Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178546299A=CA1310522957TTN,TTN-AS1c.87328T= (p.Cys29110=)
c.68413T= (p.Cys22805=)
c.68212T= (p.Cys22738=)
c.67837T= (p.Cys22613=)
c.95032T= (p.Cys31678=)
c.90109T= (p.Cys30037=)
n.446+22663A=
n.2043+3938A=
c.94129T= (p.Cys31377=)
c.68023T= (p.Cys22675=)
c.67882T= (p.Cys22628=)
c.93925T= (p.Cys31309=)
c.89323T= (p.Cys29775=)
c.89320T= (p.Cys29774=)
c.86362T= (p.Cys28788=)
c.67978T= (p.Cys22660=)
c.89473T= (p.Cys29825=)
c.89470T= (p.Cys29824=)
c.88903T= (p.Cys29635=)
c.86245T= (p.Cys28749=)
c.86164T= (p.Cys28722=)
c.67927T= (p.Cys22643=)
c.57781T= (p.Cys19261=)
2g.178546299A>CCA16617336TTN,TTN-AS1c.87328T>G (p.Cys29110Gly)
c.68413T>G (p.Cys22805Gly)
c.68212T>G (p.Cys22738Gly)
c.67837T>G (p.Cys22613Gly)
c.95032T>G (p.Cys31678Gly)
c.90109T>G (p.Cys30037Gly)
n.446+22663A>C
n.2043+3938A>C
c.94129T>G (p.Cys31377Gly)
c.68023T>G (p.Cys22675Gly)
c.67882T>G (p.Cys22628Gly)
c.93925T>G (p.Cys31309Gly)
c.89323T>G (p.Cys29775Gly)
c.89320T>G (p.Cys29774Gly)
c.86362T>G (p.Cys28788Gly)
c.67978T>G (p.Cys22660Gly)
c.89473T>G (p.Cys29825Gly)
c.89470T>G (p.Cys29824Gly)
c.88903T>G (p.Cys29635Gly)
c.86245T>G (p.Cys28749Gly)
c.86164T>G (p.Cys28722Gly)
c.67927T>G (p.Cys22643Gly)
c.57781T>G (p.Cys19261Gly)
 ClinVar dbSNP
2g.178546299A>GCA60972295TTN,TTN-AS1c.87328T>C (p.Cys29110Arg)
c.68413T>C (p.Cys22805Arg)
c.68212T>C (p.Cys22738Arg)
c.67837T>C (p.Cys22613Arg)
c.95032T>C (p.Cys31678Arg)
c.90109T>C (p.Cys30037Arg)
n.446+22663A>G
n.2043+3938A>G
c.94129T>C (p.Cys31377Arg)
c.68023T>C (p.Cys22675Arg)
c.67882T>C (p.Cys22628Arg)
c.93925T>C (p.Cys31309Arg)
c.89323T>C (p.Cys29775Arg)
c.89320T>C (p.Cys29774Arg)
c.86362T>C (p.Cys28788Arg)
c.67978T>C (p.Cys22660Arg)
c.89473T>C (p.Cys29825Arg)
c.89470T>C (p.Cys29824Arg)
c.88903T>C (p.Cys29635Arg)
c.86245T>C (p.Cys28749Arg)
c.86164T>C (p.Cys28722Arg)
c.67927T>C (p.Cys22643Arg)
c.57781T>C (p.Cys19261Arg)
 dbSNP gnomAD v4
2g.178546299A>TCA349467373TTN,TTN-AS1c.87328T>A (p.Cys29110Ser)
c.68413T>A (p.Cys22805Ser)
c.68212T>A (p.Cys22738Ser)
c.67837T>A (p.Cys22613Ser)
c.95032T>A (p.Cys31678Ser)
c.90109T>A (p.Cys30037Ser)
n.446+22663A>T
n.2043+3938A>T
c.94129T>A (p.Cys31377Ser)
c.68023T>A (p.Cys22675Ser)
c.67882T>A (p.Cys22628Ser)
c.93925T>A (p.Cys31309Ser)
c.89323T>A (p.Cys29775Ser)
c.89320T>A (p.Cys29774Ser)
c.86362T>A (p.Cys28788Ser)
c.67978T>A (p.Cys22660Ser)
c.89473T>A (p.Cys29825Ser)
c.89470T>A (p.Cys29824Ser)
c.88903T>A (p.Cys29635Ser)
c.86245T>A (p.Cys28749Ser)
c.86164T>A (p.Cys28722Ser)
c.67927T>A (p.Cys22643Ser)
c.57781T>A (p.Cys19261Ser)
2g.178546300G>ACA430242227TTN,TTN-AS1c.87327C>T (p.Phe29109=)
c.68412C>T (p.Phe22804=)
c.68211C>T (p.Phe22737=)
c.67836C>T (p.Phe22612=)
c.95031C>T (p.Phe31677=)
c.90108C>T (p.Phe30036=)
n.446+22664G>A
n.2043+3939G>A
c.94128C>T (p.Phe31376=)
c.68022C>T (p.Phe22674=)
c.67881C>T (p.Phe22627=)
c.93924C>T (p.Phe31308=)
c.89322C>T (p.Phe29774=)
c.89319C>T (p.Phe29773=)
c.86361C>T (p.Phe28787=)
c.67977C>T (p.Phe22659=)
c.89472C>T (p.Phe29824=)
c.89469C>T (p.Phe29823=)
c.88902C>T (p.Phe29634=)
c.86244C>T (p.Phe28748=)
c.86163C>T (p.Phe28721=)
c.67926C>T (p.Phe22642=)
c.57780C>T (p.Phe19260=)
2g.178546300G>CCA349467377TTN,TTN-AS1c.87327C>G (p.Phe29109Leu)
c.68412C>G (p.Phe22804Leu)
c.68211C>G (p.Phe22737Leu)
c.67836C>G (p.Phe22612Leu)
c.95031C>G (p.Phe31677Leu)
c.90108C>G (p.Phe30036Leu)
n.446+22664G>C
n.2043+3939G>C
c.94128C>G (p.Phe31376Leu)
c.68022C>G (p.Phe22674Leu)
c.67881C>G (p.Phe22627Leu)
c.93924C>G (p.Phe31308Leu)
c.89322C>G (p.Phe29774Leu)
c.89319C>G (p.Phe29773Leu)
c.86361C>G (p.Phe28787Leu)
c.67977C>G (p.Phe22659Leu)
c.89472C>G (p.Phe29824Leu)
c.89469C>G (p.Phe29823Leu)
c.88902C>G (p.Phe29634Leu)
c.86244C>G (p.Phe28748Leu)
c.86163C>G (p.Phe28721Leu)
c.67926C>G (p.Phe22642Leu)
c.57780C>G (p.Phe19260Leu)
2g.178546300G>TCA349467378TTN,TTN-AS1c.87327C>A (p.Phe29109Leu)
c.68412C>A (p.Phe22804Leu)
c.68211C>A (p.Phe22737Leu)
c.67836C>A (p.Phe22612Leu)
c.95031C>A (p.Phe31677Leu)
c.90108C>A (p.Phe30036Leu)
n.446+22664G>T
n.2043+3939G>T
c.94128C>A (p.Phe31376Leu)
c.68022C>A (p.Phe22674Leu)
c.67881C>A (p.Phe22627Leu)
c.93924C>A (p.Phe31308Leu)
c.89322C>A (p.Phe29774Leu)
c.89319C>A (p.Phe29773Leu)
c.86361C>A (p.Phe28787Leu)
c.67977C>A (p.Phe22659Leu)
c.89472C>A (p.Phe29824Leu)
c.89469C>A (p.Phe29823Leu)
c.88902C>A (p.Phe29634Leu)
c.86244C>A (p.Phe28748Leu)
c.86163C>A (p.Phe28721Leu)
c.67926C>A (p.Phe22642Leu)
c.57780C>A (p.Phe19260Leu)
 gnomAD v4
2g.178546301A>CCA349467380TTN,TTN-AS1c.87326T>G (p.Phe29109Cys)
c.68411T>G (p.Phe22804Cys)
c.68210T>G (p.Phe22737Cys)
c.67835T>G (p.Phe22612Cys)
c.95030T>G (p.Phe31677Cys)
c.90107T>G (p.Phe30036Cys)
n.446+22665A>C
n.2043+3940A>C
c.94127T>G (p.Phe31376Cys)
c.68021T>G (p.Phe22674Cys)
c.67880T>G (p.Phe22627Cys)
c.93923T>G (p.Phe31308Cys)
c.89321T>G (p.Phe29774Cys)
c.89318T>G (p.Phe29773Cys)
c.86360T>G (p.Phe28787Cys)
c.67976T>G (p.Phe22659Cys)
c.89471T>G (p.Phe29824Cys)
c.89468T>G (p.Phe29823Cys)
c.88901T>G (p.Phe29634Cys)
c.86243T>G (p.Phe28748Cys)
c.86162T>G (p.Phe28721Cys)
c.67925T>G (p.Phe22642Cys)
c.57779T>G (p.Phe19260Cys)
2g.178546301A>GCA349467382TTN,TTN-AS1c.87326T>C (p.Phe29109Ser)
c.68411T>C (p.Phe22804Ser)
c.68210T>C (p.Phe22737Ser)
c.67835T>C (p.Phe22612Ser)
c.95030T>C (p.Phe31677Ser)
c.90107T>C (p.Phe30036Ser)
n.446+22665A>G
n.2043+3940A>G
c.94127T>C (p.Phe31376Ser)
c.68021T>C (p.Phe22674Ser)
c.67880T>C (p.Phe22627Ser)
c.93923T>C (p.Phe31308Ser)
c.89321T>C (p.Phe29774Ser)
c.89318T>C (p.Phe29773Ser)
c.86360T>C (p.Phe28787Ser)
c.67976T>C (p.Phe22659Ser)
c.89471T>C (p.Phe29824Ser)
c.89468T>C (p.Phe29823Ser)
c.88901T>C (p.Phe29634Ser)
c.86243T>C (p.Phe28748Ser)
c.86162T>C (p.Phe28721Ser)
c.67925T>C (p.Phe22642Ser)
c.57779T>C (p.Phe19260Ser)
 gnomAD v4
2g.178546301A>TCA349467383TTN,TTN-AS1c.87326T>A (p.Phe29109Tyr)
c.68411T>A (p.Phe22804Tyr)
c.68210T>A (p.Phe22737Tyr)
c.67835T>A (p.Phe22612Tyr)
c.95030T>A (p.Phe31677Tyr)
c.90107T>A (p.Phe30036Tyr)
n.446+22665A>T
n.2043+3940A>T
c.94127T>A (p.Phe31376Tyr)
c.68021T>A (p.Phe22674Tyr)
c.67880T>A (p.Phe22627Tyr)
c.93923T>A (p.Phe31308Tyr)
c.89321T>A (p.Phe29774Tyr)
c.89318T>A (p.Phe29773Tyr)
c.86360T>A (p.Phe28787Tyr)
c.67976T>A (p.Phe22659Tyr)
c.89471T>A (p.Phe29824Tyr)
c.89468T>A (p.Phe29823Tyr)
c.88901T>A (p.Phe29634Tyr)
c.86243T>A (p.Phe28748Tyr)
c.86162T>A (p.Phe28721Tyr)
c.67925T>A (p.Phe22642Tyr)
c.57779T>A (p.Phe19260Tyr)
2g.178546302A=CA1310522959TTN,TTN-AS1c.87325T= (p.Phe29109=)
c.68410T= (p.Phe22804=)
c.68209T= (p.Phe22737=)
c.67834T= (p.Phe22612=)
c.95029T= (p.Phe31677=)
c.90106T= (p.Phe30036=)
n.446+22666A=
n.2043+3941A=
c.94126T= (p.Phe31376=)
c.68020T= (p.Phe22674=)
c.67879T= (p.Phe22627=)
c.93922T= (p.Phe31308=)
c.89320T= (p.Phe29774=)
c.89317T= (p.Phe29773=)
c.86359T= (p.Phe28787=)
c.67975T= (p.Phe22659=)
c.89470T= (p.Phe29824=)
c.89467T= (p.Phe29823=)
c.88900T= (p.Phe29634=)
c.86242T= (p.Phe28748=)
c.86161T= (p.Phe28721=)
c.67924T= (p.Phe22642=)
c.57778T= (p.Phe19260=)
2g.178546302A>CCA349467395TTN,TTN-AS1c.87325T>G (p.Phe29109Val)
c.68410T>G (p.Phe22804Val)
c.68209T>G (p.Phe22737Val)
c.67834T>G (p.Phe22612Val)
c.95029T>G (p.Phe31677Val)
c.90106T>G (p.Phe30036Val)
n.446+22666A>C
n.2043+3941A>C
c.94126T>G (p.Phe31376Val)
c.68020T>G (p.Phe22674Val)
c.67879T>G (p.Phe22627Val)
c.93922T>G (p.Phe31308Val)
c.89320T>G (p.Phe29774Val)
c.89317T>G (p.Phe29773Val)
c.86359T>G (p.Phe28787Val)
c.67975T>G (p.Phe22659Val)
c.89470T>G (p.Phe29824Val)
c.89467T>G (p.Phe29823Val)
c.88900T>G (p.Phe29634Val)
c.86242T>G (p.Phe28748Val)
c.86161T>G (p.Phe28721Val)
c.67924T>G (p.Phe22642Val)
c.57778T>G (p.Phe19260Val)
2g.178546302A>GCA349467394TTN,TTN-AS1c.87325T>C (p.Phe29109Leu)
c.68410T>C (p.Phe22804Leu)
c.68209T>C (p.Phe22737Leu)
c.67834T>C (p.Phe22612Leu)
c.95029T>C (p.Phe31677Leu)
c.90106T>C (p.Phe30036Leu)
n.446+22666A>G
n.2043+3941A>G
c.94126T>C (p.Phe31376Leu)
c.68020T>C (p.Phe22674Leu)
c.67879T>C (p.Phe22627Leu)
c.93922T>C (p.Phe31308Leu)
c.89320T>C (p.Phe29774Leu)
c.89317T>C (p.Phe29773Leu)
c.86359T>C (p.Phe28787Leu)
c.67975T>C (p.Phe22659Leu)
c.89470T>C (p.Phe29824Leu)
c.89467T>C (p.Phe29823Leu)
c.88900T>C (p.Phe29634Leu)
c.86242T>C (p.Phe28748Leu)
c.86161T>C (p.Phe28721Leu)
c.67924T>C (p.Phe22642Leu)
c.57778T>C (p.Phe19260Leu)
 ClinVar dbSNP gnomAD v4
2g.178546302A>TCA349467389TTN,TTN-AS1c.87325T>A (p.Phe29109Ile)
c.68410T>A (p.Phe22804Ile)
c.68209T>A (p.Phe22737Ile)
c.67834T>A (p.Phe22612Ile)
c.95029T>A (p.Phe31677Ile)
c.90106T>A (p.Phe30036Ile)
n.446+22666A>T
n.2043+3941A>T
c.94126T>A (p.Phe31376Ile)
c.68020T>A (p.Phe22674Ile)
c.67879T>A (p.Phe22627Ile)
c.93922T>A (p.Phe31308Ile)
c.89320T>A (p.Phe29774Ile)
c.89317T>A (p.Phe29773Ile)
c.86359T>A (p.Phe28787Ile)
c.67975T>A (p.Phe22659Ile)
c.89470T>A (p.Phe29824Ile)
c.89467T>A (p.Phe29823Ile)
c.88900T>A (p.Phe29634Ile)
c.86242T>A (p.Phe28748Ile)
c.86161T>A (p.Phe28721Ile)
c.67924T>A (p.Phe22642Ile)
c.57778T>A (p.Phe19260Ile)
2g.178546303C>ACA349467397TTN,TTN-AS1c.87324G>T (p.Lys29108Asn)
c.68409G>T (p.Lys22803Asn)
c.68208G>T (p.Lys22736Asn)
c.67833G>T (p.Lys22611Asn)
c.95028G>T (p.Lys31676Asn)
c.90105G>T (p.Lys30035Asn)
n.446+22667C>A
n.2043+3942C>A
c.94125G>T (p.Lys31375Asn)
c.68019G>T (p.Lys22673Asn)
c.67878G>T (p.Lys22626Asn)
c.93921G>T (p.Lys31307Asn)
c.89319G>T (p.Lys29773Asn)
c.89316G>T (p.Lys29772Asn)
c.86358G>T (p.Lys28786Asn)
c.67974G>T (p.Lys22658Asn)
c.89469G>T (p.Lys29823Asn)
c.89466G>T (p.Lys29822Asn)
c.88899G>T (p.Lys29633Asn)
c.86241G>T (p.Lys28747Asn)
c.86160G>T (p.Lys28720Asn)
c.67923G>T (p.Lys22641Asn)
c.57777G>T (p.Lys19259Asn)
2g.178546303C>GCA349467424TTN,TTN-AS1c.87324G>C (p.Lys29108Asn)
c.68409G>C (p.Lys22803Asn)
c.68208G>C (p.Lys22736Asn)
c.67833G>C (p.Lys22611Asn)
c.95028G>C (p.Lys31676Asn)
c.90105G>C (p.Lys30035Asn)
n.446+22667C>G
n.2043+3942C>G
c.94125G>C (p.Lys31375Asn)
c.68019G>C (p.Lys22673Asn)
c.67878G>C (p.Lys22626Asn)
c.93921G>C (p.Lys31307Asn)
c.89319G>C (p.Lys29773Asn)
c.89316G>C (p.Lys29772Asn)
c.86358G>C (p.Lys28786Asn)
c.67974G>C (p.Lys22658Asn)
c.89469G>C (p.Lys29823Asn)
c.89466G>C (p.Lys29822Asn)
c.88899G>C (p.Lys29633Asn)
c.86241G>C (p.Lys28747Asn)
c.86160G>C (p.Lys28720Asn)
c.67923G>C (p.Lys22641Asn)
c.57777G>C (p.Lys19259Asn)
2g.178546303C>TCA430242231TTN,TTN-AS1c.87324G>A (p.Lys29108=)
c.68409G>A (p.Lys22803=)
c.68208G>A (p.Lys22736=)
c.67833G>A (p.Lys22611=)
c.95028G>A (p.Lys31676=)
c.90105G>A (p.Lys30035=)
n.446+22667C>T
n.2043+3942C>T
c.94125G>A (p.Lys31375=)
c.68019G>A (p.Lys22673=)
c.67878G>A (p.Lys22626=)
c.93921G>A (p.Lys31307=)
c.89319G>A (p.Lys29773=)
c.89316G>A (p.Lys29772=)
c.86358G>A (p.Lys28786=)
c.67974G>A (p.Lys22658=)
c.89469G>A (p.Lys29823=)
c.89466G>A (p.Lys29822=)
c.88899G>A (p.Lys29633=)
c.86241G>A (p.Lys28747=)
c.86160G>A (p.Lys28720=)
c.67923G>A (p.Lys22641=)
c.57777G>A (p.Lys19259=)
2g.178546304T>ACA349467427TTN,TTN-AS1c.87323A>T (p.Lys29108Met)
c.68408A>T (p.Lys22803Met)
c.68207A>T (p.Lys22736Met)
c.67832A>T (p.Lys22611Met)
c.95027A>T (p.Lys31676Met)
c.90104A>T (p.Lys30035Met)
n.446+22668T>A
n.2043+3943T>A
c.94124A>T (p.Lys31375Met)
c.68018A>T (p.Lys22673Met)
c.67877A>T (p.Lys22626Met)
c.93920A>T (p.Lys31307Met)
c.89318A>T (p.Lys29773Met)
c.89315A>T (p.Lys29772Met)
c.86357A>T (p.Lys28786Met)
c.67973A>T (p.Lys22658Met)
c.89468A>T (p.Lys29823Met)
c.89465A>T (p.Lys29822Met)
c.88898A>T (p.Lys29633Met)
c.86240A>T (p.Lys28747Met)
c.86159A>T (p.Lys28720Met)
c.67922A>T (p.Lys22641Met)
c.57776A>T (p.Lys19259Met)
2g.178546304T>CCA349467431TTN,TTN-AS1c.87323A>G (p.Lys29108Arg)
c.68408A>G (p.Lys22803Arg)
c.68207A>G (p.Lys22736Arg)
c.67832A>G (p.Lys22611Arg)
c.95027A>G (p.Lys31676Arg)
c.90104A>G (p.Lys30035Arg)
n.446+22668T>C
n.2043+3943T>C
c.94124A>G (p.Lys31375Arg)
c.68018A>G (p.Lys22673Arg)
c.67877A>G (p.Lys22626Arg)
c.93920A>G (p.Lys31307Arg)
c.89318A>G (p.Lys29773Arg)
c.89315A>G (p.Lys29772Arg)
c.86357A>G (p.Lys28786Arg)
c.67973A>G (p.Lys22658Arg)
c.89468A>G (p.Lys29823Arg)
c.89465A>G (p.Lys29822Arg)
c.88898A>G (p.Lys29633Arg)
c.86240A>G (p.Lys28747Arg)
c.86159A>G (p.Lys28720Arg)
c.67922A>G (p.Lys22641Arg)
c.57776A>G (p.Lys19259Arg)
2g.178546304T>GCA349467434TTN,TTN-AS1c.87323A>C (p.Lys29108Thr)
c.68408A>C (p.Lys22803Thr)
c.68207A>C (p.Lys22736Thr)
c.67832A>C (p.Lys22611Thr)
c.95027A>C (p.Lys31676Thr)
c.90104A>C (p.Lys30035Thr)
n.446+22668T>G
n.2043+3943T>G
c.94124A>C (p.Lys31375Thr)
c.68018A>C (p.Lys22673Thr)
c.67877A>C (p.Lys22626Thr)
c.93920A>C (p.Lys31307Thr)
c.89318A>C (p.Lys29773Thr)
c.89315A>C (p.Lys29772Thr)
c.86357A>C (p.Lys28786Thr)
c.67973A>C (p.Lys22658Thr)
c.89468A>C (p.Lys29823Thr)
c.89465A>C (p.Lys29822Thr)
c.88898A>C (p.Lys29633Thr)
c.86240A>C (p.Lys28747Thr)
c.86159A>C (p.Lys28720Thr)
c.67922A>C (p.Lys22641Thr)
c.57776A>C (p.Lys19259Thr)
 gnomAD v4
2g.178546305T>ACA349467457TTN,TTN-AS1c.87322A>T (p.Lys29108Ter)
c.68407A>T (p.Lys22803Ter)
c.68206A>T (p.Lys22736Ter)
c.67831A>T (p.Lys22611Ter)
c.95026A>T (p.Lys31676Ter)
c.90103A>T (p.Lys30035Ter)
n.446+22669T>A
n.2043+3944T>A
c.94123A>T (p.Lys31375Ter)
c.68017A>T (p.Lys22673Ter)
c.67876A>T (p.Lys22626Ter)
c.93919A>T (p.Lys31307Ter)
c.89317A>T (p.Lys29773Ter)
c.89314A>T (p.Lys29772Ter)
c.86356A>T (p.Lys28786Ter)
c.67972A>T (p.Lys22658Ter)
c.89467A>T (p.Lys29823Ter)
c.89464A>T (p.Lys29822Ter)
c.88897A>T (p.Lys29633Ter)
c.86239A>T (p.Lys28747Ter)
c.86158A>T (p.Lys28720Ter)
c.67921A>T (p.Lys22641Ter)
c.57775A>T (p.Lys19259Ter)
2g.178546305T>CCA349467461TTN,TTN-AS1c.87322A>G (p.Lys29108Glu)
c.68407A>G (p.Lys22803Glu)
c.68206A>G (p.Lys22736Glu)
c.67831A>G (p.Lys22611Glu)
c.95026A>G (p.Lys31676Glu)
c.90103A>G (p.Lys30035Glu)
n.446+22669T>C
n.2043+3944T>C
c.94123A>G (p.Lys31375Glu)
c.68017A>G (p.Lys22673Glu)
c.67876A>G (p.Lys22626Glu)
c.93919A>G (p.Lys31307Glu)
c.89317A>G (p.Lys29773Glu)
c.89314A>G (p.Lys29772Glu)
c.86356A>G (p.Lys28786Glu)
c.67972A>G (p.Lys22658Glu)
c.89467A>G (p.Lys29823Glu)
c.89464A>G (p.Lys29822Glu)
c.88897A>G (p.Lys29633Glu)
c.86239A>G (p.Lys28747Glu)
c.86158A>G (p.Lys28720Glu)
c.67921A>G (p.Lys22641Glu)
c.57775A>G (p.Lys19259Glu)
2g.178546305T>GCA349467464TTN,TTN-AS1c.87322A>C (p.Lys29108Gln)
c.68407A>C (p.Lys22803Gln)
c.68206A>C (p.Lys22736Gln)
c.67831A>C (p.Lys22611Gln)
c.95026A>C (p.Lys31676Gln)
c.90103A>C (p.Lys30035Gln)
n.446+22669T>G
n.2043+3944T>G
c.94123A>C (p.Lys31375Gln)
c.68017A>C (p.Lys22673Gln)
c.67876A>C (p.Lys22626Gln)
c.93919A>C (p.Lys31307Gln)
c.89317A>C (p.Lys29773Gln)
c.89314A>C (p.Lys29772Gln)
c.86356A>C (p.Lys28786Gln)
c.67972A>C (p.Lys22658Gln)
c.89467A>C (p.Lys29823Gln)
c.89464A>C (p.Lys29822Gln)
c.88897A>C (p.Lys29633Gln)
c.86239A>C (p.Lys28747Gln)
c.86158A>C (p.Lys28720Gln)
c.67921A>C (p.Lys22641Gln)
c.57775A>C (p.Lys19259Gln)
2g.178546306G>ACA430242235TTN,TTN-AS1c.87321C>T (p.Ile29107=)
c.68406C>T (p.Ile22802=)
c.68205C>T (p.Ile22735=)
c.67830C>T (p.Ile22610=)
c.95025C>T (p.Ile31675=)
c.90102C>T (p.Ile30034=)
n.446+22670G>A
n.2043+3945G>A
c.94122C>T (p.Ile31374=)
c.68016C>T (p.Ile22672=)
c.67875C>T (p.Ile22625=)
c.93918C>T (p.Ile31306=)
c.89316C>T (p.Ile29772=)
c.89313C>T (p.Ile29771=)
c.86355C>T (p.Ile28785=)
c.67971C>T (p.Ile22657=)
c.89466C>T (p.Ile29822=)
c.89463C>T (p.Ile29821=)
c.88896C>T (p.Ile29632=)
c.86238C>T (p.Ile28746=)
c.86157C>T (p.Ile28719=)
c.67920C>T (p.Ile22640=)
c.57774C>T (p.Ile19258=)
2g.178546306G>CCA349467466TTN,TTN-AS1c.87321C>G (p.Ile29107Met)
c.68406C>G (p.Ile22802Met)
c.68205C>G (p.Ile22735Met)
c.67830C>G (p.Ile22610Met)
c.95025C>G (p.Ile31675Met)
c.90102C>G (p.Ile30034Met)
n.446+22670G>C
n.2043+3945G>C
c.94122C>G (p.Ile31374Met)
c.68016C>G (p.Ile22672Met)
c.67875C>G (p.Ile22625Met)
c.93918C>G (p.Ile31306Met)
c.89316C>G (p.Ile29772Met)
c.89313C>G (p.Ile29771Met)
c.86355C>G (p.Ile28785Met)
c.67971C>G (p.Ile22657Met)
c.89466C>G (p.Ile29822Met)
c.89463C>G (p.Ile29821Met)
c.88896C>G (p.Ile29632Met)
c.86238C>G (p.Ile28746Met)
c.86157C>G (p.Ile28719Met)
c.67920C>G (p.Ile22640Met)
c.57774C>G (p.Ile19258Met)
2g.178546306G>TCA430242238TTN,TTN-AS1c.87321C>A (p.Ile29107=)
c.68406C>A (p.Ile22802=)
c.68205C>A (p.Ile22735=)
c.67830C>A (p.Ile22610=)
c.95025C>A (p.Ile31675=)
c.90102C>A (p.Ile30034=)
n.446+22670G>T
n.2043+3945G>T
c.94122C>A (p.Ile31374=)
c.68016C>A (p.Ile22672=)
c.67875C>A (p.Ile22625=)
c.93918C>A (p.Ile31306=)
c.89316C>A (p.Ile29772=)
c.89313C>A (p.Ile29771=)
c.86355C>A (p.Ile28785=)
c.67971C>A (p.Ile22657=)
c.89466C>A (p.Ile29822=)
c.89463C>A (p.Ile29821=)
c.88896C>A (p.Ile29632=)
c.86238C>A (p.Ile28746=)
c.86157C>A (p.Ile28719=)
c.67920C>A (p.Ile22640=)
c.57774C>A (p.Ile19258=)
2g.178546306_178546308delinsGATCA1310522961TTN,TTN-AS1c.87319_87321delinsATC (p.Ile29107=)
c.68404_68406delinsATC (p.Ile22802=)
c.68203_68205delinsATC (p.Ile22735=)
c.67828_67830delinsATC (p.Ile22610=)
c.95023_95025delinsATC (p.Ile31675=)
c.90100_90102delinsATC (p.Ile30034=)
n.446+22670_446+22672delinsGAT
n.2043+3945_2043+3947delinsGAT
c.94120_94122delinsATC (p.Ile31374=)
c.68014_68016delinsATC (p.Ile22672=)
c.67873_67875delinsATC (p.Ile22625=)
c.93916_93918delinsATC (p.Ile31306=)
c.89314_89316delinsATC (p.Ile29772=)
c.89311_89313delinsATC (p.Ile29771=)
c.86353_86355delinsATC (p.Ile28785=)
c.67969_67971delinsATC (p.Ile22657=)
c.89464_89466delinsATC (p.Ile29822=)
c.89461_89463delinsATC (p.Ile29821=)
c.88894_88896delinsATC (p.Ile29632=)
c.86236_86238delinsATC (p.Ile28746=)
c.86155_86157delinsATC (p.Ile28719=)
c.67918_67920delinsATC (p.Ile22640=)
c.57772_57774delinsATC (p.Ile19258=)
2g.178546307A>CCA349467467TTN,TTN-AS1c.87320T>G (p.Ile29107Ser)
c.68405T>G (p.Ile22802Ser)
c.68204T>G (p.Ile22735Ser)
c.67829T>G (p.Ile22610Ser)
c.95024T>G (p.Ile31675Ser)
c.90101T>G (p.Ile30034Ser)
n.446+22671A>C
n.2043+3946A>C
c.94121T>G (p.Ile31374Ser)
c.68015T>G (p.Ile22672Ser)
c.67874T>G (p.Ile22625Ser)
c.93917T>G (p.Ile31306Ser)
c.89315T>G (p.Ile29772Ser)
c.89312T>G (p.Ile29771Ser)
c.86354T>G (p.Ile28785Ser)
c.67970T>G (p.Ile22657Ser)
c.89465T>G (p.Ile29822Ser)
c.89462T>G (p.Ile29821Ser)
c.88895T>G (p.Ile29632Ser)
c.86237T>G (p.Ile28746Ser)
c.86156T>G (p.Ile28719Ser)
c.67919T>G (p.Ile22640Ser)
c.57773T>G (p.Ile19258Ser)
2g.178546307A>GCA349467469TTN,TTN-AS1c.87320T>C (p.Ile29107Thr)
c.68405T>C (p.Ile22802Thr)
c.68204T>C (p.Ile22735Thr)
c.67829T>C (p.Ile22610Thr)
c.95024T>C (p.Ile31675Thr)
c.90101T>C (p.Ile30034Thr)
n.446+22671A>G
n.2043+3946A>G
c.94121T>C (p.Ile31374Thr)
c.68015T>C (p.Ile22672Thr)
c.67874T>C (p.Ile22625Thr)
c.93917T>C (p.Ile31306Thr)
c.89315T>C (p.Ile29772Thr)
c.89312T>C (p.Ile29771Thr)
c.86354T>C (p.Ile28785Thr)
c.67970T>C (p.Ile22657Thr)
c.89465T>C (p.Ile29822Thr)
c.89462T>C (p.Ile29821Thr)
c.88895T>C (p.Ile29632Thr)
c.86237T>C (p.Ile28746Thr)
c.86156T>C (p.Ile28719Thr)
c.67919T>C (p.Ile22640Thr)
c.57773T>C (p.Ile19258Thr)
 gnomAD v4
2g.178546307A>TCA349467470TTN,TTN-AS1c.87320T>A (p.Ile29107Asn)
c.68405T>A (p.Ile22802Asn)
c.68204T>A (p.Ile22735Asn)
c.67829T>A (p.Ile22610Asn)
c.95024T>A (p.Ile31675Asn)
c.90101T>A (p.Ile30034Asn)
n.446+22671A>T
n.2043+3946A>T
c.94121T>A (p.Ile31374Asn)
c.68015T>A (p.Ile22672Asn)
c.67874T>A (p.Ile22625Asn)
c.93917T>A (p.Ile31306Asn)
c.89315T>A (p.Ile29772Asn)
c.89312T>A (p.Ile29771Asn)
c.86354T>A (p.Ile28785Asn)
c.67970T>A (p.Ile22657Asn)
c.89465T>A (p.Ile29822Asn)
c.89462T>A (p.Ile29821Asn)
c.88895T>A (p.Ile29632Asn)
c.86237T>A (p.Ile28746Asn)
c.86156T>A (p.Ile28719Asn)
c.67919T>A (p.Ile22640Asn)
c.57773T>A (p.Ile19258Asn)
2g.178546307_178546308delCA1139657412TTN,TTN-AS1c.87319_87320del (p.Ile29107GlnfsTer4)
c.68404_68405del (p.Ile22802GlnfsTer4)
c.68203_68204del (p.Ile22735GlnfsTer4)
c.67828_67829del (p.Ile22610GlnfsTer4)
c.95023_95024del (p.Ile31675GlnfsTer4)
c.90100_90101del (p.Ile30034GlnfsTer4)
n.446+22671_446+22672del
n.2043+3946_2043+3947del
c.94120_94121del (p.Ile31374GlnfsTer4)
c.68014_68015del (p.Ile22672GlnfsTer4)
c.67873_67874del (p.Ile22625GlnfsTer4)
c.93916_93917del (p.Ile31306GlnfsTer4)
c.89314_89315del (p.Ile29772GlnfsTer4)
c.89311_89312del (p.Ile29771GlnfsTer4)
c.86353_86354del (p.Ile28785GlnfsTer4)
c.67969_67970del (p.Ile22657GlnfsTer4)
c.89464_89465del (p.Ile29822GlnfsTer4)
c.89461_89462del (p.Ile29821GlnfsTer4)
c.88894_88895del (p.Ile29632GlnfsTer4)
c.86236_86237del (p.Ile28746GlnfsTer4)
c.86155_86156del (p.Ile28719GlnfsTer4)
c.67918_67919del (p.Ile22640GlnfsTer4)
c.57772_57773del (p.Ile19258GlnfsTer4)
 ClinVar dbSNP
2g.178546308T>ACA349467473TTN,TTN-AS1c.87319A>T (p.Ile29107Phe)
c.68404A>T (p.Ile22802Phe)
c.68203A>T (p.Ile22735Phe)
c.67828A>T (p.Ile22610Phe)
c.95023A>T (p.Ile31675Phe)
c.90100A>T (p.Ile30034Phe)
n.446+22672T>A
n.2043+3947T>A
c.94120A>T (p.Ile31374Phe)
c.68014A>T (p.Ile22672Phe)
c.67873A>T (p.Ile22625Phe)
c.93916A>T (p.Ile31306Phe)
c.89314A>T (p.Ile29772Phe)
c.89311A>T (p.Ile29771Phe)
c.86353A>T (p.Ile28785Phe)
c.67969A>T (p.Ile22657Phe)
c.89464A>T (p.Ile29822Phe)
c.89461A>T (p.Ile29821Phe)
c.88894A>T (p.Ile29632Phe)
c.86236A>T (p.Ile28746Phe)
c.86155A>T (p.Ile28719Phe)
c.67918A>T (p.Ile22640Phe)
c.57772A>T (p.Ile19258Phe)
2g.178546308T>CCA349467477TTN,TTN-AS1c.87319A>G (p.Ile29107Val)
c.68404A>G (p.Ile22802Val)
c.68203A>G (p.Ile22735Val)
c.67828A>G (p.Ile22610Val)
c.95023A>G (p.Ile31675Val)
c.90100A>G (p.Ile30034Val)
n.446+22672T>C
n.2043+3947T>C
c.94120A>G (p.Ile31374Val)
c.68014A>G (p.Ile22672Val)
c.67873A>G (p.Ile22625Val)
c.93916A>G (p.Ile31306Val)
c.89314A>G (p.Ile29772Val)
c.89311A>G (p.Ile29771Val)
c.86353A>G (p.Ile28785Val)
c.67969A>G (p.Ile22657Val)
c.89464A>G (p.Ile29822Val)
c.89461A>G (p.Ile29821Val)
c.88894A>G (p.Ile29632Val)
c.86236A>G (p.Ile28746Val)
c.86155A>G (p.Ile28719Val)
c.67918A>G (p.Ile22640Val)
c.57772A>G (p.Ile19258Val)
2g.178546308T>GCA349467478TTN,TTN-AS1c.87319A>C (p.Ile29107Leu)
c.68404A>C (p.Ile22802Leu)
c.68203A>C (p.Ile22735Leu)
c.67828A>C (p.Ile22610Leu)
c.95023A>C (p.Ile31675Leu)
c.90100A>C (p.Ile30034Leu)
n.446+22672T>G
n.2043+3947T>G
c.94120A>C (p.Ile31374Leu)
c.68014A>C (p.Ile22672Leu)
c.67873A>C (p.Ile22625Leu)
c.93916A>C (p.Ile31306Leu)
c.89314A>C (p.Ile29772Leu)
c.89311A>C (p.Ile29771Leu)
c.86353A>C (p.Ile28785Leu)
c.67969A>C (p.Ile22657Leu)
c.89464A>C (p.Ile29822Leu)
c.89461A>C (p.Ile29821Leu)
c.88894A>C (p.Ile29632Leu)
c.86236A>C (p.Ile28746Leu)
c.86155A>C (p.Ile28719Leu)
c.67918A>C (p.Ile22640Leu)
c.57772A>C (p.Ile19258Leu)
2g.178546309C>ACA430242017TTN,TTN-AS1c.87318G>T (p.Val29106=)
c.68403G>T (p.Val22801=)
c.68202G>T (p.Val22734=)
c.67827G>T (p.Val22609=)
c.95022G>T (p.Val31674=)
c.90099G>T (p.Val30033=)
n.446+22673C>A
n.2043+3948C>A
c.94119G>T (p.Val31373=)
c.68013G>T (p.Val22671=)
c.67872G>T (p.Val22624=)
c.93915G>T (p.Val31305=)
c.89313G>T (p.Val29771=)
c.89310G>T (p.Val29770=)
c.86352G>T (p.Val28784=)
c.67968G>T (p.Val22656=)
c.89463G>T (p.Val29821=)
c.89460G>T (p.Val29820=)
c.88893G>T (p.Val29631=)
c.86235G>T (p.Val28745=)
c.86154G>T (p.Val28718=)
c.67917G>T (p.Val22639=)
c.57771G>T (p.Val19257=)
2g.178546309C>GCA430242015TTN,TTN-AS1c.87318G>C (p.Val29106=)
c.68403G>C (p.Val22801=)
c.68202G>C (p.Val22734=)
c.67827G>C (p.Val22609=)
c.95022G>C (p.Val31674=)
c.90099G>C (p.Val30033=)
n.446+22673C>G
n.2043+3948C>G
c.94119G>C (p.Val31373=)
c.68013G>C (p.Val22671=)
c.67872G>C (p.Val22624=)
c.93915G>C (p.Val31305=)
c.89313G>C (p.Val29771=)
c.89310G>C (p.Val29770=)
c.86352G>C (p.Val28784=)
c.67968G>C (p.Val22656=)
c.89463G>C (p.Val29821=)
c.89460G>C (p.Val29820=)
c.88893G>C (p.Val29631=)
c.86235G>C (p.Val28745=)
c.86154G>C (p.Val28718=)
c.67917G>C (p.Val22639=)
c.57771G>C (p.Val19257=)
 gnomAD v4
2g.178546309C>TCA430242018TTN,TTN-AS1c.87318G>A (p.Val29106=)
c.68403G>A (p.Val22801=)
c.68202G>A (p.Val22734=)
c.67827G>A (p.Val22609=)
c.95022G>A (p.Val31674=)
c.90099G>A (p.Val30033=)
n.446+22673C>T
n.2043+3948C>T
c.94119G>A (p.Val31373=)
c.68013G>A (p.Val22671=)
c.67872G>A (p.Val22624=)
c.93915G>A (p.Val31305=)
c.89313G>A (p.Val29771=)
c.89310G>A (p.Val29770=)
c.86352G>A (p.Val28784=)
c.67968G>A (p.Val22656=)
c.89463G>A (p.Val29821=)
c.89460G>A (p.Val29820=)
c.88893G>A (p.Val29631=)
c.86235G>A (p.Val28745=)
c.86154G>A (p.Val28718=)
c.67917G>A (p.Val22639=)
c.57771G>A (p.Val19257=)
2g.178546310A=CA1310522963TTN,TTN-AS1c.87317T= (p.Val29106=)
c.68402T= (p.Val22801=)
c.68201T= (p.Val22734=)
c.67826T= (p.Val22609=)
c.95021T= (p.Val31674=)
c.90098T= (p.Val30033=)
n.446+22674A=
n.2043+3949A=
c.94118T= (p.Val31373=)
c.68012T= (p.Val22671=)
c.67871T= (p.Val22624=)
c.93914T= (p.Val31305=)
c.89312T= (p.Val29771=)
c.89309T= (p.Val29770=)
c.86351T= (p.Val28784=)
c.67967T= (p.Val22656=)
c.89462T= (p.Val29821=)
c.89459T= (p.Val29820=)
c.88892T= (p.Val29631=)
c.86234T= (p.Val28745=)
c.86153T= (p.Val28718=)
c.67916T= (p.Val22639=)
c.57770T= (p.Val19257=)
2g.178546310A>CCA349467479TTN,TTN-AS1c.87317T>G (p.Val29106Gly)
c.68402T>G (p.Val22801Gly)
c.68201T>G (p.Val22734Gly)
c.67826T>G (p.Val22609Gly)
c.95021T>G (p.Val31674Gly)
c.90098T>G (p.Val30033Gly)
n.446+22674A>C
n.2043+3949A>C
c.94118T>G (p.Val31373Gly)
c.68012T>G (p.Val22671Gly)
c.67871T>G (p.Val22624Gly)
c.93914T>G (p.Val31305Gly)
c.89312T>G (p.Val29771Gly)
c.89309T>G (p.Val29770Gly)
c.86351T>G (p.Val28784Gly)
c.67967T>G (p.Val22656Gly)
c.89462T>G (p.Val29821Gly)
c.89459T>G (p.Val29820Gly)
c.88892T>G (p.Val29631Gly)
c.86234T>G (p.Val28745Gly)
c.86153T>G (p.Val28718Gly)
c.67916T>G (p.Val22639Gly)
c.57770T>G (p.Val19257Gly)
2g.178546310A>GCA1987029TTN,TTN-AS1c.87317T>C (p.Val29106Ala)
c.68402T>C (p.Val22801Ala)
c.68201T>C (p.Val22734Ala)
c.67826T>C (p.Val22609Ala)
c.95021T>C (p.Val31674Ala)
c.90098T>C (p.Val30033Ala)
n.446+22674A>G
n.2043+3949A>G
c.94118T>C (p.Val31373Ala)
c.68012T>C (p.Val22671Ala)
c.67871T>C (p.Val22624Ala)
c.93914T>C (p.Val31305Ala)
c.89312T>C (p.Val29771Ala)
c.89309T>C (p.Val29770Ala)
c.86351T>C (p.Val28784Ala)
c.67967T>C (p.Val22656Ala)
c.89462T>C (p.Val29821Ala)
c.89459T>C (p.Val29820Ala)
c.88892T>C (p.Val29631Ala)
c.86234T>C (p.Val28745Ala)
c.86153T>C (p.Val28718Ala)
c.67916T>C (p.Val22639Ala)
c.57770T>C (p.Val19257Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178546310A>TCA349467480TTN,TTN-AS1c.87317T>A (p.Val29106Glu)
c.68402T>A (p.Val22801Glu)
c.68201T>A (p.Val22734Glu)
c.67826T>A (p.Val22609Glu)
c.95021T>A (p.Val31674Glu)
c.90098T>A (p.Val30033Glu)
n.446+22674A>T
n.2043+3949A>T
c.94118T>A (p.Val31373Glu)
c.68012T>A (p.Val22671Glu)
c.67871T>A (p.Val22624Glu)
c.93914T>A (p.Val31305Glu)
c.89312T>A (p.Val29771Glu)
c.89309T>A (p.Val29770Glu)
c.86351T>A (p.Val28784Glu)
c.67967T>A (p.Val22656Glu)
c.89462T>A (p.Val29821Glu)
c.89459T>A (p.Val29820Glu)
c.88892T>A (p.Val29631Glu)
c.86234T>A (p.Val28745Glu)
c.86153T>A (p.Val28718Glu)
c.67916T>A (p.Val22639Glu)
c.57770T>A (p.Val19257Glu)
2g.178546311C>ACA349467482TTN,TTN-AS1c.87316G>T (p.Val29106Leu)
c.68401G>T (p.Val22801Leu)
c.68200G>T (p.Val22734Leu)
c.67825G>T (p.Val22609Leu)
c.95020G>T (p.Val31674Leu)
c.90097G>T (p.Val30033Leu)
n.446+22675C>A
n.2043+3950C>A
c.94117G>T (p.Val31373Leu)
c.68011G>T (p.Val22671Leu)
c.67870G>T (p.Val22624Leu)
c.93913G>T (p.Val31305Leu)
c.89311G>T (p.Val29771Leu)
c.89308G>T (p.Val29770Leu)
c.86350G>T (p.Val28784Leu)
c.67966G>T (p.Val22656Leu)
c.89461G>T (p.Val29821Leu)
c.89458G>T (p.Val29820Leu)
c.88891G>T (p.Val29631Leu)
c.86233G>T (p.Val28745Leu)
c.86152G>T (p.Val28718Leu)
c.67915G>T (p.Val22639Leu)
c.57769G>T (p.Val19257Leu)
 ClinVar dbSNP gnomAD v4
2g.178546311C=CA1310522966TTN,TTN-AS1c.87316G= (p.Val29106=)
c.68401G= (p.Val22801=)
c.68200G= (p.Val22734=)
c.67825G= (p.Val22609=)
c.95020G= (p.Val31674=)
c.90097G= (p.Val30033=)
n.446+22675C=
n.2043+3950C=
c.94117G= (p.Val31373=)
c.68011G= (p.Val22671=)
c.67870G= (p.Val22624=)
c.93913G= (p.Val31305=)
c.89311G= (p.Val29771=)
c.89308G= (p.Val29770=)
c.86350G= (p.Val28784=)
c.67966G= (p.Val22656=)
c.89461G= (p.Val29821=)
c.89458G= (p.Val29820=)
c.88891G= (p.Val29631=)
c.86233G= (p.Val28745=)
c.86152G= (p.Val28718=)
c.67915G= (p.Val22639=)
c.57769G= (p.Val19257=)
2g.178546311C>GCA349467485TTN,TTN-AS1c.87316G>C (p.Val29106Leu)
c.68401G>C (p.Val22801Leu)
c.68200G>C (p.Val22734Leu)
c.67825G>C (p.Val22609Leu)
c.95020G>C (p.Val31674Leu)
c.90097G>C (p.Val30033Leu)
n.446+22675C>G
n.2043+3950C>G
c.94117G>C (p.Val31373Leu)
c.68011G>C (p.Val22671Leu)
c.67870G>C (p.Val22624Leu)
c.93913G>C (p.Val31305Leu)
c.89311G>C (p.Val29771Leu)
c.89308G>C (p.Val29770Leu)
c.86350G>C (p.Val28784Leu)
c.67966G>C (p.Val22656Leu)
c.89461G>C (p.Val29821Leu)
c.89458G>C (p.Val29820Leu)
c.88891G>C (p.Val29631Leu)
c.86233G>C (p.Val28745Leu)
c.86152G>C (p.Val28718Leu)
c.67915G>C (p.Val22639Leu)
c.57769G>C (p.Val19257Leu)
2g.178546311C>TCA349467493TTN,TTN-AS1c.87316G>A (p.Val29106Met)
c.68401G>A (p.Val22801Met)
c.68200G>A (p.Val22734Met)
c.67825G>A (p.Val22609Met)
c.95020G>A (p.Val31674Met)
c.90097G>A (p.Val30033Met)
n.446+22675C>T
n.2043+3950C>T
c.94117G>A (p.Val31373Met)
c.68011G>A (p.Val22671Met)
c.67870G>A (p.Val22624Met)
c.93913G>A (p.Val31305Met)
c.89311G>A (p.Val29771Met)
c.89308G>A (p.Val29770Met)
c.86350G>A (p.Val28784Met)
c.67966G>A (p.Val22656Met)
c.89461G>A (p.Val29821Met)
c.89458G>A (p.Val29820Met)
c.88891G>A (p.Val29631Met)
c.86233G>A (p.Val28745Met)
c.86152G>A (p.Val28718Met)
c.67915G>A (p.Val22639Met)
c.57769G>A (p.Val19257Met)
2g.178546312A>CCA430242023TTN,TTN-AS1c.87315T>G (p.Ala29105=)
c.68400T>G (p.Ala22800=)
c.68199T>G (p.Ala22733=)
c.67824T>G (p.Ala22608=)
c.95019T>G (p.Ala31673=)
c.90096T>G (p.Ala30032=)
n.446+22676A>C
n.2043+3951A>C
c.94116T>G (p.Ala31372=)
c.68010T>G (p.Ala22670=)
c.67869T>G (p.Ala22623=)
c.93912T>G (p.Ala31304=)
c.89310T>G (p.Ala29770=)
c.89307T>G (p.Ala29769=)
c.86349T>G (p.Ala28783=)
c.67965T>G (p.Ala22655=)
c.89460T>G (p.Ala29820=)
c.89457T>G (p.Ala29819=)
c.88890T>G (p.Ala29630=)
c.86232T>G (p.Ala28744=)
c.86151T>G (p.Ala28717=)
c.67914T>G (p.Ala22638=)
c.57768T>G (p.Ala19256=)
2g.178546312A>GCA430242024TTN,TTN-AS1c.87315T>C (p.Ala29105=)
c.68400T>C (p.Ala22800=)
c.68199T>C (p.Ala22733=)
c.67824T>C (p.Ala22608=)
c.95019T>C (p.Ala31673=)
c.90096T>C (p.Ala30032=)
n.446+22676A>G
n.2043+3951A>G
c.94116T>C (p.Ala31372=)
c.68010T>C (p.Ala22670=)
c.67869T>C (p.Ala22623=)
c.93912T>C (p.Ala31304=)
c.89310T>C (p.Ala29770=)
c.89307T>C (p.Ala29769=)
c.86349T>C (p.Ala28783=)
c.67965T>C (p.Ala22655=)
c.89460T>C (p.Ala29820=)
c.89457T>C (p.Ala29819=)
c.88890T>C (p.Ala29630=)
c.86232T>C (p.Ala28744=)
c.86151T>C (p.Ala28717=)
c.67914T>C (p.Ala22638=)
c.57768T>C (p.Ala19256=)
2g.178546312A>TCA430242025TTN,TTN-AS1c.87315T>A (p.Ala29105=)
c.68400T>A (p.Ala22800=)
c.68199T>A (p.Ala22733=)
c.67824T>A (p.Ala22608=)
c.95019T>A (p.Ala31673=)
c.90096T>A (p.Ala30032=)
n.446+22676A>T
n.2043+3951A>T
c.94116T>A (p.Ala31372=)
c.68010T>A (p.Ala22670=)
c.67869T>A (p.Ala22623=)
c.93912T>A (p.Ala31304=)
c.89310T>A (p.Ala29770=)
c.89307T>A (p.Ala29769=)
c.86349T>A (p.Ala28783=)
c.67965T>A (p.Ala22655=)
c.89460T>A (p.Ala29820=)
c.89457T>A (p.Ala29819=)
c.88890T>A (p.Ala29630=)
c.86232T>A (p.Ala28744=)
c.86151T>A (p.Ala28717=)
c.67914T>A (p.Ala22638=)
c.57768T>A (p.Ala19256=)
2g.178546313G>ACA237689TTN,TTN-AS1c.87314C>T (p.Ala29105Val)
c.68399C>T (p.Ala22800Val)
c.68198C>T (p.Ala22733Val)
c.67823C>T (p.Ala22608Val)
c.95018C>T (p.Ala31673Val)
c.90095C>T (p.Ala30032Val)
n.446+22677G>A
n.2043+3952G>A
c.94115C>T (p.Ala31372Val)
c.68009C>T (p.Ala22670Val)
c.67868C>T (p.Ala22623Val)
c.93911C>T (p.Ala31304Val)
c.89309C>T (p.Ala29770Val)
c.89306C>T (p.Ala29769Val)
c.86348C>T (p.Ala28783Val)
c.67964C>T (p.Ala22655Val)
c.89459C>T (p.Ala29820Val)
c.89456C>T (p.Ala29819Val)
c.88889C>T (p.Ala29630Val)
c.86231C>T (p.Ala28744Val)
c.86150C>T (p.Ala28717Val)
c.67913C>T (p.Ala22638Val)
c.57767C>T (p.Ala19256Val)
 ClinVar dbSNP gnomAD v4
2g.178546313G>CCA349467499TTN,TTN-AS1c.87314C>G (p.Ala29105Gly)
c.68399C>G (p.Ala22800Gly)
c.68198C>G (p.Ala22733Gly)
c.67823C>G (p.Ala22608Gly)
c.95018C>G (p.Ala31673Gly)
c.90095C>G (p.Ala30032Gly)
n.446+22677G>C
n.2043+3952G>C
c.94115C>G (p.Ala31372Gly)
c.68009C>G (p.Ala22670Gly)
c.67868C>G (p.Ala22623Gly)
c.93911C>G (p.Ala31304Gly)
c.89309C>G (p.Ala29770Gly)
c.89306C>G (p.Ala29769Gly)
c.86348C>G (p.Ala28783Gly)
c.67964C>G (p.Ala22655Gly)
c.89459C>G (p.Ala29820Gly)
c.89456C>G (p.Ala29819Gly)
c.88889C>G (p.Ala29630Gly)
c.86231C>G (p.Ala28744Gly)
c.86150C>G (p.Ala28717Gly)
c.67913C>G (p.Ala22638Gly)
c.57767C>G (p.Ala19256Gly)

Number of alleles fetched