Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178614638C>ACA349607618TTN,TTN-AS1c.41172G>T (p.Trp13724Cys)
c.22257G>T (p.Trp7419Cys)
c.22056G>T (p.Trp7352Cys)
c.21681G>T (p.Trp7227Cys)
c.48876G>T (p.Trp16292Cys)
c.43953G>T (p.Trp14651Cys)
n.1386C>A
c.47973G>T (p.Trp15991Cys)
c.21867G>T (p.Trp7289Cys)
c.21726G>T (p.Trp7242Cys)
c.47769G>T (p.Trp15923Cys)
c.43167G>T (p.Trp14389Cys)
c.43164G>T (p.Trp14388Cys)
c.40206G>T (p.Trp13402Cys)
c.21822G>T (p.Trp7274Cys)
c.43317G>T (p.Trp14439Cys)
c.43314G>T (p.Trp14438Cys)
c.42747G>T (p.Trp14249Cys)
c.40089G>T (p.Trp13363Cys)
c.40008G>T (p.Trp13336Cys)
c.21771G>T (p.Trp7257Cys)
c.11625G>T (p.Trp3875Cys)
2g.178614638C>GCA349607619TTN,TTN-AS1c.41172G>C (p.Trp13724Cys)
c.22257G>C (p.Trp7419Cys)
c.22056G>C (p.Trp7352Cys)
c.21681G>C (p.Trp7227Cys)
c.48876G>C (p.Trp16292Cys)
c.43953G>C (p.Trp14651Cys)
n.1386C>G
c.47973G>C (p.Trp15991Cys)
c.21867G>C (p.Trp7289Cys)
c.21726G>C (p.Trp7242Cys)
c.47769G>C (p.Trp15923Cys)
c.43167G>C (p.Trp14389Cys)
c.43164G>C (p.Trp14388Cys)
c.40206G>C (p.Trp13402Cys)
c.21822G>C (p.Trp7274Cys)
c.43317G>C (p.Trp14439Cys)
c.43314G>C (p.Trp14438Cys)
c.42747G>C (p.Trp14249Cys)
c.40089G>C (p.Trp13363Cys)
c.40008G>C (p.Trp13336Cys)
c.21771G>C (p.Trp7257Cys)
c.11625G>C (p.Trp3875Cys)
2g.178614638C>TCA349607621TTN,TTN-AS1c.41172G>A (p.Trp13724Ter)
c.22257G>A (p.Trp7419Ter)
c.22056G>A (p.Trp7352Ter)
c.21681G>A (p.Trp7227Ter)
c.48876G>A (p.Trp16292Ter)
c.43953G>A (p.Trp14651Ter)
n.1386C>T
c.47973G>A (p.Trp15991Ter)
c.21867G>A (p.Trp7289Ter)
c.21726G>A (p.Trp7242Ter)
c.47769G>A (p.Trp15923Ter)
c.43167G>A (p.Trp14389Ter)
c.43164G>A (p.Trp14388Ter)
c.40206G>A (p.Trp13402Ter)
c.21822G>A (p.Trp7274Ter)
c.43317G>A (p.Trp14439Ter)
c.43314G>A (p.Trp14438Ter)
c.42747G>A (p.Trp14249Ter)
c.40089G>A (p.Trp13363Ter)
c.40008G>A (p.Trp13336Ter)
c.21771G>A (p.Trp7257Ter)
c.11625G>A (p.Trp3875Ter)
2g.178614639C>ACA349607623TTN,TTN-AS1c.41171G>T (p.Trp13724Leu)
c.22256G>T (p.Trp7419Leu)
c.22055G>T (p.Trp7352Leu)
c.21680G>T (p.Trp7227Leu)
c.48875G>T (p.Trp16292Leu)
c.43952G>T (p.Trp14651Leu)
n.1387C>A
c.47972G>T (p.Trp15991Leu)
c.21866G>T (p.Trp7289Leu)
c.21725G>T (p.Trp7242Leu)
c.47768G>T (p.Trp15923Leu)
c.43166G>T (p.Trp14389Leu)
c.43163G>T (p.Trp14388Leu)
c.40205G>T (p.Trp13402Leu)
c.21821G>T (p.Trp7274Leu)
c.43316G>T (p.Trp14439Leu)
c.43313G>T (p.Trp14438Leu)
c.42746G>T (p.Trp14249Leu)
c.40088G>T (p.Trp13363Leu)
c.40007G>T (p.Trp13336Leu)
c.21770G>T (p.Trp7257Leu)
c.11624G>T (p.Trp3875Leu)
2g.178614639C>GCA349607625TTN,TTN-AS1c.41171G>C (p.Trp13724Ser)
c.22256G>C (p.Trp7419Ser)
c.22055G>C (p.Trp7352Ser)
c.21680G>C (p.Trp7227Ser)
c.48875G>C (p.Trp16292Ser)
c.43952G>C (p.Trp14651Ser)
n.1387C>G
c.47972G>C (p.Trp15991Ser)
c.21866G>C (p.Trp7289Ser)
c.21725G>C (p.Trp7242Ser)
c.47768G>C (p.Trp15923Ser)
c.43166G>C (p.Trp14389Ser)
c.43163G>C (p.Trp14388Ser)
c.40205G>C (p.Trp13402Ser)
c.21821G>C (p.Trp7274Ser)
c.43316G>C (p.Trp14439Ser)
c.43313G>C (p.Trp14438Ser)
c.42746G>C (p.Trp14249Ser)
c.40088G>C (p.Trp13363Ser)
c.40007G>C (p.Trp13336Ser)
c.21770G>C (p.Trp7257Ser)
c.11624G>C (p.Trp3875Ser)
2g.178614639C>TCA349607627TTN,TTN-AS1c.41171G>A (p.Trp13724Ter)
c.22256G>A (p.Trp7419Ter)
c.22055G>A (p.Trp7352Ter)
c.21680G>A (p.Trp7227Ter)
c.48875G>A (p.Trp16292Ter)
c.43952G>A (p.Trp14651Ter)
n.1387C>T
c.47972G>A (p.Trp15991Ter)
c.21866G>A (p.Trp7289Ter)
c.21725G>A (p.Trp7242Ter)
c.47768G>A (p.Trp15923Ter)
c.43166G>A (p.Trp14389Ter)
c.43163G>A (p.Trp14388Ter)
c.40205G>A (p.Trp13402Ter)
c.21821G>A (p.Trp7274Ter)
c.43316G>A (p.Trp14439Ter)
c.43313G>A (p.Trp14438Ter)
c.42746G>A (p.Trp14249Ter)
c.40088G>A (p.Trp13363Ter)
c.40007G>A (p.Trp13336Ter)
c.21770G>A (p.Trp7257Ter)
c.11624G>A (p.Trp3875Ter)
 gnomAD v4
2g.178614640A>CCA349607630TTN,TTN-AS1c.41170T>G (p.Trp13724Gly)
c.22255T>G (p.Trp7419Gly)
c.22054T>G (p.Trp7352Gly)
c.21679T>G (p.Trp7227Gly)
c.48874T>G (p.Trp16292Gly)
c.43951T>G (p.Trp14651Gly)
n.1388A>C
c.47971T>G (p.Trp15991Gly)
c.21865T>G (p.Trp7289Gly)
c.21724T>G (p.Trp7242Gly)
c.47767T>G (p.Trp15923Gly)
c.43165T>G (p.Trp14389Gly)
c.43162T>G (p.Trp14388Gly)
c.40204T>G (p.Trp13402Gly)
c.21820T>G (p.Trp7274Gly)
c.43315T>G (p.Trp14439Gly)
c.43312T>G (p.Trp14438Gly)
c.42745T>G (p.Trp14249Gly)
c.40087T>G (p.Trp13363Gly)
c.40006T>G (p.Trp13336Gly)
c.21769T>G (p.Trp7257Gly)
c.11623T>G (p.Trp3875Gly)
2g.178614640A>GCA349607631TTN,TTN-AS1c.41170T>C (p.Trp13724Arg)
c.22255T>C (p.Trp7419Arg)
c.22054T>C (p.Trp7352Arg)
c.21679T>C (p.Trp7227Arg)
c.48874T>C (p.Trp16292Arg)
c.43951T>C (p.Trp14651Arg)
n.1388A>G
c.47971T>C (p.Trp15991Arg)
c.21865T>C (p.Trp7289Arg)
c.21724T>C (p.Trp7242Arg)
c.47767T>C (p.Trp15923Arg)
c.43165T>C (p.Trp14389Arg)
c.43162T>C (p.Trp14388Arg)
c.40204T>C (p.Trp13402Arg)
c.21820T>C (p.Trp7274Arg)
c.43315T>C (p.Trp14439Arg)
c.43312T>C (p.Trp14438Arg)
c.42745T>C (p.Trp14249Arg)
c.40087T>C (p.Trp13363Arg)
c.40006T>C (p.Trp13336Arg)
c.21769T>C (p.Trp7257Arg)
c.11623T>C (p.Trp3875Arg)
2g.178614640A>TCA349607634TTN,TTN-AS1c.41170T>A (p.Trp13724Arg)
c.22255T>A (p.Trp7419Arg)
c.22054T>A (p.Trp7352Arg)
c.21679T>A (p.Trp7227Arg)
c.48874T>A (p.Trp16292Arg)
c.43951T>A (p.Trp14651Arg)
n.1388A>T
c.47971T>A (p.Trp15991Arg)
c.21865T>A (p.Trp7289Arg)
c.21724T>A (p.Trp7242Arg)
c.47767T>A (p.Trp15923Arg)
c.43165T>A (p.Trp14389Arg)
c.43162T>A (p.Trp14388Arg)
c.40204T>A (p.Trp13402Arg)
c.21820T>A (p.Trp7274Arg)
c.43315T>A (p.Trp14439Arg)
c.43312T>A (p.Trp14438Arg)
c.42745T>A (p.Trp14249Arg)
c.40087T>A (p.Trp13363Arg)
c.40006T>A (p.Trp13336Arg)
c.21769T>A (p.Trp7257Arg)
c.11623T>A (p.Trp3875Arg)
2g.178614641A>CCA430273830TTN,TTN-AS1c.41169T>G (p.Thr13723=)
c.22254T>G (p.Thr7418=)
c.22053T>G (p.Thr7351=)
c.21678T>G (p.Thr7226=)
c.48873T>G (p.Thr16291=)
c.43950T>G (p.Thr14650=)
n.1389A>C
c.47970T>G (p.Thr15990=)
c.21864T>G (p.Thr7288=)
c.21723T>G (p.Thr7241=)
c.47766T>G (p.Thr15922=)
c.43164T>G (p.Thr14388=)
c.43161T>G (p.Thr14387=)
c.40203T>G (p.Thr13401=)
c.21819T>G (p.Thr7273=)
c.43314T>G (p.Thr14438=)
c.43311T>G (p.Thr14437=)
c.42744T>G (p.Thr14248=)
c.40086T>G (p.Thr13362=)
c.40005T>G (p.Thr13335=)
c.21768T>G (p.Thr7256=)
c.11622T>G (p.Thr3874=)
2g.178614641A>GCA430273831TTN,TTN-AS1c.41169T>C (p.Thr13723=)
c.22254T>C (p.Thr7418=)
c.22053T>C (p.Thr7351=)
c.21678T>C (p.Thr7226=)
c.48873T>C (p.Thr16291=)
c.43950T>C (p.Thr14650=)
n.1389A>G
c.47970T>C (p.Thr15990=)
c.21864T>C (p.Thr7288=)
c.21723T>C (p.Thr7241=)
c.47766T>C (p.Thr15922=)
c.43164T>C (p.Thr14388=)
c.43161T>C (p.Thr14387=)
c.40203T>C (p.Thr13401=)
c.21819T>C (p.Thr7273=)
c.43314T>C (p.Thr14438=)
c.43311T>C (p.Thr14437=)
c.42744T>C (p.Thr14248=)
c.40086T>C (p.Thr13362=)
c.40005T>C (p.Thr13335=)
c.21768T>C (p.Thr7256=)
c.11622T>C (p.Thr3874=)
2g.178614641A>TCA430273835TTN,TTN-AS1c.41169T>A (p.Thr13723=)
c.22254T>A (p.Thr7418=)
c.22053T>A (p.Thr7351=)
c.21678T>A (p.Thr7226=)
c.48873T>A (p.Thr16291=)
c.43950T>A (p.Thr14650=)
n.1389A>T
c.47970T>A (p.Thr15990=)
c.21864T>A (p.Thr7288=)
c.21723T>A (p.Thr7241=)
c.47766T>A (p.Thr15922=)
c.43164T>A (p.Thr14388=)
c.43161T>A (p.Thr14387=)
c.40203T>A (p.Thr13401=)
c.21819T>A (p.Thr7273=)
c.43314T>A (p.Thr14438=)
c.43311T>A (p.Thr14437=)
c.42744T>A (p.Thr14248=)
c.40086T>A (p.Thr13362=)
c.40005T>A (p.Thr13335=)
c.21768T>A (p.Thr7256=)
c.11622T>A (p.Thr3874=)
2g.178614642G>ACA349607636TTN,TTN-AS1c.41168C>T (p.Thr13723Ile)
c.22253C>T (p.Thr7418Ile)
c.22052C>T (p.Thr7351Ile)
c.21677C>T (p.Thr7226Ile)
c.48872C>T (p.Thr16291Ile)
c.43949C>T (p.Thr14650Ile)
n.1390G>A
c.47969C>T (p.Thr15990Ile)
c.21863C>T (p.Thr7288Ile)
c.21722C>T (p.Thr7241Ile)
c.47765C>T (p.Thr15922Ile)
c.43163C>T (p.Thr14388Ile)
c.43160C>T (p.Thr14387Ile)
c.40202C>T (p.Thr13401Ile)
c.21818C>T (p.Thr7273Ile)
c.43313C>T (p.Thr14438Ile)
c.43310C>T (p.Thr14437Ile)
c.42743C>T (p.Thr14248Ile)
c.40085C>T (p.Thr13362Ile)
c.40004C>T (p.Thr13335Ile)
c.21767C>T (p.Thr7256Ile)
c.11621C>T (p.Thr3874Ile)
 ClinVar
2g.178614642G>CCA349607638TTN,TTN-AS1c.41168C>G (p.Thr13723Ser)
c.22253C>G (p.Thr7418Ser)
c.22052C>G (p.Thr7351Ser)
c.21677C>G (p.Thr7226Ser)
c.48872C>G (p.Thr16291Ser)
c.43949C>G (p.Thr14650Ser)
n.1390G>C
c.47969C>G (p.Thr15990Ser)
c.21863C>G (p.Thr7288Ser)
c.21722C>G (p.Thr7241Ser)
c.47765C>G (p.Thr15922Ser)
c.43163C>G (p.Thr14388Ser)
c.43160C>G (p.Thr14387Ser)
c.40202C>G (p.Thr13401Ser)
c.21818C>G (p.Thr7273Ser)
c.43313C>G (p.Thr14438Ser)
c.43310C>G (p.Thr14437Ser)
c.42743C>G (p.Thr14248Ser)
c.40085C>G (p.Thr13362Ser)
c.40004C>G (p.Thr13335Ser)
c.21767C>G (p.Thr7256Ser)
c.11621C>G (p.Thr3874Ser)
2g.178614642G>TCA349607640TTN,TTN-AS1c.41168C>A (p.Thr13723Asn)
c.22253C>A (p.Thr7418Asn)
c.22052C>A (p.Thr7351Asn)
c.21677C>A (p.Thr7226Asn)
c.48872C>A (p.Thr16291Asn)
c.43949C>A (p.Thr14650Asn)
n.1390G>T
c.47969C>A (p.Thr15990Asn)
c.21863C>A (p.Thr7288Asn)
c.21722C>A (p.Thr7241Asn)
c.47765C>A (p.Thr15922Asn)
c.43163C>A (p.Thr14388Asn)
c.43160C>A (p.Thr14387Asn)
c.40202C>A (p.Thr13401Asn)
c.21818C>A (p.Thr7273Asn)
c.43313C>A (p.Thr14438Asn)
c.43310C>A (p.Thr14437Asn)
c.42743C>A (p.Thr14248Asn)
c.40085C>A (p.Thr13362Asn)
c.40004C>A (p.Thr13335Asn)
c.21767C>A (p.Thr7256Asn)
c.11621C>A (p.Thr3874Asn)
2g.178614643T>ACA349607644TTN,TTN-AS1c.41167A>T (p.Thr13723Ser)
c.22252A>T (p.Thr7418Ser)
c.22051A>T (p.Thr7351Ser)
c.21676A>T (p.Thr7226Ser)
c.48871A>T (p.Thr16291Ser)
c.43948A>T (p.Thr14650Ser)
n.1391T>A
c.47968A>T (p.Thr15990Ser)
c.21862A>T (p.Thr7288Ser)
c.21721A>T (p.Thr7241Ser)
c.47764A>T (p.Thr15922Ser)
c.43162A>T (p.Thr14388Ser)
c.43159A>T (p.Thr14387Ser)
c.40201A>T (p.Thr13401Ser)
c.21817A>T (p.Thr7273Ser)
c.43312A>T (p.Thr14438Ser)
c.43309A>T (p.Thr14437Ser)
c.42742A>T (p.Thr14248Ser)
c.40084A>T (p.Thr13362Ser)
c.40003A>T (p.Thr13335Ser)
c.21766A>T (p.Thr7256Ser)
c.11620A>T (p.Thr3874Ser)
2g.178614643T>CCA349607642TTN,TTN-AS1c.41167A>G (p.Thr13723Ala)
c.22252A>G (p.Thr7418Ala)
c.22051A>G (p.Thr7351Ala)
c.21676A>G (p.Thr7226Ala)
c.48871A>G (p.Thr16291Ala)
c.43948A>G (p.Thr14650Ala)
n.1391T>C
c.47968A>G (p.Thr15990Ala)
c.21862A>G (p.Thr7288Ala)
c.21721A>G (p.Thr7241Ala)
c.47764A>G (p.Thr15922Ala)
c.43162A>G (p.Thr14388Ala)
c.43159A>G (p.Thr14387Ala)
c.40201A>G (p.Thr13401Ala)
c.21817A>G (p.Thr7273Ala)
c.43312A>G (p.Thr14438Ala)
c.43309A>G (p.Thr14437Ala)
c.42742A>G (p.Thr14248Ala)
c.40084A>G (p.Thr13362Ala)
c.40003A>G (p.Thr13335Ala)
c.21766A>G (p.Thr7256Ala)
c.11620A>G (p.Thr3874Ala)
2g.178614643T>GCA349607641TTN,TTN-AS1c.41167A>C (p.Thr13723Pro)
c.22252A>C (p.Thr7418Pro)
c.22051A>C (p.Thr7351Pro)
c.21676A>C (p.Thr7226Pro)
c.48871A>C (p.Thr16291Pro)
c.43948A>C (p.Thr14650Pro)
n.1391T>G
c.47968A>C (p.Thr15990Pro)
c.21862A>C (p.Thr7288Pro)
c.21721A>C (p.Thr7241Pro)
c.47764A>C (p.Thr15922Pro)
c.43162A>C (p.Thr14388Pro)
c.43159A>C (p.Thr14387Pro)
c.40201A>C (p.Thr13401Pro)
c.21817A>C (p.Thr7273Pro)
c.43312A>C (p.Thr14438Pro)
c.43309A>C (p.Thr14437Pro)
c.42742A>C (p.Thr14248Pro)
c.40084A>C (p.Thr13362Pro)
c.40003A>C (p.Thr13335Pro)
c.21766A>C (p.Thr7256Pro)
c.11620A>C (p.Thr3874Pro)
2g.178614644T>ACA430273844TTN,TTN-AS1c.41166A>T (p.Ile13722=)
c.22251A>T (p.Ile7417=)
c.22050A>T (p.Ile7350=)
c.21675A>T (p.Ile7225=)
c.48870A>T (p.Ile16290=)
c.43947A>T (p.Ile14649=)
n.1392T>A
c.47967A>T (p.Ile15989=)
c.21861A>T (p.Ile7287=)
c.21720A>T (p.Ile7240=)
c.47763A>T (p.Ile15921=)
c.43161A>T (p.Ile14387=)
c.43158A>T (p.Ile14386=)
c.40200A>T (p.Ile13400=)
c.21816A>T (p.Ile7272=)
c.43311A>T (p.Ile14437=)
c.43308A>T (p.Ile14436=)
c.42741A>T (p.Ile14247=)
c.40083A>T (p.Ile13361=)
c.40002A>T (p.Ile13334=)
c.21765A>T (p.Ile7255=)
c.11619A>T (p.Ile3873=)
2g.178614644T>CCA349607646TTN,TTN-AS1c.41166A>G (p.Ile13722Met)
c.22251A>G (p.Ile7417Met)
c.22050A>G (p.Ile7350Met)
c.21675A>G (p.Ile7225Met)
c.48870A>G (p.Ile16290Met)
c.43947A>G (p.Ile14649Met)
n.1392T>C
c.47967A>G (p.Ile15989Met)
c.21861A>G (p.Ile7287Met)
c.21720A>G (p.Ile7240Met)
c.47763A>G (p.Ile15921Met)
c.43161A>G (p.Ile14387Met)
c.43158A>G (p.Ile14386Met)
c.40200A>G (p.Ile13400Met)
c.21816A>G (p.Ile7272Met)
c.43311A>G (p.Ile14437Met)
c.43308A>G (p.Ile14436Met)
c.42741A>G (p.Ile14247Met)
c.40083A>G (p.Ile13361Met)
c.40002A>G (p.Ile13334Met)
c.21765A>G (p.Ile7255Met)
c.11619A>G (p.Ile3873Met)
2g.178614644T>GCA430273854TTN,TTN-AS1c.41166A>C (p.Ile13722=)
c.22251A>C (p.Ile7417=)
c.22050A>C (p.Ile7350=)
c.21675A>C (p.Ile7225=)
c.48870A>C (p.Ile16290=)
c.43947A>C (p.Ile14649=)
n.1392T>G
c.47967A>C (p.Ile15989=)
c.21861A>C (p.Ile7287=)
c.21720A>C (p.Ile7240=)
c.47763A>C (p.Ile15921=)
c.43161A>C (p.Ile14387=)
c.43158A>C (p.Ile14386=)
c.40200A>C (p.Ile13400=)
c.21816A>C (p.Ile7272=)
c.43311A>C (p.Ile14437=)
c.43308A>C (p.Ile14436=)
c.42741A>C (p.Ile14247=)
c.40083A>C (p.Ile13361=)
c.40002A>C (p.Ile13334=)
c.21765A>C (p.Ile7255=)
c.11619A>C (p.Ile3873=)
2g.178614645A>CCA349607649TTN,TTN-AS1c.41165T>G (p.Ile13722Arg)
c.22250T>G (p.Ile7417Arg)
c.22049T>G (p.Ile7350Arg)
c.21674T>G (p.Ile7225Arg)
c.48869T>G (p.Ile16290Arg)
c.43946T>G (p.Ile14649Arg)
n.1393A>C
c.47966T>G (p.Ile15989Arg)
c.21860T>G (p.Ile7287Arg)
c.21719T>G (p.Ile7240Arg)
c.47762T>G (p.Ile15921Arg)
c.43160T>G (p.Ile14387Arg)
c.43157T>G (p.Ile14386Arg)
c.40199T>G (p.Ile13400Arg)
c.21815T>G (p.Ile7272Arg)
c.43310T>G (p.Ile14437Arg)
c.43307T>G (p.Ile14436Arg)
c.42740T>G (p.Ile14247Arg)
c.40082T>G (p.Ile13361Arg)
c.40001T>G (p.Ile13334Arg)
c.21764T>G (p.Ile7255Arg)
c.11618T>G (p.Ile3873Arg)
2g.178614645A>GCA349607650TTN,TTN-AS1c.41165T>C (p.Ile13722Thr)
c.22250T>C (p.Ile7417Thr)
c.22049T>C (p.Ile7350Thr)
c.21674T>C (p.Ile7225Thr)
c.48869T>C (p.Ile16290Thr)
c.43946T>C (p.Ile14649Thr)
n.1393A>G
c.47966T>C (p.Ile15989Thr)
c.21860T>C (p.Ile7287Thr)
c.21719T>C (p.Ile7240Thr)
c.47762T>C (p.Ile15921Thr)
c.43160T>C (p.Ile14387Thr)
c.43157T>C (p.Ile14386Thr)
c.40199T>C (p.Ile13400Thr)
c.21815T>C (p.Ile7272Thr)
c.43310T>C (p.Ile14437Thr)
c.43307T>C (p.Ile14436Thr)
c.42740T>C (p.Ile14247Thr)
c.40082T>C (p.Ile13361Thr)
c.40001T>C (p.Ile13334Thr)
c.21764T>C (p.Ile7255Thr)
c.11618T>C (p.Ile3873Thr)
 COSMIC COSMIC COSMIC COSMIC
2g.178614645A>TCA349607652TTN,TTN-AS1c.41165T>A (p.Ile13722Lys)
c.22250T>A (p.Ile7417Lys)
c.22049T>A (p.Ile7350Lys)
c.21674T>A (p.Ile7225Lys)
c.48869T>A (p.Ile16290Lys)
c.43946T>A (p.Ile14649Lys)
n.1393A>T
c.47966T>A (p.Ile15989Lys)
c.21860T>A (p.Ile7287Lys)
c.21719T>A (p.Ile7240Lys)
c.47762T>A (p.Ile15921Lys)
c.43160T>A (p.Ile14387Lys)
c.43157T>A (p.Ile14386Lys)
c.40199T>A (p.Ile13400Lys)
c.21815T>A (p.Ile7272Lys)
c.43310T>A (p.Ile14437Lys)
c.43307T>A (p.Ile14436Lys)
c.42740T>A (p.Ile14247Lys)
c.40082T>A (p.Ile13361Lys)
c.40001T>A (p.Ile13334Lys)
c.21764T>A (p.Ile7255Lys)
c.11618T>A (p.Ile3873Lys)
2g.178614646T>ACA349607655TTN,TTN-AS1c.41164A>T (p.Ile13722Leu)
c.22249A>T (p.Ile7417Leu)
c.22048A>T (p.Ile7350Leu)
c.21673A>T (p.Ile7225Leu)
c.48868A>T (p.Ile16290Leu)
c.43945A>T (p.Ile14649Leu)
n.1394T>A
c.47965A>T (p.Ile15989Leu)
c.21859A>T (p.Ile7287Leu)
c.21718A>T (p.Ile7240Leu)
c.47761A>T (p.Ile15921Leu)
c.43159A>T (p.Ile14387Leu)
c.43156A>T (p.Ile14386Leu)
c.40198A>T (p.Ile13400Leu)
c.21814A>T (p.Ile7272Leu)
c.43309A>T (p.Ile14437Leu)
c.43306A>T (p.Ile14436Leu)
c.42739A>T (p.Ile14247Leu)
c.40081A>T (p.Ile13361Leu)
c.40000A>T (p.Ile13334Leu)
c.21763A>T (p.Ile7255Leu)
c.11617A>T (p.Ile3873Leu)
2g.178614646T>CCA1994730TTN,TTN-AS1c.41164A>G (p.Ile13722Val)
c.22249A>G (p.Ile7417Val)
c.22048A>G (p.Ile7350Val)
c.21673A>G (p.Ile7225Val)
c.48868A>G (p.Ile16290Val)
c.43945A>G (p.Ile14649Val)
n.1394T>C
c.47965A>G (p.Ile15989Val)
c.21859A>G (p.Ile7287Val)
c.21718A>G (p.Ile7240Val)
c.47761A>G (p.Ile15921Val)
c.43159A>G (p.Ile14387Val)
c.43156A>G (p.Ile14386Val)
c.40198A>G (p.Ile13400Val)
c.21814A>G (p.Ile7272Val)
c.43309A>G (p.Ile14437Val)
c.43306A>G (p.Ile14436Val)
c.42739A>G (p.Ile14247Val)
c.40081A>G (p.Ile13361Val)
c.40000A>G (p.Ile13334Val)
c.21763A>G (p.Ile7255Val)
c.11617A>G (p.Ile3873Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178614646T>GCA349607657TTN,TTN-AS1c.41164A>C (p.Ile13722Leu)
c.22249A>C (p.Ile7417Leu)
c.22048A>C (p.Ile7350Leu)
c.21673A>C (p.Ile7225Leu)
c.48868A>C (p.Ile16290Leu)
c.43945A>C (p.Ile14649Leu)
n.1394T>G
c.47965A>C (p.Ile15989Leu)
c.21859A>C (p.Ile7287Leu)
c.21718A>C (p.Ile7240Leu)
c.47761A>C (p.Ile15921Leu)
c.43159A>C (p.Ile14387Leu)
c.43156A>C (p.Ile14386Leu)
c.40198A>C (p.Ile13400Leu)
c.21814A>C (p.Ile7272Leu)
c.43309A>C (p.Ile14437Leu)
c.43306A>C (p.Ile14436Leu)
c.42739A>C (p.Ile14247Leu)
c.40081A>C (p.Ile13361Leu)
c.40000A>C (p.Ile13334Leu)
c.21763A>C (p.Ile7255Leu)
c.11617A>C (p.Ile3873Leu)
2g.178614646T=CA1310549452TTN,TTN-AS1c.41164A= (p.Ile13722=)
c.22249A= (p.Ile7417=)
c.22048A= (p.Ile7350=)
c.21673A= (p.Ile7225=)
c.48868A= (p.Ile16290=)
c.43945A= (p.Ile14649=)
n.1394T=
c.47965A= (p.Ile15989=)
c.21859A= (p.Ile7287=)
c.21718A= (p.Ile7240=)
c.47761A= (p.Ile15921=)
c.43159A= (p.Ile14387=)
c.43156A= (p.Ile14386=)
c.40198A= (p.Ile13400=)
c.21814A= (p.Ile7272=)
c.43309A= (p.Ile14437=)
c.43306A= (p.Ile14436=)
c.42739A= (p.Ile14247=)
c.40081A= (p.Ile13361=)
c.40000A= (p.Ile13334=)
c.21763A= (p.Ile7255=)
c.11617A= (p.Ile3873=)
2g.178614647T>ACA349607660TTN,TTN-AS1c.41163A>T (p.Lys13721Asn)
c.22248A>T (p.Lys7416Asn)
c.22047A>T (p.Lys7349Asn)
c.21672A>T (p.Lys7224Asn)
c.48867A>T (p.Lys16289Asn)
c.43944A>T (p.Lys14648Asn)
n.1395T>A
c.47964A>T (p.Lys15988Asn)
c.21858A>T (p.Lys7286Asn)
c.21717A>T (p.Lys7239Asn)
c.47760A>T (p.Lys15920Asn)
c.43158A>T (p.Lys14386Asn)
c.43155A>T (p.Lys14385Asn)
c.40197A>T (p.Lys13399Asn)
c.21813A>T (p.Lys7271Asn)
c.43308A>T (p.Lys14436Asn)
c.43305A>T (p.Lys14435Asn)
c.42738A>T (p.Lys14246Asn)
c.40080A>T (p.Lys13360Asn)
c.39999A>T (p.Lys13333Asn)
c.21762A>T (p.Lys7254Asn)
c.11616A>T (p.Lys3872Asn)
2g.178614647T>CCA430273859TTN,TTN-AS1c.41163A>G (p.Lys13721=)
c.22248A>G (p.Lys7416=)
c.22047A>G (p.Lys7349=)
c.21672A>G (p.Lys7224=)
c.48867A>G (p.Lys16289=)
c.43944A>G (p.Lys14648=)
n.1395T>C
c.47964A>G (p.Lys15988=)
c.21858A>G (p.Lys7286=)
c.21717A>G (p.Lys7239=)
c.47760A>G (p.Lys15920=)
c.43158A>G (p.Lys14386=)
c.43155A>G (p.Lys14385=)
c.40197A>G (p.Lys13399=)
c.21813A>G (p.Lys7271=)
c.43308A>G (p.Lys14436=)
c.43305A>G (p.Lys14435=)
c.42738A>G (p.Lys14246=)
c.40080A>G (p.Lys13360=)
c.39999A>G (p.Lys13333=)
c.21762A>G (p.Lys7254=)
c.11616A>G (p.Lys3872=)
2g.178614647T>GCA349607662TTN,TTN-AS1c.41163A>C (p.Lys13721Asn)
c.22248A>C (p.Lys7416Asn)
c.22047A>C (p.Lys7349Asn)
c.21672A>C (p.Lys7224Asn)
c.48867A>C (p.Lys16289Asn)
c.43944A>C (p.Lys14648Asn)
n.1395T>G
c.47964A>C (p.Lys15988Asn)
c.21858A>C (p.Lys7286Asn)
c.21717A>C (p.Lys7239Asn)
c.47760A>C (p.Lys15920Asn)
c.43158A>C (p.Lys14386Asn)
c.43155A>C (p.Lys14385Asn)
c.40197A>C (p.Lys13399Asn)
c.21813A>C (p.Lys7271Asn)
c.43308A>C (p.Lys14436Asn)
c.43305A>C (p.Lys14435Asn)
c.42738A>C (p.Lys14246Asn)
c.40080A>C (p.Lys13360Asn)
c.39999A>C (p.Lys13333Asn)
c.21762A>C (p.Lys7254Asn)
c.11616A>C (p.Lys3872Asn)
2g.178614648T>ACA349607664TTN,TTN-AS1c.41162A>T (p.Lys13721Ile)
c.22247A>T (p.Lys7416Ile)
c.22046A>T (p.Lys7349Ile)
c.21671A>T (p.Lys7224Ile)
c.48866A>T (p.Lys16289Ile)
c.43943A>T (p.Lys14648Ile)
n.1396T>A
c.47963A>T (p.Lys15988Ile)
c.21857A>T (p.Lys7286Ile)
c.21716A>T (p.Lys7239Ile)
c.47759A>T (p.Lys15920Ile)
c.43157A>T (p.Lys14386Ile)
c.43154A>T (p.Lys14385Ile)
c.40196A>T (p.Lys13399Ile)
c.21812A>T (p.Lys7271Ile)
c.43307A>T (p.Lys14436Ile)
c.43304A>T (p.Lys14435Ile)
c.42737A>T (p.Lys14246Ile)
c.40079A>T (p.Lys13360Ile)
c.39998A>T (p.Lys13333Ile)
c.21761A>T (p.Lys7254Ile)
c.11615A>T (p.Lys3872Ile)
2g.178614648T>CCA349607666TTN,TTN-AS1c.41162A>G (p.Lys13721Arg)
c.22247A>G (p.Lys7416Arg)
c.22046A>G (p.Lys7349Arg)
c.21671A>G (p.Lys7224Arg)
c.48866A>G (p.Lys16289Arg)
c.43943A>G (p.Lys14648Arg)
n.1396T>C
c.47963A>G (p.Lys15988Arg)
c.21857A>G (p.Lys7286Arg)
c.21716A>G (p.Lys7239Arg)
c.47759A>G (p.Lys15920Arg)
c.43157A>G (p.Lys14386Arg)
c.43154A>G (p.Lys14385Arg)
c.40196A>G (p.Lys13399Arg)
c.21812A>G (p.Lys7271Arg)
c.43307A>G (p.Lys14436Arg)
c.43304A>G (p.Lys14435Arg)
c.42737A>G (p.Lys14246Arg)
c.40079A>G (p.Lys13360Arg)
c.39998A>G (p.Lys13333Arg)
c.21761A>G (p.Lys7254Arg)
c.11615A>G (p.Lys3872Arg)
2g.178614648T>GCA349607668TTN,TTN-AS1c.41162A>C (p.Lys13721Thr)
c.22247A>C (p.Lys7416Thr)
c.22046A>C (p.Lys7349Thr)
c.21671A>C (p.Lys7224Thr)
c.48866A>C (p.Lys16289Thr)
c.43943A>C (p.Lys14648Thr)
n.1396T>G
c.47963A>C (p.Lys15988Thr)
c.21857A>C (p.Lys7286Thr)
c.21716A>C (p.Lys7239Thr)
c.47759A>C (p.Lys15920Thr)
c.43157A>C (p.Lys14386Thr)
c.43154A>C (p.Lys14385Thr)
c.40196A>C (p.Lys13399Thr)
c.21812A>C (p.Lys7271Thr)
c.43307A>C (p.Lys14436Thr)
c.43304A>C (p.Lys14435Thr)
c.42737A>C (p.Lys14246Thr)
c.40079A>C (p.Lys13360Thr)
c.39998A>C (p.Lys13333Thr)
c.21761A>C (p.Lys7254Thr)
c.11615A>C (p.Lys3872Thr)
 gnomAD v4
2g.178614649T>ACA349607674TTN,TTN-AS1c.41161A>T (p.Lys13721Ter)
c.22246A>T (p.Lys7416Ter)
c.22045A>T (p.Lys7349Ter)
c.21670A>T (p.Lys7224Ter)
c.48865A>T (p.Lys16289Ter)
c.43942A>T (p.Lys14648Ter)
n.1397T>A
c.47962A>T (p.Lys15988Ter)
c.21856A>T (p.Lys7286Ter)
c.21715A>T (p.Lys7239Ter)
c.47758A>T (p.Lys15920Ter)
c.43156A>T (p.Lys14386Ter)
c.43153A>T (p.Lys14385Ter)
c.40195A>T (p.Lys13399Ter)
c.21811A>T (p.Lys7271Ter)
c.43306A>T (p.Lys14436Ter)
c.43303A>T (p.Lys14435Ter)
c.42736A>T (p.Lys14246Ter)
c.40078A>T (p.Lys13360Ter)
c.39997A>T (p.Lys13333Ter)
c.21760A>T (p.Lys7254Ter)
c.11614A>T (p.Lys3872Ter)
2g.178614649T>CCA349607672TTN,TTN-AS1c.41161A>G (p.Lys13721Glu)
c.22246A>G (p.Lys7416Glu)
c.22045A>G (p.Lys7349Glu)
c.21670A>G (p.Lys7224Glu)
c.48865A>G (p.Lys16289Glu)
c.43942A>G (p.Lys14648Glu)
n.1397T>C
c.47962A>G (p.Lys15988Glu)
c.21856A>G (p.Lys7286Glu)
c.21715A>G (p.Lys7239Glu)
c.47758A>G (p.Lys15920Glu)
c.43156A>G (p.Lys14386Glu)
c.43153A>G (p.Lys14385Glu)
c.40195A>G (p.Lys13399Glu)
c.21811A>G (p.Lys7271Glu)
c.43306A>G (p.Lys14436Glu)
c.43303A>G (p.Lys14435Glu)
c.42736A>G (p.Lys14246Glu)
c.40078A>G (p.Lys13360Glu)
c.39997A>G (p.Lys13333Glu)
c.21760A>G (p.Lys7254Glu)
c.11614A>G (p.Lys3872Glu)
 dbSNP
2g.178614649T>GCA349607670TTN,TTN-AS1c.41161A>C (p.Lys13721Gln)
c.22246A>C (p.Lys7416Gln)
c.22045A>C (p.Lys7349Gln)
c.21670A>C (p.Lys7224Gln)
c.48865A>C (p.Lys16289Gln)
c.43942A>C (p.Lys14648Gln)
n.1397T>G
c.47962A>C (p.Lys15988Gln)
c.21856A>C (p.Lys7286Gln)
c.21715A>C (p.Lys7239Gln)
c.47758A>C (p.Lys15920Gln)
c.43156A>C (p.Lys14386Gln)
c.43153A>C (p.Lys14385Gln)
c.40195A>C (p.Lys13399Gln)
c.21811A>C (p.Lys7271Gln)
c.43306A>C (p.Lys14436Gln)
c.43303A>C (p.Lys14435Gln)
c.42736A>C (p.Lys14246Gln)
c.40078A>C (p.Lys13360Gln)
c.39997A>C (p.Lys13333Gln)
c.21760A>C (p.Lys7254Gln)
c.11614A>C (p.Lys3872Gln)
2g.178614649T=CA1310549453TTN,TTN-AS1c.41161A= (p.Lys13721=)
c.22246A= (p.Lys7416=)
c.22045A= (p.Lys7349=)
c.21670A= (p.Lys7224=)
c.48865A= (p.Lys16289=)
c.43942A= (p.Lys14648=)
n.1397T=
c.47962A= (p.Lys15988=)
c.21856A= (p.Lys7286=)
c.21715A= (p.Lys7239=)
c.47758A= (p.Lys15920=)
c.43156A= (p.Lys14386=)
c.43153A= (p.Lys14385=)
c.40195A= (p.Lys13399=)
c.21811A= (p.Lys7271=)
c.43306A= (p.Lys14436=)
c.43303A= (p.Lys14435=)
c.42736A= (p.Lys14246=)
c.40078A= (p.Lys13360=)
c.39997A= (p.Lys13333=)
c.21760A= (p.Lys7254=)
c.11614A= (p.Lys3872=)
2g.178614650A>CCA430273878TTN,TTN-AS1c.41160T>G (p.Pro13720=)
c.22245T>G (p.Pro7415=)
c.22044T>G (p.Pro7348=)
c.21669T>G (p.Pro7223=)
c.48864T>G (p.Pro16288=)
c.43941T>G (p.Pro14647=)
n.1398A>C
c.47961T>G (p.Pro15987=)
c.21855T>G (p.Pro7285=)
c.21714T>G (p.Pro7238=)
c.47757T>G (p.Pro15919=)
c.43155T>G (p.Pro14385=)
c.43152T>G (p.Pro14384=)
c.40194T>G (p.Pro13398=)
c.21810T>G (p.Pro7270=)
c.43305T>G (p.Pro14435=)
c.43302T>G (p.Pro14434=)
c.42735T>G (p.Pro14245=)
c.40077T>G (p.Pro13359=)
c.39996T>G (p.Pro13332=)
c.21759T>G (p.Pro7253=)
c.11613T>G (p.Pro3871=)
2g.178614650A>GCA430273873TTN,TTN-AS1c.41160T>C (p.Pro13720=)
c.22245T>C (p.Pro7415=)
c.22044T>C (p.Pro7348=)
c.21669T>C (p.Pro7223=)
c.48864T>C (p.Pro16288=)
c.43941T>C (p.Pro14647=)
n.1398A>G
c.47961T>C (p.Pro15987=)
c.21855T>C (p.Pro7285=)
c.21714T>C (p.Pro7238=)
c.47757T>C (p.Pro15919=)
c.43155T>C (p.Pro14385=)
c.43152T>C (p.Pro14384=)
c.40194T>C (p.Pro13398=)
c.21810T>C (p.Pro7270=)
c.43305T>C (p.Pro14435=)
c.43302T>C (p.Pro14434=)
c.42735T>C (p.Pro14245=)
c.40077T>C (p.Pro13359=)
c.39996T>C (p.Pro13332=)
c.21759T>C (p.Pro7253=)
c.11613T>C (p.Pro3871=)
2g.178614650A>TCA430273877TTN,TTN-AS1c.41160T>A (p.Pro13720=)
c.22245T>A (p.Pro7415=)
c.22044T>A (p.Pro7348=)
c.21669T>A (p.Pro7223=)
c.48864T>A (p.Pro16288=)
c.43941T>A (p.Pro14647=)
n.1398A>T
c.47961T>A (p.Pro15987=)
c.21855T>A (p.Pro7285=)
c.21714T>A (p.Pro7238=)
c.47757T>A (p.Pro15919=)
c.43155T>A (p.Pro14385=)
c.43152T>A (p.Pro14384=)
c.40194T>A (p.Pro13398=)
c.21810T>A (p.Pro7270=)
c.43305T>A (p.Pro14435=)
c.43302T>A (p.Pro14434=)
c.42735T>A (p.Pro14245=)
c.40077T>A (p.Pro13359=)
c.39996T>A (p.Pro13332=)
c.21759T>A (p.Pro7253=)
c.11613T>A (p.Pro3871=)
 ClinVar dbSNP
2g.178614650_178614651delinsAGCA1310549454TTN,TTN-AS1c.41159_41160delinsCT (p.Pro13720=)
c.22244_22245delinsCT (p.Pro7415=)
c.22043_22044delinsCT (p.Pro7348=)
c.21668_21669delinsCT (p.Pro7223=)
c.48863_48864delinsCT (p.Pro16288=)
c.43940_43941delinsCT (p.Pro14647=)
n.1398_1399delinsAG
c.47960_47961delinsCT (p.Pro15987=)
c.21854_21855delinsCT (p.Pro7285=)
c.21713_21714delinsCT (p.Pro7238=)
c.47756_47757delinsCT (p.Pro15919=)
c.43154_43155delinsCT (p.Pro14385=)
c.43151_43152delinsCT (p.Pro14384=)
c.40193_40194delinsCT (p.Pro13398=)
c.21809_21810delinsCT (p.Pro7270=)
c.43304_43305delinsCT (p.Pro14435=)
c.43301_43302delinsCT (p.Pro14434=)
c.42734_42735delinsCT (p.Pro14245=)
c.40076_40077delinsCT (p.Pro13359=)
c.39995_39996delinsCT (p.Pro13332=)
c.21758_21759delinsCT (p.Pro7253=)
c.11612_11613delinsCT (p.Pro3871=)
2g.178614651G>ACA349607676TTN,TTN-AS1c.41159C>T (p.Pro13720Leu)
c.22244C>T (p.Pro7415Leu)
c.22043C>T (p.Pro7348Leu)
c.21668C>T (p.Pro7223Leu)
c.48863C>T (p.Pro16288Leu)
c.43940C>T (p.Pro14647Leu)
n.1399G>A
c.47960C>T (p.Pro15987Leu)
c.21854C>T (p.Pro7285Leu)
c.21713C>T (p.Pro7238Leu)
c.47756C>T (p.Pro15919Leu)
c.43154C>T (p.Pro14385Leu)
c.43151C>T (p.Pro14384Leu)
c.40193C>T (p.Pro13398Leu)
c.21809C>T (p.Pro7270Leu)
c.43304C>T (p.Pro14435Leu)
c.43301C>T (p.Pro14434Leu)
c.42734C>T (p.Pro14245Leu)
c.40076C>T (p.Pro13359Leu)
c.39995C>T (p.Pro13332Leu)
c.21758C>T (p.Pro7253Leu)
c.11612C>T (p.Pro3871Leu)
 gnomAD v4
2g.178614651G>CCA1994731TTN,TTN-AS1c.41159C>G (p.Pro13720Arg)
c.22244C>G (p.Pro7415Arg)
c.22043C>G (p.Pro7348Arg)
c.21668C>G (p.Pro7223Arg)
c.48863C>G (p.Pro16288Arg)
c.43940C>G (p.Pro14647Arg)
n.1399G>C
c.47960C>G (p.Pro15987Arg)
c.21854C>G (p.Pro7285Arg)
c.21713C>G (p.Pro7238Arg)
c.47756C>G (p.Pro15919Arg)
c.43154C>G (p.Pro14385Arg)
c.43151C>G (p.Pro14384Arg)
c.40193C>G (p.Pro13398Arg)
c.21809C>G (p.Pro7270Arg)
c.43304C>G (p.Pro14435Arg)
c.43301C>G (p.Pro14434Arg)
c.42734C>G (p.Pro14245Arg)
c.40076C>G (p.Pro13359Arg)
c.39995C>G (p.Pro13332Arg)
c.21758C>G (p.Pro7253Arg)
c.11612C>G (p.Pro3871Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178614651G=CA1310549455TTN,TTN-AS1c.41159C= (p.Pro13720=)
c.22244C= (p.Pro7415=)
c.22043C= (p.Pro7348=)
c.21668C= (p.Pro7223=)
c.48863C= (p.Pro16288=)
c.43940C= (p.Pro14647=)
n.1399G=
c.47960C= (p.Pro15987=)
c.21854C= (p.Pro7285=)
c.21713C= (p.Pro7238=)
c.47756C= (p.Pro15919=)
c.43154C= (p.Pro14385=)
c.43151C= (p.Pro14384=)
c.40193C= (p.Pro13398=)
c.21809C= (p.Pro7270=)
c.43304C= (p.Pro14435=)
c.43301C= (p.Pro14434=)
c.42734C= (p.Pro14245=)
c.40076C= (p.Pro13359=)
c.39995C= (p.Pro13332=)
c.21758C= (p.Pro7253=)
c.11612C= (p.Pro3871=)
2g.178614651G>TCA349607680TTN,TTN-AS1c.41159C>A (p.Pro13720His)
c.22244C>A (p.Pro7415His)
c.22043C>A (p.Pro7348His)
c.21668C>A (p.Pro7223His)
c.48863C>A (p.Pro16288His)
c.43940C>A (p.Pro14647His)
n.1399G>T
c.47960C>A (p.Pro15987His)
c.21854C>A (p.Pro7285His)
c.21713C>A (p.Pro7238His)
c.47756C>A (p.Pro15919His)
c.43154C>A (p.Pro14385His)
c.43151C>A (p.Pro14384His)
c.40193C>A (p.Pro13398His)
c.21809C>A (p.Pro7270His)
c.43304C>A (p.Pro14435His)
c.43301C>A (p.Pro14434His)
c.42734C>A (p.Pro14245His)
c.40076C>A (p.Pro13359His)
c.39995C>A (p.Pro13332His)
c.21758C>A (p.Pro7253His)
c.11612C>A (p.Pro3871His)
 dbSNP
2g.178614652delCA309407TTN,TTN-AS1c.41159del (p.Pro13720LeufsTer3)
c.22244del (p.Pro7415LeufsTer3)
c.22043del (p.Pro7348LeufsTer3)
c.21668del (p.Pro7223LeufsTer3)
c.48863del (p.Pro16288LeufsTer3)
c.43940del (p.Pro14647LeufsTer3)
n.1400del
c.47960del (p.Pro15987LeufsTer3)
c.21854del (p.Pro7285LeufsTer3)
c.21713del (p.Pro7238LeufsTer3)
c.47756del (p.Pro15919LeufsTer3)
c.43154del (p.Pro14385LeufsTer3)
c.43151del (p.Pro14384LeufsTer3)
c.40193del (p.Pro13398LeufsTer3)
c.21809del (p.Pro7270LeufsTer3)
c.43304del (p.Pro14435LeufsTer3)
c.43301del (p.Pro14434LeufsTer3)
c.42734del (p.Pro14245LeufsTer3)
c.40076del (p.Pro13359LeufsTer3)
c.39995del (p.Pro13332LeufsTer3)
c.21758del (p.Pro7253LeufsTer3)
c.11612del (p.Pro3871LeufsTer3)
 ClinVar dbSNP gnomAD v4
2g.178614652G>ACA60987700TTN,TTN-AS1c.41158C>T (p.Pro13720Ser)
c.22243C>T (p.Pro7415Ser)
c.22042C>T (p.Pro7348Ser)
c.21667C>T (p.Pro7223Ser)
c.48862C>T (p.Pro16288Ser)
c.43939C>T (p.Pro14647Ser)
n.1400G>A
c.47959C>T (p.Pro15987Ser)
c.21853C>T (p.Pro7285Ser)
c.21712C>T (p.Pro7238Ser)
c.47755C>T (p.Pro15919Ser)
c.43153C>T (p.Pro14385Ser)
c.43150C>T (p.Pro14384Ser)
c.40192C>T (p.Pro13398Ser)
c.21808C>T (p.Pro7270Ser)
c.43303C>T (p.Pro14435Ser)
c.43300C>T (p.Pro14434Ser)
c.42733C>T (p.Pro14245Ser)
c.40075C>T (p.Pro13359Ser)
c.39994C>T (p.Pro13332Ser)
c.21757C>T (p.Pro7253Ser)
c.11611C>T (p.Pro3871Ser)
 ClinVar dbSNP gnomAD v4
2g.178614652G>CCA349607683TTN,TTN-AS1c.41158C>G (p.Pro13720Ala)
c.22243C>G (p.Pro7415Ala)
c.22042C>G (p.Pro7348Ala)
c.21667C>G (p.Pro7223Ala)
c.48862C>G (p.Pro16288Ala)
c.43939C>G (p.Pro14647Ala)
n.1400G>C
c.47959C>G (p.Pro15987Ala)
c.21853C>G (p.Pro7285Ala)
c.21712C>G (p.Pro7238Ala)
c.47755C>G (p.Pro15919Ala)
c.43153C>G (p.Pro14385Ala)
c.43150C>G (p.Pro14384Ala)
c.40192C>G (p.Pro13398Ala)
c.21808C>G (p.Pro7270Ala)
c.43303C>G (p.Pro14435Ala)
c.43300C>G (p.Pro14434Ala)
c.42733C>G (p.Pro14245Ala)
c.40075C>G (p.Pro13359Ala)
c.39994C>G (p.Pro13332Ala)
c.21757C>G (p.Pro7253Ala)
c.11611C>G (p.Pro3871Ala)
2g.178614652G=CA1310549456TTN,TTN-AS1c.41158C= (p.Pro13720=)
c.22243C= (p.Pro7415=)
c.22042C= (p.Pro7348=)
c.21667C= (p.Pro7223=)
c.48862C= (p.Pro16288=)
c.43939C= (p.Pro14647=)
n.1400G=
c.47959C= (p.Pro15987=)
c.21853C= (p.Pro7285=)
c.21712C= (p.Pro7238=)
c.47755C= (p.Pro15919=)
c.43153C= (p.Pro14385=)
c.43150C= (p.Pro14384=)
c.40192C= (p.Pro13398=)
c.21808C= (p.Pro7270=)
c.43303C= (p.Pro14435=)
c.43300C= (p.Pro14434=)
c.42733C= (p.Pro14245=)
c.40075C= (p.Pro13359=)
c.39994C= (p.Pro13332=)
c.21757C= (p.Pro7253=)
c.11611C= (p.Pro3871=)

Number of alleles fetched