Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178544467G>ACA349458008TTN,TTN-AS1c.88058C>T (p.Thr29353Ile)
c.69143C>T (p.Thr23048Ile)
c.68942C>T (p.Thr22981Ile)
c.68567C>T (p.Thr22856Ile)
c.95762C>T (p.Thr31921Ile)
c.90839C>T (p.Thr30280Ile)
n.446+20831G>A
n.2043+2106G>A
c.94859C>T (p.Thr31620Ile)
c.68753C>T (p.Thr22918Ile)
c.68612C>T (p.Thr22871Ile)
c.94655C>T (p.Thr31552Ile)
c.90053C>T (p.Thr30018Ile)
c.90050C>T (p.Thr30017Ile)
c.87092C>T (p.Thr29031Ile)
c.68708C>T (p.Thr22903Ile)
c.90203C>T (p.Thr30068Ile)
c.90200C>T (p.Thr30067Ile)
c.89633C>T (p.Thr29878Ile)
c.86975C>T (p.Thr28992Ile)
c.86894C>T (p.Thr28965Ile)
c.68657C>T (p.Thr22886Ile)
c.58511C>T (p.Thr19504Ile)
2g.178544467G>CCA349458009TTN,TTN-AS1c.88058C>G (p.Thr29353Ser)
c.69143C>G (p.Thr23048Ser)
c.68942C>G (p.Thr22981Ser)
c.68567C>G (p.Thr22856Ser)
c.95762C>G (p.Thr31921Ser)
c.90839C>G (p.Thr30280Ser)
n.446+20831G>C
n.2043+2106G>C
c.94859C>G (p.Thr31620Ser)
c.68753C>G (p.Thr22918Ser)
c.68612C>G (p.Thr22871Ser)
c.94655C>G (p.Thr31552Ser)
c.90053C>G (p.Thr30018Ser)
c.90050C>G (p.Thr30017Ser)
c.87092C>G (p.Thr29031Ser)
c.68708C>G (p.Thr22903Ser)
c.90203C>G (p.Thr30068Ser)
c.90200C>G (p.Thr30067Ser)
c.89633C>G (p.Thr29878Ser)
c.86975C>G (p.Thr28992Ser)
c.86894C>G (p.Thr28965Ser)
c.68657C>G (p.Thr22886Ser)
c.58511C>G (p.Thr19504Ser)
2g.178544467G=CA1310521616TTN,TTN-AS1c.88058C= (p.Thr29353=)
c.69143C= (p.Thr23048=)
c.68942C= (p.Thr22981=)
c.68567C= (p.Thr22856=)
c.95762C= (p.Thr31921=)
c.90839C= (p.Thr30280=)
n.446+20831G=
n.2043+2106G=
c.94859C= (p.Thr31620=)
c.68753C= (p.Thr22918=)
c.68612C= (p.Thr22871=)
c.94655C= (p.Thr31552=)
c.90053C= (p.Thr30018=)
c.90050C= (p.Thr30017=)
c.87092C= (p.Thr29031=)
c.68708C= (p.Thr22903=)
c.90203C= (p.Thr30068=)
c.90200C= (p.Thr30067=)
c.89633C= (p.Thr29878=)
c.86975C= (p.Thr28992=)
c.86894C= (p.Thr28965=)
c.68657C= (p.Thr22886=)
c.58511C= (p.Thr19504=)
2g.178544467G>TCA349458010TTN,TTN-AS1c.88058C>A (p.Thr29353Asn)
c.69143C>A (p.Thr23048Asn)
c.68942C>A (p.Thr22981Asn)
c.68567C>A (p.Thr22856Asn)
c.95762C>A (p.Thr31921Asn)
c.90839C>A (p.Thr30280Asn)
n.446+20831G>T
n.2043+2106G>T
c.94859C>A (p.Thr31620Asn)
c.68753C>A (p.Thr22918Asn)
c.68612C>A (p.Thr22871Asn)
c.94655C>A (p.Thr31552Asn)
c.90053C>A (p.Thr30018Asn)
c.90050C>A (p.Thr30017Asn)
c.87092C>A (p.Thr29031Asn)
c.68708C>A (p.Thr22903Asn)
c.90203C>A (p.Thr30068Asn)
c.90200C>A (p.Thr30067Asn)
c.89633C>A (p.Thr29878Asn)
c.86975C>A (p.Thr28992Asn)
c.86894C>A (p.Thr28965Asn)
c.68657C>A (p.Thr22886Asn)
c.58511C>A (p.Thr19504Asn)
 dbSNP gnomAD v2
2g.178544468T>ACA349458011TTN,TTN-AS1c.88057A>T (p.Thr29353Ser)
c.69142A>T (p.Thr23048Ser)
c.68941A>T (p.Thr22981Ser)
c.68566A>T (p.Thr22856Ser)
c.95761A>T (p.Thr31921Ser)
c.90838A>T (p.Thr30280Ser)
n.446+20832T>A
n.2043+2107T>A
c.94858A>T (p.Thr31620Ser)
c.68752A>T (p.Thr22918Ser)
c.68611A>T (p.Thr22871Ser)
c.94654A>T (p.Thr31552Ser)
c.90052A>T (p.Thr30018Ser)
c.90049A>T (p.Thr30017Ser)
c.87091A>T (p.Thr29031Ser)
c.68707A>T (p.Thr22903Ser)
c.90202A>T (p.Thr30068Ser)
c.90199A>T (p.Thr30067Ser)
c.89632A>T (p.Thr29878Ser)
c.86974A>T (p.Thr28992Ser)
c.86893A>T (p.Thr28965Ser)
c.68656A>T (p.Thr22886Ser)
c.58510A>T (p.Thr19504Ser)
2g.178544468T>CCA349458014TTN,TTN-AS1c.88057A>G (p.Thr29353Ala)
c.69142A>G (p.Thr23048Ala)
c.68941A>G (p.Thr22981Ala)
c.68566A>G (p.Thr22856Ala)
c.95761A>G (p.Thr31921Ala)
c.90838A>G (p.Thr30280Ala)
n.446+20832T>C
n.2043+2107T>C
c.94858A>G (p.Thr31620Ala)
c.68752A>G (p.Thr22918Ala)
c.68611A>G (p.Thr22871Ala)
c.94654A>G (p.Thr31552Ala)
c.90052A>G (p.Thr30018Ala)
c.90049A>G (p.Thr30017Ala)
c.87091A>G (p.Thr29031Ala)
c.68707A>G (p.Thr22903Ala)
c.90202A>G (p.Thr30068Ala)
c.90199A>G (p.Thr30067Ala)
c.89632A>G (p.Thr29878Ala)
c.86974A>G (p.Thr28992Ala)
c.86893A>G (p.Thr28965Ala)
c.68656A>G (p.Thr22886Ala)
c.58510A>G (p.Thr19504Ala)
2g.178544468T>GCA349458021TTN,TTN-AS1c.88057A>C (p.Thr29353Pro)
c.69142A>C (p.Thr23048Pro)
c.68941A>C (p.Thr22981Pro)
c.68566A>C (p.Thr22856Pro)
c.95761A>C (p.Thr31921Pro)
c.90838A>C (p.Thr30280Pro)
n.446+20832T>G
n.2043+2107T>G
c.94858A>C (p.Thr31620Pro)
c.68752A>C (p.Thr22918Pro)
c.68611A>C (p.Thr22871Pro)
c.94654A>C (p.Thr31552Pro)
c.90052A>C (p.Thr30018Pro)
c.90049A>C (p.Thr30017Pro)
c.87091A>C (p.Thr29031Pro)
c.68707A>C (p.Thr22903Pro)
c.90202A>C (p.Thr30068Pro)
c.90199A>C (p.Thr30067Pro)
c.89632A>C (p.Thr29878Pro)
c.86974A>C (p.Thr28992Pro)
c.86893A>C (p.Thr28965Pro)
c.68656A>C (p.Thr22886Pro)
c.58510A>C (p.Thr19504Pro)
2g.178544469A>CCA349458022TTN,TTN-AS1c.88056T>G (p.Asp29352Glu)
c.69141T>G (p.Asp23047Glu)
c.68940T>G (p.Asp22980Glu)
c.68565T>G (p.Asp22855Glu)
c.95760T>G (p.Asp31920Glu)
c.90837T>G (p.Asp30279Glu)
n.446+20833A>C
n.2043+2108A>C
c.94857T>G (p.Asp31619Glu)
c.68751T>G (p.Asp22917Glu)
c.68610T>G (p.Asp22870Glu)
c.94653T>G (p.Asp31551Glu)
c.90051T>G (p.Asp30017Glu)
c.90048T>G (p.Asp30016Glu)
c.87090T>G (p.Asp29030Glu)
c.68706T>G (p.Asp22902Glu)
c.90201T>G (p.Asp30067Glu)
c.90198T>G (p.Asp30066Glu)
c.89631T>G (p.Asp29877Glu)
c.86973T>G (p.Asp28991Glu)
c.86892T>G (p.Asp28964Glu)
c.68655T>G (p.Asp22885Glu)
c.58509T>G (p.Asp19503Glu)
2g.178544469A>GCA430242127TTN,TTN-AS1c.88056T>C (p.Asp29352=)
c.69141T>C (p.Asp23047=)
c.68940T>C (p.Asp22980=)
c.68565T>C (p.Asp22855=)
c.95760T>C (p.Asp31920=)
c.90837T>C (p.Asp30279=)
n.446+20833A>G
n.2043+2108A>G
c.94857T>C (p.Asp31619=)
c.68751T>C (p.Asp22917=)
c.68610T>C (p.Asp22870=)
c.94653T>C (p.Asp31551=)
c.90051T>C (p.Asp30017=)
c.90048T>C (p.Asp30016=)
c.87090T>C (p.Asp29030=)
c.68706T>C (p.Asp22902=)
c.90201T>C (p.Asp30067=)
c.90198T>C (p.Asp30066=)
c.89631T>C (p.Asp29877=)
c.86973T>C (p.Asp28991=)
c.86892T>C (p.Asp28964=)
c.68655T>C (p.Asp22885=)
c.58509T>C (p.Asp19503=)
2g.178544469A>TCA349458025TTN,TTN-AS1c.88056T>A (p.Asp29352Glu)
c.69141T>A (p.Asp23047Glu)
c.68940T>A (p.Asp22980Glu)
c.68565T>A (p.Asp22855Glu)
c.95760T>A (p.Asp31920Glu)
c.90837T>A (p.Asp30279Glu)
n.446+20833A>T
n.2043+2108A>T
c.94857T>A (p.Asp31619Glu)
c.68751T>A (p.Asp22917Glu)
c.68610T>A (p.Asp22870Glu)
c.94653T>A (p.Asp31551Glu)
c.90051T>A (p.Asp30017Glu)
c.90048T>A (p.Asp30016Glu)
c.87090T>A (p.Asp29030Glu)
c.68706T>A (p.Asp22902Glu)
c.90201T>A (p.Asp30067Glu)
c.90198T>A (p.Asp30066Glu)
c.89631T>A (p.Asp29877Glu)
c.86973T>A (p.Asp28991Glu)
c.86892T>A (p.Asp28964Glu)
c.68655T>A (p.Asp22885Glu)
c.58509T>A (p.Asp19503Glu)
2g.178544470T>ACA349458059TTN,TTN-AS1c.88055A>T (p.Asp29352Val)
c.69140A>T (p.Asp23047Val)
c.68939A>T (p.Asp22980Val)
c.68564A>T (p.Asp22855Val)
c.95759A>T (p.Asp31920Val)
c.90836A>T (p.Asp30279Val)
n.446+20834T>A
n.2043+2109T>A
c.94856A>T (p.Asp31619Val)
c.68750A>T (p.Asp22917Val)
c.68609A>T (p.Asp22870Val)
c.94652A>T (p.Asp31551Val)
c.90050A>T (p.Asp30017Val)
c.90047A>T (p.Asp30016Val)
c.87089A>T (p.Asp29030Val)
c.68705A>T (p.Asp22902Val)
c.90200A>T (p.Asp30067Val)
c.90197A>T (p.Asp30066Val)
c.89630A>T (p.Asp29877Val)
c.86972A>T (p.Asp28991Val)
c.86891A>T (p.Asp28964Val)
c.68654A>T (p.Asp22885Val)
c.58508A>T (p.Asp19503Val)
2g.178544470T>CCA349458052TTN,TTN-AS1c.88055A>G (p.Asp29352Gly)
c.69140A>G (p.Asp23047Gly)
c.68939A>G (p.Asp22980Gly)
c.68564A>G (p.Asp22855Gly)
c.95759A>G (p.Asp31920Gly)
c.90836A>G (p.Asp30279Gly)
n.446+20834T>C
n.2043+2109T>C
c.94856A>G (p.Asp31619Gly)
c.68750A>G (p.Asp22917Gly)
c.68609A>G (p.Asp22870Gly)
c.94652A>G (p.Asp31551Gly)
c.90050A>G (p.Asp30017Gly)
c.90047A>G (p.Asp30016Gly)
c.87089A>G (p.Asp29030Gly)
c.68705A>G (p.Asp22902Gly)
c.90200A>G (p.Asp30067Gly)
c.90197A>G (p.Asp30066Gly)
c.89630A>G (p.Asp29877Gly)
c.86972A>G (p.Asp28991Gly)
c.86891A>G (p.Asp28964Gly)
c.68654A>G (p.Asp22885Gly)
c.58508A>G (p.Asp19503Gly)
 gnomAD v4
2g.178544470T>GCA349458030TTN,TTN-AS1c.88055A>C (p.Asp29352Ala)
c.69140A>C (p.Asp23047Ala)
c.68939A>C (p.Asp22980Ala)
c.68564A>C (p.Asp22855Ala)
c.95759A>C (p.Asp31920Ala)
c.90836A>C (p.Asp30279Ala)
n.446+20834T>G
n.2043+2109T>G
c.94856A>C (p.Asp31619Ala)
c.68750A>C (p.Asp22917Ala)
c.68609A>C (p.Asp22870Ala)
c.94652A>C (p.Asp31551Ala)
c.90050A>C (p.Asp30017Ala)
c.90047A>C (p.Asp30016Ala)
c.87089A>C (p.Asp29030Ala)
c.68705A>C (p.Asp22902Ala)
c.90200A>C (p.Asp30067Ala)
c.90197A>C (p.Asp30066Ala)
c.89630A>C (p.Asp29877Ala)
c.86972A>C (p.Asp28991Ala)
c.86891A>C (p.Asp28964Ala)
c.68654A>C (p.Asp22885Ala)
c.58508A>C (p.Asp19503Ala)
2g.178544471C>ACA349458067TTN,TTN-AS1c.88054G>T (p.Asp29352Tyr)
c.69139G>T (p.Asp23047Tyr)
c.68938G>T (p.Asp22980Tyr)
c.68563G>T (p.Asp22855Tyr)
c.95758G>T (p.Asp31920Tyr)
c.90835G>T (p.Asp30279Tyr)
n.446+20835C>A
n.2043+2110C>A
c.94855G>T (p.Asp31619Tyr)
c.68749G>T (p.Asp22917Tyr)
c.68608G>T (p.Asp22870Tyr)
c.94651G>T (p.Asp31551Tyr)
c.90049G>T (p.Asp30017Tyr)
c.90046G>T (p.Asp30016Tyr)
c.87088G>T (p.Asp29030Tyr)
c.68704G>T (p.Asp22902Tyr)
c.90199G>T (p.Asp30067Tyr)
c.90196G>T (p.Asp30066Tyr)
c.89629G>T (p.Asp29877Tyr)
c.86971G>T (p.Asp28991Tyr)
c.86890G>T (p.Asp28964Tyr)
c.68653G>T (p.Asp22885Tyr)
c.58507G>T (p.Asp19503Tyr)
2g.178544471C>GCA349458085TTN,TTN-AS1c.88054G>C (p.Asp29352His)
c.69139G>C (p.Asp23047His)
c.68938G>C (p.Asp22980His)
c.68563G>C (p.Asp22855His)
c.95758G>C (p.Asp31920His)
c.90835G>C (p.Asp30279His)
n.446+20835C>G
n.2043+2110C>G
c.94855G>C (p.Asp31619His)
c.68749G>C (p.Asp22917His)
c.68608G>C (p.Asp22870His)
c.94651G>C (p.Asp31551His)
c.90049G>C (p.Asp30017His)
c.90046G>C (p.Asp30016His)
c.87088G>C (p.Asp29030His)
c.68704G>C (p.Asp22902His)
c.90199G>C (p.Asp30067His)
c.90196G>C (p.Asp30066His)
c.89629G>C (p.Asp29877His)
c.86971G>C (p.Asp28991His)
c.86890G>C (p.Asp28964His)
c.68653G>C (p.Asp22885His)
c.58507G>C (p.Asp19503His)
2g.178544471C>TCA349458075TTN,TTN-AS1c.88054G>A (p.Asp29352Asn)
c.69139G>A (p.Asp23047Asn)
c.68938G>A (p.Asp22980Asn)
c.68563G>A (p.Asp22855Asn)
c.95758G>A (p.Asp31920Asn)
c.90835G>A (p.Asp30279Asn)
n.446+20835C>T
n.2043+2110C>T
c.94855G>A (p.Asp31619Asn)
c.68749G>A (p.Asp22917Asn)
c.68608G>A (p.Asp22870Asn)
c.94651G>A (p.Asp31551Asn)
c.90049G>A (p.Asp30017Asn)
c.90046G>A (p.Asp30016Asn)
c.87088G>A (p.Asp29030Asn)
c.68704G>A (p.Asp22902Asn)
c.90199G>A (p.Asp30067Asn)
c.90196G>A (p.Asp30066Asn)
c.89629G>A (p.Asp29877Asn)
c.86971G>A (p.Asp28991Asn)
c.86890G>A (p.Asp28964Asn)
c.68653G>A (p.Asp22885Asn)
c.58507G>A (p.Asp19503Asn)
2g.178544472C>ACA430242137TTN,TTN-AS1c.88053G>T (p.Val29351=)
c.69138G>T (p.Val23046=)
c.68937G>T (p.Val22979=)
c.68562G>T (p.Val22854=)
c.95757G>T (p.Val31919=)
c.90834G>T (p.Val30278=)
n.446+20836C>A
n.2043+2111C>A
c.94854G>T (p.Val31618=)
c.68748G>T (p.Val22916=)
c.68607G>T (p.Val22869=)
c.94650G>T (p.Val31550=)
c.90048G>T (p.Val30016=)
c.90045G>T (p.Val30015=)
c.87087G>T (p.Val29029=)
c.68703G>T (p.Val22901=)
c.90198G>T (p.Val30066=)
c.90195G>T (p.Val30065=)
c.89628G>T (p.Val29876=)
c.86970G>T (p.Val28990=)
c.86889G>T (p.Val28963=)
c.68652G>T (p.Val22884=)
c.58506G>T (p.Val19502=)
2g.178544472C>GCA430242138TTN,TTN-AS1c.88053G>C (p.Val29351=)
c.69138G>C (p.Val23046=)
c.68937G>C (p.Val22979=)
c.68562G>C (p.Val22854=)
c.95757G>C (p.Val31919=)
c.90834G>C (p.Val30278=)
n.446+20836C>G
n.2043+2111C>G
c.94854G>C (p.Val31618=)
c.68748G>C (p.Val22916=)
c.68607G>C (p.Val22869=)
c.94650G>C (p.Val31550=)
c.90048G>C (p.Val30016=)
c.90045G>C (p.Val30015=)
c.87087G>C (p.Val29029=)
c.68703G>C (p.Val22901=)
c.90198G>C (p.Val30066=)
c.90195G>C (p.Val30065=)
c.89628G>C (p.Val29876=)
c.86970G>C (p.Val28990=)
c.86889G>C (p.Val28963=)
c.68652G>C (p.Val22884=)
c.58506G>C (p.Val19502=)
2g.178544472C>TCA430242139TTN,TTN-AS1c.88053G>A (p.Val29351=)
c.69138G>A (p.Val23046=)
c.68937G>A (p.Val22979=)
c.68562G>A (p.Val22854=)
c.95757G>A (p.Val31919=)
c.90834G>A (p.Val30278=)
n.446+20836C>T
n.2043+2111C>T
c.94854G>A (p.Val31618=)
c.68748G>A (p.Val22916=)
c.68607G>A (p.Val22869=)
c.94650G>A (p.Val31550=)
c.90048G>A (p.Val30016=)
c.90045G>A (p.Val30015=)
c.87087G>A (p.Val29029=)
c.68703G>A (p.Val22901=)
c.90198G>A (p.Val30066=)
c.90195G>A (p.Val30065=)
c.89628G>A (p.Val29876=)
c.86970G>A (p.Val28990=)
c.86889G>A (p.Val28963=)
c.68652G>A (p.Val22884=)
c.58506G>A (p.Val19502=)
2g.178544473A>CCA349458091TTN,TTN-AS1c.88052T>G (p.Val29351Gly)
c.69137T>G (p.Val23046Gly)
c.68936T>G (p.Val22979Gly)
c.68561T>G (p.Val22854Gly)
c.95756T>G (p.Val31919Gly)
c.90833T>G (p.Val30278Gly)
n.446+20837A>C
n.2043+2112A>C
c.94853T>G (p.Val31618Gly)
c.68747T>G (p.Val22916Gly)
c.68606T>G (p.Val22869Gly)
c.94649T>G (p.Val31550Gly)
c.90047T>G (p.Val30016Gly)
c.90044T>G (p.Val30015Gly)
c.87086T>G (p.Val29029Gly)
c.68702T>G (p.Val22901Gly)
c.90197T>G (p.Val30066Gly)
c.90194T>G (p.Val30065Gly)
c.89627T>G (p.Val29876Gly)
c.86969T>G (p.Val28990Gly)
c.86888T>G (p.Val28963Gly)
c.68651T>G (p.Val22884Gly)
c.58505T>G (p.Val19502Gly)
2g.178544473A>GCA349458100TTN,TTN-AS1c.88052T>C (p.Val29351Ala)
c.69137T>C (p.Val23046Ala)
c.68936T>C (p.Val22979Ala)
c.68561T>C (p.Val22854Ala)
c.95756T>C (p.Val31919Ala)
c.90833T>C (p.Val30278Ala)
n.446+20837A>G
n.2043+2112A>G
c.94853T>C (p.Val31618Ala)
c.68747T>C (p.Val22916Ala)
c.68606T>C (p.Val22869Ala)
c.94649T>C (p.Val31550Ala)
c.90047T>C (p.Val30016Ala)
c.90044T>C (p.Val30015Ala)
c.87086T>C (p.Val29029Ala)
c.68702T>C (p.Val22901Ala)
c.90197T>C (p.Val30066Ala)
c.90194T>C (p.Val30065Ala)
c.89627T>C (p.Val29876Ala)
c.86969T>C (p.Val28990Ala)
c.86888T>C (p.Val28963Ala)
c.68651T>C (p.Val22884Ala)
c.58505T>C (p.Val19502Ala)
2g.178544473A>TCA349458098TTN,TTN-AS1c.88052T>A (p.Val29351Glu)
c.69137T>A (p.Val23046Glu)
c.68936T>A (p.Val22979Glu)
c.68561T>A (p.Val22854Glu)
c.95756T>A (p.Val31919Glu)
c.90833T>A (p.Val30278Glu)
n.446+20837A>T
n.2043+2112A>T
c.94853T>A (p.Val31618Glu)
c.68747T>A (p.Val22916Glu)
c.68606T>A (p.Val22869Glu)
c.94649T>A (p.Val31550Glu)
c.90047T>A (p.Val30016Glu)
c.90044T>A (p.Val30015Glu)
c.87086T>A (p.Val29029Glu)
c.68702T>A (p.Val22901Glu)
c.90197T>A (p.Val30066Glu)
c.90194T>A (p.Val30065Glu)
c.89627T>A (p.Val29876Glu)
c.86969T>A (p.Val28990Glu)
c.86888T>A (p.Val28963Glu)
c.68651T>A (p.Val22884Glu)
c.58505T>A (p.Val19502Glu)
2g.178544474C>ACA349458104TTN,TTN-AS1c.88051G>T (p.Val29351Leu)
c.69136G>T (p.Val23046Leu)
c.68935G>T (p.Val22979Leu)
c.68560G>T (p.Val22854Leu)
c.95755G>T (p.Val31919Leu)
c.90832G>T (p.Val30278Leu)
n.446+20838C>A
n.2043+2113C>A
c.94852G>T (p.Val31618Leu)
c.68746G>T (p.Val22916Leu)
c.68605G>T (p.Val22869Leu)
c.94648G>T (p.Val31550Leu)
c.90046G>T (p.Val30016Leu)
c.90043G>T (p.Val30015Leu)
c.87085G>T (p.Val29029Leu)
c.68701G>T (p.Val22901Leu)
c.90196G>T (p.Val30066Leu)
c.90193G>T (p.Val30065Leu)
c.89626G>T (p.Val29876Leu)
c.86968G>T (p.Val28990Leu)
c.86887G>T (p.Val28963Leu)
c.68650G>T (p.Val22884Leu)
c.58504G>T (p.Val19502Leu)
2g.178544474C=CA1310521618TTN,TTN-AS1c.88051G= (p.Val29351=)
c.69136G= (p.Val23046=)
c.68935G= (p.Val22979=)
c.68560G= (p.Val22854=)
c.95755G= (p.Val31919=)
c.90832G= (p.Val30278=)
n.446+20838C=
n.2043+2113C=
c.94852G= (p.Val31618=)
c.68746G= (p.Val22916=)
c.68605G= (p.Val22869=)
c.94648G= (p.Val31550=)
c.90046G= (p.Val30016=)
c.90043G= (p.Val30015=)
c.87085G= (p.Val29029=)
c.68701G= (p.Val22901=)
c.90196G= (p.Val30066=)
c.90193G= (p.Val30065=)
c.89626G= (p.Val29876=)
c.86968G= (p.Val28990=)
c.86887G= (p.Val28963=)
c.68650G= (p.Val22884=)
c.58504G= (p.Val19502=)
2g.178544474C>GCA349458109TTN,TTN-AS1c.88051G>C (p.Val29351Leu)
c.69136G>C (p.Val23046Leu)
c.68935G>C (p.Val22979Leu)
c.68560G>C (p.Val22854Leu)
c.95755G>C (p.Val31919Leu)
c.90832G>C (p.Val30278Leu)
n.446+20838C>G
n.2043+2113C>G
c.94852G>C (p.Val31618Leu)
c.68746G>C (p.Val22916Leu)
c.68605G>C (p.Val22869Leu)
c.94648G>C (p.Val31550Leu)
c.90046G>C (p.Val30016Leu)
c.90043G>C (p.Val30015Leu)
c.87085G>C (p.Val29029Leu)
c.68701G>C (p.Val22901Leu)
c.90196G>C (p.Val30066Leu)
c.90193G>C (p.Val30065Leu)
c.89626G>C (p.Val29876Leu)
c.86968G>C (p.Val28990Leu)
c.86887G>C (p.Val28963Leu)
c.68650G>C (p.Val22884Leu)
c.58504G>C (p.Val19502Leu)
2g.178544474C>TCA349458122TTN,TTN-AS1c.88051G>A (p.Val29351Met)
c.69136G>A (p.Val23046Met)
c.68935G>A (p.Val22979Met)
c.68560G>A (p.Val22854Met)
c.95755G>A (p.Val31919Met)
c.90832G>A (p.Val30278Met)
n.446+20838C>T
n.2043+2113C>T
c.94852G>A (p.Val31618Met)
c.68746G>A (p.Val22916Met)
c.68605G>A (p.Val22869Met)
c.94648G>A (p.Val31550Met)
c.90046G>A (p.Val30016Met)
c.90043G>A (p.Val30015Met)
c.87085G>A (p.Val29029Met)
c.68701G>A (p.Val22901Met)
c.90196G>A (p.Val30066Met)
c.90193G>A (p.Val30065Met)
c.89626G>A (p.Val29876Met)
c.86968G>A (p.Val28990Met)
c.86887G>A (p.Val28963Met)
c.68650G>A (p.Val22884Met)
c.58504G>A (p.Val19502Met)
 dbSNP gnomAD v4
2g.178544475A>CCA430242149TTN,TTN-AS1c.88050T>G (p.Val29350=)
c.69135T>G (p.Val23045=)
c.68934T>G (p.Val22978=)
c.68559T>G (p.Val22853=)
c.95754T>G (p.Val31918=)
c.90831T>G (p.Val30277=)
n.446+20839A>C
n.2043+2114A>C
c.94851T>G (p.Val31617=)
c.68745T>G (p.Val22915=)
c.68604T>G (p.Val22868=)
c.94647T>G (p.Val31549=)
c.90045T>G (p.Val30015=)
c.90042T>G (p.Val30014=)
c.87084T>G (p.Val29028=)
c.68700T>G (p.Val22900=)
c.90195T>G (p.Val30065=)
c.90192T>G (p.Val30064=)
c.89625T>G (p.Val29875=)
c.86967T>G (p.Val28989=)
c.86886T>G (p.Val28962=)
c.68649T>G (p.Val22883=)
c.58503T>G (p.Val19501=)
2g.178544475A>GCA430242150TTN,TTN-AS1c.88050T>C (p.Val29350=)
c.69135T>C (p.Val23045=)
c.68934T>C (p.Val22978=)
c.68559T>C (p.Val22853=)
c.95754T>C (p.Val31918=)
c.90831T>C (p.Val30277=)
n.446+20839A>G
n.2043+2114A>G
c.94851T>C (p.Val31617=)
c.68745T>C (p.Val22915=)
c.68604T>C (p.Val22868=)
c.94647T>C (p.Val31549=)
c.90045T>C (p.Val30015=)
c.90042T>C (p.Val30014=)
c.87084T>C (p.Val29028=)
c.68700T>C (p.Val22900=)
c.90195T>C (p.Val30065=)
c.90192T>C (p.Val30064=)
c.89625T>C (p.Val29875=)
c.86967T>C (p.Val28989=)
c.86886T>C (p.Val28962=)
c.68649T>C (p.Val22883=)
c.58503T>C (p.Val19501=)
2g.178544475A>TCA430242152TTN,TTN-AS1c.88050T>A (p.Val29350=)
c.69135T>A (p.Val23045=)
c.68934T>A (p.Val22978=)
c.68559T>A (p.Val22853=)
c.95754T>A (p.Val31918=)
c.90831T>A (p.Val30277=)
n.446+20839A>T
n.2043+2114A>T
c.94851T>A (p.Val31617=)
c.68745T>A (p.Val22915=)
c.68604T>A (p.Val22868=)
c.94647T>A (p.Val31549=)
c.90045T>A (p.Val30015=)
c.90042T>A (p.Val30014=)
c.87084T>A (p.Val29028=)
c.68700T>A (p.Val22900=)
c.90195T>A (p.Val30065=)
c.90192T>A (p.Val30064=)
c.89625T>A (p.Val29875=)
c.86967T>A (p.Val28989=)
c.86886T>A (p.Val28962=)
c.68649T>A (p.Val22883=)
c.58503T>A (p.Val19501=)
2g.178544476A=CA1310521619TTN,TTN-AS1c.88049T= (p.Val29350=)
c.69134T= (p.Val23045=)
c.68933T= (p.Val22978=)
c.68558T= (p.Val22853=)
c.95753T= (p.Val31918=)
c.90830T= (p.Val30277=)
n.446+20840A=
n.2043+2115A=
c.94850T= (p.Val31617=)
c.68744T= (p.Val22915=)
c.68603T= (p.Val22868=)
c.94646T= (p.Val31549=)
c.90044T= (p.Val30015=)
c.90041T= (p.Val30014=)
c.87083T= (p.Val29028=)
c.68699T= (p.Val22900=)
c.90194T= (p.Val30065=)
c.90191T= (p.Val30064=)
c.89624T= (p.Val29875=)
c.86966T= (p.Val28989=)
c.86885T= (p.Val28962=)
c.68648T= (p.Val22883=)
c.58502T= (p.Val19501=)
2g.178544476A>CCA349458129TTN,TTN-AS1c.88049T>G (p.Val29350Gly)
c.69134T>G (p.Val23045Gly)
c.68933T>G (p.Val22978Gly)
c.68558T>G (p.Val22853Gly)
c.95753T>G (p.Val31918Gly)
c.90830T>G (p.Val30277Gly)
n.446+20840A>C
n.2043+2115A>C
c.94850T>G (p.Val31617Gly)
c.68744T>G (p.Val22915Gly)
c.68603T>G (p.Val22868Gly)
c.94646T>G (p.Val31549Gly)
c.90044T>G (p.Val30015Gly)
c.90041T>G (p.Val30014Gly)
c.87083T>G (p.Val29028Gly)
c.68699T>G (p.Val22900Gly)
c.90194T>G (p.Val30065Gly)
c.90191T>G (p.Val30064Gly)
c.89624T>G (p.Val29875Gly)
c.86966T>G (p.Val28989Gly)
c.86885T>G (p.Val28962Gly)
c.68648T>G (p.Val22883Gly)
c.58502T>G (p.Val19501Gly)
2g.178544476A>GCA349458139TTN,TTN-AS1c.88049T>C (p.Val29350Ala)
c.69134T>C (p.Val23045Ala)
c.68933T>C (p.Val22978Ala)
c.68558T>C (p.Val22853Ala)
c.95753T>C (p.Val31918Ala)
c.90830T>C (p.Val30277Ala)
n.446+20840A>G
n.2043+2115A>G
c.94850T>C (p.Val31617Ala)
c.68744T>C (p.Val22915Ala)
c.68603T>C (p.Val22868Ala)
c.94646T>C (p.Val31549Ala)
c.90044T>C (p.Val30015Ala)
c.90041T>C (p.Val30014Ala)
c.87083T>C (p.Val29028Ala)
c.68699T>C (p.Val22900Ala)
c.90194T>C (p.Val30065Ala)
c.90191T>C (p.Val30064Ala)
c.89624T>C (p.Val29875Ala)
c.86966T>C (p.Val28989Ala)
c.86885T>C (p.Val28962Ala)
c.68648T>C (p.Val22883Ala)
c.58502T>C (p.Val19501Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.178544476A>TCA349458140TTN,TTN-AS1c.88049T>A (p.Val29350Asp)
c.69134T>A (p.Val23045Asp)
c.68933T>A (p.Val22978Asp)
c.68558T>A (p.Val22853Asp)
c.95753T>A (p.Val31918Asp)
c.90830T>A (p.Val30277Asp)
n.446+20840A>T
n.2043+2115A>T
c.94850T>A (p.Val31617Asp)
c.68744T>A (p.Val22915Asp)
c.68603T>A (p.Val22868Asp)
c.94646T>A (p.Val31549Asp)
c.90044T>A (p.Val30015Asp)
c.90041T>A (p.Val30014Asp)
c.87083T>A (p.Val29028Asp)
c.68699T>A (p.Val22900Asp)
c.90194T>A (p.Val30065Asp)
c.90191T>A (p.Val30064Asp)
c.89624T>A (p.Val29875Asp)
c.86966T>A (p.Val28989Asp)
c.86885T>A (p.Val28962Asp)
c.68648T>A (p.Val22883Asp)
c.58502T>A (p.Val19501Asp)
2g.178544476_178544482delCA2580617927TTN,TTN-AS1c.88043_88049del (p.Pro29348LeufsTer25)
c.69128_69134del (p.Pro23043LeufsTer25)
c.68927_68933del (p.Pro22976LeufsTer25)
c.68552_68558del (p.Pro22851LeufsTer25)
c.95747_95753del (p.Pro31916LeufsTer25)
c.90824_90830del (p.Pro30275LeufsTer25)
n.446+20840_446+20846del
n.2043+2115_2043+2121del
c.94844_94850del (p.Pro31615LeufsTer25)
c.68738_68744del (p.Pro22913LeufsTer25)
c.68597_68603del (p.Pro22866LeufsTer25)
c.94640_94646del (p.Pro31547LeufsTer25)
c.90038_90044del (p.Pro30013LeufsTer25)
c.90035_90041del (p.Pro30012LeufsTer25)
c.87077_87083del (p.Pro29026LeufsTer25)
c.68693_68699del (p.Pro22898LeufsTer25)
c.90188_90194del (p.Pro30063LeufsTer25)
c.90185_90191del (p.Pro30062LeufsTer25)
c.89618_89624del (p.Pro29873LeufsTer25)
c.86960_86966del (p.Pro28987LeufsTer25)
c.86879_86885del (p.Pro28960LeufsTer25)
c.68642_68648del (p.Pro22881LeufsTer25)
c.58496_58502del (p.Pro19499LeufsTer25)
 ClinVar
2g.178544477C>ACA349458173TTN,TTN-AS1c.88048G>T (p.Val29350Phe)
c.69133G>T (p.Val23045Phe)
c.68932G>T (p.Val22978Phe)
c.68557G>T (p.Val22853Phe)
c.95752G>T (p.Val31918Phe)
c.90829G>T (p.Val30277Phe)
n.446+20841C>A
n.2043+2116C>A
c.94849G>T (p.Val31617Phe)
c.68743G>T (p.Val22915Phe)
c.68602G>T (p.Val22868Phe)
c.94645G>T (p.Val31549Phe)
c.90043G>T (p.Val30015Phe)
c.90040G>T (p.Val30014Phe)
c.87082G>T (p.Val29028Phe)
c.68698G>T (p.Val22900Phe)
c.90193G>T (p.Val30065Phe)
c.90190G>T (p.Val30064Phe)
c.89623G>T (p.Val29875Phe)
c.86965G>T (p.Val28989Phe)
c.86884G>T (p.Val28962Phe)
c.68647G>T (p.Val22883Phe)
c.58501G>T (p.Val19501Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178544477C=CA1310521621TTN,TTN-AS1c.88048G= (p.Val29350=)
c.69133G= (p.Val23045=)
c.68932G= (p.Val22978=)
c.68557G= (p.Val22853=)
c.95752G= (p.Val31918=)
c.90829G= (p.Val30277=)
n.446+20841C=
n.2043+2116C=
c.94849G= (p.Val31617=)
c.68743G= (p.Val22915=)
c.68602G= (p.Val22868=)
c.94645G= (p.Val31549=)
c.90043G= (p.Val30015=)
c.90040G= (p.Val30014=)
c.87082G= (p.Val29028=)
c.68698G= (p.Val22900=)
c.90193G= (p.Val30065=)
c.90190G= (p.Val30064=)
c.89623G= (p.Val29875=)
c.86965G= (p.Val28989=)
c.86884G= (p.Val28962=)
c.68647G= (p.Val22883=)
c.58501G= (p.Val19501=)
2g.178544477C>GCA349458175TTN,TTN-AS1c.88048G>C (p.Val29350Leu)
c.69133G>C (p.Val23045Leu)
c.68932G>C (p.Val22978Leu)
c.68557G>C (p.Val22853Leu)
c.95752G>C (p.Val31918Leu)
c.90829G>C (p.Val30277Leu)
n.446+20841C>G
n.2043+2116C>G
c.94849G>C (p.Val31617Leu)
c.68743G>C (p.Val22915Leu)
c.68602G>C (p.Val22868Leu)
c.94645G>C (p.Val31549Leu)
c.90043G>C (p.Val30015Leu)
c.90040G>C (p.Val30014Leu)
c.87082G>C (p.Val29028Leu)
c.68698G>C (p.Val22900Leu)
c.90193G>C (p.Val30065Leu)
c.90190G>C (p.Val30064Leu)
c.89623G>C (p.Val29875Leu)
c.86965G>C (p.Val28989Leu)
c.86884G>C (p.Val28962Leu)
c.68647G>C (p.Val22883Leu)
c.58501G>C (p.Val19501Leu)
2g.178544477C>TCA349458185TTN,TTN-AS1c.88048G>A (p.Val29350Ile)
c.69133G>A (p.Val23045Ile)
c.68932G>A (p.Val22978Ile)
c.68557G>A (p.Val22853Ile)
c.95752G>A (p.Val31918Ile)
c.90829G>A (p.Val30277Ile)
n.446+20841C>T
n.2043+2116C>T
c.94849G>A (p.Val31617Ile)
c.68743G>A (p.Val22915Ile)
c.68602G>A (p.Val22868Ile)
c.94645G>A (p.Val31549Ile)
c.90043G>A (p.Val30015Ile)
c.90040G>A (p.Val30014Ile)
c.87082G>A (p.Val29028Ile)
c.68698G>A (p.Val22900Ile)
c.90193G>A (p.Val30065Ile)
c.90190G>A (p.Val30064Ile)
c.89623G>A (p.Val29875Ile)
c.86965G>A (p.Val28989Ile)
c.86884G>A (p.Val28962Ile)
c.68647G>A (p.Val22883Ile)
c.58501G>A (p.Val19501Ile)
 gnomAD v4
2g.178544478T>ACA349458189TTN,TTN-AS1c.88047A>T (p.Arg29349Ser)
c.69132A>T (p.Arg23044Ser)
c.68931A>T (p.Arg22977Ser)
c.68556A>T (p.Arg22852Ser)
c.95751A>T (p.Arg31917Ser)
c.90828A>T (p.Arg30276Ser)
n.446+20842T>A
n.2043+2117T>A
c.94848A>T (p.Arg31616Ser)
c.68742A>T (p.Arg22914Ser)
c.68601A>T (p.Arg22867Ser)
c.94644A>T (p.Arg31548Ser)
c.90042A>T (p.Arg30014Ser)
c.90039A>T (p.Arg30013Ser)
c.87081A>T (p.Arg29027Ser)
c.68697A>T (p.Arg22899Ser)
c.90192A>T (p.Arg30064Ser)
c.90189A>T (p.Arg30063Ser)
c.89622A>T (p.Arg29874Ser)
c.86964A>T (p.Arg28988Ser)
c.86883A>T (p.Arg28961Ser)
c.68646A>T (p.Arg22882Ser)
c.58500A>T (p.Arg19500Ser)
2g.178544478T>CCA430242158TTN,TTN-AS1c.88047A>G (p.Arg29349=)
c.69132A>G (p.Arg23044=)
c.68931A>G (p.Arg22977=)
c.68556A>G (p.Arg22852=)
c.95751A>G (p.Arg31917=)
c.90828A>G (p.Arg30276=)
n.446+20842T>C
n.2043+2117T>C
c.94848A>G (p.Arg31616=)
c.68742A>G (p.Arg22914=)
c.68601A>G (p.Arg22867=)
c.94644A>G (p.Arg31548=)
c.90042A>G (p.Arg30014=)
c.90039A>G (p.Arg30013=)
c.87081A>G (p.Arg29027=)
c.68697A>G (p.Arg22899=)
c.90192A>G (p.Arg30064=)
c.90189A>G (p.Arg30063=)
c.89622A>G (p.Arg29874=)
c.86964A>G (p.Arg28988=)
c.86883A>G (p.Arg28961=)
c.68646A>G (p.Arg22882=)
c.58500A>G (p.Arg19500=)
2g.178544478T>GCA1986879TTN,TTN-AS1c.88047A>C (p.Arg29349Ser)
c.69132A>C (p.Arg23044Ser)
c.68931A>C (p.Arg22977Ser)
c.68556A>C (p.Arg22852Ser)
c.95751A>C (p.Arg31917Ser)
c.90828A>C (p.Arg30276Ser)
n.446+20842T>G
n.2043+2117T>G
c.94848A>C (p.Arg31616Ser)
c.68742A>C (p.Arg22914Ser)
c.68601A>C (p.Arg22867Ser)
c.94644A>C (p.Arg31548Ser)
c.90042A>C (p.Arg30014Ser)
c.90039A>C (p.Arg30013Ser)
c.87081A>C (p.Arg29027Ser)
c.68697A>C (p.Arg22899Ser)
c.90192A>C (p.Arg30064Ser)
c.90189A>C (p.Arg30063Ser)
c.89622A>C (p.Arg29874Ser)
c.86964A>C (p.Arg28988Ser)
c.86883A>C (p.Arg28961Ser)
c.68646A>C (p.Arg22882Ser)
c.58500A>C (p.Arg19500Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178544478T=CA1310521622TTN,TTN-AS1c.88047A= (p.Arg29349=)
c.69132A= (p.Arg23044=)
c.68931A= (p.Arg22977=)
c.68556A= (p.Arg22852=)
c.95751A= (p.Arg31917=)
c.90828A= (p.Arg30276=)
n.446+20842T=
n.2043+2117T=
c.94848A= (p.Arg31616=)
c.68742A= (p.Arg22914=)
c.68601A= (p.Arg22867=)
c.94644A= (p.Arg31548=)
c.90042A= (p.Arg30014=)
c.90039A= (p.Arg30013=)
c.87081A= (p.Arg29027=)
c.68697A= (p.Arg22899=)
c.90192A= (p.Arg30064=)
c.90189A= (p.Arg30063=)
c.89622A= (p.Arg29874=)
c.86964A= (p.Arg28988=)
c.86883A= (p.Arg28961=)
c.68646A= (p.Arg22882=)
c.58500A= (p.Arg19500=)
2g.178544479C>ACA349458204TTN,TTN-AS1c.88046G>T (p.Arg29349Ile)
c.69131G>T (p.Arg23044Ile)
c.68930G>T (p.Arg22977Ile)
c.68555G>T (p.Arg22852Ile)
c.95750G>T (p.Arg31917Ile)
c.90827G>T (p.Arg30276Ile)
n.446+20843C>A
n.2043+2118C>A
c.94847G>T (p.Arg31616Ile)
c.68741G>T (p.Arg22914Ile)
c.68600G>T (p.Arg22867Ile)
c.94643G>T (p.Arg31548Ile)
c.90041G>T (p.Arg30014Ile)
c.90038G>T (p.Arg30013Ile)
c.87080G>T (p.Arg29027Ile)
c.68696G>T (p.Arg22899Ile)
c.90191G>T (p.Arg30064Ile)
c.90188G>T (p.Arg30063Ile)
c.89621G>T (p.Arg29874Ile)
c.86963G>T (p.Arg28988Ile)
c.86882G>T (p.Arg28961Ile)
c.68645G>T (p.Arg22882Ile)
c.58499G>T (p.Arg19500Ile)
2g.178544479C>GCA349458203TTN,TTN-AS1c.88046G>C (p.Arg29349Thr)
c.69131G>C (p.Arg23044Thr)
c.68930G>C (p.Arg22977Thr)
c.68555G>C (p.Arg22852Thr)
c.95750G>C (p.Arg31917Thr)
c.90827G>C (p.Arg30276Thr)
n.446+20843C>G
n.2043+2118C>G
c.94847G>C (p.Arg31616Thr)
c.68741G>C (p.Arg22914Thr)
c.68600G>C (p.Arg22867Thr)
c.94643G>C (p.Arg31548Thr)
c.90041G>C (p.Arg30014Thr)
c.90038G>C (p.Arg30013Thr)
c.87080G>C (p.Arg29027Thr)
c.68696G>C (p.Arg22899Thr)
c.90191G>C (p.Arg30064Thr)
c.90188G>C (p.Arg30063Thr)
c.89621G>C (p.Arg29874Thr)
c.86963G>C (p.Arg28988Thr)
c.86882G>C (p.Arg28961Thr)
c.68645G>C (p.Arg22882Thr)
c.58499G>C (p.Arg19500Thr)
2g.178544479C>TCA349458202TTN,TTN-AS1c.88046G>A (p.Arg29349Lys)
c.69131G>A (p.Arg23044Lys)
c.68930G>A (p.Arg22977Lys)
c.68555G>A (p.Arg22852Lys)
c.95750G>A (p.Arg31917Lys)
c.90827G>A (p.Arg30276Lys)
n.446+20843C>T
n.2043+2118C>T
c.94847G>A (p.Arg31616Lys)
c.68741G>A (p.Arg22914Lys)
c.68600G>A (p.Arg22867Lys)
c.94643G>A (p.Arg31548Lys)
c.90041G>A (p.Arg30014Lys)
c.90038G>A (p.Arg30013Lys)
c.87080G>A (p.Arg29027Lys)
c.68696G>A (p.Arg22899Lys)
c.90191G>A (p.Arg30064Lys)
c.90188G>A (p.Arg30063Lys)
c.89621G>A (p.Arg29874Lys)
c.86963G>A (p.Arg28988Lys)
c.86882G>A (p.Arg28961Lys)
c.68645G>A (p.Arg22882Lys)
c.58499G>A (p.Arg19500Lys)
2g.178544480T>ACA349458205TTN,TTN-AS1c.88045A>T (p.Arg29349Ter)
c.69130A>T (p.Arg23044Ter)
c.68929A>T (p.Arg22977Ter)
c.68554A>T (p.Arg22852Ter)
c.95749A>T (p.Arg31917Ter)
c.90826A>T (p.Arg30276Ter)
n.446+20844T>A
n.2043+2119T>A
c.94846A>T (p.Arg31616Ter)
c.68740A>T (p.Arg22914Ter)
c.68599A>T (p.Arg22867Ter)
c.94642A>T (p.Arg31548Ter)
c.90040A>T (p.Arg30014Ter)
c.90037A>T (p.Arg30013Ter)
c.87079A>T (p.Arg29027Ter)
c.68695A>T (p.Arg22899Ter)
c.90190A>T (p.Arg30064Ter)
c.90187A>T (p.Arg30063Ter)
c.89620A>T (p.Arg29874Ter)
c.86962A>T (p.Arg28988Ter)
c.86881A>T (p.Arg28961Ter)
c.68644A>T (p.Arg22882Ter)
c.58498A>T (p.Arg19500Ter)
2g.178544480T>CCA349458206TTN,TTN-AS1c.88045A>G (p.Arg29349Gly)
c.69130A>G (p.Arg23044Gly)
c.68929A>G (p.Arg22977Gly)
c.68554A>G (p.Arg22852Gly)
c.95749A>G (p.Arg31917Gly)
c.90826A>G (p.Arg30276Gly)
n.446+20844T>C
n.2043+2119T>C
c.94846A>G (p.Arg31616Gly)
c.68740A>G (p.Arg22914Gly)
c.68599A>G (p.Arg22867Gly)
c.94642A>G (p.Arg31548Gly)
c.90040A>G (p.Arg30014Gly)
c.90037A>G (p.Arg30013Gly)
c.87079A>G (p.Arg29027Gly)
c.68695A>G (p.Arg22899Gly)
c.90190A>G (p.Arg30064Gly)
c.90187A>G (p.Arg30063Gly)
c.89620A>G (p.Arg29874Gly)
c.86962A>G (p.Arg28988Gly)
c.86881A>G (p.Arg28961Gly)
c.68644A>G (p.Arg22882Gly)
c.58498A>G (p.Arg19500Gly)
2g.178544480T>GCA430242166TTN,TTN-AS1c.88045A>C (p.Arg29349=)
c.69130A>C (p.Arg23044=)
c.68929A>C (p.Arg22977=)
c.68554A>C (p.Arg22852=)
c.95749A>C (p.Arg31917=)
c.90826A>C (p.Arg30276=)
n.446+20844T>G
n.2043+2119T>G
c.94846A>C (p.Arg31616=)
c.68740A>C (p.Arg22914=)
c.68599A>C (p.Arg22867=)
c.94642A>C (p.Arg31548=)
c.90040A>C (p.Arg30014=)
c.90037A>C (p.Arg30013=)
c.87079A>C (p.Arg29027=)
c.68695A>C (p.Arg22899=)
c.90190A>C (p.Arg30064=)
c.90187A>C (p.Arg30063=)
c.89620A>C (p.Arg29874=)
c.86962A>C (p.Arg28988=)
c.86881A>C (p.Arg28961=)
c.68644A>C (p.Arg22882=)
c.58498A>C (p.Arg19500=)
2g.178544481T>ACA60970682TTN,TTN-AS1c.88044A>T (p.Pro29348=)
c.69129A>T (p.Pro23043=)
c.68928A>T (p.Pro22976=)
c.68553A>T (p.Pro22851=)
c.95748A>T (p.Pro31916=)
c.90825A>T (p.Pro30275=)
n.446+20845T>A
n.2043+2120T>A
c.94845A>T (p.Pro31615=)
c.68739A>T (p.Pro22913=)
c.68598A>T (p.Pro22866=)
c.94641A>T (p.Pro31547=)
c.90039A>T (p.Pro30013=)
c.90036A>T (p.Pro30012=)
c.87078A>T (p.Pro29026=)
c.68694A>T (p.Pro22898=)
c.90189A>T (p.Pro30063=)
c.90186A>T (p.Pro30062=)
c.89619A>T (p.Pro29873=)
c.86961A>T (p.Pro28987=)
c.86880A>T (p.Pro28960=)
c.68643A>T (p.Pro22881=)
c.58497A>T (p.Pro19499=)
 ClinVar dbSNP gnomAD v4
2g.178544481T>CCA430242170TTN,TTN-AS1c.88044A>G (p.Pro29348=)
c.69129A>G (p.Pro23043=)
c.68928A>G (p.Pro22976=)
c.68553A>G (p.Pro22851=)
c.95748A>G (p.Pro31916=)
c.90825A>G (p.Pro30275=)
n.446+20845T>C
n.2043+2120T>C
c.94845A>G (p.Pro31615=)
c.68739A>G (p.Pro22913=)
c.68598A>G (p.Pro22866=)
c.94641A>G (p.Pro31547=)
c.90039A>G (p.Pro30013=)
c.90036A>G (p.Pro30012=)
c.87078A>G (p.Pro29026=)
c.68694A>G (p.Pro22898=)
c.90189A>G (p.Pro30063=)
c.90186A>G (p.Pro30062=)
c.89619A>G (p.Pro29873=)
c.86961A>G (p.Pro28987=)
c.86880A>G (p.Pro28960=)
c.68643A>G (p.Pro22881=)
c.58497A>G (p.Pro19499=)

Number of alleles fetched