Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178614631C>ACA1994729TTN,TTN-AS1c.41179G>T (p.Ala13727Ser)
c.22264G>T (p.Ala7422Ser)
c.22063G>T (p.Ala7355Ser)
c.21688G>T (p.Ala7230Ser)
c.48883G>T (p.Ala16295Ser)
c.43960G>T (p.Ala14654Ser)
n.1379C>A
c.47980G>T (p.Ala15994Ser)
c.21874G>T (p.Ala7292Ser)
c.21733G>T (p.Ala7245Ser)
c.47776G>T (p.Ala15926Ser)
c.43174G>T (p.Ala14392Ser)
c.43171G>T (p.Ala14391Ser)
c.40213G>T (p.Ala13405Ser)
c.21829G>T (p.Ala7277Ser)
c.43324G>T (p.Ala14442Ser)
c.43321G>T (p.Ala14441Ser)
c.42754G>T (p.Ala14252Ser)
c.40096G>T (p.Ala13366Ser)
c.40015G>T (p.Ala13339Ser)
c.21778G>T (p.Ala7260Ser)
c.11632G>T (p.Ala3878Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178614631C=CA1310549450TTN,TTN-AS1c.41179G= (p.Ala13727=)
c.22264G= (p.Ala7422=)
c.22063G= (p.Ala7355=)
c.21688G= (p.Ala7230=)
c.48883G= (p.Ala16295=)
c.43960G= (p.Ala14654=)
n.1379C=
c.47980G= (p.Ala15994=)
c.21874G= (p.Ala7292=)
c.21733G= (p.Ala7245=)
c.47776G= (p.Ala15926=)
c.43174G= (p.Ala14392=)
c.43171G= (p.Ala14391=)
c.40213G= (p.Ala13405=)
c.21829G= (p.Ala7277=)
c.43324G= (p.Ala14442=)
c.43321G= (p.Ala14441=)
c.42754G= (p.Ala14252=)
c.40096G= (p.Ala13366=)
c.40015G= (p.Ala13339=)
c.21778G= (p.Ala7260=)
c.11632G= (p.Ala3878=)
2g.178614631C>GCA349607588TTN,TTN-AS1c.41179G>C (p.Ala13727Pro)
c.22264G>C (p.Ala7422Pro)
c.22063G>C (p.Ala7355Pro)
c.21688G>C (p.Ala7230Pro)
c.48883G>C (p.Ala16295Pro)
c.43960G>C (p.Ala14654Pro)
n.1379C>G
c.47980G>C (p.Ala15994Pro)
c.21874G>C (p.Ala7292Pro)
c.21733G>C (p.Ala7245Pro)
c.47776G>C (p.Ala15926Pro)
c.43174G>C (p.Ala14392Pro)
c.43171G>C (p.Ala14391Pro)
c.40213G>C (p.Ala13405Pro)
c.21829G>C (p.Ala7277Pro)
c.43324G>C (p.Ala14442Pro)
c.43321G>C (p.Ala14441Pro)
c.42754G>C (p.Ala14252Pro)
c.40096G>C (p.Ala13366Pro)
c.40015G>C (p.Ala13339Pro)
c.21778G>C (p.Ala7260Pro)
c.11632G>C (p.Ala3878Pro)
2g.178614631C>TCA349607587TTN,TTN-AS1c.41179G>A (p.Ala13727Thr)
c.22264G>A (p.Ala7422Thr)
c.22063G>A (p.Ala7355Thr)
c.21688G>A (p.Ala7230Thr)
c.48883G>A (p.Ala16295Thr)
c.43960G>A (p.Ala14654Thr)
n.1379C>T
c.47980G>A (p.Ala15994Thr)
c.21874G>A (p.Ala7292Thr)
c.21733G>A (p.Ala7245Thr)
c.47776G>A (p.Ala15926Thr)
c.43174G>A (p.Ala14392Thr)
c.43171G>A (p.Ala14391Thr)
c.40213G>A (p.Ala13405Thr)
c.21829G>A (p.Ala7277Thr)
c.43324G>A (p.Ala14442Thr)
c.43321G>A (p.Ala14441Thr)
c.42754G>A (p.Ala14252Thr)
c.40096G>A (p.Ala13366Thr)
c.40015G>A (p.Ala13339Thr)
c.21778G>A (p.Ala7260Thr)
c.11632G>A (p.Ala3878Thr)
2g.178614632C>ACA349607590TTN,TTN-AS1c.41178G>T (p.Lys13726Asn)
c.22263G>T (p.Lys7421Asn)
c.22062G>T (p.Lys7354Asn)
c.21687G>T (p.Lys7229Asn)
c.48882G>T (p.Lys16294Asn)
c.43959G>T (p.Lys14653Asn)
n.1380C>A
c.47979G>T (p.Lys15993Asn)
c.21873G>T (p.Lys7291Asn)
c.21732G>T (p.Lys7244Asn)
c.47775G>T (p.Lys15925Asn)
c.43173G>T (p.Lys14391Asn)
c.43170G>T (p.Lys14390Asn)
c.40212G>T (p.Lys13404Asn)
c.21828G>T (p.Lys7276Asn)
c.43323G>T (p.Lys14441Asn)
c.43320G>T (p.Lys14440Asn)
c.42753G>T (p.Lys14251Asn)
c.40095G>T (p.Lys13365Asn)
c.40014G>T (p.Lys13338Asn)
c.21777G>T (p.Lys7259Asn)
c.11631G>T (p.Lys3877Asn)
2g.178614632C>GCA349607591TTN,TTN-AS1c.41178G>C (p.Lys13726Asn)
c.22263G>C (p.Lys7421Asn)
c.22062G>C (p.Lys7354Asn)
c.21687G>C (p.Lys7229Asn)
c.48882G>C (p.Lys16294Asn)
c.43959G>C (p.Lys14653Asn)
n.1380C>G
c.47979G>C (p.Lys15993Asn)
c.21873G>C (p.Lys7291Asn)
c.21732G>C (p.Lys7244Asn)
c.47775G>C (p.Lys15925Asn)
c.43173G>C (p.Lys14391Asn)
c.43170G>C (p.Lys14390Asn)
c.40212G>C (p.Lys13404Asn)
c.21828G>C (p.Lys7276Asn)
c.43323G>C (p.Lys14441Asn)
c.43320G>C (p.Lys14440Asn)
c.42753G>C (p.Lys14251Asn)
c.40095G>C (p.Lys13365Asn)
c.40014G>C (p.Lys13338Asn)
c.21777G>C (p.Lys7259Asn)
c.11631G>C (p.Lys3877Asn)
2g.178614632C>TCA430273782TTN,TTN-AS1c.41178G>A (p.Lys13726=)
c.22263G>A (p.Lys7421=)
c.22062G>A (p.Lys7354=)
c.21687G>A (p.Lys7229=)
c.48882G>A (p.Lys16294=)
c.43959G>A (p.Lys14653=)
n.1380C>T
c.47979G>A (p.Lys15993=)
c.21873G>A (p.Lys7291=)
c.21732G>A (p.Lys7244=)
c.47775G>A (p.Lys15925=)
c.43173G>A (p.Lys14391=)
c.43170G>A (p.Lys14390=)
c.40212G>A (p.Lys13404=)
c.21828G>A (p.Lys7276=)
c.43323G>A (p.Lys14441=)
c.43320G>A (p.Lys14440=)
c.42753G>A (p.Lys14251=)
c.40095G>A (p.Lys13365=)
c.40014G>A (p.Lys13338=)
c.21777G>A (p.Lys7259=)
c.11631G>A (p.Lys3877=)
2g.178614633T>ACA349607594TTN,TTN-AS1c.41177A>T (p.Lys13726Met)
c.22262A>T (p.Lys7421Met)
c.22061A>T (p.Lys7354Met)
c.21686A>T (p.Lys7229Met)
c.48881A>T (p.Lys16294Met)
c.43958A>T (p.Lys14653Met)
n.1381T>A
c.47978A>T (p.Lys15993Met)
c.21872A>T (p.Lys7291Met)
c.21731A>T (p.Lys7244Met)
c.47774A>T (p.Lys15925Met)
c.43172A>T (p.Lys14391Met)
c.43169A>T (p.Lys14390Met)
c.40211A>T (p.Lys13404Met)
c.21827A>T (p.Lys7276Met)
c.43322A>T (p.Lys14441Met)
c.43319A>T (p.Lys14440Met)
c.42752A>T (p.Lys14251Met)
c.40094A>T (p.Lys13365Met)
c.40013A>T (p.Lys13338Met)
c.21776A>T (p.Lys7259Met)
c.11630A>T (p.Lys3877Met)
2g.178614633T>CCA349607596TTN,TTN-AS1c.41177A>G (p.Lys13726Arg)
c.22262A>G (p.Lys7421Arg)
c.22061A>G (p.Lys7354Arg)
c.21686A>G (p.Lys7229Arg)
c.48881A>G (p.Lys16294Arg)
c.43958A>G (p.Lys14653Arg)
n.1381T>C
c.47978A>G (p.Lys15993Arg)
c.21872A>G (p.Lys7291Arg)
c.21731A>G (p.Lys7244Arg)
c.47774A>G (p.Lys15925Arg)
c.43172A>G (p.Lys14391Arg)
c.43169A>G (p.Lys14390Arg)
c.40211A>G (p.Lys13404Arg)
c.21827A>G (p.Lys7276Arg)
c.43322A>G (p.Lys14441Arg)
c.43319A>G (p.Lys14440Arg)
c.42752A>G (p.Lys14251Arg)
c.40094A>G (p.Lys13365Arg)
c.40013A>G (p.Lys13338Arg)
c.21776A>G (p.Lys7259Arg)
c.11630A>G (p.Lys3877Arg)
2g.178614633T>GCA349607597TTN,TTN-AS1c.41177A>C (p.Lys13726Thr)
c.22262A>C (p.Lys7421Thr)
c.22061A>C (p.Lys7354Thr)
c.21686A>C (p.Lys7229Thr)
c.48881A>C (p.Lys16294Thr)
c.43958A>C (p.Lys14653Thr)
n.1381T>G
c.47978A>C (p.Lys15993Thr)
c.21872A>C (p.Lys7291Thr)
c.21731A>C (p.Lys7244Thr)
c.47774A>C (p.Lys15925Thr)
c.43172A>C (p.Lys14391Thr)
c.43169A>C (p.Lys14390Thr)
c.40211A>C (p.Lys13404Thr)
c.21827A>C (p.Lys7276Thr)
c.43322A>C (p.Lys14441Thr)
c.43319A>C (p.Lys14440Thr)
c.42752A>C (p.Lys14251Thr)
c.40094A>C (p.Lys13365Thr)
c.40013A>C (p.Lys13338Thr)
c.21776A>C (p.Lys7259Thr)
c.11630A>C (p.Lys3877Thr)
2g.178614634T>ACA349607599TTN,TTN-AS1c.41176A>T (p.Lys13726Ter)
c.22261A>T (p.Lys7421Ter)
c.22060A>T (p.Lys7354Ter)
c.21685A>T (p.Lys7229Ter)
c.48880A>T (p.Lys16294Ter)
c.43957A>T (p.Lys14653Ter)
n.1382T>A
c.47977A>T (p.Lys15993Ter)
c.21871A>T (p.Lys7291Ter)
c.21730A>T (p.Lys7244Ter)
c.47773A>T (p.Lys15925Ter)
c.43171A>T (p.Lys14391Ter)
c.43168A>T (p.Lys14390Ter)
c.40210A>T (p.Lys13404Ter)
c.21826A>T (p.Lys7276Ter)
c.43321A>T (p.Lys14441Ter)
c.43318A>T (p.Lys14440Ter)
c.42751A>T (p.Lys14251Ter)
c.40093A>T (p.Lys13365Ter)
c.40012A>T (p.Lys13338Ter)
c.21775A>T (p.Lys7259Ter)
c.11629A>T (p.Lys3877Ter)
2g.178614634T>CCA349607601TTN,TTN-AS1c.41176A>G (p.Lys13726Glu)
c.22261A>G (p.Lys7421Glu)
c.22060A>G (p.Lys7354Glu)
c.21685A>G (p.Lys7229Glu)
c.48880A>G (p.Lys16294Glu)
c.43957A>G (p.Lys14653Glu)
n.1382T>C
c.47977A>G (p.Lys15993Glu)
c.21871A>G (p.Lys7291Glu)
c.21730A>G (p.Lys7244Glu)
c.47773A>G (p.Lys15925Glu)
c.43171A>G (p.Lys14391Glu)
c.43168A>G (p.Lys14390Glu)
c.40210A>G (p.Lys13404Glu)
c.21826A>G (p.Lys7276Glu)
c.43321A>G (p.Lys14441Glu)
c.43318A>G (p.Lys14440Glu)
c.42751A>G (p.Lys14251Glu)
c.40093A>G (p.Lys13365Glu)
c.40012A>G (p.Lys13338Glu)
c.21775A>G (p.Lys7259Glu)
c.11629A>G (p.Lys3877Glu)
2g.178614634T>GCA349607602TTN,TTN-AS1c.41176A>C (p.Lys13726Gln)
c.22261A>C (p.Lys7421Gln)
c.22060A>C (p.Lys7354Gln)
c.21685A>C (p.Lys7229Gln)
c.48880A>C (p.Lys16294Gln)
c.43957A>C (p.Lys14653Gln)
n.1382T>G
c.47977A>C (p.Lys15993Gln)
c.21871A>C (p.Lys7291Gln)
c.21730A>C (p.Lys7244Gln)
c.47773A>C (p.Lys15925Gln)
c.43171A>C (p.Lys14391Gln)
c.43168A>C (p.Lys14390Gln)
c.40210A>C (p.Lys13404Gln)
c.21826A>C (p.Lys7276Gln)
c.43321A>C (p.Lys14441Gln)
c.43318A>C (p.Lys14440Gln)
c.42751A>C (p.Lys14251Gln)
c.40093A>C (p.Lys13365Gln)
c.40012A>C (p.Lys13338Gln)
c.21775A>C (p.Lys7259Gln)
c.11629A>C (p.Lys3877Gln)
2g.178614635T>ACA430273795TTN,TTN-AS1c.41175A>T (p.Thr13725=)
c.22260A>T (p.Thr7420=)
c.22059A>T (p.Thr7353=)
c.21684A>T (p.Thr7228=)
c.48879A>T (p.Thr16293=)
c.43956A>T (p.Thr14652=)
n.1383T>A
c.47976A>T (p.Thr15992=)
c.21870A>T (p.Thr7290=)
c.21729A>T (p.Thr7243=)
c.47772A>T (p.Thr15924=)
c.43170A>T (p.Thr14390=)
c.43167A>T (p.Thr14389=)
c.40209A>T (p.Thr13403=)
c.21825A>T (p.Thr7275=)
c.43320A>T (p.Thr14440=)
c.43317A>T (p.Thr14439=)
c.42750A>T (p.Thr14250=)
c.40092A>T (p.Thr13364=)
c.40011A>T (p.Thr13337=)
c.21774A>T (p.Thr7258=)
c.11628A>T (p.Thr3876=)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178614635T>CCA430273796TTN,TTN-AS1c.41175A>G (p.Thr13725=)
c.22260A>G (p.Thr7420=)
c.22059A>G (p.Thr7353=)
c.21684A>G (p.Thr7228=)
c.48879A>G (p.Thr16293=)
c.43956A>G (p.Thr14652=)
n.1383T>C
c.47976A>G (p.Thr15992=)
c.21870A>G (p.Thr7290=)
c.21729A>G (p.Thr7243=)
c.47772A>G (p.Thr15924=)
c.43170A>G (p.Thr14390=)
c.43167A>G (p.Thr14389=)
c.40209A>G (p.Thr13403=)
c.21825A>G (p.Thr7275=)
c.43320A>G (p.Thr14440=)
c.43317A>G (p.Thr14439=)
c.42750A>G (p.Thr14250=)
c.40092A>G (p.Thr13364=)
c.40011A>G (p.Thr13337=)
c.21774A>G (p.Thr7258=)
c.11628A>G (p.Thr3876=)
2g.178614635T>GCA430273798TTN,TTN-AS1c.41175A>C (p.Thr13725=)
c.22260A>C (p.Thr7420=)
c.22059A>C (p.Thr7353=)
c.21684A>C (p.Thr7228=)
c.48879A>C (p.Thr16293=)
c.43956A>C (p.Thr14652=)
n.1383T>G
c.47976A>C (p.Thr15992=)
c.21870A>C (p.Thr7290=)
c.21729A>C (p.Thr7243=)
c.47772A>C (p.Thr15924=)
c.43170A>C (p.Thr14390=)
c.43167A>C (p.Thr14389=)
c.40209A>C (p.Thr13403=)
c.21825A>C (p.Thr7275=)
c.43320A>C (p.Thr14440=)
c.43317A>C (p.Thr14439=)
c.42750A>C (p.Thr14250=)
c.40092A>C (p.Thr13364=)
c.40011A>C (p.Thr13337=)
c.21774A>C (p.Thr7258=)
c.11628A>C (p.Thr3876=)
2g.178614635T=CA1310549451TTN,TTN-AS1c.41175A= (p.Thr13725=)
c.22260A= (p.Thr7420=)
c.22059A= (p.Thr7353=)
c.21684A= (p.Thr7228=)
c.48879A= (p.Thr16293=)
c.43956A= (p.Thr14652=)
n.1383T=
c.47976A= (p.Thr15992=)
c.21870A= (p.Thr7290=)
c.21729A= (p.Thr7243=)
c.47772A= (p.Thr15924=)
c.43170A= (p.Thr14390=)
c.43167A= (p.Thr14389=)
c.40209A= (p.Thr13403=)
c.21825A= (p.Thr7275=)
c.43320A= (p.Thr14440=)
c.43317A= (p.Thr14439=)
c.42750A= (p.Thr14250=)
c.40092A= (p.Thr13364=)
c.40011A= (p.Thr13337=)
c.21774A= (p.Thr7258=)
c.11628A= (p.Thr3876=)
2g.178614636G>ACA349607606TTN,TTN-AS1c.41174C>T (p.Thr13725Ile)
c.22259C>T (p.Thr7420Ile)
c.22058C>T (p.Thr7353Ile)
c.21683C>T (p.Thr7228Ile)
c.48878C>T (p.Thr16293Ile)
c.43955C>T (p.Thr14652Ile)
n.1384G>A
c.47975C>T (p.Thr15992Ile)
c.21869C>T (p.Thr7290Ile)
c.21728C>T (p.Thr7243Ile)
c.47771C>T (p.Thr15924Ile)
c.43169C>T (p.Thr14390Ile)
c.43166C>T (p.Thr14389Ile)
c.40208C>T (p.Thr13403Ile)
c.21824C>T (p.Thr7275Ile)
c.43319C>T (p.Thr14440Ile)
c.43316C>T (p.Thr14439Ile)
c.42749C>T (p.Thr14250Ile)
c.40091C>T (p.Thr13364Ile)
c.40010C>T (p.Thr13337Ile)
c.21773C>T (p.Thr7258Ile)
c.11627C>T (p.Thr3876Ile)
2g.178614636G>CCA349607607TTN,TTN-AS1c.41174C>G (p.Thr13725Arg)
c.22259C>G (p.Thr7420Arg)
c.22058C>G (p.Thr7353Arg)
c.21683C>G (p.Thr7228Arg)
c.48878C>G (p.Thr16293Arg)
c.43955C>G (p.Thr14652Arg)
n.1384G>C
c.47975C>G (p.Thr15992Arg)
c.21869C>G (p.Thr7290Arg)
c.21728C>G (p.Thr7243Arg)
c.47771C>G (p.Thr15924Arg)
c.43169C>G (p.Thr14390Arg)
c.43166C>G (p.Thr14389Arg)
c.40208C>G (p.Thr13403Arg)
c.21824C>G (p.Thr7275Arg)
c.43319C>G (p.Thr14440Arg)
c.43316C>G (p.Thr14439Arg)
c.42749C>G (p.Thr14250Arg)
c.40091C>G (p.Thr13364Arg)
c.40010C>G (p.Thr13337Arg)
c.21773C>G (p.Thr7258Arg)
c.11627C>G (p.Thr3876Arg)
2g.178614636G>TCA349607609TTN,TTN-AS1c.41174C>A (p.Thr13725Lys)
c.22259C>A (p.Thr7420Lys)
c.22058C>A (p.Thr7353Lys)
c.21683C>A (p.Thr7228Lys)
c.48878C>A (p.Thr16293Lys)
c.43955C>A (p.Thr14652Lys)
n.1384G>T
c.47975C>A (p.Thr15992Lys)
c.21869C>A (p.Thr7290Lys)
c.21728C>A (p.Thr7243Lys)
c.47771C>A (p.Thr15924Lys)
c.43169C>A (p.Thr14390Lys)
c.43166C>A (p.Thr14389Lys)
c.40208C>A (p.Thr13403Lys)
c.21824C>A (p.Thr7275Lys)
c.43319C>A (p.Thr14440Lys)
c.43316C>A (p.Thr14439Lys)
c.42749C>A (p.Thr14250Lys)
c.40091C>A (p.Thr13364Lys)
c.40010C>A (p.Thr13337Lys)
c.21773C>A (p.Thr7258Lys)
c.11627C>A (p.Thr3876Lys)
gnomAD v4
2g.178614636_178614637insCAGTCA2586970839TTN,TTN-AS1c.41173_41174insACTG (p.Thr13725AsnfsTer5)
c.22258_22259insACTG (p.Thr7420AsnfsTer5)
c.22057_22058insACTG (p.Thr7353AsnfsTer5)
c.21682_21683insACTG (p.Thr7228AsnfsTer5)
c.48877_48878insACTG (p.Thr16293AsnfsTer5)
c.43954_43955insACTG (p.Thr14652AsnfsTer5)
n.1384_1385insCAGT
c.47974_47975insACTG (p.Thr15992AsnfsTer5)
c.21868_21869insACTG (p.Thr7290AsnfsTer5)
c.21727_21728insACTG (p.Thr7243AsnfsTer5)
c.47770_47771insACTG (p.Thr15924AsnfsTer5)
c.43168_43169insACTG (p.Thr14390AsnfsTer5)
c.43165_43166insACTG (p.Thr14389AsnfsTer5)
c.40207_40208insACTG (p.Thr13403AsnfsTer5)
c.21823_21824insACTG (p.Thr7275AsnfsTer5)
c.43318_43319insACTG (p.Thr14440AsnfsTer5)
c.43315_43316insACTG (p.Thr14439AsnfsTer5)
c.42748_42749insACTG (p.Thr14250AsnfsTer5)
c.40090_40091insACTG (p.Thr13364AsnfsTer5)
c.40009_40010insACTG (p.Thr13337AsnfsTer5)
c.21772_21773insACTG (p.Thr7258AsnfsTer5)
c.11626_11627insACTG (p.Thr3876AsnfsTer5)
2g.178614637T>ACA349607615TTN,TTN-AS1c.41173A>T (p.Thr13725Ser)
c.22258A>T (p.Thr7420Ser)
c.22057A>T (p.Thr7353Ser)
c.21682A>T (p.Thr7228Ser)
c.48877A>T (p.Thr16293Ser)
c.43954A>T (p.Thr14652Ser)
n.1385T>A
c.47974A>T (p.Thr15992Ser)
c.21868A>T (p.Thr7290Ser)
c.21727A>T (p.Thr7243Ser)
c.47770A>T (p.Thr15924Ser)
c.43168A>T (p.Thr14390Ser)
c.43165A>T (p.Thr14389Ser)
c.40207A>T (p.Thr13403Ser)
c.21823A>T (p.Thr7275Ser)
c.43318A>T (p.Thr14440Ser)
c.43315A>T (p.Thr14439Ser)
c.42748A>T (p.Thr14250Ser)
c.40090A>T (p.Thr13364Ser)
c.40009A>T (p.Thr13337Ser)
c.21772A>T (p.Thr7258Ser)
c.11626A>T (p.Thr3876Ser)
2g.178614637T>CCA349607613TTN,TTN-AS1c.41173A>G (p.Thr13725Ala)
c.22258A>G (p.Thr7420Ala)
c.22057A>G (p.Thr7353Ala)
c.21682A>G (p.Thr7228Ala)
c.48877A>G (p.Thr16293Ala)
c.43954A>G (p.Thr14652Ala)
n.1385T>C
c.47974A>G (p.Thr15992Ala)
c.21868A>G (p.Thr7290Ala)
c.21727A>G (p.Thr7243Ala)
c.47770A>G (p.Thr15924Ala)
c.43168A>G (p.Thr14390Ala)
c.43165A>G (p.Thr14389Ala)
c.40207A>G (p.Thr13403Ala)
c.21823A>G (p.Thr7275Ala)
c.43318A>G (p.Thr14440Ala)
c.43315A>G (p.Thr14439Ala)
c.42748A>G (p.Thr14250Ala)
c.40090A>G (p.Thr13364Ala)
c.40009A>G (p.Thr13337Ala)
c.21772A>G (p.Thr7258Ala)
c.11626A>G (p.Thr3876Ala)
2g.178614637T>GCA349607612TTN,TTN-AS1c.41173A>C (p.Thr13725Pro)
c.22258A>C (p.Thr7420Pro)
c.22057A>C (p.Thr7353Pro)
c.21682A>C (p.Thr7228Pro)
c.48877A>C (p.Thr16293Pro)
c.43954A>C (p.Thr14652Pro)
n.1385T>G
c.47974A>C (p.Thr15992Pro)
c.21868A>C (p.Thr7290Pro)
c.21727A>C (p.Thr7243Pro)
c.47770A>C (p.Thr15924Pro)
c.43168A>C (p.Thr14390Pro)
c.43165A>C (p.Thr14389Pro)
c.40207A>C (p.Thr13403Pro)
c.21823A>C (p.Thr7275Pro)
c.43318A>C (p.Thr14440Pro)
c.43315A>C (p.Thr14439Pro)
c.42748A>C (p.Thr14250Pro)
c.40090A>C (p.Thr13364Pro)
c.40009A>C (p.Thr13337Pro)
c.21772A>C (p.Thr7258Pro)
c.11626A>C (p.Thr3876Pro)
2g.178614638C>ACA349607618TTN,TTN-AS1c.41172G>T (p.Trp13724Cys)
c.22257G>T (p.Trp7419Cys)
c.22056G>T (p.Trp7352Cys)
c.21681G>T (p.Trp7227Cys)
c.48876G>T (p.Trp16292Cys)
c.43953G>T (p.Trp14651Cys)
n.1386C>A
c.47973G>T (p.Trp15991Cys)
c.21867G>T (p.Trp7289Cys)
c.21726G>T (p.Trp7242Cys)
c.47769G>T (p.Trp15923Cys)
c.43167G>T (p.Trp14389Cys)
c.43164G>T (p.Trp14388Cys)
c.40206G>T (p.Trp13402Cys)
c.21822G>T (p.Trp7274Cys)
c.43317G>T (p.Trp14439Cys)
c.43314G>T (p.Trp14438Cys)
c.42747G>T (p.Trp14249Cys)
c.40089G>T (p.Trp13363Cys)
c.40008G>T (p.Trp13336Cys)
c.21771G>T (p.Trp7257Cys)
c.11625G>T (p.Trp3875Cys)
2g.178614638C>GCA349607619TTN,TTN-AS1c.41172G>C (p.Trp13724Cys)
c.22257G>C (p.Trp7419Cys)
c.22056G>C (p.Trp7352Cys)
c.21681G>C (p.Trp7227Cys)
c.48876G>C (p.Trp16292Cys)
c.43953G>C (p.Trp14651Cys)
n.1386C>G
c.47973G>C (p.Trp15991Cys)
c.21867G>C (p.Trp7289Cys)
c.21726G>C (p.Trp7242Cys)
c.47769G>C (p.Trp15923Cys)
c.43167G>C (p.Trp14389Cys)
c.43164G>C (p.Trp14388Cys)
c.40206G>C (p.Trp13402Cys)
c.21822G>C (p.Trp7274Cys)
c.43317G>C (p.Trp14439Cys)
c.43314G>C (p.Trp14438Cys)
c.42747G>C (p.Trp14249Cys)
c.40089G>C (p.Trp13363Cys)
c.40008G>C (p.Trp13336Cys)
c.21771G>C (p.Trp7257Cys)
c.11625G>C (p.Trp3875Cys)
2g.178614638C>TCA349607621TTN,TTN-AS1c.41172G>A (p.Trp13724Ter)
c.22257G>A (p.Trp7419Ter)
c.22056G>A (p.Trp7352Ter)
c.21681G>A (p.Trp7227Ter)
c.48876G>A (p.Trp16292Ter)
c.43953G>A (p.Trp14651Ter)
n.1386C>T
c.47973G>A (p.Trp15991Ter)
c.21867G>A (p.Trp7289Ter)
c.21726G>A (p.Trp7242Ter)
c.47769G>A (p.Trp15923Ter)
c.43167G>A (p.Trp14389Ter)
c.43164G>A (p.Trp14388Ter)
c.40206G>A (p.Trp13402Ter)
c.21822G>A (p.Trp7274Ter)
c.43317G>A (p.Trp14439Ter)
c.43314G>A (p.Trp14438Ter)
c.42747G>A (p.Trp14249Ter)
c.40089G>A (p.Trp13363Ter)
c.40008G>A (p.Trp13336Ter)
c.21771G>A (p.Trp7257Ter)
c.11625G>A (p.Trp3875Ter)
2g.178614639C>ACA349607623TTN,TTN-AS1c.41171G>T (p.Trp13724Leu)
c.22256G>T (p.Trp7419Leu)
c.22055G>T (p.Trp7352Leu)
c.21680G>T (p.Trp7227Leu)
c.48875G>T (p.Trp16292Leu)
c.43952G>T (p.Trp14651Leu)
n.1387C>A
c.47972G>T (p.Trp15991Leu)
c.21866G>T (p.Trp7289Leu)
c.21725G>T (p.Trp7242Leu)
c.47768G>T (p.Trp15923Leu)
c.43166G>T (p.Trp14389Leu)
c.43163G>T (p.Trp14388Leu)
c.40205G>T (p.Trp13402Leu)
c.21821G>T (p.Trp7274Leu)
c.43316G>T (p.Trp14439Leu)
c.43313G>T (p.Trp14438Leu)
c.42746G>T (p.Trp14249Leu)
c.40088G>T (p.Trp13363Leu)
c.40007G>T (p.Trp13336Leu)
c.21770G>T (p.Trp7257Leu)
c.11624G>T (p.Trp3875Leu)
2g.178614639C>GCA349607625TTN,TTN-AS1c.41171G>C (p.Trp13724Ser)
c.22256G>C (p.Trp7419Ser)
c.22055G>C (p.Trp7352Ser)
c.21680G>C (p.Trp7227Ser)
c.48875G>C (p.Trp16292Ser)
c.43952G>C (p.Trp14651Ser)
n.1387C>G
c.47972G>C (p.Trp15991Ser)
c.21866G>C (p.Trp7289Ser)
c.21725G>C (p.Trp7242Ser)
c.47768G>C (p.Trp15923Ser)
c.43166G>C (p.Trp14389Ser)
c.43163G>C (p.Trp14388Ser)
c.40205G>C (p.Trp13402Ser)
c.21821G>C (p.Trp7274Ser)
c.43316G>C (p.Trp14439Ser)
c.43313G>C (p.Trp14438Ser)
c.42746G>C (p.Trp14249Ser)
c.40088G>C (p.Trp13363Ser)
c.40007G>C (p.Trp13336Ser)
c.21770G>C (p.Trp7257Ser)
c.11624G>C (p.Trp3875Ser)
2g.178614639C>TCA349607627TTN,TTN-AS1c.41171G>A (p.Trp13724Ter)
c.22256G>A (p.Trp7419Ter)
c.22055G>A (p.Trp7352Ter)
c.21680G>A (p.Trp7227Ter)
c.48875G>A (p.Trp16292Ter)
c.43952G>A (p.Trp14651Ter)
n.1387C>T
c.47972G>A (p.Trp15991Ter)
c.21866G>A (p.Trp7289Ter)
c.21725G>A (p.Trp7242Ter)
c.47768G>A (p.Trp15923Ter)
c.43166G>A (p.Trp14389Ter)
c.43163G>A (p.Trp14388Ter)
c.40205G>A (p.Trp13402Ter)
c.21821G>A (p.Trp7274Ter)
c.43316G>A (p.Trp14439Ter)
c.43313G>A (p.Trp14438Ter)
c.42746G>A (p.Trp14249Ter)
c.40088G>A (p.Trp13363Ter)
c.40007G>A (p.Trp13336Ter)
c.21770G>A (p.Trp7257Ter)
c.11624G>A (p.Trp3875Ter)
gnomAD v4
2g.178614640A>CCA349607630TTN,TTN-AS1c.41170T>G (p.Trp13724Gly)
c.22255T>G (p.Trp7419Gly)
c.22054T>G (p.Trp7352Gly)
c.21679T>G (p.Trp7227Gly)
c.48874T>G (p.Trp16292Gly)
c.43951T>G (p.Trp14651Gly)
n.1388A>C
c.47971T>G (p.Trp15991Gly)
c.21865T>G (p.Trp7289Gly)
c.21724T>G (p.Trp7242Gly)
c.47767T>G (p.Trp15923Gly)
c.43165T>G (p.Trp14389Gly)
c.43162T>G (p.Trp14388Gly)
c.40204T>G (p.Trp13402Gly)
c.21820T>G (p.Trp7274Gly)
c.43315T>G (p.Trp14439Gly)
c.43312T>G (p.Trp14438Gly)
c.42745T>G (p.Trp14249Gly)
c.40087T>G (p.Trp13363Gly)
c.40006T>G (p.Trp13336Gly)
c.21769T>G (p.Trp7257Gly)
c.11623T>G (p.Trp3875Gly)
2g.178614640A>GCA349607631TTN,TTN-AS1c.41170T>C (p.Trp13724Arg)
c.22255T>C (p.Trp7419Arg)
c.22054T>C (p.Trp7352Arg)
c.21679T>C (p.Trp7227Arg)
c.48874T>C (p.Trp16292Arg)
c.43951T>C (p.Trp14651Arg)
n.1388A>G
c.47971T>C (p.Trp15991Arg)
c.21865T>C (p.Trp7289Arg)
c.21724T>C (p.Trp7242Arg)
c.47767T>C (p.Trp15923Arg)
c.43165T>C (p.Trp14389Arg)
c.43162T>C (p.Trp14388Arg)
c.40204T>C (p.Trp13402Arg)
c.21820T>C (p.Trp7274Arg)
c.43315T>C (p.Trp14439Arg)
c.43312T>C (p.Trp14438Arg)
c.42745T>C (p.Trp14249Arg)
c.40087T>C (p.Trp13363Arg)
c.40006T>C (p.Trp13336Arg)
c.21769T>C (p.Trp7257Arg)
c.11623T>C (p.Trp3875Arg)
2g.178614640A>TCA349607634TTN,TTN-AS1c.41170T>A (p.Trp13724Arg)
c.22255T>A (p.Trp7419Arg)
c.22054T>A (p.Trp7352Arg)
c.21679T>A (p.Trp7227Arg)
c.48874T>A (p.Trp16292Arg)
c.43951T>A (p.Trp14651Arg)
n.1388A>T
c.47971T>A (p.Trp15991Arg)
c.21865T>A (p.Trp7289Arg)
c.21724T>A (p.Trp7242Arg)
c.47767T>A (p.Trp15923Arg)
c.43165T>A (p.Trp14389Arg)
c.43162T>A (p.Trp14388Arg)
c.40204T>A (p.Trp13402Arg)
c.21820T>A (p.Trp7274Arg)
c.43315T>A (p.Trp14439Arg)
c.43312T>A (p.Trp14438Arg)
c.42745T>A (p.Trp14249Arg)
c.40087T>A (p.Trp13363Arg)
c.40006T>A (p.Trp13336Arg)
c.21769T>A (p.Trp7257Arg)
c.11623T>A (p.Trp3875Arg)
2g.178614641A>CCA430273830TTN,TTN-AS1c.41169T>G (p.Thr13723=)
c.22254T>G (p.Thr7418=)
c.22053T>G (p.Thr7351=)
c.21678T>G (p.Thr7226=)
c.48873T>G (p.Thr16291=)
c.43950T>G (p.Thr14650=)
n.1389A>C
c.47970T>G (p.Thr15990=)
c.21864T>G (p.Thr7288=)
c.21723T>G (p.Thr7241=)
c.47766T>G (p.Thr15922=)
c.43164T>G (p.Thr14388=)
c.43161T>G (p.Thr14387=)
c.40203T>G (p.Thr13401=)
c.21819T>G (p.Thr7273=)
c.43314T>G (p.Thr14438=)
c.43311T>G (p.Thr14437=)
c.42744T>G (p.Thr14248=)
c.40086T>G (p.Thr13362=)
c.40005T>G (p.Thr13335=)
c.21768T>G (p.Thr7256=)
c.11622T>G (p.Thr3874=)
2g.178614641A>GCA430273831TTN,TTN-AS1c.41169T>C (p.Thr13723=)
c.22254T>C (p.Thr7418=)
c.22053T>C (p.Thr7351=)
c.21678T>C (p.Thr7226=)
c.48873T>C (p.Thr16291=)
c.43950T>C (p.Thr14650=)
n.1389A>G
c.47970T>C (p.Thr15990=)
c.21864T>C (p.Thr7288=)
c.21723T>C (p.Thr7241=)
c.47766T>C (p.Thr15922=)
c.43164T>C (p.Thr14388=)
c.43161T>C (p.Thr14387=)
c.40203T>C (p.Thr13401=)
c.21819T>C (p.Thr7273=)
c.43314T>C (p.Thr14438=)
c.43311T>C (p.Thr14437=)
c.42744T>C (p.Thr14248=)
c.40086T>C (p.Thr13362=)
c.40005T>C (p.Thr13335=)
c.21768T>C (p.Thr7256=)
c.11622T>C (p.Thr3874=)
2g.178614641A>TCA430273835TTN,TTN-AS1c.41169T>A (p.Thr13723=)
c.22254T>A (p.Thr7418=)
c.22053T>A (p.Thr7351=)
c.21678T>A (p.Thr7226=)
c.48873T>A (p.Thr16291=)
c.43950T>A (p.Thr14650=)
n.1389A>T
c.47970T>A (p.Thr15990=)
c.21864T>A (p.Thr7288=)
c.21723T>A (p.Thr7241=)
c.47766T>A (p.Thr15922=)
c.43164T>A (p.Thr14388=)
c.43161T>A (p.Thr14387=)
c.40203T>A (p.Thr13401=)
c.21819T>A (p.Thr7273=)
c.43314T>A (p.Thr14438=)
c.43311T>A (p.Thr14437=)
c.42744T>A (p.Thr14248=)
c.40086T>A (p.Thr13362=)
c.40005T>A (p.Thr13335=)
c.21768T>A (p.Thr7256=)
c.11622T>A (p.Thr3874=)
2g.178614642G>ACA349607636TTN,TTN-AS1c.41168C>T (p.Thr13723Ile)
c.22253C>T (p.Thr7418Ile)
c.22052C>T (p.Thr7351Ile)
c.21677C>T (p.Thr7226Ile)
c.48872C>T (p.Thr16291Ile)
c.43949C>T (p.Thr14650Ile)
n.1390G>A
c.47969C>T (p.Thr15990Ile)
c.21863C>T (p.Thr7288Ile)
c.21722C>T (p.Thr7241Ile)
c.47765C>T (p.Thr15922Ile)
c.43163C>T (p.Thr14388Ile)
c.43160C>T (p.Thr14387Ile)
c.40202C>T (p.Thr13401Ile)
c.21818C>T (p.Thr7273Ile)
c.43313C>T (p.Thr14438Ile)
c.43310C>T (p.Thr14437Ile)
c.42743C>T (p.Thr14248Ile)
c.40085C>T (p.Thr13362Ile)
c.40004C>T (p.Thr13335Ile)
c.21767C>T (p.Thr7256Ile)
c.11621C>T (p.Thr3874Ile)
ClinVar
2g.178614642G>CCA349607638TTN,TTN-AS1c.41168C>G (p.Thr13723Ser)
c.22253C>G (p.Thr7418Ser)
c.22052C>G (p.Thr7351Ser)
c.21677C>G (p.Thr7226Ser)
c.48872C>G (p.Thr16291Ser)
c.43949C>G (p.Thr14650Ser)
n.1390G>C
c.47969C>G (p.Thr15990Ser)
c.21863C>G (p.Thr7288Ser)
c.21722C>G (p.Thr7241Ser)
c.47765C>G (p.Thr15922Ser)
c.43163C>G (p.Thr14388Ser)
c.43160C>G (p.Thr14387Ser)
c.40202C>G (p.Thr13401Ser)
c.21818C>G (p.Thr7273Ser)
c.43313C>G (p.Thr14438Ser)
c.43310C>G (p.Thr14437Ser)
c.42743C>G (p.Thr14248Ser)
c.40085C>G (p.Thr13362Ser)
c.40004C>G (p.Thr13335Ser)
c.21767C>G (p.Thr7256Ser)
c.11621C>G (p.Thr3874Ser)
2g.178614642G>TCA349607640TTN,TTN-AS1c.41168C>A (p.Thr13723Asn)
c.22253C>A (p.Thr7418Asn)
c.22052C>A (p.Thr7351Asn)
c.21677C>A (p.Thr7226Asn)
c.48872C>A (p.Thr16291Asn)
c.43949C>A (p.Thr14650Asn)
n.1390G>T
c.47969C>A (p.Thr15990Asn)
c.21863C>A (p.Thr7288Asn)
c.21722C>A (p.Thr7241Asn)
c.47765C>A (p.Thr15922Asn)
c.43163C>A (p.Thr14388Asn)
c.43160C>A (p.Thr14387Asn)
c.40202C>A (p.Thr13401Asn)
c.21818C>A (p.Thr7273Asn)
c.43313C>A (p.Thr14438Asn)
c.43310C>A (p.Thr14437Asn)
c.42743C>A (p.Thr14248Asn)
c.40085C>A (p.Thr13362Asn)
c.40004C>A (p.Thr13335Asn)
c.21767C>A (p.Thr7256Asn)
c.11621C>A (p.Thr3874Asn)
2g.178614643T>ACA349607644TTN,TTN-AS1c.41167A>T (p.Thr13723Ser)
c.22252A>T (p.Thr7418Ser)
c.22051A>T (p.Thr7351Ser)
c.21676A>T (p.Thr7226Ser)
c.48871A>T (p.Thr16291Ser)
c.43948A>T (p.Thr14650Ser)
n.1391T>A
c.47968A>T (p.Thr15990Ser)
c.21862A>T (p.Thr7288Ser)
c.21721A>T (p.Thr7241Ser)
c.47764A>T (p.Thr15922Ser)
c.43162A>T (p.Thr14388Ser)
c.43159A>T (p.Thr14387Ser)
c.40201A>T (p.Thr13401Ser)
c.21817A>T (p.Thr7273Ser)
c.43312A>T (p.Thr14438Ser)
c.43309A>T (p.Thr14437Ser)
c.42742A>T (p.Thr14248Ser)
c.40084A>T (p.Thr13362Ser)
c.40003A>T (p.Thr13335Ser)
c.21766A>T (p.Thr7256Ser)
c.11620A>T (p.Thr3874Ser)
2g.178614643T>CCA349607642TTN,TTN-AS1c.41167A>G (p.Thr13723Ala)
c.22252A>G (p.Thr7418Ala)
c.22051A>G (p.Thr7351Ala)
c.21676A>G (p.Thr7226Ala)
c.48871A>G (p.Thr16291Ala)
c.43948A>G (p.Thr14650Ala)
n.1391T>C
c.47968A>G (p.Thr15990Ala)
c.21862A>G (p.Thr7288Ala)
c.21721A>G (p.Thr7241Ala)
c.47764A>G (p.Thr15922Ala)
c.43162A>G (p.Thr14388Ala)
c.43159A>G (p.Thr14387Ala)
c.40201A>G (p.Thr13401Ala)
c.21817A>G (p.Thr7273Ala)
c.43312A>G (p.Thr14438Ala)
c.43309A>G (p.Thr14437Ala)
c.42742A>G (p.Thr14248Ala)
c.40084A>G (p.Thr13362Ala)
c.40003A>G (p.Thr13335Ala)
c.21766A>G (p.Thr7256Ala)
c.11620A>G (p.Thr3874Ala)
2g.178614643T>GCA349607641TTN,TTN-AS1c.41167A>C (p.Thr13723Pro)
c.22252A>C (p.Thr7418Pro)
c.22051A>C (p.Thr7351Pro)
c.21676A>C (p.Thr7226Pro)
c.48871A>C (p.Thr16291Pro)
c.43948A>C (p.Thr14650Pro)
n.1391T>G
c.47968A>C (p.Thr15990Pro)
c.21862A>C (p.Thr7288Pro)
c.21721A>C (p.Thr7241Pro)
c.47764A>C (p.Thr15922Pro)
c.43162A>C (p.Thr14388Pro)
c.43159A>C (p.Thr14387Pro)
c.40201A>C (p.Thr13401Pro)
c.21817A>C (p.Thr7273Pro)
c.43312A>C (p.Thr14438Pro)
c.43309A>C (p.Thr14437Pro)
c.42742A>C (p.Thr14248Pro)
c.40084A>C (p.Thr13362Pro)
c.40003A>C (p.Thr13335Pro)
c.21766A>C (p.Thr7256Pro)
c.11620A>C (p.Thr3874Pro)
2g.178614644T>ACA430273844TTN,TTN-AS1c.41166A>T (p.Ile13722=)
c.22251A>T (p.Ile7417=)
c.22050A>T (p.Ile7350=)
c.21675A>T (p.Ile7225=)
c.48870A>T (p.Ile16290=)
c.43947A>T (p.Ile14649=)
n.1392T>A
c.47967A>T (p.Ile15989=)
c.21861A>T (p.Ile7287=)
c.21720A>T (p.Ile7240=)
c.47763A>T (p.Ile15921=)
c.43161A>T (p.Ile14387=)
c.43158A>T (p.Ile14386=)
c.40200A>T (p.Ile13400=)
c.21816A>T (p.Ile7272=)
c.43311A>T (p.Ile14437=)
c.43308A>T (p.Ile14436=)
c.42741A>T (p.Ile14247=)
c.40083A>T (p.Ile13361=)
c.40002A>T (p.Ile13334=)
c.21765A>T (p.Ile7255=)
c.11619A>T (p.Ile3873=)
2g.178614644T>CCA349607646TTN,TTN-AS1c.41166A>G (p.Ile13722Met)
c.22251A>G (p.Ile7417Met)
c.22050A>G (p.Ile7350Met)
c.21675A>G (p.Ile7225Met)
c.48870A>G (p.Ile16290Met)
c.43947A>G (p.Ile14649Met)
n.1392T>C
c.47967A>G (p.Ile15989Met)
c.21861A>G (p.Ile7287Met)
c.21720A>G (p.Ile7240Met)
c.47763A>G (p.Ile15921Met)
c.43161A>G (p.Ile14387Met)
c.43158A>G (p.Ile14386Met)
c.40200A>G (p.Ile13400Met)
c.21816A>G (p.Ile7272Met)
c.43311A>G (p.Ile14437Met)
c.43308A>G (p.Ile14436Met)
c.42741A>G (p.Ile14247Met)
c.40083A>G (p.Ile13361Met)
c.40002A>G (p.Ile13334Met)
c.21765A>G (p.Ile7255Met)
c.11619A>G (p.Ile3873Met)
2g.178614644T>GCA430273854TTN,TTN-AS1c.41166A>C (p.Ile13722=)
c.22251A>C (p.Ile7417=)
c.22050A>C (p.Ile7350=)
c.21675A>C (p.Ile7225=)
c.48870A>C (p.Ile16290=)
c.43947A>C (p.Ile14649=)
n.1392T>G
c.47967A>C (p.Ile15989=)
c.21861A>C (p.Ile7287=)
c.21720A>C (p.Ile7240=)
c.47763A>C (p.Ile15921=)
c.43161A>C (p.Ile14387=)
c.43158A>C (p.Ile14386=)
c.40200A>C (p.Ile13400=)
c.21816A>C (p.Ile7272=)
c.43311A>C (p.Ile14437=)
c.43308A>C (p.Ile14436=)
c.42741A>C (p.Ile14247=)
c.40083A>C (p.Ile13361=)
c.40002A>C (p.Ile13334=)
c.21765A>C (p.Ile7255=)
c.11619A>C (p.Ile3873=)
2g.178614645A>CCA349607649TTN,TTN-AS1c.41165T>G (p.Ile13722Arg)
c.22250T>G (p.Ile7417Arg)
c.22049T>G (p.Ile7350Arg)
c.21674T>G (p.Ile7225Arg)
c.48869T>G (p.Ile16290Arg)
c.43946T>G (p.Ile14649Arg)
n.1393A>C
c.47966T>G (p.Ile15989Arg)
c.21860T>G (p.Ile7287Arg)
c.21719T>G (p.Ile7240Arg)
c.47762T>G (p.Ile15921Arg)
c.43160T>G (p.Ile14387Arg)
c.43157T>G (p.Ile14386Arg)
c.40199T>G (p.Ile13400Arg)
c.21815T>G (p.Ile7272Arg)
c.43310T>G (p.Ile14437Arg)
c.43307T>G (p.Ile14436Arg)
c.42740T>G (p.Ile14247Arg)
c.40082T>G (p.Ile13361Arg)
c.40001T>G (p.Ile13334Arg)
c.21764T>G (p.Ile7255Arg)
c.11618T>G (p.Ile3873Arg)
2g.178614645A>GCA349607650TTN,TTN-AS1c.41165T>C (p.Ile13722Thr)
c.22250T>C (p.Ile7417Thr)
c.22049T>C (p.Ile7350Thr)
c.21674T>C (p.Ile7225Thr)
c.48869T>C (p.Ile16290Thr)
c.43946T>C (p.Ile14649Thr)
n.1393A>G
c.47966T>C (p.Ile15989Thr)
c.21860T>C (p.Ile7287Thr)
c.21719T>C (p.Ile7240Thr)
c.47762T>C (p.Ile15921Thr)
c.43160T>C (p.Ile14387Thr)
c.43157T>C (p.Ile14386Thr)
c.40199T>C (p.Ile13400Thr)
c.21815T>C (p.Ile7272Thr)
c.43310T>C (p.Ile14437Thr)
c.43307T>C (p.Ile14436Thr)
c.42740T>C (p.Ile14247Thr)
c.40082T>C (p.Ile13361Thr)
c.40001T>C (p.Ile13334Thr)
c.21764T>C (p.Ile7255Thr)
c.11618T>C (p.Ile3873Thr)
COSMIC COSMIC COSMIC COSMIC
2g.178614645A>TCA349607652TTN,TTN-AS1c.41165T>A (p.Ile13722Lys)
c.22250T>A (p.Ile7417Lys)
c.22049T>A (p.Ile7350Lys)
c.21674T>A (p.Ile7225Lys)
c.48869T>A (p.Ile16290Lys)
c.43946T>A (p.Ile14649Lys)
n.1393A>T
c.47966T>A (p.Ile15989Lys)
c.21860T>A (p.Ile7287Lys)
c.21719T>A (p.Ile7240Lys)
c.47762T>A (p.Ile15921Lys)
c.43160T>A (p.Ile14387Lys)
c.43157T>A (p.Ile14386Lys)
c.40199T>A (p.Ile13400Lys)
c.21815T>A (p.Ile7272Lys)
c.43310T>A (p.Ile14437Lys)
c.43307T>A (p.Ile14436Lys)
c.42740T>A (p.Ile14247Lys)
c.40082T>A (p.Ile13361Lys)
c.40001T>A (p.Ile13334Lys)
c.21764T>A (p.Ile7255Lys)
c.11618T>A (p.Ile3873Lys)
2g.178614646T>ACA349607655TTN,TTN-AS1c.41164A>T (p.Ile13722Leu)
c.22249A>T (p.Ile7417Leu)
c.22048A>T (p.Ile7350Leu)
c.21673A>T (p.Ile7225Leu)
c.48868A>T (p.Ile16290Leu)
c.43945A>T (p.Ile14649Leu)
n.1394T>A
c.47965A>T (p.Ile15989Leu)
c.21859A>T (p.Ile7287Leu)
c.21718A>T (p.Ile7240Leu)
c.47761A>T (p.Ile15921Leu)
c.43159A>T (p.Ile14387Leu)
c.43156A>T (p.Ile14386Leu)
c.40198A>T (p.Ile13400Leu)
c.21814A>T (p.Ile7272Leu)
c.43309A>T (p.Ile14437Leu)
c.43306A>T (p.Ile14436Leu)
c.42739A>T (p.Ile14247Leu)
c.40081A>T (p.Ile13361Leu)
c.40000A>T (p.Ile13334Leu)
c.21763A>T (p.Ile7255Leu)
c.11617A>T (p.Ile3873Leu)
2g.178614646T>CCA1994730TTN,TTN-AS1c.41164A>G (p.Ile13722Val)
c.22249A>G (p.Ile7417Val)
c.22048A>G (p.Ile7350Val)
c.21673A>G (p.Ile7225Val)
c.48868A>G (p.Ile16290Val)
c.43945A>G (p.Ile14649Val)
n.1394T>C
c.47965A>G (p.Ile15989Val)
c.21859A>G (p.Ile7287Val)
c.21718A>G (p.Ile7240Val)
c.47761A>G (p.Ile15921Val)
c.43159A>G (p.Ile14387Val)
c.43156A>G (p.Ile14386Val)
c.40198A>G (p.Ile13400Val)
c.21814A>G (p.Ile7272Val)
c.43309A>G (p.Ile14437Val)
c.43306A>G (p.Ile14436Val)
c.42739A>G (p.Ile14247Val)
c.40081A>G (p.Ile13361Val)
c.40000A>G (p.Ile13334Val)
c.21763A>G (p.Ile7255Val)
c.11617A>G (p.Ile3873Val)
dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched