C (p.Ser25863Pro)
c.77212T>C (p.Ser25738Pro)
c.104407T>C (p.Ser34803Pro)
c.99484T>C (p.Ser33162Pro)
n.446+8572A>G
n.220-3524A>G
c.103504T>C (p.Ser34502Pro)
c.77398T>C (p.Ser25800Pro)
c.77257T>C (p.Ser25753Pro)
c.103300T>C (p.Ser34434Pro)
c.98698T>C (p.Ser32900Pro)
c.98695T>C (p.Ser32899Pro)
c.95737T>C (p.Ser31913Pro)
c.77353T>C (p.Ser25785Pro)
c.98848T>C (p.Ser32950Pro)
c.98845T>C (p.Ser32949Pro)
c.98278T>C (p.Ser32760Pro)
c.95620T>C (p.Ser31874Pro)
c.95539T>C (p.Ser31847Pro)
c.77302T>C (p.Ser25768Pro)
c.67156T>C (p.Ser22386Pro)
2g.178532208A>TCA349411798TTN,TTN-AS1c.96703T>A (p.Ser32235Thr)
c.77788T>A (p.Ser25930Thr)
c.77587T>A (p.Ser25863Thr)
c.77212T>A (p.Ser25738Thr)
c.104407T>A (p.Ser34803Thr)
c.99484T>A (p.Ser33162Thr)
n.446+8572A>T
n.220-3524A>T
c.103504T>A (p.Ser34502Thr)
c.77398T>A (p.Ser25800Thr)
c.77257T>A (p.Ser25753Thr)
c.103300T>A (p.Ser34434Thr)
c.98698T>A (p.Ser32900Thr)
c.98695T>A (p.Ser32899Thr)
c.95737T>A (p.Ser31913Thr)
c.77353T>A (p.Ser25785Thr)
c.98848T>A (p.Ser32950Thr)
c.98845T>A (p.Ser32949Thr)
c.98278T>A (p.Ser32760Thr)
c.95620T>A (p.Ser31874Thr)
c.95539T>A (p.Ser31847Thr)
c.77302T>A (p.Ser25768Thr)
c.67156T>A (p.Ser22386Thr)
2g.178532209T>ACA349411799TTN,TTN-AS1c.96702A>T (p.Lys32234Asn)
c.77787A>T (p.Lys25929Asn)
c.77586A>T (p.Lys25862Asn)
c.77211A>T (p.Lys25737Asn)
c.104406A>T (p.Lys34802Asn)
c.99483A>T (p.Lys33161Asn)
n.446+8573T>A
n.220-3523T>A
c.103503A>T (p.Lys34501Asn)
c.77397A>T (p.Lys25799Asn)
c.77256A>T (p.Lys25752Asn)
c.103299A>T (p.Lys34433Asn)
c.98697A>T (p.Lys32899Asn)
c.98694A>T (p.Lys32898Asn)
c.95736A>T (p.Lys31912Asn)
c.77352A>T (p.Lys25784Asn)
c.98847A>T (p.Lys32949Asn)
c.98844A>T (p.Lys32948Asn)
c.98277A>T (p.Lys32759Asn)
c.95619A>T (p.Lys31873Asn)
c.95538A>T (p.Lys31846Asn)
c.77301A>T (p.Lys25767Asn)
c.67155A>T (p.Lys22385Asn)
2g.178532209T>CCA430235933TTN,TTN-AS1c.96702A>G (p.Lys32234=)
c.77787A>G (p.Lys25929=)
c.77586A>G (p.Lys25862=)
c.77211A>G (p.Lys25737=)
c.104406A>G (p.Lys34802=)
c.99483A>G (p.Lys33161=)
n.446+8573T>C
n.220-3523T>C
c.103503A>G (p.Lys34501=)
c.77397A>G (p.Lys25799=)
c.77256A>G (p.Lys25752=)
c.103299A>G (p.Lys34433=)
c.98697A>G (p.Lys32899=)
c.98694A>G (p.Lys32898=)
c.95736A>G (p.Lys31912=)
c.77352A>G (p.Lys25784=)
c.98847A>G (p.Lys32949=)
c.98844A>G (p.Lys32948=)
c.98277A>G (p.Lys32759=)
c.95619A>G (p.Lys31873=)
c.95538A>G (p.Lys31846=)
c.77301A>G (p.Lys25767=)
c.67155A>G (p.Lys22385=)
 ClinVar
2g.178532209T>GCA349411800TTN,TTN-AS1c.96702A>C (p.Lys32234Asn)
c.77787A>C (p.Lys25929Asn)
c.77586A>C (p.Lys25862Asn)
c.77211A>C (p.Lys25737Asn)
c.104406A>C (p.Lys34802Asn)
c.99483A>C (p.Lys33161Asn)
n.446+8573T>G
n.220-3523T>G
c.103503A>C (p.Lys34501Asn)
c.77397A>C (p.Lys25799Asn)
c.77256A>C (p.Lys25752Asn)
c.103299A>C (p.Lys34433Asn)
c.98697A>C (p.Lys32899Asn)
c.98694A>C (p.Lys32898Asn)
c.95736A>C (p.Lys31912Asn)
c.77352A>C (p.Lys25784Asn)
c.98847A>C (p.Lys32949Asn)
c.98844A>C (p.Lys32948Asn)
c.98277A>C (p.Lys32759Asn)
c.95619A>C (p.Lys31873Asn)
c.95538A>C (p.Lys31846Asn)
c.77301A>C (p.Lys25767Asn)
c.67155A>C (p.Lys22385Asn)
2g.178532210T>ACA349411801TTN,TTN-AS1c.96701A>T (p.Lys32234Ile)
c.77786A>T (p.Lys25929Ile)
c.77585A>T (p.Lys25862Ile)
c.77210A>T (p.Lys25737Ile)
c.104405A>T (p.Lys34802Ile)
c.99482A>T (p.Lys33161Ile)
n.446+8574T>A
n.220-3522T>A
c.103502A>T (p.Lys34501Ile)
c.77396A>T (p.Lys25799Ile)
c.77255A>T (p.Lys25752Ile)
c.103298A>T (p.Lys34433Ile)
c.98696A>T (p.Lys32899Ile)
c.98693A>T (p.Lys32898Ile)
c.95735A>T (p.Lys31912Ile)
c.77351A>T (p.Lys25784Ile)
c.98846A>T (p.Lys32949Ile)
c.98843A>T (p.Lys32948Ile)
c.98276A>T (p.Lys32759Ile)
c.95618A>T (p.Lys31873Ile)
c.95537A>T (p.Lys31846Ile)
c.77300A>T (p.Lys25767Ile)
c.67154A>T (p.Lys22385Ile)
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
2g.178532210T>CCA349411802TTN,TTN-AS1c.96701A>G (p.Lys32234Arg)
c.77786A>G (p.Lys25929Arg)
c.77585A>G (p.Lys25862Arg)
c.77210A>G (p.Lys25737Arg)
c.104405A>G (p.Lys34802Arg)
c.99482A>G (p.Lys33161Arg)
n.446+8574T>C
n.220-3522T>C
c.103502A>G (p.Lys34501Arg)
c.77396A>G (p.Lys25799Arg)
c.77255A>G (p.Lys25752Arg)
c.103298A>G (p.Lys34433Arg)
c.98696A>G (p.Lys32899Arg)
c.98693A>G (p.Lys32898Arg)
c.95735A>G (p.Lys31912Arg)
c.77351A>G (p.Lys25784Arg)
c.98846A>G (p.Lys32949Arg)
c.98843A>G (p.Lys32948Arg)
c.98276A>G (p.Lys32759Arg)
c.95618A>G (p.Lys31873Arg)
c.95537A>G (p.Lys31846Arg)
c.77300A>G (p.Lys25767Arg)
c.67154A>G (p.Lys22385Arg)
2g.178532210T>GCA349411803TTN,TTN-AS1c.96701A>C (p.Lys32234Thr)
c.77786A>C (p.Lys25929Thr)
c.77585A>C (p.Lys25862Thr)
c.77210A>C (p.Lys25737Thr)
c.104405A>C (p.Lys34802Thr)
c.99482A>C (p.Lys33161Thr)
n.446+8574T>G
n.220-3522T>G
c.103502A>C (p.Lys34501Thr)
c.77396A>C (p.Lys25799Thr)
c.77255A>C (p.Lys25752Thr)
c.103298A>C (p.Lys34433Thr)
c.98696A>C (p.Lys32899Thr)
c.98693A>C (p.Lys32898Thr)
c.95735A>C (p.Lys31912Thr)
c.77351A>C (p.Lys25784Thr)
c.98846A>C (p.Lys32949Thr)
c.98843A>C (p.Lys32948Thr)
c.98276A>C (p.Lys32759Thr)
c.95618A>C (p.Lys31873Thr)
c.95537A>C (p.Lys31846Thr)
c.77300A>C (p.Lys25767Thr)
c.67154A>C (p.Lys22385Thr)
2g.178532210T=CA1310518127TTN,TTN-AS1c.96701A= (p.Lys32234=)
c.77786A= (p.Lys25929=)
c.77585A= (p.Lys25862=)
c.77210A= (p.Lys25737=)
c.104405A= (p.Lys34802=)
c.99482A= (p.Lys33161=)
n.446+8574T=
n.220-3522T=
c.103502A= (p.Lys34501=)
c.77396A= (p.Lys25799=)
c.77255A= (p.Lys25752=)
c.103298A= (p.Lys34433=)
c.98696A= (p.Lys32899=)
c.98693A= (p.Lys32898=)
c.95735A= (p.Lys31912=)
c.77351A= (p.Lys25784=)
c.98846A= (p.Lys32949=)
c.98843A= (p.Lys32948=)
c.98276A= (p.Lys32759=)
c.95618A= (p.Lys31873=)
c.95537A= (p.Lys31846=)
c.77300A= (p.Lys25767=)
c.67154A= (p.Lys22385=)
2g.178532211T>ACA349411804TTN,TTN-AS1c.96700A>T (p.Lys32234Ter)
c.77785A>T (p.Lys25929Ter)
c.77584A>T (p.Lys25862Ter)
c.77209A>T (p.Lys25737Ter)
c.104404A>T (p.Lys34802Ter)
c.99481A>T (p.Lys33161Ter)
n.446+8575T>A
n.220-3521T>A
c.103501A>T (p.Lys34501Ter)
c.77395A>T (p.Lys25799Ter)
c.77254A>T (p.Lys25752Ter)
c.103297A>T (p.Lys34433Ter)
c.98695A>T (p.Lys32899Ter)
c.98692A>T (p.Lys32898Ter)
c.95734A>T (p.Lys31912Ter)
c.77350A>T (p.Lys25784Ter)
c.98845A>T (p.Lys32949Ter)
c.98842A>T (p.Lys32948Ter)
c.98275A>T (p.Lys32759Ter)
c.95617A>T (p.Lys31873Ter)
c.95536A>T (p.Lys31846Ter)
c.77299A>T (p.Lys25767Ter)
c.67153A>T (p.Lys22385Ter)
2g.178532211T>CCA349411805TTN,TTN-AS1c.96700A>G (p.Lys32234Glu)
c.77785A>G (p.Lys25929Glu)
c.77584A>G (p.Lys25862Glu)
c.77209A>G (p.Lys25737Glu)
c.104404A>G (p.Lys34802Glu)
c.99481A>G (p.Lys33161Glu)
n.446+8575T>C
n.220-3521T>C
c.103501A>G (p.Lys34501Glu)
c.77395A>G (p.Lys25799Glu)
c.77254A>G (p.Lys25752Glu)
c.103297A>G (p.Lys34433Glu)
c.98695A>G (p.Lys32899Glu)
c.98692A>G (p.Lys32898Glu)
c.95734A>G (p.Lys31912Glu)
c.77350A>G (p.Lys25784Glu)
c.98845A>G (p.Lys32949Glu)
c.98842A>G (p.Lys32948Glu)
c.98275A>G (p.Lys32759Glu)
c.95617A>G (p.Lys31873Glu)
c.95536A>G (p.Lys31846Glu)
c.77299A>G (p.Lys25767Glu)
c.67153A>G (p.Lys22385Glu)
2g.178532211T>GCA349411806TTN,TTN-AS1c.96700A>C (p.Lys32234Gln)
c.77785A>C (p.Lys25929Gln)
c.77584A>C (p.Lys25862Gln)
c.77209A>C (p.Lys25737Gln)
c.104404A>C (p.Lys34802Gln)
c.99481A>C (p.Lys33161Gln)
n.446+8575T>G
n.220-3521T>G
c.103501A>C (p.Lys34501Gln)
c.77395A>C (p.Lys25799Gln)
c.77254A>C (p.Lys25752Gln)
c.103297A>C (p.Lys34433Gln)
c.98695A>C (p.Lys32899Gln)
c.98692A>C (p.Lys32898Gln)
c.95734A>C (p.Lys31912Gln)
c.77350A>C (p.Lys25784Gln)
c.98845A>C (p.Lys32949Gln)
c.98842A>C (p.Lys32948Gln)
c.98275A>C (p.Lys32759Gln)
c.95617A>C (p.Lys31873Gln)
c.95536A>C (p.Lys31846Gln)
c.77299A>C (p.Lys25767Gln)
c.67153A>C (p.Lys22385Gln)
2g.178532212C>ACA349411807TTN,TTN-AS1c.96699G>T (p.Lys32233Asn)
c.77784G>T (p.Lys25928Asn)
c.77583G>T (p.Lys25861Asn)
c.77208G>T (p.Lys25736Asn)
c.104403G>T (p.Lys34801Asn)
c.99480G>T (p.Lys33160Asn)
n.446+8576C>A
n.220-3520C>A
c.103500G>T (p.Lys34500Asn)
c.77394G>T (p.Lys25798Asn)
c.77253G>T (p.Lys25751Asn)
c.103296G>T (p.Lys34432Asn)
c.98694G>T (p.Lys32898Asn)
c.98691G>T (p.Lys32897Asn)
c.95733G>T (p.Lys31911Asn)
c.77349G>T (p.Lys25783Asn)
c.98844G>T (p.Lys32948Asn)
c.98841G>T (p.Lys32947Asn)
c.98274G>T (p.Lys32758Asn)
c.95616G>T (p.Lys31872Asn)
c.95535G>T (p.Lys31845Asn)
c.77298G>T (p.Lys25766Asn)
c.67152G>T (p.Lys22384Asn)
2g.178532212C>GCA349411808TTN,TTN-AS1c.96699G>C (p.Lys32233Asn)
c.77784G>C (p.Lys25928Asn)
c.77583G>C (p.Lys25861Asn)
c.77208G>C (p.Lys25736Asn)
c.104403G>C (p.Lys34801Asn)
c.99480G>C (p.Lys33160Asn)
n.446+8576C>G
n.220-3520C>G
c.103500G>C (p.Lys34500Asn)
c.77394G>C (p.Lys25798Asn)
c.77253G>C (p.Lys25751Asn)
c.103296G>C (p.Lys34432Asn)
c.98694G>C (p.Lys32898Asn)
c.98691G>C (p.Lys32897Asn)
c.95733G>C (p.Lys31911Asn)
c.77349G>C (p.Lys25783Asn)
c.98844G>C (p.Lys32948Asn)
c.98841G>C (p.Lys32947Asn)
c.98274G>C (p.Lys32758Asn)
c.95616G>C (p.Lys31872Asn)
c.95535G>C (p.Lys31845Asn)
c.77298G>C (p.Lys25766Asn)
c.67152G>C (p.Lys22384Asn)
2g.178532212C>TCA430235934TTN,TTN-AS1c.96699G>A (p.Lys32233=)
c.77784G>A (p.Lys25928=)
c.77583G>A (p.Lys25861=)
c.77208G>A (p.Lys25736=)
c.104403G>A (p.Lys34801=)
c.99480G>A (p.Lys33160=)
n.446+8576C>T
n.220-3520C>T
c.103500G>A (p.Lys34500=)
c.77394G>A (p.Lys25798=)
c.77253G>A (p.Lys25751=)
c.103296G>A (p.Lys34432=)
c.98694G>A (p.Lys32898=)
c.98691G>A (p.Lys32897=)
c.95733G>A (p.Lys31911=)
c.77349G>A (p.Lys25783=)
c.98844G>A (p.Lys32948=)
c.98841G>A (p.Lys32947=)
c.98274G>A (p.Lys32758=)
c.95616G>A (p.Lys31872=)
c.95535G>A (p.Lys31845=)
c.77298G>A (p.Lys25766=)
c.67152G>A (p.Lys22384=)
 ClinVar
2g.178532213T>ACA349411809TTN,TTN-AS1c.96698A>T (p.Lys32233Met)
c.77783A>T (p.Lys25928Met)
c.77582A>T (p.Lys25861Met)
c.77207A>T (p.Lys25736Met)
c.104402A>T (p.Lys34801Met)
c.99479A>T (p.Lys33160Met)
n.446+8577T>A
n.220-3519T>A
c.103499A>T (p.Lys34500Met)
c.77393A>T (p.Lys25798Met)
c.77252A>T (p.Lys25751Met)
c.103295A>T (p.Lys34432Met)
c.98693A>T (p.Lys32898Met)
c.98690A>T (p.Lys32897Met)
c.95732A>T (p.Lys31911Met)
c.77348A>T (p.Lys25783Met)
c.98843A>T (p.Lys32948Met)
c.98840A>T (p.Lys32947Met)
c.98273A>T (p.Lys32758Met)
c.95615A>T (p.Lys31872Met)
c.95534A>T (p.Lys31845Met)
c.77297A>T (p.Lys25766Met)
c.67151A>T (p.Lys22384Met)
2g.178532213T>CCA349411811TTN,TTN-AS1c.96698A>G (p.Lys32233Arg)
c.77783A>G (p.Lys25928Arg)
c.77582A>G (p.Lys25861Arg)
c.77207A>G (p.Lys25736Arg)
c.104402A>G (p.Lys34801Arg)
c.99479A>G (p.Lys33160Arg)
n.446+8577T>C
n.220-3519T>C
c.103499A>G (p.Lys34500Arg)
c.77393A>G (p.Lys25798Arg)
c.77252A>G (p.Lys25751Arg)
c.103295A>G (p.Lys34432Arg)
c.98693A>G (p.Lys32898Arg)
c.98690A>G (p.Lys32897Arg)
c.95732A>G (p.Lys31911Arg)
c.77348A>G (p.Lys25783Arg)
c.98843A>G (p.Lys32948Arg)
c.98840A>G (p.Lys32947Arg)
c.98273A>G (p.Lys32758Arg)
c.95615A>G (p.Lys31872Arg)
c.95534A>G (p.Lys31845Arg)
c.77297A>G (p.Lys25766Arg)
c.67151A>G (p.Lys22384Arg)
2g.178532213T>GCA349411810TTN,TTN-AS1c.96698A>C (p.Lys32233Thr)
c.77783A>C (p.Lys25928Thr)
c.77582A>C (p.Lys25861Thr)
c.77207A>C (p.Lys25736Thr)
c.104402A>C (p.Lys34801Thr)
c.99479A>C (p.Lys33160Thr)
n.446+8577T>G
n.220-3519T>G
c.103499A>C (p.Lys34500Thr)
c.77393A>C (p.Lys25798Thr)
c.77252A>C (p.Lys25751Thr)
c.103295A>C (p.Lys34432Thr)
c.98693A>C (p.Lys32898Thr)
c.98690A>C (p.Lys32897Thr)
c.95732A>C (p.Lys31911Thr)
c.77348A>C (p.Lys25783Thr)
c.98843A>C (p.Lys32948Thr)
c.98840A>C (p.Lys32947Thr)
c.98273A>C (p.Lys32758Thr)
c.95615A>C (p.Lys31872Thr)
c.95534A>C (p.Lys31845Thr)
c.77297A>C (p.Lys25766Thr)
c.67151A>C (p.Lys22384Thr)
2g.178532214T>ACA349411812TTN,TTN-AS1c.96697A>T (p.Lys32233Ter)
c.77782A>T (p.Lys25928Ter)
c.77581A>T (p.Lys25861Ter)
c.77206A>T (p.Lys25736Ter)
c.104401A>T (p.Lys34801Ter)
c.99478A>T (p.Lys33160Ter)
n.446+8578T>A
n.220-3518T>A
c.103498A>T (p.Lys34500Ter)
c.77392A>T (p.Lys25798Ter)
c.77251A>T (p.Lys25751Ter)
c.103294A>T (p.Lys34432Ter)
c.98692A>T (p.Lys32898Ter)
c.98689A>T (p.Lys32897Ter)
c.95731A>T (p.Lys31911Ter)
c.77347A>T (p.Lys25783Ter)
c.98842A>T (p.Lys32948Ter)
c.98839A>T (p.Lys32947Ter)
c.98272A>T (p.Lys32758Ter)
c.95614A>T (p.Lys31872Ter)
c.95533A>T (p.Lys31845Ter)
c.77296A>T (p.Lys25766Ter)
c.67150A>T (p.Lys22384Ter)
2g.178532214T>CCA349411813TTN,TTN-AS1c.96697A>G (p.Lys32233Glu)
c.77782A>G (p.Lys25928Glu)
c.77581A>G (p.Lys25861Glu)
c.77206A>G (p.Lys25736Glu)
c.104401A>G (p.Lys34801Glu)
c.99478A>G (p.Lys33160Glu)
n.446+8578T>C
n.220-3518T>C
c.103498A>G (p.Lys34500Glu)
c.77392A>G (p.Lys25798Glu)
c.77251A>G (p.Lys25751Glu)
c.103294A>G (p.Lys34432Glu)
c.98692A>G (p.Lys32898Glu)
c.98689A>G (p.Lys32897Glu)
c.95731A>G (p.Lys31911Glu)
c.77347A>G (p.Lys25783Glu)
c.98842A>G (p.Lys32948Glu)
c.98839A>G (p.Lys32947Glu)
c.98272A>G (p.Lys32758Glu)
c.95614A>G (p.Lys31872Glu)
c.95533A>G (p.Lys31845Glu)
c.77296A>G (p.Lys25766Glu)
c.67150A>G (p.Lys22384Glu)
 gnomAD v4
2g.178532214T>GCA349411814TTN,TTN-AS1c.96697A>C (p.Lys32233Gln)
c.77782A>C (p.Lys25928Gln)
c.77581A>C (p.Lys25861Gln)
c.77206A>C (p.Lys25736Gln)
c.104401A>C (p.Lys34801Gln)
c.99478A>C (p.Lys33160Gln)
n.446+8578T>G
n.220-3518T>G
c.103498A>C (p.Lys34500Gln)
c.77392A>C (p.Lys25798Gln)
c.77251A>C (p.Lys25751Gln)
c.103294A>C (p.Lys34432Gln)
c.98692A>C (p.Lys32898Gln)
c.98689A>C (p.Lys32897Gln)
c.95731A>C (p.Lys31911Gln)
c.77347A>C (p.Lys25783Gln)
c.98842A>C (p.Lys32948Gln)
c.98839A>C (p.Lys32947Gln)
c.98272A>C (p.Lys32758Gln)
c.95614A>C (p.Lys31872Gln)
c.95533A>C (p.Lys31845Gln)
c.77296A>C (p.Lys25766Gln)
c.67150A>C (p.Lys22384Gln)
2g.178532215T>ACA349411815TTN,TTN-AS1c.96696A>T (p.Arg32232Ser)
c.77781A>T (p.Arg25927Ser)
c.77580A>T (p.Arg25860Ser)
c.77205A>T (p.Arg25735Ser)
c.104400A>T (p.Arg34800Ser)
c.99477A>T (p.Arg33159Ser)
n.446+8579T>A
n.220-3517T>A
c.103497A>T (p.Arg34499Ser)
c.77391A>T (p.Arg25797Ser)
c.77250A>T (p.Arg25750Ser)
c.103293A>T (p.Arg34431Ser)
c.98691A>T (p.Arg32897Ser)
c.98688A>T (p.Arg32896Ser)
c.95730A>T (p.Arg31910Ser)
c.77346A>T (p.Arg25782Ser)
c.98841A>T (p.Arg32947Ser)
c.98838A>T (p.Arg32946Ser)
c.98271A>T (p.Arg32757Ser)
c.95613A>T (p.Arg31871Ser)
c.95532A>T (p.Arg31844Ser)
c.77295A>T (p.Arg25765Ser)
c.67149A>T (p.Arg22383Ser)
2g.178532215T>CCA430235935TTN,TTN-AS1c.96696A>G (p.Arg32232=)
c.77781A>G (p.Arg25927=)
c.77580A>G (p.Arg25860=)
c.77205A>G (p.Arg25735=)
c.104400A>G (p.Arg34800=)
c.99477A>G (p.Arg33159=)
n.446+8579T>C
n.220-3517T>C
c.103497A>G (p.Arg34499=)
c.77391A>G (p.Arg25797=)
c.77250A>G (p.Arg25750=)
c.103293A>G (p.Arg34431=)
c.98691A>G (p.Arg32897=)
c.98688A>G (p.Arg32896=)
c.95730A>G (p.Arg31910=)
c.77346A>G (p.Arg25782=)
c.98841A>G (p.Arg32947=)
c.98838A>G (p.Arg32946=)
c.98271A>G (p.Arg32757=)
c.95613A>G (p.Arg31871=)
c.95532A>G (p.Arg31844=)
c.77295A>G (p.Arg25765=)
c.67149A>G (p.Arg22383=)
2g.178532215T>GCA349411816TTN,TTN-AS1c.96696A>C (p.Arg32232Ser)
c.77781A>C (p.Arg25927Ser)
c.77580A>C (p.Arg25860Ser)
c.77205A>C (p.Arg25735Ser)
c.104400A>C (p.Arg34800Ser)
c.99477A>C (p.Arg33159Ser)
n.446+8579T>G
n.220-3517T>G
c.103497A>C (p.Arg34499Ser)
c.77391A>C (p.Arg25797Ser)
c.77250A>C (p.Arg25750Ser)
c.103293A>C (p.Arg34431Ser)
c.98691A>C (p.Arg32897Ser)
c.98688A>C (p.Arg32896Ser)
c.95730A>C (p.Arg31910Ser)
c.77346A>C (p.Arg25782Ser)
c.98841A>C (p.Arg32947Ser)
c.98838A>C (p.Arg32946Ser)
c.98271A>C (p.Arg32757Ser)
c.95613A>C (p.Arg31871Ser)
c.95532A>C (p.Arg31844Ser)
c.77295A>C (p.Arg25765Ser)
c.67149A>C (p.Arg22383Ser)
2g.178532215_178532216delinsTCCA1310518128TTN,TTN-AS1c.96695_96696delinsGA (p.Arg32232=)
c.77780_77781delinsGA (p.Arg25927=)
c.77579_77580delinsGA (p.Arg25860=)
c.77204_77205delinsGA (p.Arg25735=)
c.104399_104400delinsGA (p.Arg34800=)
c.99476_99477delinsGA (p.Arg33159=)
n.446+8579_446+8580delinsTC
n.220-3517_220-3516delinsTC
c.103496_103497delinsGA (p.Arg34499=)
c.77390_77391delinsGA (p.Arg25797=)
c.77249_77250delinsGA (p.Arg25750=)
c.103292_103293delinsGA (p.Arg34431=)
c.98690_98691delinsGA (p.Arg32897=)
c.98687_98688delinsGA (p.Arg32896=)
c.95729_95730delinsGA (p.Arg31910=)
c.77345_77346delinsGA (p.Arg25782=)
c.98840_98841delinsGA (p.Arg32947=)
c.98837_98838delinsGA (p.Arg32946=)
c.98270_98271delinsGA (p.Arg32757=)
c.95612_95613delinsGA (p.Arg31871=)
c.95531_95532delinsGA (p.Arg31844=)
c.77294_77295delinsGA (p.Arg25765=)
c.67148_67149delinsGA (p.Arg22383=)
2g.178532216delCA1985431TTN,TTN-AS1c.96695del (p.Arg32232LysfsTer10)
c.77780del (p.Arg25927LysfsTer10)
c.77579del (p.Arg25860LysfsTer10)
c.77204del (p.Arg25735LysfsTer10)
c.104399del (p.Arg34800LysfsTer10)
c.99476del (p.Arg33159LysfsTer10)
n.446+8580del
n.220-3516del
c.103496del (p.Arg34499LysfsTer10)
c.77390del (p.Arg25797LysfsTer10)
c.77249del (p.Arg25750LysfsTer10)
c.103292del (p.Arg34431LysfsTer10)
c.98690del (p.Arg32897LysfsTer10)
c.98687del (p.Arg32896LysfsTer10)
c.95729del (p.Arg31910LysfsTer10)
c.77345del (p.Arg25782LysfsTer10)
c.98840del (p.Arg32947LysfsTer10)
c.98837del (p.Arg32946LysfsTer10)
c.98270del (p.Arg32757LysfsTer10)
c.95612del (p.Arg31871LysfsTer10)
c.95531del (p.Arg31844LysfsTer10)
c.77294del (p.Arg25765LysfsTer10)
c.67148del (p.Arg22383LysfsTer10)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532216C>ACA349411817TTN,TTN-AS1c.96695G>T (p.Arg32232Ile)
c.77780G>T (p.Arg25927Ile)
c.77579G>T (p.Arg25860Ile)
c.77204G>T (p.Arg25735Ile)
c.104399G>T (p.Arg34800Ile)
c.99476G>T (p.Arg33159Ile)
n.446+8580C>A
n.220-3516C>A
c.103496G>T (p.Arg34499Ile)
c.77390G>T (p.Arg25797Ile)
c.77249G>T (p.Arg25750Ile)
c.103292G>T (p.Arg34431Ile)
c.98690G>T (p.Arg32897Ile)
c.98687G>T (p.Arg32896Ile)
c.95729G>T (p.Arg31910Ile)
c.77345G>T (p.Arg25782Ile)
c.98840G>T (p.Arg32947Ile)
c.98837G>T (p.Arg32946Ile)
c.98270G>T (p.Arg32757Ile)
c.95612G>T (p.Arg31871Ile)
c.95531G>T (p.Arg31844Ile)
c.77294G>T (p.Arg25765Ile)
c.67148G>T (p.Arg22383Ile)
2g.178532216C>GCA349411818TTN,TTN-AS1c.96695G>C (p.Arg32232Thr)
c.77780G>C (p.Arg25927Thr)
c.77579G>C (p.Arg25860Thr)
c.77204G>C (p.Arg25735Thr)
c.104399G>C (p.Arg34800Thr)
c.99476G>C (p.Arg33159Thr)
n.446+8580C>G
n.220-3516C>G
c.103496G>C (p.Arg34499Thr)
c.77390G>C (p.Arg25797Thr)
c.77249G>C (p.Arg25750Thr)
c.103292G>C (p.Arg34431Thr)
c.98690G>C (p.Arg32897Thr)
c.98687G>C (p.Arg32896Thr)
c.95729G>C (p.Arg31910Thr)
c.77345G>C (p.Arg25782Thr)
c.98840G>C (p.Arg32947Thr)
c.98837G>C (p.Arg32946Thr)
c.98270G>C (p.Arg32757Thr)
c.95612G>C (p.Arg31871Thr)
c.95531G>C (p.Arg31844Thr)
c.77294G>C (p.Arg25765Thr)
c.67148G>C (p.Arg22383Thr)
2g.178532216C>TCA349411819TTN,TTN-AS1c.96695G>A (p.Arg32232Lys)
c.77780G>A (p.Arg25927Lys)
c.77579G>A (p.Arg25860Lys)
c.77204G>A (p.Arg25735Lys)
c.104399G>A (p.Arg34800Lys)
c.99476G>A (p.Arg33159Lys)
n.446+8580C>T
n.220-3516C>T
c.103496G>A (p.Arg34499Lys)
c.77390G>A (p.Arg25797Lys)
c.77249G>A (p.Arg25750Lys)
c.103292G>A (p.Arg34431Lys)
c.98690G>A (p.Arg32897Lys)
c.98687G>A (p.Arg32896Lys)
c.95729G>A (p.Arg31910Lys)
c.77345G>A (p.Arg25782Lys)
c.98840G>A (p.Arg32947Lys)
c.98837G>A (p.Arg32946Lys)
c.98270G>A (p.Arg32757Lys)
c.95612G>A (p.Arg31871Lys)
c.95531G>A (p.Arg31844Lys)
c.77294G>A (p.Arg25765Lys)
c.67148G>A (p.Arg22383Lys)
2g.178532217T>ACA349411820TTN,TTN-AS1c.96694A>T (p.Arg32232Ter)
c.77779A>T (p.Arg25927Ter)
c.77578A>T (p.Arg25860Ter)
c.77203A>T (p.Arg25735Ter)
c.104398A>T (p.Arg34800Ter)
c.99475A>T (p.Arg33159Ter)
n.446+8581T>A
n.220-3515T>A
c.103495A>T (p.Arg34499Ter)
c.77389A>T (p.Arg25797Ter)
c.77248A>T (p.Arg25750Ter)
c.103291A>T (p.Arg34431Ter)
c.98689A>T (p.Arg32897Ter)
c.98686A>T (p.Arg32896Ter)
c.95728A>T (p.Arg31910Ter)
c.77344A>T (p.Arg25782Ter)
c.98839A>T (p.Arg32947Ter)
c.98836A>T (p.Arg32946Ter)
c.98269A>T (p.Arg32757Ter)
c.95611A>T (p.Arg31871Ter)
c.95530A>T (p.Arg31844Ter)
c.77293A>T (p.Arg25765Ter)
c.67147A>T (p.Arg22383Ter)
2g.178532217T>CCA349411821TTN,TTN-AS1c.96694A>G (p.Arg32232Gly)
c.77779A>G (p.Arg25927Gly)
c.77578A>G (p.Arg25860Gly)
c.77203A>G (p.Arg25735Gly)
c.104398A>G (p.Arg34800Gly)
c.99475A>G (p.Arg33159Gly)
n.446+8581T>C
n.220-3515T>C
c.103495A>G (p.Arg34499Gly)
c.77389A>G (p.Arg25797Gly)
c.77248A>G (p.Arg25750Gly)
c.103291A>G (p.Arg34431Gly)
c.98689A>G (p.Arg32897Gly)
c.98686A>G (p.Arg32896Gly)
c.95728A>G (p.Arg31910Gly)
c.77344A>G (p.Arg25782Gly)
c.98839A>G (p.Arg32947Gly)
c.98836A>G (p.Arg32946Gly)
c.98269A>G (p.Arg32757Gly)
c.95611A>G (p.Arg31871Gly)
c.95530A>G (p.Arg31844Gly)
c.77293A>G (p.Arg25765Gly)
c.67147A>G (p.Arg22383Gly)
2g.178532217T>GCA430235936TTN,TTN-AS1c.96694A>C (p.Arg32232=)
c.77779A>C (p.Arg25927=)
c.77578A>C (p.Arg25860=)
c.77203A>C (p.Arg25735=)
c.104398A>C (p.Arg34800=)
c.99475A>C (p.Arg33159=)
n.446+8581T>G
n.220-3515T>G
c.103495A>C (p.Arg34499=)
c.77389A>C (p.Arg25797=)
c.77248A>C (p.Arg25750=)
c.103291A>C (p.Arg34431=)
c.98689A>C (p.Arg32897=)
c.98686A>C (p.Arg32896=)
c.95728A>C (p.Arg31910=)
c.77344A>C (p.Arg25782=)
c.98839A>C (p.Arg32947=)
c.98836A>C (p.Arg32946=)
c.98269A>C (p.Arg32757=)
c.95611A>C (p.Arg31871=)
c.95530A>C (p.Arg31844=)
c.77293A>C (p.Arg25765=)
c.67147A>C (p.Arg22383=)
2g.178532218A>CCA430235937TTN,TTN-AS1c.96693T>G (p.Ser32231=)
c.77778T>G (p.Ser25926=)
c.77577T>G (p.Ser25859=)
c.77202T>G (p.Ser25734=)
c.104397T>G (p.Ser34799=)
c.99474T>G (p.Ser33158=)
n.446+8582A>C
n.220-3514A>C
c.103494T>G (p.Ser34498=)
c.77388T>G (p.Ser25796=)
c.77247T>G (p.Ser25749=)
c.103290T>G (p.Ser34430=)
c.98688T>G (p.Ser32896=)
c.98685T>G (p.Ser32895=)
c.95727T>G (p.Ser31909=)
c.77343T>G (p.Ser25781=)
c.98838T>G (p.Ser32946=)
c.98835T>G (p.Ser32945=)
c.98268T>G (p.Ser32756=)
c.95610T>G (p.Ser31870=)
c.95529T>G (p.Ser31843=)
c.77292T>G (p.Ser25764=)
c.67146T>G (p.Ser22382=)
2g.178532218A>GCA430235938TTN,TTN-AS1c.96693T>C (p.Ser32231=)
c.77778T>C (p.Ser25926=)
c.77577T>C (p.Ser25859=)
c.77202T>C (p.Ser25734=)
c.104397T>C (p.Ser34799=)
c.99474T>C (p.Ser33158=)
n.446+8582A>G
n.220-3514A>G
c.103494T>C (p.Ser34498=)
c.77388T>C (p.Ser25796=)
c.77247T>C (p.Ser25749=)
c.103290T>C (p.Ser34430=)
c.98688T>C (p.Ser32896=)
c.98685T>C (p.Ser32895=)
c.95727T>C (p.Ser31909=)
c.77343T>C (p.Ser25781=)
c.98838T>C (p.Ser32946=)
c.98835T>C (p.Ser32945=)
c.98268T>C (p.Ser32756=)
c.95610T>C (p.Ser31870=)
c.95529T>C (p.Ser31843=)
c.77292T>C (p.Ser25764=)
c.67146T>C (p.Ser22382=)
2g.178532218A>TCA430235939TTN,TTN-AS1c.96693T>A (p.Ser32231=)
c.77778T>A (p.Ser25926=)
c.77577T>A (p.Ser25859=)
c.77202T>A (p.Ser25734=)
c.104397T>A (p.Ser34799=)
c.99474T>A (p.Ser33158=)
n.446+8582A>T
n.220-3514A>T
c.103494T>A (p.Ser34498=)
c.77388T>A (p.Ser25796=)
c.77247T>A (p.Ser25749=)
c.103290T>A (p.Ser34430=)
c.98688T>A (p.Ser32896=)
c.98685T>A (p.Ser32895=)
c.95727T>A (p.Ser31909=)
c.77343T>A (p.Ser25781=)
c.98838T>A (p.Ser32946=)
c.98835T>A (p.Ser32945=)
c.98268T>A (p.Ser32756=)
c.95610T>A (p.Ser31870=)
c.95529T>A (p.Ser31843=)
c.77292T>A (p.Ser25764=)
c.67146T>A (p.Ser22382=)
2g.178532219G>ACA349411824TTN,TTN-AS1c.96692C>T (p.Ser32231Phe)
c.77777C>T (p.Ser25926Phe)
c.77576C>T (p.Ser25859Phe)
c.77201C>T (p.Ser25734Phe)
c.104396C>T (p.Ser34799Phe)
c.99473C>T (p.Ser33158Phe)
n.446+8583G>A
n.220-3513G>A
c.103493C>T (p.Ser34498Phe)
c.77387C>T (p.Ser25796Phe)
c.77246C>T (p.Ser25749Phe)
c.103289C>T (p.Ser34430Phe)
c.98687C>T (p.Ser32896Phe)
c.98684C>T (p.Ser32895Phe)
c.95726C>T (p.Ser31909Phe)
c.77342C>T (p.Ser25781Phe)
c.98837C>T (p.Ser32946Phe)
c.98834C>T (p.Ser32945Phe)
c.98267C>T (p.Ser32756Phe)
c.95609C>T (p.Ser31870Phe)
c.95528C>T (p.Ser31843Phe)
c.77291C>T (p.Ser25764Phe)
c.67145C>T (p.Ser22382Phe)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178532219G>CCA349411823TTN,TTN-AS1c.96692C>G (p.Ser32231Cys)
c.77777C>G (p.Ser25926Cys)
c.77576C>G (p.Ser25859Cys)
c.77201C>G (p.Ser25734Cys)
c.104396C>G (p.Ser34799Cys)
c.99473C>G (p.Ser33158Cys)
n.446+8583G>C
n.220-3513G>C
c.103493C>G (p.Ser34498Cys)
c.77387C>G (p.Ser25796Cys)
c.77246C>G (p.Ser25749Cys)
c.103289C>G (p.Ser34430Cys)
c.98687C>G (p.Ser32896Cys)
c.98684C>G (p.Ser32895Cys)
c.95726C>G (p.Ser31909Cys)
c.77342C>G (p.Ser25781Cys)
c.98837C>G (p.Ser32946Cys)
c.98834C>G (p.Ser32945Cys)
c.98267C>G (p.Ser32756Cys)
c.95609C>G (p.Ser31870Cys)
c.95528C>G (p.Ser31843Cys)
c.77291C>G (p.Ser25764Cys)
c.67145C>G (p.Ser22382Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.178532219G=CA1310518129TTN,TTN-AS1c.96692C= (p.Ser32231=)
c.77777C= (p.Ser25926=)
c.77576C= (p.Ser25859=)
c.77201C= (p.Ser25734=)
c.104396C= (p.Ser34799=)
c.99473C= (p.Ser33158=)
n.446+8583G=
n.220-3513G=
c.103493C= (p.Ser34498=)
c.77387C= (p.Ser25796=)
c.77246C= (p.Ser25749=)
c.103289C= (p.Ser34430=)
c.98687C= (p.Ser32896=)
c.98684C= (p.Ser32895=)
c.95726C= (p.Ser31909=)
c.77342C= (p.Ser25781=)
c.98837C= (p.Ser32946=)
c.98834C= (p.Ser32945=)
c.98267C= (p.Ser32756=)
c.95609C= (p.Ser31870=)
c.95528C= (p.Ser31843=)
c.77291C= (p.Ser25764=)
c.67145C= (p.Ser22382=)
2g.178532219G>TCA349411822TTN,TTN-AS1c.96692C>A (p.Ser32231Tyr)
c.77777C>A (p.Ser25926Tyr)
c.77576C>A (p.Ser25859Tyr)
c.77201C>A (p.Ser25734Tyr)
c.104396C>A (p.Ser34799Tyr)
c.99473C>A (p.Ser33158Tyr)
n.446+8583G>T
n.220-3513G>T
c.103493C>A (p.Ser34498Tyr)
c.77387C>A (p.Ser25796Tyr)
c.77246C>A (p.Ser25749Tyr)
c.103289C>A (p.Ser34430Tyr)
c.98687C>A (p.Ser32896Tyr)
c.98684C>A (p.Ser32895Tyr)
c.95726C>A (p.Ser31909Tyr)
c.77342C>A (p.Ser25781Tyr)
c.98837C>A (p.Ser32946Tyr)
c.98834C>A (p.Ser32945Tyr)
c.98267C>A (p.Ser32756Tyr)
c.95609C>A (p.Ser31870Tyr)
c.95528C>A (p.Ser31843Tyr)
c.77291C>A (p.Ser25764Tyr)
c.67145C>A (p.Ser22382Tyr)
2g.178532220A>CCA349411827TTN,TTN-AS1c.96691T>G (p.Ser32231Ala)
c.77776T>G (p.Ser25926Ala)
c.77575T>G (p.Ser25859Ala)
c.77200T>G (p.Ser25734Ala)
c.104395T>G (p.Ser34799Ala)
c.99472T>G (p.Ser33158Ala)
n.446+8584A>C
n.220-3512A>C
c.103492T>G (p.Ser34498Ala)
c.77386T>G (p.Ser25796Ala)
c.77245T>G (p.Ser25749Ala)
c.103288T>G (p.Ser34430Ala)
c.98686T>G (p.Ser32896Ala)
c.98683T>G (p.Ser32895Ala)
c.95725T>G (p.Ser31909Ala)
c.77341T>G (p.Ser25781Ala)
c.98836T>G (p.Ser32946Ala)
c.98833T>G (p.Ser32945Ala)
c.98266T>G (p.Ser32756Ala)
c.95608T>G (p.Ser31870Ala)
c.95527T>G (p.Ser31843Ala)
c.77290T>G (p.Ser25764Ala)
c.67144T>G (p.Ser22382Ala)
2g.178532220A>GCA349411825TTN,TTN-AS1c.96691T>C (p.Ser32231Pro)
c.77776T>C (p.Ser25926Pro)
c.77575T>C (p.Ser25859Pro)
c.77200T>C (p.Ser25734Pro)
c.104395T>C (p.Ser34799Pro)
c.99472T>C (p.Ser33158Pro)
n.446+8584A>G
n.220-3512A>G
c.103492T>C (p.Ser34498Pro)
c.77386T>C (p.Ser25796Pro)
c.77245T>C (p.Ser25749Pro)
c.103288T>C (p.Ser34430Pro)
c.98686T>C (p.Ser32896Pro)
c.98683T>C (p.Ser32895Pro)
c.95725T>C (p.Ser31909Pro)
c.77341T>C (p.Ser25781Pro)
c.98836T>C (p.Ser32946Pro)
c.98833T>C (p.Ser32945Pro)
c.98266T>C (p.Ser32756Pro)
c.95608T>C (p.Ser31870Pro)
c.95527T>C (p.Ser31843Pro)
c.77290T>C (p.Ser25764Pro)
c.67144T>C (p.Ser22382Pro)
2g.178532220A>TCA349411826TTN,TTN-AS1c.96691T>A (p.Ser32231Thr)
c.77776T>A (p.Ser25926Thr)
c.77575T>A (p.Ser25859Thr)
c.77200T>A (p.Ser25734Thr)
c.104395T>A (p.Ser34799Thr)
c.99472T>A (p.Ser33158Thr)
n.446+8584A>T
n.220-3512A>T
c.103492T>A (p.Ser34498Thr)
c.77386T>A (p.Ser25796Thr)
c.77245T>A (p.Ser25749Thr)
c.103288T>A (p.Ser34430Thr)
c.98686T>A (p.Ser32896Thr)
c.98683T>A (p.Ser32895Thr)
c.95725T>A (p.Ser31909Thr)
c.77341T>A (p.Ser25781Thr)
c.98836T>A (p.Ser32946Thr)
c.98833T>A (p.Ser32945Thr)
c.98266T>A (p.Ser32756Thr)
c.95608T>A (p.Ser31870Thr)
c.95527T>A (p.Ser31843Thr)
c.77290T>A (p.Ser25764Thr)
c.67144T>A (p.Ser22382Thr)
2g.178532221C>ACA349411828TTN,TTN-AS1c.96690G>T (p.Lys32230Asn)
c.77775G>T (p.Lys25925Asn)
c.77574G>T (p.Lys25858Asn)
c.77199G>T (p.Lys25733Asn)
c.104394G>T (p.Lys34798Asn)
c.99471G>T (p.Lys33157Asn)
n.446+8585C>A
n.220-3511C>A
c.103491G>T (p.Lys34497Asn)
c.77385G>T (p.Lys25795Asn)
c.77244G>T (p.Lys25748Asn)
c.103287G>T (p.Lys34429Asn)
c.98685G>T (p.Lys32895Asn)
c.98682G>T (p.Lys32894Asn)
c.95724G>T (p.Lys31908Asn)
c.77340G>T (p.Lys25780Asn)
c.98835G>T (p.Lys32945Asn)
c.98832G>T (p.Lys32944Asn)
c.98265G>T (p.Lys32755Asn)
c.95607G>T (p.Lys31869Asn)
c.95526G>T (p.Lys31842Asn)
c.77289G>T (p.Lys25763Asn)
c.67143G>T (p.Lys22381Asn)
2g.178532221C>GCA349411829TTN,TTN-AS1c.96690G>C (p.Lys32230Asn)
c.77775G>C (p.Lys25925Asn)
c.77574G>C (p.Lys25858Asn)
c.77199G>C (p.Lys25733Asn)
c.104394G>C (p.Lys34798Asn)
c.99471G>C (p.Lys33157Asn)
n.446+8585C>G
n.220-3511C>G
c.103491G>C (p.Lys34497Asn)
c.77385G>C (p.Lys25795Asn)
c.77244G>C (p.Lys25748Asn)
c.103287G>C (p.Lys34429Asn)
c.98685G>C (p.Lys32895Asn)
c.98682G>C (p.Lys32894Asn)
c.95724G>C (p.Lys31908Asn)
c.77340G>C (p.Lys25780Asn)
c.98835G>C (p.Lys32945Asn)
c.98832G>C (p.Lys32944Asn)
c.98265G>C (p.Lys32755Asn)
c.95607G>C (p.Lys31869Asn)
c.95526G>C (p.Lys31842Asn)
c.77289G>C (p.Lys25763Asn)
c.67143G>C (p.Lys22381Asn)
2g.178532221C>TCA430235940TTN,TTN-AS1c.96690G>A (p.Lys32230=)
c.77775G>A (p.Lys25925=)
c.77574G>A (p.Lys25858=)
c.77199G>A (p.Lys25733=)
c.104394G>A (p.Lys34798=)
c.99471G>A (p.Lys33157=)
n.446+8585C>T
n.220-3511C>T
c.103491G>A (p.Lys34497=)
c.77385G>A (p.Lys25795=)
c.77244G>A (p.Lys25748=)
c.103287G>A (p.Lys34429=)
c.98685G>A (p.Lys32895=)
c.98682G>A (p.Lys32894=)
c.95724G>A (p.Lys31908=)
c.77340G>A (p.Lys25780=)
c.98835G>A (p.Lys32945=)
c.98832G>A (p.Lys32944=)
c.98265G>A (p.Lys32755=)
c.95607G>A (p.Lys31869=)
c.95526G>A (p.Lys31842=)
c.77289G>A (p.Lys25763=)
c.67143G>A (p.Lys22381=)
2g.178532222T>ACA349411830TTN,TTN-AS1c.96689A>T (p.Lys32230Met)
c.77774A>T (p.Lys25925Met)
c.77573A>T (p.Lys25858Met)
c.77198A>T (p.Lys25733Met)
c.104393A>T (p.Lys34798Met)
c.99470A>T (p.Lys33157Met)
n.446+8586T>A
n.220-3510T>A
c.103490A>T (p.Lys34497Met)
c.77384A>T (p.Lys25795Met)
c.77243A>T (p.Lys25748Met)
c.103286A>T (p.Lys34429Met)
c.98684A>T (p.Lys32895Met)
c.98681A>T (p.Lys32894Met)
c.95723A>T (p.Lys31908Met)
c.77339A>T (p.Lys25780Met)
c.98834A>T (p.Lys32945Met)
c.98831A>T (p.Lys32944Met)
c.98264A>T (p.Lys32755Met)
c.95606A>T (p.Lys31869Met)
c.95525A>T (p.Lys31842Met)
c.77288A>T (p.Lys25763Met)
c.67142A>T (p.Lys22381Met)
 dbSNP
2g.178532222T>CCA349411831TTN,TTN-AS1c.96689A>G (p.Lys32230Arg)
c.77774A>G (p.Lys25925Arg)
c.77573A>G (p.Lys25858Arg)
c.77198A>G (p.Lys25733Arg)
c.104393A>G (p.Lys34798Arg)
c.99470A>G (p.Lys33157Arg)
n.446+8586T>C
n.220-3510T>C
c.103490A>G (p.Lys34497Arg)
c.77384A>G (p.Lys25795Arg)
c.77243A>G (p.Lys25748Arg)
c.103286A>G (p.Lys34429Arg)
c.98684A>G (p.Lys32895Arg)
c.98681A>G (p.Lys32894Arg)
c.95723A>G (p.Lys31908Arg)
c.77339A>G (p.Lys25780Arg)
c.98834A>G (p.Lys32945Arg)
c.98831A>G (p.Lys32944Arg)
c.98264A>G (p.Lys32755Arg)
c.95606A>G (p.Lys31869Arg)
c.95525A>G (p.Lys31842Arg)
c.77288A>G (p.Lys25763Arg)
c.67142A>G (p.Lys22381Arg)
2g.178532222T>GCA349411832TTN,TTN-AS1c.96689A>C (p.Lys32230Thr)
c.77774A>C (p.Lys25925Thr)
c.77573A>C (p.Lys25858Thr)
c.77198A>C (p.Lys25733Thr)
c.104393A>C (p.Lys34798Thr)
c.99470A>C (p.Lys33157Thr)
n.446+8586T>G
n.220-3510T>G
c.103490A>C (p.Lys34497Thr)
c.77384A>C (p.Lys25795Thr)
c.77243A>C (p.Lys25748Thr)
c.103286A>C (p.Lys34429Thr)
c.98684A>C (p.Lys32895Thr)
c.98681A>C (p.Lys32894Thr)
c.95723A>C (p.Lys31908Thr)
c.77339A>C (p.Lys25780Thr)
c.98834A>C (p.Lys32945Thr)
c.98831A>C (p.Lys32944Thr)
c.98264A>C (p.Lys32755Thr)
c.95606A>C (p.Lys31869Thr)
c.95525A>C (p.Lys31842Thr)
c.77288A>C (p.Lys25763Thr)
c.67142A>C (p.Lys22381Thr)
 ClinVar
2g.178532222T=CA1310518130TTN,TTN-AS1c.96689A= (p.Lys32230=)
c.77774A= (p.Lys25925=)
c.77573A= (p.Lys25858=)
c.77198A= (p.Lys25733=)
c.104393A= (p.Lys34798=)
c.99470A= (p.Lys33157=)
n.446+8586T=
n.220-3510T=
c.103490A= (p.Lys34497=)
c.77384A= (p.Lys25795=)
c.77243A= (p.Lys25748=)
c.103286A= (p.Lys34429=)
c.98684A= (p.Lys32895=)
c.98681A= (p.Lys32894=)
c.95723A= (p.Lys31908=)
c.77339A= (p.Lys25780=)
c.98834A= (p.Lys32945=)
c.98831A= (p.Lys32944=)
c.98264A= (p.Lys32755=)
c.95606A= (p.Lys31869=)
c.95525A= (p.Lys31842=)
c.77288A= (p.Lys25763=)
c.67142A= (p.Lys22381=)
2g.178532225delCA2580064616TTN,TTN-AS1c.96689del (p.Lys32230SerfsTer12)
c.77774del (p.Lys25925SerfsTer12)
c.77573del (p.Lys25858SerfsTer12)
c.77198del (p.Lys25733SerfsTer12)
c.104393del (p.Lys34798SerfsTer12)
c.99470del (p.Lys33157SerfsTer12)
n.446+8589del
n.220-3507del
c.103490del (p.Lys34497SerfsTer12)
c.77384del (p.Lys25795SerfsTer12)
c.77243del (p.Lys25748SerfsTer12)
c.103286del (p.Lys34429SerfsTer12)
c.98684del (p.Lys32895SerfsTer12)
c.98681del (p.Lys32894SerfsTer12)
c.95723del (p.Lys31908SerfsTer12)
c.77339del (p.Lys25780SerfsTer12)
c.98834del (p.Lys32945SerfsTer12)
c.98831del (p.Lys32944SerfsTer12)
c.98264del (p.Lys32755SerfsTer12)
c.95606del (p.Lys31869SerfsTer12)
c.95525del (p.Lys31842SerfsTer12)
c.77288del (p.Lys25763SerfsTer12)
c.67142del (p.Lys22381SerfsTer12)
 ClinVar
2g.178532223T>ACA349411835TTN,TTN-AS1c.96688A>T (p.Lys32230Ter)
c.77773A>T (p.Lys25925Ter)
c.77572A>T (p.Lys25858Ter)
c.77197A>T (p.Lys25733Ter)
c.104392A>T (p.Lys34798Ter)
c.99469A>T (p.Lys33157Ter)
n.446+8587T>A
n.220-3509T>A
c.103489A>T (p.Lys34497Ter)
c.77383A>T (p.Lys25795Ter)
c.77242A>T (p.Lys25748Ter)
c.103285A>T (p.Lys34429Ter)
c.98683A>T (p.Lys32895Ter)
c.98680A>T (p.Lys32894Ter)
c.95722A>T (p.Lys31908Ter)
c.77338A>T (p.Lys25780Ter)
c.98833A>T (p.Lys32945Ter)
c.98830A>T (p.Lys32944Ter)
c.98263A>T (p.Lys32755Ter)
c.95605A>T (p.Lys31869Ter)
c.95524A>T (p.Lys31842Ter)
c.77287A>T (p.Lys25763Ter)
c.67141A>T (p.Lys22381Ter)
2g.178532223T>CCA349411833TTN,TTN-AS1c.96688A>G (p.Lys32230Glu)
c.77773A>G (p.Lys25925Glu)
c.77572A>G (p.Lys25858Glu)
c.77197A>G (p.Lys25733Glu)
c.104392A>G (p.Lys34798Glu)
c.99469A>G (p.Lys33157Glu)
n.446+8587T>C
n.220-3509T>C
c.103489A>G (p.Lys34497Glu)
c.77383A>G (p.Lys25795Glu)
c.77242A>G (p.Lys25748Glu)
c.103285A>G (p.Lys34429Glu)
c.98683A>G (p.Lys32895Glu)
c.98680A>G (p.Lys32894Glu)
c.95722A>G (p.Lys31908Glu)
c.77338A>G (p.Lys25780Glu)
c.98833A>G (p.Lys32945Glu)
c.98830A>G (p.Lys32944Glu)
c.98263A>G (p.Lys32755Glu)
c.95605A>G (p.Lys31869Glu)
c.95524A>G (p.Lys31842Glu)
c.77287A>G (p.Lys25763Glu)
c.67141A>G (p.Lys22381Glu)
2g.178532223T>GCA349411834TTN,TTN-AS1c.96688A>C (p.Lys32230Gln)
c.77773A>C (p.Lys25925Gln)
c.77572A>C (p.Lys25858Gln)
c.77197A>C (p.Lys25733Gln)
c.104392A>C (p.Lys34798Gln)
c.99469A>C (p.Lys33157Gln)
n.446+8587T>G
n.220-3509T>G
c.103489A>C (p.Lys34497Gln)
c.77383A>C (p.Lys25795Gln)
c.77242A>C (p.Lys25748Gln)
c.103285A>C (p.Lys34429Gln)
c.98683A>C (p.Lys32895Gln)
c.98680A>C (p.Lys32894Gln)
c.95722A>C (p.Lys31908Gln)
c.77338A>C (p.Lys25780Gln)
c.98833A>C (p.Lys32945Gln)
c.98830A>C (p.Lys32944Gln)
c.98263A>C (p.Lys32755Gln)
c.95605A>C (p.Lys31869Gln)
c.95524A>C (p.Lys31842Gln)
c.77287A>C (p.Lys25763Gln)
c.67141A>C (p.Lys22381Gln)
2g.178532224T>ACA349411836TTN,TTN-AS1c.96687A>T (p.Glu32229Asp)
c.77772A>T (p.Glu25924Asp)
c.77571A>T (p.Glu25857Asp)
c.77196A>T (p.Glu25732Asp)
c.104391A>T (p.Glu34797Asp)
c.99468A>T (p.Glu33156Asp)
n.446+8588T>A
n.220-3508T>A
c.103488A>T (p.Glu34496Asp)
c.77382A>T (p.Glu25794Asp)
c.77241A>T (p.Glu25747Asp)
c.103284A>T (p.Glu34428Asp)
c.98682A>T (p.Glu32894Asp)
c.98679A>T (p.Glu32893Asp)
c.95721A>T (p.Glu31907Asp)
c.77337A>T (p.Glu25779Asp)
c.98832A>T (p.Glu32944Asp)
c.98829A>T (p.Glu32943Asp)
c.98262A>T (p.Glu32754Asp)
c.95604A>T (p.Glu31868Asp)
c.95523A>T (p.Glu31841Asp)
c.77286A>T (p.Glu25762Asp)
c.67140A>T (p.Glu22380Asp)
2g.178532224T>CCA430235941TTN,TTN-AS1c.96687A>G (p.Glu32229=)
c.77772A>G (p.Glu25924=)
c.77571A>G (p.Glu25857=)
c.77196A>G (p.Glu25732=)
c.104391A>G (p.Glu34797=)
c.99468A>G (p.Glu33156=)
n.446+8588T>C
n.220-3508T>C
c.103488A>G (p.Glu34496=)
c.77382A>G (p.Glu25794=)
c.77241A>G (p.Glu25747=)
c.103284A>G (p.Glu34428=)
c.98682A>G (p.Glu32894=)
c.98679A>G (p.Glu32893=)
c.95721A>G (p.Glu31907=)
c.77337A>G (p.Glu25779=)
c.98832A>G (p.Glu32944=)
c.98829A>G (p.Glu32943=)
c.98262A>G (p.Glu32754=)
c.95604A>G (p.Glu31868=)
c.95523A>G (p.Glu31841=)
c.77286A>G (p.Glu25762=)
c.67140A>G (p.Glu22380=)
2g.178532224T>GCA349411837TTN,TTN-AS1c.96687A>C (p.Glu32229Asp)
c.77772A>C (p.Glu25924Asp)
c.77571A>C (p.Glu25857Asp)
c.77196A>C (p.Glu25732Asp)
c.104391A>C (p.Glu34797Asp)
c.99468A>C (p.Glu33156Asp)
n.446+8588T>G
n.220-3508T>G
c.103488A>C (p.Glu34496Asp)
c.77382A>C (p.Glu25794Asp)
c.77241A>C (p.Glu25747Asp)
c.103284A>C (p.Glu34428Asp)
c.98682A>C (p.Glu32894Asp)
c.98679A>C (p.Glu32893Asp)
c.95721A>C (p.Glu31907Asp)
c.77337A>C (p.Glu25779Asp)
c.98832A>C (p.Glu32944Asp)
c.98829A>C (p.Glu32943Asp)
c.98262A>C (p.Glu32754Asp)
c.95604A>C (p.Glu31868Asp)
c.95523A>C (p.Glu31841Asp)
c.77286A>C (p.Glu25762Asp)
c.67140A>C (p.Glu22380Asp)
2g.178532225T>ACA349411838TTN,TTN-AS1c.96686A>T (p.Glu32229Val)
c.77771A>T (p.Glu25924Val)
c.77570A>T (p.Glu25857Val)
c.77195A>T (p.Glu25732Val)
c.104390A>T (p.Glu34797Val)
c.99467A>T (p.Glu33156Val)
n.446+8589T>A
n.220-3507T>A
c.103487A>T (p.Glu34496Val)
c.77381A>T (p.Glu25794Val)
c.77240A>T (p.Glu25747Val)
c.103283A>T (p.Glu34428Val)
c.98681A>T (p.Glu32894Val)
c.98678A>T (p.Glu32893Val)
c.95720A>T (p.Glu31907Val)
c.77336A>T (p.Glu25779Val)
c.98831A>T (p.Glu32944Val)
c.98828A>T (p.Glu32943Val)
c.98261A>T (p.Glu32754Val)
c.95603A>T (p.Glu31868Val)
c.95522A>T (p.Glu31841Val)
c.77285A>T (p.Glu25762Val)
c.67139A>T (p.Glu22380Val)
2g.178532225T>CCA349411839TTN,TTN-AS1c.96686A>G (p.Glu32229Gly)
c.77771A>G (p.Glu25924Gly)
c.77570A>G (p.Glu25857Gly)
c.77195A>G (p.Glu25732Gly)
c.104390A>G (p.Glu34797Gly)
c.99467A>G (p.Glu33156Gly)
n.446+8589T>C
n.220-3507T>C
c.103487A>G (p.Glu34496Gly)
c.77381A>G (p.Glu25794Gly)
c.77240A>G (p.Glu25747Gly)
c.103283A>G (p.Glu34428Gly)
c.98681A>G (p.Glu32894Gly)
c.98678A>G (p.Glu32893Gly)
c.95720A>G (p.Glu31907Gly)
c.77336A>G (p.Glu25779Gly)
c.98831A>G (p.Glu32944Gly)
c.98828A>G (p.Glu32943Gly)
c.98261A>G (p.Glu32754Gly)
c.95603A>G (p.Glu31868Gly)
c.95522A>G (p.Glu31841Gly)
c.77285A>G (p.Glu25762Gly)
c.67139A>G (p.Glu22380Gly)
2g.178532225T>GCA60956253TTN,TTN-AS1c.96686A>C (p.Glu32229Ala)
c.77771A>C (p.Glu25924Ala)
c.77570A>C (p.Glu25857Ala)
c.77195A>C (p.Glu25732Ala)
c.104390A>C (p.Glu34797Ala)
c.99467A>C (p.Glu33156Ala)
n.446+8589T>G
n.220-3507T>G
c.103487A>C (p.Glu34496Ala)
c.77381A>C (p.Glu25794Ala)
c.77240A>C (p.Glu25747Ala)
c.103283A>C (p.Glu34428Ala)
c.98681A>C (p.Glu32894Ala)
c.98678A>C (p.Glu32893Ala)
c.95720A>C (p.Glu31907Ala)
c.77336A>C (p.Glu25779Ala)
c.98831A>C (p.Glu32944Ala)
c.98828A>C (p.Glu32943Ala)
c.98261A>C (p.Glu32754Ala)
c.95603A>C (p.Glu31868Ala)
c.95522A>C (p.Glu31841Ala)
c.77285A>C (p.Glu25762Ala)
c.67139A>C (p.Glu22380Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178532225T=CA1310518131TTN,TTN-AS1c.96686A= (p.Glu32229=)
c.77771A= (p.Glu25924=)
c.77570A= (p.Glu25857=)
c.77195A= (p.Glu25732=)
c.104390A= (p.Glu34797=)
c.99467A= (p.Glu33156=)
n.446+8589T=
n.220-3507T=
c.103487A= (p.Glu34496=)
c.77381A= (p.Glu25794=)
c.77240A= (p.Glu25747=)
c.103283A= (p.Glu34428=)
c.98681A= (p.Glu32894=)
c.98678A= (p.Glu32893=)
c.95720A= (p.Glu31907=)
c.77336A= (p.Glu25779=)
c.98831A= (p.Glu32944=)
c.98828A= (p.Glu32943=)
c.98261A= (p.Glu32754=)
c.95603A= (p.Glu31868=)
c.95522A= (p.Glu31841=)
c.77285A= (p.Glu25762=)
c.67139A= (p.Glu22380=)
2g.178532226C>ACA349411842TTN,TTN-AS1c.96685G>T (p.Glu32229Ter)
c.77770G>T (p.Glu25924Ter)
c.77569G>T (p.Glu25857Ter)
c.77194G>T (p.Glu25732Ter)
c.104389G>T (p.Glu34797Ter)
c.99466G>T (p.Glu33156Ter)
n.446+8590C>A
n.220-3506C>A
c.103486G>T (p.Glu34496Ter)
c.77380G>T (p.Glu25794Ter)
c.77239G>T (p.Glu25747Ter)
c.103282G>T (p.Glu34428Ter)
c.98680G>T (p.Glu32894Ter)
c.98677G>T (p.Glu32893Ter)
c.95719G>T (p.Glu31907Ter)
c.77335G>T (p.Glu25779Ter)
c.98830G>T (p.Glu32944Ter)
c.98827G>T (p.Glu32943Ter)
c.98260G>T (p.Glu32754Ter)
c.95602G>T (p.Glu31868Ter)
c.95521G>T (p.Glu31841Ter)
c.77284G>T (p.Glu25762Ter)
c.67138G>T (p.Glu22380Ter)
2g.178532226C=CA1310518132TTN,TTN-AS1c.96685G= (p.Glu32229=)
c.77770G= (p.Glu25924=)
c.77569G= (p.Glu25857=)
c.77194G= (p.Glu25732=)
c.104389G= (p.Glu34797=)
c.99466G= (p.Glu33156=)
n.446+8590C=
n.220-3506C=
c.103486G= (p.Glu34496=)
c.77380G= (p.Glu25794=)
c.77239G= (p.Glu25747=)
c.103282G= (p.Glu34428=)
c.98680G= (p.Glu32894=)
c.98677G= (p.Glu32893=)
c.95719G= (p.Glu31907=)
c.77335G= (p.Glu25779=)
c.98830G= (p.Glu32944=)
c.98827G= (p.Glu32943=)
c.98260G= (p.Glu32754=)
c.95602G= (p.Glu31868=)
c.95521G= (p.Glu31841=)
c.77284G= (p.Glu25762=)
c.67138G= (p.Glu22380=)
2g.178532226C>GCA349411840TTN,TTN-AS1c.96685G>C (p.Glu32229Gln)
c.77770G>C (p.Glu25924Gln)
c.77569G>C (p.Glu25857Gln)
c.77194G>C (p.Glu25732Gln)
c.104389G>C (p.Glu34797Gln)
c.99466G>C (p.Glu33156Gln)
n.446+8590C>G
n.220-3506C>G
c.103486G>C (p.Glu34496Gln)
c.77380G>C (p.Glu25794Gln)
c.77239G>C (p.Glu25747Gln)
c.103282G>C (p.Glu34428Gln)
c.98680G>C (p.Glu32894Gln)
c.98677G>C (p.Glu32893Gln)
c.95719G>C (p.Glu31907Gln)
c.77335G>C (p.Glu25779Gln)
c.98830G>C (p.Glu32944Gln)
c.98827G>C (p.Glu32943Gln)
c.98260G>C (p.Glu32754Gln)
c.95602G>C (p.Glu31868Gln)
c.95521G>C (p.Glu31841Gln)
c.77284G>C (p.Glu25762Gln)
c.67138G>C (p.Glu22380Gln)
 COSMIC COSMIC COSMIC COSMIC
2g.178532226C>TCA349411841TTN,TTN-AS1c.96685G>A (p.Glu32229Lys)
c.77770G>A (p.Glu25924Lys)
c.77569G>A (p.Glu25857Lys)
c.77194G>A (p.Glu25732Lys)
c.104389G>A (p.Glu34797Lys)
c.99466G>A (p.Glu33156Lys)
n.446+8590C>T
n.220-3506C>T
c.103486G>A (p.Glu34496Lys)
c.77380G>A (p.Glu25794Lys)
c.77239G>A (p.Glu25747Lys)
c.103282G>A (p.Glu34428Lys)
c.98680G>A (p.Glu32894Lys)
c.98677G>A (p.Glu32893Lys)
c.95719G>A (p.Glu31907Lys)
c.77335G>A (p.Glu25779Lys)
c.98830G>A (p.Glu32944Lys)
c.98827G>A (p.Glu32943Lys)
c.98260G>A (p.Glu32754Lys)
c.95602G>A (p.Glu31868Lys)
c.95521G>A (p.Glu31841Lys)
c.77284G>A (p.Glu25762Lys)
c.67138G>A (p.Glu22380Lys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178532227C>ACA349411843TTN,TTN-AS1c.96684G>T (p.Glu32228Asp)
c.77769G>T (p.Glu25923Asp)
c.77568G>T (p.Glu25856Asp)
c.77193G>T (p.Glu25731Asp)
c.104388G>T (p.Glu34796Asp)
c.99465G>T (p.Glu33155Asp)
n.446+8591C>A
n.220-3505C>A
c.103485G>T (p.Glu34495Asp)
c.77379G>T (p.Glu25793Asp)
c.77238G>T (p.Glu25746Asp)
c.103281G>T (p.Glu34427Asp)
c.98679G>T (p.Glu32893Asp)
c.98676G>T (p.Glu32892Asp)
c.95718G>T (p.Glu31906Asp)
c.77334G>T (p.Glu25778Asp)
c.98829G>T (p.Glu32943Asp)
c.98826G>T (p.Glu32942Asp)
c.98259G>T (p.Glu32753Asp)
c.95601G>T (p.Glu31867Asp)
c.95520G>T (p.Glu31840Asp)
c.77283G>T (p.Glu25761Asp)
c.67137G>T (p.Glu22379Asp)
2g.178532227C>GCA349411844TTN,TTN-AS1c.96684G>C (p.Glu32228Asp)
c.77769G>C (p.Glu25923Asp)
c.77568G>C (p.Glu25856Asp)
c.77193G>C (p.Glu25731Asp)
c.104388G>C (p.Glu34796Asp)
c.99465G>C (p.Glu33155Asp)
n.446+8591C>G
n.220-3505C>G
c.103485G>C (p.Glu34495Asp)
c.77379G>C (p.Glu25793Asp)
c.77238G>C (p.Glu25746Asp)
c.103281G>C (p.Glu34427Asp)
c.98679G>C (p.Glu32893Asp)
c.98676G>C (p.Glu32892Asp)
c.95718G>C (p.Glu31906Asp)
c.77334G>C (p.Glu25778Asp)
c.98829G>C (p.Glu32943Asp)
c.98826G>C (p.Glu32942Asp)
c.98259G>C (p.Glu32753Asp)
c.95601G>C (p.Glu31867Asp)
c.95520G>C (p.Glu31840Asp)
c.77283G>C (p.Glu25761Asp)
c.67137G>C (p.Glu22379Asp)
 gnomAD v4
2g.178532227C>TCA430235942TTN,TTN-AS1c.96684G>A (p.Glu32228=)
c.77769G>A (p.Glu25923=)
c.77568G>A (p.Glu25856=)
c.77193G>A (p.Glu25731=)
c.104388G>A (p.Glu34796=)
c.99465G>A (p.Glu33155=)
n.446+8591C>T
n.220-3505C>T
c.103485G>A (p.Glu34495=)
c.77379G>A (p.Glu25793=)
c.77238G>A (p.Glu25746=)
c.103281G>A (p.Glu34427=)
c.98679G>A (p.Glu32893=)
c.98676G>A (p.Glu32892=)
c.95718G>A (p.Glu31906=)
c.77334G>A (p.Glu25778=)
c.98829G>A (p.Glu32943=)
c.98826G>A (p.Glu32942=)
c.98259G>A (p.Glu32753=)
c.95601G>A (p.Glu31867=)
c.95520G>A (p.Glu31840=)
c.77283G>A (p.Glu25761=)
c.67137G>A (p.Glu22379=)
2g.178532228T>ACA349411845TTN,TTN-AS1c.96683A>T (p.Glu32228Val)
c.77768A>T (p.Glu25923Val)
c.77567A>T (p.Glu25856Val)
c.77192A>T (p.Glu25731Val)
c.104387A>T (p.Glu34796Val)
c.99464A>T (p.Glu33155Val)
n.446+8592T>A
n.220-3504T>A
c.103484A>T (p.Glu34495Val)
c.77378A>T (p.Glu25793Val)
c.77237A>T (p.Glu25746Val)
c.103280A>T (p.Glu34427Val)
c.98678A>T (p.Glu32893Val)
c.98675A>T (p.Glu32892Val)
c.95717A>T (p.Glu31906Val)
c.77333A>T (p.Glu25778Val)
c.98828A>T (p.Glu32943Val)
c.98825A>T (p.Glu32942Val)
c.98258A>T (p.Glu32753Val)
c.95600A>T (p.Glu31867Val)
c.95519A>T (p.Glu31840Val)
c.77282A>T (p.Glu25761Val)
c.67136A>T (p.Glu22379Val)
2g.178532228T>CCA349411846TTN,TTN-AS1c.96683A>G (p.Glu32228Gly)
c.77768A>G (p.Glu25923Gly)
c.77567A>G (p.Glu25856Gly)
c.77192A>G (p.Glu25731Gly)
c.104387A>G (p.Glu34796Gly)
c.99464A>G (p.Glu33155Gly)
n.446+8592T>C
n.220-3504T>C
c.103484A>G (p.Glu34495Gly)
c.77378A>G (p.Glu25793Gly)
c.77237A>G (p.Glu25746Gly)
c.103280A>G (p.Glu34427Gly)
c.98678A>G (p.Glu32893Gly)
c.98675A>G (p.Glu32892Gly)
c.95717A>G (p.Glu31906Gly)
c.77333A>G (p.Glu25778Gly)
c.98828A>G (p.Glu32943Gly)
c.98825A>G (p.Glu32942Gly)
c.98258A>G (p.Glu32753Gly)
c.95600A>G (p.Glu31867Gly)
c.95519A>G (p.Glu31840Gly)
c.77282A>G (p.Glu25761Gly)
c.67136A>G (p.Glu22379Gly)
2g.178532228T>GCA349411847TTN,TTN-AS1c.96683A>C (p.Glu32228Ala)
c.77768A>C (p.Glu25923Ala)
c.77567A>C (p.Glu25856Ala)
c.77192A>C (p.Glu25731Ala)
c.104387A>C (p.Glu34796Ala)
c.99464A>C (p.Glu33155Ala)
n.446+8592T>G
n.220-3504T>G
c.103484A>C (p.Glu34495Ala)
c.77378A>C (p.Glu25793Ala)
c.77237A>C (p.Glu25746Ala)
c.103280A>C (p.Glu34427Ala)
c.98678A>C (p.Glu32893Ala)
c.98675A>C (p.Glu32892Ala)
c.95717A>C (p.Glu31906Ala)
c.77333A>C (p.Glu25778Ala)
c.98828A>C (p.Glu32943Ala)
c.98825A>C (p.Glu32942Ala)
c.98258A>C (p.Glu32753Ala)
c.95600A>C (p.Glu31867Ala)
c.95519A>C (p.Glu31840Ala)
c.77282A>C (p.Glu25761Ala)
c.67136A>C (p.Glu22379Ala)
2g.178532229C>ACA349411850TTN,TTN-AS1c.96682G>T (p.Glu32228Ter)
c.77767G>T (p.Glu25923Ter)
c.77566G>T (p.Glu25856Ter)
c.77191G>T (p.Glu25731Ter)
c.104386G>T (p.Glu34796Ter)
c.99463G>T (p.Glu33155Ter)
n.446+8593C>A
n.220-3503C>A
c.103483G>T (p.Glu34495Ter)
c.77377G>T (p.Glu25793Ter)
c.77236G>T (p.Glu25746Ter)
c.103279G>T (p.Glu34427Ter)
c.98677G>T (p.Glu32893Ter)
c.98674G>T (p.Glu32892Ter)
c.95716G>T (p.Glu31906Ter)
c.77332G>T (p.Glu25778Ter)
c.98827G>T (p.Glu32943Ter)
c.98824G>T (p.Glu32942Ter)
c.98257G>T (p.Glu32753Ter)
c.95599G>T (p.Glu31867Ter)
c.95518G>T (p.Glu31840Ter)
c.77281G>T (p.Glu25761Ter)
c.67135G>T (p.Glu22379Ter)
2g.178532229C>GCA349411849TTN,TTN-AS1c.96682G>C (p.Glu32228Gln)
c.77767G>C (p.Glu25923Gln)
c.77566G>C (p.Glu25856Gln)
c.77191G>C (p.Glu25731Gln)
c.104386G>C (p.Glu34796Gln)
c.99463G>C (p.Glu33155Gln)
n.446+8593C>G
n.220-3503C>G
c.103483G>C (p.Glu34495Gln)
c.77377G>C (p.Glu25793Gln)
c.77236G>C (p.Glu25746Gln)
c.103279G>C (p.Glu34427Gln)
c.98677G>C (p.Glu32893Gln)
c.98674G>C (p.Glu32892Gln)
c.95716G>C (p.Glu31906Gln)
c.77332G>C (p.Glu25778Gln)
c.98827G>C (p.Glu32943Gln)
c.98824G>C (p.Glu32942Gln)
c.98257G>C (p.Glu32753Gln)
c.95599G>C (p.Glu31867Gln)
c.95518G>C (p.Glu31840Gln)
c.77281G>C (p.Glu25761Gln)
c.67135G>C (p.Glu22379Gln)
2g.178532229C>TCA349411848TTN,TTN-AS1c.96682G>A (p.Glu32228Lys)
c.77767G>A (p.Glu25923Lys)
c.77566G>A (p.Glu25856Lys)
c.77191G>A (p.Glu25731Lys)
c.104386G>A (p.Glu34796Lys)
c.99463G>A (p.Glu33155Lys)
n.446+8593C>T
n.220-3503C>T
c.103483G>A (p.Glu34495Lys)
c.77377G>A (p.Glu25793Lys)
c.77236G>A (p.Glu25746Lys)
c.103279G>A (p.Glu34427Lys)
c.98677G>A (p.Glu32893Lys)
c.98674G>A (p.Glu32892Lys)
c.95716G>A (p.Glu31906Lys)
c.77332G>A (p.Glu25778Lys)
c.98827G>A (p.Glu32943Lys)
c.98824G>A (p.Glu32942Lys)
c.98257G>A (p.Glu32753Lys)
c.95599G>A (p.Glu31867Lys)
c.95518G>A (p.Glu31840Lys)
c.77281G>A (p.Glu25761Lys)
c.67135G>A (p.Glu22379Lys)
 COSMIC COSMIC COSMIC COSMIC
2g.178532229_178532232delinsCCTTCA1310518133TTN,TTN-AS1c.96679_96682delinsAAGG (p.Lys32227=)
c.77764_77767delinsAAGG (p.Lys25922=)
c.77563_77566delinsAAGG (p.Lys25855=)
c.77188_77191delinsAAGG (p.Lys25730=)
c.104383_104386delinsAAGG (p.Lys34795=)
c.99460_99463delinsAAGG (p.Lys33154=)
n.446+8593_446+8596delinsCCTT
n.220-3503_220-3500delinsCCTT
c.103480_103483delinsAAGG (p.Lys34494=)
c.77374_77377delinsAAGG (p.Lys25792=)
c.77233_77236delinsAAGG (p.Lys25745=)
c.103276_103279delinsAAGG (p.Lys34426=)
c.98674_98677delinsAAGG (p.Lys32892=)
c.98671_98674delinsAAGG (p.Lys32891=)
c.95713_95716delinsAAGG (p.Lys31905=)
c.77329_77332delinsAAGG (p.Lys25777=)
c.98824_98827delinsAAGG (p.Lys32942=)
c.98821_98824delinsAAGG (p.Lys32941=)
c.98254_98257delinsAAGG (p.Lys32752=)
c.95596_95599delinsAAGG (p.Lys31866=)
c.95515_95518delinsAAGG (p.Lys31839=)
c.77278_77281delinsAAGG (p.Lys25760=)
c.67132_67135delinsAAGG (p.Lys22378=)
2g.178532230C>ACA349411851TTN,TTN-AS1c.96681G>T (p.Lys32227Asn)
c.77766G>T (p.Lys25922Asn)
c.77565G>T (p.Lys25855Asn)
c.77190G>T (p.Lys25730Asn)
c.104385G>T (p.Lys34795Asn)
c.99462G>T (p.Lys33154Asn)
n.446+8594C>A
n.220-3502C>A
c.103482G>T (p.Lys34494Asn)
c.77376G>T (p.Lys25792Asn)
c.77235G>T (p.Lys25745Asn)
c.103278G>T (p.Lys34426Asn)
c.98676G>T (p.Lys32892Asn)
c.98673G>T (p.Lys32891Asn)
c.95715G>T (p.Lys31905Asn)
c.77331G>T (p.Lys25777Asn)
c.98826G>T (p.Lys32942Asn)
c.98823G>T (p.Lys32941Asn)
c.98256G>T (p.Lys32752Asn)
c.95598G>T (p.Lys31866Asn)
c.95517G>T (p.Lys31839Asn)
c.77280G>T (p.Lys25760Asn)
c.67134G>T (p.Lys22378Asn)
2g.178532230C=CA1310518134TTN,TTN-AS1c.96681G= (p.Lys32227=)
c.77766G= (p.Lys25922=)
c.77565G= (p.Lys25855=)
c.77190G= (p.Lys25730=)
c.104385G= (p.Lys34795=)
c.99462G= (p.Lys33154=)
n.446+8594C=
n.220-3502C=
c.103482G= (p.Lys34494=)
c.77376G= (p.Lys25792=)
c.77235G= (p.Lys25745=)
c.103278G= (p.Lys34426=)
c.98676G= (p.Lys32892=)
c.98673G= (p.Lys32891=)
c.95715G= (p.Lys31905=)
c.77331G= (p.Lys25777=)
c.98826G= (p.Lys32942=)
c.98823G= (p.Lys32941=)
c.98256G= (p.Lys32752=)
c.95598G= (p.Lys31866=)
c.95517G= (p.Lys31839=)
c.77280G= (p.Lys25760=)
c.67134G= (p.Lys22378=)
2g.178532230C>GCA349411852TTN,TTN-AS1c.96681G>C (p.Lys32227Asn)
c.77766G>C (p.Lys25922Asn)
c.77565G>C (p.Lys25855Asn)
c.77190G>C (p.Lys25730Asn)
c.104385G>C (p.Lys34795Asn)
c.99462G>C (p.Lys33154Asn)
n.446+8594C>G
n.220-3502C>G
c.103482G>C (p.Lys34494Asn)
c.77376G>C (p.Lys25792Asn)
c.77235G>C (p.Lys25745Asn)
c.103278G>C (p.Lys34426Asn)
c.98676G>C (p.Lys32892Asn)
c.98673G>C (p.Lys32891Asn)
c.95715G>C (p.Lys31905Asn)
c.77331G>C (p.Lys25777Asn)
c.98826G>C (p.Lys32942Asn)
c.98823G>C (p.Lys32941Asn)
c.98256G>C (p.Lys32752Asn)
c.95598G>C (p.Lys31866Asn)
c.95517G>C (p.Lys31839Asn)
c.77280G>C (p.Lys25760Asn)
c.67134G>C (p.Lys22378Asn)
2g.178532230C>TCA141670TTN,TTN-AS1c.96681G>A (p.Lys32227=)
c.77766G>A (p.Lys25922=)
c.77565G>A (p.Lys25855=)
c.77190G>A (p.Lys25730=)
c.104385G>A (p.Lys34795=)
c.99462G>A (p.Lys33154=)
n.446+8594C>T
n.220-3502C>T
c.103482G>A (p.Lys34494=)
c.77376G>A (p.Lys25792=)
c.77235G>A (p.Lys25745=)
c.103278G>A (p.Lys34426=)
c.98676G>A (p.Lys32892=)
c.98673G>A (p.Lys32891=)
c.95715G>A (p.Lys31905=)
c.77331G>A (p.Lys25777=)
c.98826G>A (p.Lys32942=)
c.98823G>A (p.Lys32941=)
c.98256G>A (p.Lys32752=)
c.95598G>A (p.Lys31866=)
c.95517G>A (p.Lys31839=)
c.77280G>A (p.Lys25760=)
c.67134G>A (p.Lys22378=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532230_178532232delCA1039708707TTN,TTN-AS1c.96679_96681del (p.Lys32227del)
c.77764_77766del (p.Lys25922del)
c.77563_77565del (p.Lys25855del)
c.77188_77190del (p.Lys25730del)
c.104383_104385del (p.Lys34795del)
c.99460_99462del (p.Lys33154del)
n.446+8594_446+8596del
n.220-3502_220-3500del
c.103480_103482del (p.Lys34494del)
c.77374_77376del (p.Lys25792del)
c.77233_77235del (p.Lys25745del)
c.103276_103278del (p.Lys34426del)
c.98674_98676del (p.Lys32892del)
c.98671_98673del (p.Lys32891del)
c.95713_95715del (p.Lys31905del)
c.77329_77331del (p.Lys25777del)
c.98824_98826del (p.Lys32942del)
c.98821_98823del (p.Lys32941del)
c.98254_98256del (p.Lys32752del)
c.95596_95598del (p.Lys31866del)
c.95515_95517del (p.Lys31839del)
c.77278_77280del (p.Lys25760del)
c.67132_67134del (p.Lys22378del)
 dbSNP gnomAD v3 gnomAD v4
2g.178532231T>ACA349411853TTN,TTN-AS1c.96680A>T (p.Lys32227Met)
c.77765A>T (p.Lys25922Met)
c.77564A>T (p.Lys25855Met)
c.77189A>T (p.Lys25730Met)
c.104384A>T (p.Lys34795Met)
c.99461A>T (p.Lys33154Met)
n.446+8595T>A
n.220-3501T>A
c.103481A>T (p.Lys34494Met)
c.77375A>T (p.Lys25792Met)
c.77234A>T (p.Lys25745Met)
c.103277A>T (p.Lys34426Met)
c.98675A>T (p.Lys32892Met)
c.98672A>T (p.Lys32891Met)
c.95714A>T (p.Lys31905Met)
c.77330A>T (p.Lys25777Met)
c.98825A>T (p.Lys32942Met)
c.98822A>T (p.Lys32941Met)
c.98255A>T (p.Lys32752Met)
c.95597A>T (p.Lys31866Met)
c.95516A>T (p.Lys31839Met)
c.77279A>T (p.Lys25760Met)
c.67133A>T (p.Lys22378Met)
2g.178532231T>CCA349411854TTN,TTN-AS1c.96680A>G (p.Lys32227Arg)
c.77765A>G (p.Lys25922Arg)
c.77564A>G (p.Lys25855Arg)
c.77189A>G (p.Lys25730Arg)
c.104384A>G (p.Lys34795Arg)
c.99461A>G (p.Lys33154Arg)
n.446+8595T>C
n.220-3501T>C
c.103481A>G (p.Lys34494Arg)
c.77375A>G (p.Lys25792Arg)
c.77234A>G (p.Lys25745Arg)
c.103277A>G (p.Lys34426Arg)
c.98675A>G (p.Lys32892Arg)
c.98672A>G (p.Lys32891Arg)
c.95714A>G (p.Lys31905Arg)
c.77330A>G (p.Lys25777Arg)
c.98825A>G (p.Lys32942Arg)
c.98822A>G (p.Lys32941Arg)
c.98255A>G (p.Lys32752Arg)
c.95597A>G (p.Lys31866Arg)
c.95516A>G (p.Lys31839Arg)
c.77279A>G (p.Lys25760Arg)
c.67133A>G (p.Lys22378Arg)
 ClinVar dbSNP gnomAD v4
2g.178532231T>GCA349411855TTN,TTN-AS1c.96680A>C (p.Lys32227Thr)
c.77765A>C (p.Lys25922Thr)
c.77564A>C (p.Lys25855Thr)
c.77189A>C (p.Lys25730Thr)
c.104384A>C (p.Lys34795Thr)
c.99461A>C (p.Lys33154Thr)
n.446+8595T>G
n.220-3501T>G
c.103481A>C (p.Lys34494Thr)
c.77375A>C (p.Lys25792Thr)
c.77234A>C (p.Lys25745Thr)
c.103277A>C (p.Lys34426Thr)
c.98675A>C (p.Lys32892Thr)
c.98672A>C (p.Lys32891Thr)
c.95714A>C (p.Lys31905Thr)
c.77330A>C (p.Lys25777Thr)
c.98825A>C (p.Lys32942Thr)
c.98822A>C (p.Lys32941Thr)
c.98255A>C (p.Lys32752Thr)
c.95597A>C (p.Lys31866Thr)
c.95516A>C (p.Lys31839Thr)
c.77279A>C (p.Lys25760Thr)
c.67133A>C (p.Lys22378Thr)
2g.178532231T=CA1310518135TTN,TTN-AS1c.96680A= (p.Lys32227=)
c.77765A= (p.Lys25922=)
c.77564A= (p.Lys25855=)
c.77189A= (p.Lys25730=)
c.104384A= (p.Lys34795=)
c.99461A= (p.Lys33154=)
n.446+8595T=
n.220-3501T=
c.103481A= (p.Lys34494=)
c.77375A= (p.Lys25792=)
c.77234A= (p.Lys25745=)
c.103277A= (p.Lys34426=)
c.98675A= (p.Lys32892=)
c.98672A= (p.Lys32891=)
c.95714A= (p.Lys31905=)
c.77330A= (p.Lys25777=)
c.98825A= (p.Lys32942=)
c.98822A= (p.Lys32941=)
c.98255A= (p.Lys32752=)
c.95597A= (p.Lys31866=)
c.95516A= (p.Lys31839=)
c.77279A= (p.Lys25760=)
c.67133A= (p.Lys22378=)
2g.178532232T>ACA349411856TTN,TTN-AS1c.96679A>T (p.Lys32227Ter)
c.77764A>T (p.Lys25922Ter)
c.77563A>T (p.Lys25855Ter)
c.77188A>T (p.Lys25730Ter)
c.104383A>T (p.Lys34795Ter)
c.99460A>T (p.Lys33154Ter)
n.446+8596T>A
n.220-3500T>A
c.103480A>T (p.Lys34494Ter)
c.77374A>T (p.Lys25792Ter)
c.77233A>T (p.Lys25745Ter)
c.103276A>T (p.Lys34426Ter)
c.98674A>T (p.Lys32892Ter)
c.98671A>T (p.Lys32891Ter)
c.95713A>T (p.Lys31905Ter)
c.77329A>T (p.Lys25777Ter)
c.98824A>T (p.Lys32942Ter)
c.98821A>T (p.Lys32941Ter)
c.98254A>T (p.Lys32752Ter)
c.95596A>T (p.Lys31866Ter)
c.95515A>T (p.Lys31839Ter)
c.77278A>T (p.Lys25760Ter)
c.67132A>T (p.Lys22378Ter)
2g.178532232T>CCA349411858TTN,TTN-AS1c.96679A>G (p.Lys32227Glu)
c.77764A>G (p.Lys25922Glu)
c.77563A>G (p.Lys25855Glu)
c.77188A>G (p.Lys25730Glu)
c.104383A>G (p.Lys34795Glu)
c.99460A>G (p.Lys33154Glu)
n.446+8596T>C
n.220-3500T>C
c.103480A>G (p.Lys34494Glu)
c.77374A>G (p.Lys25792Glu)
c.77233A>G (p.Lys25745Glu)
c.103276A>G (p.Lys34426Glu)
c.98674A>G (p.Lys32892Glu)
c.98671A>G (p.Lys32891Glu)
c.95713A>G (p.Lys31905Glu)
c.77329A>G (p.Lys25777Glu)
c.98824A>G (p.Lys32942Glu)
c.98821A>G (p.Lys32941Glu)
c.98254A>G (p.Lys32752Glu)
c.95596A>G (p.Lys31866Glu)
c.95515A>G (p.Lys31839Glu)
c.77278A>G (p.Lys25760Glu)
c.67132A>G (p.Lys22378Glu)
2g.178532232T>GCA349411857TTN,TTN-AS1c.96679A>C (p.Lys32227Gln)
c.77764A>C (p.Lys25922Gln)
c.77563A>C (p.Lys25855Gln)
c.77188A>C (p.Lys25730Gln)
c.104383A>C (p.Lys34795Gln)
c.99460A>C (p.Lys33154Gln)
n.446+8596T>G
n.220-3500T>G
c.103480A>C (p.Lys34494Gln)
c.77374A>C (p.Lys25792Gln)
c.77233A>C (p.Lys25745Gln)
c.103276A>C (p.Lys34426Gln)
c.98674A>C (p.Lys32892Gln)
c.98671A>C (p.Lys32891Gln)
c.95713A>C (p.Lys31905Gln)
c.77329A>C (p.Lys25777Gln)
c.98824A>C (p.Lys32942Gln)
c.98821A>C (p.Lys32941Gln)
c.98254A>C (p.Lys32752Gln)
c.95596A>C (p.Lys31866Gln)
c.95515A>C (p.Lys31839Gln)
c.77278A>C (p.Lys25760Gln)
c.67132A>C (p.Lys22378Gln)
 dbSNP gnomAD v2 gnomAD v4
2g.178532232T=CA1310518136TTN,TTN-AS1c.96679A= (p.Lys32227=)
c.77764A= (p.Lys25922=)
c.77563A= (p.Lys25855=)
c.77188A= (p.Lys25730=)
c.104383A= (p.Lys34795=)
c.99460A= (p.Lys33154=)
n.446+8596T=
n.220-3500T=
c.103480A= (p.Lys34494=)
c.77374A= (p.Lys25792=)
c.77233A= (p.Lys25745=)
c.103276A= (p.Lys34426=)
c.98674A= (p.Lys32892=)
c.98671A= (p.Lys32891=)
c.95713A= (p.Lys31905=)
c.77329A= (p.Lys25777=)
c.98824A= (p.Lys32942=)
c.98821A= (p.Lys32941=)
c.98254A= (p.Lys32752=)
c.95596A= (p.Lys31866=)
c.95515A= (p.Lys31839=)
c.77278A= (p.Lys25760=)
c.67132A= (p.Lys22378=)
2g.178532233T>ACA430235943TTN,TTN-AS1c.96678A>T (p.Ser32226=)
c.77763A>T (p.Ser25921=)
c.77562A>T (p.Ser25854=)
c.77187A>T (p.Ser25729=)
c.104382A>T (p.Ser34794=)
c.99459A>T (p.Ser33153=)
n.446+8597T>A
n.220-3499T>A
c.103479A>T (p.Ser34493=)
c.77373A>T (p.Ser25791=)
c.77232A>T (p.Ser25744=)
c.103275A>T (p.Ser34425=)
c.98673A>T (p.Ser32891=)
c.98670A>T (p.Ser32890=)
c.95712A>T (p.Ser31904=)
c.77328A>T (p.Ser25776=)
c.98823A>T (p.Ser32941=)
c.98820A>T (p.Ser32940=)
c.98253A>T (p.Ser32751=)
c.95595A>T (p.Ser31865=)
c.95514A>T (p.Ser31838=)
c.77277A>T (p.Ser25759=)
c.67131A>T (p.Ser22377=)
2g.178532233T>CCA430235944TTN,TTN-AS1c.96678A>G (p.Ser32226=)
c.77763A>G (p.Ser25921=)
c.77562A>G (p.Ser25854=)
c.77187A>G (p.Ser25729=)
c.104382A>G (p.Ser34794=)
c.99459A>G (p.Ser33153=)
n.446+8597T>C
n.220-3499T>C
c.103479A>G (p.Ser34493=)
c.77373A>G (p.Ser25791=)
c.77232A>G (p.Ser25744=)
c.103275A>G (p.Ser34425=)
c.98673A>G (p.Ser32891=)
c.98670A>G (p.Ser32890=)
c.95712A>G (p.Ser31904=)
c.77328A>G (p.Ser25776=)
c.98823A>G (p.Ser32941=)
c.98820A>G (p.Ser32940=)
c.98253A>G (p.Ser32751=)
c.95595A>G (p.Ser31865=)
c.95514A>G (p.Ser31838=)
c.77277A>G (p.Ser25759=)
c.67131A>G (p.Ser22377=)
 ClinVar dbSNP
2g.178532233T>GCA430235945TTN,TTN-AS1c.96678A>C (p.Ser32226=)
c.77763A>C (p.Ser25921=)
c.77562A>C (p.Ser25854=)
c.77187A>C (p.Ser25729=)
c.104382A>C (p.Ser34794=)
c.99459A>C (p.Ser33153=)
n.446+8597T>G
n.220-3499T>G
c.103479A>C (p.Ser34493=)
c.77373A>C (p.Ser25791=)
c.77232A>C (p.Ser25744=)
c.103275A>C (p.Ser34425=)
c.98673A>C (p.Ser32891=)
c.98670A>C (p.Ser32890=)
c.95712A>C (p.Ser31904=)
c.77328A>C (p.Ser25776=)
c.98823A>C (p.Ser32941=)
c.98820A>C (p.Ser32940=)
c.98253A>C (p.Ser32751=)
c.95595A>C (p.Ser31865=)
c.95514A>C (p.Ser31838=)
c.77277A>C (p.Ser25759=)
c.67131A>C (p.Ser22377=)
2g.178532233T=CA1310518137TTN,TTN-AS1c.96678A= (p.Ser32226=)
c.77763A= (p.Ser25921=)
c.77562A= (p.Ser25854=)
c.77187A= (p.Ser25729=)
c.104382A= (p.Ser34794=)
c.99459A= (p.Ser33153=)
n.446+8597T=
n.220-3499T=
c.103479A= (p.Ser34493=)
c.77373A= (p.Ser25791=)
c.77232A= (p.Ser25744=)
c.103275A= (p.Ser34425=)
c.98673A= (p.Ser32891=)
c.98670A= (p.Ser32890=)
c.95712A= (p.Ser31904=)
c.77328A= (p.Ser25776=)
c.98823A= (p.Ser32941=)
c.98820A= (p.Ser32940=)
c.98253A= (p.Ser32751=)
c.95595A= (p.Ser31865=)
c.95514A= (p.Ser31838=)
c.77277A= (p.Ser25759=)
c.67131A= (p.Ser22377=)
2g.178532234G>ACA349411859TTN,TTN-AS1c.96677C>T (p.Ser32226Leu)
c.77762C>T (p.Ser25921Leu)
c.77561C>T (p.Ser25854Leu)
c.77186C>T (p.Ser25729Leu)
c.104381C>T (p.Ser34794Leu)
c.99458C>T (p.Ser33153Leu)
n.446+8598G>A
n.220-3498G>A
c.103478C>T (p.Ser34493Leu)
c.77372C>T (p.Ser25791Leu)
c.77231C>T (p.Ser25744Leu)
c.103274C>T (p.Ser34425Leu)
c.98672C>T (p.Ser32891Leu)
c.98669C>T (p.Ser32890Leu)
c.95711C>T (p.Ser31904Leu)
c.77327C>T (p.Ser25776Leu)
c.98822C>T (p.Ser32941Leu)
c.98819C>T (p.Ser32940Leu)
c.98252C>T (p.Ser32751Leu)
c.95594C>T (p.Ser31865Leu)
c.95513C>T (p.Ser31838Leu)
c.77276C>T (p.Ser25759Leu)
c.67130C>T (p.Ser22377Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178532234G>CCA349411860TTN,TTN-AS1c.96677C>G (p.Ser32226Ter)
c.77762C>G (p.Ser25921Ter)
c.77561C>G (p.Ser25854Ter)
c.77186C>G (p.Ser25729Ter)
c.104381C>G (p.Ser34794Ter)
c.99458C>G (p.Ser33153Ter)
n.446+8598G>C
n.220-3498G>C
c.103478C>G (p.Ser34493Ter)
c.77372C>G (p.Ser25791Ter)
c.77231C>G (p.Ser25744Ter)
c.103274C>G (p.Ser34425Ter)
c.98672C>G (p.Ser32891Ter)
c.98669C>G (p.Ser32890Ter)
c.95711C>G (p.Ser31904Ter)
c.77327C>G (p.Ser25776Ter)
c.98822C>G (p.Ser32941Ter)
c.98819C>G (p.Ser32940Ter)
c.98252C>G (p.Ser32751Ter)
c.95594C>G (p.Ser31865Ter)
c.95513C>G (p.Ser31838Ter)
c.77276C>G (p.Ser25759Ter)
c.67130C>G (p.Ser22377Ter)
2g.178532234G=CA1310518138TTN,TTN-AS1c.96677C= (p.Ser32226=)
c.77762C= (p.Ser25921=)
c.77561C= (p.Ser25854=)
c.77186C= (p.Ser25729=)
c.104381C= (p.Ser34794=)
c.99458C= (p.Ser33153=)
n.446+8598G=
n.220-3498G=
c.103478C= (p.Ser34493=)
c.77372C= (p.Ser25791=)
c.77231C= (p.Ser25744=)
c.103274C= (p.Ser34425=)
c.98672C= (p.Ser32891=)
c.98669C= (p.Ser32890=)
c.95711C= (p.Ser31904=)
c.77327C= (p.Ser25776=)
c.98822C= (p.Ser32941=)
c.98819C= (p.Ser32940=)
c.98252C= (p.Ser32751=)
c.95594C= (p.Ser31865=)
c.95513C= (p.Ser31838=)
c.77276C= (p.Ser25759=)
c.67130C= (p.Ser22377=)
2g.178532234G>TCA349411861TTN,TTN-AS1c.96677C>A (p.Ser32226Ter)
c.77762C>A (p.Ser25921Ter)
c.77561C>A (p.Ser25854Ter)
c.77186C>A (p.Ser25729Ter)
c.104381C>A (p.Ser34794Ter)
c.99458C>A (p.Ser33153Ter)
n.446+8598G>T
n.220-3498G>T
c.103478C>A (p.Ser34493Ter)
c.77372C>A (p.Ser25791Ter)
c.77231C>A (p.Ser25744Ter)
c.103274C>A (p.Ser34425Ter)
c.98672C>A (p.Ser32891Ter)
c.98669C>A (p.Ser32890Ter)
c.95711C>A (p.Ser31904Ter)
c.77327C>A (p.Ser25776Ter)
c.98822C>A (p.Ser32941Ter)
c.98819C>A (p.Ser32940Ter)
c.98252C>A (p.Ser32751Ter)
c.95594C>A (p.Ser31865Ter)
c.95513C>A (p.Ser31838Ter)
c.77276C>A (p.Ser25759Ter)
c.67130C>A (p.Ser22377Ter)
2g.178532235A>CCA349411862TTN,TTN-AS1c.96676T>G (p.Ser32226Ala)
c.77761T>G (p.Ser25921Ala)
c.77560T>G (p.Ser25854Ala)
c.77185T>G (p.Ser25729Ala)
c.104380T>G (p.Ser34794Ala)
c.99457T>G (p.Ser33153Ala)
n.446+8599A>C
n.220-3497A>C
c.103477T>G (p.Ser34493Ala)
c.77371T>G (p.Ser25791Ala)
c.77230T>G (p.Ser25744Ala)
c.103273T>G (p.Ser34425Ala)
c.98671T>G (p.Ser32891Ala)
c.98668T>G (p.Ser32890Ala)
c.95710T>G (p.Ser31904Ala)
c.77326T>G (p.Ser25776Ala)
c.98821T>G (p.Ser32941Ala)
c.98818T>G (p.Ser32940Ala)
c.98251T>G (p.Ser32751Ala)
c.95593T>G (p.Ser31865Ala)
c.95512T>G (p.Ser31838Ala)
c.77275T>G (p.Ser25759Ala)
c.67129T>G (p.Ser22377Ala)
2g.178532235A>GCA349411863TTN,TTN-AS1c.96676T>C (p.Ser32226Pro)
c.77761T>C (p.Ser25921Pro)
c.77560T>C (p.Ser25854Pro)
c.77185T>C (p.Ser25729Pro)
c.104380T>C (p.Ser34794Pro)
c.99457T>C (p.Ser33153Pro)
n.446+8599A>G
n.220-3497A>G
c.103477T>C (p.Ser34493Pro)
c.77371T>C (p.Ser25791Pro)
c.77230T>C (p.Ser25744Pro)
c.103273T>C (p.Ser34425Pro)
c.98671T>C (p.Ser32891Pro)
c.98668T>C (p.Ser32890Pro)
c.95710T>C (p.Ser31904Pro)
c.77326T>C (p.Ser25776Pro)
c.98821T>C (p.Ser32941Pro)
c.98818T>C (p.Ser32940Pro)
c.98251T>C (p.Ser32751Pro)
c.95593T>C (p.Ser31865Pro)
c.95512T>C (p.Ser31838Pro)
c.77275T>C (p.Ser25759Pro)
c.67129T>C (p.Ser22377Pro)
2g.178532235A>TCA349411864TTN,TTN-AS1c.96676T>A (p.Ser32226Thr)
c.77761T>A (p.Ser25921Thr)
c.77560T>A (p.Ser25854Thr)
c.77185T>A (p.Ser25729Thr)
c.104380T>A (p.Ser34794Thr)
c.99457T>A (p.Ser33153Thr)
n.446+8599A>T
n.220-3497A>T
c.103477T>A (p.Ser34493Thr)
c.77371T>A (p.Ser25791Thr)
c.77230T>A (p.Ser25744Thr)
c.103273T>A (p.Ser34425Thr)
c.98671T>A (p.Ser32891Thr)
c.98668T>A (p.Ser32890Thr)
c.95710T>A (p.Ser31904Thr)
c.77326T>A (p.Ser25776Thr)
c.98821T>A (p.Ser32941Thr)
c.98818T>A (p.Ser32940Thr)
c.98251T>A (p.Ser32751Thr)
c.95593T>A (p.Ser31865Thr)
c.95512T>A (p.Ser31838Thr)
c.77275T>A (p.Ser25759Thr)
c.67129T>A (p.Ser22377Thr)
2g.178532236C>ACA349411865TTN,TTN-AS1c.96675G>T (p.Met32225Ile)
c.77760G>T (p.Met25920Ile)
c.77559G>T (p.Met25853Ile)
c.77184G>T (p.Met25728Ile)
c.104379G>T (p.Met34793Ile)
c.99456G>T (p.Met33152Ile)
n.446+8600C>A
n.220-3496C>A
c.103476G>T (p.Met34492Ile)
c.77370G>T (p.Met25790Ile)
c.77229G>T (p.Met25743Ile)
c.103272G>T (p.Met34424Ile)
c.98670G>T (p.Met32890Ile)
c.98667G>T (p.Met32889Ile)
c.95709G>T (p.Met31903Ile)
c.77325G>T (p.Met25775Ile)
c.98820G>T (p.Met32940Ile)
c.98817G>T (p.Met32939Ile)
c.98250G>T (p.Met32750Ile)
c.95592G>T (p.Met31864Ile)
c.95511G>T (p.Met31837Ile)
c.77274G>T (p.Met25758Ile)
c.67128G>T (p.Met22376Ile)
2g.178532236C>GCA349411866TTN,TTN-AS1c.96675G>C (p.Met32225Ile)
c.77760G>C (p.Met25920Ile)
c.77559G>C (p.Met25853Ile)
c.77184G>C (p.Met25728Ile)
c.104379G>C (p.Met34793Ile)
c.99456G>C (p.Met33152Ile)
n.446+8600C>G
n.220-3496C>G
c.103476G>C (p.Met34492Ile)
c.77370G>C (p.Met25790Ile)
c.77229G>C (p.Met25743Ile)
c.103272G>C (p.Met34424Ile)
c.98670G>C (p.Met32890Ile)
c.98667G>C (p.Met32889Ile)
c.95709G>C (p.Met31903Ile)
c.77325G>C (p.Met25775Ile)
c.98820G>C (p.Met32940Ile)
c.98817G>C (p.Met32939Ile)
c.98250G>C (p.Met32750Ile)
c.95592G>C (p.Met31864Ile)
c.95511G>C (p.Met31837Ile)
c.77274G>C (p.Met25758Ile)
c.67128G>C (p.Met22376Ile)
2g.178532236C>TCA349411867TTN,TTN-AS1c.96675G>A (p.Met32225Ile)
c.77760G>A (p.Met25920Ile)
c.77559G>A (p.Met25853Ile)
c.77184G>A (p.Met25728Ile)
c.104379G>A (p.Met34793Ile)
c.99456G>A (p.Met33152Ile)
n.446+8600C>T
n.220-3496C>T
c.103476G>A (p.Met34492Ile)
c.77370G>A (p.Met25790Ile)
c.77229G>A (p.Met25743Ile)
c.103272G>A (p.Met34424Ile)
c.98670G>A (p.Met32890Ile)
c.98667G>A (p.Met32889Ile)
c.95709G>A (p.Met31903Ile)
c.77325G>A (p.Met25775Ile)
c.98820G>A (p.Met32940Ile)
c.98817G>A (p.Met32939Ile)
c.98250G>A (p.Met32750Ile)
c.95592G>A (p.Met31864Ile)
c.95511G>A (p.Met31837Ile)
c.77274G>A (p.Met25758Ile)
c.67128G>A (p.Met22376Ile)
2g.178532237A=CA1310518139TTN,TTN-AS1c.96674T= (p.Met32225=)
c.77759T= (p.Met25920=)
c.77558T= (p.Met25853=)
c.77183T= (p.Met25728=)
c.104378T= (p.Met34793=)
c.99455T= (p.Met33152=)
n.446+8601A=
n.220-3495A=
c.103475T= (p.Met34492=)
c.77369T= (p.Met25790=)
c.77228T= (p.Met25743=)
c.103271T= (p.Met34424=)
c.98669T= (p.Met32890=)
c.98666T= (p.Met32889=)
c.95708T= (p.Met31903=)
c.77324T= (p.Met25775=)
c.98819T= (p.Met32940=)
c.98816T= (p.Met32939=)
c.98249T= (p.Met32750=)
c.95591T= (p.Met31864=)
c.95510T= (p.Met31837=)
c.77273T= (p.Met25758=)
c.67127T= (p.Met22376=)
2g.178532237A>CCA349411868TTN,TTN-AS1c.96674T>G (p.Met32225Arg)
c.77759T>G (p.Met25920Arg)
c.77558T>G (p.Met25853Arg)
c.77183T>G (p.Met25728Arg)
c.104378T>G (p.Met34793Arg)
c.99455T>G (p.Met33152Arg)
n.446+8601A>C
n.220-3495A>C
c.103475T>G (p.Met34492Arg)
c.77369T>G (p.Met25790Arg)
c.77228T>G (p.Met25743Arg)
c.103271T>G (p.Met34424Arg)
c.98669T>G (p.Met32890Arg)
c.98666T>G (p.Met32889Arg)
c.95708T>G (p.Met31903Arg)
c.77324T>G (p.Met25775Arg)
c.98819T>G (p.Met32940Arg)
c.98816T>G (p.Met32939Arg)
c.98249T>G (p.Met32750Arg)
c.95591T>G (p.Met31864Arg)
c.95510T>G (p.Met31837Arg)
c.77273T>G (p.Met25758Arg)
c.67127T>G (p.Met22376Arg)
 gnomAD v4
2g.178532237A>GCA1985432TTN,TTN-AS1c.96674T>C (p.Met32225Thr)
c.77759T>C (p.Met25920Thr)
c.77558T>C (p.Met25853Thr)
c.77183T>C (p.Met25728Thr)
c.104378T>C (p.Met34793Thr)
c.99455T>C (p.Met33152Thr)
n.446+8601A>G
n.220-3495A>G
c.103475T>C (p.Met34492Thr)
c.77369T>C (p.Met25790Thr)
c.77228T>C (p.Met25743Thr)
c.103271T>C (p.Met34424Thr)
c.98669T>C (p.Met32890Thr)
c.98666T>C (p.Met32889Thr)
c.95708T>C (p.Met31903Thr)
c.77324T>C (p.Met25775Thr)
c.98819T>C (p.Met32940Thr)
c.98816T>C (p.Met32939Thr)
c.98249T>C (p.Met32750Thr)
c.95591T>C (p.Met31864Thr)
c.95510T>C (p.Met31837Thr)
c.77273T>C (p.Met25758Thr)
c.67127T>C (p.Met22376Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178532237A>TCA349411869TTN,TTN-AS1c.96674T>A (p.Met32225Lys)
c.77759T>A (p.Met25920Lys)
c.77558T>A (p.Met25853Lys)
c.77183T>A (p.Met25728Lys)
c.104378T>A (p.Met34793Lys)
c.99455T>A (p.Met33152Lys)
n.446+8601A>T
n.220-3495A>T
c.103475T>A (p.Met34492Lys)
c.77369T>A (p.Met25790Lys)
c.77228T>A (p.Met25743Lys)
c.103271T>A (p.Met34424Lys)
c.98669T>A (p.Met32890Lys)
c.98666T>A (p.Met32889Lys)
c.95708T>A (p.Met31903Lys)
c.77324T>A (p.Met25775Lys)
c.98819T>A (p.Met32940Lys)
c.98816T>A (p.Met32939Lys)
c.98249T>A (p.Met32750Lys)
c.95591T>A (p.Met31864Lys)
c.95510T>A (p.Met31837Lys)
c.77273T>A (p.Met25758Lys)
c.67127T>A (p.Met22376Lys)
2g.178532238T>ACA349411870TTN,TTN-AS1c.96673A>T (p.Met32225Leu)
c.77758A>T (p.Met25920Leu)
c.77557A>T (p.Met25853Leu)
c.77182A>T (p.Met25728Leu)
c.104377A>T (p.Met34793Leu)
c.99454A>T (p.Met33152Leu)
n.446+8602T>A
n.220-3494T>A
c.103474A>T (p.Met34492Leu)
c.77368A>T (p.Met25790Leu)
c.77227A>T (p.Met25743Leu)
c.103270A>T (p.Met34424Leu)
c.98668A>T (p.Met32890Leu)
c.98665A>T (p.Met32889Leu)
c.95707A>T (p.Met31903Leu)
c.77323A>T (p.Met25775Leu)
c.98818A>T (p.Met32940Leu)
c.98815A>T (p.Met32939Leu)
c.98248A>T (p.Met32750Leu)
c.95590A>T (p.Met31864Leu)
c.95509A>T (p.Met31837Leu)
c.77272A>T (p.Met25758Leu)
c.67126A>T (p.Met22376Leu)
2g.178532238T>CCA349411871TTN,TTN-AS1c.96673A>G (p.Met32225Val)
c.77758A>G (p.Met25920Val)
c.77557A>G (p.Met25853Val)
c.77182A>G (p.Met25728Val)
c.104377A>G (p.Met34793Val)
c.99454A>G (p.Met33152Val)
n.446+8602T>C
n.220-3494T>C
c.103474A>G (p.Met34492Val)
c.77368A>G (p.Met25790Val)
c.77227A>G (p.Met25743Val)
c.103270A>G (p.Met34424Val)
c.98668A>G (p.Met32890Val)
c.98665A>G (p.Met32889Val)
c.95707A>G (p.Met31903Val)
c.77323A>G (p.Met25775Val)
c.98818A>G (p.Met32940Val)
c.98815A>G (p.Met32939Val)
c.98248A>G (p.Met32750Val)
c.95590A>G (p.Met31864Val)
c.95509A>G (p.Met31837Val)
c.77272A>G (p.Met25758Val)
c.67126A>G (p.Met22376Val)
 gnomAD v4
2g.178532238T>GCA284286TTN,TTN-AS1c.96673A>C (p.Met32225Leu)
c.77758A>C (p.Met25920Leu)
c.77557A>C (p.Met25853Leu)
c.77182A>C (p.Met25728Leu)
c.104377A>C (p.Met34793Leu)
c.99454A>C (p.Met33152Leu)
n.446+8602T>G
n.220-3494T>G
c.103474A>C (p.Met34492Leu)
c.77368A>C (p.Met25790Leu)
c.77227A>C (p.Met25743Leu)
c.103270A>C (p.Met34424Leu)
c.98668A>C (p.Met32890Leu)
c.98665A>C (p.Met32889Leu)
c.95707A>C (p.Met31903Leu)
c.77323A>C (p.Met25775Leu)
c.98818A>C (p.Met32940Leu)
c.98815A>C (p.Met32939Leu)
c.98248A>C (p.Met32750Leu)
c.95590A>C (p.Met31864Leu)
c.95509A>C (p.Met31837Leu)
c.77272A>C (p.Met25758Leu)
c.67126A>C (p.Met22376Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532238T=CA1310518140TTN,TTN-AS1c.96673A= (p.Met32225=)
c.77758A= (p.Met25920=)
c.77557A= (p.Met25853=)
c.77182A= (p.Met25728=)
c.104377A= (p.Met34793=)
c.99454A= (p.Met33152=)
n.446+8602T=
n.220-3494T=
c.103474A= (p.Met34492=)
c.77368A= (p.Met25790=)
c.77227A= (p.Met25743=)
c.103270A= (p.Met34424=)
c.98668A= (p.Met32890=)
c.98665A= (p.Met32889=)
c.95707A= (p.Met31903=)
c.77323A= (p.Met25775=)
c.98818A= (p.Met32940=)
c.98815A= (p.Met32939=)
c.98248A= (p.Met32750=)
c.95590A= (p.Met31864=)
c.95509A= (p.Met31837=)
c.77272A= (p.Met25758=)
c.67126A= (p.Met22376=)
2g.178532239G>ACA430235946TTN,TTN-AS1c.96672C>T (p.Phe32224=)
c.77757C>T (p.Phe25919=)
c.77556C>T (p.Phe25852=)
c.77181C>T (p.Phe25727=)
c.104376C>T (p.Phe34792=)
c.99453C>T (p.Phe33151=)
n.446+8603G>A
n.220-3493G>A
c.103473C>T (p.Phe34491=)
c.77367C>T (p.Phe25789=)
c.77226C>T (p.Phe25742=)
c.103269C>T (p.Phe34423=)
c.98667C>T (p.Phe32889=)
c.98664C>T (p.Phe32888=)
c.95706C>T (p.Phe31902=)
c.77322C>T (p.Phe25774=)
c.98817C>T (p.Phe32939=)
c.98814C>T (p.Phe32938=)
c.98247C>T (p.Phe32749=)
c.95589C>T (p.Phe31863=)
c.95508C>T (p.Phe31836=)
c.77271C>T (p.Phe25757=)
c.67125C>T (p.Phe22375=)
 COSMIC COSMIC COSMIC COSMIC
2g.178532239G>CCA349411872TTN,TTN-AS1c.96672C>G (p.Phe32224Leu)
c.77757C>G (p.Phe25919Leu)
c.77556C>G (p.Phe25852Leu)
c.77181C>G (p.Phe25727Leu)
c.104376C>G (p.Phe34792Leu)
c.99453C>G (p.Phe33151Leu)
n.446+8603G>C
n.220-3493G>C
c.103473C>G (p.Phe34491Leu)
c.77367C>G (p.Phe25789Leu)
c.77226C>G (p.Phe25742Leu)
c.103269C>G (p.Phe34423Leu)
c.98667C>G (p.Phe32889Leu)
c.98664C>G (p.Phe32888Leu)
c.95706C>G (p.Phe31902Leu)
c.77322C>G (p.Phe25774Leu)
c.98817C>G (p.Phe32939Leu)
c.98814C>G (p.Phe32938Leu)
c.98247C>G (p.Phe32749Leu)
c.95589C>G (p.Phe31863Leu)
c.95508C>G (p.Phe31836Leu)
c.77271C>G (p.Phe25757Leu)
c.67125C>G (p.Phe22375Leu)
 gnomAD v4
2g.178532239G>TCA349411873TTN,TTN-AS1c.96672C>A (p.Phe32224Leu)
c.77757C>A (p.Phe25919Leu)
c.77556C>A (p.Phe25852Leu)
c.77181C>A (p.Phe25727Leu)
c.104376C>A (p.Phe34792Leu)
c.99453C>A (p.Phe33151Leu)
n.446+8603G>T
n.220-3493G>T
c.103473C>A (p.Phe34491Leu)
c.77367C>A (p.Phe25789Leu)
c.77226C>A (p.Phe25742Leu)
c.103269C>A (p.Phe34423Leu)
c.98667C>A (p.Phe32889Leu)
c.98664C>A (p.Phe32888Leu)
c.95706C>A (p.Phe31902Leu)
c.77322C>A (p.Phe25774Leu)
c.98817C>A (p.Phe32939Leu)
c.98814C>A (p.Phe32938Leu)
c.98247C>A (p.Phe32749Leu)
c.95589C>A (p.Phe31863Leu)
c.95508C>A (p.Phe31836Leu)
c.77271C>A (p.Phe25757Leu)
c.67125C>A (p.Phe22375Leu)
 COSMIC COSMIC COSMIC COSMIC
2g.178532239_178532244delinsGAAGTCCA1310518141TTN,TTN-AS1c.96667_96672delinsGACTTC (p.Asp32223=)
c.77752_77757delinsGACTTC (p.Asp25918=)
c.77551_77556delinsGACTTC (p.Asp25851=)
c.77176_77181delinsGACTTC (p.Asp25726=)
c.104371_104376delinsGACTTC (p.Asp34791=)
c.99448_99453delinsGACTTC (p.Asp33150=)
n.446+8603_446+8608delinsGAAGTC
n.220-3493_220-3488delinsGAAGTC
c.103468_103473delinsGACTTC (p.Asp34490=)
c.77362_77367delinsGACTTC (p.Asp25788=)
c.77221_77226delinsGACTTC (p.Asp25741=)
c.103264_103269delinsGACTTC (p.Asp34422=)
c.98662_98667delinsGACTTC (p.Asp32888=)
c.98659_98664delinsGACTTC (p.Asp32887=)
c.95701_95706delinsGACTTC (p.Asp31901=)
c.77317_77322delinsGACTTC (p.Asp25773=)
c.98812_98817delinsGACTTC (p.Asp32938=)
c.98809_98814delinsGACTTC (p.Asp32937=)
c.98242_98247delinsGACTTC (p.Asp32748=)
c.95584_95589delinsGACTTC (p.Asp31862=)
c.95503_95508delinsGACTTC (p.Asp31835=)
c.77266_77271delinsGACTTC (p.Asp25756=)
c.67120_67125delinsGACTTC (p.Asp22374=)
2g.178532240A>CCA349411874TTN,TTN-AS1c.96671T>G (p.Phe32224Cys)
c.77756T>G (p.Phe25919Cys)
c.77555T>G (p.Phe25852Cys)
c.77180T>G (p.Phe25727Cys)
c.104375T>G (p.Phe34792Cys)
c.99452T>G (p.Phe33151Cys)
n.446+8604A>C
n.220-3492A>C
c.103472T>G (p.Phe34491Cys)
c.77366T>G (p.Phe25789Cys)
c.77225T>G (p.Phe25742Cys)
c.103268T>G (p.Phe34423Cys)
c.98666T>G (p.Phe32889Cys)
c.98663T>G (p.Phe32888Cys)
c.95705T>G (p.Phe31902Cys)
c.77321T>G (p.Phe25774Cys)
c.98816T>G (p.Phe32939Cys)
c.98813T>G (p.Phe32938Cys)
c.98246T>G (p.Phe32749Cys)
c.95588T>G (p.Phe31863Cys)
c.95507T>G (p.Phe31836Cys)
c.77270T>G (p.Phe25757Cys)
c.67124T>G (p.Phe22375Cys)
2g.178532240A>GCA349411875TTN,TTN-AS1c.96671T>C (p.Phe32224Ser)
c.77756T>C (p.Phe25919Ser)
c.77555T>C (p.Phe25852Ser)
c.77180T>C (p.Phe25727Ser)
c.104375T>C (p.Phe34792Ser)
c.99452T>C (p.Phe33151Ser)
n.446+8604A>G
n.220-3492A>G
c.103472T>C (p.Phe34491Ser)
c.77366T>C (p.Phe25789Ser)
c.77225T>C (p.Phe25742Ser)
c.103268T>C (p.Phe34423Ser)
c.98666T>C (p.Phe32889Ser)
c.98663T>C (p.Phe32888Ser)
c.95705T>C (p.Phe31902Ser)
c.77321T>C (p.Phe25774Ser)
c.98816T>C (p.Phe32939Ser)
c.98813T>C (p.Phe32938Ser)
c.98246T>C (p.Phe32749Ser)
c.95588T>C (p.Phe31863Ser)
c.95507T>C (p.Phe31836Ser)
c.77270T>C (p.Phe25757Ser)
c.67124T>C (p.Phe22375Ser)
2g.178532240A>TCA349411876TTN,TTN-AS1c.96671T>A (p.Phe32224Tyr)
c.77756T>A (p.Phe25919Tyr)
c.77555T>A (p.Phe25852Tyr)
c.77180T>A (p.Phe25727Tyr)
c.104375T>A (p.Phe34792Tyr)
c.99452T>A (p.Phe33151Tyr)
n.446+8604A>T
n.220-3492A>T
c.103472T>A (p.Phe34491Tyr)
c.77366T>A (p.Phe25789Tyr)
c.77225T>A (p.Phe25742Tyr)
c.103268T>A (p.Phe34423Tyr)
c.98666T>A (p.Phe32889Tyr)
c.98663T>A (p.Phe32888Tyr)
c.95705T>A (p.Phe31902Tyr)
c.77321T>A (p.Phe25774Tyr)
c.98816T>A (p.Phe32939Tyr)
c.98813T>A (p.Phe32938Tyr)
c.98246T>A (p.Phe32749Tyr)
c.95588T>A (p.Phe31863Tyr)
c.95507T>A (p.Phe31836Tyr)
c.77270T>A (p.Phe25757Tyr)
c.67124T>A (p.Phe22375Tyr)
2g.178532244_178532248delCA761288186TTN,TTN-AS1c.96667_96671del (p.Asp32223HisfsTer8)
c.77752_77756del (p.Asp25918HisfsTer8)
c.77551_77555del (p.Asp25851HisfsTer8)
c.77176_77180del (p.Asp25726HisfsTer8)
c.104371_104375del (p.Asp34791HisfsTer8)
c.99448_99452del (p.Asp33150HisfsTer8)
n.446+8608_446+8612del
n.220-3488_220-3484del
c.103468_103472del (p.Asp34490HisfsTer8)
c.77362_77366del (p.Asp25788HisfsTer8)
c.77221_77225del (p.Asp25741HisfsTer8)
c.103264_103268del (p.Asp34422HisfsTer8)
c.98662_98666del (p.Asp32888HisfsTer8)
c.98659_98663del (p.Asp32887HisfsTer8)
c.95701_95705del (p.Asp31901HisfsTer8)
c.77317_77321del (p.Asp25773HisfsTer8)
c.98812_98816del (p.Asp32938HisfsTer8)
c.98809_98813del (p.Asp32937HisfsTer8)
c.98242_98246del (p.Asp32748HisfsTer8)
c.95584_95588del (p.Asp31862HisfsTer8)
c.95503_95507del (p.Asp31835HisfsTer8)
c.77266_77270del (p.Asp25756HisfsTer8)
c.67120_67124del (p.Asp22374HisfsTer8)
 dbSNP gnomAD v3 gnomAD v4
2g.178532241A>CCA349411879TTN,TTN-AS1c.96670T>G (p.Phe32224Val)
c.77755T>G (p.Phe25919Val)
c.77554T>G (p.Phe25852Val)
c.77179T>G (p.Phe25727Val)
c.104374T>G (p.Phe34792Val)
c.99451T>G (p.Phe33151Val)
n.446+8605A>C
n.220-3491A>C
c.103471T>G (p.Phe34491Val)
c.77365T>G (p.Phe25789Val)
c.77224T>G (p.Phe25742Val)
c.103267T>G (p.Phe34423Val)
c.98665T>G (p.Phe32889Val)
c.98662T>G (p.Phe32888Val)
c.95704T>G (p.Phe31902Val)
c.77320T>G (p.Phe25774Val)
c.98815T>G (p.Phe32939Val)
c.98812T>G (p.Phe32938Val)
c.98245T>G (p.Phe32749Val)
c.95587T>G (p.Phe31863Val)
c.95506T>G (p.Phe31836Val)
c.77269T>G (p.Phe25757Val)
c.67123T>G (p.Phe22375Val)
2g.178532241A>GCA349411877TTN,TTN-AS1c.96670T>C (p.Phe32224Leu)
c.77755T>C (p.Phe25919Leu)
c.77554T>C (p.Phe25852Leu)
c.77179T>C (p.Phe25727Leu)
c.104374T>C (p.Phe34792Leu)
c.99451T>C (p.Phe33151Leu)
n.446+8605A>G
n.220-3491A>G
c.103471T>C (p.Phe34491Leu)
c.77365T>C (p.Phe25789Leu)
c.77224T>C (p.Phe25742Leu)
c.103267T>C (p.Phe34423Leu)
c.98665T>C (p.Phe32889Leu)
c.98662T>C (p.Phe32888Leu)
c.95704T>C (p.Phe31902Leu)
c.77320T>C (p.Phe25774Leu)
c.98815T>C (p.Phe32939Leu)
c.98812T>C (p.Phe32938Leu)
c.98245T>C (p.Phe32749Leu)
c.95587T>C (p.Phe31863Leu)
c.95506T>C (p.Phe31836Leu)
c.77269T>C (p.Phe25757Leu)
c.67123T>C (p.Phe22375Leu)
2g.178532241A>TCA349411878TTN,TTN-AS1c.96670T>A (p.Phe32224Ile)
c.77755T>A (p.Phe25919Ile)
c.77554T>A (p.Phe25852Ile)
c.77179T>A (p.Phe25727Ile)
c.104374T>A (p.Phe34792Ile)
c.99451T>A (p.Phe33151Ile)
n.446+8605A>T
n.220-3491A>T
c.103471T>A (p.Phe34491Ile)
c.77365T>A (p.Phe25789Ile)
c.77224T>A (p.Phe25742Ile)
c.103267T>A (p.Phe34423Ile)
c.98665T>A (p.Phe32889Ile)
c.98662T>A (p.Phe32888Ile)
c.95704T>A (p.Phe31902Ile)
c.77320T>A (p.Phe25774Ile)
c.98815T>A (p.Phe32939Ile)
c.98812T>A (p.Phe32938Ile)
c.98245T>A (p.Phe32749Ile)
c.95587T>A (p.Phe31863Ile)
c.95506T>A (p.Phe31836Ile)
c.77269T>A (p.Phe25757Ile)
c.67123T>A (p.Phe22375Ile)
2g.178532242G>ACA430235947TTN,TTN-AS1c.96669C>T (p.Asp32223=)
c.77754C>T (p.Asp25918=)
c.77553C>T (p.Asp25851=)
c.77178C>T (p.Asp25726=)
c.104373C>T (p.Asp34791=)
c.99450C>T (p.Asp33150=)
n.446+8606G>A
n.220-3490G>A
c.103470C>T (p.Asp34490=)
c.77364C>T (p.Asp25788=)
c.77223C>T (p.Asp25741=)
c.103266C>T (p.Asp34422=)
c.98664C>T (p.Asp32888=)
c.98661C>T (p.Asp32887=)
c.95703C>T (p.Asp31901=)
c.77319C>T (p.Asp25773=)
c.98814C>T (p.Asp32938=)
c.98811C>T (p.Asp32937=)
c.98244C>T (p.Asp32748=)
c.95586C>T (p.Asp31862=)
c.95505C>T (p.Asp31835=)
c.77268C>T (p.Asp25756=)
c.67122C>T (p.Asp22374=)
 gnomAD v4
2g.178532242G>CCA349411880TTN,TTN-AS1c.96669C>G (p.Asp32223Glu)
c.77754C>G (p.Asp25918Glu)
c.77553C>G (p.Asp25851Glu)
c.77178C>G (p.Asp25726Glu)
c.104373C>G (p.Asp34791Glu)
c.99450C>G (p.Asp33150Glu)
n.446+8606G>C
n.220-3490G>C
c.103470C>G (p.Asp34490Glu)
c.77364C>G (p.Asp25788Glu)
c.77223C>G (p.Asp25741Glu)
c.103266C>G (p.Asp34422Glu)
c.98664C>G (p.Asp32888Glu)
c.98661C>G (p.Asp32887Glu)
c.95703C>G (p.Asp31901Glu)
c.77319C>G (p.Asp25773Glu)
c.98814C>G (p.Asp32938Glu)
c.98811C>G (p.Asp32937Glu)
c.98244C>G (p.Asp32748Glu)
c.95586C>G (p.Asp31862Glu)
c.95505C>G (p.Asp31835Glu)
c.77268C>G (p.Asp25756Glu)
c.67122C>G (p.Asp22374Glu)
2g.178532242G>TCA349411881TTN,TTN-AS1c.96669C>A (p.Asp32223Glu)
c.77754C>A (p.Asp25918Glu)
c.77553C>A (p.Asp25851Glu)
c.77178C>A (p.Asp25726Glu)
c.104373C>A (p.Asp34791Glu)
c.99450C>A (p.Asp33150Glu)
n.446+8606G>T
n.220-3490G>T
c.103470C>A (p.Asp34490Glu)
c.77364C>A (p.Asp25788Glu)
c.77223C>A (p.Asp25741Glu)
c.103266C>A (p.Asp34422Glu)
c.98664C>A (p.Asp32888Glu)
c.98661C>A (p.Asp32887Glu)
c.95703C>A (p.Asp31901Glu)
c.77319C>A (p.Asp25773Glu)
c.98814C>A (p.Asp32938Glu)
c.98811C>A (p.Asp32937Glu)
c.98244C>A (p.Asp32748Glu)
c.95586C>A (p.Asp31862Glu)
c.95505C>A (p.Asp31835Glu)
c.77268C>A (p.Asp25756Glu)
c.67122C>A (p.Asp22374Glu)
2g.178532243T>ACA349411882TTN,TTN-AS1c.96668A>T (p.Asp32223Val)
c.77753A>T (p.Asp25918Val)
c.77552A>T (p.Asp25851Val)
c.77177A>T (p.Asp25726Val)
c.104372A>T (p.Asp34791Val)
c.99449A>T (p.Asp33150Val)
n.446+8607T>A
n.220-3489T>A
c.103469A>T (p.Asp34490Val)
c.77363A>T (p.Asp25788Val)
c.77222A>T (p.Asp25741Val)
c.103265A>T (p.Asp34422Val)
c.98663A>T (p.Asp32888Val)
c.98660A>T (p.Asp32887Val)
c.95702A>T (p.Asp31901Val)
c.77318A>T (p.Asp25773Val)
c.98813A>T (p.Asp32938Val)
c.98810A>T (p.Asp32937Val)
c.98243A>T (p.Asp32748Val)
c.95585A>T (p.Asp31862Val)
c.95504A>T (p.Asp31835Val)
c.77267A>T (p.Asp25756Val)
c.67121A>T (p.Asp22374Val)
2g.178532243T>CCA349411883TTN,TTN-AS1c.96668A>G (p.Asp32223Gly)
c.77753A>G (p.Asp25918Gly)
c.77552A>G (p.Asp25851Gly)
c.77177A>G (p.Asp25726Gly)
c.104372A>G (p.Asp34791Gly)
c.99449A>G (p.Asp33150Gly)
n.446+8607T>C
n.220-3489T>C
c.103469A>G (p.Asp34490Gly)
c.77363A>G (p.Asp25788Gly)
c.77222A>G (p.Asp25741Gly)
c.103265A>G (p.Asp34422Gly)
c.98663A>G (p.Asp32888Gly)
c.98660A>G (p.Asp32887Gly)
c.95702A>G (p.Asp31901Gly)
c.77318A>G (p.Asp25773Gly)
c.98813A>G (p.Asp32938Gly)
c.98810A>G (p.Asp32937Gly)
c.98243A>G (p.Asp32748Gly)
c.95585A>G (p.Asp31862Gly)
c.95504A>G (p.Asp31835Gly)
c.77267A>G (p.Asp25756Gly)
c.67121A>G (p.Asp22374Gly)
2g.178532243T>GCA349411884TTN,TTN-AS1c.96668A>C (p.Asp32223Ala)
c.77753A>C (p.Asp25918Ala)
c.77552A>C (p.Asp25851Ala)
c.77177A>C (p.Asp25726Ala)
c.104372A>C (p.Asp34791Ala)
c.99449A>C (p.Asp33150Ala)
n.446+8607T>G
n.220-3489T>G
c.103469A>C (p.Asp34490Ala)
c.77363A>C (p.Asp25788Ala)
c.77222A>C (p.Asp25741Ala)
c.103265A>C (p.Asp34422Ala)
c.98663A>C (p.Asp32888Ala)
c.98660A>C (p.Asp32887Ala)
c.95702A>C (p.Asp31901Ala)
c.77318A>C (p.Asp25773Ala)
c.98813A>C (p.Asp32938Ala)
c.98810A>C (p.Asp32937Ala)
c.98243A>C (p.Asp32748Ala)
c.95585A>C (p.Asp31862Ala)
c.95504A>C (p.Asp31835Ala)
c.77267A>C (p.Asp25756Ala)
c.67121A>C (p.Asp22374Ala)
 gnomAD v4
2g.178532244C>ACA349411885TTN,TTN-AS1c.96667G>T (p.Asp32223Tyr)
c.77752G>T (p.Asp25918Tyr)
c.77551G>T (p.Asp25851Tyr)
c.77176G>T (p.Asp25726Tyr)
c.104371G>T (p.Asp34791Tyr)
c.99448G>T (p.Asp33150Tyr)
n.446+8608C>A
n.220-3488C>A
c.103468G>T (p.Asp34490Tyr)
c.77362G>T (p.Asp25788Tyr)
c.77221G>T (p.Asp25741Tyr)
c.103264G>T (p.Asp34422Tyr)
c.98662G>T (p.Asp32888Tyr)
c.98659G>T (p.Asp32887Tyr)
c.95701G>T (p.Asp31901Tyr)
c.77317G>T (p.Asp25773Tyr)
c.98812G>T (p.Asp32938Tyr)
c.98809G>T (p.Asp32937Tyr)
c.98242G>T (p.Asp32748Tyr)
c.95584G>T (p.Asp31862Tyr)
c.95503G>T (p.Asp31835Tyr)
c.77266G>T (p.Asp25756Tyr)
c.67120G>T (p.Asp22374Tyr)
 dbSNP gnomAD v4
2g.178532244C=CA1310518142TTN,TTN-AS1c.96667G= (p.Asp32223=)
c.77752G= (p.Asp25918=)
c.77551G= (p.Asp25851=)
c.77176G= (p.Asp25726=)
c.104371G= (p.Asp34791=)
c.99448G= (p.Asp33150=)
n.446+8608C=
n.220-3488C=
c.103468G= (p.Asp34490=)
c.77362G= (p.Asp25788=)
c.77221G= (p.Asp25741=)
c.103264G= (p.Asp34422=)
c.98662G= (p.Asp32888=)
c.98659G= (p.Asp32887=)
c.95701G= (p.Asp31901=)
c.77317G= (p.Asp25773=)
c.98812G= (p.Asp32938=)
c.98809G= (p.Asp32937=)
c.98242G= (p.Asp32748=)
c.95584G= (p.Asp31862=)
c.95503G= (p.Asp31835=)
c.77266G= (p.Asp25756=)
c.67120G= (p.Asp22374=)
2g.178532244C>GCA349411887TTN,TTN-AS1c.96667G>C (p.Asp32223His)
c.77752G>C (p.Asp25918His)
c.77551G>C (p.Asp25851His)
c.77176G>C (p.Asp25726His)
c.104371G>C (p.Asp34791His)
c.99448G>C (p.Asp33150His)
n.446+8608C>G
n.220-3488C>G
c.103468G>C (p.Asp34490His)
c.77362G>C (p.Asp25788His)
c.77221G>C (p.Asp25741His)
c.103264G>C (p.Asp34422His)
c.98662G>C (p.Asp32888His)
c.98659G>C (p.Asp32887His)
c.95701G>C (p.Asp31901His)
c.77317G>C (p.Asp25773His)
c.98812G>C (p.Asp32938His)
c.98809G>C (p.Asp32937His)
c.98242G>C (p.Asp32748His)
c.95584G>C (p.Asp31862His)
c.95503G>C (p.Asp31835His)
c.77266G>C (p.Asp25756His)
c.67120G>C (p.Asp22374His)
2g.178532244C>TCA349411886TTN,TTN-AS1c.96667G>A (p.Asp32223Asn)
c.77752G>A (p.Asp25918Asn)
c.77551G>A (p.Asp25851Asn)
c.77176G>A (p.Asp25726Asn)
c.104371G>A (p.Asp34791Asn)
c.99448G>A (p.Asp33150Asn)
n.446+8608C>T
n.220-3488C>T
c.103468G>A (p.Asp34490Asn)
c.77362G>A (p.Asp25788Asn)
c.77221G>A (p.Asp25741Asn)
c.103264G>A (p.Asp34422Asn)
c.98662G>A (p.Asp32888Asn)
c.98659G>A (p.Asp32887Asn)
c.95701G>A (p.Asp31901Asn)
c.77317G>A (p.Asp25773Asn)
c.98812G>A (p.Asp32938Asn)
c.98809G>A (p.Asp32937Asn)
c.98242G>A (p.Asp32748Asn)
c.95584G>A (p.Asp31862Asn)
c.95503G>A (p.Asp31835Asn)
c.77266G>A (p.Asp25756Asn)
c.67120G>A (p.Asp22374Asn)
2g.178532245A>CCA430235948TTN,TTN-AS1c.96666T>G (p.Leu32222=)
c.77751T>G (p.Leu25917=)
c.77550T>G (p.Leu25850=)
c.77175T>G (p.Leu25725=)
c.104370T>G (p.Leu34790=)
c.99447T>G (p.Leu33149=)
n.446+8609A>C
n.220-3487A>C
c.103467T>G (p.Leu34489=)
c.77361T>G (p.Leu25787=)
c.77220T>G (p.Leu25740=)
c.103263T>G (p.Leu34421=)
c.98661T>G (p.Leu32887=)
c.98658T>G (p.Leu32886=)
c.95700T>G (p.Leu31900=)
c.77316T>G (p.Leu25772=)
c.98811T>G (p.Leu32937=)
c.98808T>G (p.Leu32936=)
c.98241T>G (p.Leu32747=)
c.95583T>G (p.Leu31861=)
c.95502T>G (p.Leu31834=)
c.77265T>G (p.Leu25755=)
c.67119T>G (p.Leu22373=)
2g.178532245A>GCA430235949TTN,TTN-AS1c.96666T>C (p.Leu32222=)
c.77751T>C (p.Leu25917=)
c.77550T>C (p.Leu25850=)
c.77175T>C (p.Leu25725=)
c.104370T>C (p.Leu34790=)
c.99447T>C (p.Leu33149=)
n.446+8609A>G
n.220-3487A>G
c.103467T>C (p.Leu34489=)
c.77361T>C (p.Leu25787=)
c.77220T>C (p.Leu25740=)
c.103263T>C (p.Leu34421=)
c.98661T>C (p.Leu32887=)
c.98658T>C (p.Leu32886=)
c.95700T>C (p.Leu31900=)
c.77316T>C (p.Leu25772=)
c.98811T>C (p.Leu32937=)
c.98808T>C (p.Leu32936=)
c.98241T>C (p.Leu32747=)
c.95583T>C (p.Leu31861=)
c.95502T>C (p.Leu31834=)
c.77265T>C (p.Leu25755=)
c.67119T>C (p.Leu22373=)
2g.178532245A>TCA430235950TTN,TTN-AS1c.96666T>A (p.Leu32222=)
c.77751T>A (p.Leu25917=)
c.77550T>A (p.Leu25850=)
c.77175T>A (p.Leu25725=)
c.104370T>A (p.Leu34790=)
c.99447T>A (p.Leu33149=)
n.446+8609A>T
n.220-3487A>T
c.103467T>A (p.Leu34489=)
c.77361T>A (p.Leu25787=)
c.77220T>A (p.Leu25740=)
c.103263T>A (p.Leu34421=)
c.98661T>A (p.Leu32887=)
c.98658T>A (p.Leu32886=)
c.95700T>A (p.Leu31900=)
c.77316T>A (p.Leu25772=)
c.98811T>A (p.Leu32937=)
c.98808T>A (p.Leu32936=)
c.98241T>A (p.Leu32747=)
c.95583T>A (p.Leu31861=)
c.95502T>A (p.Leu31834=)
c.77265T>A (p.Leu25755=)
c.67119T>A (p.Leu22373=)
2g.178532246A=CA1310518143TTN,TTN-AS1c.96665T= (p.Leu32222=)
c.77750T= (p.Leu25917=)
c.77549T= (p.Leu25850=)
c.77174T= (p.Leu25725=)
c.104369T= (p.Leu34790=)
c.99446T= (p.Leu33149=)
n.446+8610A=
n.220-3486A=
c.103466T= (p.Leu34489=)
c.77360T= (p.Leu25787=)
c.77219T= (p.Leu25740=)
c.103262T= (p.Leu34421=)
c.98660T= (p.Leu32887=)
c.98657T= (p.Leu32886=)
c.95699T= (p.Leu31900=)
c.77315T= (p.Leu25772=)
c.98810T= (p.Leu32937=)
c.98807T= (p.Leu32936=)
c.98240T= (p.Leu32747=)
c.95582T= (p.Leu31861=)
c.95501T= (p.Leu31834=)
c.77264T= (p.Leu25755=)
c.67118T= (p.Leu22373=)
2g.178532246A>CCA349411888TTN,TTN-AS1c.96665T>G (p.Leu32222Arg)
c.77750T>G (p.Leu25917Arg)
c.77549T>G (p.Leu25850Arg)
c.77174T>G (p.Leu25725Arg)
c.104369T>G (p.Leu34790Arg)
c.99446T>G (p.Leu33149Arg)
n.446+8610A>C
n.220-3486A>C
c.103466T>G (p.Leu34489Arg)
c.77360T>G (p.Leu25787Arg)
c.77219T>G (p.Leu25740Arg)
c.103262T>G (p.Leu34421Arg)
c.98660T>G (p.Leu32887Arg)
c.98657T>G (p.Leu32886Arg)
c.95699T>G (p.Leu31900Arg)
c.77315T>G (p.Leu25772Arg)
c.98810T>G (p.Leu32937Arg)
c.98807T>G (p.Leu32936Arg)
c.98240T>G (p.Leu32747Arg)
c.95582T>G (p.Leu31861Arg)
c.95501T>G (p.Leu31834Arg)
c.77264T>G (p.Leu25755Arg)
c.67118T>G (p.Leu22373Arg)
2g.178532246A>GCA349411890TTN,TTN-AS1c.96665T>C (p.Leu32222Pro)
c.77750T>C (p.Leu25917Pro)
c.77549T>C (p.Leu25850Pro)
c.77174T>C (p.Leu25725Pro)
c.104369T>C (p.Leu34790Pro)
c.99446T>C (p.Leu33149Pro)
n.446+8610A>G
n.220-3486A>G
c.103466T>C (p.Leu34489Pro)
c.77360T>C (p.Leu25787Pro)
c.77219T>C (p.Leu25740Pro)
c.103262T>C (p.Leu34421Pro)
c.98660T>C (p.Leu32887Pro)
c.98657T>C (p.Leu32886Pro)
c.95699T>C (p.Leu31900Pro)
c.77315T>C (p.Leu25772Pro)
c.98810T>C (p.Leu32937Pro)
c.98807T>C (p.Leu32936Pro)
c.98240T>C (p.Leu32747Pro)
c.95582T>C (p.Leu31861Pro)
c.95501T>C (p.Leu31834Pro)
c.77264T>C (p.Leu25755Pro)
c.67118T>C (p.Leu22373Pro)
 ClinVar dbSNP gnomAD v4
2g.178532246A>TCA349411889TTN,TTN-AS1c.96665T>A (p.Leu32222His)
c.77750T>A (p.Leu25917His)
c.77549T>A (p.Leu25850His)
c.77174T>A (p.Leu25725His)
c.104369T>A (p.Leu34790His)
c.99446T>A (p.Leu33149His)
n.446+8610A>T
n.220-3486A>T
c.103466T>A (p.Leu34489His)
c.77360T>A (p.Leu25787His)
c.77219T>A (p.Leu25740His)
c.103262T>A (p.Leu34421His)
c.98660T>A (p.Leu32887His)
c.98657T>A (p.Leu32886His)
c.95699T>A (p.Leu31900His)
c.77315T>A (p.Leu25772His)
c.98810T>A (p.Leu32937His)
c.98807T>A (p.Leu32936His)
c.98240T>A (p.Leu32747His)
c.95582T>A (p.Leu31861His)
c.95501T>A (p.Leu31834His)
c.77264T>A (p.Leu25755His)
c.67118T>A (p.Leu22373His)
2g.178532247G>ACA1985433TTN,TTN-AS1c.96664C>T (p.Leu32222Phe)
c.77749C>T (p.Leu25917Phe)
c.77548C>T (p.Leu25850Phe)
c.77173C>T (p.Leu25725Phe)
c.104368C>T (p.Leu34790Phe)
c.99445C>T (p.Leu33149Phe)
n.446+8611G>A
n.220-3485G>A
c.103465C>T (p.Leu34489Phe)
c.77359C>T (p.Leu25787Phe)
c.77218C>T (p.Leu25740Phe)
c.103261C>T (p.Leu34421Phe)
c.98659C>T (p.Leu32887Phe)
c.98656C>T (p.Leu32886Phe)
c.95698C>T (p.Leu31900Phe)
c.77314C>T (p.Leu25772Phe)
c.98809C>T (p.Leu32937Phe)
c.98806C>T (p.Leu32936Phe)
c.98239C>T (p.Leu32747Phe)
c.95581C>T (p.Leu31861Phe)
c.95500C>T (p.Leu31834Phe)
c.77263C>T (p.Leu25755Phe)
c.67117C>T (p.Leu22373Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532247G>CCA349411891TTN,TTN-AS1c.96664C>G (p.Leu32222Val)
c.77749C>G (p.Leu25917Val)
c.77548C>G (p.Leu25850Val)
c.77173C>G (p.Leu25725Val)
c.104368C>G (p.Leu34790Val)
c.99445C>G (p.Leu33149Val)
n.446+8611G>C
n.220-3485G>C
c.103465C>G (p.Leu34489Val)
c.77359C>G (p.Leu25787Val)
c.77218C>G (p.Leu25740Val)
c.103261C>G (p.Leu34421Val)
c.98659C>G (p.Leu32887Val)
c.98656C>G (p.Leu32886Val)
c.95698C>G (p.Leu31900Val)
c.77314C>G (p.Leu25772Val)
c.98809C>G (p.Leu32937Val)
c.98806C>G (p.Leu32936Val)
c.98239C>G (p.Leu32747Val)
c.95581C>G (p.Leu31861Val)
c.95500C>G (p.Leu31834Val)
c.77263C>G (p.Leu25755Val)
c.67117C>G (p.Leu22373Val)
2g.178532247G=CA1310518144TTN,TTN-AS1c.96664C= (p.Leu32222=)
c.77749C= (p.Leu25917=)
c.77548C= (p.Leu25850=)
c.77173C= (p.Leu25725=)
c.104368C= (p.Leu34790=)
c.99445C= (p.Leu33149=)
n.446+8611G=
n.220-3485G=
c.103465C= (p.Leu34489=)
c.77359C= (p.Leu25787=)
c.77218C= (p.Leu25740=)
c.103261C= (p.Leu34421=)
c.98659C= (p.Leu32887=)
c.98656C= (p.Leu32886=)
c.95698C= (p.Leu31900=)
c.77314C= (p.Leu25772=)
c.98809C= (p.Leu32937=)
c.98806C= (p.Leu32936=)
c.98239C= (p.Leu32747=)
c.95581C= (p.Leu31861=)
c.95500C= (p.Leu31834=)
c.77263C= (p.Leu25755=)
c.67117C= (p.Leu22373=)
2g.178532247G>TCA349411892TTN,TTN-AS1c.96664C>A (p.Leu32222Ile)
c.77749C>A (p.Leu25917Ile)
c.77548C>A (p.Leu25850Ile)
c.77173C>A (p.Leu25725Ile)
c.104368C>A (p.Leu34790Ile)
c.99445C>A (p.Leu33149Ile)
n.446+8611G>T
n.220-3485G>T
c.103465C>A (p.Leu34489Ile)
c.77359C>A (p.Leu25787Ile)
c.77218C>A (p.Leu25740Ile)
c.103261C>A (p.Leu34421Ile)
c.98659C>A (p.Leu32887Ile)
c.98656C>A (p.Leu32886Ile)
c.95698C>A (p.Leu31900Ile)
c.77314C>A (p.Leu25772Ile)
c.98809C>A (p.Leu32937Ile)
c.98806C>A (p.Leu32936Ile)
c.98239C>A (p.Leu32747Ile)
c.95581C>A (p.Leu31861Ile)
c.95500C>A (p.Leu31834Ile)
c.77263C>A (p.Leu25755Ile)
c.67117C>A (p.Leu22373Ile)
2g.178532248T>ACA349411893TTN,TTN-AS1c.96663A>T (p.Glu32221Asp)
c.77748A>T (p.Glu25916Asp)
c.77547A>T (p.Glu25849Asp)
c.77172A>T (p.Glu25724Asp)
c.104367A>T (p.Glu34789Asp)
c.99444A>T (p.Glu33148Asp)
n.446+8612T>A
n.220-3484T>A
c.103464A>T (p.Glu34488Asp)
c.77358A>T (p.Glu25786Asp)
c.77217A>T (p.Glu25739Asp)
c.103260A>T (p.Glu34420Asp)
c.98658A>T (p.Glu32886Asp)
c.98655A>T (p.Glu32885Asp)
c.95697A>T (p.Glu31899Asp)
c.77313A>T (p.Glu25771Asp)
c.98808A>T (p.Glu32936Asp)
c.98805A>T (p.Glu32935Asp)
c.98238A>T (p.Glu32746Asp)
c.95580A>T (p.Glu31860Asp)
c.95499A>T (p.Glu31833Asp)
c.77262A>T (p.Glu25754Asp)
c.67116A>T (p.Glu22372Asp)
2g.178532248T>CCA430235951TTN,TTN-AS1c.96663A>G (p.Glu32221=)
c.77748A>G (p.Glu25916=)
c.77547A>G (p.Glu25849=)
c.77172A>G (p.Glu25724=)
c.104367A>G (p.Glu34789=)
c.99444A>G (p.Glu33148=)
n.446+8612T>C
n.220-3484T>C
c.103464A>G (p.Glu34488=)
c.77358A>G (p.Glu25786=)
c.77217A>G (p.Glu25739=)
c.103260A>G (p.Glu34420=)
c.98658A>G (p.Glu32886=)
c.98655A>G (p.Glu32885=)
c.95697A>G (p.Glu31899=)
c.77313A>G (p.Glu25771=)
c.98808A>G (p.Glu32936=)
c.98805A>G (p.Glu32935=)
c.98238A>G (p.Glu32746=)
c.95580A>G (p.Glu31860=)
c.95499A>G (p.Glu31833=)
c.77262A>G (p.Glu25754=)
c.67116A>G (p.Glu22372=)
2g.178532248T>GCA349411894TTN,TTN-AS1c.96663A>C (p.Glu32221Asp)
c.77748A>C (p.Glu25916Asp)
c.77547A>C (p.Glu25849Asp)
c.77172A>C (p.Glu25724Asp)
c.104367A>C (p.Glu34789Asp)
c.99444A>C (p.Glu33148Asp)
n.446+8612T>G
n.220-3484T>G
c.103464A>C (p.Glu34488Asp)
c.77358A>C (p.Glu25786Asp)
c.77217A>C (p.Glu25739Asp)
c.103260A>C (p.Glu34420Asp)
c.98658A>C (p.Glu32886Asp)
c.98655A>C (p.Glu32885Asp)
c.95697A>C (p.Glu31899Asp)
c.77313A>C (p.Glu25771Asp)
c.98808A>C (p.Glu32936Asp)
c.98805A>C (p.Glu32935Asp)
c.98238A>C (p.Glu32746Asp)
c.95580A>C (p.Glu31860Asp)
c.95499A>C (p.Glu31833Asp)
c.77262A>C (p.Glu25754Asp)
c.67116A>C (p.Glu22372Asp)
2g.178532249T>ACA349411895TTN,TTN-AS1c.96662A>T (p.Glu32221Val)
c.77747A>T (p.Glu25916Val)
c.77546A>T (p.Glu25849Val)
c.77171A>T (p.Glu25724Val)
c.104366A>T (p.Glu34789Val)
c.99443A>T (p.Glu33148Val)
n.446+8613T>A
n.220-3483T>A
c.103463A>T (p.Glu34488Val)
c.77357A>T (p.Glu25786Val)
c.77216A>T (p.Glu25739Val)
c.103259A>T (p.Glu34420Val)
c.98657A>T (p.Glu32886Val)
c.98654A>T (p.Glu32885Val)
c.95696A>T (p.Glu31899Val)
c.77312A>T (p.Glu25771Val)
c.98807A>T (p.Glu32936Val)
c.98804A>T (p.Glu32935Val)
c.98237A>T (p.Glu32746Val)
c.95579A>T (p.Glu31860Val)
c.95498A>T (p.Glu31833Val)
c.77261A>T (p.Glu25754Val)
c.67115A>T (p.Glu22372Val)
2g.178532249T>CCA349411896TTN,TTN-AS1c.96662A>G (p.Glu32221Gly)
c.77747A>G (p.Glu25916Gly)
c.77546A>G (p.Glu25849Gly)
c.77171A>G (p.Glu25724Gly)
c.104366A>G (p.Glu34789Gly)
c.99443A>G (p.Glu33148Gly)
n.446+8613T>C
n.220-3483T>C
c.103463A>G (p.Glu34488Gly)
c.77357A>G (p.Glu25786Gly)
c.77216A>G (p.Glu25739Gly)
c.103259A>G (p.Glu34420Gly)
c.98657A>G (p.Glu32886Gly)
c.98654A>G (p.Glu32885Gly)
c.95696A>G (p.Glu31899Gly)
c.77312A>G (p.Glu25771Gly)
c.98807A>G (p.Glu32936Gly)
c.98804A>G (p.Glu32935Gly)
c.98237A>G (p.Glu32746Gly)
c.95579A>G (p.Glu31860Gly)
c.95498A>G (p.Glu31833Gly)
c.77261A>G (p.Glu25754Gly)
c.67115A>G (p.Glu22372Gly)
 COSMIC COSMIC COSMIC COSMIC
2g.178532249T>GCA349411897TTN,TTN-AS1c.96662A>C (p.Glu32221Ala)
c.77747A>C (p.Glu25916Ala)
c.77546A>C (p.Glu25849Ala)
c.77171A>C (p.Glu25724Ala)
c.104366A>C (p.Glu34789Ala)
c.99443A>C (p.Glu33148Ala)
n.446+8613T>G
n.220-3483T>G
c.103463A>C (p.Glu34488Ala)
c.77357A>C (p.Glu25786Ala)
c.77216A>C (p.Glu25739Ala)
c.103259A>C (p.Glu34420Ala)
c.98657A>C (p.Glu32886Ala)
c.98654A>C (p.Glu32885Ala)
c.95696A>C (p.Glu31899Ala)
c.77312A>C (p.Glu25771Ala)
c.98807A>C (p.Glu32936Ala)
c.98804A>C (p.Glu32935Ala)
c.98237A>C (p.Glu32746Ala)
c.95579A>C (p.Glu31860Ala)
c.95498A>C (p.Glu31833Ala)
c.77261A>C (p.Glu25754Ala)
c.67115A>C (p.Glu22372Ala)
2g.178532250C>ACA349411898TTN,TTN-AS1c.96661G>T (p.Glu32221Ter)
c.77746G>T (p.Glu25916Ter)
c.77545G>T (p.Glu25849Ter)
c.77170G>T (p.Glu25724Ter)
c.104365G>T (p.Glu34789Ter)
c.99442G>T (p.Glu33148Ter)
n.446+8614C>A
n.220-3482C>A
c.103462G>T (p.Glu34488Ter)
c.77356G>T (p.Glu25786Ter)
c.77215G>T (p.Glu25739Ter)
c.103258G>T (p.Glu34420Ter)
c.98656G>T (p.Glu32886Ter)
c.98653G>T (p.Glu32885Ter)
c.95695G>T (p.Glu31899Ter)
c.77311G>T (p.Glu25771Ter)
c.98806G>T (p.Glu32936Ter)
c.98803G>T (p.Glu32935Ter)
c.98236G>T (p.Glu32746Ter)
c.95578G>T (p.Glu31860Ter)
c.95497G>T (p.Glu31833Ter)
c.77260G>T (p.Glu25754Ter)
c.67114G>T (p.Glu22372Ter)
2g.178532250C=CA1310518145TTN,TTN-AS1c.96661G= (p.Glu32221=)
c.77746G= (p.Glu25916=)
c.77545G= (p.Glu25849=)
c.77170G= (p.Glu25724=)
c.104365G= (p.Glu34789=)
c.99442G= (p.Glu33148=)
n.446+8614C=
n.220-3482C=
c.103462G= (p.Glu34488=)
c.77356G= (p.Glu25786=)
c.77215G= (p.Glu25739=)
c.103258G= (p.Glu34420=)
c.98656G= (p.Glu32886=)
c.98653G= (p.Glu32885=)
c.95695G= (p.Glu31899=)
c.77311G= (p.Glu25771=)
c.98806G= (p.Glu32936=)
c.98803G= (p.Glu32935=)
c.98236G= (p.Glu32746=)
c.95578G= (p.Glu31860=)
c.95497G= (p.Glu31833=)
c.77260G= (p.Glu25754=)
c.67114G= (p.Glu22372=)
2g.178532250C>GCA349411899TTN,TTN-AS1c.96661G>C (p.Glu32221Gln)
c.77746G>C (p.Glu25916Gln)
c.77545G>C (p.Glu25849Gln)
c.77170G>C (p.Glu25724Gln)
c.104365G>C (p.Glu34789Gln)
c.99442G>C (p.Glu33148Gln)
n.446+8614C>G
n.220-3482C>G
c.103462G>C (p.Glu34488Gln)
c.77356G>C (p.Glu25786Gln)
c.77215G>C (p.Glu25739Gln)
c.103258G>C (p.Glu34420Gln)
c.98656G>C (p.Glu32886Gln)
c.98653G>C (p.Glu32885Gln)
c.95695G>C (p.Glu31899Gln)
c.77311G>C (p.Glu25771Gln)
c.98806G>C (p.Glu32936Gln)
c.98803G>C (p.Glu32935Gln)
c.98236G>C (p.Glu32746Gln)
c.95578G>C (p.Glu31860Gln)
c.95497G>C (p.Glu31833Gln)
c.77260G>C (p.Glu25754Gln)
c.67114G>C (p.Glu22372Gln)
 ClinVar dbSNP
2g.178532250C>TCA141665TTN,TTN-AS1c.96661G>A (p.Glu32221Lys)
c.77746G>A (p.Glu25916Lys)
c.77545G>A (p.Glu25849Lys)
c.77170G>A (p.Glu25724Lys)
c.104365G>A (p.Glu34789Lys)
c.99442G>A (p.Glu33148Lys)
n.446+8614C>T
n.220-3482C>T
c.103462G>A (p.Glu34488Lys)
c.77356G>A (p.Glu25786Lys)
c.77215G>A (p.Glu25739Lys)
c.103258G>A (p.Glu34420Lys)
c.98656G>A (p.Glu32886Lys)
c.98653G>A (p.Glu32885Lys)
c.95695G>A (p.Glu31899Lys)
c.77311G>A (p.Glu25771Lys)
c.98806G>A (p.Glu32936Lys)
c.98803G>A (p.Glu32935Lys)
c.98236G>A (p.Glu32746Lys)
c.95578G>A (p.Glu31860Lys)
c.95497G>A (p.Glu31833Lys)
c.77260G>A (p.Glu25754Lys)
c.67114G>A (p.Glu22372Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178532251G>ACA141661TTN,TTN-AS1c.96660C>T (p.Ser32220=)
c.77745C>T (p.Ser25915=)
c.77544C>T (p.Ser25848=)
c.77169C>T (p.Ser25723=)
c.104364C>T (p.Ser34788=)
c.99441C>T (p.Ser33147=)
n.446+8615G>A
n.220-3481G>A
c.103461C>T (p.Ser34487=)
c.77355C>T (p.Ser25785=)
c.77214C>T (p.Ser25738=)
c.103257C>T (p.Ser34419=)
c.98655C>T (p.Ser32885=)
c.98652C>T (p.Ser32884=)
c.95694C>T (p.Ser31898=)
c.77310C>T (p.Ser25770=)
c.98805C>T (p.Ser32935=)
c.98802C>T (p.Ser32934=)
c.98235C>T (p.Ser32745=)
c.95577C>T (p.Ser31859=)
c.95496C>T (p.Ser31832=)
c.77259C>T (p.Ser25753=)
c.67113C>T (p.Ser22371=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532251G>CCA349411900TTN,TTN-AS1c.96660C>G (p.Ser32220Arg)
c.77745C>G (p.Ser25915Arg)
c.77544C>G (p.Ser25848Arg)
c.77169C>G (p.Ser25723Arg)
c.104364C>G (p.Ser34788Arg)
c.99441C>G (p.Ser33147Arg)
n.446+8615G>C
n.220-3481G>C
c.103461C>G (p.Ser34487Arg)
c.77355C>G (p.Ser25785Arg)
c.77214C>G (p.Ser25738Arg)
c.103257C>G (p.Ser34419Arg)
c.98655C>G (p.Ser32885Arg)
c.98652C>G (p.Ser32884Arg)
c.95694C>G (p.Ser31898Arg)
c.77310C>G (p.Ser25770Arg)
c.98805C>G (p.Ser32935Arg)
c.98802C>G (p.Ser32934Arg)
c.98235C>G (p.Ser32745Arg)
c.95577C>G (p.Ser31859Arg)
c.95496C>G (p.Ser31832Arg)
c.77259C>G (p.Ser25753Arg)
c.67113C>G (p.Ser22371Arg)
2g.178532251G=CA1310518146TTN,TTN-AS1c.96660C= (p.Ser32220=)
c.77745C= (p.Ser25915=)
c.77544C= (p.Ser25848=)
c.77169C= (p.Ser25723=)
c.104364C= (p.Ser34788=)
c.99441C= (p.Ser33147=)
n.446+8615G=
n.220-3481G=
c.103461C= (p.Ser34487=)
c.77355C= (p.Ser25785=)
c.77214C= (p.Ser25738=)
c.103257C= (p.Ser34419=)
c.98655C= (p.Ser32885=)
c.98652C= (p.Ser32884=)
c.95694C= (p.Ser31898=)
c.77310C= (p.Ser25770=)
c.98805C= (p.Ser32935=)
c.98802C= (p.Ser32934=)
c.98235C= (p.Ser32745=)
c.95577C= (p.Ser31859=)
c.95496C= (p.Ser31832=)
c.77259C= (p.Ser25753=)
c.67113C= (p.Ser22371=)
2g.178532251G>TCA349411901TTN,TTN-AS1c.96660C>A (p.Ser32220Arg)
c.77745C>A (p.Ser25915Arg)
c.77544C>A (p.Ser25848Arg)
c.77169C>A (p.Ser25723Arg)
c.104364C>A (p.Ser34788Arg)
c.99441C>A (p.Ser33147Arg)
n.446+8615G>T
n.220-3481G>T
c.103461C>A (p.Ser34487Arg)
c.77355C>A (p.Ser25785Arg)
c.77214C>A (p.Ser25738Arg)
c.103257C>A (p.Ser34419Arg)
c.98655C>A (p.Ser32885Arg)
c.98652C>A (p.Ser32884Arg)
c.95694C>A (p.Ser31898Arg)
c.77310C>A (p.Ser25770Arg)
c.98805C>A (p.Ser32935Arg)
c.98802C>A (p.Ser32934Arg)
c.98235C>A (p.Ser32745Arg)
c.95577C>A (p.Ser31859Arg)
c.95496C>A (p.Ser31832Arg)
c.77259C>A (p.Ser25753Arg)
c.67113C>A (p.Ser22371Arg)
2g.178532252C>ACA349411902TTN,TTN-AS1c.96659G>T (p.Ser32220Ile)
c.77744G>T (p.Ser25915Ile)
c.77543G>T (p.Ser25848Ile)
c.77168G>T (p.Ser25723Ile)
c.104363G>T (p.Ser34788Ile)
c.99440G>T (p.Ser33147Ile)
n.446+8616C>A
n.220-3480C>A
c.103460G>T (p.Ser34487Ile)
c.77354G>T (p.Ser25785Ile)
c.77213G>T (p.Ser25738Ile)
c.103256G>T (p.Ser34419Ile)
c.98654G>T (p.Ser32885Ile)
c.98651G>T (p.Ser32884Ile)
c.95693G>T (p.Ser31898Ile)
c.77309G>T (p.Ser25770Ile)
c.98804G>T (p.Ser32935Ile)
c.98801G>T (p.Ser32934Ile)
c.98234G>T (p.Ser32745Ile)
c.95576G>T (p.Ser31859Ile)
c.95495G>T (p.Ser31832Ile)
c.77258G>T (p.Ser25753Ile)
c.67112G>T (p.Ser22371Ile)
2g.178532252C>GCA349411903TTN,TTN-AS1c.96659G>C (p.Ser32220Thr)
c.77744G>C (p.Ser25915Thr)
c.77543G>C (p.Ser25848Thr)
c.77168G>C (p.Ser25723Thr)
c.104363G>C (p.Ser34788Thr)
c.99440G>C (p.Ser33147Thr)
n.446+8616C>G
n.220-3480C>G
c.103460G>C (p.Ser34487Thr)
c.77354G>C (p.Ser25785Thr)
c.77213G>C (p.Ser25738Thr)
c.103256G>C (p.Ser34419Thr)
c.98654G>C (p.Ser32885Thr)
c.98651G>C (p.Ser32884Thr)
c.95693G>C (p.Ser31898Thr)
c.77309G>C (p.Ser25770Thr)
c.98804G>C (p.Ser32935Thr)
c.98801G>C (p.Ser32934Thr)
c.98234G>C (p.Ser32745Thr)
c.95576G>C (p.Ser31859Thr)
c.95495G>C (p.Ser31832Thr)
c.77258G>C (p.Ser25753Thr)
c.67112G>C (p.Ser22371Thr)
2g.178532252C>TCA349411904TTN,TTN-AS1c.96659G>A (p.Ser32220Asn)
c.77744G>A (p.Ser25915Asn)
c.77543G>A (p.Ser25848Asn)
c.77168G>A (p.Ser25723Asn)
c.104363G>A (p.Ser34788Asn)
c.99440G>A (p.Ser33147Asn)
n.446+8616C>T
n.220-3480C>T
c.103460G>A (p.Ser34487Asn)
c.77354G>A (p.Ser25785Asn)
c.77213G>A (p.Ser25738Asn)
c.103256G>A (p.Ser34419Asn)
c.98654G>A (p.Ser32885Asn)
c.98651G>A (p.Ser32884Asn)
c.95693G>A (p.Ser31898Asn)
c.77309G>A (p.Ser25770Asn)
c.98804G>A (p.Ser32935Asn)
c.98801G>A (p.Ser32934Asn)
c.98234G>A (p.Ser32745Asn)
c.95576G>A (p.Ser31859Asn)
c.95495G>A (p.Ser31832Asn)
c.77258G>A (p.Ser25753Asn)
c.67112G>A (p.Ser22371Asn)
2g.178532253T>ACA349411905TTN,TTN-AS1c.96658A>T (p.Ser32220Cys)
c.77743A>T (p.Ser25915Cys)
c.77542A>T (p.Ser25848Cys)
c.77167A>T (p.Ser25723Cys)
c.104362A>T (p.Ser34788Cys)
c.99439A>T (p.Ser33147Cys)
n.446+8617T>A
n.220-3479T>A
c.103459A>T (p.Ser34487Cys)
c.77353A>T (p.Ser25785Cys)
c.77212A>T (p.Ser25738Cys)
c.103255A>T (p.Ser34419Cys)
c.98653A>T (p.Ser32885Cys)
c.98650A>T (p.Ser32884Cys)
c.95692A>T (p.Ser31898Cys)
c.77308A>T (p.Ser25770Cys)
c.98803A>T (p.Ser32935Cys)
c.98800A>T (p.Ser32934Cys)
c.98233A>T (p.Ser32745Cys)
c.95575A>T (p.Ser31859Cys)
c.95494A>T (p.Ser31832Cys)
c.77257A>T (p.Ser25753Cys)
c.67111A>T (p.Ser22371Cys)
2g.178532253T>CCA349411906TTN,TTN-AS1c.96658A>G (p.Ser32220Gly)
c.77743A>G (p.Ser25915Gly)
c.77542A>G (p.Ser25848Gly)
c.77167A>G (p.Ser25723Gly)
c.104362A>G (p.Ser34788Gly)
c.99439A>G (p.Ser33147Gly)
n.446+8617T>C
n.220-3479T>C
c.103459A>G (p.Ser34487Gly)
c.77353A>G (p.Ser25785Gly)
c.77212A>G (p.Ser25738Gly)
c.103255A>G (p.Ser34419Gly)
c.98653A>G (p.Ser32885Gly)
c.98650A>G (p.Ser32884Gly)
c.95692A>G (p.Ser31898Gly)
c.77308A>G (p.Ser25770Gly)
c.98803A>G (p.Ser32935Gly)
c.98800A>G (p.Ser32934Gly)
c.98233A>G (p.Ser32745Gly)
c.95575A>G (p.Ser31859Gly)
c.95494A>G (p.Ser31832Gly)
c.77257A>G (p.Ser25753Gly)
c.67111A>G (p.Ser22371Gly)
2g.178532253T>GCA349411907TTN,TTN-AS1c.96658A>C (p.Ser32220Arg)
c.77743A>C (p.Ser25915Arg)
c.77542A>C (p.Ser25848Arg)
c.77167A>C (p.Ser25723Arg)
c.104362A>C (p.Ser34788Arg)
c.99439A>C (p.Ser33147Arg)
n.446+8617T>G
n.220-3479T>G
c.103459A>C (p.Ser34487Arg)
c.77353A>C (p.Ser25785Arg)
c.77212A>C (p.Ser25738Arg)
c.103255A>C (p.Ser34419Arg)
c.98653A>C (p.Ser32885Arg)
c.98650A>C (p.Ser32884Arg)
c.95692A>C (p.Ser31898Arg)
c.77308A>C (p.Ser25770Arg)
c.98803A>C (p.Ser32935Arg)
c.98800A>C (p.Ser32934Arg)
c.98233A>C (p.Ser32745Arg)
c.95575A>C (p.Ser31859Arg)
c.95494A>C (p.Ser31832Arg)
c.77257A>C (p.Ser25753Arg)
c.67111A>C (p.Ser22371Arg)
2g.178532254T>ACA349411908TTN,TTN-AS1c.96657A>T (p.Lys32219Asn)
c.77742A>T (p.Lys25914Asn)
c.77541A>T (p.Lys25847Asn)
c.77166A>T (p.Lys25722Asn)
c.104361A>T (p.Lys34787Asn)
c.99438A>T (p.Lys33146Asn)
n.446+8618T>A
n.220-3478T>A
c.103458A>T (p.Lys34486Asn)
c.77352A>T (p.Lys25784Asn)
c.77211A>T (p.Lys25737Asn)
c.103254A>T (p.Lys34418Asn)
c.98652A>T (p.Lys32884Asn)
c.98649A>T (p.Lys32883Asn)
c.95691A>T (p.Lys31897Asn)
c.77307A>T (p.Lys25769Asn)
c.98802A>T (p.Lys32934Asn)
c.98799A>T (p.Lys32933Asn)
c.98232A>T (p.Lys32744Asn)
c.95574A>T (p.Lys31858Asn)
c.95493A>T (p.Lys31831Asn)
c.77256A>T (p.Lys25752Asn)
c.67110A>T (p.Lys22370Asn)
2g.178532254T>CCA430235952TTN,TTN-AS1c.96657A>G (p.Lys32219=)
c.77742A>G (p.Lys25914=)
c.77541A>G (p.Lys25847=)
c.77166A>G (p.Lys25722=)
c.104361A>G (p.Lys34787=)
c.99438A>G (p.Lys33146=)
n.446+8618T>C
n.220-3478T>C
c.103458A>G (p.Lys34486=)
c.77352A>G (p.Lys25784=)
c.77211A>G (p.Lys25737=)
c.103254A>G (p.Lys34418=)
c.98652A>G (p.Lys32884=)
c.98649A>G (p.Lys32883=)
c.95691A>G (p.Lys31897=)
c.77307A>G (p.Lys25769=)
c.98802A>G (p.Lys32934=)
c.98799A>G (p.Lys32933=)
c.98232A>G (p.Lys32744=)
c.95574A>G (p.Lys31858=)
c.95493A>G (p.Lys31831=)
c.77256A>G (p.Lys25752=)
c.67110A>G (p.Lys22370=)
2g.178532254T>GCA349411909TTN,TTN-AS1c.96657A>C (p.Lys32219Asn)
c.77742A>C (p.Lys25914Asn)
c.77541A>C (p.Lys25847Asn)
c.77166A>C (p.Lys25722Asn)
c.104361A>C (p.Lys34787Asn)
c.99438A>C (p.Lys33146Asn)
n.446+8618T>G
n.220-3478T>G
c.103458A>C (p.Lys34486Asn)
c.77352A>C (p.Lys25784Asn)
c.77211A>C (p.Lys25737Asn)
c.103254A>C (p.Lys34418Asn)
c.98652A>C (p.Lys32884Asn)
c.98649A>C (p.Lys32883Asn)
c.95691A>C (p.Lys31897Asn)
c.77307A>C (p.Lys25769Asn)
c.98802A>C (p.Lys32934Asn)
c.98799A>C (p.Lys32933Asn)
c.98232A>C (p.Lys32744Asn)
c.95574A>C (p.Lys31858Asn)
c.95493A>C (p.Lys31831Asn)
c.77256A>C (p.Lys25752Asn)
c.67110A>C (p.Lys22370Asn)
2g.178532255T>ACA349411910TTN,TTN-AS1c.96656A>T (p.Lys32219Ile)
c.77741A>T (p.Lys25914Ile)
c.77540A>T (p.Lys25847Ile)
c.77165A>T (p.Lys25722Ile)
c.104360A>T (p.Lys34787Ile)
c.99437A>T (p.Lys33146Ile)
n.446+8619T>A
n.220-3477T>A
c.103457A>T (p.Lys34486Ile)
c.77351A>T (p.Lys25784Ile)
c.77210A>T (p.Lys25737Ile)
c.103253A>T (p.Lys34418Ile)
c.98651A>T (p.Lys32884Ile)
c.98648A>T (p.Lys32883Ile)
c.95690A>T (p.Lys31897Ile)
c.77306A>T (p.Lys25769Ile)
c.98801A>T (p.Lys32934Ile)
c.98798A>T (p.Lys32933Ile)
c.98231A>T (p.Lys32744Ile)
c.95573A>T (p.Lys31858Ile)
c.95492A>T (p.Lys31831Ile)
c.77255A>T (p.Lys25752Ile)
c.67109A>T (p.Lys22370Ile)
2g.178532255T>CCA349411911TTN,TTN-AS1c.96656A>G (p.Lys32219Arg)
c.77741A>G (p.Lys25914Arg)
c.77540A>G (p.Lys25847Arg)
c.77165A>G (p.Lys25722Arg)
c.104360A>G (p.Lys34787Arg)
c.99437A>G (p.Lys33146Arg)
n.446+8619T>C
n.220-3477T>C
c.103457A>G (p.Lys34486Arg)
c.77351A>G (p.Lys25784Arg)
c.77210A>G (p.Lys25737Arg)
c.103253A>G (p.Lys34418Arg)
c.98651A>G (p.Lys32884Arg)
c.98648A>G (p.Lys32883Arg)
c.95690A>G (p.Lys31897Arg)
c.77306A>G (p.Lys25769Arg)
c.98801A>G (p.Lys32934Arg)
c.98798A>G (p.Lys32933Arg)
c.98231A>G (p.Lys32744Arg)
c.95573A>G (p.Lys31858Arg)
c.95492A>G (p.Lys31831Arg)
c.77255A>G (p.Lys25752Arg)
c.67109A>G (p.Lys22370Arg)
2g.178532255T>GCA349411912TTN,TTN-AS1c.96656A>C (p.Lys32219Thr)
c.77741A>C (p.Lys25914Thr)
c.77540A>C (p.Lys25847Thr)
c.77165A>C (p.Lys25722Thr)
c.104360A>C (p.Lys34787Thr)
c.99437A>C (p.Lys33146Thr)
n.446+8619T>G
n.220-3477T>G
c.103457A>C (p.Lys34486Thr)
c.77351A>C (p.Lys25784Thr)
c.77210A>C (p.Lys25737Thr)
c.103253A>C (p.Lys34418Thr)
c.98651A>C (p.Lys32884Thr)
c.98648A>C (p.Lys32883Thr)
c.95690A>C (p.Lys31897Thr)
c.77306A>C (p.Lys25769Thr)
c.98801A>C (p.Lys32934Thr)
c.98798A>C (p.Lys32933Thr)
c.98231A>C (p.Lys32744Thr)
c.95573A>C (p.Lys31858Thr)
c.95492A>C (p.Lys31831Thr)
c.77255A>C (p.Lys25752Thr)
c.67109A>C (p.Lys22370Thr)
2g.178532256T>ACA349411914TTN,TTN-AS1c.96655A>T (p.Lys32219Ter)
c.77740A>T (p.Lys25914Ter)
c.77539A>T (p.Lys25847Ter)
c.77164A>T (p.Lys25722Ter)
c.104359A>T (p.Lys34787Ter)
c.99436A>T (p.Lys33146Ter)
n.446+8620T>A
n.220-3476T>A
c.103456A>T (p.Lys34486Ter)
c.77350A>T (p.Lys25784Ter)
c.77209A>T (p.Lys25737Ter)
c.103252A>T (p.Lys34418Ter)
c.98650A>T (p.Lys32884Ter)
c.98647A>T (p.Lys32883Ter)
c.95689A>T (p.Lys31897Ter)
c.77305A>T (p.Lys25769Ter)
c.98800A>T (p.Lys32934Ter)
c.98797A>T (p.Lys32933Ter)
c.98230A>T (p.Lys32744Ter)
c.95572A>T (p.Lys31858Ter)
c.95491A>T (p.Lys31831Ter)
c.77254A>T (p.Lys25752Ter)
c.67108A>T (p.Lys22370Ter)
2g.178532256T>CCA1985434TTN,TTN-AS1c.96655A>G (p.Lys32219Glu)
c.77740A>G (p.Lys25914Glu)
c.77539A>G (p.Lys25847Glu)
c.77164A>G (p.Lys25722Glu)
c.104359A>G (p.Lys34787Glu)
c.99436A>G (p.Lys33146Glu)
n.446+8620T>C
n.220-3476T>C
c.103456A>G (p.Lys34486Glu)
c.77350A>G (p.Lys25784Glu)
c.77209A>G (p.Lys25737Glu)
c.103252A>G (p.Lys34418Glu)
c.98650A>G (p.Lys32884Glu)
c.98647A>G (p.Lys32883Glu)
c.95689A>G (p.Lys31897Glu)
c.77305A>G (p.Lys25769Glu)
c.98800A>G (p.Lys32934Glu)
c.98797A>G (p.Lys32933Glu)
c.98230A>G (p.Lys32744Glu)
c.95572A>G (p.Lys31858Glu)
c.95491A>G (p.Lys31831Glu)
c.77254A>G (p.Lys25752Glu)
c.67108A>G (p.Lys22370Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532256T>GCA349411913TTN,TTN-AS1c.96655A>C (p.Lys32219Gln)
c.77740A>C (p.Lys25914Gln)
c.77539A>C (p.Lys25847Gln)
c.77164A>C (p.Lys25722Gln)
c.104359A>C (p.Lys34787Gln)
c.99436A>C (p.Lys33146Gln)
n.446+8620T>G
n.220-3476T>G
c.103456A>C (p.Lys34486Gln)
c.77350A>C (p.Lys25784Gln)
c.77209A>C (p.Lys25737Gln)
c.103252A>C (p.Lys34418Gln)
c.98650A>C (p.Lys32884Gln)
c.98647A>C (p.Lys32883Gln)
c.95689A>C (p.Lys31897Gln)
c.77305A>C (p.Lys25769Gln)
c.98800A>C (p.Lys32934Gln)
c.98797A>C (p.Lys32933Gln)
c.98230A>C (p.Lys32744Gln)
c.95572A>C (p.Lys31858Gln)
c.95491A>C (p.Lys31831Gln)
c.77254A>C (p.Lys25752Gln)
c.67108A>C (p.Lys22370Gln)
2g.178532256T=CA1310518147TTN,TTN-AS1c.96655A= (p.Lys32219=)
c.77740A= (p.Lys25914=)
c.77539A= (p.Lys25847=)
c.77164A= (p.Lys25722=)
c.104359A= (p.Lys34787=)
c.99436A= (p.Lys33146=)
n.446+8620T=
n.220-3476T=
c.103456A= (p.Lys34486=)
c.77350A= (p.Lys25784=)
c.77209A= (p.Lys25737=)
c.103252A= (p.Lys34418=)
c.98650A= (p.Lys32884=)
c.98647A= (p.Lys32883=)
c.95689A= (p.Lys31897=)
c.77305A= (p.Lys25769=)
c.98800A= (p.Lys32934=)
c.98797A= (p.Lys32933=)
c.98230A= (p.Lys32744=)
c.95572A= (p.Lys31858=)
c.95491A= (p.Lys31831=)
c.77254A= (p.Lys25752=)
c.67108A= (p.Lys22370=)
2g.178532257G>ACA430235953TTN,TTN-AS1c.96654C>T (p.Tyr32218=)
c.77739C>T (p.Tyr25913=)
c.77538C>T (p.Tyr25846=)
c.77163C>T (p.Tyr25721=)
c.104358C>T (p.Tyr34786=)
c.99435C>T (p.Tyr33145=)
n.446+8621G>A
n.220-3475G>A
c.103455C>T (p.Tyr34485=)
c.77349C>T (p.Tyr25783=)
c.77208C>T (p.Tyr25736=)
c.103251C>T (p.Tyr34417=)
c.98649C>T (p.Tyr32883=)
c.98646C>T (p.Tyr32882=)
c.95688C>T (p.Tyr31896=)
c.77304C>T (p.Tyr25768=)
c.98799C>T (p.Tyr32933=)
c.98796C>T (p.Tyr32932=)
c.98229C>T (p.Tyr32743=)
c.95571C>T (p.Tyr31857=)
c.95490C>T (p.Tyr31830=)
c.77253C>T (p.Tyr25751=)
c.67107C>T (p.Tyr22369=)
2g.178532257G>CCA349411915TTN,TTN-AS1c.96654C>G (p.Tyr32218Ter)
c.77739C>G (p.Tyr25913Ter)
c.77538C>G (p.Tyr25846Ter)
c.77163C>G (p.Tyr25721Ter)
c.104358C>G (p.Tyr34786Ter)
c.99435C>G (p.Tyr33145Ter)
n.446+8621G>C
n.220-3475G>C
c.103455C>G (p.Tyr34485Ter)
c.77349C>G (p.Tyr25783Ter)
c.77208C>G (p.Tyr25736Ter)
c.103251C>G (p.Tyr34417Ter)
c.98649C>G (p.Tyr32883Ter)
c.98646C>G (p.Tyr32882Ter)
c.95688C>G (p.Tyr31896Ter)
c.77304C>G (p.Tyr25768Ter)
c.98799C>G (p.Tyr32933Ter)
c.98796C>G (p.Tyr32932Ter)
c.98229C>G (p.Tyr32743Ter)
c.95571C>G (p.Tyr31857Ter)
c.95490C>G (p.Tyr31830Ter)
c.77253C>G (p.Tyr25751Ter)
c.67107C>G (p.Tyr22369Ter)
2g.178532257G>TCA349411916TTN,TTN-AS1c.96654C>A (p.Tyr32218Ter)
c.77739C>A (p.Tyr25913Ter)
c.77538C>A (p.Tyr25846Ter)
c.77163C>A (p.Tyr25721Ter)
c.104358C>A (p.Tyr34786Ter)
c.99435C>A (p.Tyr33145Ter)
n.446+8621G>T
n.220-3475G>T
c.103455C>A (p.Tyr34485Ter)
c.77349C>A (p.Tyr25783Ter)
c.77208C>A (p.Tyr25736Ter)
c.103251C>A (p.Tyr34417Ter)
c.98649C>A (p.Tyr32883Ter)
c.98646C>A (p.Tyr32882Ter)
c.95688C>A (p.Tyr31896Ter)
c.77304C>A (p.Tyr25768Ter)
c.98799C>A (p.Tyr32933Ter)
c.98796C>A (p.Tyr32932Ter)
c.98229C>A (p.Tyr32743Ter)
c.95571C>A (p.Tyr31857Ter)
c.95490C>A (p.Tyr31830Ter)
c.77253C>A (p.Tyr25751Ter)
c.67107C>A (p.Tyr22369Ter)
2g.178532258T>ACA349411917TTN,TTN-AS1c.96653A>T (p.Tyr32218Phe)
c.77738A>T (p.Tyr25913Phe)
c.77537A>T (p.Tyr25846Phe)
c.77162A>T (p.Tyr25721Phe)
c.104357A>T (p.Tyr34786Phe)
c.99434A>T (p.Tyr33145Phe)
n.446+8622T>A
n.220-3474T>A
c.103454A>T (p.Tyr34485Phe)
c.77348A>T (p.Tyr25783Phe)
c.77207A>T (p.Tyr25736Phe)
c.103250A>T (p.Tyr34417Phe)
c.98648A>T (p.Tyr32883Phe)
c.98645A>T (p.Tyr32882Phe)
c.95687A>T (p.Tyr31896Phe)
c.77303A>T (p.Tyr25768Phe)
c.98798A>T (p.Tyr32933Phe)
c.98795A>T (p.Tyr32932Phe)
c.98228A>T (p.Tyr32743Phe)
c.95570A>T (p.Tyr31857Phe)
c.95489A>T (p.Tyr31830Phe)
c.77252A>T (p.Tyr25751Phe)
c.67106A>T (p.Tyr22369Phe)
2g.178532258T>CCA349411918TTN,TTN-AS1c.96653A>G (p.Tyr32218Cys)
c.77738A>G (p.Tyr25913Cys)
c.77537A>G (p.Tyr25846Cys)
c.77162A>G (p.Tyr25721Cys)
c.104357A>G (p.Tyr34786Cys)
c.99434A>G (p.Tyr33145Cys)
n.446+8622T>C
n.220-3474T>C
c.103454A>G (p.Tyr34485Cys)
c.77348A>G (p.Tyr25783Cys)
c.77207A>G (p.Tyr25736Cys)
c.103250A>G (p.Tyr34417Cys)
c.98648A>G (p.Tyr32883Cys)
c.98645A>G (p.Tyr32882Cys)
c.95687A>G (p.Tyr31896Cys)
c.77303A>G (p.Tyr25768Cys)
c.98798A>G (p.Tyr32933Cys)
c.98795A>G (p.Tyr32932Cys)
c.98228A>G (p.Tyr32743Cys)
c.95570A>G (p.Tyr31857Cys)
c.95489A>G (p.Tyr31830Cys)
c.77252A>G (p.Tyr25751Cys)
c.67106A>G (p.Tyr22369Cys)
 ClinVar dbSNP
2g.178532258T>GCA349411919TTN,TTN-AS1c.96653A>C (p.Tyr32218Ser)
c.77738A>C (p.Tyr25913Ser)
c.77537A>C (p.Tyr25846Ser)
c.77162A>C (p.Tyr25721Ser)
c.104357A>C (p.Tyr34786Ser)
c.99434A>C (p.Tyr33145Ser)
n.446+8622T>G
n.220-3474T>G
c.103454A>C (p.Tyr34485Ser)
c.77348A>C (p.Tyr25783Ser)
c.77207A>C (p.Tyr25736Ser)
c.103250A>C (p.Tyr34417Ser)
c.98648A>C (p.Tyr32883Ser)
c.98645A>C (p.Tyr32882Ser)
c.95687A>C (p.Tyr31896Ser)
c.77303A>C (p.Tyr25768Ser)
c.98798A>C (p.Tyr32933Ser)
c.98795A>C (p.Tyr32932Ser)
c.98228A>C (p.Tyr32743Ser)
c.95570A>C (p.Tyr31857Ser)
c.95489A>C (p.Tyr31830Ser)
c.77252A>C (p.Tyr25751Ser)
c.67106A>C (p.Tyr22369Ser)
2g.178532258T=CA1310518148TTN,TTN-AS1c.96653A= (p.Tyr32218=)
c.77738A= (p.Tyr25913=)
c.77537A= (p.Tyr25846=)
c.77162A= (p.Tyr25721=)
c.104357A= (p.Tyr34786=)
c.99434A= (p.Tyr33145=)
n.446+8622T=
n.220-3474T=
c.103454A= (p.Tyr34485=)
c.77348A= (p.Tyr25783=)
c.77207A= (p.Tyr25736=)
c.103250A= (p.Tyr34417=)
c.98648A= (p.Tyr32883=)
c.98645A= (p.Tyr32882=)
c.95687A= (p.Tyr31896=)
c.77303A= (p.Tyr25768=)
c.98798A= (p.Tyr32933=)
c.98795A= (p.Tyr32932=)
c.98228A= (p.Tyr32743=)
c.95570A= (p.Tyr31857=)
c.95489A= (p.Tyr31830=)
c.77252A= (p.Tyr25751=)
c.67106A= (p.Tyr22369=)
2g.178532259A>CCA349411920TTN,TTN-AS1c.96652T>G (p.Tyr32218Asp)
c.77737T>G (p.Tyr25913Asp)
c.77536T>G (p.Tyr25846Asp)
c.77161T>G (p.Tyr25721Asp)
c.104356T>G (p.Tyr34786Asp)
c.99433T>G (p.Tyr33145Asp)
n.446+8623A>C
n.220-3473A>C
c.103453T>G (p.Tyr34485Asp)
c.77347T>G (p.Tyr25783Asp)
c.77206T>G (p.Tyr25736Asp)
c.103249T>G (p.Tyr34417Asp)
c.98647T>G (p.Tyr32883Asp)
c.98644T>G (p.Tyr32882Asp)
c.95686T>G (p.Tyr31896Asp)
c.77302T>G (p.Tyr25768Asp)
c.98797T>G (p.Tyr32933Asp)
c.98794T>G (p.Tyr32932Asp)
c.98227T>G (p.Tyr32743Asp)
c.95569T>G (p.Tyr31857Asp)
c.95488T>G (p.Tyr31830Asp)
c.77251T>G (p.Tyr25751Asp)
c.67105T>G (p.Tyr22369Asp)
2g.178532259A>GCA349411921TTN,TTN-AS1c.96652T>C (p.Tyr32218His)
c.77737T>C (p.Tyr25913His)
c.77536T>C (p.Tyr25846His)
c.77161T>C (p.Tyr25721His)
c.104356T>C (p.Tyr34786His)
c.99433T>C (p.Tyr33145His)
n.446+8623A>G
n.220-3473A>G
c.103453T>C (p.Tyr34485His)
c.77347T>C (p.Tyr25783His)
c.77206T>C (p.Tyr25736His)
c.103249T>C (p.Tyr34417His)
c.98647T>C (p.Tyr32883His)
c.98644T>C (p.Tyr32882His)
c.95686T>C (p.Tyr31896His)
c.77302T>C (p.Tyr25768His)
c.98797T>C (p.Tyr32933His)
c.98794T>C (p.Tyr32932His)
c.98227T>C (p.Tyr32743His)
c.95569T>C (p.Tyr31857His)
c.95488T>C (p.Tyr31830His)
c.77251T>C (p.Tyr25751His)
c.67105T>C (p.Tyr22369His)
 gnomAD v4
2g.178532259A>TCA349411922TTN,TTN-AS1c.96652T>A (p.Tyr32218Asn)
c.77737T>A (p.Tyr25913Asn)
c.77536T>A (p.Tyr25846Asn)
c.77161T>A (p.Tyr25721Asn)
c.104356T>A (p.Tyr34786Asn)
c.99433T>A (p.Tyr33145Asn)
n.446+8623A>T
n.220-3473A>T
c.103453T>A (p.Tyr34485Asn)
c.77347T>A (p.Tyr25783Asn)
c.77206T>A (p.Tyr25736Asn)
c.103249T>A (p.Tyr34417Asn)
c.98647T>A (p.Tyr32883Asn)
c.98644T>A (p.Tyr32882Asn)
c.95686T>A (p.Tyr31896Asn)
c.77302T>A (p.Tyr25768Asn)
c.98797T>A (p.Tyr32933Asn)
c.98794T>A (p.Tyr32932Asn)
c.98227T>A (p.Tyr32743Asn)
c.95569T>A (p.Tyr31857Asn)
c.95488T>A (p.Tyr31830Asn)
c.77251T>A (p.Tyr25751Asn)
c.67105T>A (p.Tyr22369Asn)
2g.178532260T>ACA349411923TTN,TTN-AS1c.96651A>T (p.Glu32217Asp)
c.77736A>T (p.Glu25912Asp)
c.77535A>T (p.Glu25845Asp)
c.77160A>T (p.Glu25720Asp)
c.104355A>T (p.Glu34785Asp)
c.99432A>T (p.Glu33144Asp)
n.446+8624T>A
n.220-3472T>A
c.103452A>T (p.Glu34484Asp)
c.77346A>T (p.Glu25782Asp)
c.77205A>T (p.Glu25735Asp)
c.103248A>T (p.Glu34416Asp)
c.98646A>T (p.Glu32882Asp)
c.98643A>T (p.Glu32881Asp)
c.95685A>T (p.Glu31895Asp)
c.77301A>T (p.Glu25767Asp)
c.98796A>T (p.Glu32932Asp)
c.98793A>T (p.Glu32931Asp)
c.98226A>T (p.Glu32742Asp)
c.95568A>T (p.Glu31856Asp)
c.95487A>T (p.Glu31829Asp)
c.77250A>T (p.Glu25750Asp)
c.67104A>T (p.Glu22368Asp)
2g.178532260T>CCA430235954TTN,TTN-AS1c.96651A>G (p.Glu32217=)
c.77736A>G (p.Glu25912=)
c.77535A>G (p.Glu25845=)
c.77160A>G (p.Glu25720=)
c.104355A>G (p.Glu34785=)
c.99432A>G (p.Glu33144=)
n.446+8624T>C
n.220-3472T>C
c.103452A>G (p.Glu34484=)
c.77346A>G (p.Glu25782=)
c.77205A>G (p.Glu25735=)
c.103248A>G (p.Glu34416=)
c.98646A>G (p.Glu32882=)
c.98643A>G (p.Glu32881=)
c.95685A>G (p.Glu31895=)
c.77301A>G (p.Glu25767=)
c.98796A>G (p.Glu32932=)
c.98793A>G (p.Glu32931=)
c.98226A>G (p.Glu32742=)
c.95568A>G (p.Glu31856=)
c.95487A>G (p.Glu31829=)
c.77250A>G (p.Glu25750=)
c.67104A>G (p.Glu22368=)
2g.178532260T>GCA349411924TTN,TTN-AS1c.96651A>C (p.Glu32217Asp)
c.77736A>C (p.Glu25912Asp)
c.77535A>C (p.Glu25845Asp)
c.77160A>C (p.Glu25720Asp)
c.104355A>C (p.Glu34785Asp)
c.99432A>C (p.Glu33144Asp)
n.446+8624T>G
n.220-3472T>G
c.103452A>C (p.Glu34484Asp)
c.77346A>C (p.Glu25782Asp)
c.77205A>C (p.Glu25735Asp)
c.103248A>C (p.Glu34416Asp)
c.98646A>C (p.Glu32882Asp)
c.98643A>C (p.Glu32881Asp)
c.95685A>C (p.Glu31895Asp)
c.77301A>C (p.Glu25767Asp)
c.98796A>C (p.Glu32932Asp)
c.98793A>C (p.Glu32931Asp)
c.98226A>C (p.Glu32742Asp)
c.95568A>C (p.Glu31856Asp)
c.95487A>C (p.Glu31829Asp)
c.77250A>C (p.Glu25750Asp)
c.67104A>C (p.Glu22368Asp)
2g.178532261T>ACA349411925TTN,TTN-AS1c.96650A>T (p.Glu32217Val)
c.77735A>T (p.Glu25912Val)
c.77534A>T (p.Glu25845Val)
c.77159A>T (p.Glu25720Val)
c.104354A>T (p.Glu34785Val)
c.99431A>T (p.Glu33144Val)
n.446+8625T>A
n.220-3471T>A
c.103451A>T (p.Glu34484Val)
c.77345A>T (p.Glu25782Val)
c.77204A>T (p.Glu25735Val)
c.103247A>T (p.Glu34416Val)
c.98645A>T (p.Glu32882Val)
c.98642A>T (p.Glu32881Val)
c.95684A>T (p.Glu31895Val)
c.77300A>T (p.Glu25767Val)
c.98795A>T (p.Glu32932Val)
c.98792A>T (p.Glu32931Val)
c.98225A>T (p.Glu32742Val)
c.95567A>T (p.Glu31856Val)
c.95486A>T (p.Glu31829Val)
c.77249A>T (p.Glu25750Val)
c.67103A>T (p.Glu22368Val)
 dbSNP
2g.178532261T>CCA349411926TTN,TTN-AS1c.96650A>G (p.Glu32217Gly)
c.77735A>G (p.Glu25912Gly)
c.77534A>G (p.Glu25845Gly)
c.77159A>G (p.Glu25720Gly)
c.104354A>G (p.Glu34785Gly)
c.99431A>G (p.Glu33144Gly)
n.446+8625T>C
n.220-3471T>C
c.103451A>G (p.Glu34484Gly)
c.77345A>G (p.Glu25782Gly)
c.77204A>G (p.Glu25735Gly)
c.103247A>G (p.Glu34416Gly)
c.98645A>G (p.Glu32882Gly)
c.98642A>G (p.Glu32881Gly)
c.95684A>G (p.Glu31895Gly)
c.77300A>G (p.Glu25767Gly)
c.98795A>G (p.Glu32932Gly)
c.98792A>G (p.Glu32931Gly)
c.98225A>G (p.Glu32742Gly)
c.95567A>G (p.Glu31856Gly)
c.95486A>G (p.Glu31829Gly)
c.77249A>G (p.Glu25750Gly)
c.67103A>G (p.Glu22368Gly)
2g.178532261T>GCA349411927TTN,TTN-AS1c.96650A>C (p.Glu32217Ala)
c.77735A>C (p.Glu25912Ala)
c.77534A>C (p.Glu25845Ala)
c.77159A>C (p.Glu25720Ala)
c.104354A>C (p.Glu34785Ala)
c.99431A>C (p.Glu33144Ala)
n.446+8625T>G
n.220-3471T>G
c.103451A>C (p.Glu34484Ala)
c.77345A>C (p.Glu25782Ala)
c.77204A>C (p.Glu25735Ala)
c.103247A>C (p.Glu34416Ala)
c.98645A>C (p.Glu32882Ala)
c.98642A>C (p.Glu32881Ala)
c.95684A>C (p.Glu31895Ala)
c.77300A>C (p.Glu25767Ala)
c.98795A>C (p.Glu32932Ala)
c.98792A>C (p.Glu32931Ala)
c.98225A>C (p.Glu32742Ala)
c.95567A>C (p.Glu31856Ala)
c.95486A>C (p.Glu31829Ala)
c.77249A>C (p.Glu25750Ala)
c.67103A>C (p.Glu22368Ala)
2g.178532261T=CA1310518149TTN,TTN-AS1c.96650A= (p.Glu32217=)
c.77735A= (p.Glu25912=)
c.77534A= (p.Glu25845=)
c.77159A= (p.Glu25720=)
c.104354A= (p.Glu34785=)
c.99431A= (p.Glu33144=)
n.446+8625T=
n.220-3471T=
c.103451A= (p.Glu34484=)
c.77345A= (p.Glu25782=)
c.77204A= (p.Glu25735=)
c.103247A= (p.Glu34416=)
c.98645A= (p.Glu32882=)
c.98642A= (p.Glu32881=)
c.95684A= (p.Glu31895=)
c.77300A= (p.Glu25767=)
c.98795A= (p.Glu32932=)
c.98792A= (p.Glu32931=)
c.98225A= (p.Glu32742=)
c.95567A= (p.Glu31856=)
c.95486A= (p.Glu31829=)
c.77249A= (p.Glu25750=)
c.67103A= (p.Glu22368=)
2g.178532262C>ACA349411929TTN,TTN-AS1c.96649G>T (p.Glu32217Ter)
c.77734G>T (p.Glu25912Ter)
c.77533G>T (p.Glu25845Ter)
c.77158G>T (p.Glu25720Ter)
c.104353G>T (p.Glu34785Ter)
c.99430G>T (p.Glu33144Ter)
n.446+8626C>A
n.220-3470C>A
c.103450G>T (p.Glu34484Ter)
c.77344G>T (p.Glu25782Ter)
c.77203G>T (p.Glu25735Ter)
c.103246G>T (p.Glu34416Ter)
c.98644G>T (p.Glu32882Ter)
c.98641G>T (p.Glu32881Ter)
c.95683G>T (p.Glu31895Ter)
c.77299G>T (p.Glu25767Ter)
c.98794G>T (p.Glu32932Ter)
c.98791G>T (p.Glu32931Ter)
c.98224G>T (p.Glu32742Ter)
c.95566G>T (p.Glu31856Ter)
c.95485G>T (p.Glu31829Ter)
c.77248G>T (p.Glu25750Ter)
c.67102G>T (p.Glu22368Ter)
2g.178532262C=CA1310518150TTN,TTN-AS1c.96649G= (p.Glu32217=)
c.77734G= (p.Glu25912=)
c.77533G= (p.Glu25845=)
c.77158G= (p.Glu25720=)
c.104353G= (p.Glu34785=)
c.99430G= (p.Glu33144=)
n.446+8626C=
n.220-3470C=
c.103450G= (p.Glu34484=)
c.77344G= (p.Glu25782=)
c.77203G= (p.Glu25735=)
c.103246G= (p.Glu34416=)
c.98644G= (p.Glu32882=)
c.98641G= (p.Glu32881=)
c.95683G= (p.Glu31895=)
c.77299G= (p.Glu25767=)
c.98794G= (p.Glu32932=)
c.98791G= (p.Glu32931=)
c.98224G= (p.Glu32742=)
c.95566G= (p.Glu31856=)
c.95485G= (p.Glu31829=)
c.77248G= (p.Glu25750=)
c.67102G= (p.Glu22368=)
2g.178532262C>GCA311175TTN,TTN-AS1c.96649G>C (p.Glu32217Gln)
c.77734G>C (p.Glu25912Gln)
c.77533G>C (p.Glu25845Gln)
c.77158G>C (p.Glu25720Gln)
c.104353G>C (p.Glu34785Gln)
c.99430G>C (p.Glu33144Gln)
n.446+8626C>G
n.220-3470C>G
c.103450G>C (p.Glu34484Gln)
c.77344G>C (p.Glu25782Gln)
c.77203G>C (p.Glu25735Gln)
c.103246G>C (p.Glu34416Gln)
c.98644G>C (p.Glu32882Gln)
c.98641G>C (p.Glu32881Gln)
c.95683G>C (p.Glu31895Gln)
c.77299G>C (p.Glu25767Gln)
c.98794G>C (p.Glu32932Gln)
c.98791G>C (p.Glu32931Gln)
c.98224G>C (p.Glu32742Gln)
c.95566G>C (p.Glu31856Gln)
c.95485G>C (p.Glu31829Gln)
c.77248G>C (p.Glu25750Gln)
c.67102G>C (p.Glu22368Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532262C>TCA349411928TTN,TTN-AS1c.96649G>A (p.Glu32217Lys)
c.77734G>A (p.Glu25912Lys)
c.77533G>A (p.Glu25845Lys)
c.77158G>A (p.Glu25720Lys)
c.104353G>A (p.Glu34785Lys)
c.99430G>A (p.Glu33144Lys)
n.446+8626C>T
n.220-3470C>T
c.103450G>A (p.Glu34484Lys)
c.77344G>A (p.Glu25782Lys)
c.77203G>A (p.Glu25735Lys)
c.103246G>A (p.Glu34416Lys)
c.98644G>A (p.Glu32882Lys)
c.98641G>A (p.Glu32881Lys)
c.95683G>A (p.Glu31895Lys)
c.77299G>A (p.Glu25767Lys)
c.98794G>A (p.Glu32932Lys)
c.98791G>A (p.Glu32931Lys)
c.98224G>A (p.Glu32742Lys)
c.95566G>A (p.Glu31856Lys)
c.95485G>A (p.Glu31829Lys)
c.77248G>A (p.Glu25750Lys)
c.67102G>A (p.Glu22368Lys)
 gnomAD v4
2g.178532263T>ACA430235955TTN,TTN-AS1c.96648A>T (p.Ser32216=)
c.77733A>T (p.Ser25911=)
c.77532A>T (p.Ser25844=)
c.77157A>T (p.Ser25719=)
c.104352A>T (p.Ser34784=)
c.99429A>T (p.Ser33143=)
n.446+8627T>A
n.220-3469T>A
c.103449A>T (p.Ser34483=)
c.77343A>T (p.Ser25781=)
c.77202A>T (p.Ser25734=)
c.103245A>T (p.Ser34415=)
c.98643A>T (p.Ser32881=)
c.98640A>T (p.Ser32880=)
c.95682A>T (p.Ser31894=)
c.77298A>T (p.Ser25766=)
c.98793A>T (p.Ser32931=)
c.98790A>T (p.Ser32930=)
c.98223A>T (p.Ser32741=)
c.95565A>T (p.Ser31855=)
c.95484A>T (p.Ser31828=)
c.77247A>T (p.Ser25749=)
c.67101A>T (p.Ser22367=)
2g.178532263T>CCA430235956TTN,TTN-AS1c.96648A>G (p.Ser32216=)
c.77733A>G (p.Ser25911=)
c.77532A>G (p.Ser25844=)
c.77157A>G (p.Ser25719=)
c.104352A>G (p.Ser34784=)
c.99429A>G (p.Ser33143=)
n.446+8627T>C
n.220-3469T>C
c.103449A>G (p.Ser34483=)
c.77343A>G (p.Ser25781=)
c.77202A>G (p.Ser25734=)
c.103245A>G (p.Ser34415=)
c.98643A>G (p.Ser32881=)
c.98640A>G (p.Ser32880=)
c.95682A>G (p.Ser31894=)
c.77298A>G (p.Ser25766=)
c.98793A>G (p.Ser32931=)
c.98790A>G (p.Ser32930=)
c.98223A>G (p.Ser32741=)
c.95565A>G (p.Ser31855=)
c.95484A>G (p.Ser31828=)
c.77247A>G (p.Ser25749=)
c.67101A>G (p.Ser22367=)
 ClinVar
2g.178532263T>GCA430235957TTN,TTN-AS1c.96648A>C (p.Ser32216=)
c.77733A>C (p.Ser25911=)
c.77532A>C (p.Ser25844=)
c.77157A>C (p.Ser25719=)
c.104352A>C (p.Ser34784=)
c.99429A>C (p.Ser33143=)
n.446+8627T>G
n.220-3469T>G
c.103449A>C (p.Ser34483=)
c.77343A>C (p.Ser25781=)
c.77202A>C (p.Ser25734=)
c.103245A>C (p.Ser34415=)
c.98643A>C (p.Ser32881=)
c.98640A>C (p.Ser32880=)
c.95682A>C (p.Ser31894=)
c.77298A>C (p.Ser25766=)
c.98793A>C (p.Ser32931=)
c.98790A>C (p.Ser32930=)
c.98223A>C (p.Ser32741=)
c.95565A>C (p.Ser31855=)
c.95484A>C (p.Ser31828=)
c.77247A>C (p.Ser25749=)
c.67101A>C (p.Ser22367=)
2g.178532264G>ACA349411930TTN,TTN-AS1c.96647C>T (p.Ser32216Leu)
c.77732C>T (p.Ser25911Leu)
c.77531C>T (p.Ser25844Leu)
c.77156C>T (p.Ser25719Leu)
c.104351C>T (p.Ser34784Leu)
c.99428C>T (p.Ser33143Leu)
n.446+8628G>A
n.220-3468G>A
c.103448C>T (p.Ser34483Leu)
c.77342C>T (p.Ser25781Leu)
c.77201C>T (p.Ser25734Leu)
c.103244C>T (p.Ser34415Leu)
c.98642C>T (p.Ser32881Leu)
c.98639C>T (p.Ser32880Leu)
c.95681C>T (p.Ser31894Leu)
c.77297C>T (p.Ser25766Leu)
c.98792C>T (p.Ser32931Leu)
c.98789C>T (p.Ser32930Leu)
c.98222C>T (p.Ser32741Leu)
c.95564C>T (p.Ser31855Leu)
c.95483C>T (p.Ser31828Leu)
c.77246C>T (p.Ser25749Leu)
c.67100C>T (p.Ser22367Leu)
2g.178532264G>CCA349411931TTN,TTN-AS1c.96647C>G (p.Ser32216Ter)
c.77732C>G (p.Ser25911Ter)
c.77531C>G (p.Ser25844Ter)
c.77156C>G (p.Ser25719Ter)
c.104351C>G (p.Ser34784Ter)
c.99428C>G (p.Ser33143Ter)
n.446+8628G>C
n.220-3468G>C
c.103448C>G (p.Ser34483Ter)
c.77342C>G (p.Ser25781Ter)
c.77201C>G (p.Ser25734Ter)
c.103244C>G (p.Ser34415Ter)
c.98642C>G (p.Ser32881Ter)
c.98639C>G (p.Ser32880Ter)
c.95681C>G (p.Ser31894Ter)
c.77297C>G (p.Ser25766Ter)
c.98792C>G (p.Ser32931Ter)
c.98789C>G (p.Ser32930Ter)
c.98222C>G (p.Ser32741Ter)
c.95564C>G (p.Ser31855Ter)
c.95483C>G (p.Ser31828Ter)
c.77246C>G (p.Ser25749Ter)
c.67100C>G (p.Ser22367Ter)
2g.178532264G>TCA349411932TTN,TTN-AS1c.96647C>A (p.Ser32216Ter)
c.77732C>A (p.Ser25911Ter)
c.77531C>A (p.Ser25844Ter)
c.77156C>A (p.Ser25719Ter)
c.104351C>A (p.Ser34784Ter)
c.99428C>A (p.Ser33143Ter)
n.446+8628G>T
n.220-3468G>T
c.103448C>A (p.Ser34483Ter)
c.77342C>A (p.Ser25781Ter)
c.77201C>A (p.Ser25734Ter)
c.103244C>A (p.Ser34415Ter)
c.98642C>A (p.Ser32881Ter)
c.98639C>A (p.Ser32880Ter)
c.95681C>A (p.Ser31894Ter)
c.77297C>A (p.Ser25766Ter)
c.98792C>A (p.Ser32931Ter)
c.98789C>A (p.Ser32930Ter)
c.98222C>A (p.Ser32741Ter)
c.95564C>A (p.Ser31855Ter)
c.95483C>A (p.Ser31828Ter)
c.77246C>A (p.Ser25749Ter)
c.67100C>A (p.Ser22367Ter)
2g.178532265A>CCA349411933TTN,TTN-AS1c.96646T>G (p.Ser32216Ala)
c.77731T>G (p.Ser25911Ala)
c.77530T>G (p.Ser25844Ala)
c.77155T>G (p.Ser25719Ala)
c.104350T>G (p.Ser34784Ala)
c.99427T>G (p.Ser33143Ala)
n.446+8629A>C
n.220-3467A>C
c.103447T>G (p.Ser34483Ala)
c.77341T>G (p.Ser25781Ala)
c.77200T>G (p.Ser25734Ala)
c.103243T>G (p.Ser34415Ala)
c.98641T>G (p.Ser32881Ala)
c.98638T>G (p.Ser32880Ala)
c.95680T>G (p.Ser31894Ala)
c.77296T>G (p.Ser25766Ala)
c.98791T>G (p.Ser32931Ala)
c.98788T>G (p.Ser32930Ala)
c.98221T>G (p.Ser32741Ala)
c.95563T>G (p.Ser31855Ala)
c.95482T>G (p.Ser31828Ala)
c.77245T>G (p.Ser25749Ala)
c.67099T>G (p.Ser22367Ala)
2g.178532265A>GCA349411934TTN,TTN-AS1c.96646T>C (p.Ser32216Pro)
c.77731T>C (p.Ser25911Pro)
c.77530T>C (p.Ser25844Pro)
c.77155T>C (p.Ser25719Pro)
c.104350T>C (p.Ser34784Pro)
c.99427T>C (p.Ser33143Pro)
n.446+8629A>G
n.220-3467A>G
c.103447T>C (p.Ser34483Pro)
c.77341T>C (p.Ser25781Pro)
c.77200T>C (p.Ser25734Pro)
c.103243T>C (p.Ser34415Pro)
c.98641T>C (p.Ser32881Pro)
c.98638T>C (p.Ser32880Pro)
c.95680T>C (p.Ser31894Pro)
c.77296T>C (p.Ser25766Pro)
c.98791T>C (p.Ser32931Pro)
c.98788T>C (p.Ser32930Pro)
c.98221T>C (p.Ser32741Pro)
c.95563T>C (p.Ser31855Pro)
c.95482T>C (p.Ser31828Pro)
c.77245T>C (p.Ser25749Pro)
c.67099T>C (p.Ser22367Pro)
2g.178532265A>TCA349411935TTN,TTN-AS1c.96646T>A (p.Ser32216Thr)
c.77731T>A (p.Ser25911Thr)
c.77530T>A (p.Ser25844Thr)
c.77155T>A (p.Ser25719Thr)
c.104350T>A (p.Ser34784Thr)
c.99427T>A (p.Ser33143Thr)
n.446+8629A>T
n.220-3467A>T
c.103447T>A (p.Ser34483Thr)
c.77341T>A (p.Ser25781Thr)
c.77200T>A (p.Ser25734Thr)
c.103243T>A (p.Ser34415Thr)
c.98641T>A (p.Ser32881Thr)
c.98638T>A (p.Ser32880Thr)
c.95680T>A (p.Ser31894Thr)
c.77296T>A (p.Ser25766Thr)
c.98791T>A (p.Ser32931Thr)
c.98788T>A (p.Ser32930Thr)
c.98221T>A (p.Ser32741Thr)
c.95563T>A (p.Ser31855Thr)
c.95482T>A (p.Ser31828Thr)
c.77245T>A (p.Ser25749Thr)
c.67099T>A (p.Ser22367Thr)
2g.178532266G>ACA1985435TTN,TTN-AS1c.96645C>T (p.Leu32215=)
c.77730C>T (p.Leu25910=)
c.77529C>T (p.Leu25843=)
c.77154C>T (p.Leu25718=)
c.104349C>T (p.Leu34783=)
c.99426C>T (p.Leu33142=)
n.446+8630G>A
n.220-3466G>A
c.103446C>T (p.Leu34482=)
c.77340C>T (p.Leu25780=)
c.77199C>T (p.Leu25733=)
c.103242C>T (p.Leu34414=)
c.98640C>T (p.Leu32880=)
c.98637C>T (p.Leu32879=)
c.95679C>T (p.Leu31893=)
c.77295C>T (p.Leu25765=)
c.98790C>T (p.Leu32930=)
c.98787C>T (p.Leu32929=)
c.98220C>T (p.Leu32740=)
c.95562C>T (p.Leu31854=)
c.95481C>T (p.Leu31827=)
c.77244C>T (p.Leu25748=)
c.67098C>T (p.Leu22366=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532266G>CCA430235958TTN,TTN-AS1c.96645C>G (p.Leu32215=)
c.77730C>G (p.Leu25910=)
c.77529C>G (p.Leu25843=)
c.77154C>G (p.Leu25718=)
c.104349C>G (p.Leu34783=)
c.99426C>G (p.Leu33142=)
n.446+8630G>C
n.220-3466G>C
c.103446C>G (p.Leu34482=)
c.77340C>G (p.Leu25780=)
c.77199C>G (p.Leu25733=)
c.103242C>G (p.Leu34414=)
c.98640C>G (p.Leu32880=)
c.98637C>G (p.Leu32879=)
c.95679C>G (p.Leu31893=)
c.77295C>G (p.Leu25765=)
c.98790C>G (p.Leu32930=)
c.98787C>G (p.Leu32929=)
c.98220C>G (p.Leu32740=)
c.95562C>G (p.Leu31854=)
c.95481C>G (p.Leu31827=)
c.77244C>G (p.Leu25748=)
c.67098C>G (p.Leu22366=)
2g.178532266G=CA1310518151TTN,TTN-AS1c.96645C= (p.Leu32215=)
c.77730C= (p.Leu25910=)
c.77529C= (p.Leu25843=)
c.77154C= (p.Leu25718=)
c.104349C= (p.Leu34783=)
c.99426C= (p.Leu33142=)
n.446+8630G=
n.220-3466G=
c.103446C= (p.Leu34482=)
c.77340C= (p.Leu25780=)
c.77199C= (p.Leu25733=)
c.103242C= (p.Leu34414=)
c.98640C= (p.Leu32880=)
c.98637C= (p.Leu32879=)
c.95679C= (p.Leu31893=)
c.77295C= (p.Leu25765=)
c.98790C= (p.Leu32930=)
c.98787C= (p.Leu32929=)
c.98220C= (p.Leu32740=)
c.95562C= (p.Leu31854=)
c.95481C= (p.Leu31827=)
c.77244C= (p.Leu25748=)
c.67098C= (p.Leu22366=)
2g.178532266G>TCA430235959TTN,TTN-AS1c.96645C>A (p.Leu32215=)
c.77730C>A (p.Leu25910=)
c.77529C>A (p.Leu25843=)
c.77154C>A (p.Leu25718=)
c.104349C>A (p.Leu34783=)
c.99426C>A (p.Leu33142=)
n.446+8630G>T
n.220-3466G>T
c.103446C>A (p.Leu34482=)
c.77340C>A (p.Leu25780=)
c.77199C>A (p.Leu25733=)
c.103242C>A (p.Leu34414=)
c.98640C>A (p.Leu32880=)
c.98637C>A (p.Leu32879=)
c.95679C>A (p.Leu31893=)
c.77295C>A (p.Leu25765=)
c.98790C>A (p.Leu32930=)
c.98787C>A (p.Leu32929=)
c.98220C>A (p.Leu32740=)
c.95562C>A (p.Leu31854=)
c.95481C>A (p.Leu31827=)
c.77244C>A (p.Leu25748=)
c.67098C>A (p.Leu22366=)
 gnomAD v4
2g.178532267A=CA1310518152TTN,TTN-AS1c.96644T= (p.Leu32215=)
c.77729T= (p.Leu25910=)
c.77528T= (p.Leu25843=)
c.77153T= (p.Leu25718=)
c.104348T= (p.Leu34783=)
c.99425T= (p.Leu33142=)
n.446+8631A=
n.220-3465A=
c.103445T= (p.Leu34482=)
c.77339T= (p.Leu25780=)
c.77198T= (p.Leu25733=)
c.103241T= (p.Leu34414=)
c.98639T= (p.Leu32880=)
c.98636T= (p.Leu32879=)
c.95678T= (p.Leu31893=)
c.77294T= (p.Leu25765=)
c.98789T= (p.Leu32930=)
c.98786T= (p.Leu32929=)
c.98219T= (p.Leu32740=)
c.95561T= (p.Leu31854=)
c.95480T= (p.Leu31827=)
c.77243T= (p.Leu25748=)
c.67097T= (p.Leu22366=)
2g.178532267A>CCA349411936TTN,TTN-AS1c.96644T>G (p.Leu32215Arg)
c.77729T>G (p.Leu25910Arg)
c.77528T>G (p.Leu25843Arg)
c.77153T>G (p.Leu25718Arg)
c.104348T>G (p.Leu34783Arg)
c.99425T>G (p.Leu33142Arg)
n.446+8631A>C
n.220-3465A>C
c.103445T>G (p.Leu34482Arg)
c.77339T>G (p.Leu25780Arg)
c.77198T>G (p.Leu25733Arg)
c.103241T>G (p.Leu34414Arg)
c.98639T>G (p.Leu32880Arg)
c.98636T>G (p.Leu32879Arg)
c.95678T>G (p.Leu31893Arg)
c.77294T>G (p.Leu25765Arg)
c.98789T>G (p.Leu32930Arg)
c.98786T>G (p.Leu32929Arg)
c.98219T>G (p.Leu32740Arg)
c.95561T>G (p.Leu31854Arg)
c.95480T>G (p.Leu31827Arg)
c.77243T>G (p.Leu25748Arg)
c.67097T>G (p.Leu22366Arg)
2g.178532267A>GCA349411937TTN,TTN-AS1c.96644T>C (p.Leu32215Pro)
c.77729T>C (p.Leu25910Pro)
c.77528T>C (p.Leu25843Pro)
c.77153T>C (p.Leu25718Pro)
c.104348T>C (p.Leu34783Pro)
c.99425T>C (p.Leu33142Pro)
n.446+8631A>G
n.220-3465A>G
c.103445T>C (p.Leu34482Pro)
c.77339T>C (p.Leu25780Pro)
c.77198T>C (p.Leu25733Pro)
c.103241T>C (p.Leu34414Pro)
c.98639T>C (p.Leu32880Pro)
c.98636T>C (p.Leu32879Pro)
c.95678T>C (p.Leu31893Pro)
c.77294T>C (p.Leu25765Pro)
c.98789T>C (p.Leu32930Pro)
c.98786T>C (p.Leu32929Pro)
c.98219T>C (p.Leu32740Pro)
c.95561T>C (p.Leu31854Pro)
c.95480T>C (p.Leu31827Pro)
c.77243T>C (p.Leu25748Pro)
c.67097T>C (p.Leu22366Pro)
2g.178532267A>TCA349411938TTN,TTN-AS1c.96644T>A (p.Leu32215His)
c.77729T>A (p.Leu25910His)
c.77528T>A (p.Leu25843His)
c.77153T>A (p.Leu25718His)
c.104348T>A (p.Leu34783His)
c.99425T>A (p.Leu33142His)
n.446+8631A>T
n.220-3465A>T
c.103445T>A (p.Leu34482His)
c.77339T>A (p.Leu25780His)
c.77198T>A (p.Leu25733His)
c.103241T>A (p.Leu34414His)
c.98639T>A (p.Leu32880His)
c.98636T>A (p.Leu32879His)
c.95678T>A (p.Leu31893His)
c.77294T>A (p.Leu25765His)
c.98789T>A (p.Leu32930His)
c.98786T>A (p.Leu32929His)
c.98219T>A (p.Leu32740His)
c.95561T>A (p.Leu31854His)
c.95480T>A (p.Leu31827His)
c.77243T>A (p.Leu25748His)
c.67097T>A (p.Leu22366His)
2g.178532268G>ACA1985436TTN,TTN-AS1c.96643C>T (p.Leu32215Phe)
c.77728C>T (p.Leu25910Phe)
c.77527C>T (p.Leu25843Phe)
c.77152C>T (p.Leu25718Phe)
c.104347C>T (p.Leu34783Phe)
c.99424C>T (p.Leu33142Phe)
n.446+8632G>A
n.220-3464G>A
c.103444C>T (p.Leu34482Phe)
c.77338C>T (p.Leu25780Phe)
c.77197C>T (p.Leu25733Phe)
c.103240C>T (p.Leu34414Phe)
c.98638C>T (p.Leu32880Phe)
c.98635C>T (p.Leu32879Phe)
c.95677C>T (p.Leu31893Phe)
c.77293C>T (p.Leu25765Phe)
c.98788C>T (p.Leu32930Phe)
c.98785C>T (p.Leu32929Phe)
c.98218C>T (p.Leu32740Phe)
c.95560C>T (p.Leu31854Phe)
c.95479C>T (p.Leu31827Phe)
c.77242C>T (p.Leu25748Phe)
c.67096C>T (p.Leu22366Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532268G>CCA349411939TTN,TTN-AS1c.96643C>G (p.Leu32215Val)
c.77728C>G (p.Leu25910Val)
c.77527C>G (p.Leu25843Val)
c.77152C>G (p.Leu25718Val)
c.104347C>G (p.Leu34783Val)
c.99424C>G (p.Leu33142Val)
n.446+8632G>C
n.220-3464G>C
c.103444C>G (p.Leu34482Val)
c.77338C>G (p.Leu25780Val)
c.77197C>G (p.Leu25733Val)
c.103240C>G (p.Leu34414Val)
c.98638C>G (p.Leu32880Val)
c.98635C>G (p.Leu32879Val)
c.95677C>G (p.Leu31893Val)
c.77293C>G (p.Leu25765Val)
c.98788C>G (p.Leu32930Val)
c.98785C>G (p.Leu32929Val)
c.98218C>G (p.Leu32740Val)
c.95560C>G (p.Leu31854Val)
c.95479C>G (p.Leu31827Val)
c.77242C>G (p.Leu25748Val)
c.67096C>G (p.Leu22366Val)
2g.178532268G=CA1310518154TTN,TTN-AS1c.96643C= (p.Leu32215=)
c.77728C= (p.Leu25910=)
c.77527C= (p.Leu25843=)
c.77152C= (p.Leu25718=)
c.104347C= (p.Leu34783=)
c.99424C= (p.Leu33142=)
n.446+8632G=
n.220-3464G=
c.103444C= (p.Leu34482=)
c.77338C= (p.Leu25780=)
c.77197C= (p.Leu25733=)
c.103240C= (p.Leu34414=)
c.98638C= (p.Leu32880=)
c.98635C= (p.Leu32879=)
c.95677C= (p.Leu31893=)
c.77293C= (p.Leu25765=)
c.98788C= (p.Leu32930=)
c.98785C= (p.Leu32929=)
c.98218C= (p.Leu32740=)
c.95560C= (p.Leu31854=)
c.95479C= (p.Leu31827=)
c.77242C= (p.Leu25748=)
c.67096C= (p.Leu22366=)
2g.178532268G>TCA349411940TTN,TTN-AS1c.96643C>A (p.Leu32215Ile)
c.77728C>A (p.Leu25910Ile)
c.77527C>A (p.Leu25843Ile)
c.77152C>A (p.Leu25718Ile)
c.104347C>A (p.Leu34783Ile)
c.99424C>A (p.Leu33142Ile)
n.446+8632G>T
n.220-3464G>T
c.103444C>A (p.Leu34482Ile)
c.77338C>A (p.Leu25780Ile)
c.77197C>A (p.Leu25733Ile)
c.103240C>A (p.Leu34414Ile)
c.98638C>A (p.Leu32880Ile)
c.98635C>A (p.Leu32879Ile)
c.95677C>A (p.Leu31893Ile)
c.77293C>A (p.Leu25765Ile)
c.98788C>A (p.Leu32930Ile)
c.98785C>A (p.Leu32929Ile)
c.98218C>A (p.Leu32740Ile)
c.95560C>A (p.Leu31854Ile)
c.95479C>A (p.Leu31827Ile)
c.77242C>A (p.Leu25748Ile)
c.67096C>A (p.Leu22366Ile)
2g.178532268_178532269insGGAGGCA1310518153TTN,TTN-AS1c.96643_96644insCTCCC (p.Leu32215ProfsTer29)
c.77728_77729insCTCCC (p.Leu25910ProfsTer29)
c.77527_77528insCTCCC (p.Leu25843ProfsTer29)
c.77152_77153insCTCCC (p.Leu25718ProfsTer29)
c.104347_104348insCTCCC (p.Leu34783ProfsTer29)
c.99424_99425insCTCCC (p.Leu33142ProfsTer29)
n.446+8632_446+8633insGGAGG
n.220-3464_220-3463insGGAGG
c.103444_103445insCTCCC (p.Leu34482ProfsTer29)
c.77338_77339insCTCCC (p.Leu25780ProfsTer29)
c.77197_77198insCTCCC (p.Leu25733ProfsTer29)
c.103240_103241insCTCCC (p.Leu34414ProfsTer29)
c.98638_98639insCTCCC (p.Leu32880ProfsTer29)
c.98635_98636insCTCCC (p.Leu32879ProfsTer29)
c.95677_95678insCTCCC (p.Leu31893ProfsTer29)
c.77293_77294insCTCCC (p.Leu25765ProfsTer29)
c.98788_98789insCTCCC (p.Leu32930ProfsTer29)
c.98785_98786insCTCCC (p.Leu32929ProfsTer29)
c.98218_98219insCTCCC (p.Leu32740ProfsTer29)
c.95560_95561insCTCCC (p.Leu31854ProfsTer29)
c.95479_95480insCTCCC (p.Leu31827ProfsTer29)
c.77242_77243insCTCCC (p.Leu25748ProfsTer29)
c.67096_67097insCTCCC (p.Leu22366ProfsTer29)
 dbSNP
2g.178532269A=CA1310518155TTN,TTN-AS1c.96642T= (p.His32214=)
c.77727T= (p.His25909=)
c.77526T= (p.His25842=)
c.77151T= (p.His25717=)
c.104346T= (p.His34782=)
c.99423T= (p.His33141=)
n.446+8633A=
n.220-3463A=
c.103443T= (p.His34481=)
c.77337T= (p.His25779=)
c.77196T= (p.His25732=)
c.103239T= (p.His34413=)
c.98637T= (p.His32879=)
c.98634T= (p.His32878=)
c.95676T= (p.His31892=)
c.77292T= (p.His25764=)
c.98787T= (p.His32929=)
c.98784T= (p.His32928=)
c.98217T= (p.His32739=)
c.95559T= (p.His31853=)
c.95478T= (p.His31826=)
c.77241T= (p.His25747=)
c.67095T= (p.His22365=)
2g.178532269A>CCA349411942TTN,TTN-AS1c.96642T>G (p.His32214Gln)
c.77727T>G (p.His25909Gln)
c.77526T>G (p.His25842Gln)
c.77151T>G (p.His25717Gln)
c.104346T>G (p.His34782Gln)
c.99423T>G (p.His33141Gln)
n.446+8633A>C
n.220-3463A>C
c.103443T>G (p.His34481Gln)
c.77337T>G (p.His25779Gln)
c.77196T>G (p.His25732Gln)
c.103239T>G (p.His34413Gln)
c.98637T>G (p.His32879Gln)
c.98634T>G (p.His32878Gln)
c.95676T>G (p.His31892Gln)
c.77292T>G (p.His25764Gln)
c.98787T>G (p.His32929Gln)
c.98784T>G (p.His32928Gln)
c.98217T>G (p.His32739Gln)
c.95559T>G (p.His31853Gln)
c.95478T>G (p.His31826Gln)
c.77241T>G (p.His25747Gln)
c.67095T>G (p.His22365Gln)
2g.178532269A>GCA1985437TTN,TTN-AS1c.96642T>C (p.His32214=)
c.77727T>C (p.His25909=)
c.77526T>C (p.His25842=)
c.77151T>C (p.His25717=)
c.104346T>C (p.His34782=)
c.99423T>C (p.His33141=)
n.446+8633A>G
n.220-3463A>G
c.103443T>C (p.His34481=)
c.77337T>C (p.His25779=)
c.77196T>C (p.His25732=)
c.103239T>C (p.His34413=)
c.98637T>C (p.His32879=)
c.98634T>C (p.His32878=)
c.95676T>C (p.His31892=)
c.77292T>C (p.His25764=)
c.98787T>C (p.His32929=)
c.98784T>C (p.His32928=)
c.98217T>C (p.His32739=)
c.95559T>C (p.His31853=)
c.95478T>C (p.His31826=)
c.77241T>C (p.His25747=)
c.67095T>C (p.His22365=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178532269A>TCA349411941TTN,TTN-AS1c.96642T>A (p.His32214Gln)
c.77727T>A (p.His25909Gln)
c.77526T>A (p.His25842Gln)
c.77151T>A (p.His25717Gln)
c.104346T>A (p.His34782Gln)
c.99423T>A (p.His33141Gln)
n.446+8633A>T
n.220-3463A>T
c.103443T>A (p.His34481Gln)
c.77337T>A (p.His25779Gln)
c.77196T>A (p.His25732Gln)
c.103239T>A (p.His34413Gln)
c.98637T>A (p.His32879Gln)
c.98634T>A (p.His32878Gln)
c.95676T>A (p.His31892Gln)
c.77292T>A (p.His25764Gln)
c.98787T>A (p.His32929Gln)
c.98784T>A (p.His32928Gln)
c.98217T>A (p.His32739Gln)
c.95559T>A (p.His31853Gln)
c.95478T>A (p.His31826Gln)
c.77241T>A (p.His25747Gln)
c.67095T>A (p.His22365Gln)
2g.178532270T>ACA349411943TTN,TTN-AS1c.96641A>T (p.His32214Leu)
c.77726A>T (p.His25909Leu)
c.77525A>T (p.His25842Leu)
c.77150A>T (p.His25717Leu)
c.104345A>T (p.His34782Leu)
c.99422A>T (p.His33141Leu)
n.446+8634T>A
n.220-3462T>A
c.103442A>T (p.His34481Leu)
c.77336A>T (p.His25779Leu)
c.77195A>T (p.His25732Leu)
c.103238A>T (p.His34413Leu)
c.98636A>T (p.His32879Leu)
c.98633A>T (p.His32878Leu)
c.95675A>T (p.His31892Leu)
c.77291A>T (p.His25764Leu)
c.98786A>T (p.His32929Leu)
c.98783A>T (p.His32928Leu)
c.98216A>T (p.His32739Leu)
c.95558A>T (p.His31853Leu)
c.95477A>T (p.His31826Leu)
c.77240A>T (p.His25747Leu)
c.67094A>T (p.His22365Leu)
2g.178532270T>CCA60956298TTN,TTN-AS1c.96641A>G (p.His32214Arg)
c.77726A>G (p.His25909Arg)
c.77525A>G (p.His25842Arg)
c.77150A>G (p.His25717Arg)
c.104345A>G (p.His34782Arg)
c.99422A>G (p.His33141Arg)
n.446+8634T>C
n.220-3462T>C
c.103442A>G (p.His34481Arg)
c.77336A>G (p.His25779Arg)
c.77195A>G (p.His25732Arg)
c.103238A>G (p.His34413Arg)
c.98636A>G (p.His32879Arg)
c.98633A>G (p.His32878Arg)
c.95675A>G (p.His31892Arg)
c.77291A>G (p.His25764Arg)
c.98786A>G (p.His32929Arg)
c.98783A>G (p.His32928Arg)
c.98216A>G (p.His32739Arg)
c.95558A>G (p.His31853Arg)
c.95477A>G (p.His31826Arg)
c.77240A>G (p.His25747Arg)
c.67094A>G (p.His22365Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.178532270T>GCA349411944TTN,TTN-AS1c.96641A>C (p.His32214Pro)
c.77726A>C (p.His25909Pro)
c.77525A>C (p.His25842Pro)
c.77150A>C (p.His25717Pro)
c.104345A>C (p.His34782Pro)
c.99422A>C (p.His33141Pro)
n.446+8634T>G
n.220-3462T>G
c.103442A>C (p.His34481Pro)
c.77336A>C (p.His25779Pro)
c.77195A>C (p.His25732Pro)
c.103238A>C (p.His34413Pro)
c.98636A>C (p.His32879Pro)
c.98633A>C (p.His32878Pro)
c.95675A>C (p.His31892Pro)
c.77291A>C (p.His25764Pro)
c.98786A>C (p.His32929Pro)
c.98783A>C (p.His32928Pro)
c.98216A>C (p.His32739Pro)
c.95558A>C (p.His31853Pro)
c.95477A>C (p.His31826Pro)
c.77240A>C (p.His25747Pro)
c.67094A>C (p.His22365Pro)
2g.178532270T=CA1310518156TTN,TTN-AS1c.96641A= (p.His32214=)
c.77726A= (p.His25909=)
c.77525A= (p.His25842=)
c.77150A= (p.His25717=)
c.104345A= (p.His34782=)
c.99422A= (p.His33141=)
n.446+8634T=
n.220-3462T=
c.103442A= (p.His34481=)
c.77336A= (p.His25779=)
c.77195A= (p.His25732=)
c.103238A= (p.His34413=)
c.98636A= (p.His32879=)
c.98633A= (p.His32878=)
c.95675A= (p.His31892=)
c.77291A= (p.His25764=)
c.98786A= (p.His32929=)
c.98783A= (p.His32928=)
c.98216A= (p.His32739=)
c.95558A= (p.His31853=)
c.95477A= (p.His31826=)
c.77240A= (p.His25747=)
c.67094A= (p.His22365=)
2g.178532271G>ACA349411945TTN,TTN-AS1c.96640C>T (p.His32214Tyr)
c.77725C>T (p.His25909Tyr)
c.77524C>T (p.His25842Tyr)
c.77149C>T (p.His25717Tyr)
c.104344C>T (p.His34782Tyr)
c.99421C>T (p.His33141Tyr)
n.446+8635G>A
n.220-3461G>A
c.103441C>T (p.His34481Tyr)
c.77335C>T (p.His25779Tyr)
c.77194C>T (p.His25732Tyr)
c.103237C>T (p.His34413Tyr)
c.98635C>T (p.His32879Tyr)
c.98632C>T (p.His32878Tyr)
c.95674C>T (p.His31892Tyr)
c.77290C>T (p.His25764Tyr)
c.98785C>T (p.His32929Tyr)
c.98782C>T (p.His32928Tyr)
c.98215C>T (p.His32739Tyr)
c.95557C>T (p.His31853Tyr)
c.95476C>T (p.His31826Tyr)
c.77239C>T (p.His25747Tyr)
c.67093C>T (p.His22365Tyr)
 gnomAD v4
2g.178532271G>CCA349411947TTN,TTN-AS1c.96640C>G (p.His32214Asp)
c.77725C>G (p.His25909Asp)
c.77524C>G (p.His25842Asp)
c.77149C>G (p.His25717Asp)
c.104344C>G (p.His34782Asp)
c.99421C>G (p.His33141Asp)
n.446+8635G>C
n.220-3461G>C
c.103441C>G (p.His34481Asp)
c.77335C>G (p.His25779Asp)
c.77194C>G (p.His25732Asp)
c.103237C>G (p.His34413Asp)
c.98635C>G (p.His32879Asp)
c.98632C>G (p.His32878Asp)
c.95674C>G (p.His31892Asp)
c.77290C>G (p.His25764Asp)
c.98785C>G (p.His32929Asp)
c.98782C>G (p.His32928Asp)
c.98215C>G (p.His32739Asp)
c.95557C>G (p.His31853Asp)
c.95476C>G (p.His31826Asp)
c.77239C>G (p.His25747Asp)
c.67093C>G (p.His22365Asp)
2g.178532271G>TCA349411946TTN,TTN-AS1c.96640C>A (p.His32214Asn)
c.77725C>A (p.His25909Asn)
c.77524C>A (p.His25842Asn)
c.77149C>A (p.His25717Asn)
c.104344C>A (p.His34782Asn)
c.99421C>A (p.His33141Asn)
n.446+8635G>T
n.220-3461G>T
c.103441C>A (p.His34481Asn)
c.77335C>A (p.His25779Asn)
c.77194C>A (p.His25732Asn)
c.103237C>A (p.His34413Asn)
c.98635C>A (p.His32879Asn)
c.98632C>A (p.His32878Asn)
c.95674C>A (p.His31892Asn)
c.77290C>A (p.His25764Asn)
c.98785C>A (p.His32929Asn)
c.98782C>A (p.His32928Asn)
c.98215C>A (p.His32739Asn)
c.95557C>A (p.His31853Asn)
c.95476C>A (p.His31826Asn)
c.77239C>A (p.His25747Asn)
c.67093C>A (p.His22365Asn)
2g.178532272C>ACA349411948TTN,TTN-AS1c.96639G>T (p.Gln32213His)
c.77724G>T (p.Gln25908His)
c.77523G>T (p.Gln25841His)
c.77148G>T (p.Gln25716His)
c.104343G>T (p.Gln34781His)
c.99420G>T (p.Gln33140His)
n.446+8636C>A
n.220-3460C>A
c.103440G>T (p.Gln34480His)
c.77334G>T (p.Gln25778His)
c.77193G>T (p.Gln25731His)
c.103236G>T (p.Gln34412His)
c.98634G>T (p.Gln32878His)
c.98631G>T (p.Gln32877His)
c.95673G>T (p.Gln31891His)
c.77289G>T (p.Gln25763His)
c.98784G>T (p.Gln32928His)
c.98781G>T (p.Gln32927His)
c.98214G>T (p.Gln32738His)
c.95556G>T (p.Gln31852His)
c.95475G>T (p.Gln31825His)
c.77238G>T (p.Gln25746His)
c.67092G>T (p.Gln22364His)
 dbSNP
2g.178532272C=CA1310518157TTN,TTN-AS1c.96639G= (p.Gln32213=)
c.77724G= (p.Gln25908=)
c.77523G= (p.Gln25841=)
c.77148G= (p.Gln25716=)
c.104343G= (p.Gln34781=)
c.99420G= (p.Gln33140=)
n.446+8636C=
n.220-3460C=
c.103440G= (p.Gln34480=)
c.77334G= (p.Gln25778=)
c.77193G= (p.Gln25731=)
c.103236G= (p.Gln34412=)
c.98634G= (p.Gln32878=)
c.98631G= (p.Gln32877=)
c.95673G= (p.Gln31891=)
c.77289G= (p.Gln25763=)
c.98784G= (p.Gln32928=)
c.98781G= (p.Gln32927=)
c.98214G= (p.Gln32738=)
c.95556G= (p.Gln31852=)
c.95475G= (p.Gln31825=)
c.77238G= (p.Gln25746=)
c.67092G= (p.Gln22364=)
2g.178532272C>GCA349411949TTN,TTN-AS1c.96639G>C (p.Gln32213His)
c.77724G>C (p.Gln25908His)
c.77523G>C (p.Gln25841His)
c.77148G>C (p.Gln25716His)
c.104343G>C (p.Gln34781His)
c.99420G>C (p.Gln33140His)
n.446+8636C>G
n.220-3460C>G
c.103440G>C (p.Gln34480His)
c.77334G>C (p.Gln25778His)
c.77193G>C (p.Gln25731His)
c.103236G>C (p.Gln34412His)
c.98634G>C (p.Gln32878His)
c.98631G>C (p.Gln32877His)
c.95673G>C (p.Gln31891His)
c.77289G>C (p.Gln25763His)
c.98784G>C (p.Gln32928His)
c.98781G>C (p.Gln32927His)
c.98214G>C (p.Gln32738His)
c.95556G>C (p.Gln31852His)
c.95475G>C (p.Gln31825His)
c.77238G>C (p.Gln25746His)
c.67092G>C (p.Gln22364His)
 ClinVar
2g.178532272C>TCA430235960TTN,TTN-AS1c.96639G>A (p.Gln32213=)
c.77724G>A (p.Gln25908=)
c.77523G>A (p.Gln25841=)
c.77148G>A (p.Gln25716=)
c.104343G>A (p.Gln34781=)
c.99420G>A (p.Gln33140=)
n.446+8636C>T
n.220-3460C>T
c.103440G>A (p.Gln34480=)
c.77334G>A (p.Gln25778=)
c.77193G>A (p.Gln25731=)
c.103236G>A (p.Gln34412=)
c.98634G>A (p.Gln32878=)
c.98631G>A (p.Gln32877=)
c.95673G>A (p.Gln31891=)
c.77289G>A (p.Gln25763=)
c.98784G>A (p.Gln32928=)
c.98781G>A (p.Gln32927=)
c.98214G>A (p.Gln32738=)
c.95556G>A (p.Gln31852=)
c.95475G>A (p.Gln31825=)
c.77238G>A (p.Gln25746=)
c.67092G>A (p.Gln22364=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178532273T>ACA349411950TTN,TTN-AS1c.96638A>T (p.Gln32213Leu)
c.77723A>T (p.Gln25908Leu)
c.77522A>T (p.Gln25841Leu)
c.77147A>T (p.Gln25716Leu)
c.104342A>T (p.Gln34781Leu)
c.99419A>T (p.Gln33140Leu)
n.446+8637T>A
n.220-3459T>A
c.103439A>T (p.Gln34480Leu)
c.77333A>T (p.Gln25778Leu)
c.77192A>T (p.Gln25731Leu)
c.103235A>T (p.Gln34412Leu)
c.98633A>T (p.Gln32878Leu)
c.98630A>T (p.Gln32877Leu)
c.95672A>T (p.Gln31891Leu)
c.77288A>T (p.Gln25763Leu)
c.98783A>T (p.Gln32928Leu)
c.98780A>T (p.Gln32927Leu)
c.98213A>T (p.Gln32738Leu)
c.95555A>T (p.Gln31852Leu)
c.95474A>T (p.Gln31825Leu)
c.77237A>T (p.Gln25746Leu)
c.67091A>T (p.Gln22364Leu)
 dbSNP
2g.178532273T>CCA349411951TTN,TTN-AS1c.96638A>G (p.Gln32213Arg)
c.77723A>G (p.Gln25908Arg)
c.77522A>G (p.Gln25841Arg)
c.77147A>G (p.Gln25716Arg)
c.104342A>G (p.Gln34781Arg)
c.99419A>G (p.Gln33140Arg)
n.446+8637T>C
n.220-3459T>C
c.103439A>G (p.Gln34480Arg)
c.77333A>G (p.Gln25778Arg)
c.77192A>G (p.Gln25731Arg)
c.103235A>G (p.Gln34412Arg)
c.98633A>G (p.Gln32878Arg)
c.98630A>G (p.Gln32877Arg)
c.95672A>G (p.Gln31891Arg)
c.77288A>G (p.Gln25763Arg)
c.98783A>G (p.Gln32928Arg)
c.98780A>G (p.Gln32927Arg)
c.98213A>G (p.Gln32738Arg)
c.95555A>G (p.Gln31852Arg)
c.95474A>G (p.Gln31825Arg)
c.77237A>G (p.Gln25746Arg)
c.67091A>G (p.Gln22364Arg)
 dbSNP
2g.178532273T>GCA349411952TTN,TTN-AS1c.96638A>C (p.Gln32213Pro)
c.77723A>C (p.Gln25908Pro)
c.77522A>C (p.Gln25841Pro)
c.77147A>C (p.Gln25716Pro)
c.104342A>C (p.Gln34781Pro)
c.99419A>C (p.Gln33140Pro)
n.446+8637T>G
n.220-3459T>G
c.103439A>C (p.Gln34480Pro)
c.77333A>C (p.Gln25778Pro)
c.77192A>C (p.Gln25731Pro)
c.103235A>C (p.Gln34412Pro)
c.98633A>C (p.Gln32878Pro)
c.98630A>C (p.Gln32877Pro)
c.95672A>C (p.Gln31891Pro)
c.77288A>C (p.Gln25763Pro)
c.98783A>C (p.Gln32928Pro)
c.98780A>C (p.Gln32927Pro)
c.98213A>C (p.Gln32738Pro)
c.95555A>C (p.Gln31852Pro)
c.95474A>C (p.Gln31825Pro)
c.77237A>C (p.Gln25746Pro)
c.67091A>C (p.Gln22364Pro)
2g.178532273T=CA1310518158TTN,TTN-AS1c.96638A= (p.Gln32213=)
c.77723A= (p.Gln25908=)
c.77522A= (p.Gln25841=)
c.77147A= (p.Gln25716=)
c.104342A= (p.Gln34781=)
c.99419A= (p.Gln33140=)
n.446+8637T=
n.220-3459T=
c.103439A= (p.Gln34480=)
c.77333A= (p.Gln25778=)
c.77192A= (p.Gln25731=)
c.103235A= (p.Gln34412=)
c.98633A= (p.Gln32878=)
c.98630A= (p.Gln32877=)
c.95672A= (p.Gln31891=)
c.77288A= (p.Gln25763=)
c.98783A= (p.Gln32928=)
c.98780A= (p.Gln32927=)
c.98213A= (p.Gln32738=)
c.95555A= (p.Gln31852=)
c.95474A= (p.Gln31825=)
c.77237A= (p.Gln25746=)
c.67091A= (p.Gln22364=)
2g.178532274G>ACA349411953TTN,TTN-AS1c.96637C>T (p.Gln32213Ter)
c.77722C>T (p.Gln25908Ter)
c.77521C>T (p.Gln25841Ter)
c.77146C>T (p.Gln25716Ter)
c.104341C>T (p.Gln34781Ter)
c.99418C>T (p.Gln33140Ter)
n.446+8638G>A
n.220-3458G>A
c.103438C>T (p.Gln34480Ter)
c.77332C>T (p.Gln25778Ter)
c.77191C>T (p.Gln25731Ter)
c.103234C>T (p.Gln34412Ter)
c.98632C>T (p.Gln32878Ter)
c.98629C>T (p.Gln32877Ter)
c.95671C>T (p.Gln31891Ter)
c.77287C>T (p.Gln25763Ter)
c.98782C>T (p.Gln32928Ter)
c.98779C>T (p.Gln32927Ter)
c.98212C>T (p.Gln32738Ter)
c.95554C>T (p.Gln31852Ter)
c.95473C>T (p.Gln31825Ter)
c.77236C>T (p.Gln25746Ter)
c.67090C>T (p.Gln22364Ter)
2g.178532274G>CCA349411954TTN,TTN-AS1c.96637C>G (p.Gln32213Glu)
c.77722C>G (p.Gln25908Glu)
c.77521C>G (p.Gln25841Glu)
c.77146C>G (p.Gln25716Glu)
c.104341C>G (p.Gln34781Glu)
c.99418C>G (p.Gln33140Glu)
n.446+8638G>C
n.220-3458G>C
c.103438C>G (p.Gln34480Glu)
c.77332C>G (p.Gln25778Glu)
c.77191C>G (p.Gln25731Glu)
c.103234C>G (p.Gln34412Glu)
c.98632C>G (p.Gln32878Glu)
c.98629C>G (p.Gln32877Glu)
c.95671C>G (p.Gln31891Glu)
c.77287C>G (p.Gln25763Glu)
c.98782C>G (p.Gln32928Glu)
c.98779C>G (p.Gln32927Glu)
c.98212C>G (p.Gln32738Glu)
c.95554C>G (p.Gln31852Glu)
c.95473C>G (p.Gln31825Glu)
c.77236C>G (p.Gln25746Glu)
c.67090C>G (p.Gln22364Glu)
2g.178532274G>TCA349411955TTN,TTN-AS1c.96637C>A (p.Gln32213Lys)
c.77722C>A (p.Gln25908Lys)
c.77521C>A (p.Gln25841Lys)
c.77146C>A (p.Gln25716Lys)
c.104341C>A (p.Gln34781Lys)
c.99418C>A (p.Gln33140Lys)
n.446+8638G>T
n.220-3458G>T
c.103438C>A (p.Gln34480Lys)
c.77332C>A (p.Gln25778Lys)
c.77191C>A (p.Gln25731Lys)
c.103234C>A (p.Gln34412Lys)
c.98632C>A (p.Gln32878Lys)
c.98629C>A (p.Gln32877Lys)
c.95671C>A (p.Gln31891Lys)
c.77287C>A (p.Gln25763Lys)
c.98782C>A (p.Gln32928Lys)
c.98779C>A (p.Gln32927Lys)
c.98212C>A (p.Gln32738Lys)
c.95554C>A (p.Gln31852Lys)
c.95473C>A (p.Gln31825Lys)
c.77236C>A (p.Gln25746Lys)
c.67090C>A (p.Gln22364Lys)
2g.178532275G>ACA1985438TTN,TTN-AS1c.96636C>T (p.Thr32212=)
c.77721C>T (p.Thr25907=)
c.77520C>T (p.Thr25840=)
c.77145C>T (p.Thr25715=)
c.104340C>T (p.Thr34780=)
c.99417C>T (p.Thr33139=)
n.446+8639G>A
n.220-3457G>A
c.103437C>T (p.Thr34479=)
c.77331C>T (p.Thr25777=)
c.77190C>T (p.Thr25730=)
c.103233C>T (p.Thr34411=)
c.98631C>T (p.Thr32877=)
c.98628C>T (p.Thr32876=)
c.95670C>T (p.Thr31890=)
c.77286C>T (p.Thr25762=)
c.98781C>T (p.Thr32927=)
c.98778C>T (p.Thr32926=)
c.98211C>T (p.Thr32737=)
c.95553C>T (p.Thr31851=)
c.95472C>T (p.Thr31824=)
c.77235C>T (p.Thr25745=)
c.67089C>T (p.Thr22363=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178532275G>CCA430235961TTN,TTN-AS1c.96636C>G (p.Thr32212=)
c.77721C>G (p.Thr25907=)
c.77520C>G (p.Thr25840=)
c.77145C>G (p.Thr25715=)
c.104340C>G (p.Thr34780=)
c.99417C>G (p.Thr33139=)
n.446+8639G>C
n.220-3457G>C
c.103437C>G (p.Thr34479=)
c.77331C>G (p.Thr25777=)
c.77190C>G (p.Thr25730=)
c.103233C>G (p.Thr34411=)
c.98631C>G (p.Thr32877=)
c.98628C>G (p.Thr32876=)
c.95670C>G (p.Thr31890=)
c.77286C>G (p.Thr25762=)
c.98781C>G (p.Thr32927=)
c.98778C>G (p.Thr32926=)
c.98211C>G (p.Thr32737=)
c.95553C>G (p.Thr31851=)
c.95472C>G (p.Thr31824=)
c.77235C>G (p.Thr25745=)
c.67089C>G (p.Thr22363=)
2g.178532275G=CA1310518159TTN,TTN-AS1c.96636C= (p.Thr32212=)
c.77721C= (p.Thr25907=)
c.77520C= (p.Thr25840=)
c.77145C= (p.Thr25715=)
c.104340C= (p.Thr34780=)
c.99417C= (p.Thr33139=)
n.446+8639G=
n.220-3457G=
c.103437C= (p.Thr34479=)
c.77331C= (p.Thr25777=)
c.77190C= (p.Thr25730=)
c.103233C= (p.Thr34411=)
c.98631C= (p.Thr32877=)
c.98628C= (p.Thr32876=)
c.95670C= (p.Thr31890=)
c.77286C= (p.Thr25762=)
c.98781C= (p.Thr32927=)
c.98778C= (p.Thr32926=)
c.98211C= (p.Thr32737=)
c.95553C= (p.Thr31851=)
c.95472C= (p.Thr31824=)
c.77235C= (p.Thr25745=)
c.67089C= (p.Thr22363=)
2g.178532275G>TCA430235962TTN,TTN-AS1c.96636C>A (p.Thr32212=)
c.77721C>A (p.Thr25907=)
c.77520C>A (p.Thr25840=)
c.77145C>A (p.Thr25715=)
c.104340C>A (p.Thr34780=)
c.99417C>A (p.Thr33139=)
n.446+8639G>T
n.220-3457G>T
c.103437C>A (p.Thr34479=)
c.77331C>A (p.Thr25777=)
c.77190C>A (p.Thr25730=)
c.103233C>A (p.Thr34411=)
c.98631C>A (p.Thr32877=)
c.98628C>A (p.Thr32876=)
c.95670C>A (p.Thr31890=)
c.77286C>A (p.Thr25762=)
c.98781C>A (p.Thr32927=)
c.98778C>A (p.Thr32926=)
c.98211C>A (p.Thr32737=)
c.95553C>A (p.Thr31851=)
c.95472C>A (p.Thr31824=)
c.77235C>A (p.Thr25745=)
c.67089C>A (p.Thr22363=)
2g.178532276G>ACA349411956TTN,TTN-AS1c.96635C>T (p.Thr32212Ile)
c.77720C>T (p.Thr25907Ile)
c.77519C>T (p.Thr25840Ile)
c.77144C>T (p.Thr25715Ile)
c.104339C>T (p.Thr34780Ile)
c.99416C>T (p.Thr33139Ile)
n.446+8640G>A
n.220-3456G>A
c.103436C>T (p.Thr34479Ile)
c.77330C>T (p.Thr25777Ile)
c.77189C>T (p.Thr25730Ile)
c.103232C>T (p.Thr34411Ile)
c.98630C>T (p.Thr32877Ile)
c.98627C>T (p.Thr32876Ile)
c.95669C>T (p.Thr31890Ile)
c.77285C>T (p.Thr25762Ile)
c.98780C>T (p.Thr32927Ile)
c.98777C>T (p.Thr32926Ile)
c.98210C>T (p.Thr32737Ile)
c.95552C>T (p.Thr31851Ile)
c.95471C>T (p.Thr31824Ile)
c.77234C>T (p.Thr25745Ile)
c.67088C>T (p.Thr22363Ile)
2g.178532276G>CCA349411957TTN,TTN-AS1c.96635C>G (p.Thr32212Ser)
c.77720C>G (p.Thr25907Ser)
c.77519C>G (p.Thr25840Ser)
c.77144C>G (p.Thr25715Ser)
c.104339C>G (p.Thr34780Ser)
c.99416C>G (p.Thr33139Ser)
n.446+8640G>C
n.220-3456G>C
c.103436C>G (p.Thr34479Ser)
c.77330C>G (p.Thr25777Ser)
c.77189C>G (p.Thr25730Ser)
c.103232C>G (p.Thr34411Ser)
c.98630C>G (p.Thr32877Ser)
c.98627C>G (p.Thr32876Ser)
c.95669C>G (p.Thr31890Ser)
c.77285C>G (p.Thr25762Ser)
c.98780C>G (p.Thr32927Ser)
c.98777C>G (p.Thr32926Ser)
c.98210C>G (p.Thr32737Ser)
c.95552C>G (p.Thr31851Ser)
c.95471C>G (p.Thr31824Ser)
c.77234C>G (p.Thr25745Ser)
c.67088C>G (p.Thr22363Ser)
2g.178532276G>TCA349411958TTN,TTN-AS1c.96635C>A (p.Thr32212Asn)
c.77720C>A (p.Thr25907Asn)
c.77519C>A (p.Thr25840Asn)
c.77144C>A (p.Thr25715Asn)
c.104339C>A (p.Thr34780Asn)
c.99416C>A (p.Thr33139Asn)
n.446+8640G>T
n.220-3456G>T
c.103436C>A (p.Thr34479Asn)
c.77330C>A (p.Thr25777Asn)
c.77189C>A (p.Thr25730Asn)
c.103232C>A (p.Thr34411Asn)
c.98630C>A (p.Thr32877Asn)
c.98627C>A (p.Thr32876Asn)
c.95669C>A (p.Thr31890Asn)
c.77285C>A (p.Thr25762Asn)
c.98780C>A (p.Thr32927Asn)
c.98777C>A (p.Thr32926Asn)
c.98210C>A (p.Thr32737Asn)
c.95552C>A (p.Thr31851Asn)
c.95471C>A (p.Thr31824Asn)
c.77234C>A (p.Thr25745Asn)
c.67088C>A (p.Thr22363Asn)
2g.178532277T>ACA349411959TTN,TTN-AS1c.96634A>T (p.Thr32212Ser)
c.77719A>T (p.Thr25907Ser)
c.77518A>T (p.Thr25840Ser)
c.77143A>T (p.Thr25715Ser)
c.104338A>T (p.Thr34780Ser)
c.99415A>T (p.Thr33139Ser)
n.446+8641T>A
n.220-3455T>A
c.103435A>T (p.Thr34479Ser)
c.77329A>T (p.Thr25777Ser)
c.77188A>T (p.Thr25730Ser)
c.103231A>T (p.Thr34411Ser)
c.98629A>T (p.Thr32877Ser)
c.98626A>T (p.Thr32876Ser)
c.95668A>T (p.Thr31890Ser)
c.77284A>T (p.Thr25762Ser)
c.98779A>T (p.Thr32927Ser)
c.98776A>T (p.Thr32926Ser)
c.98209A>T (p.Thr32737Ser)
c.95551A>T (p.Thr31851Ser)
c.95470A>T (p.Thr31824Ser)
c.77233A>T (p.Thr25745Ser)
c.67087A>T (p.Thr22363Ser)
2g.178532277T>CCA349411961TTN,TTN-AS1c.96634A>G (p.Thr32212Ala)
c.77719A>G (p.Thr25907Ala)
c.77518A>G (p.Thr25840Ala)
c.77143A>G (p.Thr25715Ala)
c.104338A>G (p.Thr34780Ala)
c.99415A>G (p.Thr33139Ala)
n.446+8641T>C
n.220-3455T>C
c.103435A>G (p.Thr34479Ala)
c.77329A>G (p.Thr25777Ala)
c.77188A>G (p.Thr25730Ala)
c.103231A>G (p.Thr34411Ala)
c.98629A>G (p.Thr32877Ala)
c.98626A>G (p.Thr32876Ala)
c.95668A>G (p.Thr31890Ala)
c.77284A>G (p.Thr25762Ala)
c.98779A>G (p.Thr32927Ala)
c.98776A>G (p.Thr32926Ala)
c.98209A>G (p.Thr32737Ala)
c.95551A>G (p.Thr31851Ala)
c.95470A>G (p.Thr31824Ala)
c.77233A>G (p.Thr25745Ala)
c.67087A>G (p.Thr22363Ala)
2g.178532277T>GCA349411960TTN,TTN-AS1c.96634A>C (p.Thr32212Pro)
c.77719A>C (p.Thr25907Pro)
c.77518A>C (p.Thr25840Pro)
c.77143A>C (p.Thr25715Pro)
c.104338A>C (p.Thr34780Pro)
c.99415A>C (p.Thr33139Pro)
n.446+8641T>G
n.220-3455T>G
c.103435A>C (p.Thr34479Pro)
c.77329A>C (p.Thr25777Pro)
c.77188A>C (p.Thr25730Pro)
c.103231A>C (p.Thr34411Pro)
c.98629A>C (p.Thr32877Pro)
c.98626A>C (p.Thr32876Pro)
c.95668A>C (p.Thr31890Pro)
c.77284A>C (p.Thr25762Pro)
c.98779A>C (p.Thr32927Pro)
c.98776A>C (p.Thr32926Pro)
c.98209A>C (p.Thr32737Pro)
c.95551A>C (p.Thr31851Pro)
c.95470A>C (p.Thr31824Pro)
c.77233A>C (p.Thr25745Pro)
c.67087A>C (p.Thr22363Pro)

Number of alleles fetched