Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178575981T>ACA349664576TTN,TTN-AS1c.62447A>T (p.Asn20816Ile)
c.43532A>T (p.Asn14511Ile)
c.43331A>T (p.Asn14444Ile)
c.42956A>T (p.Asn14319Ile)
c.70151A>T (p.Asn23384Ile)
c.65228A>T (p.Asn21743Ile)
n.596+4532T>A
n.2044-6591T>A
c.69248A>T (p.Asn23083Ile)
c.43142A>T (p.Asn14381Ile)
c.43001A>T (p.Asn14334Ile)
c.69044A>T (p.Asn23015Ile)
c.64442A>T (p.Asn21481Ile)
c.64439A>T (p.Asn21480Ile)
c.61481A>T (p.Asn20494Ile)
c.43097A>T (p.Asn14366Ile)
c.64592A>T (p.Asn21531Ile)
c.64589A>T (p.Asn21530Ile)
c.64022A>T (p.Asn21341Ile)
c.61364A>T (p.Asn20455Ile)
c.61283A>T (p.Asn20428Ile)
c.43046A>T (p.Asn14349Ile)
c.32900A>T (p.Asn10967Ile)
2g.178575981T>CCA349664577TTN,TTN-AS1c.62447A>G (p.Asn20816Ser)
c.43532A>G (p.Asn14511Ser)
c.43331A>G (p.Asn14444Ser)
c.42956A>G (p.Asn14319Ser)
c.70151A>G (p.Asn23384Ser)
c.65228A>G (p.Asn21743Ser)
n.596+4532T>C
n.2044-6591T>C
c.69248A>G (p.Asn23083Ser)
c.43142A>G (p.Asn14381Ser)
c.43001A>G (p.Asn14334Ser)
c.69044A>G (p.Asn23015Ser)
c.64442A>G (p.Asn21481Ser)
c.64439A>G (p.Asn21480Ser)
c.61481A>G (p.Asn20494Ser)
c.43097A>G (p.Asn14366Ser)
c.64592A>G (p.Asn21531Ser)
c.64589A>G (p.Asn21530Ser)
c.64022A>G (p.Asn21341Ser)
c.61364A>G (p.Asn20455Ser)
c.61283A>G (p.Asn20428Ser)
c.43046A>G (p.Asn14349Ser)
c.32900A>G (p.Asn10967Ser)
2g.178575981T>GCA349664579TTN,TTN-AS1c.62447A>C (p.Asn20816Thr)
c.43532A>C (p.Asn14511Thr)
c.43331A>C (p.Asn14444Thr)
c.42956A>C (p.Asn14319Thr)
c.70151A>C (p.Asn23384Thr)
c.65228A>C (p.Asn21743Thr)
n.596+4532T>G
n.2044-6591T>G
c.69248A>C (p.Asn23083Thr)
c.43142A>C (p.Asn14381Thr)
c.43001A>C (p.Asn14334Thr)
c.69044A>C (p.Asn23015Thr)
c.64442A>C (p.Asn21481Thr)
c.64439A>C (p.Asn21480Thr)
c.61481A>C (p.Asn20494Thr)
c.43097A>C (p.Asn14366Thr)
c.64592A>C (p.Asn21531Thr)
c.64589A>C (p.Asn21530Thr)
c.64022A>C (p.Asn21341Thr)
c.61364A>C (p.Asn20455Thr)
c.61283A>C (p.Asn20428Thr)
c.43046A>C (p.Asn14349Thr)
c.32900A>C (p.Asn10967Thr)
2g.178575982T>ACA349664582TTN,TTN-AS1c.62446A>T (p.Asn20816Tyr)
c.43531A>T (p.Asn14511Tyr)
c.43330A>T (p.Asn14444Tyr)
c.42955A>T (p.Asn14319Tyr)
c.70150A>T (p.Asn23384Tyr)
c.65227A>T (p.Asn21743Tyr)
n.596+4533T>A
n.2044-6590T>A
c.69247A>T (p.Asn23083Tyr)
c.43141A>T (p.Asn14381Tyr)
c.43000A>T (p.Asn14334Tyr)
c.69043A>T (p.Asn23015Tyr)
c.64441A>T (p.Asn21481Tyr)
c.64438A>T (p.Asn21480Tyr)
c.61480A>T (p.Asn20494Tyr)
c.43096A>T (p.Asn14366Tyr)
c.64591A>T (p.Asn21531Tyr)
c.64588A>T (p.Asn21530Tyr)
c.64021A>T (p.Asn21341Tyr)
c.61363A>T (p.Asn20455Tyr)
c.61282A>T (p.Asn20428Tyr)
c.43045A>T (p.Asn14349Tyr)
c.32899A>T (p.Asn10967Tyr)
2g.178575982T>CCA349664584TTN,TTN-AS1c.62446A>G (p.Asn20816Asp)
c.43531A>G (p.Asn14511Asp)
c.43330A>G (p.Asn14444Asp)
c.42955A>G (p.Asn14319Asp)
c.70150A>G (p.Asn23384Asp)
c.65227A>G (p.Asn21743Asp)
n.596+4533T>C
n.2044-6590T>C
c.69247A>G (p.Asn23083Asp)
c.43141A>G (p.Asn14381Asp)
c.43000A>G (p.Asn14334Asp)
c.69043A>G (p.Asn23015Asp)
c.64441A>G (p.Asn21481Asp)
c.64438A>G (p.Asn21480Asp)
c.61480A>G (p.Asn20494Asp)
c.43096A>G (p.Asn14366Asp)
c.64591A>G (p.Asn21531Asp)
c.64588A>G (p.Asn21530Asp)
c.64021A>G (p.Asn21341Asp)
c.61363A>G (p.Asn20455Asp)
c.61282A>G (p.Asn20428Asp)
c.43045A>G (p.Asn14349Asp)
c.32899A>G (p.Asn10967Asp)
2g.178575982T>GCA349664589TTN,TTN-AS1c.62446A>C (p.Asn20816His)
c.43531A>C (p.Asn14511His)
c.43330A>C (p.Asn14444His)
c.42955A>C (p.Asn14319His)
c.70150A>C (p.Asn23384His)
c.65227A>C (p.Asn21743His)
n.596+4533T>G
n.2044-6590T>G
c.69247A>C (p.Asn23083His)
c.43141A>C (p.Asn14381His)
c.43000A>C (p.Asn14334His)
c.69043A>C (p.Asn23015His)
c.64441A>C (p.Asn21481His)
c.64438A>C (p.Asn21480His)
c.61480A>C (p.Asn20494His)
c.43096A>C (p.Asn14366His)
c.64591A>C (p.Asn21531His)
c.64588A>C (p.Asn21530His)
c.64021A>C (p.Asn21341His)
c.61363A>C (p.Asn20455His)
c.61282A>C (p.Asn20428His)
c.43045A>C (p.Asn14349His)
c.32899A>C (p.Asn10967His)
2g.178575983G>ACA430258368TTN,TTN-AS1c.62445C>T (p.Ile20815=)
c.43530C>T (p.Ile14510=)
c.43329C>T (p.Ile14443=)
c.42954C>T (p.Ile14318=)
c.70149C>T (p.Ile23383=)
c.65226C>T (p.Ile21742=)
n.596+4534G>A
n.2044-6589G>A
c.69246C>T (p.Ile23082=)
c.43140C>T (p.Ile14380=)
c.42999C>T (p.Ile14333=)
c.69042C>T (p.Ile23014=)
c.64440C>T (p.Ile21480=)
c.64437C>T (p.Ile21479=)
c.61479C>T (p.Ile20493=)
c.43095C>T (p.Ile14365=)
c.64590C>T (p.Ile21530=)
c.64587C>T (p.Ile21529=)
c.64020C>T (p.Ile21340=)
c.61362C>T (p.Ile20454=)
c.61281C>T (p.Ile20427=)
c.43044C>T (p.Ile14348=)
c.32898C>T (p.Ile10966=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178575983G>CCA349664596TTN,TTN-AS1c.62445C>G (p.Ile20815Met)
c.43530C>G (p.Ile14510Met)
c.43329C>G (p.Ile14443Met)
c.42954C>G (p.Ile14318Met)
c.70149C>G (p.Ile23383Met)
c.65226C>G (p.Ile21742Met)
n.596+4534G>C
n.2044-6589G>C
c.69246C>G (p.Ile23082Met)
c.43140C>G (p.Ile14380Met)
c.42999C>G (p.Ile14333Met)
c.69042C>G (p.Ile23014Met)
c.64440C>G (p.Ile21480Met)
c.64437C>G (p.Ile21479Met)
c.61479C>G (p.Ile20493Met)
c.43095C>G (p.Ile14365Met)
c.64590C>G (p.Ile21530Met)
c.64587C>G (p.Ile21529Met)
c.64020C>G (p.Ile21340Met)
c.61362C>G (p.Ile20454Met)
c.61281C>G (p.Ile20427Met)
c.43044C>G (p.Ile14348Met)
c.32898C>G (p.Ile10966Met)
 gnomAD v4
2g.178575983G=CA1310533430TTN,TTN-AS1c.62445C= (p.Ile20815=)
c.43530C= (p.Ile14510=)
c.43329C= (p.Ile14443=)
c.42954C= (p.Ile14318=)
c.70149C= (p.Ile23383=)
c.65226C= (p.Ile21742=)
n.596+4534G=
n.2044-6589G=
c.69246C= (p.Ile23082=)
c.43140C= (p.Ile14380=)
c.42999C= (p.Ile14333=)
c.69042C= (p.Ile23014=)
c.64440C= (p.Ile21480=)
c.64437C= (p.Ile21479=)
c.61479C= (p.Ile20493=)
c.43095C= (p.Ile14365=)
c.64590C= (p.Ile21530=)
c.64587C= (p.Ile21529=)
c.64020C= (p.Ile21340=)
c.61362C= (p.Ile20454=)
c.61281C= (p.Ile20427=)
c.43044C= (p.Ile14348=)
c.32898C= (p.Ile10966=)
2g.178575983G>TCA430258369TTN,TTN-AS1c.62445C>A (p.Ile20815=)
c.43530C>A (p.Ile14510=)
c.43329C>A (p.Ile14443=)
c.42954C>A (p.Ile14318=)
c.70149C>A (p.Ile23383=)
c.65226C>A (p.Ile21742=)
n.596+4534G>T
n.2044-6589G>T
c.69246C>A (p.Ile23082=)
c.43140C>A (p.Ile14380=)
c.42999C>A (p.Ile14333=)
c.69042C>A (p.Ile23014=)
c.64440C>A (p.Ile21480=)
c.64437C>A (p.Ile21479=)
c.61479C>A (p.Ile20493=)
c.43095C>A (p.Ile14365=)
c.64590C>A (p.Ile21530=)
c.64587C>A (p.Ile21529=)
c.64020C>A (p.Ile21340=)
c.61362C>A (p.Ile20454=)
c.61281C>A (p.Ile20427=)
c.43044C>A (p.Ile14348=)
c.32898C>A (p.Ile10966=)
2g.178575984A=CA1310533431TTN,TTN-AS1c.62444T= (p.Ile20815=)
c.43529T= (p.Ile14510=)
c.43328T= (p.Ile14443=)
c.42953T= (p.Ile14318=)
c.70148T= (p.Ile23383=)
c.65225T= (p.Ile21742=)
n.596+4535A=
n.2044-6588A=
c.69245T= (p.Ile23082=)
c.43139T= (p.Ile14380=)
c.42998T= (p.Ile14333=)
c.69041T= (p.Ile23014=)
c.64439T= (p.Ile21480=)
c.64436T= (p.Ile21479=)
c.61478T= (p.Ile20493=)
c.43094T= (p.Ile14365=)
c.64589T= (p.Ile21530=)
c.64586T= (p.Ile21529=)
c.64019T= (p.Ile21340=)
c.61361T= (p.Ile20454=)
c.61280T= (p.Ile20427=)
c.43043T= (p.Ile14348=)
c.32897T= (p.Ile10966=)
2g.178575984A>CCA349664600TTN,TTN-AS1c.62444T>G (p.Ile20815Ser)
c.43529T>G (p.Ile14510Ser)
c.43328T>G (p.Ile14443Ser)
c.42953T>G (p.Ile14318Ser)
c.70148T>G (p.Ile23383Ser)
c.65225T>G (p.Ile21742Ser)
n.596+4535A>C
n.2044-6588A>C
c.69245T>G (p.Ile23082Ser)
c.43139T>G (p.Ile14380Ser)
c.42998T>G (p.Ile14333Ser)
c.69041T>G (p.Ile23014Ser)
c.64439T>G (p.Ile21480Ser)
c.64436T>G (p.Ile21479Ser)
c.61478T>G (p.Ile20493Ser)
c.43094T>G (p.Ile14365Ser)
c.64589T>G (p.Ile21530Ser)
c.64586T>G (p.Ile21529Ser)
c.64019T>G (p.Ile21340Ser)
c.61361T>G (p.Ile20454Ser)
c.61280T>G (p.Ile20427Ser)
c.43043T>G (p.Ile14348Ser)
c.32897T>G (p.Ile10966Ser)
2g.178575984A>GCA349664603TTN,TTN-AS1c.62444T>C (p.Ile20815Thr)
c.43529T>C (p.Ile14510Thr)
c.43328T>C (p.Ile14443Thr)
c.42953T>C (p.Ile14318Thr)
c.70148T>C (p.Ile23383Thr)
c.65225T>C (p.Ile21742Thr)
n.596+4535A>G
n.2044-6588A>G
c.69245T>C (p.Ile23082Thr)
c.43139T>C (p.Ile14380Thr)
c.42998T>C (p.Ile14333Thr)
c.69041T>C (p.Ile23014Thr)
c.64439T>C (p.Ile21480Thr)
c.64436T>C (p.Ile21479Thr)
c.61478T>C (p.Ile20493Thr)
c.43094T>C (p.Ile14365Thr)
c.64589T>C (p.Ile21530Thr)
c.64586T>C (p.Ile21529Thr)
c.64019T>C (p.Ile21340Thr)
c.61361T>C (p.Ile20454Thr)
c.61280T>C (p.Ile20427Thr)
c.43043T>C (p.Ile14348Thr)
c.32897T>C (p.Ile10966Thr)
 gnomAD v4
2g.178575984A>TCA349664607TTN,TTN-AS1c.62444T>A (p.Ile20815Asn)
c.43529T>A (p.Ile14510Asn)
c.43328T>A (p.Ile14443Asn)
c.42953T>A (p.Ile14318Asn)
c.70148T>A (p.Ile23383Asn)
c.65225T>A (p.Ile21742Asn)
n.596+4535A>T
n.2044-6588A>T
c.69245T>A (p.Ile23082Asn)
c.43139T>A (p.Ile14380Asn)
c.42998T>A (p.Ile14333Asn)
c.69041T>A (p.Ile23014Asn)
c.64439T>A (p.Ile21480Asn)
c.64436T>A (p.Ile21479Asn)
c.61478T>A (p.Ile20493Asn)
c.43094T>A (p.Ile14365Asn)
c.64589T>A (p.Ile21530Asn)
c.64586T>A (p.Ile21529Asn)
c.64019T>A (p.Ile21340Asn)
c.61361T>A (p.Ile20454Asn)
c.61280T>A (p.Ile20427Asn)
c.43043T>A (p.Ile14348Asn)
c.32897T>A (p.Ile10966Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.178575985T>ACA349664620TTN,TTN-AS1c.62443A>T (p.Ile20815Phe)
c.43528A>T (p.Ile14510Phe)
c.43327A>T (p.Ile14443Phe)
c.42952A>T (p.Ile14318Phe)
c.70147A>T (p.Ile23383Phe)
c.65224A>T (p.Ile21742Phe)
n.596+4536T>A
n.2044-6587T>A
c.69244A>T (p.Ile23082Phe)
c.43138A>T (p.Ile14380Phe)
c.42997A>T (p.Ile14333Phe)
c.69040A>T (p.Ile23014Phe)
c.64438A>T (p.Ile21480Phe)
c.64435A>T (p.Ile21479Phe)
c.61477A>T (p.Ile20493Phe)
c.43093A>T (p.Ile14365Phe)
c.64588A>T (p.Ile21530Phe)
c.64585A>T (p.Ile21529Phe)
c.64018A>T (p.Ile21340Phe)
c.61360A>T (p.Ile20454Phe)
c.61279A>T (p.Ile20427Phe)
c.43042A>T (p.Ile14348Phe)
c.32896A>T (p.Ile10966Phe)
2g.178575985T>CCA1990829TTN,TTN-AS1c.62443A>G (p.Ile20815Val)
c.43528A>G (p.Ile14510Val)
c.43327A>G (p.Ile14443Val)
c.42952A>G (p.Ile14318Val)
c.70147A>G (p.Ile23383Val)
c.65224A>G (p.Ile21742Val)
n.596+4536T>C
n.2044-6587T>C
c.69244A>G (p.Ile23082Val)
c.43138A>G (p.Ile14380Val)
c.42997A>G (p.Ile14333Val)
c.69040A>G (p.Ile23014Val)
c.64438A>G (p.Ile21480Val)
c.64435A>G (p.Ile21479Val)
c.61477A>G (p.Ile20493Val)
c.43093A>G (p.Ile14365Val)
c.64588A>G (p.Ile21530Val)
c.64585A>G (p.Ile21529Val)
c.64018A>G (p.Ile21340Val)
c.61360A>G (p.Ile20454Val)
c.61279A>G (p.Ile20427Val)
c.43042A>G (p.Ile14348Val)
c.32896A>G (p.Ile10966Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178575985T>GCA349664612TTN,TTN-AS1c.62443A>C (p.Ile20815Leu)
c.43528A>C (p.Ile14510Leu)
c.43327A>C (p.Ile14443Leu)
c.42952A>C (p.Ile14318Leu)
c.70147A>C (p.Ile23383Leu)
c.65224A>C (p.Ile21742Leu)
n.596+4536T>G
n.2044-6587T>G
c.69244A>C (p.Ile23082Leu)
c.43138A>C (p.Ile14380Leu)
c.42997A>C (p.Ile14333Leu)
c.69040A>C (p.Ile23014Leu)
c.64438A>C (p.Ile21480Leu)
c.64435A>C (p.Ile21479Leu)
c.61477A>C (p.Ile20493Leu)
c.43093A>C (p.Ile14365Leu)
c.64588A>C (p.Ile21530Leu)
c.64585A>C (p.Ile21529Leu)
c.64018A>C (p.Ile21340Leu)
c.61360A>C (p.Ile20454Leu)
c.61279A>C (p.Ile20427Leu)
c.43042A>C (p.Ile14348Leu)
c.32896A>C (p.Ile10966Leu)
2g.178575985T=CA1310533432TTN,TTN-AS1c.62443A= (p.Ile20815=)
c.43528A= (p.Ile14510=)
c.43327A= (p.Ile14443=)
c.42952A= (p.Ile14318=)
c.70147A= (p.Ile23383=)
c.65224A= (p.Ile21742=)
n.596+4536T=
n.2044-6587T=
c.69244A= (p.Ile23082=)
c.43138A= (p.Ile14380=)
c.42997A= (p.Ile14333=)
c.69040A= (p.Ile23014=)
c.64438A= (p.Ile21480=)
c.64435A= (p.Ile21479=)
c.61477A= (p.Ile20493=)
c.43093A= (p.Ile14365=)
c.64588A= (p.Ile21530=)
c.64585A= (p.Ile21529=)
c.64018A= (p.Ile21340=)
c.61360A= (p.Ile20454=)
c.61279A= (p.Ile20427=)
c.43042A= (p.Ile14348=)
c.32896A= (p.Ile10966=)
2g.178575986G>ACA1990830TTN,TTN-AS1c.62442C>T (p.Asn20814=)
c.43527C>T (p.Asn14509=)
c.43326C>T (p.Asn14442=)
c.42951C>T (p.Asn14317=)
c.70146C>T (p.Asn23382=)
c.65223C>T (p.Asn21741=)
n.596+4537G>A
n.2044-6586G>A
c.69243C>T (p.Asn23081=)
c.43137C>T (p.Asn14379=)
c.42996C>T (p.Asn14332=)
c.69039C>T (p.Asn23013=)
c.64437C>T (p.Asn21479=)
c.64434C>T (p.Asn21478=)
c.61476C>T (p.Asn20492=)
c.43092C>T (p.Asn14364=)
c.64587C>T (p.Asn21529=)
c.64584C>T (p.Asn21528=)
c.64017C>T (p.Asn21339=)
c.61359C>T (p.Asn20453=)
c.61278C>T (p.Asn20426=)
c.43041C>T (p.Asn14347=)
c.32895C>T (p.Asn10965=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178575986G>CCA349664629TTN,TTN-AS1c.62442C>G (p.Asn20814Lys)
c.43527C>G (p.Asn14509Lys)
c.43326C>G (p.Asn14442Lys)
c.42951C>G (p.Asn14317Lys)
c.70146C>G (p.Asn23382Lys)
c.65223C>G (p.Asn21741Lys)
n.596+4537G>C
n.2044-6586G>C
c.69243C>G (p.Asn23081Lys)
c.43137C>G (p.Asn14379Lys)
c.42996C>G (p.Asn14332Lys)
c.69039C>G (p.Asn23013Lys)
c.64437C>G (p.Asn21479Lys)
c.64434C>G (p.Asn21478Lys)
c.61476C>G (p.Asn20492Lys)
c.43092C>G (p.Asn14364Lys)
c.64587C>G (p.Asn21529Lys)
c.64584C>G (p.Asn21528Lys)
c.64017C>G (p.Asn21339Lys)
c.61359C>G (p.Asn20453Lys)
c.61278C>G (p.Asn20426Lys)
c.43041C>G (p.Asn14347Lys)
c.32895C>G (p.Asn10965Lys)
2g.178575986G=CA1310533433TTN,TTN-AS1c.62442C= (p.Asn20814=)
c.43527C= (p.Asn14509=)
c.43326C= (p.Asn14442=)
c.42951C= (p.Asn14317=)
c.70146C= (p.Asn23382=)
c.65223C= (p.Asn21741=)
n.596+4537G=
n.2044-6586G=
c.69243C= (p.Asn23081=)
c.43137C= (p.Asn14379=)
c.42996C= (p.Asn14332=)
c.69039C= (p.Asn23013=)
c.64437C= (p.Asn21479=)
c.64434C= (p.Asn21478=)
c.61476C= (p.Asn20492=)
c.43092C= (p.Asn14364=)
c.64587C= (p.Asn21529=)
c.64584C= (p.Asn21528=)
c.64017C= (p.Asn21339=)
c.61359C= (p.Asn20453=)
c.61278C= (p.Asn20426=)
c.43041C= (p.Asn14347=)
c.32895C= (p.Asn10965=)
2g.178575986G>TCA349664632TTN,TTN-AS1c.62442C>A (p.Asn20814Lys)
c.43527C>A (p.Asn14509Lys)
c.43326C>A (p.Asn14442Lys)
c.42951C>A (p.Asn14317Lys)
c.70146C>A (p.Asn23382Lys)
c.65223C>A (p.Asn21741Lys)
n.596+4537G>T
n.2044-6586G>T
c.69243C>A (p.Asn23081Lys)
c.43137C>A (p.Asn14379Lys)
c.42996C>A (p.Asn14332Lys)
c.69039C>A (p.Asn23013Lys)
c.64437C>A (p.Asn21479Lys)
c.64434C>A (p.Asn21478Lys)
c.61476C>A (p.Asn20492Lys)
c.43092C>A (p.Asn14364Lys)
c.64587C>A (p.Asn21529Lys)
c.64584C>A (p.Asn21528Lys)
c.64017C>A (p.Asn21339Lys)
c.61359C>A (p.Asn20453Lys)
c.61278C>A (p.Asn20426Lys)
c.43041C>A (p.Asn14347Lys)
c.32895C>A (p.Asn10965Lys)
2g.178575987T>ACA349664635TTN,TTN-AS1c.62441A>T (p.Asn20814Ile)
c.43526A>T (p.Asn14509Ile)
c.43325A>T (p.Asn14442Ile)
c.42950A>T (p.Asn14317Ile)
c.70145A>T (p.Asn23382Ile)
c.65222A>T (p.Asn21741Ile)
n.596+4538T>A
n.2044-6585T>A
c.69242A>T (p.Asn23081Ile)
c.43136A>T (p.Asn14379Ile)
c.42995A>T (p.Asn14332Ile)
c.69038A>T (p.Asn23013Ile)
c.64436A>T (p.Asn21479Ile)
c.64433A>T (p.Asn21478Ile)
c.61475A>T (p.Asn20492Ile)
c.43091A>T (p.Asn14364Ile)
c.64586A>T (p.Asn21529Ile)
c.64583A>T (p.Asn21528Ile)
c.64016A>T (p.Asn21339Ile)
c.61358A>T (p.Asn20453Ile)
c.61277A>T (p.Asn20426Ile)
c.43040A>T (p.Asn14347Ile)
c.32894A>T (p.Asn10965Ile)
2g.178575987T>CCA349664638TTN,TTN-AS1c.62441A>G (p.Asn20814Ser)
c.43526A>G (p.Asn14509Ser)
c.43325A>G (p.Asn14442Ser)
c.42950A>G (p.Asn14317Ser)
c.70145A>G (p.Asn23382Ser)
c.65222A>G (p.Asn21741Ser)
n.596+4538T>C
n.2044-6585T>C
c.69242A>G (p.Asn23081Ser)
c.43136A>G (p.Asn14379Ser)
c.42995A>G (p.Asn14332Ser)
c.69038A>G (p.Asn23013Ser)
c.64436A>G (p.Asn21479Ser)
c.64433A>G (p.Asn21478Ser)
c.61475A>G (p.Asn20492Ser)
c.43091A>G (p.Asn14364Ser)
c.64586A>G (p.Asn21529Ser)
c.64583A>G (p.Asn21528Ser)
c.64016A>G (p.Asn21339Ser)
c.61358A>G (p.Asn20453Ser)
c.61277A>G (p.Asn20426Ser)
c.43040A>G (p.Asn14347Ser)
c.32894A>G (p.Asn10965Ser)
2g.178575987T>GCA349664641TTN,TTN-AS1c.62441A>C (p.Asn20814Thr)
c.43526A>C (p.Asn14509Thr)
c.43325A>C (p.Asn14442Thr)
c.42950A>C (p.Asn14317Thr)
c.70145A>C (p.Asn23382Thr)
c.65222A>C (p.Asn21741Thr)
n.596+4538T>G
n.2044-6585T>G
c.69242A>C (p.Asn23081Thr)
c.43136A>C (p.Asn14379Thr)
c.42995A>C (p.Asn14332Thr)
c.69038A>C (p.Asn23013Thr)
c.64436A>C (p.Asn21479Thr)
c.64433A>C (p.Asn21478Thr)
c.61475A>C (p.Asn20492Thr)
c.43091A>C (p.Asn14364Thr)
c.64586A>C (p.Asn21529Thr)
c.64583A>C (p.Asn21528Thr)
c.64016A>C (p.Asn21339Thr)
c.61358A>C (p.Asn20453Thr)
c.61277A>C (p.Asn20426Thr)
c.43040A>C (p.Asn14347Thr)
c.32894A>C (p.Asn10965Thr)
2g.178575988T>ACA349664644TTN,TTN-AS1c.62440A>T (p.Asn20814Tyr)
c.43525A>T (p.Asn14509Tyr)
c.43324A>T (p.Asn14442Tyr)
c.42949A>T (p.Asn14317Tyr)
c.70144A>T (p.Asn23382Tyr)
c.65221A>T (p.Asn21741Tyr)
n.596+4539T>A
n.2044-6584T>A
c.69241A>T (p.Asn23081Tyr)
c.43135A>T (p.Asn14379Tyr)
c.42994A>T (p.Asn14332Tyr)
c.69037A>T (p.Asn23013Tyr)
c.64435A>T (p.Asn21479Tyr)
c.64432A>T (p.Asn21478Tyr)
c.61474A>T (p.Asn20492Tyr)
c.43090A>T (p.Asn14364Tyr)
c.64585A>T (p.Asn21529Tyr)
c.64582A>T (p.Asn21528Tyr)
c.64015A>T (p.Asn21339Tyr)
c.61357A>T (p.Asn20453Tyr)
c.61276A>T (p.Asn20426Tyr)
c.43039A>T (p.Asn14347Tyr)
c.32893A>T (p.Asn10965Tyr)
2g.178575988T>CCA349664651TTN,TTN-AS1c.62440A>G (p.Asn20814Asp)
c.43525A>G (p.Asn14509Asp)
c.43324A>G (p.Asn14442Asp)
c.42949A>G (p.Asn14317Asp)
c.70144A>G (p.Asn23382Asp)
c.65221A>G (p.Asn21741Asp)
n.596+4539T>C
n.2044-6584T>C
c.69241A>G (p.Asn23081Asp)
c.43135A>G (p.Asn14379Asp)
c.42994A>G (p.Asn14332Asp)
c.69037A>G (p.Asn23013Asp)
c.64435A>G (p.Asn21479Asp)
c.64432A>G (p.Asn21478Asp)
c.61474A>G (p.Asn20492Asp)
c.43090A>G (p.Asn14364Asp)
c.64585A>G (p.Asn21529Asp)
c.64582A>G (p.Asn21528Asp)
c.64015A>G (p.Asn21339Asp)
c.61357A>G (p.Asn20453Asp)
c.61276A>G (p.Asn20426Asp)
c.43039A>G (p.Asn14347Asp)
c.32893A>G (p.Asn10965Asp)
 gnomAD v4
2g.178575988T>GCA349664646TTN,TTN-AS1c.62440A>C (p.Asn20814His)
c.43525A>C (p.Asn14509His)
c.43324A>C (p.Asn14442His)
c.42949A>C (p.Asn14317His)
c.70144A>C (p.Asn23382His)
c.65221A>C (p.Asn21741His)
n.596+4539T>G
n.2044-6584T>G
c.69241A>C (p.Asn23081His)
c.43135A>C (p.Asn14379His)
c.42994A>C (p.Asn14332His)
c.69037A>C (p.Asn23013His)
c.64435A>C (p.Asn21479His)
c.64432A>C (p.Asn21478His)
c.61474A>C (p.Asn20492His)
c.43090A>C (p.Asn14364His)
c.64585A>C (p.Asn21529His)
c.64582A>C (p.Asn21528His)
c.64015A>C (p.Asn21339His)
c.61357A>C (p.Asn20453His)
c.61276A>C (p.Asn20426His)
c.43039A>C (p.Asn14347His)
c.32893A>C (p.Asn10965His)
2g.178575989A>CCA349664655TTN,TTN-AS1c.62439T>G (p.Asp20813Glu)
c.43524T>G (p.Asp14508Glu)
c.43323T>G (p.Asp14441Glu)
c.42948T>G (p.Asp14316Glu)
c.70143T>G (p.Asp23381Glu)
c.65220T>G (p.Asp21740Glu)
n.596+4540A>C
n.2044-6583A>C
c.69240T>G (p.Asp23080Glu)
c.43134T>G (p.Asp14378Glu)
c.42993T>G (p.Asp14331Glu)
c.69036T>G (p.Asp23012Glu)
c.64434T>G (p.Asp21478Glu)
c.64431T>G (p.Asp21477Glu)
c.61473T>G (p.Asp20491Glu)
c.43089T>G (p.Asp14363Glu)
c.64584T>G (p.Asp21528Glu)
c.64581T>G (p.Asp21527Glu)
c.64014T>G (p.Asp21338Glu)
c.61356T>G (p.Asp20452Glu)
c.61275T>G (p.Asp20425Glu)
c.43038T>G (p.Asp14346Glu)
c.32892T>G (p.Asp10964Glu)
2g.178575989A>GCA430258373TTN,TTN-AS1c.62439T>C (p.Asp20813=)
c.43524T>C (p.Asp14508=)
c.43323T>C (p.Asp14441=)
c.42948T>C (p.Asp14316=)
c.70143T>C (p.Asp23381=)
c.65220T>C (p.Asp21740=)
n.596+4540A>G
n.2044-6583A>G
c.69240T>C (p.Asp23080=)
c.43134T>C (p.Asp14378=)
c.42993T>C (p.Asp14331=)
c.69036T>C (p.Asp23012=)
c.64434T>C (p.Asp21478=)
c.64431T>C (p.Asp21477=)
c.61473T>C (p.Asp20491=)
c.43089T>C (p.Asp14363=)
c.64584T>C (p.Asp21528=)
c.64581T>C (p.Asp21527=)
c.64014T>C (p.Asp21338=)
c.61356T>C (p.Asp20452=)
c.61275T>C (p.Asp20425=)
c.43038T>C (p.Asp14346=)
c.32892T>C (p.Asp10964=)
2g.178575989A>TCA349664659TTN,TTN-AS1c.62439T>A (p.Asp20813Glu)
c.43524T>A (p.Asp14508Glu)
c.43323T>A (p.Asp14441Glu)
c.42948T>A (p.Asp14316Glu)
c.70143T>A (p.Asp23381Glu)
c.65220T>A (p.Asp21740Glu)
n.596+4540A>T
n.2044-6583A>T
c.69240T>A (p.Asp23080Glu)
c.43134T>A (p.Asp14378Glu)
c.42993T>A (p.Asp14331Glu)
c.69036T>A (p.Asp23012Glu)
c.64434T>A (p.Asp21478Glu)
c.64431T>A (p.Asp21477Glu)
c.61473T>A (p.Asp20491Glu)
c.43089T>A (p.Asp14363Glu)
c.64584T>A (p.Asp21528Glu)
c.64581T>A (p.Asp21527Glu)
c.64014T>A (p.Asp21338Glu)
c.61356T>A (p.Asp20452Glu)
c.61275T>A (p.Asp20425Glu)
c.43038T>A (p.Asp14346Glu)
c.32892T>A (p.Asp10964Glu)
2g.178575990T>ACA349664663TTN,TTN-AS1c.62438A>T (p.Asp20813Val)
c.43523A>T (p.Asp14508Val)
c.43322A>T (p.Asp14441Val)
c.42947A>T (p.Asp14316Val)
c.70142A>T (p.Asp23381Val)
c.65219A>T (p.Asp21740Val)
n.596+4541T>A
n.2044-6582T>A
c.69239A>T (p.Asp23080Val)
c.43133A>T (p.Asp14378Val)
c.42992A>T (p.Asp14331Val)
c.69035A>T (p.Asp23012Val)
c.64433A>T (p.Asp21478Val)
c.64430A>T (p.Asp21477Val)
c.61472A>T (p.Asp20491Val)
c.43088A>T (p.Asp14363Val)
c.64583A>T (p.Asp21528Val)
c.64580A>T (p.Asp21527Val)
c.64013A>T (p.Asp21338Val)
c.61355A>T (p.Asp20452Val)
c.61274A>T (p.Asp20425Val)
c.43037A>T (p.Asp14346Val)
c.32891A>T (p.Asp10964Val)
2g.178575990T>CCA349664666TTN,TTN-AS1c.62438A>G (p.Asp20813Gly)
c.43523A>G (p.Asp14508Gly)
c.43322A>G (p.Asp14441Gly)
c.42947A>G (p.Asp14316Gly)
c.70142A>G (p.Asp23381Gly)
c.65219A>G (p.Asp21740Gly)
n.596+4541T>C
n.2044-6582T>C
c.69239A>G (p.Asp23080Gly)
c.43133A>G (p.Asp14378Gly)
c.42992A>G (p.Asp14331Gly)
c.69035A>G (p.Asp23012Gly)
c.64433A>G (p.Asp21478Gly)
c.64430A>G (p.Asp21477Gly)
c.61472A>G (p.Asp20491Gly)
c.43088A>G (p.Asp14363Gly)
c.64583A>G (p.Asp21528Gly)
c.64580A>G (p.Asp21527Gly)
c.64013A>G (p.Asp21338Gly)
c.61355A>G (p.Asp20452Gly)
c.61274A>G (p.Asp20425Gly)
c.43037A>G (p.Asp14346Gly)
c.32891A>G (p.Asp10964Gly)
2g.178575990T>GCA349664677TTN,TTN-AS1c.62438A>C (p.Asp20813Ala)
c.43523A>C (p.Asp14508Ala)
c.43322A>C (p.Asp14441Ala)
c.42947A>C (p.Asp14316Ala)
c.70142A>C (p.Asp23381Ala)
c.65219A>C (p.Asp21740Ala)
n.596+4541T>G
n.2044-6582T>G
c.69239A>C (p.Asp23080Ala)
c.43133A>C (p.Asp14378Ala)
c.42992A>C (p.Asp14331Ala)
c.69035A>C (p.Asp23012Ala)
c.64433A>C (p.Asp21478Ala)
c.64430A>C (p.Asp21477Ala)
c.61472A>C (p.Asp20491Ala)
c.43088A>C (p.Asp14363Ala)
c.64583A>C (p.Asp21528Ala)
c.64580A>C (p.Asp21527Ala)
c.64013A>C (p.Asp21338Ala)
c.61355A>C (p.Asp20452Ala)
c.61274A>C (p.Asp20425Ala)
c.43037A>C (p.Asp14346Ala)
c.32891A>C (p.Asp10964Ala)
2g.178575991C>ACA349664689TTN,TTN-AS1c.62437G>T (p.Asp20813Tyr)
c.43522G>T (p.Asp14508Tyr)
c.43321G>T (p.Asp14441Tyr)
c.42946G>T (p.Asp14316Tyr)
c.70141G>T (p.Asp23381Tyr)
c.65218G>T (p.Asp21740Tyr)
n.596+4542C>A
n.2044-6581C>A
c.69238G>T (p.Asp23080Tyr)
c.43132G>T (p.Asp14378Tyr)
c.42991G>T (p.Asp14331Tyr)
c.69034G>T (p.Asp23012Tyr)
c.64432G>T (p.Asp21478Tyr)
c.64429G>T (p.Asp21477Tyr)
c.61471G>T (p.Asp20491Tyr)
c.43087G>T (p.Asp14363Tyr)
c.64582G>T (p.Asp21528Tyr)
c.64579G>T (p.Asp21527Tyr)
c.64012G>T (p.Asp21338Tyr)
c.61354G>T (p.Asp20452Tyr)
c.61273G>T (p.Asp20425Tyr)
c.43036G>T (p.Asp14346Tyr)
c.32890G>T (p.Asp10964Tyr)
2g.178575991C=CA1310533434TTN,TTN-AS1c.62437G= (p.Asp20813=)
c.43522G= (p.Asp14508=)
c.43321G= (p.Asp14441=)
c.42946G= (p.Asp14316=)
c.70141G= (p.Asp23381=)
c.65218G= (p.Asp21740=)
n.596+4542C=
n.2044-6581C=
c.69238G= (p.Asp23080=)
c.43132G= (p.Asp14378=)
c.42991G= (p.Asp14331=)
c.69034G= (p.Asp23012=)
c.64432G= (p.Asp21478=)
c.64429G= (p.Asp21477=)
c.61471G= (p.Asp20491=)
c.43087G= (p.Asp14363=)
c.64582G= (p.Asp21528=)
c.64579G= (p.Asp21527=)
c.64012G= (p.Asp21338=)
c.61354G= (p.Asp20452=)
c.61273G= (p.Asp20425=)
c.43036G= (p.Asp14346=)
c.32890G= (p.Asp10964=)
2g.178575991C>GCA349664691TTN,TTN-AS1c.62437G>C (p.Asp20813His)
c.43522G>C (p.Asp14508His)
c.43321G>C (p.Asp14441His)
c.42946G>C (p.Asp14316His)
c.70141G>C (p.Asp23381His)
c.65218G>C (p.Asp21740His)
n.596+4542C>G
n.2044-6581C>G
c.69238G>C (p.Asp23080His)
c.43132G>C (p.Asp14378His)
c.42991G>C (p.Asp14331His)
c.69034G>C (p.Asp23012His)
c.64432G>C (p.Asp21478His)
c.64429G>C (p.Asp21477His)
c.61471G>C (p.Asp20491His)
c.43087G>C (p.Asp14363His)
c.64582G>C (p.Asp21528His)
c.64579G>C (p.Asp21527His)
c.64012G>C (p.Asp21338His)
c.61354G>C (p.Asp20452His)
c.61273G>C (p.Asp20425His)
c.43036G>C (p.Asp14346His)
c.32890G>C (p.Asp10964His)
 dbSNP
2g.178575991C>TCA349664680TTN,TTN-AS1c.62437G>A (p.Asp20813Asn)
c.43522G>A (p.Asp14508Asn)
c.43321G>A (p.Asp14441Asn)
c.42946G>A (p.Asp14316Asn)
c.70141G>A (p.Asp23381Asn)
c.65218G>A (p.Asp21740Asn)
n.596+4542C>T
n.2044-6581C>T
c.69238G>A (p.Asp23080Asn)
c.43132G>A (p.Asp14378Asn)
c.42991G>A (p.Asp14331Asn)
c.69034G>A (p.Asp23012Asn)
c.64432G>A (p.Asp21478Asn)
c.64429G>A (p.Asp21477Asn)
c.61471G>A (p.Asp20491Asn)
c.43087G>A (p.Asp14363Asn)
c.64582G>A (p.Asp21528Asn)
c.64579G>A (p.Asp21527Asn)
c.64012G>A (p.Asp21338Asn)
c.61354G>A (p.Asp20452Asn)
c.61273G>A (p.Asp20425Asn)
c.43036G>A (p.Asp14346Asn)
c.32890G>A (p.Asp10964Asn)
 dbSNP gnomAD v4
2g.178575992T>ACA349664696TTN,TTN-AS1c.62436A>T (p.Lys20812Asn)
c.43521A>T (p.Lys14507Asn)
c.43320A>T (p.Lys14440Asn)
c.42945A>T (p.Lys14315Asn)
c.70140A>T (p.Lys23380Asn)
c.65217A>T (p.Lys21739Asn)
n.596+4543T>A
n.2044-6580T>A
c.69237A>T (p.Lys23079Asn)
c.43131A>T (p.Lys14377Asn)
c.42990A>T (p.Lys14330Asn)
c.69033A>T (p.Lys23011Asn)
c.64431A>T (p.Lys21477Asn)
c.64428A>T (p.Lys21476Asn)
c.61470A>T (p.Lys20490Asn)
c.43086A>T (p.Lys14362Asn)
c.64581A>T (p.Lys21527Asn)
c.64578A>T (p.Lys21526Asn)
c.64011A>T (p.Lys21337Asn)
c.61353A>T (p.Lys20451Asn)
c.61272A>T (p.Lys20424Asn)
c.43035A>T (p.Lys14345Asn)
c.32889A>T (p.Lys10963Asn)
2g.178575992T>CCA430258374TTN,TTN-AS1c.62436A>G (p.Lys20812=)
c.43521A>G (p.Lys14507=)
c.43320A>G (p.Lys14440=)
c.42945A>G (p.Lys14315=)
c.70140A>G (p.Lys23380=)
c.65217A>G (p.Lys21739=)
n.596+4543T>C
n.2044-6580T>C
c.69237A>G (p.Lys23079=)
c.43131A>G (p.Lys14377=)
c.42990A>G (p.Lys14330=)
c.69033A>G (p.Lys23011=)
c.64431A>G (p.Lys21477=)
c.64428A>G (p.Lys21476=)
c.61470A>G (p.Lys20490=)
c.43086A>G (p.Lys14362=)
c.64581A>G (p.Lys21527=)
c.64578A>G (p.Lys21526=)
c.64011A>G (p.Lys21337=)
c.61353A>G (p.Lys20451=)
c.61272A>G (p.Lys20424=)
c.43035A>G (p.Lys14345=)
c.32889A>G (p.Lys10963=)
2g.178575992T>GCA349664698TTN,TTN-AS1c.62436A>C (p.Lys20812Asn)
c.43521A>C (p.Lys14507Asn)
c.43320A>C (p.Lys14440Asn)
c.42945A>C (p.Lys14315Asn)
c.70140A>C (p.Lys23380Asn)
c.65217A>C (p.Lys21739Asn)
n.596+4543T>G
n.2044-6580T>G
c.69237A>C (p.Lys23079Asn)
c.43131A>C (p.Lys14377Asn)
c.42990A>C (p.Lys14330Asn)
c.69033A>C (p.Lys23011Asn)
c.64431A>C (p.Lys21477Asn)
c.64428A>C (p.Lys21476Asn)
c.61470A>C (p.Lys20490Asn)
c.43086A>C (p.Lys14362Asn)
c.64581A>C (p.Lys21527Asn)
c.64578A>C (p.Lys21526Asn)
c.64011A>C (p.Lys21337Asn)
c.61353A>C (p.Lys20451Asn)
c.61272A>C (p.Lys20424Asn)
c.43035A>C (p.Lys14345Asn)
c.32889A>C (p.Lys10963Asn)
2g.178575993T>ACA349664703TTN,TTN-AS1c.62435A>T (p.Lys20812Ile)
c.43520A>T (p.Lys14507Ile)
c.43319A>T (p.Lys14440Ile)
c.42944A>T (p.Lys14315Ile)
c.70139A>T (p.Lys23380Ile)
c.65216A>T (p.Lys21739Ile)
n.596+4544T>A
n.2044-6579T>A
c.69236A>T (p.Lys23079Ile)
c.43130A>T (p.Lys14377Ile)
c.42989A>T (p.Lys14330Ile)
c.69032A>T (p.Lys23011Ile)
c.64430A>T (p.Lys21477Ile)
c.64427A>T (p.Lys21476Ile)
c.61469A>T (p.Lys20490Ile)
c.43085A>T (p.Lys14362Ile)
c.64580A>T (p.Lys21527Ile)
c.64577A>T (p.Lys21526Ile)
c.64010A>T (p.Lys21337Ile)
c.61352A>T (p.Lys20451Ile)
c.61271A>T (p.Lys20424Ile)
c.43034A>T (p.Lys14345Ile)
c.32888A>T (p.Lys10963Ile)
2g.178575993T>CCA349664707TTN,TTN-AS1c.62435A>G (p.Lys20812Arg)
c.43520A>G (p.Lys14507Arg)
c.43319A>G (p.Lys14440Arg)
c.42944A>G (p.Lys14315Arg)
c.70139A>G (p.Lys23380Arg)
c.65216A>G (p.Lys21739Arg)
n.596+4544T>C
n.2044-6579T>C
c.69236A>G (p.Lys23079Arg)
c.43130A>G (p.Lys14377Arg)
c.42989A>G (p.Lys14330Arg)
c.69032A>G (p.Lys23011Arg)
c.64430A>G (p.Lys21477Arg)
c.64427A>G (p.Lys21476Arg)
c.61469A>G (p.Lys20490Arg)
c.43085A>G (p.Lys14362Arg)
c.64580A>G (p.Lys21527Arg)
c.64577A>G (p.Lys21526Arg)
c.64010A>G (p.Lys21337Arg)
c.61352A>G (p.Lys20451Arg)
c.61271A>G (p.Lys20424Arg)
c.43034A>G (p.Lys14345Arg)
c.32888A>G (p.Lys10963Arg)
 gnomAD v4
2g.178575993T>GCA349664705TTN,TTN-AS1c.62435A>C (p.Lys20812Thr)
c.43520A>C (p.Lys14507Thr)
c.43319A>C (p.Lys14440Thr)
c.42944A>C (p.Lys14315Thr)
c.70139A>C (p.Lys23380Thr)
c.65216A>C (p.Lys21739Thr)
n.596+4544T>G
n.2044-6579T>G
c.69236A>C (p.Lys23079Thr)
c.43130A>C (p.Lys14377Thr)
c.42989A>C (p.Lys14330Thr)
c.69032A>C (p.Lys23011Thr)
c.64430A>C (p.Lys21477Thr)
c.64427A>C (p.Lys21476Thr)
c.61469A>C (p.Lys20490Thr)
c.43085A>C (p.Lys14362Thr)
c.64580A>C (p.Lys21527Thr)
c.64577A>C (p.Lys21526Thr)
c.64010A>C (p.Lys21337Thr)
c.61352A>C (p.Lys20451Thr)
c.61271A>C (p.Lys20424Thr)
c.43034A>C (p.Lys14345Thr)
c.32888A>C (p.Lys10963Thr)
2g.178575994T>ACA349664709TTN,TTN-AS1c.62434A>T (p.Lys20812Ter)
c.43519A>T (p.Lys14507Ter)
c.43318A>T (p.Lys14440Ter)
c.42943A>T (p.Lys14315Ter)
c.70138A>T (p.Lys23380Ter)
c.65215A>T (p.Lys21739Ter)
n.596+4545T>A
n.2044-6578T>A
c.69235A>T (p.Lys23079Ter)
c.43129A>T (p.Lys14377Ter)
c.42988A>T (p.Lys14330Ter)
c.69031A>T (p.Lys23011Ter)
c.64429A>T (p.Lys21477Ter)
c.64426A>T (p.Lys21476Ter)
c.61468A>T (p.Lys20490Ter)
c.43084A>T (p.Lys14362Ter)
c.64579A>T (p.Lys21527Ter)
c.64576A>T (p.Lys21526Ter)
c.64009A>T (p.Lys21337Ter)
c.61351A>T (p.Lys20451Ter)
c.61270A>T (p.Lys20424Ter)
c.43033A>T (p.Lys14345Ter)
c.32887A>T (p.Lys10963Ter)
2g.178575994T>CCA349664714TTN,TTN-AS1c.62434A>G (p.Lys20812Glu)
c.43519A>G (p.Lys14507Glu)
c.43318A>G (p.Lys14440Glu)
c.42943A>G (p.Lys14315Glu)
c.70138A>G (p.Lys23380Glu)
c.65215A>G (p.Lys21739Glu)
n.596+4545T>C
n.2044-6578T>C
c.69235A>G (p.Lys23079Glu)
c.43129A>G (p.Lys14377Glu)
c.42988A>G (p.Lys14330Glu)
c.69031A>G (p.Lys23011Glu)
c.64429A>G (p.Lys21477Glu)
c.64426A>G (p.Lys21476Glu)
c.61468A>G (p.Lys20490Glu)
c.43084A>G (p.Lys14362Glu)
c.64579A>G (p.Lys21527Glu)
c.64576A>G (p.Lys21526Glu)
c.64009A>G (p.Lys21337Glu)
c.61351A>G (p.Lys20451Glu)
c.61270A>G (p.Lys20424Glu)
c.43033A>G (p.Lys14345Glu)
c.32887A>G (p.Lys10963Glu)
2g.178575994T>GCA349664712TTN,TTN-AS1c.62434A>C (p.Lys20812Gln)
c.43519A>C (p.Lys14507Gln)
c.43318A>C (p.Lys14440Gln)
c.42943A>C (p.Lys14315Gln)
c.70138A>C (p.Lys23380Gln)
c.65215A>C (p.Lys21739Gln)
n.596+4545T>G
n.2044-6578T>G
c.69235A>C (p.Lys23079Gln)
c.43129A>C (p.Lys14377Gln)
c.42988A>C (p.Lys14330Gln)
c.69031A>C (p.Lys23011Gln)
c.64429A>C (p.Lys21477Gln)
c.64426A>C (p.Lys21476Gln)
c.61468A>C (p.Lys20490Gln)
c.43084A>C (p.Lys14362Gln)
c.64579A>C (p.Lys21527Gln)
c.64576A>C (p.Lys21526Gln)
c.64009A>C (p.Lys21337Gln)
c.61351A>C (p.Lys20451Gln)
c.61270A>C (p.Lys20424Gln)
c.43033A>C (p.Lys14345Gln)
c.32887A>C (p.Lys10963Gln)
2g.178575994_178575995delinsCAACCTGAACA2580064934TTN,TTN-AS1c.62433_62434delinsTTCAGGTTG (p.Lys20812SerfsTer3)
c.43518_43519delinsTTCAGGTTG (p.Lys14507SerfsTer3)
c.43317_43318delinsTTCAGGTTG (p.Lys14440SerfsTer3)
c.42942_42943delinsTTCAGGTTG (p.Lys14315SerfsTer3)
c.70137_70138delinsTTCAGGTTG (p.Lys23380SerfsTer3)
c.65214_65215delinsTTCAGGTTG (p.Lys21739SerfsTer3)
n.596+4545_596+4546delinsCAACCTGAA
n.2044-6578_2044-6577delinsCAACCTGAA
c.69234_69235delinsTTCAGGTTG (p.Lys23079SerfsTer3)
c.43128_43129delinsTTCAGGTTG (p.Lys14377SerfsTer3)
c.42987_42988delinsTTCAGGTTG (p.Lys14330SerfsTer3)
c.69030_69031delinsTTCAGGTTG (p.Lys23011SerfsTer3)
c.64428_64429delinsTTCAGGTTG (p.Lys21477SerfsTer3)
c.64425_64426delinsTTCAGGTTG (p.Lys21476SerfsTer3)
c.61467_61468delinsTTCAGGTTG (p.Lys20490SerfsTer3)
c.43083_43084delinsTTCAGGTTG (p.Lys14362SerfsTer3)
c.64578_64579delinsTTCAGGTTG (p.Lys21527SerfsTer3)
c.64575_64576delinsTTCAGGTTG (p.Lys21526SerfsTer3)
c.64008_64009delinsTTCAGGTTG (p.Lys21337SerfsTer3)
c.61350_61351delinsTTCAGGTTG (p.Lys20451SerfsTer3)
c.61269_61270delinsTTCAGGTTG (p.Lys20424SerfsTer3)
c.43032_43033delinsTTCAGGTTG (p.Lys14345SerfsTer3)
c.32886_32887delinsTTCAGGTTG (p.Lys10963SerfsTer3)
 ClinVar
2g.178575995G>ACA1990831TTN,TTN-AS1c.62433C>T (p.Thr20811=)
c.43518C>T (p.Thr14506=)
c.43317C>T (p.Thr14439=)
c.42942C>T (p.Thr14314=)
c.70137C>T (p.Thr23379=)
c.65214C>T (p.Thr21738=)
n.596+4546G>A
n.2044-6577G>A
c.69234C>T (p.Thr23078=)
c.43128C>T (p.Thr14376=)
c.42987C>T (p.Thr14329=)
c.69030C>T (p.Thr23010=)
c.64428C>T (p.Thr21476=)
c.64425C>T (p.Thr21475=)
c.61467C>T (p.Thr20489=)
c.43083C>T (p.Thr14361=)
c.64578C>T (p.Thr21526=)
c.64575C>T (p.Thr21525=)
c.64008C>T (p.Thr21336=)
c.61350C>T (p.Thr20450=)
c.61269C>T (p.Thr20423=)
c.43032C>T (p.Thr14344=)
c.32886C>T (p.Thr10962=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178575995G>CCA430258375TTN,TTN-AS1c.62433C>G (p.Thr20811=)
c.43518C>G (p.Thr14506=)
c.43317C>G (p.Thr14439=)
c.42942C>G (p.Thr14314=)
c.70137C>G (p.Thr23379=)
c.65214C>G (p.Thr21738=)
n.596+4546G>C
n.2044-6577G>C
c.69234C>G (p.Thr23078=)
c.43128C>G (p.Thr14376=)
c.42987C>G (p.Thr14329=)
c.69030C>G (p.Thr23010=)
c.64428C>G (p.Thr21476=)
c.64425C>G (p.Thr21475=)
c.61467C>G (p.Thr20489=)
c.43083C>G (p.Thr14361=)
c.64578C>G (p.Thr21526=)
c.64575C>G (p.Thr21525=)
c.64008C>G (p.Thr21336=)
c.61350C>G (p.Thr20450=)
c.61269C>G (p.Thr20423=)
c.43032C>G (p.Thr14344=)
c.32886C>G (p.Thr10962=)

Number of alleles fetched