Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178530534T>ACA349407075TTN,TTN-AS1c.98377A>T (p.Ile32793Phe)
c.79462A>T (p.Ile26488Phe)
c.79261A>T (p.Ile26421Phe)
c.78886A>T (p.Ile26296Phe)
c.106081A>T (p.Ile35361Phe)
c.101158A>T (p.Ile33720Phe)
n.446+6898T>A
n.220-5198T>A
c.105178A>T (p.Ile35060Phe)
c.79072A>T (p.Ile26358Phe)
c.78931A>T (p.Ile26311Phe)
c.104974A>T (p.Ile34992Phe)
c.100372A>T (p.Ile33458Phe)
c.100369A>T (p.Ile33457Phe)
c.97411A>T (p.Ile32471Phe)
c.79027A>T (p.Ile26343Phe)
c.100522A>T (p.Ile33508Phe)
c.100519A>T (p.Ile33507Phe)
c.99952A>T (p.Ile33318Phe)
c.97294A>T (p.Ile32432Phe)
c.97213A>T (p.Ile32405Phe)
c.78976A>T (p.Ile26326Phe)
c.68830A>T (p.Ile22944Phe)
2g.178530534T>CCA349407074TTN,TTN-AS1c.98377A>G (p.Ile32793Val)
c.79462A>G (p.Ile26488Val)
c.79261A>G (p.Ile26421Val)
c.78886A>G (p.Ile26296Val)
c.106081A>G (p.Ile35361Val)
c.101158A>G (p.Ile33720Val)
n.446+6898T>C
n.220-5198T>C
c.105178A>G (p.Ile35060Val)
c.79072A>G (p.Ile26358Val)
c.78931A>G (p.Ile26311Val)
c.104974A>G (p.Ile34992Val)
c.100372A>G (p.Ile33458Val)
c.100369A>G (p.Ile33457Val)
c.97411A>G (p.Ile32471Val)
c.79027A>G (p.Ile26343Val)
c.100522A>G (p.Ile33508Val)
c.100519A>G (p.Ile33507Val)
c.99952A>G (p.Ile33318Val)
c.97294A>G (p.Ile32432Val)
c.97213A>G (p.Ile32405Val)
c.78976A>G (p.Ile26326Val)
c.68830A>G (p.Ile22944Val)
 dbSNP
2g.178530534T>GCA349407073TTN,TTN-AS1c.98377A>C (p.Ile32793Leu)
c.79462A>C (p.Ile26488Leu)
c.79261A>C (p.Ile26421Leu)
c.78886A>C (p.Ile26296Leu)
c.106081A>C (p.Ile35361Leu)
c.101158A>C (p.Ile33720Leu)
n.446+6898T>G
n.220-5198T>G
c.105178A>C (p.Ile35060Leu)
c.79072A>C (p.Ile26358Leu)
c.78931A>C (p.Ile26311Leu)
c.104974A>C (p.Ile34992Leu)
c.100372A>C (p.Ile33458Leu)
c.100369A>C (p.Ile33457Leu)
c.97411A>C (p.Ile32471Leu)
c.79027A>C (p.Ile26343Leu)
c.100522A>C (p.Ile33508Leu)
c.100519A>C (p.Ile33507Leu)
c.99952A>C (p.Ile33318Leu)
c.97294A>C (p.Ile32432Leu)
c.97213A>C (p.Ile32405Leu)
c.78976A>C (p.Ile26326Leu)
c.68830A>C (p.Ile22944Leu)
2g.178530535C>ACA349407076TTN,TTN-AS1c.98376G>T (p.Glu32792Asp)
c.79461G>T (p.Glu26487Asp)
c.79260G>T (p.Glu26420Asp)
c.78885G>T (p.Glu26295Asp)
c.106080G>T (p.Glu35360Asp)
c.101157G>T (p.Glu33719Asp)
n.446+6899C>A
n.220-5197C>A
c.105177G>T (p.Glu35059Asp)
c.79071G>T (p.Glu26357Asp)
c.78930G>T (p.Glu26310Asp)
c.104973G>T (p.Glu34991Asp)
c.100371G>T (p.Glu33457Asp)
c.100368G>T (p.Glu33456Asp)
c.97410G>T (p.Glu32470Asp)
c.79026G>T (p.Glu26342Asp)
c.100521G>T (p.Glu33507Asp)
c.100518G>T (p.Glu33506Asp)
c.99951G>T (p.Glu33317Asp)
c.97293G>T (p.Glu32431Asp)
c.97212G>T (p.Glu32404Asp)
c.78975G>T (p.Glu26325Asp)
c.68829G>T (p.Glu22943Asp)
2g.178530535C>GCA349407077TTN,TTN-AS1c.98376G>C (p.Glu32792Asp)
c.79461G>C (p.Glu26487Asp)
c.79260G>C (p.Glu26420Asp)
c.78885G>C (p.Glu26295Asp)
c.106080G>C (p.Glu35360Asp)
c.101157G>C (p.Glu33719Asp)
n.446+6899C>G
n.220-5197C>G
c.105177G>C (p.Glu35059Asp)
c.79071G>C (p.Glu26357Asp)
c.78930G>C (p.Glu26310Asp)
c.104973G>C (p.Glu34991Asp)
c.100371G>C (p.Glu33457Asp)
c.100368G>C (p.Glu33456Asp)
c.97410G>C (p.Glu32470Asp)
c.79026G>C (p.Glu26342Asp)
c.100521G>C (p.Glu33507Asp)
c.100518G>C (p.Glu33506Asp)
c.99951G>C (p.Glu33317Asp)
c.97293G>C (p.Glu32431Asp)
c.97212G>C (p.Glu32404Asp)
c.78975G>C (p.Glu26325Asp)
c.68829G>C (p.Glu22943Asp)
 gnomAD v4
2g.178530535C>TCA430235165TTN,TTN-AS1c.98376G>A (p.Glu32792=)
c.79461G>A (p.Glu26487=)
c.79260G>A (p.Glu26420=)
c.78885G>A (p.Glu26295=)
c.106080G>A (p.Glu35360=)
c.101157G>A (p.Glu33719=)
n.446+6899C>T
n.220-5197C>T
c.105177G>A (p.Glu35059=)
c.79071G>A (p.Glu26357=)
c.78930G>A (p.Glu26310=)
c.104973G>A (p.Glu34991=)
c.100371G>A (p.Glu33457=)
c.100368G>A (p.Glu33456=)
c.97410G>A (p.Glu32470=)
c.79026G>A (p.Glu26342=)
c.100521G>A (p.Glu33507=)
c.100518G>A (p.Glu33506=)
c.99951G>A (p.Glu33317=)
c.97293G>A (p.Glu32431=)
c.97212G>A (p.Glu32404=)
c.78975G>A (p.Glu26325=)
c.68829G>A (p.Glu22943=)
2g.178530536T>ACA349407078TTN,TTN-AS1c.98375A>T (p.Glu32792Val)
c.79460A>T (p.Glu26487Val)
c.79259A>T (p.Glu26420Val)
c.78884A>T (p.Glu26295Val)
c.106079A>T (p.Glu35360Val)
c.101156A>T (p.Glu33719Val)
n.446+6900T>A
n.220-5196T>A
c.105176A>T (p.Glu35059Val)
c.79070A>T (p.Glu26357Val)
c.78929A>T (p.Glu26310Val)
c.104972A>T (p.Glu34991Val)
c.100370A>T (p.Glu33457Val)
c.100367A>T (p.Glu33456Val)
c.97409A>T (p.Glu32470Val)
c.79025A>T (p.Glu26342Val)
c.100520A>T (p.Glu33507Val)
c.100517A>T (p.Glu33506Val)
c.99950A>T (p.Glu33317Val)
c.97292A>T (p.Glu32431Val)
c.97211A>T (p.Glu32404Val)
c.78974A>T (p.Glu26325Val)
c.68828A>T (p.Glu22943Val)
2g.178530536T>CCA349407079TTN,TTN-AS1c.98375A>G (p.Glu32792Gly)
c.79460A>G (p.Glu26487Gly)
c.79259A>G (p.Glu26420Gly)
c.78884A>G (p.Glu26295Gly)
c.106079A>G (p.Glu35360Gly)
c.101156A>G (p.Glu33719Gly)
n.446+6900T>C
n.220-5196T>C
c.105176A>G (p.Glu35059Gly)
c.79070A>G (p.Glu26357Gly)
c.78929A>G (p.Glu26310Gly)
c.104972A>G (p.Glu34991Gly)
c.100370A>G (p.Glu33457Gly)
c.100367A>G (p.Glu33456Gly)
c.97409A>G (p.Glu32470Gly)
c.79025A>G (p.Glu26342Gly)
c.100520A>G (p.Glu33507Gly)
c.100517A>G (p.Glu33506Gly)
c.99950A>G (p.Glu33317Gly)
c.97292A>G (p.Glu32431Gly)
c.97211A>G (p.Glu32404Gly)
c.78974A>G (p.Glu26325Gly)
c.68828A>G (p.Glu22943Gly)
2g.178530536T>GCA349407080TTN,TTN-AS1c.98375A>C (p.Glu32792Ala)
c.79460A>C (p.Glu26487Ala)
c.79259A>C (p.Glu26420Ala)
c.78884A>C (p.Glu26295Ala)
c.106079A>C (p.Glu35360Ala)
c.101156A>C (p.Glu33719Ala)
n.446+6900T>G
n.220-5196T>G
c.105176A>C (p.Glu35059Ala)
c.79070A>C (p.Glu26357Ala)
c.78929A>C (p.Glu26310Ala)
c.104972A>C (p.Glu34991Ala)
c.100370A>C (p.Glu33457Ala)
c.100367A>C (p.Glu33456Ala)
c.97409A>C (p.Glu32470Ala)
c.79025A>C (p.Glu26342Ala)
c.100520A>C (p.Glu33507Ala)
c.100517A>C (p.Glu33506Ala)
c.99950A>C (p.Glu33317Ala)
c.97292A>C (p.Glu32431Ala)
c.97211A>C (p.Glu32404Ala)
c.78974A>C (p.Glu26325Ala)
c.68828A>C (p.Glu22943Ala)
2g.178530537C>ACA349407081TTN,TTN-AS1c.98374G>T (p.Glu32792Ter)
c.79459G>T (p.Glu26487Ter)
c.79258G>T (p.Glu26420Ter)
c.78883G>T (p.Glu26295Ter)
c.106078G>T (p.Glu35360Ter)
c.101155G>T (p.Glu33719Ter)
n.446+6901C>A
n.220-5195C>A
c.105175G>T (p.Glu35059Ter)
c.79069G>T (p.Glu26357Ter)
c.78928G>T (p.Glu26310Ter)
c.104971G>T (p.Glu34991Ter)
c.100369G>T (p.Glu33457Ter)
c.100366G>T (p.Glu33456Ter)
c.97408G>T (p.Glu32470Ter)
c.79024G>T (p.Glu26342Ter)
c.100519G>T (p.Glu33507Ter)
c.100516G>T (p.Glu33506Ter)
c.99949G>T (p.Glu33317Ter)
c.97291G>T (p.Glu32431Ter)
c.97210G>T (p.Glu32404Ter)
c.78973G>T (p.Glu26325Ter)
c.68827G>T (p.Glu22943Ter)
2g.178530537C>GCA349407082TTN,TTN-AS1c.98374G>C (p.Glu32792Gln)
c.79459G>C (p.Glu26487Gln)
c.79258G>C (p.Glu26420Gln)
c.78883G>C (p.Glu26295Gln)
c.106078G>C (p.Glu35360Gln)
c.101155G>C (p.Glu33719Gln)
n.446+6901C>G
n.220-5195C>G
c.105175G>C (p.Glu35059Gln)
c.79069G>C (p.Glu26357Gln)
c.78928G>C (p.Glu26310Gln)
c.104971G>C (p.Glu34991Gln)
c.100369G>C (p.Glu33457Gln)
c.100366G>C (p.Glu33456Gln)
c.97408G>C (p.Glu32470Gln)
c.79024G>C (p.Glu26342Gln)
c.100519G>C (p.Glu33507Gln)
c.100516G>C (p.Glu33506Gln)
c.99949G>C (p.Glu33317Gln)
c.97291G>C (p.Glu32431Gln)
c.97210G>C (p.Glu32404Gln)
c.78973G>C (p.Glu26325Gln)
c.68827G>C (p.Glu22943Gln)
 ClinVar gnomAD v4
2g.178530537C>TCA349407083TTN,TTN-AS1c.98374G>A (p.Glu32792Lys)
c.79459G>A (p.Glu26487Lys)
c.79258G>A (p.Glu26420Lys)
c.78883G>A (p.Glu26295Lys)
c.106078G>A (p.Glu35360Lys)
c.101155G>A (p.Glu33719Lys)
n.446+6901C>T
n.220-5195C>T
c.105175G>A (p.Glu35059Lys)
c.79069G>A (p.Glu26357Lys)
c.78928G>A (p.Glu26310Lys)
c.104971G>A (p.Glu34991Lys)
c.100369G>A (p.Glu33457Lys)
c.100366G>A (p.Glu33456Lys)
c.97408G>A (p.Glu32470Lys)
c.79024G>A (p.Glu26342Lys)
c.100519G>A (p.Glu33507Lys)
c.100516G>A (p.Glu33506Lys)
c.99949G>A (p.Glu33317Lys)
c.97291G>A (p.Glu32431Lys)
c.97210G>A (p.Glu32404Lys)
c.78973G>A (p.Glu26325Lys)
c.68827G>A (p.Glu22943Lys)
2g.178530537_178530541delinsCACAACA1310514723TTN,TTN-AS1c.98370_98374delinsTTGTG (p.Val32790=)
c.79455_79459delinsTTGTG (p.Val26485=)
c.79254_79258delinsTTGTG (p.Val26418=)
c.78879_78883delinsTTGTG (p.Val26293=)
c.106074_106078delinsTTGTG (p.Val35358=)
c.101151_101155delinsTTGTG (p.Val33717=)
n.446+6901_446+6905delinsCACAA
n.220-5195_220-5191delinsCACAA
c.105171_105175delinsTTGTG (p.Val35057=)
c.79065_79069delinsTTGTG (p.Val26355=)
c.78924_78928delinsTTGTG (p.Val26308=)
c.104967_104971delinsTTGTG (p.Val34989=)
c.100365_100369delinsTTGTG (p.Val33455=)
c.100362_100366delinsTTGTG (p.Val33454=)
c.97404_97408delinsTTGTG (p.Val32468=)
c.79020_79024delinsTTGTG (p.Val26340=)
c.100515_100519delinsTTGTG (p.Val33505=)
c.100512_100516delinsTTGTG (p.Val33504=)
c.99945_99949delinsTTGTG (p.Val33315=)
c.97287_97291delinsTTGTG (p.Val32429=)
c.97206_97210delinsTTGTG (p.Val32402=)
c.78969_78973delinsTTGTG (p.Val26323=)
c.68823_68827delinsTTGTG (p.Val22941=)
2g.178530538A>CCA349407084TTN,TTN-AS1c.98373T>G (p.Cys32791Trp)
c.79458T>G (p.Cys26486Trp)
c.79257T>G (p.Cys26419Trp)
c.78882T>G (p.Cys26294Trp)
c.106077T>G (p.Cys35359Trp)
c.101154T>G (p.Cys33718Trp)
n.446+6902A>C
n.220-5194A>C
c.105174T>G (p.Cys35058Trp)
c.79068T>G (p.Cys26356Trp)
c.78927T>G (p.Cys26309Trp)
c.104970T>G (p.Cys34990Trp)
c.100368T>G (p.Cys33456Trp)
c.100365T>G (p.Cys33455Trp)
c.97407T>G (p.Cys32469Trp)
c.79023T>G (p.Cys26341Trp)
c.100518T>G (p.Cys33506Trp)
c.100515T>G (p.Cys33505Trp)
c.99948T>G (p.Cys33316Trp)
c.97290T>G (p.Cys32430Trp)
c.97209T>G (p.Cys32403Trp)
c.78972T>G (p.Cys26324Trp)
c.68826T>G (p.Cys22942Trp)
 gnomAD v4
2g.178530538A>GCA430235168TTN,TTN-AS1c.98373T>C (p.Cys32791=)
c.79458T>C (p.Cys26486=)
c.79257T>C (p.Cys26419=)
c.78882T>C (p.Cys26294=)
c.106077T>C (p.Cys35359=)
c.101154T>C (p.Cys33718=)
n.446+6902A>G
n.220-5194A>G
c.105174T>C (p.Cys35058=)
c.79068T>C (p.Cys26356=)
c.78927T>C (p.Cys26309=)
c.104970T>C (p.Cys34990=)
c.100368T>C (p.Cys33456=)
c.100365T>C (p.Cys33455=)
c.97407T>C (p.Cys32469=)
c.79023T>C (p.Cys26341=)
c.100518T>C (p.Cys33506=)
c.100515T>C (p.Cys33505=)
c.99948T>C (p.Cys33316=)
c.97290T>C (p.Cys32430=)
c.97209T>C (p.Cys32403=)
c.78972T>C (p.Cys26324=)
c.68826T>C (p.Cys22942=)
2g.178530538A>TCA349407085TTN,TTN-AS1c.98373T>A (p.Cys32791Ter)
c.79458T>A (p.Cys26486Ter)
c.79257T>A (p.Cys26419Ter)
c.78882T>A (p.Cys26294Ter)
c.106077T>A (p.Cys35359Ter)
c.101154T>A (p.Cys33718Ter)
n.446+6902A>T
n.220-5194A>T
c.105174T>A (p.Cys35058Ter)
c.79068T>A (p.Cys26356Ter)
c.78927T>A (p.Cys26309Ter)
c.104970T>A (p.Cys34990Ter)
c.100368T>A (p.Cys33456Ter)
c.100365T>A (p.Cys33455Ter)
c.97407T>A (p.Cys32469Ter)
c.79023T>A (p.Cys26341Ter)
c.100518T>A (p.Cys33506Ter)
c.100515T>A (p.Cys33505Ter)
c.99948T>A (p.Cys33316Ter)
c.97290T>A (p.Cys32430Ter)
c.97209T>A (p.Cys32403Ter)
c.78972T>A (p.Cys26324Ter)
c.68826T>A (p.Cys22942Ter)
2g.178530541_178530544delCA538434968TTN,TTN-AS1c.98370_98373del (p.Cys32791ArgfsTer?)
c.79455_79458del (p.Cys26486ArgfsTer?)
c.79254_79257del (p.Cys26419ArgfsTer?)
c.78879_78882del (p.Cys26294ArgfsTer?)
c.106074_106077del (p.Cys35359ArgfsTer?)
c.101151_101154del (p.Cys33718ArgfsTer?)
n.446+6905_446+6908del
n.220-5191_220-5188del
c.105171_105174del (p.Cys35058ArgfsTer?)
c.79065_79068del (p.Cys26356ArgfsTer?)
c.78924_78927del (p.Cys26309ArgfsTer?)
c.104967_104970del (p.Cys34990ArgfsTer?)
c.100365_100368del (p.Cys33456ArgfsTer?)
c.100362_100365del (p.Cys33455ArgfsTer?)
c.97404_97407del (p.Cys32469ArgfsTer?)
c.79020_79023del (p.Cys26341ArgfsTer?)
c.100515_100518del (p.Cys33506ArgfsTer?)
c.100512_100515del (p.Cys33505ArgfsTer?)
c.99945_99948del (p.Cys33316ArgfsTer?)
c.97287_97290del (p.Cys32430ArgfsTer?)
c.97206_97209del (p.Cys32403ArgfsTer?)
c.78969_78972del (p.Cys26324ArgfsTer?)
c.68823_68826del (p.Cys22942ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v4
2g.178530539C>ACA349407086TTN,TTN-AS1c.98372G>T (p.Cys32791Phe)
c.79457G>T (p.Cys26486Phe)
c.79256G>T (p.Cys26419Phe)
c.78881G>T (p.Cys26294Phe)
c.106076G>T (p.Cys35359Phe)
c.101153G>T (p.Cys33718Phe)
n.446+6903C>A
n.220-5193C>A
c.105173G>T (p.Cys35058Phe)
c.79067G>T (p.Cys26356Phe)
c.78926G>T (p.Cys26309Phe)
c.104969G>T (p.Cys34990Phe)
c.100367G>T (p.Cys33456Phe)
c.100364G>T (p.Cys33455Phe)
c.97406G>T (p.Cys32469Phe)
c.79022G>T (p.Cys26341Phe)
c.100517G>T (p.Cys33506Phe)
c.100514G>T (p.Cys33505Phe)
c.99947G>T (p.Cys33316Phe)
c.97289G>T (p.Cys32430Phe)
c.97208G>T (p.Cys32403Phe)
c.78971G>T (p.Cys26324Phe)
c.68825G>T (p.Cys22942Phe)
2g.178530539C>GCA349407087TTN,TTN-AS1c.98372G>C (p.Cys32791Ser)
c.79457G>C (p.Cys26486Ser)
c.79256G>C (p.Cys26419Ser)
c.78881G>C (p.Cys26294Ser)
c.106076G>C (p.Cys35359Ser)
c.101153G>C (p.Cys33718Ser)
n.446+6903C>G
n.220-5193C>G
c.105173G>C (p.Cys35058Ser)
c.79067G>C (p.Cys26356Ser)
c.78926G>C (p.Cys26309Ser)
c.104969G>C (p.Cys34990Ser)
c.100367G>C (p.Cys33456Ser)
c.100364G>C (p.Cys33455Ser)
c.97406G>C (p.Cys32469Ser)
c.79022G>C (p.Cys26341Ser)
c.100517G>C (p.Cys33506Ser)
c.100514G>C (p.Cys33505Ser)
c.99947G>C (p.Cys33316Ser)
c.97289G>C (p.Cys32430Ser)
c.97208G>C (p.Cys32403Ser)
c.78971G>C (p.Cys26324Ser)
c.68825G>C (p.Cys22942Ser)
2g.178530539C>TCA349407088TTN,TTN-AS1c.98372G>A (p.Cys32791Tyr)
c.79457G>A (p.Cys26486Tyr)
c.79256G>A (p.Cys26419Tyr)
c.78881G>A (p.Cys26294Tyr)
c.106076G>A (p.Cys35359Tyr)
c.101153G>A (p.Cys33718Tyr)
n.446+6903C>T
n.220-5193C>T
c.105173G>A (p.Cys35058Tyr)
c.79067G>A (p.Cys26356Tyr)
c.78926G>A (p.Cys26309Tyr)
c.104969G>A (p.Cys34990Tyr)
c.100367G>A (p.Cys33456Tyr)
c.100364G>A (p.Cys33455Tyr)
c.97406G>A (p.Cys32469Tyr)
c.79022G>A (p.Cys26341Tyr)
c.100517G>A (p.Cys33506Tyr)
c.100514G>A (p.Cys33505Tyr)
c.99947G>A (p.Cys33316Tyr)
c.97289G>A (p.Cys32430Tyr)
c.97208G>A (p.Cys32403Tyr)
c.78971G>A (p.Cys26324Tyr)
c.68825G>A (p.Cys22942Tyr)
 gnomAD v4
2g.178530540A=CA1310514725TTN,TTN-AS1c.98371T= (p.Cys32791=)
c.79456T= (p.Cys26486=)
c.79255T= (p.Cys26419=)
c.78880T= (p.Cys26294=)
c.106075T= (p.Cys35359=)
c.101152T= (p.Cys33718=)
n.446+6904A=
n.220-5192A=
c.105172T= (p.Cys35058=)
c.79066T= (p.Cys26356=)
c.78925T= (p.Cys26309=)
c.104968T= (p.Cys34990=)
c.100366T= (p.Cys33456=)
c.100363T= (p.Cys33455=)
c.97405T= (p.Cys32469=)
c.79021T= (p.Cys26341=)
c.100516T= (p.Cys33506=)
c.100513T= (p.Cys33505=)
c.99946T= (p.Cys33316=)
c.97288T= (p.Cys32430=)
c.97207T= (p.Cys32403=)
c.78970T= (p.Cys26324=)
c.68824T= (p.Cys22942=)
2g.178530540A>CCA349407089TTN,TTN-AS1c.98371T>G (p.Cys32791Gly)
c.79456T>G (p.Cys26486Gly)
c.79255T>G (p.Cys26419Gly)
c.78880T>G (p.Cys26294Gly)
c.106075T>G (p.Cys35359Gly)
c.101152T>G (p.Cys33718Gly)
n.446+6904A>C
n.220-5192A>C
c.105172T>G (p.Cys35058Gly)
c.79066T>G (p.Cys26356Gly)
c.78925T>G (p.Cys26309Gly)
c.104968T>G (p.Cys34990Gly)
c.100366T>G (p.Cys33456Gly)
c.100363T>G (p.Cys33455Gly)
c.97405T>G (p.Cys32469Gly)
c.79021T>G (p.Cys26341Gly)
c.100516T>G (p.Cys33506Gly)
c.100513T>G (p.Cys33505Gly)
c.99946T>G (p.Cys33316Gly)
c.97288T>G (p.Cys32430Gly)
c.97207T>G (p.Cys32403Gly)
c.78970T>G (p.Cys26324Gly)
c.68824T>G (p.Cys22942Gly)
2g.178530540A>GCA349407091TTN,TTN-AS1c.98371T>C (p.Cys32791Arg)
c.79456T>C (p.Cys26486Arg)
c.79255T>C (p.Cys26419Arg)
c.78880T>C (p.Cys26294Arg)
c.106075T>C (p.Cys35359Arg)
c.101152T>C (p.Cys33718Arg)
n.446+6904A>G
n.220-5192A>G
c.105172T>C (p.Cys35058Arg)
c.79066T>C (p.Cys26356Arg)
c.78925T>C (p.Cys26309Arg)
c.104968T>C (p.Cys34990Arg)
c.100366T>C (p.Cys33456Arg)
c.100363T>C (p.Cys33455Arg)
c.97405T>C (p.Cys32469Arg)
c.79021T>C (p.Cys26341Arg)
c.100516T>C (p.Cys33506Arg)
c.100513T>C (p.Cys33505Arg)
c.99946T>C (p.Cys33316Arg)
c.97288T>C (p.Cys32430Arg)
c.97207T>C (p.Cys32403Arg)
c.78970T>C (p.Cys26324Arg)
c.68824T>C (p.Cys22942Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178530540A>TCA349407090TTN,TTN-AS1c.98371T>A (p.Cys32791Ser)
c.79456T>A (p.Cys26486Ser)
c.79255T>A (p.Cys26419Ser)
c.78880T>A (p.Cys26294Ser)
c.106075T>A (p.Cys35359Ser)
c.101152T>A (p.Cys33718Ser)
n.446+6904A>T
n.220-5192A>T
c.105172T>A (p.Cys35058Ser)
c.79066T>A (p.Cys26356Ser)
c.78925T>A (p.Cys26309Ser)
c.104968T>A (p.Cys34990Ser)
c.100366T>A (p.Cys33456Ser)
c.100363T>A (p.Cys33455Ser)
c.97405T>A (p.Cys32469Ser)
c.79021T>A (p.Cys26341Ser)
c.100516T>A (p.Cys33506Ser)
c.100513T>A (p.Cys33505Ser)
c.99946T>A (p.Cys33316Ser)
c.97288T>A (p.Cys32430Ser)
c.97207T>A (p.Cys32403Ser)
c.78970T>A (p.Cys26324Ser)
c.68824T>A (p.Cys22942Ser)
2g.178530541A=CA1310514727TTN,TTN-AS1c.98370T= (p.Val32790=)
c.79455T= (p.Val26485=)
c.79254T= (p.Val26418=)
c.78879T= (p.Val26293=)
c.106074T= (p.Val35358=)
c.101151T= (p.Val33717=)
n.446+6905A=
n.220-5191A=
c.105171T= (p.Val35057=)
c.79065T= (p.Val26355=)
c.78924T= (p.Val26308=)
c.104967T= (p.Val34989=)
c.100365T= (p.Val33455=)
c.100362T= (p.Val33454=)
c.97404T= (p.Val32468=)
c.79020T= (p.Val26340=)
c.100515T= (p.Val33505=)
c.100512T= (p.Val33504=)
c.99945T= (p.Val33315=)
c.97287T= (p.Val32429=)
c.97206T= (p.Val32402=)
c.78969T= (p.Val26323=)
c.68823T= (p.Val22941=)
2g.178530541A>CCA430235177TTN,TTN-AS1c.98370T>G (p.Val32790=)
c.79455T>G (p.Val26485=)
c.79254T>G (p.Val26418=)
c.78879T>G (p.Val26293=)
c.106074T>G (p.Val35358=)
c.101151T>G (p.Val33717=)
n.446+6905A>C
n.220-5191A>C
c.105171T>G (p.Val35057=)
c.79065T>G (p.Val26355=)
c.78924T>G (p.Val26308=)
c.104967T>G (p.Val34989=)
c.100365T>G (p.Val33455=)
c.100362T>G (p.Val33454=)
c.97404T>G (p.Val32468=)
c.79020T>G (p.Val26340=)
c.100515T>G (p.Val33505=)
c.100512T>G (p.Val33504=)
c.99945T>G (p.Val33315=)
c.97287T>G (p.Val32429=)
c.97206T>G (p.Val32402=)
c.78969T>G (p.Val26323=)
c.68823T>G (p.Val22941=)
2g.178530541A>GCA430235175TTN,TTN-AS1c.98370T>C (p.Val32790=)
c.79455T>C (p.Val26485=)
c.79254T>C (p.Val26418=)
c.78879T>C (p.Val26293=)
c.106074T>C (p.Val35358=)
c.101151T>C (p.Val33717=)
n.446+6905A>G
n.220-5191A>G
c.105171T>C (p.Val35057=)
c.79065T>C (p.Val26355=)
c.78924T>C (p.Val26308=)
c.104967T>C (p.Val34989=)
c.100365T>C (p.Val33455=)
c.100362T>C (p.Val33454=)
c.97404T>C (p.Val32468=)
c.79020T>C (p.Val26340=)
c.100515T>C (p.Val33505=)
c.100512T>C (p.Val33504=)
c.99945T>C (p.Val33315=)
c.97287T>C (p.Val32429=)
c.97206T>C (p.Val32402=)
c.78969T>C (p.Val26323=)
c.68823T>C (p.Val22941=)
 dbSNP
2g.178530541A>TCA430235176TTN,TTN-AS1c.98370T>A (p.Val32790=)
c.79455T>A (p.Val26485=)
c.79254T>A (p.Val26418=)
c.78879T>A (p.Val26293=)
c.106074T>A (p.Val35358=)
c.101151T>A (p.Val33717=)
n.446+6905A>T
n.220-5191A>T
c.105171T>A (p.Val35057=)
c.79065T>A (p.Val26355=)
c.78924T>A (p.Val26308=)
c.104967T>A (p.Val34989=)
c.100365T>A (p.Val33455=)
c.100362T>A (p.Val33454=)
c.97404T>A (p.Val32468=)
c.79020T>A (p.Val26340=)
c.100515T>A (p.Val33505=)
c.100512T>A (p.Val33504=)
c.99945T>A (p.Val33315=)
c.97287T>A (p.Val32429=)
c.97206T>A (p.Val32402=)
c.78969T>A (p.Val26323=)
c.68823T>A (p.Val22941=)
 dbSNP gnomAD v2 gnomAD v4
2g.178530542A=CA1310514730TTN,TTN-AS1c.98369T= (p.Val32790=)
c.79454T= (p.Val26485=)
c.79253T= (p.Val26418=)
c.78878T= (p.Val26293=)
c.106073T= (p.Val35358=)
c.101150T= (p.Val33717=)
n.446+6906A=
n.220-5190A=
c.105170T= (p.Val35057=)
c.79064T= (p.Val26355=)
c.78923T= (p.Val26308=)
c.104966T= (p.Val34989=)
c.100364T= (p.Val33455=)
c.100361T= (p.Val33454=)
c.97403T= (p.Val32468=)
c.79019T= (p.Val26340=)
c.100514T= (p.Val33505=)
c.100511T= (p.Val33504=)
c.99944T= (p.Val33315=)
c.97286T= (p.Val32429=)
c.97205T= (p.Val32402=)
c.78968T= (p.Val26323=)
c.68822T= (p.Val22941=)
2g.178530542A>CCA349407092TTN,TTN-AS1c.98369T>G (p.Val32790Gly)
c.79454T>G (p.Val26485Gly)
c.79253T>G (p.Val26418Gly)
c.78878T>G (p.Val26293Gly)
c.106073T>G (p.Val35358Gly)
c.101150T>G (p.Val33717Gly)
n.446+6906A>C
n.220-5190A>C
c.105170T>G (p.Val35057Gly)
c.79064T>G (p.Val26355Gly)
c.78923T>G (p.Val26308Gly)
c.104966T>G (p.Val34989Gly)
c.100364T>G (p.Val33455Gly)
c.100361T>G (p.Val33454Gly)
c.97403T>G (p.Val32468Gly)
c.79019T>G (p.Val26340Gly)
c.100514T>G (p.Val33505Gly)
c.100511T>G (p.Val33504Gly)
c.99944T>G (p.Val33315Gly)
c.97286T>G (p.Val32429Gly)
c.97205T>G (p.Val32402Gly)
c.78968T>G (p.Val26323Gly)
c.68822T>G (p.Val22941Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.178530542A>GCA349407093TTN,TTN-AS1c.98369T>C (p.Val32790Ala)
c.79454T>C (p.Val26485Ala)
c.79253T>C (p.Val26418Ala)
c.78878T>C (p.Val26293Ala)
c.106073T>C (p.Val35358Ala)
c.101150T>C (p.Val33717Ala)
n.446+6906A>G
n.220-5190A>G
c.105170T>C (p.Val35057Ala)
c.79064T>C (p.Val26355Ala)
c.78923T>C (p.Val26308Ala)
c.104966T>C (p.Val34989Ala)
c.100364T>C (p.Val33455Ala)
c.100361T>C (p.Val33454Ala)
c.97403T>C (p.Val32468Ala)
c.79019T>C (p.Val26340Ala)
c.100514T>C (p.Val33505Ala)
c.100511T>C (p.Val33504Ala)
c.99944T>C (p.Val33315Ala)
c.97286T>C (p.Val32429Ala)
c.97205T>C (p.Val32402Ala)
c.78968T>C (p.Val26323Ala)
c.68822T>C (p.Val22941Ala)
2g.178530542A>TCA349407094TTN,TTN-AS1c.98369T>A (p.Val32790Asp)
c.79454T>A (p.Val26485Asp)
c.79253T>A (p.Val26418Asp)
c.78878T>A (p.Val26293Asp)
c.106073T>A (p.Val35358Asp)
c.101150T>A (p.Val33717Asp)
n.446+6906A>T
n.220-5190A>T
c.105170T>A (p.Val35057Asp)
c.79064T>A (p.Val26355Asp)
c.78923T>A (p.Val26308Asp)
c.104966T>A (p.Val34989Asp)
c.100364T>A (p.Val33455Asp)
c.100361T>A (p.Val33454Asp)
c.97403T>A (p.Val32468Asp)
c.79019T>A (p.Val26340Asp)
c.100514T>A (p.Val33505Asp)
c.100511T>A (p.Val33504Asp)
c.99944T>A (p.Val33315Asp)
c.97286T>A (p.Val32429Asp)
c.97205T>A (p.Val32402Asp)
c.78968T>A (p.Val26323Asp)
c.68822T>A (p.Val22941Asp)
 ClinVar dbSNP gnomAD v4
2g.178530543C>ACA349407095TTN,TTN-AS1c.98368G>T (p.Val32790Phe)
c.79453G>T (p.Val26485Phe)
c.79252G>T (p.Val26418Phe)
c.78877G>T (p.Val26293Phe)
c.106072G>T (p.Val35358Phe)
c.101149G>T (p.Val33717Phe)
n.446+6907C>A
n.220-5189C>A
c.105169G>T (p.Val35057Phe)
c.79063G>T (p.Val26355Phe)
c.78922G>T (p.Val26308Phe)
c.104965G>T (p.Val34989Phe)
c.100363G>T (p.Val33455Phe)
c.100360G>T (p.Val33454Phe)
c.97402G>T (p.Val32468Phe)
c.79018G>T (p.Val26340Phe)
c.100513G>T (p.Val33505Phe)
c.100510G>T (p.Val33504Phe)
c.99943G>T (p.Val33315Phe)
c.97285G>T (p.Val32429Phe)
c.97204G>T (p.Val32402Phe)
c.78967G>T (p.Val26323Phe)
c.68821G>T (p.Val22941Phe)
2g.178530543C>GCA349407096TTN,TTN-AS1c.98368G>C (p.Val32790Leu)
c.79453G>C (p.Val26485Leu)
c.79252G>C (p.Val26418Leu)
c.78877G>C (p.Val26293Leu)
c.106072G>C (p.Val35358Leu)
c.101149G>C (p.Val33717Leu)
n.446+6907C>G
n.220-5189C>G
c.105169G>C (p.Val35057Leu)
c.79063G>C (p.Val26355Leu)
c.78922G>C (p.Val26308Leu)
c.104965G>C (p.Val34989Leu)
c.100363G>C (p.Val33455Leu)
c.100360G>C (p.Val33454Leu)
c.97402G>C (p.Val32468Leu)
c.79018G>C (p.Val26340Leu)
c.100513G>C (p.Val33505Leu)
c.100510G>C (p.Val33504Leu)
c.99943G>C (p.Val33315Leu)
c.97285G>C (p.Val32429Leu)
c.97204G>C (p.Val32402Leu)
c.78967G>C (p.Val26323Leu)
c.68821G>C (p.Val22941Leu)
2g.178530543C>TCA349407097TTN,TTN-AS1c.98368G>A (p.Val32790Ile)
c.79453G>A (p.Val26485Ile)
c.79252G>A (p.Val26418Ile)
c.78877G>A (p.Val26293Ile)
c.106072G>A (p.Val35358Ile)
c.101149G>A (p.Val33717Ile)
n.446+6907C>T
n.220-5189C>T
c.105169G>A (p.Val35057Ile)
c.79063G>A (p.Val26355Ile)
c.78922G>A (p.Val26308Ile)
c.104965G>A (p.Val34989Ile)
c.100363G>A (p.Val33455Ile)
c.100360G>A (p.Val33454Ile)
c.97402G>A (p.Val32468Ile)
c.79018G>A (p.Val26340Ile)
c.100513G>A (p.Val33505Ile)
c.100510G>A (p.Val33504Ile)
c.99943G>A (p.Val33315Ile)
c.97285G>A (p.Val32429Ile)
c.97204G>A (p.Val32402Ile)
c.78967G>A (p.Val26323Ile)
c.68821G>A (p.Val22941Ile)
 ClinVar dbSNP
2g.178530544A>CCA349407098TTN,TTN-AS1c.98367T>G (p.Tyr32789Ter)
c.79452T>G (p.Tyr26484Ter)
c.79251T>G (p.Tyr26417Ter)
c.78876T>G (p.Tyr26292Ter)
c.106071T>G (p.Tyr35357Ter)
c.101148T>G (p.Tyr33716Ter)
n.446+6908A>C
n.220-5188A>C
c.105168T>G (p.Tyr35056Ter)
c.79062T>G (p.Tyr26354Ter)
c.78921T>G (p.Tyr26307Ter)
c.104964T>G (p.Tyr34988Ter)
c.100362T>G (p.Tyr33454Ter)
c.100359T>G (p.Tyr33453Ter)
c.97401T>G (p.Tyr32467Ter)
c.79017T>G (p.Tyr26339Ter)
c.100512T>G (p.Tyr33504Ter)
c.100509T>G (p.Tyr33503Ter)
c.99942T>G (p.Tyr33314Ter)
c.97284T>G (p.Tyr32428Ter)
c.97203T>G (p.Tyr32401Ter)
c.78966T>G (p.Tyr26322Ter)
c.68820T>G (p.Tyr22940Ter)
2g.178530544A>GCA430235182TTN,TTN-AS1c.98367T>C (p.Tyr32789=)
c.79452T>C (p.Tyr26484=)
c.79251T>C (p.Tyr26417=)
c.78876T>C (p.Tyr26292=)
c.106071T>C (p.Tyr35357=)
c.101148T>C (p.Tyr33716=)
n.446+6908A>G
n.220-5188A>G
c.105168T>C (p.Tyr35056=)
c.79062T>C (p.Tyr26354=)
c.78921T>C (p.Tyr26307=)
c.104964T>C (p.Tyr34988=)
c.100362T>C (p.Tyr33454=)
c.100359T>C (p.Tyr33453=)
c.97401T>C (p.Tyr32467=)
c.79017T>C (p.Tyr26339=)
c.100512T>C (p.Tyr33504=)
c.100509T>C (p.Tyr33503=)
c.99942T>C (p.Tyr33314=)
c.97284T>C (p.Tyr32428=)
c.97203T>C (p.Tyr32401=)
c.78966T>C (p.Tyr26322=)
c.68820T>C (p.Tyr22940=)
 dbSNP gnomAD v4
2g.178530544A>TCA349407099TTN,TTN-AS1c.98367T>A (p.Tyr32789Ter)
c.79452T>A (p.Tyr26484Ter)
c.79251T>A (p.Tyr26417Ter)
c.78876T>A (p.Tyr26292Ter)
c.106071T>A (p.Tyr35357Ter)
c.101148T>A (p.Tyr33716Ter)
n.446+6908A>T
n.220-5188A>T
c.105168T>A (p.Tyr35056Ter)
c.79062T>A (p.Tyr26354Ter)
c.78921T>A (p.Tyr26307Ter)
c.104964T>A (p.Tyr34988Ter)
c.100362T>A (p.Tyr33454Ter)
c.100359T>A (p.Tyr33453Ter)
c.97401T>A (p.Tyr32467Ter)
c.79017T>A (p.Tyr26339Ter)
c.100512T>A (p.Tyr33504Ter)
c.100509T>A (p.Tyr33503Ter)
c.99942T>A (p.Tyr33314Ter)
c.97284T>A (p.Tyr32428Ter)
c.97203T>A (p.Tyr32401Ter)
c.78966T>A (p.Tyr26322Ter)
c.68820T>A (p.Tyr22940Ter)
2g.178530546_178530547delCA2831039924TTN,TTN-AS1c.98366_98367del (p.Tyr32789CysfsTer3)
c.79451_79452del (p.Tyr26484CysfsTer3)
c.79250_79251del (p.Tyr26417CysfsTer3)
c.78875_78876del (p.Tyr26292CysfsTer3)
c.106070_106071del (p.Tyr35357CysfsTer3)
c.101147_101148del (p.Tyr33716CysfsTer3)
n.446+6910_446+6911del
n.220-5186_220-5185del
c.105167_105168del (p.Tyr35056CysfsTer3)
c.79061_79062del (p.Tyr26354CysfsTer3)
c.78920_78921del (p.Tyr26307CysfsTer3)
c.104963_104964del (p.Tyr34988CysfsTer3)
c.100361_100362del (p.Tyr33454CysfsTer3)
c.100358_100359del (p.Tyr33453CysfsTer3)
c.97400_97401del (p.Tyr32467CysfsTer3)
c.79016_79017del (p.Tyr26339CysfsTer3)
c.100511_100512del (p.Tyr33504CysfsTer3)
c.100508_100509del (p.Tyr33503CysfsTer3)
c.99941_99942del (p.Tyr33314CysfsTer3)
c.97283_97284del (p.Tyr32428CysfsTer3)
c.97202_97203del (p.Tyr32401CysfsTer3)
c.78965_78966del (p.Tyr26322CysfsTer3)
c.68819_68820del (p.Tyr22940CysfsTer3)
2g.178530545T>ACA349407100TTN,TTN-AS1c.98366A>T (p.Tyr32789Phe)
c.79451A>T (p.Tyr26484Phe)
c.79250A>T (p.Tyr26417Phe)
c.78875A>T (p.Tyr26292Phe)
c.106070A>T (p.Tyr35357Phe)
c.101147A>T (p.Tyr33716Phe)
n.446+6909T>A
n.220-5187T>A
c.105167A>T (p.Tyr35056Phe)
c.79061A>T (p.Tyr26354Phe)
c.78920A>T (p.Tyr26307Phe)
c.104963A>T (p.Tyr34988Phe)
c.100361A>T (p.Tyr33454Phe)
c.100358A>T (p.Tyr33453Phe)
c.97400A>T (p.Tyr32467Phe)
c.79016A>T (p.Tyr26339Phe)
c.100511A>T (p.Tyr33504Phe)
c.100508A>T (p.Tyr33503Phe)
c.99941A>T (p.Tyr33314Phe)
c.97283A>T (p.Tyr32428Phe)
c.97202A>T (p.Tyr32401Phe)
c.78965A>T (p.Tyr26322Phe)
c.68819A>T (p.Tyr22940Phe)
2g.178530545T>CCA349407101TTN,TTN-AS1c.98366A>G (p.Tyr32789Cys)
c.79451A>G (p.Tyr26484Cys)
c.79250A>G (p.Tyr26417Cys)
c.78875A>G (p.Tyr26292Cys)
c.106070A>G (p.Tyr35357Cys)
c.101147A>G (p.Tyr33716Cys)
n.446+6909T>C
n.220-5187T>C
c.105167A>G (p.Tyr35056Cys)
c.79061A>G (p.Tyr26354Cys)
c.78920A>G (p.Tyr26307Cys)
c.104963A>G (p.Tyr34988Cys)
c.100361A>G (p.Tyr33454Cys)
c.100358A>G (p.Tyr33453Cys)
c.97400A>G (p.Tyr32467Cys)
c.79016A>G (p.Tyr26339Cys)
c.100511A>G (p.Tyr33504Cys)
c.100508A>G (p.Tyr33503Cys)
c.99941A>G (p.Tyr33314Cys)
c.97283A>G (p.Tyr32428Cys)
c.97202A>G (p.Tyr32401Cys)
c.78965A>G (p.Tyr26322Cys)
c.68819A>G (p.Tyr22940Cys)
2g.178530545T>GCA349407102TTN,TTN-AS1c.98366A>C (p.Tyr32789Ser)
c.79451A>C (p.Tyr26484Ser)
c.79250A>C (p.Tyr26417Ser)
c.78875A>C (p.Tyr26292Ser)
c.106070A>C (p.Tyr35357Ser)
c.101147A>C (p.Tyr33716Ser)
n.446+6909T>G
n.220-5187T>G
c.105167A>C (p.Tyr35056Ser)
c.79061A>C (p.Tyr26354Ser)
c.78920A>C (p.Tyr26307Ser)
c.104963A>C (p.Tyr34988Ser)
c.100361A>C (p.Tyr33454Ser)
c.100358A>C (p.Tyr33453Ser)
c.97400A>C (p.Tyr32467Ser)
c.79016A>C (p.Tyr26339Ser)
c.100511A>C (p.Tyr33504Ser)
c.100508A>C (p.Tyr33503Ser)
c.99941A>C (p.Tyr33314Ser)
c.97283A>C (p.Tyr32428Ser)
c.97202A>C (p.Tyr32401Ser)
c.78965A>C (p.Tyr26322Ser)
c.68819A>C (p.Tyr22940Ser)
 ClinVar
2g.178530546A=CA1310514732TTN,TTN-AS1c.98365T= (p.Tyr32789=)
c.79450T= (p.Tyr26484=)
c.79249T= (p.Tyr26417=)
c.78874T= (p.Tyr26292=)
c.106069T= (p.Tyr35357=)
c.101146T= (p.Tyr33716=)
n.446+6910A=
n.220-5186A=
c.105166T= (p.Tyr35056=)
c.79060T= (p.Tyr26354=)
c.78919T= (p.Tyr26307=)
c.104962T= (p.Tyr34988=)
c.100360T= (p.Tyr33454=)
c.100357T= (p.Tyr33453=)
c.97399T= (p.Tyr32467=)
c.79015T= (p.Tyr26339=)
c.100510T= (p.Tyr33504=)
c.100507T= (p.Tyr33503=)
c.99940T= (p.Tyr33314=)
c.97282T= (p.Tyr32428=)
c.97201T= (p.Tyr32401=)
c.78964T= (p.Tyr26322=)
c.68818T= (p.Tyr22940=)
2g.178530546A>CCA349407104TTN,TTN-AS1c.98365T>G (p.Tyr32789Asp)
c.79450T>G (p.Tyr26484Asp)
c.79249T>G (p.Tyr26417Asp)
c.78874T>G (p.Tyr26292Asp)
c.106069T>G (p.Tyr35357Asp)
c.101146T>G (p.Tyr33716Asp)
n.446+6910A>C
n.220-5186A>C
c.105166T>G (p.Tyr35056Asp)
c.79060T>G (p.Tyr26354Asp)
c.78919T>G (p.Tyr26307Asp)
c.104962T>G (p.Tyr34988Asp)
c.100360T>G (p.Tyr33454Asp)
c.100357T>G (p.Tyr33453Asp)
c.97399T>G (p.Tyr32467Asp)
c.79015T>G (p.Tyr26339Asp)
c.100510T>G (p.Tyr33504Asp)
c.100507T>G (p.Tyr33503Asp)
c.99940T>G (p.Tyr33314Asp)
c.97282T>G (p.Tyr32428Asp)
c.97201T>G (p.Tyr32401Asp)
c.78964T>G (p.Tyr26322Asp)
c.68818T>G (p.Tyr22940Asp)
2g.178530546A>GCA349407105TTN,TTN-AS1c.98365T>C (p.Tyr32789His)
c.79450T>C (p.Tyr26484His)
c.79249T>C (p.Tyr26417His)
c.78874T>C (p.Tyr26292His)
c.106069T>C (p.Tyr35357His)
c.101146T>C (p.Tyr33716His)
n.446+6910A>G
n.220-5186A>G
c.105166T>C (p.Tyr35056His)
c.79060T>C (p.Tyr26354His)
c.78919T>C (p.Tyr26307His)
c.104962T>C (p.Tyr34988His)
c.100360T>C (p.Tyr33454His)
c.100357T>C (p.Tyr33453His)
c.97399T>C (p.Tyr32467His)
c.79015T>C (p.Tyr26339His)
c.100510T>C (p.Tyr33504His)
c.100507T>C (p.Tyr33503His)
c.99940T>C (p.Tyr33314His)
c.97282T>C (p.Tyr32428His)
c.97201T>C (p.Tyr32401His)
c.78964T>C (p.Tyr26322His)
c.68818T>C (p.Tyr22940His)
 dbSNP gnomAD v3 gnomAD v4
2g.178530546A>TCA349407103TTN,TTN-AS1c.98365T>A (p.Tyr32789Asn)
c.79450T>A (p.Tyr26484Asn)
c.79249T>A (p.Tyr26417Asn)
c.78874T>A (p.Tyr26292Asn)
c.106069T>A (p.Tyr35357Asn)
c.101146T>A (p.Tyr33716Asn)
n.446+6910A>T
n.220-5186A>T
c.105166T>A (p.Tyr35056Asn)
c.79060T>A (p.Tyr26354Asn)
c.78919T>A (p.Tyr26307Asn)
c.104962T>A (p.Tyr34988Asn)
c.100360T>A (p.Tyr33454Asn)
c.100357T>A (p.Tyr33453Asn)
c.97399T>A (p.Tyr32467Asn)
c.79015T>A (p.Tyr26339Asn)
c.100510T>A (p.Tyr33504Asn)
c.100507T>A (p.Tyr33503Asn)
c.99940T>A (p.Tyr33314Asn)
c.97282T>A (p.Tyr32428Asn)
c.97201T>A (p.Tyr32401Asn)
c.78964T>A (p.Tyr26322Asn)
c.68818T>A (p.Tyr22940Asn)
2g.178530547T>ACA349407107TTN,TTN-AS1c.98364A>T (p.Glu32788Asp)
c.79449A>T (p.Glu26483Asp)
c.79248A>T (p.Glu26416Asp)
c.78873A>T (p.Glu26291Asp)
c.106068A>T (p.Glu35356Asp)
c.101145A>T (p.Glu33715Asp)
n.446+6911T>A
n.220-5185T>A
c.105165A>T (p.Glu35055Asp)
c.79059A>T (p.Glu26353Asp)
c.78918A>T (p.Glu26306Asp)
c.104961A>T (p.Glu34987Asp)
c.100359A>T (p.Glu33453Asp)
c.100356A>T (p.Glu33452Asp)
c.97398A>T (p.Glu32466Asp)
c.79014A>T (p.Glu26338Asp)
c.100509A>T (p.Glu33503Asp)
c.100506A>T (p.Glu33502Asp)
c.99939A>T (p.Glu33313Asp)
c.97281A>T (p.Glu32427Asp)
c.97200A>T (p.Glu32400Asp)
c.78963A>T (p.Glu26321Asp)
c.68817A>T (p.Glu22939Asp)
2g.178530547T>CCA430235188TTN,TTN-AS1c.98364A>G (p.Glu32788=)
c.79449A>G (p.Glu26483=)
c.79248A>G (p.Glu26416=)
c.78873A>G (p.Glu26291=)
c.106068A>G (p.Glu35356=)
c.101145A>G (p.Glu33715=)
n.446+6911T>C
n.220-5185T>C
c.105165A>G (p.Glu35055=)
c.79059A>G (p.Glu26353=)
c.78918A>G (p.Glu26306=)
c.104961A>G (p.Glu34987=)
c.100359A>G (p.Glu33453=)
c.100356A>G (p.Glu33452=)
c.97398A>G (p.Glu32466=)
c.79014A>G (p.Glu26338=)
c.100509A>G (p.Glu33503=)
c.100506A>G (p.Glu33502=)
c.99939A>G (p.Glu33313=)
c.97281A>G (p.Glu32427=)
c.97200A>G (p.Glu32400=)
c.78963A>G (p.Glu26321=)
c.68817A>G (p.Glu22939=)
 gnomAD v4
2g.178530547T>GCA349407106TTN,TTN-AS1c.98364A>C (p.Glu32788Asp)
c.79449A>C (p.Glu26483Asp)
c.79248A>C (p.Glu26416Asp)
c.78873A>C (p.Glu26291Asp)
c.106068A>C (p.Glu35356Asp)
c.101145A>C (p.Glu33715Asp)
n.446+6911T>G
n.220-5185T>G
c.105165A>C (p.Glu35055Asp)
c.79059A>C (p.Glu26353Asp)
c.78918A>C (p.Glu26306Asp)
c.104961A>C (p.Glu34987Asp)
c.100359A>C (p.Glu33453Asp)
c.100356A>C (p.Glu33452Asp)
c.97398A>C (p.Glu32466Asp)
c.79014A>C (p.Glu26338Asp)
c.100509A>C (p.Glu33503Asp)
c.100506A>C (p.Glu33502Asp)
c.99939A>C (p.Glu33313Asp)
c.97281A>C (p.Glu32427Asp)
c.97200A>C (p.Glu32400Asp)
c.78963A>C (p.Glu26321Asp)
c.68817A>C (p.Glu22939Asp)
 gnomAD v4
2g.178530548T>ACA349407110TTN,TTN-AS1c.98363A>T (p.Glu32788Val)
c.79448A>T (p.Glu26483Val)
c.79247A>T (p.Glu26416Val)
c.78872A>T (p.Glu26291Val)
c.106067A>T (p.Glu35356Val)
c.101144A>T (p.Glu33715Val)
n.446+6912T>A
n.220-5184T>A
c.105164A>T (p.Glu35055Val)
c.79058A>T (p.Glu26353Val)
c.78917A>T (p.Glu26306Val)
c.104960A>T (p.Glu34987Val)
c.100358A>T (p.Glu33453Val)
c.100355A>T (p.Glu33452Val)
c.97397A>T (p.Glu32466Val)
c.79013A>T (p.Glu26338Val)
c.100508A>T (p.Glu33503Val)
c.100505A>T (p.Glu33502Val)
c.99938A>T (p.Glu33313Val)
c.97280A>T (p.Glu32427Val)
c.97199A>T (p.Glu32400Val)
c.78962A>T (p.Glu26321Val)
c.68816A>T (p.Glu22939Val)
2g.178530548T>CCA349407108TTN,TTN-AS1c.98363A>G (p.Glu32788Gly)
c.79448A>G (p.Glu26483Gly)
c.79247A>G (p.Glu26416Gly)
c.78872A>G (p.Glu26291Gly)
c.106067A>G (p.Glu35356Gly)
c.101144A>G (p.Glu33715Gly)
n.446+6912T>C
n.220-5184T>C
c.105164A>G (p.Glu35055Gly)
c.79058A>G (p.Glu26353Gly)
c.78917A>G (p.Glu26306Gly)
c.104960A>G (p.Glu34987Gly)
c.100358A>G (p.Glu33453Gly)
c.100355A>G (p.Glu33452Gly)
c.97397A>G (p.Glu32466Gly)
c.79013A>G (p.Glu26338Gly)
c.100508A>G (p.Glu33503Gly)
c.100505A>G (p.Glu33502Gly)
c.99938A>G (p.Glu33313Gly)
c.97280A>G (p.Glu32427Gly)
c.97199A>G (p.Glu32400Gly)
c.78962A>G (p.Glu26321Gly)
c.68816A>G (p.Glu22939Gly)
2g.178530548T>GCA349407109TTN,TTN-AS1c.98363A>C (p.Glu32788Ala)
c.79448A>C (p.Glu26483Ala)
c.79247A>C (p.Glu26416Ala)
c.78872A>C (p.Glu26291Ala)
c.106067A>C (p.Glu35356Ala)
c.101144A>C (p.Glu33715Ala)
n.446+6912T>G
n.220-5184T>G
c.105164A>C (p.Glu35055Ala)
c.79058A>C (p.Glu26353Ala)
c.78917A>C (p.Glu26306Ala)
c.104960A>C (p.Glu34987Ala)
c.100358A>C (p.Glu33453Ala)
c.100355A>C (p.Glu33452Ala)
c.97397A>C (p.Glu32466Ala)
c.79013A>C (p.Glu26338Ala)
c.100508A>C (p.Glu33503Ala)
c.100505A>C (p.Glu33502Ala)
c.99938A>C (p.Glu33313Ala)
c.97280A>C (p.Glu32427Ala)
c.97199A>C (p.Glu32400Ala)
c.78962A>C (p.Glu26321Ala)
c.68816A>C (p.Glu22939Ala)
2g.178530548_178530551delinsTCTCCA1310514734TTN,TTN-AS1c.98360_98363delinsGAGA (p.Gly32787=)
c.79445_79448delinsGAGA (p.Gly26482=)
c.79244_79247delinsGAGA (p.Gly26415=)
c.78869_78872delinsGAGA (p.Gly26290=)
c.106064_106067delinsGAGA (p.Gly35355=)
c.101141_101144delinsGAGA (p.Gly33714=)
n.446+6912_446+6915delinsTCTC
n.220-5184_220-5181delinsTCTC
c.105161_105164delinsGAGA (p.Gly35054=)
c.79055_79058delinsGAGA (p.Gly26352=)
c.78914_78917delinsGAGA (p.Gly26305=)
c.104957_104960delinsGAGA (p.Gly34986=)
c.100355_100358delinsGAGA (p.Gly33452=)
c.100352_100355delinsGAGA (p.Gly33451=)
c.97394_97397delinsGAGA (p.Gly32465=)
c.79010_79013delinsGAGA (p.Gly26337=)
c.100505_100508delinsGAGA (p.Gly33502=)
c.100502_100505delinsGAGA (p.Gly33501=)
c.99935_99938delinsGAGA (p.Gly33312=)
c.97277_97280delinsGAGA (p.Gly32426=)
c.97196_97199delinsGAGA (p.Gly32399=)
c.78959_78962delinsGAGA (p.Gly26320=)
c.68813_68816delinsGAGA (p.Gly22938=)
2g.178530549C>ACA349407111TTN,TTN-AS1c.98362G>T (p.Glu32788Ter)
c.79447G>T (p.Glu26483Ter)
c.79246G>T (p.Glu26416Ter)
c.78871G>T (p.Glu26291Ter)
c.106066G>T (p.Glu35356Ter)
c.101143G>T (p.Glu33715Ter)
n.446+6913C>A
n.220-5183C>A
c.105163G>T (p.Glu35055Ter)
c.79057G>T (p.Glu26353Ter)
c.78916G>T (p.Glu26306Ter)
c.104959G>T (p.Glu34987Ter)
c.100357G>T (p.Glu33453Ter)
c.100354G>T (p.Glu33452Ter)
c.97396G>T (p.Glu32466Ter)
c.79012G>T (p.Glu26338Ter)
c.100507G>T (p.Glu33503Ter)
c.100504G>T (p.Glu33502Ter)
c.99937G>T (p.Glu33313Ter)
c.97279G>T (p.Glu32427Ter)
c.97198G>T (p.Glu32400Ter)
c.78961G>T (p.Glu26321Ter)
c.68815G>T (p.Glu22939Ter)
2g.178530549C=CA1310514736TTN,TTN-AS1c.98362G= (p.Glu32788=)
c.79447G= (p.Glu26483=)
c.79246G= (p.Glu26416=)
c.78871G= (p.Glu26291=)
c.106066G= (p.Glu35356=)
c.101143G= (p.Glu33715=)
n.446+6913C=
n.220-5183C=
c.105163G= (p.Glu35055=)
c.79057G= (p.Glu26353=)
c.78916G= (p.Glu26306=)
c.104959G= (p.Glu34987=)
c.100357G= (p.Glu33453=)
c.100354G= (p.Glu33452=)
c.97396G= (p.Glu32466=)
c.79012G= (p.Glu26338=)
c.100507G= (p.Glu33503=)
c.100504G= (p.Glu33502=)
c.99937G= (p.Glu33313=)
c.97279G= (p.Glu32427=)
c.97198G= (p.Glu32400=)
c.78961G= (p.Glu26321=)
c.68815G= (p.Glu22939=)
2g.178530549C>GCA349407112TTN,TTN-AS1c.98362G>C (p.Glu32788Gln)
c.79447G>C (p.Glu26483Gln)
c.79246G>C (p.Glu26416Gln)
c.78871G>C (p.Glu26291Gln)
c.106066G>C (p.Glu35356Gln)
c.101143G>C (p.Glu33715Gln)
n.446+6913C>G
n.220-5183C>G
c.105163G>C (p.Glu35055Gln)
c.79057G>C (p.Glu26353Gln)
c.78916G>C (p.Glu26306Gln)
c.104959G>C (p.Glu34987Gln)
c.100357G>C (p.Glu33453Gln)
c.100354G>C (p.Glu33452Gln)
c.97396G>C (p.Glu32466Gln)
c.79012G>C (p.Glu26338Gln)
c.100507G>C (p.Glu33503Gln)
c.100504G>C (p.Glu33502Gln)
c.99937G>C (p.Glu33313Gln)
c.97279G>C (p.Glu32427Gln)
c.97198G>C (p.Glu32400Gln)
c.78961G>C (p.Glu26321Gln)
c.68815G>C (p.Glu22939Gln)
2g.178530549C>TCA10611592TTN,TTN-AS1c.98362G>A (p.Glu32788Lys)
c.79447G>A (p.Glu26483Lys)
c.79246G>A (p.Glu26416Lys)
c.78871G>A (p.Glu26291Lys)
c.106066G>A (p.Glu35356Lys)
c.101143G>A (p.Glu33715Lys)
n.446+6913C>T
n.220-5183C>T
c.105163G>A (p.Glu35055Lys)
c.79057G>A (p.Glu26353Lys)
c.78916G>A (p.Glu26306Lys)
c.104959G>A (p.Glu34987Lys)
c.100357G>A (p.Glu33453Lys)
c.100354G>A (p.Glu33452Lys)
c.97396G>A (p.Glu32466Lys)
c.79012G>A (p.Glu26338Lys)
c.100507G>A (p.Glu33503Lys)
c.100504G>A (p.Glu33502Lys)
c.99937G>A (p.Glu33313Lys)
c.97279G>A (p.Glu32427Lys)
c.97198G>A (p.Glu32400Lys)
c.78961G>A (p.Glu26321Lys)
c.68815G>A (p.Glu22939Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178530551_178530553delCA1310514737TTN,TTN-AS1c.98360_98362del (p.Gly32787del)
c.79445_79447del (p.Gly26482del)
c.79244_79246del (p.Gly26415del)
c.78869_78871del (p.Gly26290del)
c.106064_106066del (p.Gly35355del)
c.101141_101143del (p.Gly33714del)
n.446+6915_446+6917del
n.220-5181_220-5179del
c.105161_105163del (p.Gly35054del)
c.79055_79057del (p.Gly26352del)
c.78914_78916del (p.Gly26305del)
c.104957_104959del (p.Gly34986del)
c.100355_100357del (p.Gly33452del)
c.100352_100354del (p.Gly33451del)
c.97394_97396del (p.Gly32465del)
c.79010_79012del (p.Gly26337del)
c.100505_100507del (p.Gly33502del)
c.100502_100504del (p.Gly33501del)
c.99935_99937del (p.Gly33312del)
c.97277_97279del (p.Gly32426del)
c.97196_97198del (p.Gly32399del)
c.78959_78961del (p.Gly26320del)
c.68813_68815del (p.Gly22938del)
 dbSNP
2g.178530550delCA2662125998TTN,TTN-AS1c.98361del (p.Glu32788AsnfsTer?)
c.79446del (p.Glu26483AsnfsTer?)
c.79245del (p.Glu26416AsnfsTer?)
c.78870del (p.Glu26291AsnfsTer?)
c.106065del (p.Glu35356AsnfsTer?)
c.101142del (p.Glu33715AsnfsTer?)
n.446+6914del
n.220-5182del
c.105162del (p.Glu35055AsnfsTer?)
c.79056del (p.Glu26353AsnfsTer?)
c.78915del (p.Glu26306AsnfsTer?)
c.104958del (p.Glu34987AsnfsTer?)
c.100356del (p.Glu33453AsnfsTer?)
c.100353del (p.Glu33452AsnfsTer?)
c.97395del (p.Glu32466AsnfsTer?)
c.79011del (p.Glu26338AsnfsTer?)
c.100506del (p.Glu33503AsnfsTer?)
c.100503del (p.Glu33502AsnfsTer?)
c.99936del (p.Glu33313AsnfsTer?)
c.97278del (p.Glu32427AsnfsTer?)
c.97197del (p.Glu32400AsnfsTer?)
c.78960del (p.Glu26321AsnfsTer?)
c.68814del (p.Glu22939AsnfsTer?)
 gnomAD v4
2g.178530550T>ACA430235193TTN,TTN-AS1c.98361A>T (p.Gly32787=)
c.79446A>T (p.Gly26482=)
c.79245A>T (p.Gly26415=)
c.78870A>T (p.Gly26290=)
c.106065A>T (p.Gly35355=)
c.101142A>T (p.Gly33714=)
n.446+6914T>A
n.220-5182T>A
c.105162A>T (p.Gly35054=)
c.79056A>T (p.Gly26352=)
c.78915A>T (p.Gly26305=)
c.104958A>T (p.Gly34986=)
c.100356A>T (p.Gly33452=)
c.100353A>T (p.Gly33451=)
c.97395A>T (p.Gly32465=)
c.79011A>T (p.Gly26337=)
c.100506A>T (p.Gly33502=)
c.100503A>T (p.Gly33501=)
c.99936A>T (p.Gly33312=)
c.97278A>T (p.Gly32426=)
c.97197A>T (p.Gly32399=)
c.78960A>T (p.Gly26320=)
c.68814A>T (p.Gly22938=)
2g.178530550T>CCA430235194TTN,TTN-AS1c.98361A>G (p.Gly32787=)
c.79446A>G (p.Gly26482=)
c.79245A>G (p.Gly26415=)
c.78870A>G (p.Gly26290=)
c.106065A>G (p.Gly35355=)
c.101142A>G (p.Gly33714=)
n.446+6914T>C
n.220-5182T>C
c.105162A>G (p.Gly35054=)
c.79056A>G (p.Gly26352=)
c.78915A>G (p.Gly26305=)
c.104958A>G (p.Gly34986=)
c.100356A>G (p.Gly33452=)
c.100353A>G (p.Gly33451=)
c.97395A>G (p.Gly32465=)
c.79011A>G (p.Gly26337=)
c.100506A>G (p.Gly33502=)
c.100503A>G (p.Gly33501=)
c.99936A>G (p.Gly33312=)
c.97278A>G (p.Gly32426=)
c.97197A>G (p.Gly32399=)
c.78960A>G (p.Gly26320=)
c.68814A>G (p.Gly22938=)
2g.178530550T>GCA430235195TTN,TTN-AS1c.98361A>C (p.Gly32787=)
c.79446A>C (p.Gly26482=)
c.79245A>C (p.Gly26415=)
c.78870A>C (p.Gly26290=)
c.106065A>C (p.Gly35355=)
c.101142A>C (p.Gly33714=)
n.446+6914T>G
n.220-5182T>G
c.105162A>C (p.Gly35054=)
c.79056A>C (p.Gly26352=)
c.78915A>C (p.Gly26305=)
c.104958A>C (p.Gly34986=)
c.100356A>C (p.Gly33452=)
c.100353A>C (p.Gly33451=)
c.97395A>C (p.Gly32465=)
c.79011A>C (p.Gly26337=)
c.100506A>C (p.Gly33502=)
c.100503A>C (p.Gly33501=)
c.99936A>C (p.Gly33312=)
c.97278A>C (p.Gly32426=)
c.97197A>C (p.Gly32399=)
c.78960A>C (p.Gly26320=)
c.68814A>C (p.Gly22938=)
2g.178530551C>ACA349407113TTN,TTN-AS1c.98360G>T (p.Gly32787Val)
c.79445G>T (p.Gly26482Val)
c.79244G>T (p.Gly26415Val)
c.78869G>T (p.Gly26290Val)
c.106064G>T (p.Gly35355Val)
c.101141G>T (p.Gly33714Val)
n.446+6915C>A
n.220-5181C>A
c.105161G>T (p.Gly35054Val)
c.79055G>T (p.Gly26352Val)
c.78914G>T (p.Gly26305Val)
c.104957G>T (p.Gly34986Val)
c.100355G>T (p.Gly33452Val)
c.100352G>T (p.Gly33451Val)
c.97394G>T (p.Gly32465Val)
c.79010G>T (p.Gly26337Val)
c.100505G>T (p.Gly33502Val)
c.100502G>T (p.Gly33501Val)
c.99935G>T (p.Gly33312Val)
c.97277G>T (p.Gly32426Val)
c.97196G>T (p.Gly32399Val)
c.78959G>T (p.Gly26320Val)
c.68813G>T (p.Gly22938Val)
2g.178530551C=CA1310514739TTN,TTN-AS1c.98360G= (p.Gly32787=)
c.79445G= (p.Gly26482=)
c.79244G= (p.Gly26415=)
c.78869G= (p.Gly26290=)
c.106064G= (p.Gly35355=)
c.101141G= (p.Gly33714=)
n.446+6915C=
n.220-5181C=
c.105161G= (p.Gly35054=)
c.79055G= (p.Gly26352=)
c.78914G= (p.Gly26305=)
c.104957G= (p.Gly34986=)
c.100355G= (p.Gly33452=)
c.100352G= (p.Gly33451=)
c.97394G= (p.Gly32465=)
c.79010G= (p.Gly26337=)
c.100505G= (p.Gly33502=)
c.100502G= (p.Gly33501=)
c.99935G= (p.Gly33312=)
c.97277G= (p.Gly32426=)
c.97196G= (p.Gly32399=)
c.78959G= (p.Gly26320=)
c.68813G= (p.Gly22938=)
2g.178530551C>GCA349407114TTN,TTN-AS1c.98360G>C (p.Gly32787Ala)
c.79445G>C (p.Gly26482Ala)
c.79244G>C (p.Gly26415Ala)
c.78869G>C (p.Gly26290Ala)
c.106064G>C (p.Gly35355Ala)
c.101141G>C (p.Gly33714Ala)
n.446+6915C>G
n.220-5181C>G
c.105161G>C (p.Gly35054Ala)
c.79055G>C (p.Gly26352Ala)
c.78914G>C (p.Gly26305Ala)
c.104957G>C (p.Gly34986Ala)
c.100355G>C (p.Gly33452Ala)
c.100352G>C (p.Gly33451Ala)
c.97394G>C (p.Gly32465Ala)
c.79010G>C (p.Gly26337Ala)
c.100505G>C (p.Gly33502Ala)
c.100502G>C (p.Gly33501Ala)
c.99935G>C (p.Gly33312Ala)
c.97277G>C (p.Gly32426Ala)
c.97196G>C (p.Gly32399Ala)
c.78959G>C (p.Gly26320Ala)
c.68813G>C (p.Gly22938Ala)
 gnomAD v4
2g.178530551C>TCA60953449TTN,TTN-AS1c.98360G>A (p.Gly32787Glu)
c.79445G>A (p.Gly26482Glu)
c.79244G>A (p.Gly26415Glu)
c.78869G>A (p.Gly26290Glu)
c.106064G>A (p.Gly35355Glu)
c.101141G>A (p.Gly33714Glu)
n.446+6915C>T
n.220-5181C>T
c.105161G>A (p.Gly35054Glu)
c.79055G>A (p.Gly26352Glu)
c.78914G>A (p.Gly26305Glu)
c.104957G>A (p.Gly34986Glu)
c.100355G>A (p.Gly33452Glu)
c.100352G>A (p.Gly33451Glu)
c.97394G>A (p.Gly32465Glu)
c.79010G>A (p.Gly26337Glu)
c.100505G>A (p.Gly33502Glu)
c.100502G>A (p.Gly33501Glu)
c.99935G>A (p.Gly33312Glu)
c.97277G>A (p.Gly32426Glu)
c.97196G>A (p.Gly32399Glu)
c.78959G>A (p.Gly26320Glu)
c.68813G>A (p.Gly22938Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.178530552C>ACA349407115TTN,TTN-AS1c.98359G>T (p.Gly32787Ter)
c.79444G>T (p.Gly26482Ter)
c.79243G>T (p.Gly26415Ter)
c.78868G>T (p.Gly26290Ter)
c.106063G>T (p.Gly35355Ter)
c.101140G>T (p.Gly33714Ter)
n.446+6916C>A
n.220-5180C>A
c.105160G>T (p.Gly35054Ter)
c.79054G>T (p.Gly26352Ter)
c.78913G>T (p.Gly26305Ter)
c.104956G>T (p.Gly34986Ter)
c.100354G>T (p.Gly33452Ter)
c.100351G>T (p.Gly33451Ter)
c.97393G>T (p.Gly32465Ter)
c.79009G>T (p.Gly26337Ter)
c.100504G>T (p.Gly33502Ter)
c.100501G>T (p.Gly33501Ter)
c.99934G>T (p.Gly33312Ter)
c.97276G>T (p.Gly32426Ter)
c.97195G>T (p.Gly32399Ter)
c.78958G>T (p.Gly26320Ter)
c.68812G>T (p.Gly22938Ter)
2g.178530552C>GCA349407116TTN,TTN-AS1c.98359G>C (p.Gly32787Arg)
c.79444G>C (p.Gly26482Arg)
c.79243G>C (p.Gly26415Arg)
c.78868G>C (p.Gly26290Arg)
c.106063G>C (p.Gly35355Arg)
c.101140G>C (p.Gly33714Arg)
n.446+6916C>G
n.220-5180C>G
c.105160G>C (p.Gly35054Arg)
c.79054G>C (p.Gly26352Arg)
c.78913G>C (p.Gly26305Arg)
c.104956G>C (p.Gly34986Arg)
c.100354G>C (p.Gly33452Arg)
c.100351G>C (p.Gly33451Arg)
c.97393G>C (p.Gly32465Arg)
c.79009G>C (p.Gly26337Arg)
c.100504G>C (p.Gly33502Arg)
c.100501G>C (p.Gly33501Arg)
c.99934G>C (p.Gly33312Arg)
c.97276G>C (p.Gly32426Arg)
c.97195G>C (p.Gly32399Arg)
c.78958G>C (p.Gly26320Arg)
c.68812G>C (p.Gly22938Arg)
2g.178530552C>TCA349407117TTN,TTN-AS1c.98359G>A (p.Gly32787Arg)
c.79444G>A (p.Gly26482Arg)
c.79243G>A (p.Gly26415Arg)
c.78868G>A (p.Gly26290Arg)
c.106063G>A (p.Gly35355Arg)
c.101140G>A (p.Gly33714Arg)
n.446+6916C>T
n.220-5180C>T
c.105160G>A (p.Gly35054Arg)
c.79054G>A (p.Gly26352Arg)
c.78913G>A (p.Gly26305Arg)
c.104956G>A (p.Gly34986Arg)
c.100354G>A (p.Gly33452Arg)
c.100351G>A (p.Gly33451Arg)
c.97393G>A (p.Gly32465Arg)
c.79009G>A (p.Gly26337Arg)
c.100504G>A (p.Gly33502Arg)
c.100501G>A (p.Gly33501Arg)
c.99934G>A (p.Gly33312Arg)
c.97276G>A (p.Gly32426Arg)
c.97195G>A (p.Gly32399Arg)
c.78958G>A (p.Gly26320Arg)
c.68812G>A (p.Gly22938Arg)
2g.178530553T>ACA349407118TTN,TTN-AS1c.98358A>T (p.Gln32786His)
c.79443A>T (p.Gln26481His)
c.79242A>T (p.Gln26414His)
c.78867A>T (p.Gln26289His)
c.106062A>T (p.Gln35354His)
c.101139A>T (p.Gln33713His)
n.446+6917T>A
n.220-5179T>A
c.105159A>T (p.Gln35053His)
c.79053A>T (p.Gln26351His)
c.78912A>T (p.Gln26304His)
c.104955A>T (p.Gln34985His)
c.100353A>T (p.Gln33451His)
c.100350A>T (p.Gln33450His)
c.97392A>T (p.Gln32464His)
c.79008A>T (p.Gln26336His)
c.100503A>T (p.Gln33501His)
c.100500A>T (p.Gln33500His)
c.99933A>T (p.Gln33311His)
c.97275A>T (p.Gln32425His)
c.97194A>T (p.Gln32398His)
c.78957A>T (p.Gln26319His)
c.68811A>T (p.Gln22937His)
 dbSNP
2g.178530553T>CCA430235200TTN,TTN-AS1c.98358A>G (p.Gln32786=)
c.79443A>G (p.Gln26481=)
c.79242A>G (p.Gln26414=)
c.78867A>G (p.Gln26289=)
c.106062A>G (p.Gln35354=)
c.101139A>G (p.Gln33713=)
n.446+6917T>C
n.220-5179T>C
c.105159A>G (p.Gln35053=)
c.79053A>G (p.Gln26351=)
c.78912A>G (p.Gln26304=)
c.104955A>G (p.Gln34985=)
c.100353A>G (p.Gln33451=)
c.100350A>G (p.Gln33450=)
c.97392A>G (p.Gln32464=)
c.79008A>G (p.Gln26336=)
c.100503A>G (p.Gln33501=)
c.100500A>G (p.Gln33500=)
c.99933A>G (p.Gln33311=)
c.97275A>G (p.Gln32425=)
c.97194A>G (p.Gln32398=)
c.78957A>G (p.Gln26319=)
c.68811A>G (p.Gln22937=)
2g.178530553T>GCA349407119TTN,TTN-AS1c.98358A>C (p.Gln32786His)
c.79443A>C (p.Gln26481His)
c.79242A>C (p.Gln26414His)
c.78867A>C (p.Gln26289His)
c.106062A>C (p.Gln35354His)
c.101139A>C (p.Gln33713His)
n.446+6917T>G
n.220-5179T>G
c.105159A>C (p.Gln35053His)
c.79053A>C (p.Gln26351His)
c.78912A>C (p.Gln26304His)
c.104955A>C (p.Gln34985His)
c.100353A>C (p.Gln33451His)
c.100350A>C (p.Gln33450His)
c.97392A>C (p.Gln32464His)
c.79008A>C (p.Gln26336His)
c.100503A>C (p.Gln33501His)
c.100500A>C (p.Gln33500His)
c.99933A>C (p.Gln33311His)
c.97275A>C (p.Gln32425His)
c.97194A>C (p.Gln32398His)
c.78957A>C (p.Gln26319His)
c.68811A>C (p.Gln22937His)
2g.178530554T>ACA349407121TTN,TTN-AS1c.98357A>T (p.Gln32786Leu)
c.79442A>T (p.Gln26481Leu)
c.79241A>T (p.Gln26414Leu)
c.78866A>T (p.Gln26289Leu)
c.106061A>T (p.Gln35354Leu)
c.101138A>T (p.Gln33713Leu)
n.446+6918T>A
n.220-5178T>A
c.105158A>T (p.Gln35053Leu)
c.79052A>T (p.Gln26351Leu)
c.78911A>T (p.Gln26304Leu)
c.104954A>T (p.Gln34985Leu)
c.100352A>T (p.Gln33451Leu)
c.100349A>T (p.Gln33450Leu)
c.97391A>T (p.Gln32464Leu)
c.79007A>T (p.Gln26336Leu)
c.100502A>T (p.Gln33501Leu)
c.100499A>T (p.Gln33500Leu)
c.99932A>T (p.Gln33311Leu)
c.97274A>T (p.Gln32425Leu)
c.97193A>T (p.Gln32398Leu)
c.78956A>T (p.Gln26319Leu)
c.68810A>T (p.Gln22937Leu)
2g.178530554T>CCA1985167TTN,TTN-AS1c.98357A>G (p.Gln32786Arg)
c.79442A>G (p.Gln26481Arg)
c.79241A>G (p.Gln26414Arg)
c.78866A>G (p.Gln26289Arg)
c.106061A>G (p.Gln35354Arg)
c.101138A>G (p.Gln33713Arg)
n.446+6918T>C
n.220-5178T>C
c.105158A>G (p.Gln35053Arg)
c.79052A>G (p.Gln26351Arg)
c.78911A>G (p.Gln26304Arg)
c.104954A>G (p.Gln34985Arg)
c.100352A>G (p.Gln33451Arg)
c.100349A>G (p.Gln33450Arg)
c.97391A>G (p.Gln32464Arg)
c.79007A>G (p.Gln26336Arg)
c.100502A>G (p.Gln33501Arg)
c.100499A>G (p.Gln33500Arg)
c.99932A>G (p.Gln33311Arg)
c.97274A>G (p.Gln32425Arg)
c.97193A>G (p.Gln32398Arg)
c.78956A>G (p.Gln26319Arg)
c.68810A>G (p.Gln22937Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530554T>GCA349407120TTN,TTN-AS1c.98357A>C (p.Gln32786Pro)
c.79442A>C (p.Gln26481Pro)
c.79241A>C (p.Gln26414Pro)
c.78866A>C (p.Gln26289Pro)
c.106061A>C (p.Gln35354Pro)
c.101138A>C (p.Gln33713Pro)
n.446+6918T>G
n.220-5178T>G
c.105158A>C (p.Gln35053Pro)
c.79052A>C (p.Gln26351Pro)
c.78911A>C (p.Gln26304Pro)
c.104954A>C (p.Gln34985Pro)
c.100352A>C (p.Gln33451Pro)
c.100349A>C (p.Gln33450Pro)
c.97391A>C (p.Gln32464Pro)
c.79007A>C (p.Gln26336Pro)
c.100502A>C (p.Gln33501Pro)
c.100499A>C (p.Gln33500Pro)
c.99932A>C (p.Gln33311Pro)
c.97274A>C (p.Gln32425Pro)
c.97193A>C (p.Gln32398Pro)
c.78956A>C (p.Gln26319Pro)
c.68810A>C (p.Gln22937Pro)
2g.178530554T=CA1310514741TTN,TTN-AS1c.98357A= (p.Gln32786=)
c.79442A= (p.Gln26481=)
c.79241A= (p.Gln26414=)
c.78866A= (p.Gln26289=)
c.106061A= (p.Gln35354=)
c.101138A= (p.Gln33713=)
n.446+6918T=
n.220-5178T=
c.105158A= (p.Gln35053=)
c.79052A= (p.Gln26351=)
c.78911A= (p.Gln26304=)
c.104954A= (p.Gln34985=)
c.100352A= (p.Gln33451=)
c.100349A= (p.Gln33450=)
c.97391A= (p.Gln32464=)
c.79007A= (p.Gln26336=)
c.100502A= (p.Gln33501=)
c.100499A= (p.Gln33500=)
c.99932A= (p.Gln33311=)
c.97274A= (p.Gln32425=)
c.97193A= (p.Gln32398=)
c.78956A= (p.Gln26319=)
c.68810A= (p.Gln22937=)
2g.178530555G>ACA1985168TTN,TTN-AS1c.98356C>T (p.Gln32786Ter)
c.79441C>T (p.Gln26481Ter)
c.79240C>T (p.Gln26414Ter)
c.78865C>T (p.Gln26289Ter)
c.106060C>T (p.Gln35354Ter)
c.101137C>T (p.Gln33713Ter)
n.446+6919G>A
n.220-5177G>A
c.105157C>T (p.Gln35053Ter)
c.79051C>T (p.Gln26351Ter)
c.78910C>T (p.Gln26304Ter)
c.104953C>T (p.Gln34985Ter)
c.100351C>T (p.Gln33451Ter)
c.100348C>T (p.Gln33450Ter)
c.97390C>T (p.Gln32464Ter)
c.79006C>T (p.Gln26336Ter)
c.100501C>T (p.Gln33501Ter)
c.100498C>T (p.Gln33500Ter)
c.99931C>T (p.Gln33311Ter)
c.97273C>T (p.Gln32425Ter)
c.97192C>T (p.Gln32398Ter)
c.78955C>T (p.Gln26319Ter)
c.68809C>T (p.Gln22937Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530555G>CCA349407122TTN,TTN-AS1c.98356C>G (p.Gln32786Glu)
c.79441C>G (p.Gln26481Glu)
c.79240C>G (p.Gln26414Glu)
c.78865C>G (p.Gln26289Glu)
c.106060C>G (p.Gln35354Glu)
c.101137C>G (p.Gln33713Glu)
n.446+6919G>C
n.220-5177G>C
c.105157C>G (p.Gln35053Glu)
c.79051C>G (p.Gln26351Glu)
c.78910C>G (p.Gln26304Glu)
c.104953C>G (p.Gln34985Glu)
c.100351C>G (p.Gln33451Glu)
c.100348C>G (p.Gln33450Glu)
c.97390C>G (p.Gln32464Glu)
c.79006C>G (p.Gln26336Glu)
c.100501C>G (p.Gln33501Glu)
c.100498C>G (p.Gln33500Glu)
c.99931C>G (p.Gln33311Glu)
c.97273C>G (p.Gln32425Glu)
c.97192C>G (p.Gln32398Glu)
c.78955C>G (p.Gln26319Glu)
c.68809C>G (p.Gln22937Glu)
2g.178530555G=CA1310514744TTN,TTN-AS1c.98356C= (p.Gln32786=)
c.79441C= (p.Gln26481=)
c.79240C= (p.Gln26414=)
c.78865C= (p.Gln26289=)
c.106060C= (p.Gln35354=)
c.101137C= (p.Gln33713=)
n.446+6919G=
n.220-5177G=
c.105157C= (p.Gln35053=)
c.79051C= (p.Gln26351=)
c.78910C= (p.Gln26304=)
c.104953C= (p.Gln34985=)
c.100351C= (p.Gln33451=)
c.100348C= (p.Gln33450=)
c.97390C= (p.Gln32464=)
c.79006C= (p.Gln26336=)
c.100501C= (p.Gln33501=)
c.100498C= (p.Gln33500=)
c.99931C= (p.Gln33311=)
c.97273C= (p.Gln32425=)
c.97192C= (p.Gln32398=)
c.78955C= (p.Gln26319=)
c.68809C= (p.Gln22937=)
2g.178530555G>TCA349407123TTN,TTN-AS1c.98356C>A (p.Gln32786Lys)
c.79441C>A (p.Gln26481Lys)
c.79240C>A (p.Gln26414Lys)
c.78865C>A (p.Gln26289Lys)
c.106060C>A (p.Gln35354Lys)
c.101137C>A (p.Gln33713Lys)
n.446+6919G>T
n.220-5177G>T
c.105157C>A (p.Gln35053Lys)
c.79051C>A (p.Gln26351Lys)
c.78910C>A (p.Gln26304Lys)
c.104953C>A (p.Gln34985Lys)
c.100351C>A (p.Gln33451Lys)
c.100348C>A (p.Gln33450Lys)
c.97390C>A (p.Gln32464Lys)
c.79006C>A (p.Gln26336Lys)
c.100501C>A (p.Gln33501Lys)
c.100498C>A (p.Gln33500Lys)
c.99931C>A (p.Gln33311Lys)
c.97273C>A (p.Gln32425Lys)
c.97192C>A (p.Gln32398Lys)
c.78955C>A (p.Gln26319Lys)
c.68809C>A (p.Gln22937Lys)
2g.178530556A=CA1310514745TTN,TTN-AS1c.98355T= (p.Asp32785=)
c.79440T= (p.Asp26480=)
c.79239T= (p.Asp26413=)
c.78864T= (p.Asp26288=)
c.106059T= (p.Asp35353=)
c.101136T= (p.Asp33712=)
n.446+6920A=
n.220-5176A=
c.105156T= (p.Asp35052=)
c.79050T= (p.Asp26350=)
c.78909T= (p.Asp26303=)
c.104952T= (p.Asp34984=)
c.100350T= (p.Asp33450=)
c.100347T= (p.Asp33449=)
c.97389T= (p.Asp32463=)
c.79005T= (p.Asp26335=)
c.100500T= (p.Asp33500=)
c.100497T= (p.Asp33499=)
c.99930T= (p.Asp33310=)
c.97272T= (p.Asp32424=)
c.97191T= (p.Asp32397=)
c.78954T= (p.Asp26318=)
c.68808T= (p.Asp22936=)
2g.178530556A>CCA349407124TTN,TTN-AS1c.98355T>G (p.Asp32785Glu)
c.79440T>G (p.Asp26480Glu)
c.79239T>G (p.Asp26413Glu)
c.78864T>G (p.Asp26288Glu)
c.106059T>G (p.Asp35353Glu)
c.101136T>G (p.Asp33712Glu)
n.446+6920A>C
n.220-5176A>C
c.105156T>G (p.Asp35052Glu)
c.79050T>G (p.Asp26350Glu)
c.78909T>G (p.Asp26303Glu)
c.104952T>G (p.Asp34984Glu)
c.100350T>G (p.Asp33450Glu)
c.100347T>G (p.Asp33449Glu)
c.97389T>G (p.Asp32463Glu)
c.79005T>G (p.Asp26335Glu)
c.100500T>G (p.Asp33500Glu)
c.100497T>G (p.Asp33499Glu)
c.99930T>G (p.Asp33310Glu)
c.97272T>G (p.Asp32424Glu)
c.97191T>G (p.Asp32397Glu)
c.78954T>G (p.Asp26318Glu)
c.68808T>G (p.Asp22936Glu)
2g.178530556A>GCA430235206TTN,TTN-AS1c.98355T>C (p.Asp32785=)
c.79440T>C (p.Asp26480=)
c.79239T>C (p.Asp26413=)
c.78864T>C (p.Asp26288=)
c.106059T>C (p.Asp35353=)
c.101136T>C (p.Asp33712=)
n.446+6920A>G
n.220-5176A>G
c.105156T>C (p.Asp35052=)
c.79050T>C (p.Asp26350=)
c.78909T>C (p.Asp26303=)
c.104952T>C (p.Asp34984=)
c.100350T>C (p.Asp33450=)
c.100347T>C (p.Asp33449=)
c.97389T>C (p.Asp32463=)
c.79005T>C (p.Asp26335=)
c.100500T>C (p.Asp33500=)
c.100497T>C (p.Asp33499=)
c.99930T>C (p.Asp33310=)
c.97272T>C (p.Asp32424=)
c.97191T>C (p.Asp32397=)
c.78954T>C (p.Asp26318=)
c.68808T>C (p.Asp22936=)
 dbSNP
2g.178530556A>TCA349407125TTN,TTN-AS1c.98355T>A (p.Asp32785Glu)
c.79440T>A (p.Asp26480Glu)
c.79239T>A (p.Asp26413Glu)
c.78864T>A (p.Asp26288Glu)
c.106059T>A (p.Asp35353Glu)
c.101136T>A (p.Asp33712Glu)
n.446+6920A>T
n.220-5176A>T
c.105156T>A (p.Asp35052Glu)
c.79050T>A (p.Asp26350Glu)
c.78909T>A (p.Asp26303Glu)
c.104952T>A (p.Asp34984Glu)
c.100350T>A (p.Asp33450Glu)
c.100347T>A (p.Asp33449Glu)
c.97389T>A (p.Asp32463Glu)
c.79005T>A (p.Asp26335Glu)
c.100500T>A (p.Asp33500Glu)
c.100497T>A (p.Asp33499Glu)
c.99930T>A (p.Asp33310Glu)
c.97272T>A (p.Asp32424Glu)
c.97191T>A (p.Asp32397Glu)
c.78954T>A (p.Asp26318Glu)
c.68808T>A (p.Asp22936Glu)
 dbSNP
2g.178530557T>ACA349407126TTN,TTN-AS1c.98354A>T (p.Asp32785Val)
c.79439A>T (p.Asp26480Val)
c.79238A>T (p.Asp26413Val)
c.78863A>T (p.Asp26288Val)
c.106058A>T (p.Asp35353Val)
c.101135A>T (p.Asp33712Val)
n.446+6921T>A
n.220-5175T>A
c.105155A>T (p.Asp35052Val)
c.79049A>T (p.Asp26350Val)
c.78908A>T (p.Asp26303Val)
c.104951A>T (p.Asp34984Val)
c.100349A>T (p.Asp33450Val)
c.100346A>T (p.Asp33449Val)
c.97388A>T (p.Asp32463Val)
c.79004A>T (p.Asp26335Val)
c.100499A>T (p.Asp33500Val)
c.100496A>T (p.Asp33499Val)
c.99929A>T (p.Asp33310Val)
c.97271A>T (p.Asp32424Val)
c.97190A>T (p.Asp32397Val)
c.78953A>T (p.Asp26318Val)
c.68807A>T (p.Asp22936Val)
2g.178530557T>CCA349407127TTN,TTN-AS1c.98354A>G (p.Asp32785Gly)
c.79439A>G (p.Asp26480Gly)
c.79238A>G (p.Asp26413Gly)
c.78863A>G (p.Asp26288Gly)
c.106058A>G (p.Asp35353Gly)
c.101135A>G (p.Asp33712Gly)
n.446+6921T>C
n.220-5175T>C
c.105155A>G (p.Asp35052Gly)
c.79049A>G (p.Asp26350Gly)
c.78908A>G (p.Asp26303Gly)
c.104951A>G (p.Asp34984Gly)
c.100349A>G (p.Asp33450Gly)
c.100346A>G (p.Asp33449Gly)
c.97388A>G (p.Asp32463Gly)
c.79004A>G (p.Asp26335Gly)
c.100499A>G (p.Asp33500Gly)
c.100496A>G (p.Asp33499Gly)
c.99929A>G (p.Asp33310Gly)
c.97271A>G (p.Asp32424Gly)
c.97190A>G (p.Asp32397Gly)
c.78953A>G (p.Asp26318Gly)
c.68807A>G (p.Asp22936Gly)
 gnomAD v4
2g.178530557T>GCA349407128TTN,TTN-AS1c.98354A>C (p.Asp32785Ala)
c.79439A>C (p.Asp26480Ala)
c.79238A>C (p.Asp26413Ala)
c.78863A>C (p.Asp26288Ala)
c.106058A>C (p.Asp35353Ala)
c.101135A>C (p.Asp33712Ala)
n.446+6921T>G
n.220-5175T>G
c.105155A>C (p.Asp35052Ala)
c.79049A>C (p.Asp26350Ala)
c.78908A>C (p.Asp26303Ala)
c.104951A>C (p.Asp34984Ala)
c.100349A>C (p.Asp33450Ala)
c.100346A>C (p.Asp33449Ala)
c.97388A>C (p.Asp32463Ala)
c.79004A>C (p.Asp26335Ala)
c.100499A>C (p.Asp33500Ala)
c.100496A>C (p.Asp33499Ala)
c.99929A>C (p.Asp33310Ala)
c.97271A>C (p.Asp32424Ala)
c.97190A>C (p.Asp32397Ala)
c.78953A>C (p.Asp26318Ala)
c.68807A>C (p.Asp22936Ala)
2g.178530558C>ACA349407129TTN,TTN-AS1c.98353G>T (p.Asp32785Tyr)
c.79438G>T (p.Asp26480Tyr)
c.79237G>T (p.Asp26413Tyr)
c.78862G>T (p.Asp26288Tyr)
c.106057G>T (p.Asp35353Tyr)
c.101134G>T (p.Asp33712Tyr)
n.446+6922C>A
n.220-5174C>A
c.105154G>T (p.Asp35052Tyr)
c.79048G>T (p.Asp26350Tyr)
c.78907G>T (p.Asp26303Tyr)
c.104950G>T (p.Asp34984Tyr)
c.100348G>T (p.Asp33450Tyr)
c.100345G>T (p.Asp33449Tyr)
c.97387G>T (p.Asp32463Tyr)
c.79003G>T (p.Asp26335Tyr)
c.100498G>T (p.Asp33500Tyr)
c.100495G>T (p.Asp33499Tyr)
c.99928G>T (p.Asp33310Tyr)
c.97270G>T (p.Asp32424Tyr)
c.97189G>T (p.Asp32397Tyr)
c.78952G>T (p.Asp26318Tyr)
c.68806G>T (p.Asp22936Tyr)
2g.178530558C=CA1310514747TTN,TTN-AS1c.98353G= (p.Asp32785=)
c.79438G= (p.Asp26480=)
c.79237G= (p.Asp26413=)
c.78862G= (p.Asp26288=)
c.106057G= (p.Asp35353=)
c.101134G= (p.Asp33712=)
n.446+6922C=
n.220-5174C=
c.105154G= (p.Asp35052=)
c.79048G= (p.Asp26350=)
c.78907G= (p.Asp26303=)
c.104950G= (p.Asp34984=)
c.100348G= (p.Asp33450=)
c.100345G= (p.Asp33449=)
c.97387G= (p.Asp32463=)
c.79003G= (p.Asp26335=)
c.100498G= (p.Asp33500=)
c.100495G= (p.Asp33499=)
c.99928G= (p.Asp33310=)
c.97270G= (p.Asp32424=)
c.97189G= (p.Asp32397=)
c.78952G= (p.Asp26318=)
c.68806G= (p.Asp22936=)
2g.178530558C>GCA1985169TTN,TTN-AS1c.98353G>C (p.Asp32785His)
c.79438G>C (p.Asp26480His)
c.79237G>C (p.Asp26413His)
c.78862G>C (p.Asp26288His)
c.106057G>C (p.Asp35353His)
c.101134G>C (p.Asp33712His)
n.446+6922C>G
n.220-5174C>G
c.105154G>C (p.Asp35052His)
c.79048G>C (p.Asp26350His)
c.78907G>C (p.Asp26303His)
c.104950G>C (p.Asp34984His)
c.100348G>C (p.Asp33450His)
c.100345G>C (p.Asp33449His)
c.97387G>C (p.Asp32463His)
c.79003G>C (p.Asp26335His)
c.100498G>C (p.Asp33500His)
c.100495G>C (p.Asp33499His)
c.99928G>C (p.Asp33310His)
c.97270G>C (p.Asp32424His)
c.97189G>C (p.Asp32397His)
c.78952G>C (p.Asp26318His)
c.68806G>C (p.Asp22936His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530558C>TCA349407130TTN,TTN-AS1c.98353G>A (p.Asp32785Asn)
c.79438G>A (p.Asp26480Asn)
c.79237G>A (p.Asp26413Asn)
c.78862G>A (p.Asp26288Asn)
c.106057G>A (p.Asp35353Asn)
c.101134G>A (p.Asp33712Asn)
n.446+6922C>T
n.220-5174C>T
c.105154G>A (p.Asp35052Asn)
c.79048G>A (p.Asp26350Asn)
c.78907G>A (p.Asp26303Asn)
c.104950G>A (p.Asp34984Asn)
c.100348G>A (p.Asp33450Asn)
c.100345G>A (p.Asp33449Asn)
c.97387G>A (p.Asp32463Asn)
c.79003G>A (p.Asp26335Asn)
c.100498G>A (p.Asp33500Asn)
c.100495G>A (p.Asp33499Asn)
c.99928G>A (p.Asp33310Asn)
c.97270G>A (p.Asp32424Asn)
c.97189G>A (p.Asp32397Asn)
c.78952G>A (p.Asp26318Asn)
c.68806G>A (p.Asp22936Asn)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178530559A>CCA430235214TTN,TTN-AS1c.98352T>G (p.Ser32784=)
c.79437T>G (p.Ser26479=)
c.79236T>G (p.Ser26412=)
c.78861T>G (p.Ser26287=)
c.106056T>G (p.Ser35352=)
c.101133T>G (p.Ser33711=)
n.446+6923A>C
n.220-5173A>C
c.105153T>G (p.Ser35051=)
c.79047T>G (p.Ser26349=)
c.78906T>G (p.Ser26302=)
c.104949T>G (p.Ser34983=)
c.100347T>G (p.Ser33449=)
c.100344T>G (p.Ser33448=)
c.97386T>G (p.Ser32462=)
c.79002T>G (p.Ser26334=)
c.100497T>G (p.Ser33499=)
c.100494T>G (p.Ser33498=)
c.99927T>G (p.Ser33309=)
c.97269T>G (p.Ser32423=)
c.97188T>G (p.Ser32396=)
c.78951T>G (p.Ser26317=)
c.68805T>G (p.Ser22935=)
2g.178530559A>GCA430235217TTN,TTN-AS1c.98352T>C (p.Ser32784=)
c.79437T>C (p.Ser26479=)
c.79236T>C (p.Ser26412=)
c.78861T>C (p.Ser26287=)
c.106056T>C (p.Ser35352=)
c.101133T>C (p.Ser33711=)
n.446+6923A>G
n.220-5173A>G
c.105153T>C (p.Ser35051=)
c.79047T>C (p.Ser26349=)
c.78906T>C (p.Ser26302=)
c.104949T>C (p.Ser34983=)
c.100347T>C (p.Ser33449=)
c.100344T>C (p.Ser33448=)
c.97386T>C (p.Ser32462=)
c.79002T>C (p.Ser26334=)
c.100497T>C (p.Ser33499=)
c.100494T>C (p.Ser33498=)
c.99927T>C (p.Ser33309=)
c.97269T>C (p.Ser32423=)
c.97188T>C (p.Ser32396=)
c.78951T>C (p.Ser26317=)
c.68805T>C (p.Ser22935=)
 dbSNP
2g.178530559A>TCA430235215TTN,TTN-AS1c.98352T>A (p.Ser32784=)
c.79437T>A (p.Ser26479=)
c.79236T>A (p.Ser26412=)
c.78861T>A (p.Ser26287=)
c.106056T>A (p.Ser35352=)
c.101133T>A (p.Ser33711=)
n.446+6923A>T
n.220-5173A>T
c.105153T>A (p.Ser35051=)
c.79047T>A (p.Ser26349=)
c.78906T>A (p.Ser26302=)
c.104949T>A (p.Ser34983=)
c.100347T>A (p.Ser33449=)
c.100344T>A (p.Ser33448=)
c.97386T>A (p.Ser32462=)
c.79002T>A (p.Ser26334=)
c.100497T>A (p.Ser33499=)
c.100494T>A (p.Ser33498=)
c.99927T>A (p.Ser33309=)
c.97269T>A (p.Ser32423=)
c.97188T>A (p.Ser32396=)
c.78951T>A (p.Ser26317=)
c.68805T>A (p.Ser22935=)
2g.178530560G>ACA349407131TTN,TTN-AS1c.98351C>T (p.Ser32784Phe)
c.79436C>T (p.Ser26479Phe)
c.79235C>T (p.Ser26412Phe)
c.78860C>T (p.Ser26287Phe)
c.106055C>T (p.Ser35352Phe)
c.101132C>T (p.Ser33711Phe)
n.446+6924G>A
n.220-5172G>A
c.105152C>T (p.Ser35051Phe)
c.79046C>T (p.Ser26349Phe)
c.78905C>T (p.Ser26302Phe)
c.104948C>T (p.Ser34983Phe)
c.100346C>T (p.Ser33449Phe)
c.100343C>T (p.Ser33448Phe)
c.97385C>T (p.Ser32462Phe)
c.79001C>T (p.Ser26334Phe)
c.100496C>T (p.Ser33499Phe)
c.100493C>T (p.Ser33498Phe)
c.99926C>T (p.Ser33309Phe)
c.97268C>T (p.Ser32423Phe)
c.97187C>T (p.Ser32396Phe)
c.78950C>T (p.Ser26317Phe)
c.68804C>T (p.Ser22935Phe)
2g.178530560G>CCA60953460TTN,TTN-AS1c.98351C>G (p.Ser32784Cys)
c.79436C>G (p.Ser26479Cys)
c.79235C>G (p.Ser26412Cys)
c.78860C>G (p.Ser26287Cys)
c.106055C>G (p.Ser35352Cys)
c.101132C>G (p.Ser33711Cys)
n.446+6924G>C
n.220-5172G>C
c.105152C>G (p.Ser35051Cys)
c.79046C>G (p.Ser26349Cys)
c.78905C>G (p.Ser26302Cys)
c.104948C>G (p.Ser34983Cys)
c.100346C>G (p.Ser33449Cys)
c.100343C>G (p.Ser33448Cys)
c.97385C>G (p.Ser32462Cys)
c.79001C>G (p.Ser26334Cys)
c.100496C>G (p.Ser33499Cys)
c.100493C>G (p.Ser33498Cys)
c.99926C>G (p.Ser33309Cys)
c.97268C>G (p.Ser32423Cys)
c.97187C>G (p.Ser32396Cys)
c.78950C>G (p.Ser26317Cys)
c.68804C>G (p.Ser22935Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178530560G=CA1310514750TTN,TTN-AS1c.98351C= (p.Ser32784=)
c.79436C= (p.Ser26479=)
c.79235C= (p.Ser26412=)
c.78860C= (p.Ser26287=)
c.106055C= (p.Ser35352=)
c.101132C= (p.Ser33711=)
n.446+6924G=
n.220-5172G=
c.105152C= (p.Ser35051=)
c.79046C= (p.Ser26349=)
c.78905C= (p.Ser26302=)
c.104948C= (p.Ser34983=)
c.100346C= (p.Ser33449=)
c.100343C= (p.Ser33448=)
c.97385C= (p.Ser32462=)
c.79001C= (p.Ser26334=)
c.100496C= (p.Ser33499=)
c.100493C= (p.Ser33498=)
c.99926C= (p.Ser33309=)
c.97268C= (p.Ser32423=)
c.97187C= (p.Ser32396=)
c.78950C= (p.Ser26317=)
c.68804C= (p.Ser22935=)
2g.178530560G>TCA1985170TTN,TTN-AS1c.98351C>A (p.Ser32784Tyr)
c.79436C>A (p.Ser26479Tyr)
c.79235C>A (p.Ser26412Tyr)
c.78860C>A (p.Ser26287Tyr)
c.106055C>A (p.Ser35352Tyr)
c.101132C>A (p.Ser33711Tyr)
n.446+6924G>T
n.220-5172G>T
c.105152C>A (p.Ser35051Tyr)
c.79046C>A (p.Ser26349Tyr)
c.78905C>A (p.Ser26302Tyr)
c.104948C>A (p.Ser34983Tyr)
c.100346C>A (p.Ser33449Tyr)
c.100343C>A (p.Ser33448Tyr)
c.97385C>A (p.Ser32462Tyr)
c.79001C>A (p.Ser26334Tyr)
c.100496C>A (p.Ser33499Tyr)
c.100493C>A (p.Ser33498Tyr)
c.99926C>A (p.Ser33309Tyr)
c.97268C>A (p.Ser32423Tyr)
c.97187C>A (p.Ser32396Tyr)
c.78950C>A (p.Ser26317Tyr)
c.68804C>A (p.Ser22935Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530561A=CA1310514753TTN,TTN-AS1c.98350T= (p.Ser32784=)
c.79435T= (p.Ser26479=)
c.79234T= (p.Ser26412=)
c.78859T= (p.Ser26287=)
c.106054T= (p.Ser35352=)
c.101131T= (p.Ser33711=)
n.446+6925A=
n.220-5171A=
c.105151T= (p.Ser35051=)
c.79045T= (p.Ser26349=)
c.78904T= (p.Ser26302=)
c.104947T= (p.Ser34983=)
c.100345T= (p.Ser33449=)
c.100342T= (p.Ser33448=)
c.97384T= (p.Ser32462=)
c.79000T= (p.Ser26334=)
c.100495T= (p.Ser33499=)
c.100492T= (p.Ser33498=)
c.99925T= (p.Ser33309=)
c.97267T= (p.Ser32423=)
c.97186T= (p.Ser32396=)
c.78949T= (p.Ser26317=)
c.68803T= (p.Ser22935=)
2g.178530561A>CCA349407132TTN,TTN-AS1c.98350T>G (p.Ser32784Ala)
c.79435T>G (p.Ser26479Ala)
c.79234T>G (p.Ser26412Ala)
c.78859T>G (p.Ser26287Ala)
c.106054T>G (p.Ser35352Ala)
c.101131T>G (p.Ser33711Ala)
n.446+6925A>C
n.220-5171A>C
c.105151T>G (p.Ser35051Ala)
c.79045T>G (p.Ser26349Ala)
c.78904T>G (p.Ser26302Ala)
c.104947T>G (p.Ser34983Ala)
c.100345T>G (p.Ser33449Ala)
c.100342T>G (p.Ser33448Ala)
c.97384T>G (p.Ser32462Ala)
c.79000T>G (p.Ser26334Ala)
c.100495T>G (p.Ser33499Ala)
c.100492T>G (p.Ser33498Ala)
c.99925T>G (p.Ser33309Ala)
c.97267T>G (p.Ser32423Ala)
c.97186T>G (p.Ser32396Ala)
c.78949T>G (p.Ser26317Ala)
c.68803T>G (p.Ser22935Ala)
2g.178530561A>GCA60953469TTN,TTN-AS1c.98350T>C (p.Ser32784Pro)
c.79435T>C (p.Ser26479Pro)
c.79234T>C (p.Ser26412Pro)
c.78859T>C (p.Ser26287Pro)
c.106054T>C (p.Ser35352Pro)
c.101131T>C (p.Ser33711Pro)
n.446+6925A>G
n.220-5171A>G
c.105151T>C (p.Ser35051Pro)
c.79045T>C (p.Ser26349Pro)
c.78904T>C (p.Ser26302Pro)
c.104947T>C (p.Ser34983Pro)
c.100345T>C (p.Ser33449Pro)
c.100342T>C (p.Ser33448Pro)
c.97384T>C (p.Ser32462Pro)
c.79000T>C (p.Ser26334Pro)
c.100495T>C (p.Ser33499Pro)
c.100492T>C (p.Ser33498Pro)
c.99925T>C (p.Ser33309Pro)
c.97267T>C (p.Ser32423Pro)
c.97186T>C (p.Ser32396Pro)
c.78949T>C (p.Ser26317Pro)
c.68803T>C (p.Ser22935Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178530561A>TCA349407133TTN,TTN-AS1c.98350T>A (p.Ser32784Thr)
c.79435T>A (p.Ser26479Thr)
c.79234T>A (p.Ser26412Thr)
c.78859T>A (p.Ser26287Thr)
c.106054T>A (p.Ser35352Thr)
c.101131T>A (p.Ser33711Thr)
n.446+6925A>T
n.220-5171A>T
c.105151T>A (p.Ser35051Thr)
c.79045T>A (p.Ser26349Thr)
c.78904T>A (p.Ser26302Thr)
c.104947T>A (p.Ser34983Thr)
c.100345T>A (p.Ser33449Thr)
c.100342T>A (p.Ser33448Thr)
c.97384T>A (p.Ser32462Thr)
c.79000T>A (p.Ser26334Thr)
c.100495T>A (p.Ser33499Thr)
c.100492T>A (p.Ser33498Thr)
c.99925T>A (p.Ser33309Thr)
c.97267T>A (p.Ser32423Thr)
c.97186T>A (p.Ser32396Thr)
c.78949T>A (p.Ser26317Thr)
c.68803T>A (p.Ser22935Thr)
 dbSNP
2g.178530561dupCA1310514752TTN,TTN-AS1c.98350dup (p.Ser32784PhefsTer2)
c.79435dup (p.Ser26479PhefsTer2)
c.79234dup (p.Ser26412PhefsTer2)
c.78859dup (p.Ser26287PhefsTer2)
c.106054dup (p.Ser35352PhefsTer2)
c.101131dup (p.Ser33711PhefsTer2)
n.446+6925dup
n.220-5171dup
c.105151dup (p.Ser35051PhefsTer2)
c.79045dup (p.Ser26349PhefsTer2)
c.78904dup (p.Ser26302PhefsTer2)
c.104947dup (p.Ser34983PhefsTer2)
c.100345dup (p.Ser33449PhefsTer2)
c.100342dup (p.Ser33448PhefsTer2)
c.97384dup (p.Ser32462PhefsTer2)
c.79000dup (p.Ser26334PhefsTer2)
c.100495dup (p.Ser33499PhefsTer2)
c.100492dup (p.Ser33498PhefsTer2)
c.99925dup (p.Ser33309PhefsTer2)
c.97267dup (p.Ser32423PhefsTer2)
c.97186dup (p.Ser32396PhefsTer2)
c.78949dup (p.Ser26317PhefsTer2)
c.68803dup (p.Ser22935PhefsTer2)
 dbSNP
2g.178530562T>ACA349407134TTN,TTN-AS1c.98349A>T (p.Glu32783Asp)
c.79434A>T (p.Glu26478Asp)
c.79233A>T (p.Glu26411Asp)
c.78858A>T (p.Glu26286Asp)
c.106053A>T (p.Glu35351Asp)
c.101130A>T (p.Glu33710Asp)
n.446+6926T>A
n.220-5170T>A
c.105150A>T (p.Glu35050Asp)
c.79044A>T (p.Glu26348Asp)
c.78903A>T (p.Glu26301Asp)
c.104946A>T (p.Glu34982Asp)
c.100344A>T (p.Glu33448Asp)
c.100341A>T (p.Glu33447Asp)
c.97383A>T (p.Glu32461Asp)
c.78999A>T (p.Glu26333Asp)
c.100494A>T (p.Glu33498Asp)
c.100491A>T (p.Glu33497Asp)
c.99924A>T (p.Glu33308Asp)
c.97266A>T (p.Glu32422Asp)
c.97185A>T (p.Glu32395Asp)
c.78948A>T (p.Glu26316Asp)
c.68802A>T (p.Glu22934Asp)
2g.178530562T>CCA430235226TTN,TTN-AS1c.98349A>G (p.Glu32783=)
c.79434A>G (p.Glu26478=)
c.79233A>G (p.Glu26411=)
c.78858A>G (p.Glu26286=)
c.106053A>G (p.Glu35351=)
c.101130A>G (p.Glu33710=)
n.446+6926T>C
n.220-5170T>C
c.105150A>G (p.Glu35050=)
c.79044A>G (p.Glu26348=)
c.78903A>G (p.Glu26301=)
c.104946A>G (p.Glu34982=)
c.100344A>G (p.Glu33448=)
c.100341A>G (p.Glu33447=)
c.97383A>G (p.Glu32461=)
c.78999A>G (p.Glu26333=)
c.100494A>G (p.Glu33498=)
c.100491A>G (p.Glu33497=)
c.99924A>G (p.Glu33308=)
c.97266A>G (p.Glu32422=)
c.97185A>G (p.Glu32395=)
c.78948A>G (p.Glu26316=)
c.68802A>G (p.Glu22934=)
2g.178530562T>GCA349407135TTN,TTN-AS1c.98349A>C (p.Glu32783Asp)
c.79434A>C (p.Glu26478Asp)
c.79233A>C (p.Glu26411Asp)
c.78858A>C (p.Glu26286Asp)
c.106053A>C (p.Glu35351Asp)
c.101130A>C (p.Glu33710Asp)
n.446+6926T>G
n.220-5170T>G
c.105150A>C (p.Glu35050Asp)
c.79044A>C (p.Glu26348Asp)
c.78903A>C (p.Glu26301Asp)
c.104946A>C (p.Glu34982Asp)
c.100344A>C (p.Glu33448Asp)
c.100341A>C (p.Glu33447Asp)
c.97383A>C (p.Glu32461Asp)
c.78999A>C (p.Glu26333Asp)
c.100494A>C (p.Glu33498Asp)
c.100491A>C (p.Glu33497Asp)
c.99924A>C (p.Glu33308Asp)
c.97266A>C (p.Glu32422Asp)
c.97185A>C (p.Glu32395Asp)
c.78948A>C (p.Glu26316Asp)
c.68802A>C (p.Glu22934Asp)
2g.178530563delCA2017999286TTN,TTN-AS1c.98349del (p.Glu32783AspfsTer?)
c.79434del (p.Glu26478AspfsTer?)
c.79233del (p.Glu26411AspfsTer?)
c.78858del (p.Glu26286AspfsTer?)
c.106053del (p.Glu35351AspfsTer?)
c.101130del (p.Glu33710AspfsTer?)
n.446+6927del
n.220-5169del
c.105150del (p.Glu35050AspfsTer?)
c.79044del (p.Glu26348AspfsTer?)
c.78903del (p.Glu26301AspfsTer?)
c.104946del (p.Glu34982AspfsTer?)
c.100344del (p.Glu33448AspfsTer?)
c.100341del (p.Glu33447AspfsTer?)
c.97383del (p.Glu32461AspfsTer?)
c.78999del (p.Glu26333AspfsTer?)
c.100494del (p.Glu33498AspfsTer?)
c.100491del (p.Glu33497AspfsTer?)
c.99924del (p.Glu33308AspfsTer?)
c.97266del (p.Glu32422AspfsTer?)
c.97185del (p.Glu32395AspfsTer?)
c.78948del (p.Glu26316AspfsTer?)
c.68802del (p.Glu22934AspfsTer?)
2g.178530563T>ACA349407138TTN,TTN-AS1c.98348A>T (p.Glu32783Val)
c.79433A>T (p.Glu26478Val)
c.79232A>T (p.Glu26411Val)
c.78857A>T (p.Glu26286Val)
c.106052A>T (p.Glu35351Val)
c.101129A>T (p.Glu33710Val)
n.446+6927T>A
n.220-5169T>A
c.105149A>T (p.Glu35050Val)
c.79043A>T (p.Glu26348Val)
c.78902A>T (p.Glu26301Val)
c.104945A>T (p.Glu34982Val)
c.100343A>T (p.Glu33448Val)
c.100340A>T (p.Glu33447Val)
c.97382A>T (p.Glu32461Val)
c.78998A>T (p.Glu26333Val)
c.100493A>T (p.Glu33498Val)
c.100490A>T (p.Glu33497Val)
c.99923A>T (p.Glu33308Val)
c.97265A>T (p.Glu32422Val)
c.97184A>T (p.Glu32395Val)
c.78947A>T (p.Glu26316Val)
c.68801A>T (p.Glu22934Val)
2g.178530563T>CCA349407137TTN,TTN-AS1c.98348A>G (p.Glu32783Gly)
c.79433A>G (p.Glu26478Gly)
c.79232A>G (p.Glu26411Gly)
c.78857A>G (p.Glu26286Gly)
c.106052A>G (p.Glu35351Gly)
c.101129A>G (p.Glu33710Gly)
n.446+6927T>C
n.220-5169T>C
c.105149A>G (p.Glu35050Gly)
c.79043A>G (p.Glu26348Gly)
c.78902A>G (p.Glu26301Gly)
c.104945A>G (p.Glu34982Gly)
c.100343A>G (p.Glu33448Gly)
c.100340A>G (p.Glu33447Gly)
c.97382A>G (p.Glu32461Gly)
c.78998A>G (p.Glu26333Gly)
c.100493A>G (p.Glu33498Gly)
c.100490A>G (p.Glu33497Gly)
c.99923A>G (p.Glu33308Gly)
c.97265A>G (p.Glu32422Gly)
c.97184A>G (p.Glu32395Gly)
c.78947A>G (p.Glu26316Gly)
c.68801A>G (p.Glu22934Gly)
2g.178530563T>GCA349407136TTN,TTN-AS1c.98348A>C (p.Glu32783Ala)
c.79433A>C (p.Glu26478Ala)
c.79232A>C (p.Glu26411Ala)
c.78857A>C (p.Glu26286Ala)
c.106052A>C (p.Glu35351Ala)
c.101129A>C (p.Glu33710Ala)
n.446+6927T>G
n.220-5169T>G
c.105149A>C (p.Glu35050Ala)
c.79043A>C (p.Glu26348Ala)
c.78902A>C (p.Glu26301Ala)
c.104945A>C (p.Glu34982Ala)
c.100343A>C (p.Glu33448Ala)
c.100340A>C (p.Glu33447Ala)
c.97382A>C (p.Glu32461Ala)
c.78998A>C (p.Glu26333Ala)
c.100493A>C (p.Glu33498Ala)
c.100490A>C (p.Glu33497Ala)
c.99923A>C (p.Glu33308Ala)
c.97265A>C (p.Glu32422Ala)
c.97184A>C (p.Glu32395Ala)
c.78947A>C (p.Glu26316Ala)
c.68801A>C (p.Glu22934Ala)
2g.178530564delCA2586970742TTN,TTN-AS1c.98347del (p.Glu32783AsnfsTer?)
c.79432del (p.Glu26478AsnfsTer?)
c.79231del (p.Glu26411AsnfsTer?)
c.78856del (p.Glu26286AsnfsTer?)
c.106051del (p.Glu35351AsnfsTer?)
c.101128del (p.Glu33710AsnfsTer?)
n.446+6928del
n.220-5168del
c.105148del (p.Glu35050AsnfsTer?)
c.79042del (p.Glu26348AsnfsTer?)
c.78901del (p.Glu26301AsnfsTer?)
c.104944del (p.Glu34982AsnfsTer?)
c.100342del (p.Glu33448AsnfsTer?)
c.100339del (p.Glu33447AsnfsTer?)
c.97381del (p.Glu32461AsnfsTer?)
c.78997del (p.Glu26333AsnfsTer?)
c.100492del (p.Glu33498AsnfsTer?)
c.100489del (p.Glu33497AsnfsTer?)
c.99922del (p.Glu33308AsnfsTer?)
c.97264del (p.Glu32422AsnfsTer?)
c.97183del (p.Glu32395AsnfsTer?)
c.78946del (p.Glu26316AsnfsTer?)
c.68800del (p.Glu22934AsnfsTer?)
2g.178530564C>ACA349407139TTN,TTN-AS1c.98347G>T (p.Glu32783Ter)
c.79432G>T (p.Glu26478Ter)
c.79231G>T (p.Glu26411Ter)
c.78856G>T (p.Glu26286Ter)
c.106051G>T (p.Glu35351Ter)
c.101128G>T (p.Glu33710Ter)
n.446+6928C>A
n.220-5168C>A
c.105148G>T (p.Glu35050Ter)
c.79042G>T (p.Glu26348Ter)
c.78901G>T (p.Glu26301Ter)
c.104944G>T (p.Glu34982Ter)
c.100342G>T (p.Glu33448Ter)
c.100339G>T (p.Glu33447Ter)
c.97381G>T (p.Glu32461Ter)
c.78997G>T (p.Glu26333Ter)
c.100492G>T (p.Glu33498Ter)
c.100489G>T (p.Glu33497Ter)
c.99922G>T (p.Glu33308Ter)
c.97264G>T (p.Glu32422Ter)
c.97183G>T (p.Glu32395Ter)
c.78946G>T (p.Glu26316Ter)
c.68800G>T (p.Glu22934Ter)
2g.178530564C=CA1310514755TTN,TTN-AS1c.98347G= (p.Glu32783=)
c.79432G= (p.Glu26478=)
c.79231G= (p.Glu26411=)
c.78856G= (p.Glu26286=)
c.106051G= (p.Glu35351=)
c.101128G= (p.Glu33710=)
n.446+6928C=
n.220-5168C=
c.105148G= (p.Glu35050=)
c.79042G= (p.Glu26348=)
c.78901G= (p.Glu26301=)
c.104944G= (p.Glu34982=)
c.100342G= (p.Glu33448=)
c.100339G= (p.Glu33447=)
c.97381G= (p.Glu32461=)
c.78997G= (p.Glu26333=)
c.100492G= (p.Glu33498=)
c.100489G= (p.Glu33497=)
c.99922G= (p.Glu33308=)
c.97264G= (p.Glu32422=)
c.97183G= (p.Glu32395=)
c.78946G= (p.Glu26316=)
c.68800G= (p.Glu22934=)
2g.178530564C>GCA349407140TTN,TTN-AS1c.98347G>C (p.Glu32783Gln)
c.79432G>C (p.Glu26478Gln)
c.79231G>C (p.Glu26411Gln)
c.78856G>C (p.Glu26286Gln)
c.106051G>C (p.Glu35351Gln)
c.101128G>C (p.Glu33710Gln)
n.446+6928C>G
n.220-5168C>G
c.105148G>C (p.Glu35050Gln)
c.79042G>C (p.Glu26348Gln)
c.78901G>C (p.Glu26301Gln)
c.104944G>C (p.Glu34982Gln)
c.100342G>C (p.Glu33448Gln)
c.100339G>C (p.Glu33447Gln)
c.97381G>C (p.Glu32461Gln)
c.78997G>C (p.Glu26333Gln)
c.100492G>C (p.Glu33498Gln)
c.100489G>C (p.Glu33497Gln)
c.99922G>C (p.Glu33308Gln)
c.97264G>C (p.Glu32422Gln)
c.97183G>C (p.Glu32395Gln)
c.78946G>C (p.Glu26316Gln)
c.68800G>C (p.Glu22934Gln)
 dbSNP gnomAD v3 gnomAD v4
2g.178530564C>TCA349407141TTN,TTN-AS1c.98347G>A (p.Glu32783Lys)
c.79432G>A (p.Glu26478Lys)
c.79231G>A (p.Glu26411Lys)
c.78856G>A (p.Glu26286Lys)
c.106051G>A (p.Glu35351Lys)
c.101128G>A (p.Glu33710Lys)
n.446+6928C>T
n.220-5168C>T
c.105148G>A (p.Glu35050Lys)
c.79042G>A (p.Glu26348Lys)
c.78901G>A (p.Glu26301Lys)
c.104944G>A (p.Glu34982Lys)
c.100342G>A (p.Glu33448Lys)
c.100339G>A (p.Glu33447Lys)
c.97381G>A (p.Glu32461Lys)
c.78997G>A (p.Glu26333Lys)
c.100492G>A (p.Glu33498Lys)
c.100489G>A (p.Glu33497Lys)
c.99922G>A (p.Glu33308Lys)
c.97264G>A (p.Glu32422Lys)
c.97183G>A (p.Glu32395Lys)
c.78946G>A (p.Glu26316Lys)
c.68800G>A (p.Glu22934Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178530565delCA2586970743TTN,TTN-AS1c.98346del (p.Glu32783AsnfsTer?)
c.79431del (p.Glu26478AsnfsTer?)
c.79230del (p.Glu26411AsnfsTer?)
c.78855del (p.Glu26286AsnfsTer?)
c.106050del (p.Glu35351AsnfsTer?)
c.101127del (p.Glu33710AsnfsTer?)
n.446+6929del
n.220-5167del
c.105147del (p.Glu35050AsnfsTer?)
c.79041del (p.Glu26348AsnfsTer?)
c.78900del (p.Glu26301AsnfsTer?)
c.104943del (p.Glu34982AsnfsTer?)
c.100341del (p.Glu33448AsnfsTer?)
c.100338del (p.Glu33447AsnfsTer?)
c.97380del (p.Glu32461AsnfsTer?)
c.78996del (p.Glu26333AsnfsTer?)
c.100491del (p.Glu33498AsnfsTer?)
c.100488del (p.Glu33497AsnfsTer?)
c.99921del (p.Glu33308AsnfsTer?)
c.97263del (p.Glu32422AsnfsTer?)
c.97182del (p.Glu32395AsnfsTer?)
c.78945del (p.Glu26316AsnfsTer?)
c.68799del (p.Glu22934AsnfsTer?)
2g.178530565A=CA1310514758TTN,TTN-AS1c.98346T= (p.Thr32782=)
c.79431T= (p.Thr26477=)
c.79230T= (p.Thr26410=)
c.78855T= (p.Thr26285=)
c.106050T= (p.Thr35350=)
c.101127T= (p.Thr33709=)
n.446+6929A=
n.220-5167A=
c.105147T= (p.Thr35049=)
c.79041T= (p.Thr26347=)
c.78900T= (p.Thr26300=)
c.104943T= (p.Thr34981=)
c.100341T= (p.Thr33447=)
c.100338T= (p.Thr33446=)
c.97380T= (p.Thr32460=)
c.78996T= (p.Thr26332=)
c.100491T= (p.Thr33497=)
c.100488T= (p.Thr33496=)
c.99921T= (p.Thr33307=)
c.97263T= (p.Thr32421=)
c.97182T= (p.Thr32394=)
c.78945T= (p.Thr26315=)
c.68799T= (p.Thr22933=)
2g.178530565A>CCA430235408TTN,TTN-AS1c.98346T>G (p.Thr32782=)
c.79431T>G (p.Thr26477=)
c.79230T>G (p.Thr26410=)
c.78855T>G (p.Thr26285=)
c.106050T>G (p.Thr35350=)
c.101127T>G (p.Thr33709=)
n.446+6929A>C
n.220-5167A>C
c.105147T>G (p.Thr35049=)
c.79041T>G (p.Thr26347=)
c.78900T>G (p.Thr26300=)
c.104943T>G (p.Thr34981=)
c.100341T>G (p.Thr33447=)
c.100338T>G (p.Thr33446=)
c.97380T>G (p.Thr32460=)
c.78996T>G (p.Thr26332=)
c.100491T>G (p.Thr33497=)
c.100488T>G (p.Thr33496=)
c.99921T>G (p.Thr33307=)
c.97263T>G (p.Thr32421=)
c.97182T>G (p.Thr32394=)
c.78945T>G (p.Thr26315=)
c.68799T>G (p.Thr22933=)
 dbSNP gnomAD v2 gnomAD v4
2g.178530565A>GCA430235409TTN,TTN-AS1c.98346T>C (p.Thr32782=)
c.79431T>C (p.Thr26477=)
c.79230T>C (p.Thr26410=)
c.78855T>C (p.Thr26285=)
c.106050T>C (p.Thr35350=)
c.101127T>C (p.Thr33709=)
n.446+6929A>G
n.220-5167A>G
c.105147T>C (p.Thr35049=)
c.79041T>C (p.Thr26347=)
c.78900T>C (p.Thr26300=)
c.104943T>C (p.Thr34981=)
c.100341T>C (p.Thr33447=)
c.100338T>C (p.Thr33446=)
c.97380T>C (p.Thr32460=)
c.78996T>C (p.Thr26332=)
c.100491T>C (p.Thr33497=)
c.100488T>C (p.Thr33496=)
c.99921T>C (p.Thr33307=)
c.97263T>C (p.Thr32421=)
c.97182T>C (p.Thr32394=)
c.78945T>C (p.Thr26315=)
c.68799T>C (p.Thr22933=)
 dbSNP
2g.178530565A>TCA430235410TTN,TTN-AS1c.98346T>A (p.Thr32782=)
c.79431T>A (p.Thr26477=)
c.79230T>A (p.Thr26410=)
c.78855T>A (p.Thr26285=)
c.106050T>A (p.Thr35350=)
c.101127T>A (p.Thr33709=)
n.446+6929A>T
n.220-5167A>T
c.105147T>A (p.Thr35049=)
c.79041T>A (p.Thr26347=)
c.78900T>A (p.Thr26300=)
c.104943T>A (p.Thr34981=)
c.100341T>A (p.Thr33447=)
c.100338T>A (p.Thr33446=)
c.97380T>A (p.Thr32460=)
c.78996T>A (p.Thr26332=)
c.100491T>A (p.Thr33497=)
c.100488T>A (p.Thr33496=)
c.99921T>A (p.Thr33307=)
c.97263T>A (p.Thr32421=)
c.97182T>A (p.Thr32394=)
c.78945T>A (p.Thr26315=)
c.68799T>A (p.Thr22933=)
2g.178530565_178530566delinsAGCA1310514757TTN,TTN-AS1c.98345_98346delinsCT (p.Thr32782=)
c.79430_79431delinsCT (p.Thr26477=)
c.79229_79230delinsCT (p.Thr26410=)
c.78854_78855delinsCT (p.Thr26285=)
c.106049_106050delinsCT (p.Thr35350=)
c.101126_101127delinsCT (p.Thr33709=)
n.446+6929_446+6930delinsAG
n.220-5167_220-5166delinsAG
c.105146_105147delinsCT (p.Thr35049=)
c.79040_79041delinsCT (p.Thr26347=)
c.78899_78900delinsCT (p.Thr26300=)
c.104942_104943delinsCT (p.Thr34981=)
c.100340_100341delinsCT (p.Thr33447=)
c.100337_100338delinsCT (p.Thr33446=)
c.97379_97380delinsCT (p.Thr32460=)
c.78995_78996delinsCT (p.Thr26332=)
c.100490_100491delinsCT (p.Thr33497=)
c.100487_100488delinsCT (p.Thr33496=)
c.99920_99921delinsCT (p.Thr33307=)
c.97262_97263delinsCT (p.Thr32421=)
c.97181_97182delinsCT (p.Thr32394=)
c.78944_78945delinsCT (p.Thr26315=)
c.68798_68799delinsCT (p.Thr22933=)
2g.178530566delCA658795975TTN,TTN-AS1c.98345del (p.Thr32782MetfsTer?)
c.79430del (p.Thr26477MetfsTer?)
c.79229del (p.Thr26410MetfsTer?)
c.78854del (p.Thr26285MetfsTer?)
c.106049del (p.Thr35350MetfsTer?)
c.101126del (p.Thr33709MetfsTer?)
n.446+6930del
n.220-5166del
c.105146del (p.Thr35049MetfsTer?)
c.79040del (p.Thr26347MetfsTer?)
c.78899del (p.Thr26300MetfsTer?)
c.104942del (p.Thr34981MetfsTer?)
c.100340del (p.Thr33447MetfsTer?)
c.100337del (p.Thr33446MetfsTer?)
c.97379del (p.Thr32460MetfsTer?)
c.78995del (p.Thr26332MetfsTer?)
c.100490del (p.Thr33497MetfsTer?)
c.100487del (p.Thr33496MetfsTer?)
c.99920del (p.Thr33307MetfsTer?)
c.97262del (p.Thr32421MetfsTer?)
c.97181del (p.Thr32394MetfsTer?)
c.78944del (p.Thr26315MetfsTer?)
c.68798del (p.Thr22933MetfsTer?)
 ClinVar dbSNP gnomAD v4
2g.178530566G>ACA349407142TTN,TTN-AS1c.98345C>T (p.Thr32782Ile)
c.79430C>T (p.Thr26477Ile)
c.79229C>T (p.Thr26410Ile)
c.78854C>T (p.Thr26285Ile)
c.106049C>T (p.Thr35350Ile)
c.101126C>T (p.Thr33709Ile)
n.446+6930G>A
n.220-5166G>A
c.105146C>T (p.Thr35049Ile)
c.79040C>T (p.Thr26347Ile)
c.78899C>T (p.Thr26300Ile)
c.104942C>T (p.Thr34981Ile)
c.100340C>T (p.Thr33447Ile)
c.100337C>T (p.Thr33446Ile)
c.97379C>T (p.Thr32460Ile)
c.78995C>T (p.Thr26332Ile)
c.100490C>T (p.Thr33497Ile)
c.100487C>T (p.Thr33496Ile)
c.99920C>T (p.Thr33307Ile)
c.97262C>T (p.Thr32421Ile)
c.97181C>T (p.Thr32394Ile)
c.78944C>T (p.Thr26315Ile)
c.68798C>T (p.Thr22933Ile)
 ClinVar dbSNP gnomAD v4
2g.178530566G>CCA349407143TTN,TTN-AS1c.98345C>G (p.Thr32782Ser)
c.79430C>G (p.Thr26477Ser)
c.79229C>G (p.Thr26410Ser)
c.78854C>G (p.Thr26285Ser)
c.106049C>G (p.Thr35350Ser)
c.101126C>G (p.Thr33709Ser)
n.446+6930G>C
n.220-5166G>C
c.105146C>G (p.Thr35049Ser)
c.79040C>G (p.Thr26347Ser)
c.78899C>G (p.Thr26300Ser)
c.104942C>G (p.Thr34981Ser)
c.100340C>G (p.Thr33447Ser)
c.100337C>G (p.Thr33446Ser)
c.97379C>G (p.Thr32460Ser)
c.78995C>G (p.Thr26332Ser)
c.100490C>G (p.Thr33497Ser)
c.100487C>G (p.Thr33496Ser)
c.99920C>G (p.Thr33307Ser)
c.97262C>G (p.Thr32421Ser)
c.97181C>G (p.Thr32394Ser)
c.78944C>G (p.Thr26315Ser)
c.68798C>G (p.Thr22933Ser)
2g.178530566G=CA1310514761TTN,TTN-AS1c.98345C= (p.Thr32782=)
c.79430C= (p.Thr26477=)
c.79229C= (p.Thr26410=)
c.78854C= (p.Thr26285=)
c.106049C= (p.Thr35350=)
c.101126C= (p.Thr33709=)
n.446+6930G=
n.220-5166G=
c.105146C= (p.Thr35049=)
c.79040C= (p.Thr26347=)
c.78899C= (p.Thr26300=)
c.104942C= (p.Thr34981=)
c.100340C= (p.Thr33447=)
c.100337C= (p.Thr33446=)
c.97379C= (p.Thr32460=)
c.78995C= (p.Thr26332=)
c.100490C= (p.Thr33497=)
c.100487C= (p.Thr33496=)
c.99920C= (p.Thr33307=)
c.97262C= (p.Thr32421=)
c.97181C= (p.Thr32394=)
c.78944C= (p.Thr26315=)
c.68798C= (p.Thr22933=)
2g.178530566G>TCA349407144TTN,TTN-AS1c.98345C>A (p.Thr32782Asn)
c.79430C>A (p.Thr26477Asn)
c.79229C>A (p.Thr26410Asn)
c.78854C>A (p.Thr26285Asn)
c.106049C>A (p.Thr35350Asn)
c.101126C>A (p.Thr33709Asn)
n.446+6930G>T
n.220-5166G>T
c.105146C>A (p.Thr35049Asn)
c.79040C>A (p.Thr26347Asn)
c.78899C>A (p.Thr26300Asn)
c.104942C>A (p.Thr34981Asn)
c.100340C>A (p.Thr33447Asn)
c.100337C>A (p.Thr33446Asn)
c.97379C>A (p.Thr32460Asn)
c.78995C>A (p.Thr26332Asn)
c.100490C>A (p.Thr33497Asn)
c.100487C>A (p.Thr33496Asn)
c.99920C>A (p.Thr33307Asn)
c.97262C>A (p.Thr32421Asn)
c.97181C>A (p.Thr32394Asn)
c.78944C>A (p.Thr26315Asn)
c.68798C>A (p.Thr22933Asn)
2g.178530567T>ACA349407145TTN,TTN-AS1c.98344A>T (p.Thr32782Ser)
c.79429A>T (p.Thr26477Ser)
c.79228A>T (p.Thr26410Ser)
c.78853A>T (p.Thr26285Ser)
c.106048A>T (p.Thr35350Ser)
c.101125A>T (p.Thr33709Ser)
n.446+6931T>A
n.220-5165T>A
c.105145A>T (p.Thr35049Ser)
c.79039A>T (p.Thr26347Ser)
c.78898A>T (p.Thr26300Ser)
c.104941A>T (p.Thr34981Ser)
c.100339A>T (p.Thr33447Ser)
c.100336A>T (p.Thr33446Ser)
c.97378A>T (p.Thr32460Ser)
c.78994A>T (p.Thr26332Ser)
c.100489A>T (p.Thr33497Ser)
c.100486A>T (p.Thr33496Ser)
c.99919A>T (p.Thr33307Ser)
c.97261A>T (p.Thr32421Ser)
c.97180A>T (p.Thr32394Ser)
c.78943A>T (p.Thr26315Ser)
c.68797A>T (p.Thr22933Ser)
2g.178530567T>CCA349407147TTN,TTN-AS1c.98344A>G (p.Thr32782Ala)
c.79429A>G (p.Thr26477Ala)
c.79228A>G (p.Thr26410Ala)
c.78853A>G (p.Thr26285Ala)
c.106048A>G (p.Thr35350Ala)
c.101125A>G (p.Thr33709Ala)
n.446+6931T>C
n.220-5165T>C
c.105145A>G (p.Thr35049Ala)
c.79039A>G (p.Thr26347Ala)
c.78898A>G (p.Thr26300Ala)
c.104941A>G (p.Thr34981Ala)
c.100339A>G (p.Thr33447Ala)
c.100336A>G (p.Thr33446Ala)
c.97378A>G (p.Thr32460Ala)
c.78994A>G (p.Thr26332Ala)
c.100489A>G (p.Thr33497Ala)
c.100486A>G (p.Thr33496Ala)
c.99919A>G (p.Thr33307Ala)
c.97261A>G (p.Thr32421Ala)
c.97180A>G (p.Thr32394Ala)
c.78943A>G (p.Thr26315Ala)
c.68797A>G (p.Thr22933Ala)
2g.178530567T>GCA349407146TTN,TTN-AS1c.98344A>C (p.Thr32782Pro)
c.79429A>C (p.Thr26477Pro)
c.79228A>C (p.Thr26410Pro)
c.78853A>C (p.Thr26285Pro)
c.106048A>C (p.Thr35350Pro)
c.101125A>C (p.Thr33709Pro)
n.446+6931T>G
n.220-5165T>G
c.105145A>C (p.Thr35049Pro)
c.79039A>C (p.Thr26347Pro)
c.78898A>C (p.Thr26300Pro)
c.104941A>C (p.Thr34981Pro)
c.100339A>C (p.Thr33447Pro)
c.100336A>C (p.Thr33446Pro)
c.97378A>C (p.Thr32460Pro)
c.78994A>C (p.Thr26332Pro)
c.100489A>C (p.Thr33497Pro)
c.100486A>C (p.Thr33496Pro)
c.99919A>C (p.Thr33307Pro)
c.97261A>C (p.Thr32421Pro)
c.97180A>C (p.Thr32394Pro)
c.78943A>C (p.Thr26315Pro)
c.68797A>C (p.Thr22933Pro)
2g.178530568G>ACA430235418TTN,TTN-AS1c.98343C>T (p.Leu32781=)
c.79428C>T (p.Leu26476=)
c.79227C>T (p.Leu26409=)
c.78852C>T (p.Leu26284=)
c.106047C>T (p.Leu35349=)
c.101124C>T (p.Leu33708=)
n.446+6932G>A
n.220-5164G>A
c.105144C>T (p.Leu35048=)
c.79038C>T (p.Leu26346=)
c.78897C>T (p.Leu26299=)
c.104940C>T (p.Leu34980=)
c.100338C>T (p.Leu33446=)
c.100335C>T (p.Leu33445=)
c.97377C>T (p.Leu32459=)
c.78993C>T (p.Leu26331=)
c.100488C>T (p.Leu33496=)
c.100485C>T (p.Leu33495=)
c.99918C>T (p.Leu33306=)
c.97260C>T (p.Leu32420=)
c.97179C>T (p.Leu32393=)
c.78942C>T (p.Leu26314=)
c.68796C>T (p.Leu22932=)
2g.178530568G>CCA430235420TTN,TTN-AS1c.98343C>G (p.Leu32781=)
c.79428C>G (p.Leu26476=)
c.79227C>G (p.Leu26409=)
c.78852C>G (p.Leu26284=)
c.106047C>G (p.Leu35349=)
c.101124C>G (p.Leu33708=)
n.446+6932G>C
n.220-5164G>C
c.105144C>G (p.Leu35048=)
c.79038C>G (p.Leu26346=)
c.78897C>G (p.Leu26299=)
c.104940C>G (p.Leu34980=)
c.100338C>G (p.Leu33446=)
c.100335C>G (p.Leu33445=)
c.97377C>G (p.Leu32459=)
c.78993C>G (p.Leu26331=)
c.100488C>G (p.Leu33496=)
c.100485C>G (p.Leu33495=)
c.99918C>G (p.Leu33306=)
c.97260C>G (p.Leu32420=)
c.97179C>G (p.Leu32393=)
c.78942C>G (p.Leu26314=)
c.68796C>G (p.Leu22932=)
2g.178530568G=CA1310514762TTN,TTN-AS1c.98343C= (p.Leu32781=)
c.79428C= (p.Leu26476=)
c.79227C= (p.Leu26409=)
c.78852C= (p.Leu26284=)
c.106047C= (p.Leu35349=)
c.101124C= (p.Leu33708=)
n.446+6932G=
n.220-5164G=
c.105144C= (p.Leu35048=)
c.79038C= (p.Leu26346=)
c.78897C= (p.Leu26299=)
c.104940C= (p.Leu34980=)
c.100338C= (p.Leu33446=)
c.100335C= (p.Leu33445=)
c.97377C= (p.Leu32459=)
c.78993C= (p.Leu26331=)
c.100488C= (p.Leu33496=)
c.100485C= (p.Leu33495=)
c.99918C= (p.Leu33306=)
c.97260C= (p.Leu32420=)
c.97179C= (p.Leu32393=)
c.78942C= (p.Leu26314=)
c.68796C= (p.Leu22932=)
2g.178530568G>TCA1985171TTN,TTN-AS1c.98343C>A (p.Leu32781=)
c.79428C>A (p.Leu26476=)
c.79227C>A (p.Leu26409=)
c.78852C>A (p.Leu26284=)
c.106047C>A (p.Leu35349=)
c.101124C>A (p.Leu33708=)
n.446+6932G>T
n.220-5164G>T
c.105144C>A (p.Leu35048=)
c.79038C>A (p.Leu26346=)
c.78897C>A (p.Leu26299=)
c.104940C>A (p.Leu34980=)
c.100338C>A (p.Leu33446=)
c.100335C>A (p.Leu33445=)
c.97377C>A (p.Leu32459=)
c.78993C>A (p.Leu26331=)
c.100488C>A (p.Leu33496=)
c.100485C>A (p.Leu33495=)
c.99918C>A (p.Leu33306=)
c.97260C>A (p.Leu32420=)
c.97179C>A (p.Leu32393=)
c.78942C>A (p.Leu26314=)
c.68796C>A (p.Leu22932=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530569A>CCA349407148TTN,TTN-AS1c.98342T>G (p.Leu32781Arg)
c.79427T>G (p.Leu26476Arg)
c.79226T>G (p.Leu26409Arg)
c.78851T>G (p.Leu26284Arg)
c.106046T>G (p.Leu35349Arg)
c.101123T>G (p.Leu33708Arg)
n.446+6933A>C
n.220-5163A>C
c.105143T>G (p.Leu35048Arg)
c.79037T>G (p.Leu26346Arg)
c.78896T>G (p.Leu26299Arg)
c.104939T>G (p.Leu34980Arg)
c.100337T>G (p.Leu33446Arg)
c.100334T>G (p.Leu33445Arg)
c.97376T>G (p.Leu32459Arg)
c.78992T>G (p.Leu26331Arg)
c.100487T>G (p.Leu33496Arg)
c.100484T>G (p.Leu33495Arg)
c.99917T>G (p.Leu33306Arg)
c.97259T>G (p.Leu32420Arg)
c.97178T>G (p.Leu32393Arg)
c.78941T>G (p.Leu26314Arg)
c.68795T>G (p.Leu22932Arg)
2g.178530569A>GCA349407149TTN,TTN-AS1c.98342T>C (p.Leu32781Pro)
c.79427T>C (p.Leu26476Pro)
c.79226T>C (p.Leu26409Pro)
c.78851T>C (p.Leu26284Pro)
c.106046T>C (p.Leu35349Pro)
c.101123T>C (p.Leu33708Pro)
n.446+6933A>G
n.220-5163A>G
c.105143T>C (p.Leu35048Pro)
c.79037T>C (p.Leu26346Pro)
c.78896T>C (p.Leu26299Pro)
c.104939T>C (p.Leu34980Pro)
c.100337T>C (p.Leu33446Pro)
c.100334T>C (p.Leu33445Pro)
c.97376T>C (p.Leu32459Pro)
c.78992T>C (p.Leu26331Pro)
c.100487T>C (p.Leu33496Pro)
c.100484T>C (p.Leu33495Pro)
c.99917T>C (p.Leu33306Pro)
c.97259T>C (p.Leu32420Pro)
c.97178T>C (p.Leu32393Pro)
c.78941T>C (p.Leu26314Pro)
c.68795T>C (p.Leu22932Pro)
 ClinVar
2g.178530569A>TCA349407150TTN,TTN-AS1c.98342T>A (p.Leu32781His)
c.79427T>A (p.Leu26476His)
c.79226T>A (p.Leu26409His)
c.78851T>A (p.Leu26284His)
c.106046T>A (p.Leu35349His)
c.101123T>A (p.Leu33708His)
n.446+6933A>T
n.220-5163A>T
c.105143T>A (p.Leu35048His)
c.79037T>A (p.Leu26346His)
c.78896T>A (p.Leu26299His)
c.104939T>A (p.Leu34980His)
c.100337T>A (p.Leu33446His)
c.100334T>A (p.Leu33445His)
c.97376T>A (p.Leu32459His)
c.78992T>A (p.Leu26331His)
c.100487T>A (p.Leu33496His)
c.100484T>A (p.Leu33495His)
c.99917T>A (p.Leu33306His)
c.97259T>A (p.Leu32420His)
c.97178T>A (p.Leu32393His)
c.78941T>A (p.Leu26314His)
c.68795T>A (p.Leu22932His)
2g.178530570G>ACA349407151TTN,TTN-AS1c.98341C>T (p.Leu32781Phe)
c.79426C>T (p.Leu26476Phe)
c.79225C>T (p.Leu26409Phe)
c.78850C>T (p.Leu26284Phe)
c.106045C>T (p.Leu35349Phe)
c.101122C>T (p.Leu33708Phe)
n.446+6934G>A
n.220-5162G>A
c.105142C>T (p.Leu35048Phe)
c.79036C>T (p.Leu26346Phe)
c.78895C>T (p.Leu26299Phe)
c.104938C>T (p.Leu34980Phe)
c.100336C>T (p.Leu33446Phe)
c.100333C>T (p.Leu33445Phe)
c.97375C>T (p.Leu32459Phe)
c.78991C>T (p.Leu26331Phe)
c.100486C>T (p.Leu33496Phe)
c.100483C>T (p.Leu33495Phe)
c.99916C>T (p.Leu33306Phe)
c.97258C>T (p.Leu32420Phe)
c.97177C>T (p.Leu32393Phe)
c.78940C>T (p.Leu26314Phe)
c.68794C>T (p.Leu22932Phe)
 dbSNP gnomAD v3 gnomAD v4
2g.178530570G>CCA349407152TTN,TTN-AS1c.98341C>G (p.Leu32781Val)
c.79426C>G (p.Leu26476Val)
c.79225C>G (p.Leu26409Val)
c.78850C>G (p.Leu26284Val)
c.106045C>G (p.Leu35349Val)
c.101122C>G (p.Leu33708Val)
n.446+6934G>C
n.220-5162G>C
c.105142C>G (p.Leu35048Val)
c.79036C>G (p.Leu26346Val)
c.78895C>G (p.Leu26299Val)
c.104938C>G (p.Leu34980Val)
c.100336C>G (p.Leu33446Val)
c.100333C>G (p.Leu33445Val)
c.97375C>G (p.Leu32459Val)
c.78991C>G (p.Leu26331Val)
c.100486C>G (p.Leu33496Val)
c.100483C>G (p.Leu33495Val)
c.99916C>G (p.Leu33306Val)
c.97258C>G (p.Leu32420Val)
c.97177C>G (p.Leu32393Val)
c.78940C>G (p.Leu26314Val)
c.68794C>G (p.Leu22932Val)
2g.178530570G=CA1310514765TTN,TTN-AS1c.98341C= (p.Leu32781=)
c.79426C= (p.Leu26476=)
c.79225C= (p.Leu26409=)
c.78850C= (p.Leu26284=)
c.106045C= (p.Leu35349=)
c.101122C= (p.Leu33708=)
n.446+6934G=
n.220-5162G=
c.105142C= (p.Leu35048=)
c.79036C= (p.Leu26346=)
c.78895C= (p.Leu26299=)
c.104938C= (p.Leu34980=)
c.100336C= (p.Leu33446=)
c.100333C= (p.Leu33445=)
c.97375C= (p.Leu32459=)
c.78991C= (p.Leu26331=)
c.100486C= (p.Leu33496=)
c.100483C= (p.Leu33495=)
c.99916C= (p.Leu33306=)
c.97258C= (p.Leu32420=)
c.97177C= (p.Leu32393=)
c.78940C= (p.Leu26314=)
c.68794C= (p.Leu22932=)
2g.178530570G>TCA349407153TTN,TTN-AS1c.98341C>A (p.Leu32781Ile)
c.79426C>A (p.Leu26476Ile)
c.79225C>A (p.Leu26409Ile)
c.78850C>A (p.Leu26284Ile)
c.106045C>A (p.Leu35349Ile)
c.101122C>A (p.Leu33708Ile)
n.446+6934G>T
n.220-5162G>T
c.105142C>A (p.Leu35048Ile)
c.79036C>A (p.Leu26346Ile)
c.78895C>A (p.Leu26299Ile)
c.104938C>A (p.Leu34980Ile)
c.100336C>A (p.Leu33446Ile)
c.100333C>A (p.Leu33445Ile)
c.97375C>A (p.Leu32459Ile)
c.78991C>A (p.Leu26331Ile)
c.100486C>A (p.Leu33496Ile)
c.100483C>A (p.Leu33495Ile)
c.99916C>A (p.Leu33306Ile)
c.97258C>A (p.Leu32420Ile)
c.97177C>A (p.Leu32393Ile)
c.78940C>A (p.Leu26314Ile)
c.68794C>A (p.Leu22932Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178530571G>ACA1985173TTN,TTN-AS1c.98340C>T (p.Asn32780=)
c.79425C>T (p.Asn26475=)
c.79224C>T (p.Asn26408=)
c.78849C>T (p.Asn26283=)
c.106044C>T (p.Asn35348=)
c.101121C>T (p.Asn33707=)
n.446+6935G>A
n.220-5161G>A
c.105141C>T (p.Asn35047=)
c.79035C>T (p.Asn26345=)
c.78894C>T (p.Asn26298=)
c.104937C>T (p.Asn34979=)
c.100335C>T (p.Asn33445=)
c.100332C>T (p.Asn33444=)
c.97374C>T (p.Asn32458=)
c.78990C>T (p.Asn26330=)
c.100485C>T (p.Asn33495=)
c.100482C>T (p.Asn33494=)
c.99915C>T (p.Asn33305=)
c.97257C>T (p.Asn32419=)
c.97176C>T (p.Asn32392=)
c.78939C>T (p.Asn26313=)
c.68793C>T (p.Asn22931=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530571G>CCA349407154TTN,TTN-AS1c.98340C>G (p.Asn32780Lys)
c.79425C>G (p.Asn26475Lys)
c.79224C>G (p.Asn26408Lys)
c.78849C>G (p.Asn26283Lys)
c.106044C>G (p.Asn35348Lys)
c.101121C>G (p.Asn33707Lys)
n.446+6935G>C
n.220-5161G>C
c.105141C>G (p.Asn35047Lys)
c.79035C>G (p.Asn26345Lys)
c.78894C>G (p.Asn26298Lys)
c.104937C>G (p.Asn34979Lys)
c.100335C>G (p.Asn33445Lys)
c.100332C>G (p.Asn33444Lys)
c.97374C>G (p.Asn32458Lys)
c.78990C>G (p.Asn26330Lys)
c.100485C>G (p.Asn33495Lys)
c.100482C>G (p.Asn33494Lys)
c.99915C>G (p.Asn33305Lys)
c.97257C>G (p.Asn32419Lys)
c.97176C>G (p.Asn32392Lys)
c.78939C>G (p.Asn26313Lys)
c.68793C>G (p.Asn22931Lys)
2g.178530571G=CA1310514767TTN,TTN-AS1c.98340C= (p.Asn32780=)
c.79425C= (p.Asn26475=)
c.79224C= (p.Asn26408=)
c.78849C= (p.Asn26283=)
c.106044C= (p.Asn35348=)
c.101121C= (p.Asn33707=)
n.446+6935G=
n.220-5161G=
c.105141C= (p.Asn35047=)
c.79035C= (p.Asn26345=)
c.78894C= (p.Asn26298=)
c.104937C= (p.Asn34979=)
c.100335C= (p.Asn33445=)
c.100332C= (p.Asn33444=)
c.97374C= (p.Asn32458=)
c.78990C= (p.Asn26330=)
c.100485C= (p.Asn33495=)
c.100482C= (p.Asn33494=)
c.99915C= (p.Asn33305=)
c.97257C= (p.Asn32419=)
c.97176C= (p.Asn32392=)
c.78939C= (p.Asn26313=)
c.68793C= (p.Asn22931=)
2g.178530571G>TCA1985172TTN,TTN-AS1c.98340C>A (p.Asn32780Lys)
c.79425C>A (p.Asn26475Lys)
c.79224C>A (p.Asn26408Lys)
c.78849C>A (p.Asn26283Lys)
c.106044C>A (p.Asn35348Lys)
c.101121C>A (p.Asn33707Lys)
n.446+6935G>T
n.220-5161G>T
c.105141C>A (p.Asn35047Lys)
c.79035C>A (p.Asn26345Lys)
c.78894C>A (p.Asn26298Lys)
c.104937C>A (p.Asn34979Lys)
c.100335C>A (p.Asn33445Lys)
c.100332C>A (p.Asn33444Lys)
c.97374C>A (p.Asn32458Lys)
c.78990C>A (p.Asn26330Lys)
c.100485C>A (p.Asn33495Lys)
c.100482C>A (p.Asn33494Lys)
c.99915C>A (p.Asn33305Lys)
c.97257C>A (p.Asn32419Lys)
c.97176C>A (p.Asn32392Lys)
c.78939C>A (p.Asn26313Lys)
c.68793C>A (p.Asn22931Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530572T>ACA349407157TTN,TTN-AS1c.98339A>T (p.Asn32780Ile)
c.79424A>T (p.Asn26475Ile)
c.79223A>T (p.Asn26408Ile)
c.78848A>T (p.Asn26283Ile)
c.106043A>T (p.Asn35348Ile)
c.101120A>T (p.Asn33707Ile)
n.446+6936T>A
n.220-5160T>A
c.105140A>T (p.Asn35047Ile)
c.79034A>T (p.Asn26345Ile)
c.78893A>T (p.Asn26298Ile)
c.104936A>T (p.Asn34979Ile)
c.100334A>T (p.Asn33445Ile)
c.100331A>T (p.Asn33444Ile)
c.97373A>T (p.Asn32458Ile)
c.78989A>T (p.Asn26330Ile)
c.100484A>T (p.Asn33495Ile)
c.100481A>T (p.Asn33494Ile)
c.99914A>T (p.Asn33305Ile)
c.97256A>T (p.Asn32419Ile)
c.97175A>T (p.Asn32392Ile)
c.78938A>T (p.Asn26313Ile)
c.68792A>T (p.Asn22931Ile)
2g.178530572T>CCA349407156TTN,TTN-AS1c.98339A>G (p.Asn32780Ser)
c.79424A>G (p.Asn26475Ser)
c.79223A>G (p.Asn26408Ser)
c.78848A>G (p.Asn26283Ser)
c.106043A>G (p.Asn35348Ser)
c.101120A>G (p.Asn33707Ser)
n.446+6936T>C
n.220-5160T>C
c.105140A>G (p.Asn35047Ser)
c.79034A>G (p.Asn26345Ser)
c.78893A>G (p.Asn26298Ser)
c.104936A>G (p.Asn34979Ser)
c.100334A>G (p.Asn33445Ser)
c.100331A>G (p.Asn33444Ser)
c.97373A>G (p.Asn32458Ser)
c.78989A>G (p.Asn26330Ser)
c.100484A>G (p.Asn33495Ser)
c.100481A>G (p.Asn33494Ser)
c.99914A>G (p.Asn33305Ser)
c.97256A>G (p.Asn32419Ser)
c.97175A>G (p.Asn32392Ser)
c.78938A>G (p.Asn26313Ser)
c.68792A>G (p.Asn22931Ser)
 ClinVar
2g.178530572T>GCA349407155TTN,TTN-AS1c.98339A>C (p.Asn32780Thr)
c.79424A>C (p.Asn26475Thr)
c.79223A>C (p.Asn26408Thr)
c.78848A>C (p.Asn26283Thr)
c.106043A>C (p.Asn35348Thr)
c.101120A>C (p.Asn33707Thr)
n.446+6936T>G
n.220-5160T>G
c.105140A>C (p.Asn35047Thr)
c.79034A>C (p.Asn26345Thr)
c.78893A>C (p.Asn26298Thr)
c.104936A>C (p.Asn34979Thr)
c.100334A>C (p.Asn33445Thr)
c.100331A>C (p.Asn33444Thr)
c.97373A>C (p.Asn32458Thr)
c.78989A>C (p.Asn26330Thr)
c.100484A>C (p.Asn33495Thr)
c.100481A>C (p.Asn33494Thr)
c.99914A>C (p.Asn33305Thr)
c.97256A>C (p.Asn32419Thr)
c.97175A>C (p.Asn32392Thr)
c.78938A>C (p.Asn26313Thr)
c.68792A>C (p.Asn22931Thr)
 ClinVar
2g.178530573T>ACA349407158TTN,TTN-AS1c.98338A>T (p.Asn32780Tyr)
c.79423A>T (p.Asn26475Tyr)
c.79222A>T (p.Asn26408Tyr)
c.78847A>T (p.Asn26283Tyr)
c.106042A>T (p.Asn35348Tyr)
c.101119A>T (p.Asn33707Tyr)
n.446+6937T>A
n.220-5159T>A
c.105139A>T (p.Asn35047Tyr)
c.79033A>T (p.Asn26345Tyr)
c.78892A>T (p.Asn26298Tyr)
c.104935A>T (p.Asn34979Tyr)
c.100333A>T (p.Asn33445Tyr)
c.100330A>T (p.Asn33444Tyr)
c.97372A>T (p.Asn32458Tyr)
c.78988A>T (p.Asn26330Tyr)
c.100483A>T (p.Asn33495Tyr)
c.100480A>T (p.Asn33494Tyr)
c.99913A>T (p.Asn33305Tyr)
c.97255A>T (p.Asn32419Tyr)
c.97174A>T (p.Asn32392Tyr)
c.78937A>T (p.Asn26313Tyr)
c.68791A>T (p.Asn22931Tyr)
2g.178530573T>CCA349407160TTN,TTN-AS1c.98338A>G (p.Asn32780Asp)
c.79423A>G (p.Asn26475Asp)
c.79222A>G (p.Asn26408Asp)
c.78847A>G (p.Asn26283Asp)
c.106042A>G (p.Asn35348Asp)
c.101119A>G (p.Asn33707Asp)
n.446+6937T>C
n.220-5159T>C
c.105139A>G (p.Asn35047Asp)
c.79033A>G (p.Asn26345Asp)
c.78892A>G (p.Asn26298Asp)
c.104935A>G (p.Asn34979Asp)
c.100333A>G (p.Asn33445Asp)
c.100330A>G (p.Asn33444Asp)
c.97372A>G (p.Asn32458Asp)
c.78988A>G (p.Asn26330Asp)
c.100483A>G (p.Asn33495Asp)
c.100480A>G (p.Asn33494Asp)
c.99913A>G (p.Asn33305Asp)
c.97255A>G (p.Asn32419Asp)
c.97174A>G (p.Asn32392Asp)
c.78937A>G (p.Asn26313Asp)
c.68791A>G (p.Asn22931Asp)
2g.178530573T>GCA349407159TTN,TTN-AS1c.98338A>C (p.Asn32780His)
c.79423A>C (p.Asn26475His)
c.79222A>C (p.Asn26408His)
c.78847A>C (p.Asn26283His)
c.106042A>C (p.Asn35348His)
c.101119A>C (p.Asn33707His)
n.446+6937T>G
n.220-5159T>G
c.105139A>C (p.Asn35047His)
c.79033A>C (p.Asn26345His)
c.78892A>C (p.Asn26298His)
c.104935A>C (p.Asn34979His)
c.100333A>C (p.Asn33445His)
c.100330A>C (p.Asn33444His)
c.97372A>C (p.Asn32458His)
c.78988A>C (p.Asn26330His)
c.100483A>C (p.Asn33495His)
c.100480A>C (p.Asn33494His)
c.99913A>C (p.Asn33305His)
c.97255A>C (p.Asn32419His)
c.97174A>C (p.Asn32392His)
c.78937A>C (p.Asn26313His)
c.68791A>C (p.Asn22931His)
 dbSNP gnomAD v4
2g.178530573T=CA1310514770TTN,TTN-AS1c.98338A= (p.Asn32780=)
c.79423A= (p.Asn26475=)
c.79222A= (p.Asn26408=)
c.78847A= (p.Asn26283=)
c.106042A= (p.Asn35348=)
c.101119A= (p.Asn33707=)
n.446+6937T=
n.220-5159T=
c.105139A= (p.Asn35047=)
c.79033A= (p.Asn26345=)
c.78892A= (p.Asn26298=)
c.104935A= (p.Asn34979=)
c.100333A= (p.Asn33445=)
c.100330A= (p.Asn33444=)
c.97372A= (p.Asn32458=)
c.78988A= (p.Asn26330=)
c.100483A= (p.Asn33495=)
c.100480A= (p.Asn33494=)
c.99913A= (p.Asn33305=)
c.97255A= (p.Asn32419=)
c.97174A= (p.Asn32392=)
c.78937A= (p.Asn26313=)
c.68791A= (p.Asn22931=)
2g.178530574A=CA1310514772TTN,TTN-AS1c.98337T= (p.Asn32779=)
c.79422T= (p.Asn26474=)
c.79221T= (p.Asn26407=)
c.78846T= (p.Asn26282=)
c.106041T= (p.Asn35347=)
c.101118T= (p.Asn33706=)
n.446+6938A=
n.220-5158A=
c.105138T= (p.Asn35046=)
c.79032T= (p.Asn26344=)
c.78891T= (p.Asn26297=)
c.104934T= (p.Asn34978=)
c.100332T= (p.Asn33444=)
c.100329T= (p.Asn33443=)
c.97371T= (p.Asn32457=)
c.78987T= (p.Asn26329=)
c.100482T= (p.Asn33494=)
c.100479T= (p.Asn33493=)
c.99912T= (p.Asn33304=)
c.97254T= (p.Asn32418=)
c.97173T= (p.Asn32391=)
c.78936T= (p.Asn26312=)
c.68790T= (p.Asn22930=)
2g.178530574A>CCA349407161TTN,TTN-AS1c.98337T>G (p.Asn32779Lys)
c.79422T>G (p.Asn26474Lys)
c.79221T>G (p.Asn26407Lys)
c.78846T>G (p.Asn26282Lys)
c.106041T>G (p.Asn35347Lys)
c.101118T>G (p.Asn33706Lys)
n.446+6938A>C
n.220-5158A>C
c.105138T>G (p.Asn35046Lys)
c.79032T>G (p.Asn26344Lys)
c.78891T>G (p.Asn26297Lys)
c.104934T>G (p.Asn34978Lys)
c.100332T>G (p.Asn33444Lys)
c.100329T>G (p.Asn33443Lys)
c.97371T>G (p.Asn32457Lys)
c.78987T>G (p.Asn26329Lys)
c.100482T>G (p.Asn33494Lys)
c.100479T>G (p.Asn33493Lys)
c.99912T>G (p.Asn33304Lys)
c.97254T>G (p.Asn32418Lys)
c.97173T>G (p.Asn32391Lys)
c.78936T>G (p.Asn26312Lys)
c.68790T>G (p.Asn22930Lys)
2g.178530574A>GCA430235433TTN,TTN-AS1c.98337T>C (p.Asn32779=)
c.79422T>C (p.Asn26474=)
c.79221T>C (p.Asn26407=)
c.78846T>C (p.Asn26282=)
c.106041T>C (p.Asn35347=)
c.101118T>C (p.Asn33706=)
n.446+6938A>G
n.220-5158A>G
c.105138T>C (p.Asn35046=)
c.79032T>C (p.Asn26344=)
c.78891T>C (p.Asn26297=)
c.104934T>C (p.Asn34978=)
c.100332T>C (p.Asn33444=)
c.100329T>C (p.Asn33443=)
c.97371T>C (p.Asn32457=)
c.78987T>C (p.Asn26329=)
c.100482T>C (p.Asn33494=)
c.100479T>C (p.Asn33493=)
c.99912T>C (p.Asn33304=)
c.97254T>C (p.Asn32418=)
c.97173T>C (p.Asn32391=)
c.78936T>C (p.Asn26312=)
c.68790T>C (p.Asn22930=)
 dbSNP gnomAD v2 gnomAD v4
2g.178530574A>TCA349407162TTN,TTN-AS1c.98337T>A (p.Asn32779Lys)
c.79422T>A (p.Asn26474Lys)
c.79221T>A (p.Asn26407Lys)
c.78846T>A (p.Asn26282Lys)
c.106041T>A (p.Asn35347Lys)
c.101118T>A (p.Asn33706Lys)
n.446+6938A>T
n.220-5158A>T
c.105138T>A (p.Asn35046Lys)
c.79032T>A (p.Asn26344Lys)
c.78891T>A (p.Asn26297Lys)
c.104934T>A (p.Asn34978Lys)
c.100332T>A (p.Asn33444Lys)
c.100329T>A (p.Asn33443Lys)
c.97371T>A (p.Asn32457Lys)
c.78987T>A (p.Asn26329Lys)
c.100482T>A (p.Asn33494Lys)
c.100479T>A (p.Asn33493Lys)
c.99912T>A (p.Asn33304Lys)
c.97254T>A (p.Asn32418Lys)
c.97173T>A (p.Asn32391Lys)
c.78936T>A (p.Asn26312Lys)
c.68790T>A (p.Asn22930Lys)
2g.178530575T>ACA349407163TTN,TTN-AS1c.98336A>T (p.Asn32779Ile)
c.79421A>T (p.Asn26474Ile)
c.79220A>T (p.Asn26407Ile)
c.78845A>T (p.Asn26282Ile)
c.106040A>T (p.Asn35347Ile)
c.101117A>T (p.Asn33706Ile)
n.446+6939T>A
n.220-5157T>A
c.105137A>T (p.Asn35046Ile)
c.79031A>T (p.Asn26344Ile)
c.78890A>T (p.Asn26297Ile)
c.104933A>T (p.Asn34978Ile)
c.100331A>T (p.Asn33444Ile)
c.100328A>T (p.Asn33443Ile)
c.97370A>T (p.Asn32457Ile)
c.78986A>T (p.Asn26329Ile)
c.100481A>T (p.Asn33494Ile)
c.100478A>T (p.Asn33493Ile)
c.99911A>T (p.Asn33304Ile)
c.97253A>T (p.Asn32418Ile)
c.97172A>T (p.Asn32391Ile)
c.78935A>T (p.Asn26312Ile)
c.68789A>T (p.Asn22930Ile)
 dbSNP
2g.178530575T>CCA1985174TTN,TTN-AS1c.98336A>G (p.Asn32779Ser)
c.79421A>G (p.Asn26474Ser)
c.79220A>G (p.Asn26407Ser)
c.78845A>G (p.Asn26282Ser)
c.106040A>G (p.Asn35347Ser)
c.101117A>G (p.Asn33706Ser)
n.446+6939T>C
n.220-5157T>C
c.105137A>G (p.Asn35046Ser)
c.79031A>G (p.Asn26344Ser)
c.78890A>G (p.Asn26297Ser)
c.104933A>G (p.Asn34978Ser)
c.100331A>G (p.Asn33444Ser)
c.100328A>G (p.Asn33443Ser)
c.97370A>G (p.Asn32457Ser)
c.78986A>G (p.Asn26329Ser)
c.100481A>G (p.Asn33494Ser)
c.100478A>G (p.Asn33493Ser)
c.99911A>G (p.Asn33304Ser)
c.97253A>G (p.Asn32418Ser)
c.97172A>G (p.Asn32391Ser)
c.78935A>G (p.Asn26312Ser)
c.68789A>G (p.Asn22930Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530575T>GCA349407164TTN,TTN-AS1c.98336A>C (p.Asn32779Thr)
c.79421A>C (p.Asn26474Thr)
c.79220A>C (p.Asn26407Thr)
c.78845A>C (p.Asn26282Thr)
c.106040A>C (p.Asn35347Thr)
c.101117A>C (p.Asn33706Thr)
n.446+6939T>G
n.220-5157T>G
c.105137A>C (p.Asn35046Thr)
c.79031A>C (p.Asn26344Thr)
c.78890A>C (p.Asn26297Thr)
c.104933A>C (p.Asn34978Thr)
c.100331A>C (p.Asn33444Thr)
c.100328A>C (p.Asn33443Thr)
c.97370A>C (p.Asn32457Thr)
c.78986A>C (p.Asn26329Thr)
c.100481A>C (p.Asn33494Thr)
c.100478A>C (p.Asn33493Thr)
c.99911A>C (p.Asn33304Thr)
c.97253A>C (p.Asn32418Thr)
c.97172A>C (p.Asn32391Thr)
c.78935A>C (p.Asn26312Thr)
c.68789A>C (p.Asn22930Thr)
2g.178530575T=CA1310514774TTN,TTN-AS1c.98336A= (p.Asn32779=)
c.79421A= (p.Asn26474=)
c.79220A= (p.Asn26407=)
c.78845A= (p.Asn26282=)
c.106040A= (p.Asn35347=)
c.101117A= (p.Asn33706=)
n.446+6939T=
n.220-5157T=
c.105137A= (p.Asn35046=)
c.79031A= (p.Asn26344=)
c.78890A= (p.Asn26297=)
c.104933A= (p.Asn34978=)
c.100331A= (p.Asn33444=)
c.100328A= (p.Asn33443=)
c.97370A= (p.Asn32457=)
c.78986A= (p.Asn26329=)
c.100481A= (p.Asn33494=)
c.100478A= (p.Asn33493=)
c.99911A= (p.Asn33304=)
c.97253A= (p.Asn32418=)
c.97172A= (p.Asn32391=)
c.78935A= (p.Asn26312=)
c.68789A= (p.Asn22930=)
2g.178530576T>ACA349407165TTN,TTN-AS1c.98335A>T (p.Asn32779Tyr)
c.79420A>T (p.Asn26474Tyr)
c.79219A>T (p.Asn26407Tyr)
c.78844A>T (p.Asn26282Tyr)
c.106039A>T (p.Asn35347Tyr)
c.101116A>T (p.Asn33706Tyr)
n.446+6940T>A
n.220-5156T>A
c.105136A>T (p.Asn35046Tyr)
c.79030A>T (p.Asn26344Tyr)
c.78889A>T (p.Asn26297Tyr)
c.104932A>T (p.Asn34978Tyr)
c.100330A>T (p.Asn33444Tyr)
c.100327A>T (p.Asn33443Tyr)
c.97369A>T (p.Asn32457Tyr)
c.78985A>T (p.Asn26329Tyr)
c.100480A>T (p.Asn33494Tyr)
c.100477A>T (p.Asn33493Tyr)
c.99910A>T (p.Asn33304Tyr)
c.97252A>T (p.Asn32418Tyr)
c.97171A>T (p.Asn32391Tyr)
c.78934A>T (p.Asn26312Tyr)
c.68788A>T (p.Asn22930Tyr)
2g.178530576T>CCA349407166TTN,TTN-AS1c.98335A>G (p.Asn32779Asp)
c.79420A>G (p.Asn26474Asp)
c.79219A>G (p.Asn26407Asp)
c.78844A>G (p.Asn26282Asp)
c.106039A>G (p.Asn35347Asp)
c.101116A>G (p.Asn33706Asp)
n.446+6940T>C
n.220-5156T>C
c.105136A>G (p.Asn35046Asp)
c.79030A>G (p.Asn26344Asp)
c.78889A>G (p.Asn26297Asp)
c.104932A>G (p.Asn34978Asp)
c.100330A>G (p.Asn33444Asp)
c.100327A>G (p.Asn33443Asp)
c.97369A>G (p.Asn32457Asp)
c.78985A>G (p.Asn26329Asp)
c.100480A>G (p.Asn33494Asp)
c.100477A>G (p.Asn33493Asp)
c.99910A>G (p.Asn33304Asp)
c.97252A>G (p.Asn32418Asp)
c.97171A>G (p.Asn32391Asp)
c.78934A>G (p.Asn26312Asp)
c.68788A>G (p.Asn22930Asp)
2g.178530576T>GCA349407167TTN,TTN-AS1c.98335A>C (p.Asn32779His)
c.79420A>C (p.Asn26474His)
c.79219A>C (p.Asn26407His)
c.78844A>C (p.Asn26282His)
c.106039A>C (p.Asn35347His)
c.101116A>C (p.Asn33706His)
n.446+6940T>G
n.220-5156T>G
c.105136A>C (p.Asn35046His)
c.79030A>C (p.Asn26344His)
c.78889A>C (p.Asn26297His)
c.104932A>C (p.Asn34978His)
c.100330A>C (p.Asn33444His)
c.100327A>C (p.Asn33443His)
c.97369A>C (p.Asn32457His)
c.78985A>C (p.Asn26329His)
c.100480A>C (p.Asn33494His)
c.100477A>C (p.Asn33493His)
c.99910A>C (p.Asn33304His)
c.97252A>C (p.Asn32418His)
c.97171A>C (p.Asn32391His)
c.78934A>C (p.Asn26312His)
c.68788A>C (p.Asn22930His)
 dbSNP
2g.178530577G>ACA430235441TTN,TTN-AS1c.98334C>T (p.Ile32778=)
c.79419C>T (p.Ile26473=)
c.79218C>T (p.Ile26406=)
c.78843C>T (p.Ile26281=)
c.106038C>T (p.Ile35346=)
c.101115C>T (p.Ile33705=)
n.446+6941G>A
n.220-5155G>A
c.105135C>T (p.Ile35045=)
c.79029C>T (p.Ile26343=)
c.78888C>T (p.Ile26296=)
c.104931C>T (p.Ile34977=)
c.100329C>T (p.Ile33443=)
c.100326C>T (p.Ile33442=)
c.97368C>T (p.Ile32456=)
c.78984C>T (p.Ile26328=)
c.100479C>T (p.Ile33493=)
c.100476C>T (p.Ile33492=)
c.99909C>T (p.Ile33303=)
c.97251C>T (p.Ile32417=)
c.97170C>T (p.Ile32390=)
c.78933C>T (p.Ile26311=)
c.68787C>T (p.Ile22929=)
2g.178530577G>CCA349407168TTN,TTN-AS1c.98334C>G (p.Ile32778Met)
c.79419C>G (p.Ile26473Met)
c.79218C>G (p.Ile26406Met)
c.78843C>G (p.Ile26281Met)
c.106038C>G (p.Ile35346Met)
c.101115C>G (p.Ile33705Met)
n.446+6941G>C
n.220-5155G>C
c.105135C>G (p.Ile35045Met)
c.79029C>G (p.Ile26343Met)
c.78888C>G (p.Ile26296Met)
c.104931C>G (p.Ile34977Met)
c.100329C>G (p.Ile33443Met)
c.100326C>G (p.Ile33442Met)
c.97368C>G (p.Ile32456Met)
c.78984C>G (p.Ile26328Met)
c.100479C>G (p.Ile33493Met)
c.100476C>G (p.Ile33492Met)
c.99909C>G (p.Ile33303Met)
c.97251C>G (p.Ile32417Met)
c.97170C>G (p.Ile32390Met)
c.78933C>G (p.Ile26311Met)
c.68787C>G (p.Ile22929Met)
 dbSNP gnomAD v3 gnomAD v4
2g.178530577G=CA1310514775TTN,TTN-AS1c.98334C= (p.Ile32778=)
c.79419C= (p.Ile26473=)
c.79218C= (p.Ile26406=)
c.78843C= (p.Ile26281=)
c.106038C= (p.Ile35346=)
c.101115C= (p.Ile33705=)
n.446+6941G=
n.220-5155G=
c.105135C= (p.Ile35045=)
c.79029C= (p.Ile26343=)
c.78888C= (p.Ile26296=)
c.104931C= (p.Ile34977=)
c.100329C= (p.Ile33443=)
c.100326C= (p.Ile33442=)
c.97368C= (p.Ile32456=)
c.78984C= (p.Ile26328=)
c.100479C= (p.Ile33493=)
c.100476C= (p.Ile33492=)
c.99909C= (p.Ile33303=)
c.97251C= (p.Ile32417=)
c.97170C= (p.Ile32390=)
c.78933C= (p.Ile26311=)
c.68787C= (p.Ile22929=)
2g.178530577G>TCA430235443TTN,TTN-AS1c.98334C>A (p.Ile32778=)
c.79419C>A (p.Ile26473=)
c.79218C>A (p.Ile26406=)
c.78843C>A (p.Ile26281=)
c.106038C>A (p.Ile35346=)
c.101115C>A (p.Ile33705=)
n.446+6941G>T
n.220-5155G>T
c.105135C>A (p.Ile35045=)
c.79029C>A (p.Ile26343=)
c.78888C>A (p.Ile26296=)
c.104931C>A (p.Ile34977=)
c.100329C>A (p.Ile33443=)
c.100326C>A (p.Ile33442=)
c.97368C>A (p.Ile32456=)
c.78984C>A (p.Ile26328=)
c.100479C>A (p.Ile33493=)
c.100476C>A (p.Ile33492=)
c.99909C>A (p.Ile33303=)
c.97251C>A (p.Ile32417=)
c.97170C>A (p.Ile32390=)
c.78933C>A (p.Ile26311=)
c.68787C>A (p.Ile22929=)
2g.178530578A>CCA349407169TTN,TTN-AS1c.98333T>G (p.Ile32778Ser)
c.79418T>G (p.Ile26473Ser)
c.79217T>G (p.Ile26406Ser)
c.78842T>G (p.Ile26281Ser)
c.106037T>G (p.Ile35346Ser)
c.101114T>G (p.Ile33705Ser)
n.446+6942A>C
n.220-5154A>C
c.105134T>G (p.Ile35045Ser)
c.79028T>G (p.Ile26343Ser)
c.78887T>G (p.Ile26296Ser)
c.104930T>G (p.Ile34977Ser)
c.100328T>G (p.Ile33443Ser)
c.100325T>G (p.Ile33442Ser)
c.97367T>G (p.Ile32456Ser)
c.78983T>G (p.Ile26328Ser)
c.100478T>G (p.Ile33493Ser)
c.100475T>G (p.Ile33492Ser)
c.99908T>G (p.Ile33303Ser)
c.97250T>G (p.Ile32417Ser)
c.97169T>G (p.Ile32390Ser)
c.78932T>G (p.Ile26311Ser)
c.68786T>G (p.Ile22929Ser)
2g.178530578A>GCA349407170TTN,TTN-AS1c.98333T>C (p.Ile32778Thr)
c.79418T>C (p.Ile26473Thr)
c.79217T>C (p.Ile26406Thr)
c.78842T>C (p.Ile26281Thr)
c.106037T>C (p.Ile35346Thr)
c.101114T>C (p.Ile33705Thr)
n.446+6942A>G
n.220-5154A>G
c.105134T>C (p.Ile35045Thr)
c.79028T>C (p.Ile26343Thr)
c.78887T>C (p.Ile26296Thr)
c.104930T>C (p.Ile34977Thr)
c.100328T>C (p.Ile33443Thr)
c.100325T>C (p.Ile33442Thr)
c.97367T>C (p.Ile32456Thr)
c.78983T>C (p.Ile26328Thr)
c.100478T>C (p.Ile33493Thr)
c.100475T>C (p.Ile33492Thr)
c.99908T>C (p.Ile33303Thr)
c.97250T>C (p.Ile32417Thr)
c.97169T>C (p.Ile32390Thr)
c.78932T>C (p.Ile26311Thr)
c.68786T>C (p.Ile22929Thr)
2g.178530578A>TCA349407171TTN,TTN-AS1c.98333T>A (p.Ile32778Asn)
c.79418T>A (p.Ile26473Asn)
c.79217T>A (p.Ile26406Asn)
c.78842T>A (p.Ile26281Asn)
c.106037T>A (p.Ile35346Asn)
c.101114T>A (p.Ile33705Asn)
n.446+6942A>T
n.220-5154A>T
c.105134T>A (p.Ile35045Asn)
c.79028T>A (p.Ile26343Asn)
c.78887T>A (p.Ile26296Asn)
c.104930T>A (p.Ile34977Asn)
c.100328T>A (p.Ile33443Asn)
c.100325T>A (p.Ile33442Asn)
c.97367T>A (p.Ile32456Asn)
c.78983T>A (p.Ile26328Asn)
c.100478T>A (p.Ile33493Asn)
c.100475T>A (p.Ile33492Asn)
c.99908T>A (p.Ile33303Asn)
c.97250T>A (p.Ile32417Asn)
c.97169T>A (p.Ile32390Asn)
c.78932T>A (p.Ile26311Asn)
c.68786T>A (p.Ile22929Asn)
2g.178530579T>ACA349407174TTN,TTN-AS1c.98332A>T (p.Ile32778Phe)
c.79417A>T (p.Ile26473Phe)
c.79216A>T (p.Ile26406Phe)
c.78841A>T (p.Ile26281Phe)
c.106036A>T (p.Ile35346Phe)
c.101113A>T (p.Ile33705Phe)
n.446+6943T>A
n.220-5153T>A
c.105133A>T (p.Ile35045Phe)
c.79027A>T (p.Ile26343Phe)
c.78886A>T (p.Ile26296Phe)
c.104929A>T (p.Ile34977Phe)
c.100327A>T (p.Ile33443Phe)
c.100324A>T (p.Ile33442Phe)
c.97366A>T (p.Ile32456Phe)
c.78982A>T (p.Ile26328Phe)
c.100477A>T (p.Ile33493Phe)
c.100474A>T (p.Ile33492Phe)
c.99907A>T (p.Ile33303Phe)
c.97249A>T (p.Ile32417Phe)
c.97168A>T (p.Ile32390Phe)
c.78931A>T (p.Ile26311Phe)
c.68785A>T (p.Ile22929Phe)
2g.178530579T>CCA349407172TTN,TTN-AS1c.98332A>G (p.Ile32778Val)
c.79417A>G (p.Ile26473Val)
c.79216A>G (p.Ile26406Val)
c.78841A>G (p.Ile26281Val)
c.106036A>G (p.Ile35346Val)
c.101113A>G (p.Ile33705Val)
n.446+6943T>C
n.220-5153T>C
c.105133A>G (p.Ile35045Val)
c.79027A>G (p.Ile26343Val)
c.78886A>G (p.Ile26296Val)
c.104929A>G (p.Ile34977Val)
c.100327A>G (p.Ile33443Val)
c.100324A>G (p.Ile33442Val)
c.97366A>G (p.Ile32456Val)
c.78982A>G (p.Ile26328Val)
c.100477A>G (p.Ile33493Val)
c.100474A>G (p.Ile33492Val)
c.99907A>G (p.Ile33303Val)
c.97249A>G (p.Ile32417Val)
c.97168A>G (p.Ile32390Val)
c.78931A>G (p.Ile26311Val)
c.68785A>G (p.Ile22929Val)
2g.178530579T>GCA349407173TTN,TTN-AS1c.98332A>C (p.Ile32778Leu)
c.79417A>C (p.Ile26473Leu)
c.79216A>C (p.Ile26406Leu)
c.78841A>C (p.Ile26281Leu)
c.106036A>C (p.Ile35346Leu)
c.101113A>C (p.Ile33705Leu)
n.446+6943T>G
n.220-5153T>G
c.105133A>C (p.Ile35045Leu)
c.79027A>C (p.Ile26343Leu)
c.78886A>C (p.Ile26296Leu)
c.104929A>C (p.Ile34977Leu)
c.100327A>C (p.Ile33443Leu)
c.100324A>C (p.Ile33442Leu)
c.97366A>C (p.Ile32456Leu)
c.78982A>C (p.Ile26328Leu)
c.100477A>C (p.Ile33493Leu)
c.100474A>C (p.Ile33492Leu)
c.99907A>C (p.Ile33303Leu)
c.97249A>C (p.Ile32417Leu)
c.97168A>C (p.Ile32390Leu)
c.78931A>C (p.Ile26311Leu)
c.68785A>C (p.Ile22929Leu)
2g.178530580T>ACA349407175TTN,TTN-AS1c.98331A>T (p.Lys32777Asn)
c.79416A>T (p.Lys26472Asn)
c.79215A>T (p.Lys26405Asn)
c.78840A>T (p.Lys26280Asn)
c.106035A>T (p.Lys35345Asn)
c.101112A>T (p.Lys33704Asn)
n.446+6944T>A
n.220-5152T>A
c.105132A>T (p.Lys35044Asn)
c.79026A>T (p.Lys26342Asn)
c.78885A>T (p.Lys26295Asn)
c.104928A>T (p.Lys34976Asn)
c.100326A>T (p.Lys33442Asn)
c.100323A>T (p.Lys33441Asn)
c.97365A>T (p.Lys32455Asn)
c.78981A>T (p.Lys26327Asn)
c.100476A>T (p.Lys33492Asn)
c.100473A>T (p.Lys33491Asn)
c.99906A>T (p.Lys33302Asn)
c.97248A>T (p.Lys32416Asn)
c.97167A>T (p.Lys32389Asn)
c.78930A>T (p.Lys26310Asn)
c.68784A>T (p.Lys22928Asn)
2g.178530580T>CCA430235446TTN,TTN-AS1c.98331A>G (p.Lys32777=)
c.79416A>G (p.Lys26472=)
c.79215A>G (p.Lys26405=)
c.78840A>G (p.Lys26280=)
c.106035A>G (p.Lys35345=)
c.101112A>G (p.Lys33704=)
n.446+6944T>C
n.220-5152T>C
c.105132A>G (p.Lys35044=)
c.79026A>G (p.Lys26342=)
c.78885A>G (p.Lys26295=)
c.104928A>G (p.Lys34976=)
c.100326A>G (p.Lys33442=)
c.100323A>G (p.Lys33441=)
c.97365A>G (p.Lys32455=)
c.78981A>G (p.Lys26327=)
c.100476A>G (p.Lys33492=)
c.100473A>G (p.Lys33491=)
c.99906A>G (p.Lys33302=)
c.97248A>G (p.Lys32416=)
c.97167A>G (p.Lys32389=)
c.78930A>G (p.Lys26310=)
c.68784A>G (p.Lys22928=)
2g.178530580T>GCA349407176TTN,TTN-AS1c.98331A>C (p.Lys32777Asn)
c.79416A>C (p.Lys26472Asn)
c.79215A>C (p.Lys26405Asn)
c.78840A>C (p.Lys26280Asn)
c.106035A>C (p.Lys35345Asn)
c.101112A>C (p.Lys33704Asn)
n.446+6944T>G
n.220-5152T>G
c.105132A>C (p.Lys35044Asn)
c.79026A>C (p.Lys26342Asn)
c.78885A>C (p.Lys26295Asn)
c.104928A>C (p.Lys34976Asn)
c.100326A>C (p.Lys33442Asn)
c.100323A>C (p.Lys33441Asn)
c.97365A>C (p.Lys32455Asn)
c.78981A>C (p.Lys26327Asn)
c.100476A>C (p.Lys33492Asn)
c.100473A>C (p.Lys33491Asn)
c.99906A>C (p.Lys33302Asn)
c.97248A>C (p.Lys32416Asn)
c.97167A>C (p.Lys32389Asn)
c.78930A>C (p.Lys26310Asn)
c.68784A>C (p.Lys22928Asn)
2g.178530581T>ACA349407177TTN,TTN-AS1c.98330A>T (p.Lys32777Ile)
c.79415A>T (p.Lys26472Ile)
c.79214A>T (p.Lys26405Ile)
c.78839A>T (p.Lys26280Ile)
c.106034A>T (p.Lys35345Ile)
c.101111A>T (p.Lys33704Ile)
n.446+6945T>A
n.220-5151T>A
c.105131A>T (p.Lys35044Ile)
c.79025A>T (p.Lys26342Ile)
c.78884A>T (p.Lys26295Ile)
c.104927A>T (p.Lys34976Ile)
c.100325A>T (p.Lys33442Ile)
c.100322A>T (p.Lys33441Ile)
c.97364A>T (p.Lys32455Ile)
c.78980A>T (p.Lys26327Ile)
c.100475A>T (p.Lys33492Ile)
c.100472A>T (p.Lys33491Ile)
c.99905A>T (p.Lys33302Ile)
c.97247A>T (p.Lys32416Ile)
c.97166A>T (p.Lys32389Ile)
c.78929A>T (p.Lys26310Ile)
c.68783A>T (p.Lys22928Ile)
2g.178530581T>CCA349407178TTN,TTN-AS1c.98330A>G (p.Lys32777Arg)
c.79415A>G (p.Lys26472Arg)
c.79214A>G (p.Lys26405Arg)
c.78839A>G (p.Lys26280Arg)
c.106034A>G (p.Lys35345Arg)
c.101111A>G (p.Lys33704Arg)
n.446+6945T>C
n.220-5151T>C
c.105131A>G (p.Lys35044Arg)
c.79025A>G (p.Lys26342Arg)
c.78884A>G (p.Lys26295Arg)
c.104927A>G (p.Lys34976Arg)
c.100325A>G (p.Lys33442Arg)
c.100322A>G (p.Lys33441Arg)
c.97364A>G (p.Lys32455Arg)
c.78980A>G (p.Lys26327Arg)
c.100475A>G (p.Lys33492Arg)
c.100472A>G (p.Lys33491Arg)
c.99905A>G (p.Lys33302Arg)
c.97247A>G (p.Lys32416Arg)
c.97166A>G (p.Lys32389Arg)
c.78929A>G (p.Lys26310Arg)
c.68783A>G (p.Lys22928Arg)
2g.178530581T>GCA349407179TTN,TTN-AS1c.98330A>C (p.Lys32777Thr)
c.79415A>C (p.Lys26472Thr)
c.79214A>C (p.Lys26405Thr)
c.78839A>C (p.Lys26280Thr)
c.106034A>C (p.Lys35345Thr)
c.101111A>C (p.Lys33704Thr)
n.446+6945T>G
n.220-5151T>G
c.105131A>C (p.Lys35044Thr)
c.79025A>C (p.Lys26342Thr)
c.78884A>C (p.Lys26295Thr)
c.104927A>C (p.Lys34976Thr)
c.100325A>C (p.Lys33442Thr)
c.100322A>C (p.Lys33441Thr)
c.97364A>C (p.Lys32455Thr)
c.78980A>C (p.Lys26327Thr)
c.100475A>C (p.Lys33492Thr)
c.100472A>C (p.Lys33491Thr)
c.99905A>C (p.Lys33302Thr)
c.97247A>C (p.Lys32416Thr)
c.97166A>C (p.Lys32389Thr)
c.78929A>C (p.Lys26310Thr)
c.68783A>C (p.Lys22928Thr)
2g.178530582T>ACA349407180TTN,TTN-AS1c.98329A>T (p.Lys32777Ter)
c.79414A>T (p.Lys26472Ter)
c.79213A>T (p.Lys26405Ter)
c.78838A>T (p.Lys26280Ter)
c.106033A>T (p.Lys35345Ter)
c.101110A>T (p.Lys33704Ter)
n.446+6946T>A
n.220-5150T>A
c.105130A>T (p.Lys35044Ter)
c.79024A>T (p.Lys26342Ter)
c.78883A>T (p.Lys26295Ter)
c.104926A>T (p.Lys34976Ter)
c.100324A>T (p.Lys33442Ter)
c.100321A>T (p.Lys33441Ter)
c.97363A>T (p.Lys32455Ter)
c.78979A>T (p.Lys26327Ter)
c.100474A>T (p.Lys33492Ter)
c.100471A>T (p.Lys33491Ter)
c.99904A>T (p.Lys33302Ter)
c.97246A>T (p.Lys32416Ter)
c.97165A>T (p.Lys32389Ter)
c.78928A>T (p.Lys26310Ter)
c.68782A>T (p.Lys22928Ter)
 gnomAD v4
2g.178530582T>CCA349407181TTN,TTN-AS1c.98329A>G (p.Lys32777Glu)
c.79414A>G (p.Lys26472Glu)
c.79213A>G (p.Lys26405Glu)
c.78838A>G (p.Lys26280Glu)
c.106033A>G (p.Lys35345Glu)
c.101110A>G (p.Lys33704Glu)
n.446+6946T>C
n.220-5150T>C
c.105130A>G (p.Lys35044Glu)
c.79024A>G (p.Lys26342Glu)
c.78883A>G (p.Lys26295Glu)
c.104926A>G (p.Lys34976Glu)
c.100324A>G (p.Lys33442Glu)
c.100321A>G (p.Lys33441Glu)
c.97363A>G (p.Lys32455Glu)
c.78979A>G (p.Lys26327Glu)
c.100474A>G (p.Lys33492Glu)
c.100471A>G (p.Lys33491Glu)
c.99904A>G (p.Lys33302Glu)
c.97246A>G (p.Lys32416Glu)
c.97165A>G (p.Lys32389Glu)
c.78928A>G (p.Lys26310Glu)
c.68782A>G (p.Lys22928Glu)
2g.178530582T>GCA349407182TTN,TTN-AS1c.98329A>C (p.Lys32777Gln)
c.79414A>C (p.Lys26472Gln)
c.79213A>C (p.Lys26405Gln)
c.78838A>C (p.Lys26280Gln)
c.106033A>C (p.Lys35345Gln)
c.101110A>C (p.Lys33704Gln)
n.446+6946T>G
n.220-5150T>G
c.105130A>C (p.Lys35044Gln)
c.79024A>C (p.Lys26342Gln)
c.78883A>C (p.Lys26295Gln)
c.104926A>C (p.Lys34976Gln)
c.100324A>C (p.Lys33442Gln)
c.100321A>C (p.Lys33441Gln)
c.97363A>C (p.Lys32455Gln)
c.78979A>C (p.Lys26327Gln)
c.100474A>C (p.Lys33492Gln)
c.100471A>C (p.Lys33491Gln)
c.99904A>C (p.Lys33302Gln)
c.97246A>C (p.Lys32416Gln)
c.97165A>C (p.Lys32389Gln)
c.78928A>C (p.Lys26310Gln)
c.68782A>C (p.Lys22928Gln)
2g.178530583G>ACA430235452TTN,TTN-AS1c.98328C>T (p.Leu32776=)
c.79413C>T (p.Leu26471=)
c.79212C>T (p.Leu26404=)
c.78837C>T (p.Leu26279=)
c.106032C>T (p.Leu35344=)
c.101109C>T (p.Leu33703=)
n.446+6947G>A
n.220-5149G>A
c.105129C>T (p.Leu35043=)
c.79023C>T (p.Leu26341=)
c.78882C>T (p.Leu26294=)
c.104925C>T (p.Leu34975=)
c.100323C>T (p.Leu33441=)
c.100320C>T (p.Leu33440=)
c.97362C>T (p.Leu32454=)
c.78978C>T (p.Leu26326=)
c.100473C>T (p.Leu33491=)
c.100470C>T (p.Leu33490=)
c.99903C>T (p.Leu33301=)
c.97245C>T (p.Leu32415=)
c.97164C>T (p.Leu32388=)
c.78927C>T (p.Leu26309=)
c.68781C>T (p.Leu22927=)
2g.178530583G>CCA430235453TTN,TTN-AS1c.98328C>G (p.Leu32776=)
c.79413C>G (p.Leu26471=)
c.79212C>G (p.Leu26404=)
c.78837C>G (p.Leu26279=)
c.106032C>G (p.Leu35344=)
c.101109C>G (p.Leu33703=)
n.446+6947G>C
n.220-5149G>C
c.105129C>G (p.Leu35043=)
c.79023C>G (p.Leu26341=)
c.78882C>G (p.Leu26294=)
c.104925C>G (p.Leu34975=)
c.100323C>G (p.Leu33441=)
c.100320C>G (p.Leu33440=)
c.97362C>G (p.Leu32454=)
c.78978C>G (p.Leu26326=)
c.100473C>G (p.Leu33491=)
c.100470C>G (p.Leu33490=)
c.99903C>G (p.Leu33301=)
c.97245C>G (p.Leu32415=)
c.97164C>G (p.Leu32388=)
c.78927C>G (p.Leu26309=)
c.68781C>G (p.Leu22927=)
2g.178530583G>TCA430235454TTN,TTN-AS1c.98328C>A (p.Leu32776=)
c.79413C>A (p.Leu26471=)
c.79212C>A (p.Leu26404=)
c.78837C>A (p.Leu26279=)
c.106032C>A (p.Leu35344=)
c.101109C>A (p.Leu33703=)
n.446+6947G>T
n.220-5149G>T
c.105129C>A (p.Leu35043=)
c.79023C>A (p.Leu26341=)
c.78882C>A (p.Leu26294=)
c.104925C>A (p.Leu34975=)
c.100323C>A (p.Leu33441=)
c.100320C>A (p.Leu33440=)
c.97362C>A (p.Leu32454=)
c.78978C>A (p.Leu26326=)
c.100473C>A (p.Leu33491=)
c.100470C>A (p.Leu33490=)
c.99903C>A (p.Leu33301=)
c.97245C>A (p.Leu32415=)
c.97164C>A (p.Leu32388=)
c.78927C>A (p.Leu26309=)
c.68781C>A (p.Leu22927=)
2g.178530584A=CA1310514777TTN,TTN-AS1c.98327T= (p.Leu32776=)
c.79412T= (p.Leu26471=)
c.79211T= (p.Leu26404=)
c.78836T= (p.Leu26279=)
c.106031T= (p.Leu35344=)
c.101108T= (p.Leu33703=)
n.446+6948A=
n.220-5148A=
c.105128T= (p.Leu35043=)
c.79022T= (p.Leu26341=)
c.78881T= (p.Leu26294=)
c.104924T= (p.Leu34975=)
c.100322T= (p.Leu33441=)
c.100319T= (p.Leu33440=)
c.97361T= (p.Leu32454=)
c.78977T= (p.Leu26326=)
c.100472T= (p.Leu33491=)
c.100469T= (p.Leu33490=)
c.99902T= (p.Leu33301=)
c.97244T= (p.Leu32415=)
c.97163T= (p.Leu32388=)
c.78926T= (p.Leu26309=)
c.68780T= (p.Leu22927=)
2g.178530584A>CCA349407183TTN,TTN-AS1c.98327T>G (p.Leu32776Arg)
c.79412T>G (p.Leu26471Arg)
c.79211T>G (p.Leu26404Arg)
c.78836T>G (p.Leu26279Arg)
c.106031T>G (p.Leu35344Arg)
c.101108T>G (p.Leu33703Arg)
n.446+6948A>C
n.220-5148A>C
c.105128T>G (p.Leu35043Arg)
c.79022T>G (p.Leu26341Arg)
c.78881T>G (p.Leu26294Arg)
c.104924T>G (p.Leu34975Arg)
c.100322T>G (p.Leu33441Arg)
c.100319T>G (p.Leu33440Arg)
c.97361T>G (p.Leu32454Arg)
c.78977T>G (p.Leu26326Arg)
c.100472T>G (p.Leu33491Arg)
c.100469T>G (p.Leu33490Arg)
c.99902T>G (p.Leu33301Arg)
c.97244T>G (p.Leu32415Arg)
c.97163T>G (p.Leu32388Arg)
c.78926T>G (p.Leu26309Arg)
c.68780T>G (p.Leu22927Arg)
2g.178530584A>GCA60953489TTN,TTN-AS1c.98327T>C (p.Leu32776Pro)
c.79412T>C (p.Leu26471Pro)
c.79211T>C (p.Leu26404Pro)
c.78836T>C (p.Leu26279Pro)
c.106031T>C (p.Leu35344Pro)
c.101108T>C (p.Leu33703Pro)
n.446+6948A>G
n.220-5148A>G
c.105128T>C (p.Leu35043Pro)
c.79022T>C (p.Leu26341Pro)
c.78881T>C (p.Leu26294Pro)
c.104924T>C (p.Leu34975Pro)
c.100322T>C (p.Leu33441Pro)
c.100319T>C (p.Leu33440Pro)
c.97361T>C (p.Leu32454Pro)
c.78977T>C (p.Leu26326Pro)
c.100472T>C (p.Leu33491Pro)
c.100469T>C (p.Leu33490Pro)
c.99902T>C (p.Leu33301Pro)
c.97244T>C (p.Leu32415Pro)
c.97163T>C (p.Leu32388Pro)
c.78926T>C (p.Leu26309Pro)
c.68780T>C (p.Leu22927Pro)
 dbSNP
2g.178530584A>TCA349407184TTN,TTN-AS1c.98327T>A (p.Leu32776His)
c.79412T>A (p.Leu26471His)
c.79211T>A (p.Leu26404His)
c.78836T>A (p.Leu26279His)
c.106031T>A (p.Leu35344His)
c.101108T>A (p.Leu33703His)
n.446+6948A>T
n.220-5148A>T
c.105128T>A (p.Leu35043His)
c.79022T>A (p.Leu26341His)
c.78881T>A (p.Leu26294His)
c.104924T>A (p.Leu34975His)
c.100322T>A (p.Leu33441His)
c.100319T>A (p.Leu33440His)
c.97361T>A (p.Leu32454His)
c.78977T>A (p.Leu26326His)
c.100472T>A (p.Leu33491His)
c.100469T>A (p.Leu33490His)
c.99902T>A (p.Leu33301His)
c.97244T>A (p.Leu32415His)
c.97163T>A (p.Leu32388His)
c.78926T>A (p.Leu26309His)
c.68780T>A (p.Leu22927His)
 gnomAD v4
2g.178530585G>ACA349407187TTN,TTN-AS1c.98326C>T (p.Leu32776Phe)
c.79411C>T (p.Leu26471Phe)
c.79210C>T (p.Leu26404Phe)
c.78835C>T (p.Leu26279Phe)
c.106030C>T (p.Leu35344Phe)
c.101107C>T (p.Leu33703Phe)
n.446+6949G>A
n.220-5147G>A
c.105127C>T (p.Leu35043Phe)
c.79021C>T (p.Leu26341Phe)
c.78880C>T (p.Leu26294Phe)
c.104923C>T (p.Leu34975Phe)
c.100321C>T (p.Leu33441Phe)
c.100318C>T (p.Leu33440Phe)
c.97360C>T (p.Leu32454Phe)
c.78976C>T (p.Leu26326Phe)
c.100471C>T (p.Leu33491Phe)
c.100468C>T (p.Leu33490Phe)
c.99901C>T (p.Leu33301Phe)
c.97243C>T (p.Leu32415Phe)
c.97162C>T (p.Leu32388Phe)
c.78925C>T (p.Leu26309Phe)
c.68779C>T (p.Leu22927Phe)
2g.178530585G>CCA349407186TTN,TTN-AS1c.98326C>G (p.Leu32776Val)
c.79411C>G (p.Leu26471Val)
c.79210C>G (p.Leu26404Val)
c.78835C>G (p.Leu26279Val)
c.106030C>G (p.Leu35344Val)
c.101107C>G (p.Leu33703Val)
n.446+6949G>C
n.220-5147G>C
c.105127C>G (p.Leu35043Val)
c.79021C>G (p.Leu26341Val)
c.78880C>G (p.Leu26294Val)
c.104923C>G (p.Leu34975Val)
c.100321C>G (p.Leu33441Val)
c.100318C>G (p.Leu33440Val)
c.97360C>G (p.Leu32454Val)
c.78976C>G (p.Leu26326Val)
c.100471C>G (p.Leu33491Val)
c.100468C>G (p.Leu33490Val)
c.99901C>G (p.Leu33301Val)
c.97243C>G (p.Leu32415Val)
c.97162C>G (p.Leu32388Val)
c.78925C>G (p.Leu26309Val)
c.68779C>G (p.Leu22927Val)
2g.178530585G>TCA349407185TTN,TTN-AS1c.98326C>A (p.Leu32776Ile)
c.79411C>A (p.Leu26471Ile)
c.79210C>A (p.Leu26404Ile)
c.78835C>A (p.Leu26279Ile)
c.106030C>A (p.Leu35344Ile)
c.101107C>A (p.Leu33703Ile)
n.446+6949G>T
n.220-5147G>T
c.105127C>A (p.Leu35043Ile)
c.79021C>A (p.Leu26341Ile)
c.78880C>A (p.Leu26294Ile)
c.104923C>A (p.Leu34975Ile)
c.100321C>A (p.Leu33441Ile)
c.100318C>A (p.Leu33440Ile)
c.97360C>A (p.Leu32454Ile)
c.78976C>A (p.Leu26326Ile)
c.100471C>A (p.Leu33491Ile)
c.100468C>A (p.Leu33490Ile)
c.99901C>A (p.Leu33301Ile)
c.97243C>A (p.Leu32415Ile)
c.97162C>A (p.Leu32388Ile)
c.78925C>A (p.Leu26309Ile)
c.68779C>A (p.Leu22927Ile)
2g.178530586C>ACA349407188TTN,TTN-AS1c.98325G>T (p.Glu32775Asp)
c.79410G>T (p.Glu26470Asp)
c.79209G>T (p.Glu26403Asp)
c.78834G>T (p.Glu26278Asp)
c.106029G>T (p.Glu35343Asp)
c.101106G>T (p.Glu33702Asp)
n.446+6950C>A
n.220-5146C>A
c.105126G>T (p.Glu35042Asp)
c.79020G>T (p.Glu26340Asp)
c.78879G>T (p.Glu26293Asp)
c.104922G>T (p.Glu34974Asp)
c.100320G>T (p.Glu33440Asp)
c.100317G>T (p.Glu33439Asp)
c.97359G>T (p.Glu32453Asp)
c.78975G>T (p.Glu26325Asp)
c.100470G>T (p.Glu33490Asp)
c.100467G>T (p.Glu33489Asp)
c.99900G>T (p.Glu33300Asp)
c.97242G>T (p.Glu32414Asp)
c.97161G>T (p.Glu32387Asp)
c.78924G>T (p.Glu26308Asp)
c.68778G>T (p.Glu22926Asp)
2g.178530586C=CA1310514778TTN,TTN-AS1c.98325G= (p.Glu32775=)
c.79410G= (p.Glu26470=)
c.79209G= (p.Glu26403=)
c.78834G= (p.Glu26278=)
c.106029G= (p.Glu35343=)
c.101106G= (p.Glu33702=)
n.446+6950C=
n.220-5146C=
c.105126G= (p.Glu35042=)
c.79020G= (p.Glu26340=)
c.78879G= (p.Glu26293=)
c.104922G= (p.Glu34974=)
c.100320G= (p.Glu33440=)
c.100317G= (p.Glu33439=)
c.97359G= (p.Glu32453=)
c.78975G= (p.Glu26325=)
c.100470G= (p.Glu33490=)
c.100467G= (p.Glu33489=)
c.99900G= (p.Glu33300=)
c.97242G= (p.Glu32414=)
c.97161G= (p.Glu32387=)
c.78924G= (p.Glu26308=)
c.68778G= (p.Glu22926=)
2g.178530586C>GCA60953491TTN,TTN-AS1c.98325G>C (p.Glu32775Asp)
c.79410G>C (p.Glu26470Asp)
c.79209G>C (p.Glu26403Asp)
c.78834G>C (p.Glu26278Asp)
c.106029G>C (p.Glu35343Asp)
c.101106G>C (p.Glu33702Asp)
n.446+6950C>G
n.220-5146C>G
c.105126G>C (p.Glu35042Asp)
c.79020G>C (p.Glu26340Asp)
c.78879G>C (p.Glu26293Asp)
c.104922G>C (p.Glu34974Asp)
c.100320G>C (p.Glu33440Asp)
c.100317G>C (p.Glu33439Asp)
c.97359G>C (p.Glu32453Asp)
c.78975G>C (p.Glu26325Asp)
c.100470G>C (p.Glu33490Asp)
c.100467G>C (p.Glu33489Asp)
c.99900G>C (p.Glu33300Asp)
c.97242G>C (p.Glu32414Asp)
c.97161G>C (p.Glu32387Asp)
c.78924G>C (p.Glu26308Asp)
c.68778G>C (p.Glu22926Asp)
 dbSNP
2g.178530586C>TCA430235463TTN,TTN-AS1c.98325G>A (p.Glu32775=)
c.79410G>A (p.Glu26470=)
c.79209G>A (p.Glu26403=)
c.78834G>A (p.Glu26278=)
c.106029G>A (p.Glu35343=)
c.101106G>A (p.Glu33702=)
n.446+6950C>T
n.220-5146C>T
c.105126G>A (p.Glu35042=)
c.79020G>A (p.Glu26340=)
c.78879G>A (p.Glu26293=)
c.104922G>A (p.Glu34974=)
c.100320G>A (p.Glu33440=)
c.100317G>A (p.Glu33439=)
c.97359G>A (p.Glu32453=)
c.78975G>A (p.Glu26325=)
c.100470G>A (p.Glu33490=)
c.100467G>A (p.Glu33489=)
c.99900G>A (p.Glu33300=)
c.97242G>A (p.Glu32414=)
c.97161G>A (p.Glu32387=)
c.78924G>A (p.Glu26308=)
c.68778G>A (p.Glu22926=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178530587T>ACA349407189TTN,TTN-AS1c.98324A>T (p.Glu32775Val)
c.79409A>T (p.Glu26470Val)
c.79208A>T (p.Glu26403Val)
c.78833A>T (p.Glu26278Val)
c.106028A>T (p.Glu35343Val)
c.101105A>T (p.Glu33702Val)
n.446+6951T>A
n.220-5145T>A
c.105125A>T (p.Glu35042Val)
c.79019A>T (p.Glu26340Val)
c.78878A>T (p.Glu26293Val)
c.104921A>T (p.Glu34974Val)
c.100319A>T (p.Glu33440Val)
c.100316A>T (p.Glu33439Val)
c.97358A>T (p.Glu32453Val)
c.78974A>T (p.Glu26325Val)
c.100469A>T (p.Glu33490Val)
c.100466A>T (p.Glu33489Val)
c.99899A>T (p.Glu33300Val)
c.97241A>T (p.Glu32414Val)
c.97160A>T (p.Glu32387Val)
c.78923A>T (p.Glu26308Val)
c.68777A>T (p.Glu22926Val)
2g.178530587T>CCA237605TTN,TTN-AS1c.98324A>G (p.Glu32775Gly)
c.79409A>G (p.Glu26470Gly)
c.79208A>G (p.Glu26403Gly)
c.78833A>G (p.Glu26278Gly)
c.106028A>G (p.Glu35343Gly)
c.101105A>G (p.Glu33702Gly)
n.446+6951T>C
n.220-5145T>C
c.105125A>G (p.Glu35042Gly)
c.79019A>G (p.Glu26340Gly)
c.78878A>G (p.Glu26293Gly)
c.104921A>G (p.Glu34974Gly)
c.100319A>G (p.Glu33440Gly)
c.100316A>G (p.Glu33439Gly)
c.97358A>G (p.Glu32453Gly)
c.78974A>G (p.Glu26325Gly)
c.100469A>G (p.Glu33490Gly)
c.100466A>G (p.Glu33489Gly)
c.99899A>G (p.Glu33300Gly)
c.97241A>G (p.Glu32414Gly)
c.97160A>G (p.Glu32387Gly)
c.78923A>G (p.Glu26308Gly)
c.68777A>G (p.Glu22926Gly)
 ClinVar dbSNP
2g.178530587T>GCA349407190TTN,TTN-AS1c.98324A>C (p.Glu32775Ala)
c.79409A>C (p.Glu26470Ala)
c.79208A>C (p.Glu26403Ala)
c.78833A>C (p.Glu26278Ala)
c.106028A>C (p.Glu35343Ala)
c.101105A>C (p.Glu33702Ala)
n.446+6951T>G
n.220-5145T>G
c.105125A>C (p.Glu35042Ala)
c.79019A>C (p.Glu26340Ala)
c.78878A>C (p.Glu26293Ala)
c.104921A>C (p.Glu34974Ala)
c.100319A>C (p.Glu33440Ala)
c.100316A>C (p.Glu33439Ala)
c.97358A>C (p.Glu32453Ala)
c.78974A>C (p.Glu26325Ala)
c.100469A>C (p.Glu33490Ala)
c.100466A>C (p.Glu33489Ala)
c.99899A>C (p.Glu33300Ala)
c.97241A>C (p.Glu32414Ala)
c.97160A>C (p.Glu32387Ala)
c.78923A>C (p.Glu26308Ala)
c.68777A>C (p.Glu22926Ala)
2g.178530587T=CA1310514780TTN,TTN-AS1c.98324A= (p.Glu32775=)
c.79409A= (p.Glu26470=)
c.79208A= (p.Glu26403=)
c.78833A= (p.Glu26278=)
c.106028A= (p.Glu35343=)
c.101105A= (p.Glu33702=)
n.446+6951T=
n.220-5145T=
c.105125A= (p.Glu35042=)
c.79019A= (p.Glu26340=)
c.78878A= (p.Glu26293=)
c.104921A= (p.Glu34974=)
c.100319A= (p.Glu33440=)
c.100316A= (p.Glu33439=)
c.97358A= (p.Glu32453=)
c.78974A= (p.Glu26325=)
c.100469A= (p.Glu33490=)
c.100466A= (p.Glu33489=)
c.99899A= (p.Glu33300=)
c.97241A= (p.Glu32414=)
c.97160A= (p.Glu32387=)
c.78923A= (p.Glu26308=)
c.68777A= (p.Glu22926=)
2g.178530588C>ACA349407191TTN,TTN-AS1c.98323G>T (p.Glu32775Ter)
c.79408G>T (p.Glu26470Ter)
c.79207G>T (p.Glu26403Ter)
c.78832G>T (p.Glu26278Ter)
c.106027G>T (p.Glu35343Ter)
c.101104G>T (p.Glu33702Ter)
n.446+6952C>A
n.220-5144C>A
c.105124G>T (p.Glu35042Ter)
c.79018G>T (p.Glu26340Ter)
c.78877G>T (p.Glu26293Ter)
c.104920G>T (p.Glu34974Ter)
c.100318G>T (p.Glu33440Ter)
c.100315G>T (p.Glu33439Ter)
c.97357G>T (p.Glu32453Ter)
c.78973G>T (p.Glu26325Ter)
c.100468G>T (p.Glu33490Ter)
c.100465G>T (p.Glu33489Ter)
c.99898G>T (p.Glu33300Ter)
c.97240G>T (p.Glu32414Ter)
c.97159G>T (p.Glu32387Ter)
c.78922G>T (p.Glu26308Ter)
c.68776G>T (p.Glu22926Ter)
 gnomAD v4
2g.178530588C=CA1310514784TTN,TTN-AS1c.98323G= (p.Glu32775=)
c.79408G= (p.Glu26470=)
c.79207G= (p.Glu26403=)
c.78832G= (p.Glu26278=)
c.106027G= (p.Glu35343=)
c.101104G= (p.Glu33702=)
n.446+6952C=
n.220-5144C=
c.105124G= (p.Glu35042=)
c.79018G= (p.Glu26340=)
c.78877G= (p.Glu26293=)
c.104920G= (p.Glu34974=)
c.100318G= (p.Glu33440=)
c.100315G= (p.Glu33439=)
c.97357G= (p.Glu32453=)
c.78973G= (p.Glu26325=)
c.100468G= (p.Glu33490=)
c.100465G= (p.Glu33489=)
c.99898G= (p.Glu33300=)
c.97240G= (p.Glu32414=)
c.97159G= (p.Glu32387=)
c.78922G= (p.Glu26308=)
c.68776G= (p.Glu22926=)
2g.178530588C>GCA349407192TTN,TTN-AS1c.98323G>C (p.Glu32775Gln)
c.79408G>C (p.Glu26470Gln)
c.79207G>C (p.Glu26403Gln)
c.78832G>C (p.Glu26278Gln)
c.106027G>C (p.Glu35343Gln)
c.101104G>C (p.Glu33702Gln)
n.446+6952C>G
n.220-5144C>G
c.105124G>C (p.Glu35042Gln)
c.79018G>C (p.Glu26340Gln)
c.78877G>C (p.Glu26293Gln)
c.104920G>C (p.Glu34974Gln)
c.100318G>C (p.Glu33440Gln)
c.100315G>C (p.Glu33439Gln)
c.97357G>C (p.Glu32453Gln)
c.78973G>C (p.Glu26325Gln)
c.100468G>C (p.Glu33490Gln)
c.100465G>C (p.Glu33489Gln)
c.99898G>C (p.Glu33300Gln)
c.97240G>C (p.Glu32414Gln)
c.97159G>C (p.Glu32387Gln)
c.78922G>C (p.Glu26308Gln)
c.68776G>C (p.Glu22926Gln)
2g.178530588C>TCA1985175TTN,TTN-AS1c.98323G>A (p.Glu32775Lys)
c.79408G>A (p.Glu26470Lys)
c.79207G>A (p.Glu26403Lys)
c.78832G>A (p.Glu26278Lys)
c.106027G>A (p.Glu35343Lys)
c.101104G>A (p.Glu33702Lys)
n.446+6952C>T
n.220-5144C>T
c.105124G>A (p.Glu35042Lys)
c.79018G>A (p.Glu26340Lys)
c.78877G>A (p.Glu26293Lys)
c.104920G>A (p.Glu34974Lys)
c.100318G>A (p.Glu33440Lys)
c.100315G>A (p.Glu33439Lys)
c.97357G>A (p.Glu32453Lys)
c.78973G>A (p.Glu26325Lys)
c.100468G>A (p.Glu33490Lys)
c.100465G>A (p.Glu33489Lys)
c.99898G>A (p.Glu33300Lys)
c.97240G>A (p.Glu32414Lys)
c.97159G>A (p.Glu32387Lys)
c.78922G>A (p.Glu26308Lys)
c.68776G>A (p.Glu22926Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530589A>CCA349407193TTN,TTN-AS1c.98322T>G (p.Tyr32774Ter)
c.79407T>G (p.Tyr26469Ter)
c.79206T>G (p.Tyr26402Ter)
c.78831T>G (p.Tyr26277Ter)
c.106026T>G (p.Tyr35342Ter)
c.101103T>G (p.Tyr33701Ter)
n.446+6953A>C
n.220-5143A>C
c.105123T>G (p.Tyr35041Ter)
c.79017T>G (p.Tyr26339Ter)
c.78876T>G (p.Tyr26292Ter)
c.104919T>G (p.Tyr34973Ter)
c.100317T>G (p.Tyr33439Ter)
c.100314T>G (p.Tyr33438Ter)
c.97356T>G (p.Tyr32452Ter)
c.78972T>G (p.Tyr26324Ter)
c.100467T>G (p.Tyr33489Ter)
c.100464T>G (p.Tyr33488Ter)
c.99897T>G (p.Tyr33299Ter)
c.97239T>G (p.Tyr32413Ter)
c.97158T>G (p.Tyr32386Ter)
c.78921T>G (p.Tyr26307Ter)
c.68775T>G (p.Tyr22925Ter)
2g.178530589A>GCA430235479TTN,TTN-AS1c.98322T>C (p.Tyr32774=)
c.79407T>C (p.Tyr26469=)
c.79206T>C (p.Tyr26402=)
c.78831T>C (p.Tyr26277=)
c.106026T>C (p.Tyr35342=)
c.101103T>C (p.Tyr33701=)
n.446+6953A>G
n.220-5143A>G
c.105123T>C (p.Tyr35041=)
c.79017T>C (p.Tyr26339=)
c.78876T>C (p.Tyr26292=)
c.104919T>C (p.Tyr34973=)
c.100317T>C (p.Tyr33439=)
c.100314T>C (p.Tyr33438=)
c.97356T>C (p.Tyr32452=)
c.78972T>C (p.Tyr26324=)
c.100467T>C (p.Tyr33489=)
c.100464T>C (p.Tyr33488=)
c.99897T>C (p.Tyr33299=)
c.97239T>C (p.Tyr32413=)
c.97158T>C (p.Tyr32386=)
c.78921T>C (p.Tyr26307=)
c.68775T>C (p.Tyr22925=)
 gnomAD v4
2g.178530589A>TCA349407194TTN,TTN-AS1c.98322T>A (p.Tyr32774Ter)
c.79407T>A (p.Tyr26469Ter)
c.79206T>A (p.Tyr26402Ter)
c.78831T>A (p.Tyr26277Ter)
c.106026T>A (p.Tyr35342Ter)
c.101103T>A (p.Tyr33701Ter)
n.446+6953A>T
n.220-5143A>T
c.105123T>A (p.Tyr35041Ter)
c.79017T>A (p.Tyr26339Ter)
c.78876T>A (p.Tyr26292Ter)
c.104919T>A (p.Tyr34973Ter)
c.100317T>A (p.Tyr33439Ter)
c.100314T>A (p.Tyr33438Ter)
c.97356T>A (p.Tyr32452Ter)
c.78972T>A (p.Tyr26324Ter)
c.100467T>A (p.Tyr33489Ter)
c.100464T>A (p.Tyr33488Ter)
c.99897T>A (p.Tyr33299Ter)
c.97239T>A (p.Tyr32413Ter)
c.97158T>A (p.Tyr32386Ter)
c.78921T>A (p.Tyr26307Ter)
c.68775T>A (p.Tyr22925Ter)
2g.178530590T>ACA349407195TTN,TTN-AS1c.98321A>T (p.Tyr32774Phe)
c.79406A>T (p.Tyr26469Phe)
c.79205A>T (p.Tyr26402Phe)
c.78830A>T (p.Tyr26277Phe)
c.106025A>T (p.Tyr35342Phe)
c.101102A>T (p.Tyr33701Phe)
n.446+6954T>A
n.220-5142T>A
c.105122A>T (p.Tyr35041Phe)
c.79016A>T (p.Tyr26339Phe)
c.78875A>T (p.Tyr26292Phe)
c.104918A>T (p.Tyr34973Phe)
c.100316A>T (p.Tyr33439Phe)
c.100313A>T (p.Tyr33438Phe)
c.97355A>T (p.Tyr32452Phe)
c.78971A>T (p.Tyr26324Phe)
c.100466A>T (p.Tyr33489Phe)
c.100463A>T (p.Tyr33488Phe)
c.99896A>T (p.Tyr33299Phe)
c.97238A>T (p.Tyr32413Phe)
c.97157A>T (p.Tyr32386Phe)
c.78920A>T (p.Tyr26307Phe)
c.68774A>T (p.Tyr22925Phe)
2g.178530590T>CCA16610281TTN,TTN-AS1c.98321A>G (p.Tyr32774Cys)
c.79406A>G (p.Tyr26469Cys)
c.79205A>G (p.Tyr26402Cys)
c.78830A>G (p.Tyr26277Cys)
c.106025A>G (p.Tyr35342Cys)
c.101102A>G (p.Tyr33701Cys)
n.446+6954T>C
n.220-5142T>C
c.105122A>G (p.Tyr35041Cys)
c.79016A>G (p.Tyr26339Cys)
c.78875A>G (p.Tyr26292Cys)
c.104918A>G (p.Tyr34973Cys)
c.100316A>G (p.Tyr33439Cys)
c.100313A>G (p.Tyr33438Cys)
c.97355A>G (p.Tyr32452Cys)
c.78971A>G (p.Tyr26324Cys)
c.100466A>G (p.Tyr33489Cys)
c.100463A>G (p.Tyr33488Cys)
c.99896A>G (p.Tyr33299Cys)
c.97238A>G (p.Tyr32413Cys)
c.97157A>G (p.Tyr32386Cys)
c.78920A>G (p.Tyr26307Cys)
c.68774A>G (p.Tyr22925Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178530590T>GCA349407196TTN,TTN-AS1c.98321A>C (p.Tyr32774Ser)
c.79406A>C (p.Tyr26469Ser)
c.79205A>C (p.Tyr26402Ser)
c.78830A>C (p.Tyr26277Ser)
c.106025A>C (p.Tyr35342Ser)
c.101102A>C (p.Tyr33701Ser)
n.446+6954T>G
n.220-5142T>G
c.105122A>C (p.Tyr35041Ser)
c.79016A>C (p.Tyr26339Ser)
c.78875A>C (p.Tyr26292Ser)
c.104918A>C (p.Tyr34973Ser)
c.100316A>C (p.Tyr33439Ser)
c.100313A>C (p.Tyr33438Ser)
c.97355A>C (p.Tyr32452Ser)
c.78971A>C (p.Tyr26324Ser)
c.100466A>C (p.Tyr33489Ser)
c.100463A>C (p.Tyr33488Ser)
c.99896A>C (p.Tyr33299Ser)
c.97238A>C (p.Tyr32413Ser)
c.97157A>C (p.Tyr32386Ser)
c.78920A>C (p.Tyr26307Ser)
c.68774A>C (p.Tyr22925Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.178530590T=CA1310514788TTN,TTN-AS1c.98321A= (p.Tyr32774=)
c.79406A= (p.Tyr26469=)
c.79205A= (p.Tyr26402=)
c.78830A= (p.Tyr26277=)
c.106025A= (p.Tyr35342=)
c.101102A= (p.Tyr33701=)
n.446+6954T=
n.220-5142T=
c.105122A= (p.Tyr35041=)
c.79016A= (p.Tyr26339=)
c.78875A= (p.Tyr26292=)
c.104918A= (p.Tyr34973=)
c.100316A= (p.Tyr33439=)
c.100313A= (p.Tyr33438=)
c.97355A= (p.Tyr32452=)
c.78971A= (p.Tyr26324=)
c.100466A= (p.Tyr33489=)
c.100463A= (p.Tyr33488=)
c.99896A= (p.Tyr33299=)
c.97238A= (p.Tyr32413=)
c.97157A= (p.Tyr32386=)
c.78920A= (p.Tyr26307=)
c.68774A= (p.Tyr22925=)
2g.178530590_178530591delinsTACA1310514787TTN,TTN-AS1c.98320_98321delinsTA (p.Tyr32774=)
c.79405_79406delinsTA (p.Tyr26469=)
c.79204_79205delinsTA (p.Tyr26402=)
c.78829_78830delinsTA (p.Tyr26277=)
c.106024_106025delinsTA (p.Tyr35342=)
c.101101_101102delinsTA (p.Tyr33701=)
n.446+6954_446+6955delinsTA
n.220-5142_220-5141delinsTA
c.105121_105122delinsTA (p.Tyr35041=)
c.79015_79016delinsTA (p.Tyr26339=)
c.78874_78875delinsTA (p.Tyr26292=)
c.104917_104918delinsTA (p.Tyr34973=)
c.100315_100316delinsTA (p.Tyr33439=)
c.100312_100313delinsTA (p.Tyr33438=)
c.97354_97355delinsTA (p.Tyr32452=)
c.78970_78971delinsTA (p.Tyr26324=)
c.100465_100466delinsTA (p.Tyr33489=)
c.100462_100463delinsTA (p.Tyr33488=)
c.99895_99896delinsTA (p.Tyr33299=)
c.97237_97238delinsTA (p.Tyr32413=)
c.97156_97157delinsTA (p.Tyr32386=)
c.78919_78920delinsTA (p.Tyr26307=)
c.68773_68774delinsTA (p.Tyr22925=)
2g.178530591delCA1985176TTN,TTN-AS1c.98320del (p.Tyr32774MetfsTer?)
c.79405del (p.Tyr26469MetfsTer?)
c.79204del (p.Tyr26402MetfsTer?)
c.78829del (p.Tyr26277MetfsTer?)
c.106024del (p.Tyr35342MetfsTer?)
c.101101del (p.Tyr33701MetfsTer?)
n.446+6955del
n.220-5141del
c.105121del (p.Tyr35041MetfsTer?)
c.79015del (p.Tyr26339MetfsTer?)
c.78874del (p.Tyr26292MetfsTer?)
c.104917del (p.Tyr34973MetfsTer?)
c.100315del (p.Tyr33439MetfsTer?)
c.100312del (p.Tyr33438MetfsTer?)
c.97354del (p.Tyr32452MetfsTer?)
c.78970del (p.Tyr26324MetfsTer?)
c.100465del (p.Tyr33489MetfsTer?)
c.100462del (p.Tyr33488MetfsTer?)
c.99895del (p.Tyr33299MetfsTer?)
c.97237del (p.Tyr32413MetfsTer?)
c.97156del (p.Tyr32386MetfsTer?)
c.78919del (p.Tyr26307MetfsTer?)
c.68773del (p.Tyr22925MetfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530591A>CCA349407199TTN,TTN-AS1c.98320T>G (p.Tyr32774Asp)
c.79405T>G (p.Tyr26469Asp)
c.79204T>G (p.Tyr26402Asp)
c.78829T>G (p.Tyr26277Asp)
c.106024T>G (p.Tyr35342Asp)
c.101101T>G (p.Tyr33701Asp)
n.446+6955A>C
n.220-5141A>C
c.105121T>G (p.Tyr35041Asp)
c.79015T>G (p.Tyr26339Asp)
c.78874T>G (p.Tyr26292Asp)
c.104917T>G (p.Tyr34973Asp)
c.100315T>G (p.Tyr33439Asp)
c.100312T>G (p.Tyr33438Asp)
c.97354T>G (p.Tyr32452Asp)
c.78970T>G (p.Tyr26324Asp)
c.100465T>G (p.Tyr33489Asp)
c.100462T>G (p.Tyr33488Asp)
c.99895T>G (p.Tyr33299Asp)
c.97237T>G (p.Tyr32413Asp)
c.97156T>G (p.Tyr32386Asp)
c.78919T>G (p.Tyr26307Asp)
c.68773T>G (p.Tyr22925Asp)
2g.178530591A>GCA349407197TTN,TTN-AS1c.98320T>C (p.Tyr32774His)
c.79405T>C (p.Tyr26469His)
c.79204T>C (p.Tyr26402His)
c.78829T>C (p.Tyr26277His)
c.106024T>C (p.Tyr35342His)
c.101101T>C (p.Tyr33701His)
n.446+6955A>G
n.220-5141A>G
c.105121T>C (p.Tyr35041His)
c.79015T>C (p.Tyr26339His)
c.78874T>C (p.Tyr26292His)
c.104917T>C (p.Tyr34973His)
c.100315T>C (p.Tyr33439His)
c.100312T>C (p.Tyr33438His)
c.97354T>C (p.Tyr32452His)
c.78970T>C (p.Tyr26324His)
c.100465T>C (p.Tyr33489His)
c.100462T>C (p.Tyr33488His)
c.99895T>C (p.Tyr33299His)
c.97237T>C (p.Tyr32413His)
c.97156T>C (p.Tyr32386His)
c.78919T>C (p.Tyr26307His)
c.68773T>C (p.Tyr22925His)
2g.178530591A>TCA349407198TTN,TTN-AS1c.98320T>A (p.Tyr32774Asn)
c.79405T>A (p.Tyr26469Asn)
c.79204T>A (p.Tyr26402Asn)
c.78829T>A (p.Tyr26277Asn)
c.106024T>A (p.Tyr35342Asn)
c.101101T>A (p.Tyr33701Asn)
n.446+6955A>T
n.220-5141A>T
c.105121T>A (p.Tyr35041Asn)
c.79015T>A (p.Tyr26339Asn)
c.78874T>A (p.Tyr26292Asn)
c.104917T>A (p.Tyr34973Asn)
c.100315T>A (p.Tyr33439Asn)
c.100312T>A (p.Tyr33438Asn)
c.97354T>A (p.Tyr32452Asn)
c.78970T>A (p.Tyr26324Asn)
c.100465T>A (p.Tyr33489Asn)
c.100462T>A (p.Tyr33488Asn)
c.99895T>A (p.Tyr33299Asn)
c.97237T>A (p.Tyr32413Asn)
c.97156T>A (p.Tyr32386Asn)
c.78919T>A (p.Tyr26307Asn)
c.68773T>A (p.Tyr22925Asn)
2g.178530592G>ACA430235487TTN,TTN-AS1c.98319C>T (p.Thr32773=)
c.79404C>T (p.Thr26468=)
c.79203C>T (p.Thr26401=)
c.78828C>T (p.Thr26276=)
c.106023C>T (p.Thr35341=)
c.101100C>T (p.Thr33700=)
n.446+6956G>A
n.220-5140G>A
c.105120C>T (p.Thr35040=)
c.79014C>T (p.Thr26338=)
c.78873C>T (p.Thr26291=)
c.104916C>T (p.Thr34972=)
c.100314C>T (p.Thr33438=)
c.100311C>T (p.Thr33437=)
c.97353C>T (p.Thr32451=)
c.78969C>T (p.Thr26323=)
c.100464C>T (p.Thr33488=)
c.100461C>T (p.Thr33487=)
c.99894C>T (p.Thr33298=)
c.97236C>T (p.Thr32412=)
c.97155C>T (p.Thr32385=)
c.78918C>T (p.Thr26306=)
c.68772C>T (p.Thr22924=)
2g.178530592G>CCA430235488TTN,TTN-AS1c.98319C>G (p.Thr32773=)
c.79404C>G (p.Thr26468=)
c.79203C>G (p.Thr26401=)
c.78828C>G (p.Thr26276=)
c.106023C>G (p.Thr35341=)
c.101100C>G (p.Thr33700=)
n.446+6956G>C
n.220-5140G>C
c.105120C>G (p.Thr35040=)
c.79014C>G (p.Thr26338=)
c.78873C>G (p.Thr26291=)
c.104916C>G (p.Thr34972=)
c.100314C>G (p.Thr33438=)
c.100311C>G (p.Thr33437=)
c.97353C>G (p.Thr32451=)
c.78969C>G (p.Thr26323=)
c.100464C>G (p.Thr33488=)
c.100461C>G (p.Thr33487=)
c.99894C>G (p.Thr33298=)
c.97236C>G (p.Thr32412=)
c.97155C>G (p.Thr32385=)
c.78918C>G (p.Thr26306=)
c.68772C>G (p.Thr22924=)
2g.178530592G=CA1310514793TTN,TTN-AS1c.98319C= (p.Thr32773=)
c.79404C= (p.Thr26468=)
c.79203C= (p.Thr26401=)
c.78828C= (p.Thr26276=)
c.106023C= (p.Thr35341=)
c.101100C= (p.Thr33700=)
n.446+6956G=
n.220-5140G=
c.105120C= (p.Thr35040=)
c.79014C= (p.Thr26338=)
c.78873C= (p.Thr26291=)
c.104916C= (p.Thr34972=)
c.100314C= (p.Thr33438=)
c.100311C= (p.Thr33437=)
c.97353C= (p.Thr32451=)
c.78969C= (p.Thr26323=)
c.100464C= (p.Thr33488=)
c.100461C= (p.Thr33487=)
c.99894C= (p.Thr33298=)
c.97236C= (p.Thr32412=)
c.97155C= (p.Thr32385=)
c.78918C= (p.Thr26306=)
c.68772C= (p.Thr22924=)
2g.178530592G>TCA1985177TTN,TTN-AS1c.98319C>A (p.Thr32773=)
c.79404C>A (p.Thr26468=)
c.79203C>A (p.Thr26401=)
c.78828C>A (p.Thr26276=)
c.106023C>A (p.Thr35341=)
c.101100C>A (p.Thr33700=)
n.446+6956G>T
n.220-5140G>T
c.105120C>A (p.Thr35040=)
c.79014C>A (p.Thr26338=)
c.78873C>A (p.Thr26291=)
c.104916C>A (p.Thr34972=)
c.100314C>A (p.Thr33438=)
c.100311C>A (p.Thr33437=)
c.97353C>A (p.Thr32451=)
c.78969C>A (p.Thr26323=)
c.100464C>A (p.Thr33488=)
c.100461C>A (p.Thr33487=)
c.99894C>A (p.Thr33298=)
c.97236C>A (p.Thr32412=)
c.97155C>A (p.Thr32385=)
c.78918C>A (p.Thr26306=)
c.68772C>A (p.Thr22924=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530593G>ACA349407200TTN,TTN-AS1c.98318C>T (p.Thr32773Ile)
c.79403C>T (p.Thr26468Ile)
c.79202C>T (p.Thr26401Ile)
c.78827C>T (p.Thr26276Ile)
c.106022C>T (p.Thr35341Ile)
c.101099C>T (p.Thr33700Ile)
n.446+6957G>A
n.220-5139G>A
c.105119C>T (p.Thr35040Ile)
c.79013C>T (p.Thr26338Ile)
c.78872C>T (p.Thr26291Ile)
c.104915C>T (p.Thr34972Ile)
c.100313C>T (p.Thr33438Ile)
c.100310C>T (p.Thr33437Ile)
c.97352C>T (p.Thr32451Ile)
c.78968C>T (p.Thr26323Ile)
c.100463C>T (p.Thr33488Ile)
c.100460C>T (p.Thr33487Ile)
c.99893C>T (p.Thr33298Ile)
c.97235C>T (p.Thr32412Ile)
c.97154C>T (p.Thr32385Ile)
c.78917C>T (p.Thr26306Ile)
c.68771C>T (p.Thr22924Ile)
2g.178530593G>CCA349407201TTN,TTN-AS1c.98318C>G (p.Thr32773Ser)
c.79403C>G (p.Thr26468Ser)
c.79202C>G (p.Thr26401Ser)
c.78827C>G (p.Thr26276Ser)
c.106022C>G (p.Thr35341Ser)
c.101099C>G (p.Thr33700Ser)
n.446+6957G>C
n.220-5139G>C
c.105119C>G (p.Thr35040Ser)
c.79013C>G (p.Thr26338Ser)
c.78872C>G (p.Thr26291Ser)
c.104915C>G (p.Thr34972Ser)
c.100313C>G (p.Thr33438Ser)
c.100310C>G (p.Thr33437Ser)
c.97352C>G (p.Thr32451Ser)
c.78968C>G (p.Thr26323Ser)
c.100463C>G (p.Thr33488Ser)
c.100460C>G (p.Thr33487Ser)
c.99893C>G (p.Thr33298Ser)
c.97235C>G (p.Thr32412Ser)
c.97154C>G (p.Thr32385Ser)
c.78917C>G (p.Thr26306Ser)
c.68771C>G (p.Thr22924Ser)
 ClinVar
2g.178530593G>TCA349407202TTN,TTN-AS1c.98318C>A (p.Thr32773Asn)
c.79403C>A (p.Thr26468Asn)
c.79202C>A (p.Thr26401Asn)
c.78827C>A (p.Thr26276Asn)
c.106022C>A (p.Thr35341Asn)
c.101099C>A (p.Thr33700Asn)
n.446+6957G>T
n.220-5139G>T
c.105119C>A (p.Thr35040Asn)
c.79013C>A (p.Thr26338Asn)
c.78872C>A (p.Thr26291Asn)
c.104915C>A (p.Thr34972Asn)
c.100313C>A (p.Thr33438Asn)
c.100310C>A (p.Thr33437Asn)
c.97352C>A (p.Thr32451Asn)
c.78968C>A (p.Thr26323Asn)
c.100463C>A (p.Thr33488Asn)
c.100460C>A (p.Thr33487Asn)
c.99893C>A (p.Thr33298Asn)
c.97235C>A (p.Thr32412Asn)
c.97154C>A (p.Thr32385Asn)
c.78917C>A (p.Thr26306Asn)
c.68771C>A (p.Thr22924Asn)
2g.178530594T>ACA349407203TTN,TTN-AS1c.98317A>T (p.Thr32773Ser)
c.79402A>T (p.Thr26468Ser)
c.79201A>T (p.Thr26401Ser)
c.78826A>T (p.Thr26276Ser)
c.106021A>T (p.Thr35341Ser)
c.101098A>T (p.Thr33700Ser)
n.446+6958T>A
n.220-5138T>A
c.105118A>T (p.Thr35040Ser)
c.79012A>T (p.Thr26338Ser)
c.78871A>T (p.Thr26291Ser)
c.104914A>T (p.Thr34972Ser)
c.100312A>T (p.Thr33438Ser)
c.100309A>T (p.Thr33437Ser)
c.97351A>T (p.Thr32451Ser)
c.78967A>T (p.Thr26323Ser)
c.100462A>T (p.Thr33488Ser)
c.100459A>T (p.Thr33487Ser)
c.99892A>T (p.Thr33298Ser)
c.97234A>T (p.Thr32412Ser)
c.97153A>T (p.Thr32385Ser)
c.78916A>T (p.Thr26306Ser)
c.68770A>T (p.Thr22924Ser)
2g.178530594T>CCA349407204TTN,TTN-AS1c.98317A>G (p.Thr32773Ala)
c.79402A>G (p.Thr26468Ala)
c.79201A>G (p.Thr26401Ala)
c.78826A>G (p.Thr26276Ala)
c.106021A>G (p.Thr35341Ala)
c.101098A>G (p.Thr33700Ala)
n.446+6958T>C
n.220-5138T>C
c.105118A>G (p.Thr35040Ala)
c.79012A>G (p.Thr26338Ala)
c.78871A>G (p.Thr26291Ala)
c.104914A>G (p.Thr34972Ala)
c.100312A>G (p.Thr33438Ala)
c.100309A>G (p.Thr33437Ala)
c.97351A>G (p.Thr32451Ala)
c.78967A>G (p.Thr26323Ala)
c.100462A>G (p.Thr33488Ala)
c.100459A>G (p.Thr33487Ala)
c.99892A>G (p.Thr33298Ala)
c.97234A>G (p.Thr32412Ala)
c.97153A>G (p.Thr32385Ala)
c.78916A>G (p.Thr26306Ala)
c.68770A>G (p.Thr22924Ala)
2g.178530594T>GCA349407205TTN,TTN-AS1c.98317A>C (p.Thr32773Pro)
c.79402A>C (p.Thr26468Pro)
c.79201A>C (p.Thr26401Pro)
c.78826A>C (p.Thr26276Pro)
c.106021A>C (p.Thr35341Pro)
c.101098A>C (p.Thr33700Pro)
n.446+6958T>G
n.220-5138T>G
c.105118A>C (p.Thr35040Pro)
c.79012A>C (p.Thr26338Pro)
c.78871A>C (p.Thr26291Pro)
c.104914A>C (p.Thr34972Pro)
c.100312A>C (p.Thr33438Pro)
c.100309A>C (p.Thr33437Pro)
c.97351A>C (p.Thr32451Pro)
c.78967A>C (p.Thr26323Pro)
c.100462A>C (p.Thr33488Pro)
c.100459A>C (p.Thr33487Pro)
c.99892A>C (p.Thr33298Pro)
c.97234A>C (p.Thr32412Pro)
c.97153A>C (p.Thr32385Pro)
c.78916A>C (p.Thr26306Pro)
c.68770A>C (p.Thr22924Pro)
2g.178530595A=CA1310514796TTN,TTN-AS1c.98316T= (p.Gly32772=)
c.79401T= (p.Gly26467=)
c.79200T= (p.Gly26400=)
c.78825T= (p.Gly26275=)
c.106020T= (p.Gly35340=)
c.101097T= (p.Gly33699=)
n.446+6959A=
n.220-5137A=
c.105117T= (p.Gly35039=)
c.79011T= (p.Gly26337=)
c.78870T= (p.Gly26290=)
c.104913T= (p.Gly34971=)
c.100311T= (p.Gly33437=)
c.100308T= (p.Gly33436=)
c.97350T= (p.Gly32450=)
c.78966T= (p.Gly26322=)
c.100461T= (p.Gly33487=)
c.100458T= (p.Gly33486=)
c.99891T= (p.Gly33297=)
c.97233T= (p.Gly32411=)
c.97152T= (p.Gly32384=)
c.78915T= (p.Gly26305=)
c.68769T= (p.Gly22923=)
2g.178530595A>CCA430235498TTN,TTN-AS1c.98316T>G (p.Gly32772=)
c.79401T>G (p.Gly26467=)
c.79200T>G (p.Gly26400=)
c.78825T>G (p.Gly26275=)
c.106020T>G (p.Gly35340=)
c.101097T>G (p.Gly33699=)
n.446+6959A>C
n.220-5137A>C
c.105117T>G (p.Gly35039=)
c.79011T>G (p.Gly26337=)
c.78870T>G (p.Gly26290=)
c.104913T>G (p.Gly34971=)
c.100311T>G (p.Gly33437=)
c.100308T>G (p.Gly33436=)
c.97350T>G (p.Gly32450=)
c.78966T>G (p.Gly26322=)
c.100461T>G (p.Gly33487=)
c.100458T>G (p.Gly33486=)
c.99891T>G (p.Gly33297=)
c.97233T>G (p.Gly32411=)
c.97152T>G (p.Gly32384=)
c.78915T>G (p.Gly26305=)
c.68769T>G (p.Gly22923=)
2g.178530595A>GCA1985178TTN,TTN-AS1c.98316T>C (p.Gly32772=)
c.79401T>C (p.Gly26467=)
c.79200T>C (p.Gly26400=)
c.78825T>C (p.Gly26275=)
c.106020T>C (p.Gly35340=)
c.101097T>C (p.Gly33699=)
n.446+6959A>G
n.220-5137A>G
c.105117T>C (p.Gly35039=)
c.79011T>C (p.Gly26337=)
c.78870T>C (p.Gly26290=)
c.104913T>C (p.Gly34971=)
c.100311T>C (p.Gly33437=)
c.100308T>C (p.Gly33436=)
c.97350T>C (p.Gly32450=)
c.78966T>C (p.Gly26322=)
c.100461T>C (p.Gly33487=)
c.100458T>C (p.Gly33486=)
c.99891T>C (p.Gly33297=)
c.97233T>C (p.Gly32411=)
c.97152T>C (p.Gly32384=)
c.78915T>C (p.Gly26305=)
c.68769T>C (p.Gly22923=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530595A>TCA430235499TTN,TTN-AS1c.98316T>A (p.Gly32772=)
c.79401T>A (p.Gly26467=)
c.79200T>A (p.Gly26400=)
c.78825T>A (p.Gly26275=)
c.106020T>A (p.Gly35340=)
c.101097T>A (p.Gly33699=)
n.446+6959A>T
n.220-5137A>T
c.105117T>A (p.Gly35039=)
c.79011T>A (p.Gly26337=)
c.78870T>A (p.Gly26290=)
c.104913T>A (p.Gly34971=)
c.100311T>A (p.Gly33437=)
c.100308T>A (p.Gly33436=)
c.97350T>A (p.Gly32450=)
c.78966T>A (p.Gly26322=)
c.100461T>A (p.Gly33487=)
c.100458T>A (p.Gly33486=)
c.99891T>A (p.Gly33297=)
c.97233T>A (p.Gly32411=)
c.97152T>A (p.Gly32384=)
c.78915T>A (p.Gly26305=)
c.68769T>A (p.Gly22923=)
2g.178530595_178530596delinsACCA1310514795TTN,TTN-AS1c.98315_98316delinsGT (p.Gly32772=)
c.79400_79401delinsGT (p.Gly26467=)
c.79199_79200delinsGT (p.Gly26400=)
c.78824_78825delinsGT (p.Gly26275=)
c.106019_106020delinsGT (p.Gly35340=)
c.101096_101097delinsGT (p.Gly33699=)
n.446+6959_446+6960delinsAC
n.220-5137_220-5136delinsAC
c.105116_105117delinsGT (p.Gly35039=)
c.79010_79011delinsGT (p.Gly26337=)
c.78869_78870delinsGT (p.Gly26290=)
c.104912_104913delinsGT (p.Gly34971=)
c.100310_100311delinsGT (p.Gly33437=)
c.100307_100308delinsGT (p.Gly33436=)
c.97349_97350delinsGT (p.Gly32450=)
c.78965_78966delinsGT (p.Gly26322=)
c.100460_100461delinsGT (p.Gly33487=)
c.100457_100458delinsGT (p.Gly33486=)
c.99890_99891delinsGT (p.Gly33297=)
c.97232_97233delinsGT (p.Gly32411=)
c.97151_97152delinsGT (p.Gly32384=)
c.78914_78915delinsGT (p.Gly26305=)
c.68768_68769delinsGT (p.Gly22923=)
2g.178530596C>ACA349407206TTN,TTN-AS1c.98315G>T (p.Gly32772Val)
c.79400G>T (p.Gly26467Val)
c.79199G>T (p.Gly26400Val)
c.78824G>T (p.Gly26275Val)
c.106019G>T (p.Gly35340Val)
c.101096G>T (p.Gly33699Val)
n.446+6960C>A
n.220-5136C>A
c.105116G>T (p.Gly35039Val)
c.79010G>T (p.Gly26337Val)
c.78869G>T (p.Gly26290Val)
c.104912G>T (p.Gly34971Val)
c.100310G>T (p.Gly33437Val)
c.100307G>T (p.Gly33436Val)
c.97349G>T (p.Gly32450Val)
c.78965G>T (p.Gly26322Val)
c.100460G>T (p.Gly33487Val)
c.100457G>T (p.Gly33486Val)
c.99890G>T (p.Gly33297Val)
c.97232G>T (p.Gly32411Val)
c.97151G>T (p.Gly32384Val)
c.78914G>T (p.Gly26305Val)
c.68768G>T (p.Gly22923Val)
 ClinVar
2g.178530596C=CA1310514799TTN,TTN-AS1c.98315G= (p.Gly32772=)
c.79400G= (p.Gly26467=)
c.79199G= (p.Gly26400=)
c.78824G= (p.Gly26275=)
c.106019G= (p.Gly35340=)
c.101096G= (p.Gly33699=)
n.446+6960C=
n.220-5136C=
c.105116G= (p.Gly35039=)
c.79010G= (p.Gly26337=)
c.78869G= (p.Gly26290=)
c.104912G= (p.Gly34971=)
c.100310G= (p.Gly33437=)
c.100307G= (p.Gly33436=)
c.97349G= (p.Gly32450=)
c.78965G= (p.Gly26322=)
c.100460G= (p.Gly33487=)
c.100457G= (p.Gly33486=)
c.99890G= (p.Gly33297=)
c.97232G= (p.Gly32411=)
c.97151G= (p.Gly32384=)
c.78914G= (p.Gly26305=)
c.68768G= (p.Gly22923=)
2g.178530596C>GCA349407207TTN,TTN-AS1c.98315G>C (p.Gly32772Ala)
c.79400G>C (p.Gly26467Ala)
c.79199G>C (p.Gly26400Ala)
c.78824G>C (p.Gly26275Ala)
c.106019G>C (p.Gly35340Ala)
c.101096G>C (p.Gly33699Ala)
n.446+6960C>G
n.220-5136C>G
c.105116G>C (p.Gly35039Ala)
c.79010G>C (p.Gly26337Ala)
c.78869G>C (p.Gly26290Ala)
c.104912G>C (p.Gly34971Ala)
c.100310G>C (p.Gly33437Ala)
c.100307G>C (p.Gly33436Ala)
c.97349G>C (p.Gly32450Ala)
c.78965G>C (p.Gly26322Ala)
c.100460G>C (p.Gly33487Ala)
c.100457G>C (p.Gly33486Ala)
c.99890G>C (p.Gly33297Ala)
c.97232G>C (p.Gly32411Ala)
c.97151G>C (p.Gly32384Ala)
c.78914G>C (p.Gly26305Ala)
c.68768G>C (p.Gly22923Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178530596C>TCA349407208TTN,TTN-AS1c.98315G>A (p.Gly32772Asp)
c.79400G>A (p.Gly26467Asp)
c.79199G>A (p.Gly26400Asp)
c.78824G>A (p.Gly26275Asp)
c.106019G>A (p.Gly35340Asp)
c.101096G>A (p.Gly33699Asp)
n.446+6960C>T
n.220-5136C>T
c.105116G>A (p.Gly35039Asp)
c.79010G>A (p.Gly26337Asp)
c.78869G>A (p.Gly26290Asp)
c.104912G>A (p.Gly34971Asp)
c.100310G>A (p.Gly33437Asp)
c.100307G>A (p.Gly33436Asp)
c.97349G>A (p.Gly32450Asp)
c.78965G>A (p.Gly26322Asp)
c.100460G>A (p.Gly33487Asp)
c.100457G>A (p.Gly33486Asp)
c.99890G>A (p.Gly33297Asp)
c.97232G>A (p.Gly32411Asp)
c.97151G>A (p.Gly32384Asp)
c.78914G>A (p.Gly26305Asp)
c.68768G>A (p.Gly22923Asp)
 gnomAD v4
2g.178530597delCA049115TTN,TTN-AS1c.98315del (p.Gly32772ValfsTer?)
c.79400del (p.Gly26467ValfsTer?)
c.79199del (p.Gly26400ValfsTer?)
c.78824del (p.Gly26275ValfsTer?)
c.106019del (p.Gly35340ValfsTer?)
c.101096del (p.Gly33699ValfsTer?)
n.446+6961del
n.220-5135del
c.105116del (p.Gly35039ValfsTer?)
c.79010del (p.Gly26337ValfsTer?)
c.78869del (p.Gly26290ValfsTer?)
c.104912del (p.Gly34971ValfsTer?)
c.100310del (p.Gly33437ValfsTer?)
c.100307del (p.Gly33436ValfsTer?)
c.97349del (p.Gly32450ValfsTer?)
c.78965del (p.Gly26322ValfsTer?)
c.100460del (p.Gly33487ValfsTer?)
c.100457del (p.Gly33486ValfsTer?)
c.99890del (p.Gly33297ValfsTer?)
c.97232del (p.Gly32411ValfsTer?)
c.97151del (p.Gly32384ValfsTer?)
c.78914del (p.Gly26305ValfsTer?)
c.68768del (p.Gly22923ValfsTer?)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.[178530597del;178569741_178569744del]CA049121TTN,TTN-AS1c.[68689_68692del;98315del] (p.Asn22897Ter)
c.[49774_49777del;79400del] (p.Asn16592Ter)
c.[49573_49576del;79199del] (p.Asn16525Ter)
c.[49198_49201del;78824del] (p.Asn16400Ter)
c.[76393_76396del;106019del] (p.Asn25465Ter)
c.[71470_71473del;101096del] (p.Asn23824Ter)
n.[446+6961del;447-1559_447-1556del]
n.[220-5135del;2044-12831_2044-12828del]
c.[75490_75493del;105116del] (p.Asn25164Ter)
c.[49384_49387del;79010del] (p.Asn16462Ter)
c.[49243_49246del;78869del] (p.Asn16415Ter)
c.[75286_75289del;104912del] (p.Asn25096Ter)
c.[70684_70687del;100310del] (p.Asn23562Ter)
c.[70681_70684del;100307del] (p.Asn23561Ter)
c.[67723_67726del;97349del] (p.Asn22575Ter)
c.[49339_49342del;78965del] (p.Asn16447Ter)
c.[70834_70837del;100460del] (p.Asn23612Ter)
c.[70831_70834del;100457del] (p.Asn23611Ter)
c.[70264_70267del;99890del] (p.Asn23422Ter)
c.[67606_67609del;97232del] (p.Asn22536Ter)
c.[67525_67528del;97151del] (p.Asn22509Ter)
c.[49288_49291del;78914del] (p.Asn16430Ter)
c.[39142_39145del;68768del] (p.Asn13048Ter)
2g.178530597C>ACA349407209TTN,TTN-AS1c.98314G>T (p.Gly32772Cys)
c.79399G>T (p.Gly26467Cys)
c.79198G>T (p.Gly26400Cys)
c.78823G>T (p.Gly26275Cys)
c.106018G>T (p.Gly35340Cys)
c.101095G>T (p.Gly33699Cys)
n.446+6961C>A
n.220-5135C>A
c.105115G>T (p.Gly35039Cys)
c.79009G>T (p.Gly26337Cys)
c.78868G>T (p.Gly26290Cys)
c.104911G>T (p.Gly34971Cys)
c.100309G>T (p.Gly33437Cys)
c.100306G>T (p.Gly33436Cys)
c.97348G>T (p.Gly32450Cys)
c.78964G>T (p.Gly26322Cys)
c.100459G>T (p.Gly33487Cys)
c.100456G>T (p.Gly33486Cys)
c.99889G>T (p.Gly33297Cys)
c.97231G>T (p.Gly32411Cys)
c.97150G>T (p.Gly32384Cys)
c.78913G>T (p.Gly26305Cys)
c.68767G>T (p.Gly22923Cys)
2g.178530597C=CA1310514801TTN,TTN-AS1c.98314G= (p.Gly32772=)
c.79399G= (p.Gly26467=)
c.79198G= (p.Gly26400=)
c.78823G= (p.Gly26275=)
c.106018G= (p.Gly35340=)
c.101095G= (p.Gly33699=)
n.446+6961C=
n.220-5135C=
c.105115G= (p.Gly35039=)
c.79009G= (p.Gly26337=)
c.78868G= (p.Gly26290=)
c.104911G= (p.Gly34971=)
c.100309G= (p.Gly33437=)
c.100306G= (p.Gly33436=)
c.97348G= (p.Gly32450=)
c.78964G= (p.Gly26322=)
c.100459G= (p.Gly33487=)
c.100456G= (p.Gly33486=)
c.99889G= (p.Gly33297=)
c.97231G= (p.Gly32411=)
c.97150G= (p.Gly32384=)
c.78913G= (p.Gly26305=)
c.68767G= (p.Gly22923=)
2g.178530597C>GCA349407210TTN,TTN-AS1c.98314G>C (p.Gly32772Arg)
c.79399G>C (p.Gly26467Arg)
c.79198G>C (p.Gly26400Arg)
c.78823G>C (p.Gly26275Arg)
c.106018G>C (p.Gly35340Arg)
c.101095G>C (p.Gly33699Arg)
n.446+6961C>G
n.220-5135C>G
c.105115G>C (p.Gly35039Arg)
c.79009G>C (p.Gly26337Arg)
c.78868G>C (p.Gly26290Arg)
c.104911G>C (p.Gly34971Arg)
c.100309G>C (p.Gly33437Arg)
c.100306G>C (p.Gly33436Arg)
c.97348G>C (p.Gly32450Arg)
c.78964G>C (p.Gly26322Arg)
c.100459G>C (p.Gly33487Arg)
c.100456G>C (p.Gly33486Arg)
c.99889G>C (p.Gly33297Arg)
c.97231G>C (p.Gly32411Arg)
c.97150G>C (p.Gly32384Arg)
c.78913G>C (p.Gly26305Arg)
c.68767G>C (p.Gly22923Arg)
2g.178530597C>TCA1985179TTN,TTN-AS1c.98314G>A (p.Gly32772Ser)
c.79399G>A (p.Gly26467Ser)
c.79198G>A (p.Gly26400Ser)
c.78823G>A (p.Gly26275Ser)
c.106018G>A (p.Gly35340Ser)
c.101095G>A (p.Gly33699Ser)
n.446+6961C>T
n.220-5135C>T
c.105115G>A (p.Gly35039Ser)
c.79009G>A (p.Gly26337Ser)
c.78868G>A (p.Gly26290Ser)
c.104911G>A (p.Gly34971Ser)
c.100309G>A (p.Gly33437Ser)
c.100306G>A (p.Gly33436Ser)
c.97348G>A (p.Gly32450Ser)
c.78964G>A (p.Gly26322Ser)
c.100459G>A (p.Gly33487Ser)
c.100456G>A (p.Gly33486Ser)
c.99889G>A (p.Gly33297Ser)
c.97231G>A (p.Gly32411Ser)
c.97150G>A (p.Gly32384Ser)
c.78913G>A (p.Gly26305Ser)
c.68767G>A (p.Gly22923Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530598A>CCA349407212TTN,TTN-AS1c.98313T>G (p.Asp32771Glu)
c.79398T>G (p.Asp26466Glu)
c.79197T>G (p.Asp26399Glu)
c.78822T>G (p.Asp26274Glu)
c.106017T>G (p.Asp35339Glu)
c.101094T>G (p.Asp33698Glu)
n.446+6962A>C
n.220-5134A>C
c.105114T>G (p.Asp35038Glu)
c.79008T>G (p.Asp26336Glu)
c.78867T>G (p.Asp26289Glu)
c.104910T>G (p.Asp34970Glu)
c.100308T>G (p.Asp33436Glu)
c.100305T>G (p.Asp33435Glu)
c.97347T>G (p.Asp32449Glu)
c.78963T>G (p.Asp26321Glu)
c.100458T>G (p.Asp33486Glu)
c.100455T>G (p.Asp33485Glu)
c.99888T>G (p.Asp33296Glu)
c.97230T>G (p.Asp32410Glu)
c.97149T>G (p.Asp32383Glu)
c.78912T>G (p.Asp26304Glu)
c.68766T>G (p.Asp22922Glu)
2g.178530598A>GCA430235503TTN,TTN-AS1c.98313T>C (p.Asp32771=)
c.79398T>C (p.Asp26466=)
c.79197T>C (p.Asp26399=)
c.78822T>C (p.Asp26274=)
c.106017T>C (p.Asp35339=)
c.101094T>C (p.Asp33698=)
n.446+6962A>G
n.220-5134A>G
c.105114T>C (p.Asp35038=)
c.79008T>C (p.Asp26336=)
c.78867T>C (p.Asp26289=)
c.104910T>C (p.Asp34970=)
c.100308T>C (p.Asp33436=)
c.100305T>C (p.Asp33435=)
c.97347T>C (p.Asp32449=)
c.78963T>C (p.Asp26321=)
c.100458T>C (p.Asp33486=)
c.100455T>C (p.Asp33485=)
c.99888T>C (p.Asp33296=)
c.97230T>C (p.Asp32410=)
c.97149T>C (p.Asp32383=)
c.78912T>C (p.Asp26304=)
c.68766T>C (p.Asp22922=)
2g.178530598A>TCA349407211TTN,TTN-AS1c.98313T>A (p.Asp32771Glu)
c.79398T>A (p.Asp26466Glu)
c.79197T>A (p.Asp26399Glu)
c.78822T>A (p.Asp26274Glu)
c.106017T>A (p.Asp35339Glu)
c.101094T>A (p.Asp33698Glu)
n.446+6962A>T
n.220-5134A>T
c.105114T>A (p.Asp35038Glu)
c.79008T>A (p.Asp26336Glu)
c.78867T>A (p.Asp26289Glu)
c.104910T>A (p.Asp34970Glu)
c.100308T>A (p.Asp33436Glu)
c.100305T>A (p.Asp33435Glu)
c.97347T>A (p.Asp32449Glu)
c.78963T>A (p.Asp26321Glu)
c.100458T>A (p.Asp33486Glu)
c.100455T>A (p.Asp33485Glu)
c.99888T>A (p.Asp33296Glu)
c.97230T>A (p.Asp32410Glu)
c.97149T>A (p.Asp32383Glu)
c.78912T>A (p.Asp26304Glu)
c.68766T>A (p.Asp22922Glu)
2g.178530599T>ACA349407214TTN,TTN-AS1c.98312A>T (p.Asp32771Val)
c.79397A>T (p.Asp26466Val)
c.79196A>T (p.Asp26399Val)
c.78821A>T (p.Asp26274Val)
c.106016A>T (p.Asp35339Val)
c.101093A>T (p.Asp33698Val)
n.446+6963T>A
n.220-5133T>A
c.105113A>T (p.Asp35038Val)
c.79007A>T (p.Asp26336Val)
c.78866A>T (p.Asp26289Val)
c.104909A>T (p.Asp34970Val)
c.100307A>T (p.Asp33436Val)
c.100304A>T (p.Asp33435Val)
c.97346A>T (p.Asp32449Val)
c.78962A>T (p.Asp26321Val)
c.100457A>T (p.Asp33486Val)
c.100454A>T (p.Asp33485Val)
c.99887A>T (p.Asp33296Val)
c.97229A>T (p.Asp32410Val)
c.97148A>T (p.Asp32383Val)
c.78911A>T (p.Asp26304Val)
c.68765A>T (p.Asp22922Val)
2g.178530599T>CCA349407213TTN,TTN-AS1c.98312A>G (p.Asp32771Gly)
c.79397A>G (p.Asp26466Gly)
c.79196A>G (p.Asp26399Gly)
c.78821A>G (p.Asp26274Gly)
c.106016A>G (p.Asp35339Gly)
c.101093A>G (p.Asp33698Gly)
n.446+6963T>C
n.220-5133T>C
c.105113A>G (p.Asp35038Gly)
c.79007A>G (p.Asp26336Gly)
c.78866A>G (p.Asp26289Gly)
c.104909A>G (p.Asp34970Gly)
c.100307A>G (p.Asp33436Gly)
c.100304A>G (p.Asp33435Gly)
c.97346A>G (p.Asp32449Gly)
c.78962A>G (p.Asp26321Gly)
c.100457A>G (p.Asp33486Gly)
c.100454A>G (p.Asp33485Gly)
c.99887A>G (p.Asp33296Gly)
c.97229A>G (p.Asp32410Gly)
c.97148A>G (p.Asp32383Gly)
c.78911A>G (p.Asp26304Gly)
c.68765A>G (p.Asp22922Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.178530599T>GCA349407215TTN,TTN-AS1c.98312A>C (p.Asp32771Ala)
c.79397A>C (p.Asp26466Ala)
c.79196A>C (p.Asp26399Ala)
c.78821A>C (p.Asp26274Ala)
c.106016A>C (p.Asp35339Ala)
c.101093A>C (p.Asp33698Ala)
n.446+6963T>G
n.220-5133T>G
c.105113A>C (p.Asp35038Ala)
c.79007A>C (p.Asp26336Ala)
c.78866A>C (p.Asp26289Ala)
c.104909A>C (p.Asp34970Ala)
c.100307A>C (p.Asp33436Ala)
c.100304A>C (p.Asp33435Ala)
c.97346A>C (p.Asp32449Ala)
c.78962A>C (p.Asp26321Ala)
c.100457A>C (p.Asp33486Ala)
c.100454A>C (p.Asp33485Ala)
c.99887A>C (p.Asp33296Ala)
c.97229A>C (p.Asp32410Ala)
c.97148A>C (p.Asp32383Ala)
c.78911A>C (p.Asp26304Ala)
c.68765A>C (p.Asp22922Ala)
2g.178530599T=CA1310514805TTN,TTN-AS1c.98312A= (p.Asp32771=)
c.79397A= (p.Asp26466=)
c.79196A= (p.Asp26399=)
c.78821A= (p.Asp26274=)
c.106016A= (p.Asp35339=)
c.101093A= (p.Asp33698=)
n.446+6963T=
n.220-5133T=
c.105113A= (p.Asp35038=)
c.79007A= (p.Asp26336=)
c.78866A= (p.Asp26289=)
c.104909A= (p.Asp34970=)
c.100307A= (p.Asp33436=)
c.100304A= (p.Asp33435=)
c.97346A= (p.Asp32449=)
c.78962A= (p.Asp26321=)
c.100457A= (p.Asp33486=)
c.100454A= (p.Asp33485=)
c.99887A= (p.Asp33296=)
c.97229A= (p.Asp32410=)
c.97148A= (p.Asp32383=)
c.78911A= (p.Asp26304=)
c.68765A= (p.Asp22922=)
2g.178530599_178530600delinsTCCA1310514804TTN,TTN-AS1c.98311_98312delinsGA (p.Asp32771=)
c.79396_79397delinsGA (p.Asp26466=)
c.79195_79196delinsGA (p.Asp26399=)
c.78820_78821delinsGA (p.Asp26274=)
c.106015_106016delinsGA (p.Asp35339=)
c.101092_101093delinsGA (p.Asp33698=)
n.446+6963_446+6964delinsTC
n.220-5133_220-5132delinsTC
c.105112_105113delinsGA (p.Asp35038=)
c.79006_79007delinsGA (p.Asp26336=)
c.78865_78866delinsGA (p.Asp26289=)
c.104908_104909delinsGA (p.Asp34970=)
c.100306_100307delinsGA (p.Asp33436=)
c.100303_100304delinsGA (p.Asp33435=)
c.97345_97346delinsGA (p.Asp32449=)
c.78961_78962delinsGA (p.Asp26321=)
c.100456_100457delinsGA (p.Asp33486=)
c.100453_100454delinsGA (p.Asp33485=)
c.99886_99887delinsGA (p.Asp33296=)
c.97228_97229delinsGA (p.Asp32410=)
c.97147_97148delinsGA (p.Asp32383=)
c.78910_78911delinsGA (p.Asp26304=)
c.68764_68765delinsGA (p.Asp22922=)
2g.178530600delCA913189591TTN,TTN-AS1c.98311del (p.Asp32771MetfsTer?)
c.79396del (p.Asp26466MetfsTer?)
c.79195del (p.Asp26399MetfsTer?)
c.78820del (p.Asp26274MetfsTer?)
c.106015del (p.Asp35339MetfsTer?)
c.101092del (p.Asp33698MetfsTer?)
n.446+6964del
n.220-5132del
c.105112del (p.Asp35038MetfsTer?)
c.79006del (p.Asp26336MetfsTer?)
c.78865del (p.Asp26289MetfsTer?)
c.104908del (p.Asp34970MetfsTer?)
c.100306del (p.Asp33436MetfsTer?)
c.100303del (p.Asp33435MetfsTer?)
c.97345del (p.Asp32449MetfsTer?)
c.78961del (p.Asp26321MetfsTer?)
c.100456del (p.Asp33486MetfsTer?)
c.100453del (p.Asp33485MetfsTer?)
c.99886del (p.Asp33296MetfsTer?)
c.97228del (p.Asp32410MetfsTer?)
c.97147del (p.Asp32383MetfsTer?)
c.78910del (p.Asp26304MetfsTer?)
c.68764del (p.Asp22922MetfsTer?)
 ClinVar dbSNP
2g.178530600C>ACA349407216TTN,TTN-AS1c.98311G>T (p.Asp32771Tyr)
c.79396G>T (p.Asp26466Tyr)
c.79195G>T (p.Asp26399Tyr)
c.78820G>T (p.Asp26274Tyr)
c.106015G>T (p.Asp35339Tyr)
c.101092G>T (p.Asp33698Tyr)
n.446+6964C>A
n.220-5132C>A
c.105112G>T (p.Asp35038Tyr)
c.79006G>T (p.Asp26336Tyr)
c.78865G>T (p.Asp26289Tyr)
c.104908G>T (p.Asp34970Tyr)
c.100306G>T (p.Asp33436Tyr)
c.100303G>T (p.Asp33435Tyr)
c.97345G>T (p.Asp32449Tyr)
c.78961G>T (p.Asp26321Tyr)
c.100456G>T (p.Asp33486Tyr)
c.100453G>T (p.Asp33485Tyr)
c.99886G>T (p.Asp33296Tyr)
c.97228G>T (p.Asp32410Tyr)
c.97147G>T (p.Asp32383Tyr)
c.78910G>T (p.Asp26304Tyr)
c.68764G>T (p.Asp22922Tyr)
2g.178530600C>GCA349407217TTN,TTN-AS1c.98311G>C (p.Asp32771His)
c.79396G>C (p.Asp26466His)
c.79195G>C (p.Asp26399His)
c.78820G>C (p.Asp26274His)
c.106015G>C (p.Asp35339His)
c.101092G>C (p.Asp33698His)
n.446+6964C>G
n.220-5132C>G
c.105112G>C (p.Asp35038His)
c.79006G>C (p.Asp26336His)
c.78865G>C (p.Asp26289His)
c.104908G>C (p.Asp34970His)
c.100306G>C (p.Asp33436His)
c.100303G>C (p.Asp33435His)
c.97345G>C (p.Asp32449His)
c.78961G>C (p.Asp26321His)
c.100456G>C (p.Asp33486His)
c.100453G>C (p.Asp33485His)
c.99886G>C (p.Asp33296His)
c.97228G>C (p.Asp32410His)
c.97147G>C (p.Asp32383His)
c.78910G>C (p.Asp26304His)
c.68764G>C (p.Asp22922His)
2g.178530600C>TCA349407218TTN,TTN-AS1c.98311G>A (p.Asp32771Asn)
c.79396G>A (p.Asp26466Asn)
c.79195G>A (p.Asp26399Asn)
c.78820G>A (p.Asp26274Asn)
c.106015G>A (p.Asp35339Asn)
c.101092G>A (p.Asp33698Asn)
n.446+6964C>T
n.220-5132C>T
c.105112G>A (p.Asp35038Asn)
c.79006G>A (p.Asp26336Asn)
c.78865G>A (p.Asp26289Asn)
c.104908G>A (p.Asp34970Asn)
c.100306G>A (p.Asp33436Asn)
c.100303G>A (p.Asp33435Asn)
c.97345G>A (p.Asp32449Asn)
c.78961G>A (p.Asp26321Asn)
c.100456G>A (p.Asp33486Asn)
c.100453G>A (p.Asp33485Asn)
c.99886G>A (p.Asp33296Asn)
c.97228G>A (p.Asp32410Asn)
c.97147G>A (p.Asp32383Asn)
c.78910G>A (p.Asp26304Asn)
c.68764G>A (p.Asp22922Asn)
2g.178530601T>ACA430235513TTN,TTN-AS1c.98310A>T (p.Ala32770=)
c.79395A>T (p.Ala26465=)
c.79194A>T (p.Ala26398=)
c.78819A>T (p.Ala26273=)
c.106014A>T (p.Ala35338=)
c.101091A>T (p.Ala33697=)
n.446+6965T>A
n.220-5131T>A
c.105111A>T (p.Ala35037=)
c.79005A>T (p.Ala26335=)
c.78864A>T (p.Ala26288=)
c.104907A>T (p.Ala34969=)
c.100305A>T (p.Ala33435=)
c.100302A>T (p.Ala33434=)
c.97344A>T (p.Ala32448=)
c.78960A>T (p.Ala26320=)
c.100455A>T (p.Ala33485=)
c.100452A>T (p.Ala33484=)
c.99885A>T (p.Ala33295=)
c.97227A>T (p.Ala32409=)
c.97146A>T (p.Ala32382=)
c.78909A>T (p.Ala26303=)
c.68763A>T (p.Ala22921=)
2g.178530601T>CCA430235514TTN,TTN-AS1c.98310A>G (p.Ala32770=)
c.79395A>G (p.Ala26465=)
c.79194A>G (p.Ala26398=)
c.78819A>G (p.Ala26273=)
c.106014A>G (p.Ala35338=)
c.101091A>G (p.Ala33697=)
n.446+6965T>C
n.220-5131T>C
c.105111A>G (p.Ala35037=)
c.79005A>G (p.Ala26335=)
c.78864A>G (p.Ala26288=)
c.104907A>G (p.Ala34969=)
c.100305A>G (p.Ala33435=)
c.100302A>G (p.Ala33434=)
c.97344A>G (p.Ala32448=)
c.78960A>G (p.Ala26320=)
c.100455A>G (p.Ala33485=)
c.100452A>G (p.Ala33484=)
c.99885A>G (p.Ala33295=)
c.97227A>G (p.Ala32409=)
c.97146A>G (p.Ala32382=)
c.78909A>G (p.Ala26303=)
c.68763A>G (p.Ala22921=)
 gnomAD v4
2g.178530601T>GCA430235512TTN,TTN-AS1c.98310A>C (p.Ala32770=)
c.79395A>C (p.Ala26465=)
c.79194A>C (p.Ala26398=)
c.78819A>C (p.Ala26273=)
c.106014A>C (p.Ala35338=)
c.101091A>C (p.Ala33697=)
n.446+6965T>G
n.220-5131T>G
c.105111A>C (p.Ala35037=)
c.79005A>C (p.Ala26335=)
c.78864A>C (p.Ala26288=)
c.104907A>C (p.Ala34969=)
c.100305A>C (p.Ala33435=)
c.100302A>C (p.Ala33434=)
c.97344A>C (p.Ala32448=)
c.78960A>C (p.Ala26320=)
c.100455A>C (p.Ala33485=)
c.100452A>C (p.Ala33484=)
c.99885A>C (p.Ala33295=)
c.97227A>C (p.Ala32409=)
c.97146A>C (p.Ala32382=)
c.78909A>C (p.Ala26303=)
c.68763A>C (p.Ala22921=)
2g.178530602G>ACA349407219TTN,TTN-AS1c.98309C>T (p.Ala32770Val)
c.79394C>T (p.Ala26465Val)
c.79193C>T (p.Ala26398Val)
c.78818C>T (p.Ala26273Val)
c.106013C>T (p.Ala35338Val)
c.101090C>T (p.Ala33697Val)
n.446+6966G>A
n.220-5130G>A
c.105110C>T (p.Ala35037Val)
c.79004C>T (p.Ala26335Val)
c.78863C>T (p.Ala26288Val)
c.104906C>T (p.Ala34969Val)
c.100304C>T (p.Ala33435Val)
c.100301C>T (p.Ala33434Val)
c.97343C>T (p.Ala32448Val)
c.78959C>T (p.Ala26320Val)
c.100454C>T (p.Ala33485Val)
c.100451C>T (p.Ala33484Val)
c.99884C>T (p.Ala33295Val)
c.97226C>T (p.Ala32409Val)
c.97145C>T (p.Ala32382Val)
c.78908C>T (p.Ala26303Val)
c.68762C>T (p.Ala22921Val)
2g.178530602G>CCA349407220TTN,TTN-AS1c.98309C>G (p.Ala32770Gly)
c.79394C>G (p.Ala26465Gly)
c.79193C>G (p.Ala26398Gly)
c.78818C>G (p.Ala26273Gly)
c.106013C>G (p.Ala35338Gly)
c.101090C>G (p.Ala33697Gly)
n.446+6966G>C
n.220-5130G>C
c.105110C>G (p.Ala35037Gly)
c.79004C>G (p.Ala26335Gly)
c.78863C>G (p.Ala26288Gly)
c.104906C>G (p.Ala34969Gly)
c.100304C>G (p.Ala33435Gly)
c.100301C>G (p.Ala33434Gly)
c.97343C>G (p.Ala32448Gly)
c.78959C>G (p.Ala26320Gly)
c.100454C>G (p.Ala33485Gly)
c.100451C>G (p.Ala33484Gly)
c.99884C>G (p.Ala33295Gly)
c.97226C>G (p.Ala32409Gly)
c.97145C>G (p.Ala32382Gly)
c.78908C>G (p.Ala26303Gly)
c.68762C>G (p.Ala22921Gly)
2g.178530602G>TCA349407221TTN,TTN-AS1c.98309C>A (p.Ala32770Glu)
c.79394C>A (p.Ala26465Glu)
c.79193C>A (p.Ala26398Glu)
c.78818C>A (p.Ala26273Glu)
c.106013C>A (p.Ala35338Glu)
c.101090C>A (p.Ala33697Glu)
n.446+6966G>T
n.220-5130G>T
c.105110C>A (p.Ala35037Glu)
c.79004C>A (p.Ala26335Glu)
c.78863C>A (p.Ala26288Glu)
c.104906C>A (p.Ala34969Glu)
c.100304C>A (p.Ala33435Glu)
c.100301C>A (p.Ala33434Glu)
c.97343C>A (p.Ala32448Glu)
c.78959C>A (p.Ala26320Glu)
c.100454C>A (p.Ala33485Glu)
c.100451C>A (p.Ala33484Glu)
c.99884C>A (p.Ala33295Glu)
c.97226C>A (p.Ala32409Glu)
c.97145C>A (p.Ala32382Glu)
c.78908C>A (p.Ala26303Glu)
c.68762C>A (p.Ala22921Glu)
2g.178530603C>ACA349407222TTN,TTN-AS1c.98308G>T (p.Ala32770Ser)
c.79393G>T (p.Ala26465Ser)
c.79192G>T (p.Ala26398Ser)
c.78817G>T (p.Ala26273Ser)
c.106012G>T (p.Ala35338Ser)
c.101089G>T (p.Ala33697Ser)
n.446+6967C>A
n.220-5129C>A
c.105109G>T (p.Ala35037Ser)
c.79003G>T (p.Ala26335Ser)
c.78862G>T (p.Ala26288Ser)
c.104905G>T (p.Ala34969Ser)
c.100303G>T (p.Ala33435Ser)
c.100300G>T (p.Ala33434Ser)
c.97342G>T (p.Ala32448Ser)
c.78958G>T (p.Ala26320Ser)
c.100453G>T (p.Ala33485Ser)
c.100450G>T (p.Ala33484Ser)
c.99883G>T (p.Ala33295Ser)
c.97225G>T (p.Ala32409Ser)
c.97144G>T (p.Ala32382Ser)
c.78907G>T (p.Ala26303Ser)
c.68761G>T (p.Ala22921Ser)
2g.178530603C>GCA349407223TTN,TTN-AS1c.98308G>C (p.Ala32770Pro)
c.79393G>C (p.Ala26465Pro)
c.79192G>C (p.Ala26398Pro)
c.78817G>C (p.Ala26273Pro)
c.106012G>C (p.Ala35338Pro)
c.101089G>C (p.Ala33697Pro)
n.446+6967C>G
n.220-5129C>G
c.105109G>C (p.Ala35037Pro)
c.79003G>C (p.Ala26335Pro)
c.78862G>C (p.Ala26288Pro)
c.104905G>C (p.Ala34969Pro)
c.100303G>C (p.Ala33435Pro)
c.100300G>C (p.Ala33434Pro)
c.97342G>C (p.Ala32448Pro)
c.78958G>C (p.Ala26320Pro)
c.100453G>C (p.Ala33485Pro)
c.100450G>C (p.Ala33484Pro)
c.99883G>C (p.Ala33295Pro)
c.97225G>C (p.Ala32409Pro)
c.97144G>C (p.Ala32382Pro)
c.78907G>C (p.Ala26303Pro)
c.68761G>C (p.Ala22921Pro)
2g.178530603C>TCA349407224TTN,TTN-AS1c.98308G>A (p.Ala32770Thr)
c.79393G>A (p.Ala26465Thr)
c.79192G>A (p.Ala26398Thr)
c.78817G>A (p.Ala26273Thr)
c.106012G>A (p.Ala35338Thr)
c.101089G>A (p.Ala33697Thr)
n.446+6967C>T
n.220-5129C>T
c.105109G>A (p.Ala35037Thr)
c.79003G>A (p.Ala26335Thr)
c.78862G>A (p.Ala26288Thr)
c.104905G>A (p.Ala34969Thr)
c.100303G>A (p.Ala33435Thr)
c.100300G>A (p.Ala33434Thr)
c.97342G>A (p.Ala32448Thr)
c.78958G>A (p.Ala26320Thr)
c.100453G>A (p.Ala33485Thr)
c.100450G>A (p.Ala33484Thr)
c.99883G>A (p.Ala33295Thr)
c.97225G>A (p.Ala32409Thr)
c.97144G>A (p.Ala32382Thr)
c.78907G>A (p.Ala26303Thr)
c.68761G>A (p.Ala22921Thr)
2g.178530604T>ACA430235524TTN,TTN-AS1c.98307A>T (p.Ser32769=)
c.79392A>T (p.Ser26464=)
c.79191A>T (p.Ser26397=)
c.78816A>T (p.Ser26272=)
c.106011A>T (p.Ser35337=)
c.101088A>T (p.Ser33696=)
n.446+6968T>A
n.220-5128T>A
c.105108A>T (p.Ser35036=)
c.79002A>T (p.Ser26334=)
c.78861A>T (p.Ser26287=)
c.104904A>T (p.Ser34968=)
c.100302A>T (p.Ser33434=)
c.100299A>T (p.Ser33433=)
c.97341A>T (p.Ser32447=)
c.78957A>T (p.Ser26319=)
c.100452A>T (p.Ser33484=)
c.100449A>T (p.Ser33483=)
c.99882A>T (p.Ser33294=)
c.97224A>T (p.Ser32408=)
c.97143A>T (p.Ser32381=)
c.78906A>T (p.Ser26302=)
c.68760A>T (p.Ser22920=)
 dbSNP
2g.178530604T>CCA430235525TTN,TTN-AS1c.98307A>G (p.Ser32769=)
c.79392A>G (p.Ser26464=)
c.79191A>G (p.Ser26397=)
c.78816A>G (p.Ser26272=)
c.106011A>G (p.Ser35337=)
c.101088A>G (p.Ser33696=)
n.446+6968T>C
n.220-5128T>C
c.105108A>G (p.Ser35036=)
c.79002A>G (p.Ser26334=)
c.78861A>G (p.Ser26287=)
c.104904A>G (p.Ser34968=)
c.100302A>G (p.Ser33434=)
c.100299A>G (p.Ser33433=)
c.97341A>G (p.Ser32447=)
c.78957A>G (p.Ser26319=)
c.100452A>G (p.Ser33484=)
c.100449A>G (p.Ser33483=)
c.99882A>G (p.Ser33294=)
c.97224A>G (p.Ser32408=)
c.97143A>G (p.Ser32381=)
c.78906A>G (p.Ser26302=)
c.68760A>G (p.Ser22920=)
2g.178530604T>GCA430235527TTN,TTN-AS1c.98307A>C (p.Ser32769=)
c.79392A>C (p.Ser26464=)
c.79191A>C (p.Ser26397=)
c.78816A>C (p.Ser26272=)
c.106011A>C (p.Ser35337=)
c.101088A>C (p.Ser33696=)
n.446+6968T>G
n.220-5128T>G
c.105108A>C (p.Ser35036=)
c.79002A>C (p.Ser26334=)
c.78861A>C (p.Ser26287=)
c.104904A>C (p.Ser34968=)
c.100302A>C (p.Ser33434=)
c.100299A>C (p.Ser33433=)
c.97341A>C (p.Ser32447=)
c.78957A>C (p.Ser26319=)
c.100452A>C (p.Ser33484=)
c.100449A>C (p.Ser33483=)
c.99882A>C (p.Ser33294=)
c.97224A>C (p.Ser32408=)
c.97143A>C (p.Ser32381=)
c.78906A>C (p.Ser26302=)
c.68760A>C (p.Ser22920=)
2g.178530605G>ACA349407225TTN,TTN-AS1c.98306C>T (p.Ser32769Leu)
c.79391C>T (p.Ser26464Leu)
c.79190C>T (p.Ser26397Leu)
c.78815C>T (p.Ser26272Leu)
c.106010C>T (p.Ser35337Leu)
c.101087C>T (p.Ser33696Leu)
n.446+6969G>A
n.220-5127G>A
c.105107C>T (p.Ser35036Leu)
c.79001C>T (p.Ser26334Leu)
c.78860C>T (p.Ser26287Leu)
c.104903C>T (p.Ser34968Leu)
c.100301C>T (p.Ser33434Leu)
c.100298C>T (p.Ser33433Leu)
c.97340C>T (p.Ser32447Leu)
c.78956C>T (p.Ser26319Leu)
c.100451C>T (p.Ser33484Leu)
c.100448C>T (p.Ser33483Leu)
c.99881C>T (p.Ser33294Leu)
c.97223C>T (p.Ser32408Leu)
c.97142C>T (p.Ser32381Leu)
c.78905C>T (p.Ser26302Leu)
c.68759C>T (p.Ser22920Leu)
2g.178530605G>CCA349407226TTN,TTN-AS1c.98306C>G (p.Ser32769Ter)
c.79391C>G (p.Ser26464Ter)
c.79190C>G (p.Ser26397Ter)
c.78815C>G (p.Ser26272Ter)
c.106010C>G (p.Ser35337Ter)
c.101087C>G (p.Ser33696Ter)
n.446+6969G>C
n.220-5127G>C
c.105107C>G (p.Ser35036Ter)
c.79001C>G (p.Ser26334Ter)
c.78860C>G (p.Ser26287Ter)
c.104903C>G (p.Ser34968Ter)
c.100301C>G (p.Ser33434Ter)
c.100298C>G (p.Ser33433Ter)
c.97340C>G (p.Ser32447Ter)
c.78956C>G (p.Ser26319Ter)
c.100451C>G (p.Ser33484Ter)
c.100448C>G (p.Ser33483Ter)
c.99881C>G (p.Ser33294Ter)
c.97223C>G (p.Ser32408Ter)
c.97142C>G (p.Ser32381Ter)
c.78905C>G (p.Ser26302Ter)
c.68759C>G (p.Ser22920Ter)
 COSMIC COSMIC COSMIC COSMIC
2g.178530605G>TCA349407227TTN,TTN-AS1c.98306C>A (p.Ser32769Ter)
c.79391C>A (p.Ser26464Ter)
c.79190C>A (p.Ser26397Ter)
c.78815C>A (p.Ser26272Ter)
c.106010C>A (p.Ser35337Ter)
c.101087C>A (p.Ser33696Ter)
n.446+6969G>T
n.220-5127G>T
c.105107C>A (p.Ser35036Ter)
c.79001C>A (p.Ser26334Ter)
c.78860C>A (p.Ser26287Ter)
c.104903C>A (p.Ser34968Ter)
c.100301C>A (p.Ser33434Ter)
c.100298C>A (p.Ser33433Ter)
c.97340C>A (p.Ser32447Ter)
c.78956C>A (p.Ser26319Ter)
c.100451C>A (p.Ser33484Ter)
c.100448C>A (p.Ser33483Ter)
c.99881C>A (p.Ser33294Ter)
c.97223C>A (p.Ser32408Ter)
c.97142C>A (p.Ser32381Ter)
c.78905C>A (p.Ser26302Ter)
c.68759C>A (p.Ser22920Ter)
2g.178530606A>CCA349407228TTN,TTN-AS1c.98305T>G (p.Ser32769Ala)
c.79390T>G (p.Ser26464Ala)
c.79189T>G (p.Ser26397Ala)
c.78814T>G (p.Ser26272Ala)
c.106009T>G (p.Ser35337Ala)
c.101086T>G (p.Ser33696Ala)
n.446+6970A>C
n.220-5126A>C
c.105106T>G (p.Ser35036Ala)
c.79000T>G (p.Ser26334Ala)
c.78859T>G (p.Ser26287Ala)
c.104902T>G (p.Ser34968Ala)
c.100300T>G (p.Ser33434Ala)
c.100297T>G (p.Ser33433Ala)
c.97339T>G (p.Ser32447Ala)
c.78955T>G (p.Ser26319Ala)
c.100450T>G (p.Ser33484Ala)
c.100447T>G (p.Ser33483Ala)
c.99880T>G (p.Ser33294Ala)
c.97222T>G (p.Ser32408Ala)
c.97141T>G (p.Ser32381Ala)
c.78904T>G (p.Ser26302Ala)
c.68758T>G (p.Ser22920Ala)
2g.178530606A>GCA349407230TTN,TTN-AS1c.98305T>C (p.Ser32769Pro)
c.79390T>C (p.Ser26464Pro)
c.79189T>C (p.Ser26397Pro)
c.78814T>C (p.Ser26272Pro)
c.106009T>C (p.Ser35337Pro)
c.101086T>C (p.Ser33696Pro)
n.446+6970A>G
n.220-5126A>G
c.105106T>C (p.Ser35036Pro)
c.79000T>C (p.Ser26334Pro)
c.78859T>C (p.Ser26287Pro)
c.104902T>C (p.Ser34968Pro)
c.100300T>C (p.Ser33434Pro)
c.100297T>C (p.Ser33433Pro)
c.97339T>C (p.Ser32447Pro)
c.78955T>C (p.Ser26319Pro)
c.100450T>C (p.Ser33484Pro)
c.100447T>C (p.Ser33483Pro)
c.99880T>C (p.Ser33294Pro)
c.97222T>C (p.Ser32408Pro)
c.97141T>C (p.Ser32381Pro)
c.78904T>C (p.Ser26302Pro)
c.68758T>C (p.Ser22920Pro)
2g.178530606A>TCA349407229TTN,TTN-AS1c.98305T>A (p.Ser32769Thr)
c.79390T>A (p.Ser26464Thr)
c.79189T>A (p.Ser26397Thr)
c.78814T>A (p.Ser26272Thr)
c.106009T>A (p.Ser35337Thr)
c.101086T>A (p.Ser33696Thr)
n.446+6970A>T
n.220-5126A>T
c.105106T>A (p.Ser35036Thr)
c.79000T>A (p.Ser26334Thr)
c.78859T>A (p.Ser26287Thr)
c.104902T>A (p.Ser34968Thr)
c.100300T>A (p.Ser33434Thr)
c.100297T>A (p.Ser33433Thr)
c.97339T>A (p.Ser32447Thr)
c.78955T>A (p.Ser26319Thr)
c.100450T>A (p.Ser33484Thr)
c.100447T>A (p.Ser33483Thr)
c.99880T>A (p.Ser33294Thr)
c.97222T>A (p.Ser32408Thr)
c.97141T>A (p.Ser32381Thr)
c.78904T>A (p.Ser26302Thr)
c.68758T>A (p.Ser22920Thr)
2g.178530607A>CCA349407231TTN,TTN-AS1c.98304T>G (p.Tyr32768Ter)
c.79389T>G (p.Tyr26463Ter)
c.79188T>G (p.Tyr26396Ter)
c.78813T>G (p.Tyr26271Ter)
c.106008T>G (p.Tyr35336Ter)
c.101085T>G (p.Tyr33695Ter)
n.446+6971A>C
n.220-5125A>C
c.105105T>G (p.Tyr35035Ter)
c.78999T>G (p.Tyr26333Ter)
c.78858T>G (p.Tyr26286Ter)
c.104901T>G (p.Tyr34967Ter)
c.100299T>G (p.Tyr33433Ter)
c.100296T>G (p.Tyr33432Ter)
c.97338T>G (p.Tyr32446Ter)
c.78954T>G (p.Tyr26318Ter)
c.100449T>G (p.Tyr33483Ter)
c.100446T>G (p.Tyr33482Ter)
c.99879T>G (p.Tyr33293Ter)
c.97221T>G (p.Tyr32407Ter)
c.97140T>G (p.Tyr32380Ter)
c.78903T>G (p.Tyr26301Ter)
c.68757T>G (p.Tyr22919Ter)
2g.178530607A>GCA430235529TTN,TTN-AS1c.98304T>C (p.Tyr32768=)
c.79389T>C (p.Tyr26463=)
c.79188T>C (p.Tyr26396=)
c.78813T>C (p.Tyr26271=)
c.106008T>C (p.Tyr35336=)
c.101085T>C (p.Tyr33695=)
n.446+6971A>G
n.220-5125A>G
c.105105T>C (p.Tyr35035=)
c.78999T>C (p.Tyr26333=)
c.78858T>C (p.Tyr26286=)
c.104901T>C (p.Tyr34967=)
c.100299T>C (p.Tyr33433=)
c.100296T>C (p.Tyr33432=)
c.97338T>C (p.Tyr32446=)
c.78954T>C (p.Tyr26318=)
c.100449T>C (p.Tyr33483=)
c.100446T>C (p.Tyr33482=)
c.99879T>C (p.Tyr33293=)
c.97221T>C (p.Tyr32407=)
c.97140T>C (p.Tyr32380=)
c.78903T>C (p.Tyr26301=)
c.68757T>C (p.Tyr22919=)
2g.178530607A>TCA349407232TTN,TTN-AS1c.98304T>A (p.Tyr32768Ter)
c.79389T>A (p.Tyr26463Ter)
c.79188T>A (p.Tyr26396Ter)
c.78813T>A (p.Tyr26271Ter)
c.106008T>A (p.Tyr35336Ter)
c.101085T>A (p.Tyr33695Ter)
n.446+6971A>T
n.220-5125A>T
c.105105T>A (p.Tyr35035Ter)
c.78999T>A (p.Tyr26333Ter)
c.78858T>A (p.Tyr26286Ter)
c.104901T>A (p.Tyr34967Ter)
c.100299T>A (p.Tyr33433Ter)
c.100296T>A (p.Tyr33432Ter)
c.97338T>A (p.Tyr32446Ter)
c.78954T>A (p.Tyr26318Ter)
c.100449T>A (p.Tyr33483Ter)
c.100446T>A (p.Tyr33482Ter)
c.99879T>A (p.Tyr33293Ter)
c.97221T>A (p.Tyr32407Ter)
c.97140T>A (p.Tyr32380Ter)
c.78903T>A (p.Tyr26301Ter)
c.68757T>A (p.Tyr22919Ter)
2g.178530608T>ACA349407233TTN,TTN-AS1c.98303A>T (p.Tyr32768Phe)
c.79388A>T (p.Tyr26463Phe)
c.79187A>T (p.Tyr26396Phe)
c.78812A>T (p.Tyr26271Phe)
c.106007A>T (p.Tyr35336Phe)
c.101084A>T (p.Tyr33695Phe)
n.446+6972T>A
n.220-5124T>A
c.105104A>T (p.Tyr35035Phe)
c.78998A>T (p.Tyr26333Phe)
c.78857A>T (p.Tyr26286Phe)
c.104900A>T (p.Tyr34967Phe)
c.100298A>T (p.Tyr33433Phe)
c.100295A>T (p.Tyr33432Phe)
c.97337A>T (p.Tyr32446Phe)
c.78953A>T (p.Tyr26318Phe)
c.100448A>T (p.Tyr33483Phe)
c.100445A>T (p.Tyr33482Phe)
c.99878A>T (p.Tyr33293Phe)
c.97220A>T (p.Tyr32407Phe)
c.97139A>T (p.Tyr32380Phe)
c.78902A>T (p.Tyr26301Phe)
c.68756A>T (p.Tyr22919Phe)
2g.178530608T>CCA349407234TTN,TTN-AS1c.98303A>G (p.Tyr32768Cys)
c.79388A>G (p.Tyr26463Cys)
c.79187A>G (p.Tyr26396Cys)
c.78812A>G (p.Tyr26271Cys)
c.106007A>G (p.Tyr35336Cys)
c.101084A>G (p.Tyr33695Cys)
n.446+6972T>C
n.220-5124T>C
c.105104A>G (p.Tyr35035Cys)
c.78998A>G (p.Tyr26333Cys)
c.78857A>G (p.Tyr26286Cys)
c.104900A>G (p.Tyr34967Cys)
c.100298A>G (p.Tyr33433Cys)
c.100295A>G (p.Tyr33432Cys)
c.97337A>G (p.Tyr32446Cys)
c.78953A>G (p.Tyr26318Cys)
c.100448A>G (p.Tyr33483Cys)
c.100445A>G (p.Tyr33482Cys)
c.99878A>G (p.Tyr33293Cys)
c.97220A>G (p.Tyr32407Cys)
c.97139A>G (p.Tyr32380Cys)
c.78902A>G (p.Tyr26301Cys)
c.68756A>G (p.Tyr22919Cys)
2g.178530608T>GCA349407235TTN,TTN-AS1c.98303A>C (p.Tyr32768Ser)
c.79388A>C (p.Tyr26463Ser)
c.79187A>C (p.Tyr26396Ser)
c.78812A>C (p.Tyr26271Ser)
c.106007A>C (p.Tyr35336Ser)
c.101084A>C (p.Tyr33695Ser)
n.446+6972T>G
n.220-5124T>G
c.105104A>C (p.Tyr35035Ser)
c.78998A>C (p.Tyr26333Ser)
c.78857A>C (p.Tyr26286Ser)
c.104900A>C (p.Tyr34967Ser)
c.100298A>C (p.Tyr33433Ser)
c.100295A>C (p.Tyr33432Ser)
c.97337A>C (p.Tyr32446Ser)
c.78953A>C (p.Tyr26318Ser)
c.100448A>C (p.Tyr33483Ser)
c.100445A>C (p.Tyr33482Ser)
c.99878A>C (p.Tyr33293Ser)
c.97220A>C (p.Tyr32407Ser)
c.97139A>C (p.Tyr32380Ser)
c.78902A>C (p.Tyr26301Ser)
c.68756A>C (p.Tyr22919Ser)
2g.178530609A=CA1310514808TTN,TTN-AS1c.98302T= (p.Tyr32768=)
c.79387T= (p.Tyr26463=)
c.79186T= (p.Tyr26396=)
c.78811T= (p.Tyr26271=)
c.106006T= (p.Tyr35336=)
c.101083T= (p.Tyr33695=)
n.446+6973A=
n.220-5123A=
c.105103T= (p.Tyr35035=)
c.78997T= (p.Tyr26333=)
c.78856T= (p.Tyr26286=)
c.104899T= (p.Tyr34967=)
c.100297T= (p.Tyr33433=)
c.100294T= (p.Tyr33432=)
c.97336T= (p.Tyr32446=)
c.78952T= (p.Tyr26318=)
c.100447T= (p.Tyr33483=)
c.100444T= (p.Tyr33482=)
c.99877T= (p.Tyr33293=)
c.97219T= (p.Tyr32407=)
c.97138T= (p.Tyr32380=)
c.78901T= (p.Tyr26301=)
c.68755T= (p.Tyr22919=)
2g.178530609A>CCA60953516TTN,TTN-AS1c.98302T>G (p.Tyr32768Asp)
c.79387T>G (p.Tyr26463Asp)
c.79186T>G (p.Tyr26396Asp)
c.78811T>G (p.Tyr26271Asp)
c.106006T>G (p.Tyr35336Asp)
c.101083T>G (p.Tyr33695Asp)
n.446+6973A>C
n.220-5123A>C
c.105103T>G (p.Tyr35035Asp)
c.78997T>G (p.Tyr26333Asp)
c.78856T>G (p.Tyr26286Asp)
c.104899T>G (p.Tyr34967Asp)
c.100297T>G (p.Tyr33433Asp)
c.100294T>G (p.Tyr33432Asp)
c.97336T>G (p.Tyr32446Asp)
c.78952T>G (p.Tyr26318Asp)
c.100447T>G (p.Tyr33483Asp)
c.100444T>G (p.Tyr33482Asp)
c.99877T>G (p.Tyr33293Asp)
c.97219T>G (p.Tyr32407Asp)
c.97138T>G (p.Tyr32380Asp)
c.78901T>G (p.Tyr26301Asp)
c.68755T>G (p.Tyr22919Asp)
 ClinVar dbSNP gnomAD v4
2g.178530609A>GCA349407236TTN,TTN-AS1c.98302T>C (p.Tyr32768His)
c.79387T>C (p.Tyr26463His)
c.79186T>C (p.Tyr26396His)
c.78811T>C (p.Tyr26271His)
c.106006T>C (p.Tyr35336His)
c.101083T>C (p.Tyr33695His)
n.446+6973A>G
n.220-5123A>G
c.105103T>C (p.Tyr35035His)
c.78997T>C (p.Tyr26333His)
c.78856T>C (p.Tyr26286His)
c.104899T>C (p.Tyr34967His)
c.100297T>C (p.Tyr33433His)
c.100294T>C (p.Tyr33432His)
c.97336T>C (p.Tyr32446His)
c.78952T>C (p.Tyr26318His)
c.100447T>C (p.Tyr33483His)
c.100444T>C (p.Tyr33482His)
c.99877T>C (p.Tyr33293His)
c.97219T>C (p.Tyr32407His)
c.97138T>C (p.Tyr32380His)
c.78901T>C (p.Tyr26301His)
c.68755T>C (p.Tyr22919His)
 gnomAD v4
2g.178530609A>TCA349407237TTN,TTN-AS1c.98302T>A (p.Tyr32768Asn)
c.79387T>A (p.Tyr26463Asn)
c.79186T>A (p.Tyr26396Asn)
c.78811T>A (p.Tyr26271Asn)
c.106006T>A (p.Tyr35336Asn)
c.101083T>A (p.Tyr33695Asn)
n.446+6973A>T
n.220-5123A>T
c.105103T>A (p.Tyr35035Asn)
c.78997T>A (p.Tyr26333Asn)
c.78856T>A (p.Tyr26286Asn)
c.104899T>A (p.Tyr34967Asn)
c.100297T>A (p.Tyr33433Asn)
c.100294T>A (p.Tyr33432Asn)
c.97336T>A (p.Tyr32446Asn)
c.78952T>A (p.Tyr26318Asn)
c.100447T>A (p.Tyr33483Asn)
c.100444T>A (p.Tyr33482Asn)
c.99877T>A (p.Tyr33293Asn)
c.97219T>A (p.Tyr32407Asn)
c.97138T>A (p.Tyr32380Asn)
c.78901T>A (p.Tyr26301Asn)
c.68755T>A (p.Tyr22919Asn)
2g.178530610A=CA1310514810TTN,TTN-AS1c.98301T= (p.His32767=)
c.79386T= (p.His26462=)
c.79185T= (p.His26395=)
c.78810T= (p.His26270=)
c.106005T= (p.His35335=)
c.101082T= (p.His33694=)
n.446+6974A=
n.220-5122A=
c.105102T= (p.His35034=)
c.78996T= (p.His26332=)
c.78855T= (p.His26285=)
c.104898T= (p.His34966=)
c.100296T= (p.His33432=)
c.100293T= (p.His33431=)
c.97335T= (p.His32445=)
c.78951T= (p.His26317=)
c.100446T= (p.His33482=)
c.100443T= (p.His33481=)
c.99876T= (p.His33292=)
c.97218T= (p.His32406=)
c.97137T= (p.His32379=)
c.78900T= (p.His26300=)
c.68754T= (p.His22918=)
2g.178530610A>CCA349407238TTN,TTN-AS1c.98301T>G (p.His32767Gln)
c.79386T>G (p.His26462Gln)
c.79185T>G (p.His26395Gln)
c.78810T>G (p.His26270Gln)
c.106005T>G (p.His35335Gln)
c.101082T>G (p.His33694Gln)
n.446+6974A>C
n.220-5122A>C
c.105102T>G (p.His35034Gln)
c.78996T>G (p.His26332Gln)
c.78855T>G (p.His26285Gln)
c.104898T>G (p.His34966Gln)
c.100296T>G (p.His33432Gln)
c.100293T>G (p.His33431Gln)
c.97335T>G (p.His32445Gln)
c.78951T>G (p.His26317Gln)
c.100446T>G (p.His33482Gln)
c.100443T>G (p.His33481Gln)
c.99876T>G (p.His33292Gln)
c.97218T>G (p.His32406Gln)
c.97137T>G (p.His32379Gln)
c.78900T>G (p.His26300Gln)
c.68754T>G (p.His22918Gln)
2g.178530610A>GCA430235539TTN,TTN-AS1c.98301T>C (p.His32767=)
c.79386T>C (p.His26462=)
c.79185T>C (p.His26395=)
c.78810T>C (p.His26270=)
c.106005T>C (p.His35335=)
c.101082T>C (p.His33694=)
n.446+6974A>G
n.220-5122A>G
c.105102T>C (p.His35034=)
c.78996T>C (p.His26332=)
c.78855T>C (p.His26285=)
c.104898T>C (p.His34966=)
c.100296T>C (p.His33432=)
c.100293T>C (p.His33431=)
c.97335T>C (p.His32445=)
c.78951T>C (p.His26317=)
c.100446T>C (p.His33482=)
c.100443T>C (p.His33481=)
c.99876T>C (p.His33292=)
c.97218T>C (p.His32406=)
c.97137T>C (p.His32379=)
c.78900T>C (p.His26300=)
c.68754T>C (p.His22918=)
 dbSNP
2g.178530610A>TCA349407239TTN,TTN-AS1c.98301T>A (p.His32767Gln)
c.79386T>A (p.His26462Gln)
c.79185T>A (p.His26395Gln)
c.78810T>A (p.His26270Gln)
c.106005T>A (p.His35335Gln)
c.101082T>A (p.His33694Gln)
n.446+6974A>T
n.220-5122A>T
c.105102T>A (p.His35034Gln)
c.78996T>A (p.His26332Gln)
c.78855T>A (p.His26285Gln)
c.104898T>A (p.His34966Gln)
c.100296T>A (p.His33432Gln)
c.100293T>A (p.His33431Gln)
c.97335T>A (p.His32445Gln)
c.78951T>A (p.His26317Gln)
c.100446T>A (p.His33482Gln)
c.100443T>A (p.His33481Gln)
c.99876T>A (p.His33292Gln)
c.97218T>A (p.His32406Gln)
c.97137T>A (p.His32379Gln)
c.78900T>A (p.His26300Gln)
c.68754T>A (p.His22918Gln)
2g.178530611T>ACA349407241TTN,TTN-AS1c.98300A>T (p.His32767Leu)
c.79385A>T (p.His26462Leu)
c.79184A>T (p.His26395Leu)
c.78809A>T (p.His26270Leu)
c.106004A>T (p.His35335Leu)
c.101081A>T (p.His33694Leu)
n.446+6975T>A
n.220-5121T>A
c.105101A>T (p.His35034Leu)
c.78995A>T (p.His26332Leu)
c.78854A>T (p.His26285Leu)
c.104897A>T (p.His34966Leu)
c.100295A>T (p.His33432Leu)
c.100292A>T (p.His33431Leu)
c.97334A>T (p.His32445Leu)
c.78950A>T (p.His26317Leu)
c.100445A>T (p.His33482Leu)
c.100442A>T (p.His33481Leu)
c.99875A>T (p.His33292Leu)
c.97217A>T (p.His32406Leu)
c.97136A>T (p.His32379Leu)
c.78899A>T (p.His26300Leu)
c.68753A>T (p.His22918Leu)
2g.178530611T>CCA1985180TTN,TTN-AS1c.98300A>G (p.His32767Arg)
c.79385A>G (p.His26462Arg)
c.79184A>G (p.His26395Arg)
c.78809A>G (p.His26270Arg)
c.106004A>G (p.His35335Arg)
c.101081A>G (p.His33694Arg)
n.446+6975T>C
n.220-5121T>C
c.105101A>G (p.His35034Arg)
c.78995A>G (p.His26332Arg)
c.78854A>G (p.His26285Arg)
c.104897A>G (p.His34966Arg)
c.100295A>G (p.His33432Arg)
c.100292A>G (p.His33431Arg)
c.97334A>G (p.His32445Arg)
c.78950A>G (p.His26317Arg)
c.100445A>G (p.His33482Arg)
c.100442A>G (p.His33481Arg)
c.99875A>G (p.His33292Arg)
c.97217A>G (p.His32406Arg)
c.97136A>G (p.His32379Arg)
c.78899A>G (p.His26300Arg)
c.68753A>G (p.His22918Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530611T>GCA349407240TTN,TTN-AS1c.98300A>C (p.His32767Pro)
c.79385A>C (p.His26462Pro)
c.79184A>C (p.His26395Pro)
c.78809A>C (p.His26270Pro)
c.106004A>C (p.His35335Pro)
c.101081A>C (p.His33694Pro)
n.446+6975T>G
n.220-5121T>G
c.105101A>C (p.His35034Pro)
c.78995A>C (p.His26332Pro)
c.78854A>C (p.His26285Pro)
c.104897A>C (p.His34966Pro)
c.100295A>C (p.His33432Pro)
c.100292A>C (p.His33431Pro)
c.97334A>C (p.His32445Pro)
c.78950A>C (p.His26317Pro)
c.100445A>C (p.His33482Pro)
c.100442A>C (p.His33481Pro)
c.99875A>C (p.His33292Pro)
c.97217A>C (p.His32406Pro)
c.97136A>C (p.His32379Pro)
c.78899A>C (p.His26300Pro)
c.68753A>C (p.His22918Pro)
2g.178530611T=CA1310514812TTN,TTN-AS1c.98300A= (p.His32767=)
c.79385A= (p.His26462=)
c.79184A= (p.His26395=)
c.78809A= (p.His26270=)
c.106004A= (p.His35335=)
c.101081A= (p.His33694=)
n.446+6975T=
n.220-5121T=
c.105101A= (p.His35034=)
c.78995A= (p.His26332=)
c.78854A= (p.His26285=)
c.104897A= (p.His34966=)
c.100295A= (p.His33432=)
c.100292A= (p.His33431=)
c.97334A= (p.His32445=)
c.78950A= (p.His26317=)
c.100445A= (p.His33482=)
c.100442A= (p.His33481=)
c.99875A= (p.His33292=)
c.97217A= (p.His32406=)
c.97136A= (p.His32379=)
c.78899A= (p.His26300=)
c.68753A= (p.His22918=)
2g.178530612G>ACA349407242TTN,TTN-AS1c.98299C>T (p.His32767Tyr)
c.79384C>T (p.His26462Tyr)
c.79183C>T (p.His26395Tyr)
c.78808C>T (p.His26270Tyr)
c.106003C>T (p.His35335Tyr)
c.101080C>T (p.His33694Tyr)
n.446+6976G>A
n.220-5120G>A
c.105100C>T (p.His35034Tyr)
c.78994C>T (p.His26332Tyr)
c.78853C>T (p.His26285Tyr)
c.104896C>T (p.His34966Tyr)
c.100294C>T (p.His33432Tyr)
c.100291C>T (p.His33431Tyr)
c.97333C>T (p.His32445Tyr)
c.78949C>T (p.His26317Tyr)
c.100444C>T (p.His33482Tyr)
c.100441C>T (p.His33481Tyr)
c.99874C>T (p.His33292Tyr)
c.97216C>T (p.His32406Tyr)
c.97135C>T (p.His32379Tyr)
c.78898C>T (p.His26300Tyr)
c.68752C>T (p.His22918Tyr)
 dbSNP
2g.178530612G>CCA349407243TTN,TTN-AS1c.98299C>G (p.His32767Asp)
c.79384C>G (p.His26462Asp)
c.79183C>G (p.His26395Asp)
c.78808C>G (p.His26270Asp)
c.106003C>G (p.His35335Asp)
c.101080C>G (p.His33694Asp)
n.446+6976G>C
n.220-5120G>C
c.105100C>G (p.His35034Asp)
c.78994C>G (p.His26332Asp)
c.78853C>G (p.His26285Asp)
c.104896C>G (p.His34966Asp)
c.100294C>G (p.His33432Asp)
c.100291C>G (p.His33431Asp)
c.97333C>G (p.His32445Asp)
c.78949C>G (p.His26317Asp)
c.100444C>G (p.His33482Asp)
c.100441C>G (p.His33481Asp)
c.99874C>G (p.His33292Asp)
c.97216C>G (p.His32406Asp)
c.97135C>G (p.His32379Asp)
c.78898C>G (p.His26300Asp)
c.68752C>G (p.His22918Asp)
2g.178530612G>TCA349407244TTN,TTN-AS1c.98299C>A (p.His32767Asn)
c.79384C>A (p.His26462Asn)
c.79183C>A (p.His26395Asn)
c.78808C>A (p.His26270Asn)
c.106003C>A (p.His35335Asn)
c.101080C>A (p.His33694Asn)
n.446+6976G>T
n.220-5120G>T
c.105100C>A (p.His35034Asn)
c.78994C>A (p.His26332Asn)
c.78853C>A (p.His26285Asn)
c.104896C>A (p.His34966Asn)
c.100294C>A (p.His33432Asn)
c.100291C>A (p.His33431Asn)
c.97333C>A (p.His32445Asn)
c.78949C>A (p.His26317Asn)
c.100444C>A (p.His33482Asn)
c.100441C>A (p.His33481Asn)
c.99874C>A (p.His33292Asn)
c.97216C>A (p.His32406Asn)
c.97135C>A (p.His32379Asn)
c.78898C>A (p.His26300Asn)
c.68752C>A (p.His22918Asn)
2g.178530613A>CCA349407245TTN,TTN-AS1c.98298T>G (p.Phe32766Leu)
c.79383T>G (p.Phe26461Leu)
c.79182T>G (p.Phe26394Leu)
c.78807T>G (p.Phe26269Leu)
c.106002T>G (p.Phe35334Leu)
c.101079T>G (p.Phe33693Leu)
n.446+6977A>C
n.220-5119A>C
c.105099T>G (p.Phe35033Leu)
c.78993T>G (p.Phe26331Leu)
c.78852T>G (p.Phe26284Leu)
c.104895T>G (p.Phe34965Leu)
c.100293T>G (p.Phe33431Leu)
c.100290T>G (p.Phe33430Leu)
c.97332T>G (p.Phe32444Leu)
c.78948T>G (p.Phe26316Leu)
c.100443T>G (p.Phe33481Leu)
c.100440T>G (p.Phe33480Leu)
c.99873T>G (p.Phe33291Leu)
c.97215T>G (p.Phe32405Leu)
c.97134T>G (p.Phe32378Leu)
c.78897T>G (p.Phe26299Leu)
c.68751T>G (p.Phe22917Leu)
2g.178530613A>GCA430235548TTN,TTN-AS1c.98298T>C (p.Phe32766=)
c.79383T>C (p.Phe26461=)
c.79182T>C (p.Phe26394=)
c.78807T>C (p.Phe26269=)
c.106002T>C (p.Phe35334=)
c.101079T>C (p.Phe33693=)
n.446+6977A>G
n.220-5119A>G
c.105099T>C (p.Phe35033=)
c.78993T>C (p.Phe26331=)
c.78852T>C (p.Phe26284=)
c.104895T>C (p.Phe34965=)
c.100293T>C (p.Phe33431=)
c.100290T>C (p.Phe33430=)
c.97332T>C (p.Phe32444=)
c.78948T>C (p.Phe26316=)
c.100443T>C (p.Phe33481=)
c.100440T>C (p.Phe33480=)
c.99873T>C (p.Phe33291=)
c.97215T>C (p.Phe32405=)
c.97134T>C (p.Phe32378=)
c.78897T>C (p.Phe26299=)
c.68751T>C (p.Phe22917=)
2g.178530613A>TCA349407246TTN,TTN-AS1c.98298T>A (p.Phe32766Leu)
c.79383T>A (p.Phe26461Leu)
c.79182T>A (p.Phe26394Leu)
c.78807T>A (p.Phe26269Leu)
c.106002T>A (p.Phe35334Leu)
c.101079T>A (p.Phe33693Leu)
n.446+6977A>T
n.220-5119A>T
c.105099T>A (p.Phe35033Leu)
c.78993T>A (p.Phe26331Leu)
c.78852T>A (p.Phe26284Leu)
c.104895T>A (p.Phe34965Leu)
c.100293T>A (p.Phe33431Leu)
c.100290T>A (p.Phe33430Leu)
c.97332T>A (p.Phe32444Leu)
c.78948T>A (p.Phe26316Leu)
c.100443T>A (p.Phe33481Leu)
c.100440T>A (p.Phe33480Leu)
c.99873T>A (p.Phe33291Leu)
c.97215T>A (p.Phe32405Leu)
c.97134T>A (p.Phe32378Leu)
c.78897T>A (p.Phe26299Leu)
c.68751T>A (p.Phe22917Leu)
2g.178530614A>CCA349407247TTN,TTN-AS1c.98297T>G (p.Phe32766Cys)
c.79382T>G (p.Phe26461Cys)
c.79181T>G (p.Phe26394Cys)
c.78806T>G (p.Phe26269Cys)
c.106001T>G (p.Phe35334Cys)
c.101078T>G (p.Phe33693Cys)
n.446+6978A>C
n.220-5118A>C
c.105098T>G (p.Phe35033Cys)
c.78992T>G (p.Phe26331Cys)
c.78851T>G (p.Phe26284Cys)
c.104894T>G (p.Phe34965Cys)
c.100292T>G (p.Phe33431Cys)
c.100289T>G (p.Phe33430Cys)
c.97331T>G (p.Phe32444Cys)
c.78947T>G (p.Phe26316Cys)
c.100442T>G (p.Phe33481Cys)
c.100439T>G (p.Phe33480Cys)
c.99872T>G (p.Phe33291Cys)
c.97214T>G (p.Phe32405Cys)
c.97133T>G (p.Phe32378Cys)
c.78896T>G (p.Phe26299Cys)
c.68750T>G (p.Phe22917Cys)
2g.178530614A>GCA349407248TTN,TTN-AS1c.98297T>C (p.Phe32766Ser)
c.79382T>C (p.Phe26461Ser)
c.79181T>C (p.Phe26394Ser)
c.78806T>C (p.Phe26269Ser)
c.106001T>C (p.Phe35334Ser)
c.101078T>C (p.Phe33693Ser)
n.446+6978A>G
n.220-5118A>G
c.105098T>C (p.Phe35033Ser)
c.78992T>C (p.Phe26331Ser)
c.78851T>C (p.Phe26284Ser)
c.104894T>C (p.Phe34965Ser)
c.100292T>C (p.Phe33431Ser)
c.100289T>C (p.Phe33430Ser)
c.97331T>C (p.Phe32444Ser)
c.78947T>C (p.Phe26316Ser)
c.100442T>C (p.Phe33481Ser)
c.100439T>C (p.Phe33480Ser)
c.99872T>C (p.Phe33291Ser)
c.97214T>C (p.Phe32405Ser)
c.97133T>C (p.Phe32378Ser)
c.78896T>C (p.Phe26299Ser)
c.68750T>C (p.Phe22917Ser)
2g.178530614A>TCA349407249TTN,TTN-AS1c.98297T>A (p.Phe32766Tyr)
c.79382T>A (p.Phe26461Tyr)
c.79181T>A (p.Phe26394Tyr)
c.78806T>A (p.Phe26269Tyr)
c.106001T>A (p.Phe35334Tyr)
c.101078T>A (p.Phe33693Tyr)
n.446+6978A>T
n.220-5118A>T
c.105098T>A (p.Phe35033Tyr)
c.78992T>A (p.Phe26331Tyr)
c.78851T>A (p.Phe26284Tyr)
c.104894T>A (p.Phe34965Tyr)
c.100292T>A (p.Phe33431Tyr)
c.100289T>A (p.Phe33430Tyr)
c.97331T>A (p.Phe32444Tyr)
c.78947T>A (p.Phe26316Tyr)
c.100442T>A (p.Phe33481Tyr)
c.100439T>A (p.Phe33480Tyr)
c.99872T>A (p.Phe33291Tyr)
c.97214T>A (p.Phe32405Tyr)
c.97133T>A (p.Phe32378Tyr)
c.78896T>A (p.Phe26299Tyr)
c.68750T>A (p.Phe22917Tyr)
2g.178530615A=CA1310514814TTN,TTN-AS1c.98296T= (p.Phe32766=)
c.79381T= (p.Phe26461=)
c.79180T= (p.Phe26394=)
c.78805T= (p.Phe26269=)
c.106000T= (p.Phe35334=)
c.101077T= (p.Phe33693=)
n.446+6979A=
n.220-5117A=
c.105097T= (p.Phe35033=)
c.78991T= (p.Phe26331=)
c.78850T= (p.Phe26284=)
c.104893T= (p.Phe34965=)
c.100291T= (p.Phe33431=)
c.100288T= (p.Phe33430=)
c.97330T= (p.Phe32444=)
c.78946T= (p.Phe26316=)
c.100441T= (p.Phe33481=)
c.100438T= (p.Phe33480=)
c.99871T= (p.Phe33291=)
c.97213T= (p.Phe32405=)
c.97132T= (p.Phe32378=)
c.78895T= (p.Phe26299=)
c.68749T= (p.Phe22917=)
2g.178530615A>CCA349407250TTN,TTN-AS1c.98296T>G (p.Phe32766Val)
c.79381T>G (p.Phe26461Val)
c.79180T>G (p.Phe26394Val)
c.78805T>G (p.Phe26269Val)
c.106000T>G (p.Phe35334Val)
c.101077T>G (p.Phe33693Val)
n.446+6979A>C
n.220-5117A>C
c.105097T>G (p.Phe35033Val)
c.78991T>G (p.Phe26331Val)
c.78850T>G (p.Phe26284Val)
c.104893T>G (p.Phe34965Val)
c.100291T>G (p.Phe33431Val)
c.100288T>G (p.Phe33430Val)
c.97330T>G (p.Phe32444Val)
c.78946T>G (p.Phe26316Val)
c.100441T>G (p.Phe33481Val)
c.100438T>G (p.Phe33480Val)
c.99871T>G (p.Phe33291Val)
c.97213T>G (p.Phe32405Val)
c.97132T>G (p.Phe32378Val)
c.78895T>G (p.Phe26299Val)
c.68749T>G (p.Phe22917Val)
2g.178530615A>GCA349407251TTN,TTN-AS1c.98296T>C (p.Phe32766Leu)
c.79381T>C (p.Phe26461Leu)
c.79180T>C (p.Phe26394Leu)
c.78805T>C (p.Phe26269Leu)
c.106000T>C (p.Phe35334Leu)
c.101077T>C (p.Phe33693Leu)
n.446+6979A>G
n.220-5117A>G
c.105097T>C (p.Phe35033Leu)
c.78991T>C (p.Phe26331Leu)
c.78850T>C (p.Phe26284Leu)
c.104893T>C (p.Phe34965Leu)
c.100291T>C (p.Phe33431Leu)
c.100288T>C (p.Phe33430Leu)
c.97330T>C (p.Phe32444Leu)
c.78946T>C (p.Phe26316Leu)
c.100441T>C (p.Phe33481Leu)
c.100438T>C (p.Phe33480Leu)
c.99871T>C (p.Phe33291Leu)
c.97213T>C (p.Phe32405Leu)
c.97132T>C (p.Phe32378Leu)
c.78895T>C (p.Phe26299Leu)
c.68749T>C (p.Phe22917Leu)
 dbSNP
2g.178530615A>TCA349407252TTN,TTN-AS1c.98296T>A (p.Phe32766Ile)
c.79381T>A (p.Phe26461Ile)
c.79180T>A (p.Phe26394Ile)
c.78805T>A (p.Phe26269Ile)
c.106000T>A (p.Phe35334Ile)
c.101077T>A (p.Phe33693Ile)
n.446+6979A>T
n.220-5117A>T
c.105097T>A (p.Phe35033Ile)
c.78991T>A (p.Phe26331Ile)
c.78850T>A (p.Phe26284Ile)
c.104893T>A (p.Phe34965Ile)
c.100291T>A (p.Phe33431Ile)
c.100288T>A (p.Phe33430Ile)
c.97330T>A (p.Phe32444Ile)
c.78946T>A (p.Phe26316Ile)
c.100441T>A (p.Phe33481Ile)
c.100438T>A (p.Phe33480Ile)
c.99871T>A (p.Phe33291Ile)
c.97213T>A (p.Phe32405Ile)
c.97132T>A (p.Phe32378Ile)
c.78895T>A (p.Phe26299Ile)
c.68749T>A (p.Phe22917Ile)
2g.178530616C>ACA349407253TTN,TTN-AS1c.98295G>T (p.Gln32765His)
c.79380G>T (p.Gln26460His)
c.79179G>T (p.Gln26393His)
c.78804G>T (p.Gln26268His)
c.105999G>T (p.Gln35333His)
c.101076G>T (p.Gln33692His)
n.446+6980C>A
n.220-5116C>A
c.105096G>T (p.Gln35032His)
c.78990G>T (p.Gln26330His)
c.78849G>T (p.Gln26283His)
c.104892G>T (p.Gln34964His)
c.100290G>T (p.Gln33430His)
c.100287G>T (p.Gln33429His)
c.97329G>T (p.Gln32443His)
c.78945G>T (p.Gln26315His)
c.100440G>T (p.Gln33480His)
c.100437G>T (p.Gln33479His)
c.99870G>T (p.Gln33290His)
c.97212G>T (p.Gln32404His)
c.97131G>T (p.Gln32377His)
c.78894G>T (p.Gln26298His)
c.68748G>T (p.Gln22916His)
 dbSNP gnomAD v4
2g.178530616C=CA1310514817TTN,TTN-AS1c.98295G= (p.Gln32765=)
c.79380G= (p.Gln26460=)
c.79179G= (p.Gln26393=)
c.78804G= (p.Gln26268=)
c.105999G= (p.Gln35333=)
c.101076G= (p.Gln33692=)
n.446+6980C=
n.220-5116C=
c.105096G= (p.Gln35032=)
c.78990G= (p.Gln26330=)
c.78849G= (p.Gln26283=)
c.104892G= (p.Gln34964=)
c.100290G= (p.Gln33430=)
c.100287G= (p.Gln33429=)
c.97329G= (p.Gln32443=)
c.78945G= (p.Gln26315=)
c.100440G= (p.Gln33480=)
c.100437G= (p.Gln33479=)
c.99870G= (p.Gln33290=)
c.97212G= (p.Gln32404=)
c.97131G= (p.Gln32377=)
c.78894G= (p.Gln26298=)
c.68748G= (p.Gln22916=)
2g.178530616C>GCA349407254TTN,TTN-AS1c.98295G>C (p.Gln32765His)
c.79380G>C (p.Gln26460His)
c.79179G>C (p.Gln26393His)
c.78804G>C (p.Gln26268His)
c.105999G>C (p.Gln35333His)
c.101076G>C (p.Gln33692His)
n.446+6980C>G
n.220-5116C>G
c.105096G>C (p.Gln35032His)
c.78990G>C (p.Gln26330His)
c.78849G>C (p.Gln26283His)
c.104892G>C (p.Gln34964His)
c.100290G>C (p.Gln33430His)
c.100287G>C (p.Gln33429His)
c.97329G>C (p.Gln32443His)
c.78945G>C (p.Gln26315His)
c.100440G>C (p.Gln33480His)
c.100437G>C (p.Gln33479His)
c.99870G>C (p.Gln33290His)
c.97212G>C (p.Gln32404His)
c.97131G>C (p.Gln32377His)
c.78894G>C (p.Gln26298His)
c.68748G>C (p.Gln22916His)
2g.178530616C>TCA1985181TTN,TTN-AS1c.98295G>A (p.Gln32765=)
c.79380G>A (p.Gln26460=)
c.79179G>A (p.Gln26393=)
c.78804G>A (p.Gln26268=)
c.105999G>A (p.Gln35333=)
c.101076G>A (p.Gln33692=)
n.446+6980C>T
n.220-5116C>T
c.105096G>A (p.Gln35032=)
c.78990G>A (p.Gln26330=)
c.78849G>A (p.Gln26283=)
c.104892G>A (p.Gln34964=)
c.100290G>A (p.Gln33430=)
c.100287G>A (p.Gln33429=)
c.97329G>A (p.Gln32443=)
c.78945G>A (p.Gln26315=)
c.100440G>A (p.Gln33480=)
c.100437G>A (p.Gln33479=)
c.99870G>A (p.Gln33290=)
c.97212G>A (p.Gln32404=)
c.97131G>A (p.Gln32377=)
c.78894G>A (p.Gln26298=)
c.68748G>A (p.Gln22916=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530617T>ACA349407255TTN,TTN-AS1c.98294A>T (p.Gln32765Leu)
c.79379A>T (p.Gln26460Leu)
c.79178A>T (p.Gln26393Leu)
c.78803A>T (p.Gln26268Leu)
c.105998A>T (p.Gln35333Leu)
c.101075A>T (p.Gln33692Leu)
n.446+6981T>A
n.220-5115T>A
c.105095A>T (p.Gln35032Leu)
c.78989A>T (p.Gln26330Leu)
c.78848A>T (p.Gln26283Leu)
c.104891A>T (p.Gln34964Leu)
c.100289A>T (p.Gln33430Leu)
c.100286A>T (p.Gln33429Leu)
c.97328A>T (p.Gln32443Leu)
c.78944A>T (p.Gln26315Leu)
c.100439A>T (p.Gln33480Leu)
c.100436A>T (p.Gln33479Leu)
c.99869A>T (p.Gln33290Leu)
c.97211A>T (p.Gln32404Leu)
c.97130A>T (p.Gln32377Leu)
c.78893A>T (p.Gln26298Leu)
c.68747A>T (p.Gln22916Leu)
2g.178530617T>CCA349407256TTN,TTN-AS1c.98294A>G (p.Gln32765Arg)
c.79379A>G (p.Gln26460Arg)
c.79178A>G (p.Gln26393Arg)
c.78803A>G (p.Gln26268Arg)
c.105998A>G (p.Gln35333Arg)
c.101075A>G (p.Gln33692Arg)
n.446+6981T>C
n.220-5115T>C
c.105095A>G (p.Gln35032Arg)
c.78989A>G (p.Gln26330Arg)
c.78848A>G (p.Gln26283Arg)
c.104891A>G (p.Gln34964Arg)
c.100289A>G (p.Gln33430Arg)
c.100286A>G (p.Gln33429Arg)
c.97328A>G (p.Gln32443Arg)
c.78944A>G (p.Gln26315Arg)
c.100439A>G (p.Gln33480Arg)
c.100436A>G (p.Gln33479Arg)
c.99869A>G (p.Gln33290Arg)
c.97211A>G (p.Gln32404Arg)
c.97130A>G (p.Gln32377Arg)
c.78893A>G (p.Gln26298Arg)
c.68747A>G (p.Gln22916Arg)
2g.178530617T>GCA349407257TTN,TTN-AS1c.98294A>C (p.Gln32765Pro)
c.79379A>C (p.Gln26460Pro)
c.79178A>C (p.Gln26393Pro)
c.78803A>C (p.Gln26268Pro)
c.105998A>C (p.Gln35333Pro)
c.101075A>C (p.Gln33692Pro)
n.446+6981T>G
n.220-5115T>G
c.105095A>C (p.Gln35032Pro)
c.78989A>C (p.Gln26330Pro)
c.78848A>C (p.Gln26283Pro)
c.104891A>C (p.Gln34964Pro)
c.100289A>C (p.Gln33430Pro)
c.100286A>C (p.Gln33429Pro)
c.97328A>C (p.Gln32443Pro)
c.78944A>C (p.Gln26315Pro)
c.100439A>C (p.Gln33480Pro)
c.100436A>C (p.Gln33479Pro)
c.99869A>C (p.Gln33290Pro)
c.97211A>C (p.Gln32404Pro)
c.97130A>C (p.Gln32377Pro)
c.78893A>C (p.Gln26298Pro)
c.68747A>C (p.Gln22916Pro)
2g.178530617_178530618delCA2740095950TTN,TTN-AS1c.98293_98294del (p.Gln32765ValfsTer10)
c.79378_79379del (p.Gln26460ValfsTer10)
c.79177_79178del (p.Gln26393ValfsTer10)
c.78802_78803del (p.Gln26268ValfsTer10)
c.105997_105998del (p.Gln35333ValfsTer10)
c.101074_101075del (p.Gln33692ValfsTer10)
n.446+6981_446+6982del
n.220-5115_220-5114del
c.105094_105095del (p.Gln35032ValfsTer10)
c.78988_78989del (p.Gln26330ValfsTer10)
c.78847_78848del (p.Gln26283ValfsTer10)
c.104890_104891del (p.Gln34964ValfsTer10)
c.100288_100289del (p.Gln33430ValfsTer10)
c.100285_100286del (p.Gln33429ValfsTer10)
c.97327_97328del (p.Gln32443ValfsTer10)
c.78943_78944del (p.Gln26315ValfsTer10)
c.100438_100439del (p.Gln33480ValfsTer10)
c.100435_100436del (p.Gln33479ValfsTer10)
c.99868_99869del (p.Gln33290ValfsTer10)
c.97210_97211del (p.Gln32404ValfsTer10)
c.97129_97130del (p.Gln32377ValfsTer10)
c.78892_78893del (p.Gln26298ValfsTer10)
c.68746_68747del (p.Gln22916ValfsTer10)
 ClinVar
2g.178530618G>ACA349407258TTN,TTN-AS1c.98293C>T (p.Gln32765Ter)
c.79378C>T (p.Gln26460Ter)
c.79177C>T (p.Gln26393Ter)
c.78802C>T (p.Gln26268Ter)
c.105997C>T (p.Gln35333Ter)
c.101074C>T (p.Gln33692Ter)
n.446+6982G>A
n.220-5114G>A
c.105094C>T (p.Gln35032Ter)
c.78988C>T (p.Gln26330Ter)
c.78847C>T (p.Gln26283Ter)
c.104890C>T (p.Gln34964Ter)
c.100288C>T (p.Gln33430Ter)
c.100285C>T (p.Gln33429Ter)
c.97327C>T (p.Gln32443Ter)
c.78943C>T (p.Gln26315Ter)
c.100438C>T (p.Gln33480Ter)
c.100435C>T (p.Gln33479Ter)
c.99868C>T (p.Gln33290Ter)
c.97210C>T (p.Gln32404Ter)
c.97129C>T (p.Gln32377Ter)
c.78892C>T (p.Gln26298Ter)
c.68746C>T (p.Gln22916Ter)
2g.178530618G>CCA349407259TTN,TTN-AS1c.98293C>G (p.Gln32765Glu)
c.79378C>G (p.Gln26460Glu)
c.79177C>G (p.Gln26393Glu)
c.78802C>G (p.Gln26268Glu)
c.105997C>G (p.Gln35333Glu)
c.101074C>G (p.Gln33692Glu)
n.446+6982G>C
n.220-5114G>C
c.105094C>G (p.Gln35032Glu)
c.78988C>G (p.Gln26330Glu)
c.78847C>G (p.Gln26283Glu)
c.104890C>G (p.Gln34964Glu)
c.100288C>G (p.Gln33430Glu)
c.100285C>G (p.Gln33429Glu)
c.97327C>G (p.Gln32443Glu)
c.78943C>G (p.Gln26315Glu)
c.100438C>G (p.Gln33480Glu)
c.100435C>G (p.Gln33479Glu)
c.99868C>G (p.Gln33290Glu)
c.97210C>G (p.Gln32404Glu)
c.97129C>G (p.Gln32377Glu)
c.78892C>G (p.Gln26298Glu)
c.68746C>G (p.Gln22916Glu)
2g.178530618G>TCA349407260TTN,TTN-AS1c.98293C>A (p.Gln32765Lys)
c.79378C>A (p.Gln26460Lys)
c.79177C>A (p.Gln26393Lys)
c.78802C>A (p.Gln26268Lys)
c.105997C>A (p.Gln35333Lys)
c.101074C>A (p.Gln33692Lys)
n.446+6982G>T
n.220-5114G>T
c.105094C>A (p.Gln35032Lys)
c.78988C>A (p.Gln26330Lys)
c.78847C>A (p.Gln26283Lys)
c.104890C>A (p.Gln34964Lys)
c.100288C>A (p.Gln33430Lys)
c.100285C>A (p.Gln33429Lys)
c.97327C>A (p.Gln32443Lys)
c.78943C>A (p.Gln26315Lys)
c.100438C>A (p.Gln33480Lys)
c.100435C>A (p.Gln33479Lys)
c.99868C>A (p.Gln33290Lys)
c.97210C>A (p.Gln32404Lys)
c.97129C>A (p.Gln32377Lys)
c.78892C>A (p.Gln26298Lys)
c.68746C>A (p.Gln22916Lys)
2g.178530619G>ACA430235559TTN,TTN-AS1c.98292C>T (p.Phe32764=)
c.79377C>T (p.Phe26459=)
c.79176C>T (p.Phe26392=)
c.78801C>T (p.Phe26267=)
c.105996C>T (p.Phe35332=)
c.101073C>T (p.Phe33691=)
n.446+6983G>A
n.220-5113G>A
c.105093C>T (p.Phe35031=)
c.78987C>T (p.Phe26329=)
c.78846C>T (p.Phe26282=)
c.104889C>T (p.Phe34963=)
c.100287C>T (p.Phe33429=)
c.100284C>T (p.Phe33428=)
c.97326C>T (p.Phe32442=)
c.78942C>T (p.Phe26314=)
c.100437C>T (p.Phe33479=)
c.100434C>T (p.Phe33478=)
c.99867C>T (p.Phe33289=)
c.97209C>T (p.Phe32403=)
c.97128C>T (p.Phe32376=)
c.78891C>T (p.Phe26297=)
c.68745C>T (p.Phe22915=)
2g.178530619G>CCA349407261TTN,TTN-AS1c.98292C>G (p.Phe32764Leu)
c.79377C>G (p.Phe26459Leu)
c.79176C>G (p.Phe26392Leu)
c.78801C>G (p.Phe26267Leu)
c.105996C>G (p.Phe35332Leu)
c.101073C>G (p.Phe33691Leu)
n.446+6983G>C
n.220-5113G>C
c.105093C>G (p.Phe35031Leu)
c.78987C>G (p.Phe26329Leu)
c.78846C>G (p.Phe26282Leu)
c.104889C>G (p.Phe34963Leu)
c.100287C>G (p.Phe33429Leu)
c.100284C>G (p.Phe33428Leu)
c.97326C>G (p.Phe32442Leu)
c.78942C>G (p.Phe26314Leu)
c.100437C>G (p.Phe33479Leu)
c.100434C>G (p.Phe33478Leu)
c.99867C>G (p.Phe33289Leu)
c.97209C>G (p.Phe32403Leu)
c.97128C>G (p.Phe32376Leu)
c.78891C>G (p.Phe26297Leu)
c.68745C>G (p.Phe22915Leu)
2g.178530619G>TCA349407262TTN,TTN-AS1c.98292C>A (p.Phe32764Leu)
c.79377C>A (p.Phe26459Leu)
c.79176C>A (p.Phe26392Leu)
c.78801C>A (p.Phe26267Leu)
c.105996C>A (p.Phe35332Leu)
c.101073C>A (p.Phe33691Leu)
n.446+6983G>T
n.220-5113G>T
c.105093C>A (p.Phe35031Leu)
c.78987C>A (p.Phe26329Leu)
c.78846C>A (p.Phe26282Leu)
c.104889C>A (p.Phe34963Leu)
c.100287C>A (p.Phe33429Leu)
c.100284C>A (p.Phe33428Leu)
c.97326C>A (p.Phe32442Leu)
c.78942C>A (p.Phe26314Leu)
c.100437C>A (p.Phe33479Leu)
c.100434C>A (p.Phe33478Leu)
c.99867C>A (p.Phe33289Leu)
c.97209C>A (p.Phe32403Leu)
c.97128C>A (p.Phe32376Leu)
c.78891C>A (p.Phe26297Leu)
c.68745C>A (p.Phe22915Leu)
2g.178530620A>CCA349407263TTN,TTN-AS1c.98291T>G (p.Phe32764Cys)
c.79376T>G (p.Phe26459Cys)
c.79175T>G (p.Phe26392Cys)
c.78800T>G (p.Phe26267Cys)
c.105995T>G (p.Phe35332Cys)
c.101072T>G (p.Phe33691Cys)
n.446+6984A>C
n.220-5112A>C
c.105092T>G (p.Phe35031Cys)
c.78986T>G (p.Phe26329Cys)
c.78845T>G (p.Phe26282Cys)
c.104888T>G (p.Phe34963Cys)
c.100286T>G (p.Phe33429Cys)
c.100283T>G (p.Phe33428Cys)
c.97325T>G (p.Phe32442Cys)
c.78941T>G (p.Phe26314Cys)
c.100436T>G (p.Phe33479Cys)
c.100433T>G (p.Phe33478Cys)
c.99866T>G (p.Phe33289Cys)
c.97208T>G (p.Phe32403Cys)
c.97127T>G (p.Phe32376Cys)
c.78890T>G (p.Phe26297Cys)
c.68744T>G (p.Phe22915Cys)
2g.178530620A>GCA349407264TTN,TTN-AS1c.98291T>C (p.Phe32764Ser)
c.79376T>C (p.Phe26459Ser)
c.79175T>C (p.Phe26392Ser)
c.78800T>C (p.Phe26267Ser)
c.105995T>C (p.Phe35332Ser)
c.101072T>C (p.Phe33691Ser)
n.446+6984A>G
n.220-5112A>G
c.105092T>C (p.Phe35031Ser)
c.78986T>C (p.Phe26329Ser)
c.78845T>C (p.Phe26282Ser)
c.104888T>C (p.Phe34963Ser)
c.100286T>C (p.Phe33429Ser)
c.100283T>C (p.Phe33428Ser)
c.97325T>C (p.Phe32442Ser)
c.78941T>C (p.Phe26314Ser)
c.100436T>C (p.Phe33479Ser)
c.100433T>C (p.Phe33478Ser)
c.99866T>C (p.Phe33289Ser)
c.97208T>C (p.Phe32403Ser)
c.97127T>C (p.Phe32376Ser)
c.78890T>C (p.Phe26297Ser)
c.68744T>C (p.Phe22915Ser)
2g.178530620A>TCA349407265TTN,TTN-AS1c.98291T>A (p.Phe32764Tyr)
c.79376T>A (p.Phe26459Tyr)
c.79175T>A (p.Phe26392Tyr)
c.78800T>A (p.Phe26267Tyr)
c.105995T>A (p.Phe35332Tyr)
c.101072T>A (p.Phe33691Tyr)
n.446+6984A>T
n.220-5112A>T
c.105092T>A (p.Phe35031Tyr)
c.78986T>A (p.Phe26329Tyr)
c.78845T>A (p.Phe26282Tyr)
c.104888T>A (p.Phe34963Tyr)
c.100286T>A (p.Phe33429Tyr)
c.100283T>A (p.Phe33428Tyr)
c.97325T>A (p.Phe32442Tyr)
c.78941T>A (p.Phe26314Tyr)
c.100436T>A (p.Phe33479Tyr)
c.100433T>A (p.Phe33478Tyr)
c.99866T>A (p.Phe33289Tyr)
c.97208T>A (p.Phe32403Tyr)
c.97127T>A (p.Phe32376Tyr)
c.78890T>A (p.Phe26297Tyr)
c.68744T>A (p.Phe22915Tyr)
2g.178530621A>CCA349407266TTN,TTN-AS1c.98290T>G (p.Phe32764Val)
c.79375T>G (p.Phe26459Val)
c.79174T>G (p.Phe26392Val)
c.78799T>G (p.Phe26267Val)
c.105994T>G (p.Phe35332Val)
c.101071T>G (p.Phe33691Val)
n.446+6985A>C
n.220-5111A>C
c.105091T>G (p.Phe35031Val)
c.78985T>G (p.Phe26329Val)
c.78844T>G (p.Phe26282Val)
c.104887T>G (p.Phe34963Val)
c.100285T>G (p.Phe33429Val)
c.100282T>G (p.Phe33428Val)
c.97324T>G (p.Phe32442Val)
c.78940T>G (p.Phe26314Val)
c.100435T>G (p.Phe33479Val)
c.100432T>G (p.Phe33478Val)
c.99865T>G (p.Phe33289Val)
c.97207T>G (p.Phe32403Val)
c.97126T>G (p.Phe32376Val)
c.78889T>G (p.Phe26297Val)
c.68743T>G (p.Phe22915Val)
 COSMIC COSMIC COSMIC COSMIC
2g.178530621A>GCA349407267TTN,TTN-AS1c.98290T>C (p.Phe32764Leu)
c.79375T>C (p.Phe26459Leu)
c.79174T>C (p.Phe26392Leu)
c.78799T>C (p.Phe26267Leu)
c.105994T>C (p.Phe35332Leu)
c.101071T>C (p.Phe33691Leu)
n.446+6985A>G
n.220-5111A>G
c.105091T>C (p.Phe35031Leu)
c.78985T>C (p.Phe26329Leu)
c.78844T>C (p.Phe26282Leu)
c.104887T>C (p.Phe34963Leu)
c.100285T>C (p.Phe33429Leu)
c.100282T>C (p.Phe33428Leu)
c.97324T>C (p.Phe32442Leu)
c.78940T>C (p.Phe26314Leu)
c.100435T>C (p.Phe33479Leu)
c.100432T>C (p.Phe33478Leu)
c.99865T>C (p.Phe33289Leu)
c.97207T>C (p.Phe32403Leu)
c.97126T>C (p.Phe32376Leu)
c.78889T>C (p.Phe26297Leu)
c.68743T>C (p.Phe22915Leu)
2g.178530621A>TCA349407268TTN,TTN-AS1c.98290T>A (p.Phe32764Ile)
c.79375T>A (p.Phe26459Ile)
c.79174T>A (p.Phe26392Ile)
c.78799T>A (p.Phe26267Ile)
c.105994T>A (p.Phe35332Ile)
c.101071T>A (p.Phe33691Ile)
n.446+6985A>T
n.220-5111A>T
c.105091T>A (p.Phe35031Ile)
c.78985T>A (p.Phe26329Ile)
c.78844T>A (p.Phe26282Ile)
c.104887T>A (p.Phe34963Ile)
c.100285T>A (p.Phe33429Ile)
c.100282T>A (p.Phe33428Ile)
c.97324T>A (p.Phe32442Ile)
c.78940T>A (p.Phe26314Ile)
c.100435T>A (p.Phe33479Ile)
c.100432T>A (p.Phe33478Ile)
c.99865T>A (p.Phe33289Ile)
c.97207T>A (p.Phe32403Ile)
c.97126T>A (p.Phe32376Ile)
c.78889T>A (p.Phe26297Ile)
c.68743T>A (p.Phe22915Ile)
2g.178530622A>CCA349407270TTN,TTN-AS1c.98289T>G (p.His32763Gln)
c.79374T>G (p.His26458Gln)
c.79173T>G (p.His26391Gln)
c.78798T>G (p.His26266Gln)
c.105993T>G (p.His35331Gln)
c.101070T>G (p.His33690Gln)
n.446+6986A>C
n.220-5110A>C
c.105090T>G (p.His35030Gln)
c.78984T>G (p.His26328Gln)
c.78843T>G (p.His26281Gln)
c.104886T>G (p.His34962Gln)
c.100284T>G (p.His33428Gln)
c.100281T>G (p.His33427Gln)
c.97323T>G (p.His32441Gln)
c.78939T>G (p.His26313Gln)
c.100434T>G (p.His33478Gln)
c.100431T>G (p.His33477Gln)
c.99864T>G (p.His33288Gln)
c.97206T>G (p.His32402Gln)
c.97125T>G (p.His32375Gln)
c.78888T>G (p.His26296Gln)
c.68742T>G (p.His22914Gln)
2g.178530622A>GCA430235572TTN,TTN-AS1c.98289T>C (p.His32763=)
c.79374T>C (p.His26458=)
c.79173T>C (p.His26391=)
c.78798T>C (p.His26266=)
c.105993T>C (p.His35331=)
c.101070T>C (p.His33690=)
n.446+6986A>G
n.220-5110A>G
c.105090T>C (p.His35030=)
c.78984T>C (p.His26328=)
c.78843T>C (p.His26281=)
c.104886T>C (p.His34962=)
c.100284T>C (p.His33428=)
c.100281T>C (p.His33427=)
c.97323T>C (p.His32441=)
c.78939T>C (p.His26313=)
c.100434T>C (p.His33478=)
c.100431T>C (p.His33477=)
c.99864T>C (p.His33288=)
c.97206T>C (p.His32402=)
c.97125T>C (p.His32375=)
c.78888T>C (p.His26296=)
c.68742T>C (p.His22914=)
2g.178530622A>TCA349407269TTN,TTN-AS1c.98289T>A (p.His32763Gln)
c.79374T>A (p.His26458Gln)
c.79173T>A (p.His26391Gln)
c.78798T>A (p.His26266Gln)
c.105993T>A (p.His35331Gln)
c.101070T>A (p.His33690Gln)
n.446+6986A>T
n.220-5110A>T
c.105090T>A (p.His35030Gln)
c.78984T>A (p.His26328Gln)
c.78843T>A (p.His26281Gln)
c.104886T>A (p.His34962Gln)
c.100284T>A (p.His33428Gln)
c.100281T>A (p.His33427Gln)
c.97323T>A (p.His32441Gln)
c.78939T>A (p.His26313Gln)
c.100434T>A (p.His33478Gln)
c.100431T>A (p.His33477Gln)
c.99864T>A (p.His33288Gln)
c.97206T>A (p.His32402Gln)
c.97125T>A (p.His32375Gln)
c.78888T>A (p.His26296Gln)
c.68742T>A (p.His22914Gln)
2g.178530623T>ACA349407271TTN,TTN-AS1c.98288A>T (p.His32763Leu)
c.79373A>T (p.His26458Leu)
c.79172A>T (p.His26391Leu)
c.78797A>T (p.His26266Leu)
c.105992A>T (p.His35331Leu)
c.101069A>T (p.His33690Leu)
n.446+6987T>A
n.220-5109T>A
c.105089A>T (p.His35030Leu)
c.78983A>T (p.His26328Leu)
c.78842A>T (p.His26281Leu)
c.104885A>T (p.His34962Leu)
c.100283A>T (p.His33428Leu)
c.100280A>T (p.His33427Leu)
c.97322A>T (p.His32441Leu)
c.78938A>T (p.His26313Leu)
c.100433A>T (p.His33478Leu)
c.100430A>T (p.His33477Leu)
c.99863A>T (p.His33288Leu)
c.97205A>T (p.His32402Leu)
c.97124A>T (p.His32375Leu)
c.78887A>T (p.His26296Leu)
c.68741A>T (p.His22914Leu)
2g.178530623T>CCA349407272TTN,TTN-AS1c.98288A>G (p.His32763Arg)
c.79373A>G (p.His26458Arg)
c.79172A>G (p.His26391Arg)
c.78797A>G (p.His26266Arg)
c.105992A>G (p.His35331Arg)
c.101069A>G (p.His33690Arg)
n.446+6987T>C
n.220-5109T>C
c.105089A>G (p.His35030Arg)
c.78983A>G (p.His26328Arg)
c.78842A>G (p.His26281Arg)
c.104885A>G (p.His34962Arg)
c.100283A>G (p.His33428Arg)
c.100280A>G (p.His33427Arg)
c.97322A>G (p.His32441Arg)
c.78938A>G (p.His26313Arg)
c.100433A>G (p.His33478Arg)
c.100430A>G (p.His33477Arg)
c.99863A>G (p.His33288Arg)
c.97205A>G (p.His32402Arg)
c.97124A>G (p.His32375Arg)
c.78887A>G (p.His26296Arg)
c.68741A>G (p.His22914Arg)
2g.178530623T>GCA349407273TTN,TTN-AS1c.98288A>C (p.His32763Pro)
c.79373A>C (p.His26458Pro)
c.79172A>C (p.His26391Pro)
c.78797A>C (p.His26266Pro)
c.105992A>C (p.His35331Pro)
c.101069A>C (p.His33690Pro)
n.446+6987T>G
n.220-5109T>G
c.105089A>C (p.His35030Pro)
c.78983A>C (p.His26328Pro)
c.78842A>C (p.His26281Pro)
c.104885A>C (p.His34962Pro)
c.100283A>C (p.His33428Pro)
c.100280A>C (p.His33427Pro)
c.97322A>C (p.His32441Pro)
c.78938A>C (p.His26313Pro)
c.100433A>C (p.His33478Pro)
c.100430A>C (p.His33477Pro)
c.99863A>C (p.His33288Pro)
c.97205A>C (p.His32402Pro)
c.97124A>C (p.His32375Pro)
c.78887A>C (p.His26296Pro)
c.68741A>C (p.His22914Pro)
2g.178530624G>ACA349407274TTN,TTN-AS1c.98287C>T (p.His32763Tyr)
c.79372C>T (p.His26458Tyr)
c.79171C>T (p.His26391Tyr)
c.78796C>T (p.His26266Tyr)
c.105991C>T (p.His35331Tyr)
c.101068C>T (p.His33690Tyr)
n.446+6988G>A
n.220-5108G>A
c.105088C>T (p.His35030Tyr)
c.78982C>T (p.His26328Tyr)
c.78841C>T (p.His26281Tyr)
c.104884C>T (p.His34962Tyr)
c.100282C>T (p.His33428Tyr)
c.100279C>T (p.His33427Tyr)
c.97321C>T (p.His32441Tyr)
c.78937C>T (p.His26313Tyr)
c.100432C>T (p.His33478Tyr)
c.100429C>T (p.His33477Tyr)
c.99862C>T (p.His33288Tyr)
c.97204C>T (p.His32402Tyr)
c.97123C>T (p.His32375Tyr)
c.78886C>T (p.His26296Tyr)
c.68740C>T (p.His22914Tyr)
 gnomAD v4
2g.178530624G>CCA349407275TTN,TTN-AS1c.98287C>G (p.His32763Asp)
c.79372C>G (p.His26458Asp)
c.79171C>G (p.His26391Asp)
c.78796C>G (p.His26266Asp)
c.105991C>G (p.His35331Asp)
c.101068C>G (p.His33690Asp)
n.446+6988G>C
n.220-5108G>C
c.105088C>G (p.His35030Asp)
c.78982C>G (p.His26328Asp)
c.78841C>G (p.His26281Asp)
c.104884C>G (p.His34962Asp)
c.100282C>G (p.His33428Asp)
c.100279C>G (p.His33427Asp)
c.97321C>G (p.His32441Asp)
c.78937C>G (p.His26313Asp)
c.100432C>G (p.His33478Asp)
c.100429C>G (p.His33477Asp)
c.99862C>G (p.His33288Asp)
c.97204C>G (p.His32402Asp)
c.97123C>G (p.His32375Asp)
c.78886C>G (p.His26296Asp)
c.68740C>G (p.His22914Asp)
2g.178530624G=CA1310514819TTN,TTN-AS1c.98287C= (p.His32763=)
c.79372C= (p.His26458=)
c.79171C= (p.His26391=)
c.78796C= (p.His26266=)
c.105991C= (p.His35331=)
c.101068C= (p.His33690=)
n.446+6988G=
n.220-5108G=
c.105088C= (p.His35030=)
c.78982C= (p.His26328=)
c.78841C= (p.His26281=)
c.104884C= (p.His34962=)
c.100282C= (p.His33428=)
c.100279C= (p.His33427=)
c.97321C= (p.His32441=)
c.78937C= (p.His26313=)
c.100432C= (p.His33478=)
c.100429C= (p.His33477=)
c.99862C= (p.His33288=)
c.97204C= (p.His32402=)
c.97123C= (p.His32375=)
c.78886C= (p.His26296=)
c.68740C= (p.His22914=)
2g.178530624G>TCA1985182TTN,TTN-AS1c.98287C>A (p.His32763Asn)
c.79372C>A (p.His26458Asn)
c.79171C>A (p.His26391Asn)
c.78796C>A (p.His26266Asn)
c.105991C>A (p.His35331Asn)
c.101068C>A (p.His33690Asn)
n.446+6988G>T
n.220-5108G>T
c.105088C>A (p.His35030Asn)
c.78982C>A (p.His26328Asn)
c.78841C>A (p.His26281Asn)
c.104884C>A (p.His34962Asn)
c.100282C>A (p.His33428Asn)
c.100279C>A (p.His33427Asn)
c.97321C>A (p.His32441Asn)
c.78937C>A (p.His26313Asn)
c.100432C>A (p.His33478Asn)
c.100429C>A (p.His33477Asn)
c.99862C>A (p.His33288Asn)
c.97204C>A (p.His32402Asn)
c.97123C>A (p.His32375Asn)
c.78886C>A (p.His26296Asn)
c.68740C>A (p.His22914Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530625C>ACA430235590TTN,TTN-AS1c.98286G>T (p.Gly32762=)
c.79371G>T (p.Gly26457=)
c.79170G>T (p.Gly26390=)
c.78795G>T (p.Gly26265=)
c.105990G>T (p.Gly35330=)
c.101067G>T (p.Gly33689=)
n.446+6989C>A
n.220-5107C>A
c.105087G>T (p.Gly35029=)
c.78981G>T (p.Gly26327=)
c.78840G>T (p.Gly26280=)
c.104883G>T (p.Gly34961=)
c.100281G>T (p.Gly33427=)
c.100278G>T (p.Gly33426=)
c.97320G>T (p.Gly32440=)
c.78936G>T (p.Gly26312=)
c.100431G>T (p.Gly33477=)
c.100428G>T (p.Gly33476=)
c.99861G>T (p.Gly33287=)
c.97203G>T (p.Gly32401=)
c.97122G>T (p.Gly32374=)
c.78885G>T (p.Gly26295=)
c.68739G>T (p.Gly22913=)
2g.178530625C=CA1310514821TTN,TTN-AS1c.98286G= (p.Gly32762=)
c.79371G= (p.Gly26457=)
c.79170G= (p.Gly26390=)
c.78795G= (p.Gly26265=)
c.105990G= (p.Gly35330=)
c.101067G= (p.Gly33689=)
n.446+6989C=
n.220-5107C=
c.105087G= (p.Gly35029=)
c.78981G= (p.Gly26327=)
c.78840G= (p.Gly26280=)
c.104883G= (p.Gly34961=)
c.100281G= (p.Gly33427=)
c.100278G= (p.Gly33426=)
c.97320G= (p.Gly32440=)
c.78936G= (p.Gly26312=)
c.100431G= (p.Gly33477=)
c.100428G= (p.Gly33476=)
c.99861G= (p.Gly33287=)
c.97203G= (p.Gly32401=)
c.97122G= (p.Gly32374=)
c.78885G= (p.Gly26295=)
c.68739G= (p.Gly22913=)
2g.178530625C>GCA430235580TTN,TTN-AS1c.98286G>C (p.Gly32762=)
c.79371G>C (p.Gly26457=)
c.79170G>C (p.Gly26390=)
c.78795G>C (p.Gly26265=)
c.105990G>C (p.Gly35330=)
c.101067G>C (p.Gly33689=)
n.446+6989C>G
n.220-5107C>G
c.105087G>C (p.Gly35029=)
c.78981G>C (p.Gly26327=)
c.78840G>C (p.Gly26280=)
c.104883G>C (p.Gly34961=)
c.100281G>C (p.Gly33427=)
c.100278G>C (p.Gly33426=)
c.97320G>C (p.Gly32440=)
c.78936G>C (p.Gly26312=)
c.100431G>C (p.Gly33477=)
c.100428G>C (p.Gly33476=)
c.99861G>C (p.Gly33287=)
c.97203G>C (p.Gly32401=)
c.97122G>C (p.Gly32374=)
c.78885G>C (p.Gly26295=)
c.68739G>C (p.Gly22913=)
 dbSNP
2g.178530625C>TCA430235577TTN,TTN-AS1c.98286G>A (p.Gly32762=)
c.79371G>A (p.Gly26457=)
c.79170G>A (p.Gly26390=)
c.78795G>A (p.Gly26265=)
c.105990G>A (p.Gly35330=)
c.101067G>A (p.Gly33689=)
n.446+6989C>T
n.220-5107C>T
c.105087G>A (p.Gly35029=)
c.78981G>A (p.Gly26327=)
c.78840G>A (p.Gly26280=)
c.104883G>A (p.Gly34961=)
c.100281G>A (p.Gly33427=)
c.100278G>A (p.Gly33426=)
c.97320G>A (p.Gly32440=)
c.78936G>A (p.Gly26312=)
c.100431G>A (p.Gly33477=)
c.100428G>A (p.Gly33476=)
c.99861G>A (p.Gly33287=)
c.97203G>A (p.Gly32401=)
c.97122G>A (p.Gly32374=)
c.78885G>A (p.Gly26295=)
c.68739G>A (p.Gly22913=)
 dbSNP gnomAD v2
2g.178530626C>ACA349407278TTN,TTN-AS1c.98285G>T (p.Gly32762Val)
c.79370G>T (p.Gly26457Val)
c.79169G>T (p.Gly26390Val)
c.78794G>T (p.Gly26265Val)
c.105989G>T (p.Gly35330Val)
c.101066G>T (p.Gly33689Val)
n.446+6990C>A
n.220-5106C>A
c.105086G>T (p.Gly35029Val)
c.78980G>T (p.Gly26327Val)
c.78839G>T (p.Gly26280Val)
c.104882G>T (p.Gly34961Val)
c.100280G>T (p.Gly33427Val)
c.100277G>T (p.Gly33426Val)
c.97319G>T (p.Gly32440Val)
c.78935G>T (p.Gly26312Val)
c.100430G>T (p.Gly33477Val)
c.100427G>T (p.Gly33476Val)
c.99860G>T (p.Gly33287Val)
c.97202G>T (p.Gly32401Val)
c.97121G>T (p.Gly32374Val)
c.78884G>T (p.Gly26295Val)
c.68738G>T (p.Gly22913Val)
2g.178530626C>GCA349407276TTN,TTN-AS1c.98285G>C (p.Gly32762Ala)
c.79370G>C (p.Gly26457Ala)
c.79169G>C (p.Gly26390Ala)
c.78794G>C (p.Gly26265Ala)
c.105989G>C (p.Gly35330Ala)
c.101066G>C (p.Gly33689Ala)
n.446+6990C>G
n.220-5106C>G
c.105086G>C (p.Gly35029Ala)
c.78980G>C (p.Gly26327Ala)
c.78839G>C (p.Gly26280Ala)
c.104882G>C (p.Gly34961Ala)
c.100280G>C (p.Gly33427Ala)
c.100277G>C (p.Gly33426Ala)
c.97319G>C (p.Gly32440Ala)
c.78935G>C (p.Gly26312Ala)
c.100430G>C (p.Gly33477Ala)
c.100427G>C (p.Gly33476Ala)
c.99860G>C (p.Gly33287Ala)
c.97202G>C (p.Gly32401Ala)
c.97121G>C (p.Gly32374Ala)
c.78884G>C (p.Gly26295Ala)
c.68738G>C (p.Gly22913Ala)
2g.178530626C>TCA349407277TTN,TTN-AS1c.98285G>A (p.Gly32762Glu)
c.79370G>A (p.Gly26457Glu)
c.79169G>A (p.Gly26390Glu)
c.78794G>A (p.Gly26265Glu)
c.105989G>A (p.Gly35330Glu)
c.101066G>A (p.Gly33689Glu)
n.446+6990C>T
n.220-5106C>T
c.105086G>A (p.Gly35029Glu)
c.78980G>A (p.Gly26327Glu)
c.78839G>A (p.Gly26280Glu)
c.104882G>A (p.Gly34961Glu)
c.100280G>A (p.Gly33427Glu)
c.100277G>A (p.Gly33426Glu)
c.97319G>A (p.Gly32440Glu)
c.78935G>A (p.Gly26312Glu)
c.100430G>A (p.Gly33477Glu)
c.100427G>A (p.Gly33476Glu)
c.99860G>A (p.Gly33287Glu)
c.97202G>A (p.Gly32401Glu)
c.97121G>A (p.Gly32374Glu)
c.78884G>A (p.Gly26295Glu)
c.68738G>A (p.Gly22913Glu)
2g.178530627C>ACA349407279TTN,TTN-AS1c.98284G>T (p.Gly32762Trp)
c.79369G>T (p.Gly26457Trp)
c.79168G>T (p.Gly26390Trp)
c.78793G>T (p.Gly26265Trp)
c.105988G>T (p.Gly35330Trp)
c.101065G>T (p.Gly33689Trp)
n.446+6991C>A
n.220-5105C>A
c.105085G>T (p.Gly35029Trp)
c.78979G>T (p.Gly26327Trp)
c.78838G>T (p.Gly26280Trp)
c.104881G>T (p.Gly34961Trp)
c.100279G>T (p.Gly33427Trp)
c.100276G>T (p.Gly33426Trp)
c.97318G>T (p.Gly32440Trp)
c.78934G>T (p.Gly26312Trp)
c.100429G>T (p.Gly33477Trp)
c.100426G>T (p.Gly33476Trp)
c.99859G>T (p.Gly33287Trp)
c.97201G>T (p.Gly32401Trp)
c.97120G>T (p.Gly32374Trp)
c.78883G>T (p.Gly26295Trp)
c.68737G>T (p.Gly22913Trp)
2g.178530627C>GCA349407280TTN,TTN-AS1c.98284G>C (p.Gly32762Arg)
c.79369G>C (p.Gly26457Arg)
c.79168G>C (p.Gly26390Arg)
c.78793G>C (p.Gly26265Arg)
c.105988G>C (p.Gly35330Arg)
c.101065G>C (p.Gly33689Arg)
n.446+6991C>G
n.220-5105C>G
c.105085G>C (p.Gly35029Arg)
c.78979G>C (p.Gly26327Arg)
c.78838G>C (p.Gly26280Arg)
c.104881G>C (p.Gly34961Arg)
c.100279G>C (p.Gly33427Arg)
c.100276G>C (p.Gly33426Arg)
c.97318G>C (p.Gly32440Arg)
c.78934G>C (p.Gly26312Arg)
c.100429G>C (p.Gly33477Arg)
c.100426G>C (p.Gly33476Arg)
c.99859G>C (p.Gly33287Arg)
c.97201G>C (p.Gly32401Arg)
c.97120G>C (p.Gly32374Arg)
c.78883G>C (p.Gly26295Arg)
c.68737G>C (p.Gly22913Arg)
2g.178530627C>TCA349407281TTN,TTN-AS1c.98284G>A (p.Gly32762Arg)
c.79369G>A (p.Gly26457Arg)
c.79168G>A (p.Gly26390Arg)
c.78793G>A (p.Gly26265Arg)
c.105988G>A (p.Gly35330Arg)
c.101065G>A (p.Gly33689Arg)
n.446+6991C>T
n.220-5105C>T
c.105085G>A (p.Gly35029Arg)
c.78979G>A (p.Gly26327Arg)
c.78838G>A (p.Gly26280Arg)
c.104881G>A (p.Gly34961Arg)
c.100279G>A (p.Gly33427Arg)
c.100276G>A (p.Gly33426Arg)
c.97318G>A (p.Gly32440Arg)
c.78934G>A (p.Gly26312Arg)
c.100429G>A (p.Gly33477Arg)
c.100426G>A (p.Gly33476Arg)
c.99859G>A (p.Gly33287Arg)
c.97201G>A (p.Gly32401Arg)
c.97120G>A (p.Gly32374Arg)
c.78883G>A (p.Gly26295Arg)
c.68737G>A (p.Gly22913Arg)
 COSMIC COSMIC COSMIC COSMIC
2g.178530628A>CCA349407282TTN,TTN-AS1c.98283T>G (p.Asn32761Lys)
c.79368T>G (p.Asn26456Lys)
c.79167T>G (p.Asn26389Lys)
c.78792T>G (p.Asn26264Lys)
c.105987T>G (p.Asn35329Lys)
c.101064T>G (p.Asn33688Lys)
n.446+6992A>C
n.220-5104A>C
c.105084T>G (p.Asn35028Lys)
c.78978T>G (p.Asn26326Lys)
c.78837T>G (p.Asn26279Lys)
c.104880T>G (p.Asn34960Lys)
c.100278T>G (p.Asn33426Lys)
c.100275T>G (p.Asn33425Lys)
c.97317T>G (p.Asn32439Lys)
c.78933T>G (p.Asn26311Lys)
c.100428T>G (p.Asn33476Lys)
c.100425T>G (p.Asn33475Lys)
c.99858T>G (p.Asn33286Lys)
c.97200T>G (p.Asn32400Lys)
c.97119T>G (p.Asn32373Lys)
c.78882T>G (p.Asn26294Lys)
c.68736T>G (p.Asn22912Lys)
2g.178530628A>GCA430235604TTN,TTN-AS1c.98283T>C (p.Asn32761=)
c.79368T>C (p.Asn26456=)
c.79167T>C (p.Asn26389=)
c.78792T>C (p.Asn26264=)
c.105987T>C (p.Asn35329=)
c.101064T>C (p.Asn33688=)
n.446+6992A>G
n.220-5104A>G
c.105084T>C (p.Asn35028=)
c.78978T>C (p.Asn26326=)
c.78837T>C (p.Asn26279=)
c.104880T>C (p.Asn34960=)
c.100278T>C (p.Asn33426=)
c.100275T>C (p.Asn33425=)
c.97317T>C (p.Asn32439=)
c.78933T>C (p.Asn26311=)
c.100428T>C (p.Asn33476=)
c.100425T>C (p.Asn33475=)
c.99858T>C (p.Asn33286=)
c.97200T>C (p.Asn32400=)
c.97119T>C (p.Asn32373=)
c.78882T>C (p.Asn26294=)
c.68736T>C (p.Asn22912=)
2g.178530628A>TCA349407283TTN,TTN-AS1c.98283T>A (p.Asn32761Lys)
c.79368T>A (p.Asn26456Lys)
c.79167T>A (p.Asn26389Lys)
c.78792T>A (p.Asn26264Lys)
c.105987T>A (p.Asn35329Lys)
c.101064T>A (p.Asn33688Lys)
n.446+6992A>T
n.220-5104A>T
c.105084T>A (p.Asn35028Lys)
c.78978T>A (p.Asn26326Lys)
c.78837T>A (p.Asn26279Lys)
c.104880T>A (p.Asn34960Lys)
c.100278T>A (p.Asn33426Lys)
c.100275T>A (p.Asn33425Lys)
c.97317T>A (p.Asn32439Lys)
c.78933T>A (p.Asn26311Lys)
c.100428T>A (p.Asn33476Lys)
c.100425T>A (p.Asn33475Lys)
c.99858T>A (p.Asn33286Lys)
c.97200T>A (p.Asn32400Lys)
c.97119T>A (p.Asn32373Lys)
c.78882T>A (p.Asn26294Lys)
c.68736T>A (p.Asn22912Lys)
2g.178530629T>ACA349407286TTN,TTN-AS1c.98282A>T (p.Asn32761Ile)
c.79367A>T (p.Asn26456Ile)
c.79166A>T (p.Asn26389Ile)
c.78791A>T (p.Asn26264Ile)
c.105986A>T (p.Asn35329Ile)
c.101063A>T (p.Asn33688Ile)
n.446+6993T>A
n.220-5103T>A
c.105083A>T (p.Asn35028Ile)
c.78977A>T (p.Asn26326Ile)
c.78836A>T (p.Asn26279Ile)
c.104879A>T (p.Asn34960Ile)
c.100277A>T (p.Asn33426Ile)
c.100274A>T (p.Asn33425Ile)
c.97316A>T (p.Asn32439Ile)
c.78932A>T (p.Asn26311Ile)
c.100427A>T (p.Asn33476Ile)
c.100424A>T (p.Asn33475Ile)
c.99857A>T (p.Asn33286Ile)
c.97199A>T (p.Asn32400Ile)
c.97118A>T (p.Asn32373Ile)
c.78881A>T (p.Asn26294Ile)
c.68735A>T (p.Asn22912Ile)
2g.178530629T>CCA349407284TTN,TTN-AS1c.98282A>G (p.Asn32761Ser)
c.79367A>G (p.Asn26456Ser)
c.79166A>G (p.Asn26389Ser)
c.78791A>G (p.Asn26264Ser)
c.105986A>G (p.Asn35329Ser)
c.101063A>G (p.Asn33688Ser)
n.446+6993T>C
n.220-5103T>C
c.105083A>G (p.Asn35028Ser)
c.78977A>G (p.Asn26326Ser)
c.78836A>G (p.Asn26279Ser)
c.104879A>G (p.Asn34960Ser)
c.100277A>G (p.Asn33426Ser)
c.100274A>G (p.Asn33425Ser)
c.97316A>G (p.Asn32439Ser)
c.78932A>G (p.Asn26311Ser)
c.100427A>G (p.Asn33476Ser)
c.100424A>G (p.Asn33475Ser)
c.99857A>G (p.Asn33286Ser)
c.97199A>G (p.Asn32400Ser)
c.97118A>G (p.Asn32373Ser)
c.78881A>G (p.Asn26294Ser)
c.68735A>G (p.Asn22912Ser)
2g.178530629T>GCA349407285TTN,TTN-AS1c.98282A>C (p.Asn32761Thr)
c.79367A>C (p.Asn26456Thr)
c.79166A>C (p.Asn26389Thr)
c.78791A>C (p.Asn26264Thr)
c.105986A>C (p.Asn35329Thr)
c.101063A>C (p.Asn33688Thr)
n.446+6993T>G
n.220-5103T>G
c.105083A>C (p.Asn35028Thr)
c.78977A>C (p.Asn26326Thr)
c.78836A>C (p.Asn26279Thr)
c.104879A>C (p.Asn34960Thr)
c.100277A>C (p.Asn33426Thr)
c.100274A>C (p.Asn33425Thr)
c.97316A>C (p.Asn32439Thr)
c.78932A>C (p.Asn26311Thr)
c.100427A>C (p.Asn33476Thr)
c.100424A>C (p.Asn33475Thr)
c.99857A>C (p.Asn33286Thr)
c.97199A>C (p.Asn32400Thr)
c.97118A>C (p.Asn32373Thr)
c.78881A>C (p.Asn26294Thr)
c.68735A>C (p.Asn22912Thr)
2g.178530630T>ACA349407287TTN,TTN-AS1c.98281A>T (p.Asn32761Tyr)
c.79366A>T (p.Asn26456Tyr)
c.79165A>T (p.Asn26389Tyr)
c.78790A>T (p.Asn26264Tyr)
c.105985A>T (p.Asn35329Tyr)
c.101062A>T (p.Asn33688Tyr)
n.446+6994T>A
n.220-5102T>A
c.105082A>T (p.Asn35028Tyr)
c.78976A>T (p.Asn26326Tyr)
c.78835A>T (p.Asn26279Tyr)
c.104878A>T (p.Asn34960Tyr)
c.100276A>T (p.Asn33426Tyr)
c.100273A>T (p.Asn33425Tyr)
c.97315A>T (p.Asn32439Tyr)
c.78931A>T (p.Asn26311Tyr)
c.100426A>T (p.Asn33476Tyr)
c.100423A>T (p.Asn33475Tyr)
c.99856A>T (p.Asn33286Tyr)
c.97198A>T (p.Asn32400Tyr)
c.97117A>T (p.Asn32373Tyr)
c.78880A>T (p.Asn26294Tyr)
c.68734A>T (p.Asn22912Tyr)
2g.178530630T>CCA349407288TTN,TTN-AS1c.98281A>G (p.Asn32761Asp)
c.79366A>G (p.Asn26456Asp)
c.79165A>G (p.Asn26389Asp)
c.78790A>G (p.Asn26264Asp)
c.105985A>G (p.Asn35329Asp)
c.101062A>G (p.Asn33688Asp)
n.446+6994T>C
n.220-5102T>C
c.105082A>G (p.Asn35028Asp)
c.78976A>G (p.Asn26326Asp)
c.78835A>G (p.Asn26279Asp)
c.104878A>G (p.Asn34960Asp)
c.100276A>G (p.Asn33426Asp)
c.100273A>G (p.Asn33425Asp)
c.97315A>G (p.Asn32439Asp)
c.78931A>G (p.Asn26311Asp)
c.100426A>G (p.Asn33476Asp)
c.100423A>G (p.Asn33475Asp)
c.99856A>G (p.Asn33286Asp)
c.97198A>G (p.Asn32400Asp)
c.97117A>G (p.Asn32373Asp)
c.78880A>G (p.Asn26294Asp)
c.68734A>G (p.Asn22912Asp)
2g.178530630T>GCA349407289TTN,TTN-AS1c.98281A>C (p.Asn32761His)
c.79366A>C (p.Asn26456His)
c.79165A>C (p.Asn26389His)
c.78790A>C (p.Asn26264His)
c.105985A>C (p.Asn35329His)
c.101062A>C (p.Asn33688His)
n.446+6994T>G
n.220-5102T>G
c.105082A>C (p.Asn35028His)
c.78976A>C (p.Asn26326His)
c.78835A>C (p.Asn26279His)
c.104878A>C (p.Asn34960His)
c.100276A>C (p.Asn33426His)
c.100273A>C (p.Asn33425His)
c.97315A>C (p.Asn32439His)
c.78931A>C (p.Asn26311His)
c.100426A>C (p.Asn33476His)
c.100423A>C (p.Asn33475His)
c.99856A>C (p.Asn33286His)
c.97198A>C (p.Asn32400His)
c.97117A>C (p.Asn32373His)
c.78880A>C (p.Asn26294His)
c.68734A>C (p.Asn22912His)
2g.178530631T>ACA349407290TTN,TTN-AS1c.98280A>T (p.Glu32760Asp)
c.79365A>T (p.Glu26455Asp)
c.79164A>T (p.Glu26388Asp)
c.78789A>T (p.Glu26263Asp)
c.105984A>T (p.Glu35328Asp)
c.101061A>T (p.Glu33687Asp)
n.446+6995T>A
n.220-5101T>A
c.105081A>T (p.Glu35027Asp)
c.78975A>T (p.Glu26325Asp)
c.78834A>T (p.Glu26278Asp)
c.104877A>T (p.Glu34959Asp)
c.100275A>T (p.Glu33425Asp)
c.100272A>T (p.Glu33424Asp)
c.97314A>T (p.Glu32438Asp)
c.78930A>T (p.Glu26310Asp)
c.100425A>T (p.Glu33475Asp)
c.100422A>T (p.Glu33474Asp)
c.99855A>T (p.Glu33285Asp)
c.97197A>T (p.Glu32399Asp)
c.97116A>T (p.Glu32372Asp)
c.78879A>T (p.Glu26293Asp)
c.68733A>T (p.Glu22911Asp)
2g.178530631T>CCA430235614TTN,TTN-AS1c.98280A>G (p.Glu32760=)
c.79365A>G (p.Glu26455=)
c.79164A>G (p.Glu26388=)
c.78789A>G (p.Glu26263=)
c.105984A>G (p.Glu35328=)
c.101061A>G (p.Glu33687=)
n.446+6995T>C
n.220-5101T>C
c.105081A>G (p.Glu35027=)
c.78975A>G (p.Glu26325=)
c.78834A>G (p.Glu26278=)
c.104877A>G (p.Glu34959=)
c.100275A>G (p.Glu33425=)
c.100272A>G (p.Glu33424=)
c.97314A>G (p.Glu32438=)
c.78930A>G (p.Glu26310=)
c.100425A>G (p.Glu33475=)
c.100422A>G (p.Glu33474=)
c.99855A>G (p.Glu33285=)
c.97197A>G (p.Glu32399=)
c.97116A>G (p.Glu32372=)
c.78879A>G (p.Glu26293=)
c.68733A>G (p.Glu22911=)
2g.178530631T>GCA349407291TTN,TTN-AS1c.98280A>C (p.Glu32760Asp)
c.79365A>C (p.Glu26455Asp)
c.79164A>C (p.Glu26388Asp)
c.78789A>C (p.Glu26263Asp)
c.105984A>C (p.Glu35328Asp)
c.101061A>C (p.Glu33687Asp)
n.446+6995T>G
n.220-5101T>G
c.105081A>C (p.Glu35027Asp)
c.78975A>C (p.Glu26325Asp)
c.78834A>C (p.Glu26278Asp)
c.104877A>C (p.Glu34959Asp)
c.100275A>C (p.Glu33425Asp)
c.100272A>C (p.Glu33424Asp)
c.97314A>C (p.Glu32438Asp)
c.78930A>C (p.Glu26310Asp)
c.100425A>C (p.Glu33475Asp)
c.100422A>C (p.Glu33474Asp)
c.99855A>C (p.Glu33285Asp)
c.97197A>C (p.Glu32399Asp)
c.97116A>C (p.Glu32372Asp)
c.78879A>C (p.Glu26293Asp)
c.68733A>C (p.Glu22911Asp)
2g.178530632T>ACA349407292TTN,TTN-AS1c.98279A>T (p.Glu32760Val)
c.79364A>T (p.Glu26455Val)
c.79163A>T (p.Glu26388Val)
c.78788A>T (p.Glu26263Val)
c.105983A>T (p.Glu35328Val)
c.101060A>T (p.Glu33687Val)
n.446+6996T>A
n.220-5100T>A
c.105080A>T (p.Glu35027Val)
c.78974A>T (p.Glu26325Val)
c.78833A>T (p.Glu26278Val)
c.104876A>T (p.Glu34959Val)
c.100274A>T (p.Glu33425Val)
c.100271A>T (p.Glu33424Val)
c.97313A>T (p.Glu32438Val)
c.78929A>T (p.Glu26310Val)
c.100424A>T (p.Glu33475Val)
c.100421A>T (p.Glu33474Val)
c.99854A>T (p.Glu33285Val)
c.97196A>T (p.Glu32399Val)
c.97115A>T (p.Glu32372Val)
c.78878A>T (p.Glu26293Val)
c.68732A>T (p.Glu22911Val)
2g.178530632T>CCA349407293TTN,TTN-AS1c.98279A>G (p.Glu32760Gly)
c.79364A>G (p.Glu26455Gly)
c.79163A>G (p.Glu26388Gly)
c.78788A>G (p.Glu26263Gly)
c.105983A>G (p.Glu35328Gly)
c.101060A>G (p.Glu33687Gly)
n.446+6996T>C
n.220-5100T>C
c.105080A>G (p.Glu35027Gly)
c.78974A>G (p.Glu26325Gly)
c.78833A>G (p.Glu26278Gly)
c.104876A>G (p.Glu34959Gly)
c.100274A>G (p.Glu33425Gly)
c.100271A>G (p.Glu33424Gly)
c.97313A>G (p.Glu32438Gly)
c.78929A>G (p.Glu26310Gly)
c.100424A>G (p.Glu33475Gly)
c.100421A>G (p.Glu33474Gly)
c.99854A>G (p.Glu33285Gly)
c.97196A>G (p.Glu32399Gly)
c.97115A>G (p.Glu32372Gly)
c.78878A>G (p.Glu26293Gly)
c.68732A>G (p.Glu22911Gly)
2g.178530632T>GCA349407294TTN,TTN-AS1c.98279A>C (p.Glu32760Ala)
c.79364A>C (p.Glu26455Ala)
c.79163A>C (p.Glu26388Ala)
c.78788A>C (p.Glu26263Ala)
c.105983A>C (p.Glu35328Ala)
c.101060A>C (p.Glu33687Ala)
n.446+6996T>G
n.220-5100T>G
c.105080A>C (p.Glu35027Ala)
c.78974A>C (p.Glu26325Ala)
c.78833A>C (p.Glu26278Ala)
c.104876A>C (p.Glu34959Ala)
c.100274A>C (p.Glu33425Ala)
c.100271A>C (p.Glu33424Ala)
c.97313A>C (p.Glu32438Ala)
c.78929A>C (p.Glu26310Ala)
c.100424A>C (p.Glu33475Ala)
c.100421A>C (p.Glu33474Ala)
c.99854A>C (p.Glu33285Ala)
c.97196A>C (p.Glu32399Ala)
c.97115A>C (p.Glu32372Ala)
c.78878A>C (p.Glu26293Ala)
c.68732A>C (p.Glu22911Ala)
2g.178530633C>ACA349407295TTN,TTN-AS1c.98278G>T (p.Glu32760Ter)
c.79363G>T (p.Glu26455Ter)
c.79162G>T (p.Glu26388Ter)
c.78787G>T (p.Glu26263Ter)
c.105982G>T (p.Glu35328Ter)
c.101059G>T (p.Glu33687Ter)
n.446+6997C>A
n.220-5099C>A
c.105079G>T (p.Glu35027Ter)
c.78973G>T (p.Glu26325Ter)
c.78832G>T (p.Glu26278Ter)
c.104875G>T (p.Glu34959Ter)
c.100273G>T (p.Glu33425Ter)
c.100270G>T (p.Glu33424Ter)
c.97312G>T (p.Glu32438Ter)
c.78928G>T (p.Glu26310Ter)
c.100423G>T (p.Glu33475Ter)
c.100420G>T (p.Glu33474Ter)
c.99853G>T (p.Glu33285Ter)
c.97195G>T (p.Glu32399Ter)
c.97114G>T (p.Glu32372Ter)
c.78877G>T (p.Glu26293Ter)
c.68731G>T (p.Glu22911Ter)
2g.178530633C>GCA349407296TTN,TTN-AS1c.98278G>C (p.Glu32760Gln)
c.79363G>C (p.Glu26455Gln)
c.79162G>C (p.Glu26388Gln)
c.78787G>C (p.Glu26263Gln)
c.105982G>C (p.Glu35328Gln)
c.101059G>C (p.Glu33687Gln)
n.446+6997C>G
n.220-5099C>G
c.105079G>C (p.Glu35027Gln)
c.78973G>C (p.Glu26325Gln)
c.78832G>C (p.Glu26278Gln)
c.104875G>C (p.Glu34959Gln)
c.100273G>C (p.Glu33425Gln)
c.100270G>C (p.Glu33424Gln)
c.97312G>C (p.Glu32438Gln)
c.78928G>C (p.Glu26310Gln)
c.100423G>C (p.Glu33475Gln)
c.100420G>C (p.Glu33474Gln)
c.99853G>C (p.Glu33285Gln)
c.97195G>C (p.Glu32399Gln)
c.97114G>C (p.Glu32372Gln)
c.78877G>C (p.Glu26293Gln)
c.68731G>C (p.Glu22911Gln)
2g.178530633C>TCA349407297TTN,TTN-AS1c.98278G>A (p.Glu32760Lys)
c.79363G>A (p.Glu26455Lys)
c.79162G>A (p.Glu26388Lys)
c.78787G>A (p.Glu26263Lys)
c.105982G>A (p.Glu35328Lys)
c.101059G>A (p.Glu33687Lys)
n.446+6997C>T
n.220-5099C>T
c.105079G>A (p.Glu35027Lys)
c.78973G>A (p.Glu26325Lys)
c.78832G>A (p.Glu26278Lys)
c.104875G>A (p.Glu34959Lys)
c.100273G>A (p.Glu33425Lys)
c.100270G>A (p.Glu33424Lys)
c.97312G>A (p.Glu32438Lys)
c.78928G>A (p.Glu26310Lys)
c.100423G>A (p.Glu33475Lys)
c.100420G>A (p.Glu33474Lys)
c.99853G>A (p.Glu33285Lys)
c.97195G>A (p.Glu32399Lys)
c.97114G>A (p.Glu32372Lys)
c.78877G>A (p.Glu26293Lys)
c.68731G>A (p.Glu22911Lys)
 COSMIC COSMIC COSMIC COSMIC
2g.178530634C>ACA349407298TTN,TTN-AS1c.98277G>T (p.Lys32759Asn)
c.79362G>T (p.Lys26454Asn)
c.79161G>T (p.Lys26387Asn)
c.78786G>T (p.Lys26262Asn)
c.105981G>T (p.Lys35327Asn)
c.101058G>T (p.Lys33686Asn)
n.446+6998C>A
n.220-5098C>A
c.105078G>T (p.Lys35026Asn)
c.78972G>T (p.Lys26324Asn)
c.78831G>T (p.Lys26277Asn)
c.104874G>T (p.Lys34958Asn)
c.100272G>T (p.Lys33424Asn)
c.100269G>T (p.Lys33423Asn)
c.97311G>T (p.Lys32437Asn)
c.78927G>T (p.Lys26309Asn)
c.100422G>T (p.Lys33474Asn)
c.100419G>T (p.Lys33473Asn)
c.99852G>T (p.Lys33284Asn)
c.97194G>T (p.Lys32398Asn)
c.97113G>T (p.Lys32371Asn)
c.78876G>T (p.Lys26292Asn)
c.68730G>T (p.Lys22910Asn)
2g.178530634C=CA1310514823TTN,TTN-AS1c.98277G= (p.Lys32759=)
c.79362G= (p.Lys26454=)
c.79161G= (p.Lys26387=)
c.78786G= (p.Lys26262=)
c.105981G= (p.Lys35327=)
c.101058G= (p.Lys33686=)
n.446+6998C=
n.220-5098C=
c.105078G= (p.Lys35026=)
c.78972G= (p.Lys26324=)
c.78831G= (p.Lys26277=)
c.104874G= (p.Lys34958=)
c.100272G= (p.Lys33424=)
c.100269G= (p.Lys33423=)
c.97311G= (p.Lys32437=)
c.78927G= (p.Lys26309=)
c.100422G= (p.Lys33474=)
c.100419G= (p.Lys33473=)
c.99852G= (p.Lys33284=)
c.97194G= (p.Lys32398=)
c.97113G= (p.Lys32371=)
c.78876G= (p.Lys26292=)
c.68730G= (p.Lys22910=)
2g.178530634C>GCA349407299TTN,TTN-AS1c.98277G>C (p.Lys32759Asn)
c.79362G>C (p.Lys26454Asn)
c.79161G>C (p.Lys26387Asn)
c.78786G>C (p.Lys26262Asn)
c.105981G>C (p.Lys35327Asn)
c.101058G>C (p.Lys33686Asn)
n.446+6998C>G
n.220-5098C>G
c.105078G>C (p.Lys35026Asn)
c.78972G>C (p.Lys26324Asn)
c.78831G>C (p.Lys26277Asn)
c.104874G>C (p.Lys34958Asn)
c.100272G>C (p.Lys33424Asn)
c.100269G>C (p.Lys33423Asn)
c.97311G>C (p.Lys32437Asn)
c.78927G>C (p.Lys26309Asn)
c.100422G>C (p.Lys33474Asn)
c.100419G>C (p.Lys33473Asn)
c.99852G>C (p.Lys33284Asn)
c.97194G>C (p.Lys32398Asn)
c.97113G>C (p.Lys32371Asn)
c.78876G>C (p.Lys26292Asn)
c.68730G>C (p.Lys22910Asn)
2g.178530634C>TCA430235624TTN,TTN-AS1c.98277G>A (p.Lys32759=)
c.79362G>A (p.Lys26454=)
c.79161G>A (p.Lys26387=)
c.78786G>A (p.Lys26262=)
c.105981G>A (p.Lys35327=)
c.101058G>A (p.Lys33686=)
n.446+6998C>T
n.220-5098C>T
c.105078G>A (p.Lys35026=)
c.78972G>A (p.Lys26324=)
c.78831G>A (p.Lys26277=)
c.104874G>A (p.Lys34958=)
c.100272G>A (p.Lys33424=)
c.100269G>A (p.Lys33423=)
c.97311G>A (p.Lys32437=)
c.78927G>A (p.Lys26309=)
c.100422G>A (p.Lys33474=)
c.100419G>A (p.Lys33473=)
c.99852G>A (p.Lys33284=)
c.97194G>A (p.Lys32398=)
c.97113G>A (p.Lys32371=)
c.78876G>A (p.Lys26292=)
c.68730G>A (p.Lys22910=)
 ClinVar dbSNP

Number of alleles fetched