Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178544367A=CA1310521550TTN,TTN-AS1c.88158T= (p.Asp29386=)
c.69243T= (p.Asp23081=)
c.69042T= (p.Asp23014=)
c.68667T= (p.Asp22889=)
c.95862T= (p.Asp31954=)
c.90939T= (p.Asp30313=)
n.446+20731A=
n.2043+2006A=
c.94959T= (p.Asp31653=)
c.68853T= (p.Asp22951=)
c.68712T= (p.Asp22904=)
c.94755T= (p.Asp31585=)
c.90153T= (p.Asp30051=)
c.90150T= (p.Asp30050=)
c.87192T= (p.Asp29064=)
c.68808T= (p.Asp22936=)
c.90303T= (p.Asp30101=)
c.90300T= (p.Asp30100=)
c.89733T= (p.Asp29911=)
c.87075T= (p.Asp29025=)
c.86994T= (p.Asp28998=)
c.68757T= (p.Asp22919=)
c.58611T= (p.Asp19537=)
2g.178544367A>CCA349456685TTN,TTN-AS1c.88158T>G (p.Asp29386Glu)
c.69243T>G (p.Asp23081Glu)
c.69042T>G (p.Asp23014Glu)
c.68667T>G (p.Asp22889Glu)
c.95862T>G (p.Asp31954Glu)
c.90939T>G (p.Asp30313Glu)
n.446+20731A>C
n.2043+2006A>C
c.94959T>G (p.Asp31653Glu)
c.68853T>G (p.Asp22951Glu)
c.68712T>G (p.Asp22904Glu)
c.94755T>G (p.Asp31585Glu)
c.90153T>G (p.Asp30051Glu)
c.90150T>G (p.Asp30050Glu)
c.87192T>G (p.Asp29064Glu)
c.68808T>G (p.Asp22936Glu)
c.90303T>G (p.Asp30101Glu)
c.90300T>G (p.Asp30100Glu)
c.89733T>G (p.Asp29911Glu)
c.87075T>G (p.Asp29025Glu)
c.86994T>G (p.Asp28998Glu)
c.68757T>G (p.Asp22919Glu)
c.58611T>G (p.Asp19537Glu)
2g.178544367A>GCA430241836TTN,TTN-AS1c.88158T>C (p.Asp29386=)
c.69243T>C (p.Asp23081=)
c.69042T>C (p.Asp23014=)
c.68667T>C (p.Asp22889=)
c.95862T>C (p.Asp31954=)
c.90939T>C (p.Asp30313=)
n.446+20731A>G
n.2043+2006A>G
c.94959T>C (p.Asp31653=)
c.68853T>C (p.Asp22951=)
c.68712T>C (p.Asp22904=)
c.94755T>C (p.Asp31585=)
c.90153T>C (p.Asp30051=)
c.90150T>C (p.Asp30050=)
c.87192T>C (p.Asp29064=)
c.68808T>C (p.Asp22936=)
c.90303T>C (p.Asp30101=)
c.90300T>C (p.Asp30100=)
c.89733T>C (p.Asp29911=)
c.87075T>C (p.Asp29025=)
c.86994T>C (p.Asp28998=)
c.68757T>C (p.Asp22919=)
c.58611T>C (p.Asp19537=)
2g.178544367A>TCA1986863TTN,TTN-AS1c.88158T>A (p.Asp29386Glu)
c.69243T>A (p.Asp23081Glu)
c.69042T>A (p.Asp23014Glu)
c.68667T>A (p.Asp22889Glu)
c.95862T>A (p.Asp31954Glu)
c.90939T>A (p.Asp30313Glu)
n.446+20731A>T
n.2043+2006A>T
c.94959T>A (p.Asp31653Glu)
c.68853T>A (p.Asp22951Glu)
c.68712T>A (p.Asp22904Glu)
c.94755T>A (p.Asp31585Glu)
c.90153T>A (p.Asp30051Glu)
c.90150T>A (p.Asp30050Glu)
c.87192T>A (p.Asp29064Glu)
c.68808T>A (p.Asp22936Glu)
c.90303T>A (p.Asp30101Glu)
c.90300T>A (p.Asp30100Glu)
c.89733T>A (p.Asp29911Glu)
c.87075T>A (p.Asp29025Glu)
c.86994T>A (p.Asp28998Glu)
c.68757T>A (p.Asp22919Glu)
c.58611T>A (p.Asp19537Glu)
 dbSNP ExAC gnomAD v2
2g.178544368T>ACA349456708TTN,TTN-AS1c.88157A>T (p.Asp29386Val)
c.69242A>T (p.Asp23081Val)
c.69041A>T (p.Asp23014Val)
c.68666A>T (p.Asp22889Val)
c.95861A>T (p.Asp31954Val)
c.90938A>T (p.Asp30313Val)
n.446+20732T>A
n.2043+2007T>A
c.94958A>T (p.Asp31653Val)
c.68852A>T (p.Asp22951Val)
c.68711A>T (p.Asp22904Val)
c.94754A>T (p.Asp31585Val)
c.90152A>T (p.Asp30051Val)
c.90149A>T (p.Asp30050Val)
c.87191A>T (p.Asp29064Val)
c.68807A>T (p.Asp22936Val)
c.90302A>T (p.Asp30101Val)
c.90299A>T (p.Asp30100Val)
c.89732A>T (p.Asp29911Val)
c.87074A>T (p.Asp29025Val)
c.86993A>T (p.Asp28998Val)
c.68756A>T (p.Asp22919Val)
c.58610A>T (p.Asp19537Val)
2g.178544368T>CCA349456702TTN,TTN-AS1c.88157A>G (p.Asp29386Gly)
c.69242A>G (p.Asp23081Gly)
c.69041A>G (p.Asp23014Gly)
c.68666A>G (p.Asp22889Gly)
c.95861A>G (p.Asp31954Gly)
c.90938A>G (p.Asp30313Gly)
n.446+20732T>C
n.2043+2007T>C
c.94958A>G (p.Asp31653Gly)
c.68852A>G (p.Asp22951Gly)
c.68711A>G (p.Asp22904Gly)
c.94754A>G (p.Asp31585Gly)
c.90152A>G (p.Asp30051Gly)
c.90149A>G (p.Asp30050Gly)
c.87191A>G (p.Asp29064Gly)
c.68807A>G (p.Asp22936Gly)
c.90302A>G (p.Asp30101Gly)
c.90299A>G (p.Asp30100Gly)
c.89732A>G (p.Asp29911Gly)
c.87074A>G (p.Asp29025Gly)
c.86993A>G (p.Asp28998Gly)
c.68756A>G (p.Asp22919Gly)
c.58610A>G (p.Asp19537Gly)
2g.178544368T>GCA349456689TTN,TTN-AS1c.88157A>C (p.Asp29386Ala)
c.69242A>C (p.Asp23081Ala)
c.69041A>C (p.Asp23014Ala)
c.68666A>C (p.Asp22889Ala)
c.95861A>C (p.Asp31954Ala)
c.90938A>C (p.Asp30313Ala)
n.446+20732T>G
n.2043+2007T>G
c.94958A>C (p.Asp31653Ala)
c.68852A>C (p.Asp22951Ala)
c.68711A>C (p.Asp22904Ala)
c.94754A>C (p.Asp31585Ala)
c.90152A>C (p.Asp30051Ala)
c.90149A>C (p.Asp30050Ala)
c.87191A>C (p.Asp29064Ala)
c.68807A>C (p.Asp22936Ala)
c.90302A>C (p.Asp30101Ala)
c.90299A>C (p.Asp30100Ala)
c.89732A>C (p.Asp29911Ala)
c.87074A>C (p.Asp29025Ala)
c.86993A>C (p.Asp28998Ala)
c.68756A>C (p.Asp22919Ala)
c.58610A>C (p.Asp19537Ala)
2g.178544369C>ACA349456713TTN,TTN-AS1c.88156G>T (p.Asp29386Tyr)
c.69241G>T (p.Asp23081Tyr)
c.69040G>T (p.Asp23014Tyr)
c.68665G>T (p.Asp22889Tyr)
c.95860G>T (p.Asp31954Tyr)
c.90937G>T (p.Asp30313Tyr)
n.446+20733C>A
n.2043+2008C>A
c.94957G>T (p.Asp31653Tyr)
c.68851G>T (p.Asp22951Tyr)
c.68710G>T (p.Asp22904Tyr)
c.94753G>T (p.Asp31585Tyr)
c.90151G>T (p.Asp30051Tyr)
c.90148G>T (p.Asp30050Tyr)
c.87190G>T (p.Asp29064Tyr)
c.68806G>T (p.Asp22936Tyr)
c.90301G>T (p.Asp30101Tyr)
c.90298G>T (p.Asp30100Tyr)
c.89731G>T (p.Asp29911Tyr)
c.87073G>T (p.Asp29025Tyr)
c.86992G>T (p.Asp28998Tyr)
c.68755G>T (p.Asp22919Tyr)
c.58609G>T (p.Asp19537Tyr)
2g.178544369C>GCA349456717TTN,TTN-AS1c.88156G>C (p.Asp29386His)
c.69241G>C (p.Asp23081His)
c.69040G>C (p.Asp23014His)
c.68665G>C (p.Asp22889His)
c.95860G>C (p.Asp31954His)
c.90937G>C (p.Asp30313His)
n.446+20733C>G
n.2043+2008C>G
c.94957G>C (p.Asp31653His)
c.68851G>C (p.Asp22951His)
c.68710G>C (p.Asp22904His)
c.94753G>C (p.Asp31585His)
c.90151G>C (p.Asp30051His)
c.90148G>C (p.Asp30050His)
c.87190G>C (p.Asp29064His)
c.68806G>C (p.Asp22936His)
c.90301G>C (p.Asp30101His)
c.90298G>C (p.Asp30100His)
c.89731G>C (p.Asp29911His)
c.87073G>C (p.Asp29025His)
c.86992G>C (p.Asp28998His)
c.68755G>C (p.Asp22919His)
c.58609G>C (p.Asp19537His)
2g.178544369C>TCA349456719TTN,TTN-AS1c.88156G>A (p.Asp29386Asn)
c.69241G>A (p.Asp23081Asn)
c.69040G>A (p.Asp23014Asn)
c.68665G>A (p.Asp22889Asn)
c.95860G>A (p.Asp31954Asn)
c.90937G>A (p.Asp30313Asn)
n.446+20733C>T
n.2043+2008C>T
c.94957G>A (p.Asp31653Asn)
c.68851G>A (p.Asp22951Asn)
c.68710G>A (p.Asp22904Asn)
c.94753G>A (p.Asp31585Asn)
c.90151G>A (p.Asp30051Asn)
c.90148G>A (p.Asp30050Asn)
c.87190G>A (p.Asp29064Asn)
c.68806G>A (p.Asp22936Asn)
c.90301G>A (p.Asp30101Asn)
c.90298G>A (p.Asp30100Asn)
c.89731G>A (p.Asp29911Asn)
c.87073G>A (p.Asp29025Asn)
c.86992G>A (p.Asp28998Asn)
c.68755G>A (p.Asp22919Asn)
c.58609G>A (p.Asp19537Asn)
2g.178544370A=CA1310521552TTN,TTN-AS1c.88155T= (p.Thr29385=)
c.69240T= (p.Thr23080=)
c.69039T= (p.Thr23013=)
c.68664T= (p.Thr22888=)
c.95859T= (p.Thr31953=)
c.90936T= (p.Thr30312=)
n.446+20734A=
n.2043+2009A=
c.94956T= (p.Thr31652=)
c.68850T= (p.Thr22950=)
c.68709T= (p.Thr22903=)
c.94752T= (p.Thr31584=)
c.90150T= (p.Thr30050=)
c.90147T= (p.Thr30049=)
c.87189T= (p.Thr29063=)
c.68805T= (p.Thr22935=)
c.90300T= (p.Thr30100=)
c.90297T= (p.Thr30099=)
c.89730T= (p.Thr29910=)
c.87072T= (p.Thr29024=)
c.86991T= (p.Thr28997=)
c.68754T= (p.Thr22918=)
c.58608T= (p.Thr19536=)
2g.178544370A>CCA430241840TTN,TTN-AS1c.88155T>G (p.Thr29385=)
c.69240T>G (p.Thr23080=)
c.69039T>G (p.Thr23013=)
c.68664T>G (p.Thr22888=)
c.95859T>G (p.Thr31953=)
c.90936T>G (p.Thr30312=)
n.446+20734A>C
n.2043+2009A>C
c.94956T>G (p.Thr31652=)
c.68850T>G (p.Thr22950=)
c.68709T>G (p.Thr22903=)
c.94752T>G (p.Thr31584=)
c.90150T>G (p.Thr30050=)
c.90147T>G (p.Thr30049=)
c.87189T>G (p.Thr29063=)
c.68805T>G (p.Thr22935=)
c.90300T>G (p.Thr30100=)
c.90297T>G (p.Thr30099=)
c.89730T>G (p.Thr29910=)
c.87072T>G (p.Thr29024=)
c.86991T>G (p.Thr28997=)
c.68754T>G (p.Thr22918=)
c.58608T>G (p.Thr19536=)
2g.178544370A>GCA430241841TTN,TTN-AS1c.88155T>C (p.Thr29385=)
c.69240T>C (p.Thr23080=)
c.69039T>C (p.Thr23013=)
c.68664T>C (p.Thr22888=)
c.95859T>C (p.Thr31953=)
c.90936T>C (p.Thr30312=)
n.446+20734A>G
n.2043+2009A>G
c.94956T>C (p.Thr31652=)
c.68850T>C (p.Thr22950=)
c.68709T>C (p.Thr22903=)
c.94752T>C (p.Thr31584=)
c.90150T>C (p.Thr30050=)
c.90147T>C (p.Thr30049=)
c.87189T>C (p.Thr29063=)
c.68805T>C (p.Thr22935=)
c.90300T>C (p.Thr30100=)
c.90297T>C (p.Thr30099=)
c.89730T>C (p.Thr29910=)
c.87072T>C (p.Thr29024=)
c.86991T>C (p.Thr28997=)
c.68754T>C (p.Thr22918=)
c.58608T>C (p.Thr19536=)
 dbSNP
2g.178544370A>TCA430241842TTN,TTN-AS1c.88155T>A (p.Thr29385=)
c.69240T>A (p.Thr23080=)
c.69039T>A (p.Thr23013=)
c.68664T>A (p.Thr22888=)
c.95859T>A (p.Thr31953=)
c.90936T>A (p.Thr30312=)
n.446+20734A>T
n.2043+2009A>T
c.94956T>A (p.Thr31652=)
c.68850T>A (p.Thr22950=)
c.68709T>A (p.Thr22903=)
c.94752T>A (p.Thr31584=)
c.90150T>A (p.Thr30050=)
c.90147T>A (p.Thr30049=)
c.87189T>A (p.Thr29063=)
c.68805T>A (p.Thr22935=)
c.90300T>A (p.Thr30100=)
c.90297T>A (p.Thr30099=)
c.89730T>A (p.Thr29910=)
c.87072T>A (p.Thr29024=)
c.86991T>A (p.Thr28997=)
c.68754T>A (p.Thr22918=)
c.58608T>A (p.Thr19536=)
2g.178544371G>ACA349456723TTN,TTN-AS1c.88154C>T (p.Thr29385Ile)
c.69239C>T (p.Thr23080Ile)
c.69038C>T (p.Thr23013Ile)
c.68663C>T (p.Thr22888Ile)
c.95858C>T (p.Thr31953Ile)
c.90935C>T (p.Thr30312Ile)
n.446+20735G>A
n.2043+2010G>A
c.94955C>T (p.Thr31652Ile)
c.68849C>T (p.Thr22950Ile)
c.68708C>T (p.Thr22903Ile)
c.94751C>T (p.Thr31584Ile)
c.90149C>T (p.Thr30050Ile)
c.90146C>T (p.Thr30049Ile)
c.87188C>T (p.Thr29063Ile)
c.68804C>T (p.Thr22935Ile)
c.90299C>T (p.Thr30100Ile)
c.90296C>T (p.Thr30099Ile)
c.89729C>T (p.Thr29910Ile)
c.87071C>T (p.Thr29024Ile)
c.86990C>T (p.Thr28997Ile)
c.68753C>T (p.Thr22918Ile)
c.58607C>T (p.Thr19536Ile)
2g.178544371G>CCA349456726TTN,TTN-AS1c.88154C>G (p.Thr29385Ser)
c.69239C>G (p.Thr23080Ser)
c.69038C>G (p.Thr23013Ser)
c.68663C>G (p.Thr22888Ser)
c.95858C>G (p.Thr31953Ser)
c.90935C>G (p.Thr30312Ser)
n.446+20735G>C
n.2043+2010G>C
c.94955C>G (p.Thr31652Ser)
c.68849C>G (p.Thr22950Ser)
c.68708C>G (p.Thr22903Ser)
c.94751C>G (p.Thr31584Ser)
c.90149C>G (p.Thr30050Ser)
c.90146C>G (p.Thr30049Ser)
c.87188C>G (p.Thr29063Ser)
c.68804C>G (p.Thr22935Ser)
c.90299C>G (p.Thr30100Ser)
c.90296C>G (p.Thr30099Ser)
c.89729C>G (p.Thr29910Ser)
c.87071C>G (p.Thr29024Ser)
c.86990C>G (p.Thr28997Ser)
c.68753C>G (p.Thr22918Ser)
c.58607C>G (p.Thr19536Ser)
2g.178544371G>TCA349456730TTN,TTN-AS1c.88154C>A (p.Thr29385Asn)
c.69239C>A (p.Thr23080Asn)
c.69038C>A (p.Thr23013Asn)
c.68663C>A (p.Thr22888Asn)
c.95858C>A (p.Thr31953Asn)
c.90935C>A (p.Thr30312Asn)
n.446+20735G>T
n.2043+2010G>T
c.94955C>A (p.Thr31652Asn)
c.68849C>A (p.Thr22950Asn)
c.68708C>A (p.Thr22903Asn)
c.94751C>A (p.Thr31584Asn)
c.90149C>A (p.Thr30050Asn)
c.90146C>A (p.Thr30049Asn)
c.87188C>A (p.Thr29063Asn)
c.68804C>A (p.Thr22935Asn)
c.90299C>A (p.Thr30100Asn)
c.90296C>A (p.Thr30099Asn)
c.89729C>A (p.Thr29910Asn)
c.87071C>A (p.Thr29024Asn)
c.86990C>A (p.Thr28997Asn)
c.68753C>A (p.Thr22918Asn)
c.58607C>A (p.Thr19536Asn)
2g.178544372T>ACA349456739TTN,TTN-AS1c.88153A>T (p.Thr29385Ser)
c.69238A>T (p.Thr23080Ser)
c.69037A>T (p.Thr23013Ser)
c.68662A>T (p.Thr22888Ser)
c.95857A>T (p.Thr31953Ser)
c.90934A>T (p.Thr30312Ser)
n.446+20736T>A
n.2043+2011T>A
c.94954A>T (p.Thr31652Ser)
c.68848A>T (p.Thr22950Ser)
c.68707A>T (p.Thr22903Ser)
c.94750A>T (p.Thr31584Ser)
c.90148A>T (p.Thr30050Ser)
c.90145A>T (p.Thr30049Ser)
c.87187A>T (p.Thr29063Ser)
c.68803A>T (p.Thr22935Ser)
c.90298A>T (p.Thr30100Ser)
c.90295A>T (p.Thr30099Ser)
c.89728A>T (p.Thr29910Ser)
c.87070A>T (p.Thr29024Ser)
c.86989A>T (p.Thr28997Ser)
c.68752A>T (p.Thr22918Ser)
c.58606A>T (p.Thr19536Ser)
 gnomAD v4
2g.178544372T>CCA349456735TTN,TTN-AS1c.88153A>G (p.Thr29385Ala)
c.69238A>G (p.Thr23080Ala)
c.69037A>G (p.Thr23013Ala)
c.68662A>G (p.Thr22888Ala)
c.95857A>G (p.Thr31953Ala)
c.90934A>G (p.Thr30312Ala)
n.446+20736T>C
n.2043+2011T>C
c.94954A>G (p.Thr31652Ala)
c.68848A>G (p.Thr22950Ala)
c.68707A>G (p.Thr22903Ala)
c.94750A>G (p.Thr31584Ala)
c.90148A>G (p.Thr30050Ala)
c.90145A>G (p.Thr30049Ala)
c.87187A>G (p.Thr29063Ala)
c.68803A>G (p.Thr22935Ala)
c.90298A>G (p.Thr30100Ala)
c.90295A>G (p.Thr30099Ala)
c.89728A>G (p.Thr29910Ala)
c.87070A>G (p.Thr29024Ala)
c.86989A>G (p.Thr28997Ala)
c.68752A>G (p.Thr22918Ala)
c.58606A>G (p.Thr19536Ala)
2g.178544372T>GCA349456737TTN,TTN-AS1c.88153A>C (p.Thr29385Pro)
c.69238A>C (p.Thr23080Pro)
c.69037A>C (p.Thr23013Pro)
c.68662A>C (p.Thr22888Pro)
c.95857A>C (p.Thr31953Pro)
c.90934A>C (p.Thr30312Pro)
n.446+20736T>G
n.2043+2011T>G
c.94954A>C (p.Thr31652Pro)
c.68848A>C (p.Thr22950Pro)
c.68707A>C (p.Thr22903Pro)
c.94750A>C (p.Thr31584Pro)
c.90148A>C (p.Thr30050Pro)
c.90145A>C (p.Thr30049Pro)
c.87187A>C (p.Thr29063Pro)
c.68803A>C (p.Thr22935Pro)
c.90298A>C (p.Thr30100Pro)
c.90295A>C (p.Thr30099Pro)
c.89728A>C (p.Thr29910Pro)
c.87070A>C (p.Thr29024Pro)
c.86989A>C (p.Thr28997Pro)
c.68752A>C (p.Thr22918Pro)
c.58606A>C (p.Thr19536Pro)
2g.178544373G>ACA430241849TTN,TTN-AS1c.88152C>T (p.Asp29384=)
c.69237C>T (p.Asp23079=)
c.69036C>T (p.Asp23012=)
c.68661C>T (p.Asp22887=)
c.95856C>T (p.Asp31952=)
c.90933C>T (p.Asp30311=)
n.446+20737G>A
n.2043+2012G>A
c.94953C>T (p.Asp31651=)
c.68847C>T (p.Asp22949=)
c.68706C>T (p.Asp22902=)
c.94749C>T (p.Asp31583=)
c.90147C>T (p.Asp30049=)
c.90144C>T (p.Asp30048=)
c.87186C>T (p.Asp29062=)
c.68802C>T (p.Asp22934=)
c.90297C>T (p.Asp30099=)
c.90294C>T (p.Asp30098=)
c.89727C>T (p.Asp29909=)
c.87069C>T (p.Asp29023=)
c.86988C>T (p.Asp28996=)
c.68751C>T (p.Asp22917=)
c.58605C>T (p.Asp19535=)
2g.178544373G>CCA349456742TTN,TTN-AS1c.88152C>G (p.Asp29384Glu)
c.69237C>G (p.Asp23079Glu)
c.69036C>G (p.Asp23012Glu)
c.68661C>G (p.Asp22887Glu)
c.95856C>G (p.Asp31952Glu)
c.90933C>G (p.Asp30311Glu)
n.446+20737G>C
n.2043+2012G>C
c.94953C>G (p.Asp31651Glu)
c.68847C>G (p.Asp22949Glu)
c.68706C>G (p.Asp22902Glu)
c.94749C>G (p.Asp31583Glu)
c.90147C>G (p.Asp30049Glu)
c.90144C>G (p.Asp30048Glu)
c.87186C>G (p.Asp29062Glu)
c.68802C>G (p.Asp22934Glu)
c.90297C>G (p.Asp30099Glu)
c.90294C>G (p.Asp30098Glu)
c.89727C>G (p.Asp29909Glu)
c.87069C>G (p.Asp29023Glu)
c.86988C>G (p.Asp28996Glu)
c.68751C>G (p.Asp22917Glu)
c.58605C>G (p.Asp19535Glu)
2g.178544373G>TCA349456748TTN,TTN-AS1c.88152C>A (p.Asp29384Glu)
c.69237C>A (p.Asp23079Glu)
c.69036C>A (p.Asp23012Glu)
c.68661C>A (p.Asp22887Glu)
c.95856C>A (p.Asp31952Glu)
c.90933C>A (p.Asp30311Glu)
n.446+20737G>T
n.2043+2012G>T
c.94953C>A (p.Asp31651Glu)
c.68847C>A (p.Asp22949Glu)
c.68706C>A (p.Asp22902Glu)
c.94749C>A (p.Asp31583Glu)
c.90147C>A (p.Asp30049Glu)
c.90144C>A (p.Asp30048Glu)
c.87186C>A (p.Asp29062Glu)
c.68802C>A (p.Asp22934Glu)
c.90297C>A (p.Asp30099Glu)
c.90294C>A (p.Asp30098Glu)
c.89727C>A (p.Asp29909Glu)
c.87069C>A (p.Asp29023Glu)
c.86988C>A (p.Asp28996Glu)
c.68751C>A (p.Asp22917Glu)
c.58605C>A (p.Asp19535Glu)
2g.178544374T>ACA349456752TTN,TTN-AS1c.88151A>T (p.Asp29384Val)
c.69236A>T (p.Asp23079Val)
c.69035A>T (p.Asp23012Val)
c.68660A>T (p.Asp22887Val)
c.95855A>T (p.Asp31952Val)
c.90932A>T (p.Asp30311Val)
n.446+20738T>A
n.2043+2013T>A
c.94952A>T (p.Asp31651Val)
c.68846A>T (p.Asp22949Val)
c.68705A>T (p.Asp22902Val)
c.94748A>T (p.Asp31583Val)
c.90146A>T (p.Asp30049Val)
c.90143A>T (p.Asp30048Val)
c.87185A>T (p.Asp29062Val)
c.68801A>T (p.Asp22934Val)
c.90296A>T (p.Asp30099Val)
c.90293A>T (p.Asp30098Val)
c.89726A>T (p.Asp29909Val)
c.87068A>T (p.Asp29023Val)
c.86987A>T (p.Asp28996Val)
c.68750A>T (p.Asp22917Val)
c.58604A>T (p.Asp19535Val)
2g.178544374T>CCA349456758TTN,TTN-AS1c.88151A>G (p.Asp29384Gly)
c.69236A>G (p.Asp23079Gly)
c.69035A>G (p.Asp23012Gly)
c.68660A>G (p.Asp22887Gly)
c.95855A>G (p.Asp31952Gly)
c.90932A>G (p.Asp30311Gly)
n.446+20738T>C
n.2043+2013T>C
c.94952A>G (p.Asp31651Gly)
c.68846A>G (p.Asp22949Gly)
c.68705A>G (p.Asp22902Gly)
c.94748A>G (p.Asp31583Gly)
c.90146A>G (p.Asp30049Gly)
c.90143A>G (p.Asp30048Gly)
c.87185A>G (p.Asp29062Gly)
c.68801A>G (p.Asp22934Gly)
c.90296A>G (p.Asp30099Gly)
c.90293A>G (p.Asp30098Gly)
c.89726A>G (p.Asp29909Gly)
c.87068A>G (p.Asp29023Gly)
c.86987A>G (p.Asp28996Gly)
c.68750A>G (p.Asp22917Gly)
c.58604A>G (p.Asp19535Gly)
2g.178544374T>GCA349456770TTN,TTN-AS1c.88151A>C (p.Asp29384Ala)
c.69236A>C (p.Asp23079Ala)
c.69035A>C (p.Asp23012Ala)
c.68660A>C (p.Asp22887Ala)
c.95855A>C (p.Asp31952Ala)
c.90932A>C (p.Asp30311Ala)
n.446+20738T>G
n.2043+2013T>G
c.94952A>C (p.Asp31651Ala)
c.68846A>C (p.Asp22949Ala)
c.68705A>C (p.Asp22902Ala)
c.94748A>C (p.Asp31583Ala)
c.90146A>C (p.Asp30049Ala)
c.90143A>C (p.Asp30048Ala)
c.87185A>C (p.Asp29062Ala)
c.68801A>C (p.Asp22934Ala)
c.90296A>C (p.Asp30099Ala)
c.90293A>C (p.Asp30098Ala)
c.89726A>C (p.Asp29909Ala)
c.87068A>C (p.Asp29023Ala)
c.86987A>C (p.Asp28996Ala)
c.68750A>C (p.Asp22917Ala)
c.58604A>C (p.Asp19535Ala)
2g.178544375C>ACA349456773TTN,TTN-AS1c.88150G>T (p.Asp29384Tyr)
c.69235G>T (p.Asp23079Tyr)
c.69034G>T (p.Asp23012Tyr)
c.68659G>T (p.Asp22887Tyr)
c.95854G>T (p.Asp31952Tyr)
c.90931G>T (p.Asp30311Tyr)
n.446+20739C>A
n.2043+2014C>A
c.94951G>T (p.Asp31651Tyr)
c.68845G>T (p.Asp22949Tyr)
c.68704G>T (p.Asp22902Tyr)
c.94747G>T (p.Asp31583Tyr)
c.90145G>T (p.Asp30049Tyr)
c.90142G>T (p.Asp30048Tyr)
c.87184G>T (p.Asp29062Tyr)
c.68800G>T (p.Asp22934Tyr)
c.90295G>T (p.Asp30099Tyr)
c.90292G>T (p.Asp30098Tyr)
c.89725G>T (p.Asp29909Tyr)
c.87067G>T (p.Asp29023Tyr)
c.86986G>T (p.Asp28996Tyr)
c.68749G>T (p.Asp22917Tyr)
c.58603G>T (p.Asp19535Tyr)
2g.178544375C>GCA349456772TTN,TTN-AS1c.88150G>C (p.Asp29384His)
c.69235G>C (p.Asp23079His)
c.69034G>C (p.Asp23012His)
c.68659G>C (p.Asp22887His)
c.95854G>C (p.Asp31952His)
c.90931G>C (p.Asp30311His)
n.446+20739C>G
n.2043+2014C>G
c.94951G>C (p.Asp31651His)
c.68845G>C (p.Asp22949His)
c.68704G>C (p.Asp22902His)
c.94747G>C (p.Asp31583His)
c.90145G>C (p.Asp30049His)
c.90142G>C (p.Asp30048His)
c.87184G>C (p.Asp29062His)
c.68800G>C (p.Asp22934His)
c.90295G>C (p.Asp30099His)
c.90292G>C (p.Asp30098His)
c.89725G>C (p.Asp29909His)
c.87067G>C (p.Asp29023His)
c.86986G>C (p.Asp28996His)
c.68749G>C (p.Asp22917His)
c.58603G>C (p.Asp19535His)
2g.178544375C>TCA349456771TTN,TTN-AS1c.88150G>A (p.Asp29384Asn)
c.69235G>A (p.Asp23079Asn)
c.69034G>A (p.Asp23012Asn)
c.68659G>A (p.Asp22887Asn)
c.95854G>A (p.Asp31952Asn)
c.90931G>A (p.Asp30311Asn)
n.446+20739C>T
n.2043+2014C>T
c.94951G>A (p.Asp31651Asn)
c.68845G>A (p.Asp22949Asn)
c.68704G>A (p.Asp22902Asn)
c.94747G>A (p.Asp31583Asn)
c.90145G>A (p.Asp30049Asn)
c.90142G>A (p.Asp30048Asn)
c.87184G>A (p.Asp29062Asn)
c.68800G>A (p.Asp22934Asn)
c.90295G>A (p.Asp30099Asn)
c.90292G>A (p.Asp30098Asn)
c.89725G>A (p.Asp29909Asn)
c.87067G>A (p.Asp29023Asn)
c.86986G>A (p.Asp28996Asn)
c.68749G>A (p.Asp22917Asn)
c.58603G>A (p.Asp19535Asn)
2g.178544375_178544378delinsCCTTCA1310521553TTN,TTN-AS1c.88147_88150delinsAAGG (p.Lys29383=)
c.69232_69235delinsAAGG (p.Lys23078=)
c.69031_69034delinsAAGG (p.Lys23011=)
c.68656_68659delinsAAGG (p.Lys22886=)
c.95851_95854delinsAAGG (p.Lys31951=)
c.90928_90931delinsAAGG (p.Lys30310=)
n.446+20739_446+20742delinsCCTT
n.2043+2014_2043+2017delinsCCTT
c.94948_94951delinsAAGG (p.Lys31650=)
c.68842_68845delinsAAGG (p.Lys22948=)
c.68701_68704delinsAAGG (p.Lys22901=)
c.94744_94747delinsAAGG (p.Lys31582=)
c.90142_90145delinsAAGG (p.Lys30048=)
c.90139_90142delinsAAGG (p.Lys30047=)
c.87181_87184delinsAAGG (p.Lys29061=)
c.68797_68800delinsAAGG (p.Lys22933=)
c.90292_90295delinsAAGG (p.Lys30098=)
c.90289_90292delinsAAGG (p.Lys30097=)
c.89722_89725delinsAAGG (p.Lys29908=)
c.87064_87067delinsAAGG (p.Lys29022=)
c.86983_86986delinsAAGG (p.Lys28995=)
c.68746_68749delinsAAGG (p.Lys22916=)
c.58600_58603delinsAAGG (p.Lys19534=)
2g.178544376C>ACA349456778TTN,TTN-AS1c.88149G>T (p.Lys29383Asn)
c.69234G>T (p.Lys23078Asn)
c.69033G>T (p.Lys23011Asn)
c.68658G>T (p.Lys22886Asn)
c.95853G>T (p.Lys31951Asn)
c.90930G>T (p.Lys30310Asn)
n.446+20740C>A
n.2043+2015C>A
c.94950G>T (p.Lys31650Asn)
c.68844G>T (p.Lys22948Asn)
c.68703G>T (p.Lys22901Asn)
c.94746G>T (p.Lys31582Asn)
c.90144G>T (p.Lys30048Asn)
c.90141G>T (p.Lys30047Asn)
c.87183G>T (p.Lys29061Asn)
c.68799G>T (p.Lys22933Asn)
c.90294G>T (p.Lys30098Asn)
c.90291G>T (p.Lys30097Asn)
c.89724G>T (p.Lys29908Asn)
c.87066G>T (p.Lys29022Asn)
c.86985G>T (p.Lys28995Asn)
c.68748G>T (p.Lys22916Asn)
c.58602G>T (p.Lys19534Asn)
2g.178544376C>GCA349456789TTN,TTN-AS1c.88149G>C (p.Lys29383Asn)
c.69234G>C (p.Lys23078Asn)
c.69033G>C (p.Lys23011Asn)
c.68658G>C (p.Lys22886Asn)
c.95853G>C (p.Lys31951Asn)
c.90930G>C (p.Lys30310Asn)
n.446+20740C>G
n.2043+2015C>G
c.94950G>C (p.Lys31650Asn)
c.68844G>C (p.Lys22948Asn)
c.68703G>C (p.Lys22901Asn)
c.94746G>C (p.Lys31582Asn)
c.90144G>C (p.Lys30048Asn)
c.90141G>C (p.Lys30047Asn)
c.87183G>C (p.Lys29061Asn)
c.68799G>C (p.Lys22933Asn)
c.90294G>C (p.Lys30098Asn)
c.90291G>C (p.Lys30097Asn)
c.89724G>C (p.Lys29908Asn)
c.87066G>C (p.Lys29022Asn)
c.86985G>C (p.Lys28995Asn)
c.68748G>C (p.Lys22916Asn)
c.58602G>C (p.Lys19534Asn)
2g.178544376C>TCA430241855TTN,TTN-AS1c.88149G>A (p.Lys29383=)
c.69234G>A (p.Lys23078=)
c.69033G>A (p.Lys23011=)
c.68658G>A (p.Lys22886=)
c.95853G>A (p.Lys31951=)
c.90930G>A (p.Lys30310=)
n.446+20740C>T
n.2043+2015C>T
c.94950G>A (p.Lys31650=)
c.68844G>A (p.Lys22948=)
c.68703G>A (p.Lys22901=)
c.94746G>A (p.Lys31582=)
c.90144G>A (p.Lys30048=)
c.90141G>A (p.Lys30047=)
c.87183G>A (p.Lys29061=)
c.68799G>A (p.Lys22933=)
c.90294G>A (p.Lys30098=)
c.90291G>A (p.Lys30097=)
c.89724G>A (p.Lys29908=)
c.87066G>A (p.Lys29022=)
c.86985G>A (p.Lys28995=)
c.68748G>A (p.Lys22916=)
c.58602G>A (p.Lys19534=)
 gnomAD v4
2g.178544378_178544380delCA1986864TTN,TTN-AS1c.88147_88149del (p.Lys29383del)
c.69232_69234del (p.Lys23078del)
c.69031_69033del (p.Lys23011del)
c.68656_68658del (p.Lys22886del)
c.95851_95853del (p.Lys31951del)
c.90928_90930del (p.Lys30310del)
n.446+20742_446+20744del
n.2043+2017_2043+2019del
c.94948_94950del (p.Lys31650del)
c.68842_68844del (p.Lys22948del)
c.68701_68703del (p.Lys22901del)
c.94744_94746del (p.Lys31582del)
c.90142_90144del (p.Lys30048del)
c.90139_90141del (p.Lys30047del)
c.87181_87183del (p.Lys29061del)
c.68797_68799del (p.Lys22933del)
c.90292_90294del (p.Lys30098del)
c.90289_90291del (p.Lys30097del)
c.89722_89724del (p.Lys29908del)
c.87064_87066del (p.Lys29022del)
c.86983_86985del (p.Lys28995del)
c.68746_68748del (p.Lys22916del)
c.58600_58602del (p.Lys19534del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178544377T>ACA349456797TTN,TTN-AS1c.88148A>T (p.Lys29383Met)
c.69233A>T (p.Lys23078Met)
c.69032A>T (p.Lys23011Met)
c.68657A>T (p.Lys22886Met)
c.95852A>T (p.Lys31951Met)
c.90929A>T (p.Lys30310Met)
n.446+20741T>A
n.2043+2016T>A
c.94949A>T (p.Lys31650Met)
c.68843A>T (p.Lys22948Met)
c.68702A>T (p.Lys22901Met)
c.94745A>T (p.Lys31582Met)
c.90143A>T (p.Lys30048Met)
c.90140A>T (p.Lys30047Met)
c.87182A>T (p.Lys29061Met)
c.68798A>T (p.Lys22933Met)
c.90293A>T (p.Lys30098Met)
c.90290A>T (p.Lys30097Met)
c.89723A>T (p.Lys29908Met)
c.87065A>T (p.Lys29022Met)
c.86984A>T (p.Lys28995Met)
c.68747A>T (p.Lys22916Met)
c.58601A>T (p.Lys19534Met)
2g.178544377T>CCA349456798TTN,TTN-AS1c.88148A>G (p.Lys29383Arg)
c.69233A>G (p.Lys23078Arg)
c.69032A>G (p.Lys23011Arg)
c.68657A>G (p.Lys22886Arg)
c.95852A>G (p.Lys31951Arg)
c.90929A>G (p.Lys30310Arg)
n.446+20741T>C
n.2043+2016T>C
c.94949A>G (p.Lys31650Arg)
c.68843A>G (p.Lys22948Arg)
c.68702A>G (p.Lys22901Arg)
c.94745A>G (p.Lys31582Arg)
c.90143A>G (p.Lys30048Arg)
c.90140A>G (p.Lys30047Arg)
c.87182A>G (p.Lys29061Arg)
c.68798A>G (p.Lys22933Arg)
c.90293A>G (p.Lys30098Arg)
c.90290A>G (p.Lys30097Arg)
c.89723A>G (p.Lys29908Arg)
c.87065A>G (p.Lys29022Arg)
c.86984A>G (p.Lys28995Arg)
c.68747A>G (p.Lys22916Arg)
c.58601A>G (p.Lys19534Arg)
 gnomAD v4
2g.178544377T>GCA349456800TTN,TTN-AS1c.88148A>C (p.Lys29383Thr)
c.69233A>C (p.Lys23078Thr)
c.69032A>C (p.Lys23011Thr)
c.68657A>C (p.Lys22886Thr)
c.95852A>C (p.Lys31951Thr)
c.90929A>C (p.Lys30310Thr)
n.446+20741T>G
n.2043+2016T>G
c.94949A>C (p.Lys31650Thr)
c.68843A>C (p.Lys22948Thr)
c.68702A>C (p.Lys22901Thr)
c.94745A>C (p.Lys31582Thr)
c.90143A>C (p.Lys30048Thr)
c.90140A>C (p.Lys30047Thr)
c.87182A>C (p.Lys29061Thr)
c.68798A>C (p.Lys22933Thr)
c.90293A>C (p.Lys30098Thr)
c.90290A>C (p.Lys30097Thr)
c.89723A>C (p.Lys29908Thr)
c.87065A>C (p.Lys29022Thr)
c.86984A>C (p.Lys28995Thr)
c.68747A>C (p.Lys22916Thr)
c.58601A>C (p.Lys19534Thr)
2g.178544378delCA2577170241TTN,TTN-AS1c.88148del (p.Lys29383ArgfsTer15)
c.69233del (p.Lys23078ArgfsTer15)
c.69032del (p.Lys23011ArgfsTer15)
c.68657del (p.Lys22886ArgfsTer15)
c.95852del (p.Lys31951ArgfsTer15)
c.90929del (p.Lys30310ArgfsTer15)
n.446+20742del
n.2043+2017del
c.94949del (p.Lys31650ArgfsTer15)
c.68843del (p.Lys22948ArgfsTer15)
c.68702del (p.Lys22901ArgfsTer15)
c.94745del (p.Lys31582ArgfsTer15)
c.90143del (p.Lys30048ArgfsTer15)
c.90140del (p.Lys30047ArgfsTer15)
c.87182del (p.Lys29061ArgfsTer15)
c.68798del (p.Lys22933ArgfsTer15)
c.90293del (p.Lys30098ArgfsTer15)
c.90290del (p.Lys30097ArgfsTer15)
c.89723del (p.Lys29908ArgfsTer15)
c.87065del (p.Lys29022ArgfsTer15)
c.86984del (p.Lys28995ArgfsTer15)
c.68747del (p.Lys22916ArgfsTer15)
c.58601del (p.Lys19534ArgfsTer15)
2g.178544378T>ACA349456812TTN,TTN-AS1c.88147A>T (p.Lys29383Ter)
c.69232A>T (p.Lys23078Ter)
c.69031A>T (p.Lys23011Ter)
c.68656A>T (p.Lys22886Ter)
c.95851A>T (p.Lys31951Ter)
c.90928A>T (p.Lys30310Ter)
n.446+20742T>A
n.2043+2017T>A
c.94948A>T (p.Lys31650Ter)
c.68842A>T (p.Lys22948Ter)
c.68701A>T (p.Lys22901Ter)
c.94744A>T (p.Lys31582Ter)
c.90142A>T (p.Lys30048Ter)
c.90139A>T (p.Lys30047Ter)
c.87181A>T (p.Lys29061Ter)
c.68797A>T (p.Lys22933Ter)
c.90292A>T (p.Lys30098Ter)
c.90289A>T (p.Lys30097Ter)
c.89722A>T (p.Lys29908Ter)
c.87064A>T (p.Lys29022Ter)
c.86983A>T (p.Lys28995Ter)
c.68746A>T (p.Lys22916Ter)
c.58600A>T (p.Lys19534Ter)
2g.178544378T>CCA349456820TTN,TTN-AS1c.88147A>G (p.Lys29383Glu)
c.69232A>G (p.Lys23078Glu)
c.69031A>G (p.Lys23011Glu)
c.68656A>G (p.Lys22886Glu)
c.95851A>G (p.Lys31951Glu)
c.90928A>G (p.Lys30310Glu)
n.446+20742T>C
n.2043+2017T>C
c.94948A>G (p.Lys31650Glu)
c.68842A>G (p.Lys22948Glu)
c.68701A>G (p.Lys22901Glu)
c.94744A>G (p.Lys31582Glu)
c.90142A>G (p.Lys30048Glu)
c.90139A>G (p.Lys30047Glu)
c.87181A>G (p.Lys29061Glu)
c.68797A>G (p.Lys22933Glu)
c.90292A>G (p.Lys30098Glu)
c.90289A>G (p.Lys30097Glu)
c.89722A>G (p.Lys29908Glu)
c.87064A>G (p.Lys29022Glu)
c.86983A>G (p.Lys28995Glu)
c.68746A>G (p.Lys22916Glu)
c.58600A>G (p.Lys19534Glu)
2g.178544378T>GCA349456817TTN,TTN-AS1c.88147A>C (p.Lys29383Gln)
c.69232A>C (p.Lys23078Gln)
c.69031A>C (p.Lys23011Gln)
c.68656A>C (p.Lys22886Gln)
c.95851A>C (p.Lys31951Gln)
c.90928A>C (p.Lys30310Gln)
n.446+20742T>G
n.2043+2017T>G
c.94948A>C (p.Lys31650Gln)
c.68842A>C (p.Lys22948Gln)
c.68701A>C (p.Lys22901Gln)
c.94744A>C (p.Lys31582Gln)
c.90142A>C (p.Lys30048Gln)
c.90139A>C (p.Lys30047Gln)
c.87181A>C (p.Lys29061Gln)
c.68797A>C (p.Lys22933Gln)
c.90292A>C (p.Lys30098Gln)
c.90289A>C (p.Lys30097Gln)
c.89722A>C (p.Lys29908Gln)
c.87064A>C (p.Lys29022Gln)
c.86983A>C (p.Lys28995Gln)
c.68746A>C (p.Lys22916Gln)
c.58600A>C (p.Lys19534Gln)
2g.178544379C>ACA349456823TTN,TTN-AS1c.88146G>T (p.Glu29382Asp)
c.69231G>T (p.Glu23077Asp)
c.69030G>T (p.Glu23010Asp)
c.68655G>T (p.Glu22885Asp)
c.95850G>T (p.Glu31950Asp)
c.90927G>T (p.Glu30309Asp)
n.446+20743C>A
n.2043+2018C>A
c.94947G>T (p.Glu31649Asp)
c.68841G>T (p.Glu22947Asp)
c.68700G>T (p.Glu22900Asp)
c.94743G>T (p.Glu31581Asp)
c.90141G>T (p.Glu30047Asp)
c.90138G>T (p.Glu30046Asp)
c.87180G>T (p.Glu29060Asp)
c.68796G>T (p.Glu22932Asp)
c.90291G>T (p.Glu30097Asp)
c.90288G>T (p.Glu30096Asp)
c.89721G>T (p.Glu29907Asp)
c.87063G>T (p.Glu29021Asp)
c.86982G>T (p.Glu28994Asp)
c.68745G>T (p.Glu22915Asp)
c.58599G>T (p.Glu19533Asp)
2g.178544379C>GCA349456825TTN,TTN-AS1c.88146G>C (p.Glu29382Asp)
c.69231G>C (p.Glu23077Asp)
c.69030G>C (p.Glu23010Asp)
c.68655G>C (p.Glu22885Asp)
c.95850G>C (p.Glu31950Asp)
c.90927G>C (p.Glu30309Asp)
n.446+20743C>G
n.2043+2018C>G
c.94947G>C (p.Glu31649Asp)
c.68841G>C (p.Glu22947Asp)
c.68700G>C (p.Glu22900Asp)
c.94743G>C (p.Glu31581Asp)
c.90141G>C (p.Glu30047Asp)
c.90138G>C (p.Glu30046Asp)
c.87180G>C (p.Glu29060Asp)
c.68796G>C (p.Glu22932Asp)
c.90291G>C (p.Glu30097Asp)
c.90288G>C (p.Glu30096Asp)
c.89721G>C (p.Glu29907Asp)
c.87063G>C (p.Glu29021Asp)
c.86982G>C (p.Glu28994Asp)
c.68745G>C (p.Glu22915Asp)
c.58599G>C (p.Glu19533Asp)
2g.178544379C>TCA430241862TTN,TTN-AS1c.88146G>A (p.Glu29382=)
c.69231G>A (p.Glu23077=)
c.69030G>A (p.Glu23010=)
c.68655G>A (p.Glu22885=)
c.95850G>A (p.Glu31950=)
c.90927G>A (p.Glu30309=)
n.446+20743C>T
n.2043+2018C>T
c.94947G>A (p.Glu31649=)
c.68841G>A (p.Glu22947=)
c.68700G>A (p.Glu22900=)
c.94743G>A (p.Glu31581=)
c.90141G>A (p.Glu30047=)
c.90138G>A (p.Glu30046=)
c.87180G>A (p.Glu29060=)
c.68796G>A (p.Glu22932=)
c.90291G>A (p.Glu30097=)
c.90288G>A (p.Glu30096=)
c.89721G>A (p.Glu29907=)
c.87063G>A (p.Glu29021=)
c.86982G>A (p.Glu28994=)
c.68745G>A (p.Glu22915=)
c.58599G>A (p.Glu19533=)
2g.178544380T>ACA349456828TTN,TTN-AS1c.88145A>T (p.Glu29382Val)
c.69230A>T (p.Glu23077Val)
c.69029A>T (p.Glu23010Val)
c.68654A>T (p.Glu22885Val)
c.95849A>T (p.Glu31950Val)
c.90926A>T (p.Glu30309Val)
n.446+20744T>A
n.2043+2019T>A
c.94946A>T (p.Glu31649Val)
c.68840A>T (p.Glu22947Val)
c.68699A>T (p.Glu22900Val)
c.94742A>T (p.Glu31581Val)
c.90140A>T (p.Glu30047Val)
c.90137A>T (p.Glu30046Val)
c.87179A>T (p.Glu29060Val)
c.68795A>T (p.Glu22932Val)
c.90290A>T (p.Glu30097Val)
c.90287A>T (p.Glu30096Val)
c.89720A>T (p.Glu29907Val)
c.87062A>T (p.Glu29021Val)
c.86981A>T (p.Glu28994Val)
c.68744A>T (p.Glu22915Val)
c.58598A>T (p.Glu19533Val)
 COSMIC COSMIC COSMIC COSMIC
2g.178544380T>CCA349456831TTN,TTN-AS1c.88145A>G (p.Glu29382Gly)
c.69230A>G (p.Glu23077Gly)
c.69029A>G (p.Glu23010Gly)
c.68654A>G (p.Glu22885Gly)
c.95849A>G (p.Glu31950Gly)
c.90926A>G (p.Glu30309Gly)
n.446+20744T>C
n.2043+2019T>C
c.94946A>G (p.Glu31649Gly)
c.68840A>G (p.Glu22947Gly)
c.68699A>G (p.Glu22900Gly)
c.94742A>G (p.Glu31581Gly)
c.90140A>G (p.Glu30047Gly)
c.90137A>G (p.Glu30046Gly)
c.87179A>G (p.Glu29060Gly)
c.68795A>G (p.Glu22932Gly)
c.90290A>G (p.Glu30097Gly)
c.90287A>G (p.Glu30096Gly)
c.89720A>G (p.Glu29907Gly)
c.87062A>G (p.Glu29021Gly)
c.86981A>G (p.Glu28994Gly)
c.68744A>G (p.Glu22915Gly)
c.58598A>G (p.Glu19533Gly)
2g.178544380T>GCA349456833TTN,TTN-AS1c.88145A>C (p.Glu29382Ala)
c.69230A>C (p.Glu23077Ala)
c.69029A>C (p.Glu23010Ala)
c.68654A>C (p.Glu22885Ala)
c.95849A>C (p.Glu31950Ala)
c.90926A>C (p.Glu30309Ala)
n.446+20744T>G
n.2043+2019T>G
c.94946A>C (p.Glu31649Ala)
c.68840A>C (p.Glu22947Ala)
c.68699A>C (p.Glu22900Ala)
c.94742A>C (p.Glu31581Ala)
c.90140A>C (p.Glu30047Ala)
c.90137A>C (p.Glu30046Ala)
c.87179A>C (p.Glu29060Ala)
c.68795A>C (p.Glu22932Ala)
c.90290A>C (p.Glu30097Ala)
c.90287A>C (p.Glu30096Ala)
c.89720A>C (p.Glu29907Ala)
c.87062A>C (p.Glu29021Ala)
c.86981A>C (p.Glu28994Ala)
c.68744A>C (p.Glu22915Ala)
c.58598A>C (p.Glu19533Ala)
2g.178544381C>ACA349456843TTN,TTN-AS1c.88144G>T (p.Glu29382Ter)
c.69229G>T (p.Glu23077Ter)
c.69028G>T (p.Glu23010Ter)
c.68653G>T (p.Glu22885Ter)
c.95848G>T (p.Glu31950Ter)
c.90925G>T (p.Glu30309Ter)
n.446+20745C>A
n.2043+2020C>A
c.94945G>T (p.Glu31649Ter)
c.68839G>T (p.Glu22947Ter)
c.68698G>T (p.Glu22900Ter)
c.94741G>T (p.Glu31581Ter)
c.90139G>T (p.Glu30047Ter)
c.90136G>T (p.Glu30046Ter)
c.87178G>T (p.Glu29060Ter)
c.68794G>T (p.Glu22932Ter)
c.90289G>T (p.Glu30097Ter)
c.90286G>T (p.Glu30096Ter)
c.89719G>T (p.Glu29907Ter)
c.87061G>T (p.Glu29021Ter)
c.86980G>T (p.Glu28994Ter)
c.68743G>T (p.Glu22915Ter)
c.58597G>T (p.Glu19533Ter)
 ClinVar
2g.178544381C=CA1310521556TTN,TTN-AS1c.88144G= (p.Glu29382=)
c.69229G= (p.Glu23077=)
c.69028G= (p.Glu23010=)
c.68653G= (p.Glu22885=)
c.95848G= (p.Glu31950=)
c.90925G= (p.Glu30309=)
n.446+20745C=
n.2043+2020C=
c.94945G= (p.Glu31649=)
c.68839G= (p.Glu22947=)
c.68698G= (p.Glu22900=)
c.94741G= (p.Glu31581=)
c.90139G= (p.Glu30047=)
c.90136G= (p.Glu30046=)
c.87178G= (p.Glu29060=)
c.68794G= (p.Glu22932=)
c.90289G= (p.Glu30097=)
c.90286G= (p.Glu30096=)
c.89719G= (p.Glu29907=)
c.87061G= (p.Glu29021=)
c.86980G= (p.Glu28994=)
c.68743G= (p.Glu22915=)
c.58597G= (p.Glu19533=)
2g.178544381C>GCA349456853TTN,TTN-AS1c.88144G>C (p.Glu29382Gln)
c.69229G>C (p.Glu23077Gln)
c.69028G>C (p.Glu23010Gln)
c.68653G>C (p.Glu22885Gln)
c.95848G>C (p.Glu31950Gln)
c.90925G>C (p.Glu30309Gln)
n.446+20745C>G
n.2043+2020C>G
c.94945G>C (p.Glu31649Gln)
c.68839G>C (p.Glu22947Gln)
c.68698G>C (p.Glu22900Gln)
c.94741G>C (p.Glu31581Gln)
c.90139G>C (p.Glu30047Gln)
c.90136G>C (p.Glu30046Gln)
c.87178G>C (p.Glu29060Gln)
c.68794G>C (p.Glu22932Gln)
c.90289G>C (p.Glu30097Gln)
c.90286G>C (p.Glu30096Gln)
c.89719G>C (p.Glu29907Gln)
c.87061G>C (p.Glu29021Gln)
c.86980G>C (p.Glu28994Gln)
c.68743G>C (p.Glu22915Gln)
c.58597G>C (p.Glu19533Gln)
 COSMIC COSMIC COSMIC COSMIC

Number of alleles fetched