Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178547631T>ACA1987216TTN,TTN-AS1c.86291A>T (p.Glu28764Val)
c.67376A>T (p.Glu22459Val)
c.67175A>T (p.Glu22392Val)
c.66800A>T (p.Glu22267Val)
c.93995A>T (p.Glu31332Val)
c.89072A>T (p.Glu29691Val)
n.447-23669T>A
n.2043+5270T>A
c.93092A>T (p.Glu31031Val)
c.66986A>T (p.Glu22329Val)
c.66845A>T (p.Glu22282Val)
c.92888A>T (p.Glu30963Val)
c.88286A>T (p.Glu29429Val)
c.88283A>T (p.Glu29428Val)
c.85325A>T (p.Glu28442Val)
c.66941A>T (p.Glu22314Val)
c.88436A>T (p.Glu29479Val)
c.88433A>T (p.Glu29478Val)
c.87866A>T (p.Glu29289Val)
c.85208A>T (p.Glu28403Val)
c.85127A>T (p.Glu28376Val)
c.66890A>T (p.Glu22297Val)
c.56744A>T (p.Glu18915Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178547631T>CCA349478871TTN,TTN-AS1c.86291A>G (p.Glu28764Gly)
c.67376A>G (p.Glu22459Gly)
c.67175A>G (p.Glu22392Gly)
c.66800A>G (p.Glu22267Gly)
c.93995A>G (p.Glu31332Gly)
c.89072A>G (p.Glu29691Gly)
n.447-23669T>C
n.2043+5270T>C
c.93092A>G (p.Glu31031Gly)
c.66986A>G (p.Glu22329Gly)
c.66845A>G (p.Glu22282Gly)
c.92888A>G (p.Glu30963Gly)
c.88286A>G (p.Glu29429Gly)
c.88283A>G (p.Glu29428Gly)
c.85325A>G (p.Glu28442Gly)
c.66941A>G (p.Glu22314Gly)
c.88436A>G (p.Glu29479Gly)
c.88433A>G (p.Glu29478Gly)
c.87866A>G (p.Glu29289Gly)
c.85208A>G (p.Glu28403Gly)
c.85127A>G (p.Glu28376Gly)
c.66890A>G (p.Glu22297Gly)
c.56744A>G (p.Glu18915Gly)
2g.178547631T>GCA349478855TTN,TTN-AS1c.86291A>C (p.Glu28764Ala)
c.67376A>C (p.Glu22459Ala)
c.67175A>C (p.Glu22392Ala)
c.66800A>C (p.Glu22267Ala)
c.93995A>C (p.Glu31332Ala)
c.89072A>C (p.Glu29691Ala)
n.447-23669T>G
n.2043+5270T>G
c.93092A>C (p.Glu31031Ala)
c.66986A>C (p.Glu22329Ala)
c.66845A>C (p.Glu22282Ala)
c.92888A>C (p.Glu30963Ala)
c.88286A>C (p.Glu29429Ala)
c.88283A>C (p.Glu29428Ala)
c.85325A>C (p.Glu28442Ala)
c.66941A>C (p.Glu22314Ala)
c.88436A>C (p.Glu29479Ala)
c.88433A>C (p.Glu29478Ala)
c.87866A>C (p.Glu29289Ala)
c.85208A>C (p.Glu28403Ala)
c.85127A>C (p.Glu28376Ala)
c.66890A>C (p.Glu22297Ala)
c.56744A>C (p.Glu18915Ala)
2g.178547631T=CA1310524128TTN,TTN-AS1c.86291A= (p.Glu28764=)
c.67376A= (p.Glu22459=)
c.67175A= (p.Glu22392=)
c.66800A= (p.Glu22267=)
c.93995A= (p.Glu31332=)
c.89072A= (p.Glu29691=)
n.447-23669T=
n.2043+5270T=
c.93092A= (p.Glu31031=)
c.66986A= (p.Glu22329=)
c.66845A= (p.Glu22282=)
c.92888A= (p.Glu30963=)
c.88286A= (p.Glu29429=)
c.88283A= (p.Glu29428=)
c.85325A= (p.Glu28442=)
c.66941A= (p.Glu22314=)
c.88436A= (p.Glu29479=)
c.88433A= (p.Glu29478=)
c.87866A= (p.Glu29289=)
c.85208A= (p.Glu28403=)
c.85127A= (p.Glu28376=)
c.66890A= (p.Glu22297=)
c.56744A= (p.Glu18915=)
2g.178547632C>ACA349478886TTN,TTN-AS1c.86290G>T (p.Glu28764Ter)
c.67375G>T (p.Glu22459Ter)
c.67174G>T (p.Glu22392Ter)
c.66799G>T (p.Glu22267Ter)
c.93994G>T (p.Glu31332Ter)
c.89071G>T (p.Glu29691Ter)
n.447-23668C>A
n.2043+5271C>A
c.93091G>T (p.Glu31031Ter)
c.66985G>T (p.Glu22329Ter)
c.66844G>T (p.Glu22282Ter)
c.92887G>T (p.Glu30963Ter)
c.88285G>T (p.Glu29429Ter)
c.88282G>T (p.Glu29428Ter)
c.85324G>T (p.Glu28442Ter)
c.66940G>T (p.Glu22314Ter)
c.88435G>T (p.Glu29479Ter)
c.88432G>T (p.Glu29478Ter)
c.87865G>T (p.Glu29289Ter)
c.85207G>T (p.Glu28403Ter)
c.85126G>T (p.Glu28376Ter)
c.66889G>T (p.Glu22297Ter)
c.56743G>T (p.Glu18915Ter)
2g.178547632C>GCA349478891TTN,TTN-AS1c.86290G>C (p.Glu28764Gln)
c.67375G>C (p.Glu22459Gln)
c.67174G>C (p.Glu22392Gln)
c.66799G>C (p.Glu22267Gln)
c.93994G>C (p.Glu31332Gln)
c.89071G>C (p.Glu29691Gln)
n.447-23668C>G
n.2043+5271C>G
c.93091G>C (p.Glu31031Gln)
c.66985G>C (p.Glu22329Gln)
c.66844G>C (p.Glu22282Gln)
c.92887G>C (p.Glu30963Gln)
c.88285G>C (p.Glu29429Gln)
c.88282G>C (p.Glu29428Gln)
c.85324G>C (p.Glu28442Gln)
c.66940G>C (p.Glu22314Gln)
c.88435G>C (p.Glu29479Gln)
c.88432G>C (p.Glu29478Gln)
c.87865G>C (p.Glu29289Gln)
c.85207G>C (p.Glu28403Gln)
c.85126G>C (p.Glu28376Gln)
c.66889G>C (p.Glu22297Gln)
c.56743G>C (p.Glu18915Gln)
2g.178547632C>TCA349478892TTN,TTN-AS1c.86290G>A (p.Glu28764Lys)
c.67375G>A (p.Glu22459Lys)
c.67174G>A (p.Glu22392Lys)
c.66799G>A (p.Glu22267Lys)
c.93994G>A (p.Glu31332Lys)
c.89071G>A (p.Glu29691Lys)
n.447-23668C>T
n.2043+5271C>T
c.93091G>A (p.Glu31031Lys)
c.66985G>A (p.Glu22329Lys)
c.66844G>A (p.Glu22282Lys)
c.92887G>A (p.Glu30963Lys)
c.88285G>A (p.Glu29429Lys)
c.88282G>A (p.Glu29428Lys)
c.85324G>A (p.Glu28442Lys)
c.66940G>A (p.Glu22314Lys)
c.88435G>A (p.Glu29479Lys)
c.88432G>A (p.Glu29478Lys)
c.87865G>A (p.Glu29289Lys)
c.85207G>A (p.Glu28403Lys)
c.85126G>A (p.Glu28376Lys)
c.66889G>A (p.Glu22297Lys)
c.56743G>A (p.Glu18915Lys)
2g.178547633T>ACA430242704TTN,TTN-AS1c.86289A>T (p.Gly28763=)
c.67374A>T (p.Gly22458=)
c.67173A>T (p.Gly22391=)
c.66798A>T (p.Gly22266=)
c.93993A>T (p.Gly31331=)
c.89070A>T (p.Gly29690=)
n.447-23667T>A
n.2043+5272T>A
c.93090A>T (p.Gly31030=)
c.66984A>T (p.Gly22328=)
c.66843A>T (p.Gly22281=)
c.92886A>T (p.Gly30962=)
c.88284A>T (p.Gly29428=)
c.88281A>T (p.Gly29427=)
c.85323A>T (p.Gly28441=)
c.66939A>T (p.Gly22313=)
c.88434A>T (p.Gly29478=)
c.88431A>T (p.Gly29477=)
c.87864A>T (p.Gly29288=)
c.85206A>T (p.Gly28402=)
c.85125A>T (p.Gly28375=)
c.66888A>T (p.Gly22296=)
c.56742A>T (p.Gly18914=)
2g.178547633T>CCA430242705TTN,TTN-AS1c.86289A>G (p.Gly28763=)
c.67374A>G (p.Gly22458=)
c.67173A>G (p.Gly22391=)
c.66798A>G (p.Gly22266=)
c.93993A>G (p.Gly31331=)
c.89070A>G (p.Gly29690=)
n.447-23667T>C
n.2043+5272T>C
c.93090A>G (p.Gly31030=)
c.66984A>G (p.Gly22328=)
c.66843A>G (p.Gly22281=)
c.92886A>G (p.Gly30962=)
c.88284A>G (p.Gly29428=)
c.88281A>G (p.Gly29427=)
c.85323A>G (p.Gly28441=)
c.66939A>G (p.Gly22313=)
c.88434A>G (p.Gly29478=)
c.88431A>G (p.Gly29477=)
c.87864A>G (p.Gly29288=)
c.85206A>G (p.Gly28402=)
c.85125A>G (p.Gly28375=)
c.66888A>G (p.Gly22296=)
c.56742A>G (p.Gly18914=)
 gnomAD v4
2g.178547633T>GCA430242706TTN,TTN-AS1c.86289A>C (p.Gly28763=)
c.67374A>C (p.Gly22458=)
c.67173A>C (p.Gly22391=)
c.66798A>C (p.Gly22266=)
c.93993A>C (p.Gly31331=)
c.89070A>C (p.Gly29690=)
n.447-23667T>G
n.2043+5272T>G
c.93090A>C (p.Gly31030=)
c.66984A>C (p.Gly22328=)
c.66843A>C (p.Gly22281=)
c.92886A>C (p.Gly30962=)
c.88284A>C (p.Gly29428=)
c.88281A>C (p.Gly29427=)
c.85323A>C (p.Gly28441=)
c.66939A>C (p.Gly22313=)
c.88434A>C (p.Gly29478=)
c.88431A>C (p.Gly29477=)
c.87864A>C (p.Gly29288=)
c.85206A>C (p.Gly28402=)
c.85125A>C (p.Gly28375=)
c.66888A>C (p.Gly22296=)
c.56742A>C (p.Gly18914=)
2g.178547634C>ACA349478896TTN,TTN-AS1c.86288G>T (p.Gly28763Val)
c.67373G>T (p.Gly22458Val)
c.67172G>T (p.Gly22391Val)
c.66797G>T (p.Gly22266Val)
c.93992G>T (p.Gly31331Val)
c.89069G>T (p.Gly29690Val)
n.447-23666C>A
n.2043+5273C>A
c.93089G>T (p.Gly31030Val)
c.66983G>T (p.Gly22328Val)
c.66842G>T (p.Gly22281Val)
c.92885G>T (p.Gly30962Val)
c.88283G>T (p.Gly29428Val)
c.88280G>T (p.Gly29427Val)
c.85322G>T (p.Gly28441Val)
c.66938G>T (p.Gly22313Val)
c.88433G>T (p.Gly29478Val)
c.88430G>T (p.Gly29477Val)
c.87863G>T (p.Gly29288Val)
c.85205G>T (p.Gly28402Val)
c.85124G>T (p.Gly28375Val)
c.66887G>T (p.Gly22296Val)
c.56741G>T (p.Gly18914Val)
2g.178547634C>GCA349478901TTN,TTN-AS1c.86288G>C (p.Gly28763Ala)
c.67373G>C (p.Gly22458Ala)
c.67172G>C (p.Gly22391Ala)
c.66797G>C (p.Gly22266Ala)
c.93992G>C (p.Gly31331Ala)
c.89069G>C (p.Gly29690Ala)
n.447-23666C>G
n.2043+5273C>G
c.93089G>C (p.Gly31030Ala)
c.66983G>C (p.Gly22328Ala)
c.66842G>C (p.Gly22281Ala)
c.92885G>C (p.Gly30962Ala)
c.88283G>C (p.Gly29428Ala)
c.88280G>C (p.Gly29427Ala)
c.85322G>C (p.Gly28441Ala)
c.66938G>C (p.Gly22313Ala)
c.88433G>C (p.Gly29478Ala)
c.88430G>C (p.Gly29477Ala)
c.87863G>C (p.Gly29288Ala)
c.85205G>C (p.Gly28402Ala)
c.85124G>C (p.Gly28375Ala)
c.66887G>C (p.Gly22296Ala)
c.56741G>C (p.Gly18914Ala)
2g.178547634C>TCA349478905TTN,TTN-AS1c.86288G>A (p.Gly28763Glu)
c.67373G>A (p.Gly22458Glu)
c.67172G>A (p.Gly22391Glu)
c.66797G>A (p.Gly22266Glu)
c.93992G>A (p.Gly31331Glu)
c.89069G>A (p.Gly29690Glu)
n.447-23666C>T
n.2043+5273C>T
c.93089G>A (p.Gly31030Glu)
c.66983G>A (p.Gly22328Glu)
c.66842G>A (p.Gly22281Glu)
c.92885G>A (p.Gly30962Glu)
c.88283G>A (p.Gly29428Glu)
c.88280G>A (p.Gly29427Glu)
c.85322G>A (p.Gly28441Glu)
c.66938G>A (p.Gly22313Glu)
c.88433G>A (p.Gly29478Glu)
c.88430G>A (p.Gly29477Glu)
c.87863G>A (p.Gly29288Glu)
c.85205G>A (p.Gly28402Glu)
c.85124G>A (p.Gly28375Glu)
c.66887G>A (p.Gly22296Glu)
c.56741G>A (p.Gly18914Glu)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178547635C>ACA349478908TTN,TTN-AS1c.86287G>T (p.Gly28763Ter)
c.67372G>T (p.Gly22458Ter)
c.67171G>T (p.Gly22391Ter)
c.66796G>T (p.Gly22266Ter)
c.93991G>T (p.Gly31331Ter)
c.89068G>T (p.Gly29690Ter)
n.447-23665C>A
n.2043+5274C>A
c.93088G>T (p.Gly31030Ter)
c.66982G>T (p.Gly22328Ter)
c.66841G>T (p.Gly22281Ter)
c.92884G>T (p.Gly30962Ter)
c.88282G>T (p.Gly29428Ter)
c.88279G>T (p.Gly29427Ter)
c.85321G>T (p.Gly28441Ter)
c.66937G>T (p.Gly22313Ter)
c.88432G>T (p.Gly29478Ter)
c.88429G>T (p.Gly29477Ter)
c.87862G>T (p.Gly29288Ter)
c.85204G>T (p.Gly28402Ter)
c.85123G>T (p.Gly28375Ter)
c.66886G>T (p.Gly22296Ter)
c.56740G>T (p.Gly18914Ter)
2g.178547635C=CA1310524130TTN,TTN-AS1c.86287G= (p.Gly28763=)
c.67372G= (p.Gly22458=)
c.67171G= (p.Gly22391=)
c.66796G= (p.Gly22266=)
c.93991G= (p.Gly31331=)
c.89068G= (p.Gly29690=)
n.447-23665C=
n.2043+5274C=
c.93088G= (p.Gly31030=)
c.66982G= (p.Gly22328=)
c.66841G= (p.Gly22281=)
c.92884G= (p.Gly30962=)
c.88282G= (p.Gly29428=)
c.88279G= (p.Gly29427=)
c.85321G= (p.Gly28441=)
c.66937G= (p.Gly22313=)
c.88432G= (p.Gly29478=)
c.88429G= (p.Gly29477=)
c.87862G= (p.Gly29288=)
c.85204G= (p.Gly28402=)
c.85123G= (p.Gly28375=)
c.66886G= (p.Gly22296=)
c.56740G= (p.Gly18914=)
2g.178547635C>GCA349478910TTN,TTN-AS1c.86287G>C (p.Gly28763Arg)
c.67372G>C (p.Gly22458Arg)
c.67171G>C (p.Gly22391Arg)
c.66796G>C (p.Gly22266Arg)
c.93991G>C (p.Gly31331Arg)
c.89068G>C (p.Gly29690Arg)
n.447-23665C>G
n.2043+5274C>G
c.93088G>C (p.Gly31030Arg)
c.66982G>C (p.Gly22328Arg)
c.66841G>C (p.Gly22281Arg)
c.92884G>C (p.Gly30962Arg)
c.88282G>C (p.Gly29428Arg)
c.88279G>C (p.Gly29427Arg)
c.85321G>C (p.Gly28441Arg)
c.66937G>C (p.Gly22313Arg)
c.88432G>C (p.Gly29478Arg)
c.88429G>C (p.Gly29477Arg)
c.87862G>C (p.Gly29288Arg)
c.85204G>C (p.Gly28402Arg)
c.85123G>C (p.Gly28375Arg)
c.66886G>C (p.Gly22296Arg)
c.56740G>C (p.Gly18914Arg)
2g.178547635C>TCA1987217TTN,TTN-AS1c.86287G>A (p.Gly28763Arg)
c.67372G>A (p.Gly22458Arg)
c.67171G>A (p.Gly22391Arg)
c.66796G>A (p.Gly22266Arg)
c.93991G>A (p.Gly31331Arg)
c.89068G>A (p.Gly29690Arg)
n.447-23665C>T
n.2043+5274C>T
c.93088G>A (p.Gly31030Arg)
c.66982G>A (p.Gly22328Arg)
c.66841G>A (p.Gly22281Arg)
c.92884G>A (p.Gly30962Arg)
c.88282G>A (p.Gly29428Arg)
c.88279G>A (p.Gly29427Arg)
c.85321G>A (p.Gly28441Arg)
c.66937G>A (p.Gly22313Arg)
c.88432G>A (p.Gly29478Arg)
c.88429G>A (p.Gly29477Arg)
c.87862G>A (p.Gly29288Arg)
c.85204G>A (p.Gly28402Arg)
c.85123G>A (p.Gly28375Arg)
c.66886G>A (p.Gly22296Arg)
c.56740G>A (p.Gly18914Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178547636C>ACA349478917TTN,TTN-AS1c.86286G>T (p.Trp28762Cys)
c.67371G>T (p.Trp22457Cys)
c.67170G>T (p.Trp22390Cys)
c.66795G>T (p.Trp22265Cys)
c.93990G>T (p.Trp31330Cys)
c.89067G>T (p.Trp29689Cys)
n.447-23664C>A
n.2043+5275C>A
c.93087G>T (p.Trp31029Cys)
c.66981G>T (p.Trp22327Cys)
c.66840G>T (p.Trp22280Cys)
c.92883G>T (p.Trp30961Cys)
c.88281G>T (p.Trp29427Cys)
c.88278G>T (p.Trp29426Cys)
c.85320G>T (p.Trp28440Cys)
c.66936G>T (p.Trp22312Cys)
c.88431G>T (p.Trp29477Cys)
c.88428G>T (p.Trp29476Cys)
c.87861G>T (p.Trp29287Cys)
c.85203G>T (p.Trp28401Cys)
c.85122G>T (p.Trp28374Cys)
c.66885G>T (p.Trp22295Cys)
c.56739G>T (p.Trp18913Cys)
2g.178547636C>GCA349478918TTN,TTN-AS1c.86286G>C (p.Trp28762Cys)
c.67371G>C (p.Trp22457Cys)
c.67170G>C (p.Trp22390Cys)
c.66795G>C (p.Trp22265Cys)
c.93990G>C (p.Trp31330Cys)
c.89067G>C (p.Trp29689Cys)
n.447-23664C>G
n.2043+5275C>G
c.93087G>C (p.Trp31029Cys)
c.66981G>C (p.Trp22327Cys)
c.66840G>C (p.Trp22280Cys)
c.92883G>C (p.Trp30961Cys)
c.88281G>C (p.Trp29427Cys)
c.88278G>C (p.Trp29426Cys)
c.85320G>C (p.Trp28440Cys)
c.66936G>C (p.Trp22312Cys)
c.88431G>C (p.Trp29477Cys)
c.88428G>C (p.Trp29476Cys)
c.87861G>C (p.Trp29287Cys)
c.85203G>C (p.Trp28401Cys)
c.85122G>C (p.Trp28374Cys)
c.66885G>C (p.Trp22295Cys)
c.56739G>C (p.Trp18913Cys)
2g.178547636C>TCA349478920TTN,TTN-AS1c.86286G>A (p.Trp28762Ter)
c.67371G>A (p.Trp22457Ter)
c.67170G>A (p.Trp22390Ter)
c.66795G>A (p.Trp22265Ter)
c.93990G>A (p.Trp31330Ter)
c.89067G>A (p.Trp29689Ter)
n.447-23664C>T
n.2043+5275C>T
c.93087G>A (p.Trp31029Ter)
c.66981G>A (p.Trp22327Ter)
c.66840G>A (p.Trp22280Ter)
c.92883G>A (p.Trp30961Ter)
c.88281G>A (p.Trp29427Ter)
c.88278G>A (p.Trp29426Ter)
c.85320G>A (p.Trp28440Ter)
c.66936G>A (p.Trp22312Ter)
c.88431G>A (p.Trp29477Ter)
c.88428G>A (p.Trp29476Ter)
c.87861G>A (p.Trp29287Ter)
c.85203G>A (p.Trp28401Ter)
c.85122G>A (p.Trp28374Ter)
c.66885G>A (p.Trp22295Ter)
c.56739G>A (p.Trp18913Ter)
 gnomAD v4
2g.178547637C>ACA349478926TTN,TTN-AS1c.86285G>T (p.Trp28762Leu)
c.67370G>T (p.Trp22457Leu)
c.67169G>T (p.Trp22390Leu)
c.66794G>T (p.Trp22265Leu)
c.93989G>T (p.Trp31330Leu)
c.89066G>T (p.Trp29689Leu)
n.447-23663C>A
n.2043+5276C>A
c.93086G>T (p.Trp31029Leu)
c.66980G>T (p.Trp22327Leu)
c.66839G>T (p.Trp22280Leu)
c.92882G>T (p.Trp30961Leu)
c.88280G>T (p.Trp29427Leu)
c.88277G>T (p.Trp29426Leu)
c.85319G>T (p.Trp28440Leu)
c.66935G>T (p.Trp22312Leu)
c.88430G>T (p.Trp29477Leu)
c.88427G>T (p.Trp29476Leu)
c.87860G>T (p.Trp29287Leu)
c.85202G>T (p.Trp28401Leu)
c.85121G>T (p.Trp28374Leu)
c.66884G>T (p.Trp22295Leu)
c.56738G>T (p.Trp18913Leu)
2g.178547637C=CA1310524132TTN,TTN-AS1c.86285G= (p.Trp28762=)
c.67370G= (p.Trp22457=)
c.67169G= (p.Trp22390=)
c.66794G= (p.Trp22265=)
c.93989G= (p.Trp31330=)
c.89066G= (p.Trp29689=)
n.447-23663C=
n.2043+5276C=
c.93086G= (p.Trp31029=)
c.66980G= (p.Trp22327=)
c.66839G= (p.Trp22280=)
c.92882G= (p.Trp30961=)
c.88280G= (p.Trp29427=)
c.88277G= (p.Trp29426=)
c.85319G= (p.Trp28440=)
c.66935G= (p.Trp22312=)
c.88430G= (p.Trp29477=)
c.88427G= (p.Trp29476=)
c.87860G= (p.Trp29287=)
c.85202G= (p.Trp28401=)
c.85121G= (p.Trp28374=)
c.66884G= (p.Trp22295=)
c.56738G= (p.Trp18913=)
2g.178547637C>GCA60972973TTN,TTN-AS1c.86285G>C (p.Trp28762Ser)
c.67370G>C (p.Trp22457Ser)
c.67169G>C (p.Trp22390Ser)
c.66794G>C (p.Trp22265Ser)
c.93989G>C (p.Trp31330Ser)
c.89066G>C (p.Trp29689Ser)
n.447-23663C>G
n.2043+5276C>G
c.93086G>C (p.Trp31029Ser)
c.66980G>C (p.Trp22327Ser)
c.66839G>C (p.Trp22280Ser)
c.92882G>C (p.Trp30961Ser)
c.88280G>C (p.Trp29427Ser)
c.88277G>C (p.Trp29426Ser)
c.85319G>C (p.Trp28440Ser)
c.66935G>C (p.Trp22312Ser)
c.88430G>C (p.Trp29477Ser)
c.88427G>C (p.Trp29476Ser)
c.87860G>C (p.Trp29287Ser)
c.85202G>C (p.Trp28401Ser)
c.85121G>C (p.Trp28374Ser)
c.66884G>C (p.Trp22295Ser)
c.56738G>C (p.Trp18913Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.178547637C>TCA349478924TTN,TTN-AS1c.86285G>A (p.Trp28762Ter)
c.67370G>A (p.Trp22457Ter)
c.67169G>A (p.Trp22390Ter)
c.66794G>A (p.Trp22265Ter)
c.93989G>A (p.Trp31330Ter)
c.89066G>A (p.Trp29689Ter)
n.447-23663C>T
n.2043+5276C>T
c.93086G>A (p.Trp31029Ter)
c.66980G>A (p.Trp22327Ter)
c.66839G>A (p.Trp22280Ter)
c.92882G>A (p.Trp30961Ter)
c.88280G>A (p.Trp29427Ter)
c.88277G>A (p.Trp29426Ter)
c.85319G>A (p.Trp28440Ter)
c.66935G>A (p.Trp22312Ter)
c.88430G>A (p.Trp29477Ter)
c.88427G>A (p.Trp29476Ter)
c.87860G>A (p.Trp29287Ter)
c.85202G>A (p.Trp28401Ter)
c.85121G>A (p.Trp28374Ter)
c.66884G>A (p.Trp22295Ter)
c.56738G>A (p.Trp18913Ter)
2g.178547638A=CA1310524135TTN,TTN-AS1c.86284T= (p.Trp28762=)
c.67369T= (p.Trp22457=)
c.67168T= (p.Trp22390=)
c.66793T= (p.Trp22265=)
c.93988T= (p.Trp31330=)
c.89065T= (p.Trp29689=)
n.447-23662A=
n.2043+5277A=
c.93085T= (p.Trp31029=)
c.66979T= (p.Trp22327=)
c.66838T= (p.Trp22280=)
c.92881T= (p.Trp30961=)
c.88279T= (p.Trp29427=)
c.88276T= (p.Trp29426=)
c.85318T= (p.Trp28440=)
c.66934T= (p.Trp22312=)
c.88429T= (p.Trp29477=)
c.88426T= (p.Trp29476=)
c.87859T= (p.Trp29287=)
c.85201T= (p.Trp28401=)
c.85120T= (p.Trp28374=)
c.66883T= (p.Trp22295=)
c.56737T= (p.Trp18913=)
2g.178547638A>CCA349478936TTN,TTN-AS1c.86284T>G (p.Trp28762Gly)
c.67369T>G (p.Trp22457Gly)
c.67168T>G (p.Trp22390Gly)
c.66793T>G (p.Trp22265Gly)
c.93988T>G (p.Trp31330Gly)
c.89065T>G (p.Trp29689Gly)
n.447-23662A>C
n.2043+5277A>C
c.93085T>G (p.Trp31029Gly)
c.66979T>G (p.Trp22327Gly)
c.66838T>G (p.Trp22280Gly)
c.92881T>G (p.Trp30961Gly)
c.88279T>G (p.Trp29427Gly)
c.88276T>G (p.Trp29426Gly)
c.85318T>G (p.Trp28440Gly)
c.66934T>G (p.Trp22312Gly)
c.88429T>G (p.Trp29477Gly)
c.88426T>G (p.Trp29476Gly)
c.87859T>G (p.Trp29287Gly)
c.85201T>G (p.Trp28401Gly)
c.85120T>G (p.Trp28374Gly)
c.66883T>G (p.Trp22295Gly)
c.56737T>G (p.Trp18913Gly)
 gnomAD v4
2g.178547638A>GCA349478949TTN,TTN-AS1c.86284T>C (p.Trp28762Arg)
c.67369T>C (p.Trp22457Arg)
c.67168T>C (p.Trp22390Arg)
c.66793T>C (p.Trp22265Arg)
c.93988T>C (p.Trp31330Arg)
c.89065T>C (p.Trp29689Arg)
n.447-23662A>G
n.2043+5277A>G
c.93085T>C (p.Trp31029Arg)
c.66979T>C (p.Trp22327Arg)
c.66838T>C (p.Trp22280Arg)
c.92881T>C (p.Trp30961Arg)
c.88279T>C (p.Trp29427Arg)
c.88276T>C (p.Trp29426Arg)
c.85318T>C (p.Trp28440Arg)
c.66934T>C (p.Trp22312Arg)
c.88429T>C (p.Trp29477Arg)
c.88426T>C (p.Trp29476Arg)
c.87859T>C (p.Trp29287Arg)
c.85201T>C (p.Trp28401Arg)
c.85120T>C (p.Trp28374Arg)
c.66883T>C (p.Trp22295Arg)
c.56737T>C (p.Trp18913Arg)
 ClinVar dbSNP
2g.178547638A>TCA349478958TTN,TTN-AS1c.86284T>A (p.Trp28762Arg)
c.67369T>A (p.Trp22457Arg)
c.67168T>A (p.Trp22390Arg)
c.66793T>A (p.Trp22265Arg)
c.93988T>A (p.Trp31330Arg)
c.89065T>A (p.Trp29689Arg)
n.447-23662A>T
n.2043+5277A>T
c.93085T>A (p.Trp31029Arg)
c.66979T>A (p.Trp22327Arg)
c.66838T>A (p.Trp22280Arg)
c.92881T>A (p.Trp30961Arg)
c.88279T>A (p.Trp29427Arg)
c.88276T>A (p.Trp29426Arg)
c.85318T>A (p.Trp28440Arg)
c.66934T>A (p.Trp22312Arg)
c.88429T>A (p.Trp29477Arg)
c.88426T>A (p.Trp29476Arg)
c.87859T>A (p.Trp29287Arg)
c.85201T>A (p.Trp28401Arg)
c.85120T>A (p.Trp28374Arg)
c.66883T>A (p.Trp22295Arg)
c.56737T>A (p.Trp18913Arg)
2g.178547639T>ACA430242713TTN,TTN-AS1c.86283A>T (p.Ser28761=)
c.67368A>T (p.Ser22456=)
c.67167A>T (p.Ser22389=)
c.66792A>T (p.Ser22264=)
c.93987A>T (p.Ser31329=)
c.89064A>T (p.Ser29688=)
n.447-23661T>A
n.2043+5278T>A
c.93084A>T (p.Ser31028=)
c.66978A>T (p.Ser22326=)
c.66837A>T (p.Ser22279=)
c.92880A>T (p.Ser30960=)
c.88278A>T (p.Ser29426=)
c.88275A>T (p.Ser29425=)
c.85317A>T (p.Ser28439=)
c.66933A>T (p.Ser22311=)
c.88428A>T (p.Ser29476=)
c.88425A>T (p.Ser29475=)
c.87858A>T (p.Ser29286=)
c.85200A>T (p.Ser28400=)
c.85119A>T (p.Ser28373=)
c.66882A>T (p.Ser22294=)
c.56736A>T (p.Ser18912=)
 dbSNP gnomAD v2 gnomAD v4
2g.178547639T>CCA430242715TTN,TTN-AS1c.86283A>G (p.Ser28761=)
c.67368A>G (p.Ser22456=)
c.67167A>G (p.Ser22389=)
c.66792A>G (p.Ser22264=)
c.93987A>G (p.Ser31329=)
c.89064A>G (p.Ser29688=)
n.447-23661T>C
n.2043+5278T>C
c.93084A>G (p.Ser31028=)
c.66978A>G (p.Ser22326=)
c.66837A>G (p.Ser22279=)
c.92880A>G (p.Ser30960=)
c.88278A>G (p.Ser29426=)
c.88275A>G (p.Ser29425=)
c.85317A>G (p.Ser28439=)
c.66933A>G (p.Ser22311=)
c.88428A>G (p.Ser29476=)
c.88425A>G (p.Ser29475=)
c.87858A>G (p.Ser29286=)
c.85200A>G (p.Ser28400=)
c.85119A>G (p.Ser28373=)
c.66882A>G (p.Ser22294=)
c.56736A>G (p.Ser18912=)
2g.178547639T>GCA430242714TTN,TTN-AS1c.86283A>C (p.Ser28761=)
c.67368A>C (p.Ser22456=)
c.67167A>C (p.Ser22389=)
c.66792A>C (p.Ser22264=)
c.93987A>C (p.Ser31329=)
c.89064A>C (p.Ser29688=)
n.447-23661T>G
n.2043+5278T>G
c.93084A>C (p.Ser31028=)
c.66978A>C (p.Ser22326=)
c.66837A>C (p.Ser22279=)
c.92880A>C (p.Ser30960=)
c.88278A>C (p.Ser29426=)
c.88275A>C (p.Ser29425=)
c.85317A>C (p.Ser28439=)
c.66933A>C (p.Ser22311=)
c.88428A>C (p.Ser29476=)
c.88425A>C (p.Ser29475=)
c.87858A>C (p.Ser29286=)
c.85200A>C (p.Ser28400=)
c.85119A>C (p.Ser28373=)
c.66882A>C (p.Ser22294=)
c.56736A>C (p.Ser18912=)
2g.178547639T=CA1310524137TTN,TTN-AS1c.86283A= (p.Ser28761=)
c.67368A= (p.Ser22456=)
c.67167A= (p.Ser22389=)
c.66792A= (p.Ser22264=)
c.93987A= (p.Ser31329=)
c.89064A= (p.Ser29688=)
n.447-23661T=
n.2043+5278T=
c.93084A= (p.Ser31028=)
c.66978A= (p.Ser22326=)
c.66837A= (p.Ser22279=)
c.92880A= (p.Ser30960=)
c.88278A= (p.Ser29426=)
c.88275A= (p.Ser29425=)
c.85317A= (p.Ser28439=)
c.66933A= (p.Ser22311=)
c.88428A= (p.Ser29476=)
c.88425A= (p.Ser29475=)
c.87858A= (p.Ser29286=)
c.85200A= (p.Ser28400=)
c.85119A= (p.Ser28373=)
c.66882A= (p.Ser22294=)
c.56736A= (p.Ser18912=)
2g.178547640G>ACA349478963TTN,TTN-AS1c.86282C>T (p.Ser28761Leu)
c.67367C>T (p.Ser22456Leu)
c.67166C>T (p.Ser22389Leu)
c.66791C>T (p.Ser22264Leu)
c.93986C>T (p.Ser31329Leu)
c.89063C>T (p.Ser29688Leu)
n.447-23660G>A
n.2043+5279G>A
c.93083C>T (p.Ser31028Leu)
c.66977C>T (p.Ser22326Leu)
c.66836C>T (p.Ser22279Leu)
c.92879C>T (p.Ser30960Leu)
c.88277C>T (p.Ser29426Leu)
c.88274C>T (p.Ser29425Leu)
c.85316C>T (p.Ser28439Leu)
c.66932C>T (p.Ser22311Leu)
c.88427C>T (p.Ser29476Leu)
c.88424C>T (p.Ser29475Leu)
c.87857C>T (p.Ser29286Leu)
c.85199C>T (p.Ser28400Leu)
c.85118C>T (p.Ser28373Leu)
c.66881C>T (p.Ser22294Leu)
c.56735C>T (p.Ser18912Leu)
2g.178547640G>CCA349478968TTN,TTN-AS1c.86282C>G (p.Ser28761Ter)
c.67367C>G (p.Ser22456Ter)
c.67166C>G (p.Ser22389Ter)
c.66791C>G (p.Ser22264Ter)
c.93986C>G (p.Ser31329Ter)
c.89063C>G (p.Ser29688Ter)
n.447-23660G>C
n.2043+5279G>C
c.93083C>G (p.Ser31028Ter)
c.66977C>G (p.Ser22326Ter)
c.66836C>G (p.Ser22279Ter)
c.92879C>G (p.Ser30960Ter)
c.88277C>G (p.Ser29426Ter)
c.88274C>G (p.Ser29425Ter)
c.85316C>G (p.Ser28439Ter)
c.66932C>G (p.Ser22311Ter)
c.88427C>G (p.Ser29476Ter)
c.88424C>G (p.Ser29475Ter)
c.87857C>G (p.Ser29286Ter)
c.85199C>G (p.Ser28400Ter)
c.85118C>G (p.Ser28373Ter)
c.66881C>G (p.Ser22294Ter)
c.56735C>G (p.Ser18912Ter)
2g.178547640G>TCA349478978TTN,TTN-AS1c.86282C>A (p.Ser28761Ter)
c.67367C>A (p.Ser22456Ter)
c.67166C>A (p.Ser22389Ter)
c.66791C>A (p.Ser22264Ter)
c.93986C>A (p.Ser31329Ter)
c.89063C>A (p.Ser29688Ter)
n.447-23660G>T
n.2043+5279G>T
c.93083C>A (p.Ser31028Ter)
c.66977C>A (p.Ser22326Ter)
c.66836C>A (p.Ser22279Ter)
c.92879C>A (p.Ser30960Ter)
c.88277C>A (p.Ser29426Ter)
c.88274C>A (p.Ser29425Ter)
c.85316C>A (p.Ser28439Ter)
c.66932C>A (p.Ser22311Ter)
c.88427C>A (p.Ser29476Ter)
c.88424C>A (p.Ser29475Ter)
c.87857C>A (p.Ser29286Ter)
c.85199C>A (p.Ser28400Ter)
c.85118C>A (p.Ser28373Ter)
c.66881C>A (p.Ser22294Ter)
c.56735C>A (p.Ser18912Ter)
2g.178547641A>CCA349478981TTN,TTN-AS1c.86281T>G (p.Ser28761Ala)
c.67366T>G (p.Ser22456Ala)
c.67165T>G (p.Ser22389Ala)
c.66790T>G (p.Ser22264Ala)
c.93985T>G (p.Ser31329Ala)
c.89062T>G (p.Ser29688Ala)
n.447-23659A>C
n.2043+5280A>C
c.93082T>G (p.Ser31028Ala)
c.66976T>G (p.Ser22326Ala)
c.66835T>G (p.Ser22279Ala)
c.92878T>G (p.Ser30960Ala)
c.88276T>G (p.Ser29426Ala)
c.88273T>G (p.Ser29425Ala)
c.85315T>G (p.Ser28439Ala)
c.66931T>G (p.Ser22311Ala)
c.88426T>G (p.Ser29476Ala)
c.88423T>G (p.Ser29475Ala)
c.87856T>G (p.Ser29286Ala)
c.85198T>G (p.Ser28400Ala)
c.85117T>G (p.Ser28373Ala)
c.66880T>G (p.Ser22294Ala)
c.56734T>G (p.Ser18912Ala)
2g.178547641A>GCA349479001TTN,TTN-AS1c.86281T>C (p.Ser28761Pro)
c.67366T>C (p.Ser22456Pro)
c.67165T>C (p.Ser22389Pro)
c.66790T>C (p.Ser22264Pro)
c.93985T>C (p.Ser31329Pro)
c.89062T>C (p.Ser29688Pro)
n.447-23659A>G
n.2043+5280A>G
c.93082T>C (p.Ser31028Pro)
c.66976T>C (p.Ser22326Pro)
c.66835T>C (p.Ser22279Pro)
c.92878T>C (p.Ser30960Pro)
c.88276T>C (p.Ser29426Pro)
c.88273T>C (p.Ser29425Pro)
c.85315T>C (p.Ser28439Pro)
c.66931T>C (p.Ser22311Pro)
c.88426T>C (p.Ser29476Pro)
c.88423T>C (p.Ser29475Pro)
c.87856T>C (p.Ser29286Pro)
c.85198T>C (p.Ser28400Pro)
c.85117T>C (p.Ser28373Pro)
c.66880T>C (p.Ser22294Pro)
c.56734T>C (p.Ser18912Pro)
2g.178547641A>TCA349478996TTN,TTN-AS1c.86281T>A (p.Ser28761Thr)
c.67366T>A (p.Ser22456Thr)
c.67165T>A (p.Ser22389Thr)
c.66790T>A (p.Ser22264Thr)
c.93985T>A (p.Ser31329Thr)
c.89062T>A (p.Ser29688Thr)
n.447-23659A>T
n.2043+5280A>T
c.93082T>A (p.Ser31028Thr)
c.66976T>A (p.Ser22326Thr)
c.66835T>A (p.Ser22279Thr)
c.92878T>A (p.Ser30960Thr)
c.88276T>A (p.Ser29426Thr)
c.88273T>A (p.Ser29425Thr)
c.85315T>A (p.Ser28439Thr)
c.66931T>A (p.Ser22311Thr)
c.88426T>A (p.Ser29476Thr)
c.88423T>A (p.Ser29475Thr)
c.87856T>A (p.Ser29286Thr)
c.85198T>A (p.Ser28400Thr)
c.85117T>A (p.Ser28373Thr)
c.66880T>A (p.Ser22294Thr)
c.56734T>A (p.Ser18912Thr)
2g.178547642C>ACA430242721TTN,TTN-AS1c.86280G>T (p.Leu28760=)
c.67365G>T (p.Leu22455=)
c.67164G>T (p.Leu22388=)
c.66789G>T (p.Leu22263=)
c.93984G>T (p.Leu31328=)
c.89061G>T (p.Leu29687=)
n.447-23658C>A
n.2043+5281C>A
c.93081G>T (p.Leu31027=)
c.66975G>T (p.Leu22325=)
c.66834G>T (p.Leu22278=)
c.92877G>T (p.Leu30959=)
c.88275G>T (p.Leu29425=)
c.88272G>T (p.Leu29424=)
c.85314G>T (p.Leu28438=)
c.66930G>T (p.Leu22310=)
c.88425G>T (p.Leu29475=)
c.88422G>T (p.Leu29474=)
c.87855G>T (p.Leu29285=)
c.85197G>T (p.Leu28399=)
c.85116G>T (p.Leu28372=)
c.66879G>T (p.Leu22293=)
c.56733G>T (p.Leu18911=)
2g.178547642C>GCA430242720TTN,TTN-AS1c.86280G>C (p.Leu28760=)
c.67365G>C (p.Leu22455=)
c.67164G>C (p.Leu22388=)
c.66789G>C (p.Leu22263=)
c.93984G>C (p.Leu31328=)
c.89061G>C (p.Leu29687=)
n.447-23658C>G
n.2043+5281C>G
c.93081G>C (p.Leu31027=)
c.66975G>C (p.Leu22325=)
c.66834G>C (p.Leu22278=)
c.92877G>C (p.Leu30959=)
c.88275G>C (p.Leu29425=)
c.88272G>C (p.Leu29424=)
c.85314G>C (p.Leu28438=)
c.66930G>C (p.Leu22310=)
c.88425G>C (p.Leu29475=)
c.88422G>C (p.Leu29474=)
c.87855G>C (p.Leu29285=)
c.85197G>C (p.Leu28399=)
c.85116G>C (p.Leu28372=)
c.66879G>C (p.Leu22293=)
c.56733G>C (p.Leu18911=)
2g.178547642C>TCA430242719TTN,TTN-AS1c.86280G>A (p.Leu28760=)
c.67365G>A (p.Leu22455=)
c.67164G>A (p.Leu22388=)
c.66789G>A (p.Leu22263=)
c.93984G>A (p.Leu31328=)
c.89061G>A (p.Leu29687=)
n.447-23658C>T
n.2043+5281C>T
c.93081G>A (p.Leu31027=)
c.66975G>A (p.Leu22325=)
c.66834G>A (p.Leu22278=)
c.92877G>A (p.Leu30959=)
c.88275G>A (p.Leu29425=)
c.88272G>A (p.Leu29424=)
c.85314G>A (p.Leu28438=)
c.66930G>A (p.Leu22310=)
c.88425G>A (p.Leu29475=)
c.88422G>A (p.Leu29474=)
c.87855G>A (p.Leu29285=)
c.85197G>A (p.Leu28399=)
c.85116G>A (p.Leu28372=)
c.66879G>A (p.Leu22293=)
c.56733G>A (p.Leu18911=)
 gnomAD v4
2g.178547643A=CA1310524138TTN,TTN-AS1c.86279T= (p.Leu28760=)
c.67364T= (p.Leu22455=)
c.67163T= (p.Leu22388=)
c.66788T= (p.Leu22263=)
c.93983T= (p.Leu31328=)
c.89060T= (p.Leu29687=)
n.447-23657A=
n.2043+5282A=
c.93080T= (p.Leu31027=)
c.66974T= (p.Leu22325=)
c.66833T= (p.Leu22278=)
c.92876T= (p.Leu30959=)
c.88274T= (p.Leu29425=)
c.88271T= (p.Leu29424=)
c.85313T= (p.Leu28438=)
c.66929T= (p.Leu22310=)
c.88424T= (p.Leu29475=)
c.88421T= (p.Leu29474=)
c.87854T= (p.Leu29285=)
c.85196T= (p.Leu28399=)
c.85115T= (p.Leu28372=)
c.66878T= (p.Leu22293=)
c.56732T= (p.Leu18911=)
2g.178547643A>CCA1987218TTN,TTN-AS1c.86279T>G (p.Leu28760Arg)
c.67364T>G (p.Leu22455Arg)
c.67163T>G (p.Leu22388Arg)
c.66788T>G (p.Leu22263Arg)
c.93983T>G (p.Leu31328Arg)
c.89060T>G (p.Leu29687Arg)
n.447-23657A>C
n.2043+5282A>C
c.93080T>G (p.Leu31027Arg)
c.66974T>G (p.Leu22325Arg)
c.66833T>G (p.Leu22278Arg)
c.92876T>G (p.Leu30959Arg)
c.88274T>G (p.Leu29425Arg)
c.88271T>G (p.Leu29424Arg)
c.85313T>G (p.Leu28438Arg)
c.66929T>G (p.Leu22310Arg)
c.88424T>G (p.Leu29475Arg)
c.88421T>G (p.Leu29474Arg)
c.87854T>G (p.Leu29285Arg)
c.85196T>G (p.Leu28399Arg)
c.85115T>G (p.Leu28372Arg)
c.66878T>G (p.Leu22293Arg)
c.56732T>G (p.Leu18911Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178547643A>GCA349479011TTN,TTN-AS1c.86279T>C (p.Leu28760Pro)
c.67364T>C (p.Leu22455Pro)
c.67163T>C (p.Leu22388Pro)
c.66788T>C (p.Leu22263Pro)
c.93983T>C (p.Leu31328Pro)
c.89060T>C (p.Leu29687Pro)
n.447-23657A>G
n.2043+5282A>G
c.93080T>C (p.Leu31027Pro)
c.66974T>C (p.Leu22325Pro)
c.66833T>C (p.Leu22278Pro)
c.92876T>C (p.Leu30959Pro)
c.88274T>C (p.Leu29425Pro)
c.88271T>C (p.Leu29424Pro)
c.85313T>C (p.Leu28438Pro)
c.66929T>C (p.Leu22310Pro)
c.88424T>C (p.Leu29475Pro)
c.88421T>C (p.Leu29474Pro)
c.87854T>C (p.Leu29285Pro)
c.85196T>C (p.Leu28399Pro)
c.85115T>C (p.Leu28372Pro)
c.66878T>C (p.Leu22293Pro)
c.56732T>C (p.Leu18911Pro)
2g.178547643A>TCA349479013TTN,TTN-AS1c.86279T>A (p.Leu28760Gln)
c.67364T>A (p.Leu22455Gln)
c.67163T>A (p.Leu22388Gln)
c.66788T>A (p.Leu22263Gln)
c.93983T>A (p.Leu31328Gln)
c.89060T>A (p.Leu29687Gln)
n.447-23657A>T
n.2043+5282A>T
c.93080T>A (p.Leu31027Gln)
c.66974T>A (p.Leu22325Gln)
c.66833T>A (p.Leu22278Gln)
c.92876T>A (p.Leu30959Gln)
c.88274T>A (p.Leu29425Gln)
c.88271T>A (p.Leu29424Gln)
c.85313T>A (p.Leu28438Gln)
c.66929T>A (p.Leu22310Gln)
c.88424T>A (p.Leu29475Gln)
c.88421T>A (p.Leu29474Gln)
c.87854T>A (p.Leu29285Gln)
c.85196T>A (p.Leu28399Gln)
c.85115T>A (p.Leu28372Gln)
c.66878T>A (p.Leu22293Gln)
c.56732T>A (p.Leu18911Gln)
2g.178547644G>ACA430242723TTN,TTN-AS1c.86278C>T (p.Leu28760=)
c.67363C>T (p.Leu22455=)
c.67162C>T (p.Leu22388=)
c.66787C>T (p.Leu22263=)
c.93982C>T (p.Leu31328=)
c.89059C>T (p.Leu29687=)
n.447-23656G>A
n.2043+5283G>A
c.93079C>T (p.Leu31027=)
c.66973C>T (p.Leu22325=)
c.66832C>T (p.Leu22278=)
c.92875C>T (p.Leu30959=)
c.88273C>T (p.Leu29425=)
c.88270C>T (p.Leu29424=)
c.85312C>T (p.Leu28438=)
c.66928C>T (p.Leu22310=)
c.88423C>T (p.Leu29475=)
c.88420C>T (p.Leu29474=)
c.87853C>T (p.Leu29285=)
c.85195C>T (p.Leu28399=)
c.85114C>T (p.Leu28372=)
c.66877C>T (p.Leu22293=)
c.56731C>T (p.Leu18911=)
 COSMIC COSMIC COSMIC COSMIC
2g.178547644G>CCA349479016TTN,TTN-AS1c.86278C>G (p.Leu28760Val)
c.67363C>G (p.Leu22455Val)
c.67162C>G (p.Leu22388Val)
c.66787C>G (p.Leu22263Val)
c.93982C>G (p.Leu31328Val)
c.89059C>G (p.Leu29687Val)
n.447-23656G>C
n.2043+5283G>C
c.93079C>G (p.Leu31027Val)
c.66973C>G (p.Leu22325Val)
c.66832C>G (p.Leu22278Val)
c.92875C>G (p.Leu30959Val)
c.88273C>G (p.Leu29425Val)
c.88270C>G (p.Leu29424Val)
c.85312C>G (p.Leu28438Val)
c.66928C>G (p.Leu22310Val)
c.88423C>G (p.Leu29475Val)
c.88420C>G (p.Leu29474Val)
c.87853C>G (p.Leu29285Val)
c.85195C>G (p.Leu28399Val)
c.85114C>G (p.Leu28372Val)
c.66877C>G (p.Leu22293Val)
c.56731C>G (p.Leu18911Val)
2g.178547644G>TCA349479018TTN,TTN-AS1c.86278C>A (p.Leu28760Met)
c.67363C>A (p.Leu22455Met)
c.67162C>A (p.Leu22388Met)
c.66787C>A (p.Leu22263Met)
c.93982C>A (p.Leu31328Met)
c.89059C>A (p.Leu29687Met)
n.447-23656G>T
n.2043+5283G>T
c.93079C>A (p.Leu31027Met)
c.66973C>A (p.Leu22325Met)
c.66832C>A (p.Leu22278Met)
c.92875C>A (p.Leu30959Met)
c.88273C>A (p.Leu29425Met)
c.88270C>A (p.Leu29424Met)
c.85312C>A (p.Leu28438Met)
c.66928C>A (p.Leu22310Met)
c.88423C>A (p.Leu29475Met)
c.88420C>A (p.Leu29474Met)
c.87853C>A (p.Leu29285Met)
c.85195C>A (p.Leu28399Met)
c.85114C>A (p.Leu28372Met)
c.66877C>A (p.Leu22293Met)
c.56731C>A (p.Leu18911Met)
2g.178547645G>ACA430242724TTN,TTN-AS1c.86277C>T (p.Val28759=)
c.67362C>T (p.Val22454=)
c.67161C>T (p.Val22387=)
c.66786C>T (p.Val22262=)
c.93981C>T (p.Val31327=)
c.89058C>T (p.Val29686=)
n.447-23655G>A
n.2043+5284G>A
c.93078C>T (p.Val31026=)
c.66972C>T (p.Val22324=)
c.66831C>T (p.Val22277=)
c.92874C>T (p.Val30958=)
c.88272C>T (p.Val29424=)
c.88269C>T (p.Val29423=)
c.85311C>T (p.Val28437=)
c.66927C>T (p.Val22309=)
c.88422C>T (p.Val29474=)
c.88419C>T (p.Val29473=)
c.87852C>T (p.Val29284=)
c.85194C>T (p.Val28398=)
c.85113C>T (p.Val28371=)
c.66876C>T (p.Val22292=)
c.56730C>T (p.Val18910=)
2g.178547645G>CCA181625TTN,TTN-AS1c.86277C>G (p.Val28759=)
c.67362C>G (p.Val22454=)
c.67161C>G (p.Val22387=)
c.66786C>G (p.Val22262=)
c.93981C>G (p.Val31327=)
c.89058C>G (p.Val29686=)
n.447-23655G>C
n.2043+5284G>C
c.93078C>G (p.Val31026=)
c.66972C>G (p.Val22324=)
c.66831C>G (p.Val22277=)
c.92874C>G (p.Val30958=)
c.88272C>G (p.Val29424=)
c.88269C>G (p.Val29423=)
c.85311C>G (p.Val28437=)
c.66927C>G (p.Val22309=)
c.88422C>G (p.Val29474=)
c.88419C>G (p.Val29473=)
c.87852C>G (p.Val29284=)
c.85194C>G (p.Val28398=)
c.85113C>G (p.Val28371=)
c.66876C>G (p.Val22292=)
c.56730C>G (p.Val18910=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched