Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178589750delCA2573133803TTN,TTN-AS1c.54273del (p.Ile18092PhefsTer28)
c.35358del (p.Ile11787PhefsTer28)
c.35157del (p.Ile11720PhefsTer28)
c.34782del (p.Ile11595PhefsTer28)
c.61977del (p.Ile20660PhefsTer28)
c.57054del (p.Ile19019PhefsTer28)
n.597-7846del
n.3189-1389del
c.61074del (p.Ile20359PhefsTer28)
c.34968del (p.Ile11657PhefsTer28)
c.34827del (p.Ile11610PhefsTer28)
c.60870del (p.Ile20291PhefsTer28)
c.56268del (p.Ile18757PhefsTer28)
c.56265del (p.Ile18756PhefsTer28)
c.53307del (p.Ile17770PhefsTer28)
c.34923del (p.Ile11642PhefsTer28)
c.56418del (p.Ile18807PhefsTer28)
c.56415del (p.Ile18806PhefsTer28)
c.55848del (p.Ile18617PhefsTer28)
c.53190del (p.Ile17731PhefsTer28)
c.53109del (p.Ile17704PhefsTer28)
c.34872del (p.Ile11625PhefsTer28)
c.24726del (p.Ile8243PhefsTer28)
 ClinVar dbSNP
2g.178589749G>ACA349466935TTN,TTN-AS1c.54272C>T (p.Pro18091Leu)
c.35357C>T (p.Pro11786Leu)
c.35156C>T (p.Pro11719Leu)
c.34781C>T (p.Pro11594Leu)
c.61976C>T (p.Pro20659Leu)
c.57053C>T (p.Pro19018Leu)
n.597-7847G>A
n.3189-1390G>A
c.61073C>T (p.Pro20358Leu)
c.34967C>T (p.Pro11656Leu)
c.34826C>T (p.Pro11609Leu)
c.60869C>T (p.Pro20290Leu)
c.56267C>T (p.Pro18756Leu)
c.56264C>T (p.Pro18755Leu)
c.53306C>T (p.Pro17769Leu)
c.34922C>T (p.Pro11641Leu)
c.56417C>T (p.Pro18806Leu)
c.56414C>T (p.Pro18805Leu)
c.55847C>T (p.Pro18616Leu)
c.53189C>T (p.Pro17730Leu)
c.53108C>T (p.Pro17703Leu)
c.34871C>T (p.Pro11624Leu)
c.24725C>T (p.Pro8242Leu)
2g.178589749G>CCA349466938TTN,TTN-AS1c.54272C>G (p.Pro18091Arg)
c.35357C>G (p.Pro11786Arg)
c.35156C>G (p.Pro11719Arg)
c.34781C>G (p.Pro11594Arg)
c.61976C>G (p.Pro20659Arg)
c.57053C>G (p.Pro19018Arg)
n.597-7847G>C
n.3189-1390G>C
c.61073C>G (p.Pro20358Arg)
c.34967C>G (p.Pro11656Arg)
c.34826C>G (p.Pro11609Arg)
c.60869C>G (p.Pro20290Arg)
c.56267C>G (p.Pro18756Arg)
c.56264C>G (p.Pro18755Arg)
c.53306C>G (p.Pro17769Arg)
c.34922C>G (p.Pro11641Arg)
c.56417C>G (p.Pro18806Arg)
c.56414C>G (p.Pro18805Arg)
c.55847C>G (p.Pro18616Arg)
c.53189C>G (p.Pro17730Arg)
c.53108C>G (p.Pro17703Arg)
c.34871C>G (p.Pro11624Arg)
c.24725C>G (p.Pro8242Arg)
 gnomAD v4
2g.178589749G>TCA349466937TTN,TTN-AS1c.54272C>A (p.Pro18091His)
c.35357C>A (p.Pro11786His)
c.35156C>A (p.Pro11719His)
c.34781C>A (p.Pro11594His)
c.61976C>A (p.Pro20659His)
c.57053C>A (p.Pro19018His)
n.597-7847G>T
n.3189-1390G>T
c.61073C>A (p.Pro20358His)
c.34967C>A (p.Pro11656His)
c.34826C>A (p.Pro11609His)
c.60869C>A (p.Pro20290His)
c.56267C>A (p.Pro18756His)
c.56264C>A (p.Pro18755His)
c.53306C>A (p.Pro17769His)
c.34922C>A (p.Pro11641His)
c.56417C>A (p.Pro18806His)
c.56414C>A (p.Pro18805His)
c.55847C>A (p.Pro18616His)
c.53189C>A (p.Pro17730His)
c.53108C>A (p.Pro17703His)
c.34871C>A (p.Pro11624His)
c.24725C>A (p.Pro8242His)
2g.178589750G>ACA349466948TTN,TTN-AS1c.54271C>T (p.Pro18091Ser)
c.35356C>T (p.Pro11786Ser)
c.35155C>T (p.Pro11719Ser)
c.34780C>T (p.Pro11594Ser)
c.61975C>T (p.Pro20659Ser)
c.57052C>T (p.Pro19018Ser)
n.597-7846G>A
n.3189-1389G>A
c.61072C>T (p.Pro20358Ser)
c.34966C>T (p.Pro11656Ser)
c.34825C>T (p.Pro11609Ser)
c.60868C>T (p.Pro20290Ser)
c.56266C>T (p.Pro18756Ser)
c.56263C>T (p.Pro18755Ser)
c.53305C>T (p.Pro17769Ser)
c.34921C>T (p.Pro11641Ser)
c.56416C>T (p.Pro18806Ser)
c.56413C>T (p.Pro18805Ser)
c.55846C>T (p.Pro18616Ser)
c.53188C>T (p.Pro17730Ser)
c.53107C>T (p.Pro17703Ser)
c.34870C>T (p.Pro11624Ser)
c.24724C>T (p.Pro8242Ser)
2g.178589750G>CCA349466951TTN,TTN-AS1c.54271C>G (p.Pro18091Ala)
c.35356C>G (p.Pro11786Ala)
c.35155C>G (p.Pro11719Ala)
c.34780C>G (p.Pro11594Ala)
c.61975C>G (p.Pro20659Ala)
c.57052C>G (p.Pro19018Ala)
n.597-7846G>C
n.3189-1389G>C
c.61072C>G (p.Pro20358Ala)
c.34966C>G (p.Pro11656Ala)
c.34825C>G (p.Pro11609Ala)
c.60868C>G (p.Pro20290Ala)
c.56266C>G (p.Pro18756Ala)
c.56263C>G (p.Pro18755Ala)
c.53305C>G (p.Pro17769Ala)
c.34921C>G (p.Pro11641Ala)
c.56416C>G (p.Pro18806Ala)
c.56413C>G (p.Pro18805Ala)
c.55846C>G (p.Pro18616Ala)
c.53188C>G (p.Pro17730Ala)
c.53107C>G (p.Pro17703Ala)
c.34870C>G (p.Pro11624Ala)
c.24724C>G (p.Pro8242Ala)
2g.178589750G>TCA349466952TTN,TTN-AS1c.54271C>A (p.Pro18091Thr)
c.35356C>A (p.Pro11786Thr)
c.35155C>A (p.Pro11719Thr)
c.34780C>A (p.Pro11594Thr)
c.61975C>A (p.Pro20659Thr)
c.57052C>A (p.Pro19018Thr)
n.597-7846G>T
n.3189-1389G>T
c.61072C>A (p.Pro20358Thr)
c.34966C>A (p.Pro11656Thr)
c.34825C>A (p.Pro11609Thr)
c.60868C>A (p.Pro20290Thr)
c.56266C>A (p.Pro18756Thr)
c.56263C>A (p.Pro18755Thr)
c.53305C>A (p.Pro17769Thr)
c.34921C>A (p.Pro11641Thr)
c.56416C>A (p.Pro18806Thr)
c.56413C>A (p.Pro18805Thr)
c.55846C>A (p.Pro18616Thr)
c.53188C>A (p.Pro17730Thr)
c.53107C>A (p.Pro17703Thr)
c.34870C>A (p.Pro11624Thr)
c.24724C>A (p.Pro8242Thr)
2g.178589751A>CCA430265688TTN,TTN-AS1c.54270T>G (p.Thr18090=)
c.35355T>G (p.Thr11785=)
c.35154T>G (p.Thr11718=)
c.34779T>G (p.Thr11593=)
c.61974T>G (p.Thr20658=)
c.57051T>G (p.Thr19017=)
n.597-7845A>C
n.3189-1388A>C
c.61071T>G (p.Thr20357=)
c.34965T>G (p.Thr11655=)
c.34824T>G (p.Thr11608=)
c.60867T>G (p.Thr20289=)
c.56265T>G (p.Thr18755=)
c.56262T>G (p.Thr18754=)
c.53304T>G (p.Thr17768=)
c.34920T>G (p.Thr11640=)
c.56415T>G (p.Thr18805=)
c.56412T>G (p.Thr18804=)
c.55845T>G (p.Thr18615=)
c.53187T>G (p.Thr17729=)
c.53106T>G (p.Thr17702=)
c.34869T>G (p.Thr11623=)
c.24723T>G (p.Thr8241=)
2g.178589751A>GCA430265690TTN,TTN-AS1c.54270T>C (p.Thr18090=)
c.35355T>C (p.Thr11785=)
c.35154T>C (p.Thr11718=)
c.34779T>C (p.Thr11593=)
c.61974T>C (p.Thr20658=)
c.57051T>C (p.Thr19017=)
n.597-7845A>G
n.3189-1388A>G
c.61071T>C (p.Thr20357=)
c.34965T>C (p.Thr11655=)
c.34824T>C (p.Thr11608=)
c.60867T>C (p.Thr20289=)
c.56265T>C (p.Thr18755=)
c.56262T>C (p.Thr18754=)
c.53304T>C (p.Thr17768=)
c.34920T>C (p.Thr11640=)
c.56415T>C (p.Thr18805=)
c.56412T>C (p.Thr18804=)
c.55845T>C (p.Thr18615=)
c.53187T>C (p.Thr17729=)
c.53106T>C (p.Thr17702=)
c.34869T>C (p.Thr11623=)
c.24723T>C (p.Thr8241=)
2g.178589751A>TCA430265691TTN,TTN-AS1c.54270T>A (p.Thr18090=)
c.35355T>A (p.Thr11785=)
c.35154T>A (p.Thr11718=)
c.34779T>A (p.Thr11593=)
c.61974T>A (p.Thr20658=)
c.57051T>A (p.Thr19017=)
n.597-7845A>T
n.3189-1388A>T
c.61071T>A (p.Thr20357=)
c.34965T>A (p.Thr11655=)
c.34824T>A (p.Thr11608=)
c.60867T>A (p.Thr20289=)
c.56265T>A (p.Thr18755=)
c.56262T>A (p.Thr18754=)
c.53304T>A (p.Thr17768=)
c.34920T>A (p.Thr11640=)
c.56415T>A (p.Thr18805=)
c.56412T>A (p.Thr18804=)
c.55845T>A (p.Thr18615=)
c.53187T>A (p.Thr17729=)
c.53106T>A (p.Thr17702=)
c.34869T>A (p.Thr11623=)
c.24723T>A (p.Thr8241=)
2g.178589752G>ACA349466954TTN,TTN-AS1c.54269C>T (p.Thr18090Ile)
c.35354C>T (p.Thr11785Ile)
c.35153C>T (p.Thr11718Ile)
c.34778C>T (p.Thr11593Ile)
c.61973C>T (p.Thr20658Ile)
c.57050C>T (p.Thr19017Ile)
n.597-7844G>A
n.3189-1387G>A
c.61070C>T (p.Thr20357Ile)
c.34964C>T (p.Thr11655Ile)
c.34823C>T (p.Thr11608Ile)
c.60866C>T (p.Thr20289Ile)
c.56264C>T (p.Thr18755Ile)
c.56261C>T (p.Thr18754Ile)
c.53303C>T (p.Thr17768Ile)
c.34919C>T (p.Thr11640Ile)
c.56414C>T (p.Thr18805Ile)
c.56411C>T (p.Thr18804Ile)
c.55844C>T (p.Thr18615Ile)
c.53186C>T (p.Thr17729Ile)
c.53105C>T (p.Thr17702Ile)
c.34868C>T (p.Thr11623Ile)
c.24722C>T (p.Thr8241Ile)
 COSMIC COSMIC COSMIC COSMIC
2g.178589752G>CCA349466956TTN,TTN-AS1c.54269C>G (p.Thr18090Ser)
c.35354C>G (p.Thr11785Ser)
c.35153C>G (p.Thr11718Ser)
c.34778C>G (p.Thr11593Ser)
c.61973C>G (p.Thr20658Ser)
c.57050C>G (p.Thr19017Ser)
n.597-7844G>C
n.3189-1387G>C
c.61070C>G (p.Thr20357Ser)
c.34964C>G (p.Thr11655Ser)
c.34823C>G (p.Thr11608Ser)
c.60866C>G (p.Thr20289Ser)
c.56264C>G (p.Thr18755Ser)
c.56261C>G (p.Thr18754Ser)
c.53303C>G (p.Thr17768Ser)
c.34919C>G (p.Thr11640Ser)
c.56414C>G (p.Thr18805Ser)
c.56411C>G (p.Thr18804Ser)
c.55844C>G (p.Thr18615Ser)
c.53186C>G (p.Thr17729Ser)
c.53105C>G (p.Thr17702Ser)
c.34868C>G (p.Thr11623Ser)
c.24722C>G (p.Thr8241Ser)
2g.178589752G>TCA349466961TTN,TTN-AS1c.54269C>A (p.Thr18090Asn)
c.35354C>A (p.Thr11785Asn)
c.35153C>A (p.Thr11718Asn)
c.34778C>A (p.Thr11593Asn)
c.61973C>A (p.Thr20658Asn)
c.57050C>A (p.Thr19017Asn)
n.597-7844G>T
n.3189-1387G>T
c.61070C>A (p.Thr20357Asn)
c.34964C>A (p.Thr11655Asn)
c.34823C>A (p.Thr11608Asn)
c.60866C>A (p.Thr20289Asn)
c.56264C>A (p.Thr18755Asn)
c.56261C>A (p.Thr18754Asn)
c.53303C>A (p.Thr17768Asn)
c.34919C>A (p.Thr11640Asn)
c.56414C>A (p.Thr18805Asn)
c.56411C>A (p.Thr18804Asn)
c.55844C>A (p.Thr18615Asn)
c.53186C>A (p.Thr17729Asn)
c.53105C>A (p.Thr17702Asn)
c.34868C>A (p.Thr11623Asn)
c.24722C>A (p.Thr8241Asn)
2g.178589753T>ACA349466962TTN,TTN-AS1c.54268A>T (p.Thr18090Ser)
c.35353A>T (p.Thr11785Ser)
c.35152A>T (p.Thr11718Ser)
c.34777A>T (p.Thr11593Ser)
c.61972A>T (p.Thr20658Ser)
c.57049A>T (p.Thr19017Ser)
n.597-7843T>A
n.3189-1386T>A
c.61069A>T (p.Thr20357Ser)
c.34963A>T (p.Thr11655Ser)
c.34822A>T (p.Thr11608Ser)
c.60865A>T (p.Thr20289Ser)
c.56263A>T (p.Thr18755Ser)
c.56260A>T (p.Thr18754Ser)
c.53302A>T (p.Thr17768Ser)
c.34918A>T (p.Thr11640Ser)
c.56413A>T (p.Thr18805Ser)
c.56410A>T (p.Thr18804Ser)
c.55843A>T (p.Thr18615Ser)
c.53185A>T (p.Thr17729Ser)
c.53104A>T (p.Thr17702Ser)
c.34867A>T (p.Thr11623Ser)
c.24721A>T (p.Thr8241Ser)
2g.178589753T>CCA349466963TTN,TTN-AS1c.54268A>G (p.Thr18090Ala)
c.35353A>G (p.Thr11785Ala)
c.35152A>G (p.Thr11718Ala)
c.34777A>G (p.Thr11593Ala)
c.61972A>G (p.Thr20658Ala)
c.57049A>G (p.Thr19017Ala)
n.597-7843T>C
n.3189-1386T>C
c.61069A>G (p.Thr20357Ala)
c.34963A>G (p.Thr11655Ala)
c.34822A>G (p.Thr11608Ala)
c.60865A>G (p.Thr20289Ala)
c.56263A>G (p.Thr18755Ala)
c.56260A>G (p.Thr18754Ala)
c.53302A>G (p.Thr17768Ala)
c.34918A>G (p.Thr11640Ala)
c.56413A>G (p.Thr18805Ala)
c.56410A>G (p.Thr18804Ala)
c.55843A>G (p.Thr18615Ala)
c.53185A>G (p.Thr17729Ala)
c.53104A>G (p.Thr17702Ala)
c.34867A>G (p.Thr11623Ala)
c.24721A>G (p.Thr8241Ala)
2g.178589753T>GCA349466964TTN,TTN-AS1c.54268A>C (p.Thr18090Pro)
c.35353A>C (p.Thr11785Pro)
c.35152A>C (p.Thr11718Pro)
c.34777A>C (p.Thr11593Pro)
c.61972A>C (p.Thr20658Pro)
c.57049A>C (p.Thr19017Pro)
n.597-7843T>G
n.3189-1386T>G
c.61069A>C (p.Thr20357Pro)
c.34963A>C (p.Thr11655Pro)
c.34822A>C (p.Thr11608Pro)
c.60865A>C (p.Thr20289Pro)
c.56263A>C (p.Thr18755Pro)
c.56260A>C (p.Thr18754Pro)
c.53302A>C (p.Thr17768Pro)
c.34918A>C (p.Thr11640Pro)
c.56413A>C (p.Thr18805Pro)
c.56410A>C (p.Thr18804Pro)
c.55843A>C (p.Thr18615Pro)
c.53185A>C (p.Thr17729Pro)
c.53104A>C (p.Thr17702Pro)
c.34867A>C (p.Thr11623Pro)
c.24721A>C (p.Thr8241Pro)
2g.178589754T>ACA349466966TTN,TTN-AS1c.54267A>T (p.Lys18089Asn)
c.35352A>T (p.Lys11784Asn)
c.35151A>T (p.Lys11717Asn)
c.34776A>T (p.Lys11592Asn)
c.61971A>T (p.Lys20657Asn)
c.57048A>T (p.Lys19016Asn)
n.597-7842T>A
n.3189-1385T>A
c.61068A>T (p.Lys20356Asn)
c.34962A>T (p.Lys11654Asn)
c.34821A>T (p.Lys11607Asn)
c.60864A>T (p.Lys20288Asn)
c.56262A>T (p.Lys18754Asn)
c.56259A>T (p.Lys18753Asn)
c.53301A>T (p.Lys17767Asn)
c.34917A>T (p.Lys11639Asn)
c.56412A>T (p.Lys18804Asn)
c.56409A>T (p.Lys18803Asn)
c.55842A>T (p.Lys18614Asn)
c.53184A>T (p.Lys17728Asn)
c.53103A>T (p.Lys17701Asn)
c.34866A>T (p.Lys11622Asn)
c.24720A>T (p.Lys8240Asn)
2g.178589754T>CCA430265697TTN,TTN-AS1c.54267A>G (p.Lys18089=)
c.35352A>G (p.Lys11784=)
c.35151A>G (p.Lys11717=)
c.34776A>G (p.Lys11592=)
c.61971A>G (p.Lys20657=)
c.57048A>G (p.Lys19016=)
n.597-7842T>C
n.3189-1385T>C
c.61068A>G (p.Lys20356=)
c.34962A>G (p.Lys11654=)
c.34821A>G (p.Lys11607=)
c.60864A>G (p.Lys20288=)
c.56262A>G (p.Lys18754=)
c.56259A>G (p.Lys18753=)
c.53301A>G (p.Lys17767=)
c.34917A>G (p.Lys11639=)
c.56412A>G (p.Lys18804=)
c.56409A>G (p.Lys18803=)
c.55842A>G (p.Lys18614=)
c.53184A>G (p.Lys17728=)
c.53103A>G (p.Lys17701=)
c.34866A>G (p.Lys11622=)
c.24720A>G (p.Lys8240=)
2g.178589754T>GCA349466967TTN,TTN-AS1c.54267A>C (p.Lys18089Asn)
c.35352A>C (p.Lys11784Asn)
c.35151A>C (p.Lys11717Asn)
c.34776A>C (p.Lys11592Asn)
c.61971A>C (p.Lys20657Asn)
c.57048A>C (p.Lys19016Asn)
n.597-7842T>G
n.3189-1385T>G
c.61068A>C (p.Lys20356Asn)
c.34962A>C (p.Lys11654Asn)
c.34821A>C (p.Lys11607Asn)
c.60864A>C (p.Lys20288Asn)
c.56262A>C (p.Lys18754Asn)
c.56259A>C (p.Lys18753Asn)
c.53301A>C (p.Lys17767Asn)
c.34917A>C (p.Lys11639Asn)
c.56412A>C (p.Lys18804Asn)
c.56409A>C (p.Lys18803Asn)
c.55842A>C (p.Lys18614Asn)
c.53184A>C (p.Lys17728Asn)
c.53103A>C (p.Lys17701Asn)
c.34866A>C (p.Lys11622Asn)
c.24720A>C (p.Lys8240Asn)
2g.178589755T>ACA349466970TTN,TTN-AS1c.54266A>T (p.Lys18089Ile)
c.35351A>T (p.Lys11784Ile)
c.35150A>T (p.Lys11717Ile)
c.34775A>T (p.Lys11592Ile)
c.61970A>T (p.Lys20657Ile)
c.57047A>T (p.Lys19016Ile)
n.597-7841T>A
n.3189-1384T>A
c.61067A>T (p.Lys20356Ile)
c.34961A>T (p.Lys11654Ile)
c.34820A>T (p.Lys11607Ile)
c.60863A>T (p.Lys20288Ile)
c.56261A>T (p.Lys18754Ile)
c.56258A>T (p.Lys18753Ile)
c.53300A>T (p.Lys17767Ile)
c.34916A>T (p.Lys11639Ile)
c.56411A>T (p.Lys18804Ile)
c.56408A>T (p.Lys18803Ile)
c.55841A>T (p.Lys18614Ile)
c.53183A>T (p.Lys17728Ile)
c.53102A>T (p.Lys17701Ile)
c.34865A>T (p.Lys11622Ile)
c.24719A>T (p.Lys8240Ile)
2g.178589755T>CCA349466972TTN,TTN-AS1c.54266A>G (p.Lys18089Arg)
c.35351A>G (p.Lys11784Arg)
c.35150A>G (p.Lys11717Arg)
c.34775A>G (p.Lys11592Arg)
c.61970A>G (p.Lys20657Arg)
c.57047A>G (p.Lys19016Arg)
n.597-7841T>C
n.3189-1384T>C
c.61067A>G (p.Lys20356Arg)
c.34961A>G (p.Lys11654Arg)
c.34820A>G (p.Lys11607Arg)
c.60863A>G (p.Lys20288Arg)
c.56261A>G (p.Lys18754Arg)
c.56258A>G (p.Lys18753Arg)
c.53300A>G (p.Lys17767Arg)
c.34916A>G (p.Lys11639Arg)
c.56411A>G (p.Lys18804Arg)
c.56408A>G (p.Lys18803Arg)
c.55841A>G (p.Lys18614Arg)
c.53183A>G (p.Lys17728Arg)
c.53102A>G (p.Lys17701Arg)
c.34865A>G (p.Lys11622Arg)
c.24719A>G (p.Lys8240Arg)
2g.178589755T>GCA349466969TTN,TTN-AS1c.54266A>C (p.Lys18089Thr)
c.35351A>C (p.Lys11784Thr)
c.35150A>C (p.Lys11717Thr)
c.34775A>C (p.Lys11592Thr)
c.61970A>C (p.Lys20657Thr)
c.57047A>C (p.Lys19016Thr)
n.597-7841T>G
n.3189-1384T>G
c.61067A>C (p.Lys20356Thr)
c.34961A>C (p.Lys11654Thr)
c.34820A>C (p.Lys11607Thr)
c.60863A>C (p.Lys20288Thr)
c.56261A>C (p.Lys18754Thr)
c.56258A>C (p.Lys18753Thr)
c.53300A>C (p.Lys17767Thr)
c.34916A>C (p.Lys11639Thr)
c.56411A>C (p.Lys18804Thr)
c.56408A>C (p.Lys18803Thr)
c.55841A>C (p.Lys18614Thr)
c.53183A>C (p.Lys17728Thr)
c.53102A>C (p.Lys17701Thr)
c.34865A>C (p.Lys11622Thr)
c.24719A>C (p.Lys8240Thr)
2g.178589756T>ACA349466984TTN,TTN-AS1c.54265A>T (p.Lys18089Ter)
c.35350A>T (p.Lys11784Ter)
c.35149A>T (p.Lys11717Ter)
c.34774A>T (p.Lys11592Ter)
c.61969A>T (p.Lys20657Ter)
c.57046A>T (p.Lys19016Ter)
n.597-7840T>A
n.3189-1383T>A
c.61066A>T (p.Lys20356Ter)
c.34960A>T (p.Lys11654Ter)
c.34819A>T (p.Lys11607Ter)
c.60862A>T (p.Lys20288Ter)
c.56260A>T (p.Lys18754Ter)
c.56257A>T (p.Lys18753Ter)
c.53299A>T (p.Lys17767Ter)
c.34915A>T (p.Lys11639Ter)
c.56410A>T (p.Lys18804Ter)
c.56407A>T (p.Lys18803Ter)
c.55840A>T (p.Lys18614Ter)
c.53182A>T (p.Lys17728Ter)
c.53101A>T (p.Lys17701Ter)
c.34864A>T (p.Lys11622Ter)
c.24718A>T (p.Lys8240Ter)
2g.178589756T>CCA349466975TTN,TTN-AS1c.54265A>G (p.Lys18089Glu)
c.35350A>G (p.Lys11784Glu)
c.35149A>G (p.Lys11717Glu)
c.34774A>G (p.Lys11592Glu)
c.61969A>G (p.Lys20657Glu)
c.57046A>G (p.Lys19016Glu)
n.597-7840T>C
n.3189-1383T>C
c.61066A>G (p.Lys20356Glu)
c.34960A>G (p.Lys11654Glu)
c.34819A>G (p.Lys11607Glu)
c.60862A>G (p.Lys20288Glu)
c.56260A>G (p.Lys18754Glu)
c.56257A>G (p.Lys18753Glu)
c.53299A>G (p.Lys17767Glu)
c.34915A>G (p.Lys11639Glu)
c.56410A>G (p.Lys18804Glu)
c.56407A>G (p.Lys18803Glu)
c.55840A>G (p.Lys18614Glu)
c.53182A>G (p.Lys17728Glu)
c.53101A>G (p.Lys17701Glu)
c.34864A>G (p.Lys11622Glu)
c.24718A>G (p.Lys8240Glu)
2g.178589756T>GCA349466977TTN,TTN-AS1c.54265A>C (p.Lys18089Gln)
c.35350A>C (p.Lys11784Gln)
c.35149A>C (p.Lys11717Gln)
c.34774A>C (p.Lys11592Gln)
c.61969A>C (p.Lys20657Gln)
c.57046A>C (p.Lys19016Gln)
n.597-7840T>G
n.3189-1383T>G
c.61066A>C (p.Lys20356Gln)
c.34960A>C (p.Lys11654Gln)
c.34819A>C (p.Lys11607Gln)
c.60862A>C (p.Lys20288Gln)
c.56260A>C (p.Lys18754Gln)
c.56257A>C (p.Lys18753Gln)
c.53299A>C (p.Lys17767Gln)
c.34915A>C (p.Lys11639Gln)
c.56410A>C (p.Lys18804Gln)
c.56407A>C (p.Lys18803Gln)
c.55840A>C (p.Lys18614Gln)
c.53182A>C (p.Lys17728Gln)
c.53101A>C (p.Lys17701Gln)
c.34864A>C (p.Lys11622Gln)
c.24718A>C (p.Lys8240Gln)
2g.178589757T>ACA430265700TTN,TTN-AS1c.54264A>T (p.Thr18088=)
c.35349A>T (p.Thr11783=)
c.35148A>T (p.Thr11716=)
c.34773A>T (p.Thr11591=)
c.61968A>T (p.Thr20656=)
c.57045A>T (p.Thr19015=)
n.597-7839T>A
n.3189-1382T>A
c.61065A>T (p.Thr20355=)
c.34959A>T (p.Thr11653=)
c.34818A>T (p.Thr11606=)
c.60861A>T (p.Thr20287=)
c.56259A>T (p.Thr18753=)
c.56256A>T (p.Thr18752=)
c.53298A>T (p.Thr17766=)
c.34914A>T (p.Thr11638=)
c.56409A>T (p.Thr18803=)
c.56406A>T (p.Thr18802=)
c.55839A>T (p.Thr18613=)
c.53181A>T (p.Thr17727=)
c.53100A>T (p.Thr17700=)
c.34863A>T (p.Thr11621=)
c.24717A>T (p.Thr8239=)
2g.178589757T>CCA430265703TTN,TTN-AS1c.54264A>G (p.Thr18088=)
c.35349A>G (p.Thr11783=)
c.35148A>G (p.Thr11716=)
c.34773A>G (p.Thr11591=)
c.61968A>G (p.Thr20656=)
c.57045A>G (p.Thr19015=)
n.597-7839T>C
n.3189-1382T>C
c.61065A>G (p.Thr20355=)
c.34959A>G (p.Thr11653=)
c.34818A>G (p.Thr11606=)
c.60861A>G (p.Thr20287=)
c.56259A>G (p.Thr18753=)
c.56256A>G (p.Thr18752=)
c.53298A>G (p.Thr17766=)
c.34914A>G (p.Thr11638=)
c.56409A>G (p.Thr18803=)
c.56406A>G (p.Thr18802=)
c.55839A>G (p.Thr18613=)
c.53181A>G (p.Thr17727=)
c.53100A>G (p.Thr17700=)
c.34863A>G (p.Thr11621=)
c.24717A>G (p.Thr8239=)
2g.178589757T>GCA430265701TTN,TTN-AS1c.54264A>C (p.Thr18088=)
c.35349A>C (p.Thr11783=)
c.35148A>C (p.Thr11716=)
c.34773A>C (p.Thr11591=)
c.61968A>C (p.Thr20656=)
c.57045A>C (p.Thr19015=)
n.597-7839T>G
n.3189-1382T>G
c.61065A>C (p.Thr20355=)
c.34959A>C (p.Thr11653=)
c.34818A>C (p.Thr11606=)
c.60861A>C (p.Thr20287=)
c.56259A>C (p.Thr18753=)
c.56256A>C (p.Thr18752=)
c.53298A>C (p.Thr17766=)
c.34914A>C (p.Thr11638=)
c.56409A>C (p.Thr18803=)
c.56406A>C (p.Thr18802=)
c.55839A>C (p.Thr18613=)
c.53181A>C (p.Thr17727=)
c.53100A>C (p.Thr17700=)
c.34863A>C (p.Thr11621=)
c.24717A>C (p.Thr8239=)
2g.178589758G>ACA349466989TTN,TTN-AS1c.54263C>T (p.Thr18088Ile)
c.35348C>T (p.Thr11783Ile)
c.35147C>T (p.Thr11716Ile)
c.34772C>T (p.Thr11591Ile)
c.61967C>T (p.Thr20656Ile)
c.57044C>T (p.Thr19015Ile)
n.597-7838G>A
n.3189-1381G>A
c.61064C>T (p.Thr20355Ile)
c.34958C>T (p.Thr11653Ile)
c.34817C>T (p.Thr11606Ile)
c.60860C>T (p.Thr20287Ile)
c.56258C>T (p.Thr18753Ile)
c.56255C>T (p.Thr18752Ile)
c.53297C>T (p.Thr17766Ile)
c.34913C>T (p.Thr11638Ile)
c.56408C>T (p.Thr18803Ile)
c.56405C>T (p.Thr18802Ile)
c.55838C>T (p.Thr18613Ile)
c.53180C>T (p.Thr17727Ile)
c.53099C>T (p.Thr17700Ile)
c.34862C>T (p.Thr11621Ile)
c.24716C>T (p.Thr8239Ile)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178589758G>CCA349466990TTN,TTN-AS1c.54263C>G (p.Thr18088Arg)
c.35348C>G (p.Thr11783Arg)
c.35147C>G (p.Thr11716Arg)
c.34772C>G (p.Thr11591Arg)
c.61967C>G (p.Thr20656Arg)
c.57044C>G (p.Thr19015Arg)
n.597-7838G>C
n.3189-1381G>C
c.61064C>G (p.Thr20355Arg)
c.34958C>G (p.Thr11653Arg)
c.34817C>G (p.Thr11606Arg)
c.60860C>G (p.Thr20287Arg)
c.56258C>G (p.Thr18753Arg)
c.56255C>G (p.Thr18752Arg)
c.53297C>G (p.Thr17766Arg)
c.34913C>G (p.Thr11638Arg)
c.56408C>G (p.Thr18803Arg)
c.56405C>G (p.Thr18802Arg)
c.55838C>G (p.Thr18613Arg)
c.53180C>G (p.Thr17727Arg)
c.53099C>G (p.Thr17700Arg)
c.34862C>G (p.Thr11621Arg)
c.24716C>G (p.Thr8239Arg)
2g.178589758G=CA1310538621TTN,TTN-AS1c.54263C= (p.Thr18088=)
c.35348C= (p.Thr11783=)
c.35147C= (p.Thr11716=)
c.34772C= (p.Thr11591=)
c.61967C= (p.Thr20656=)
c.57044C= (p.Thr19015=)
n.597-7838G=
n.3189-1381G=
c.61064C= (p.Thr20355=)
c.34958C= (p.Thr11653=)
c.34817C= (p.Thr11606=)
c.60860C= (p.Thr20287=)
c.56258C= (p.Thr18753=)
c.56255C= (p.Thr18752=)
c.53297C= (p.Thr17766=)
c.34913C= (p.Thr11638=)
c.56408C= (p.Thr18803=)
c.56405C= (p.Thr18802=)
c.55838C= (p.Thr18613=)
c.53180C= (p.Thr17727=)
c.53099C= (p.Thr17700=)
c.34862C= (p.Thr11621=)
c.24716C= (p.Thr8239=)
2g.178589758G>TCA349466991TTN,TTN-AS1c.54263C>A (p.Thr18088Lys)
c.35348C>A (p.Thr11783Lys)
c.35147C>A (p.Thr11716Lys)
c.34772C>A (p.Thr11591Lys)
c.61967C>A (p.Thr20656Lys)
c.57044C>A (p.Thr19015Lys)
n.597-7838G>T
n.3189-1381G>T
c.61064C>A (p.Thr20355Lys)
c.34958C>A (p.Thr11653Lys)
c.34817C>A (p.Thr11606Lys)
c.60860C>A (p.Thr20287Lys)
c.56258C>A (p.Thr18753Lys)
c.56255C>A (p.Thr18752Lys)
c.53297C>A (p.Thr17766Lys)
c.34913C>A (p.Thr11638Lys)
c.56408C>A (p.Thr18803Lys)
c.56405C>A (p.Thr18802Lys)
c.55838C>A (p.Thr18613Lys)
c.53180C>A (p.Thr17727Lys)
c.53099C>A (p.Thr17700Lys)
c.34862C>A (p.Thr11621Lys)
c.24716C>A (p.Thr8239Lys)
 ClinVar dbSNP gnomAD v4
2g.178589759T>ACA349466992TTN,TTN-AS1c.54262A>T (p.Thr18088Ser)
c.35347A>T (p.Thr11783Ser)
c.35146A>T (p.Thr11716Ser)
c.34771A>T (p.Thr11591Ser)
c.61966A>T (p.Thr20656Ser)
c.57043A>T (p.Thr19015Ser)
n.597-7837T>A
n.3189-1380T>A
c.61063A>T (p.Thr20355Ser)
c.34957A>T (p.Thr11653Ser)
c.34816A>T (p.Thr11606Ser)
c.60859A>T (p.Thr20287Ser)
c.56257A>T (p.Thr18753Ser)
c.56254A>T (p.Thr18752Ser)
c.53296A>T (p.Thr17766Ser)
c.34912A>T (p.Thr11638Ser)
c.56407A>T (p.Thr18803Ser)
c.56404A>T (p.Thr18802Ser)
c.55837A>T (p.Thr18613Ser)
c.53179A>T (p.Thr17727Ser)
c.53098A>T (p.Thr17700Ser)
c.34861A>T (p.Thr11621Ser)
c.24715A>T (p.Thr8239Ser)
2g.178589759T>CCA349466994TTN,TTN-AS1c.54262A>G (p.Thr18088Ala)
c.35347A>G (p.Thr11783Ala)
c.35146A>G (p.Thr11716Ala)
c.34771A>G (p.Thr11591Ala)
c.61966A>G (p.Thr20656Ala)
c.57043A>G (p.Thr19015Ala)
n.597-7837T>C
n.3189-1380T>C
c.61063A>G (p.Thr20355Ala)
c.34957A>G (p.Thr11653Ala)
c.34816A>G (p.Thr11606Ala)
c.60859A>G (p.Thr20287Ala)
c.56257A>G (p.Thr18753Ala)
c.56254A>G (p.Thr18752Ala)
c.53296A>G (p.Thr17766Ala)
c.34912A>G (p.Thr11638Ala)
c.56407A>G (p.Thr18803Ala)
c.56404A>G (p.Thr18802Ala)
c.55837A>G (p.Thr18613Ala)
c.53179A>G (p.Thr17727Ala)
c.53098A>G (p.Thr17700Ala)
c.34861A>G (p.Thr11621Ala)
c.24715A>G (p.Thr8239Ala)
2g.178589759T>GCA349466997TTN,TTN-AS1c.54262A>C (p.Thr18088Pro)
c.35347A>C (p.Thr11783Pro)
c.35146A>C (p.Thr11716Pro)
c.34771A>C (p.Thr11591Pro)
c.61966A>C (p.Thr20656Pro)
c.57043A>C (p.Thr19015Pro)
n.597-7837T>G
n.3189-1380T>G
c.61063A>C (p.Thr20355Pro)
c.34957A>C (p.Thr11653Pro)
c.34816A>C (p.Thr11606Pro)
c.60859A>C (p.Thr20287Pro)
c.56257A>C (p.Thr18753Pro)
c.56254A>C (p.Thr18752Pro)
c.53296A>C (p.Thr17766Pro)
c.34912A>C (p.Thr11638Pro)
c.56407A>C (p.Thr18803Pro)
c.56404A>C (p.Thr18802Pro)
c.55837A>C (p.Thr18613Pro)
c.53179A>C (p.Thr17727Pro)
c.53098A>C (p.Thr17700Pro)
c.34861A>C (p.Thr11621Pro)
c.24715A>C (p.Thr8239Pro)
2g.178589760T>ACA349467004TTN,TTN-AS1c.54261A>T (p.Glu18087Asp)
c.35346A>T (p.Glu11782Asp)
c.35145A>T (p.Glu11715Asp)
c.34770A>T (p.Glu11590Asp)
c.61965A>T (p.Glu20655Asp)
c.57042A>T (p.Glu19014Asp)
n.597-7836T>A
n.3189-1379T>A
c.61062A>T (p.Glu20354Asp)
c.34956A>T (p.Glu11652Asp)
c.34815A>T (p.Glu11605Asp)
c.60858A>T (p.Glu20286Asp)
c.56256A>T (p.Glu18752Asp)
c.56253A>T (p.Glu18751Asp)
c.53295A>T (p.Glu17765Asp)
c.34911A>T (p.Glu11637Asp)
c.56406A>T (p.Glu18802Asp)
c.56403A>T (p.Glu18801Asp)
c.55836A>T (p.Glu18612Asp)
c.53178A>T (p.Glu17726Asp)
c.53097A>T (p.Glu17699Asp)
c.34860A>T (p.Glu11620Asp)
c.24714A>T (p.Glu8238Asp)
2g.178589760T>CCA430265709TTN,TTN-AS1c.54261A>G (p.Glu18087=)
c.35346A>G (p.Glu11782=)
c.35145A>G (p.Glu11715=)
c.34770A>G (p.Glu11590=)
c.61965A>G (p.Glu20655=)
c.57042A>G (p.Glu19014=)
n.597-7836T>C
n.3189-1379T>C
c.61062A>G (p.Glu20354=)
c.34956A>G (p.Glu11652=)
c.34815A>G (p.Glu11605=)
c.60858A>G (p.Glu20286=)
c.56256A>G (p.Glu18752=)
c.56253A>G (p.Glu18751=)
c.53295A>G (p.Glu17765=)
c.34911A>G (p.Glu11637=)
c.56406A>G (p.Glu18802=)
c.56403A>G (p.Glu18801=)
c.55836A>G (p.Glu18612=)
c.53178A>G (p.Glu17726=)
c.53097A>G (p.Glu17699=)
c.34860A>G (p.Glu11620=)
c.24714A>G (p.Glu8238=)
2g.178589760T>GCA349467006TTN,TTN-AS1c.54261A>C (p.Glu18087Asp)
c.35346A>C (p.Glu11782Asp)
c.35145A>C (p.Glu11715Asp)
c.34770A>C (p.Glu11590Asp)
c.61965A>C (p.Glu20655Asp)
c.57042A>C (p.Glu19014Asp)
n.597-7836T>G
n.3189-1379T>G
c.61062A>C (p.Glu20354Asp)
c.34956A>C (p.Glu11652Asp)
c.34815A>C (p.Glu11605Asp)
c.60858A>C (p.Glu20286Asp)
c.56256A>C (p.Glu18752Asp)
c.56253A>C (p.Glu18751Asp)
c.53295A>C (p.Glu17765Asp)
c.34911A>C (p.Glu11637Asp)
c.56406A>C (p.Glu18802Asp)
c.56403A>C (p.Glu18801Asp)
c.55836A>C (p.Glu18612Asp)
c.53178A>C (p.Glu17726Asp)
c.53097A>C (p.Glu17699Asp)
c.34860A>C (p.Glu11620Asp)
c.24714A>C (p.Glu8238Asp)
2g.178589761T>ACA349467009TTN,TTN-AS1c.54260A>T (p.Glu18087Val)
c.35345A>T (p.Glu11782Val)
c.35144A>T (p.Glu11715Val)
c.34769A>T (p.Glu11590Val)
c.61964A>T (p.Glu20655Val)
c.57041A>T (p.Glu19014Val)
n.597-7835T>A
n.3189-1378T>A
c.61061A>T (p.Glu20354Val)
c.34955A>T (p.Glu11652Val)
c.34814A>T (p.Glu11605Val)
c.60857A>T (p.Glu20286Val)
c.56255A>T (p.Glu18752Val)
c.56252A>T (p.Glu18751Val)
c.53294A>T (p.Glu17765Val)
c.34910A>T (p.Glu11637Val)
c.56405A>T (p.Glu18802Val)
c.56402A>T (p.Glu18801Val)
c.55835A>T (p.Glu18612Val)
c.53177A>T (p.Glu17726Val)
c.53096A>T (p.Glu17699Val)
c.34859A>T (p.Glu11620Val)
c.24713A>T (p.Glu8238Val)
2g.178589761T>CCA349467011TTN,TTN-AS1c.54260A>G (p.Glu18087Gly)
c.35345A>G (p.Glu11782Gly)
c.35144A>G (p.Glu11715Gly)
c.34769A>G (p.Glu11590Gly)
c.61964A>G (p.Glu20655Gly)
c.57041A>G (p.Glu19014Gly)
n.597-7835T>C
n.3189-1378T>C
c.61061A>G (p.Glu20354Gly)
c.34955A>G (p.Glu11652Gly)
c.34814A>G (p.Glu11605Gly)
c.60857A>G (p.Glu20286Gly)
c.56255A>G (p.Glu18752Gly)
c.56252A>G (p.Glu18751Gly)
c.53294A>G (p.Glu17765Gly)
c.34910A>G (p.Glu11637Gly)
c.56405A>G (p.Glu18802Gly)
c.56402A>G (p.Glu18801Gly)
c.55835A>G (p.Glu18612Gly)
c.53177A>G (p.Glu17726Gly)
c.53096A>G (p.Glu17699Gly)
c.34859A>G (p.Glu11620Gly)
c.24713A>G (p.Glu8238Gly)
2g.178589761T>GCA349467012TTN,TTN-AS1c.54260A>C (p.Glu18087Ala)
c.35345A>C (p.Glu11782Ala)
c.35144A>C (p.Glu11715Ala)
c.34769A>C (p.Glu11590Ala)
c.61964A>C (p.Glu20655Ala)
c.57041A>C (p.Glu19014Ala)
n.597-7835T>G
n.3189-1378T>G
c.61061A>C (p.Glu20354Ala)
c.34955A>C (p.Glu11652Ala)
c.34814A>C (p.Glu11605Ala)
c.60857A>C (p.Glu20286Ala)
c.56255A>C (p.Glu18752Ala)
c.56252A>C (p.Glu18751Ala)
c.53294A>C (p.Glu17765Ala)
c.34910A>C (p.Glu11637Ala)
c.56405A>C (p.Glu18802Ala)
c.56402A>C (p.Glu18801Ala)
c.55835A>C (p.Glu18612Ala)
c.53177A>C (p.Glu17726Ala)
c.53096A>C (p.Glu17699Ala)
c.34859A>C (p.Glu11620Ala)
c.24713A>C (p.Glu8238Ala)
2g.178589762C>ACA349467018TTN,TTN-AS1c.54259G>T (p.Glu18087Ter)
c.35344G>T (p.Glu11782Ter)
c.35143G>T (p.Glu11715Ter)
c.34768G>T (p.Glu11590Ter)
c.61963G>T (p.Glu20655Ter)
c.57040G>T (p.Glu19014Ter)
n.597-7834C>A
n.3189-1377C>A
c.61060G>T (p.Glu20354Ter)
c.34954G>T (p.Glu11652Ter)
c.34813G>T (p.Glu11605Ter)
c.60856G>T (p.Glu20286Ter)
c.56254G>T (p.Glu18752Ter)
c.56251G>T (p.Glu18751Ter)
c.53293G>T (p.Glu17765Ter)
c.34909G>T (p.Glu11637Ter)
c.56404G>T (p.Glu18802Ter)
c.56401G>T (p.Glu18801Ter)
c.55834G>T (p.Glu18612Ter)
c.53176G>T (p.Glu17726Ter)
c.53095G>T (p.Glu17699Ter)
c.34858G>T (p.Glu11620Ter)
c.24712G>T (p.Glu8238Ter)
2g.178589762C=CA1310538622TTN,TTN-AS1c.54259G= (p.Glu18087=)
c.35344G= (p.Glu11782=)
c.35143G= (p.Glu11715=)
c.34768G= (p.Glu11590=)
c.61963G= (p.Glu20655=)
c.57040G= (p.Glu19014=)
n.597-7834C=
n.3189-1377C=
c.61060G= (p.Glu20354=)
c.34954G= (p.Glu11652=)
c.34813G= (p.Glu11605=)
c.60856G= (p.Glu20286=)
c.56254G= (p.Glu18752=)
c.56251G= (p.Glu18751=)
c.53293G= (p.Glu17765=)
c.34909G= (p.Glu11637=)
c.56404G= (p.Glu18802=)
c.56401G= (p.Glu18801=)
c.55834G= (p.Glu18612=)
c.53176G= (p.Glu17726=)
c.53095G= (p.Glu17699=)
c.34858G= (p.Glu11620=)
c.24712G= (p.Glu8238=)
2g.178589762C>GCA349467016TTN,TTN-AS1c.54259G>C (p.Glu18087Gln)
c.35344G>C (p.Glu11782Gln)
c.35143G>C (p.Glu11715Gln)
c.34768G>C (p.Glu11590Gln)
c.61963G>C (p.Glu20655Gln)
c.57040G>C (p.Glu19014Gln)
n.597-7834C>G
n.3189-1377C>G
c.61060G>C (p.Glu20354Gln)
c.34954G>C (p.Glu11652Gln)
c.34813G>C (p.Glu11605Gln)
c.60856G>C (p.Glu20286Gln)
c.56254G>C (p.Glu18752Gln)
c.56251G>C (p.Glu18751Gln)
c.53293G>C (p.Glu17765Gln)
c.34909G>C (p.Glu11637Gln)
c.56404G>C (p.Glu18802Gln)
c.56401G>C (p.Glu18801Gln)
c.55834G>C (p.Glu18612Gln)
c.53176G>C (p.Glu17726Gln)
c.53095G>C (p.Glu17699Gln)
c.34858G>C (p.Glu11620Gln)
c.24712G>C (p.Glu8238Gln)
2g.178589762C>TCA1992288TTN,TTN-AS1c.54259G>A (p.Glu18087Lys)
c.35344G>A (p.Glu11782Lys)
c.35143G>A (p.Glu11715Lys)
c.34768G>A (p.Glu11590Lys)
c.61963G>A (p.Glu20655Lys)
c.57040G>A (p.Glu19014Lys)
n.597-7834C>T
n.3189-1377C>T
c.61060G>A (p.Glu20354Lys)
c.34954G>A (p.Glu11652Lys)
c.34813G>A (p.Glu11605Lys)
c.60856G>A (p.Glu20286Lys)
c.56254G>A (p.Glu18752Lys)
c.56251G>A (p.Glu18751Lys)
c.53293G>A (p.Glu17765Lys)
c.34909G>A (p.Glu11637Lys)
c.56404G>A (p.Glu18802Lys)
c.56401G>A (p.Glu18801Lys)
c.55834G>A (p.Glu18612Lys)
c.53176G>A (p.Glu17726Lys)
c.53095G>A (p.Glu17699Lys)
c.34858G>A (p.Glu11620Lys)
c.24712G>A (p.Glu8238Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178589763G>ACA1992289TTN,TTN-AS1c.54258C>T (p.Ile18086=)
c.35343C>T (p.Ile11781=)
c.35142C>T (p.Ile11714=)
c.34767C>T (p.Ile11589=)
c.61962C>T (p.Ile20654=)
c.57039C>T (p.Ile19013=)
n.597-7833G>A
n.3189-1376G>A
c.61059C>T (p.Ile20353=)
c.34953C>T (p.Ile11651=)
c.34812C>T (p.Ile11604=)
c.60855C>T (p.Ile20285=)
c.56253C>T (p.Ile18751=)
c.56250C>T (p.Ile18750=)
c.53292C>T (p.Ile17764=)
c.34908C>T (p.Ile11636=)
c.56403C>T (p.Ile18801=)
c.56400C>T (p.Ile18800=)
c.55833C>T (p.Ile18611=)
c.53175C>T (p.Ile17725=)
c.53094C>T (p.Ile17698=)
c.34857C>T (p.Ile11619=)
c.24711C>T (p.Ile8237=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178589763G>CCA349467023TTN,TTN-AS1c.54258C>G (p.Ile18086Met)
c.35343C>G (p.Ile11781Met)
c.35142C>G (p.Ile11714Met)
c.34767C>G (p.Ile11589Met)
c.61962C>G (p.Ile20654Met)
c.57039C>G (p.Ile19013Met)
n.597-7833G>C
n.3189-1376G>C
c.61059C>G (p.Ile20353Met)
c.34953C>G (p.Ile11651Met)
c.34812C>G (p.Ile11604Met)
c.60855C>G (p.Ile20285Met)
c.56253C>G (p.Ile18751Met)
c.56250C>G (p.Ile18750Met)
c.53292C>G (p.Ile17764Met)
c.34908C>G (p.Ile11636Met)
c.56403C>G (p.Ile18801Met)
c.56400C>G (p.Ile18800Met)
c.55833C>G (p.Ile18611Met)
c.53175C>G (p.Ile17725Met)
c.53094C>G (p.Ile17698Met)
c.34857C>G (p.Ile11619Met)
c.24711C>G (p.Ile8237Met)
2g.178589763G=CA1310538623TTN,TTN-AS1c.54258C= (p.Ile18086=)
c.35343C= (p.Ile11781=)
c.35142C= (p.Ile11714=)
c.34767C= (p.Ile11589=)
c.61962C= (p.Ile20654=)
c.57039C= (p.Ile19013=)
n.597-7833G=
n.3189-1376G=
c.61059C= (p.Ile20353=)
c.34953C= (p.Ile11651=)
c.34812C= (p.Ile11604=)
c.60855C= (p.Ile20285=)
c.56253C= (p.Ile18751=)
c.56250C= (p.Ile18750=)
c.53292C= (p.Ile17764=)
c.34908C= (p.Ile11636=)
c.56403C= (p.Ile18801=)
c.56400C= (p.Ile18800=)
c.55833C= (p.Ile18611=)
c.53175C= (p.Ile17725=)
c.53094C= (p.Ile17698=)
c.34857C= (p.Ile11619=)
c.24711C= (p.Ile8237=)
2g.178589763G>TCA430265712TTN,TTN-AS1c.54258C>A (p.Ile18086=)
c.35343C>A (p.Ile11781=)
c.35142C>A (p.Ile11714=)
c.34767C>A (p.Ile11589=)
c.61962C>A (p.Ile20654=)
c.57039C>A (p.Ile19013=)
n.597-7833G>T
n.3189-1376G>T
c.61059C>A (p.Ile20353=)
c.34953C>A (p.Ile11651=)
c.34812C>A (p.Ile11604=)
c.60855C>A (p.Ile20285=)
c.56253C>A (p.Ile18751=)
c.56250C>A (p.Ile18750=)
c.53292C>A (p.Ile17764=)
c.34908C>A (p.Ile11636=)
c.56403C>A (p.Ile18801=)
c.56400C>A (p.Ile18800=)
c.55833C>A (p.Ile18611=)
c.53175C>A (p.Ile17725=)
c.53094C>A (p.Ile17698=)
c.34857C>A (p.Ile11619=)
c.24711C>A (p.Ile8237=)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178589764A=CA1310538624TTN,TTN-AS1c.54257T= (p.Ile18086=)
c.35342T= (p.Ile11781=)
c.35141T= (p.Ile11714=)
c.34766T= (p.Ile11589=)
c.61961T= (p.Ile20654=)
c.57038T= (p.Ile19013=)
n.597-7832A=
n.3189-1375A=
c.61058T= (p.Ile20353=)
c.34952T= (p.Ile11651=)
c.34811T= (p.Ile11604=)
c.60854T= (p.Ile20285=)
c.56252T= (p.Ile18751=)
c.56249T= (p.Ile18750=)
c.53291T= (p.Ile17764=)
c.34907T= (p.Ile11636=)
c.56402T= (p.Ile18801=)
c.56399T= (p.Ile18800=)
c.55832T= (p.Ile18611=)
c.53174T= (p.Ile17725=)
c.53093T= (p.Ile17698=)
c.34856T= (p.Ile11619=)
c.24710T= (p.Ile8237=)

Number of alleles fetched