Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178527021T>ACA430091454TTN,TTN-AS1c.100263A>T (p.Arg33421=)
c.81348A>T (p.Arg27116=)
c.81147A>T (p.Arg27049=)
c.80772A>T (p.Arg26924=)
c.107967A>T (p.Arg35989=)
c.103044A>T (p.Arg34348=)
n.446+3385T>A
n.219+3385T>A
c.107064A>T (p.Arg35688=)
c.80958A>T (p.Arg26986=)
c.80817A>T (p.Arg26939=)
c.106860A>T (p.Arg35620=)
c.102258A>T (p.Arg34086=)
c.102255A>T (p.Arg34085=)
c.99297A>T (p.Arg33099=)
c.80913A>T (p.Arg26971=)
c.102408A>T (p.Arg34136=)
c.102405A>T (p.Arg34135=)
c.101838A>T (p.Arg33946=)
c.99180A>T (p.Arg33060=)
c.99099A>T (p.Arg33033=)
c.80862A>T (p.Arg26954=)
c.70716A>T (p.Arg23572=)
 dbSNP gnomAD v4
2g.178527021T>CCA430091455TTN,TTN-AS1c.100263A>G (p.Arg33421=)
c.81348A>G (p.Arg27116=)
c.81147A>G (p.Arg27049=)
c.80772A>G (p.Arg26924=)
c.107967A>G (p.Arg35989=)
c.103044A>G (p.Arg34348=)
n.446+3385T>C
n.219+3385T>C
c.107064A>G (p.Arg35688=)
c.80958A>G (p.Arg26986=)
c.80817A>G (p.Arg26939=)
c.106860A>G (p.Arg35620=)
c.102258A>G (p.Arg34086=)
c.102255A>G (p.Arg34085=)
c.99297A>G (p.Arg33099=)
c.80913A>G (p.Arg26971=)
c.102408A>G (p.Arg34136=)
c.102405A>G (p.Arg34135=)
c.101838A>G (p.Arg33946=)
c.99180A>G (p.Arg33060=)
c.99099A>G (p.Arg33033=)
c.80862A>G (p.Arg26954=)
c.70716A>G (p.Arg23572=)
2g.178527021T>GCA430091456TTN,TTN-AS1c.100263A>C (p.Arg33421=)
c.81348A>C (p.Arg27116=)
c.81147A>C (p.Arg27049=)
c.80772A>C (p.Arg26924=)
c.107967A>C (p.Arg35989=)
c.103044A>C (p.Arg34348=)
n.446+3385T>G
n.219+3385T>G
c.107064A>C (p.Arg35688=)
c.80958A>C (p.Arg26986=)
c.80817A>C (p.Arg26939=)
c.106860A>C (p.Arg35620=)
c.102258A>C (p.Arg34086=)
c.102255A>C (p.Arg34085=)
c.99297A>C (p.Arg33099=)
c.80913A>C (p.Arg26971=)
c.102408A>C (p.Arg34136=)
c.102405A>C (p.Arg34135=)
c.101838A>C (p.Arg33946=)
c.99180A>C (p.Arg33060=)
c.99099A>C (p.Arg33033=)
c.80862A>C (p.Arg26954=)
c.70716A>C (p.Arg23572=)
2g.178527021T=CA1310514271TTN,TTN-AS1c.100263A= (p.Arg33421=)
c.81348A= (p.Arg27116=)
c.81147A= (p.Arg27049=)
c.80772A= (p.Arg26924=)
c.107967A= (p.Arg35989=)
c.103044A= (p.Arg34348=)
n.446+3385T=
n.219+3385T=
c.107064A= (p.Arg35688=)
c.80958A= (p.Arg26986=)
c.80817A= (p.Arg26939=)
c.106860A= (p.Arg35620=)
c.102258A= (p.Arg34086=)
c.102255A= (p.Arg34085=)
c.99297A= (p.Arg33099=)
c.80913A= (p.Arg26971=)
c.102408A= (p.Arg34136=)
c.102405A= (p.Arg34135=)
c.101838A= (p.Arg33946=)
c.99180A= (p.Arg33060=)
c.99099A= (p.Arg33033=)
c.80862A= (p.Arg26954=)
c.70716A= (p.Arg23572=)
2g.178527022C>ACA349398155TTN,TTN-AS1c.100262G>T (p.Arg33421Leu)
c.81347G>T (p.Arg27116Leu)
c.81146G>T (p.Arg27049Leu)
c.80771G>T (p.Arg26924Leu)
c.107966G>T (p.Arg35989Leu)
c.103043G>T (p.Arg34348Leu)
n.446+3386C>A
n.219+3386C>A
c.107063G>T (p.Arg35688Leu)
c.80957G>T (p.Arg26986Leu)
c.80816G>T (p.Arg26939Leu)
c.106859G>T (p.Arg35620Leu)
c.102257G>T (p.Arg34086Leu)
c.102254G>T (p.Arg34085Leu)
c.99296G>T (p.Arg33099Leu)
c.80912G>T (p.Arg26971Leu)
c.102407G>T (p.Arg34136Leu)
c.102404G>T (p.Arg34135Leu)
c.101837G>T (p.Arg33946Leu)
c.99179G>T (p.Arg33060Leu)
c.99098G>T (p.Arg33033Leu)
c.80861G>T (p.Arg26954Leu)
c.70715G>T (p.Arg23572Leu)
 gnomAD v4
2g.178527022C=CA1310514272TTN,TTN-AS1c.100262G= (p.Arg33421=)
c.81347G= (p.Arg27116=)
c.81146G= (p.Arg27049=)
c.80771G= (p.Arg26924=)
c.107966G= (p.Arg35989=)
c.103043G= (p.Arg34348=)
n.446+3386C=
n.219+3386C=
c.107063G= (p.Arg35688=)
c.80957G= (p.Arg26986=)
c.80816G= (p.Arg26939=)
c.106859G= (p.Arg35620=)
c.102257G= (p.Arg34086=)
c.102254G= (p.Arg34085=)
c.99296G= (p.Arg33099=)
c.80912G= (p.Arg26971=)
c.102407G= (p.Arg34136=)
c.102404G= (p.Arg34135=)
c.101837G= (p.Arg33946=)
c.99179G= (p.Arg33060=)
c.99098G= (p.Arg33033=)
c.80861G= (p.Arg26954=)
c.70715G= (p.Arg23572=)
2g.178527022C>GCA349398154TTN,TTN-AS1c.100262G>C (p.Arg33421Pro)
c.81347G>C (p.Arg27116Pro)
c.81146G>C (p.Arg27049Pro)
c.80771G>C (p.Arg26924Pro)
c.107966G>C (p.Arg35989Pro)
c.103043G>C (p.Arg34348Pro)
n.446+3386C>G
n.219+3386C>G
c.107063G>C (p.Arg35688Pro)
c.80957G>C (p.Arg26986Pro)
c.80816G>C (p.Arg26939Pro)
c.106859G>C (p.Arg35620Pro)
c.102257G>C (p.Arg34086Pro)
c.102254G>C (p.Arg34085Pro)
c.99296G>C (p.Arg33099Pro)
c.80912G>C (p.Arg26971Pro)
c.102407G>C (p.Arg34136Pro)
c.102404G>C (p.Arg34135Pro)
c.101837G>C (p.Arg33946Pro)
c.99179G>C (p.Arg33060Pro)
c.99098G>C (p.Arg33033Pro)
c.80861G>C (p.Arg26954Pro)
c.70715G>C (p.Arg23572Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.178527022C>TCA1984853TTN,TTN-AS1c.100262G>A (p.Arg33421Gln)
c.81347G>A (p.Arg27116Gln)
c.81146G>A (p.Arg27049Gln)
c.80771G>A (p.Arg26924Gln)
c.107966G>A (p.Arg35989Gln)
c.103043G>A (p.Arg34348Gln)
n.446+3386C>T
n.219+3386C>T
c.107063G>A (p.Arg35688Gln)
c.80957G>A (p.Arg26986Gln)
c.80816G>A (p.Arg26939Gln)
c.106859G>A (p.Arg35620Gln)
c.102257G>A (p.Arg34086Gln)
c.102254G>A (p.Arg34085Gln)
c.99296G>A (p.Arg33099Gln)
c.80912G>A (p.Arg26971Gln)
c.102407G>A (p.Arg34136Gln)
c.102404G>A (p.Arg34135Gln)
c.101837G>A (p.Arg33946Gln)
c.99179G>A (p.Arg33060Gln)
c.99098G>A (p.Arg33033Gln)
c.80861G>A (p.Arg26954Gln)
c.70715G>A (p.Arg23572Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178527023G>ACA309523TTN,TTN-AS1c.100261C>T (p.Arg33421Ter)
c.81346C>T (p.Arg27116Ter)
c.81145C>T (p.Arg27049Ter)
c.80770C>T (p.Arg26924Ter)
c.107965C>T (p.Arg35989Ter)
c.103042C>T (p.Arg34348Ter)
n.446+3387G>A
n.219+3387G>A
c.107062C>T (p.Arg35688Ter)
c.80956C>T (p.Arg26986Ter)
c.80815C>T (p.Arg26939Ter)
c.106858C>T (p.Arg35620Ter)
c.102256C>T (p.Arg34086Ter)
c.102253C>T (p.Arg34085Ter)
c.99295C>T (p.Arg33099Ter)
c.80911C>T (p.Arg26971Ter)
c.102406C>T (p.Arg34136Ter)
c.102403C>T (p.Arg34135Ter)
c.101836C>T (p.Arg33946Ter)
c.99178C>T (p.Arg33060Ter)
c.99097C>T (p.Arg33033Ter)
c.80860C>T (p.Arg26954Ter)
c.70714C>T (p.Arg23572Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178527023G>CCA349398156TTN,TTN-AS1c.100261C>G (p.Arg33421Gly)
c.81346C>G (p.Arg27116Gly)
c.81145C>G (p.Arg27049Gly)
c.80770C>G (p.Arg26924Gly)
c.107965C>G (p.Arg35989Gly)
c.103042C>G (p.Arg34348Gly)
n.446+3387G>C
n.219+3387G>C
c.107062C>G (p.Arg35688Gly)
c.80956C>G (p.Arg26986Gly)
c.80815C>G (p.Arg26939Gly)
c.106858C>G (p.Arg35620Gly)
c.102256C>G (p.Arg34086Gly)
c.102253C>G (p.Arg34085Gly)
c.99295C>G (p.Arg33099Gly)
c.80911C>G (p.Arg26971Gly)
c.102406C>G (p.Arg34136Gly)
c.102403C>G (p.Arg34135Gly)
c.101836C>G (p.Arg33946Gly)
c.99178C>G (p.Arg33060Gly)
c.99097C>G (p.Arg33033Gly)
c.80860C>G (p.Arg26954Gly)
c.70714C>G (p.Arg23572Gly)
2g.178527023G=CA1310514273TTN,TTN-AS1c.100261C= (p.Arg33421=)
c.81346C= (p.Arg27116=)
c.81145C= (p.Arg27049=)
c.80770C= (p.Arg26924=)
c.107965C= (p.Arg35989=)
c.103042C= (p.Arg34348=)
n.446+3387G=
n.219+3387G=
c.107062C= (p.Arg35688=)
c.80956C= (p.Arg26986=)
c.80815C= (p.Arg26939=)
c.106858C= (p.Arg35620=)
c.102256C= (p.Arg34086=)
c.102253C= (p.Arg34085=)
c.99295C= (p.Arg33099=)
c.80911C= (p.Arg26971=)
c.102406C= (p.Arg34136=)
c.102403C= (p.Arg34135=)
c.101836C= (p.Arg33946=)
c.99178C= (p.Arg33060=)
c.99097C= (p.Arg33033=)
c.80860C= (p.Arg26954=)
c.70714C= (p.Arg23572=)
2g.178527023G>TCA430091457TTN,TTN-AS1c.100261C>A (p.Arg33421=)
c.81346C>A (p.Arg27116=)
c.81145C>A (p.Arg27049=)
c.80770C>A (p.Arg26924=)
c.107965C>A (p.Arg35989=)
c.103042C>A (p.Arg34348=)
n.446+3387G>T
n.219+3387G>T
c.107062C>A (p.Arg35688=)
c.80956C>A (p.Arg26986=)
c.80815C>A (p.Arg26939=)
c.106858C>A (p.Arg35620=)
c.102256C>A (p.Arg34086=)
c.102253C>A (p.Arg34085=)
c.99295C>A (p.Arg33099=)
c.80911C>A (p.Arg26971=)
c.102406C>A (p.Arg34136=)
c.102403C>A (p.Arg34135=)
c.101836C>A (p.Arg33946=)
c.99178C>A (p.Arg33060=)
c.99097C>A (p.Arg33033=)
c.80860C>A (p.Arg26954=)
c.70714C>A (p.Arg23572=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178527024A>CCA349398157TTN,TTN-AS1c.100260T>G (p.Ile33420Met)
c.81345T>G (p.Ile27115Met)
c.81144T>G (p.Ile27048Met)
c.80769T>G (p.Ile26923Met)
c.107964T>G (p.Ile35988Met)
c.103041T>G (p.Ile34347Met)
n.446+3388A>C
n.219+3388A>C
c.107061T>G (p.Ile35687Met)
c.80955T>G (p.Ile26985Met)
c.80814T>G (p.Ile26938Met)
c.106857T>G (p.Ile35619Met)
c.102255T>G (p.Ile34085Met)
c.102252T>G (p.Ile34084Met)
c.99294T>G (p.Ile33098Met)
c.80910T>G (p.Ile26970Met)
c.102405T>G (p.Ile34135Met)
c.102402T>G (p.Ile34134Met)
c.101835T>G (p.Ile33945Met)
c.99177T>G (p.Ile33059Met)
c.99096T>G (p.Ile33032Met)
c.80859T>G (p.Ile26953Met)
c.70713T>G (p.Ile23571Met)
2g.178527024A>GCA430091458TTN,TTN-AS1c.100260T>C (p.Ile33420=)
c.81345T>C (p.Ile27115=)
c.81144T>C (p.Ile27048=)
c.80769T>C (p.Ile26923=)
c.107964T>C (p.Ile35988=)
c.103041T>C (p.Ile34347=)
n.446+3388A>G
n.219+3388A>G
c.107061T>C (p.Ile35687=)
c.80955T>C (p.Ile26985=)
c.80814T>C (p.Ile26938=)
c.106857T>C (p.Ile35619=)
c.102255T>C (p.Ile34085=)
c.102252T>C (p.Ile34084=)
c.99294T>C (p.Ile33098=)
c.80910T>C (p.Ile26970=)
c.102405T>C (p.Ile34135=)
c.102402T>C (p.Ile34134=)
c.101835T>C (p.Ile33945=)
c.99177T>C (p.Ile33059=)
c.99096T>C (p.Ile33032=)
c.80859T>C (p.Ile26953=)
c.70713T>C (p.Ile23571=)
2g.178527024A>TCA430091459TTN,TTN-AS1c.100260T>A (p.Ile33420=)
c.81345T>A (p.Ile27115=)
c.81144T>A (p.Ile27048=)
c.80769T>A (p.Ile26923=)
c.107964T>A (p.Ile35988=)
c.103041T>A (p.Ile34347=)
n.446+3388A>T
n.219+3388A>T
c.107061T>A (p.Ile35687=)
c.80955T>A (p.Ile26985=)
c.80814T>A (p.Ile26938=)
c.106857T>A (p.Ile35619=)
c.102255T>A (p.Ile34085=)
c.102252T>A (p.Ile34084=)
c.99294T>A (p.Ile33098=)
c.80910T>A (p.Ile26970=)
c.102405T>A (p.Ile34135=)
c.102402T>A (p.Ile34134=)
c.101835T>A (p.Ile33945=)
c.99177T>A (p.Ile33059=)
c.99096T>A (p.Ile33032=)
c.80859T>A (p.Ile26953=)
c.70713T>A (p.Ile23571=)
2g.178527025A>CCA349398158TTN,TTN-AS1c.100259T>G (p.Ile33420Ser)
c.81344T>G (p.Ile27115Ser)
c.81143T>G (p.Ile27048Ser)
c.80768T>G (p.Ile26923Ser)
c.107963T>G (p.Ile35988Ser)
c.103040T>G (p.Ile34347Ser)
n.446+3389A>C
n.219+3389A>C
c.107060T>G (p.Ile35687Ser)
c.80954T>G (p.Ile26985Ser)
c.80813T>G (p.Ile26938Ser)
c.106856T>G (p.Ile35619Ser)
c.102254T>G (p.Ile34085Ser)
c.102251T>G (p.Ile34084Ser)
c.99293T>G (p.Ile33098Ser)
c.80909T>G (p.Ile26970Ser)
c.102404T>G (p.Ile34135Ser)
c.102401T>G (p.Ile34134Ser)
c.101834T>G (p.Ile33945Ser)
c.99176T>G (p.Ile33059Ser)
c.99095T>G (p.Ile33032Ser)
c.80858T>G (p.Ile26953Ser)
c.70712T>G (p.Ile23571Ser)
2g.178527025A>GCA349398159TTN,TTN-AS1c.100259T>C (p.Ile33420Thr)
c.81344T>C (p.Ile27115Thr)
c.81143T>C (p.Ile27048Thr)
c.80768T>C (p.Ile26923Thr)
c.107963T>C (p.Ile35988Thr)
c.103040T>C (p.Ile34347Thr)
n.446+3389A>G
n.219+3389A>G
c.107060T>C (p.Ile35687Thr)
c.80954T>C (p.Ile26985Thr)
c.80813T>C (p.Ile26938Thr)
c.106856T>C (p.Ile35619Thr)
c.102254T>C (p.Ile34085Thr)
c.102251T>C (p.Ile34084Thr)
c.99293T>C (p.Ile33098Thr)
c.80909T>C (p.Ile26970Thr)
c.102404T>C (p.Ile34135Thr)
c.102401T>C (p.Ile34134Thr)
c.101834T>C (p.Ile33945Thr)
c.99176T>C (p.Ile33059Thr)
c.99095T>C (p.Ile33032Thr)
c.80858T>C (p.Ile26953Thr)
c.70712T>C (p.Ile23571Thr)
2g.178527025A>TCA349398160TTN,TTN-AS1c.100259T>A (p.Ile33420Asn)
c.81344T>A (p.Ile27115Asn)
c.81143T>A (p.Ile27048Asn)
c.80768T>A (p.Ile26923Asn)
c.107963T>A (p.Ile35988Asn)
c.103040T>A (p.Ile34347Asn)
n.446+3389A>T
n.219+3389A>T
c.107060T>A (p.Ile35687Asn)
c.80954T>A (p.Ile26985Asn)
c.80813T>A (p.Ile26938Asn)
c.106856T>A (p.Ile35619Asn)
c.102254T>A (p.Ile34085Asn)
c.102251T>A (p.Ile34084Asn)
c.99293T>A (p.Ile33098Asn)
c.80909T>A (p.Ile26970Asn)
c.102404T>A (p.Ile34135Asn)
c.102401T>A (p.Ile34134Asn)
c.101834T>A (p.Ile33945Asn)
c.99176T>A (p.Ile33059Asn)
c.99095T>A (p.Ile33032Asn)
c.80858T>A (p.Ile26953Asn)
c.70712T>A (p.Ile23571Asn)
2g.178527027_178527028delCA2586970710TTN,TTN-AS1c.100258_100259del (p.Ile33420SerfsTer26)
c.81343_81344del (p.Ile27115SerfsTer?)
c.81142_81143del (p.Ile27048SerfsTer?)
c.81343_81344del (p.Ile27115SerfsTer26)
c.81142_81143del (p.Ile27048SerfsTer26)
c.80767_80768del (p.Ile26923SerfsTer26)
c.107962_107963del (p.Ile35988SerfsTer26)
c.103039_103040del (p.Ile34347SerfsTer26)
n.446+3391_446+3392del
n.219+3391_219+3392del
c.107059_107060del (p.Ile35687SerfsTer26)
c.80953_80954del (p.Ile26985SerfsTer26)
c.80812_80813del (p.Ile26938SerfsTer26)
c.106855_106856del (p.Ile35619SerfsTer26)
c.102253_102254del (p.Ile34085SerfsTer26)
c.102250_102251del (p.Ile34084SerfsTer26)
c.99292_99293del (p.Ile33098SerfsTer26)
c.80908_80909del (p.Ile26970SerfsTer26)
c.102403_102404del (p.Ile34135SerfsTer26)
c.102400_102401del (p.Ile34134SerfsTer26)
c.101833_101834del (p.Ile33945SerfsTer26)
c.99175_99176del (p.Ile33059SerfsTer26)
c.99094_99095del (p.Ile33032SerfsTer26)
c.80857_80858del (p.Ile26953SerfsTer26)
c.70711_70712del (p.Ile23571SerfsTer26)
2g.178527026T>ACA349398163TTN,TTN-AS1c.100258A>T (p.Ile33420Phe)
c.81343A>T (p.Ile27115Phe)
c.81142A>T (p.Ile27048Phe)
c.80767A>T (p.Ile26923Phe)
c.107962A>T (p.Ile35988Phe)
c.103039A>T (p.Ile34347Phe)
n.446+3390T>A
n.219+3390T>A
c.107059A>T (p.Ile35687Phe)
c.80953A>T (p.Ile26985Phe)
c.80812A>T (p.Ile26938Phe)
c.106855A>T (p.Ile35619Phe)
c.102253A>T (p.Ile34085Phe)
c.102250A>T (p.Ile34084Phe)
c.99292A>T (p.Ile33098Phe)
c.80908A>T (p.Ile26970Phe)
c.102403A>T (p.Ile34135Phe)
c.102400A>T (p.Ile34134Phe)
c.101833A>T (p.Ile33945Phe)
c.99175A>T (p.Ile33059Phe)
c.99094A>T (p.Ile33032Phe)
c.80857A>T (p.Ile26953Phe)
c.70711A>T (p.Ile23571Phe)
2g.178527026T>CCA349398161TTN,TTN-AS1c.100258A>G (p.Ile33420Val)
c.81343A>G (p.Ile27115Val)
c.81142A>G (p.Ile27048Val)
c.80767A>G (p.Ile26923Val)
c.107962A>G (p.Ile35988Val)
c.103039A>G (p.Ile34347Val)
n.446+3390T>C
n.219+3390T>C
c.107059A>G (p.Ile35687Val)
c.80953A>G (p.Ile26985Val)
c.80812A>G (p.Ile26938Val)
c.106855A>G (p.Ile35619Val)
c.102253A>G (p.Ile34085Val)
c.102250A>G (p.Ile34084Val)
c.99292A>G (p.Ile33098Val)
c.80908A>G (p.Ile26970Val)
c.102403A>G (p.Ile34135Val)
c.102400A>G (p.Ile34134Val)
c.101833A>G (p.Ile33945Val)
c.99175A>G (p.Ile33059Val)
c.99094A>G (p.Ile33032Val)
c.80857A>G (p.Ile26953Val)
c.70711A>G (p.Ile23571Val)
 gnomAD v4
2g.178527026T>GCA349398162TTN,TTN-AS1c.100258A>C (p.Ile33420Leu)
c.81343A>C (p.Ile27115Leu)
c.81142A>C (p.Ile27048Leu)
c.80767A>C (p.Ile26923Leu)
c.107962A>C (p.Ile35988Leu)
c.103039A>C (p.Ile34347Leu)
n.446+3390T>G
n.219+3390T>G
c.107059A>C (p.Ile35687Leu)
c.80953A>C (p.Ile26985Leu)
c.80812A>C (p.Ile26938Leu)
c.106855A>C (p.Ile35619Leu)
c.102253A>C (p.Ile34085Leu)
c.102250A>C (p.Ile34084Leu)
c.99292A>C (p.Ile33098Leu)
c.80908A>C (p.Ile26970Leu)
c.102403A>C (p.Ile34135Leu)
c.102400A>C (p.Ile34134Leu)
c.101833A>C (p.Ile33945Leu)
c.99175A>C (p.Ile33059Leu)
c.99094A>C (p.Ile33032Leu)
c.80857A>C (p.Ile26953Leu)
c.70711A>C (p.Ile23571Leu)
2g.178527027A=CA1310514274TTN,TTN-AS1c.100257T= (p.His33419=)
c.81342T= (p.His27114=)
c.81141T= (p.His27047=)
c.80766T= (p.His26922=)
c.107961T= (p.His35987=)
c.103038T= (p.His34346=)
n.446+3391A=
n.219+3391A=
c.107058T= (p.His35686=)
c.80952T= (p.His26984=)
c.80811T= (p.His26937=)
c.106854T= (p.His35618=)
c.102252T= (p.His34084=)
c.102249T= (p.His34083=)
c.99291T= (p.His33097=)
c.80907T= (p.His26969=)
c.102402T= (p.His34134=)
c.102399T= (p.His34133=)
c.101832T= (p.His33944=)
c.99174T= (p.His33058=)
c.99093T= (p.His33031=)
c.80856T= (p.His26952=)
c.70710T= (p.His23570=)
2g.178527027A>CCA349398164TTN,TTN-AS1c.100257T>G (p.His33419Gln)
c.81342T>G (p.His27114Gln)
c.81141T>G (p.His27047Gln)
c.80766T>G (p.His26922Gln)
c.107961T>G (p.His35987Gln)
c.103038T>G (p.His34346Gln)
n.446+3391A>C
n.219+3391A>C
c.107058T>G (p.His35686Gln)
c.80952T>G (p.His26984Gln)
c.80811T>G (p.His26937Gln)
c.106854T>G (p.His35618Gln)
c.102252T>G (p.His34084Gln)
c.102249T>G (p.His34083Gln)
c.99291T>G (p.His33097Gln)
c.80907T>G (p.His26969Gln)
c.102402T>G (p.His34134Gln)
c.102399T>G (p.His34133Gln)
c.101832T>G (p.His33944Gln)
c.99174T>G (p.His33058Gln)
c.99093T>G (p.His33031Gln)
c.80856T>G (p.His26952Gln)
c.70710T>G (p.His23570Gln)
2g.178527027A>GCA295714TTN,TTN-AS1c.100257T>C (p.His33419=)
c.81342T>C (p.His27114=)
c.81141T>C (p.His27047=)
c.80766T>C (p.His26922=)
c.107961T>C (p.His35987=)
c.103038T>C (p.His34346=)
n.446+3391A>G
n.219+3391A>G
c.107058T>C (p.His35686=)
c.80952T>C (p.His26984=)
c.80811T>C (p.His26937=)
c.106854T>C (p.His35618=)
c.102252T>C (p.His34084=)
c.102249T>C (p.His34083=)
c.99291T>C (p.His33097=)
c.80907T>C (p.His26969=)
c.102402T>C (p.His34134=)
c.102399T>C (p.His34133=)
c.101832T>C (p.His33944=)
c.99174T>C (p.His33058=)
c.99093T>C (p.His33031=)
c.80856T>C (p.His26952=)
c.70710T>C (p.His23570=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178527027A>TCA349398165TTN,TTN-AS1c.100257T>A (p.His33419Gln)
c.81342T>A (p.His27114Gln)
c.81141T>A (p.His27047Gln)
c.80766T>A (p.His26922Gln)
c.107961T>A (p.His35987Gln)
c.103038T>A (p.His34346Gln)
n.446+3391A>T
n.219+3391A>T
c.107058T>A (p.His35686Gln)
c.80952T>A (p.His26984Gln)
c.80811T>A (p.His26937Gln)
c.106854T>A (p.His35618Gln)
c.102252T>A (p.His34084Gln)
c.102249T>A (p.His34083Gln)
c.99291T>A (p.His33097Gln)
c.80907T>A (p.His26969Gln)
c.102402T>A (p.His34134Gln)
c.102399T>A (p.His34133Gln)
c.101832T>A (p.His33944Gln)
c.99174T>A (p.His33058Gln)
c.99093T>A (p.His33031Gln)
c.80856T>A (p.His26952Gln)
c.70710T>A (p.His23570Gln)
2g.178527028T>ACA349398166TTN,TTN-AS1c.100256A>T (p.His33419Leu)
c.81341A>T (p.His27114Leu)
c.81140A>T (p.His27047Leu)
c.80765A>T (p.His26922Leu)
c.107960A>T (p.His35987Leu)
c.103037A>T (p.His34346Leu)
n.446+3392T>A
n.219+3392T>A
c.107057A>T (p.His35686Leu)
c.80951A>T (p.His26984Leu)
c.80810A>T (p.His26937Leu)
c.106853A>T (p.His35618Leu)
c.102251A>T (p.His34084Leu)
c.102248A>T (p.His34083Leu)
c.99290A>T (p.His33097Leu)
c.80906A>T (p.His26969Leu)
c.102401A>T (p.His34134Leu)
c.102398A>T (p.His34133Leu)
c.101831A>T (p.His33944Leu)
c.99173A>T (p.His33058Leu)
c.99092A>T (p.His33031Leu)
c.80855A>T (p.His26952Leu)
c.70709A>T (p.His23570Leu)
2g.178527028T>CCA1984854TTN,TTN-AS1c.100256A>G (p.His33419Arg)
c.81341A>G (p.His27114Arg)
c.81140A>G (p.His27047Arg)
c.80765A>G (p.His26922Arg)
c.107960A>G (p.His35987Arg)
c.103037A>G (p.His34346Arg)
n.446+3392T>C
n.219+3392T>C
c.107057A>G (p.His35686Arg)
c.80951A>G (p.His26984Arg)
c.80810A>G (p.His26937Arg)
c.106853A>G (p.His35618Arg)
c.102251A>G (p.His34084Arg)
c.102248A>G (p.His34083Arg)
c.99290A>G (p.His33097Arg)
c.80906A>G (p.His26969Arg)
c.102401A>G (p.His34134Arg)
c.102398A>G (p.His34133Arg)
c.101831A>G (p.His33944Arg)
c.99173A>G (p.His33058Arg)
c.99092A>G (p.His33031Arg)
c.80855A>G (p.His26952Arg)
c.70709A>G (p.His23570Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527028T>GCA349398167TTN,TTN-AS1c.100256A>C (p.His33419Pro)
c.81341A>C (p.His27114Pro)
c.81140A>C (p.His27047Pro)
c.80765A>C (p.His26922Pro)
c.107960A>C (p.His35987Pro)
c.103037A>C (p.His34346Pro)
n.446+3392T>G
n.219+3392T>G
c.107057A>C (p.His35686Pro)
c.80951A>C (p.His26984Pro)
c.80810A>C (p.His26937Pro)
c.106853A>C (p.His35618Pro)
c.102251A>C (p.His34084Pro)
c.102248A>C (p.His34083Pro)
c.99290A>C (p.His33097Pro)
c.80906A>C (p.His26969Pro)
c.102401A>C (p.His34134Pro)
c.102398A>C (p.His34133Pro)
c.101831A>C (p.His33944Pro)
c.99173A>C (p.His33058Pro)
c.99092A>C (p.His33031Pro)
c.80855A>C (p.His26952Pro)
c.70709A>C (p.His23570Pro)
2g.178527028T=CA1310514275TTN,TTN-AS1c.100256A= (p.His33419=)
c.81341A= (p.His27114=)
c.81140A= (p.His27047=)
c.80765A= (p.His26922=)
c.107960A= (p.His35987=)
c.103037A= (p.His34346=)
n.446+3392T=
n.219+3392T=
c.107057A= (p.His35686=)
c.80951A= (p.His26984=)
c.80810A= (p.His26937=)
c.106853A= (p.His35618=)
c.102251A= (p.His34084=)
c.102248A= (p.His34083=)
c.99290A= (p.His33097=)
c.80906A= (p.His26969=)
c.102401A= (p.His34134=)
c.102398A= (p.His34133=)
c.101831A= (p.His33944=)
c.99173A= (p.His33058=)
c.99092A= (p.His33031=)
c.80855A= (p.His26952=)
c.70709A= (p.His23570=)
2g.178527029G>ACA349398168TTN,TTN-AS1c.100255C>T (p.His33419Tyr)
c.81340C>T (p.His27114Tyr)
c.81139C>T (p.His27047Tyr)
c.80764C>T (p.His26922Tyr)
c.107959C>T (p.His35987Tyr)
c.103036C>T (p.His34346Tyr)
n.446+3393G>A
n.219+3393G>A
c.107056C>T (p.His35686Tyr)
c.80950C>T (p.His26984Tyr)
c.80809C>T (p.His26937Tyr)
c.106852C>T (p.His35618Tyr)
c.102250C>T (p.His34084Tyr)
c.102247C>T (p.His34083Tyr)
c.99289C>T (p.His33097Tyr)
c.80905C>T (p.His26969Tyr)
c.102400C>T (p.His34134Tyr)
c.102397C>T (p.His34133Tyr)
c.101830C>T (p.His33944Tyr)
c.99172C>T (p.His33058Tyr)
c.99091C>T (p.His33031Tyr)
c.80854C>T (p.His26952Tyr)
c.70708C>T (p.His23570Tyr)
2g.178527029G>CCA349398169TTN,TTN-AS1c.100255C>G (p.His33419Asp)
c.81340C>G (p.His27114Asp)
c.81139C>G (p.His27047Asp)
c.80764C>G (p.His26922Asp)
c.107959C>G (p.His35987Asp)
c.103036C>G (p.His34346Asp)
n.446+3393G>C
n.219+3393G>C
c.107056C>G (p.His35686Asp)
c.80950C>G (p.His26984Asp)
c.80809C>G (p.His26937Asp)
c.106852C>G (p.His35618Asp)
c.102250C>G (p.His34084Asp)
c.102247C>G (p.His34083Asp)
c.99289C>G (p.His33097Asp)
c.80905C>G (p.His26969Asp)
c.102400C>G (p.His34134Asp)
c.102397C>G (p.His34133Asp)
c.101830C>G (p.His33944Asp)
c.99172C>G (p.His33058Asp)
c.99091C>G (p.His33031Asp)
c.80854C>G (p.His26952Asp)
c.70708C>G (p.His23570Asp)
2g.178527029G>TCA349398170TTN,TTN-AS1c.100255C>A (p.His33419Asn)
c.81340C>A (p.His27114Asn)
c.81139C>A (p.His27047Asn)
c.80764C>A (p.His26922Asn)
c.107959C>A (p.His35987Asn)
c.103036C>A (p.His34346Asn)
n.446+3393G>T
n.219+3393G>T
c.107056C>A (p.His35686Asn)
c.80950C>A (p.His26984Asn)
c.80809C>A (p.His26937Asn)
c.106852C>A (p.His35618Asn)
c.102250C>A (p.His34084Asn)
c.102247C>A (p.His34083Asn)
c.99289C>A (p.His33097Asn)
c.80905C>A (p.His26969Asn)
c.102400C>A (p.His34134Asn)
c.102397C>A (p.His34133Asn)
c.101830C>A (p.His33944Asn)
c.99172C>A (p.His33058Asn)
c.99091C>A (p.His33031Asn)
c.80854C>A (p.His26952Asn)
c.70708C>A (p.His23570Asn)
 dbSNP gnomAD v4
2g.178527030T>ACA430091460TTN,TTN-AS1c.100254A>T (p.Ile33418=)
c.81339A>T (p.Ile27113=)
c.81138A>T (p.Ile27046=)
c.80763A>T (p.Ile26921=)
c.107958A>T (p.Ile35986=)
c.103035A>T (p.Ile34345=)
n.446+3394T>A
n.219+3394T>A
c.107055A>T (p.Ile35685=)
c.80949A>T (p.Ile26983=)
c.80808A>T (p.Ile26936=)
c.106851A>T (p.Ile35617=)
c.102249A>T (p.Ile34083=)
c.102246A>T (p.Ile34082=)
c.99288A>T (p.Ile33096=)
c.80904A>T (p.Ile26968=)
c.102399A>T (p.Ile34133=)
c.102396A>T (p.Ile34132=)
c.101829A>T (p.Ile33943=)
c.99171A>T (p.Ile33057=)
c.99090A>T (p.Ile33030=)
c.80853A>T (p.Ile26951=)
c.70707A>T (p.Ile23569=)
2g.178527030T>CCA349398171TTN,TTN-AS1c.100254A>G (p.Ile33418Met)
c.81339A>G (p.Ile27113Met)
c.81138A>G (p.Ile27046Met)
c.80763A>G (p.Ile26921Met)
c.107958A>G (p.Ile35986Met)
c.103035A>G (p.Ile34345Met)
n.446+3394T>C
n.219+3394T>C
c.107055A>G (p.Ile35685Met)
c.80949A>G (p.Ile26983Met)
c.80808A>G (p.Ile26936Met)
c.106851A>G (p.Ile35617Met)
c.102249A>G (p.Ile34083Met)
c.102246A>G (p.Ile34082Met)
c.99288A>G (p.Ile33096Met)
c.80904A>G (p.Ile26968Met)
c.102399A>G (p.Ile34133Met)
c.102396A>G (p.Ile34132Met)
c.101829A>G (p.Ile33943Met)
c.99171A>G (p.Ile33057Met)
c.99090A>G (p.Ile33030Met)
c.80853A>G (p.Ile26951Met)
c.70707A>G (p.Ile23569Met)
 gnomAD v4
2g.178527030T>GCA430091461TTN,TTN-AS1c.100254A>C (p.Ile33418=)
c.81339A>C (p.Ile27113=)
c.81138A>C (p.Ile27046=)
c.80763A>C (p.Ile26921=)
c.107958A>C (p.Ile35986=)
c.103035A>C (p.Ile34345=)
n.446+3394T>G
n.219+3394T>G
c.107055A>C (p.Ile35685=)
c.80949A>C (p.Ile26983=)
c.80808A>C (p.Ile26936=)
c.106851A>C (p.Ile35617=)
c.102249A>C (p.Ile34083=)
c.102246A>C (p.Ile34082=)
c.99288A>C (p.Ile33096=)
c.80904A>C (p.Ile26968=)
c.102399A>C (p.Ile34133=)
c.102396A>C (p.Ile34132=)
c.101829A>C (p.Ile33943=)
c.99171A>C (p.Ile33057=)
c.99090A>C (p.Ile33030=)
c.80853A>C (p.Ile26951=)
c.70707A>C (p.Ile23569=)
2g.178527031A=CA1310514276TTN,TTN-AS1c.100253T= (p.Ile33418=)
c.81338T= (p.Ile27113=)
c.81137T= (p.Ile27046=)
c.80762T= (p.Ile26921=)
c.107957T= (p.Ile35986=)
c.103034T= (p.Ile34345=)
n.446+3395A=
n.219+3395A=
c.107054T= (p.Ile35685=)
c.80948T= (p.Ile26983=)
c.80807T= (p.Ile26936=)
c.106850T= (p.Ile35617=)
c.102248T= (p.Ile34083=)
c.102245T= (p.Ile34082=)
c.99287T= (p.Ile33096=)
c.80903T= (p.Ile26968=)
c.102398T= (p.Ile34133=)
c.102395T= (p.Ile34132=)
c.101828T= (p.Ile33943=)
c.99170T= (p.Ile33057=)
c.99089T= (p.Ile33030=)
c.80852T= (p.Ile26951=)
c.70706T= (p.Ile23569=)
2g.178527031A>CCA349398172TTN,TTN-AS1c.100253T>G (p.Ile33418Arg)
c.81338T>G (p.Ile27113Arg)
c.81137T>G (p.Ile27046Arg)
c.80762T>G (p.Ile26921Arg)
c.107957T>G (p.Ile35986Arg)
c.103034T>G (p.Ile34345Arg)
n.446+3395A>C
n.219+3395A>C
c.107054T>G (p.Ile35685Arg)
c.80948T>G (p.Ile26983Arg)
c.80807T>G (p.Ile26936Arg)
c.106850T>G (p.Ile35617Arg)
c.102248T>G (p.Ile34083Arg)
c.102245T>G (p.Ile34082Arg)
c.99287T>G (p.Ile33096Arg)
c.80903T>G (p.Ile26968Arg)
c.102398T>G (p.Ile34133Arg)
c.102395T>G (p.Ile34132Arg)
c.101828T>G (p.Ile33943Arg)
c.99170T>G (p.Ile33057Arg)
c.99089T>G (p.Ile33030Arg)
c.80852T>G (p.Ile26951Arg)
c.70706T>G (p.Ile23569Arg)
2g.178527031A>GCA16610284TTN,TTN-AS1c.100253T>C (p.Ile33418Thr)
c.81338T>C (p.Ile27113Thr)
c.81137T>C (p.Ile27046Thr)
c.80762T>C (p.Ile26921Thr)
c.107957T>C (p.Ile35986Thr)
c.103034T>C (p.Ile34345Thr)
n.446+3395A>G
n.219+3395A>G
c.107054T>C (p.Ile35685Thr)
c.80948T>C (p.Ile26983Thr)
c.80807T>C (p.Ile26936Thr)
c.106850T>C (p.Ile35617Thr)
c.102248T>C (p.Ile34083Thr)
c.102245T>C (p.Ile34082Thr)
c.99287T>C (p.Ile33096Thr)
c.80903T>C (p.Ile26968Thr)
c.102398T>C (p.Ile34133Thr)
c.102395T>C (p.Ile34132Thr)
c.101828T>C (p.Ile33943Thr)
c.99170T>C (p.Ile33057Thr)
c.99089T>C (p.Ile33030Thr)
c.80852T>C (p.Ile26951Thr)
c.70706T>C (p.Ile23569Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178527031A>TCA349398173TTN,TTN-AS1c.100253T>A (p.Ile33418Lys)
c.81338T>A (p.Ile27113Lys)
c.81137T>A (p.Ile27046Lys)
c.80762T>A (p.Ile26921Lys)
c.107957T>A (p.Ile35986Lys)
c.103034T>A (p.Ile34345Lys)
n.446+3395A>T
n.219+3395A>T
c.107054T>A (p.Ile35685Lys)
c.80948T>A (p.Ile26983Lys)
c.80807T>A (p.Ile26936Lys)
c.106850T>A (p.Ile35617Lys)
c.102248T>A (p.Ile34083Lys)
c.102245T>A (p.Ile34082Lys)
c.99287T>A (p.Ile33096Lys)
c.80903T>A (p.Ile26968Lys)
c.102398T>A (p.Ile34133Lys)
c.102395T>A (p.Ile34132Lys)
c.101828T>A (p.Ile33943Lys)
c.99170T>A (p.Ile33057Lys)
c.99089T>A (p.Ile33030Lys)
c.80852T>A (p.Ile26951Lys)
c.70706T>A (p.Ile23569Lys)
2g.178527032T>ACA349398175TTN,TTN-AS1c.100252A>T (p.Ile33418Leu)
c.81337A>T (p.Ile27113Leu)
c.81136A>T (p.Ile27046Leu)
c.80761A>T (p.Ile26921Leu)
c.107956A>T (p.Ile35986Leu)
c.103033A>T (p.Ile34345Leu)
n.446+3396T>A
n.219+3396T>A
c.107053A>T (p.Ile35685Leu)
c.80947A>T (p.Ile26983Leu)
c.80806A>T (p.Ile26936Leu)
c.106849A>T (p.Ile35617Leu)
c.102247A>T (p.Ile34083Leu)
c.102244A>T (p.Ile34082Leu)
c.99286A>T (p.Ile33096Leu)
c.80902A>T (p.Ile26968Leu)
c.102397A>T (p.Ile34133Leu)
c.102394A>T (p.Ile34132Leu)
c.101827A>T (p.Ile33943Leu)
c.99169A>T (p.Ile33057Leu)
c.99088A>T (p.Ile33030Leu)
c.80851A>T (p.Ile26951Leu)
c.70705A>T (p.Ile23569Leu)
2g.178527032T>CCA16621775TTN,TTN-AS1c.100252A>G (p.Ile33418Val)
c.81337A>G (p.Ile27113Val)
c.81136A>G (p.Ile27046Val)
c.80761A>G (p.Ile26921Val)
c.107956A>G (p.Ile35986Val)
c.103033A>G (p.Ile34345Val)
n.446+3396T>C
n.219+3396T>C
c.107053A>G (p.Ile35685Val)
c.80947A>G (p.Ile26983Val)
c.80806A>G (p.Ile26936Val)
c.106849A>G (p.Ile35617Val)
c.102247A>G (p.Ile34083Val)
c.102244A>G (p.Ile34082Val)
c.99286A>G (p.Ile33096Val)
c.80902A>G (p.Ile26968Val)
c.102397A>G (p.Ile34133Val)
c.102394A>G (p.Ile34132Val)
c.101827A>G (p.Ile33943Val)
c.99169A>G (p.Ile33057Val)
c.99088A>G (p.Ile33030Val)
c.80851A>G (p.Ile26951Val)
c.70705A>G (p.Ile23569Val)
 ClinVar dbSNP
2g.178527032T>GCA349398174TTN,TTN-AS1c.100252A>C (p.Ile33418Leu)
c.81337A>C (p.Ile27113Leu)
c.81136A>C (p.Ile27046Leu)
c.80761A>C (p.Ile26921Leu)
c.107956A>C (p.Ile35986Leu)
c.103033A>C (p.Ile34345Leu)
n.446+3396T>G
n.219+3396T>G
c.107053A>C (p.Ile35685Leu)
c.80947A>C (p.Ile26983Leu)
c.80806A>C (p.Ile26936Leu)
c.106849A>C (p.Ile35617Leu)
c.102247A>C (p.Ile34083Leu)
c.102244A>C (p.Ile34082Leu)
c.99286A>C (p.Ile33096Leu)
c.80902A>C (p.Ile26968Leu)
c.102397A>C (p.Ile34133Leu)
c.102394A>C (p.Ile34132Leu)
c.101827A>C (p.Ile33943Leu)
c.99169A>C (p.Ile33057Leu)
c.99088A>C (p.Ile33030Leu)
c.80851A>C (p.Ile26951Leu)
c.70705A>C (p.Ile23569Leu)
2g.178527032T=CA1310514277TTN,TTN-AS1c.100252A= (p.Ile33418=)
c.81337A= (p.Ile27113=)
c.81136A= (p.Ile27046=)
c.80761A= (p.Ile26921=)
c.107956A= (p.Ile35986=)
c.103033A= (p.Ile34345=)
n.446+3396T=
n.219+3396T=
c.107053A= (p.Ile35685=)
c.80947A= (p.Ile26983=)
c.80806A= (p.Ile26936=)
c.106849A= (p.Ile35617=)
c.102247A= (p.Ile34083=)
c.102244A= (p.Ile34082=)
c.99286A= (p.Ile33096=)
c.80902A= (p.Ile26968=)
c.102397A= (p.Ile34133=)
c.102394A= (p.Ile34132=)
c.101827A= (p.Ile33943=)
c.99169A= (p.Ile33057=)
c.99088A= (p.Ile33030=)
c.80851A= (p.Ile26951=)
c.70705A= (p.Ile23569=)
2g.178527033A>CCA349398176TTN,TTN-AS1c.100251T>G (p.Asn33417Lys)
c.81336T>G (p.Asn27112Lys)
c.81135T>G (p.Asn27045Lys)
c.80760T>G (p.Asn26920Lys)
c.107955T>G (p.Asn35985Lys)
c.103032T>G (p.Asn34344Lys)
n.446+3397A>C
n.219+3397A>C
c.107052T>G (p.Asn35684Lys)
c.80946T>G (p.Asn26982Lys)
c.80805T>G (p.Asn26935Lys)
c.106848T>G (p.Asn35616Lys)
c.102246T>G (p.Asn34082Lys)
c.102243T>G (p.Asn34081Lys)
c.99285T>G (p.Asn33095Lys)
c.80901T>G (p.Asn26967Lys)
c.102396T>G (p.Asn34132Lys)
c.102393T>G (p.Asn34131Lys)
c.101826T>G (p.Asn33942Lys)
c.99168T>G (p.Asn33056Lys)
c.99087T>G (p.Asn33029Lys)
c.80850T>G (p.Asn26950Lys)
c.70704T>G (p.Asn23568Lys)
2g.178527033A>GCA430091462TTN,TTN-AS1c.100251T>C (p.Asn33417=)
c.81336T>C (p.Asn27112=)
c.81135T>C (p.Asn27045=)
c.80760T>C (p.Asn26920=)
c.107955T>C (p.Asn35985=)
c.103032T>C (p.Asn34344=)
n.446+3397A>G
n.219+3397A>G
c.107052T>C (p.Asn35684=)
c.80946T>C (p.Asn26982=)
c.80805T>C (p.Asn26935=)
c.106848T>C (p.Asn35616=)
c.102246T>C (p.Asn34082=)
c.102243T>C (p.Asn34081=)
c.99285T>C (p.Asn33095=)
c.80901T>C (p.Asn26967=)
c.102396T>C (p.Asn34132=)
c.102393T>C (p.Asn34131=)
c.101826T>C (p.Asn33942=)
c.99168T>C (p.Asn33056=)
c.99087T>C (p.Asn33029=)
c.80850T>C (p.Asn26950=)
c.70704T>C (p.Asn23568=)
2g.178527033A>TCA349398177TTN,TTN-AS1c.100251T>A (p.Asn33417Lys)
c.81336T>A (p.Asn27112Lys)
c.81135T>A (p.Asn27045Lys)
c.80760T>A (p.Asn26920Lys)
c.107955T>A (p.Asn35985Lys)
c.103032T>A (p.Asn34344Lys)
n.446+3397A>T
n.219+3397A>T
c.107052T>A (p.Asn35684Lys)
c.80946T>A (p.Asn26982Lys)
c.80805T>A (p.Asn26935Lys)
c.106848T>A (p.Asn35616Lys)
c.102246T>A (p.Asn34082Lys)
c.102243T>A (p.Asn34081Lys)
c.99285T>A (p.Asn33095Lys)
c.80901T>A (p.Asn26967Lys)
c.102396T>A (p.Asn34132Lys)
c.102393T>A (p.Asn34131Lys)
c.101826T>A (p.Asn33942Lys)
c.99168T>A (p.Asn33056Lys)
c.99087T>A (p.Asn33029Lys)
c.80850T>A (p.Asn26950Lys)
c.70704T>A (p.Asn23568Lys)
2g.178527034T>ACA349398178TTN,TTN-AS1c.100250A>T (p.Asn33417Ile)
c.81335A>T (p.Asn27112Ile)
c.81134A>T (p.Asn27045Ile)
c.80759A>T (p.Asn26920Ile)
c.107954A>T (p.Asn35985Ile)
c.103031A>T (p.Asn34344Ile)
n.446+3398T>A
n.219+3398T>A
c.107051A>T (p.Asn35684Ile)
c.80945A>T (p.Asn26982Ile)
c.80804A>T (p.Asn26935Ile)
c.106847A>T (p.Asn35616Ile)
c.102245A>T (p.Asn34082Ile)
c.102242A>T (p.Asn34081Ile)
c.99284A>T (p.Asn33095Ile)
c.80900A>T (p.Asn26967Ile)
c.102395A>T (p.Asn34132Ile)
c.102392A>T (p.Asn34131Ile)
c.101825A>T (p.Asn33942Ile)
c.99167A>T (p.Asn33056Ile)
c.99086A>T (p.Asn33029Ile)
c.80849A>T (p.Asn26950Ile)
c.70703A>T (p.Asn23568Ile)
2g.178527034T>CCA349398179TTN,TTN-AS1c.100250A>G (p.Asn33417Ser)
c.81335A>G (p.Asn27112Ser)
c.81134A>G (p.Asn27045Ser)
c.80759A>G (p.Asn26920Ser)
c.107954A>G (p.Asn35985Ser)
c.103031A>G (p.Asn34344Ser)
n.446+3398T>C
n.219+3398T>C
c.107051A>G (p.Asn35684Ser)
c.80945A>G (p.Asn26982Ser)
c.80804A>G (p.Asn26935Ser)
c.106847A>G (p.Asn35616Ser)
c.102245A>G (p.Asn34082Ser)
c.102242A>G (p.Asn34081Ser)
c.99284A>G (p.Asn33095Ser)
c.80900A>G (p.Asn26967Ser)
c.102395A>G (p.Asn34132Ser)
c.102392A>G (p.Asn34131Ser)
c.101825A>G (p.Asn33942Ser)
c.99167A>G (p.Asn33056Ser)
c.99086A>G (p.Asn33029Ser)
c.80849A>G (p.Asn26950Ser)
c.70703A>G (p.Asn23568Ser)
2g.178527034T>GCA349398180TTN,TTN-AS1c.100250A>C (p.Asn33417Thr)
c.81335A>C (p.Asn27112Thr)
c.81134A>C (p.Asn27045Thr)
c.80759A>C (p.Asn26920Thr)
c.107954A>C (p.Asn35985Thr)
c.103031A>C (p.Asn34344Thr)
n.446+3398T>G
n.219+3398T>G
c.107051A>C (p.Asn35684Thr)
c.80945A>C (p.Asn26982Thr)
c.80804A>C (p.Asn26935Thr)
c.106847A>C (p.Asn35616Thr)
c.102245A>C (p.Asn34082Thr)
c.102242A>C (p.Asn34081Thr)
c.99284A>C (p.Asn33095Thr)
c.80900A>C (p.Asn26967Thr)
c.102395A>C (p.Asn34132Thr)
c.102392A>C (p.Asn34131Thr)
c.101825A>C (p.Asn33942Thr)
c.99167A>C (p.Asn33056Thr)
c.99086A>C (p.Asn33029Thr)
c.80849A>C (p.Asn26950Thr)
c.70703A>C (p.Asn23568Thr)

Number of alleles fetched