Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched