Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178544264delCA346773TTN,TTN-AS1c.88262del (p.Asn29421ThrfsTer2)
c.69347del (p.Asn23116ThrfsTer2)
c.69146del (p.Asn23049ThrfsTer2)
c.68771del (p.Asn22924ThrfsTer2)
c.95966del (p.Asn31989ThrfsTer2)
c.91043del (p.Asn30348ThrfsTer2)
n.446+20628del
n.2043+1903del
c.95063del (p.Asn31688ThrfsTer2)
c.68957del (p.Asn22986ThrfsTer2)
c.68816del (p.Asn22939ThrfsTer2)
c.94859del (p.Asn31620ThrfsTer2)
c.90257del (p.Asn30086ThrfsTer2)
c.90254del (p.Asn30085ThrfsTer2)
c.87296del (p.Asn29099ThrfsTer2)
c.68912del (p.Asn22971ThrfsTer2)
c.90407del (p.Asn30136ThrfsTer2)
c.90404del (p.Asn30135ThrfsTer2)
c.89837del (p.Asn29946ThrfsTer2)
c.87179del (p.Asn29060ThrfsTer2)
c.87098del (p.Asn29033ThrfsTer2)
c.68861del (p.Asn22954ThrfsTer2)
c.58715del (p.Asn19572ThrfsTer2)
 ClinVar dbSNP
2g.178544264T>ACA349455604TTN,TTN-AS1c.88261A>T (p.Asn29421Tyr)
c.69346A>T (p.Asn23116Tyr)
c.69145A>T (p.Asn23049Tyr)
c.68770A>T (p.Asn22924Tyr)
c.95965A>T (p.Asn31989Tyr)
c.91042A>T (p.Asn30348Tyr)
n.446+20628T>A
n.2043+1903T>A
c.95062A>T (p.Asn31688Tyr)
c.68956A>T (p.Asn22986Tyr)
c.68815A>T (p.Asn22939Tyr)
c.94858A>T (p.Asn31620Tyr)
c.90256A>T (p.Asn30086Tyr)
c.90253A>T (p.Asn30085Tyr)
c.87295A>T (p.Asn29099Tyr)
c.68911A>T (p.Asn22971Tyr)
c.90406A>T (p.Asn30136Tyr)
c.90403A>T (p.Asn30135Tyr)
c.89836A>T (p.Asn29946Tyr)
c.87178A>T (p.Asn29060Tyr)
c.87097A>T (p.Asn29033Tyr)
c.68860A>T (p.Asn22954Tyr)
c.58714A>T (p.Asn19572Tyr)
2g.178544264T>CCA349455606TTN,TTN-AS1c.88261A>G (p.Asn29421Asp)
c.69346A>G (p.Asn23116Asp)
c.69145A>G (p.Asn23049Asp)
c.68770A>G (p.Asn22924Asp)
c.95965A>G (p.Asn31989Asp)
c.91042A>G (p.Asn30348Asp)
n.446+20628T>C
n.2043+1903T>C
c.95062A>G (p.Asn31688Asp)
c.68956A>G (p.Asn22986Asp)
c.68815A>G (p.Asn22939Asp)
c.94858A>G (p.Asn31620Asp)
c.90256A>G (p.Asn30086Asp)
c.90253A>G (p.Asn30085Asp)
c.87295A>G (p.Asn29099Asp)
c.68911A>G (p.Asn22971Asp)
c.90406A>G (p.Asn30136Asp)
c.90403A>G (p.Asn30135Asp)
c.89836A>G (p.Asn29946Asp)
c.87178A>G (p.Asn29060Asp)
c.87097A>G (p.Asn29033Asp)
c.68860A>G (p.Asn22954Asp)
c.58714A>G (p.Asn19572Asp)
2g.178544264T>GCA349455610TTN,TTN-AS1c.88261A>C (p.Asn29421His)
c.69346A>C (p.Asn23116His)
c.69145A>C (p.Asn23049His)
c.68770A>C (p.Asn22924His)
c.95965A>C (p.Asn31989His)
c.91042A>C (p.Asn30348His)
n.446+20628T>G
n.2043+1903T>G
c.95062A>C (p.Asn31688His)
c.68956A>C (p.Asn22986His)
c.68815A>C (p.Asn22939His)
c.94858A>C (p.Asn31620His)
c.90256A>C (p.Asn30086His)
c.90253A>C (p.Asn30085His)
c.87295A>C (p.Asn29099His)
c.68911A>C (p.Asn22971His)
c.90406A>C (p.Asn30136His)
c.90403A>C (p.Asn30135His)
c.89836A>C (p.Asn29946His)
c.87178A>C (p.Asn29060His)
c.87097A>C (p.Asn29033His)
c.68860A>C (p.Asn22954His)
c.58714A>C (p.Asn19572His)
2g.178544265C>ACA430241538TTN,TTN-AS1c.88260G>T (p.Val29420=)
c.69345G>T (p.Val23115=)
c.69144G>T (p.Val23048=)
c.68769G>T (p.Val22923=)
c.95964G>T (p.Val31988=)
c.91041G>T (p.Val30347=)
n.446+20629C>A
n.2043+1904C>A
c.95061G>T (p.Val31687=)
c.68955G>T (p.Val22985=)
c.68814G>T (p.Val22938=)
c.94857G>T (p.Val31619=)
c.90255G>T (p.Val30085=)
c.90252G>T (p.Val30084=)
c.87294G>T (p.Val29098=)
c.68910G>T (p.Val22970=)
c.90405G>T (p.Val30135=)
c.90402G>T (p.Val30134=)
c.89835G>T (p.Val29945=)
c.87177G>T (p.Val29059=)
c.87096G>T (p.Val29032=)
c.68859G>T (p.Val22953=)
c.58713G>T (p.Val19571=)
2g.178544265C=CA1310521472TTN,TTN-AS1c.88260G= (p.Val29420=)
c.69345G= (p.Val23115=)
c.69144G= (p.Val23048=)
c.68769G= (p.Val22923=)
c.95964G= (p.Val31988=)
c.91041G= (p.Val30347=)
n.446+20629C=
n.2043+1904C=
c.95061G= (p.Val31687=)
c.68955G= (p.Val22985=)
c.68814G= (p.Val22938=)
c.94857G= (p.Val31619=)
c.90255G= (p.Val30085=)
c.90252G= (p.Val30084=)
c.87294G= (p.Val29098=)
c.68910G= (p.Val22970=)
c.90405G= (p.Val30135=)
c.90402G= (p.Val30134=)
c.89835G= (p.Val29945=)
c.87177G= (p.Val29059=)
c.87096G= (p.Val29032=)
c.68859G= (p.Val22953=)
c.58713G= (p.Val19571=)
2g.178544265C>GCA430241537TTN,TTN-AS1c.88260G>C (p.Val29420=)
c.69345G>C (p.Val23115=)
c.69144G>C (p.Val23048=)
c.68769G>C (p.Val22923=)
c.95964G>C (p.Val31988=)
c.91041G>C (p.Val30347=)
n.446+20629C>G
n.2043+1904C>G
c.95061G>C (p.Val31687=)
c.68955G>C (p.Val22985=)
c.68814G>C (p.Val22938=)
c.94857G>C (p.Val31619=)
c.90255G>C (p.Val30085=)
c.90252G>C (p.Val30084=)
c.87294G>C (p.Val29098=)
c.68910G>C (p.Val22970=)
c.90405G>C (p.Val30135=)
c.90402G>C (p.Val30134=)
c.89835G>C (p.Val29945=)
c.87177G>C (p.Val29059=)
c.87096G>C (p.Val29032=)
c.68859G>C (p.Val22953=)
c.58713G>C (p.Val19571=)
2g.178544265C>TCA430241536TTN,TTN-AS1c.88260G>A (p.Val29420=)
c.69345G>A (p.Val23115=)
c.69144G>A (p.Val23048=)
c.68769G>A (p.Val22923=)
c.95964G>A (p.Val31988=)
c.91041G>A (p.Val30347=)
n.446+20629C>T
n.2043+1904C>T
c.95061G>A (p.Val31687=)
c.68955G>A (p.Val22985=)
c.68814G>A (p.Val22938=)
c.94857G>A (p.Val31619=)
c.90255G>A (p.Val30085=)
c.90252G>A (p.Val30084=)
c.87294G>A (p.Val29098=)
c.68910G>A (p.Val22970=)
c.90405G>A (p.Val30135=)
c.90402G>A (p.Val30134=)
c.89835G>A (p.Val29945=)
c.87177G>A (p.Val29059=)
c.87096G>A (p.Val29032=)
c.68859G>A (p.Val22953=)
c.58713G>A (p.Val19571=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178544266A>CCA349455612TTN,TTN-AS1c.88259T>G (p.Val29420Gly)
c.69344T>G (p.Val23115Gly)
c.69143T>G (p.Val23048Gly)
c.68768T>G (p.Val22923Gly)
c.95963T>G (p.Val31988Gly)
c.91040T>G (p.Val30347Gly)
n.446+20630A>C
n.2043+1905A>C
c.95060T>G (p.Val31687Gly)
c.68954T>G (p.Val22985Gly)
c.68813T>G (p.Val22938Gly)
c.94856T>G (p.Val31619Gly)
c.90254T>G (p.Val30085Gly)
c.90251T>G (p.Val30084Gly)
c.87293T>G (p.Val29098Gly)
c.68909T>G (p.Val22970Gly)
c.90404T>G (p.Val30135Gly)
c.90401T>G (p.Val30134Gly)
c.89834T>G (p.Val29945Gly)
c.87176T>G (p.Val29059Gly)
c.87095T>G (p.Val29032Gly)
c.68858T>G (p.Val22953Gly)
c.58712T>G (p.Val19571Gly)
2g.178544266A>GCA349455619TTN,TTN-AS1c.88259T>C (p.Val29420Ala)
c.69344T>C (p.Val23115Ala)
c.69143T>C (p.Val23048Ala)
c.68768T>C (p.Val22923Ala)
c.95963T>C (p.Val31988Ala)
c.91040T>C (p.Val30347Ala)
n.446+20630A>G
n.2043+1905A>G
c.95060T>C (p.Val31687Ala)
c.68954T>C (p.Val22985Ala)
c.68813T>C (p.Val22938Ala)
c.94856T>C (p.Val31619Ala)
c.90254T>C (p.Val30085Ala)
c.90251T>C (p.Val30084Ala)
c.87293T>C (p.Val29098Ala)
c.68909T>C (p.Val22970Ala)
c.90404T>C (p.Val30135Ala)
c.90401T>C (p.Val30134Ala)
c.89834T>C (p.Val29945Ala)
c.87176T>C (p.Val29059Ala)
c.87095T>C (p.Val29032Ala)
c.68858T>C (p.Val22953Ala)
c.58712T>C (p.Val19571Ala)
2g.178544266A>TCA349455621TTN,TTN-AS1c.88259T>A (p.Val29420Glu)
c.69344T>A (p.Val23115Glu)
c.69143T>A (p.Val23048Glu)
c.68768T>A (p.Val22923Glu)
c.95963T>A (p.Val31988Glu)
c.91040T>A (p.Val30347Glu)
n.446+20630A>T
n.2043+1905A>T
c.95060T>A (p.Val31687Glu)
c.68954T>A (p.Val22985Glu)
c.68813T>A (p.Val22938Glu)
c.94856T>A (p.Val31619Glu)
c.90254T>A (p.Val30085Glu)
c.90251T>A (p.Val30084Glu)
c.87293T>A (p.Val29098Glu)
c.68909T>A (p.Val22970Glu)
c.90404T>A (p.Val30135Glu)
c.90401T>A (p.Val30134Glu)
c.89834T>A (p.Val29945Glu)
c.87176T>A (p.Val29059Glu)
c.87095T>A (p.Val29032Glu)
c.68858T>A (p.Val22953Glu)
c.58712T>A (p.Val19571Glu)
2g.178544267C>ACA349455623TTN,TTN-AS1c.88258G>T (p.Val29420Leu)
c.69343G>T (p.Val23115Leu)
c.69142G>T (p.Val23048Leu)
c.68767G>T (p.Val22923Leu)
c.95962G>T (p.Val31988Leu)
c.91039G>T (p.Val30347Leu)
n.446+20631C>A
n.2043+1906C>A
c.95059G>T (p.Val31687Leu)
c.68953G>T (p.Val22985Leu)
c.68812G>T (p.Val22938Leu)
c.94855G>T (p.Val31619Leu)
c.90253G>T (p.Val30085Leu)
c.90250G>T (p.Val30084Leu)
c.87292G>T (p.Val29098Leu)
c.68908G>T (p.Val22970Leu)
c.90403G>T (p.Val30135Leu)
c.90400G>T (p.Val30134Leu)
c.89833G>T (p.Val29945Leu)
c.87175G>T (p.Val29059Leu)
c.87094G>T (p.Val29032Leu)
c.68857G>T (p.Val22953Leu)
c.58711G>T (p.Val19571Leu)
2g.178544267C=CA1310521476TTN,TTN-AS1c.88258G= (p.Val29420=)
c.69343G= (p.Val23115=)
c.69142G= (p.Val23048=)
c.68767G= (p.Val22923=)
c.95962G= (p.Val31988=)
c.91039G= (p.Val30347=)
n.446+20631C=
n.2043+1906C=
c.95059G= (p.Val31687=)
c.68953G= (p.Val22985=)
c.68812G= (p.Val22938=)
c.94855G= (p.Val31619=)
c.90253G= (p.Val30085=)
c.90250G= (p.Val30084=)
c.87292G= (p.Val29098=)
c.68908G= (p.Val22970=)
c.90403G= (p.Val30135=)
c.90400G= (p.Val30134=)
c.89833G= (p.Val29945=)
c.87175G= (p.Val29059=)
c.87094G= (p.Val29032=)
c.68857G= (p.Val22953=)
c.58711G= (p.Val19571=)
2g.178544267C>GCA349455624TTN,TTN-AS1c.88258G>C (p.Val29420Leu)
c.69343G>C (p.Val23115Leu)
c.69142G>C (p.Val23048Leu)
c.68767G>C (p.Val22923Leu)
c.95962G>C (p.Val31988Leu)
c.91039G>C (p.Val30347Leu)
n.446+20631C>G
n.2043+1906C>G
c.95059G>C (p.Val31687Leu)
c.68953G>C (p.Val22985Leu)
c.68812G>C (p.Val22938Leu)
c.94855G>C (p.Val31619Leu)
c.90253G>C (p.Val30085Leu)
c.90250G>C (p.Val30084Leu)
c.87292G>C (p.Val29098Leu)
c.68908G>C (p.Val22970Leu)
c.90403G>C (p.Val30135Leu)
c.90400G>C (p.Val30134Leu)
c.89833G>C (p.Val29945Leu)
c.87175G>C (p.Val29059Leu)
c.87094G>C (p.Val29032Leu)
c.68857G>C (p.Val22953Leu)
c.58711G>C (p.Val19571Leu)
2g.178544267C>TCA310992TTN,TTN-AS1c.88258G>A (p.Val29420Met)
c.69343G>A (p.Val23115Met)
c.69142G>A (p.Val23048Met)
c.68767G>A (p.Val22923Met)
c.95962G>A (p.Val31988Met)
c.91039G>A (p.Val30347Met)
n.446+20631C>T
n.2043+1906C>T
c.95059G>A (p.Val31687Met)
c.68953G>A (p.Val22985Met)
c.68812G>A (p.Val22938Met)
c.94855G>A (p.Val31619Met)
c.90253G>A (p.Val30085Met)
c.90250G>A (p.Val30084Met)
c.87292G>A (p.Val29098Met)
c.68908G>A (p.Val22970Met)
c.90403G>A (p.Val30135Met)
c.90400G>A (p.Val30134Met)
c.89833G>A (p.Val29945Met)
c.87175G>A (p.Val29059Met)
c.87094G>A (p.Val29032Met)
c.68857G>A (p.Val22953Met)
c.58711G>A (p.Val19571Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178544268G>ACA1986851TTN,TTN-AS1c.88257C>T (p.Ala29419=)
c.69342C>T (p.Ala23114=)
c.69141C>T (p.Ala23047=)
c.68766C>T (p.Ala22922=)
c.95961C>T (p.Ala31987=)
c.91038C>T (p.Ala30346=)
n.446+20632G>A
n.2043+1907G>A
c.95058C>T (p.Ala31686=)
c.68952C>T (p.Ala22984=)
c.68811C>T (p.Ala22937=)
c.94854C>T (p.Ala31618=)
c.90252C>T (p.Ala30084=)
c.90249C>T (p.Ala30083=)
c.87291C>T (p.Ala29097=)
c.68907C>T (p.Ala22969=)
c.90402C>T (p.Ala30134=)
c.90399C>T (p.Ala30133=)
c.89832C>T (p.Ala29944=)
c.87174C>T (p.Ala29058=)
c.87093C>T (p.Ala29031=)
c.68856C>T (p.Ala22952=)
c.58710C>T (p.Ala19570=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178544268G>CCA430241548TTN,TTN-AS1c.88257C>G (p.Ala29419=)
c.69342C>G (p.Ala23114=)
c.69141C>G (p.Ala23047=)
c.68766C>G (p.Ala22922=)
c.95961C>G (p.Ala31987=)
c.91038C>G (p.Ala30346=)
n.446+20632G>C
n.2043+1907G>C
c.95058C>G (p.Ala31686=)
c.68952C>G (p.Ala22984=)
c.68811C>G (p.Ala22937=)
c.94854C>G (p.Ala31618=)
c.90252C>G (p.Ala30084=)
c.90249C>G (p.Ala30083=)
c.87291C>G (p.Ala29097=)
c.68907C>G (p.Ala22969=)
c.90402C>G (p.Ala30134=)
c.90399C>G (p.Ala30133=)
c.89832C>G (p.Ala29944=)
c.87174C>G (p.Ala29058=)
c.87093C>G (p.Ala29031=)
c.68856C>G (p.Ala22952=)
c.58710C>G (p.Ala19570=)
 dbSNP
2g.178544268G=CA1310521478TTN,TTN-AS1c.88257C= (p.Ala29419=)
c.69342C= (p.Ala23114=)
c.69141C= (p.Ala23047=)
c.68766C= (p.Ala22922=)
c.95961C= (p.Ala31987=)
c.91038C= (p.Ala30346=)
n.446+20632G=
n.2043+1907G=
c.95058C= (p.Ala31686=)
c.68952C= (p.Ala22984=)
c.68811C= (p.Ala22937=)
c.94854C= (p.Ala31618=)
c.90252C= (p.Ala30084=)
c.90249C= (p.Ala30083=)
c.87291C= (p.Ala29097=)
c.68907C= (p.Ala22969=)
c.90402C= (p.Ala30134=)
c.90399C= (p.Ala30133=)
c.89832C= (p.Ala29944=)
c.87174C= (p.Ala29058=)
c.87093C= (p.Ala29031=)
c.68856C= (p.Ala22952=)
c.58710C= (p.Ala19570=)
2g.178544268G>TCA430241552TTN,TTN-AS1c.88257C>A (p.Ala29419=)
c.69342C>A (p.Ala23114=)
c.69141C>A (p.Ala23047=)
c.68766C>A (p.Ala22922=)
c.95961C>A (p.Ala31987=)
c.91038C>A (p.Ala30346=)
n.446+20632G>T
n.2043+1907G>T
c.95058C>A (p.Ala31686=)
c.68952C>A (p.Ala22984=)
c.68811C>A (p.Ala22937=)
c.94854C>A (p.Ala31618=)
c.90252C>A (p.Ala30084=)
c.90249C>A (p.Ala30083=)
c.87291C>A (p.Ala29097=)
c.68907C>A (p.Ala22969=)
c.90402C>A (p.Ala30134=)
c.90399C>A (p.Ala30133=)
c.89832C>A (p.Ala29944=)
c.87174C>A (p.Ala29058=)
c.87093C>A (p.Ala29031=)
c.68856C>A (p.Ala22952=)
c.58710C>A (p.Ala19570=)
 ClinVar dbSNP
2g.178544269G>ACA349455631TTN,TTN-AS1c.88256C>T (p.Ala29419Val)
c.69341C>T (p.Ala23114Val)
c.69140C>T (p.Ala23047Val)
c.68765C>T (p.Ala22922Val)
c.95960C>T (p.Ala31987Val)
c.91037C>T (p.Ala30346Val)
n.446+20633G>A
n.2043+1908G>A
c.95057C>T (p.Ala31686Val)
c.68951C>T (p.Ala22984Val)
c.68810C>T (p.Ala22937Val)
c.94853C>T (p.Ala31618Val)
c.90251C>T (p.Ala30084Val)
c.90248C>T (p.Ala30083Val)
c.87290C>T (p.Ala29097Val)
c.68906C>T (p.Ala22969Val)
c.90401C>T (p.Ala30134Val)
c.90398C>T (p.Ala30133Val)
c.89831C>T (p.Ala29944Val)
c.87173C>T (p.Ala29058Val)
c.87092C>T (p.Ala29031Val)
c.68855C>T (p.Ala22952Val)
c.58709C>T (p.Ala19570Val)
2g.178544269G>CCA349455634TTN,TTN-AS1c.88256C>G (p.Ala29419Gly)
c.69341C>G (p.Ala23114Gly)
c.69140C>G (p.Ala23047Gly)
c.68765C>G (p.Ala22922Gly)
c.95960C>G (p.Ala31987Gly)
c.91037C>G (p.Ala30346Gly)
n.446+20633G>C
n.2043+1908G>C
c.95057C>G (p.Ala31686Gly)
c.68951C>G (p.Ala22984Gly)
c.68810C>G (p.Ala22937Gly)
c.94853C>G (p.Ala31618Gly)
c.90251C>G (p.Ala30084Gly)
c.90248C>G (p.Ala30083Gly)
c.87290C>G (p.Ala29097Gly)
c.68906C>G (p.Ala22969Gly)
c.90401C>G (p.Ala30134Gly)
c.90398C>G (p.Ala30133Gly)
c.89831C>G (p.Ala29944Gly)
c.87173C>G (p.Ala29058Gly)
c.87092C>G (p.Ala29031Gly)
c.68855C>G (p.Ala22952Gly)
c.58709C>G (p.Ala19570Gly)
2g.178544269G>TCA349455638TTN,TTN-AS1c.88256C>A (p.Ala29419Asp)
c.69341C>A (p.Ala23114Asp)
c.69140C>A (p.Ala23047Asp)
c.68765C>A (p.Ala22922Asp)
c.95960C>A (p.Ala31987Asp)
c.91037C>A (p.Ala30346Asp)
n.446+20633G>T
n.2043+1908G>T
c.95057C>A (p.Ala31686Asp)
c.68951C>A (p.Ala22984Asp)
c.68810C>A (p.Ala22937Asp)
c.94853C>A (p.Ala31618Asp)
c.90251C>A (p.Ala30084Asp)
c.90248C>A (p.Ala30083Asp)
c.87290C>A (p.Ala29097Asp)
c.68906C>A (p.Ala22969Asp)
c.90401C>A (p.Ala30134Asp)
c.90398C>A (p.Ala30133Asp)
c.89831C>A (p.Ala29944Asp)
c.87173C>A (p.Ala29058Asp)
c.87092C>A (p.Ala29031Asp)
c.68855C>A (p.Ala22952Asp)
c.58709C>A (p.Ala19570Asp)
2g.178544270C>ACA349455646TTN,TTN-AS1c.88255G>T (p.Ala29419Ser)
c.69340G>T (p.Ala23114Ser)
c.69139G>T (p.Ala23047Ser)
c.68764G>T (p.Ala22922Ser)
c.95959G>T (p.Ala31987Ser)
c.91036G>T (p.Ala30346Ser)
n.446+20634C>A
n.2043+1909C>A
c.95056G>T (p.Ala31686Ser)
c.68950G>T (p.Ala22984Ser)
c.68809G>T (p.Ala22937Ser)
c.94852G>T (p.Ala31618Ser)
c.90250G>T (p.Ala30084Ser)
c.90247G>T (p.Ala30083Ser)
c.87289G>T (p.Ala29097Ser)
c.68905G>T (p.Ala22969Ser)
c.90400G>T (p.Ala30134Ser)
c.90397G>T (p.Ala30133Ser)
c.89830G>T (p.Ala29944Ser)
c.87172G>T (p.Ala29058Ser)
c.87091G>T (p.Ala29031Ser)
c.68854G>T (p.Ala22952Ser)
c.58708G>T (p.Ala19570Ser)
 ClinVar gnomAD v4
2g.178544270C>GCA349455655TTN,TTN-AS1c.88255G>C (p.Ala29419Pro)
c.69340G>C (p.Ala23114Pro)
c.69139G>C (p.Ala23047Pro)
c.68764G>C (p.Ala22922Pro)
c.95959G>C (p.Ala31987Pro)
c.91036G>C (p.Ala30346Pro)
n.446+20634C>G
n.2043+1909C>G
c.95056G>C (p.Ala31686Pro)
c.68950G>C (p.Ala22984Pro)
c.68809G>C (p.Ala22937Pro)
c.94852G>C (p.Ala31618Pro)
c.90250G>C (p.Ala30084Pro)
c.90247G>C (p.Ala30083Pro)
c.87289G>C (p.Ala29097Pro)
c.68905G>C (p.Ala22969Pro)
c.90400G>C (p.Ala30134Pro)
c.90397G>C (p.Ala30133Pro)
c.89830G>C (p.Ala29944Pro)
c.87172G>C (p.Ala29058Pro)
c.87091G>C (p.Ala29031Pro)
c.68854G>C (p.Ala22952Pro)
c.58708G>C (p.Ala19570Pro)
2g.178544270C>TCA349455656TTN,TTN-AS1c.88255G>A (p.Ala29419Thr)
c.69340G>A (p.Ala23114Thr)
c.69139G>A (p.Ala23047Thr)
c.68764G>A (p.Ala22922Thr)
c.95959G>A (p.Ala31987Thr)
c.91036G>A (p.Ala30346Thr)
n.446+20634C>T
n.2043+1909C>T
c.95056G>A (p.Ala31686Thr)
c.68950G>A (p.Ala22984Thr)
c.68809G>A (p.Ala22937Thr)
c.94852G>A (p.Ala31618Thr)
c.90250G>A (p.Ala30084Thr)
c.90247G>A (p.Ala30083Thr)
c.87289G>A (p.Ala29097Thr)
c.68905G>A (p.Ala22969Thr)
c.90400G>A (p.Ala30134Thr)
c.90397G>A (p.Ala30133Thr)
c.89830G>A (p.Ala29944Thr)
c.87172G>A (p.Ala29058Thr)
c.87091G>A (p.Ala29031Thr)
c.68854G>A (p.Ala22952Thr)
c.58708G>A (p.Ala19570Thr)
2g.178544271A=CA1310521480TTN,TTN-AS1c.88254T= (p.Ala29418=)
c.69339T= (p.Ala23113=)
c.69138T= (p.Ala23046=)
c.68763T= (p.Ala22921=)
c.95958T= (p.Ala31986=)
c.91035T= (p.Ala30345=)
n.446+20635A=
n.2043+1910A=
c.95055T= (p.Ala31685=)
c.68949T= (p.Ala22983=)
c.68808T= (p.Ala22936=)
c.94851T= (p.Ala31617=)
c.90249T= (p.Ala30083=)
c.90246T= (p.Ala30082=)
c.87288T= (p.Ala29096=)
c.68904T= (p.Ala22968=)
c.90399T= (p.Ala30133=)
c.90396T= (p.Ala30132=)
c.89829T= (p.Ala29943=)
c.87171T= (p.Ala29057=)
c.87090T= (p.Ala29030=)
c.68853T= (p.Ala22951=)
c.58707T= (p.Ala19569=)
2g.178544271A>CCA430241557TTN,TTN-AS1c.88254T>G (p.Ala29418=)
c.69339T>G (p.Ala23113=)
c.69138T>G (p.Ala23046=)
c.68763T>G (p.Ala22921=)
c.95958T>G (p.Ala31986=)
c.91035T>G (p.Ala30345=)
n.446+20635A>C
n.2043+1910A>C
c.95055T>G (p.Ala31685=)
c.68949T>G (p.Ala22983=)
c.68808T>G (p.Ala22936=)
c.94851T>G (p.Ala31617=)
c.90249T>G (p.Ala30083=)
c.90246T>G (p.Ala30082=)
c.87288T>G (p.Ala29096=)
c.68904T>G (p.Ala22968=)
c.90399T>G (p.Ala30133=)
c.90396T>G (p.Ala30132=)
c.89829T>G (p.Ala29943=)
c.87171T>G (p.Ala29057=)
c.87090T>G (p.Ala29030=)
c.68853T>G (p.Ala22951=)
c.58707T>G (p.Ala19569=)
2g.178544271A>GCA430241558TTN,TTN-AS1c.88254T>C (p.Ala29418=)
c.69339T>C (p.Ala23113=)
c.69138T>C (p.Ala23046=)
c.68763T>C (p.Ala22921=)
c.95958T>C (p.Ala31986=)
c.91035T>C (p.Ala30345=)
n.446+20635A>G
n.2043+1910A>G
c.95055T>C (p.Ala31685=)
c.68949T>C (p.Ala22983=)
c.68808T>C (p.Ala22936=)
c.94851T>C (p.Ala31617=)
c.90249T>C (p.Ala30083=)
c.90246T>C (p.Ala30082=)
c.87288T>C (p.Ala29096=)
c.68904T>C (p.Ala22968=)
c.90399T>C (p.Ala30133=)
c.90396T>C (p.Ala30132=)
c.89829T>C (p.Ala29943=)
c.87171T>C (p.Ala29057=)
c.87090T>C (p.Ala29030=)
c.68853T>C (p.Ala22951=)
c.58707T>C (p.Ala19569=)
 dbSNP gnomAD v2 gnomAD v4
2g.178544271A>TCA430241559TTN,TTN-AS1c.88254T>A (p.Ala29418=)
c.69339T>A (p.Ala23113=)
c.69138T>A (p.Ala23046=)
c.68763T>A (p.Ala22921=)
c.95958T>A (p.Ala31986=)
c.91035T>A (p.Ala30345=)
n.446+20635A>T
n.2043+1910A>T
c.95055T>A (p.Ala31685=)
c.68949T>A (p.Ala22983=)
c.68808T>A (p.Ala22936=)
c.94851T>A (p.Ala31617=)
c.90249T>A (p.Ala30083=)
c.90246T>A (p.Ala30082=)
c.87288T>A (p.Ala29096=)
c.68904T>A (p.Ala22968=)
c.90399T>A (p.Ala30133=)
c.90396T>A (p.Ala30132=)
c.89829T>A (p.Ala29943=)
c.87171T>A (p.Ala29057=)
c.87090T>A (p.Ala29030=)
c.68853T>A (p.Ala22951=)
c.58707T>A (p.Ala19569=)
2g.178544272G>ACA349455657TTN,TTN-AS1c.88253C>T (p.Ala29418Val)
c.69338C>T (p.Ala23113Val)
c.69137C>T (p.Ala23046Val)
c.68762C>T (p.Ala22921Val)
c.95957C>T (p.Ala31986Val)
c.91034C>T (p.Ala30345Val)
n.446+20636G>A
n.2043+1911G>A
c.95054C>T (p.Ala31685Val)
c.68948C>T (p.Ala22983Val)
c.68807C>T (p.Ala22936Val)
c.94850C>T (p.Ala31617Val)
c.90248C>T (p.Ala30083Val)
c.90245C>T (p.Ala30082Val)
c.87287C>T (p.Ala29096Val)
c.68903C>T (p.Ala22968Val)
c.90398C>T (p.Ala30133Val)
c.90395C>T (p.Ala30132Val)
c.89828C>T (p.Ala29943Val)
c.87170C>T (p.Ala29057Val)
c.87089C>T (p.Ala29030Val)
c.68852C>T (p.Ala22951Val)
c.58706C>T (p.Ala19569Val)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178544272G>CCA349455659TTN,TTN-AS1c.88253C>G (p.Ala29418Gly)
c.69338C>G (p.Ala23113Gly)
c.69137C>G (p.Ala23046Gly)
c.68762C>G (p.Ala22921Gly)
c.95957C>G (p.Ala31986Gly)
c.91034C>G (p.Ala30345Gly)
n.446+20636G>C
n.2043+1911G>C
c.95054C>G (p.Ala31685Gly)
c.68948C>G (p.Ala22983Gly)
c.68807C>G (p.Ala22936Gly)
c.94850C>G (p.Ala31617Gly)
c.90248C>G (p.Ala30083Gly)
c.90245C>G (p.Ala30082Gly)
c.87287C>G (p.Ala29096Gly)
c.68903C>G (p.Ala22968Gly)
c.90398C>G (p.Ala30133Gly)
c.90395C>G (p.Ala30132Gly)
c.89828C>G (p.Ala29943Gly)
c.87170C>G (p.Ala29057Gly)
c.87089C>G (p.Ala29030Gly)
c.68852C>G (p.Ala22951Gly)
c.58706C>G (p.Ala19569Gly)
2g.178544272G>TCA349455664TTN,TTN-AS1c.88253C>A (p.Ala29418Asp)
c.69338C>A (p.Ala23113Asp)
c.69137C>A (p.Ala23046Asp)
c.68762C>A (p.Ala22921Asp)
c.95957C>A (p.Ala31986Asp)
c.91034C>A (p.Ala30345Asp)
n.446+20636G>T
n.2043+1911G>T
c.95054C>A (p.Ala31685Asp)
c.68948C>A (p.Ala22983Asp)
c.68807C>A (p.Ala22936Asp)
c.94850C>A (p.Ala31617Asp)
c.90248C>A (p.Ala30083Asp)
c.90245C>A (p.Ala30082Asp)
c.87287C>A (p.Ala29096Asp)
c.68903C>A (p.Ala22968Asp)
c.90398C>A (p.Ala30133Asp)
c.90395C>A (p.Ala30132Asp)
c.89828C>A (p.Ala29943Asp)
c.87170C>A (p.Ala29057Asp)
c.87089C>A (p.Ala29030Asp)
c.68852C>A (p.Ala22951Asp)
c.58706C>A (p.Ala19569Asp)
2g.178544273C>ACA349455676TTN,TTN-AS1c.88252G>T (p.Ala29418Ser)
c.69337G>T (p.Ala23113Ser)
c.69136G>T (p.Ala23046Ser)
c.68761G>T (p.Ala22921Ser)
c.95956G>T (p.Ala31986Ser)
c.91033G>T (p.Ala30345Ser)
n.446+20637C>A
n.2043+1912C>A
c.95053G>T (p.Ala31685Ser)
c.68947G>T (p.Ala22983Ser)
c.68806G>T (p.Ala22936Ser)
c.94849G>T (p.Ala31617Ser)
c.90247G>T (p.Ala30083Ser)
c.90244G>T (p.Ala30082Ser)
c.87286G>T (p.Ala29096Ser)
c.68902G>T (p.Ala22968Ser)
c.90397G>T (p.Ala30133Ser)
c.90394G>T (p.Ala30132Ser)
c.89827G>T (p.Ala29943Ser)
c.87169G>T (p.Ala29057Ser)
c.87088G>T (p.Ala29030Ser)
c.68851G>T (p.Ala22951Ser)
c.58705G>T (p.Ala19569Ser)
2g.178544273C>GCA349455682TTN,TTN-AS1c.88252G>C (p.Ala29418Pro)
c.69337G>C (p.Ala23113Pro)
c.69136G>C (p.Ala23046Pro)
c.68761G>C (p.Ala22921Pro)
c.95956G>C (p.Ala31986Pro)
c.91033G>C (p.Ala30345Pro)
n.446+20637C>G
n.2043+1912C>G
c.95053G>C (p.Ala31685Pro)
c.68947G>C (p.Ala22983Pro)
c.68806G>C (p.Ala22936Pro)
c.94849G>C (p.Ala31617Pro)
c.90247G>C (p.Ala30083Pro)
c.90244G>C (p.Ala30082Pro)
c.87286G>C (p.Ala29096Pro)
c.68902G>C (p.Ala22968Pro)
c.90397G>C (p.Ala30133Pro)
c.90394G>C (p.Ala30132Pro)
c.89827G>C (p.Ala29943Pro)
c.87169G>C (p.Ala29057Pro)
c.87088G>C (p.Ala29030Pro)
c.68851G>C (p.Ala22951Pro)
c.58705G>C (p.Ala19569Pro)
2g.178544273C>TCA349455686TTN,TTN-AS1c.88252G>A (p.Ala29418Thr)
c.69337G>A (p.Ala23113Thr)
c.69136G>A (p.Ala23046Thr)
c.68761G>A (p.Ala22921Thr)
c.95956G>A (p.Ala31986Thr)
c.91033G>A (p.Ala30345Thr)
n.446+20637C>T
n.2043+1912C>T
c.95053G>A (p.Ala31685Thr)
c.68947G>A (p.Ala22983Thr)
c.68806G>A (p.Ala22936Thr)
c.94849G>A (p.Ala31617Thr)
c.90247G>A (p.Ala30083Thr)
c.90244G>A (p.Ala30082Thr)
c.87286G>A (p.Ala29096Thr)
c.68902G>A (p.Ala22968Thr)
c.90397G>A (p.Ala30133Thr)
c.90394G>A (p.Ala30132Thr)
c.89827G>A (p.Ala29943Thr)
c.87169G>A (p.Ala29057Thr)
c.87088G>A (p.Ala29030Thr)
c.68851G>A (p.Ala22951Thr)
c.58705G>A (p.Ala19569Thr)
2g.178544274A>CCA430241566TTN,TTN-AS1c.88251T>G (p.Val29417=)
c.69336T>G (p.Val23112=)
c.69135T>G (p.Val23045=)
c.68760T>G (p.Val22920=)
c.95955T>G (p.Val31985=)
c.91032T>G (p.Val30344=)
n.446+20638A>C
n.2043+1913A>C
c.95052T>G (p.Val31684=)
c.68946T>G (p.Val22982=)
c.68805T>G (p.Val22935=)
c.94848T>G (p.Val31616=)
c.90246T>G (p.Val30082=)
c.90243T>G (p.Val30081=)
c.87285T>G (p.Val29095=)
c.68901T>G (p.Val22967=)
c.90396T>G (p.Val30132=)
c.90393T>G (p.Val30131=)
c.89826T>G (p.Val29942=)
c.87168T>G (p.Val29056=)
c.87087T>G (p.Val29029=)
c.68850T>G (p.Val22950=)
c.58704T>G (p.Val19568=)
2g.178544274A>GCA430241567TTN,TTN-AS1c.88251T>C (p.Val29417=)
c.69336T>C (p.Val23112=)
c.69135T>C (p.Val23045=)
c.68760T>C (p.Val22920=)
c.95955T>C (p.Val31985=)
c.91032T>C (p.Val30344=)
n.446+20638A>G
n.2043+1913A>G
c.95052T>C (p.Val31684=)
c.68946T>C (p.Val22982=)
c.68805T>C (p.Val22935=)
c.94848T>C (p.Val31616=)
c.90246T>C (p.Val30082=)
c.90243T>C (p.Val30081=)
c.87285T>C (p.Val29095=)
c.68901T>C (p.Val22967=)
c.90396T>C (p.Val30132=)
c.90393T>C (p.Val30131=)
c.89826T>C (p.Val29942=)
c.87168T>C (p.Val29056=)
c.87087T>C (p.Val29029=)
c.68850T>C (p.Val22950=)
c.58704T>C (p.Val19568=)
2g.178544274A>TCA430241570TTN,TTN-AS1c.88251T>A (p.Val29417=)
c.69336T>A (p.Val23112=)
c.69135T>A (p.Val23045=)
c.68760T>A (p.Val22920=)
c.95955T>A (p.Val31985=)
c.91032T>A (p.Val30344=)
n.446+20638A>T
n.2043+1913A>T
c.95052T>A (p.Val31684=)
c.68946T>A (p.Val22982=)
c.68805T>A (p.Val22935=)
c.94848T>A (p.Val31616=)
c.90246T>A (p.Val30082=)
c.90243T>A (p.Val30081=)
c.87285T>A (p.Val29095=)
c.68901T>A (p.Val22967=)
c.90396T>A (p.Val30132=)
c.90393T>A (p.Val30131=)
c.89826T>A (p.Val29942=)
c.87168T>A (p.Val29056=)
c.87087T>A (p.Val29029=)
c.68850T>A (p.Val22950=)
c.58704T>A (p.Val19568=)
2g.178544275A=CA1310521482TTN,TTN-AS1c.88250T= (p.Val29417=)
c.69335T= (p.Val23112=)
c.69134T= (p.Val23045=)
c.68759T= (p.Val22920=)
c.95954T= (p.Val31985=)
c.91031T= (p.Val30344=)
n.446+20639A=
n.2043+1914A=
c.95051T= (p.Val31684=)
c.68945T= (p.Val22982=)
c.68804T= (p.Val22935=)
c.94847T= (p.Val31616=)
c.90245T= (p.Val30082=)
c.90242T= (p.Val30081=)
c.87284T= (p.Val29095=)
c.68900T= (p.Val22967=)
c.90395T= (p.Val30132=)
c.90392T= (p.Val30131=)
c.89825T= (p.Val29942=)
c.87167T= (p.Val29056=)
c.87086T= (p.Val29029=)
c.68849T= (p.Val22950=)
c.58703T= (p.Val19568=)
2g.178544275A>CCA349455689TTN,TTN-AS1c.88250T>G (p.Val29417Gly)
c.69335T>G (p.Val23112Gly)
c.69134T>G (p.Val23045Gly)
c.68759T>G (p.Val22920Gly)
c.95954T>G (p.Val31985Gly)
c.91031T>G (p.Val30344Gly)
n.446+20639A>C
n.2043+1914A>C
c.95051T>G (p.Val31684Gly)
c.68945T>G (p.Val22982Gly)
c.68804T>G (p.Val22935Gly)
c.94847T>G (p.Val31616Gly)
c.90245T>G (p.Val30082Gly)
c.90242T>G (p.Val30081Gly)
c.87284T>G (p.Val29095Gly)
c.68900T>G (p.Val22967Gly)
c.90395T>G (p.Val30132Gly)
c.90392T>G (p.Val30131Gly)
c.89825T>G (p.Val29942Gly)
c.87167T>G (p.Val29056Gly)
c.87086T>G (p.Val29029Gly)
c.68849T>G (p.Val22950Gly)
c.58703T>G (p.Val19568Gly)
2g.178544275A>GCA349455688TTN,TTN-AS1c.88250T>C (p.Val29417Ala)
c.69335T>C (p.Val23112Ala)
c.69134T>C (p.Val23045Ala)
c.68759T>C (p.Val22920Ala)
c.95954T>C (p.Val31985Ala)
c.91031T>C (p.Val30344Ala)
n.446+20639A>G
n.2043+1914A>G
c.95051T>C (p.Val31684Ala)
c.68945T>C (p.Val22982Ala)
c.68804T>C (p.Val22935Ala)
c.94847T>C (p.Val31616Ala)
c.90245T>C (p.Val30082Ala)
c.90242T>C (p.Val30081Ala)
c.87284T>C (p.Val29095Ala)
c.68900T>C (p.Val22967Ala)
c.90395T>C (p.Val30132Ala)
c.90392T>C (p.Val30131Ala)
c.89825T>C (p.Val29942Ala)
c.87167T>C (p.Val29056Ala)
c.87086T>C (p.Val29029Ala)
c.68849T>C (p.Val22950Ala)
c.58703T>C (p.Val19568Ala)
2g.178544275A>TCA349455687TTN,TTN-AS1c.88250T>A (p.Val29417Asp)
c.69335T>A (p.Val23112Asp)
c.69134T>A (p.Val23045Asp)
c.68759T>A (p.Val22920Asp)
c.95954T>A (p.Val31985Asp)
c.91031T>A (p.Val30344Asp)
n.446+20639A>T
n.2043+1914A>T
c.95051T>A (p.Val31684Asp)
c.68945T>A (p.Val22982Asp)
c.68804T>A (p.Val22935Asp)
c.94847T>A (p.Val31616Asp)
c.90245T>A (p.Val30082Asp)
c.90242T>A (p.Val30081Asp)
c.87284T>A (p.Val29095Asp)
c.68900T>A (p.Val22967Asp)
c.90395T>A (p.Val30132Asp)
c.90392T>A (p.Val30131Asp)
c.89825T>A (p.Val29942Asp)
c.87167T>A (p.Val29056Asp)
c.87086T>A (p.Val29029Asp)
c.68849T>A (p.Val22950Asp)
c.58703T>A (p.Val19568Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.178544276C>ACA349455697TTN,TTN-AS1c.88249G>T (p.Val29417Phe)
c.69334G>T (p.Val23112Phe)
c.69133G>T (p.Val23045Phe)
c.68758G>T (p.Val22920Phe)
c.95953G>T (p.Val31985Phe)
c.91030G>T (p.Val30344Phe)
n.446+20640C>A
n.2043+1915C>A
c.95050G>T (p.Val31684Phe)
c.68944G>T (p.Val22982Phe)
c.68803G>T (p.Val22935Phe)
c.94846G>T (p.Val31616Phe)
c.90244G>T (p.Val30082Phe)
c.90241G>T (p.Val30081Phe)
c.87283G>T (p.Val29095Phe)
c.68899G>T (p.Val22967Phe)
c.90394G>T (p.Val30132Phe)
c.90391G>T (p.Val30131Phe)
c.89824G>T (p.Val29942Phe)
c.87166G>T (p.Val29056Phe)
c.87085G>T (p.Val29029Phe)
c.68848G>T (p.Val22950Phe)
c.58702G>T (p.Val19568Phe)
2g.178544276C=CA1310521484TTN,TTN-AS1c.88249G= (p.Val29417=)
c.69334G= (p.Val23112=)
c.69133G= (p.Val23045=)
c.68758G= (p.Val22920=)
c.95953G= (p.Val31985=)
c.91030G= (p.Val30344=)
n.446+20640C=
n.2043+1915C=
c.95050G= (p.Val31684=)
c.68944G= (p.Val22982=)
c.68803G= (p.Val22935=)
c.94846G= (p.Val31616=)
c.90244G= (p.Val30082=)
c.90241G= (p.Val30081=)
c.87283G= (p.Val29095=)
c.68899G= (p.Val22967=)
c.90394G= (p.Val30132=)
c.90391G= (p.Val30131=)
c.89824G= (p.Val29942=)
c.87166G= (p.Val29056=)
c.87085G= (p.Val29029=)
c.68848G= (p.Val22950=)
c.58702G= (p.Val19568=)
2g.178544276C>GCA349455690TTN,TTN-AS1c.88249G>C (p.Val29417Leu)
c.69334G>C (p.Val23112Leu)
c.69133G>C (p.Val23045Leu)
c.68758G>C (p.Val22920Leu)
c.95953G>C (p.Val31985Leu)
c.91030G>C (p.Val30344Leu)
n.446+20640C>G
n.2043+1915C>G
c.95050G>C (p.Val31684Leu)
c.68944G>C (p.Val22982Leu)
c.68803G>C (p.Val22935Leu)
c.94846G>C (p.Val31616Leu)
c.90244G>C (p.Val30082Leu)
c.90241G>C (p.Val30081Leu)
c.87283G>C (p.Val29095Leu)
c.68899G>C (p.Val22967Leu)
c.90394G>C (p.Val30132Leu)
c.90391G>C (p.Val30131Leu)
c.89824G>C (p.Val29942Leu)
c.87166G>C (p.Val29056Leu)
c.87085G>C (p.Val29029Leu)
c.68848G>C (p.Val22950Leu)
c.58702G>C (p.Val19568Leu)
2g.178544276C>TCA1986852TTN,TTN-AS1c.88249G>A (p.Val29417Ile)
c.69334G>A (p.Val23112Ile)
c.69133G>A (p.Val23045Ile)
c.68758G>A (p.Val22920Ile)
c.95953G>A (p.Val31985Ile)
c.91030G>A (p.Val30344Ile)
n.446+20640C>T
n.2043+1915C>T
c.95050G>A (p.Val31684Ile)
c.68944G>A (p.Val22982Ile)
c.68803G>A (p.Val22935Ile)
c.94846G>A (p.Val31616Ile)
c.90244G>A (p.Val30082Ile)
c.90241G>A (p.Val30081Ile)
c.87283G>A (p.Val29095Ile)
c.68899G>A (p.Val22967Ile)
c.90394G>A (p.Val30132Ile)
c.90391G>A (p.Val30131Ile)
c.89824G>A (p.Val29942Ile)
c.87166G>A (p.Val29056Ile)
c.87085G>A (p.Val29029Ile)
c.68848G>A (p.Val22950Ile)
c.58702G>A (p.Val19568Ile)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2g.178544277T>ACA349455701TTN,TTN-AS1c.88248A>T (p.Arg29416Ser)
c.69333A>T (p.Arg23111Ser)
c.69132A>T (p.Arg23044Ser)
c.68757A>T (p.Arg22919Ser)
c.95952A>T (p.Arg31984Ser)
c.91029A>T (p.Arg30343Ser)
n.446+20641T>A
n.2043+1916T>A
c.95049A>T (p.Arg31683Ser)
c.68943A>T (p.Arg22981Ser)
c.68802A>T (p.Arg22934Ser)
c.94845A>T (p.Arg31615Ser)
c.90243A>T (p.Arg30081Ser)
c.90240A>T (p.Arg30080Ser)
c.87282A>T (p.Arg29094Ser)
c.68898A>T (p.Arg22966Ser)
c.90393A>T (p.Arg30131Ser)
c.90390A>T (p.Arg30130Ser)
c.89823A>T (p.Arg29941Ser)
c.87165A>T (p.Arg29055Ser)
c.87084A>T (p.Arg29028Ser)
c.68847A>T (p.Arg22949Ser)
c.58701A>T (p.Arg19567Ser)
2g.178544277T>CCA430241578TTN,TTN-AS1c.88248A>G (p.Arg29416=)
c.69333A>G (p.Arg23111=)
c.69132A>G (p.Arg23044=)
c.68757A>G (p.Arg22919=)
c.95952A>G (p.Arg31984=)
c.91029A>G (p.Arg30343=)
n.446+20641T>C
n.2043+1916T>C
c.95049A>G (p.Arg31683=)
c.68943A>G (p.Arg22981=)
c.68802A>G (p.Arg22934=)
c.94845A>G (p.Arg31615=)
c.90243A>G (p.Arg30081=)
c.90240A>G (p.Arg30080=)
c.87282A>G (p.Arg29094=)
c.68898A>G (p.Arg22966=)
c.90393A>G (p.Arg30131=)
c.90390A>G (p.Arg30130=)
c.89823A>G (p.Arg29941=)
c.87165A>G (p.Arg29055=)
c.87084A>G (p.Arg29028=)
c.68847A>G (p.Arg22949=)
c.58701A>G (p.Arg19567=)
2g.178544277T>GCA349455717TTN,TTN-AS1c.88248A>C (p.Arg29416Ser)
c.69333A>C (p.Arg23111Ser)
c.69132A>C (p.Arg23044Ser)
c.68757A>C (p.Arg22919Ser)
c.95952A>C (p.Arg31984Ser)
c.91029A>C (p.Arg30343Ser)
n.446+20641T>G
n.2043+1916T>G
c.95049A>C (p.Arg31683Ser)
c.68943A>C (p.Arg22981Ser)
c.68802A>C (p.Arg22934Ser)
c.94845A>C (p.Arg31615Ser)
c.90243A>C (p.Arg30081Ser)
c.90240A>C (p.Arg30080Ser)
c.87282A>C (p.Arg29094Ser)
c.68898A>C (p.Arg22966Ser)
c.90393A>C (p.Arg30131Ser)
c.90390A>C (p.Arg30130Ser)
c.89823A>C (p.Arg29941Ser)
c.87165A>C (p.Arg29055Ser)
c.87084A>C (p.Arg29028Ser)
c.68847A>C (p.Arg22949Ser)
c.58701A>C (p.Arg19567Ser)
 gnomAD v4
2g.178544278C>ACA349455722TTN,TTN-AS1c.88247G>T (p.Arg29416Ile)
c.69332G>T (p.Arg23111Ile)
c.69131G>T (p.Arg23044Ile)
c.68756G>T (p.Arg22919Ile)
c.95951G>T (p.Arg31984Ile)
c.91028G>T (p.Arg30343Ile)
n.446+20642C>A
n.2043+1917C>A
c.95048G>T (p.Arg31683Ile)
c.68942G>T (p.Arg22981Ile)
c.68801G>T (p.Arg22934Ile)
c.94844G>T (p.Arg31615Ile)
c.90242G>T (p.Arg30081Ile)
c.90239G>T (p.Arg30080Ile)
c.87281G>T (p.Arg29094Ile)
c.68897G>T (p.Arg22966Ile)
c.90392G>T (p.Arg30131Ile)
c.90389G>T (p.Arg30130Ile)
c.89822G>T (p.Arg29941Ile)
c.87164G>T (p.Arg29055Ile)
c.87083G>T (p.Arg29028Ile)
c.68846G>T (p.Arg22949Ile)
c.58700G>T (p.Arg19567Ile)

Number of alleles fetched