Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178544327T>ACA349456170TTN,TTN-AS1c.88198A>T (p.Thr29400Ser)
c.69283A>T (p.Thr23095Ser)
c.69082A>T (p.Thr23028Ser)
c.68707A>T (p.Thr22903Ser)
c.95902A>T (p.Thr31968Ser)
c.90979A>T (p.Thr30327Ser)
n.446+20691T>A
n.2043+1966T>A
c.94999A>T (p.Thr31667Ser)
c.68893A>T (p.Thr22965Ser)
c.68752A>T (p.Thr22918Ser)
c.94795A>T (p.Thr31599Ser)
c.90193A>T (p.Thr30065Ser)
c.90190A>T (p.Thr30064Ser)
c.87232A>T (p.Thr29078Ser)
c.68848A>T (p.Thr22950Ser)
c.90343A>T (p.Thr30115Ser)
c.90340A>T (p.Thr30114Ser)
c.89773A>T (p.Thr29925Ser)
c.87115A>T (p.Thr29039Ser)
c.87034A>T (p.Thr29012Ser)
c.68797A>T (p.Thr22933Ser)
c.58651A>T (p.Thr19551Ser)
2g.178544327T>CCA349456165TTN,TTN-AS1c.88198A>G (p.Thr29400Ala)
c.69283A>G (p.Thr23095Ala)
c.69082A>G (p.Thr23028Ala)
c.68707A>G (p.Thr22903Ala)
c.95902A>G (p.Thr31968Ala)
c.90979A>G (p.Thr30327Ala)
n.446+20691T>C
n.2043+1966T>C
c.94999A>G (p.Thr31667Ala)
c.68893A>G (p.Thr22965Ala)
c.68752A>G (p.Thr22918Ala)
c.94795A>G (p.Thr31599Ala)
c.90193A>G (p.Thr30065Ala)
c.90190A>G (p.Thr30064Ala)
c.87232A>G (p.Thr29078Ala)
c.68848A>G (p.Thr22950Ala)
c.90343A>G (p.Thr30115Ala)
c.90340A>G (p.Thr30114Ala)
c.89773A>G (p.Thr29925Ala)
c.87115A>G (p.Thr29039Ala)
c.87034A>G (p.Thr29012Ala)
c.68797A>G (p.Thr22933Ala)
c.58651A>G (p.Thr19551Ala)
2g.178544327T>GCA349456162TTN,TTN-AS1c.88198A>C (p.Thr29400Pro)
c.69283A>C (p.Thr23095Pro)
c.69082A>C (p.Thr23028Pro)
c.68707A>C (p.Thr22903Pro)
c.95902A>C (p.Thr31968Pro)
c.90979A>C (p.Thr30327Pro)
n.446+20691T>G
n.2043+1966T>G
c.94999A>C (p.Thr31667Pro)
c.68893A>C (p.Thr22965Pro)
c.68752A>C (p.Thr22918Pro)
c.94795A>C (p.Thr31599Pro)
c.90193A>C (p.Thr30065Pro)
c.90190A>C (p.Thr30064Pro)
c.87232A>C (p.Thr29078Pro)
c.68848A>C (p.Thr22950Pro)
c.90343A>C (p.Thr30115Pro)
c.90340A>C (p.Thr30114Pro)
c.89773A>C (p.Thr29925Pro)
c.87115A>C (p.Thr29039Pro)
c.87034A>C (p.Thr29012Pro)
c.68797A>C (p.Thr22933Pro)
c.58651A>C (p.Thr19551Pro)
2g.178544328A>CCA349456176TTN,TTN-AS1c.88197T>G (p.Asn29399Lys)
c.69282T>G (p.Asn23094Lys)
c.69081T>G (p.Asn23027Lys)
c.68706T>G (p.Asn22902Lys)
c.95901T>G (p.Asn31967Lys)
c.90978T>G (p.Asn30326Lys)
n.446+20692A>C
n.2043+1967A>C
c.94998T>G (p.Asn31666Lys)
c.68892T>G (p.Asn22964Lys)
c.68751T>G (p.Asn22917Lys)
c.94794T>G (p.Asn31598Lys)
c.90192T>G (p.Asn30064Lys)
c.90189T>G (p.Asn30063Lys)
c.87231T>G (p.Asn29077Lys)
c.68847T>G (p.Asn22949Lys)
c.90342T>G (p.Asn30114Lys)
c.90339T>G (p.Asn30113Lys)
c.89772T>G (p.Asn29924Lys)
c.87114T>G (p.Asn29038Lys)
c.87033T>G (p.Asn29011Lys)
c.68796T>G (p.Asn22932Lys)
c.58650T>G (p.Asn19550Lys)
2g.178544328A>GCA430241738TTN,TTN-AS1c.88197T>C (p.Asn29399=)
c.69282T>C (p.Asn23094=)
c.69081T>C (p.Asn23027=)
c.68706T>C (p.Asn22902=)
c.95901T>C (p.Asn31967=)
c.90978T>C (p.Asn30326=)
n.446+20692A>G
n.2043+1967A>G
c.94998T>C (p.Asn31666=)
c.68892T>C (p.Asn22964=)
c.68751T>C (p.Asn22917=)
c.94794T>C (p.Asn31598=)
c.90192T>C (p.Asn30064=)
c.90189T>C (p.Asn30063=)
c.87231T>C (p.Asn29077=)
c.68847T>C (p.Asn22949=)
c.90342T>C (p.Asn30114=)
c.90339T>C (p.Asn30113=)
c.89772T>C (p.Asn29924=)
c.87114T>C (p.Asn29038=)
c.87033T>C (p.Asn29011=)
c.68796T>C (p.Asn22932=)
c.58650T>C (p.Asn19550=)
2g.178544328A>TCA349456173TTN,TTN-AS1c.88197T>A (p.Asn29399Lys)
c.69282T>A (p.Asn23094Lys)
c.69081T>A (p.Asn23027Lys)
c.68706T>A (p.Asn22902Lys)
c.95901T>A (p.Asn31967Lys)
c.90978T>A (p.Asn30326Lys)
n.446+20692A>T
n.2043+1967A>T
c.94998T>A (p.Asn31666Lys)
c.68892T>A (p.Asn22964Lys)
c.68751T>A (p.Asn22917Lys)
c.94794T>A (p.Asn31598Lys)
c.90192T>A (p.Asn30064Lys)
c.90189T>A (p.Asn30063Lys)
c.87231T>A (p.Asn29077Lys)
c.68847T>A (p.Asn22949Lys)
c.90342T>A (p.Asn30114Lys)
c.90339T>A (p.Asn30113Lys)
c.89772T>A (p.Asn29924Lys)
c.87114T>A (p.Asn29038Lys)
c.87033T>A (p.Asn29011Lys)
c.68796T>A (p.Asn22932Lys)
c.58650T>A (p.Asn19550Lys)
2g.178544329T>ACA349456180TTN,TTN-AS1c.88196A>T (p.Asn29399Ile)
c.69281A>T (p.Asn23094Ile)
c.69080A>T (p.Asn23027Ile)
c.68705A>T (p.Asn22902Ile)
c.95900A>T (p.Asn31967Ile)
c.90977A>T (p.Asn30326Ile)
n.446+20693T>A
n.2043+1968T>A
c.94997A>T (p.Asn31666Ile)
c.68891A>T (p.Asn22964Ile)
c.68750A>T (p.Asn22917Ile)
c.94793A>T (p.Asn31598Ile)
c.90191A>T (p.Asn30064Ile)
c.90188A>T (p.Asn30063Ile)
c.87230A>T (p.Asn29077Ile)
c.68846A>T (p.Asn22949Ile)
c.90341A>T (p.Asn30114Ile)
c.90338A>T (p.Asn30113Ile)
c.89771A>T (p.Asn29924Ile)
c.87113A>T (p.Asn29038Ile)
c.87032A>T (p.Asn29011Ile)
c.68795A>T (p.Asn22932Ile)
c.58649A>T (p.Asn19550Ile)
2g.178544329T>CCA349456182TTN,TTN-AS1c.88196A>G (p.Asn29399Ser)
c.69281A>G (p.Asn23094Ser)
c.69080A>G (p.Asn23027Ser)
c.68705A>G (p.Asn22902Ser)
c.95900A>G (p.Asn31967Ser)
c.90977A>G (p.Asn30326Ser)
n.446+20693T>C
n.2043+1968T>C
c.94997A>G (p.Asn31666Ser)
c.68891A>G (p.Asn22964Ser)
c.68750A>G (p.Asn22917Ser)
c.94793A>G (p.Asn31598Ser)
c.90191A>G (p.Asn30064Ser)
c.90188A>G (p.Asn30063Ser)
c.87230A>G (p.Asn29077Ser)
c.68846A>G (p.Asn22949Ser)
c.90341A>G (p.Asn30114Ser)
c.90338A>G (p.Asn30113Ser)
c.89771A>G (p.Asn29924Ser)
c.87113A>G (p.Asn29038Ser)
c.87032A>G (p.Asn29011Ser)
c.68795A>G (p.Asn22932Ser)
c.58649A>G (p.Asn19550Ser)
2g.178544329T>GCA349456183TTN,TTN-AS1c.88196A>C (p.Asn29399Thr)
c.69281A>C (p.Asn23094Thr)
c.69080A>C (p.Asn23027Thr)
c.68705A>C (p.Asn22902Thr)
c.95900A>C (p.Asn31967Thr)
c.90977A>C (p.Asn30326Thr)
n.446+20693T>G
n.2043+1968T>G
c.94997A>C (p.Asn31666Thr)
c.68891A>C (p.Asn22964Thr)
c.68750A>C (p.Asn22917Thr)
c.94793A>C (p.Asn31598Thr)
c.90191A>C (p.Asn30064Thr)
c.90188A>C (p.Asn30063Thr)
c.87230A>C (p.Asn29077Thr)
c.68846A>C (p.Asn22949Thr)
c.90341A>C (p.Asn30114Thr)
c.90338A>C (p.Asn30113Thr)
c.89771A>C (p.Asn29924Thr)
c.87113A>C (p.Asn29038Thr)
c.87032A>C (p.Asn29011Thr)
c.68795A>C (p.Asn22932Thr)
c.58649A>C (p.Asn19550Thr)
2g.178544330T>ACA349456184TTN,TTN-AS1c.88195A>T (p.Asn29399Tyr)
c.69280A>T (p.Asn23094Tyr)
c.69079A>T (p.Asn23027Tyr)
c.68704A>T (p.Asn22902Tyr)
c.95899A>T (p.Asn31967Tyr)
c.90976A>T (p.Asn30326Tyr)
n.446+20694T>A
n.2043+1969T>A
c.94996A>T (p.Asn31666Tyr)
c.68890A>T (p.Asn22964Tyr)
c.68749A>T (p.Asn22917Tyr)
c.94792A>T (p.Asn31598Tyr)
c.90190A>T (p.Asn30064Tyr)
c.90187A>T (p.Asn30063Tyr)
c.87229A>T (p.Asn29077Tyr)
c.68845A>T (p.Asn22949Tyr)
c.90340A>T (p.Asn30114Tyr)
c.90337A>T (p.Asn30113Tyr)
c.89770A>T (p.Asn29924Tyr)
c.87112A>T (p.Asn29038Tyr)
c.87031A>T (p.Asn29011Tyr)
c.68794A>T (p.Asn22932Tyr)
c.58648A>T (p.Asn19550Tyr)
2g.178544330T>CCA349456185TTN,TTN-AS1c.88195A>G (p.Asn29399Asp)
c.69280A>G (p.Asn23094Asp)
c.69079A>G (p.Asn23027Asp)
c.68704A>G (p.Asn22902Asp)
c.95899A>G (p.Asn31967Asp)
c.90976A>G (p.Asn30326Asp)
n.446+20694T>C
n.2043+1969T>C
c.94996A>G (p.Asn31666Asp)
c.68890A>G (p.Asn22964Asp)
c.68749A>G (p.Asn22917Asp)
c.94792A>G (p.Asn31598Asp)
c.90190A>G (p.Asn30064Asp)
c.90187A>G (p.Asn30063Asp)
c.87229A>G (p.Asn29077Asp)
c.68845A>G (p.Asn22949Asp)
c.90340A>G (p.Asn30114Asp)
c.90337A>G (p.Asn30113Asp)
c.89770A>G (p.Asn29924Asp)
c.87112A>G (p.Asn29038Asp)
c.87031A>G (p.Asn29011Asp)
c.68794A>G (p.Asn22932Asp)
c.58648A>G (p.Asn19550Asp)
2g.178544330T>GCA349456186TTN,TTN-AS1c.88195A>C (p.Asn29399His)
c.69280A>C (p.Asn23094His)
c.69079A>C (p.Asn23027His)
c.68704A>C (p.Asn22902His)
c.95899A>C (p.Asn31967His)
c.90976A>C (p.Asn30326His)
n.446+20694T>G
n.2043+1969T>G
c.94996A>C (p.Asn31666His)
c.68890A>C (p.Asn22964His)
c.68749A>C (p.Asn22917His)
c.94792A>C (p.Asn31598His)
c.90190A>C (p.Asn30064His)
c.90187A>C (p.Asn30063His)
c.87229A>C (p.Asn29077His)
c.68845A>C (p.Asn22949His)
c.90340A>C (p.Asn30114His)
c.90337A>C (p.Asn30113His)
c.89770A>C (p.Asn29924His)
c.87112A>C (p.Asn29038His)
c.87031A>C (p.Asn29011His)
c.68794A>C (p.Asn22932His)
c.58648A>C (p.Asn19550His)
2g.178544331T>ACA349456188TTN,TTN-AS1c.88194A>T (p.Arg29398Ser)
c.69279A>T (p.Arg23093Ser)
c.69078A>T (p.Arg23026Ser)
c.68703A>T (p.Arg22901Ser)
c.95898A>T (p.Arg31966Ser)
c.90975A>T (p.Arg30325Ser)
n.446+20695T>A
n.2043+1970T>A
c.94995A>T (p.Arg31665Ser)
c.68889A>T (p.Arg22963Ser)
c.68748A>T (p.Arg22916Ser)
c.94791A>T (p.Arg31597Ser)
c.90189A>T (p.Arg30063Ser)
c.90186A>T (p.Arg30062Ser)
c.87228A>T (p.Arg29076Ser)
c.68844A>T (p.Arg22948Ser)
c.90339A>T (p.Arg30113Ser)
c.90336A>T (p.Arg30112Ser)
c.89769A>T (p.Arg29923Ser)
c.87111A>T (p.Arg29037Ser)
c.87030A>T (p.Arg29010Ser)
c.68793A>T (p.Arg22931Ser)
c.58647A>T (p.Arg19549Ser)
2g.178544331T>CCA430241748TTN,TTN-AS1c.88194A>G (p.Arg29398=)
c.69279A>G (p.Arg23093=)
c.69078A>G (p.Arg23026=)
c.68703A>G (p.Arg22901=)
c.95898A>G (p.Arg31966=)
c.90975A>G (p.Arg30325=)
n.446+20695T>C
n.2043+1970T>C
c.94995A>G (p.Arg31665=)
c.68889A>G (p.Arg22963=)
c.68748A>G (p.Arg22916=)
c.94791A>G (p.Arg31597=)
c.90189A>G (p.Arg30063=)
c.90186A>G (p.Arg30062=)
c.87228A>G (p.Arg29076=)
c.68844A>G (p.Arg22948=)
c.90339A>G (p.Arg30113=)
c.90336A>G (p.Arg30112=)
c.89769A>G (p.Arg29923=)
c.87111A>G (p.Arg29037=)
c.87030A>G (p.Arg29010=)
c.68793A>G (p.Arg22931=)
c.58647A>G (p.Arg19549=)
2g.178544331T>GCA349456189TTN,TTN-AS1c.88194A>C (p.Arg29398Ser)
c.69279A>C (p.Arg23093Ser)
c.69078A>C (p.Arg23026Ser)
c.68703A>C (p.Arg22901Ser)
c.95898A>C (p.Arg31966Ser)
c.90975A>C (p.Arg30325Ser)
n.446+20695T>G
n.2043+1970T>G
c.94995A>C (p.Arg31665Ser)
c.68889A>C (p.Arg22963Ser)
c.68748A>C (p.Arg22916Ser)
c.94791A>C (p.Arg31597Ser)
c.90189A>C (p.Arg30063Ser)
c.90186A>C (p.Arg30062Ser)
c.87228A>C (p.Arg29076Ser)
c.68844A>C (p.Arg22948Ser)
c.90339A>C (p.Arg30113Ser)
c.90336A>C (p.Arg30112Ser)
c.89769A>C (p.Arg29923Ser)
c.87111A>C (p.Arg29037Ser)
c.87030A>C (p.Arg29010Ser)
c.68793A>C (p.Arg22931Ser)
c.58647A>C (p.Arg19549Ser)
2g.178544332delCA2662123921TTN,TTN-AS1c.88193del (p.Arg29398LysfsTer23)
c.69278del (p.Arg23093LysfsTer23)
c.69077del (p.Arg23026LysfsTer23)
c.68702del (p.Arg22901LysfsTer23)
c.95897del (p.Arg31966LysfsTer23)
c.90974del (p.Arg30325LysfsTer23)
n.446+20696del
n.2043+1971del
c.94994del (p.Arg31665LysfsTer23)
c.68888del (p.Arg22963LysfsTer23)
c.68747del (p.Arg22916LysfsTer23)
c.94790del (p.Arg31597LysfsTer23)
c.90188del (p.Arg30063LysfsTer23)
c.90185del (p.Arg30062LysfsTer23)
c.87227del (p.Arg29076LysfsTer23)
c.68843del (p.Arg22948LysfsTer23)
c.90338del (p.Arg30113LysfsTer23)
c.90335del (p.Arg30112LysfsTer23)
c.89768del (p.Arg29923LysfsTer23)
c.87110del (p.Arg29037LysfsTer23)
c.87029del (p.Arg29010LysfsTer23)
c.68792del (p.Arg22931LysfsTer23)
c.58646del (p.Arg19549LysfsTer23)
 gnomAD v4
2g.178544332C>ACA349456190TTN,TTN-AS1c.88193G>T (p.Arg29398Ile)
c.69278G>T (p.Arg23093Ile)
c.69077G>T (p.Arg23026Ile)
c.68702G>T (p.Arg22901Ile)
c.95897G>T (p.Arg31966Ile)
c.90974G>T (p.Arg30325Ile)
n.446+20696C>A
n.2043+1971C>A
c.94994G>T (p.Arg31665Ile)
c.68888G>T (p.Arg22963Ile)
c.68747G>T (p.Arg22916Ile)
c.94790G>T (p.Arg31597Ile)
c.90188G>T (p.Arg30063Ile)
c.90185G>T (p.Arg30062Ile)
c.87227G>T (p.Arg29076Ile)
c.68843G>T (p.Arg22948Ile)
c.90338G>T (p.Arg30113Ile)
c.90335G>T (p.Arg30112Ile)
c.89768G>T (p.Arg29923Ile)
c.87110G>T (p.Arg29037Ile)
c.87029G>T (p.Arg29010Ile)
c.68792G>T (p.Arg22931Ile)
c.58646G>T (p.Arg19549Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.178544332C=CA1310521513TTN,TTN-AS1c.88193G= (p.Arg29398=)
c.69278G= (p.Arg23093=)
c.69077G= (p.Arg23026=)
c.68702G= (p.Arg22901=)
c.95897G= (p.Arg31966=)
c.90974G= (p.Arg30325=)
n.446+20696C=
n.2043+1971C=
c.94994G= (p.Arg31665=)
c.68888G= (p.Arg22963=)
c.68747G= (p.Arg22916=)
c.94790G= (p.Arg31597=)
c.90188G= (p.Arg30063=)
c.90185G= (p.Arg30062=)
c.87227G= (p.Arg29076=)
c.68843G= (p.Arg22948=)
c.90338G= (p.Arg30113=)
c.90335G= (p.Arg30112=)
c.89768G= (p.Arg29923=)
c.87110G= (p.Arg29037=)
c.87029G= (p.Arg29010=)
c.68792G= (p.Arg22931=)
c.58646G= (p.Arg19549=)
2g.178544332C>GCA349456191TTN,TTN-AS1c.88193G>C (p.Arg29398Thr)
c.69278G>C (p.Arg23093Thr)
c.69077G>C (p.Arg23026Thr)
c.68702G>C (p.Arg22901Thr)
c.95897G>C (p.Arg31966Thr)
c.90974G>C (p.Arg30325Thr)
n.446+20696C>G
n.2043+1971C>G
c.94994G>C (p.Arg31665Thr)
c.68888G>C (p.Arg22963Thr)
c.68747G>C (p.Arg22916Thr)
c.94790G>C (p.Arg31597Thr)
c.90188G>C (p.Arg30063Thr)
c.90185G>C (p.Arg30062Thr)
c.87227G>C (p.Arg29076Thr)
c.68843G>C (p.Arg22948Thr)
c.90338G>C (p.Arg30113Thr)
c.90335G>C (p.Arg30112Thr)
c.89768G>C (p.Arg29923Thr)
c.87110G>C (p.Arg29037Thr)
c.87029G>C (p.Arg29010Thr)
c.68792G>C (p.Arg22931Thr)
c.58646G>C (p.Arg19549Thr)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
2g.178544332C>TCA1986856TTN,TTN-AS1c.88193G>A (p.Arg29398Lys)
c.69278G>A (p.Arg23093Lys)
c.69077G>A (p.Arg23026Lys)
c.68702G>A (p.Arg22901Lys)
c.95897G>A (p.Arg31966Lys)
c.90974G>A (p.Arg30325Lys)
n.446+20696C>T
n.2043+1971C>T
c.94994G>A (p.Arg31665Lys)
c.68888G>A (p.Arg22963Lys)
c.68747G>A (p.Arg22916Lys)
c.94790G>A (p.Arg31597Lys)
c.90188G>A (p.Arg30063Lys)
c.90185G>A (p.Arg30062Lys)
c.87227G>A (p.Arg29076Lys)
c.68843G>A (p.Arg22948Lys)
c.90338G>A (p.Arg30113Lys)
c.90335G>A (p.Arg30112Lys)
c.89768G>A (p.Arg29923Lys)
c.87110G>A (p.Arg29037Lys)
c.87029G>A (p.Arg29010Lys)
c.68792G>A (p.Arg22931Lys)
c.58646G>A (p.Arg19549Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178544333T>ACA349456192TTN,TTN-AS1c.88192A>T (p.Arg29398Ter)
c.69277A>T (p.Arg23093Ter)
c.69076A>T (p.Arg23026Ter)
c.68701A>T (p.Arg22901Ter)
c.95896A>T (p.Arg31966Ter)
c.90973A>T (p.Arg30325Ter)
n.446+20697T>A
n.2043+1972T>A
c.94993A>T (p.Arg31665Ter)
c.68887A>T (p.Arg22963Ter)
c.68746A>T (p.Arg22916Ter)
c.94789A>T (p.Arg31597Ter)
c.90187A>T (p.Arg30063Ter)
c.90184A>T (p.Arg30062Ter)
c.87226A>T (p.Arg29076Ter)
c.68842A>T (p.Arg22948Ter)
c.90337A>T (p.Arg30113Ter)
c.90334A>T (p.Arg30112Ter)
c.89767A>T (p.Arg29923Ter)
c.87109A>T (p.Arg29037Ter)
c.87028A>T (p.Arg29010Ter)
c.68791A>T (p.Arg22931Ter)
c.58645A>T (p.Arg19549Ter)
2g.178544333T>CCA349456206TTN,TTN-AS1c.88192A>G (p.Arg29398Gly)
c.69277A>G (p.Arg23093Gly)
c.69076A>G (p.Arg23026Gly)
c.68701A>G (p.Arg22901Gly)
c.95896A>G (p.Arg31966Gly)
c.90973A>G (p.Arg30325Gly)
n.446+20697T>C
n.2043+1972T>C
c.94993A>G (p.Arg31665Gly)
c.68887A>G (p.Arg22963Gly)
c.68746A>G (p.Arg22916Gly)
c.94789A>G (p.Arg31597Gly)
c.90187A>G (p.Arg30063Gly)
c.90184A>G (p.Arg30062Gly)
c.87226A>G (p.Arg29076Gly)
c.68842A>G (p.Arg22948Gly)
c.90337A>G (p.Arg30113Gly)
c.90334A>G (p.Arg30112Gly)
c.89767A>G (p.Arg29923Gly)
c.87109A>G (p.Arg29037Gly)
c.87028A>G (p.Arg29010Gly)
c.68791A>G (p.Arg22931Gly)
c.58645A>G (p.Arg19549Gly)
 COSMIC COSMIC COSMIC COSMIC
2g.178544333T>GCA430241758TTN,TTN-AS1c.88192A>C (p.Arg29398=)
c.69277A>C (p.Arg23093=)
c.69076A>C (p.Arg23026=)
c.68701A>C (p.Arg22901=)
c.95896A>C (p.Arg31966=)
c.90973A>C (p.Arg30325=)
n.446+20697T>G
n.2043+1972T>G
c.94993A>C (p.Arg31665=)
c.68887A>C (p.Arg22963=)
c.68746A>C (p.Arg22916=)
c.94789A>C (p.Arg31597=)
c.90187A>C (p.Arg30063=)
c.90184A>C (p.Arg30062=)
c.87226A>C (p.Arg29076=)
c.68842A>C (p.Arg22948=)
c.90337A>C (p.Arg30113=)
c.90334A>C (p.Arg30112=)
c.89767A>C (p.Arg29923=)
c.87109A>C (p.Arg29037=)
c.87028A>C (p.Arg29010=)
c.68791A>C (p.Arg22931=)
c.58645A>C (p.Arg19549=)
2g.178544334T>ACA430241759TTN,TTN-AS1c.88191A>T (p.Ile29397=)
c.69276A>T (p.Ile23092=)
c.69075A>T (p.Ile23025=)
c.68700A>T (p.Ile22900=)
c.95895A>T (p.Ile31965=)
c.90972A>T (p.Ile30324=)
n.446+20698T>A
n.2043+1973T>A
c.94992A>T (p.Ile31664=)
c.68886A>T (p.Ile22962=)
c.68745A>T (p.Ile22915=)
c.94788A>T (p.Ile31596=)
c.90186A>T (p.Ile30062=)
c.90183A>T (p.Ile30061=)
c.87225A>T (p.Ile29075=)
c.68841A>T (p.Ile22947=)
c.90336A>T (p.Ile30112=)
c.90333A>T (p.Ile30111=)
c.89766A>T (p.Ile29922=)
c.87108A>T (p.Ile29036=)
c.87027A>T (p.Ile29009=)
c.68790A>T (p.Ile22930=)
c.58644A>T (p.Ile19548=)
2g.178544334T>CCA349456210TTN,TTN-AS1c.88191A>G (p.Ile29397Met)
c.69276A>G (p.Ile23092Met)
c.69075A>G (p.Ile23025Met)
c.68700A>G (p.Ile22900Met)
c.95895A>G (p.Ile31965Met)
c.90972A>G (p.Ile30324Met)
n.446+20698T>C
n.2043+1973T>C
c.94992A>G (p.Ile31664Met)
c.68886A>G (p.Ile22962Met)
c.68745A>G (p.Ile22915Met)
c.94788A>G (p.Ile31596Met)
c.90186A>G (p.Ile30062Met)
c.90183A>G (p.Ile30061Met)
c.87225A>G (p.Ile29075Met)
c.68841A>G (p.Ile22947Met)
c.90336A>G (p.Ile30112Met)
c.90333A>G (p.Ile30111Met)
c.89766A>G (p.Ile29922Met)
c.87108A>G (p.Ile29036Met)
c.87027A>G (p.Ile29009Met)
c.68790A>G (p.Ile22930Met)
c.58644A>G (p.Ile19548Met)
2g.178544334T>GCA430241760TTN,TTN-AS1c.88191A>C (p.Ile29397=)
c.69276A>C (p.Ile23092=)
c.69075A>C (p.Ile23025=)
c.68700A>C (p.Ile22900=)
c.95895A>C (p.Ile31965=)
c.90972A>C (p.Ile30324=)
n.446+20698T>G
n.2043+1973T>G
c.94992A>C (p.Ile31664=)
c.68886A>C (p.Ile22962=)
c.68745A>C (p.Ile22915=)
c.94788A>C (p.Ile31596=)
c.90186A>C (p.Ile30062=)
c.90183A>C (p.Ile30061=)
c.87225A>C (p.Ile29075=)
c.68841A>C (p.Ile22947=)
c.90336A>C (p.Ile30112=)
c.90333A>C (p.Ile30111=)
c.89766A>C (p.Ile29922=)
c.87108A>C (p.Ile29036=)
c.87027A>C (p.Ile29009=)
c.68790A>C (p.Ile22930=)
c.58644A>C (p.Ile19548=)
2g.178544335A>CCA349456211TTN,TTN-AS1c.88190T>G (p.Ile29397Arg)
c.69275T>G (p.Ile23092Arg)
c.69074T>G (p.Ile23025Arg)
c.68699T>G (p.Ile22900Arg)
c.95894T>G (p.Ile31965Arg)
c.90971T>G (p.Ile30324Arg)
n.446+20699A>C
n.2043+1974A>C
c.94991T>G (p.Ile31664Arg)
c.68885T>G (p.Ile22962Arg)
c.68744T>G (p.Ile22915Arg)
c.94787T>G (p.Ile31596Arg)
c.90185T>G (p.Ile30062Arg)
c.90182T>G (p.Ile30061Arg)
c.87224T>G (p.Ile29075Arg)
c.68840T>G (p.Ile22947Arg)
c.90335T>G (p.Ile30112Arg)
c.90332T>G (p.Ile30111Arg)
c.89765T>G (p.Ile29922Arg)
c.87107T>G (p.Ile29036Arg)
c.87026T>G (p.Ile29009Arg)
c.68789T>G (p.Ile22930Arg)
c.58643T>G (p.Ile19548Arg)
2g.178544335A>GCA349456238TTN,TTN-AS1c.88190T>C (p.Ile29397Thr)
c.69275T>C (p.Ile23092Thr)
c.69074T>C (p.Ile23025Thr)
c.68699T>C (p.Ile22900Thr)
c.95894T>C (p.Ile31965Thr)
c.90971T>C (p.Ile30324Thr)
n.446+20699A>G
n.2043+1974A>G
c.94991T>C (p.Ile31664Thr)
c.68885T>C (p.Ile22962Thr)
c.68744T>C (p.Ile22915Thr)
c.94787T>C (p.Ile31596Thr)
c.90185T>C (p.Ile30062Thr)
c.90182T>C (p.Ile30061Thr)
c.87224T>C (p.Ile29075Thr)
c.68840T>C (p.Ile22947Thr)
c.90335T>C (p.Ile30112Thr)
c.90332T>C (p.Ile30111Thr)
c.89765T>C (p.Ile29922Thr)
c.87107T>C (p.Ile29036Thr)
c.87026T>C (p.Ile29009Thr)
c.68789T>C (p.Ile22930Thr)
c.58643T>C (p.Ile19548Thr)
2g.178544335A>TCA349456241TTN,TTN-AS1c.88190T>A (p.Ile29397Lys)
c.69275T>A (p.Ile23092Lys)
c.69074T>A (p.Ile23025Lys)
c.68699T>A (p.Ile22900Lys)
c.95894T>A (p.Ile31965Lys)
c.90971T>A (p.Ile30324Lys)
n.446+20699A>T
n.2043+1974A>T
c.94991T>A (p.Ile31664Lys)
c.68885T>A (p.Ile22962Lys)
c.68744T>A (p.Ile22915Lys)
c.94787T>A (p.Ile31596Lys)
c.90185T>A (p.Ile30062Lys)
c.90182T>A (p.Ile30061Lys)
c.87224T>A (p.Ile29075Lys)
c.68840T>A (p.Ile22947Lys)
c.90335T>A (p.Ile30112Lys)
c.90332T>A (p.Ile30111Lys)
c.89765T>A (p.Ile29922Lys)
c.87107T>A (p.Ile29036Lys)
c.87026T>A (p.Ile29009Lys)
c.68789T>A (p.Ile22930Lys)
c.58643T>A (p.Ile19548Lys)
2g.178544336T>ACA349456249TTN,TTN-AS1c.88189A>T (p.Ile29397Leu)
c.69274A>T (p.Ile23092Leu)
c.69073A>T (p.Ile23025Leu)
c.68698A>T (p.Ile22900Leu)
c.95893A>T (p.Ile31965Leu)
c.90970A>T (p.Ile30324Leu)
n.446+20700T>A
n.2043+1975T>A
c.94990A>T (p.Ile31664Leu)
c.68884A>T (p.Ile22962Leu)
c.68743A>T (p.Ile22915Leu)
c.94786A>T (p.Ile31596Leu)
c.90184A>T (p.Ile30062Leu)
c.90181A>T (p.Ile30061Leu)
c.87223A>T (p.Ile29075Leu)
c.68839A>T (p.Ile22947Leu)
c.90334A>T (p.Ile30112Leu)
c.90331A>T (p.Ile30111Leu)
c.89764A>T (p.Ile29922Leu)
c.87106A>T (p.Ile29036Leu)
c.87025A>T (p.Ile29009Leu)
c.68788A>T (p.Ile22930Leu)
c.58642A>T (p.Ile19548Leu)
2g.178544336T>CCA349456257TTN,TTN-AS1c.88189A>G (p.Ile29397Val)
c.69274A>G (p.Ile23092Val)
c.69073A>G (p.Ile23025Val)
c.68698A>G (p.Ile22900Val)
c.95893A>G (p.Ile31965Val)
c.90970A>G (p.Ile30324Val)
n.446+20700T>C
n.2043+1975T>C
c.94990A>G (p.Ile31664Val)
c.68884A>G (p.Ile22962Val)
c.68743A>G (p.Ile22915Val)
c.94786A>G (p.Ile31596Val)
c.90184A>G (p.Ile30062Val)
c.90181A>G (p.Ile30061Val)
c.87223A>G (p.Ile29075Val)
c.68839A>G (p.Ile22947Val)
c.90334A>G (p.Ile30112Val)
c.90331A>G (p.Ile30111Val)
c.89764A>G (p.Ile29922Val)
c.87106A>G (p.Ile29036Val)
c.87025A>G (p.Ile29009Val)
c.68788A>G (p.Ile22930Val)
c.58642A>G (p.Ile19548Val)
 ClinVar dbSNP gnomAD v4
2g.178544336T>GCA349456268TTN,TTN-AS1c.88189A>C (p.Ile29397Leu)
c.69274A>C (p.Ile23092Leu)
c.69073A>C (p.Ile23025Leu)
c.68698A>C (p.Ile22900Leu)
c.95893A>C (p.Ile31965Leu)
c.90970A>C (p.Ile30324Leu)
n.446+20700T>G
n.2043+1975T>G
c.94990A>C (p.Ile31664Leu)
c.68884A>C (p.Ile22962Leu)
c.68743A>C (p.Ile22915Leu)
c.94786A>C (p.Ile31596Leu)
c.90184A>C (p.Ile30062Leu)
c.90181A>C (p.Ile30061Leu)
c.87223A>C (p.Ile29075Leu)
c.68839A>C (p.Ile22947Leu)
c.90334A>C (p.Ile30112Leu)
c.90331A>C (p.Ile30111Leu)
c.89764A>C (p.Ile29922Leu)
c.87106A>C (p.Ile29036Leu)
c.87025A>C (p.Ile29009Leu)
c.68788A>C (p.Ile22930Leu)
c.58642A>C (p.Ile19548Leu)
2g.178544336T=CA1310521515TTN,TTN-AS1c.88189A= (p.Ile29397=)
c.69274A= (p.Ile23092=)
c.69073A= (p.Ile23025=)
c.68698A= (p.Ile22900=)
c.95893A= (p.Ile31965=)
c.90970A= (p.Ile30324=)
n.446+20700T=
n.2043+1975T=
c.94990A= (p.Ile31664=)
c.68884A= (p.Ile22962=)
c.68743A= (p.Ile22915=)
c.94786A= (p.Ile31596=)
c.90184A= (p.Ile30062=)
c.90181A= (p.Ile30061=)
c.87223A= (p.Ile29075=)
c.68839A= (p.Ile22947=)
c.90334A= (p.Ile30112=)
c.90331A= (p.Ile30111=)
c.89764A= (p.Ile29922=)
c.87106A= (p.Ile29036=)
c.87025A= (p.Ile29009=)
c.68788A= (p.Ile22930=)
c.58642A= (p.Ile19548=)
2g.178544337T>ACA430241766TTN,TTN-AS1c.88188A>T (p.Thr29396=)
c.69273A>T (p.Thr23091=)
c.69072A>T (p.Thr23024=)
c.68697A>T (p.Thr22899=)
c.95892A>T (p.Thr31964=)
c.90969A>T (p.Thr30323=)
n.446+20701T>A
n.2043+1976T>A
c.94989A>T (p.Thr31663=)
c.68883A>T (p.Thr22961=)
c.68742A>T (p.Thr22914=)
c.94785A>T (p.Thr31595=)
c.90183A>T (p.Thr30061=)
c.90180A>T (p.Thr30060=)
c.87222A>T (p.Thr29074=)
c.68838A>T (p.Thr22946=)
c.90333A>T (p.Thr30111=)
c.90330A>T (p.Thr30110=)
c.89763A>T (p.Thr29921=)
c.87105A>T (p.Thr29035=)
c.87024A>T (p.Thr29008=)
c.68787A>T (p.Thr22929=)
c.58641A>T (p.Thr19547=)
2g.178544337T>CCA60970581TTN,TTN-AS1c.88188A>G (p.Thr29396=)
c.69273A>G (p.Thr23091=)
c.69072A>G (p.Thr23024=)
c.68697A>G (p.Thr22899=)
c.95892A>G (p.Thr31964=)
c.90969A>G (p.Thr30323=)
n.446+20701T>C
n.2043+1976T>C
c.94989A>G (p.Thr31663=)
c.68883A>G (p.Thr22961=)
c.68742A>G (p.Thr22914=)
c.94785A>G (p.Thr31595=)
c.90183A>G (p.Thr30061=)
c.90180A>G (p.Thr30060=)
c.87222A>G (p.Thr29074=)
c.68838A>G (p.Thr22946=)
c.90333A>G (p.Thr30111=)
c.90330A>G (p.Thr30110=)
c.89763A>G (p.Thr29921=)
c.87105A>G (p.Thr29035=)
c.87024A>G (p.Thr29008=)
c.68787A>G (p.Thr22929=)
c.58641A>G (p.Thr19547=)
 ClinVar dbSNP gnomAD v4
2g.178544337T>GCA430241768TTN,TTN-AS1c.88188A>C (p.Thr29396=)
c.69273A>C (p.Thr23091=)
c.69072A>C (p.Thr23024=)
c.68697A>C (p.Thr22899=)
c.95892A>C (p.Thr31964=)
c.90969A>C (p.Thr30323=)
n.446+20701T>G
n.2043+1976T>G
c.94989A>C (p.Thr31663=)
c.68883A>C (p.Thr22961=)
c.68742A>C (p.Thr22914=)
c.94785A>C (p.Thr31595=)
c.90183A>C (p.Thr30061=)
c.90180A>C (p.Thr30060=)
c.87222A>C (p.Thr29074=)
c.68838A>C (p.Thr22946=)
c.90333A>C (p.Thr30111=)
c.90330A>C (p.Thr30110=)
c.89763A>C (p.Thr29921=)
c.87105A>C (p.Thr29035=)
c.87024A>C (p.Thr29008=)
c.68787A>C (p.Thr22929=)
c.58641A>C (p.Thr19547=)
2g.178544337T=CA1310521517TTN,TTN-AS1c.88188A= (p.Thr29396=)
c.69273A= (p.Thr23091=)
c.69072A= (p.Thr23024=)
c.68697A= (p.Thr22899=)
c.95892A= (p.Thr31964=)
c.90969A= (p.Thr30323=)
n.446+20701T=
n.2043+1976T=
c.94989A= (p.Thr31663=)
c.68883A= (p.Thr22961=)
c.68742A= (p.Thr22914=)
c.94785A= (p.Thr31595=)
c.90183A= (p.Thr30061=)
c.90180A= (p.Thr30060=)
c.87222A= (p.Thr29074=)
c.68838A= (p.Thr22946=)
c.90333A= (p.Thr30111=)
c.90330A= (p.Thr30110=)
c.89763A= (p.Thr29921=)
c.87105A= (p.Thr29035=)
c.87024A= (p.Thr29008=)
c.68787A= (p.Thr22929=)
c.58641A= (p.Thr19547=)
2g.178544338G>ACA349456277TTN,TTN-AS1c.88187C>T (p.Thr29396Ile)
c.69272C>T (p.Thr23091Ile)
c.69071C>T (p.Thr23024Ile)
c.68696C>T (p.Thr22899Ile)
c.95891C>T (p.Thr31964Ile)
c.90968C>T (p.Thr30323Ile)
n.446+20702G>A
n.2043+1977G>A
c.94988C>T (p.Thr31663Ile)
c.68882C>T (p.Thr22961Ile)
c.68741C>T (p.Thr22914Ile)
c.94784C>T (p.Thr31595Ile)
c.90182C>T (p.Thr30061Ile)
c.90179C>T (p.Thr30060Ile)
c.87221C>T (p.Thr29074Ile)
c.68837C>T (p.Thr22946Ile)
c.90332C>T (p.Thr30111Ile)
c.90329C>T (p.Thr30110Ile)
c.89762C>T (p.Thr29921Ile)
c.87104C>T (p.Thr29035Ile)
c.87023C>T (p.Thr29008Ile)
c.68786C>T (p.Thr22929Ile)
c.58640C>T (p.Thr19547Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178544338G>CCA349456284TTN,TTN-AS1c.88187C>G (p.Thr29396Arg)
c.69272C>G (p.Thr23091Arg)
c.69071C>G (p.Thr23024Arg)
c.68696C>G (p.Thr22899Arg)
c.95891C>G (p.Thr31964Arg)
c.90968C>G (p.Thr30323Arg)
n.446+20702G>C
n.2043+1977G>C
c.94988C>G (p.Thr31663Arg)
c.68882C>G (p.Thr22961Arg)
c.68741C>G (p.Thr22914Arg)
c.94784C>G (p.Thr31595Arg)
c.90182C>G (p.Thr30061Arg)
c.90179C>G (p.Thr30060Arg)
c.87221C>G (p.Thr29074Arg)
c.68837C>G (p.Thr22946Arg)
c.90332C>G (p.Thr30111Arg)
c.90329C>G (p.Thr30110Arg)
c.89762C>G (p.Thr29921Arg)
c.87104C>G (p.Thr29035Arg)
c.87023C>G (p.Thr29008Arg)
c.68786C>G (p.Thr22929Arg)
c.58640C>G (p.Thr19547Arg)
2g.178544338G=CA1310521519TTN,TTN-AS1c.88187C= (p.Thr29396=)
c.69272C= (p.Thr23091=)
c.69071C= (p.Thr23024=)
c.68696C= (p.Thr22899=)
c.95891C= (p.Thr31964=)
c.90968C= (p.Thr30323=)
n.446+20702G=
n.2043+1977G=
c.94988C= (p.Thr31663=)
c.68882C= (p.Thr22961=)
c.68741C= (p.Thr22914=)
c.94784C= (p.Thr31595=)
c.90182C= (p.Thr30061=)
c.90179C= (p.Thr30060=)
c.87221C= (p.Thr29074=)
c.68837C= (p.Thr22946=)
c.90332C= (p.Thr30111=)
c.90329C= (p.Thr30110=)
c.89762C= (p.Thr29921=)
c.87104C= (p.Thr29035=)
c.87023C= (p.Thr29008=)
c.68786C= (p.Thr22929=)
c.58640C= (p.Thr19547=)
2g.178544338G>TCA349456289TTN,TTN-AS1c.88187C>A (p.Thr29396Lys)
c.69272C>A (p.Thr23091Lys)
c.69071C>A (p.Thr23024Lys)
c.68696C>A (p.Thr22899Lys)
c.95891C>A (p.Thr31964Lys)
c.90968C>A (p.Thr30323Lys)
n.446+20702G>T
n.2043+1977G>T
c.94988C>A (p.Thr31663Lys)
c.68882C>A (p.Thr22961Lys)
c.68741C>A (p.Thr22914Lys)
c.94784C>A (p.Thr31595Lys)
c.90182C>A (p.Thr30061Lys)
c.90179C>A (p.Thr30060Lys)
c.87221C>A (p.Thr29074Lys)
c.68837C>A (p.Thr22946Lys)
c.90332C>A (p.Thr30111Lys)
c.90329C>A (p.Thr30110Lys)
c.89762C>A (p.Thr29921Lys)
c.87104C>A (p.Thr29035Lys)
c.87023C>A (p.Thr29008Lys)
c.68786C>A (p.Thr22929Lys)
c.58640C>A (p.Thr19547Lys)
 dbSNP gnomAD v3 gnomAD v4
2g.178544339T>ACA349456292TTN,TTN-AS1c.88186A>T (p.Thr29396Ser)
c.69271A>T (p.Thr23091Ser)
c.69070A>T (p.Thr23024Ser)
c.68695A>T (p.Thr22899Ser)
c.95890A>T (p.Thr31964Ser)
c.90967A>T (p.Thr30323Ser)
n.446+20703T>A
n.2043+1978T>A
c.94987A>T (p.Thr31663Ser)
c.68881A>T (p.Thr22961Ser)
c.68740A>T (p.Thr22914Ser)
c.94783A>T (p.Thr31595Ser)
c.90181A>T (p.Thr30061Ser)
c.90178A>T (p.Thr30060Ser)
c.87220A>T (p.Thr29074Ser)
c.68836A>T (p.Thr22946Ser)
c.90331A>T (p.Thr30111Ser)
c.90328A>T (p.Thr30110Ser)
c.89761A>T (p.Thr29921Ser)
c.87103A>T (p.Thr29035Ser)
c.87022A>T (p.Thr29008Ser)
c.68785A>T (p.Thr22929Ser)
c.58639A>T (p.Thr19547Ser)
2g.178544339T>CCA349456297TTN,TTN-AS1c.88186A>G (p.Thr29396Ala)
c.69271A>G (p.Thr23091Ala)
c.69070A>G (p.Thr23024Ala)
c.68695A>G (p.Thr22899Ala)
c.95890A>G (p.Thr31964Ala)
c.90967A>G (p.Thr30323Ala)
n.446+20703T>C
n.2043+1978T>C
c.94987A>G (p.Thr31663Ala)
c.68881A>G (p.Thr22961Ala)
c.68740A>G (p.Thr22914Ala)
c.94783A>G (p.Thr31595Ala)
c.90181A>G (p.Thr30061Ala)
c.90178A>G (p.Thr30060Ala)
c.87220A>G (p.Thr29074Ala)
c.68836A>G (p.Thr22946Ala)
c.90331A>G (p.Thr30111Ala)
c.90328A>G (p.Thr30110Ala)
c.89761A>G (p.Thr29921Ala)
c.87103A>G (p.Thr29035Ala)
c.87022A>G (p.Thr29008Ala)
c.68785A>G (p.Thr22929Ala)
c.58639A>G (p.Thr19547Ala)
2g.178544339T>GCA349456304TTN,TTN-AS1c.88186A>C (p.Thr29396Pro)
c.69271A>C (p.Thr23091Pro)
c.69070A>C (p.Thr23024Pro)
c.68695A>C (p.Thr22899Pro)
c.95890A>C (p.Thr31964Pro)
c.90967A>C (p.Thr30323Pro)
n.446+20703T>G
n.2043+1978T>G
c.94987A>C (p.Thr31663Pro)
c.68881A>C (p.Thr22961Pro)
c.68740A>C (p.Thr22914Pro)
c.94783A>C (p.Thr31595Pro)
c.90181A>C (p.Thr30061Pro)
c.90178A>C (p.Thr30060Pro)
c.87220A>C (p.Thr29074Pro)
c.68836A>C (p.Thr22946Pro)
c.90331A>C (p.Thr30111Pro)
c.90328A>C (p.Thr30110Pro)
c.89761A>C (p.Thr29921Pro)
c.87103A>C (p.Thr29035Pro)
c.87022A>C (p.Thr29008Pro)
c.68785A>C (p.Thr22929Pro)
c.58639A>C (p.Thr19547Pro)
2g.178544340G>ACA430241772TTN,TTN-AS1c.88185C>T (p.Ala29395=)
c.69270C>T (p.Ala23090=)
c.69069C>T (p.Ala23023=)
c.68694C>T (p.Ala22898=)
c.95889C>T (p.Ala31963=)
c.90966C>T (p.Ala30322=)
n.446+20704G>A
n.2043+1979G>A
c.94986C>T (p.Ala31662=)
c.68880C>T (p.Ala22960=)
c.68739C>T (p.Ala22913=)
c.94782C>T (p.Ala31594=)
c.90180C>T (p.Ala30060=)
c.90177C>T (p.Ala30059=)
c.87219C>T (p.Ala29073=)
c.68835C>T (p.Ala22945=)
c.90330C>T (p.Ala30110=)
c.90327C>T (p.Ala30109=)
c.89760C>T (p.Ala29920=)
c.87102C>T (p.Ala29034=)
c.87021C>T (p.Ala29007=)
c.68784C>T (p.Ala22928=)
c.58638C>T (p.Ala19546=)
2g.178544340G>CCA430241775TTN,TTN-AS1c.88185C>G (p.Ala29395=)
c.69270C>G (p.Ala23090=)
c.69069C>G (p.Ala23023=)
c.68694C>G (p.Ala22898=)
c.95889C>G (p.Ala31963=)
c.90966C>G (p.Ala30322=)
n.446+20704G>C
n.2043+1979G>C
c.94986C>G (p.Ala31662=)
c.68880C>G (p.Ala22960=)
c.68739C>G (p.Ala22913=)
c.94782C>G (p.Ala31594=)
c.90180C>G (p.Ala30060=)
c.90177C>G (p.Ala30059=)
c.87219C>G (p.Ala29073=)
c.68835C>G (p.Ala22945=)
c.90330C>G (p.Ala30110=)
c.90327C>G (p.Ala30109=)
c.89760C>G (p.Ala29920=)
c.87102C>G (p.Ala29034=)
c.87021C>G (p.Ala29007=)
c.68784C>G (p.Ala22928=)
c.58638C>G (p.Ala19546=)
2g.178544340G>TCA430241773TTN,TTN-AS1c.88185C>A (p.Ala29395=)
c.69270C>A (p.Ala23090=)
c.69069C>A (p.Ala23023=)
c.68694C>A (p.Ala22898=)
c.95889C>A (p.Ala31963=)
c.90966C>A (p.Ala30322=)
n.446+20704G>T
n.2043+1979G>T
c.94986C>A (p.Ala31662=)
c.68880C>A (p.Ala22960=)
c.68739C>A (p.Ala22913=)
c.94782C>A (p.Ala31594=)
c.90180C>A (p.Ala30060=)
c.90177C>A (p.Ala30059=)
c.87219C>A (p.Ala29073=)
c.68835C>A (p.Ala22945=)
c.90330C>A (p.Ala30110=)
c.90327C>A (p.Ala30109=)
c.89760C>A (p.Ala29920=)
c.87102C>A (p.Ala29034=)
c.87021C>A (p.Ala29007=)
c.68784C>A (p.Ala22928=)
c.58638C>A (p.Ala19546=)
2g.178544341G>ACA349456314TTN,TTN-AS1c.88184C>T (p.Ala29395Val)
c.69269C>T (p.Ala23090Val)
c.69068C>T (p.Ala23023Val)
c.68693C>T (p.Ala22898Val)
c.95888C>T (p.Ala31963Val)
c.90965C>T (p.Ala30322Val)
n.446+20705G>A
n.2043+1980G>A
c.94985C>T (p.Ala31662Val)
c.68879C>T (p.Ala22960Val)
c.68738C>T (p.Ala22913Val)
c.94781C>T (p.Ala31594Val)
c.90179C>T (p.Ala30060Val)
c.90176C>T (p.Ala30059Val)
c.87218C>T (p.Ala29073Val)
c.68834C>T (p.Ala22945Val)
c.90329C>T (p.Ala30110Val)
c.90326C>T (p.Ala30109Val)
c.89759C>T (p.Ala29920Val)
c.87101C>T (p.Ala29034Val)
c.87020C>T (p.Ala29007Val)
c.68783C>T (p.Ala22928Val)
c.58637C>T (p.Ala19546Val)
2g.178544341G>CCA349456317TTN,TTN-AS1c.88184C>G (p.Ala29395Gly)
c.69269C>G (p.Ala23090Gly)
c.69068C>G (p.Ala23023Gly)
c.68693C>G (p.Ala22898Gly)
c.95888C>G (p.Ala31963Gly)
c.90965C>G (p.Ala30322Gly)
n.446+20705G>C
n.2043+1980G>C
c.94985C>G (p.Ala31662Gly)
c.68879C>G (p.Ala22960Gly)
c.68738C>G (p.Ala22913Gly)
c.94781C>G (p.Ala31594Gly)
c.90179C>G (p.Ala30060Gly)
c.90176C>G (p.Ala30059Gly)
c.87218C>G (p.Ala29073Gly)
c.68834C>G (p.Ala22945Gly)
c.90329C>G (p.Ala30110Gly)
c.90326C>G (p.Ala30109Gly)
c.89759C>G (p.Ala29920Gly)
c.87101C>G (p.Ala29034Gly)
c.87020C>G (p.Ala29007Gly)
c.68783C>G (p.Ala22928Gly)
c.58637C>G (p.Ala19546Gly)
2g.178544341G>TCA349456306TTN,TTN-AS1c.88184C>A (p.Ala29395Asp)
c.69269C>A (p.Ala23090Asp)
c.69068C>A (p.Ala23023Asp)
c.68693C>A (p.Ala22898Asp)
c.95888C>A (p.Ala31963Asp)
c.90965C>A (p.Ala30322Asp)
n.446+20705G>T
n.2043+1980G>T
c.94985C>A (p.Ala31662Asp)
c.68879C>A (p.Ala22960Asp)
c.68738C>A (p.Ala22913Asp)
c.94781C>A (p.Ala31594Asp)
c.90179C>A (p.Ala30060Asp)
c.90176C>A (p.Ala30059Asp)
c.87218C>A (p.Ala29073Asp)
c.68834C>A (p.Ala22945Asp)
c.90329C>A (p.Ala30110Asp)
c.90326C>A (p.Ala30109Asp)
c.89759C>A (p.Ala29920Asp)
c.87101C>A (p.Ala29034Asp)
c.87020C>A (p.Ala29007Asp)
c.68783C>A (p.Ala22928Asp)
c.58637C>A (p.Ala19546Asp)
2g.178544342C>ACA349456333TTN,TTN-AS1c.88183G>T (p.Ala29395Ser)
c.69268G>T (p.Ala23090Ser)
c.69067G>T (p.Ala23023Ser)
c.68692G>T (p.Ala22898Ser)
c.95887G>T (p.Ala31963Ser)
c.90964G>T (p.Ala30322Ser)
n.446+20706C>A
n.2043+1981C>A
c.94984G>T (p.Ala31662Ser)
c.68878G>T (p.Ala22960Ser)
c.68737G>T (p.Ala22913Ser)
c.94780G>T (p.Ala31594Ser)
c.90178G>T (p.Ala30060Ser)
c.90175G>T (p.Ala30059Ser)
c.87217G>T (p.Ala29073Ser)
c.68833G>T (p.Ala22945Ser)
c.90328G>T (p.Ala30110Ser)
c.90325G>T (p.Ala30109Ser)
c.89758G>T (p.Ala29920Ser)
c.87100G>T (p.Ala29034Ser)
c.87019G>T (p.Ala29007Ser)
c.68782G>T (p.Ala22928Ser)
c.58636G>T (p.Ala19546Ser)
2g.178544342C>GCA349456344TTN,TTN-AS1c.88183G>C (p.Ala29395Pro)
c.69268G>C (p.Ala23090Pro)
c.69067G>C (p.Ala23023Pro)
c.68692G>C (p.Ala22898Pro)
c.95887G>C (p.Ala31963Pro)
c.90964G>C (p.Ala30322Pro)
n.446+20706C>G
n.2043+1981C>G
c.94984G>C (p.Ala31662Pro)
c.68878G>C (p.Ala22960Pro)
c.68737G>C (p.Ala22913Pro)
c.94780G>C (p.Ala31594Pro)
c.90178G>C (p.Ala30060Pro)
c.90175G>C (p.Ala30059Pro)
c.87217G>C (p.Ala29073Pro)
c.68833G>C (p.Ala22945Pro)
c.90328G>C (p.Ala30110Pro)
c.90325G>C (p.Ala30109Pro)
c.89758G>C (p.Ala29920Pro)
c.87100G>C (p.Ala29034Pro)
c.87019G>C (p.Ala29007Pro)
c.68782G>C (p.Ala22928Pro)
c.58636G>C (p.Ala19546Pro)
2g.178544342C>TCA349456335TTN,TTN-AS1c.88183G>A (p.Ala29395Thr)
c.69268G>A (p.Ala23090Thr)
c.69067G>A (p.Ala23023Thr)
c.68692G>A (p.Ala22898Thr)
c.95887G>A (p.Ala31963Thr)
c.90964G>A (p.Ala30322Thr)
n.446+20706C>T
n.2043+1981C>T
c.94984G>A (p.Ala31662Thr)
c.68878G>A (p.Ala22960Thr)
c.68737G>A (p.Ala22913Thr)
c.94780G>A (p.Ala31594Thr)
c.90178G>A (p.Ala30060Thr)
c.90175G>A (p.Ala30059Thr)
c.87217G>A (p.Ala29073Thr)
c.68833G>A (p.Ala22945Thr)
c.90328G>A (p.Ala30110Thr)
c.90325G>A (p.Ala30109Thr)
c.89758G>A (p.Ala29920Thr)
c.87100G>A (p.Ala29034Thr)
c.87019G>A (p.Ala29007Thr)
c.68782G>A (p.Ala22928Thr)
c.58636G>A (p.Ala19546Thr)
2g.178544343A=CA1310521520TTN,TTN-AS1c.88182T= (p.Asn29394=)
c.69267T= (p.Asn23089=)
c.69066T= (p.Asn23022=)
c.68691T= (p.Asn22897=)
c.95886T= (p.Asn31962=)
c.90963T= (p.Asn30321=)
n.446+20707A=
n.2043+1982A=
c.94983T= (p.Asn31661=)
c.68877T= (p.Asn22959=)
c.68736T= (p.Asn22912=)
c.94779T= (p.Asn31593=)
c.90177T= (p.Asn30059=)
c.90174T= (p.Asn30058=)
c.87216T= (p.Asn29072=)
c.68832T= (p.Asn22944=)
c.90327T= (p.Asn30109=)
c.90324T= (p.Asn30108=)
c.89757T= (p.Asn29919=)
c.87099T= (p.Asn29033=)
c.87018T= (p.Asn29006=)
c.68781T= (p.Asn22927=)
c.58635T= (p.Asn19545=)
2g.178544343A>CCA349456347TTN,TTN-AS1c.88182T>G (p.Asn29394Lys)
c.69267T>G (p.Asn23089Lys)
c.69066T>G (p.Asn23022Lys)
c.68691T>G (p.Asn22897Lys)
c.95886T>G (p.Asn31962Lys)
c.90963T>G (p.Asn30321Lys)
n.446+20707A>C
n.2043+1982A>C
c.94983T>G (p.Asn31661Lys)
c.68877T>G (p.Asn22959Lys)
c.68736T>G (p.Asn22912Lys)
c.94779T>G (p.Asn31593Lys)
c.90177T>G (p.Asn30059Lys)
c.90174T>G (p.Asn30058Lys)
c.87216T>G (p.Asn29072Lys)
c.68832T>G (p.Asn22944Lys)
c.90327T>G (p.Asn30109Lys)
c.90324T>G (p.Asn30108Lys)
c.89757T>G (p.Asn29919Lys)
c.87099T>G (p.Asn29033Lys)
c.87018T>G (p.Asn29006Lys)
c.68781T>G (p.Asn22927Lys)
c.58635T>G (p.Asn19545Lys)
2g.178544343A>GCA1986857TTN,TTN-AS1c.88182T>C (p.Asn29394=)
c.69267T>C (p.Asn23089=)
c.69066T>C (p.Asn23022=)
c.68691T>C (p.Asn22897=)
c.95886T>C (p.Asn31962=)
c.90963T>C (p.Asn30321=)
n.446+20707A>G
n.2043+1982A>G
c.94983T>C (p.Asn31661=)
c.68877T>C (p.Asn22959=)
c.68736T>C (p.Asn22912=)
c.94779T>C (p.Asn31593=)
c.90177T>C (p.Asn30059=)
c.90174T>C (p.Asn30058=)
c.87216T>C (p.Asn29072=)
c.68832T>C (p.Asn22944=)
c.90327T>C (p.Asn30109=)
c.90324T>C (p.Asn30108=)
c.89757T>C (p.Asn29919=)
c.87099T>C (p.Asn29033=)
c.87018T>C (p.Asn29006=)
c.68781T>C (p.Asn22927=)
c.58635T>C (p.Asn19545=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178544343A>TCA349456352TTN,TTN-AS1c.88182T>A (p.Asn29394Lys)
c.69267T>A (p.Asn23089Lys)
c.69066T>A (p.Asn23022Lys)
c.68691T>A (p.Asn22897Lys)
c.95886T>A (p.Asn31962Lys)
c.90963T>A (p.Asn30321Lys)
n.446+20707A>T
n.2043+1982A>T
c.94983T>A (p.Asn31661Lys)
c.68877T>A (p.Asn22959Lys)
c.68736T>A (p.Asn22912Lys)
c.94779T>A (p.Asn31593Lys)
c.90177T>A (p.Asn30059Lys)
c.90174T>A (p.Asn30058Lys)
c.87216T>A (p.Asn29072Lys)
c.68832T>A (p.Asn22944Lys)
c.90327T>A (p.Asn30109Lys)
c.90324T>A (p.Asn30108Lys)
c.89757T>A (p.Asn29919Lys)
c.87099T>A (p.Asn29033Lys)
c.87018T>A (p.Asn29006Lys)
c.68781T>A (p.Asn22927Lys)
c.58635T>A (p.Asn19545Lys)
2g.178544344T>ACA1986858TTN,TTN-AS1c.88181A>T (p.Asn29394Ile)
c.69266A>T (p.Asn23089Ile)
c.69065A>T (p.Asn23022Ile)
c.68690A>T (p.Asn22897Ile)
c.95885A>T (p.Asn31962Ile)
c.90962A>T (p.Asn30321Ile)
n.446+20708T>A
n.2043+1983T>A
c.94982A>T (p.Asn31661Ile)
c.68876A>T (p.Asn22959Ile)
c.68735A>T (p.Asn22912Ile)
c.94778A>T (p.Asn31593Ile)
c.90176A>T (p.Asn30059Ile)
c.90173A>T (p.Asn30058Ile)
c.87215A>T (p.Asn29072Ile)
c.68831A>T (p.Asn22944Ile)
c.90326A>T (p.Asn30109Ile)
c.90323A>T (p.Asn30108Ile)
c.89756A>T (p.Asn29919Ile)
c.87098A>T (p.Asn29033Ile)
c.87017A>T (p.Asn29006Ile)
c.68780A>T (p.Asn22927Ile)
c.58634A>T (p.Asn19545Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178544344T>CCA349456362TTN,TTN-AS1c.88181A>G (p.Asn29394Ser)
c.69266A>G (p.Asn23089Ser)
c.69065A>G (p.Asn23022Ser)
c.68690A>G (p.Asn22897Ser)
c.95885A>G (p.Asn31962Ser)
c.90962A>G (p.Asn30321Ser)
n.446+20708T>C
n.2043+1983T>C
c.94982A>G (p.Asn31661Ser)
c.68876A>G (p.Asn22959Ser)
c.68735A>G (p.Asn22912Ser)
c.94778A>G (p.Asn31593Ser)
c.90176A>G (p.Asn30059Ser)
c.90173A>G (p.Asn30058Ser)
c.87215A>G (p.Asn29072Ser)
c.68831A>G (p.Asn22944Ser)
c.90326A>G (p.Asn30109Ser)
c.90323A>G (p.Asn30108Ser)
c.89756A>G (p.Asn29919Ser)
c.87098A>G (p.Asn29033Ser)
c.87017A>G (p.Asn29006Ser)
c.68780A>G (p.Asn22927Ser)
c.58634A>G (p.Asn19545Ser)
2g.178544344T>GCA349456366TTN,TTN-AS1c.88181A>C (p.Asn29394Thr)
c.69266A>C (p.Asn23089Thr)
c.69065A>C (p.Asn23022Thr)
c.68690A>C (p.Asn22897Thr)
c.95885A>C (p.Asn31962Thr)
c.90962A>C (p.Asn30321Thr)
n.446+20708T>G
n.2043+1983T>G
c.94982A>C (p.Asn31661Thr)
c.68876A>C (p.Asn22959Thr)
c.68735A>C (p.Asn22912Thr)
c.94778A>C (p.Asn31593Thr)
c.90176A>C (p.Asn30059Thr)
c.90173A>C (p.Asn30058Thr)
c.87215A>C (p.Asn29072Thr)
c.68831A>C (p.Asn22944Thr)
c.90326A>C (p.Asn30109Thr)
c.90323A>C (p.Asn30108Thr)
c.89756A>C (p.Asn29919Thr)
c.87098A>C (p.Asn29033Thr)
c.87017A>C (p.Asn29006Thr)
c.68780A>C (p.Asn22927Thr)
c.58634A>C (p.Asn19545Thr)
2g.178544344T=CA1310521523TTN,TTN-AS1c.88181A= (p.Asn29394=)
c.69266A= (p.Asn23089=)
c.69065A= (p.Asn23022=)
c.68690A= (p.Asn22897=)
c.95885A= (p.Asn31962=)
c.90962A= (p.Asn30321=)
n.446+20708T=
n.2043+1983T=
c.94982A= (p.Asn31661=)
c.68876A= (p.Asn22959=)
c.68735A= (p.Asn22912=)
c.94778A= (p.Asn31593=)
c.90176A= (p.Asn30059=)
c.90173A= (p.Asn30058=)
c.87215A= (p.Asn29072=)
c.68831A= (p.Asn22944=)
c.90326A= (p.Asn30109=)
c.90323A= (p.Asn30108=)
c.89756A= (p.Asn29919=)
c.87098A= (p.Asn29033=)
c.87017A= (p.Asn29006=)
c.68780A= (p.Asn22927=)
c.58634A= (p.Asn19545=)
2g.178544345T>ACA349456369TTN,TTN-AS1c.88180A>T (p.Asn29394Tyr)
c.69265A>T (p.Asn23089Tyr)
c.69064A>T (p.Asn23022Tyr)
c.68689A>T (p.Asn22897Tyr)
c.95884A>T (p.Asn31962Tyr)
c.90961A>T (p.Asn30321Tyr)
n.446+20709T>A
n.2043+1984T>A
c.94981A>T (p.Asn31661Tyr)
c.68875A>T (p.Asn22959Tyr)
c.68734A>T (p.Asn22912Tyr)
c.94777A>T (p.Asn31593Tyr)
c.90175A>T (p.Asn30059Tyr)
c.90172A>T (p.Asn30058Tyr)
c.87214A>T (p.Asn29072Tyr)
c.68830A>T (p.Asn22944Tyr)
c.90325A>T (p.Asn30109Tyr)
c.90322A>T (p.Asn30108Tyr)
c.89755A>T (p.Asn29919Tyr)
c.87097A>T (p.Asn29033Tyr)
c.87016A>T (p.Asn29006Tyr)
c.68779A>T (p.Asn22927Tyr)
c.58633A>T (p.Asn19545Tyr)
2g.178544345T>CCA1986859TTN,TTN-AS1c.88180A>G (p.Asn29394Asp)
c.69265A>G (p.Asn23089Asp)
c.69064A>G (p.Asn23022Asp)
c.68689A>G (p.Asn22897Asp)
c.95884A>G (p.Asn31962Asp)
c.90961A>G (p.Asn30321Asp)
n.446+20709T>C
n.2043+1984T>C
c.94981A>G (p.Asn31661Asp)
c.68875A>G (p.Asn22959Asp)
c.68734A>G (p.Asn22912Asp)
c.94777A>G (p.Asn31593Asp)
c.90175A>G (p.Asn30059Asp)
c.90172A>G (p.Asn30058Asp)
c.87214A>G (p.Asn29072Asp)
c.68830A>G (p.Asn22944Asp)
c.90325A>G (p.Asn30109Asp)
c.90322A>G (p.Asn30108Asp)
c.89755A>G (p.Asn29919Asp)
c.87097A>G (p.Asn29033Asp)
c.87016A>G (p.Asn29006Asp)
c.68779A>G (p.Asn22927Asp)
c.58633A>G (p.Asn19545Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178544345T>GCA349456380TTN,TTN-AS1c.88180A>C (p.Asn29394His)
c.69265A>C (p.Asn23089His)
c.69064A>C (p.Asn23022His)
c.68689A>C (p.Asn22897His)
c.95884A>C (p.Asn31962His)
c.90961A>C (p.Asn30321His)
n.446+20709T>G
n.2043+1984T>G
c.94981A>C (p.Asn31661His)
c.68875A>C (p.Asn22959His)
c.68734A>C (p.Asn22912His)
c.94777A>C (p.Asn31593His)
c.90175A>C (p.Asn30059His)
c.90172A>C (p.Asn30058His)
c.87214A>C (p.Asn29072His)
c.68830A>C (p.Asn22944His)
c.90325A>C (p.Asn30109His)
c.90322A>C (p.Asn30108His)
c.89755A>C (p.Asn29919His)
c.87097A>C (p.Asn29033His)
c.87016A>C (p.Asn29006His)
c.68779A>C (p.Asn22927His)
c.58633A>C (p.Asn19545His)
2g.178544345T=CA1310521526TTN,TTN-AS1c.88180A= (p.Asn29394=)
c.69265A= (p.Asn23089=)
c.69064A= (p.Asn23022=)
c.68689A= (p.Asn22897=)
c.95884A= (p.Asn31962=)
c.90961A= (p.Asn30321=)
n.446+20709T=
n.2043+1984T=
c.94981A= (p.Asn31661=)
c.68875A= (p.Asn22959=)
c.68734A= (p.Asn22912=)
c.94777A= (p.Asn31593=)
c.90175A= (p.Asn30059=)
c.90172A= (p.Asn30058=)
c.87214A= (p.Asn29072=)
c.68830A= (p.Asn22944=)
c.90325A= (p.Asn30109=)
c.90322A= (p.Asn30108=)
c.89755A= (p.Asn29919=)
c.87097A= (p.Asn29033=)
c.87016A= (p.Asn29006=)
c.68779A= (p.Asn22927=)
c.58633A= (p.Asn19545=)
2g.178544346G>ACA430241794TTN,TTN-AS1c.88179C>T (p.Thr29393=)
c.69264C>T (p.Thr23088=)
c.69063C>T (p.Thr23021=)
c.68688C>T (p.Thr22896=)
c.95883C>T (p.Thr31961=)
c.90960C>T (p.Thr30320=)
n.446+20710G>A
n.2043+1985G>A
c.94980C>T (p.Thr31660=)
c.68874C>T (p.Thr22958=)
c.68733C>T (p.Thr22911=)
c.94776C>T (p.Thr31592=)
c.90174C>T (p.Thr30058=)
c.90171C>T (p.Thr30057=)
c.87213C>T (p.Thr29071=)
c.68829C>T (p.Thr22943=)
c.90324C>T (p.Thr30108=)
c.90321C>T (p.Thr30107=)
c.89754C>T (p.Thr29918=)
c.87096C>T (p.Thr29032=)
c.87015C>T (p.Thr29005=)
c.68778C>T (p.Thr22926=)
c.58632C>T (p.Thr19544=)
2g.178544346G>CCA430241795TTN,TTN-AS1c.88179C>G (p.Thr29393=)
c.69264C>G (p.Thr23088=)
c.69063C>G (p.Thr23021=)
c.68688C>G (p.Thr22896=)
c.95883C>G (p.Thr31961=)
c.90960C>G (p.Thr30320=)
n.446+20710G>C
n.2043+1985G>C
c.94980C>G (p.Thr31660=)
c.68874C>G (p.Thr22958=)
c.68733C>G (p.Thr22911=)
c.94776C>G (p.Thr31592=)
c.90174C>G (p.Thr30058=)
c.90171C>G (p.Thr30057=)
c.87213C>G (p.Thr29071=)
c.68829C>G (p.Thr22943=)
c.90324C>G (p.Thr30108=)
c.90321C>G (p.Thr30107=)
c.89754C>G (p.Thr29918=)
c.87096C>G (p.Thr29032=)
c.87015C>G (p.Thr29005=)
c.68778C>G (p.Thr22926=)
c.58632C>G (p.Thr19544=)
 ClinVar dbSNP
2g.178544346G=CA1310521527TTN,TTN-AS1c.88179C= (p.Thr29393=)
c.69264C= (p.Thr23088=)
c.69063C= (p.Thr23021=)
c.68688C= (p.Thr22896=)
c.95883C= (p.Thr31961=)
c.90960C= (p.Thr30320=)
n.446+20710G=
n.2043+1985G=
c.94980C= (p.Thr31660=)
c.68874C= (p.Thr22958=)
c.68733C= (p.Thr22911=)
c.94776C= (p.Thr31592=)
c.90174C= (p.Thr30058=)
c.90171C= (p.Thr30057=)
c.87213C= (p.Thr29071=)
c.68829C= (p.Thr22943=)
c.90324C= (p.Thr30108=)
c.90321C= (p.Thr30107=)
c.89754C= (p.Thr29918=)
c.87096C= (p.Thr29032=)
c.87015C= (p.Thr29005=)
c.68778C= (p.Thr22926=)
c.58632C= (p.Thr19544=)
2g.178544346G>TCA430241796TTN,TTN-AS1c.88179C>A (p.Thr29393=)
c.69264C>A (p.Thr23088=)
c.69063C>A (p.Thr23021=)
c.68688C>A (p.Thr22896=)
c.95883C>A (p.Thr31961=)
c.90960C>A (p.Thr30320=)
n.446+20710G>T
n.2043+1985G>T
c.94980C>A (p.Thr31660=)
c.68874C>A (p.Thr22958=)
c.68733C>A (p.Thr22911=)
c.94776C>A (p.Thr31592=)
c.90174C>A (p.Thr30058=)
c.90171C>A (p.Thr30057=)
c.87213C>A (p.Thr29071=)
c.68829C>A (p.Thr22943=)
c.90324C>A (p.Thr30108=)
c.90321C>A (p.Thr30107=)
c.89754C>A (p.Thr29918=)
c.87096C>A (p.Thr29032=)
c.87015C>A (p.Thr29005=)
c.68778C>A (p.Thr22926=)
c.58632C>A (p.Thr19544=)
 gnomAD v4
2g.178544347G>ACA349456397TTN,TTN-AS1c.88178C>T (p.Thr29393Ile)
c.69263C>T (p.Thr23088Ile)
c.69062C>T (p.Thr23021Ile)
c.68687C>T (p.Thr22896Ile)
c.95882C>T (p.Thr31961Ile)
c.90959C>T (p.Thr30320Ile)
n.446+20711G>A
n.2043+1986G>A
c.94979C>T (p.Thr31660Ile)
c.68873C>T (p.Thr22958Ile)
c.68732C>T (p.Thr22911Ile)
c.94775C>T (p.Thr31592Ile)
c.90173C>T (p.Thr30058Ile)
c.90170C>T (p.Thr30057Ile)
c.87212C>T (p.Thr29071Ile)
c.68828C>T (p.Thr22943Ile)
c.90323C>T (p.Thr30108Ile)
c.90320C>T (p.Thr30107Ile)
c.89753C>T (p.Thr29918Ile)
c.87095C>T (p.Thr29032Ile)
c.87014C>T (p.Thr29005Ile)
c.68777C>T (p.Thr22926Ile)
c.58631C>T (p.Thr19544Ile)
 dbSNP gnomAD v2
2g.178544347G>CCA349456421TTN,TTN-AS1c.88178C>G (p.Thr29393Ser)
c.69263C>G (p.Thr23088Ser)
c.69062C>G (p.Thr23021Ser)
c.68687C>G (p.Thr22896Ser)
c.95882C>G (p.Thr31961Ser)
c.90959C>G (p.Thr30320Ser)
n.446+20711G>C
n.2043+1986G>C
c.94979C>G (p.Thr31660Ser)
c.68873C>G (p.Thr22958Ser)
c.68732C>G (p.Thr22911Ser)
c.94775C>G (p.Thr31592Ser)
c.90173C>G (p.Thr30058Ser)
c.90170C>G (p.Thr30057Ser)
c.87212C>G (p.Thr29071Ser)
c.68828C>G (p.Thr22943Ser)
c.90323C>G (p.Thr30108Ser)
c.90320C>G (p.Thr30107Ser)
c.89753C>G (p.Thr29918Ser)
c.87095C>G (p.Thr29032Ser)
c.87014C>G (p.Thr29005Ser)
c.68777C>G (p.Thr22926Ser)
c.58631C>G (p.Thr19544Ser)
2g.178544347G=CA1310521529TTN,TTN-AS1c.88178C= (p.Thr29393=)
c.69263C= (p.Thr23088=)
c.69062C= (p.Thr23021=)
c.68687C= (p.Thr22896=)
c.95882C= (p.Thr31961=)
c.90959C= (p.Thr30320=)
n.446+20711G=
n.2043+1986G=
c.94979C= (p.Thr31660=)
c.68873C= (p.Thr22958=)
c.68732C= (p.Thr22911=)
c.94775C= (p.Thr31592=)
c.90173C= (p.Thr30058=)
c.90170C= (p.Thr30057=)
c.87212C= (p.Thr29071=)
c.68828C= (p.Thr22943=)
c.90323C= (p.Thr30108=)
c.90320C= (p.Thr30107=)
c.89753C= (p.Thr29918=)
c.87095C= (p.Thr29032=)
c.87014C= (p.Thr29005=)
c.68777C= (p.Thr22926=)
c.58631C= (p.Thr19544=)
2g.178544347G>TCA349456423TTN,TTN-AS1c.88178C>A (p.Thr29393Asn)
c.69263C>A (p.Thr23088Asn)
c.69062C>A (p.Thr23021Asn)
c.68687C>A (p.Thr22896Asn)
c.95882C>A (p.Thr31961Asn)
c.90959C>A (p.Thr30320Asn)
n.446+20711G>T
n.2043+1986G>T
c.94979C>A (p.Thr31660Asn)
c.68873C>A (p.Thr22958Asn)
c.68732C>A (p.Thr22911Asn)
c.94775C>A (p.Thr31592Asn)
c.90173C>A (p.Thr30058Asn)
c.90170C>A (p.Thr30057Asn)
c.87212C>A (p.Thr29071Asn)
c.68828C>A (p.Thr22943Asn)
c.90323C>A (p.Thr30108Asn)
c.90320C>A (p.Thr30107Asn)
c.89753C>A (p.Thr29918Asn)
c.87095C>A (p.Thr29032Asn)
c.87014C>A (p.Thr29005Asn)
c.68777C>A (p.Thr22926Asn)
c.58631C>A (p.Thr19544Asn)
 dbSNP gnomAD v2
2g.178544348T>ACA349456427TTN,TTN-AS1c.88177A>T (p.Thr29393Ser)
c.69262A>T (p.Thr23088Ser)
c.69061A>T (p.Thr23021Ser)
c.68686A>T (p.Thr22896Ser)
c.95881A>T (p.Thr31961Ser)
c.90958A>T (p.Thr30320Ser)
n.446+20712T>A
n.2043+1987T>A
c.94978A>T (p.Thr31660Ser)
c.68872A>T (p.Thr22958Ser)
c.68731A>T (p.Thr22911Ser)
c.94774A>T (p.Thr31592Ser)
c.90172A>T (p.Thr30058Ser)
c.90169A>T (p.Thr30057Ser)
c.87211A>T (p.Thr29071Ser)
c.68827A>T (p.Thr22943Ser)
c.90322A>T (p.Thr30108Ser)
c.90319A>T (p.Thr30107Ser)
c.89752A>T (p.Thr29918Ser)
c.87094A>T (p.Thr29032Ser)
c.87013A>T (p.Thr29005Ser)
c.68776A>T (p.Thr22926Ser)
c.58630A>T (p.Thr19544Ser)
2g.178544348T>CCA349456452TTN,TTN-AS1c.88177A>G (p.Thr29393Ala)
c.69262A>G (p.Thr23088Ala)
c.69061A>G (p.Thr23021Ala)
c.68686A>G (p.Thr22896Ala)
c.95881A>G (p.Thr31961Ala)
c.90958A>G (p.Thr30320Ala)
n.446+20712T>C
n.2043+1987T>C
c.94978A>G (p.Thr31660Ala)
c.68872A>G (p.Thr22958Ala)
c.68731A>G (p.Thr22911Ala)
c.94774A>G (p.Thr31592Ala)
c.90172A>G (p.Thr30058Ala)
c.90169A>G (p.Thr30057Ala)
c.87211A>G (p.Thr29071Ala)
c.68827A>G (p.Thr22943Ala)
c.90322A>G (p.Thr30108Ala)
c.90319A>G (p.Thr30107Ala)
c.89752A>G (p.Thr29918Ala)
c.87094A>G (p.Thr29032Ala)
c.87013A>G (p.Thr29005Ala)
c.68776A>G (p.Thr22926Ala)
c.58630A>G (p.Thr19544Ala)
 dbSNP gnomAD v4
2g.178544348T>GCA349456441TTN,TTN-AS1c.88177A>C (p.Thr29393Pro)
c.69262A>C (p.Thr23088Pro)
c.69061A>C (p.Thr23021Pro)
c.68686A>C (p.Thr22896Pro)
c.95881A>C (p.Thr31961Pro)
c.90958A>C (p.Thr30320Pro)
n.446+20712T>G
n.2043+1987T>G
c.94978A>C (p.Thr31660Pro)
c.68872A>C (p.Thr22958Pro)
c.68731A>C (p.Thr22911Pro)
c.94774A>C (p.Thr31592Pro)
c.90172A>C (p.Thr30058Pro)
c.90169A>C (p.Thr30057Pro)
c.87211A>C (p.Thr29071Pro)
c.68827A>C (p.Thr22943Pro)
c.90322A>C (p.Thr30108Pro)
c.90319A>C (p.Thr30107Pro)
c.89752A>C (p.Thr29918Pro)
c.87094A>C (p.Thr29032Pro)
c.87013A>C (p.Thr29005Pro)
c.68776A>C (p.Thr22926Pro)
c.58630A>C (p.Thr19544Pro)
2g.178544348T=CA1310521531TTN,TTN-AS1c.88177A= (p.Thr29393=)
c.69262A= (p.Thr23088=)
c.69061A= (p.Thr23021=)
c.68686A= (p.Thr22896=)
c.95881A= (p.Thr31961=)
c.90958A= (p.Thr30320=)
n.446+20712T=
n.2043+1987T=
c.94978A= (p.Thr31660=)
c.68872A= (p.Thr22958=)
c.68731A= (p.Thr22911=)
c.94774A= (p.Thr31592=)
c.90172A= (p.Thr30058=)
c.90169A= (p.Thr30057=)
c.87211A= (p.Thr29071=)
c.68827A= (p.Thr22943=)
c.90322A= (p.Thr30108=)
c.90319A= (p.Thr30107=)
c.89752A= (p.Thr29918=)
c.87094A= (p.Thr29032=)
c.87013A= (p.Thr29005=)
c.68776A= (p.Thr22926=)
c.58630A= (p.Thr19544=)
2g.178544349A=CA1310521533TTN,TTN-AS1c.88176T= (p.His29392=)
c.69261T= (p.His23087=)
c.69060T= (p.His23020=)
c.68685T= (p.His22895=)
c.95880T= (p.His31960=)
c.90957T= (p.His30319=)
n.446+20713A=
n.2043+1988A=
c.94977T= (p.His31659=)
c.68871T= (p.His22957=)
c.68730T= (p.His22910=)
c.94773T= (p.His31591=)
c.90171T= (p.His30057=)
c.90168T= (p.His30056=)
c.87210T= (p.His29070=)
c.68826T= (p.His22942=)
c.90321T= (p.His30107=)
c.90318T= (p.His30106=)
c.89751T= (p.His29917=)
c.87093T= (p.His29031=)
c.87012T= (p.His29004=)
c.68775T= (p.His22925=)
c.58629T= (p.His19543=)
2g.178544349A>CCA349456465TTN,TTN-AS1c.88176T>G (p.His29392Gln)
c.69261T>G (p.His23087Gln)
c.69060T>G (p.His23020Gln)
c.68685T>G (p.His22895Gln)
c.95880T>G (p.His31960Gln)
c.90957T>G (p.His30319Gln)
n.446+20713A>C
n.2043+1988A>C
c.94977T>G (p.His31659Gln)
c.68871T>G (p.His22957Gln)
c.68730T>G (p.His22910Gln)
c.94773T>G (p.His31591Gln)
c.90171T>G (p.His30057Gln)
c.90168T>G (p.His30056Gln)
c.87210T>G (p.His29070Gln)
c.68826T>G (p.His22942Gln)
c.90321T>G (p.His30107Gln)
c.90318T>G (p.His30106Gln)
c.89751T>G (p.His29917Gln)
c.87093T>G (p.His29031Gln)
c.87012T>G (p.His29004Gln)
c.68775T>G (p.His22925Gln)
c.58629T>G (p.His19543Gln)
2g.178544349A>GCA430241801TTN,TTN-AS1c.88176T>C (p.His29392=)
c.69261T>C (p.His23087=)
c.69060T>C (p.His23020=)
c.68685T>C (p.His22895=)
c.95880T>C (p.His31960=)
c.90957T>C (p.His30319=)
n.446+20713A>G
n.2043+1988A>G
c.94977T>C (p.His31659=)
c.68871T>C (p.His22957=)
c.68730T>C (p.His22910=)
c.94773T>C (p.His31591=)
c.90171T>C (p.His30057=)
c.90168T>C (p.His30056=)
c.87210T>C (p.His29070=)
c.68826T>C (p.His22942=)
c.90321T>C (p.His30107=)
c.90318T>C (p.His30106=)
c.89751T>C (p.His29917=)
c.87093T>C (p.His29031=)
c.87012T>C (p.His29004=)
c.68775T>C (p.His22925=)
c.58629T>C (p.His19543=)
 ClinVar dbSNP gnomAD v4
2g.178544349A>TCA349456473TTN,TTN-AS1c.88176T>A (p.His29392Gln)
c.69261T>A (p.His23087Gln)
c.69060T>A (p.His23020Gln)
c.68685T>A (p.His22895Gln)
c.95880T>A (p.His31960Gln)
c.90957T>A (p.His30319Gln)
n.446+20713A>T
n.2043+1988A>T
c.94977T>A (p.His31659Gln)
c.68871T>A (p.His22957Gln)
c.68730T>A (p.His22910Gln)
c.94773T>A (p.His31591Gln)
c.90171T>A (p.His30057Gln)
c.90168T>A (p.His30056Gln)
c.87210T>A (p.His29070Gln)
c.68826T>A (p.His22942Gln)
c.90321T>A (p.His30107Gln)
c.90318T>A (p.His30106Gln)
c.89751T>A (p.His29917Gln)
c.87093T>A (p.His29031Gln)
c.87012T>A (p.His29004Gln)
c.68775T>A (p.His22925Gln)
c.58629T>A (p.His19543Gln)
2g.178544350T>ACA349456480TTN,TTN-AS1c.88175A>T (p.His29392Leu)
c.69260A>T (p.His23087Leu)
c.69059A>T (p.His23020Leu)
c.68684A>T (p.His22895Leu)
c.95879A>T (p.His31960Leu)
c.90956A>T (p.His30319Leu)
n.446+20714T>A
n.2043+1989T>A
c.94976A>T (p.His31659Leu)
c.68870A>T (p.His22957Leu)
c.68729A>T (p.His22910Leu)
c.94772A>T (p.His31591Leu)
c.90170A>T (p.His30057Leu)
c.90167A>T (p.His30056Leu)
c.87209A>T (p.His29070Leu)
c.68825A>T (p.His22942Leu)
c.90320A>T (p.His30107Leu)
c.90317A>T (p.His30106Leu)
c.89750A>T (p.His29917Leu)
c.87092A>T (p.His29031Leu)
c.87011A>T (p.His29004Leu)
c.68774A>T (p.His22925Leu)
c.58628A>T (p.His19543Leu)
2g.178544350T>CCA1986860TTN,TTN-AS1c.88175A>G (p.His29392Arg)
c.69260A>G (p.His23087Arg)
c.69059A>G (p.His23020Arg)
c.68684A>G (p.His22895Arg)
c.95879A>G (p.His31960Arg)
c.90956A>G (p.His30319Arg)
n.446+20714T>C
n.2043+1989T>C
c.94976A>G (p.His31659Arg)
c.68870A>G (p.His22957Arg)
c.68729A>G (p.His22910Arg)
c.94772A>G (p.His31591Arg)
c.90170A>G (p.His30057Arg)
c.90167A>G (p.His30056Arg)
c.87209A>G (p.His29070Arg)
c.68825A>G (p.His22942Arg)
c.90320A>G (p.His30107Arg)
c.90317A>G (p.His30106Arg)
c.89750A>G (p.His29917Arg)
c.87092A>G (p.His29031Arg)
c.87011A>G (p.His29004Arg)
c.68774A>G (p.His22925Arg)
c.58628A>G (p.His19543Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178544350T>GCA349456490TTN,TTN-AS1c.88175A>C (p.His29392Pro)
c.69260A>C (p.His23087Pro)
c.69059A>C (p.His23020Pro)
c.68684A>C (p.His22895Pro)
c.95879A>C (p.His31960Pro)
c.90956A>C (p.His30319Pro)
n.446+20714T>G
n.2043+1989T>G
c.94976A>C (p.His31659Pro)
c.68870A>C (p.His22957Pro)
c.68729A>C (p.His22910Pro)
c.94772A>C (p.His31591Pro)
c.90170A>C (p.His30057Pro)
c.90167A>C (p.His30056Pro)
c.87209A>C (p.His29070Pro)
c.68825A>C (p.His22942Pro)
c.90320A>C (p.His30107Pro)
c.90317A>C (p.His30106Pro)
c.89750A>C (p.His29917Pro)
c.87092A>C (p.His29031Pro)
c.87011A>C (p.His29004Pro)
c.68774A>C (p.His22925Pro)
c.58628A>C (p.His19543Pro)
2g.178544350T=CA1310521534TTN,TTN-AS1c.88175A= (p.His29392=)
c.69260A= (p.His23087=)
c.69059A= (p.His23020=)
c.68684A= (p.His22895=)
c.95879A= (p.His31960=)
c.90956A= (p.His30319=)
n.446+20714T=
n.2043+1989T=
c.94976A= (p.His31659=)
c.68870A= (p.His22957=)
c.68729A= (p.His22910=)
c.94772A= (p.His31591=)
c.90170A= (p.His30057=)
c.90167A= (p.His30056=)
c.87209A= (p.His29070=)
c.68825A= (p.His22942=)
c.90320A= (p.His30107=)
c.90317A= (p.His30106=)
c.89750A= (p.His29917=)
c.87092A= (p.His29031=)
c.87011A= (p.His29004=)
c.68774A= (p.His22925=)
c.58628A= (p.His19543=)
2g.178544351G>ACA349456495TTN,TTN-AS1c.88174C>T (p.His29392Tyr)
c.69259C>T (p.His23087Tyr)
c.69058C>T (p.His23020Tyr)
c.68683C>T (p.His22895Tyr)
c.95878C>T (p.His31960Tyr)
c.90955C>T (p.His30319Tyr)
n.446+20715G>A
n.2043+1990G>A
c.94975C>T (p.His31659Tyr)
c.68869C>T (p.His22957Tyr)
c.68728C>T (p.His22910Tyr)
c.94771C>T (p.His31591Tyr)
c.90169C>T (p.His30057Tyr)
c.90166C>T (p.His30056Tyr)
c.87208C>T (p.His29070Tyr)
c.68824C>T (p.His22942Tyr)
c.90319C>T (p.His30107Tyr)
c.90316C>T (p.His30106Tyr)
c.89749C>T (p.His29917Tyr)
c.87091C>T (p.His29031Tyr)
c.87010C>T (p.His29004Tyr)
c.68773C>T (p.His22925Tyr)
c.58627C>T (p.His19543Tyr)
2g.178544351G>CCA349456496TTN,TTN-AS1c.88174C>G (p.His29392Asp)
c.69259C>G (p.His23087Asp)
c.69058C>G (p.His23020Asp)
c.68683C>G (p.His22895Asp)
c.95878C>G (p.His31960Asp)
c.90955C>G (p.His30319Asp)
n.446+20715G>C
n.2043+1990G>C
c.94975C>G (p.His31659Asp)
c.68869C>G (p.His22957Asp)
c.68728C>G (p.His22910Asp)
c.94771C>G (p.His31591Asp)
c.90169C>G (p.His30057Asp)
c.90166C>G (p.His30056Asp)
c.87208C>G (p.His29070Asp)
c.68824C>G (p.His22942Asp)
c.90319C>G (p.His30107Asp)
c.90316C>G (p.His30106Asp)
c.89749C>G (p.His29917Asp)
c.87091C>G (p.His29031Asp)
c.87010C>G (p.His29004Asp)
c.68773C>G (p.His22925Asp)
c.58627C>G (p.His19543Asp)
2g.178544351G>TCA349456500TTN,TTN-AS1c.88174C>A (p.His29392Asn)
c.69259C>A (p.His23087Asn)
c.69058C>A (p.His23020Asn)
c.68683C>A (p.His22895Asn)
c.95878C>A (p.His31960Asn)
c.90955C>A (p.His30319Asn)
n.446+20715G>T
n.2043+1990G>T
c.94975C>A (p.His31659Asn)
c.68869C>A (p.His22957Asn)
c.68728C>A (p.His22910Asn)
c.94771C>A (p.His31591Asn)
c.90169C>A (p.His30057Asn)
c.90166C>A (p.His30056Asn)
c.87208C>A (p.His29070Asn)
c.68824C>A (p.His22942Asn)
c.90319C>A (p.His30107Asn)
c.90316C>A (p.His30106Asn)
c.89749C>A (p.His29917Asn)
c.87091C>A (p.His29031Asn)
c.87010C>A (p.His29004Asn)
c.68773C>A (p.His22925Asn)
c.58627C>A (p.His19543Asn)
2g.178544352C>ACA430241807TTN,TTN-AS1c.88173G>T (p.Val29391=)
c.69258G>T (p.Val23086=)
c.69057G>T (p.Val23019=)
c.68682G>T (p.Val22894=)
c.95877G>T (p.Val31959=)
c.90954G>T (p.Val30318=)
n.446+20716C>A
n.2043+1991C>A
c.94974G>T (p.Val31658=)
c.68868G>T (p.Val22956=)
c.68727G>T (p.Val22909=)
c.94770G>T (p.Val31590=)
c.90168G>T (p.Val30056=)
c.90165G>T (p.Val30055=)
c.87207G>T (p.Val29069=)
c.68823G>T (p.Val22941=)
c.90318G>T (p.Val30106=)
c.90315G>T (p.Val30105=)
c.89748G>T (p.Val29916=)
c.87090G>T (p.Val29030=)
c.87009G>T (p.Val29003=)
c.68772G>T (p.Val22924=)
c.58626G>T (p.Val19542=)
2g.178544352C=CA1310521536TTN,TTN-AS1c.88173G= (p.Val29391=)
c.69258G= (p.Val23086=)
c.69057G= (p.Val23019=)
c.68682G= (p.Val22894=)
c.95877G= (p.Val31959=)
c.90954G= (p.Val30318=)
n.446+20716C=
n.2043+1991C=
c.94974G= (p.Val31658=)
c.68868G= (p.Val22956=)
c.68727G= (p.Val22909=)
c.94770G= (p.Val31590=)
c.90168G= (p.Val30056=)
c.90165G= (p.Val30055=)
c.87207G= (p.Val29069=)
c.68823G= (p.Val22941=)
c.90318G= (p.Val30106=)
c.90315G= (p.Val30105=)
c.89748G= (p.Val29916=)
c.87090G= (p.Val29030=)
c.87009G= (p.Val29003=)
c.68772G= (p.Val22924=)
c.58626G= (p.Val19542=)
2g.178544352C>GCA430241810TTN,TTN-AS1c.88173G>C (p.Val29391=)
c.69258G>C (p.Val23086=)
c.69057G>C (p.Val23019=)
c.68682G>C (p.Val22894=)
c.95877G>C (p.Val31959=)
c.90954G>C (p.Val30318=)
n.446+20716C>G
n.2043+1991C>G
c.94974G>C (p.Val31658=)
c.68868G>C (p.Val22956=)
c.68727G>C (p.Val22909=)
c.94770G>C (p.Val31590=)
c.90168G>C (p.Val30056=)
c.90165G>C (p.Val30055=)
c.87207G>C (p.Val29069=)
c.68823G>C (p.Val22941=)
c.90318G>C (p.Val30106=)
c.90315G>C (p.Val30105=)
c.89748G>C (p.Val29916=)
c.87090G>C (p.Val29030=)
c.87009G>C (p.Val29003=)
c.68772G>C (p.Val22924=)
c.58626G>C (p.Val19542=)
2g.178544352C>TCA60970600TTN,TTN-AS1c.88173G>A (p.Val29391=)
c.69258G>A (p.Val23086=)
c.69057G>A (p.Val23019=)
c.68682G>A (p.Val22894=)
c.95877G>A (p.Val31959=)
c.90954G>A (p.Val30318=)
n.446+20716C>T
n.2043+1991C>T
c.94974G>A (p.Val31658=)
c.68868G>A (p.Val22956=)
c.68727G>A (p.Val22909=)
c.94770G>A (p.Val31590=)
c.90168G>A (p.Val30056=)
c.90165G>A (p.Val30055=)
c.87207G>A (p.Val29069=)
c.68823G>A (p.Val22941=)
c.90318G>A (p.Val30106=)
c.90315G>A (p.Val30105=)
c.89748G>A (p.Val29916=)
c.87090G>A (p.Val29030=)
c.87009G>A (p.Val29003=)
c.68772G>A (p.Val22924=)
c.58626G>A (p.Val19542=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178544353A=CA1310521537TTN,TTN-AS1c.88172T= (p.Val29391=)
c.69257T= (p.Val23086=)
c.69056T= (p.Val23019=)
c.68681T= (p.Val22894=)
c.95876T= (p.Val31959=)
c.90953T= (p.Val30318=)
n.446+20717A=
n.2043+1992A=
c.94973T= (p.Val31658=)
c.68867T= (p.Val22956=)
c.68726T= (p.Val22909=)
c.94769T= (p.Val31590=)
c.90167T= (p.Val30056=)
c.90164T= (p.Val30055=)
c.87206T= (p.Val29069=)
c.68822T= (p.Val22941=)
c.90317T= (p.Val30106=)
c.90314T= (p.Val30105=)
c.89747T= (p.Val29916=)
c.87089T= (p.Val29030=)
c.87008T= (p.Val29003=)
c.68771T= (p.Val22924=)
c.58625T= (p.Val19542=)
2g.178544353A>CCA349456524TTN,TTN-AS1c.88172T>G (p.Val29391Gly)
c.69257T>G (p.Val23086Gly)
c.69056T>G (p.Val23019Gly)
c.68681T>G (p.Val22894Gly)
c.95876T>G (p.Val31959Gly)
c.90953T>G (p.Val30318Gly)
n.446+20717A>C
n.2043+1992A>C
c.94973T>G (p.Val31658Gly)
c.68867T>G (p.Val22956Gly)
c.68726T>G (p.Val22909Gly)
c.94769T>G (p.Val31590Gly)
c.90167T>G (p.Val30056Gly)
c.90164T>G (p.Val30055Gly)
c.87206T>G (p.Val29069Gly)
c.68822T>G (p.Val22941Gly)
c.90317T>G (p.Val30106Gly)
c.90314T>G (p.Val30105Gly)
c.89747T>G (p.Val29916Gly)
c.87089T>G (p.Val29030Gly)
c.87008T>G (p.Val29003Gly)
c.68771T>G (p.Val22924Gly)
c.58625T>G (p.Val19542Gly)
2g.178544353A>GCA349456530TTN,TTN-AS1c.88172T>C (p.Val29391Ala)
c.69257T>C (p.Val23086Ala)
c.69056T>C (p.Val23019Ala)
c.68681T>C (p.Val22894Ala)
c.95876T>C (p.Val31959Ala)
c.90953T>C (p.Val30318Ala)
n.446+20717A>G
n.2043+1992A>G
c.94973T>C (p.Val31658Ala)
c.68867T>C (p.Val22956Ala)
c.68726T>C (p.Val22909Ala)
c.94769T>C (p.Val31590Ala)
c.90167T>C (p.Val30056Ala)
c.90164T>C (p.Val30055Ala)
c.87206T>C (p.Val29069Ala)
c.68822T>C (p.Val22941Ala)
c.90317T>C (p.Val30106Ala)
c.90314T>C (p.Val30105Ala)
c.89747T>C (p.Val29916Ala)
c.87089T>C (p.Val29030Ala)
c.87008T>C (p.Val29003Ala)
c.68771T>C (p.Val22924Ala)
c.58625T>C (p.Val19542Ala)
2g.178544353A>TCA1986861TTN,TTN-AS1c.88172T>A (p.Val29391Glu)
c.69257T>A (p.Val23086Glu)
c.69056T>A (p.Val23019Glu)
c.68681T>A (p.Val22894Glu)
c.95876T>A (p.Val31959Glu)
c.90953T>A (p.Val30318Glu)
n.446+20717A>T
n.2043+1992A>T
c.94973T>A (p.Val31658Glu)
c.68867T>A (p.Val22956Glu)
c.68726T>A (p.Val22909Glu)
c.94769T>A (p.Val31590Glu)
c.90167T>A (p.Val30056Glu)
c.90164T>A (p.Val30055Glu)
c.87206T>A (p.Val29069Glu)
c.68822T>A (p.Val22941Glu)
c.90317T>A (p.Val30106Glu)
c.90314T>A (p.Val30105Glu)
c.89747T>A (p.Val29916Glu)
c.87089T>A (p.Val29030Glu)
c.87008T>A (p.Val29003Glu)
c.68771T>A (p.Val22924Glu)
c.58625T>A (p.Val19542Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178544354C>ACA349456531TTN,TTN-AS1c.88171G>T (p.Val29391Leu)
c.69256G>T (p.Val23086Leu)
c.69055G>T (p.Val23019Leu)
c.68680G>T (p.Val22894Leu)
c.95875G>T (p.Val31959Leu)
c.90952G>T (p.Val30318Leu)
n.446+20718C>A
n.2043+1993C>A
c.94972G>T (p.Val31658Leu)
c.68866G>T (p.Val22956Leu)
c.68725G>T (p.Val22909Leu)
c.94768G>T (p.Val31590Leu)
c.90166G>T (p.Val30056Leu)
c.90163G>T (p.Val30055Leu)
c.87205G>T (p.Val29069Leu)
c.68821G>T (p.Val22941Leu)
c.90316G>T (p.Val30106Leu)
c.90313G>T (p.Val30105Leu)
c.89746G>T (p.Val29916Leu)
c.87088G>T (p.Val29030Leu)
c.87007G>T (p.Val29003Leu)
c.68770G>T (p.Val22924Leu)
c.58624G>T (p.Val19542Leu)
2g.178544354C=CA1310521538TTN,TTN-AS1c.88171G= (p.Val29391=)
c.69256G= (p.Val23086=)
c.69055G= (p.Val23019=)
c.68680G= (p.Val22894=)
c.95875G= (p.Val31959=)
c.90952G= (p.Val30318=)
n.446+20718C=
n.2043+1993C=
c.94972G= (p.Val31658=)
c.68866G= (p.Val22956=)
c.68725G= (p.Val22909=)
c.94768G= (p.Val31590=)
c.90166G= (p.Val30056=)
c.90163G= (p.Val30055=)
c.87205G= (p.Val29069=)
c.68821G= (p.Val22941=)
c.90316G= (p.Val30106=)
c.90313G= (p.Val30105=)
c.89746G= (p.Val29916=)
c.87088G= (p.Val29030=)
c.87007G= (p.Val29003=)
c.68770G= (p.Val22924=)
c.58624G= (p.Val19542=)
2g.178544354C>GCA349456533TTN,TTN-AS1c.88171G>C (p.Val29391Leu)
c.69256G>C (p.Val23086Leu)
c.69055G>C (p.Val23019Leu)
c.68680G>C (p.Val22894Leu)
c.95875G>C (p.Val31959Leu)
c.90952G>C (p.Val30318Leu)
n.446+20718C>G
n.2043+1993C>G
c.94972G>C (p.Val31658Leu)
c.68866G>C (p.Val22956Leu)
c.68725G>C (p.Val22909Leu)
c.94768G>C (p.Val31590Leu)
c.90166G>C (p.Val30056Leu)
c.90163G>C (p.Val30055Leu)
c.87205G>C (p.Val29069Leu)
c.68821G>C (p.Val22941Leu)
c.90316G>C (p.Val30106Leu)
c.90313G>C (p.Val30105Leu)
c.89746G>C (p.Val29916Leu)
c.87088G>C (p.Val29030Leu)
c.87007G>C (p.Val29003Leu)
c.68770G>C (p.Val22924Leu)
c.58624G>C (p.Val19542Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178544354C>TCA349456534TTN,TTN-AS1c.88171G>A (p.Val29391Met)
c.69256G>A (p.Val23086Met)
c.69055G>A (p.Val23019Met)
c.68680G>A (p.Val22894Met)
c.95875G>A (p.Val31959Met)
c.90952G>A (p.Val30318Met)
n.446+20718C>T
n.2043+1993C>T
c.94972G>A (p.Val31658Met)
c.68866G>A (p.Val22956Met)
c.68725G>A (p.Val22909Met)
c.94768G>A (p.Val31590Met)
c.90166G>A (p.Val30056Met)
c.90163G>A (p.Val30055Met)
c.87205G>A (p.Val29069Met)
c.68821G>A (p.Val22941Met)
c.90316G>A (p.Val30106Met)
c.90313G>A (p.Val30105Met)
c.89746G>A (p.Val29916Met)
c.87088G>A (p.Val29030Met)
c.87007G>A (p.Val29003Met)
c.68770G>A (p.Val22924Met)
c.58624G>A (p.Val19542Met)
2g.178544355T>ACA430241816TTN,TTN-AS1c.88170A>T (p.Arg29390=)
c.69255A>T (p.Arg23085=)
c.69054A>T (p.Arg23018=)
c.68679A>T (p.Arg22893=)
c.95874A>T (p.Arg31958=)
c.90951A>T (p.Arg30317=)
n.446+20719T>A
n.2043+1994T>A
c.94971A>T (p.Arg31657=)
c.68865A>T (p.Arg22955=)
c.68724A>T (p.Arg22908=)
c.94767A>T (p.Arg31589=)
c.90165A>T (p.Arg30055=)
c.90162A>T (p.Arg30054=)
c.87204A>T (p.Arg29068=)
c.68820A>T (p.Arg22940=)
c.90315A>T (p.Arg30105=)
c.90312A>T (p.Arg30104=)
c.89745A>T (p.Arg29915=)
c.87087A>T (p.Arg29029=)
c.87006A>T (p.Arg29002=)
c.68769A>T (p.Arg22923=)
c.58623A>T (p.Arg19541=)
2g.178544355T>CCA430241817TTN,TTN-AS1c.88170A>G (p.Arg29390=)
c.69255A>G (p.Arg23085=)
c.69054A>G (p.Arg23018=)
c.68679A>G (p.Arg22893=)
c.95874A>G (p.Arg31958=)
c.90951A>G (p.Arg30317=)
n.446+20719T>C
n.2043+1994T>C
c.94971A>G (p.Arg31657=)
c.68865A>G (p.Arg22955=)
c.68724A>G (p.Arg22908=)
c.94767A>G (p.Arg31589=)
c.90165A>G (p.Arg30055=)
c.90162A>G (p.Arg30054=)
c.87204A>G (p.Arg29068=)
c.68820A>G (p.Arg22940=)
c.90315A>G (p.Arg30105=)
c.90312A>G (p.Arg30104=)
c.89745A>G (p.Arg29915=)
c.87087A>G (p.Arg29029=)
c.87006A>G (p.Arg29002=)
c.68769A>G (p.Arg22923=)
c.58623A>G (p.Arg19541=)
 ClinVar
2g.178544355T>GCA430241818TTN,TTN-AS1c.88170A>C (p.Arg29390=)
c.69255A>C (p.Arg23085=)
c.69054A>C (p.Arg23018=)
c.68679A>C (p.Arg22893=)
c.95874A>C (p.Arg31958=)
c.90951A>C (p.Arg30317=)
n.446+20719T>G
n.2043+1994T>G
c.94971A>C (p.Arg31657=)
c.68865A>C (p.Arg22955=)
c.68724A>C (p.Arg22908=)
c.94767A>C (p.Arg31589=)
c.90165A>C (p.Arg30055=)
c.90162A>C (p.Arg30054=)
c.87204A>C (p.Arg29068=)
c.68820A>C (p.Arg22940=)
c.90315A>C (p.Arg30105=)
c.90312A>C (p.Arg30104=)
c.89745A>C (p.Arg29915=)
c.87087A>C (p.Arg29029=)
c.87006A>C (p.Arg29002=)
c.68769A>C (p.Arg22923=)
c.58623A>C (p.Arg19541=)
2g.178544356C>ACA349456541TTN,TTN-AS1c.88169G>T (p.Arg29390Leu)
c.69254G>T (p.Arg23085Leu)
c.69053G>T (p.Arg23018Leu)
c.68678G>T (p.Arg22893Leu)
c.95873G>T (p.Arg31958Leu)
c.90950G>T (p.Arg30317Leu)
n.446+20720C>A
n.2043+1995C>A
c.94970G>T (p.Arg31657Leu)
c.68864G>T (p.Arg22955Leu)
c.68723G>T (p.Arg22908Leu)
c.94766G>T (p.Arg31589Leu)
c.90164G>T (p.Arg30055Leu)
c.90161G>T (p.Arg30054Leu)
c.87203G>T (p.Arg29068Leu)
c.68819G>T (p.Arg22940Leu)
c.90314G>T (p.Arg30105Leu)
c.90311G>T (p.Arg30104Leu)
c.89744G>T (p.Arg29915Leu)
c.87086G>T (p.Arg29029Leu)
c.87005G>T (p.Arg29002Leu)
c.68768G>T (p.Arg22923Leu)
c.58622G>T (p.Arg19541Leu)
2g.178544356C=CA1310521540TTN,TTN-AS1c.88169G= (p.Arg29390=)
c.69254G= (p.Arg23085=)
c.69053G= (p.Arg23018=)
c.68678G= (p.Arg22893=)
c.95873G= (p.Arg31958=)
c.90950G= (p.Arg30317=)
n.446+20720C=
n.2043+1995C=
c.94970G= (p.Arg31657=)
c.68864G= (p.Arg22955=)
c.68723G= (p.Arg22908=)
c.94766G= (p.Arg31589=)
c.90164G= (p.Arg30055=)
c.90161G= (p.Arg30054=)
c.87203G= (p.Arg29068=)
c.68819G= (p.Arg22940=)
c.90314G= (p.Arg30105=)
c.90311G= (p.Arg30104=)
c.89744G= (p.Arg29915=)
c.87086G= (p.Arg29029=)
c.87005G= (p.Arg29002=)
c.68768G= (p.Arg22923=)
c.58622G= (p.Arg19541=)
2g.178544356C>GCA349456544TTN,TTN-AS1c.88169G>C (p.Arg29390Pro)
c.69254G>C (p.Arg23085Pro)
c.69053G>C (p.Arg23018Pro)
c.68678G>C (p.Arg22893Pro)
c.95873G>C (p.Arg31958Pro)
c.90950G>C (p.Arg30317Pro)
n.446+20720C>G
n.2043+1995C>G
c.94970G>C (p.Arg31657Pro)
c.68864G>C (p.Arg22955Pro)
c.68723G>C (p.Arg22908Pro)
c.94766G>C (p.Arg31589Pro)
c.90164G>C (p.Arg30055Pro)
c.90161G>C (p.Arg30054Pro)
c.87203G>C (p.Arg29068Pro)
c.68819G>C (p.Arg22940Pro)
c.90314G>C (p.Arg30105Pro)
c.90311G>C (p.Arg30104Pro)
c.89744G>C (p.Arg29915Pro)
c.87086G>C (p.Arg29029Pro)
c.87005G>C (p.Arg29002Pro)
c.68768G>C (p.Arg22923Pro)
c.58622G>C (p.Arg19541Pro)
2g.178544356C>TCA310989TTN,TTN-AS1c.88169G>A (p.Arg29390Gln)
c.69254G>A (p.Arg23085Gln)
c.69053G>A (p.Arg23018Gln)
c.68678G>A (p.Arg22893Gln)
c.95873G>A (p.Arg31958Gln)
c.90950G>A (p.Arg30317Gln)
n.446+20720C>T
n.2043+1995C>T
c.94970G>A (p.Arg31657Gln)
c.68864G>A (p.Arg22955Gln)
c.68723G>A (p.Arg22908Gln)
c.94766G>A (p.Arg31589Gln)
c.90164G>A (p.Arg30055Gln)
c.90161G>A (p.Arg30054Gln)
c.87203G>A (p.Arg29068Gln)
c.68819G>A (p.Arg22940Gln)
c.90314G>A (p.Arg30105Gln)
c.90311G>A (p.Arg30104Gln)
c.89744G>A (p.Arg29915Gln)
c.87086G>A (p.Arg29029Gln)
c.87005G>A (p.Arg29002Gln)
c.68768G>A (p.Arg22923Gln)
c.58622G>A (p.Arg19541Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178544357G>ACA349456554TTN,TTN-AS1c.88168C>T (p.Arg29390Ter)
c.69253C>T (p.Arg23085Ter)
c.69052C>T (p.Arg23018Ter)
c.68677C>T (p.Arg22893Ter)
c.95872C>T (p.Arg31958Ter)
c.90949C>T (p.Arg30317Ter)
n.446+20721G>A
n.2043+1996G>A
c.94969C>T (p.Arg31657Ter)
c.68863C>T (p.Arg22955Ter)
c.68722C>T (p.Arg22908Ter)
c.94765C>T (p.Arg31589Ter)
c.90163C>T (p.Arg30055Ter)
c.90160C>T (p.Arg30054Ter)
c.87202C>T (p.Arg29068Ter)
c.68818C>T (p.Arg22940Ter)
c.90313C>T (p.Arg30105Ter)
c.90310C>T (p.Arg30104Ter)
c.89743C>T (p.Arg29915Ter)
c.87085C>T (p.Arg29029Ter)
c.87004C>T (p.Arg29002Ter)
c.68767C>T (p.Arg22923Ter)
c.58621C>T (p.Arg19541Ter)
 ClinVar dbSNP gnomAD v4
2g.178544357G>CCA349456558TTN,TTN-AS1c.88168C>G (p.Arg29390Gly)
c.69253C>G (p.Arg23085Gly)
c.69052C>G (p.Arg23018Gly)
c.68677C>G (p.Arg22893Gly)
c.95872C>G (p.Arg31958Gly)
c.90949C>G (p.Arg30317Gly)
n.446+20721G>C
n.2043+1996G>C
c.94969C>G (p.Arg31657Gly)
c.68863C>G (p.Arg22955Gly)
c.68722C>G (p.Arg22908Gly)
c.94765C>G (p.Arg31589Gly)
c.90163C>G (p.Arg30055Gly)
c.90160C>G (p.Arg30054Gly)
c.87202C>G (p.Arg29068Gly)
c.68818C>G (p.Arg22940Gly)
c.90313C>G (p.Arg30105Gly)
c.90310C>G (p.Arg30104Gly)
c.89743C>G (p.Arg29915Gly)
c.87085C>G (p.Arg29029Gly)
c.87004C>G (p.Arg29002Gly)
c.68767C>G (p.Arg22923Gly)
c.58621C>G (p.Arg19541Gly)
2g.178544357G>TCA430241822TTN,TTN-AS1c.88168C>A (p.Arg29390=)
c.69253C>A (p.Arg23085=)
c.69052C>A (p.Arg23018=)
c.68677C>A (p.Arg22893=)
c.95872C>A (p.Arg31958=)
c.90949C>A (p.Arg30317=)
n.446+20721G>T
n.2043+1996G>T
c.94969C>A (p.Arg31657=)
c.68863C>A (p.Arg22955=)
c.68722C>A (p.Arg22908=)
c.94765C>A (p.Arg31589=)
c.90163C>A (p.Arg30055=)
c.90160C>A (p.Arg30054=)
c.87202C>A (p.Arg29068=)
c.68818C>A (p.Arg22940=)
c.90313C>A (p.Arg30105=)
c.90310C>A (p.Arg30104=)
c.89743C>A (p.Arg29915=)
c.87085C>A (p.Arg29029=)
c.87004C>A (p.Arg29002=)
c.68767C>A (p.Arg22923=)
c.58621C>A (p.Arg19541=)
2g.178544358G>ACA430241823TTN,TTN-AS1c.88167C>T (p.Tyr29389=)
c.69252C>T (p.Tyr23084=)
c.69051C>T (p.Tyr23017=)
c.68676C>T (p.Tyr22892=)
c.95871C>T (p.Tyr31957=)
c.90948C>T (p.Tyr30316=)
n.446+20722G>A
n.2043+1997G>A
c.94968C>T (p.Tyr31656=)
c.68862C>T (p.Tyr22954=)
c.68721C>T (p.Tyr22907=)
c.94764C>T (p.Tyr31588=)
c.90162C>T (p.Tyr30054=)
c.90159C>T (p.Tyr30053=)
c.87201C>T (p.Tyr29067=)
c.68817C>T (p.Tyr22939=)
c.90312C>T (p.Tyr30104=)
c.90309C>T (p.Tyr30103=)
c.89742C>T (p.Tyr29914=)
c.87084C>T (p.Tyr29028=)
c.87003C>T (p.Tyr29001=)
c.68766C>T (p.Tyr22922=)
c.58620C>T (p.Tyr19540=)
2g.178544358G>CCA349456561TTN,TTN-AS1c.88167C>G (p.Tyr29389Ter)
c.69252C>G (p.Tyr23084Ter)
c.69051C>G (p.Tyr23017Ter)
c.68676C>G (p.Tyr22892Ter)
c.95871C>G (p.Tyr31957Ter)
c.90948C>G (p.Tyr30316Ter)
n.446+20722G>C
n.2043+1997G>C
c.94968C>G (p.Tyr31656Ter)
c.68862C>G (p.Tyr22954Ter)
c.68721C>G (p.Tyr22907Ter)
c.94764C>G (p.Tyr31588Ter)
c.90162C>G (p.Tyr30054Ter)
c.90159C>G (p.Tyr30053Ter)
c.87201C>G (p.Tyr29067Ter)
c.68817C>G (p.Tyr22939Ter)
c.90312C>G (p.Tyr30104Ter)
c.90309C>G (p.Tyr30103Ter)
c.89742C>G (p.Tyr29914Ter)
c.87084C>G (p.Tyr29028Ter)
c.87003C>G (p.Tyr29001Ter)
c.68766C>G (p.Tyr22922Ter)
c.58620C>G (p.Tyr19540Ter)
 COSMIC COSMIC COSMIC COSMIC
2g.178544358G>TCA349456565TTN,TTN-AS1c.88167C>A (p.Tyr29389Ter)
c.69252C>A (p.Tyr23084Ter)
c.69051C>A (p.Tyr23017Ter)
c.68676C>A (p.Tyr22892Ter)
c.95871C>A (p.Tyr31957Ter)
c.90948C>A (p.Tyr30316Ter)
n.446+20722G>T
n.2043+1997G>T
c.94968C>A (p.Tyr31656Ter)
c.68862C>A (p.Tyr22954Ter)
c.68721C>A (p.Tyr22907Ter)
c.94764C>A (p.Tyr31588Ter)
c.90162C>A (p.Tyr30054Ter)
c.90159C>A (p.Tyr30053Ter)
c.87201C>A (p.Tyr29067Ter)
c.68817C>A (p.Tyr22939Ter)
c.90312C>A (p.Tyr30104Ter)
c.90309C>A (p.Tyr30103Ter)
c.89742C>A (p.Tyr29914Ter)
c.87084C>A (p.Tyr29028Ter)
c.87003C>A (p.Tyr29001Ter)
c.68766C>A (p.Tyr22922Ter)
c.58620C>A (p.Tyr19540Ter)
2g.178544359T>ACA349456569TTN,TTN-AS1c.88166A>T (p.Tyr29389Phe)
c.69251A>T (p.Tyr23084Phe)
c.69050A>T (p.Tyr23017Phe)
c.68675A>T (p.Tyr22892Phe)
c.95870A>T (p.Tyr31957Phe)
c.90947A>T (p.Tyr30316Phe)
n.446+20723T>A
n.2043+1998T>A
c.94967A>T (p.Tyr31656Phe)
c.68861A>T (p.Tyr22954Phe)
c.68720A>T (p.Tyr22907Phe)
c.94763A>T (p.Tyr31588Phe)
c.90161A>T (p.Tyr30054Phe)
c.90158A>T (p.Tyr30053Phe)
c.87200A>T (p.Tyr29067Phe)
c.68816A>T (p.Tyr22939Phe)
c.90311A>T (p.Tyr30104Phe)
c.90308A>T (p.Tyr30103Phe)
c.89741A>T (p.Tyr29914Phe)
c.87083A>T (p.Tyr29028Phe)
c.87002A>T (p.Tyr29001Phe)
c.68765A>T (p.Tyr22922Phe)
c.58619A>T (p.Tyr19540Phe)
2g.178544359T>CCA349456570TTN,TTN-AS1c.88166A>G (p.Tyr29389Cys)
c.69251A>G (p.Tyr23084Cys)
c.69050A>G (p.Tyr23017Cys)
c.68675A>G (p.Tyr22892Cys)
c.95870A>G (p.Tyr31957Cys)
c.90947A>G (p.Tyr30316Cys)
n.446+20723T>C
n.2043+1998T>C
c.94967A>G (p.Tyr31656Cys)
c.68861A>G (p.Tyr22954Cys)
c.68720A>G (p.Tyr22907Cys)
c.94763A>G (p.Tyr31588Cys)
c.90161A>G (p.Tyr30054Cys)
c.90158A>G (p.Tyr30053Cys)
c.87200A>G (p.Tyr29067Cys)
c.68816A>G (p.Tyr22939Cys)
c.90311A>G (p.Tyr30104Cys)
c.90308A>G (p.Tyr30103Cys)
c.89741A>G (p.Tyr29914Cys)
c.87083A>G (p.Tyr29028Cys)
c.87002A>G (p.Tyr29001Cys)
c.68765A>G (p.Tyr22922Cys)
c.58619A>G (p.Tyr19540Cys)
2g.178544359T>GCA349456571TTN,TTN-AS1c.88166A>C (p.Tyr29389Ser)
c.69251A>C (p.Tyr23084Ser)
c.69050A>C (p.Tyr23017Ser)
c.68675A>C (p.Tyr22892Ser)
c.95870A>C (p.Tyr31957Ser)
c.90947A>C (p.Tyr30316Ser)
n.446+20723T>G
n.2043+1998T>G
c.94967A>C (p.Tyr31656Ser)
c.68861A>C (p.Tyr22954Ser)
c.68720A>C (p.Tyr22907Ser)
c.94763A>C (p.Tyr31588Ser)
c.90161A>C (p.Tyr30054Ser)
c.90158A>C (p.Tyr30053Ser)
c.87200A>C (p.Tyr29067Ser)
c.68816A>C (p.Tyr22939Ser)
c.90311A>C (p.Tyr30104Ser)
c.90308A>C (p.Tyr30103Ser)
c.89741A>C (p.Tyr29914Ser)
c.87083A>C (p.Tyr29028Ser)
c.87002A>C (p.Tyr29001Ser)
c.68765A>C (p.Tyr22922Ser)
c.58619A>C (p.Tyr19540Ser)
2g.178544360A=CA1310521542TTN,TTN-AS1c.88165T= (p.Tyr29389=)
c.69250T= (p.Tyr23084=)
c.69049T= (p.Tyr23017=)
c.68674T= (p.Tyr22892=)
c.95869T= (p.Tyr31957=)
c.90946T= (p.Tyr30316=)
n.446+20724A=
n.2043+1999A=
c.94966T= (p.Tyr31656=)
c.68860T= (p.Tyr22954=)
c.68719T= (p.Tyr22907=)
c.94762T= (p.Tyr31588=)
c.90160T= (p.Tyr30054=)
c.90157T= (p.Tyr30053=)
c.87199T= (p.Tyr29067=)
c.68815T= (p.Tyr22939=)
c.90310T= (p.Tyr30104=)
c.90307T= (p.Tyr30103=)
c.89740T= (p.Tyr29914=)
c.87082T= (p.Tyr29028=)
c.87001T= (p.Tyr29001=)
c.68764T= (p.Tyr22922=)
c.58618T= (p.Tyr19540=)
2g.178544360A>CCA349456572TTN,TTN-AS1c.88165T>G (p.Tyr29389Asp)
c.69250T>G (p.Tyr23084Asp)
c.69049T>G (p.Tyr23017Asp)
c.68674T>G (p.Tyr22892Asp)
c.95869T>G (p.Tyr31957Asp)
c.90946T>G (p.Tyr30316Asp)
n.446+20724A>C
n.2043+1999A>C
c.94966T>G (p.Tyr31656Asp)
c.68860T>G (p.Tyr22954Asp)
c.68719T>G (p.Tyr22907Asp)
c.94762T>G (p.Tyr31588Asp)
c.90160T>G (p.Tyr30054Asp)
c.90157T>G (p.Tyr30053Asp)
c.87199T>G (p.Tyr29067Asp)
c.68815T>G (p.Tyr22939Asp)
c.90310T>G (p.Tyr30104Asp)
c.90307T>G (p.Tyr30103Asp)
c.89740T>G (p.Tyr29914Asp)
c.87082T>G (p.Tyr29028Asp)
c.87001T>G (p.Tyr29001Asp)
c.68764T>G (p.Tyr22922Asp)
c.58618T>G (p.Tyr19540Asp)
2g.178544360A>GCA349456584TTN,TTN-AS1c.88165T>C (p.Tyr29389His)
c.69250T>C (p.Tyr23084His)
c.69049T>C (p.Tyr23017His)
c.68674T>C (p.Tyr22892His)
c.95869T>C (p.Tyr31957His)
c.90946T>C (p.Tyr30316His)
n.446+20724A>G
n.2043+1999A>G
c.94966T>C (p.Tyr31656His)
c.68860T>C (p.Tyr22954His)
c.68719T>C (p.Tyr22907His)
c.94762T>C (p.Tyr31588His)
c.90160T>C (p.Tyr30054His)
c.90157T>C (p.Tyr30053His)
c.87199T>C (p.Tyr29067His)
c.68815T>C (p.Tyr22939His)
c.90310T>C (p.Tyr30104His)
c.90307T>C (p.Tyr30103His)
c.89740T>C (p.Tyr29914His)
c.87082T>C (p.Tyr29028His)
c.87001T>C (p.Tyr29001His)
c.68764T>C (p.Tyr22922His)
c.58618T>C (p.Tyr19540His)
 dbSNP gnomAD v2 gnomAD v4
2g.178544360A>TCA349456573TTN,TTN-AS1c.88165T>A (p.Tyr29389Asn)
c.69250T>A (p.Tyr23084Asn)
c.69049T>A (p.Tyr23017Asn)
c.68674T>A (p.Tyr22892Asn)
c.95869T>A (p.Tyr31957Asn)
c.90946T>A (p.Tyr30316Asn)
n.446+20724A>T
n.2043+1999A>T
c.94966T>A (p.Tyr31656Asn)
c.68860T>A (p.Tyr22954Asn)
c.68719T>A (p.Tyr22907Asn)
c.94762T>A (p.Tyr31588Asn)
c.90160T>A (p.Tyr30054Asn)
c.90157T>A (p.Tyr30053Asn)
c.87199T>A (p.Tyr29067Asn)
c.68815T>A (p.Tyr22939Asn)
c.90310T>A (p.Tyr30104Asn)
c.90307T>A (p.Tyr30103Asn)
c.89740T>A (p.Tyr29914Asn)
c.87082T>A (p.Tyr29028Asn)
c.87001T>A (p.Tyr29001Asn)
c.68764T>A (p.Tyr22922Asn)
c.58618T>A (p.Tyr19540Asn)
2g.178544361C>ACA349456587TTN,TTN-AS1c.88164G>T (p.Trp29388Cys)
c.69249G>T (p.Trp23083Cys)
c.69048G>T (p.Trp23016Cys)
c.68673G>T (p.Trp22891Cys)
c.95868G>T (p.Trp31956Cys)
c.90945G>T (p.Trp30315Cys)
n.446+20725C>A
n.2043+2000C>A
c.94965G>T (p.Trp31655Cys)
c.68859G>T (p.Trp22953Cys)
c.68718G>T (p.Trp22906Cys)
c.94761G>T (p.Trp31587Cys)
c.90159G>T (p.Trp30053Cys)
c.90156G>T (p.Trp30052Cys)
c.87198G>T (p.Trp29066Cys)
c.68814G>T (p.Trp22938Cys)
c.90309G>T (p.Trp30103Cys)
c.90306G>T (p.Trp30102Cys)
c.89739G>T (p.Trp29913Cys)
c.87081G>T (p.Trp29027Cys)
c.87000G>T (p.Trp29000Cys)
c.68763G>T (p.Trp22921Cys)
c.58617G>T (p.Trp19539Cys)
2g.178544361C>GCA349456606TTN,TTN-AS1c.88164G>C (p.Trp29388Cys)
c.69249G>C (p.Trp23083Cys)
c.69048G>C (p.Trp23016Cys)
c.68673G>C (p.Trp22891Cys)
c.95868G>C (p.Trp31956Cys)
c.90945G>C (p.Trp30315Cys)
n.446+20725C>G
n.2043+2000C>G
c.94965G>C (p.Trp31655Cys)
c.68859G>C (p.Trp22953Cys)
c.68718G>C (p.Trp22906Cys)
c.94761G>C (p.Trp31587Cys)
c.90159G>C (p.Trp30053Cys)
c.90156G>C (p.Trp30052Cys)
c.87198G>C (p.Trp29066Cys)
c.68814G>C (p.Trp22938Cys)
c.90309G>C (p.Trp30103Cys)
c.90306G>C (p.Trp30102Cys)
c.89739G>C (p.Trp29913Cys)
c.87081G>C (p.Trp29027Cys)
c.87000G>C (p.Trp29000Cys)
c.68763G>C (p.Trp22921Cys)
c.58617G>C (p.Trp19539Cys)
2g.178544361C>TCA349456608TTN,TTN-AS1c.88164G>A (p.Trp29388Ter)
c.69249G>A (p.Trp23083Ter)
c.69048G>A (p.Trp23016Ter)
c.68673G>A (p.Trp22891Ter)
c.95868G>A (p.Trp31956Ter)
c.90945G>A (p.Trp30315Ter)
n.446+20725C>T
n.2043+2000C>T
c.94965G>A (p.Trp31655Ter)
c.68859G>A (p.Trp22953Ter)
c.68718G>A (p.Trp22906Ter)
c.94761G>A (p.Trp31587Ter)
c.90159G>A (p.Trp30053Ter)
c.90156G>A (p.Trp30052Ter)
c.87198G>A (p.Trp29066Ter)
c.68814G>A (p.Trp22938Ter)
c.90309G>A (p.Trp30103Ter)
c.90306G>A (p.Trp30102Ter)
c.89739G>A (p.Trp29913Ter)
c.87081G>A (p.Trp29027Ter)
c.87000G>A (p.Trp29000Ter)
c.68763G>A (p.Trp22921Ter)
c.58617G>A (p.Trp19539Ter)
2g.178544362C>ACA349456611TTN,TTN-AS1c.88163G>T (p.Trp29388Leu)
c.69248G>T (p.Trp23083Leu)
c.69047G>T (p.Trp23016Leu)
c.68672G>T (p.Trp22891Leu)
c.95867G>T (p.Trp31956Leu)
c.90944G>T (p.Trp30315Leu)
n.446+20726C>A
n.2043+2001C>A
c.94964G>T (p.Trp31655Leu)
c.68858G>T (p.Trp22953Leu)
c.68717G>T (p.Trp22906Leu)
c.94760G>T (p.Trp31587Leu)
c.90158G>T (p.Trp30053Leu)
c.90155G>T (p.Trp30052Leu)
c.87197G>T (p.Trp29066Leu)
c.68813G>T (p.Trp22938Leu)
c.90308G>T (p.Trp30103Leu)
c.90305G>T (p.Trp30102Leu)
c.89738G>T (p.Trp29913Leu)
c.87080G>T (p.Trp29027Leu)
c.86999G>T (p.Trp29000Leu)
c.68762G>T (p.Trp22921Leu)
c.58616G>T (p.Trp19539Leu)
2g.178544362C>GCA349456613TTN,TTN-AS1c.88163G>C (p.Trp29388Ser)
c.69248G>C (p.Trp23083Ser)
c.69047G>C (p.Trp23016Ser)
c.68672G>C (p.Trp22891Ser)
c.95867G>C (p.Trp31956Ser)
c.90944G>C (p.Trp30315Ser)
n.446+20726C>G
n.2043+2001C>G
c.94964G>C (p.Trp31655Ser)
c.68858G>C (p.Trp22953Ser)
c.68717G>C (p.Trp22906Ser)
c.94760G>C (p.Trp31587Ser)
c.90158G>C (p.Trp30053Ser)
c.90155G>C (p.Trp30052Ser)
c.87197G>C (p.Trp29066Ser)
c.68813G>C (p.Trp22938Ser)
c.90308G>C (p.Trp30103Ser)
c.90305G>C (p.Trp30102Ser)
c.89738G>C (p.Trp29913Ser)
c.87080G>C (p.Trp29027Ser)
c.86999G>C (p.Trp29000Ser)
c.68762G>C (p.Trp22921Ser)
c.58616G>C (p.Trp19539Ser)
 gnomAD v4
2g.178544362C>TCA349456619TTN,TTN-AS1c.88163G>A (p.Trp29388Ter)
c.69248G>A (p.Trp23083Ter)
c.69047G>A (p.Trp23016Ter)
c.68672G>A (p.Trp22891Ter)
c.95867G>A (p.Trp31956Ter)
c.90944G>A (p.Trp30315Ter)
n.446+20726C>T
n.2043+2001C>T
c.94964G>A (p.Trp31655Ter)
c.68858G>A (p.Trp22953Ter)
c.68717G>A (p.Trp22906Ter)
c.94760G>A (p.Trp31587Ter)
c.90158G>A (p.Trp30053Ter)
c.90155G>A (p.Trp30052Ter)
c.87197G>A (p.Trp29066Ter)
c.68813G>A (p.Trp22938Ter)
c.90308G>A (p.Trp30103Ter)
c.90305G>A (p.Trp30102Ter)
c.89738G>A (p.Trp29913Ter)
c.87080G>A (p.Trp29027Ter)
c.86999G>A (p.Trp29000Ter)
c.68762G>A (p.Trp22921Ter)
c.58616G>A (p.Trp19539Ter)
2g.178544363A=CA1310521544TTN,TTN-AS1c.88162T= (p.Trp29388=)
c.69247T= (p.Trp23083=)
c.69046T= (p.Trp23016=)
c.68671T= (p.Trp22891=)
c.95866T= (p.Trp31956=)
c.90943T= (p.Trp30315=)
n.446+20727A=
n.2043+2002A=
c.94963T= (p.Trp31655=)
c.68857T= (p.Trp22953=)
c.68716T= (p.Trp22906=)
c.94759T= (p.Trp31587=)
c.90157T= (p.Trp30053=)
c.90154T= (p.Trp30052=)
c.87196T= (p.Trp29066=)
c.68812T= (p.Trp22938=)
c.90307T= (p.Trp30103=)
c.90304T= (p.Trp30102=)
c.89737T= (p.Trp29913=)
c.87079T= (p.Trp29027=)
c.86998T= (p.Trp29000=)
c.68761T= (p.Trp22921=)
c.58615T= (p.Trp19539=)
2g.178544363A>CCA349456622TTN,TTN-AS1c.88162T>G (p.Trp29388Gly)
c.69247T>G (p.Trp23083Gly)
c.69046T>G (p.Trp23016Gly)
c.68671T>G (p.Trp22891Gly)
c.95866T>G (p.Trp31956Gly)
c.90943T>G (p.Trp30315Gly)
n.446+20727A>C
n.2043+2002A>C
c.94963T>G (p.Trp31655Gly)
c.68857T>G (p.Trp22953Gly)
c.68716T>G (p.Trp22906Gly)
c.94759T>G (p.Trp31587Gly)
c.90157T>G (p.Trp30053Gly)
c.90154T>G (p.Trp30052Gly)
c.87196T>G (p.Trp29066Gly)
c.68812T>G (p.Trp22938Gly)
c.90307T>G (p.Trp30103Gly)
c.90304T>G (p.Trp30102Gly)
c.89737T>G (p.Trp29913Gly)
c.87079T>G (p.Trp29027Gly)
c.86998T>G (p.Trp29000Gly)
c.68761T>G (p.Trp22921Gly)
c.58615T>G (p.Trp19539Gly)
2g.178544363A>GCA349456624TTN,TTN-AS1c.88162T>C (p.Trp29388Arg)
c.69247T>C (p.Trp23083Arg)
c.69046T>C (p.Trp23016Arg)
c.68671T>C (p.Trp22891Arg)
c.95866T>C (p.Trp31956Arg)
c.90943T>C (p.Trp30315Arg)
n.446+20727A>G
n.2043+2002A>G
c.94963T>C (p.Trp31655Arg)
c.68857T>C (p.Trp22953Arg)
c.68716T>C (p.Trp22906Arg)
c.94759T>C (p.Trp31587Arg)
c.90157T>C (p.Trp30053Arg)
c.90154T>C (p.Trp30052Arg)
c.87196T>C (p.Trp29066Arg)
c.68812T>C (p.Trp22938Arg)
c.90307T>C (p.Trp30103Arg)
c.90304T>C (p.Trp30102Arg)
c.89737T>C (p.Trp29913Arg)
c.87079T>C (p.Trp29027Arg)
c.86998T>C (p.Trp29000Arg)
c.68761T>C (p.Trp22921Arg)
c.58615T>C (p.Trp19539Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.178544363A>TCA349456629TTN,TTN-AS1c.88162T>A (p.Trp29388Arg)
c.69247T>A (p.Trp23083Arg)
c.69046T>A (p.Trp23016Arg)
c.68671T>A (p.Trp22891Arg)
c.95866T>A (p.Trp31956Arg)
c.90943T>A (p.Trp30315Arg)
n.446+20727A>T
n.2043+2002A>T
c.94963T>A (p.Trp31655Arg)
c.68857T>A (p.Trp22953Arg)
c.68716T>A (p.Trp22906Arg)
c.94759T>A (p.Trp31587Arg)
c.90157T>A (p.Trp30053Arg)
c.90154T>A (p.Trp30052Arg)
c.87196T>A (p.Trp29066Arg)
c.68812T>A (p.Trp22938Arg)
c.90307T>A (p.Trp30103Arg)
c.90304T>A (p.Trp30102Arg)
c.89737T>A (p.Trp29913Arg)
c.87079T>A (p.Trp29027Arg)
c.86998T>A (p.Trp29000Arg)
c.68761T>A (p.Trp22921Arg)
c.58615T>A (p.Trp19539Arg)
2g.178544364C>ACA349456637TTN,TTN-AS1c.88161G>T (p.Gln29387His)
c.69246G>T (p.Gln23082His)
c.69045G>T (p.Gln23015His)
c.68670G>T (p.Gln22890His)
c.95865G>T (p.Gln31955His)
c.90942G>T (p.Gln30314His)
n.446+20728C>A
n.2043+2003C>A
c.94962G>T (p.Gln31654His)
c.68856G>T (p.Gln22952His)
c.68715G>T (p.Gln22905His)
c.94758G>T (p.Gln31586His)
c.90156G>T (p.Gln30052His)
c.90153G>T (p.Gln30051His)
c.87195G>T (p.Gln29065His)
c.68811G>T (p.Gln22937His)
c.90306G>T (p.Gln30102His)
c.90303G>T (p.Gln30101His)
c.89736G>T (p.Gln29912His)
c.87078G>T (p.Gln29026His)
c.86997G>T (p.Gln28999His)
c.68760G>T (p.Gln22920His)
c.58614G>T (p.Gln19538His)
2g.178544364C=CA1310521546TTN,TTN-AS1c.88161G= (p.Gln29387=)
c.69246G= (p.Gln23082=)
c.69045G= (p.Gln23015=)
c.68670G= (p.Gln22890=)
c.95865G= (p.Gln31955=)
c.90942G= (p.Gln30314=)
n.446+20728C=
n.2043+2003C=
c.94962G= (p.Gln31654=)
c.68856G= (p.Gln22952=)
c.68715G= (p.Gln22905=)
c.94758G= (p.Gln31586=)
c.90156G= (p.Gln30052=)
c.90153G= (p.Gln30051=)
c.87195G= (p.Gln29065=)
c.68811G= (p.Gln22937=)
c.90306G= (p.Gln30102=)
c.90303G= (p.Gln30101=)
c.89736G= (p.Gln29912=)
c.87078G= (p.Gln29026=)
c.86997G= (p.Gln28999=)
c.68760G= (p.Gln22920=)
c.58614G= (p.Gln19538=)
2g.178544364C>GCA349456639TTN,TTN-AS1c.88161G>C (p.Gln29387His)
c.69246G>C (p.Gln23082His)
c.69045G>C (p.Gln23015His)
c.68670G>C (p.Gln22890His)
c.95865G>C (p.Gln31955His)
c.90942G>C (p.Gln30314His)
n.446+20728C>G
n.2043+2003C>G
c.94962G>C (p.Gln31654His)
c.68856G>C (p.Gln22952His)
c.68715G>C (p.Gln22905His)
c.94758G>C (p.Gln31586His)
c.90156G>C (p.Gln30052His)
c.90153G>C (p.Gln30051His)
c.87195G>C (p.Gln29065His)
c.68811G>C (p.Gln22937His)
c.90306G>C (p.Gln30102His)
c.90303G>C (p.Gln30101His)
c.89736G>C (p.Gln29912His)
c.87078G>C (p.Gln29026His)
c.86997G>C (p.Gln28999His)
c.68760G>C (p.Gln22920His)
c.58614G>C (p.Gln19538His)
2g.178544364C>TCA1986862TTN,TTN-AS1c.88161G>A (p.Gln29387=)
c.69246G>A (p.Gln23082=)
c.69045G>A (p.Gln23015=)
c.68670G>A (p.Gln22890=)
c.95865G>A (p.Gln31955=)
c.90942G>A (p.Gln30314=)
n.446+20728C>T
n.2043+2003C>T
c.94962G>A (p.Gln31654=)
c.68856G>A (p.Gln22952=)
c.68715G>A (p.Gln22905=)
c.94758G>A (p.Gln31586=)
c.90156G>A (p.Gln30052=)
c.90153G>A (p.Gln30051=)
c.87195G>A (p.Gln29065=)
c.68811G>A (p.Gln22937=)
c.90306G>A (p.Gln30102=)
c.90303G>A (p.Gln30101=)
c.89736G>A (p.Gln29912=)
c.87078G>A (p.Gln29026=)
c.86997G>A (p.Gln28999=)
c.68760G>A (p.Gln22920=)
c.58614G>A (p.Gln19538=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
2g.178544365T>ACA185359TTN,TTN-AS1c.88160A>T (p.Gln29387Leu)
c.69245A>T (p.Gln23082Leu)
c.69044A>T (p.Gln23015Leu)
c.68669A>T (p.Gln22890Leu)
c.95864A>T (p.Gln31955Leu)
c.90941A>T (p.Gln30314Leu)
n.446+20729T>A
n.2043+2004T>A
c.94961A>T (p.Gln31654Leu)
c.68855A>T (p.Gln22952Leu)
c.68714A>T (p.Gln22905Leu)
c.94757A>T (p.Gln31586Leu)
c.90155A>T (p.Gln30052Leu)
c.90152A>T (p.Gln30051Leu)
c.87194A>T (p.Gln29065Leu)
c.68810A>T (p.Gln22937Leu)
c.90305A>T (p.Gln30102Leu)
c.90302A>T (p.Gln30101Leu)
c.89735A>T (p.Gln29912Leu)
c.87077A>T (p.Gln29026Leu)
c.86996A>T (p.Gln28999Leu)
c.68759A>T (p.Gln22920Leu)
c.58613A>T (p.Gln19538Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178544365T>CCA349456650TTN,TTN-AS1c.88160A>G (p.Gln29387Arg)
c.69245A>G (p.Gln23082Arg)
c.69044A>G (p.Gln23015Arg)
c.68669A>G (p.Gln22890Arg)
c.95864A>G (p.Gln31955Arg)
c.90941A>G (p.Gln30314Arg)
n.446+20729T>C
n.2043+2004T>C
c.94961A>G (p.Gln31654Arg)
c.68855A>G (p.Gln22952Arg)
c.68714A>G (p.Gln22905Arg)
c.94757A>G (p.Gln31586Arg)
c.90155A>G (p.Gln30052Arg)
c.90152A>G (p.Gln30051Arg)
c.87194A>G (p.Gln29065Arg)
c.68810A>G (p.Gln22937Arg)
c.90305A>G (p.Gln30102Arg)
c.90302A>G (p.Gln30101Arg)
c.89735A>G (p.Gln29912Arg)
c.87077A>G (p.Gln29026Arg)
c.86996A>G (p.Gln28999Arg)
c.68759A>G (p.Gln22920Arg)
c.58613A>G (p.Gln19538Arg)
2g.178544365T>GCA349456645TTN,TTN-AS1c.88160A>C (p.Gln29387Pro)
c.69245A>C (p.Gln23082Pro)
c.69044A>C (p.Gln23015Pro)
c.68669A>C (p.Gln22890Pro)
c.95864A>C (p.Gln31955Pro)
c.90941A>C (p.Gln30314Pro)
n.446+20729T>G
n.2043+2004T>G
c.94961A>C (p.Gln31654Pro)
c.68855A>C (p.Gln22952Pro)
c.68714A>C (p.Gln22905Pro)
c.94757A>C (p.Gln31586Pro)
c.90155A>C (p.Gln30052Pro)
c.90152A>C (p.Gln30051Pro)
c.87194A>C (p.Gln29065Pro)
c.68810A>C (p.Gln22937Pro)
c.90305A>C (p.Gln30102Pro)
c.90302A>C (p.Gln30101Pro)
c.89735A>C (p.Gln29912Pro)
c.87077A>C (p.Gln29026Pro)
c.86996A>C (p.Gln28999Pro)
c.68759A>C (p.Gln22920Pro)
c.58613A>C (p.Gln19538Pro)
2g.178544365T=CA1310521548TTN,TTN-AS1c.88160A= (p.Gln29387=)
c.69245A= (p.Gln23082=)
c.69044A= (p.Gln23015=)
c.68669A= (p.Gln22890=)
c.95864A= (p.Gln31955=)
c.90941A= (p.Gln30314=)
n.446+20729T=
n.2043+2004T=
c.94961A= (p.Gln31654=)
c.68855A= (p.Gln22952=)
c.68714A= (p.Gln22905=)
c.94757A= (p.Gln31586=)
c.90155A= (p.Gln30052=)
c.90152A= (p.Gln30051=)
c.87194A= (p.Gln29065=)
c.68810A= (p.Gln22937=)
c.90305A= (p.Gln30102=)
c.90302A= (p.Gln30101=)
c.89735A= (p.Gln29912=)
c.87077A= (p.Gln29026=)
c.86996A= (p.Gln28999=)
c.68759A= (p.Gln22920=)
c.58613A= (p.Gln19538=)
2g.178544366G>ACA349456669TTN,TTN-AS1c.88159C>T (p.Gln29387Ter)
c.69244C>T (p.Gln23082Ter)
c.69043C>T (p.Gln23015Ter)
c.68668C>T (p.Gln22890Ter)
c.95863C>T (p.Gln31955Ter)
c.90940C>T (p.Gln30314Ter)
n.446+20730G>A
n.2043+2005G>A
c.94960C>T (p.Gln31654Ter)
c.68854C>T (p.Gln22952Ter)
c.68713C>T (p.Gln22905Ter)
c.94756C>T (p.Gln31586Ter)
c.90154C>T (p.Gln30052Ter)
c.90151C>T (p.Gln30051Ter)
c.87193C>T (p.Gln29065Ter)
c.68809C>T (p.Gln22937Ter)
c.90304C>T (p.Gln30102Ter)
c.90301C>T (p.Gln30101Ter)
c.89734C>T (p.Gln29912Ter)
c.87076C>T (p.Gln29026Ter)
c.86995C>T (p.Gln28999Ter)
c.68758C>T (p.Gln22920Ter)
c.58612C>T (p.Gln19538Ter)
2g.178544366G>CCA349456673TTN,TTN-AS1c.88159C>G (p.Gln29387Glu)
c.69244C>G (p.Gln23082Glu)
c.69043C>G (p.Gln23015Glu)
c.68668C>G (p.Gln22890Glu)
c.95863C>G (p.Gln31955Glu)
c.90940C>G (p.Gln30314Glu)
n.446+20730G>C
n.2043+2005G>C
c.94960C>G (p.Gln31654Glu)
c.68854C>G (p.Gln22952Glu)
c.68713C>G (p.Gln22905Glu)
c.94756C>G (p.Gln31586Glu)
c.90154C>G (p.Gln30052Glu)
c.90151C>G (p.Gln30051Glu)
c.87193C>G (p.Gln29065Glu)
c.68809C>G (p.Gln22937Glu)
c.90304C>G (p.Gln30102Glu)
c.90301C>G (p.Gln30101Glu)
c.89734C>G (p.Gln29912Glu)
c.87076C>G (p.Gln29026Glu)
c.86995C>G (p.Gln28999Glu)
c.68758C>G (p.Gln22920Glu)
c.58612C>G (p.Gln19538Glu)
2g.178544366G>TCA349456676TTN,TTN-AS1c.88159C>A (p.Gln29387Lys)
c.69244C>A (p.Gln23082Lys)
c.69043C>A (p.Gln23015Lys)
c.68668C>A (p.Gln22890Lys)
c.95863C>A (p.Gln31955Lys)
c.90940C>A (p.Gln30314Lys)
n.446+20730G>T
n.2043+2005G>T
c.94960C>A (p.Gln31654Lys)
c.68854C>A (p.Gln22952Lys)
c.68713C>A (p.Gln22905Lys)
c.94756C>A (p.Gln31586Lys)
c.90154C>A (p.Gln30052Lys)
c.90151C>A (p.Gln30051Lys)
c.87193C>A (p.Gln29065Lys)
c.68809C>A (p.Gln22937Lys)
c.90304C>A (p.Gln30102Lys)
c.90301C>A (p.Gln30101Lys)
c.89734C>A (p.Gln29912Lys)
c.87076C>A (p.Gln29026Lys)
c.86995C>A (p.Gln28999Lys)
c.68758C>A (p.Gln22920Lys)
c.58612C>A (p.Gln19538Lys)
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
2g.178544381C>TCA185362TTN,TTN-AS1c.88144G>A (p.Glu29382Lys)
c.69229G>A (p.Glu23077Lys)
c.69028G>A (p.Glu23010Lys)
c.68653G>A (p.Glu22885Lys)
c.95848G>A (p.Glu31950Lys)
c.90925G>A (p.Glu30309Lys)
n.446+20745C>T
n.2043+2020C>T
c.94945G>A (p.Glu31649Lys)
c.68839G>A (p.Glu22947Lys)
c.68698G>A (p.Glu22900Lys)
c.94741G>A (p.Glu31581Lys)
c.90139G>A (p.Glu30047Lys)
c.90136G>A (p.Glu30046Lys)
c.87178G>A (p.Glu29060Lys)
c.68794G>A (p.Glu22932Lys)
c.90289G>A (p.Glu30097Lys)
c.90286G>A (p.Glu30096Lys)
c.89719G>A (p.Glu29907Lys)
c.87061G>A (p.Glu29021Lys)
c.86980G>A (p.Glu28994Lys)
c.68743G>A (p.Glu22915Lys)
c.58597G>A (p.Glu19533Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178544382T>ACA349456871TTN,TTN-AS1c.88143A>T (p.Gln29381His)
c.69228A>T (p.Gln23076His)
c.69027A>T (p.Gln23009His)
c.68652A>T (p.Gln22884His)
c.95847A>T (p.Gln31949His)
c.90924A>T (p.Gln30308His)
n.446+20746T>A
n.2043+2021T>A
c.94944A>T (p.Gln31648His)
c.68838A>T (p.Gln22946His)
c.68697A>T (p.Gln22899His)
c.94740A>T (p.Gln31580His)
c.90138A>T (p.Gln30046His)
c.90135A>T (p.Gln30045His)
c.87177A>T (p.Gln29059His)
c.68793A>T (p.Gln22931His)
c.90288A>T (p.Gln30096His)
c.90285A>T (p.Gln30095His)
c.89718A>T (p.Gln29906His)
c.87060A>T (p.Gln29020His)
c.86979A>T (p.Gln28993His)
c.68742A>T (p.Gln22914His)
c.58596A>T (p.Gln19532His)
2g.178544382T>CCA430241865TTN,TTN-AS1c.88143A>G (p.Gln29381=)
c.69228A>G (p.Gln23076=)
c.69027A>G (p.Gln23009=)
c.68652A>G (p.Gln22884=)
c.95847A>G (p.Gln31949=)
c.90924A>G (p.Gln30308=)
n.446+20746T>C
n.2043+2021T>C
c.94944A>G (p.Gln31648=)
c.68838A>G (p.Gln22946=)
c.68697A>G (p.Gln22899=)
c.94740A>G (p.Gln31580=)
c.90138A>G (p.Gln30046=)
c.90135A>G (p.Gln30045=)
c.87177A>G (p.Gln29059=)
c.68793A>G (p.Gln22931=)
c.90288A>G (p.Gln30096=)
c.90285A>G (p.Gln30095=)
c.89718A>G (p.Gln29906=)
c.87060A>G (p.Gln29020=)
c.86979A>G (p.Gln28993=)
c.68742A>G (p.Gln22914=)
c.58596A>G (p.Gln19532=)
 ClinVar gnomAD v4
2g.178544382T>GCA349456879TTN,TTN-AS1c.88143A>C (p.Gln29381His)
c.69228A>C (p.Gln23076His)
c.69027A>C (p.Gln23009His)
c.68652A>C (p.Gln22884His)
c.95847A>C (p.Gln31949His)
c.90924A>C (p.Gln30308His)
n.446+20746T>G
n.2043+2021T>G
c.94944A>C (p.Gln31648His)
c.68838A>C (p.Gln22946His)
c.68697A>C (p.Gln22899His)
c.94740A>C (p.Gln31580His)
c.90138A>C (p.Gln30046His)
c.90135A>C (p.Gln30045His)
c.87177A>C (p.Gln29059His)
c.68793A>C (p.Gln22931His)
c.90288A>C (p.Gln30096His)
c.90285A>C (p.Gln30095His)
c.89718A>C (p.Gln29906His)
c.87060A>C (p.Gln29020His)
c.86979A>C (p.Gln28993His)
c.68742A>C (p.Gln22914His)
c.58596A>C (p.Gln19532His)
2g.178544383T>ACA349456890TTN,TTN-AS1c.88142A>T (p.Gln29381Leu)
c.69227A>T (p.Gln23076Leu)
c.69026A>T (p.Gln23009Leu)
c.68651A>T (p.Gln22884Leu)
c.95846A>T (p.Gln31949Leu)
c.90923A>T (p.Gln30308Leu)
n.446+20747T>A
n.2043+2022T>A
c.94943A>T (p.Gln31648Leu)
c.68837A>T (p.Gln22946Leu)
c.68696A>T (p.Gln22899Leu)
c.94739A>T (p.Gln31580Leu)
c.90137A>T (p.Gln30046Leu)
c.90134A>T (p.Gln30045Leu)
c.87176A>T (p.Gln29059Leu)
c.68792A>T (p.Gln22931Leu)
c.90287A>T (p.Gln30096Leu)
c.90284A>T (p.Gln30095Leu)
c.89717A>T (p.Gln29906Leu)
c.87059A>T (p.Gln29020Leu)
c.86978A>T (p.Gln28993Leu)
c.68741A>T (p.Gln22914Leu)
c.58595A>T (p.Gln19532Leu)
2g.178544383T>CCA349456893TTN,TTN-AS1c.88142A>G (p.Gln29381Arg)
c.69227A>G (p.Gln23076Arg)
c.69026A>G (p.Gln23009Arg)
c.68651A>G (p.Gln22884Arg)
c.95846A>G (p.Gln31949Arg)
c.90923A>G (p.Gln30308Arg)
n.446+20747T>C
n.2043+2022T>C
c.94943A>G (p.Gln31648Arg)
c.68837A>G (p.Gln22946Arg)
c.68696A>G (p.Gln22899Arg)
c.94739A>G (p.Gln31580Arg)
c.90137A>G (p.Gln30046Arg)
c.90134A>G (p.Gln30045Arg)
c.87176A>G (p.Gln29059Arg)
c.68792A>G (p.Gln22931Arg)
c.90287A>G (p.Gln30096Arg)
c.90284A>G (p.Gln30095Arg)
c.89717A>G (p.Gln29906Arg)
c.87059A>G (p.Gln29020Arg)
c.86978A>G (p.Gln28993Arg)
c.68741A>G (p.Gln22914Arg)
c.58595A>G (p.Gln19532Arg)
2g.178544383T>GCA349456911TTN,TTN-AS1c.88142A>C (p.Gln29381Pro)
c.69227A>C (p.Gln23076Pro)
c.69026A>C (p.Gln23009Pro)
c.68651A>C (p.Gln22884Pro)
c.95846A>C (p.Gln31949Pro)
c.90923A>C (p.Gln30308Pro)
n.446+20747T>G
n.2043+2022T>G
c.94943A>C (p.Gln31648Pro)
c.68837A>C (p.Gln22946Pro)
c.68696A>C (p.Gln22899Pro)
c.94739A>C (p.Gln31580Pro)
c.90137A>C (p.Gln30046Pro)
c.90134A>C (p.Gln30045Pro)
c.87176A>C (p.Gln29059Pro)
c.68792A>C (p.Gln22931Pro)
c.90287A>C (p.Gln30096Pro)
c.90284A>C (p.Gln30095Pro)
c.89717A>C (p.Gln29906Pro)
c.87059A>C (p.Gln29020Pro)
c.86978A>C (p.Gln28993Pro)
c.68741A>C (p.Gln22914Pro)
c.58595A>C (p.Gln19532Pro)
2g.178544384G>ACA349456914TTN,TTN-AS1c.88141C>T (p.Gln29381Ter)
c.69226C>T (p.Gln23076Ter)
c.69025C>T (p.Gln23009Ter)
c.68650C>T (p.Gln22884Ter)
c.95845C>T (p.Gln31949Ter)
c.90922C>T (p.Gln30308Ter)
n.446+20748G>A
n.2043+2023G>A
c.94942C>T (p.Gln31648Ter)
c.68836C>T (p.Gln22946Ter)
c.68695C>T (p.Gln22899Ter)
c.94738C>T (p.Gln31580Ter)
c.90136C>T (p.Gln30046Ter)
c.90133C>T (p.Gln30045Ter)
c.87175C>T (p.Gln29059Ter)
c.68791C>T (p.Gln22931Ter)
c.90286C>T (p.Gln30096Ter)
c.90283C>T (p.Gln30095Ter)
c.89716C>T (p.Gln29906Ter)
c.87058C>T (p.Gln29020Ter)
c.86977C>T (p.Gln28993Ter)
c.68740C>T (p.Gln22914Ter)
c.58594C>T (p.Gln19532Ter)
 ClinVar dbSNP
2g.178544384G>CCA349456912TTN,TTN-AS1c.88141C>G (p.Gln29381Glu)
c.69226C>G (p.Gln23076Glu)
c.69025C>G (p.Gln23009Glu)
c.68650C>G (p.Gln22884Glu)
c.95845C>G (p.Gln31949Glu)
c.90922C>G (p.Gln30308Glu)
n.446+20748G>C
n.2043+2023G>C
c.94942C>G (p.Gln31648Glu)
c.68836C>G (p.Gln22946Glu)
c.68695C>G (p.Gln22899Glu)
c.94738C>G (p.Gln31580Glu)
c.90136C>G (p.Gln30046Glu)
c.90133C>G (p.Gln30045Glu)
c.87175C>G (p.Gln29059Glu)
c.68791C>G (p.Gln22931Glu)
c.90286C>G (p.Gln30096Glu)
c.90283C>G (p.Gln30095Glu)
c.89716C>G (p.Gln29906Glu)
c.87058C>G (p.Gln29020Glu)
c.86977C>G (p.Gln28993Glu)
c.68740C>G (p.Gln22914Glu)
c.58594C>G (p.Gln19532Glu)
2g.178544384G>TCA349456913TTN,TTN-AS1c.88141C>A (p.Gln29381Lys)
c.69226C>A (p.Gln23076Lys)
c.69025C>A (p.Gln23009Lys)
c.68650C>A (p.Gln22884Lys)
c.95845C>A (p.Gln31949Lys)
c.90922C>A (p.Gln30308Lys)
n.446+20748G>T
n.2043+2023G>T
c.94942C>A (p.Gln31648Lys)
c.68836C>A (p.Gln22946Lys)
c.68695C>A (p.Gln22899Lys)
c.94738C>A (p.Gln31580Lys)
c.90136C>A (p.Gln30046Lys)
c.90133C>A (p.Gln30045Lys)
c.87175C>A (p.Gln29059Lys)
c.68791C>A (p.Gln22931Lys)
c.90286C>A (p.Gln30096Lys)
c.90283C>A (p.Gln30095Lys)
c.89716C>A (p.Gln29906Lys)
c.87058C>A (p.Gln29020Lys)
c.86977C>A (p.Gln28993Lys)
c.68740C>A (p.Gln22914Lys)
c.58594C>A (p.Gln19532Lys)
2g.178544385C>ACA349456918TTN,TTN-AS1c.88140G>T (p.Met29380Ile)
c.69225G>T (p.Met23075Ile)
c.69024G>T (p.Met23008Ile)
c.68649G>T (p.Met22883Ile)
c.95844G>T (p.Met31948Ile)
c.90921G>T (p.Met30307Ile)
n.446+20749C>A
n.2043+2024C>A
c.94941G>T (p.Met31647Ile)
c.68835G>T (p.Met22945Ile)
c.68694G>T (p.Met22898Ile)
c.94737G>T (p.Met31579Ile)
c.90135G>T (p.Met30045Ile)
c.90132G>T (p.Met30044Ile)
c.87174G>T (p.Met29058Ile)
c.68790G>T (p.Met22930Ile)
c.90285G>T (p.Met30095Ile)
c.90282G>T (p.Met30094Ile)
c.89715G>T (p.Met29905Ile)
c.87057G>T (p.Met29019Ile)
c.86976G>T (p.Met28992Ile)
c.68739G>T (p.Met22913Ile)
c.58593G>T (p.Met19531Ile)
2g.178544385C>GCA349456926TTN,TTN-AS1c.88140G>C (p.Met29380Ile)
c.69225G>C (p.Met23075Ile)
c.69024G>C (p.Met23008Ile)
c.68649G>C (p.Met22883Ile)
c.95844G>C (p.Met31948Ile)
c.90921G>C (p.Met30307Ile)
n.446+20749C>G
n.2043+2024C>G
c.94941G>C (p.Met31647Ile)
c.68835G>C (p.Met22945Ile)
c.68694G>C (p.Met22898Ile)
c.94737G>C (p.Met31579Ile)
c.90135G>C (p.Met30045Ile)
c.90132G>C (p.Met30044Ile)
c.87174G>C (p.Met29058Ile)
c.68790G>C (p.Met22930Ile)
c.90285G>C (p.Met30095Ile)
c.90282G>C (p.Met30094Ile)
c.89715G>C (p.Met29905Ile)
c.87057G>C (p.Met29019Ile)
c.86976G>C (p.Met28992Ile)
c.68739G>C (p.Met22913Ile)
c.58593G>C (p.Met19531Ile)
2g.178544385C>TCA349456928TTN,TTN-AS1c.88140G>A (p.Met29380Ile)
c.69225G>A (p.Met23075Ile)
c.69024G>A (p.Met23008Ile)
c.68649G>A (p.Met22883Ile)
c.95844G>A (p.Met31948Ile)
c.90921G>A (p.Met30307Ile)
n.446+20749C>T
n.2043+2024C>T
c.94941G>A (p.Met31647Ile)
c.68835G>A (p.Met22945Ile)
c.68694G>A (p.Met22898Ile)
c.94737G>A (p.Met31579Ile)
c.90135G>A (p.Met30045Ile)
c.90132G>A (p.Met30044Ile)
c.87174G>A (p.Met29058Ile)
c.68790G>A (p.Met22930Ile)
c.90285G>A (p.Met30095Ile)
c.90282G>A (p.Met30094Ile)
c.89715G>A (p.Met29905Ile)
c.87057G>A (p.Met29019Ile)
c.86976G>A (p.Met28992Ile)
c.68739G>A (p.Met22913Ile)
c.58593G>A (p.Met19531Ile)
2g.178544386A=CA1310521558TTN,TTN-AS1c.88139T= (p.Met29380=)
c.69224T= (p.Met23075=)
c.69023T= (p.Met23008=)
c.68648T= (p.Met22883=)
c.95843T= (p.Met31948=)
c.90920T= (p.Met30307=)
n.446+20750A=
n.2043+2025A=
c.94940T= (p.Met31647=)
c.68834T= (p.Met22945=)
c.68693T= (p.Met22898=)
c.94736T= (p.Met31579=)
c.90134T= (p.Met30045=)
c.90131T= (p.Met30044=)
c.87173T= (p.Met29058=)
c.68789T= (p.Met22930=)
c.90284T= (p.Met30095=)
c.90281T= (p.Met30094=)
c.89714T= (p.Met29905=)
c.87056T= (p.Met29019=)
c.86975T= (p.Met28992=)
c.68738T= (p.Met22913=)
c.58592T= (p.Met19531=)
2g.178544386A>CCA349456938TTN,TTN-AS1c.88139T>G (p.Met29380Arg)
c.69224T>G (p.Met23075Arg)
c.69023T>G (p.Met23008Arg)
c.68648T>G (p.Met22883Arg)
c.95843T>G (p.Met31948Arg)
c.90920T>G (p.Met30307Arg)
n.446+20750A>C
n.2043+2025A>C
c.94940T>G (p.Met31647Arg)
c.68834T>G (p.Met22945Arg)
c.68693T>G (p.Met22898Arg)
c.94736T>G (p.Met31579Arg)
c.90134T>G (p.Met30045Arg)
c.90131T>G (p.Met30044Arg)
c.87173T>G (p.Met29058Arg)
c.68789T>G (p.Met22930Arg)
c.90284T>G (p.Met30095Arg)
c.90281T>G (p.Met30094Arg)
c.89714T>G (p.Met29905Arg)
c.87056T>G (p.Met29019Arg)
c.86975T>G (p.Met28992Arg)
c.68738T>G (p.Met22913Arg)
c.58592T>G (p.Met19531Arg)
2g.178544386A>GCA1986865TTN,TTN-AS1c.88139T>C (p.Met29380Thr)
c.69224T>C (p.Met23075Thr)
c.69023T>C (p.Met23008Thr)
c.68648T>C (p.Met22883Thr)
c.95843T>C (p.Met31948Thr)
c.90920T>C (p.Met30307Thr)
n.446+20750A>G
n.2043+2025A>G
c.94940T>C (p.Met31647Thr)
c.68834T>C (p.Met22945Thr)
c.68693T>C (p.Met22898Thr)
c.94736T>C (p.Met31579Thr)
c.90134T>C (p.Met30045Thr)
c.90131T>C (p.Met30044Thr)
c.87173T>C (p.Met29058Thr)
c.68789T>C (p.Met22930Thr)
c.90284T>C (p.Met30095Thr)
c.90281T>C (p.Met30094Thr)
c.89714T>C (p.Met29905Thr)
c.87056T>C (p.Met29019Thr)
c.86975T>C (p.Met28992Thr)
c.68738T>C (p.Met22913Thr)
c.58592T>C (p.Met19531Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178544386A>TCA349456948TTN,TTN-AS1c.88139T>A (p.Met29380Lys)
c.69224T>A (p.Met23075Lys)
c.69023T>A (p.Met23008Lys)
c.68648T>A (p.Met22883Lys)
c.95843T>A (p.Met31948Lys)
c.90920T>A (p.Met30307Lys)
n.446+20750A>T
n.2043+2025A>T
c.94940T>A (p.Met31647Lys)
c.68834T>A (p.Met22945Lys)
c.68693T>A (p.Met22898Lys)
c.94736T>A (p.Met31579Lys)
c.90134T>A (p.Met30045Lys)
c.90131T>A (p.Met30044Lys)
c.87173T>A (p.Met29058Lys)
c.68789T>A (p.Met22930Lys)
c.90284T>A (p.Met30095Lys)
c.90281T>A (p.Met30094Lys)
c.89714T>A (p.Met29905Lys)
c.87056T>A (p.Met29019Lys)
c.86975T>A (p.Met28992Lys)
c.68738T>A (p.Met22913Lys)
c.58592T>A (p.Met19531Lys)
2g.178544387T>ACA349456951TTN,TTN-AS1c.88138A>T (p.Met29380Leu)
c.69223A>T (p.Met23075Leu)
c.69022A>T (p.Met23008Leu)
c.68647A>T (p.Met22883Leu)
c.95842A>T (p.Met31948Leu)
c.90919A>T (p.Met30307Leu)
n.446+20751T>A
n.2043+2026T>A
c.94939A>T (p.Met31647Leu)
c.68833A>T (p.Met22945Leu)
c.68692A>T (p.Met22898Leu)
c.94735A>T (p.Met31579Leu)
c.90133A>T (p.Met30045Leu)
c.90130A>T (p.Met30044Leu)
c.87172A>T (p.Met29058Leu)
c.68788A>T (p.Met22930Leu)
c.90283A>T (p.Met30095Leu)
c.90280A>T (p.Met30094Leu)
c.89713A>T (p.Met29905Leu)
c.87055A>T (p.Met29019Leu)
c.86974A>T (p.Met28992Leu)
c.68737A>T (p.Met22913Leu)
c.58591A>T (p.Met19531Leu)
2g.178544387T>CCA349456952TTN,TTN-AS1c.88138A>G (p.Met29380Val)
c.69223A>G (p.Met23075Val)
c.69022A>G (p.Met23008Val)
c.68647A>G (p.Met22883Val)
c.95842A>G (p.Met31948Val)
c.90919A>G (p.Met30307Val)
n.446+20751T>C
n.2043+2026T>C
c.94939A>G (p.Met31647Val)
c.68833A>G (p.Met22945Val)
c.68692A>G (p.Met22898Val)
c.94735A>G (p.Met31579Val)
c.90133A>G (p.Met30045Val)
c.90130A>G (p.Met30044Val)
c.87172A>G (p.Met29058Val)
c.68788A>G (p.Met22930Val)
c.90283A>G (p.Met30095Val)
c.90280A>G (p.Met30094Val)
c.89713A>G (p.Met29905Val)
c.87055A>G (p.Met29019Val)
c.86974A>G (p.Met28992Val)
c.68737A>G (p.Met22913Val)
c.58591A>G (p.Met19531Val)
2g.178544387T>GCA349456957TTN,TTN-AS1c.88138A>C (p.Met29380Leu)
c.69223A>C (p.Met23075Leu)
c.69022A>C (p.Met23008Leu)
c.68647A>C (p.Met22883Leu)
c.95842A>C (p.Met31948Leu)
c.90919A>C (p.Met30307Leu)
n.446+20751T>G
n.2043+2026T>G
c.94939A>C (p.Met31647Leu)
c.68833A>C (p.Met22945Leu)
c.68692A>C (p.Met22898Leu)
c.94735A>C (p.Met31579Leu)
c.90133A>C (p.Met30045Leu)
c.90130A>C (p.Met30044Leu)
c.87172A>C (p.Met29058Leu)
c.68788A>C (p.Met22930Leu)
c.90283A>C (p.Met30095Leu)
c.90280A>C (p.Met30094Leu)
c.89713A>C (p.Met29905Leu)
c.87055A>C (p.Met29019Leu)
c.86974A>C (p.Met28992Leu)
c.68737A>C (p.Met22913Leu)
c.58591A>C (p.Met19531Leu)
 gnomAD v4
2g.178544388T>ACA349456962TTN,TTN-AS1c.88137A>T (p.Glu29379Asp)
c.69222A>T (p.Glu23074Asp)
c.69021A>T (p.Glu23007Asp)
c.68646A>T (p.Glu22882Asp)
c.95841A>T (p.Glu31947Asp)
c.90918A>T (p.Glu30306Asp)
n.446+20752T>A
n.2043+2027T>A
c.94938A>T (p.Glu31646Asp)
c.68832A>T (p.Glu22944Asp)
c.68691A>T (p.Glu22897Asp)
c.94734A>T (p.Glu31578Asp)
c.90132A>T (p.Glu30044Asp)
c.90129A>T (p.Glu30043Asp)
c.87171A>T (p.Glu29057Asp)
c.68787A>T (p.Glu22929Asp)
c.90282A>T (p.Glu30094Asp)
c.90279A>T (p.Glu30093Asp)
c.89712A>T (p.Glu29904Asp)
c.87054A>T (p.Glu29018Asp)
c.86973A>T (p.Glu28991Asp)
c.68736A>T (p.Glu22912Asp)
c.58590A>T (p.Glu19530Asp)
2g.178544388T>CCA1986866TTN,TTN-AS1c.88137A>G (p.Glu29379=)
c.69222A>G (p.Glu23074=)
c.69021A>G (p.Glu23007=)
c.68646A>G (p.Glu22882=)
c.95841A>G (p.Glu31947=)
c.90918A>G (p.Glu30306=)
n.446+20752T>C
n.2043+2027T>C
c.94938A>G (p.Glu31646=)
c.68832A>G (p.Glu22944=)
c.68691A>G (p.Glu22897=)
c.94734A>G (p.Glu31578=)
c.90132A>G (p.Glu30044=)
c.90129A>G (p.Glu30043=)
c.87171A>G (p.Glu29057=)
c.68787A>G (p.Glu22929=)
c.90282A>G (p.Glu30094=)
c.90279A>G (p.Glu30093=)
c.89712A>G (p.Glu29904=)
c.87054A>G (p.Glu29018=)
c.86973A>G (p.Glu28991=)
c.68736A>G (p.Glu22912=)
c.58590A>G (p.Glu19530=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178544388T>GCA349456967TTN,TTN-AS1c.88137A>C (p.Glu29379Asp)
c.69222A>C (p.Glu23074Asp)
c.69021A>C (p.Glu23007Asp)
c.68646A>C (p.Glu22882Asp)
c.95841A>C (p.Glu31947Asp)
c.90918A>C (p.Glu30306Asp)
n.446+20752T>G
n.2043+2027T>G
c.94938A>C (p.Glu31646Asp)
c.68832A>C (p.Glu22944Asp)
c.68691A>C (p.Glu22897Asp)
c.94734A>C (p.Glu31578Asp)
c.90132A>C (p.Glu30044Asp)
c.90129A>C (p.Glu30043Asp)
c.87171A>C (p.Glu29057Asp)
c.68787A>C (p.Glu22929Asp)
c.90282A>C (p.Glu30094Asp)
c.90279A>C (p.Glu30093Asp)
c.89712A>C (p.Glu29904Asp)
c.87054A>C (p.Glu29018Asp)
c.86973A>C (p.Glu28991Asp)
c.68736A>C (p.Glu22912Asp)
c.58590A>C (p.Glu19530Asp)
2g.178544388T=CA1310521560TTN,TTN-AS1c.88137A= (p.Glu29379=)
c.69222A= (p.Glu23074=)
c.69021A= (p.Glu23007=)
c.68646A= (p.Glu22882=)
c.95841A= (p.Glu31947=)
c.90918A= (p.Glu30306=)
n.446+20752T=
n.2043+2027T=
c.94938A= (p.Glu31646=)
c.68832A= (p.Glu22944=)
c.68691A= (p.Glu22897=)
c.94734A= (p.Glu31578=)
c.90132A= (p.Glu30044=)
c.90129A= (p.Glu30043=)
c.87171A= (p.Glu29057=)
c.68787A= (p.Glu22929=)
c.90282A= (p.Glu30094=)
c.90279A= (p.Glu30093=)
c.89712A= (p.Glu29904=)
c.87054A= (p.Glu29018=)
c.86973A= (p.Glu28991=)
c.68736A= (p.Glu22912=)
c.58590A= (p.Glu19530=)
2g.178544389T>ACA349456971TTN,TTN-AS1c.88136A>T (p.Glu29379Val)
c.69221A>T (p.Glu23074Val)
c.69020A>T (p.Glu23007Val)
c.68645A>T (p.Glu22882Val)
c.95840A>T (p.Glu31947Val)
c.90917A>T (p.Glu30306Val)
n.446+20753T>A
n.2043+2028T>A
c.94937A>T (p.Glu31646Val)
c.68831A>T (p.Glu22944Val)
c.68690A>T (p.Glu22897Val)
c.94733A>T (p.Glu31578Val)
c.90131A>T (p.Glu30044Val)
c.90128A>T (p.Glu30043Val)
c.87170A>T (p.Glu29057Val)
c.68786A>T (p.Glu22929Val)
c.90281A>T (p.Glu30094Val)
c.90278A>T (p.Glu30093Val)
c.89711A>T (p.Glu29904Val)
c.87053A>T (p.Glu29018Val)
c.86972A>T (p.Glu28991Val)
c.68735A>T (p.Glu22912Val)
c.58589A>T (p.Glu19530Val)
2g.178544389T>CCA349456983TTN,TTN-AS1c.88136A>G (p.Glu29379Gly)
c.69221A>G (p.Glu23074Gly)
c.69020A>G (p.Glu23007Gly)
c.68645A>G (p.Glu22882Gly)
c.95840A>G (p.Glu31947Gly)
c.90917A>G (p.Glu30306Gly)
n.446+20753T>C
n.2043+2028T>C
c.94937A>G (p.Glu31646Gly)
c.68831A>G (p.Glu22944Gly)
c.68690A>G (p.Glu22897Gly)
c.94733A>G (p.Glu31578Gly)
c.90131A>G (p.Glu30044Gly)
c.90128A>G (p.Glu30043Gly)
c.87170A>G (p.Glu29057Gly)
c.68786A>G (p.Glu22929Gly)
c.90281A>G (p.Glu30094Gly)
c.90278A>G (p.Glu30093Gly)
c.89711A>G (p.Glu29904Gly)
c.87053A>G (p.Glu29018Gly)
c.86972A>G (p.Glu28991Gly)
c.68735A>G (p.Glu22912Gly)
c.58589A>G (p.Glu19530Gly)
 gnomAD v4
2g.178544389T>GCA349456975TTN,TTN-AS1c.88136A>C (p.Glu29379Ala)
c.69221A>C (p.Glu23074Ala)
c.69020A>C (p.Glu23007Ala)
c.68645A>C (p.Glu22882Ala)
c.95840A>C (p.Glu31947Ala)
c.90917A>C (p.Glu30306Ala)
n.446+20753T>G
n.2043+2028T>G
c.94937A>C (p.Glu31646Ala)
c.68831A>C (p.Glu22944Ala)
c.68690A>C (p.Glu22897Ala)
c.94733A>C (p.Glu31578Ala)
c.90131A>C (p.Glu30044Ala)
c.90128A>C (p.Glu30043Ala)
c.87170A>C (p.Glu29057Ala)
c.68786A>C (p.Glu22929Ala)
c.90281A>C (p.Glu30094Ala)
c.90278A>C (p.Glu30093Ala)
c.89711A>C (p.Glu29904Ala)
c.87053A>C (p.Glu29018Ala)
c.86972A>C (p.Glu28991Ala)
c.68735A>C (p.Glu22912Ala)
c.58589A>C (p.Glu19530Ala)
2g.178544390C>ACA349456989TTN,TTN-AS1c.88135G>T (p.Glu29379Ter)
c.69220G>T (p.Glu23074Ter)
c.69019G>T (p.Glu23007Ter)
c.68644G>T (p.Glu22882Ter)
c.95839G>T (p.Glu31947Ter)
c.90916G>T (p.Glu30306Ter)
n.446+20754C>A
n.2043+2029C>A
c.94936G>T (p.Glu31646Ter)
c.68830G>T (p.Glu22944Ter)
c.68689G>T (p.Glu22897Ter)
c.94732G>T (p.Glu31578Ter)
c.90130G>T (p.Glu30044Ter)
c.90127G>T (p.Glu30043Ter)
c.87169G>T (p.Glu29057Ter)
c.68785G>T (p.Glu22929Ter)
c.90280G>T (p.Glu30094Ter)
c.90277G>T (p.Glu30093Ter)
c.89710G>T (p.Glu29904Ter)
c.87052G>T (p.Glu29018Ter)
c.86971G>T (p.Glu28991Ter)
c.68734G>T (p.Glu22912Ter)
c.58588G>T (p.Glu19530Ter)
2g.178544390C>GCA349456999TTN,TTN-AS1c.88135G>C (p.Glu29379Gln)
c.69220G>C (p.Glu23074Gln)
c.69019G>C (p.Glu23007Gln)
c.68644G>C (p.Glu22882Gln)
c.95839G>C (p.Glu31947Gln)
c.90916G>C (p.Glu30306Gln)
n.446+20754C>G
n.2043+2029C>G
c.94936G>C (p.Glu31646Gln)
c.68830G>C (p.Glu22944Gln)
c.68689G>C (p.Glu22897Gln)
c.94732G>C (p.Glu31578Gln)
c.90130G>C (p.Glu30044Gln)
c.90127G>C (p.Glu30043Gln)
c.87169G>C (p.Glu29057Gln)
c.68785G>C (p.Glu22929Gln)
c.90280G>C (p.Glu30094Gln)
c.90277G>C (p.Glu30093Gln)
c.89710G>C (p.Glu29904Gln)
c.87052G>C (p.Glu29018Gln)
c.86971G>C (p.Glu28991Gln)
c.68734G>C (p.Glu22912Gln)
c.58588G>C (p.Glu19530Gln)
2g.178544390C>TCA349456996TTN,TTN-AS1c.88135G>A (p.Glu29379Lys)
c.69220G>A (p.Glu23074Lys)
c.69019G>A (p.Glu23007Lys)
c.68644G>A (p.Glu22882Lys)
c.95839G>A (p.Glu31947Lys)
c.90916G>A (p.Glu30306Lys)
n.446+20754C>T
n.2043+2029C>T
c.94936G>A (p.Glu31646Lys)
c.68830G>A (p.Glu22944Lys)
c.68689G>A (p.Glu22897Lys)
c.94732G>A (p.Glu31578Lys)
c.90130G>A (p.Glu30044Lys)
c.90127G>A (p.Glu30043Lys)
c.87169G>A (p.Glu29057Lys)
c.68785G>A (p.Glu22929Lys)
c.90280G>A (p.Glu30094Lys)
c.90277G>A (p.Glu30093Lys)
c.89710G>A (p.Glu29904Lys)
c.87052G>A (p.Glu29018Lys)
c.86971G>A (p.Glu28991Lys)
c.68734G>A (p.Glu22912Lys)
c.58588G>A (p.Glu19530Lys)
2g.178544391C>ACA430241879TTN,TTN-AS1c.88134G>T (p.Leu29378=)
c.69219G>T (p.Leu23073=)
c.69018G>T (p.Leu23006=)
c.68643G>T (p.Leu22881=)
c.95838G>T (p.Leu31946=)
c.90915G>T (p.Leu30305=)
n.446+20755C>A
n.2043+2030C>A
c.94935G>T (p.Leu31645=)
c.68829G>T (p.Leu22943=)
c.68688G>T (p.Leu22896=)
c.94731G>T (p.Leu31577=)
c.90129G>T (p.Leu30043=)
c.90126G>T (p.Leu30042=)
c.87168G>T (p.Leu29056=)
c.68784G>T (p.Leu22928=)
c.90279G>T (p.Leu30093=)
c.90276G>T (p.Leu30092=)
c.89709G>T (p.Leu29903=)
c.87051G>T (p.Leu29017=)
c.86970G>T (p.Leu28990=)
c.68733G>T (p.Leu22911=)
c.58587G>T (p.Leu19529=)
2g.178544391C=CA1310521563TTN,TTN-AS1c.88134G= (p.Leu29378=)
c.69219G= (p.Leu23073=)
c.69018G= (p.Leu23006=)
c.68643G= (p.Leu22881=)
c.95838G= (p.Leu31946=)
c.90915G= (p.Leu30305=)
n.446+20755C=
n.2043+2030C=
c.94935G= (p.Leu31645=)
c.68829G= (p.Leu22943=)
c.68688G= (p.Leu22896=)
c.94731G= (p.Leu31577=)
c.90129G= (p.Leu30043=)
c.90126G= (p.Leu30042=)
c.87168G= (p.Leu29056=)
c.68784G= (p.Leu22928=)
c.90279G= (p.Leu30093=)
c.90276G= (p.Leu30092=)
c.89709G= (p.Leu29903=)
c.87051G= (p.Leu29017=)
c.86970G= (p.Leu28990=)
c.68733G= (p.Leu22911=)
c.58587G= (p.Leu19529=)
2g.178544391C>GCA430241880TTN,TTN-AS1c.88134G>C (p.Leu29378=)
c.69219G>C (p.Leu23073=)
c.69018G>C (p.Leu23006=)
c.68643G>C (p.Leu22881=)
c.95838G>C (p.Leu31946=)
c.90915G>C (p.Leu30305=)
n.446+20755C>G
n.2043+2030C>G
c.94935G>C (p.Leu31645=)
c.68829G>C (p.Leu22943=)
c.68688G>C (p.Leu22896=)
c.94731G>C (p.Leu31577=)
c.90129G>C (p.Leu30043=)
c.90126G>C (p.Leu30042=)
c.87168G>C (p.Leu29056=)
c.68784G>C (p.Leu22928=)
c.90279G>C (p.Leu30093=)
c.90276G>C (p.Leu30092=)
c.89709G>C (p.Leu29903=)
c.87051G>C (p.Leu29017=)
c.86970G>C (p.Leu28990=)
c.68733G>C (p.Leu22911=)
c.58587G>C (p.Leu19529=)
2g.178544391C>TCA430241881TTN,TTN-AS1c.88134G>A (p.Leu29378=)
c.69219G>A (p.Leu23073=)
c.69018G>A (p.Leu23006=)
c.68643G>A (p.Leu22881=)
c.95838G>A (p.Leu31946=)
c.90915G>A (p.Leu30305=)
n.446+20755C>T
n.2043+2030C>T
c.94935G>A (p.Leu31645=)
c.68829G>A (p.Leu22943=)
c.68688G>A (p.Leu22896=)
c.94731G>A (p.Leu31577=)
c.90129G>A (p.Leu30043=)
c.90126G>A (p.Leu30042=)
c.87168G>A (p.Leu29056=)
c.68784G>A (p.Leu22928=)
c.90279G>A (p.Leu30093=)
c.90276G>A (p.Leu30092=)
c.89709G>A (p.Leu29903=)
c.87051G>A (p.Leu29017=)
c.86970G>A (p.Leu28990=)
c.68733G>A (p.Leu22911=)
c.58587G>A (p.Leu19529=)
 ClinVar dbSNP
2g.178544392A>CCA349457005TTN,TTN-AS1c.88133T>G (p.Leu29378Arg)
c.69218T>G (p.Leu23073Arg)
c.69017T>G (p.Leu23006Arg)
c.68642T>G (p.Leu22881Arg)
c.95837T>G (p.Leu31946Arg)
c.90914T>G (p.Leu30305Arg)
n.446+20756A>C
n.2043+2031A>C
c.94934T>G (p.Leu31645Arg)
c.68828T>G (p.Leu22943Arg)
c.68687T>G (p.Leu22896Arg)
c.94730T>G (p.Leu31577Arg)
c.90128T>G (p.Leu30043Arg)
c.90125T>G (p.Leu30042Arg)
c.87167T>G (p.Leu29056Arg)
c.68783T>G (p.Leu22928Arg)
c.90278T>G (p.Leu30093Arg)
c.90275T>G (p.Leu30092Arg)
c.89708T>G (p.Leu29903Arg)
c.87050T>G (p.Leu29017Arg)
c.86969T>G (p.Leu28990Arg)
c.68732T>G (p.Leu22911Arg)
c.58586T>G (p.Leu19529Arg)
2g.178544392A>GCA349457009TTN,TTN-AS1c.88133T>C (p.Leu29378Pro)
c.69218T>C (p.Leu23073Pro)
c.69017T>C (p.Leu23006Pro)
c.68642T>C (p.Leu22881Pro)
c.95837T>C (p.Leu31946Pro)
c.90914T>C (p.Leu30305Pro)
n.446+20756A>G
n.2043+2031A>G
c.94934T>C (p.Leu31645Pro)
c.68828T>C (p.Leu22943Pro)
c.68687T>C (p.Leu22896Pro)
c.94730T>C (p.Leu31577Pro)
c.90128T>C (p.Leu30043Pro)
c.90125T>C (p.Leu30042Pro)
c.87167T>C (p.Leu29056Pro)
c.68783T>C (p.Leu22928Pro)
c.90278T>C (p.Leu30093Pro)
c.90275T>C (p.Leu30092Pro)
c.89708T>C (p.Leu29903Pro)
c.87050T>C (p.Leu29017Pro)
c.86969T>C (p.Leu28990Pro)
c.68732T>C (p.Leu22911Pro)
c.58586T>C (p.Leu19529Pro)
2g.178544392A>TCA349457012TTN,TTN-AS1c.88133T>A (p.Leu29378Gln)
c.69218T>A (p.Leu23073Gln)
c.69017T>A (p.Leu23006Gln)
c.68642T>A (p.Leu22881Gln)
c.95837T>A (p.Leu31946Gln)
c.90914T>A (p.Leu30305Gln)
n.446+20756A>T
n.2043+2031A>T
c.94934T>A (p.Leu31645Gln)
c.68828T>A (p.Leu22943Gln)
c.68687T>A (p.Leu22896Gln)
c.94730T>A (p.Leu31577Gln)
c.90128T>A (p.Leu30043Gln)
c.90125T>A (p.Leu30042Gln)
c.87167T>A (p.Leu29056Gln)
c.68783T>A (p.Leu22928Gln)
c.90278T>A (p.Leu30093Gln)
c.90275T>A (p.Leu30092Gln)
c.89708T>A (p.Leu29903Gln)
c.87050T>A (p.Leu29017Gln)
c.86969T>A (p.Leu28990Gln)
c.68732T>A (p.Leu22911Gln)
c.58586T>A (p.Leu19529Gln)
2g.178544393G>ACA430241889TTN,TTN-AS1c.88132C>T (p.Leu29378=)
c.69217C>T (p.Leu23073=)
c.69016C>T (p.Leu23006=)
c.68641C>T (p.Leu22881=)
c.95836C>T (p.Leu31946=)
c.90913C>T (p.Leu30305=)
n.446+20757G>A
n.2043+2032G>A
c.94933C>T (p.Leu31645=)
c.68827C>T (p.Leu22943=)
c.68686C>T (p.Leu22896=)
c.94729C>T (p.Leu31577=)
c.90127C>T (p.Leu30043=)
c.90124C>T (p.Leu30042=)
c.87166C>T (p.Leu29056=)
c.68782C>T (p.Leu22928=)
c.90277C>T (p.Leu30093=)
c.90274C>T (p.Leu30092=)
c.89707C>T (p.Leu29903=)
c.87049C>T (p.Leu29017=)
c.86968C>T (p.Leu28990=)
c.68731C>T (p.Leu22911=)
c.58585C>T (p.Leu19529=)
2g.178544393G>CCA349457014TTN,TTN-AS1c.88132C>G (p.Leu29378Val)
c.69217C>G (p.Leu23073Val)
c.69016C>G (p.Leu23006Val)
c.68641C>G (p.Leu22881Val)
c.95836C>G (p.Leu31946Val)
c.90913C>G (p.Leu30305Val)
n.446+20757G>C
n.2043+2032G>C
c.94933C>G (p.Leu31645Val)
c.68827C>G (p.Leu22943Val)
c.68686C>G (p.Leu22896Val)
c.94729C>G (p.Leu31577Val)
c.90127C>G (p.Leu30043Val)
c.90124C>G (p.Leu30042Val)
c.87166C>G (p.Leu29056Val)
c.68782C>G (p.Leu22928Val)
c.90277C>G (p.Leu30093Val)
c.90274C>G (p.Leu30092Val)
c.89707C>G (p.Leu29903Val)
c.87049C>G (p.Leu29017Val)
c.86968C>G (p.Leu28990Val)
c.68731C>G (p.Leu22911Val)
c.58585C>G (p.Leu19529Val)
 dbSNP gnomAD v3 gnomAD v4
2g.178544393G=CA1310521565TTN,TTN-AS1c.88132C= (p.Leu29378=)
c.69217C= (p.Leu23073=)
c.69016C= (p.Leu23006=)
c.68641C= (p.Leu22881=)
c.95836C= (p.Leu31946=)
c.90913C= (p.Leu30305=)
n.446+20757G=
n.2043+2032G=
c.94933C= (p.Leu31645=)
c.68827C= (p.Leu22943=)
c.68686C= (p.Leu22896=)
c.94729C= (p.Leu31577=)
c.90127C= (p.Leu30043=)
c.90124C= (p.Leu30042=)
c.87166C= (p.Leu29056=)
c.68782C= (p.Leu22928=)
c.90277C= (p.Leu30093=)
c.90274C= (p.Leu30092=)
c.89707C= (p.Leu29903=)
c.87049C= (p.Leu29017=)
c.86968C= (p.Leu28990=)
c.68731C= (p.Leu22911=)
c.58585C= (p.Leu19529=)
2g.178544393G>TCA349457023TTN,TTN-AS1c.88132C>A (p.Leu29378Met)
c.69217C>A (p.Leu23073Met)
c.69016C>A (p.Leu23006Met)
c.68641C>A (p.Leu22881Met)
c.95836C>A (p.Leu31946Met)
c.90913C>A (p.Leu30305Met)
n.446+20757G>T
n.2043+2032G>T
c.94933C>A (p.Leu31645Met)
c.68827C>A (p.Leu22943Met)
c.68686C>A (p.Leu22896Met)
c.94729C>A (p.Leu31577Met)
c.90127C>A (p.Leu30043Met)
c.90124C>A (p.Leu30042Met)
c.87166C>A (p.Leu29056Met)
c.68782C>A (p.Leu22928Met)
c.90277C>A (p.Leu30093Met)
c.90274C>A (p.Leu30092Met)
c.89707C>A (p.Leu29903Met)
c.87049C>A (p.Leu29017Met)
c.86968C>A (p.Leu28990Met)
c.68731C>A (p.Leu22911Met)
c.58585C>A (p.Leu19529Met)
2g.178544394A=CA1310521566TTN,TTN-AS1c.88131T= (p.Val29377=)
c.69216T= (p.Val23072=)
c.69015T= (p.Val23005=)
c.68640T= (p.Val22880=)
c.95835T= (p.Val31945=)
c.90912T= (p.Val30304=)
n.446+20758A=
n.2043+2033A=
c.94932T= (p.Val31644=)
c.68826T= (p.Val22942=)
c.68685T= (p.Val22895=)
c.94728T= (p.Val31576=)
c.90126T= (p.Val30042=)
c.90123T= (p.Val30041=)
c.87165T= (p.Val29055=)
c.68781T= (p.Val22927=)
c.90276T= (p.Val30092=)
c.90273T= (p.Val30091=)
c.89706T= (p.Val29902=)
c.87048T= (p.Val29016=)
c.86967T= (p.Val28989=)
c.68730T= (p.Val22910=)
c.58584T= (p.Val19528=)
2g.178544394A>CCA430241890TTN,TTN-AS1c.88131T>G (p.Val29377=)
c.69216T>G (p.Val23072=)
c.69015T>G (p.Val23005=)
c.68640T>G (p.Val22880=)
c.95835T>G (p.Val31945=)
c.90912T>G (p.Val30304=)
n.446+20758A>C
n.2043+2033A>C
c.94932T>G (p.Val31644=)
c.68826T>G (p.Val22942=)
c.68685T>G (p.Val22895=)
c.94728T>G (p.Val31576=)
c.90126T>G (p.Val30042=)
c.90123T>G (p.Val30041=)
c.87165T>G (p.Val29055=)
c.68781T>G (p.Val22927=)
c.90276T>G (p.Val30092=)
c.90273T>G (p.Val30091=)
c.89706T>G (p.Val29902=)
c.87048T>G (p.Val29016=)
c.86967T>G (p.Val28989=)
c.68730T>G (p.Val22910=)
c.58584T>G (p.Val19528=)
2g.178544394A>GCA1986867TTN,TTN-AS1c.88131T>C (p.Val29377=)
c.69216T>C (p.Val23072=)
c.69015T>C (p.Val23005=)
c.68640T>C (p.Val22880=)
c.95835T>C (p.Val31945=)
c.90912T>C (p.Val30304=)
n.446+20758A>G
n.2043+2033A>G
c.94932T>C (p.Val31644=)
c.68826T>C (p.Val22942=)
c.68685T>C (p.Val22895=)
c.94728T>C (p.Val31576=)
c.90126T>C (p.Val30042=)
c.90123T>C (p.Val30041=)
c.87165T>C (p.Val29055=)
c.68781T>C (p.Val22927=)
c.90276T>C (p.Val30092=)
c.90273T>C (p.Val30091=)
c.89706T>C (p.Val29902=)
c.87048T>C (p.Val29016=)
c.86967T>C (p.Val28989=)
c.68730T>C (p.Val22910=)
c.58584T>C (p.Val19528=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178544394A>TCA430241897TTN,TTN-AS1c.88131T>A (p.Val29377=)
c.69216T>A (p.Val23072=)
c.69015T>A (p.Val23005=)
c.68640T>A (p.Val22880=)
c.95835T>A (p.Val31945=)
c.90912T>A (p.Val30304=)
n.446+20758A>T
n.2043+2033A>T
c.94932T>A (p.Val31644=)
c.68826T>A (p.Val22942=)
c.68685T>A (p.Val22895=)
c.94728T>A (p.Val31576=)
c.90126T>A (p.Val30042=)
c.90123T>A (p.Val30041=)
c.87165T>A (p.Val29055=)
c.68781T>A (p.Val22927=)
c.90276T>A (p.Val30092=)
c.90273T>A (p.Val30091=)
c.89706T>A (p.Val29902=)
c.87048T>A (p.Val29016=)
c.86967T>A (p.Val28989=)
c.68730T>A (p.Val22910=)
c.58584T>A (p.Val19528=)
2g.178544395A>CCA349457029TTN,TTN-AS1c.88130T>G (p.Val29377Gly)
c.69215T>G (p.Val23072Gly)
c.69014T>G (p.Val23005Gly)
c.68639T>G (p.Val22880Gly)
c.95834T>G (p.Val31945Gly)
c.90911T>G (p.Val30304Gly)
n.446+20759A>C
n.2043+2034A>C
c.94931T>G (p.Val31644Gly)
c.68825T>G (p.Val22942Gly)
c.68684T>G (p.Val22895Gly)
c.94727T>G (p.Val31576Gly)
c.90125T>G (p.Val30042Gly)
c.90122T>G (p.Val30041Gly)
c.87164T>G (p.Val29055Gly)
c.68780T>G (p.Val22927Gly)
c.90275T>G (p.Val30092Gly)
c.90272T>G (p.Val30091Gly)
c.89705T>G (p.Val29902Gly)
c.87047T>G (p.Val29016Gly)
c.86966T>G (p.Val28989Gly)
c.68729T>G (p.Val22910Gly)
c.58583T>G (p.Val19528Gly)
2g.178544395A>GCA349457033TTN,TTN-AS1c.88130T>C (p.Val29377Ala)
c.69215T>C (p.Val23072Ala)
c.69014T>C (p.Val23005Ala)
c.68639T>C (p.Val22880Ala)
c.95834T>C (p.Val31945Ala)
c.90911T>C (p.Val30304Ala)
n.446+20759A>G
n.2043+2034A>G
c.94931T>C (p.Val31644Ala)
c.68825T>C (p.Val22942Ala)
c.68684T>C (p.Val22895Ala)
c.94727T>C (p.Val31576Ala)
c.90125T>C (p.Val30042Ala)
c.90122T>C (p.Val30041Ala)
c.87164T>C (p.Val29055Ala)
c.68780T>C (p.Val22927Ala)
c.90275T>C (p.Val30092Ala)
c.90272T>C (p.Val30091Ala)
c.89705T>C (p.Val29902Ala)
c.87047T>C (p.Val29016Ala)
c.86966T>C (p.Val28989Ala)
c.68729T>C (p.Val22910Ala)
c.58583T>C (p.Val19528Ala)
2g.178544395A>TCA349457038TTN,TTN-AS1c.88130T>A (p.Val29377Asp)
c.69215T>A (p.Val23072Asp)
c.69014T>A (p.Val23005Asp)
c.68639T>A (p.Val22880Asp)
c.95834T>A (p.Val31945Asp)
c.90911T>A (p.Val30304Asp)
n.446+20759A>T
n.2043+2034A>T
c.94931T>A (p.Val31644Asp)
c.68825T>A (p.Val22942Asp)
c.68684T>A (p.Val22895Asp)
c.94727T>A (p.Val31576Asp)
c.90125T>A (p.Val30042Asp)
c.90122T>A (p.Val30041Asp)
c.87164T>A (p.Val29055Asp)
c.68780T>A (p.Val22927Asp)
c.90275T>A (p.Val30092Asp)
c.90272T>A (p.Val30091Asp)
c.89705T>A (p.Val29902Asp)
c.87047T>A (p.Val29016Asp)
c.86966T>A (p.Val28989Asp)
c.68729T>A (p.Val22910Asp)
c.58583T>A (p.Val19528Asp)
2g.178544396C>ACA349457041TTN,TTN-AS1c.88129G>T (p.Val29377Phe)
c.69214G>T (p.Val23072Phe)
c.69013G>T (p.Val23005Phe)
c.68638G>T (p.Val22880Phe)
c.95833G>T (p.Val31945Phe)
c.90910G>T (p.Val30304Phe)
n.446+20760C>A
n.2043+2035C>A
c.94930G>T (p.Val31644Phe)
c.68824G>T (p.Val22942Phe)
c.68683G>T (p.Val22895Phe)
c.94726G>T (p.Val31576Phe)
c.90124G>T (p.Val30042Phe)
c.90121G>T (p.Val30041Phe)
c.87163G>T (p.Val29055Phe)
c.68779G>T (p.Val22927Phe)
c.90274G>T (p.Val30092Phe)
c.90271G>T (p.Val30091Phe)
c.89704G>T (p.Val29902Phe)
c.87046G>T (p.Val29016Phe)
c.86965G>T (p.Val28989Phe)
c.68728G>T (p.Val22910Phe)
c.58582G>T (p.Val19528Phe)
2g.178544396C>GCA349457046TTN,TTN-AS1c.88129G>C (p.Val29377Leu)
c.69214G>C (p.Val23072Leu)
c.69013G>C (p.Val23005Leu)
c.68638G>C (p.Val22880Leu)
c.95833G>C (p.Val31945Leu)
c.90910G>C (p.Val30304Leu)
n.446+20760C>G
n.2043+2035C>G
c.94930G>C (p.Val31644Leu)
c.68824G>C (p.Val22942Leu)
c.68683G>C (p.Val22895Leu)
c.94726G>C (p.Val31576Leu)
c.90124G>C (p.Val30042Leu)
c.90121G>C (p.Val30041Leu)
c.87163G>C (p.Val29055Leu)
c.68779G>C (p.Val22927Leu)
c.90274G>C (p.Val30092Leu)
c.90271G>C (p.Val30091Leu)
c.89704G>C (p.Val29902Leu)
c.87046G>C (p.Val29016Leu)
c.86965G>C (p.Val28989Leu)
c.68728G>C (p.Val22910Leu)
c.58582G>C (p.Val19528Leu)
2g.178544396C>TCA349457049TTN,TTN-AS1c.88129G>A (p.Val29377Ile)
c.69214G>A (p.Val23072Ile)
c.69013G>A (p.Val23005Ile)
c.68638G>A (p.Val22880Ile)
c.95833G>A (p.Val31945Ile)
c.90910G>A (p.Val30304Ile)
n.446+20760C>T
n.2043+2035C>T
c.94930G>A (p.Val31644Ile)
c.68824G>A (p.Val22942Ile)
c.68683G>A (p.Val22895Ile)
c.94726G>A (p.Val31576Ile)
c.90124G>A (p.Val30042Ile)
c.90121G>A (p.Val30041Ile)
c.87163G>A (p.Val29055Ile)
c.68779G>A (p.Val22927Ile)
c.90274G>A (p.Val30092Ile)
c.90271G>A (p.Val30091Ile)
c.89704G>A (p.Val29902Ile)
c.87046G>A (p.Val29016Ile)
c.86965G>A (p.Val28989Ile)
c.68728G>A (p.Val22910Ile)
c.58582G>A (p.Val19528Ile)
 gnomAD v4
2g.178544397A=CA1310521568TTN,TTN-AS1c.88128T= (p.Tyr29376=)
c.69213T= (p.Tyr23071=)
c.69012T= (p.Tyr23004=)
c.68637T= (p.Tyr22879=)
c.95832T= (p.Tyr31944=)
c.90909T= (p.Tyr30303=)
n.446+20761A=
n.2043+2036A=
c.94929T= (p.Tyr31643=)
c.68823T= (p.Tyr22941=)
c.68682T= (p.Tyr22894=)
c.94725T= (p.Tyr31575=)
c.90123T= (p.Tyr30041=)
c.90120T= (p.Tyr30040=)
c.87162T= (p.Tyr29054=)
c.68778T= (p.Tyr22926=)
c.90273T= (p.Tyr30091=)
c.90270T= (p.Tyr30090=)
c.89703T= (p.Tyr29901=)
c.87045T= (p.Tyr29015=)
c.86964T= (p.Tyr28988=)
c.68727T= (p.Tyr22909=)
c.58581T= (p.Tyr19527=)
2g.178544397A>CCA349457055TTN,TTN-AS1c.88128T>G (p.Tyr29376Ter)
c.69213T>G (p.Tyr23071Ter)
c.69012T>G (p.Tyr23004Ter)
c.68637T>G (p.Tyr22879Ter)
c.95832T>G (p.Tyr31944Ter)
c.90909T>G (p.Tyr30303Ter)
n.446+20761A>C
n.2043+2036A>C
c.94929T>G (p.Tyr31643Ter)
c.68823T>G (p.Tyr22941Ter)
c.68682T>G (p.Tyr22894Ter)
c.94725T>G (p.Tyr31575Ter)
c.90123T>G (p.Tyr30041Ter)
c.90120T>G (p.Tyr30040Ter)
c.87162T>G (p.Tyr29054Ter)
c.68778T>G (p.Tyr22926Ter)
c.90273T>G (p.Tyr30091Ter)
c.90270T>G (p.Tyr30090Ter)
c.89703T>G (p.Tyr29901Ter)
c.87045T>G (p.Tyr29015Ter)
c.86964T>G (p.Tyr28988Ter)
c.68727T>G (p.Tyr22909Ter)
c.58581T>G (p.Tyr19527Ter)
2g.178544397A>GCA430241903TTN,TTN-AS1c.88128T>C (p.Tyr29376=)
c.69213T>C (p.Tyr23071=)
c.69012T>C (p.Tyr23004=)
c.68637T>C (p.Tyr22879=)
c.95832T>C (p.Tyr31944=)
c.90909T>C (p.Tyr30303=)
n.446+20761A>G
n.2043+2036A>G
c.94929T>C (p.Tyr31643=)
c.68823T>C (p.Tyr22941=)
c.68682T>C (p.Tyr22894=)
c.94725T>C (p.Tyr31575=)
c.90123T>C (p.Tyr30041=)
c.90120T>C (p.Tyr30040=)
c.87162T>C (p.Tyr29054=)
c.68778T>C (p.Tyr22926=)
c.90273T>C (p.Tyr30091=)
c.90270T>C (p.Tyr30090=)
c.89703T>C (p.Tyr29901=)
c.87045T>C (p.Tyr29015=)
c.86964T>C (p.Tyr28988=)
c.68727T>C (p.Tyr22909=)
c.58581T>C (p.Tyr19527=)
 dbSNP gnomAD v4
2g.178544397A>TCA349457057TTN,TTN-AS1c.88128T>A (p.Tyr29376Ter)
c.69213T>A (p.Tyr23071Ter)
c.69012T>A (p.Tyr23004Ter)
c.68637T>A (p.Tyr22879Ter)
c.95832T>A (p.Tyr31944Ter)
c.90909T>A (p.Tyr30303Ter)
n.446+20761A>T
n.2043+2036A>T
c.94929T>A (p.Tyr31643Ter)
c.68823T>A (p.Tyr22941Ter)
c.68682T>A (p.Tyr22894Ter)
c.94725T>A (p.Tyr31575Ter)
c.90123T>A (p.Tyr30041Ter)
c.90120T>A (p.Tyr30040Ter)
c.87162T>A (p.Tyr29054Ter)
c.68778T>A (p.Tyr22926Ter)
c.90273T>A (p.Tyr30091Ter)
c.90270T>A (p.Tyr30090Ter)
c.89703T>A (p.Tyr29901Ter)
c.87045T>A (p.Tyr29015Ter)
c.86964T>A (p.Tyr28988Ter)
c.68727T>A (p.Tyr22909Ter)
c.58581T>A (p.Tyr19527Ter)
2g.178544398T>ACA349457071TTN,TTN-AS1c.88127A>T (p.Tyr29376Phe)
c.69212A>T (p.Tyr23071Phe)
c.69011A>T (p.Tyr23004Phe)
c.68636A>T (p.Tyr22879Phe)
c.95831A>T (p.Tyr31944Phe)
c.90908A>T (p.Tyr30303Phe)
n.446+20762T>A
n.2043+2037T>A
c.94928A>T (p.Tyr31643Phe)
c.68822A>T (p.Tyr22941Phe)
c.68681A>T (p.Tyr22894Phe)
c.94724A>T (p.Tyr31575Phe)
c.90122A>T (p.Tyr30041Phe)
c.90119A>T (p.Tyr30040Phe)
c.87161A>T (p.Tyr29054Phe)
c.68777A>T (p.Tyr22926Phe)
c.90272A>T (p.Tyr30091Phe)
c.90269A>T (p.Tyr30090Phe)
c.89702A>T (p.Tyr29901Phe)
c.87044A>T (p.Tyr29015Phe)
c.86963A>T (p.Tyr28988Phe)
c.68726A>T (p.Tyr22909Phe)
c.58580A>T (p.Tyr19527Phe)
2g.178544398T>CCA349457075TTN,TTN-AS1c.88127A>G (p.Tyr29376Cys)
c.69212A>G (p.Tyr23071Cys)
c.69011A>G (p.Tyr23004Cys)
c.68636A>G (p.Tyr22879Cys)
c.95831A>G (p.Tyr31944Cys)
c.90908A>G (p.Tyr30303Cys)
n.446+20762T>C
n.2043+2037T>C
c.94928A>G (p.Tyr31643Cys)
c.68822A>G (p.Tyr22941Cys)
c.68681A>G (p.Tyr22894Cys)
c.94724A>G (p.Tyr31575Cys)
c.90122A>G (p.Tyr30041Cys)
c.90119A>G (p.Tyr30040Cys)
c.87161A>G (p.Tyr29054Cys)
c.68777A>G (p.Tyr22926Cys)
c.90272A>G (p.Tyr30091Cys)
c.90269A>G (p.Tyr30090Cys)
c.89702A>G (p.Tyr29901Cys)
c.87044A>G (p.Tyr29015Cys)
c.86963A>G (p.Tyr28988Cys)
c.68726A>G (p.Tyr22909Cys)
c.58580A>G (p.Tyr19527Cys)
2g.178544398T>GCA349457081TTN,TTN-AS1c.88127A>C (p.Tyr29376Ser)
c.69212A>C (p.Tyr23071Ser)
c.69011A>C (p.Tyr23004Ser)
c.68636A>C (p.Tyr22879Ser)
c.95831A>C (p.Tyr31944Ser)
c.90908A>C (p.Tyr30303Ser)
n.446+20762T>G
n.2043+2037T>G
c.94928A>C (p.Tyr31643Ser)
c.68822A>C (p.Tyr22941Ser)
c.68681A>C (p.Tyr22894Ser)
c.94724A>C (p.Tyr31575Ser)
c.90122A>C (p.Tyr30041Ser)
c.90119A>C (p.Tyr30040Ser)
c.87161A>C (p.Tyr29054Ser)
c.68777A>C (p.Tyr22926Ser)
c.90272A>C (p.Tyr30091Ser)
c.90269A>C (p.Tyr30090Ser)
c.89702A>C (p.Tyr29901Ser)
c.87044A>C (p.Tyr29015Ser)
c.86963A>C (p.Tyr28988Ser)
c.68726A>C (p.Tyr22909Ser)
c.58580A>C (p.Tyr19527Ser)
2g.178544399A>CCA349457084TTN,TTN-AS1c.88126T>G (p.Tyr29376Asp)
c.69211T>G (p.Tyr23071Asp)
c.69010T>G (p.Tyr23004Asp)
c.68635T>G (p.Tyr22879Asp)
c.95830T>G (p.Tyr31944Asp)
c.90907T>G (p.Tyr30303Asp)
n.446+20763A>C
n.2043+2038A>C
c.94927T>G (p.Tyr31643Asp)
c.68821T>G (p.Tyr22941Asp)
c.68680T>G (p.Tyr22894Asp)
c.94723T>G (p.Tyr31575Asp)
c.90121T>G (p.Tyr30041Asp)
c.90118T>G (p.Tyr30040Asp)
c.87160T>G (p.Tyr29054Asp)
c.68776T>G (p.Tyr22926Asp)
c.90271T>G (p.Tyr30091Asp)
c.90268T>G (p.Tyr30090Asp)
c.89701T>G (p.Tyr29901Asp)
c.87043T>G (p.Tyr29015Asp)
c.86962T>G (p.Tyr28988Asp)
c.68725T>G (p.Tyr22909Asp)
c.58579T>G (p.Tyr19527Asp)
2g.178544399A>GCA349457092TTN,TTN-AS1c.88126T>C (p.Tyr29376His)
c.69211T>C (p.Tyr23071His)
c.69010T>C (p.Tyr23004His)
c.68635T>C (p.Tyr22879His)
c.95830T>C (p.Tyr31944His)
c.90907T>C (p.Tyr30303His)
n.446+20763A>G
n.2043+2038A>G
c.94927T>C (p.Tyr31643His)
c.68821T>C (p.Tyr22941His)
c.68680T>C (p.Tyr22894His)
c.94723T>C (p.Tyr31575His)
c.90121T>C (p.Tyr30041His)
c.90118T>C (p.Tyr30040His)
c.87160T>C (p.Tyr29054His)
c.68776T>C (p.Tyr22926His)
c.90271T>C (p.Tyr30091His)
c.90268T>C (p.Tyr30090His)
c.89701T>C (p.Tyr29901His)
c.87043T>C (p.Tyr29015His)
c.86962T>C (p.Tyr28988His)
c.68725T>C (p.Tyr22909His)
c.58579T>C (p.Tyr19527His)
2g.178544399A>TCA349457097TTN,TTN-AS1c.88126T>A (p.Tyr29376Asn)
c.69211T>A (p.Tyr23071Asn)
c.69010T>A (p.Tyr23004Asn)
c.68635T>A (p.Tyr22879Asn)
c.95830T>A (p.Tyr31944Asn)
c.90907T>A (p.Tyr30303Asn)
n.446+20763A>T
n.2043+2038A>T
c.94927T>A (p.Tyr31643Asn)
c.68821T>A (p.Tyr22941Asn)
c.68680T>A (p.Tyr22894Asn)
c.94723T>A (p.Tyr31575Asn)
c.90121T>A (p.Tyr30041Asn)
c.90118T>A (p.Tyr30040Asn)
c.87160T>A (p.Tyr29054Asn)
c.68776T>A (p.Tyr22926Asn)
c.90271T>A (p.Tyr30091Asn)
c.90268T>A (p.Tyr30090Asn)
c.89701T>A (p.Tyr29901Asn)
c.87043T>A (p.Tyr29015Asn)
c.86962T>A (p.Tyr28988Asn)
c.68725T>A (p.Tyr22909Asn)
c.58579T>A (p.Tyr19527Asn)
2g.178544399_178544400insCCA2577170242TTN,TTN-AS1c.88125_88126insG (p.Tyr29376ValfsTer11)
c.69210_69211insG (p.Tyr23071ValfsTer11)
c.69009_69010insG (p.Tyr23004ValfsTer11)
c.68634_68635insG (p.Tyr22879ValfsTer11)
c.95829_95830insG (p.Tyr31944ValfsTer11)
c.90906_90907insG (p.Tyr30303ValfsTer11)
n.446+20763_446+20764insC
n.2043+2038_2043+2039insC
c.94926_94927insG (p.Tyr31643ValfsTer11)
c.68820_68821insG (p.Tyr22941ValfsTer11)
c.68679_68680insG (p.Tyr22894ValfsTer11)
c.94722_94723insG (p.Tyr31575ValfsTer11)
c.90120_90121insG (p.Tyr30041ValfsTer11)
c.90117_90118insG (p.Tyr30040ValfsTer11)
c.87159_87160insG (p.Tyr29054ValfsTer11)
c.68775_68776insG (p.Tyr22926ValfsTer11)
c.90270_90271insG (p.Tyr30091ValfsTer11)
c.90267_90268insG (p.Tyr30090ValfsTer11)
c.89700_89701insG (p.Tyr29901ValfsTer11)
c.87042_87043insG (p.Tyr29015ValfsTer11)
c.86961_86962insG (p.Tyr28988ValfsTer11)
c.68724_68725insG (p.Tyr22909ValfsTer11)
c.58578_58579insG (p.Tyr19527ValfsTer11)
 ClinVar
2g.178544400T>ACA430241914TTN,TTN-AS1c.88125A>T (p.Gly29375=)
c.69210A>T (p.Gly23070=)
c.69009A>T (p.Gly23003=)
c.68634A>T (p.Gly22878=)
c.95829A>T (p.Gly31943=)
c.90906A>T (p.Gly30302=)
n.446+20764T>A
n.2043+2039T>A
c.94926A>T (p.Gly31642=)
c.68820A>T (p.Gly22940=)
c.68679A>T (p.Gly22893=)
c.94722A>T (p.Gly31574=)
c.90120A>T (p.Gly30040=)
c.90117A>T (p.Gly30039=)
c.87159A>T (p.Gly29053=)
c.68775A>T (p.Gly22925=)
c.90270A>T (p.Gly30090=)
c.90267A>T (p.Gly30089=)
c.89700A>T (p.Gly29900=)
c.87042A>T (p.Gly29014=)
c.86961A>T (p.Gly28987=)
c.68724A>T (p.Gly22908=)
c.58578A>T (p.Gly19526=)
2g.178544400T>CCA1986868TTN,TTN-AS1c.88125A>G (p.Gly29375=)
c.69210A>G (p.Gly23070=)
c.69009A>G (p.Gly23003=)
c.68634A>G (p.Gly22878=)
c.95829A>G (p.Gly31943=)
c.90906A>G (p.Gly30302=)
n.446+20764T>C
n.2043+2039T>C
c.94926A>G (p.Gly31642=)
c.68820A>G (p.Gly22940=)
c.68679A>G (p.Gly22893=)
c.94722A>G (p.Gly31574=)
c.90120A>G (p.Gly30040=)
c.90117A>G (p.Gly30039=)
c.87159A>G (p.Gly29053=)
c.68775A>G (p.Gly22925=)
c.90270A>G (p.Gly30090=)
c.90267A>G (p.Gly30089=)
c.89700A>G (p.Gly29900=)
c.87042A>G (p.Gly29014=)
c.86961A>G (p.Gly28987=)
c.68724A>G (p.Gly22908=)
c.58578A>G (p.Gly19526=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178544400T>GCA430241915TTN,TTN-AS1c.88125A>C (p.Gly29375=)
c.69210A>C (p.Gly23070=)
c.69009A>C (p.Gly23003=)
c.68634A>C (p.Gly22878=)
c.95829A>C (p.Gly31943=)
c.90906A>C (p.Gly30302=)
n.446+20764T>G
n.2043+2039T>G
c.94926A>C (p.Gly31642=)
c.68820A>C (p.Gly22940=)
c.68679A>C (p.Gly22893=)
c.94722A>C (p.Gly31574=)
c.90120A>C (p.Gly30040=)
c.90117A>C (p.Gly30039=)
c.87159A>C (p.Gly29053=)
c.68775A>C (p.Gly22925=)
c.90270A>C (p.Gly30090=)
c.90267A>C (p.Gly30089=)
c.89700A>C (p.Gly29900=)
c.87042A>C (p.Gly29014=)
c.86961A>C (p.Gly28987=)
c.68724A>C (p.Gly22908=)
c.58578A>C (p.Gly19526=)
2g.178544400T=CA1310521570TTN,TTN-AS1c.88125A= (p.Gly29375=)
c.69210A= (p.Gly23070=)
c.69009A= (p.Gly23003=)
c.68634A= (p.Gly22878=)
c.95829A= (p.Gly31943=)
c.90906A= (p.Gly30302=)
n.446+20764T=
n.2043+2039T=
c.94926A= (p.Gly31642=)
c.68820A= (p.Gly22940=)
c.68679A= (p.Gly22893=)
c.94722A= (p.Gly31574=)
c.90120A= (p.Gly30040=)
c.90117A= (p.Gly30039=)
c.87159A= (p.Gly29053=)
c.68775A= (p.Gly22925=)
c.90270A= (p.Gly30090=)
c.90267A= (p.Gly30089=)
c.89700A= (p.Gly29900=)
c.87042A= (p.Gly29014=)
c.86961A= (p.Gly28987=)
c.68724A= (p.Gly22908=)
c.58578A= (p.Gly19526=)
2g.178544401C>ACA349457109TTN,TTN-AS1c.88124G>T (p.Gly29375Val)
c.69209G>T (p.Gly23070Val)
c.69008G>T (p.Gly23003Val)
c.68633G>T (p.Gly22878Val)
c.95828G>T (p.Gly31943Val)
c.90905G>T (p.Gly30302Val)
n.446+20765C>A
n.2043+2040C>A
c.94925G>T (p.Gly31642Val)
c.68819G>T (p.Gly22940Val)
c.68678G>T (p.Gly22893Val)
c.94721G>T (p.Gly31574Val)
c.90119G>T (p.Gly30040Val)
c.90116G>T (p.Gly30039Val)
c.87158G>T (p.Gly29053Val)
c.68774G>T (p.Gly22925Val)
c.90269G>T (p.Gly30090Val)
c.90266G>T (p.Gly30089Val)
c.89699G>T (p.Gly29900Val)
c.87041G>T (p.Gly29014Val)
c.86960G>T (p.Gly28987Val)
c.68723G>T (p.Gly22908Val)
c.58577G>T (p.Gly19526Val)
2g.178544401C>GCA349457111TTN,TTN-AS1c.88124G>C (p.Gly29375Ala)
c.69209G>C (p.Gly23070Ala)
c.69008G>C (p.Gly23003Ala)
c.68633G>C (p.Gly22878Ala)
c.95828G>C (p.Gly31943Ala)
c.90905G>C (p.Gly30302Ala)
n.446+20765C>G
n.2043+2040C>G
c.94925G>C (p.Gly31642Ala)
c.68819G>C (p.Gly22940Ala)
c.68678G>C (p.Gly22893Ala)
c.94721G>C (p.Gly31574Ala)
c.90119G>C (p.Gly30040Ala)
c.90116G>C (p.Gly30039Ala)
c.87158G>C (p.Gly29053Ala)
c.68774G>C (p.Gly22925Ala)
c.90269G>C (p.Gly30090Ala)
c.90266G>C (p.Gly30089Ala)
c.89699G>C (p.Gly29900Ala)
c.87041G>C (p.Gly29014Ala)
c.86960G>C (p.Gly28987Ala)
c.68723G>C (p.Gly22908Ala)
c.58577G>C (p.Gly19526Ala)
2g.178544401C>TCA349457113TTN,TTN-AS1c.88124G>A (p.Gly29375Glu)
c.69209G>A (p.Gly23070Glu)
c.69008G>A (p.Gly23003Glu)
c.68633G>A (p.Gly22878Glu)
c.95828G>A (p.Gly31943Glu)
c.90905G>A (p.Gly30302Glu)
n.446+20765C>T
n.2043+2040C>T
c.94925G>A (p.Gly31642Glu)
c.68819G>A (p.Gly22940Glu)
c.68678G>A (p.Gly22893Glu)
c.94721G>A (p.Gly31574Glu)
c.90119G>A (p.Gly30040Glu)
c.90116G>A (p.Gly30039Glu)
c.87158G>A (p.Gly29053Glu)
c.68774G>A (p.Gly22925Glu)
c.90269G>A (p.Gly30090Glu)
c.90266G>A (p.Gly30089Glu)
c.89699G>A (p.Gly29900Glu)
c.87041G>A (p.Gly29014Glu)
c.86960G>A (p.Gly28987Glu)
c.68723G>A (p.Gly22908Glu)
c.58577G>A (p.Gly19526Glu)
2g.178544402C>ACA349457116TTN,TTN-AS1c.88123G>T (p.Gly29375Ter)
c.69208G>T (p.Gly23070Ter)
c.69007G>T (p.Gly23003Ter)
c.68632G>T (p.Gly22878Ter)
c.95827G>T (p.Gly31943Ter)
c.90904G>T (p.Gly30302Ter)
n.446+20766C>A
n.2043+2041C>A
c.94924G>T (p.Gly31642Ter)
c.68818G>T (p.Gly22940Ter)
c.68677G>T (p.Gly22893Ter)
c.94720G>T (p.Gly31574Ter)
c.90118G>T (p.Gly30040Ter)
c.90115G>T (p.Gly30039Ter)
c.87157G>T (p.Gly29053Ter)
c.68773G>T (p.Gly22925Ter)
c.90268G>T (p.Gly30090Ter)
c.90265G>T (p.Gly30089Ter)
c.89698G>T (p.Gly29900Ter)
c.87040G>T (p.Gly29014Ter)
c.86959G>T (p.Gly28987Ter)
c.68722G>T (p.Gly22908Ter)
c.58576G>T (p.Gly19526Ter)
2g.178544402C>GCA349457121TTN,TTN-AS1c.88123G>C (p.Gly29375Arg)
c.69208G>C (p.Gly23070Arg)
c.69007G>C (p.Gly23003Arg)
c.68632G>C (p.Gly22878Arg)
c.95827G>C (p.Gly31943Arg)
c.90904G>C (p.Gly30302Arg)
n.446+20766C>G
n.2043+2041C>G
c.94924G>C (p.Gly31642Arg)
c.68818G>C (p.Gly22940Arg)
c.68677G>C (p.Gly22893Arg)
c.94720G>C (p.Gly31574Arg)
c.90118G>C (p.Gly30040Arg)
c.90115G>C (p.Gly30039Arg)
c.87157G>C (p.Gly29053Arg)
c.68773G>C (p.Gly22925Arg)
c.90268G>C (p.Gly30090Arg)
c.90265G>C (p.Gly30089Arg)
c.89698G>C (p.Gly29900Arg)
c.87040G>C (p.Gly29014Arg)
c.86959G>C (p.Gly28987Arg)
c.68722G>C (p.Gly22908Arg)
c.58576G>C (p.Gly19526Arg)
 gnomAD v4
2g.178544402C>TCA349457122TTN,TTN-AS1c.88123G>A (p.Gly29375Arg)
c.69208G>A (p.Gly23070Arg)
c.69007G>A (p.Gly23003Arg)
c.68632G>A (p.Gly22878Arg)
c.95827G>A (p.Gly31943Arg)
c.90904G>A (p.Gly30302Arg)
n.446+20766C>T
n.2043+2041C>T
c.94924G>A (p.Gly31642Arg)
c.68818G>A (p.Gly22940Arg)
c.68677G>A (p.Gly22893Arg)
c.94720G>A (p.Gly31574Arg)
c.90118G>A (p.Gly30040Arg)
c.90115G>A (p.Gly30039Arg)
c.87157G>A (p.Gly29053Arg)
c.68773G>A (p.Gly22925Arg)
c.90268G>A (p.Gly30090Arg)
c.90265G>A (p.Gly30089Arg)
c.89698G>A (p.Gly29900Arg)
c.87040G>A (p.Gly29014Arg)
c.86959G>A (p.Gly28987Arg)
c.68722G>A (p.Gly22908Arg)
c.58576G>A (p.Gly19526Arg)
2g.178544403T>ACA430241923TTN,TTN-AS1c.88122A>T (p.Val29374=)
c.69207A>T (p.Val23069=)
c.69006A>T (p.Val23002=)
c.68631A>T (p.Val22877=)
c.95826A>T (p.Val31942=)
c.90903A>T (p.Val30301=)
n.446+20767T>A
n.2043+2042T>A
c.94923A>T (p.Val31641=)
c.68817A>T (p.Val22939=)
c.68676A>T (p.Val22892=)
c.94719A>T (p.Val31573=)
c.90117A>T (p.Val30039=)
c.90114A>T (p.Val30038=)
c.87156A>T (p.Val29052=)
c.68772A>T (p.Val22924=)
c.90267A>T (p.Val30089=)
c.90264A>T (p.Val30088=)
c.89697A>T (p.Val29899=)
c.87039A>T (p.Val29013=)
c.86958A>T (p.Val28986=)
c.68721A>T (p.Val22907=)
c.58575A>T (p.Val19525=)
 COSMIC COSMIC COSMIC COSMIC
2g.178544403T>CCA430241926TTN,TTN-AS1c.88122A>G (p.Val29374=)
c.69207A>G (p.Val23069=)
c.69006A>G (p.Val23002=)
c.68631A>G (p.Val22877=)
c.95826A>G (p.Val31942=)
c.90903A>G (p.Val30301=)
n.446+20767T>C
n.2043+2042T>C
c.94923A>G (p.Val31641=)
c.68817A>G (p.Val22939=)
c.68676A>G (p.Val22892=)
c.94719A>G (p.Val31573=)
c.90117A>G (p.Val30039=)
c.90114A>G (p.Val30038=)
c.87156A>G (p.Val29052=)
c.68772A>G (p.Val22924=)
c.90267A>G (p.Val30089=)
c.90264A>G (p.Val30088=)
c.89697A>G (p.Val29899=)
c.87039A>G (p.Val29013=)
c.86958A>G (p.Val28986=)
c.68721A>G (p.Val22907=)
c.58575A>G (p.Val19525=)
2g.178544403T>GCA430241925TTN,TTN-AS1c.88122A>C (p.Val29374=)
c.69207A>C (p.Val23069=)
c.69006A>C (p.Val23002=)
c.68631A>C (p.Val22877=)
c.95826A>C (p.Val31942=)
c.90903A>C (p.Val30301=)
n.446+20767T>G
n.2043+2042T>G
c.94923A>C (p.Val31641=)
c.68817A>C (p.Val22939=)
c.68676A>C (p.Val22892=)
c.94719A>C (p.Val31573=)
c.90117A>C (p.Val30039=)
c.90114A>C (p.Val30038=)
c.87156A>C (p.Val29052=)
c.68772A>C (p.Val22924=)
c.90267A>C (p.Val30089=)
c.90264A>C (p.Val30088=)
c.89697A>C (p.Val29899=)
c.87039A>C (p.Val29013=)
c.86958A>C (p.Val28986=)
c.68721A>C (p.Val22907=)
c.58575A>C (p.Val19525=)
2g.178544404A>CCA349457123TTN,TTN-AS1c.88121T>G (p.Val29374Gly)
c.69206T>G (p.Val23069Gly)
c.69005T>G (p.Val23002Gly)
c.68630T>G (p.Val22877Gly)
c.95825T>G (p.Val31942Gly)
c.90902T>G (p.Val30301Gly)
n.446+20768A>C
n.2043+2043A>C
c.94922T>G (p.Val31641Gly)
c.68816T>G (p.Val22939Gly)
c.68675T>G (p.Val22892Gly)
c.94718T>G (p.Val31573Gly)
c.90116T>G (p.Val30039Gly)
c.90113T>G (p.Val30038Gly)
c.87155T>G (p.Val29052Gly)
c.68771T>G (p.Val22924Gly)
c.90266T>G (p.Val30089Gly)
c.90263T>G (p.Val30088Gly)
c.89696T>G (p.Val29899Gly)
c.87038T>G (p.Val29013Gly)
c.86957T>G (p.Val28986Gly)
c.68720T>G (p.Val22907Gly)
c.58574T>G (p.Val19525Gly)
2g.178544404A>GCA349457126TTN,TTN-AS1c.88121T>C (p.Val29374Ala)
c.69206T>C (p.Val23069Ala)
c.69005T>C (p.Val23002Ala)
c.68630T>C (p.Val22877Ala)
c.95825T>C (p.Val31942Ala)
c.90902T>C (p.Val30301Ala)
n.446+20768A>G
n.2043+2043A>G
c.94922T>C (p.Val31641Ala)
c.68816T>C (p.Val22939Ala)
c.68675T>C (p.Val22892Ala)
c.94718T>C (p.Val31573Ala)
c.90116T>C (p.Val30039Ala)
c.90113T>C (p.Val30038Ala)
c.87155T>C (p.Val29052Ala)
c.68771T>C (p.Val22924Ala)
c.90266T>C (p.Val30089Ala)
c.90263T>C (p.Val30088Ala)
c.89696T>C (p.Val29899Ala)
c.87038T>C (p.Val29013Ala)
c.86957T>C (p.Val28986Ala)
c.68720T>C (p.Val22907Ala)
c.58574T>C (p.Val19525Ala)
2g.178544404A>TCA349457124TTN,TTN-AS1c.88121T>A (p.Val29374Glu)
c.69206T>A (p.Val23069Glu)
c.69005T>A (p.Val23002Glu)
c.68630T>A (p.Val22877Glu)
c.95825T>A (p.Val31942Glu)
c.90902T>A (p.Val30301Glu)
n.446+20768A>T
n.2043+2043A>T
c.94922T>A (p.Val31641Glu)
c.68816T>A (p.Val22939Glu)
c.68675T>A (p.Val22892Glu)
c.94718T>A (p.Val31573Glu)
c.90116T>A (p.Val30039Glu)
c.90113T>A (p.Val30038Glu)
c.87155T>A (p.Val29052Glu)
c.68771T>A (p.Val22924Glu)
c.90266T>A (p.Val30089Glu)
c.90263T>A (p.Val30088Glu)
c.89696T>A (p.Val29899Glu)
c.87038T>A (p.Val29013Glu)
c.86957T>A (p.Val28986Glu)
c.68720T>A (p.Val22907Glu)
c.58574T>A (p.Val19525Glu)
2g.178544405C>ACA349457130TTN,TTN-AS1c.88120G>T (p.Val29374Leu)
c.69205G>T (p.Val23069Leu)
c.69004G>T (p.Val23002Leu)
c.68629G>T (p.Val22877Leu)
c.95824G>T (p.Val31942Leu)
c.90901G>T (p.Val30301Leu)
n.446+20769C>A
n.2043+2044C>A
c.94921G>T (p.Val31641Leu)
c.68815G>T (p.Val22939Leu)
c.68674G>T (p.Val22892Leu)
c.94717G>T (p.Val31573Leu)
c.90115G>T (p.Val30039Leu)
c.90112G>T (p.Val30038Leu)
c.87154G>T (p.Val29052Leu)
c.68770G>T (p.Val22924Leu)
c.90265G>T (p.Val30089Leu)
c.90262G>T (p.Val30088Leu)
c.89695G>T (p.Val29899Leu)
c.87037G>T (p.Val29013Leu)
c.86956G>T (p.Val28986Leu)
c.68719G>T (p.Val22907Leu)
c.58573G>T (p.Val19525Leu)
2g.178544405C=CA1310521572TTN,TTN-AS1c.88120G= (p.Val29374=)
c.69205G= (p.Val23069=)
c.69004G= (p.Val23002=)
c.68629G= (p.Val22877=)
c.95824G= (p.Val31942=)
c.90901G= (p.Val30301=)
n.446+20769C=
n.2043+2044C=
c.94921G= (p.Val31641=)
c.68815G= (p.Val22939=)
c.68674G= (p.Val22892=)
c.94717G= (p.Val31573=)
c.90115G= (p.Val30039=)
c.90112G= (p.Val30038=)
c.87154G= (p.Val29052=)
c.68770G= (p.Val22924=)
c.90265G= (p.Val30089=)
c.90262G= (p.Val30088=)
c.89695G= (p.Val29899=)
c.87037G= (p.Val29013=)
c.86956G= (p.Val28986=)
c.68719G= (p.Val22907=)
c.58573G= (p.Val19525=)
2g.178544405C>GCA349457131TTN,TTN-AS1c.88120G>C (p.Val29374Leu)
c.69205G>C (p.Val23069Leu)
c.69004G>C (p.Val23002Leu)
c.68629G>C (p.Val22877Leu)
c.95824G>C (p.Val31942Leu)
c.90901G>C (p.Val30301Leu)
n.446+20769C>G
n.2043+2044C>G
c.94921G>C (p.Val31641Leu)
c.68815G>C (p.Val22939Leu)
c.68674G>C (p.Val22892Leu)
c.94717G>C (p.Val31573Leu)
c.90115G>C (p.Val30039Leu)
c.90112G>C (p.Val30038Leu)
c.87154G>C (p.Val29052Leu)
c.68770G>C (p.Val22924Leu)
c.90265G>C (p.Val30089Leu)
c.90262G>C (p.Val30088Leu)
c.89695G>C (p.Val29899Leu)
c.87037G>C (p.Val29013Leu)
c.86956G>C (p.Val28986Leu)
c.68719G>C (p.Val22907Leu)
c.58573G>C (p.Val19525Leu)
2g.178544405C>TCA1986869TTN,TTN-AS1c.88120G>A (p.Val29374Ile)
c.69205G>A (p.Val23069Ile)
c.69004G>A (p.Val23002Ile)
c.68629G>A (p.Val22877Ile)
c.95824G>A (p.Val31942Ile)
c.90901G>A (p.Val30301Ile)
n.446+20769C>T
n.2043+2044C>T
c.94921G>A (p.Val31641Ile)
c.68815G>A (p.Val22939Ile)
c.68674G>A (p.Val22892Ile)
c.94717G>A (p.Val31573Ile)
c.90115G>A (p.Val30039Ile)
c.90112G>A (p.Val30038Ile)
c.87154G>A (p.Val29052Ile)
c.68770G>A (p.Val22924Ile)
c.90265G>A (p.Val30089Ile)
c.90262G>A (p.Val30088Ile)
c.89695G>A (p.Val29899Ile)
c.87037G>A (p.Val29013Ile)
c.86956G>A (p.Val28986Ile)
c.68719G>A (p.Val22907Ile)
c.58573G>A (p.Val19525Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178544406A>CCA349457133TTN,TTN-AS1c.88119T>G (p.Ile29373Met)
c.69204T>G (p.Ile23068Met)
c.69003T>G (p.Ile23001Met)
c.68628T>G (p.Ile22876Met)
c.95823T>G (p.Ile31941Met)
c.90900T>G (p.Ile30300Met)
n.446+20770A>C
n.2043+2045A>C
c.94920T>G (p.Ile31640Met)
c.68814T>G (p.Ile22938Met)
c.68673T>G (p.Ile22891Met)
c.94716T>G (p.Ile31572Met)
c.90114T>G (p.Ile30038Met)
c.90111T>G (p.Ile30037Met)
c.87153T>G (p.Ile29051Met)
c.68769T>G (p.Ile22923Met)
c.90264T>G (p.Ile30088Met)
c.90261T>G (p.Ile30087Met)
c.89694T>G (p.Ile29898Met)
c.87036T>G (p.Ile29012Met)
c.86955T>G (p.Ile28985Met)
c.68718T>G (p.Ile22906Met)
c.58572T>G (p.Ile19524Met)
2g.178544406A>GCA430241930TTN,TTN-AS1c.88119T>C (p.Ile29373=)
c.69204T>C (p.Ile23068=)
c.69003T>C (p.Ile23001=)
c.68628T>C (p.Ile22876=)
c.95823T>C (p.Ile31941=)
c.90900T>C (p.Ile30300=)
n.446+20770A>G
n.2043+2045A>G
c.94920T>C (p.Ile31640=)
c.68814T>C (p.Ile22938=)
c.68673T>C (p.Ile22891=)
c.94716T>C (p.Ile31572=)
c.90114T>C (p.Ile30038=)
c.90111T>C (p.Ile30037=)
c.87153T>C (p.Ile29051=)
c.68769T>C (p.Ile22923=)
c.90264T>C (p.Ile30088=)
c.90261T>C (p.Ile30087=)
c.89694T>C (p.Ile29898=)
c.87036T>C (p.Ile29012=)
c.86955T>C (p.Ile28985=)
c.68718T>C (p.Ile22906=)
c.58572T>C (p.Ile19524=)
 ClinVar
2g.178544406A>TCA430241931TTN,TTN-AS1c.88119T>A (p.Ile29373=)
c.69204T>A (p.Ile23068=)
c.69003T>A (p.Ile23001=)
c.68628T>A (p.Ile22876=)
c.95823T>A (p.Ile31941=)
c.90900T>A (p.Ile30300=)
n.446+20770A>T
n.2043+2045A>T
c.94920T>A (p.Ile31640=)
c.68814T>A (p.Ile22938=)
c.68673T>A (p.Ile22891=)
c.94716T>A (p.Ile31572=)
c.90114T>A (p.Ile30038=)
c.90111T>A (p.Ile30037=)
c.87153T>A (p.Ile29051=)
c.68769T>A (p.Ile22923=)
c.90264T>A (p.Ile30088=)
c.90261T>A (p.Ile30087=)
c.89694T>A (p.Ile29898=)
c.87036T>A (p.Ile29012=)
c.86955T>A (p.Ile28985=)
c.68718T>A (p.Ile22906=)
c.58572T>A (p.Ile19524=)
2g.178544407A=CA1310521573TTN,TTN-AS1c.88118T= (p.Ile29373=)
c.69203T= (p.Ile23068=)
c.69002T= (p.Ile23001=)
c.68627T= (p.Ile22876=)
c.95822T= (p.Ile31941=)
c.90899T= (p.Ile30300=)
n.446+20771A=
n.2043+2046A=
c.94919T= (p.Ile31640=)
c.68813T= (p.Ile22938=)
c.68672T= (p.Ile22891=)
c.94715T= (p.Ile31572=)
c.90113T= (p.Ile30038=)
c.90110T= (p.Ile30037=)
c.87152T= (p.Ile29051=)
c.68768T= (p.Ile22923=)
c.90263T= (p.Ile30088=)
c.90260T= (p.Ile30087=)
c.89693T= (p.Ile29898=)
c.87035T= (p.Ile29012=)
c.86954T= (p.Ile28985=)
c.68717T= (p.Ile22906=)
c.58571T= (p.Ile19524=)
2g.178544407A>CCA1986870TTN,TTN-AS1c.88118T>G (p.Ile29373Ser)
c.69203T>G (p.Ile23068Ser)
c.69002T>G (p.Ile23001Ser)
c.68627T>G (p.Ile22876Ser)
c.95822T>G (p.Ile31941Ser)
c.90899T>G (p.Ile30300Ser)
n.446+20771A>C
n.2043+2046A>C
c.94919T>G (p.Ile31640Ser)
c.68813T>G (p.Ile22938Ser)
c.68672T>G (p.Ile22891Ser)
c.94715T>G (p.Ile31572Ser)
c.90113T>G (p.Ile30038Ser)
c.90110T>G (p.Ile30037Ser)
c.87152T>G (p.Ile29051Ser)
c.68768T>G (p.Ile22923Ser)
c.90263T>G (p.Ile30088Ser)
c.90260T>G (p.Ile30087Ser)
c.89693T>G (p.Ile29898Ser)
c.87035T>G (p.Ile29012Ser)
c.86954T>G (p.Ile28985Ser)
c.68717T>G (p.Ile22906Ser)
c.58571T>G (p.Ile19524Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178544407A>GCA349457143TTN,TTN-AS1c.88118T>C (p.Ile29373Thr)
c.69203T>C (p.Ile23068Thr)
c.69002T>C (p.Ile23001Thr)
c.68627T>C (p.Ile22876Thr)
c.95822T>C (p.Ile31941Thr)
c.90899T>C (p.Ile30300Thr)
n.446+20771A>G
n.2043+2046A>G
c.94919T>C (p.Ile31640Thr)
c.68813T>C (p.Ile22938Thr)
c.68672T>C (p.Ile22891Thr)
c.94715T>C (p.Ile31572Thr)
c.90113T>C (p.Ile30038Thr)
c.90110T>C (p.Ile30037Thr)
c.87152T>C (p.Ile29051Thr)
c.68768T>C (p.Ile22923Thr)
c.90263T>C (p.Ile30088Thr)
c.90260T>C (p.Ile30087Thr)
c.89693T>C (p.Ile29898Thr)
c.87035T>C (p.Ile29012Thr)
c.86954T>C (p.Ile28985Thr)
c.68717T>C (p.Ile22906Thr)
c.58571T>C (p.Ile19524Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178544407A>TCA349457144TTN,TTN-AS1c.88118T>A (p.Ile29373Asn)
c.69203T>A (p.Ile23068Asn)
c.69002T>A (p.Ile23001Asn)
c.68627T>A (p.Ile22876Asn)
c.95822T>A (p.Ile31941Asn)
c.90899T>A (p.Ile30300Asn)
n.446+20771A>T
n.2043+2046A>T
c.94919T>A (p.Ile31640Asn)
c.68813T>A (p.Ile22938Asn)
c.68672T>A (p.Ile22891Asn)
c.94715T>A (p.Ile31572Asn)
c.90113T>A (p.Ile30038Asn)
c.90110T>A (p.Ile30037Asn)
c.87152T>A (p.Ile29051Asn)
c.68768T>A (p.Ile22923Asn)
c.90263T>A (p.Ile30088Asn)
c.90260T>A (p.Ile30087Asn)
c.89693T>A (p.Ile29898Asn)
c.87035T>A (p.Ile29012Asn)
c.86954T>A (p.Ile28985Asn)
c.68717T>A (p.Ile22906Asn)
c.58571T>A (p.Ile19524Asn)
2g.178544408T>ACA349457145TTN,TTN-AS1c.88117A>T (p.Ile29373Phe)
c.69202A>T (p.Ile23068Phe)
c.69001A>T (p.Ile23001Phe)
c.68626A>T (p.Ile22876Phe)
c.95821A>T (p.Ile31941Phe)
c.90898A>T (p.Ile30300Phe)
n.446+20772T>A
n.2043+2047T>A
c.94918A>T (p.Ile31640Phe)
c.68812A>T (p.Ile22938Phe)
c.68671A>T (p.Ile22891Phe)
c.94714A>T (p.Ile31572Phe)
c.90112A>T (p.Ile30038Phe)
c.90109A>T (p.Ile30037Phe)
c.87151A>T (p.Ile29051Phe)
c.68767A>T (p.Ile22923Phe)
c.90262A>T (p.Ile30088Phe)
c.90259A>T (p.Ile30087Phe)
c.89692A>T (p.Ile29898Phe)
c.87034A>T (p.Ile29012Phe)
c.86953A>T (p.Ile28985Phe)
c.68716A>T (p.Ile22906Phe)
c.58570A>T (p.Ile19524Phe)
2g.178544408T>CCA1986871TTN,TTN-AS1c.88117A>G (p.Ile29373Val)
c.69202A>G (p.Ile23068Val)
c.69001A>G (p.Ile23001Val)
c.68626A>G (p.Ile22876Val)
c.95821A>G (p.Ile31941Val)
c.90898A>G (p.Ile30300Val)
n.446+20772T>C
n.2043+2047T>C
c.94918A>G (p.Ile31640Val)
c.68812A>G (p.Ile22938Val)
c.68671A>G (p.Ile22891Val)
c.94714A>G (p.Ile31572Val)
c.90112A>G (p.Ile30038Val)
c.90109A>G (p.Ile30037Val)
c.87151A>G (p.Ile29051Val)
c.68767A>G (p.Ile22923Val)
c.90262A>G (p.Ile30088Val)
c.90259A>G (p.Ile30087Val)
c.89692A>G (p.Ile29898Val)
c.87034A>G (p.Ile29012Val)
c.86953A>G (p.Ile28985Val)
c.68716A>G (p.Ile22906Val)
c.58570A>G (p.Ile19524Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178544408T>GCA349457150TTN,TTN-AS1c.88117A>C (p.Ile29373Leu)
c.69202A>C (p.Ile23068Leu)
c.69001A>C (p.Ile23001Leu)
c.68626A>C (p.Ile22876Leu)
c.95821A>C (p.Ile31941Leu)
c.90898A>C (p.Ile30300Leu)
n.446+20772T>G
n.2043+2047T>G
c.94918A>C (p.Ile31640Leu)
c.68812A>C (p.Ile22938Leu)
c.68671A>C (p.Ile22891Leu)
c.94714A>C (p.Ile31572Leu)
c.90112A>C (p.Ile30038Leu)
c.90109A>C (p.Ile30037Leu)
c.87151A>C (p.Ile29051Leu)
c.68767A>C (p.Ile22923Leu)
c.90262A>C (p.Ile30088Leu)
c.90259A>C (p.Ile30087Leu)
c.89692A>C (p.Ile29898Leu)
c.87034A>C (p.Ile29012Leu)
c.86953A>C (p.Ile28985Leu)
c.68716A>C (p.Ile22906Leu)
c.58570A>C (p.Ile19524Leu)
2g.178544408T=CA1310521575TTN,TTN-AS1c.88117A= (p.Ile29373=)
c.69202A= (p.Ile23068=)
c.69001A= (p.Ile23001=)
c.68626A= (p.Ile22876=)
c.95821A= (p.Ile31941=)
c.90898A= (p.Ile30300=)
n.446+20772T=
n.2043+2047T=
c.94918A= (p.Ile31640=)
c.68812A= (p.Ile22938=)
c.68671A= (p.Ile22891=)
c.94714A= (p.Ile31572=)
c.90112A= (p.Ile30038=)
c.90109A= (p.Ile30037=)
c.87151A= (p.Ile29051=)
c.68767A= (p.Ile22923=)
c.90262A= (p.Ile30088=)
c.90259A= (p.Ile30087=)
c.89692A= (p.Ile29898=)
c.87034A= (p.Ile29012=)
c.86953A= (p.Ile28985=)
c.68716A= (p.Ile22906=)
c.58570A= (p.Ile19524=)
2g.178544409G>ACA430241940TTN,TTN-AS1c.88116C>T (p.Asp29372=)
c.69201C>T (p.Asp23067=)
c.69000C>T (p.Asp23000=)
c.68625C>T (p.Asp22875=)
c.95820C>T (p.Asp31940=)
c.90897C>T (p.Asp30299=)
n.446+20773G>A
n.2043+2048G>A
c.94917C>T (p.Asp31639=)
c.68811C>T (p.Asp22937=)
c.68670C>T (p.Asp22890=)
c.94713C>T (p.Asp31571=)
c.90111C>T (p.Asp30037=)
c.90108C>T (p.Asp30036=)
c.87150C>T (p.Asp29050=)
c.68766C>T (p.Asp22922=)
c.90261C>T (p.Asp30087=)
c.90258C>T (p.Asp30086=)
c.89691C>T (p.Asp29897=)
c.87033C>T (p.Asp29011=)
c.86952C>T (p.Asp28984=)
c.68715C>T (p.Asp22905=)
c.58569C>T (p.Asp19523=)
2g.178544409G>CCA349457153TTN,TTN-AS1c.88116C>G (p.Asp29372Glu)
c.69201C>G (p.Asp23067Glu)
c.69000C>G (p.Asp23000Glu)
c.68625C>G (p.Asp22875Glu)
c.95820C>G (p.Asp31940Glu)
c.90897C>G (p.Asp30299Glu)
n.446+20773G>C
n.2043+2048G>C
c.94917C>G (p.Asp31639Glu)
c.68811C>G (p.Asp22937Glu)
c.68670C>G (p.Asp22890Glu)
c.94713C>G (p.Asp31571Glu)
c.90111C>G (p.Asp30037Glu)
c.90108C>G (p.Asp30036Glu)
c.87150C>G (p.Asp29050Glu)
c.68766C>G (p.Asp22922Glu)
c.90261C>G (p.Asp30087Glu)
c.90258C>G (p.Asp30086Glu)
c.89691C>G (p.Asp29897Glu)
c.87033C>G (p.Asp29011Glu)
c.86952C>G (p.Asp28984Glu)
c.68715C>G (p.Asp22905Glu)
c.58569C>G (p.Asp19523Glu)
2g.178544409G>TCA349457167TTN,TTN-AS1c.88116C>A (p.Asp29372Glu)
c.69201C>A (p.Asp23067Glu)
c.69000C>A (p.Asp23000Glu)
c.68625C>A (p.Asp22875Glu)
c.95820C>A (p.Asp31940Glu)
c.90897C>A (p.Asp30299Glu)
n.446+20773G>T
n.2043+2048G>T
c.94917C>A (p.Asp31639Glu)
c.68811C>A (p.Asp22937Glu)
c.68670C>A (p.Asp22890Glu)
c.94713C>A (p.Asp31571Glu)
c.90111C>A (p.Asp30037Glu)
c.90108C>A (p.Asp30036Glu)
c.87150C>A (p.Asp29050Glu)
c.68766C>A (p.Asp22922Glu)
c.90261C>A (p.Asp30087Glu)
c.90258C>A (p.Asp30086Glu)
c.89691C>A (p.Asp29897Glu)
c.87033C>A (p.Asp29011Glu)
c.86952C>A (p.Asp28984Glu)
c.68715C>A (p.Asp22905Glu)
c.58569C>A (p.Asp19523Glu)
2g.178544410T>ACA349457177TTN,TTN-AS1c.88115A>T (p.Asp29372Val)
c.69200A>T (p.Asp23067Val)
c.68999A>T (p.Asp23000Val)
c.68624A>T (p.Asp22875Val)
c.95819A>T (p.Asp31940Val)
c.90896A>T (p.Asp30299Val)
n.446+20774T>A
n.2043+2049T>A
c.94916A>T (p.Asp31639Val)
c.68810A>T (p.Asp22937Val)
c.68669A>T (p.Asp22890Val)
c.94712A>T (p.Asp31571Val)
c.90110A>T (p.Asp30037Val)
c.90107A>T (p.Asp30036Val)
c.87149A>T (p.Asp29050Val)
c.68765A>T (p.Asp22922Val)
c.90260A>T (p.Asp30087Val)
c.90257A>T (p.Asp30086Val)
c.89690A>T (p.Asp29897Val)
c.87032A>T (p.Asp29011Val)
c.86951A>T (p.Asp28984Val)
c.68714A>T (p.Asp22905Val)
c.58568A>T (p.Asp19523Val)
 gnomAD v4
2g.178544410T>CCA349457170TTN,TTN-AS1c.88115A>G (p.Asp29372Gly)
c.69200A>G (p.Asp23067Gly)
c.68999A>G (p.Asp23000Gly)
c.68624A>G (p.Asp22875Gly)
c.95819A>G (p.Asp31940Gly)
c.90896A>G (p.Asp30299Gly)
n.446+20774T>C
n.2043+2049T>C
c.94916A>G (p.Asp31639Gly)
c.68810A>G (p.Asp22937Gly)
c.68669A>G (p.Asp22890Gly)
c.94712A>G (p.Asp31571Gly)
c.90110A>G (p.Asp30037Gly)
c.90107A>G (p.Asp30036Gly)
c.87149A>G (p.Asp29050Gly)
c.68765A>G (p.Asp22922Gly)
c.90260A>G (p.Asp30087Gly)
c.90257A>G (p.Asp30086Gly)
c.89690A>G (p.Asp29897Gly)
c.87032A>G (p.Asp29011Gly)
c.86951A>G (p.Asp28984Gly)
c.68714A>G (p.Asp22905Gly)
c.58568A>G (p.Asp19523Gly)
2g.178544410T>GCA349457172TTN,TTN-AS1c.88115A>C (p.Asp29372Ala)
c.69200A>C (p.Asp23067Ala)
c.68999A>C (p.Asp23000Ala)
c.68624A>C (p.Asp22875Ala)
c.95819A>C (p.Asp31940Ala)
c.90896A>C (p.Asp30299Ala)
n.446+20774T>G
n.2043+2049T>G
c.94916A>C (p.Asp31639Ala)
c.68810A>C (p.Asp22937Ala)
c.68669A>C (p.Asp22890Ala)
c.94712A>C (p.Asp31571Ala)
c.90110A>C (p.Asp30037Ala)
c.90107A>C (p.Asp30036Ala)
c.87149A>C (p.Asp29050Ala)
c.68765A>C (p.Asp22922Ala)
c.90260A>C (p.Asp30087Ala)
c.90257A>C (p.Asp30086Ala)
c.89690A>C (p.Asp29897Ala)
c.87032A>C (p.Asp29011Ala)
c.86951A>C (p.Asp28984Ala)
c.68714A>C (p.Asp22905Ala)
c.58568A>C (p.Asp19523Ala)
2g.178544411C>ACA349457188TTN,TTN-AS1c.88114G>T (p.Asp29372Tyr)
c.69199G>T (p.Asp23067Tyr)
c.68998G>T (p.Asp23000Tyr)
c.68623G>T (p.Asp22875Tyr)
c.95818G>T (p.Asp31940Tyr)
c.90895G>T (p.Asp30299Tyr)
n.446+20775C>A
n.2043+2050C>A
c.94915G>T (p.Asp31639Tyr)
c.68809G>T (p.Asp22937Tyr)
c.68668G>T (p.Asp22890Tyr)
c.94711G>T (p.Asp31571Tyr)
c.90109G>T (p.Asp30037Tyr)
c.90106G>T (p.Asp30036Tyr)
c.87148G>T (p.Asp29050Tyr)
c.68764G>T (p.Asp22922Tyr)
c.90259G>T (p.Asp30087Tyr)
c.90256G>T (p.Asp30086Tyr)
c.89689G>T (p.Asp29897Tyr)
c.87031G>T (p.Asp29011Tyr)
c.86950G>T (p.Asp28984Tyr)
c.68713G>T (p.Asp22905Tyr)
c.58567G>T (p.Asp19523Tyr)
2g.178544411C=CA1310521577TTN,TTN-AS1c.88114G= (p.Asp29372=)
c.69199G= (p.Asp23067=)
c.68998G= (p.Asp23000=)
c.68623G= (p.Asp22875=)
c.95818G= (p.Asp31940=)
c.90895G= (p.Asp30299=)
n.446+20775C=
n.2043+2050C=
c.94915G= (p.Asp31639=)
c.68809G= (p.Asp22937=)
c.68668G= (p.Asp22890=)
c.94711G= (p.Asp31571=)
c.90109G= (p.Asp30037=)
c.90106G= (p.Asp30036=)
c.87148G= (p.Asp29050=)
c.68764G= (p.Asp22922=)
c.90259G= (p.Asp30087=)
c.90256G= (p.Asp30086=)
c.89689G= (p.Asp29897=)
c.87031G= (p.Asp29011=)
c.86950G= (p.Asp28984=)
c.68713G= (p.Asp22905=)
c.58567G= (p.Asp19523=)
2g.178544411C>GCA349457190TTN,TTN-AS1c.88114G>C (p.Asp29372His)
c.69199G>C (p.Asp23067His)
c.68998G>C (p.Asp23000His)
c.68623G>C (p.Asp22875His)
c.95818G>C (p.Asp31940His)
c.90895G>C (p.Asp30299His)
n.446+20775C>G
n.2043+2050C>G
c.94915G>C (p.Asp31639His)
c.68809G>C (p.Asp22937His)
c.68668G>C (p.Asp22890His)
c.94711G>C (p.Asp31571His)
c.90109G>C (p.Asp30037His)
c.90106G>C (p.Asp30036His)
c.87148G>C (p.Asp29050His)
c.68764G>C (p.Asp22922His)
c.90259G>C (p.Asp30087His)
c.90256G>C (p.Asp30086His)
c.89689G>C (p.Asp29897His)
c.87031G>C (p.Asp29011His)
c.86950G>C (p.Asp28984His)
c.68713G>C (p.Asp22905His)
c.58567G>C (p.Asp19523His)
 gnomAD v4
2g.178544411C>TCA1986872TTN,TTN-AS1c.88114G>A (p.Asp29372Asn)
c.69199G>A (p.Asp23067Asn)
c.68998G>A (p.Asp23000Asn)
c.68623G>A (p.Asp22875Asn)
c.95818G>A (p.Asp31940Asn)
c.90895G>A (p.Asp30299Asn)
n.446+20775C>T
n.2043+2050C>T
c.94915G>A (p.Asp31639Asn)
c.68809G>A (p.Asp22937Asn)
c.68668G>A (p.Asp22890Asn)
c.94711G>A (p.Asp31571Asn)
c.90109G>A (p.Asp30037Asn)
c.90106G>A (p.Asp30036Asn)
c.87148G>A (p.Asp29050Asn)
c.68764G>A (p.Asp22922Asn)
c.90259G>A (p.Asp30087Asn)
c.90256G>A (p.Asp30086Asn)
c.89689G>A (p.Asp29897Asn)
c.87031G>A (p.Asp29011Asn)
c.86950G>A (p.Asp28984Asn)
c.68713G>A (p.Asp22905Asn)
c.58567G>A (p.Asp19523Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178544412A>CCA430241943TTN,TTN-AS1c.88113T>G (p.Thr29371=)
c.69198T>G (p.Thr23066=)
c.68997T>G (p.Thr22999=)
c.68622T>G (p.Thr22874=)
c.95817T>G (p.Thr31939=)
c.90894T>G (p.Thr30298=)
n.446+20776A>C
n.2043+2051A>C
c.94914T>G (p.Thr31638=)
c.68808T>G (p.Thr22936=)
c.68667T>G (p.Thr22889=)
c.94710T>G (p.Thr31570=)
c.90108T>G (p.Thr30036=)
c.90105T>G (p.Thr30035=)
c.87147T>G (p.Thr29049=)
c.68763T>G (p.Thr22921=)
c.90258T>G (p.Thr30086=)
c.90255T>G (p.Thr30085=)
c.89688T>G (p.Thr29896=)
c.87030T>G (p.Thr29010=)
c.86949T>G (p.Thr28983=)
c.68712T>G (p.Thr22904=)
c.58566T>G (p.Thr19522=)
2g.178544412A>GCA430241945TTN,TTN-AS1c.88113T>C (p.Thr29371=)
c.69198T>C (p.Thr23066=)
c.68997T>C (p.Thr22999=)
c.68622T>C (p.Thr22874=)
c.95817T>C (p.Thr31939=)
c.90894T>C (p.Thr30298=)
n.446+20776A>G
n.2043+2051A>G
c.94914T>C (p.Thr31638=)
c.68808T>C (p.Thr22936=)
c.68667T>C (p.Thr22889=)
c.94710T>C (p.Thr31570=)
c.90108T>C (p.Thr30036=)
c.90105T>C (p.Thr30035=)
c.87147T>C (p.Thr29049=)
c.68763T>C (p.Thr22921=)
c.90258T>C (p.Thr30086=)
c.90255T>C (p.Thr30085=)
c.89688T>C (p.Thr29896=)
c.87030T>C (p.Thr29010=)
c.86949T>C (p.Thr28983=)
c.68712T>C (p.Thr22904=)
c.58566T>C (p.Thr19522=)
2g.178544412A>TCA430241946TTN,TTN-AS1c.88113T>A (p.Thr29371=)
c.69198T>A (p.Thr23066=)
c.68997T>A (p.Thr22999=)
c.68622T>A (p.Thr22874=)
c.95817T>A (p.Thr31939=)
c.90894T>A (p.Thr30298=)
n.446+20776A>T
n.2043+2051A>T
c.94914T>A (p.Thr31638=)
c.68808T>A (p.Thr22936=)
c.68667T>A (p.Thr22889=)
c.94710T>A (p.Thr31570=)
c.90108T>A (p.Thr30036=)
c.90105T>A (p.Thr30035=)
c.87147T>A (p.Thr29049=)
c.68763T>A (p.Thr22921=)
c.90258T>A (p.Thr30086=)
c.90255T>A (p.Thr30085=)
c.89688T>A (p.Thr29896=)
c.87030T>A (p.Thr29010=)
c.86949T>A (p.Thr28983=)
c.68712T>A (p.Thr22904=)
c.58566T>A (p.Thr19522=)
2g.178544413G>ACA349457211TTN,TTN-AS1c.88112C>T (p.Thr29371Ile)
c.69197C>T (p.Thr23066Ile)
c.68996C>T (p.Thr22999Ile)
c.68621C>T (p.Thr22874Ile)
c.95816C>T (p.Thr31939Ile)
c.90893C>T (p.Thr30298Ile)
n.446+20777G>A
n.2043+2052G>A
c.94913C>T (p.Thr31638Ile)
c.68807C>T (p.Thr22936Ile)
c.68666C>T (p.Thr22889Ile)
c.94709C>T (p.Thr31570Ile)
c.90107C>T (p.Thr30036Ile)
c.90104C>T (p.Thr30035Ile)
c.87146C>T (p.Thr29049Ile)
c.68762C>T (p.Thr22921Ile)
c.90257C>T (p.Thr30086Ile)
c.90254C>T (p.Thr30085Ile)
c.89687C>T (p.Thr29896Ile)
c.87029C>T (p.Thr29010Ile)
c.86948C>T (p.Thr28983Ile)
c.68711C>T (p.Thr22904Ile)
c.58565C>T (p.Thr19522Ile)
 gnomAD v4
2g.178544413G>CCA349457233TTN,TTN-AS1c.88112C>G (p.Thr29371Ser)
c.69197C>G (p.Thr23066Ser)
c.68996C>G (p.Thr22999Ser)
c.68621C>G (p.Thr22874Ser)
c.95816C>G (p.Thr31939Ser)
c.90893C>G (p.Thr30298Ser)
n.446+20777G>C
n.2043+2052G>C
c.94913C>G (p.Thr31638Ser)
c.68807C>G (p.Thr22936Ser)
c.68666C>G (p.Thr22889Ser)
c.94709C>G (p.Thr31570Ser)
c.90107C>G (p.Thr30036Ser)
c.90104C>G (p.Thr30035Ser)
c.87146C>G (p.Thr29049Ser)
c.68762C>G (p.Thr22921Ser)
c.90257C>G (p.Thr30086Ser)
c.90254C>G (p.Thr30085Ser)
c.89687C>G (p.Thr29896Ser)
c.87029C>G (p.Thr29010Ser)
c.86948C>G (p.Thr28983Ser)
c.68711C>G (p.Thr22904Ser)
c.58565C>G (p.Thr19522Ser)
2g.178544413G>TCA349457251TTN,TTN-AS1c.88112C>A (p.Thr29371Asn)
c.69197C>A (p.Thr23066Asn)
c.68996C>A (p.Thr22999Asn)
c.68621C>A (p.Thr22874Asn)
c.95816C>A (p.Thr31939Asn)
c.90893C>A (p.Thr30298Asn)
n.446+20777G>T
n.2043+2052G>T
c.94913C>A (p.Thr31638Asn)
c.68807C>A (p.Thr22936Asn)
c.68666C>A (p.Thr22889Asn)
c.94709C>A (p.Thr31570Asn)
c.90107C>A (p.Thr30036Asn)
c.90104C>A (p.Thr30035Asn)
c.87146C>A (p.Thr29049Asn)
c.68762C>A (p.Thr22921Asn)
c.90257C>A (p.Thr30086Asn)
c.90254C>A (p.Thr30085Asn)
c.89687C>A (p.Thr29896Asn)
c.87029C>A (p.Thr29010Asn)
c.86948C>A (p.Thr28983Asn)
c.68711C>A (p.Thr22904Asn)
c.58565C>A (p.Thr19522Asn)
2g.178544414T>ACA349457254TTN,TTN-AS1c.88111A>T (p.Thr29371Ser)
c.69196A>T (p.Thr23066Ser)
c.68995A>T (p.Thr22999Ser)
c.68620A>T (p.Thr22874Ser)
c.95815A>T (p.Thr31939Ser)
c.90892A>T (p.Thr30298Ser)
n.446+20778T>A
n.2043+2053T>A
c.94912A>T (p.Thr31638Ser)
c.68806A>T (p.Thr22936Ser)
c.68665A>T (p.Thr22889Ser)
c.94708A>T (p.Thr31570Ser)
c.90106A>T (p.Thr30036Ser)
c.90103A>T (p.Thr30035Ser)
c.87145A>T (p.Thr29049Ser)
c.68761A>T (p.Thr22921Ser)
c.90256A>T (p.Thr30086Ser)
c.90253A>T (p.Thr30085Ser)
c.89686A>T (p.Thr29896Ser)
c.87028A>T (p.Thr29010Ser)
c.86947A>T (p.Thr28983Ser)
c.68710A>T (p.Thr22904Ser)
c.58564A>T (p.Thr19522Ser)
2g.178544414T>CCA1986873TTN,TTN-AS1c.88111A>G (p.Thr29371Ala)
c.69196A>G (p.Thr23066Ala)
c.68995A>G (p.Thr22999Ala)
c.68620A>G (p.Thr22874Ala)
c.95815A>G (p.Thr31939Ala)
c.90892A>G (p.Thr30298Ala)
n.446+20778T>C
n.2043+2053T>C
c.94912A>G (p.Thr31638Ala)
c.68806A>G (p.Thr22936Ala)
c.68665A>G (p.Thr22889Ala)
c.94708A>G (p.Thr31570Ala)
c.90106A>G (p.Thr30036Ala)
c.90103A>G (p.Thr30035Ala)
c.87145A>G (p.Thr29049Ala)
c.68761A>G (p.Thr22921Ala)
c.90256A>G (p.Thr30086Ala)
c.90253A>G (p.Thr30085Ala)
c.89686A>G (p.Thr29896Ala)
c.87028A>G (p.Thr29010Ala)
c.86947A>G (p.Thr28983Ala)
c.68710A>G (p.Thr22904Ala)
c.58564A>G (p.Thr19522Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178544414T>GCA349457260TTN,TTN-AS1c.88111A>C (p.Thr29371Pro)
c.69196A>C (p.Thr23066Pro)
c.68995A>C (p.Thr22999Pro)
c.68620A>C (p.Thr22874Pro)
c.95815A>C (p.Thr31939Pro)
c.90892A>C (p.Thr30298Pro)
n.446+20778T>G
n.2043+2053T>G
c.94912A>C (p.Thr31638Pro)
c.68806A>C (p.Thr22936Pro)
c.68665A>C (p.Thr22889Pro)
c.94708A>C (p.Thr31570Pro)
c.90106A>C (p.Thr30036Pro)
c.90103A>C (p.Thr30035Pro)
c.87145A>C (p.Thr29049Pro)
c.68761A>C (p.Thr22921Pro)
c.90256A>C (p.Thr30086Pro)
c.90253A>C (p.Thr30085Pro)
c.89686A>C (p.Thr29896Pro)
c.87028A>C (p.Thr29010Pro)
c.86947A>C (p.Thr28983Pro)
c.68710A>C (p.Thr22904Pro)
c.58564A>C (p.Thr19522Pro)
2g.178544414T=CA1310521578TTN,TTN-AS1c.88111A= (p.Thr29371=)
c.69196A= (p.Thr23066=)
c.68995A= (p.Thr22999=)
c.68620A= (p.Thr22874=)
c.95815A= (p.Thr31939=)
c.90892A= (p.Thr30298=)
n.446+20778T=
n.2043+2053T=
c.94912A= (p.Thr31638=)
c.68806A= (p.Thr22936=)
c.68665A= (p.Thr22889=)
c.94708A= (p.Thr31570=)
c.90106A= (p.Thr30036=)
c.90103A= (p.Thr30035=)
c.87145A= (p.Thr29049=)
c.68761A= (p.Thr22921=)
c.90256A= (p.Thr30086=)
c.90253A= (p.Thr30085=)
c.89686A= (p.Thr29896=)
c.87028A= (p.Thr29010=)
c.86947A= (p.Thr28983=)
c.68710A= (p.Thr22904=)
c.58564A= (p.Thr19522=)
2g.178544415A=CA1310521580TTN,TTN-AS1c.88110T= (p.Gly29370=)
c.69195T= (p.Gly23065=)
c.68994T= (p.Gly22998=)
c.68619T= (p.Gly22873=)
c.95814T= (p.Gly31938=)
c.90891T= (p.Gly30297=)
n.446+20779A=
n.2043+2054A=
c.94911T= (p.Gly31637=)
c.68805T= (p.Gly22935=)
c.68664T= (p.Gly22888=)
c.94707T= (p.Gly31569=)
c.90105T= (p.Gly30035=)
c.90102T= (p.Gly30034=)
c.87144T= (p.Gly29048=)
c.68760T= (p.Gly22920=)
c.90255T= (p.Gly30085=)
c.90252T= (p.Gly30084=)
c.89685T= (p.Gly29895=)
c.87027T= (p.Gly29009=)
c.86946T= (p.Gly28982=)
c.68709T= (p.Gly22903=)
c.58563T= (p.Gly19521=)
2g.178544415A>CCA430241955TTN,TTN-AS1c.88110T>G (p.Gly29370=)
c.69195T>G (p.Gly23065=)
c.68994T>G (p.Gly22998=)
c.68619T>G (p.Gly22873=)
c.95814T>G (p.Gly31938=)
c.90891T>G (p.Gly30297=)
n.446+20779A>C
n.2043+2054A>C
c.94911T>G (p.Gly31637=)
c.68805T>G (p.Gly22935=)
c.68664T>G (p.Gly22888=)
c.94707T>G (p.Gly31569=)
c.90105T>G (p.Gly30035=)
c.90102T>G (p.Gly30034=)
c.87144T>G (p.Gly29048=)
c.68760T>G (p.Gly22920=)
c.90255T>G (p.Gly30085=)
c.90252T>G (p.Gly30084=)
c.89685T>G (p.Gly29895=)
c.87027T>G (p.Gly29009=)
c.86946T>G (p.Gly28982=)
c.68709T>G (p.Gly22903=)
c.58563T>G (p.Gly19521=)
2g.178544415A>GCA430241956TTN,TTN-AS1c.88110T>C (p.Gly29370=)
c.69195T>C (p.Gly23065=)
c.68994T>C (p.Gly22998=)
c.68619T>C (p.Gly22873=)
c.95814T>C (p.Gly31938=)
c.90891T>C (p.Gly30297=)
n.446+20779A>G
n.2043+2054A>G
c.94911T>C (p.Gly31637=)
c.68805T>C (p.Gly22935=)
c.68664T>C (p.Gly22888=)
c.94707T>C (p.Gly31569=)
c.90105T>C (p.Gly30035=)
c.90102T>C (p.Gly30034=)
c.87144T>C (p.Gly29048=)
c.68760T>C (p.Gly22920=)
c.90255T>C (p.Gly30085=)
c.90252T>C (p.Gly30084=)
c.89685T>C (p.Gly29895=)
c.87027T>C (p.Gly29009=)
c.86946T>C (p.Gly28982=)
c.68709T>C (p.Gly22903=)
c.58563T>C (p.Gly19521=)
 dbSNP
2g.178544415A>TCA430241958TTN,TTN-AS1c.88110T>A (p.Gly29370=)
c.69195T>A (p.Gly23065=)
c.68994T>A (p.Gly22998=)
c.68619T>A (p.Gly22873=)
c.95814T>A (p.Gly31938=)
c.90891T>A (p.Gly30297=)
n.446+20779A>T
n.2043+2054A>T
c.94911T>A (p.Gly31637=)
c.68805T>A (p.Gly22935=)
c.68664T>A (p.Gly22888=)
c.94707T>A (p.Gly31569=)
c.90105T>A (p.Gly30035=)
c.90102T>A (p.Gly30034=)
c.87144T>A (p.Gly29048=)
c.68760T>A (p.Gly22920=)
c.90255T>A (p.Gly30085=)
c.90252T>A (p.Gly30084=)
c.89685T>A (p.Gly29895=)
c.87027T>A (p.Gly29009=)
c.86946T>A (p.Gly28982=)
c.68709T>A (p.Gly22903=)
c.58563T>A (p.Gly19521=)
2g.178544416C>ACA349457264TTN,TTN-AS1c.88109G>T (p.Gly29370Val)
c.69194G>T (p.Gly23065Val)
c.68993G>T (p.Gly22998Val)
c.68618G>T (p.Gly22873Val)
c.95813G>T (p.Gly31938Val)
c.90890G>T (p.Gly30297Val)
n.446+20780C>A
n.2043+2055C>A
c.94910G>T (p.Gly31637Val)
c.68804G>T (p.Gly22935Val)
c.68663G>T (p.Gly22888Val)
c.94706G>T (p.Gly31569Val)
c.90104G>T (p.Gly30035Val)
c.90101G>T (p.Gly30034Val)
c.87143G>T (p.Gly29048Val)
c.68759G>T (p.Gly22920Val)
c.90254G>T (p.Gly30085Val)
c.90251G>T (p.Gly30084Val)
c.89684G>T (p.Gly29895Val)
c.87026G>T (p.Gly29009Val)
c.86945G>T (p.Gly28982Val)
c.68708G>T (p.Gly22903Val)
c.58562G>T (p.Gly19521Val)
2g.178544416C=CA1310521581TTN,TTN-AS1c.88109G= (p.Gly29370=)
c.69194G= (p.Gly23065=)
c.68993G= (p.Gly22998=)
c.68618G= (p.Gly22873=)
c.95813G= (p.Gly31938=)
c.90890G= (p.Gly30297=)
n.446+20780C=
n.2043+2055C=
c.94910G= (p.Gly31637=)
c.68804G= (p.Gly22935=)
c.68663G= (p.Gly22888=)
c.94706G= (p.Gly31569=)
c.90104G= (p.Gly30035=)
c.90101G= (p.Gly30034=)
c.87143G= (p.Gly29048=)
c.68759G= (p.Gly22920=)
c.90254G= (p.Gly30085=)
c.90251G= (p.Gly30084=)
c.89684G= (p.Gly29895=)
c.87026G= (p.Gly29009=)
c.86945G= (p.Gly28982=)
c.68708G= (p.Gly22903=)
c.58562G= (p.Gly19521=)
2g.178544416C>GCA1986874TTN,TTN-AS1c.88109G>C (p.Gly29370Ala)
c.69194G>C (p.Gly23065Ala)
c.68993G>C (p.Gly22998Ala)
c.68618G>C (p.Gly22873Ala)
c.95813G>C (p.Gly31938Ala)
c.90890G>C (p.Gly30297Ala)
n.446+20780C>G
n.2043+2055C>G
c.94910G>C (p.Gly31637Ala)
c.68804G>C (p.Gly22935Ala)
c.68663G>C (p.Gly22888Ala)
c.94706G>C (p.Gly31569Ala)
c.90104G>C (p.Gly30035Ala)
c.90101G>C (p.Gly30034Ala)
c.87143G>C (p.Gly29048Ala)
c.68759G>C (p.Gly22920Ala)
c.90254G>C (p.Gly30085Ala)
c.90251G>C (p.Gly30084Ala)
c.89684G>C (p.Gly29895Ala)
c.87026G>C (p.Gly29009Ala)
c.86945G>C (p.Gly28982Ala)
c.68708G>C (p.Gly22903Ala)
c.58562G>C (p.Gly19521Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178544416C>TCA349457279TTN,TTN-AS1c.88109G>A (p.Gly29370Asp)
c.69194G>A (p.Gly23065Asp)
c.68993G>A (p.Gly22998Asp)
c.68618G>A (p.Gly22873Asp)
c.95813G>A (p.Gly31938Asp)
c.90890G>A (p.Gly30297Asp)
n.446+20780C>T
n.2043+2055C>T
c.94910G>A (p.Gly31637Asp)
c.68804G>A (p.Gly22935Asp)
c.68663G>A (p.Gly22888Asp)
c.94706G>A (p.Gly31569Asp)
c.90104G>A (p.Gly30035Asp)
c.90101G>A (p.Gly30034Asp)
c.87143G>A (p.Gly29048Asp)
c.68759G>A (p.Gly22920Asp)
c.90254G>A (p.Gly30085Asp)
c.90251G>A (p.Gly30084Asp)
c.89684G>A (p.Gly29895Asp)
c.87026G>A (p.Gly29009Asp)
c.86945G>A (p.Gly28982Asp)
c.68708G>A (p.Gly22903Asp)
c.58562G>A (p.Gly19521Asp)
2g.178544417C>ACA349457313TTN,TTN-AS1c.88108G>T (p.Gly29370Cys)
c.69193G>T (p.Gly23065Cys)
c.68992G>T (p.Gly22998Cys)
c.68617G>T (p.Gly22873Cys)
c.95812G>T (p.Gly31938Cys)
c.90889G>T (p.Gly30297Cys)
n.446+20781C>A
n.2043+2056C>A
c.94909G>T (p.Gly31637Cys)
c.68803G>T (p.Gly22935Cys)
c.68662G>T (p.Gly22888Cys)
c.94705G>T (p.Gly31569Cys)
c.90103G>T (p.Gly30035Cys)
c.90100G>T (p.Gly30034Cys)
c.87142G>T (p.Gly29048Cys)
c.68758G>T (p.Gly22920Cys)
c.90253G>T (p.Gly30085Cys)
c.90250G>T (p.Gly30084Cys)
c.89683G>T (p.Gly29895Cys)
c.87025G>T (p.Gly29009Cys)
c.86944G>T (p.Gly28982Cys)
c.68707G>T (p.Gly22903Cys)
c.58561G>T (p.Gly19521Cys)
2g.178544417C=CA1310521583TTN,TTN-AS1c.88108G= (p.Gly29370=)
c.69193G= (p.Gly23065=)
c.68992G= (p.Gly22998=)
c.68617G= (p.Gly22873=)
c.95812G= (p.Gly31938=)
c.90889G= (p.Gly30297=)
n.446+20781C=
n.2043+2056C=
c.94909G= (p.Gly31637=)
c.68803G= (p.Gly22935=)
c.68662G= (p.Gly22888=)
c.94705G= (p.Gly31569=)
c.90103G= (p.Gly30035=)
c.90100G= (p.Gly30034=)
c.87142G= (p.Gly29048=)
c.68758G= (p.Gly22920=)
c.90253G= (p.Gly30085=)
c.90250G= (p.Gly30084=)
c.89683G= (p.Gly29895=)
c.87025G= (p.Gly29009=)
c.86944G= (p.Gly28982=)
c.68707G= (p.Gly22903=)
c.58561G= (p.Gly19521=)
2g.178544417C>GCA349457321TTN,TTN-AS1c.88108G>C (p.Gly29370Arg)
c.69193G>C (p.Gly23065Arg)
c.68992G>C (p.Gly22998Arg)
c.68617G>C (p.Gly22873Arg)
c.95812G>C (p.Gly31938Arg)
c.90889G>C (p.Gly30297Arg)
n.446+20781C>G
n.2043+2056C>G
c.94909G>C (p.Gly31637Arg)
c.68803G>C (p.Gly22935Arg)
c.68662G>C (p.Gly22888Arg)
c.94705G>C (p.Gly31569Arg)
c.90103G>C (p.Gly30035Arg)
c.90100G>C (p.Gly30034Arg)
c.87142G>C (p.Gly29048Arg)
c.68758G>C (p.Gly22920Arg)
c.90253G>C (p.Gly30085Arg)
c.90250G>C (p.Gly30084Arg)
c.89683G>C (p.Gly29895Arg)
c.87025G>C (p.Gly29009Arg)
c.86944G>C (p.Gly28982Arg)
c.68707G>C (p.Gly22903Arg)
c.58561G>C (p.Gly19521Arg)
2g.178544417C>TCA349457297TTN,TTN-AS1c.88108G>A (p.Gly29370Ser)
c.69193G>A (p.Gly23065Ser)
c.68992G>A (p.Gly22998Ser)
c.68617G>A (p.Gly22873Ser)
c.95812G>A (p.Gly31938Ser)
c.90889G>A (p.Gly30297Ser)
n.446+20781C>T
n.2043+2056C>T
c.94909G>A (p.Gly31637Ser)
c.68803G>A (p.Gly22935Ser)
c.68662G>A (p.Gly22888Ser)
c.94705G>A (p.Gly31569Ser)
c.90103G>A (p.Gly30035Ser)
c.90100G>A (p.Gly30034Ser)
c.87142G>A (p.Gly29048Ser)
c.68758G>A (p.Gly22920Ser)
c.90253G>A (p.Gly30085Ser)
c.90250G>A (p.Gly30084Ser)
c.89683G>A (p.Gly29895Ser)
c.87025G>A (p.Gly29009Ser)
c.86944G>A (p.Gly28982Ser)
c.68707G>A (p.Gly22903Ser)
c.58561G>A (p.Gly19521Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178544418A>CCA430241971TTN,TTN-AS1c.88107T>G (p.Gly29369=)
c.69192T>G (p.Gly23064=)
c.68991T>G (p.Gly22997=)
c.68616T>G (p.Gly22872=)
c.95811T>G (p.Gly31937=)
c.90888T>G (p.Gly30296=)
n.446+20782A>C
n.2043+2057A>C
c.94908T>G (p.Gly31636=)
c.68802T>G (p.Gly22934=)
c.68661T>G (p.Gly22887=)
c.94704T>G (p.Gly31568=)
c.90102T>G (p.Gly30034=)
c.90099T>G (p.Gly30033=)
c.87141T>G (p.Gly29047=)
c.68757T>G (p.Gly22919=)
c.90252T>G (p.Gly30084=)
c.90249T>G (p.Gly30083=)
c.89682T>G (p.Gly29894=)
c.87024T>G (p.Gly29008=)
c.86943T>G (p.Gly28981=)
c.68706T>G (p.Gly22902=)
c.58560T>G (p.Gly19520=)
2g.178544418A>GCA430241973TTN,TTN-AS1c.88107T>C (p.Gly29369=)
c.69192T>C (p.Gly23064=)
c.68991T>C (p.Gly22997=)
c.68616T>C (p.Gly22872=)
c.95811T>C (p.Gly31937=)
c.90888T>C (p.Gly30296=)
n.446+20782A>G
n.2043+2057A>G
c.94908T>C (p.Gly31636=)
c.68802T>C (p.Gly22934=)
c.68661T>C (p.Gly22887=)
c.94704T>C (p.Gly31568=)
c.90102T>C (p.Gly30034=)
c.90099T>C (p.Gly30033=)
c.87141T>C (p.Gly29047=)
c.68757T>C (p.Gly22919=)
c.90252T>C (p.Gly30084=)
c.90249T>C (p.Gly30083=)
c.89682T>C (p.Gly29894=)
c.87024T>C (p.Gly29008=)
c.86943T>C (p.Gly28981=)
c.68706T>C (p.Gly22902=)
c.58560T>C (p.Gly19520=)
 ClinVar dbSNP
2g.178544418A>TCA430241974TTN,TTN-AS1c.88107T>A (p.Gly29369=)
c.69192T>A (p.Gly23064=)
c.68991T>A (p.Gly22997=)
c.68616T>A (p.Gly22872=)
c.95811T>A (p.Gly31937=)
c.90888T>A (p.Gly30296=)
n.446+20782A>T
n.2043+2057A>T
c.94908T>A (p.Gly31636=)
c.68802T>A (p.Gly22934=)
c.68661T>A (p.Gly22887=)
c.94704T>A (p.Gly31568=)
c.90102T>A (p.Gly30034=)
c.90099T>A (p.Gly30033=)
c.87141T>A (p.Gly29047=)
c.68757T>A (p.Gly22919=)
c.90252T>A (p.Gly30084=)
c.90249T>A (p.Gly30083=)
c.89682T>A (p.Gly29894=)
c.87024T>A (p.Gly29008=)
c.86943T>A (p.Gly28981=)
c.68706T>A (p.Gly22902=)
c.58560T>A (p.Gly19520=)
2g.178544419C>ACA349457335TTN,TTN-AS1c.88106G>T (p.Gly29369Val)
c.69191G>T (p.Gly23064Val)
c.68990G>T (p.Gly22997Val)
c.68615G>T (p.Gly22872Val)
c.95810G>T (p.Gly31937Val)
c.90887G>T (p.Gly30296Val)
n.446+20783C>A
n.2043+2058C>A
c.94907G>T (p.Gly31636Val)
c.68801G>T (p.Gly22934Val)
c.68660G>T (p.Gly22887Val)
c.94703G>T (p.Gly31568Val)
c.90101G>T (p.Gly30034Val)
c.90098G>T (p.Gly30033Val)
c.87140G>T (p.Gly29047Val)
c.68756G>T (p.Gly22919Val)
c.90251G>T (p.Gly30084Val)
c.90248G>T (p.Gly30083Val)
c.89681G>T (p.Gly29894Val)
c.87023G>T (p.Gly29008Val)
c.86942G>T (p.Gly28981Val)
c.68705G>T (p.Gly22902Val)
c.58559G>T (p.Gly19520Val)
2g.178544419C>GCA349457332TTN,TTN-AS1c.88106G>C (p.Gly29369Ala)
c.69191G>C (p.Gly23064Ala)
c.68990G>C (p.Gly22997Ala)
c.68615G>C (p.Gly22872Ala)
c.95810G>C (p.Gly31937Ala)
c.90887G>C (p.Gly30296Ala)
n.446+20783C>G
n.2043+2058C>G
c.94907G>C (p.Gly31636Ala)
c.68801G>C (p.Gly22934Ala)
c.68660G>C (p.Gly22887Ala)
c.94703G>C (p.Gly31568Ala)
c.90101G>C (p.Gly30034Ala)
c.90098G>C (p.Gly30033Ala)
c.87140G>C (p.Gly29047Ala)
c.68756G>C (p.Gly22919Ala)
c.90251G>C (p.Gly30084Ala)
c.90248G>C (p.Gly30083Ala)
c.89681G>C (p.Gly29894Ala)
c.87023G>C (p.Gly29008Ala)
c.86942G>C (p.Gly28981Ala)
c.68705G>C (p.Gly22902Ala)
c.58559G>C (p.Gly19520Ala)
2g.178544419C>TCA349457337TTN,TTN-AS1c.88106G>A (p.Gly29369Asp)
c.69191G>A (p.Gly23064Asp)
c.68990G>A (p.Gly22997Asp)
c.68615G>A (p.Gly22872Asp)
c.95810G>A (p.Gly31937Asp)
c.90887G>A (p.Gly30296Asp)
n.446+20783C>T
n.2043+2058C>T
c.94907G>A (p.Gly31636Asp)
c.68801G>A (p.Gly22934Asp)
c.68660G>A (p.Gly22887Asp)
c.94703G>A (p.Gly31568Asp)
c.90101G>A (p.Gly30034Asp)
c.90098G>A (p.Gly30033Asp)
c.87140G>A (p.Gly29047Asp)
c.68756G>A (p.Gly22919Asp)
c.90251G>A (p.Gly30084Asp)
c.90248G>A (p.Gly30083Asp)
c.89681G>A (p.Gly29894Asp)
c.87023G>A (p.Gly29008Asp)
c.86942G>A (p.Gly28981Asp)
c.68705G>A (p.Gly22902Asp)
c.58559G>A (p.Gly19520Asp)
2g.178544420C>ACA349457338TTN,TTN-AS1c.88105G>T (p.Gly29369Cys)
c.69190G>T (p.Gly23064Cys)
c.68989G>T (p.Gly22997Cys)
c.68614G>T (p.Gly22872Cys)
c.95809G>T (p.Gly31937Cys)
c.90886G>T (p.Gly30296Cys)
n.446+20784C>A
n.2043+2059C>A
c.94906G>T (p.Gly31636Cys)
c.68800G>T (p.Gly22934Cys)
c.68659G>T (p.Gly22887Cys)
c.94702G>T (p.Gly31568Cys)
c.90100G>T (p.Gly30034Cys)
c.90097G>T (p.Gly30033Cys)
c.87139G>T (p.Gly29047Cys)
c.68755G>T (p.Gly22919Cys)
c.90250G>T (p.Gly30084Cys)
c.90247G>T (p.Gly30083Cys)
c.89680G>T (p.Gly29894Cys)
c.87022G>T (p.Gly29008Cys)
c.86941G>T (p.Gly28981Cys)
c.68704G>T (p.Gly22902Cys)
c.58558G>T (p.Gly19520Cys)
2g.178544420C>GCA349457340TTN,TTN-AS1c.88105G>C (p.Gly29369Arg)
c.69190G>C (p.Gly23064Arg)
c.68989G>C (p.Gly22997Arg)
c.68614G>C (p.Gly22872Arg)
c.95809G>C (p.Gly31937Arg)
c.90886G>C (p.Gly30296Arg)
n.446+20784C>G
n.2043+2059C>G
c.94906G>C (p.Gly31636Arg)
c.68800G>C (p.Gly22934Arg)
c.68659G>C (p.Gly22887Arg)
c.94702G>C (p.Gly31568Arg)
c.90100G>C (p.Gly30034Arg)
c.90097G>C (p.Gly30033Arg)
c.87139G>C (p.Gly29047Arg)
c.68755G>C (p.Gly22919Arg)
c.90250G>C (p.Gly30084Arg)
c.90247G>C (p.Gly30083Arg)
c.89680G>C (p.Gly29894Arg)
c.87022G>C (p.Gly29008Arg)
c.86941G>C (p.Gly28981Arg)
c.68704G>C (p.Gly22902Arg)
c.58558G>C (p.Gly19520Arg)
2g.178544420C>TCA349457339TTN,TTN-AS1c.88105G>A (p.Gly29369Ser)
c.69190G>A (p.Gly23064Ser)
c.68989G>A (p.Gly22997Ser)
c.68614G>A (p.Gly22872Ser)
c.95809G>A (p.Gly31937Ser)
c.90886G>A (p.Gly30296Ser)
n.446+20784C>T
n.2043+2059C>T
c.94906G>A (p.Gly31636Ser)
c.68800G>A (p.Gly22934Ser)
c.68659G>A (p.Gly22887Ser)
c.94702G>A (p.Gly31568Ser)
c.90100G>A (p.Gly30034Ser)
c.90097G>A (p.Gly30033Ser)
c.87139G>A (p.Gly29047Ser)
c.68755G>A (p.Gly22919Ser)
c.90250G>A (p.Gly30084Ser)
c.90247G>A (p.Gly30083Ser)
c.89680G>A (p.Gly29894Ser)
c.87022G>A (p.Gly29008Ser)
c.86941G>A (p.Gly28981Ser)
c.68704G>A (p.Gly22902Ser)
c.58558G>A (p.Gly19520Ser)
2g.178544421A=CA1310521585TTN,TTN-AS1c.88104T= (p.Asp29368=)
c.69189T= (p.Asp23063=)
c.68988T= (p.Asp22996=)
c.68613T= (p.Asp22871=)
c.95808T= (p.Asp31936=)
c.90885T= (p.Asp30295=)
n.446+20785A=
n.2043+2060A=
c.94905T= (p.Asp31635=)
c.68799T= (p.Asp22933=)
c.68658T= (p.Asp22886=)
c.94701T= (p.Asp31567=)
c.90099T= (p.Asp30033=)
c.90096T= (p.Asp30032=)
c.87138T= (p.Asp29046=)
c.68754T= (p.Asp22918=)
c.90249T= (p.Asp30083=)
c.90246T= (p.Asp30082=)
c.89679T= (p.Asp29893=)
c.87021T= (p.Asp29007=)
c.86940T= (p.Asp28980=)
c.68703T= (p.Asp22901=)
c.58557T= (p.Asp19519=)
2g.178544421A>CCA349457346TTN,TTN-AS1c.88104T>G (p.Asp29368Glu)
c.69189T>G (p.Asp23063Glu)
c.68988T>G (p.Asp22996Glu)
c.68613T>G (p.Asp22871Glu)
c.95808T>G (p.Asp31936Glu)
c.90885T>G (p.Asp30295Glu)
n.446+20785A>C
n.2043+2060A>C
c.94905T>G (p.Asp31635Glu)
c.68799T>G (p.Asp22933Glu)
c.68658T>G (p.Asp22886Glu)
c.94701T>G (p.Asp31567Glu)
c.90099T>G (p.Asp30033Glu)
c.90096T>G (p.Asp30032Glu)
c.87138T>G (p.Asp29046Glu)
c.68754T>G (p.Asp22918Glu)
c.90249T>G (p.Asp30083Glu)
c.90246T>G (p.Asp30082Glu)
c.89679T>G (p.Asp29893Glu)
c.87021T>G (p.Asp29007Glu)
c.86940T>G (p.Asp28980Glu)
c.68703T>G (p.Asp22901Glu)
c.58557T>G (p.Asp19519Glu)
2g.178544421A>GCA430241984TTN,TTN-AS1c.88104T>C (p.Asp29368=)
c.69189T>C (p.Asp23063=)
c.68988T>C (p.Asp22996=)
c.68613T>C (p.Asp22871=)
c.95808T>C (p.Asp31936=)
c.90885T>C (p.Asp30295=)
n.446+20785A>G
n.2043+2060A>G
c.94905T>C (p.Asp31635=)
c.68799T>C (p.Asp22933=)
c.68658T>C (p.Asp22886=)
c.94701T>C (p.Asp31567=)
c.90099T>C (p.Asp30033=)
c.90096T>C (p.Asp30032=)
c.87138T>C (p.Asp29046=)
c.68754T>C (p.Asp22918=)
c.90249T>C (p.Asp30083=)
c.90246T>C (p.Asp30082=)
c.89679T>C (p.Asp29893=)
c.87021T>C (p.Asp29007=)
c.86940T>C (p.Asp28980=)
c.68703T>C (p.Asp22901=)
c.58557T>C (p.Asp19519=)
2g.178544421A>TCA349457347TTN,TTN-AS1c.88104T>A (p.Asp29368Glu)
c.69189T>A (p.Asp23063Glu)
c.68988T>A (p.Asp22996Glu)
c.68613T>A (p.Asp22871Glu)
c.95808T>A (p.Asp31936Glu)
c.90885T>A (p.Asp30295Glu)
n.446+20785A>T
n.2043+2060A>T
c.94905T>A (p.Asp31635Glu)
c.68799T>A (p.Asp22933Glu)
c.68658T>A (p.Asp22886Glu)
c.94701T>A (p.Asp31567Glu)
c.90099T>A (p.Asp30033Glu)
c.90096T>A (p.Asp30032Glu)
c.87138T>A (p.Asp29046Glu)
c.68754T>A (p.Asp22918Glu)
c.90249T>A (p.Asp30083Glu)
c.90246T>A (p.Asp30082Glu)
c.89679T>A (p.Asp29893Glu)
c.87021T>A (p.Asp29007Glu)
c.86940T>A (p.Asp28980Glu)
c.68703T>A (p.Asp22901Glu)
c.58557T>A (p.Asp19519Glu)
 dbSNP gnomAD v4
2g.178544422T>ACA349457351TTN,TTN-AS1c.88103A>T (p.Asp29368Val)
c.69188A>T (p.Asp23063Val)
c.68987A>T (p.Asp22996Val)
c.68612A>T (p.Asp22871Val)
c.95807A>T (p.Asp31936Val)
c.90884A>T (p.Asp30295Val)
n.446+20786T>A
n.2043+2061T>A
c.94904A>T (p.Asp31635Val)
c.68798A>T (p.Asp22933Val)
c.68657A>T (p.Asp22886Val)
c.94700A>T (p.Asp31567Val)
c.90098A>T (p.Asp30033Val)
c.90095A>T (p.Asp30032Val)
c.87137A>T (p.Asp29046Val)
c.68753A>T (p.Asp22918Val)
c.90248A>T (p.Asp30083Val)
c.90245A>T (p.Asp30082Val)
c.89678A>T (p.Asp29893Val)
c.87020A>T (p.Asp29007Val)
c.86939A>T (p.Asp28980Val)
c.68702A>T (p.Asp22901Val)
c.58556A>T (p.Asp19519Val)
2g.178544422T>CCA349457354TTN,TTN-AS1c.88103A>G (p.Asp29368Gly)
c.69188A>G (p.Asp23063Gly)
c.68987A>G (p.Asp22996Gly)
c.68612A>G (p.Asp22871Gly)
c.95807A>G (p.Asp31936Gly)
c.90884A>G (p.Asp30295Gly)
n.446+20786T>C
n.2043+2061T>C
c.94904A>G (p.Asp31635Gly)
c.68798A>G (p.Asp22933Gly)
c.68657A>G (p.Asp22886Gly)
c.94700A>G (p.Asp31567Gly)
c.90098A>G (p.Asp30033Gly)
c.90095A>G (p.Asp30032Gly)
c.87137A>G (p.Asp29046Gly)
c.68753A>G (p.Asp22918Gly)
c.90248A>G (p.Asp30083Gly)
c.90245A>G (p.Asp30082Gly)
c.89678A>G (p.Asp29893Gly)
c.87020A>G (p.Asp29007Gly)
c.86939A>G (p.Asp28980Gly)
c.68702A>G (p.Asp22901Gly)
c.58556A>G (p.Asp19519Gly)
2g.178544422T>GCA349457352TTN,TTN-AS1c.88103A>C (p.Asp29368Ala)
c.69188A>C (p.Asp23063Ala)
c.68987A>C (p.Asp22996Ala)
c.68612A>C (p.Asp22871Ala)
c.95807A>C (p.Asp31936Ala)
c.90884A>C (p.Asp30295Ala)
n.446+20786T>G
n.2043+2061T>G
c.94904A>C (p.Asp31635Ala)
c.68798A>C (p.Asp22933Ala)
c.68657A>C (p.Asp22886Ala)
c.94700A>C (p.Asp31567Ala)
c.90098A>C (p.Asp30033Ala)
c.90095A>C (p.Asp30032Ala)
c.87137A>C (p.Asp29046Ala)
c.68753A>C (p.Asp22918Ala)
c.90248A>C (p.Asp30083Ala)
c.90245A>C (p.Asp30082Ala)
c.89678A>C (p.Asp29893Ala)
c.87020A>C (p.Asp29007Ala)
c.86939A>C (p.Asp28980Ala)
c.68702A>C (p.Asp22901Ala)
c.58556A>C (p.Asp19519Ala)
2g.178544423delCA2740095973TTN,TTN-AS1c.88102del (p.Asp29368MetfsTer7)
c.69187del (p.Asp23063MetfsTer7)
c.68986del (p.Asp22996MetfsTer7)
c.68611del (p.Asp22871MetfsTer7)
c.95806del (p.Asp31936MetfsTer7)
c.90883del (p.Asp30295MetfsTer7)
n.446+20787del
n.2043+2062del
c.94903del (p.Asp31635MetfsTer7)
c.68797del (p.Asp22933MetfsTer7)
c.68656del (p.Asp22886MetfsTer7)
c.94699del (p.Asp31567MetfsTer7)
c.90097del (p.Asp30033MetfsTer7)
c.90094del (p.Asp30032MetfsTer7)
c.87136del (p.Asp29046MetfsTer7)
c.68752del (p.Asp22918MetfsTer7)
c.90247del (p.Asp30083MetfsTer7)
c.90244del (p.Asp30082MetfsTer7)
c.89677del (p.Asp29893MetfsTer7)
c.87019del (p.Asp29007MetfsTer7)
c.86938del (p.Asp28980MetfsTer7)
c.68701del (p.Asp22901MetfsTer7)
c.58555del (p.Asp19519MetfsTer7)
 ClinVar
2g.178544423C>ACA349457358TTN,TTN-AS1c.88102G>T (p.Asp29368Tyr)
c.69187G>T (p.Asp23063Tyr)
c.68986G>T (p.Asp22996Tyr)
c.68611G>T (p.Asp22871Tyr)
c.95806G>T (p.Asp31936Tyr)
c.90883G>T (p.Asp30295Tyr)
n.446+20787C>A
n.2043+2062C>A
c.94903G>T (p.Asp31635Tyr)
c.68797G>T (p.Asp22933Tyr)
c.68656G>T (p.Asp22886Tyr)
c.94699G>T (p.Asp31567Tyr)
c.90097G>T (p.Asp30033Tyr)
c.90094G>T (p.Asp30032Tyr)
c.87136G>T (p.Asp29046Tyr)
c.68752G>T (p.Asp22918Tyr)
c.90247G>T (p.Asp30083Tyr)
c.90244G>T (p.Asp30082Tyr)
c.89677G>T (p.Asp29893Tyr)
c.87019G>T (p.Asp29007Tyr)
c.86938G>T (p.Asp28980Tyr)
c.68701G>T (p.Asp22901Tyr)
c.58555G>T (p.Asp19519Tyr)
2g.178544423C=CA1310521588TTN,TTN-AS1c.88102G= (p.Asp29368=)
c.69187G= (p.Asp23063=)
c.68986G= (p.Asp22996=)
c.68611G= (p.Asp22871=)
c.95806G= (p.Asp31936=)
c.90883G= (p.Asp30295=)
n.446+20787C=
n.2043+2062C=
c.94903G= (p.Asp31635=)
c.68797G= (p.Asp22933=)
c.68656G= (p.Asp22886=)
c.94699G= (p.Asp31567=)
c.90097G= (p.Asp30033=)
c.90094G= (p.Asp30032=)
c.87136G= (p.Asp29046=)
c.68752G= (p.Asp22918=)
c.90247G= (p.Asp30083=)
c.90244G= (p.Asp30082=)
c.89677G= (p.Asp29893=)
c.87019G= (p.Asp29007=)
c.86938G= (p.Asp28980=)
c.68701G= (p.Asp22901=)
c.58555G= (p.Asp19519=)
2g.178544423C>GCA349457359TTN,TTN-AS1c.88102G>C (p.Asp29368His)
c.69187G>C (p.Asp23063His)
c.68986G>C (p.Asp22996His)
c.68611G>C (p.Asp22871His)
c.95806G>C (p.Asp31936His)
c.90883G>C (p.Asp30295His)
n.446+20787C>G
n.2043+2062C>G
c.94903G>C (p.Asp31635His)
c.68797G>C (p.Asp22933His)
c.68656G>C (p.Asp22886His)
c.94699G>C (p.Asp31567His)
c.90097G>C (p.Asp30033His)
c.90094G>C (p.Asp30032His)
c.87136G>C (p.Asp29046His)
c.68752G>C (p.Asp22918His)
c.90247G>C (p.Asp30083His)
c.90244G>C (p.Asp30082His)
c.89677G>C (p.Asp29893His)
c.87019G>C (p.Asp29007His)
c.86938G>C (p.Asp28980His)
c.68701G>C (p.Asp22901His)
c.58555G>C (p.Asp19519His)
2g.178544423C>TCA178413TTN,TTN-AS1c.88102G>A (p.Asp29368Asn)
c.69187G>A (p.Asp23063Asn)
c.68986G>A (p.Asp22996Asn)
c.68611G>A (p.Asp22871Asn)
c.95806G>A (p.Asp31936Asn)
c.90883G>A (p.Asp30295Asn)
n.446+20787C>T
n.2043+2062C>T
c.94903G>A (p.Asp31635Asn)
c.68797G>A (p.Asp22933Asn)
c.68656G>A (p.Asp22886Asn)
c.94699G>A (p.Asp31567Asn)
c.90097G>A (p.Asp30033Asn)
c.90094G>A (p.Asp30032Asn)
c.87136G>A (p.Asp29046Asn)
c.68752G>A (p.Asp22918Asn)
c.90247G>A (p.Asp30083Asn)
c.90244G>A (p.Asp30082Asn)
c.89677G>A (p.Asp29893Asn)
c.87019G>A (p.Asp29007Asn)
c.86938G>A (p.Asp28980Asn)
c.68701G>A (p.Asp22901Asn)
c.58555G>A (p.Asp19519Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178544424G>ACA1986875TTN,TTN-AS1c.88101C>T (p.Tyr29367=)
c.69186C>T (p.Tyr23062=)
c.68985C>T (p.Tyr22995=)
c.68610C>T (p.Tyr22870=)
c.95805C>T (p.Tyr31935=)
c.90882C>T (p.Tyr30294=)
n.446+20788G>A
n.2043+2063G>A
c.94902C>T (p.Tyr31634=)
c.68796C>T (p.Tyr22932=)
c.68655C>T (p.Tyr22885=)
c.94698C>T (p.Tyr31566=)
c.90096C>T (p.Tyr30032=)
c.90093C>T (p.Tyr30031=)
c.87135C>T (p.Tyr29045=)
c.68751C>T (p.Tyr22917=)
c.90246C>T (p.Tyr30082=)
c.90243C>T (p.Tyr30081=)
c.89676C>T (p.Tyr29892=)
c.87018C>T (p.Tyr29006=)
c.86937C>T (p.Tyr28979=)
c.68700C>T (p.Tyr22900=)
c.58554C>T (p.Tyr19518=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178544424G>CCA349457380TTN,TTN-AS1c.88101C>G (p.Tyr29367Ter)
c.69186C>G (p.Tyr23062Ter)
c.68985C>G (p.Tyr22995Ter)
c.68610C>G (p.Tyr22870Ter)
c.95805C>G (p.Tyr31935Ter)
c.90882C>G (p.Tyr30294Ter)
n.446+20788G>C
n.2043+2063G>C
c.94902C>G (p.Tyr31634Ter)
c.68796C>G (p.Tyr22932Ter)
c.68655C>G (p.Tyr22885Ter)
c.94698C>G (p.Tyr31566Ter)
c.90096C>G (p.Tyr30032Ter)
c.90093C>G (p.Tyr30031Ter)
c.87135C>G (p.Tyr29045Ter)
c.68751C>G (p.Tyr22917Ter)
c.90246C>G (p.Tyr30082Ter)
c.90243C>G (p.Tyr30081Ter)
c.89676C>G (p.Tyr29892Ter)
c.87018C>G (p.Tyr29006Ter)
c.86937C>G (p.Tyr28979Ter)
c.68700C>G (p.Tyr22900Ter)
c.58554C>G (p.Tyr19518Ter)
2g.178544424G=CA1310521591TTN,TTN-AS1c.88101C= (p.Tyr29367=)
c.69186C= (p.Tyr23062=)
c.68985C= (p.Tyr22995=)
c.68610C= (p.Tyr22870=)
c.95805C= (p.Tyr31935=)
c.90882C= (p.Tyr30294=)
n.446+20788G=
n.2043+2063G=
c.94902C= (p.Tyr31634=)
c.68796C= (p.Tyr22932=)
c.68655C= (p.Tyr22885=)
c.94698C= (p.Tyr31566=)
c.90096C= (p.Tyr30032=)
c.90093C= (p.Tyr30031=)
c.87135C= (p.Tyr29045=)
c.68751C= (p.Tyr22917=)
c.90246C= (p.Tyr30082=)
c.90243C= (p.Tyr30081=)
c.89676C= (p.Tyr29892=)
c.87018C= (p.Tyr29006=)
c.86937C= (p.Tyr28979=)
c.68700C= (p.Tyr22900=)
c.58554C= (p.Tyr19518=)
2g.178544424G>TCA16610217TTN,TTN-AS1c.88101C>A (p.Tyr29367Ter)
c.69186C>A (p.Tyr23062Ter)
c.68985C>A (p.Tyr22995Ter)
c.68610C>A (p.Tyr22870Ter)
c.95805C>A (p.Tyr31935Ter)
c.90882C>A (p.Tyr30294Ter)
n.446+20788G>T
n.2043+2063G>T
c.94902C>A (p.Tyr31634Ter)
c.68796C>A (p.Tyr22932Ter)
c.68655C>A (p.Tyr22885Ter)
c.94698C>A (p.Tyr31566Ter)
c.90096C>A (p.Tyr30032Ter)
c.90093C>A (p.Tyr30031Ter)
c.87135C>A (p.Tyr29045Ter)
c.68751C>A (p.Tyr22917Ter)
c.90246C>A (p.Tyr30082Ter)
c.90243C>A (p.Tyr30081Ter)
c.89676C>A (p.Tyr29892Ter)
c.87018C>A (p.Tyr29006Ter)
c.86937C>A (p.Tyr28979Ter)
c.68700C>A (p.Tyr22900Ter)
c.58554C>A (p.Tyr19518Ter)
 ClinVar dbSNP
2g.178544425T>ACA349457392TTN,TTN-AS1c.88100A>T (p.Tyr29367Phe)
c.69185A>T (p.Tyr23062Phe)
c.68984A>T (p.Tyr22995Phe)
c.68609A>T (p.Tyr22870Phe)
c.95804A>T (p.Tyr31935Phe)
c.90881A>T (p.Tyr30294Phe)
n.446+20789T>A
n.2043+2064T>A
c.94901A>T (p.Tyr31634Phe)
c.68795A>T (p.Tyr22932Phe)
c.68654A>T (p.Tyr22885Phe)
c.94697A>T (p.Tyr31566Phe)
c.90095A>T (p.Tyr30032Phe)
c.90092A>T (p.Tyr30031Phe)
c.87134A>T (p.Tyr29045Phe)
c.68750A>T (p.Tyr22917Phe)
c.90245A>T (p.Tyr30082Phe)
c.90242A>T (p.Tyr30081Phe)
c.89675A>T (p.Tyr29892Phe)
c.87017A>T (p.Tyr29006Phe)
c.86936A>T (p.Tyr28979Phe)
c.68699A>T (p.Tyr22900Phe)
c.58553A>T (p.Tyr19518Phe)
2g.178544425T>CCA349457395TTN,TTN-AS1c.88100A>G (p.Tyr29367Cys)
c.69185A>G (p.Tyr23062Cys)
c.68984A>G (p.Tyr22995Cys)
c.68609A>G (p.Tyr22870Cys)
c.95804A>G (p.Tyr31935Cys)
c.90881A>G (p.Tyr30294Cys)
n.446+20789T>C
n.2043+2064T>C
c.94901A>G (p.Tyr31634Cys)
c.68795A>G (p.Tyr22932Cys)
c.68654A>G (p.Tyr22885Cys)
c.94697A>G (p.Tyr31566Cys)
c.90095A>G (p.Tyr30032Cys)
c.90092A>G (p.Tyr30031Cys)
c.87134A>G (p.Tyr29045Cys)
c.68750A>G (p.Tyr22917Cys)
c.90245A>G (p.Tyr30082Cys)
c.90242A>G (p.Tyr30081Cys)
c.89675A>G (p.Tyr29892Cys)
c.87017A>G (p.Tyr29006Cys)
c.86936A>G (p.Tyr28979Cys)
c.68699A>G (p.Tyr22900Cys)
c.58553A>G (p.Tyr19518Cys)
2g.178544425T>GCA349457401TTN,TTN-AS1c.88100A>C (p.Tyr29367Ser)
c.69185A>C (p.Tyr23062Ser)
c.68984A>C (p.Tyr22995Ser)
c.68609A>C (p.Tyr22870Ser)
c.95804A>C (p.Tyr31935Ser)
c.90881A>C (p.Tyr30294Ser)
n.446+20789T>G
n.2043+2064T>G
c.94901A>C (p.Tyr31634Ser)
c.68795A>C (p.Tyr22932Ser)
c.68654A>C (p.Tyr22885Ser)
c.94697A>C (p.Tyr31566Ser)
c.90095A>C (p.Tyr30032Ser)
c.90092A>C (p.Tyr30031Ser)
c.87134A>C (p.Tyr29045Ser)
c.68750A>C (p.Tyr22917Ser)
c.90245A>C (p.Tyr30082Ser)
c.90242A>C (p.Tyr30081Ser)
c.89675A>C (p.Tyr29892Ser)
c.87017A>C (p.Tyr29006Ser)
c.86936A>C (p.Tyr28979Ser)
c.68699A>C (p.Tyr22900Ser)
c.58553A>C (p.Tyr19518Ser)
2g.178544426A>CCA349457411TTN,TTN-AS1c.88099T>G (p.Tyr29367Asp)
c.69184T>G (p.Tyr23062Asp)
c.68983T>G (p.Tyr22995Asp)
c.68608T>G (p.Tyr22870Asp)
c.95803T>G (p.Tyr31935Asp)
c.90880T>G (p.Tyr30294Asp)
n.446+20790A>C
n.2043+2065A>C
c.94900T>G (p.Tyr31634Asp)
c.68794T>G (p.Tyr22932Asp)
c.68653T>G (p.Tyr22885Asp)
c.94696T>G (p.Tyr31566Asp)
c.90094T>G (p.Tyr30032Asp)
c.90091T>G (p.Tyr30031Asp)
c.87133T>G (p.Tyr29045Asp)
c.68749T>G (p.Tyr22917Asp)
c.90244T>G (p.Tyr30082Asp)
c.90241T>G (p.Tyr30081Asp)
c.89674T>G (p.Tyr29892Asp)
c.87016T>G (p.Tyr29006Asp)
c.86935T>G (p.Tyr28979Asp)
c.68698T>G (p.Tyr22900Asp)
c.58552T>G (p.Tyr19518Asp)
2g.178544426A>GCA349457440TTN,TTN-AS1c.88099T>C (p.Tyr29367His)
c.69184T>C (p.Tyr23062His)
c.68983T>C (p.Tyr22995His)
c.68608T>C (p.Tyr22870His)
c.95803T>C (p.Tyr31935His)
c.90880T>C (p.Tyr30294His)
n.446+20790A>G
n.2043+2065A>G
c.94900T>C (p.Tyr31634His)
c.68794T>C (p.Tyr22932His)
c.68653T>C (p.Tyr22885His)
c.94696T>C (p.Tyr31566His)
c.90094T>C (p.Tyr30032His)
c.90091T>C (p.Tyr30031His)
c.87133T>C (p.Tyr29045His)
c.68749T>C (p.Tyr22917His)
c.90244T>C (p.Tyr30082His)
c.90241T>C (p.Tyr30081His)
c.89674T>C (p.Tyr29892His)
c.87016T>C (p.Tyr29006His)
c.86935T>C (p.Tyr28979His)
c.68698T>C (p.Tyr22900His)
c.58552T>C (p.Tyr19518His)
2g.178544426A>TCA349457443TTN,TTN-AS1c.88099T>A (p.Tyr29367Asn)
c.69184T>A (p.Tyr23062Asn)
c.68983T>A (p.Tyr22995Asn)
c.68608T>A (p.Tyr22870Asn)
c.95803T>A (p.Tyr31935Asn)
c.90880T>A (p.Tyr30294Asn)
n.446+20790A>T
n.2043+2065A>T
c.94900T>A (p.Tyr31634Asn)
c.68794T>A (p.Tyr22932Asn)
c.68653T>A (p.Tyr22885Asn)
c.94696T>A (p.Tyr31566Asn)
c.90094T>A (p.Tyr30032Asn)
c.90091T>A (p.Tyr30031Asn)
c.87133T>A (p.Tyr29045Asn)
c.68749T>A (p.Tyr22917Asn)
c.90244T>A (p.Tyr30082Asn)
c.90241T>A (p.Tyr30081Asn)
c.89674T>A (p.Tyr29892Asn)
c.87016T>A (p.Tyr29006Asn)
c.86935T>A (p.Tyr28979Asn)
c.68698T>A (p.Tyr22900Asn)
c.58552T>A (p.Tyr19518Asn)
2g.178544427delCA2740095974TTN,TTN-AS1c.88098del (p.Met29366IlefsTer9)
c.69183del (p.Met23061IlefsTer9)
c.68982del (p.Met22994IlefsTer9)
c.68607del (p.Met22869IlefsTer9)
c.95802del (p.Met31934IlefsTer9)
c.90879del (p.Met30293IlefsTer9)
n.446+20791del
n.2043+2066del
c.94899del (p.Met31633IlefsTer9)
c.68793del (p.Met22931IlefsTer9)
c.68652del (p.Met22884IlefsTer9)
c.94695del (p.Met31565IlefsTer9)
c.90093del (p.Met30031IlefsTer9)
c.90090del (p.Met30030IlefsTer9)
c.87132del (p.Met29044IlefsTer9)
c.68748del (p.Met22916IlefsTer9)
c.90243del (p.Met30081IlefsTer9)
c.90240del (p.Met30080IlefsTer9)
c.89673del (p.Met29891IlefsTer9)
c.87015del (p.Met29005IlefsTer9)
c.86934del (p.Met28978IlefsTer9)
c.68697del (p.Met22899IlefsTer9)
c.58551del (p.Met19517IlefsTer9)
 ClinVar
2g.178544427C>ACA349457448TTN,TTN-AS1c.88098G>T (p.Met29366Ile)
c.69183G>T (p.Met23061Ile)
c.68982G>T (p.Met22994Ile)
c.68607G>T (p.Met22869Ile)
c.95802G>T (p.Met31934Ile)
c.90879G>T (p.Met30293Ile)
n.446+20791C>A
n.2043+2066C>A
c.94899G>T (p.Met31633Ile)
c.68793G>T (p.Met22931Ile)
c.68652G>T (p.Met22884Ile)
c.94695G>T (p.Met31565Ile)
c.90093G>T (p.Met30031Ile)
c.90090G>T (p.Met30030Ile)
c.87132G>T (p.Met29044Ile)
c.68748G>T (p.Met22916Ile)
c.90243G>T (p.Met30081Ile)
c.90240G>T (p.Met30080Ile)
c.89673G>T (p.Met29891Ile)
c.87015G>T (p.Met29005Ile)
c.86934G>T (p.Met28978Ile)
c.68697G>T (p.Met22899Ile)
c.58551G>T (p.Met19517Ile)
2g.178544427C=CA1310521593TTN,TTN-AS1c.88098G= (p.Met29366=)
c.69183G= (p.Met23061=)
c.68982G= (p.Met22994=)
c.68607G= (p.Met22869=)
c.95802G= (p.Met31934=)
c.90879G= (p.Met30293=)
n.446+20791C=
n.2043+2066C=
c.94899G= (p.Met31633=)
c.68793G= (p.Met22931=)
c.68652G= (p.Met22884=)
c.94695G= (p.Met31565=)
c.90093G= (p.Met30031=)
c.90090G= (p.Met30030=)
c.87132G= (p.Met29044=)
c.68748G= (p.Met22916=)
c.90243G= (p.Met30081=)
c.90240G= (p.Met30080=)
c.89673G= (p.Met29891=)
c.87015G= (p.Met29005=)
c.86934G= (p.Met28978=)
c.68697G= (p.Met22899=)
c.58551G= (p.Met19517=)
2g.178544427C>GCA349457453TTN,TTN-AS1c.88098G>C (p.Met29366Ile)
c.69183G>C (p.Met23061Ile)
c.68982G>C (p.Met22994Ile)
c.68607G>C (p.Met22869Ile)
c.95802G>C (p.Met31934Ile)
c.90879G>C (p.Met30293Ile)
n.446+20791C>G
n.2043+2066C>G
c.94899G>C (p.Met31633Ile)
c.68793G>C (p.Met22931Ile)
c.68652G>C (p.Met22884Ile)
c.94695G>C (p.Met31565Ile)
c.90093G>C (p.Met30031Ile)
c.90090G>C (p.Met30030Ile)
c.87132G>C (p.Met29044Ile)
c.68748G>C (p.Met22916Ile)
c.90243G>C (p.Met30081Ile)
c.90240G>C (p.Met30080Ile)
c.89673G>C (p.Met29891Ile)
c.87015G>C (p.Met29005Ile)
c.86934G>C (p.Met28978Ile)
c.68697G>C (p.Met22899Ile)
c.58551G>C (p.Met19517Ile)
2g.178544427C>TCA349457452TTN,TTN-AS1c.88098G>A (p.Met29366Ile)
c.69183G>A (p.Met23061Ile)
c.68982G>A (p.Met22994Ile)
c.68607G>A (p.Met22869Ile)
c.95802G>A (p.Met31934Ile)
c.90879G>A (p.Met30293Ile)
n.446+20791C>T
n.2043+2066C>T
c.94899G>A (p.Met31633Ile)
c.68793G>A (p.Met22931Ile)
c.68652G>A (p.Met22884Ile)
c.94695G>A (p.Met31565Ile)
c.90093G>A (p.Met30031Ile)
c.90090G>A (p.Met30030Ile)
c.87132G>A (p.Met29044Ile)
c.68748G>A (p.Met22916Ile)
c.90243G>A (p.Met30081Ile)
c.90240G>A (p.Met30080Ile)
c.89673G>A (p.Met29891Ile)
c.87015G>A (p.Met29005Ile)
c.86934G>A (p.Met28978Ile)
c.68697G>A (p.Met22899Ile)
c.58551G>A (p.Met19517Ile)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched