Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178530269G>ACA349405969TTN,TTN-AS1c.98642C>T (p.Pro32881Leu)
c.79727C>T (p.Pro26576Leu)
c.79526C>T (p.Pro26509Leu)
c.79151C>T (p.Pro26384Leu)
c.106346C>T (p.Pro35449Leu)
c.101423C>T (p.Pro33808Leu)
n.446+6633G>A
n.220-5463G>A
c.105443C>T (p.Pro35148Leu)
c.79337C>T (p.Pro26446Leu)
c.79196C>T (p.Pro26399Leu)
c.105239C>T (p.Pro35080Leu)
c.100637C>T (p.Pro33546Leu)
c.100634C>T (p.Pro33545Leu)
c.97676C>T (p.Pro32559Leu)
c.79292C>T (p.Pro26431Leu)
c.100787C>T (p.Pro33596Leu)
c.100784C>T (p.Pro33595Leu)
c.100217C>T (p.Pro33406Leu)
c.97559C>T (p.Pro32520Leu)
c.97478C>T (p.Pro32493Leu)
c.79241C>T (p.Pro26414Leu)
c.69095C>T (p.Pro23032Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.178530269G>CCA349405971TTN,TTN-AS1c.98642C>G (p.Pro32881Arg)
c.79727C>G (p.Pro26576Arg)
c.79526C>G (p.Pro26509Arg)
c.79151C>G (p.Pro26384Arg)
c.106346C>G (p.Pro35449Arg)
c.101423C>G (p.Pro33808Arg)
n.446+6633G>C
n.220-5463G>C
c.105443C>G (p.Pro35148Arg)
c.79337C>G (p.Pro26446Arg)
c.79196C>G (p.Pro26399Arg)
c.105239C>G (p.Pro35080Arg)
c.100637C>G (p.Pro33546Arg)
c.100634C>G (p.Pro33545Arg)
c.97676C>G (p.Pro32559Arg)
c.79292C>G (p.Pro26431Arg)
c.100787C>G (p.Pro33596Arg)
c.100784C>G (p.Pro33595Arg)
c.100217C>G (p.Pro33406Arg)
c.97559C>G (p.Pro32520Arg)
c.97478C>G (p.Pro32493Arg)
c.79241C>G (p.Pro26414Arg)
c.69095C>G (p.Pro23032Arg)
2g.178530269G=CA1310511695TTN,TTN-AS1c.98642C= (p.Pro32881=)
c.79727C= (p.Pro26576=)
c.79526C= (p.Pro26509=)
c.79151C= (p.Pro26384=)
c.106346C= (p.Pro35449=)
c.101423C= (p.Pro33808=)
n.446+6633G=
n.220-5463G=
c.105443C= (p.Pro35148=)
c.79337C= (p.Pro26446=)
c.79196C= (p.Pro26399=)
c.105239C= (p.Pro35080=)
c.100637C= (p.Pro33546=)
c.100634C= (p.Pro33545=)
c.97676C= (p.Pro32559=)
c.79292C= (p.Pro26431=)
c.100787C= (p.Pro33596=)
c.100784C= (p.Pro33595=)
c.100217C= (p.Pro33406=)
c.97559C= (p.Pro32520=)
c.97478C= (p.Pro32493=)
c.79241C= (p.Pro26414=)
c.69095C= (p.Pro23032=)
2g.178530269G>TCA349405974TTN,TTN-AS1c.98642C>A (p.Pro32881Gln)
c.79727C>A (p.Pro26576Gln)
c.79526C>A (p.Pro26509Gln)
c.79151C>A (p.Pro26384Gln)
c.106346C>A (p.Pro35449Gln)
c.101423C>A (p.Pro33808Gln)
n.446+6633G>T
n.220-5463G>T
c.105443C>A (p.Pro35148Gln)
c.79337C>A (p.Pro26446Gln)
c.79196C>A (p.Pro26399Gln)
c.105239C>A (p.Pro35080Gln)
c.100637C>A (p.Pro33546Gln)
c.100634C>A (p.Pro33545Gln)
c.97676C>A (p.Pro32559Gln)
c.79292C>A (p.Pro26431Gln)
c.100787C>A (p.Pro33596Gln)
c.100784C>A (p.Pro33595Gln)
c.100217C>A (p.Pro33406Gln)
c.97559C>A (p.Pro32520Gln)
c.97478C>A (p.Pro32493Gln)
c.79241C>A (p.Pro26414Gln)
c.69095C>A (p.Pro23032Gln)
 dbSNP gnomAD v4
2g.178530270G>ACA349405984TTN,TTN-AS1c.98641C>T (p.Pro32881Ser)
c.79726C>T (p.Pro26576Ser)
c.79525C>T (p.Pro26509Ser)
c.79150C>T (p.Pro26384Ser)
c.106345C>T (p.Pro35449Ser)
c.101422C>T (p.Pro33808Ser)
n.446+6634G>A
n.220-5462G>A
c.105442C>T (p.Pro35148Ser)
c.79336C>T (p.Pro26446Ser)
c.79195C>T (p.Pro26399Ser)
c.105238C>T (p.Pro35080Ser)
c.100636C>T (p.Pro33546Ser)
c.100633C>T (p.Pro33545Ser)
c.97675C>T (p.Pro32559Ser)
c.79291C>T (p.Pro26431Ser)
c.100786C>T (p.Pro33596Ser)
c.100783C>T (p.Pro33595Ser)
c.100216C>T (p.Pro33406Ser)
c.97558C>T (p.Pro32520Ser)
c.97477C>T (p.Pro32493Ser)
c.79240C>T (p.Pro26414Ser)
c.69094C>T (p.Pro23032Ser)
2g.178530270G>CCA349405985TTN,TTN-AS1c.98641C>G (p.Pro32881Ala)
c.79726C>G (p.Pro26576Ala)
c.79525C>G (p.Pro26509Ala)
c.79150C>G (p.Pro26384Ala)
c.106345C>G (p.Pro35449Ala)
c.101422C>G (p.Pro33808Ala)
n.446+6634G>C
n.220-5462G>C
c.105442C>G (p.Pro35148Ala)
c.79336C>G (p.Pro26446Ala)
c.79195C>G (p.Pro26399Ala)
c.105238C>G (p.Pro35080Ala)
c.100636C>G (p.Pro33546Ala)
c.100633C>G (p.Pro33545Ala)
c.97675C>G (p.Pro32559Ala)
c.79291C>G (p.Pro26431Ala)
c.100786C>G (p.Pro33596Ala)
c.100783C>G (p.Pro33595Ala)
c.100216C>G (p.Pro33406Ala)
c.97558C>G (p.Pro32520Ala)
c.97477C>G (p.Pro32493Ala)
c.79240C>G (p.Pro26414Ala)
c.69094C>G (p.Pro23032Ala)
2g.178530270G>TCA349405986TTN,TTN-AS1c.98641C>A (p.Pro32881Thr)
c.79726C>A (p.Pro26576Thr)
c.79525C>A (p.Pro26509Thr)
c.79150C>A (p.Pro26384Thr)
c.106345C>A (p.Pro35449Thr)
c.101422C>A (p.Pro33808Thr)
n.446+6634G>T
n.220-5462G>T
c.105442C>A (p.Pro35148Thr)
c.79336C>A (p.Pro26446Thr)
c.79195C>A (p.Pro26399Thr)
c.105238C>A (p.Pro35080Thr)
c.100636C>A (p.Pro33546Thr)
c.100633C>A (p.Pro33545Thr)
c.97675C>A (p.Pro32559Thr)
c.79291C>A (p.Pro26431Thr)
c.100786C>A (p.Pro33596Thr)
c.100783C>A (p.Pro33595Thr)
c.100216C>A (p.Pro33406Thr)
c.97558C>A (p.Pro32520Thr)
c.97477C>A (p.Pro32493Thr)
c.79240C>A (p.Pro26414Thr)
c.69094C>A (p.Pro23032Thr)
2g.178530271C>ACA430235047TTN,TTN-AS1c.98640G>T (p.Arg32880=)
c.79725G>T (p.Arg26575=)
c.79524G>T (p.Arg26508=)
c.79149G>T (p.Arg26383=)
c.106344G>T (p.Arg35448=)
c.101421G>T (p.Arg33807=)
n.446+6635C>A
n.220-5461C>A
c.105441G>T (p.Arg35147=)
c.79335G>T (p.Arg26445=)
c.79194G>T (p.Arg26398=)
c.105237G>T (p.Arg35079=)
c.100635G>T (p.Arg33545=)
c.100632G>T (p.Arg33544=)
c.97674G>T (p.Arg32558=)
c.79290G>T (p.Arg26430=)
c.100785G>T (p.Arg33595=)
c.100782G>T (p.Arg33594=)
c.100215G>T (p.Arg33405=)
c.97557G>T (p.Arg32519=)
c.97476G>T (p.Arg32492=)
c.79239G>T (p.Arg26413=)
c.69093G>T (p.Arg23031=)
2g.178530271C>GCA430235048TTN,TTN-AS1c.98640G>C (p.Arg32880=)
c.79725G>C (p.Arg26575=)
c.79524G>C (p.Arg26508=)
c.79149G>C (p.Arg26383=)
c.106344G>C (p.Arg35448=)
c.101421G>C (p.Arg33807=)
n.446+6635C>G
n.220-5461C>G
c.105441G>C (p.Arg35147=)
c.79335G>C (p.Arg26445=)
c.79194G>C (p.Arg26398=)
c.105237G>C (p.Arg35079=)
c.100635G>C (p.Arg33545=)
c.100632G>C (p.Arg33544=)
c.97674G>C (p.Arg32558=)
c.79290G>C (p.Arg26430=)
c.100785G>C (p.Arg33595=)
c.100782G>C (p.Arg33594=)
c.100215G>C (p.Arg33405=)
c.97557G>C (p.Arg32519=)
c.97476G>C (p.Arg32492=)
c.79239G>C (p.Arg26413=)
c.69093G>C (p.Arg23031=)
2g.178530271C>TCA430235049TTN,TTN-AS1c.98640G>A (p.Arg32880=)
c.79725G>A (p.Arg26575=)
c.79524G>A (p.Arg26508=)
c.79149G>A (p.Arg26383=)
c.106344G>A (p.Arg35448=)
c.101421G>A (p.Arg33807=)
n.446+6635C>T
n.220-5461C>T
c.105441G>A (p.Arg35147=)
c.79335G>A (p.Arg26445=)
c.79194G>A (p.Arg26398=)
c.105237G>A (p.Arg35079=)
c.100635G>A (p.Arg33545=)
c.100632G>A (p.Arg33544=)
c.97674G>A (p.Arg32558=)
c.79290G>A (p.Arg26430=)
c.100785G>A (p.Arg33595=)
c.100782G>A (p.Arg33594=)
c.100215G>A (p.Arg33405=)
c.97557G>A (p.Arg32519=)
c.97476G>A (p.Arg32492=)
c.79239G>A (p.Arg26413=)
c.69093G>A (p.Arg23031=)
 ClinVar COSMIC COSMIC COSMIC COSMIC
2g.178530272C>ACA349405987TTN,TTN-AS1c.98639G>T (p.Arg32880Leu)
c.79724G>T (p.Arg26575Leu)
c.79523G>T (p.Arg26508Leu)
c.79148G>T (p.Arg26383Leu)
c.106343G>T (p.Arg35448Leu)
c.101420G>T (p.Arg33807Leu)
n.446+6636C>A
n.220-5460C>A
c.105440G>T (p.Arg35147Leu)
c.79334G>T (p.Arg26445Leu)
c.79193G>T (p.Arg26398Leu)
c.105236G>T (p.Arg35079Leu)
c.100634G>T (p.Arg33545Leu)
c.100631G>T (p.Arg33544Leu)
c.97673G>T (p.Arg32558Leu)
c.79289G>T (p.Arg26430Leu)
c.100784G>T (p.Arg33595Leu)
c.100781G>T (p.Arg33594Leu)
c.100214G>T (p.Arg33405Leu)
c.97556G>T (p.Arg32519Leu)
c.97475G>T (p.Arg32492Leu)
c.79238G>T (p.Arg26413Leu)
c.69092G>T (p.Arg23031Leu)
2g.178530272C=CA1310511701TTN,TTN-AS1c.98639G= (p.Arg32880=)
c.79724G= (p.Arg26575=)
c.79523G= (p.Arg26508=)
c.79148G= (p.Arg26383=)
c.106343G= (p.Arg35448=)
c.101420G= (p.Arg33807=)
n.446+6636C=
n.220-5460C=
c.105440G= (p.Arg35147=)
c.79334G= (p.Arg26445=)
c.79193G= (p.Arg26398=)
c.105236G= (p.Arg35079=)
c.100634G= (p.Arg33545=)
c.100631G= (p.Arg33544=)
c.97673G= (p.Arg32558=)
c.79289G= (p.Arg26430=)
c.100784G= (p.Arg33595=)
c.100781G= (p.Arg33594=)
c.100214G= (p.Arg33405=)
c.97556G= (p.Arg32519=)
c.97475G= (p.Arg32492=)
c.79238G= (p.Arg26413=)
c.69092G= (p.Arg23031=)
2g.178530272C>GCA60953241TTN,TTN-AS1c.98639G>C (p.Arg32880Pro)
c.79724G>C (p.Arg26575Pro)
c.79523G>C (p.Arg26508Pro)
c.79148G>C (p.Arg26383Pro)
c.106343G>C (p.Arg35448Pro)
c.101420G>C (p.Arg33807Pro)
n.446+6636C>G
n.220-5460C>G
c.105440G>C (p.Arg35147Pro)
c.79334G>C (p.Arg26445Pro)
c.79193G>C (p.Arg26398Pro)
c.105236G>C (p.Arg35079Pro)
c.100634G>C (p.Arg33545Pro)
c.100631G>C (p.Arg33544Pro)
c.97673G>C (p.Arg32558Pro)
c.79289G>C (p.Arg26430Pro)
c.100784G>C (p.Arg33595Pro)
c.100781G>C (p.Arg33594Pro)
c.100214G>C (p.Arg33405Pro)
c.97556G>C (p.Arg32519Pro)
c.97475G>C (p.Arg32492Pro)
c.79238G>C (p.Arg26413Pro)
c.69092G>C (p.Arg23031Pro)
 dbSNP
2g.178530272C>TCA302375TTN,TTN-AS1c.98639G>A (p.Arg32880Gln)
c.79724G>A (p.Arg26575Gln)
c.79523G>A (p.Arg26508Gln)
c.79148G>A (p.Arg26383Gln)
c.106343G>A (p.Arg35448Gln)
c.101420G>A (p.Arg33807Gln)
n.446+6636C>T
n.220-5460C>T
c.105440G>A (p.Arg35147Gln)
c.79334G>A (p.Arg26445Gln)
c.79193G>A (p.Arg26398Gln)
c.105236G>A (p.Arg35079Gln)
c.100634G>A (p.Arg33545Gln)
c.100631G>A (p.Arg33544Gln)
c.97673G>A (p.Arg32558Gln)
c.79289G>A (p.Arg26430Gln)
c.100784G>A (p.Arg33595Gln)
c.100781G>A (p.Arg33594Gln)
c.100214G>A (p.Arg33405Gln)
c.97556G>A (p.Arg32519Gln)
c.97475G>A (p.Arg32492Gln)
c.79238G>A (p.Arg26413Gln)
c.69092G>A (p.Arg23031Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530273G>ACA1985127TTN,TTN-AS1c.98638C>T (p.Arg32880Trp)
c.79723C>T (p.Arg26575Trp)
c.79522C>T (p.Arg26508Trp)
c.79147C>T (p.Arg26383Trp)
c.106342C>T (p.Arg35448Trp)
c.101419C>T (p.Arg33807Trp)
n.446+6637G>A
n.220-5459G>A
c.105439C>T (p.Arg35147Trp)
c.79333C>T (p.Arg26445Trp)
c.79192C>T (p.Arg26398Trp)
c.105235C>T (p.Arg35079Trp)
c.100633C>T (p.Arg33545Trp)
c.100630C>T (p.Arg33544Trp)
c.97672C>T (p.Arg32558Trp)
c.79288C>T (p.Arg26430Trp)
c.100783C>T (p.Arg33595Trp)
c.100780C>T (p.Arg33594Trp)
c.100213C>T (p.Arg33405Trp)
c.97555C>T (p.Arg32519Trp)
c.97474C>T (p.Arg32492Trp)
c.79237C>T (p.Arg26413Trp)
c.69091C>T (p.Arg23031Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530273G>CCA349405990TTN,TTN-AS1c.98638C>G (p.Arg32880Gly)
c.79723C>G (p.Arg26575Gly)
c.79522C>G (p.Arg26508Gly)
c.79147C>G (p.Arg26383Gly)
c.106342C>G (p.Arg35448Gly)
c.101419C>G (p.Arg33807Gly)
n.446+6637G>C
n.220-5459G>C
c.105439C>G (p.Arg35147Gly)
c.79333C>G (p.Arg26445Gly)
c.79192C>G (p.Arg26398Gly)
c.105235C>G (p.Arg35079Gly)
c.100633C>G (p.Arg33545Gly)
c.100630C>G (p.Arg33544Gly)
c.97672C>G (p.Arg32558Gly)
c.79288C>G (p.Arg26430Gly)
c.100783C>G (p.Arg33595Gly)
c.100780C>G (p.Arg33594Gly)
c.100213C>G (p.Arg33405Gly)
c.97555C>G (p.Arg32519Gly)
c.97474C>G (p.Arg32492Gly)
c.79237C>G (p.Arg26413Gly)
c.69091C>G (p.Arg23031Gly)
2g.178530273G=CA1310511709TTN,TTN-AS1c.98638C= (p.Arg32880=)
c.79723C= (p.Arg26575=)
c.79522C= (p.Arg26508=)
c.79147C= (p.Arg26383=)
c.106342C= (p.Arg35448=)
c.101419C= (p.Arg33807=)
n.446+6637G=
n.220-5459G=
c.105439C= (p.Arg35147=)
c.79333C= (p.Arg26445=)
c.79192C= (p.Arg26398=)
c.105235C= (p.Arg35079=)
c.100633C= (p.Arg33545=)
c.100630C= (p.Arg33544=)
c.97672C= (p.Arg32558=)
c.79288C= (p.Arg26430=)
c.100783C= (p.Arg33595=)
c.100780C= (p.Arg33594=)
c.100213C= (p.Arg33405=)
c.97555C= (p.Arg32519=)
c.97474C= (p.Arg32492=)
c.79237C= (p.Arg26413=)
c.69091C= (p.Arg23031=)
2g.178530273G>TCA430235051TTN,TTN-AS1c.98638C>A (p.Arg32880=)
c.79723C>A (p.Arg26575=)
c.79522C>A (p.Arg26508=)
c.79147C>A (p.Arg26383=)
c.106342C>A (p.Arg35448=)
c.101419C>A (p.Arg33807=)
n.446+6637G>T
n.220-5459G>T
c.105439C>A (p.Arg35147=)
c.79333C>A (p.Arg26445=)
c.79192C>A (p.Arg26398=)
c.105235C>A (p.Arg35079=)
c.100633C>A (p.Arg33545=)
c.100630C>A (p.Arg33544=)
c.97672C>A (p.Arg32558=)
c.79288C>A (p.Arg26430=)
c.100783C>A (p.Arg33595=)
c.100780C>A (p.Arg33594=)
c.100213C>A (p.Arg33405=)
c.97555C>A (p.Arg32519=)
c.97474C>A (p.Arg32492=)
c.79237C>A (p.Arg26413=)
c.69091C>A (p.Arg23031=)
2g.178530274G>ACA430235053TTN,TTN-AS1c.98637C>T (p.Pro32879=)
c.79722C>T (p.Pro26574=)
c.79521C>T (p.Pro26507=)
c.79146C>T (p.Pro26382=)
c.106341C>T (p.Pro35447=)
c.101418C>T (p.Pro33806=)
n.446+6638G>A
n.220-5458G>A
c.105438C>T (p.Pro35146=)
c.79332C>T (p.Pro26444=)
c.79191C>T (p.Pro26397=)
c.105234C>T (p.Pro35078=)
c.100632C>T (p.Pro33544=)
c.100629C>T (p.Pro33543=)
c.97671C>T (p.Pro32557=)
c.79287C>T (p.Pro26429=)
c.100782C>T (p.Pro33594=)
c.100779C>T (p.Pro33593=)
c.100212C>T (p.Pro33404=)
c.97554C>T (p.Pro32518=)
c.97473C>T (p.Pro32491=)
c.79236C>T (p.Pro26412=)
c.69090C>T (p.Pro23030=)
2g.178530274G>CCA430235054TTN,TTN-AS1c.98637C>G (p.Pro32879=)
c.79722C>G (p.Pro26574=)
c.79521C>G (p.Pro26507=)
c.79146C>G (p.Pro26382=)
c.106341C>G (p.Pro35447=)
c.101418C>G (p.Pro33806=)
n.446+6638G>C
n.220-5458G>C
c.105438C>G (p.Pro35146=)
c.79332C>G (p.Pro26444=)
c.79191C>G (p.Pro26397=)
c.105234C>G (p.Pro35078=)
c.100632C>G (p.Pro33544=)
c.100629C>G (p.Pro33543=)
c.97671C>G (p.Pro32557=)
c.79287C>G (p.Pro26429=)
c.100782C>G (p.Pro33594=)
c.100779C>G (p.Pro33593=)
c.100212C>G (p.Pro33404=)
c.97554C>G (p.Pro32518=)
c.97473C>G (p.Pro32491=)
c.79236C>G (p.Pro26412=)
c.69090C>G (p.Pro23030=)
2g.178530274G>TCA430235055TTN,TTN-AS1c.98637C>A (p.Pro32879=)
c.79722C>A (p.Pro26574=)
c.79521C>A (p.Pro26507=)
c.79146C>A (p.Pro26382=)
c.106341C>A (p.Pro35447=)
c.101418C>A (p.Pro33806=)
n.446+6638G>T
n.220-5458G>T
c.105438C>A (p.Pro35146=)
c.79332C>A (p.Pro26444=)
c.79191C>A (p.Pro26397=)
c.105234C>A (p.Pro35078=)
c.100632C>A (p.Pro33544=)
c.100629C>A (p.Pro33543=)
c.97671C>A (p.Pro32557=)
c.79287C>A (p.Pro26429=)
c.100782C>A (p.Pro33594=)
c.100779C>A (p.Pro33593=)
c.100212C>A (p.Pro33404=)
c.97554C>A (p.Pro32518=)
c.97473C>A (p.Pro32491=)
c.79236C>A (p.Pro26412=)
c.69090C>A (p.Pro23030=)
 gnomAD v4
2g.178530275G>ACA349405993TTN,TTN-AS1c.98636C>T (p.Pro32879Leu)
c.79721C>T (p.Pro26574Leu)
c.79520C>T (p.Pro26507Leu)
c.79145C>T (p.Pro26382Leu)
c.106340C>T (p.Pro35447Leu)
c.101417C>T (p.Pro33806Leu)
n.446+6639G>A
n.220-5457G>A
c.105437C>T (p.Pro35146Leu)
c.79331C>T (p.Pro26444Leu)
c.79190C>T (p.Pro26397Leu)
c.105233C>T (p.Pro35078Leu)
c.100631C>T (p.Pro33544Leu)
c.100628C>T (p.Pro33543Leu)
c.97670C>T (p.Pro32557Leu)
c.79286C>T (p.Pro26429Leu)
c.100781C>T (p.Pro33594Leu)
c.100778C>T (p.Pro33593Leu)
c.100211C>T (p.Pro33404Leu)
c.97553C>T (p.Pro32518Leu)
c.97472C>T (p.Pro32491Leu)
c.79235C>T (p.Pro26412Leu)
c.69089C>T (p.Pro23030Leu)
2g.178530275G>CCA349405998TTN,TTN-AS1c.98636C>G (p.Pro32879Arg)
c.79721C>G (p.Pro26574Arg)
c.79520C>G (p.Pro26507Arg)
c.79145C>G (p.Pro26382Arg)
c.106340C>G (p.Pro35447Arg)
c.101417C>G (p.Pro33806Arg)
n.446+6639G>C
n.220-5457G>C
c.105437C>G (p.Pro35146Arg)
c.79331C>G (p.Pro26444Arg)
c.79190C>G (p.Pro26397Arg)
c.105233C>G (p.Pro35078Arg)
c.100631C>G (p.Pro33544Arg)
c.100628C>G (p.Pro33543Arg)
c.97670C>G (p.Pro32557Arg)
c.79286C>G (p.Pro26429Arg)
c.100781C>G (p.Pro33594Arg)
c.100778C>G (p.Pro33593Arg)
c.100211C>G (p.Pro33404Arg)
c.97553C>G (p.Pro32518Arg)
c.97472C>G (p.Pro32491Arg)
c.79235C>G (p.Pro26412Arg)
c.69089C>G (p.Pro23030Arg)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178530275G>TCA349405996TTN,TTN-AS1c.98636C>A (p.Pro32879His)
c.79721C>A (p.Pro26574His)
c.79520C>A (p.Pro26507His)
c.79145C>A (p.Pro26382His)
c.106340C>A (p.Pro35447His)
c.101417C>A (p.Pro33806His)
n.446+6639G>T
n.220-5457G>T
c.105437C>A (p.Pro35146His)
c.79331C>A (p.Pro26444His)
c.79190C>A (p.Pro26397His)
c.105233C>A (p.Pro35078His)
c.100631C>A (p.Pro33544His)
c.100628C>A (p.Pro33543His)
c.97670C>A (p.Pro32557His)
c.79286C>A (p.Pro26429His)
c.100781C>A (p.Pro33594His)
c.100778C>A (p.Pro33593His)
c.100211C>A (p.Pro33404His)
c.97553C>A (p.Pro32518His)
c.97472C>A (p.Pro32491His)
c.79235C>A (p.Pro26412His)
c.69089C>A (p.Pro23030His)
 dbSNP
2g.178530276G>ACA349406001TTN,TTN-AS1c.98635C>T (p.Pro32879Ser)
c.79720C>T (p.Pro26574Ser)
c.79519C>T (p.Pro26507Ser)
c.79144C>T (p.Pro26382Ser)
c.106339C>T (p.Pro35447Ser)
c.101416C>T (p.Pro33806Ser)
n.446+6640G>A
n.220-5456G>A
c.105436C>T (p.Pro35146Ser)
c.79330C>T (p.Pro26444Ser)
c.79189C>T (p.Pro26397Ser)
c.105232C>T (p.Pro35078Ser)
c.100630C>T (p.Pro33544Ser)
c.100627C>T (p.Pro33543Ser)
c.97669C>T (p.Pro32557Ser)
c.79285C>T (p.Pro26429Ser)
c.100780C>T (p.Pro33594Ser)
c.100777C>T (p.Pro33593Ser)
c.100210C>T (p.Pro33404Ser)
c.97552C>T (p.Pro32518Ser)
c.97471C>T (p.Pro32491Ser)
c.79234C>T (p.Pro26412Ser)
c.69088C>T (p.Pro23030Ser)
 gnomAD v4
2g.178530276G>CCA349406006TTN,TTN-AS1c.98635C>G (p.Pro32879Ala)
c.79720C>G (p.Pro26574Ala)
c.79519C>G (p.Pro26507Ala)
c.79144C>G (p.Pro26382Ala)
c.106339C>G (p.Pro35447Ala)
c.101416C>G (p.Pro33806Ala)
n.446+6640G>C
n.220-5456G>C
c.105436C>G (p.Pro35146Ala)
c.79330C>G (p.Pro26444Ala)
c.79189C>G (p.Pro26397Ala)
c.105232C>G (p.Pro35078Ala)
c.100630C>G (p.Pro33544Ala)
c.100627C>G (p.Pro33543Ala)
c.97669C>G (p.Pro32557Ala)
c.79285C>G (p.Pro26429Ala)
c.100780C>G (p.Pro33594Ala)
c.100777C>G (p.Pro33593Ala)
c.100210C>G (p.Pro33404Ala)
c.97552C>G (p.Pro32518Ala)
c.97471C>G (p.Pro32491Ala)
c.79234C>G (p.Pro26412Ala)
c.69088C>G (p.Pro23030Ala)
2g.178530276G>TCA349406003TTN,TTN-AS1c.98635C>A (p.Pro32879Thr)
c.79720C>A (p.Pro26574Thr)
c.79519C>A (p.Pro26507Thr)
c.79144C>A (p.Pro26382Thr)
c.106339C>A (p.Pro35447Thr)
c.101416C>A (p.Pro33806Thr)
n.446+6640G>T
n.220-5456G>T
c.105436C>A (p.Pro35146Thr)
c.79330C>A (p.Pro26444Thr)
c.79189C>A (p.Pro26397Thr)
c.105232C>A (p.Pro35078Thr)
c.100630C>A (p.Pro33544Thr)
c.100627C>A (p.Pro33543Thr)
c.97669C>A (p.Pro32557Thr)
c.79285C>A (p.Pro26429Thr)
c.100780C>A (p.Pro33594Thr)
c.100777C>A (p.Pro33593Thr)
c.100210C>A (p.Pro33404Thr)
c.97552C>A (p.Pro32518Thr)
c.97471C>A (p.Pro32491Thr)
c.79234C>A (p.Pro26412Thr)
c.69088C>A (p.Pro23030Thr)
2g.178530277T>ACA349406008TTN,TTN-AS1c.98634A>T (p.Glu32878Asp)
c.79719A>T (p.Glu26573Asp)
c.79518A>T (p.Glu26506Asp)
c.79143A>T (p.Glu26381Asp)
c.106338A>T (p.Glu35446Asp)
c.101415A>T (p.Glu33805Asp)
n.446+6641T>A
n.220-5455T>A
c.105435A>T (p.Glu35145Asp)
c.79329A>T (p.Glu26443Asp)
c.79188A>T (p.Glu26396Asp)
c.105231A>T (p.Glu35077Asp)
c.100629A>T (p.Glu33543Asp)
c.100626A>T (p.Glu33542Asp)
c.97668A>T (p.Glu32556Asp)
c.79284A>T (p.Glu26428Asp)
c.100779A>T (p.Glu33593Asp)
c.100776A>T (p.Glu33592Asp)
c.100209A>T (p.Glu33403Asp)
c.97551A>T (p.Glu32517Asp)
c.97470A>T (p.Glu32490Asp)
c.79233A>T (p.Glu26411Asp)
c.69087A>T (p.Glu23029Asp)
2g.178530277T>CCA430235059TTN,TTN-AS1c.98634A>G (p.Glu32878=)
c.79719A>G (p.Glu26573=)
c.79518A>G (p.Glu26506=)
c.79143A>G (p.Glu26381=)
c.106338A>G (p.Glu35446=)
c.101415A>G (p.Glu33805=)
n.446+6641T>C
n.220-5455T>C
c.105435A>G (p.Glu35145=)
c.79329A>G (p.Glu26443=)
c.79188A>G (p.Glu26396=)
c.105231A>G (p.Glu35077=)
c.100629A>G (p.Glu33543=)
c.100626A>G (p.Glu33542=)
c.97668A>G (p.Glu32556=)
c.79284A>G (p.Glu26428=)
c.100779A>G (p.Glu33593=)
c.100776A>G (p.Glu33592=)
c.100209A>G (p.Glu33403=)
c.97551A>G (p.Glu32517=)
c.97470A>G (p.Glu32490=)
c.79233A>G (p.Glu26411=)
c.69087A>G (p.Glu23029=)
2g.178530277T>GCA349406010TTN,TTN-AS1c.98634A>C (p.Glu32878Asp)
c.79719A>C (p.Glu26573Asp)
c.79518A>C (p.Glu26506Asp)
c.79143A>C (p.Glu26381Asp)
c.106338A>C (p.Glu35446Asp)
c.101415A>C (p.Glu33805Asp)
n.446+6641T>G
n.220-5455T>G
c.105435A>C (p.Glu35145Asp)
c.79329A>C (p.Glu26443Asp)
c.79188A>C (p.Glu26396Asp)
c.105231A>C (p.Glu35077Asp)
c.100629A>C (p.Glu33543Asp)
c.100626A>C (p.Glu33542Asp)
c.97668A>C (p.Glu32556Asp)
c.79284A>C (p.Glu26428Asp)
c.100779A>C (p.Glu33593Asp)
c.100776A>C (p.Glu33592Asp)
c.100209A>C (p.Glu33403Asp)
c.97551A>C (p.Glu32517Asp)
c.97470A>C (p.Glu32490Asp)
c.79233A>C (p.Glu26411Asp)
c.69087A>C (p.Glu23029Asp)
2g.178530278T>ACA349406013TTN,TTN-AS1c.98633A>T (p.Glu32878Val)
c.79718A>T (p.Glu26573Val)
c.79517A>T (p.Glu26506Val)
c.79142A>T (p.Glu26381Val)
c.106337A>T (p.Glu35446Val)
c.101414A>T (p.Glu33805Val)
n.446+6642T>A
n.220-5454T>A
c.105434A>T (p.Glu35145Val)
c.79328A>T (p.Glu26443Val)
c.79187A>T (p.Glu26396Val)
c.105230A>T (p.Glu35077Val)
c.100628A>T (p.Glu33543Val)
c.100625A>T (p.Glu33542Val)
c.97667A>T (p.Glu32556Val)
c.79283A>T (p.Glu26428Val)
c.100778A>T (p.Glu33593Val)
c.100775A>T (p.Glu33592Val)
c.100208A>T (p.Glu33403Val)
c.97550A>T (p.Glu32517Val)
c.97469A>T (p.Glu32490Val)
c.79232A>T (p.Glu26411Val)
c.69086A>T (p.Glu23029Val)
2g.178530278T>CCA349406017TTN,TTN-AS1c.98633A>G (p.Glu32878Gly)
c.79718A>G (p.Glu26573Gly)
c.79517A>G (p.Glu26506Gly)
c.79142A>G (p.Glu26381Gly)
c.106337A>G (p.Glu35446Gly)
c.101414A>G (p.Glu33805Gly)
n.446+6642T>C
n.220-5454T>C
c.105434A>G (p.Glu35145Gly)
c.79328A>G (p.Glu26443Gly)
c.79187A>G (p.Glu26396Gly)
c.105230A>G (p.Glu35077Gly)
c.100628A>G (p.Glu33543Gly)
c.100625A>G (p.Glu33542Gly)
c.97667A>G (p.Glu32556Gly)
c.79283A>G (p.Glu26428Gly)
c.100778A>G (p.Glu33593Gly)
c.100775A>G (p.Glu33592Gly)
c.100208A>G (p.Glu33403Gly)
c.97550A>G (p.Glu32517Gly)
c.97469A>G (p.Glu32490Gly)
c.79232A>G (p.Glu26411Gly)
c.69086A>G (p.Glu23029Gly)
2g.178530278T>GCA349406015TTN,TTN-AS1c.98633A>C (p.Glu32878Ala)
c.79718A>C (p.Glu26573Ala)
c.79517A>C (p.Glu26506Ala)
c.79142A>C (p.Glu26381Ala)
c.106337A>C (p.Glu35446Ala)
c.101414A>C (p.Glu33805Ala)
n.446+6642T>G
n.220-5454T>G
c.105434A>C (p.Glu35145Ala)
c.79328A>C (p.Glu26443Ala)
c.79187A>C (p.Glu26396Ala)
c.105230A>C (p.Glu35077Ala)
c.100628A>C (p.Glu33543Ala)
c.100625A>C (p.Glu33542Ala)
c.97667A>C (p.Glu32556Ala)
c.79283A>C (p.Glu26428Ala)
c.100778A>C (p.Glu33593Ala)
c.100775A>C (p.Glu33592Ala)
c.100208A>C (p.Glu33403Ala)
c.97550A>C (p.Glu32517Ala)
c.97469A>C (p.Glu32490Ala)
c.79232A>C (p.Glu26411Ala)
c.69086A>C (p.Glu23029Ala)
2g.178530279C>ACA349406020TTN,TTN-AS1c.98632G>T (p.Glu32878Ter)
c.79717G>T (p.Glu26573Ter)
c.79516G>T (p.Glu26506Ter)
c.79141G>T (p.Glu26381Ter)
c.106336G>T (p.Glu35446Ter)
c.101413G>T (p.Glu33805Ter)
n.446+6643C>A
n.220-5453C>A
c.105433G>T (p.Glu35145Ter)
c.79327G>T (p.Glu26443Ter)
c.79186G>T (p.Glu26396Ter)
c.105229G>T (p.Glu35077Ter)
c.100627G>T (p.Glu33543Ter)
c.100624G>T (p.Glu33542Ter)
c.97666G>T (p.Glu32556Ter)
c.79282G>T (p.Glu26428Ter)
c.100777G>T (p.Glu33593Ter)
c.100774G>T (p.Glu33592Ter)
c.100207G>T (p.Glu33403Ter)
c.97549G>T (p.Glu32517Ter)
c.97468G>T (p.Glu32490Ter)
c.79231G>T (p.Glu26411Ter)
c.69085G>T (p.Glu23029Ter)
2g.178530279C>GCA349406023TTN,TTN-AS1c.98632G>C (p.Glu32878Gln)
c.79717G>C (p.Glu26573Gln)
c.79516G>C (p.Glu26506Gln)
c.79141G>C (p.Glu26381Gln)
c.106336G>C (p.Glu35446Gln)
c.101413G>C (p.Glu33805Gln)
n.446+6643C>G
n.220-5453C>G
c.105433G>C (p.Glu35145Gln)
c.79327G>C (p.Glu26443Gln)
c.79186G>C (p.Glu26396Gln)
c.105229G>C (p.Glu35077Gln)
c.100627G>C (p.Glu33543Gln)
c.100624G>C (p.Glu33542Gln)
c.97666G>C (p.Glu32556Gln)
c.79282G>C (p.Glu26428Gln)
c.100777G>C (p.Glu33593Gln)
c.100774G>C (p.Glu33592Gln)
c.100207G>C (p.Glu33403Gln)
c.97549G>C (p.Glu32517Gln)
c.97468G>C (p.Glu32490Gln)
c.79231G>C (p.Glu26411Gln)
c.69085G>C (p.Glu23029Gln)
2g.178530279C>TCA349406022TTN,TTN-AS1c.98632G>A (p.Glu32878Lys)
c.79717G>A (p.Glu26573Lys)
c.79516G>A (p.Glu26506Lys)
c.79141G>A (p.Glu26381Lys)
c.106336G>A (p.Glu35446Lys)
c.101413G>A (p.Glu33805Lys)
n.446+6643C>T
n.220-5453C>T
c.105433G>A (p.Glu35145Lys)
c.79327G>A (p.Glu26443Lys)
c.79186G>A (p.Glu26396Lys)
c.105229G>A (p.Glu35077Lys)
c.100627G>A (p.Glu33543Lys)
c.100624G>A (p.Glu33542Lys)
c.97666G>A (p.Glu32556Lys)
c.79282G>A (p.Glu26428Lys)
c.100777G>A (p.Glu33593Lys)
c.100774G>A (p.Glu33592Lys)
c.100207G>A (p.Glu33403Lys)
c.97549G>A (p.Glu32517Lys)
c.97468G>A (p.Glu32490Lys)
c.79231G>A (p.Glu26411Lys)
c.69085G>A (p.Glu23029Lys)
2g.178530280T>ACA430235062TTN,TTN-AS1c.98631A>T (p.Gly32877=)
c.79716A>T (p.Gly26572=)
c.79515A>T (p.Gly26505=)
c.79140A>T (p.Gly26380=)
c.106335A>T (p.Gly35445=)
c.101412A>T (p.Gly33804=)
n.446+6644T>A
n.220-5452T>A
c.105432A>T (p.Gly35144=)
c.79326A>T (p.Gly26442=)
c.79185A>T (p.Gly26395=)
c.105228A>T (p.Gly35076=)
c.100626A>T (p.Gly33542=)
c.100623A>T (p.Gly33541=)
c.97665A>T (p.Gly32555=)
c.79281A>T (p.Gly26427=)
c.100776A>T (p.Gly33592=)
c.100773A>T (p.Gly33591=)
c.100206A>T (p.Gly33402=)
c.97548A>T (p.Gly32516=)
c.97467A>T (p.Gly32489=)
c.79230A>T (p.Gly26410=)
c.69084A>T (p.Gly23028=)
2g.178530280T>CCA430235064TTN,TTN-AS1c.98631A>G (p.Gly32877=)
c.79716A>G (p.Gly26572=)
c.79515A>G (p.Gly26505=)
c.79140A>G (p.Gly26380=)
c.106335A>G (p.Gly35445=)
c.101412A>G (p.Gly33804=)
n.446+6644T>C
n.220-5452T>C
c.105432A>G (p.Gly35144=)
c.79326A>G (p.Gly26442=)
c.79185A>G (p.Gly26395=)
c.105228A>G (p.Gly35076=)
c.100626A>G (p.Gly33542=)
c.100623A>G (p.Gly33541=)
c.97665A>G (p.Gly32555=)
c.79281A>G (p.Gly26427=)
c.100776A>G (p.Gly33592=)
c.100773A>G (p.Gly33591=)
c.100206A>G (p.Gly33402=)
c.97548A>G (p.Gly32516=)
c.97467A>G (p.Gly32489=)
c.79230A>G (p.Gly26410=)
c.69084A>G (p.Gly23028=)
2g.178530280T>GCA430235065TTN,TTN-AS1c.98631A>C (p.Gly32877=)
c.79716A>C (p.Gly26572=)
c.79515A>C (p.Gly26505=)
c.79140A>C (p.Gly26380=)
c.106335A>C (p.Gly35445=)
c.101412A>C (p.Gly33804=)
n.446+6644T>G
n.220-5452T>G
c.105432A>C (p.Gly35144=)
c.79326A>C (p.Gly26442=)
c.79185A>C (p.Gly26395=)
c.105228A>C (p.Gly35076=)
c.100626A>C (p.Gly33542=)
c.100623A>C (p.Gly33541=)
c.97665A>C (p.Gly32555=)
c.79281A>C (p.Gly26427=)
c.100776A>C (p.Gly33592=)
c.100773A>C (p.Gly33591=)
c.100206A>C (p.Gly33402=)
c.97548A>C (p.Gly32516=)
c.97467A>C (p.Gly32489=)
c.79230A>C (p.Gly26410=)
c.69084A>C (p.Gly23028=)
2g.178530281C>ACA349406024TTN,TTN-AS1c.98630G>T (p.Gly32877Val)
c.79715G>T (p.Gly26572Val)
c.79514G>T (p.Gly26505Val)
c.79139G>T (p.Gly26380Val)
c.106334G>T (p.Gly35445Val)
c.101411G>T (p.Gly33804Val)
n.446+6645C>A
n.220-5451C>A
c.105431G>T (p.Gly35144Val)
c.79325G>T (p.Gly26442Val)
c.79184G>T (p.Gly26395Val)
c.105227G>T (p.Gly35076Val)
c.100625G>T (p.Gly33542Val)
c.100622G>T (p.Gly33541Val)
c.97664G>T (p.Gly32555Val)
c.79280G>T (p.Gly26427Val)
c.100775G>T (p.Gly33592Val)
c.100772G>T (p.Gly33591Val)
c.100205G>T (p.Gly33402Val)
c.97547G>T (p.Gly32516Val)
c.97466G>T (p.Gly32489Val)
c.79229G>T (p.Gly26410Val)
c.69083G>T (p.Gly23028Val)
2g.178530281C>GCA349406027TTN,TTN-AS1c.98630G>C (p.Gly32877Ala)
c.79715G>C (p.Gly26572Ala)
c.79514G>C (p.Gly26505Ala)
c.79139G>C (p.Gly26380Ala)
c.106334G>C (p.Gly35445Ala)
c.101411G>C (p.Gly33804Ala)
n.446+6645C>G
n.220-5451C>G
c.105431G>C (p.Gly35144Ala)
c.79325G>C (p.Gly26442Ala)
c.79184G>C (p.Gly26395Ala)
c.105227G>C (p.Gly35076Ala)
c.100625G>C (p.Gly33542Ala)
c.100622G>C (p.Gly33541Ala)
c.97664G>C (p.Gly32555Ala)
c.79280G>C (p.Gly26427Ala)
c.100775G>C (p.Gly33592Ala)
c.100772G>C (p.Gly33591Ala)
c.100205G>C (p.Gly33402Ala)
c.97547G>C (p.Gly32516Ala)
c.97466G>C (p.Gly32489Ala)
c.79229G>C (p.Gly26410Ala)
c.69083G>C (p.Gly23028Ala)
2g.178530281C>TCA349406026TTN,TTN-AS1c.98630G>A (p.Gly32877Glu)
c.79715G>A (p.Gly26572Glu)
c.79514G>A (p.Gly26505Glu)
c.79139G>A (p.Gly26380Glu)
c.106334G>A (p.Gly35445Glu)
c.101411G>A (p.Gly33804Glu)
n.446+6645C>T
n.220-5451C>T
c.105431G>A (p.Gly35144Glu)
c.79325G>A (p.Gly26442Glu)
c.79184G>A (p.Gly26395Glu)
c.105227G>A (p.Gly35076Glu)
c.100625G>A (p.Gly33542Glu)
c.100622G>A (p.Gly33541Glu)
c.97664G>A (p.Gly32555Glu)
c.79280G>A (p.Gly26427Glu)
c.100775G>A (p.Gly33592Glu)
c.100772G>A (p.Gly33591Glu)
c.100205G>A (p.Gly33402Glu)
c.97547G>A (p.Gly32516Glu)
c.97466G>A (p.Gly32489Glu)
c.79229G>A (p.Gly26410Glu)
c.69083G>A (p.Gly23028Glu)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178530282C>ACA349406030TTN,TTN-AS1c.98629G>T (p.Gly32877Ter)
c.79714G>T (p.Gly26572Ter)
c.79513G>T (p.Gly26505Ter)
c.79138G>T (p.Gly26380Ter)
c.106333G>T (p.Gly35445Ter)
c.101410G>T (p.Gly33804Ter)
n.446+6646C>A
n.220-5450C>A
c.105430G>T (p.Gly35144Ter)
c.79324G>T (p.Gly26442Ter)
c.79183G>T (p.Gly26395Ter)
c.105226G>T (p.Gly35076Ter)
c.100624G>T (p.Gly33542Ter)
c.100621G>T (p.Gly33541Ter)
c.97663G>T (p.Gly32555Ter)
c.79279G>T (p.Gly26427Ter)
c.100774G>T (p.Gly33592Ter)
c.100771G>T (p.Gly33591Ter)
c.100204G>T (p.Gly33402Ter)
c.97546G>T (p.Gly32516Ter)
c.97465G>T (p.Gly32489Ter)
c.79228G>T (p.Gly26410Ter)
c.69082G>T (p.Gly23028Ter)
2g.178530282C>GCA349406034TTN,TTN-AS1c.98629G>C (p.Gly32877Arg)
c.79714G>C (p.Gly26572Arg)
c.79513G>C (p.Gly26505Arg)
c.79138G>C (p.Gly26380Arg)
c.106333G>C (p.Gly35445Arg)
c.101410G>C (p.Gly33804Arg)
n.446+6646C>G
n.220-5450C>G
c.105430G>C (p.Gly35144Arg)
c.79324G>C (p.Gly26442Arg)
c.79183G>C (p.Gly26395Arg)
c.105226G>C (p.Gly35076Arg)
c.100624G>C (p.Gly33542Arg)
c.100621G>C (p.Gly33541Arg)
c.97663G>C (p.Gly32555Arg)
c.79279G>C (p.Gly26427Arg)
c.100774G>C (p.Gly33592Arg)
c.100771G>C (p.Gly33591Arg)
c.100204G>C (p.Gly33402Arg)
c.97546G>C (p.Gly32516Arg)
c.97465G>C (p.Gly32489Arg)
c.79228G>C (p.Gly26410Arg)
c.69082G>C (p.Gly23028Arg)
2g.178530282C>TCA349406032TTN,TTN-AS1c.98629G>A (p.Gly32877Arg)
c.79714G>A (p.Gly26572Arg)
c.79513G>A (p.Gly26505Arg)
c.79138G>A (p.Gly26380Arg)
c.106333G>A (p.Gly35445Arg)
c.101410G>A (p.Gly33804Arg)
n.446+6646C>T
n.220-5450C>T
c.105430G>A (p.Gly35144Arg)
c.79324G>A (p.Gly26442Arg)
c.79183G>A (p.Gly26395Arg)
c.105226G>A (p.Gly35076Arg)
c.100624G>A (p.Gly33542Arg)
c.100621G>A (p.Gly33541Arg)
c.97663G>A (p.Gly32555Arg)
c.79279G>A (p.Gly26427Arg)
c.100774G>A (p.Gly33592Arg)
c.100771G>A (p.Gly33591Arg)
c.100204G>A (p.Gly33402Arg)
c.97546G>A (p.Gly32516Arg)
c.97465G>A (p.Gly32489Arg)
c.79228G>A (p.Gly26410Arg)
c.69082G>A (p.Gly23028Arg)
2g.178530283A>CCA430235067TTN,TTN-AS1c.98628T>G (p.Thr32876=)
c.79713T>G (p.Thr26571=)
c.79512T>G (p.Thr26504=)
c.79137T>G (p.Thr26379=)
c.106332T>G (p.Thr35444=)
c.101409T>G (p.Thr33803=)
n.446+6647A>C
n.220-5449A>C
c.105429T>G (p.Thr35143=)
c.79323T>G (p.Thr26441=)
c.79182T>G (p.Thr26394=)
c.105225T>G (p.Thr35075=)
c.100623T>G (p.Thr33541=)
c.100620T>G (p.Thr33540=)
c.97662T>G (p.Thr32554=)
c.79278T>G (p.Thr26426=)
c.100773T>G (p.Thr33591=)
c.100770T>G (p.Thr33590=)
c.100203T>G (p.Thr33401=)
c.97545T>G (p.Thr32515=)
c.97464T>G (p.Thr32488=)
c.79227T>G (p.Thr26409=)
c.69081T>G (p.Thr23027=)
 gnomAD v4
2g.178530283A>GCA430235068TTN,TTN-AS1c.98628T>C (p.Thr32876=)
c.79713T>C (p.Thr26571=)
c.79512T>C (p.Thr26504=)
c.79137T>C (p.Thr26379=)
c.106332T>C (p.Thr35444=)
c.101409T>C (p.Thr33803=)
n.446+6647A>G
n.220-5449A>G
c.105429T>C (p.Thr35143=)
c.79323T>C (p.Thr26441=)
c.79182T>C (p.Thr26394=)
c.105225T>C (p.Thr35075=)
c.100623T>C (p.Thr33541=)
c.100620T>C (p.Thr33540=)
c.97662T>C (p.Thr32554=)
c.79278T>C (p.Thr26426=)
c.100773T>C (p.Thr33591=)
c.100770T>C (p.Thr33590=)
c.100203T>C (p.Thr33401=)
c.97545T>C (p.Thr32515=)
c.97464T>C (p.Thr32488=)
c.79227T>C (p.Thr26409=)
c.69081T>C (p.Thr23027=)
 dbSNP gnomAD v4
2g.178530283A>TCA430235069TTN,TTN-AS1c.98628T>A (p.Thr32876=)
c.79713T>A (p.Thr26571=)
c.79512T>A (p.Thr26504=)
c.79137T>A (p.Thr26379=)
c.106332T>A (p.Thr35444=)
c.101409T>A (p.Thr33803=)
n.446+6647A>T
n.220-5449A>T
c.105429T>A (p.Thr35143=)
c.79323T>A (p.Thr26441=)
c.79182T>A (p.Thr26394=)
c.105225T>A (p.Thr35075=)
c.100623T>A (p.Thr33541=)
c.100620T>A (p.Thr33540=)
c.97662T>A (p.Thr32554=)
c.79278T>A (p.Thr26426=)
c.100773T>A (p.Thr33591=)
c.100770T>A (p.Thr33590=)
c.100203T>A (p.Thr33401=)
c.97545T>A (p.Thr32515=)
c.97464T>A (p.Thr32488=)
c.79227T>A (p.Thr26409=)
c.69081T>A (p.Thr23027=)
 gnomAD v4
2g.178530283_178530284dupCA2586970733TTN,TTN-AS1c.98627_98628dup (p.Gly32877LeufsTer?)
c.79712_79713dup (p.Gly26572LeufsTer?)
c.79511_79512dup (p.Gly26505LeufsTer?)
c.79136_79137dup (p.Gly26380LeufsTer?)
c.106331_106332dup (p.Gly35445LeufsTer?)
c.101408_101409dup (p.Gly33804LeufsTer?)
n.446+6647_446+6648dup
n.220-5449_220-5448dup
c.105428_105429dup (p.Gly35144LeufsTer?)
c.79322_79323dup (p.Gly26442LeufsTer?)
c.79181_79182dup (p.Gly26395LeufsTer?)
c.105224_105225dup (p.Gly35076LeufsTer?)
c.100622_100623dup (p.Gly33542LeufsTer?)
c.100619_100620dup (p.Gly33541LeufsTer?)
c.97661_97662dup (p.Gly32555LeufsTer?)
c.79277_79278dup (p.Gly26427LeufsTer?)
c.100772_100773dup (p.Gly33592LeufsTer?)
c.100769_100770dup (p.Gly33591LeufsTer?)
c.100202_100203dup (p.Gly33402LeufsTer?)
c.97544_97545dup (p.Gly32516LeufsTer?)
c.97463_97464dup (p.Gly32489LeufsTer?)
c.79226_79227dup (p.Gly26410LeufsTer?)
c.69080_69081dup (p.Gly23028LeufsTer?)
2g.178530284G>ACA349406037TTN,TTN-AS1c.98627C>T (p.Thr32876Ile)
c.79712C>T (p.Thr26571Ile)
c.79511C>T (p.Thr26504Ile)
c.79136C>T (p.Thr26379Ile)
c.106331C>T (p.Thr35444Ile)
c.101408C>T (p.Thr33803Ile)
n.446+6648G>A
n.220-5448G>A
c.105428C>T (p.Thr35143Ile)
c.79322C>T (p.Thr26441Ile)
c.79181C>T (p.Thr26394Ile)
c.105224C>T (p.Thr35075Ile)
c.100622C>T (p.Thr33541Ile)
c.100619C>T (p.Thr33540Ile)
c.97661C>T (p.Thr32554Ile)
c.79277C>T (p.Thr26426Ile)
c.100772C>T (p.Thr33591Ile)
c.100769C>T (p.Thr33590Ile)
c.100202C>T (p.Thr33401Ile)
c.97544C>T (p.Thr32515Ile)
c.97463C>T (p.Thr32488Ile)
c.79226C>T (p.Thr26409Ile)
c.69080C>T (p.Thr23027Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178530284G>CCA349406040TTN,TTN-AS1c.98627C>G (p.Thr32876Ser)
c.79712C>G (p.Thr26571Ser)
c.79511C>G (p.Thr26504Ser)
c.79136C>G (p.Thr26379Ser)
c.106331C>G (p.Thr35444Ser)
c.101408C>G (p.Thr33803Ser)
n.446+6648G>C
n.220-5448G>C
c.105428C>G (p.Thr35143Ser)
c.79322C>G (p.Thr26441Ser)
c.79181C>G (p.Thr26394Ser)
c.105224C>G (p.Thr35075Ser)
c.100622C>G (p.Thr33541Ser)
c.100619C>G (p.Thr33540Ser)
c.97661C>G (p.Thr32554Ser)
c.79277C>G (p.Thr26426Ser)
c.100772C>G (p.Thr33591Ser)
c.100769C>G (p.Thr33590Ser)
c.100202C>G (p.Thr33401Ser)
c.97544C>G (p.Thr32515Ser)
c.97463C>G (p.Thr32488Ser)
c.79226C>G (p.Thr26409Ser)
c.69080C>G (p.Thr23027Ser)
2g.178530284G=CA1310511715TTN,TTN-AS1c.98627C= (p.Thr32876=)
c.79712C= (p.Thr26571=)
c.79511C= (p.Thr26504=)
c.79136C= (p.Thr26379=)
c.106331C= (p.Thr35444=)
c.101408C= (p.Thr33803=)
n.446+6648G=
n.220-5448G=
c.105428C= (p.Thr35143=)
c.79322C= (p.Thr26441=)
c.79181C= (p.Thr26394=)
c.105224C= (p.Thr35075=)
c.100622C= (p.Thr33541=)
c.100619C= (p.Thr33540=)
c.97661C= (p.Thr32554=)
c.79277C= (p.Thr26426=)
c.100772C= (p.Thr33591=)
c.100769C= (p.Thr33590=)
c.100202C= (p.Thr33401=)
c.97544C= (p.Thr32515=)
c.97463C= (p.Thr32488=)
c.79226C= (p.Thr26409=)
c.69080C= (p.Thr23027=)
2g.178530284G>TCA349406042TTN,TTN-AS1c.98627C>A (p.Thr32876Asn)
c.79712C>A (p.Thr26571Asn)
c.79511C>A (p.Thr26504Asn)
c.79136C>A (p.Thr26379Asn)
c.106331C>A (p.Thr35444Asn)
c.101408C>A (p.Thr33803Asn)
n.446+6648G>T
n.220-5448G>T
c.105428C>A (p.Thr35143Asn)
c.79322C>A (p.Thr26441Asn)
c.79181C>A (p.Thr26394Asn)
c.105224C>A (p.Thr35075Asn)
c.100622C>A (p.Thr33541Asn)
c.100619C>A (p.Thr33540Asn)
c.97661C>A (p.Thr32554Asn)
c.79277C>A (p.Thr26426Asn)
c.100772C>A (p.Thr33591Asn)
c.100769C>A (p.Thr33590Asn)
c.100202C>A (p.Thr33401Asn)
c.97544C>A (p.Thr32515Asn)
c.97463C>A (p.Thr32488Asn)
c.79226C>A (p.Thr26409Asn)
c.69080C>A (p.Thr23027Asn)
2g.178530285T>ACA349406045TTN,TTN-AS1c.98626A>T (p.Thr32876Ser)
c.79711A>T (p.Thr26571Ser)
c.79510A>T (p.Thr26504Ser)
c.79135A>T (p.Thr26379Ser)
c.106330A>T (p.Thr35444Ser)
c.101407A>T (p.Thr33803Ser)
n.446+6649T>A
n.220-5447T>A
c.105427A>T (p.Thr35143Ser)
c.79321A>T (p.Thr26441Ser)
c.79180A>T (p.Thr26394Ser)
c.105223A>T (p.Thr35075Ser)
c.100621A>T (p.Thr33541Ser)
c.100618A>T (p.Thr33540Ser)
c.97660A>T (p.Thr32554Ser)
c.79276A>T (p.Thr26426Ser)
c.100771A>T (p.Thr33591Ser)
c.100768A>T (p.Thr33590Ser)
c.100201A>T (p.Thr33401Ser)
c.97543A>T (p.Thr32515Ser)
c.97462A>T (p.Thr32488Ser)
c.79225A>T (p.Thr26409Ser)
c.69079A>T (p.Thr23027Ser)
 ClinVar dbSNP
2g.178530285T>CCA349406047TTN,TTN-AS1c.98626A>G (p.Thr32876Ala)
c.79711A>G (p.Thr26571Ala)
c.79510A>G (p.Thr26504Ala)
c.79135A>G (p.Thr26379Ala)
c.106330A>G (p.Thr35444Ala)
c.101407A>G (p.Thr33803Ala)
n.446+6649T>C
n.220-5447T>C
c.105427A>G (p.Thr35143Ala)
c.79321A>G (p.Thr26441Ala)
c.79180A>G (p.Thr26394Ala)
c.105223A>G (p.Thr35075Ala)
c.100621A>G (p.Thr33541Ala)
c.100618A>G (p.Thr33540Ala)
c.97660A>G (p.Thr32554Ala)
c.79276A>G (p.Thr26426Ala)
c.100771A>G (p.Thr33591Ala)
c.100768A>G (p.Thr33590Ala)
c.100201A>G (p.Thr33401Ala)
c.97543A>G (p.Thr32515Ala)
c.97462A>G (p.Thr32488Ala)
c.79225A>G (p.Thr26409Ala)
c.69079A>G (p.Thr23027Ala)
 ClinVar dbSNP gnomAD v4
2g.178530285T>GCA349406050TTN,TTN-AS1c.98626A>C (p.Thr32876Pro)
c.79711A>C (p.Thr26571Pro)
c.79510A>C (p.Thr26504Pro)
c.79135A>C (p.Thr26379Pro)
c.106330A>C (p.Thr35444Pro)
c.101407A>C (p.Thr33803Pro)
n.446+6649T>G
n.220-5447T>G
c.105427A>C (p.Thr35143Pro)
c.79321A>C (p.Thr26441Pro)
c.79180A>C (p.Thr26394Pro)
c.105223A>C (p.Thr35075Pro)
c.100621A>C (p.Thr33541Pro)
c.100618A>C (p.Thr33540Pro)
c.97660A>C (p.Thr32554Pro)
c.79276A>C (p.Thr26426Pro)
c.100771A>C (p.Thr33591Pro)
c.100768A>C (p.Thr33590Pro)
c.100201A>C (p.Thr33401Pro)
c.97543A>C (p.Thr32515Pro)
c.97462A>C (p.Thr32488Pro)
c.79225A>C (p.Thr26409Pro)
c.69079A>C (p.Thr23027Pro)
 gnomAD v4
2g.178530285T=CA1310511717TTN,TTN-AS1c.98626A= (p.Thr32876=)
c.79711A= (p.Thr26571=)
c.79510A= (p.Thr26504=)
c.79135A= (p.Thr26379=)
c.106330A= (p.Thr35444=)
c.101407A= (p.Thr33803=)
n.446+6649T=
n.220-5447T=
c.105427A= (p.Thr35143=)
c.79321A= (p.Thr26441=)
c.79180A= (p.Thr26394=)
c.105223A= (p.Thr35075=)
c.100621A= (p.Thr33541=)
c.100618A= (p.Thr33540=)
c.97660A= (p.Thr32554=)
c.79276A= (p.Thr26426=)
c.100771A= (p.Thr33591=)
c.100768A= (p.Thr33590=)
c.100201A= (p.Thr33401=)
c.97543A= (p.Thr32515=)
c.97462A= (p.Thr32488=)
c.79225A= (p.Thr26409=)
c.69079A= (p.Thr23027=)
2g.178530286A>CCA430235072TTN,TTN-AS1c.98625T>G (p.Ala32875=)
c.79710T>G (p.Ala26570=)
c.79509T>G (p.Ala26503=)
c.79134T>G (p.Ala26378=)
c.106329T>G (p.Ala35443=)
c.101406T>G (p.Ala33802=)
n.446+6650A>C
n.220-5446A>C
c.105426T>G (p.Ala35142=)
c.79320T>G (p.Ala26440=)
c.79179T>G (p.Ala26393=)
c.105222T>G (p.Ala35074=)
c.100620T>G (p.Ala33540=)
c.100617T>G (p.Ala33539=)
c.97659T>G (p.Ala32553=)
c.79275T>G (p.Ala26425=)
c.100770T>G (p.Ala33590=)
c.100767T>G (p.Ala33589=)
c.100200T>G (p.Ala33400=)
c.97542T>G (p.Ala32514=)
c.97461T>G (p.Ala32487=)
c.79224T>G (p.Ala26408=)
c.69078T>G (p.Ala23026=)
2g.178530286A>GCA430235073TTN,TTN-AS1c.98625T>C (p.Ala32875=)
c.79710T>C (p.Ala26570=)
c.79509T>C (p.Ala26503=)
c.79134T>C (p.Ala26378=)
c.106329T>C (p.Ala35443=)
c.101406T>C (p.Ala33802=)
n.446+6650A>G
n.220-5446A>G
c.105426T>C (p.Ala35142=)
c.79320T>C (p.Ala26440=)
c.79179T>C (p.Ala26393=)
c.105222T>C (p.Ala35074=)
c.100620T>C (p.Ala33540=)
c.100617T>C (p.Ala33539=)
c.97659T>C (p.Ala32553=)
c.79275T>C (p.Ala26425=)
c.100770T>C (p.Ala33590=)
c.100767T>C (p.Ala33589=)
c.100200T>C (p.Ala33400=)
c.97542T>C (p.Ala32514=)
c.97461T>C (p.Ala32487=)
c.79224T>C (p.Ala26408=)
c.69078T>C (p.Ala23026=)
2g.178530286A>TCA430235074TTN,TTN-AS1c.98625T>A (p.Ala32875=)
c.79710T>A (p.Ala26570=)
c.79509T>A (p.Ala26503=)
c.79134T>A (p.Ala26378=)
c.106329T>A (p.Ala35443=)
c.101406T>A (p.Ala33802=)
n.446+6650A>T
n.220-5446A>T
c.105426T>A (p.Ala35142=)
c.79320T>A (p.Ala26440=)
c.79179T>A (p.Ala26393=)
c.105222T>A (p.Ala35074=)
c.100620T>A (p.Ala33540=)
c.100617T>A (p.Ala33539=)
c.97659T>A (p.Ala32553=)
c.79275T>A (p.Ala26425=)
c.100770T>A (p.Ala33590=)
c.100767T>A (p.Ala33589=)
c.100200T>A (p.Ala33400=)
c.97542T>A (p.Ala32514=)
c.97461T>A (p.Ala32487=)
c.79224T>A (p.Ala26408=)
c.69078T>A (p.Ala23026=)
2g.178530287G>ACA349406053TTN,TTN-AS1c.98624C>T (p.Ala32875Val)
c.79709C>T (p.Ala26570Val)
c.79508C>T (p.Ala26503Val)
c.79133C>T (p.Ala26378Val)
c.106328C>T (p.Ala35443Val)
c.101405C>T (p.Ala33802Val)
n.446+6651G>A
n.220-5445G>A
c.105425C>T (p.Ala35142Val)
c.79319C>T (p.Ala26440Val)
c.79178C>T (p.Ala26393Val)
c.105221C>T (p.Ala35074Val)
c.100619C>T (p.Ala33540Val)
c.100616C>T (p.Ala33539Val)
c.97658C>T (p.Ala32553Val)
c.79274C>T (p.Ala26425Val)
c.100769C>T (p.Ala33590Val)
c.100766C>T (p.Ala33589Val)
c.100199C>T (p.Ala33400Val)
c.97541C>T (p.Ala32514Val)
c.97460C>T (p.Ala32487Val)
c.79223C>T (p.Ala26408Val)
c.69077C>T (p.Ala23026Val)
2g.178530287G>CCA349406055TTN,TTN-AS1c.98624C>G (p.Ala32875Gly)
c.79709C>G (p.Ala26570Gly)
c.79508C>G (p.Ala26503Gly)
c.79133C>G (p.Ala26378Gly)
c.106328C>G (p.Ala35443Gly)
c.101405C>G (p.Ala33802Gly)
n.446+6651G>C
n.220-5445G>C
c.105425C>G (p.Ala35142Gly)
c.79319C>G (p.Ala26440Gly)
c.79178C>G (p.Ala26393Gly)
c.105221C>G (p.Ala35074Gly)
c.100619C>G (p.Ala33540Gly)
c.100616C>G (p.Ala33539Gly)
c.97658C>G (p.Ala32553Gly)
c.79274C>G (p.Ala26425Gly)
c.100769C>G (p.Ala33590Gly)
c.100766C>G (p.Ala33589Gly)
c.100199C>G (p.Ala33400Gly)
c.97541C>G (p.Ala32514Gly)
c.97460C>G (p.Ala32487Gly)
c.79223C>G (p.Ala26408Gly)
c.69077C>G (p.Ala23026Gly)
 gnomAD v4
2g.178530287G>TCA349406057TTN,TTN-AS1c.98624C>A (p.Ala32875Asp)
c.79709C>A (p.Ala26570Asp)
c.79508C>A (p.Ala26503Asp)
c.79133C>A (p.Ala26378Asp)
c.106328C>A (p.Ala35443Asp)
c.101405C>A (p.Ala33802Asp)
n.446+6651G>T
n.220-5445G>T
c.105425C>A (p.Ala35142Asp)
c.79319C>A (p.Ala26440Asp)
c.79178C>A (p.Ala26393Asp)
c.105221C>A (p.Ala35074Asp)
c.100619C>A (p.Ala33540Asp)
c.100616C>A (p.Ala33539Asp)
c.97658C>A (p.Ala32553Asp)
c.79274C>A (p.Ala26425Asp)
c.100769C>A (p.Ala33590Asp)
c.100766C>A (p.Ala33589Asp)
c.100199C>A (p.Ala33400Asp)
c.97541C>A (p.Ala32514Asp)
c.97460C>A (p.Ala32487Asp)
c.79223C>A (p.Ala26408Asp)
c.69077C>A (p.Ala23026Asp)
2g.178530288C>ACA349406067TTN,TTN-AS1c.98623G>T (p.Ala32875Ser)
c.79708G>T (p.Ala26570Ser)
c.79507G>T (p.Ala26503Ser)
c.79132G>T (p.Ala26378Ser)
c.106327G>T (p.Ala35443Ser)
c.101404G>T (p.Ala33802Ser)
n.446+6652C>A
n.220-5444C>A
c.105424G>T (p.Ala35142Ser)
c.79318G>T (p.Ala26440Ser)
c.79177G>T (p.Ala26393Ser)
c.105220G>T (p.Ala35074Ser)
c.100618G>T (p.Ala33540Ser)
c.100615G>T (p.Ala33539Ser)
c.97657G>T (p.Ala32553Ser)
c.79273G>T (p.Ala26425Ser)
c.100768G>T (p.Ala33590Ser)
c.100765G>T (p.Ala33589Ser)
c.100198G>T (p.Ala33400Ser)
c.97540G>T (p.Ala32514Ser)
c.97459G>T (p.Ala32487Ser)
c.79222G>T (p.Ala26408Ser)
c.69076G>T (p.Ala23026Ser)
2g.178530288C=CA1310511725TTN,TTN-AS1c.98623G= (p.Ala32875=)
c.79708G= (p.Ala26570=)
c.79507G= (p.Ala26503=)
c.79132G= (p.Ala26378=)
c.106327G= (p.Ala35443=)
c.101404G= (p.Ala33802=)
n.446+6652C=
n.220-5444C=
c.105424G= (p.Ala35142=)
c.79318G= (p.Ala26440=)
c.79177G= (p.Ala26393=)
c.105220G= (p.Ala35074=)
c.100618G= (p.Ala33540=)
c.100615G= (p.Ala33539=)
c.97657G= (p.Ala32553=)
c.79273G= (p.Ala26425=)
c.100768G= (p.Ala33590=)
c.100765G= (p.Ala33589=)
c.100198G= (p.Ala33400=)
c.97540G= (p.Ala32514=)
c.97459G= (p.Ala32487=)
c.79222G= (p.Ala26408=)
c.69076G= (p.Ala23026=)
2g.178530288C>GCA349406063TTN,TTN-AS1c.98623G>C (p.Ala32875Pro)
c.79708G>C (p.Ala26570Pro)
c.79507G>C (p.Ala26503Pro)
c.79132G>C (p.Ala26378Pro)
c.106327G>C (p.Ala35443Pro)
c.101404G>C (p.Ala33802Pro)
n.446+6652C>G
n.220-5444C>G
c.105424G>C (p.Ala35142Pro)
c.79318G>C (p.Ala26440Pro)
c.79177G>C (p.Ala26393Pro)
c.105220G>C (p.Ala35074Pro)
c.100618G>C (p.Ala33540Pro)
c.100615G>C (p.Ala33539Pro)
c.97657G>C (p.Ala32553Pro)
c.79273G>C (p.Ala26425Pro)
c.100768G>C (p.Ala33590Pro)
c.100765G>C (p.Ala33589Pro)
c.100198G>C (p.Ala33400Pro)
c.97540G>C (p.Ala32514Pro)
c.97459G>C (p.Ala32487Pro)
c.79222G>C (p.Ala26408Pro)
c.69076G>C (p.Ala23026Pro)
2g.178530288C>TCA349406061TTN,TTN-AS1c.98623G>A (p.Ala32875Thr)
c.79708G>A (p.Ala26570Thr)
c.79507G>A (p.Ala26503Thr)
c.79132G>A (p.Ala26378Thr)
c.106327G>A (p.Ala35443Thr)
c.101404G>A (p.Ala33802Thr)
n.446+6652C>T
n.220-5444C>T
c.105424G>A (p.Ala35142Thr)
c.79318G>A (p.Ala26440Thr)
c.79177G>A (p.Ala26393Thr)
c.105220G>A (p.Ala35074Thr)
c.100618G>A (p.Ala33540Thr)
c.100615G>A (p.Ala33539Thr)
c.97657G>A (p.Ala32553Thr)
c.79273G>A (p.Ala26425Thr)
c.100768G>A (p.Ala33590Thr)
c.100765G>A (p.Ala33589Thr)
c.100198G>A (p.Ala33400Thr)
c.97540G>A (p.Ala32514Thr)
c.97459G>A (p.Ala32487Thr)
c.79222G>A (p.Ala26408Thr)
c.69076G>A (p.Ala23026Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178530289C>ACA349406070TTN,TTN-AS1c.98622G>T (p.Lys32874Asn)
c.79707G>T (p.Lys26569Asn)
c.79506G>T (p.Lys26502Asn)
c.79131G>T (p.Lys26377Asn)
c.106326G>T (p.Lys35442Asn)
c.101403G>T (p.Lys33801Asn)
n.446+6653C>A
n.220-5443C>A
c.105423G>T (p.Lys35141Asn)
c.79317G>T (p.Lys26439Asn)
c.79176G>T (p.Lys26392Asn)
c.105219G>T (p.Lys35073Asn)
c.100617G>T (p.Lys33539Asn)
c.100614G>T (p.Lys33538Asn)
c.97656G>T (p.Lys32552Asn)
c.79272G>T (p.Lys26424Asn)
c.100767G>T (p.Lys33589Asn)
c.100764G>T (p.Lys33588Asn)
c.100197G>T (p.Lys33399Asn)
c.97539G>T (p.Lys32513Asn)
c.97458G>T (p.Lys32486Asn)
c.79221G>T (p.Lys26407Asn)
c.69075G>T (p.Lys23025Asn)
2g.178530289C=CA1310511727TTN,TTN-AS1c.98622G= (p.Lys32874=)
c.79707G= (p.Lys26569=)
c.79506G= (p.Lys26502=)
c.79131G= (p.Lys26377=)
c.106326G= (p.Lys35442=)
c.101403G= (p.Lys33801=)
n.446+6653C=
n.220-5443C=
c.105423G= (p.Lys35141=)
c.79317G= (p.Lys26439=)
c.79176G= (p.Lys26392=)
c.105219G= (p.Lys35073=)
c.100617G= (p.Lys33539=)
c.100614G= (p.Lys33538=)
c.97656G= (p.Lys32552=)
c.79272G= (p.Lys26424=)
c.100767G= (p.Lys33589=)
c.100764G= (p.Lys33588=)
c.100197G= (p.Lys33399=)
c.97539G= (p.Lys32513=)
c.97458G= (p.Lys32486=)
c.79221G= (p.Lys26407=)
c.69075G= (p.Lys23025=)
2g.178530289C>GCA349406071TTN,TTN-AS1c.98622G>C (p.Lys32874Asn)
c.79707G>C (p.Lys26569Asn)
c.79506G>C (p.Lys26502Asn)
c.79131G>C (p.Lys26377Asn)
c.106326G>C (p.Lys35442Asn)
c.101403G>C (p.Lys33801Asn)
n.446+6653C>G
n.220-5443C>G
c.105423G>C (p.Lys35141Asn)
c.79317G>C (p.Lys26439Asn)
c.79176G>C (p.Lys26392Asn)
c.105219G>C (p.Lys35073Asn)
c.100617G>C (p.Lys33539Asn)
c.100614G>C (p.Lys33538Asn)
c.97656G>C (p.Lys32552Asn)
c.79272G>C (p.Lys26424Asn)
c.100767G>C (p.Lys33589Asn)
c.100764G>C (p.Lys33588Asn)
c.100197G>C (p.Lys33399Asn)
c.97539G>C (p.Lys32513Asn)
c.97458G>C (p.Lys32486Asn)
c.79221G>C (p.Lys26407Asn)
c.69075G>C (p.Lys23025Asn)
2g.178530289C>TCA430235079TTN,TTN-AS1c.98622G>A (p.Lys32874=)
c.79707G>A (p.Lys26569=)
c.79506G>A (p.Lys26502=)
c.79131G>A (p.Lys26377=)
c.106326G>A (p.Lys35442=)
c.101403G>A (p.Lys33801=)
n.446+6653C>T
n.220-5443C>T
c.105423G>A (p.Lys35141=)
c.79317G>A (p.Lys26439=)
c.79176G>A (p.Lys26392=)
c.105219G>A (p.Lys35073=)
c.100617G>A (p.Lys33539=)
c.100614G>A (p.Lys33538=)
c.97656G>A (p.Lys32552=)
c.79272G>A (p.Lys26424=)
c.100767G>A (p.Lys33589=)
c.100764G>A (p.Lys33588=)
c.100197G>A (p.Lys33399=)
c.97539G>A (p.Lys32513=)
c.97458G>A (p.Lys32486=)
c.79221G>A (p.Lys26407=)
c.69075G>A (p.Lys23025=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178530290T>ACA349406073TTN,TTN-AS1c.98621A>T (p.Lys32874Met)
c.79706A>T (p.Lys26569Met)
c.79505A>T (p.Lys26502Met)
c.79130A>T (p.Lys26377Met)
c.106325A>T (p.Lys35442Met)
c.101402A>T (p.Lys33801Met)
n.446+6654T>A
n.220-5442T>A
c.105422A>T (p.Lys35141Met)
c.79316A>T (p.Lys26439Met)
c.79175A>T (p.Lys26392Met)
c.105218A>T (p.Lys35073Met)
c.100616A>T (p.Lys33539Met)
c.100613A>T (p.Lys33538Met)
c.97655A>T (p.Lys32552Met)
c.79271A>T (p.Lys26424Met)
c.100766A>T (p.Lys33589Met)
c.100763A>T (p.Lys33588Met)
c.100196A>T (p.Lys33399Met)
c.97538A>T (p.Lys32513Met)
c.97457A>T (p.Lys32486Met)
c.79220A>T (p.Lys26407Met)
c.69074A>T (p.Lys23025Met)
2g.178530290T>CCA349406075TTN,TTN-AS1c.98621A>G (p.Lys32874Arg)
c.79706A>G (p.Lys26569Arg)
c.79505A>G (p.Lys26502Arg)
c.79130A>G (p.Lys26377Arg)
c.106325A>G (p.Lys35442Arg)
c.101402A>G (p.Lys33801Arg)
n.446+6654T>C
n.220-5442T>C
c.105422A>G (p.Lys35141Arg)
c.79316A>G (p.Lys26439Arg)
c.79175A>G (p.Lys26392Arg)
c.105218A>G (p.Lys35073Arg)
c.100616A>G (p.Lys33539Arg)
c.100613A>G (p.Lys33538Arg)
c.97655A>G (p.Lys32552Arg)
c.79271A>G (p.Lys26424Arg)
c.100766A>G (p.Lys33589Arg)
c.100763A>G (p.Lys33588Arg)
c.100196A>G (p.Lys33399Arg)
c.97538A>G (p.Lys32513Arg)
c.97457A>G (p.Lys32486Arg)
c.79220A>G (p.Lys26407Arg)
c.69074A>G (p.Lys23025Arg)
 ClinVar dbSNP gnomAD v4
2g.178530290T>GCA349406078TTN,TTN-AS1c.98621A>C (p.Lys32874Thr)
c.79706A>C (p.Lys26569Thr)
c.79505A>C (p.Lys26502Thr)
c.79130A>C (p.Lys26377Thr)
c.106325A>C (p.Lys35442Thr)
c.101402A>C (p.Lys33801Thr)
n.446+6654T>G
n.220-5442T>G
c.105422A>C (p.Lys35141Thr)
c.79316A>C (p.Lys26439Thr)
c.79175A>C (p.Lys26392Thr)
c.105218A>C (p.Lys35073Thr)
c.100616A>C (p.Lys33539Thr)
c.100613A>C (p.Lys33538Thr)
c.97655A>C (p.Lys32552Thr)
c.79271A>C (p.Lys26424Thr)
c.100766A>C (p.Lys33589Thr)
c.100763A>C (p.Lys33588Thr)
c.100196A>C (p.Lys33399Thr)
c.97538A>C (p.Lys32513Thr)
c.97457A>C (p.Lys32486Thr)
c.79220A>C (p.Lys26407Thr)
c.69074A>C (p.Lys23025Thr)
2g.178530290T=CA1310511731TTN,TTN-AS1c.98621A= (p.Lys32874=)
c.79706A= (p.Lys26569=)
c.79505A= (p.Lys26502=)
c.79130A= (p.Lys26377=)
c.106325A= (p.Lys35442=)
c.101402A= (p.Lys33801=)
n.446+6654T=
n.220-5442T=
c.105422A= (p.Lys35141=)
c.79316A= (p.Lys26439=)
c.79175A= (p.Lys26392=)
c.105218A= (p.Lys35073=)
c.100616A= (p.Lys33539=)
c.100613A= (p.Lys33538=)
c.97655A= (p.Lys32552=)
c.79271A= (p.Lys26424=)
c.100766A= (p.Lys33589=)
c.100763A= (p.Lys33588=)
c.100196A= (p.Lys33399=)
c.97538A= (p.Lys32513=)
c.97457A= (p.Lys32486=)
c.79220A= (p.Lys26407=)
c.69074A= (p.Lys23025=)
2g.178530291T>ACA349406092TTN,TTN-AS1c.98620A>T (p.Lys32874Ter)
c.79705A>T (p.Lys26569Ter)
c.79504A>T (p.Lys26502Ter)
c.79129A>T (p.Lys26377Ter)
c.106324A>T (p.Lys35442Ter)
c.101401A>T (p.Lys33801Ter)
n.446+6655T>A
n.220-5441T>A
c.105421A>T (p.Lys35141Ter)
c.79315A>T (p.Lys26439Ter)
c.79174A>T (p.Lys26392Ter)
c.105217A>T (p.Lys35073Ter)
c.100615A>T (p.Lys33539Ter)
c.100612A>T (p.Lys33538Ter)
c.97654A>T (p.Lys32552Ter)
c.79270A>T (p.Lys26424Ter)
c.100765A>T (p.Lys33589Ter)
c.100762A>T (p.Lys33588Ter)
c.100195A>T (p.Lys33399Ter)
c.97537A>T (p.Lys32513Ter)
c.97456A>T (p.Lys32486Ter)
c.79219A>T (p.Lys26407Ter)
c.69073A>T (p.Lys23025Ter)
2g.178530291T>CCA349406095TTN,TTN-AS1c.98620A>G (p.Lys32874Glu)
c.79705A>G (p.Lys26569Glu)
c.79504A>G (p.Lys26502Glu)
c.79129A>G (p.Lys26377Glu)
c.106324A>G (p.Lys35442Glu)
c.101401A>G (p.Lys33801Glu)
n.446+6655T>C
n.220-5441T>C
c.105421A>G (p.Lys35141Glu)
c.79315A>G (p.Lys26439Glu)
c.79174A>G (p.Lys26392Glu)
c.105217A>G (p.Lys35073Glu)
c.100615A>G (p.Lys33539Glu)
c.100612A>G (p.Lys33538Glu)
c.97654A>G (p.Lys32552Glu)
c.79270A>G (p.Lys26424Glu)
c.100765A>G (p.Lys33589Glu)
c.100762A>G (p.Lys33588Glu)
c.100195A>G (p.Lys33399Glu)
c.97537A>G (p.Lys32513Glu)
c.97456A>G (p.Lys32486Glu)
c.79219A>G (p.Lys26407Glu)
c.69073A>G (p.Lys23025Glu)
 gnomAD v4
2g.178530291T>GCA349406097TTN,TTN-AS1c.98620A>C (p.Lys32874Gln)
c.79705A>C (p.Lys26569Gln)
c.79504A>C (p.Lys26502Gln)
c.79129A>C (p.Lys26377Gln)
c.106324A>C (p.Lys35442Gln)
c.101401A>C (p.Lys33801Gln)
n.446+6655T>G
n.220-5441T>G
c.105421A>C (p.Lys35141Gln)
c.79315A>C (p.Lys26439Gln)
c.79174A>C (p.Lys26392Gln)
c.105217A>C (p.Lys35073Gln)
c.100615A>C (p.Lys33539Gln)
c.100612A>C (p.Lys33538Gln)
c.97654A>C (p.Lys32552Gln)
c.79270A>C (p.Lys26424Gln)
c.100765A>C (p.Lys33589Gln)
c.100762A>C (p.Lys33588Gln)
c.100195A>C (p.Lys33399Gln)
c.97537A>C (p.Lys32513Gln)
c.97456A>C (p.Lys32486Gln)
c.79219A>C (p.Lys26407Gln)
c.69073A>C (p.Lys23025Gln)
2g.178530292A>CCA430235081TTN,TTN-AS1c.98619T>G (p.Val32873=)
c.79704T>G (p.Val26568=)
c.79503T>G (p.Val26501=)
c.79128T>G (p.Val26376=)
c.106323T>G (p.Val35441=)
c.101400T>G (p.Val33800=)
n.446+6656A>C
n.220-5440A>C
c.105420T>G (p.Val35140=)
c.79314T>G (p.Val26438=)
c.79173T>G (p.Val26391=)
c.105216T>G (p.Val35072=)
c.100614T>G (p.Val33538=)
c.100611T>G (p.Val33537=)
c.97653T>G (p.Val32551=)
c.79269T>G (p.Val26423=)
c.100764T>G (p.Val33588=)
c.100761T>G (p.Val33587=)
c.100194T>G (p.Val33398=)
c.97536T>G (p.Val32512=)
c.97455T>G (p.Val32485=)
c.79218T>G (p.Val26406=)
c.69072T>G (p.Val23024=)
2g.178530292A>GCA430235082TTN,TTN-AS1c.98619T>C (p.Val32873=)
c.79704T>C (p.Val26568=)
c.79503T>C (p.Val26501=)
c.79128T>C (p.Val26376=)
c.106323T>C (p.Val35441=)
c.101400T>C (p.Val33800=)
n.446+6656A>G
n.220-5440A>G
c.105420T>C (p.Val35140=)
c.79314T>C (p.Val26438=)
c.79173T>C (p.Val26391=)
c.105216T>C (p.Val35072=)
c.100614T>C (p.Val33538=)
c.100611T>C (p.Val33537=)
c.97653T>C (p.Val32551=)
c.79269T>C (p.Val26423=)
c.100764T>C (p.Val33588=)
c.100761T>C (p.Val33587=)
c.100194T>C (p.Val33398=)
c.97536T>C (p.Val32512=)
c.97455T>C (p.Val32485=)
c.79218T>C (p.Val26406=)
c.69072T>C (p.Val23024=)
 gnomAD v4
2g.178530292A>TCA430235083TTN,TTN-AS1c.98619T>A (p.Val32873=)
c.79704T>A (p.Val26568=)
c.79503T>A (p.Val26501=)
c.79128T>A (p.Val26376=)
c.106323T>A (p.Val35441=)
c.101400T>A (p.Val33800=)
n.446+6656A>T
n.220-5440A>T
c.105420T>A (p.Val35140=)
c.79314T>A (p.Val26438=)
c.79173T>A (p.Val26391=)
c.105216T>A (p.Val35072=)
c.100614T>A (p.Val33538=)
c.100611T>A (p.Val33537=)
c.97653T>A (p.Val32551=)
c.79269T>A (p.Val26423=)
c.100764T>A (p.Val33588=)
c.100761T>A (p.Val33587=)
c.100194T>A (p.Val33398=)
c.97536T>A (p.Val32512=)
c.97455T>A (p.Val32485=)
c.79218T>A (p.Val26406=)
c.69072T>A (p.Val23024=)
2g.178530293A>CCA349406098TTN,TTN-AS1c.98618T>G (p.Val32873Gly)
c.79703T>G (p.Val26568Gly)
c.79502T>G (p.Val26501Gly)
c.79127T>G (p.Val26376Gly)
c.106322T>G (p.Val35441Gly)
c.101399T>G (p.Val33800Gly)
n.446+6657A>C
n.220-5439A>C
c.105419T>G (p.Val35140Gly)
c.79313T>G (p.Val26438Gly)
c.79172T>G (p.Val26391Gly)
c.105215T>G (p.Val35072Gly)
c.100613T>G (p.Val33538Gly)
c.100610T>G (p.Val33537Gly)
c.97652T>G (p.Val32551Gly)
c.79268T>G (p.Val26423Gly)
c.100763T>G (p.Val33588Gly)
c.100760T>G (p.Val33587Gly)
c.100193T>G (p.Val33398Gly)
c.97535T>G (p.Val32512Gly)
c.97454T>G (p.Val32485Gly)
c.79217T>G (p.Val26406Gly)
c.69071T>G (p.Val23024Gly)
2g.178530293A>GCA349406101TTN,TTN-AS1c.98618T>C (p.Val32873Ala)
c.79703T>C (p.Val26568Ala)
c.79502T>C (p.Val26501Ala)
c.79127T>C (p.Val26376Ala)
c.106322T>C (p.Val35441Ala)
c.101399T>C (p.Val33800Ala)
n.446+6657A>G
n.220-5439A>G
c.105419T>C (p.Val35140Ala)
c.79313T>C (p.Val26438Ala)
c.79172T>C (p.Val26391Ala)
c.105215T>C (p.Val35072Ala)
c.100613T>C (p.Val33538Ala)
c.100610T>C (p.Val33537Ala)
c.97652T>C (p.Val32551Ala)
c.79268T>C (p.Val26423Ala)
c.100763T>C (p.Val33588Ala)
c.100760T>C (p.Val33587Ala)
c.100193T>C (p.Val33398Ala)
c.97535T>C (p.Val32512Ala)
c.97454T>C (p.Val32485Ala)
c.79217T>C (p.Val26406Ala)
c.69071T>C (p.Val23024Ala)
2g.178530293A>TCA349406102TTN,TTN-AS1c.98618T>A (p.Val32873Asp)
c.79703T>A (p.Val26568Asp)
c.79502T>A (p.Val26501Asp)
c.79127T>A (p.Val26376Asp)
c.106322T>A (p.Val35441Asp)
c.101399T>A (p.Val33800Asp)
n.446+6657A>T
n.220-5439A>T
c.105419T>A (p.Val35140Asp)
c.79313T>A (p.Val26438Asp)
c.79172T>A (p.Val26391Asp)
c.105215T>A (p.Val35072Asp)
c.100613T>A (p.Val33538Asp)
c.100610T>A (p.Val33537Asp)
c.97652T>A (p.Val32551Asp)
c.79268T>A (p.Val26423Asp)
c.100763T>A (p.Val33588Asp)
c.100760T>A (p.Val33587Asp)
c.100193T>A (p.Val33398Asp)
c.97535T>A (p.Val32512Asp)
c.97454T>A (p.Val32485Asp)
c.79217T>A (p.Val26406Asp)
c.69071T>A (p.Val23024Asp)
2g.178530294C>ACA349406109TTN,TTN-AS1c.98617G>T (p.Val32873Phe)
c.79702G>T (p.Val26568Phe)
c.79501G>T (p.Val26501Phe)
c.79126G>T (p.Val26376Phe)
c.106321G>T (p.Val35441Phe)
c.101398G>T (p.Val33800Phe)
n.446+6658C>A
n.220-5438C>A
c.105418G>T (p.Val35140Phe)
c.79312G>T (p.Val26438Phe)
c.79171G>T (p.Val26391Phe)
c.105214G>T (p.Val35072Phe)
c.100612G>T (p.Val33538Phe)
c.100609G>T (p.Val33537Phe)
c.97651G>T (p.Val32551Phe)
c.79267G>T (p.Val26423Phe)
c.100762G>T (p.Val33588Phe)
c.100759G>T (p.Val33587Phe)
c.100192G>T (p.Val33398Phe)
c.97534G>T (p.Val32512Phe)
c.97453G>T (p.Val32485Phe)
c.79216G>T (p.Val26406Phe)
c.69070G>T (p.Val23024Phe)
 gnomAD v4
2g.178530294C>GCA349406110TTN,TTN-AS1c.98617G>C (p.Val32873Leu)
c.79702G>C (p.Val26568Leu)
c.79501G>C (p.Val26501Leu)
c.79126G>C (p.Val26376Leu)
c.106321G>C (p.Val35441Leu)
c.101398G>C (p.Val33800Leu)
n.446+6658C>G
n.220-5438C>G
c.105418G>C (p.Val35140Leu)
c.79312G>C (p.Val26438Leu)
c.79171G>C (p.Val26391Leu)
c.105214G>C (p.Val35072Leu)
c.100612G>C (p.Val33538Leu)
c.100609G>C (p.Val33537Leu)
c.97651G>C (p.Val32551Leu)
c.79267G>C (p.Val26423Leu)
c.100762G>C (p.Val33588Leu)
c.100759G>C (p.Val33587Leu)
c.100192G>C (p.Val33398Leu)
c.97534G>C (p.Val32512Leu)
c.97453G>C (p.Val32485Leu)
c.79216G>C (p.Val26406Leu)
c.69070G>C (p.Val23024Leu)
2g.178530294C>TCA349406106TTN,TTN-AS1c.98617G>A (p.Val32873Ile)
c.79702G>A (p.Val26568Ile)
c.79501G>A (p.Val26501Ile)
c.79126G>A (p.Val26376Ile)
c.106321G>A (p.Val35441Ile)
c.101398G>A (p.Val33800Ile)
n.446+6658C>T
n.220-5438C>T
c.105418G>A (p.Val35140Ile)
c.79312G>A (p.Val26438Ile)
c.79171G>A (p.Val26391Ile)
c.105214G>A (p.Val35072Ile)
c.100612G>A (p.Val33538Ile)
c.100609G>A (p.Val33537Ile)
c.97651G>A (p.Val32551Ile)
c.79267G>A (p.Val26423Ile)
c.100762G>A (p.Val33588Ile)
c.100759G>A (p.Val33587Ile)
c.100192G>A (p.Val33398Ile)
c.97534G>A (p.Val32512Ile)
c.97453G>A (p.Val32485Ile)
c.79216G>A (p.Val26406Ile)
c.69070G>A (p.Val23024Ile)
 dbSNP
2g.178530295T>ACA430235086TTN,TTN-AS1c.98616A>T (p.Ala32872=)
c.79701A>T (p.Ala26567=)
c.79500A>T (p.Ala26500=)
c.79125A>T (p.Ala26375=)
c.106320A>T (p.Ala35440=)
c.101397A>T (p.Ala33799=)
n.446+6659T>A
n.220-5437T>A
c.105417A>T (p.Ala35139=)
c.79311A>T (p.Ala26437=)
c.79170A>T (p.Ala26390=)
c.105213A>T (p.Ala35071=)
c.100611A>T (p.Ala33537=)
c.100608A>T (p.Ala33536=)
c.97650A>T (p.Ala32550=)
c.79266A>T (p.Ala26422=)
c.100761A>T (p.Ala33587=)
c.100758A>T (p.Ala33586=)
c.100191A>T (p.Ala33397=)
c.97533A>T (p.Ala32511=)
c.97452A>T (p.Ala32484=)
c.79215A>T (p.Ala26405=)
c.69069A>T (p.Ala23023=)
2g.178530295T>CCA430235087TTN,TTN-AS1c.98616A>G (p.Ala32872=)
c.79701A>G (p.Ala26567=)
c.79500A>G (p.Ala26500=)
c.79125A>G (p.Ala26375=)
c.106320A>G (p.Ala35440=)
c.101397A>G (p.Ala33799=)
n.446+6659T>C
n.220-5437T>C
c.105417A>G (p.Ala35139=)
c.79311A>G (p.Ala26437=)
c.79170A>G (p.Ala26390=)
c.105213A>G (p.Ala35071=)
c.100611A>G (p.Ala33537=)
c.100608A>G (p.Ala33536=)
c.97650A>G (p.Ala32550=)
c.79266A>G (p.Ala26422=)
c.100761A>G (p.Ala33587=)
c.100758A>G (p.Ala33586=)
c.100191A>G (p.Ala33397=)
c.97533A>G (p.Ala32511=)
c.97452A>G (p.Ala32484=)
c.79215A>G (p.Ala26405=)
c.69069A>G (p.Ala23023=)
2g.178530295T>GCA430235088TTN,TTN-AS1c.98616A>C (p.Ala32872=)
c.79701A>C (p.Ala26567=)
c.79500A>C (p.Ala26500=)
c.79125A>C (p.Ala26375=)
c.106320A>C (p.Ala35440=)
c.101397A>C (p.Ala33799=)
n.446+6659T>G
n.220-5437T>G
c.105417A>C (p.Ala35139=)
c.79311A>C (p.Ala26437=)
c.79170A>C (p.Ala26390=)
c.105213A>C (p.Ala35071=)
c.100611A>C (p.Ala33537=)
c.100608A>C (p.Ala33536=)
c.97650A>C (p.Ala32550=)
c.79266A>C (p.Ala26422=)
c.100761A>C (p.Ala33587=)
c.100758A>C (p.Ala33586=)
c.100191A>C (p.Ala33397=)
c.97533A>C (p.Ala32511=)
c.97452A>C (p.Ala32484=)
c.79215A>C (p.Ala26405=)
c.69069A>C (p.Ala23023=)
2g.178530296G>ACA1985128TTN,TTN-AS1c.98615C>T (p.Ala32872Val)
c.79700C>T (p.Ala26567Val)
c.79499C>T (p.Ala26500Val)
c.79124C>T (p.Ala26375Val)
c.106319C>T (p.Ala35440Val)
c.101396C>T (p.Ala33799Val)
n.446+6660G>A
n.220-5436G>A
c.105416C>T (p.Ala35139Val)
c.79310C>T (p.Ala26437Val)
c.79169C>T (p.Ala26390Val)
c.105212C>T (p.Ala35071Val)
c.100610C>T (p.Ala33537Val)
c.100607C>T (p.Ala33536Val)
c.97649C>T (p.Ala32550Val)
c.79265C>T (p.Ala26422Val)
c.100760C>T (p.Ala33587Val)
c.100757C>T (p.Ala33586Val)
c.100190C>T (p.Ala33397Val)
c.97532C>T (p.Ala32511Val)
c.97451C>T (p.Ala32484Val)
c.79214C>T (p.Ala26405Val)
c.69068C>T (p.Ala23023Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530296G>CCA349406117TTN,TTN-AS1c.98615C>G (p.Ala32872Gly)
c.79700C>G (p.Ala26567Gly)
c.79499C>G (p.Ala26500Gly)
c.79124C>G (p.Ala26375Gly)
c.106319C>G (p.Ala35440Gly)
c.101396C>G (p.Ala33799Gly)
n.446+6660G>C
n.220-5436G>C
c.105416C>G (p.Ala35139Gly)
c.79310C>G (p.Ala26437Gly)
c.79169C>G (p.Ala26390Gly)
c.105212C>G (p.Ala35071Gly)
c.100610C>G (p.Ala33537Gly)
c.100607C>G (p.Ala33536Gly)
c.97649C>G (p.Ala32550Gly)
c.79265C>G (p.Ala26422Gly)
c.100760C>G (p.Ala33587Gly)
c.100757C>G (p.Ala33586Gly)
c.100190C>G (p.Ala33397Gly)
c.97532C>G (p.Ala32511Gly)
c.97451C>G (p.Ala32484Gly)
c.79214C>G (p.Ala26405Gly)
c.69068C>G (p.Ala23023Gly)
2g.178530296G=CA1310511734TTN,TTN-AS1c.98615C= (p.Ala32872=)
c.79700C= (p.Ala26567=)
c.79499C= (p.Ala26500=)
c.79124C= (p.Ala26375=)
c.106319C= (p.Ala35440=)
c.101396C= (p.Ala33799=)
n.446+6660G=
n.220-5436G=
c.105416C= (p.Ala35139=)
c.79310C= (p.Ala26437=)
c.79169C= (p.Ala26390=)
c.105212C= (p.Ala35071=)
c.100610C= (p.Ala33537=)
c.100607C= (p.Ala33536=)
c.97649C= (p.Ala32550=)
c.79265C= (p.Ala26422=)
c.100760C= (p.Ala33587=)
c.100757C= (p.Ala33586=)
c.100190C= (p.Ala33397=)
c.97532C= (p.Ala32511=)
c.97451C= (p.Ala32484=)
c.79214C= (p.Ala26405=)
c.69068C= (p.Ala23023=)
2g.178530296G>TCA349406121TTN,TTN-AS1c.98615C>A (p.Ala32872Glu)
c.79700C>A (p.Ala26567Glu)
c.79499C>A (p.Ala26500Glu)
c.79124C>A (p.Ala26375Glu)
c.106319C>A (p.Ala35440Glu)
c.101396C>A (p.Ala33799Glu)
n.446+6660G>T
n.220-5436G>T
c.105416C>A (p.Ala35139Glu)
c.79310C>A (p.Ala26437Glu)
c.79169C>A (p.Ala26390Glu)
c.105212C>A (p.Ala35071Glu)
c.100610C>A (p.Ala33537Glu)
c.100607C>A (p.Ala33536Glu)
c.97649C>A (p.Ala32550Glu)
c.79265C>A (p.Ala26422Glu)
c.100760C>A (p.Ala33587Glu)
c.100757C>A (p.Ala33586Glu)
c.100190C>A (p.Ala33397Glu)
c.97532C>A (p.Ala32511Glu)
c.97451C>A (p.Ala32484Glu)
c.79214C>A (p.Ala26405Glu)
c.69068C>A (p.Ala23023Glu)
2g.178530297delCA2662125628TTN,TTN-AS1c.98614del (p.Ala32872GlnfsTer?)
c.79699del (p.Ala26567GlnfsTer?)
c.79498del (p.Ala26500GlnfsTer?)
c.79123del (p.Ala26375GlnfsTer?)
c.106318del (p.Ala35440GlnfsTer?)
c.101395del (p.Ala33799GlnfsTer?)
n.446+6661del
n.220-5435del
c.105415del (p.Ala35139GlnfsTer?)
c.79309del (p.Ala26437GlnfsTer?)
c.79168del (p.Ala26390GlnfsTer?)
c.105211del (p.Ala35071GlnfsTer?)
c.100609del (p.Ala33537GlnfsTer?)
c.100606del (p.Ala33536GlnfsTer?)
c.97648del (p.Ala32550GlnfsTer?)
c.79264del (p.Ala26422GlnfsTer?)
c.100759del (p.Ala33587GlnfsTer?)
c.100756del (p.Ala33586GlnfsTer?)
c.100189del (p.Ala33397GlnfsTer?)
c.97531del (p.Ala32511GlnfsTer?)
c.97450del (p.Ala32484GlnfsTer?)
c.79213del (p.Ala26405GlnfsTer?)
c.69067del (p.Ala23023GlnfsTer?)
 gnomAD v4
2g.178530297C>ACA349406124TTN,TTN-AS1c.98614G>T (p.Ala32872Ser)
c.79699G>T (p.Ala26567Ser)
c.79498G>T (p.Ala26500Ser)
c.79123G>T (p.Ala26375Ser)
c.106318G>T (p.Ala35440Ser)
c.101395G>T (p.Ala33799Ser)
n.446+6661C>A
n.220-5435C>A
c.105415G>T (p.Ala35139Ser)
c.79309G>T (p.Ala26437Ser)
c.79168G>T (p.Ala26390Ser)
c.105211G>T (p.Ala35071Ser)
c.100609G>T (p.Ala33537Ser)
c.100606G>T (p.Ala33536Ser)
c.97648G>T (p.Ala32550Ser)
c.79264G>T (p.Ala26422Ser)
c.100759G>T (p.Ala33587Ser)
c.100756G>T (p.Ala33586Ser)
c.100189G>T (p.Ala33397Ser)
c.97531G>T (p.Ala32511Ser)
c.97450G>T (p.Ala32484Ser)
c.79213G>T (p.Ala26405Ser)
c.69067G>T (p.Ala23023Ser)
 gnomAD v4
2g.178530297C>GCA349406126TTN,TTN-AS1c.98614G>C (p.Ala32872Pro)
c.79699G>C (p.Ala26567Pro)
c.79498G>C (p.Ala26500Pro)
c.79123G>C (p.Ala26375Pro)
c.106318G>C (p.Ala35440Pro)
c.101395G>C (p.Ala33799Pro)
n.446+6661C>G
n.220-5435C>G
c.105415G>C (p.Ala35139Pro)
c.79309G>C (p.Ala26437Pro)
c.79168G>C (p.Ala26390Pro)
c.105211G>C (p.Ala35071Pro)
c.100609G>C (p.Ala33537Pro)
c.100606G>C (p.Ala33536Pro)
c.97648G>C (p.Ala32550Pro)
c.79264G>C (p.Ala26422Pro)
c.100759G>C (p.Ala33587Pro)
c.100756G>C (p.Ala33586Pro)
c.100189G>C (p.Ala33397Pro)
c.97531G>C (p.Ala32511Pro)
c.97450G>C (p.Ala32484Pro)
c.79213G>C (p.Ala26405Pro)
c.69067G>C (p.Ala23023Pro)
2g.178530297C>TCA349406130TTN,TTN-AS1c.98614G>A (p.Ala32872Thr)
c.79699G>A (p.Ala26567Thr)
c.79498G>A (p.Ala26500Thr)
c.79123G>A (p.Ala26375Thr)
c.106318G>A (p.Ala35440Thr)
c.101395G>A (p.Ala33799Thr)
n.446+6661C>T
n.220-5435C>T
c.105415G>A (p.Ala35139Thr)
c.79309G>A (p.Ala26437Thr)
c.79168G>A (p.Ala26390Thr)
c.105211G>A (p.Ala35071Thr)
c.100609G>A (p.Ala33537Thr)
c.100606G>A (p.Ala33536Thr)
c.97648G>A (p.Ala32550Thr)
c.79264G>A (p.Ala26422Thr)
c.100759G>A (p.Ala33587Thr)
c.100756G>A (p.Ala33586Thr)
c.100189G>A (p.Ala33397Thr)
c.97531G>A (p.Ala32511Thr)
c.97450G>A (p.Ala32484Thr)
c.79213G>A (p.Ala26405Thr)
c.69067G>A (p.Ala23023Thr)
2g.178530298A>CCA349406133TTN,TTN-AS1c.98613T>G (p.Phe32871Leu)
c.79698T>G (p.Phe26566Leu)
c.79497T>G (p.Phe26499Leu)
c.79122T>G (p.Phe26374Leu)
c.106317T>G (p.Phe35439Leu)
c.101394T>G (p.Phe33798Leu)
n.446+6662A>C
n.220-5434A>C
c.105414T>G (p.Phe35138Leu)
c.79308T>G (p.Phe26436Leu)
c.79167T>G (p.Phe26389Leu)
c.105210T>G (p.Phe35070Leu)
c.100608T>G (p.Phe33536Leu)
c.100605T>G (p.Phe33535Leu)
c.97647T>G (p.Phe32549Leu)
c.79263T>G (p.Phe26421Leu)
c.100758T>G (p.Phe33586Leu)
c.100755T>G (p.Phe33585Leu)
c.100188T>G (p.Phe33396Leu)
c.97530T>G (p.Phe32510Leu)
c.97449T>G (p.Phe32483Leu)
c.79212T>G (p.Phe26404Leu)
c.69066T>G (p.Phe23022Leu)
 gnomAD v4
2g.178530298A>GCA430235091TTN,TTN-AS1c.98613T>C (p.Phe32871=)
c.79698T>C (p.Phe26566=)
c.79497T>C (p.Phe26499=)
c.79122T>C (p.Phe26374=)
c.106317T>C (p.Phe35439=)
c.101394T>C (p.Phe33798=)
n.446+6662A>G
n.220-5434A>G
c.105414T>C (p.Phe35138=)
c.79308T>C (p.Phe26436=)
c.79167T>C (p.Phe26389=)
c.105210T>C (p.Phe35070=)
c.100608T>C (p.Phe33536=)
c.100605T>C (p.Phe33535=)
c.97647T>C (p.Phe32549=)
c.79263T>C (p.Phe26421=)
c.100758T>C (p.Phe33586=)
c.100755T>C (p.Phe33585=)
c.100188T>C (p.Phe33396=)
c.97530T>C (p.Phe32510=)
c.97449T>C (p.Phe32483=)
c.79212T>C (p.Phe26404=)
c.69066T>C (p.Phe23022=)
2g.178530298A>TCA349406135TTN,TTN-AS1c.98613T>A (p.Phe32871Leu)
c.79698T>A (p.Phe26566Leu)
c.79497T>A (p.Phe26499Leu)
c.79122T>A (p.Phe26374Leu)
c.106317T>A (p.Phe35439Leu)
c.101394T>A (p.Phe33798Leu)
n.446+6662A>T
n.220-5434A>T
c.105414T>A (p.Phe35138Leu)
c.79308T>A (p.Phe26436Leu)
c.79167T>A (p.Phe26389Leu)
c.105210T>A (p.Phe35070Leu)
c.100608T>A (p.Phe33536Leu)
c.100605T>A (p.Phe33535Leu)
c.97647T>A (p.Phe32549Leu)
c.79263T>A (p.Phe26421Leu)
c.100758T>A (p.Phe33586Leu)
c.100755T>A (p.Phe33585Leu)
c.100188T>A (p.Phe33396Leu)
c.97530T>A (p.Phe32510Leu)
c.97449T>A (p.Phe32483Leu)
c.79212T>A (p.Phe26404Leu)
c.69066T>A (p.Phe23022Leu)
2g.178530299A=CA1310511738TTN,TTN-AS1c.98612T= (p.Phe32871=)
c.79697T= (p.Phe26566=)
c.79496T= (p.Phe26499=)
c.79121T= (p.Phe26374=)
c.106316T= (p.Phe35439=)
c.101393T= (p.Phe33798=)
n.446+6663A=
n.220-5433A=
c.105413T= (p.Phe35138=)
c.79307T= (p.Phe26436=)
c.79166T= (p.Phe26389=)
c.105209T= (p.Phe35070=)
c.100607T= (p.Phe33536=)
c.100604T= (p.Phe33535=)
c.97646T= (p.Phe32549=)
c.79262T= (p.Phe26421=)
c.100757T= (p.Phe33586=)
c.100754T= (p.Phe33585=)
c.100187T= (p.Phe33396=)
c.97529T= (p.Phe32510=)
c.97448T= (p.Phe32483=)
c.79211T= (p.Phe26404=)
c.69065T= (p.Phe23022=)
2g.178530299A>CCA60953272TTN,TTN-AS1c.98612T>G (p.Phe32871Cys)
c.79697T>G (p.Phe26566Cys)
c.79496T>G (p.Phe26499Cys)
c.79121T>G (p.Phe26374Cys)
c.106316T>G (p.Phe35439Cys)
c.101393T>G (p.Phe33798Cys)
n.446+6663A>C
n.220-5433A>C
c.105413T>G (p.Phe35138Cys)
c.79307T>G (p.Phe26436Cys)
c.79166T>G (p.Phe26389Cys)
c.105209T>G (p.Phe35070Cys)
c.100607T>G (p.Phe33536Cys)
c.100604T>G (p.Phe33535Cys)
c.97646T>G (p.Phe32549Cys)
c.79262T>G (p.Phe26421Cys)
c.100757T>G (p.Phe33586Cys)
c.100754T>G (p.Phe33585Cys)
c.100187T>G (p.Phe33396Cys)
c.97529T>G (p.Phe32510Cys)
c.97448T>G (p.Phe32483Cys)
c.79211T>G (p.Phe26404Cys)
c.69065T>G (p.Phe23022Cys)
 dbSNP
2g.178530299A>GCA349406139TTN,TTN-AS1c.98612T>C (p.Phe32871Ser)
c.79697T>C (p.Phe26566Ser)
c.79496T>C (p.Phe26499Ser)
c.79121T>C (p.Phe26374Ser)
c.106316T>C (p.Phe35439Ser)
c.101393T>C (p.Phe33798Ser)
n.446+6663A>G
n.220-5433A>G
c.105413T>C (p.Phe35138Ser)
c.79307T>C (p.Phe26436Ser)
c.79166T>C (p.Phe26389Ser)
c.105209T>C (p.Phe35070Ser)
c.100607T>C (p.Phe33536Ser)
c.100604T>C (p.Phe33535Ser)
c.97646T>C (p.Phe32549Ser)
c.79262T>C (p.Phe26421Ser)
c.100757T>C (p.Phe33586Ser)
c.100754T>C (p.Phe33585Ser)
c.100187T>C (p.Phe33396Ser)
c.97529T>C (p.Phe32510Ser)
c.97448T>C (p.Phe32483Ser)
c.79211T>C (p.Phe26404Ser)
c.69065T>C (p.Phe23022Ser)
 gnomAD v4
2g.178530299A>TCA349406142TTN,TTN-AS1c.98612T>A (p.Phe32871Tyr)
c.79697T>A (p.Phe26566Tyr)
c.79496T>A (p.Phe26499Tyr)
c.79121T>A (p.Phe26374Tyr)
c.106316T>A (p.Phe35439Tyr)
c.101393T>A (p.Phe33798Tyr)
n.446+6663A>T
n.220-5433A>T
c.105413T>A (p.Phe35138Tyr)
c.79307T>A (p.Phe26436Tyr)
c.79166T>A (p.Phe26389Tyr)
c.105209T>A (p.Phe35070Tyr)
c.100607T>A (p.Phe33536Tyr)
c.100604T>A (p.Phe33535Tyr)
c.97646T>A (p.Phe32549Tyr)
c.79262T>A (p.Phe26421Tyr)
c.100757T>A (p.Phe33586Tyr)
c.100754T>A (p.Phe33585Tyr)
c.100187T>A (p.Phe33396Tyr)
c.97529T>A (p.Phe32510Tyr)
c.97448T>A (p.Phe32483Tyr)
c.79211T>A (p.Phe26404Tyr)
c.69065T>A (p.Phe23022Tyr)
2g.178530300A>CCA349406148TTN,TTN-AS1c.98611T>G (p.Phe32871Val)
c.79696T>G (p.Phe26566Val)
c.79495T>G (p.Phe26499Val)
c.79120T>G (p.Phe26374Val)
c.106315T>G (p.Phe35439Val)
c.101392T>G (p.Phe33798Val)
n.446+6664A>C
n.220-5432A>C
c.105412T>G (p.Phe35138Val)
c.79306T>G (p.Phe26436Val)
c.79165T>G (p.Phe26389Val)
c.105208T>G (p.Phe35070Val)
c.100606T>G (p.Phe33536Val)
c.100603T>G (p.Phe33535Val)
c.97645T>G (p.Phe32549Val)
c.79261T>G (p.Phe26421Val)
c.100756T>G (p.Phe33586Val)
c.100753T>G (p.Phe33585Val)
c.100186T>G (p.Phe33396Val)
c.97528T>G (p.Phe32510Val)
c.97447T>G (p.Phe32483Val)
c.79210T>G (p.Phe26404Val)
c.69064T>G (p.Phe23022Val)
2g.178530300A>GCA349406150TTN,TTN-AS1c.98611T>C (p.Phe32871Leu)
c.79696T>C (p.Phe26566Leu)
c.79495T>C (p.Phe26499Leu)
c.79120T>C (p.Phe26374Leu)
c.106315T>C (p.Phe35439Leu)
c.101392T>C (p.Phe33798Leu)
n.446+6664A>G
n.220-5432A>G
c.105412T>C (p.Phe35138Leu)
c.79306T>C (p.Phe26436Leu)
c.79165T>C (p.Phe26389Leu)
c.105208T>C (p.Phe35070Leu)
c.100606T>C (p.Phe33536Leu)
c.100603T>C (p.Phe33535Leu)
c.97645T>C (p.Phe32549Leu)
c.79261T>C (p.Phe26421Leu)
c.100756T>C (p.Phe33586Leu)
c.100753T>C (p.Phe33585Leu)
c.100186T>C (p.Phe33396Leu)
c.97528T>C (p.Phe32510Leu)
c.97447T>C (p.Phe32483Leu)
c.79210T>C (p.Phe26404Leu)
c.69064T>C (p.Phe23022Leu)
2g.178530300A>TCA349406145TTN,TTN-AS1c.98611T>A (p.Phe32871Ile)
c.79696T>A (p.Phe26566Ile)
c.79495T>A (p.Phe26499Ile)
c.79120T>A (p.Phe26374Ile)
c.106315T>A (p.Phe35439Ile)
c.101392T>A (p.Phe33798Ile)
n.446+6664A>T
n.220-5432A>T
c.105412T>A (p.Phe35138Ile)
c.79306T>A (p.Phe26436Ile)
c.79165T>A (p.Phe26389Ile)
c.105208T>A (p.Phe35070Ile)
c.100606T>A (p.Phe33536Ile)
c.100603T>A (p.Phe33535Ile)
c.97645T>A (p.Phe32549Ile)
c.79261T>A (p.Phe26421Ile)
c.100756T>A (p.Phe33586Ile)
c.100753T>A (p.Phe33585Ile)
c.100186T>A (p.Phe33396Ile)
c.97528T>A (p.Phe32510Ile)
c.97447T>A (p.Phe32483Ile)
c.79210T>A (p.Phe26404Ile)
c.69064T>A (p.Phe23022Ile)
2g.178530301T>ACA349406153TTN,TTN-AS1c.98610A>T (p.Lys32870Asn)
c.79695A>T (p.Lys26565Asn)
c.79494A>T (p.Lys26498Asn)
c.79119A>T (p.Lys26373Asn)
c.106314A>T (p.Lys35438Asn)
c.101391A>T (p.Lys33797Asn)
n.446+6665T>A
n.220-5431T>A
c.105411A>T (p.Lys35137Asn)
c.79305A>T (p.Lys26435Asn)
c.79164A>T (p.Lys26388Asn)
c.105207A>T (p.Lys35069Asn)
c.100605A>T (p.Lys33535Asn)
c.100602A>T (p.Lys33534Asn)
c.97644A>T (p.Lys32548Asn)
c.79260A>T (p.Lys26420Asn)
c.100755A>T (p.Lys33585Asn)
c.100752A>T (p.Lys33584Asn)
c.100185A>T (p.Lys33395Asn)
c.97527A>T (p.Lys32509Asn)
c.97446A>T (p.Lys32482Asn)
c.79209A>T (p.Lys26403Asn)
c.69063A>T (p.Lys23021Asn)
2g.178530301T>CCA430235094TTN,TTN-AS1c.98610A>G (p.Lys32870=)
c.79695A>G (p.Lys26565=)
c.79494A>G (p.Lys26498=)
c.79119A>G (p.Lys26373=)
c.106314A>G (p.Lys35438=)
c.101391A>G (p.Lys33797=)
n.446+6665T>C
n.220-5431T>C
c.105411A>G (p.Lys35137=)
c.79305A>G (p.Lys26435=)
c.79164A>G (p.Lys26388=)
c.105207A>G (p.Lys35069=)
c.100605A>G (p.Lys33535=)
c.100602A>G (p.Lys33534=)
c.97644A>G (p.Lys32548=)
c.79260A>G (p.Lys26420=)
c.100755A>G (p.Lys33585=)
c.100752A>G (p.Lys33584=)
c.100185A>G (p.Lys33395=)
c.97527A>G (p.Lys32509=)
c.97446A>G (p.Lys32482=)
c.79209A>G (p.Lys26403=)
c.69063A>G (p.Lys23021=)
2g.178530301T>GCA349406156TTN,TTN-AS1c.98610A>C (p.Lys32870Asn)
c.79695A>C (p.Lys26565Asn)
c.79494A>C (p.Lys26498Asn)
c.79119A>C (p.Lys26373Asn)
c.106314A>C (p.Lys35438Asn)
c.101391A>C (p.Lys33797Asn)
n.446+6665T>G
n.220-5431T>G
c.105411A>C (p.Lys35137Asn)
c.79305A>C (p.Lys26435Asn)
c.79164A>C (p.Lys26388Asn)
c.105207A>C (p.Lys35069Asn)
c.100605A>C (p.Lys33535Asn)
c.100602A>C (p.Lys33534Asn)
c.97644A>C (p.Lys32548Asn)
c.79260A>C (p.Lys26420Asn)
c.100755A>C (p.Lys33585Asn)
c.100752A>C (p.Lys33584Asn)
c.100185A>C (p.Lys33395Asn)
c.97527A>C (p.Lys32509Asn)
c.97446A>C (p.Lys32482Asn)
c.79209A>C (p.Lys26403Asn)
c.69063A>C (p.Lys23021Asn)
2g.178530302T>ACA349406159TTN,TTN-AS1c.98609A>T (p.Lys32870Ile)
c.79694A>T (p.Lys26565Ile)
c.79493A>T (p.Lys26498Ile)
c.79118A>T (p.Lys26373Ile)
c.106313A>T (p.Lys35438Ile)
c.101390A>T (p.Lys33797Ile)
n.446+6666T>A
n.220-5430T>A
c.105410A>T (p.Lys35137Ile)
c.79304A>T (p.Lys26435Ile)
c.79163A>T (p.Lys26388Ile)
c.105206A>T (p.Lys35069Ile)
c.100604A>T (p.Lys33535Ile)
c.100601A>T (p.Lys33534Ile)
c.97643A>T (p.Lys32548Ile)
c.79259A>T (p.Lys26420Ile)
c.100754A>T (p.Lys33585Ile)
c.100751A>T (p.Lys33584Ile)
c.100184A>T (p.Lys33395Ile)
c.97526A>T (p.Lys32509Ile)
c.97445A>T (p.Lys32482Ile)
c.79208A>T (p.Lys26403Ile)
c.69062A>T (p.Lys23021Ile)
2g.178530302T>CCA349406162TTN,TTN-AS1c.98609A>G (p.Lys32870Arg)
c.79694A>G (p.Lys26565Arg)
c.79493A>G (p.Lys26498Arg)
c.79118A>G (p.Lys26373Arg)
c.106313A>G (p.Lys35438Arg)
c.101390A>G (p.Lys33797Arg)
n.446+6666T>C
n.220-5430T>C
c.105410A>G (p.Lys35137Arg)
c.79304A>G (p.Lys26435Arg)
c.79163A>G (p.Lys26388Arg)
c.105206A>G (p.Lys35069Arg)
c.100604A>G (p.Lys33535Arg)
c.100601A>G (p.Lys33534Arg)
c.97643A>G (p.Lys32548Arg)
c.79259A>G (p.Lys26420Arg)
c.100754A>G (p.Lys33585Arg)
c.100751A>G (p.Lys33584Arg)
c.100184A>G (p.Lys33395Arg)
c.97526A>G (p.Lys32509Arg)
c.97445A>G (p.Lys32482Arg)
c.79208A>G (p.Lys26403Arg)
c.69062A>G (p.Lys23021Arg)
2g.178530302T>GCA349406165TTN,TTN-AS1c.98609A>C (p.Lys32870Thr)
c.79694A>C (p.Lys26565Thr)
c.79493A>C (p.Lys26498Thr)
c.79118A>C (p.Lys26373Thr)
c.106313A>C (p.Lys35438Thr)
c.101390A>C (p.Lys33797Thr)
n.446+6666T>G
n.220-5430T>G
c.105410A>C (p.Lys35137Thr)
c.79304A>C (p.Lys26435Thr)
c.79163A>C (p.Lys26388Thr)
c.105206A>C (p.Lys35069Thr)
c.100604A>C (p.Lys33535Thr)
c.100601A>C (p.Lys33534Thr)
c.97643A>C (p.Lys32548Thr)
c.79259A>C (p.Lys26420Thr)
c.100754A>C (p.Lys33585Thr)
c.100751A>C (p.Lys33584Thr)
c.100184A>C (p.Lys33395Thr)
c.97526A>C (p.Lys32509Thr)
c.97445A>C (p.Lys32482Thr)
c.79208A>C (p.Lys26403Thr)
c.69062A>C (p.Lys23021Thr)
2g.178530303T>ACA349406171TTN,TTN-AS1c.98608A>T (p.Lys32870Ter)
c.79693A>T (p.Lys26565Ter)
c.79492A>T (p.Lys26498Ter)
c.79117A>T (p.Lys26373Ter)
c.106312A>T (p.Lys35438Ter)
c.101389A>T (p.Lys33797Ter)
n.446+6667T>A
n.220-5429T>A
c.105409A>T (p.Lys35137Ter)
c.79303A>T (p.Lys26435Ter)
c.79162A>T (p.Lys26388Ter)
c.105205A>T (p.Lys35069Ter)
c.100603A>T (p.Lys33535Ter)
c.100600A>T (p.Lys33534Ter)
c.97642A>T (p.Lys32548Ter)
c.79258A>T (p.Lys26420Ter)
c.100753A>T (p.Lys33585Ter)
c.100750A>T (p.Lys33584Ter)
c.100183A>T (p.Lys33395Ter)
c.97525A>T (p.Lys32509Ter)
c.97444A>T (p.Lys32482Ter)
c.79207A>T (p.Lys26403Ter)
c.69061A>T (p.Lys23021Ter)
2g.178530303T>CCA1985129TTN,TTN-AS1c.98608A>G (p.Lys32870Glu)
c.79693A>G (p.Lys26565Glu)
c.79492A>G (p.Lys26498Glu)
c.79117A>G (p.Lys26373Glu)
c.106312A>G (p.Lys35438Glu)
c.101389A>G (p.Lys33797Glu)
n.446+6667T>C
n.220-5429T>C
c.105409A>G (p.Lys35137Glu)
c.79303A>G (p.Lys26435Glu)
c.79162A>G (p.Lys26388Glu)
c.105205A>G (p.Lys35069Glu)
c.100603A>G (p.Lys33535Glu)
c.100600A>G (p.Lys33534Glu)
c.97642A>G (p.Lys32548Glu)
c.79258A>G (p.Lys26420Glu)
c.100753A>G (p.Lys33585Glu)
c.100750A>G (p.Lys33584Glu)
c.100183A>G (p.Lys33395Glu)
c.97525A>G (p.Lys32509Glu)
c.97444A>G (p.Lys32482Glu)
c.79207A>G (p.Lys26403Glu)
c.69061A>G (p.Lys23021Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530303T>GCA349406169TTN,TTN-AS1c.98608A>C (p.Lys32870Gln)
c.79693A>C (p.Lys26565Gln)
c.79492A>C (p.Lys26498Gln)
c.79117A>C (p.Lys26373Gln)
c.106312A>C (p.Lys35438Gln)
c.101389A>C (p.Lys33797Gln)
n.446+6667T>G
n.220-5429T>G
c.105409A>C (p.Lys35137Gln)
c.79303A>C (p.Lys26435Gln)
c.79162A>C (p.Lys26388Gln)
c.105205A>C (p.Lys35069Gln)
c.100603A>C (p.Lys33535Gln)
c.100600A>C (p.Lys33534Gln)
c.97642A>C (p.Lys32548Gln)
c.79258A>C (p.Lys26420Gln)
c.100753A>C (p.Lys33585Gln)
c.100750A>C (p.Lys33584Gln)
c.100183A>C (p.Lys33395Gln)
c.97525A>C (p.Lys32509Gln)
c.97444A>C (p.Lys32482Gln)
c.79207A>C (p.Lys26403Gln)
c.69061A>C (p.Lys23021Gln)
2g.178530303T=CA1310511741TTN,TTN-AS1c.98608A= (p.Lys32870=)
c.79693A= (p.Lys26565=)
c.79492A= (p.Lys26498=)
c.79117A= (p.Lys26373=)
c.106312A= (p.Lys35438=)
c.101389A= (p.Lys33797=)
n.446+6667T=
n.220-5429T=
c.105409A= (p.Lys35137=)
c.79303A= (p.Lys26435=)
c.79162A= (p.Lys26388=)
c.105205A= (p.Lys35069=)
c.100603A= (p.Lys33535=)
c.100600A= (p.Lys33534=)
c.97642A= (p.Lys32548=)
c.79258A= (p.Lys26420=)
c.100753A= (p.Lys33585=)
c.100750A= (p.Lys33584=)
c.100183A= (p.Lys33395=)
c.97525A= (p.Lys32509=)
c.97444A= (p.Lys32482=)
c.79207A= (p.Lys26403=)
c.69061A= (p.Lys23021=)
2g.178530304A=CA1310511744TTN,TTN-AS1c.98607T= (p.Ala32869=)
c.79692T= (p.Ala26564=)
c.79491T= (p.Ala26497=)
c.79116T= (p.Ala26372=)
c.106311T= (p.Ala35437=)
c.101388T= (p.Ala33796=)
n.446+6668A=
n.220-5428A=
c.105408T= (p.Ala35136=)
c.79302T= (p.Ala26434=)
c.79161T= (p.Ala26387=)
c.105204T= (p.Ala35068=)
c.100602T= (p.Ala33534=)
c.100599T= (p.Ala33533=)
c.97641T= (p.Ala32547=)
c.79257T= (p.Ala26419=)
c.100752T= (p.Ala33584=)
c.100749T= (p.Ala33583=)
c.100182T= (p.Ala33394=)
c.97524T= (p.Ala32508=)
c.97443T= (p.Ala32481=)
c.79206T= (p.Ala26402=)
c.69060T= (p.Ala23020=)
2g.178530304A>CCA430235100TTN,TTN-AS1c.98607T>G (p.Ala32869=)
c.79692T>G (p.Ala26564=)
c.79491T>G (p.Ala26497=)
c.79116T>G (p.Ala26372=)
c.106311T>G (p.Ala35437=)
c.101388T>G (p.Ala33796=)
n.446+6668A>C
n.220-5428A>C
c.105408T>G (p.Ala35136=)
c.79302T>G (p.Ala26434=)
c.79161T>G (p.Ala26387=)
c.105204T>G (p.Ala35068=)
c.100602T>G (p.Ala33534=)
c.100599T>G (p.Ala33533=)
c.97641T>G (p.Ala32547=)
c.79257T>G (p.Ala26419=)
c.100752T>G (p.Ala33584=)
c.100749T>G (p.Ala33583=)
c.100182T>G (p.Ala33394=)
c.97524T>G (p.Ala32508=)
c.97443T>G (p.Ala32481=)
c.79206T>G (p.Ala26402=)
c.69060T>G (p.Ala23020=)
2g.178530304A>GCA1985131TTN,TTN-AS1c.98607T>C (p.Ala32869=)
c.79692T>C (p.Ala26564=)
c.79491T>C (p.Ala26497=)
c.79116T>C (p.Ala26372=)
c.106311T>C (p.Ala35437=)
c.101388T>C (p.Ala33796=)
n.446+6668A>G
n.220-5428A>G
c.105408T>C (p.Ala35136=)
c.79302T>C (p.Ala26434=)
c.79161T>C (p.Ala26387=)
c.105204T>C (p.Ala35068=)
c.100602T>C (p.Ala33534=)
c.100599T>C (p.Ala33533=)
c.97641T>C (p.Ala32547=)
c.79257T>C (p.Ala26419=)
c.100752T>C (p.Ala33584=)
c.100749T>C (p.Ala33583=)
c.100182T>C (p.Ala33394=)
c.97524T>C (p.Ala32508=)
c.97443T>C (p.Ala32481=)
c.79206T>C (p.Ala26402=)
c.69060T>C (p.Ala23020=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530304A>TCA1985130TTN,TTN-AS1c.98607T>A (p.Ala32869=)
c.79692T>A (p.Ala26564=)
c.79491T>A (p.Ala26497=)
c.79116T>A (p.Ala26372=)
c.106311T>A (p.Ala35437=)
c.101388T>A (p.Ala33796=)
n.446+6668A>T
n.220-5428A>T
c.105408T>A (p.Ala35136=)
c.79302T>A (p.Ala26434=)
c.79161T>A (p.Ala26387=)
c.105204T>A (p.Ala35068=)
c.100602T>A (p.Ala33534=)
c.100599T>A (p.Ala33533=)
c.97641T>A (p.Ala32547=)
c.79257T>A (p.Ala26419=)
c.100752T>A (p.Ala33584=)
c.100749T>A (p.Ala33583=)
c.100182T>A (p.Ala33394=)
c.97524T>A (p.Ala32508=)
c.97443T>A (p.Ala32481=)
c.79206T>A (p.Ala26402=)
c.69060T>A (p.Ala23020=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530305G>ACA349406178TTN,TTN-AS1c.98606C>T (p.Ala32869Val)
c.79691C>T (p.Ala26564Val)
c.79490C>T (p.Ala26497Val)
c.79115C>T (p.Ala26372Val)
c.106310C>T (p.Ala35437Val)
c.101387C>T (p.Ala33796Val)
n.446+6669G>A
n.220-5427G>A
c.105407C>T (p.Ala35136Val)
c.79301C>T (p.Ala26434Val)
c.79160C>T (p.Ala26387Val)
c.105203C>T (p.Ala35068Val)
c.100601C>T (p.Ala33534Val)
c.100598C>T (p.Ala33533Val)
c.97640C>T (p.Ala32547Val)
c.79256C>T (p.Ala26419Val)
c.100751C>T (p.Ala33584Val)
c.100748C>T (p.Ala33583Val)
c.100181C>T (p.Ala33394Val)
c.97523C>T (p.Ala32508Val)
c.97442C>T (p.Ala32481Val)
c.79205C>T (p.Ala26402Val)
c.69059C>T (p.Ala23020Val)
2g.178530305G>CCA349406180TTN,TTN-AS1c.98606C>G (p.Ala32869Gly)
c.79691C>G (p.Ala26564Gly)
c.79490C>G (p.Ala26497Gly)
c.79115C>G (p.Ala26372Gly)
c.106310C>G (p.Ala35437Gly)
c.101387C>G (p.Ala33796Gly)
n.446+6669G>C
n.220-5427G>C
c.105407C>G (p.Ala35136Gly)
c.79301C>G (p.Ala26434Gly)
c.79160C>G (p.Ala26387Gly)
c.105203C>G (p.Ala35068Gly)
c.100601C>G (p.Ala33534Gly)
c.100598C>G (p.Ala33533Gly)
c.97640C>G (p.Ala32547Gly)
c.79256C>G (p.Ala26419Gly)
c.100751C>G (p.Ala33584Gly)
c.100748C>G (p.Ala33583Gly)
c.100181C>G (p.Ala33394Gly)
c.97523C>G (p.Ala32508Gly)
c.97442C>G (p.Ala32481Gly)
c.79205C>G (p.Ala26402Gly)
c.69059C>G (p.Ala23020Gly)
2g.178530305G>TCA349406182TTN,TTN-AS1c.98606C>A (p.Ala32869Asp)
c.79691C>A (p.Ala26564Asp)
c.79490C>A (p.Ala26497Asp)
c.79115C>A (p.Ala26372Asp)
c.106310C>A (p.Ala35437Asp)
c.101387C>A (p.Ala33796Asp)
n.446+6669G>T
n.220-5427G>T
c.105407C>A (p.Ala35136Asp)
c.79301C>A (p.Ala26434Asp)
c.79160C>A (p.Ala26387Asp)
c.105203C>A (p.Ala35068Asp)
c.100601C>A (p.Ala33534Asp)
c.100598C>A (p.Ala33533Asp)
c.97640C>A (p.Ala32547Asp)
c.79256C>A (p.Ala26419Asp)
c.100751C>A (p.Ala33584Asp)
c.100748C>A (p.Ala33583Asp)
c.100181C>A (p.Ala33394Asp)
c.97523C>A (p.Ala32508Asp)
c.97442C>A (p.Ala32481Asp)
c.79205C>A (p.Ala26402Asp)
c.69059C>A (p.Ala23020Asp)
2g.178530306C>ACA349406192TTN,TTN-AS1c.98605G>T (p.Ala32869Ser)
c.79690G>T (p.Ala26564Ser)
c.79489G>T (p.Ala26497Ser)
c.79114G>T (p.Ala26372Ser)
c.106309G>T (p.Ala35437Ser)
c.101386G>T (p.Ala33796Ser)
n.446+6670C>A
n.220-5426C>A
c.105406G>T (p.Ala35136Ser)
c.79300G>T (p.Ala26434Ser)
c.79159G>T (p.Ala26387Ser)
c.105202G>T (p.Ala35068Ser)
c.100600G>T (p.Ala33534Ser)
c.100597G>T (p.Ala33533Ser)
c.97639G>T (p.Ala32547Ser)
c.79255G>T (p.Ala26419Ser)
c.100750G>T (p.Ala33584Ser)
c.100747G>T (p.Ala33583Ser)
c.100180G>T (p.Ala33394Ser)
c.97522G>T (p.Ala32508Ser)
c.97441G>T (p.Ala32481Ser)
c.79204G>T (p.Ala26402Ser)
c.69058G>T (p.Ala23020Ser)
2g.178530306C>GCA349406188TTN,TTN-AS1c.98605G>C (p.Ala32869Pro)
c.79690G>C (p.Ala26564Pro)
c.79489G>C (p.Ala26497Pro)
c.79114G>C (p.Ala26372Pro)
c.106309G>C (p.Ala35437Pro)
c.101386G>C (p.Ala33796Pro)
n.446+6670C>G
n.220-5426C>G
c.105406G>C (p.Ala35136Pro)
c.79300G>C (p.Ala26434Pro)
c.79159G>C (p.Ala26387Pro)
c.105202G>C (p.Ala35068Pro)
c.100600G>C (p.Ala33534Pro)
c.100597G>C (p.Ala33533Pro)
c.97639G>C (p.Ala32547Pro)
c.79255G>C (p.Ala26419Pro)
c.100750G>C (p.Ala33584Pro)
c.100747G>C (p.Ala33583Pro)
c.100180G>C (p.Ala33394Pro)
c.97522G>C (p.Ala32508Pro)
c.97441G>C (p.Ala32481Pro)
c.79204G>C (p.Ala26402Pro)
c.69058G>C (p.Ala23020Pro)
2g.178530306C>TCA349406187TTN,TTN-AS1c.98605G>A (p.Ala32869Thr)
c.79690G>A (p.Ala26564Thr)
c.79489G>A (p.Ala26497Thr)
c.79114G>A (p.Ala26372Thr)
c.106309G>A (p.Ala35437Thr)
c.101386G>A (p.Ala33796Thr)
n.446+6670C>T
n.220-5426C>T
c.105406G>A (p.Ala35136Thr)
c.79300G>A (p.Ala26434Thr)
c.79159G>A (p.Ala26387Thr)
c.105202G>A (p.Ala35068Thr)
c.100600G>A (p.Ala33534Thr)
c.100597G>A (p.Ala33533Thr)
c.97639G>A (p.Ala32547Thr)
c.79255G>A (p.Ala26419Thr)
c.100750G>A (p.Ala33584Thr)
c.100747G>A (p.Ala33583Thr)
c.100180G>A (p.Ala33394Thr)
c.97522G>A (p.Ala32508Thr)
c.97441G>A (p.Ala32481Thr)
c.79204G>A (p.Ala26402Thr)
c.69058G>A (p.Ala23020Thr)
 gnomAD v4
2g.178530307A=CA1310511749TTN,TTN-AS1c.98604T= (p.Val32868=)
c.79689T= (p.Val26563=)
c.79488T= (p.Val26496=)
c.79113T= (p.Val26371=)
c.106308T= (p.Val35436=)
c.101385T= (p.Val33795=)
n.446+6671A=
n.220-5425A=
c.105405T= (p.Val35135=)
c.79299T= (p.Val26433=)
c.79158T= (p.Val26386=)
c.105201T= (p.Val35067=)
c.100599T= (p.Val33533=)
c.100596T= (p.Val33532=)
c.97638T= (p.Val32546=)
c.79254T= (p.Val26418=)
c.100749T= (p.Val33583=)
c.100746T= (p.Val33582=)
c.100179T= (p.Val33393=)
c.97521T= (p.Val32507=)
c.97440T= (p.Val32480=)
c.79203T= (p.Val26401=)
c.69057T= (p.Val23019=)
2g.178530307A>CCA430235107TTN,TTN-AS1c.98604T>G (p.Val32868=)
c.79689T>G (p.Val26563=)
c.79488T>G (p.Val26496=)
c.79113T>G (p.Val26371=)
c.106308T>G (p.Val35436=)
c.101385T>G (p.Val33795=)
n.446+6671A>C
n.220-5425A>C
c.105405T>G (p.Val35135=)
c.79299T>G (p.Val26433=)
c.79158T>G (p.Val26386=)
c.105201T>G (p.Val35067=)
c.100599T>G (p.Val33533=)
c.100596T>G (p.Val33532=)
c.97638T>G (p.Val32546=)
c.79254T>G (p.Val26418=)
c.100749T>G (p.Val33583=)
c.100746T>G (p.Val33582=)
c.100179T>G (p.Val33393=)
c.97521T>G (p.Val32507=)
c.97440T>G (p.Val32480=)
c.79203T>G (p.Val26401=)
c.69057T>G (p.Val23019=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178530307A>GCA430235108TTN,TTN-AS1c.98604T>C (p.Val32868=)
c.79689T>C (p.Val26563=)
c.79488T>C (p.Val26496=)
c.79113T>C (p.Val26371=)
c.106308T>C (p.Val35436=)
c.101385T>C (p.Val33795=)
n.446+6671A>G
n.220-5425A>G
c.105405T>C (p.Val35135=)
c.79299T>C (p.Val26433=)
c.79158T>C (p.Val26386=)
c.105201T>C (p.Val35067=)
c.100599T>C (p.Val33533=)
c.100596T>C (p.Val33532=)
c.97638T>C (p.Val32546=)
c.79254T>C (p.Val26418=)
c.100749T>C (p.Val33583=)
c.100746T>C (p.Val33582=)
c.100179T>C (p.Val33393=)
c.97521T>C (p.Val32507=)
c.97440T>C (p.Val32480=)
c.79203T>C (p.Val26401=)
c.69057T>C (p.Val23019=)
2g.178530307A>TCA430235109TTN,TTN-AS1c.98604T>A (p.Val32868=)
c.79689T>A (p.Val26563=)
c.79488T>A (p.Val26496=)
c.79113T>A (p.Val26371=)
c.106308T>A (p.Val35436=)
c.101385T>A (p.Val33795=)
n.446+6671A>T
n.220-5425A>T
c.105405T>A (p.Val35135=)
c.79299T>A (p.Val26433=)
c.79158T>A (p.Val26386=)
c.105201T>A (p.Val35067=)
c.100599T>A (p.Val33533=)
c.100596T>A (p.Val33532=)
c.97638T>A (p.Val32546=)
c.79254T>A (p.Val26418=)
c.100749T>A (p.Val33583=)
c.100746T>A (p.Val33582=)
c.100179T>A (p.Val33393=)
c.97521T>A (p.Val32507=)
c.97440T>A (p.Val32480=)
c.79203T>A (p.Val26401=)
c.69057T>A (p.Val23019=)
 ClinVar dbSNP
2g.178530308A>CCA349406196TTN,TTN-AS1c.98603T>G (p.Val32868Gly)
c.79688T>G (p.Val26563Gly)
c.79487T>G (p.Val26496Gly)
c.79112T>G (p.Val26371Gly)
c.106307T>G (p.Val35436Gly)
c.101384T>G (p.Val33795Gly)
n.446+6672A>C
n.220-5424A>C
c.105404T>G (p.Val35135Gly)
c.79298T>G (p.Val26433Gly)
c.79157T>G (p.Val26386Gly)
c.105200T>G (p.Val35067Gly)
c.100598T>G (p.Val33533Gly)
c.100595T>G (p.Val33532Gly)
c.97637T>G (p.Val32546Gly)
c.79253T>G (p.Val26418Gly)
c.100748T>G (p.Val33583Gly)
c.100745T>G (p.Val33582Gly)
c.100178T>G (p.Val33393Gly)
c.97520T>G (p.Val32507Gly)
c.97439T>G (p.Val32480Gly)
c.79202T>G (p.Val26401Gly)
c.69056T>G (p.Val23019Gly)
2g.178530308A>GCA349406202TTN,TTN-AS1c.98603T>C (p.Val32868Ala)
c.79688T>C (p.Val26563Ala)
c.79487T>C (p.Val26496Ala)
c.79112T>C (p.Val26371Ala)
c.106307T>C (p.Val35436Ala)
c.101384T>C (p.Val33795Ala)
n.446+6672A>G
n.220-5424A>G
c.105404T>C (p.Val35135Ala)
c.79298T>C (p.Val26433Ala)
c.79157T>C (p.Val26386Ala)
c.105200T>C (p.Val35067Ala)
c.100598T>C (p.Val33533Ala)
c.100595T>C (p.Val33532Ala)
c.97637T>C (p.Val32546Ala)
c.79253T>C (p.Val26418Ala)
c.100748T>C (p.Val33583Ala)
c.100745T>C (p.Val33582Ala)
c.100178T>C (p.Val33393Ala)
c.97520T>C (p.Val32507Ala)
c.97439T>C (p.Val32480Ala)
c.79202T>C (p.Val26401Ala)
c.69056T>C (p.Val23019Ala)
2g.178530308A>TCA349406199TTN,TTN-AS1c.98603T>A (p.Val32868Asp)
c.79688T>A (p.Val26563Asp)
c.79487T>A (p.Val26496Asp)
c.79112T>A (p.Val26371Asp)
c.106307T>A (p.Val35436Asp)
c.101384T>A (p.Val33795Asp)
n.446+6672A>T
n.220-5424A>T
c.105404T>A (p.Val35135Asp)
c.79298T>A (p.Val26433Asp)
c.79157T>A (p.Val26386Asp)
c.105200T>A (p.Val35067Asp)
c.100598T>A (p.Val33533Asp)
c.100595T>A (p.Val33532Asp)
c.97637T>A (p.Val32546Asp)
c.79253T>A (p.Val26418Asp)
c.100748T>A (p.Val33583Asp)
c.100745T>A (p.Val33582Asp)
c.100178T>A (p.Val33393Asp)
c.97520T>A (p.Val32507Asp)
c.97439T>A (p.Val32480Asp)
c.79202T>A (p.Val26401Asp)
c.69056T>A (p.Val23019Asp)
2g.178530309C>ACA60953278TTN,TTN-AS1c.98602G>T (p.Val32868Phe)
c.79687G>T (p.Val26563Phe)
c.79486G>T (p.Val26496Phe)
c.79111G>T (p.Val26371Phe)
c.106306G>T (p.Val35436Phe)
c.101383G>T (p.Val33795Phe)
n.446+6673C>A
n.220-5423C>A
c.105403G>T (p.Val35135Phe)
c.79297G>T (p.Val26433Phe)
c.79156G>T (p.Val26386Phe)
c.105199G>T (p.Val35067Phe)
c.100597G>T (p.Val33533Phe)
c.100594G>T (p.Val33532Phe)
c.97636G>T (p.Val32546Phe)
c.79252G>T (p.Val26418Phe)
c.100747G>T (p.Val33583Phe)
c.100744G>T (p.Val33582Phe)
c.100177G>T (p.Val33393Phe)
c.97519G>T (p.Val32507Phe)
c.97438G>T (p.Val32480Phe)
c.79201G>T (p.Val26401Phe)
c.69055G>T (p.Val23019Phe)
 dbSNP
2g.178530309C=CA1310514505TTN,TTN-AS1c.98602G= (p.Val32868=)
c.79687G= (p.Val26563=)
c.79486G= (p.Val26496=)
c.79111G= (p.Val26371=)
c.106306G= (p.Val35436=)
c.101383G= (p.Val33795=)
n.446+6673C=
n.220-5423C=
c.105403G= (p.Val35135=)
c.79297G= (p.Val26433=)
c.79156G= (p.Val26386=)
c.105199G= (p.Val35067=)
c.100597G= (p.Val33533=)
c.100594G= (p.Val33532=)
c.97636G= (p.Val32546=)
c.79252G= (p.Val26418=)
c.100747G= (p.Val33583=)
c.100744G= (p.Val33582=)
c.100177G= (p.Val33393=)
c.97519G= (p.Val32507=)
c.97438G= (p.Val32480=)
c.79201G= (p.Val26401=)
c.69055G= (p.Val23019=)
2g.178530309C>GCA349406207TTN,TTN-AS1c.98602G>C (p.Val32868Leu)
c.79687G>C (p.Val26563Leu)
c.79486G>C (p.Val26496Leu)
c.79111G>C (p.Val26371Leu)
c.106306G>C (p.Val35436Leu)
c.101383G>C (p.Val33795Leu)
n.446+6673C>G
n.220-5423C>G
c.105403G>C (p.Val35135Leu)
c.79297G>C (p.Val26433Leu)
c.79156G>C (p.Val26386Leu)
c.105199G>C (p.Val35067Leu)
c.100597G>C (p.Val33533Leu)
c.100594G>C (p.Val33532Leu)
c.97636G>C (p.Val32546Leu)
c.79252G>C (p.Val26418Leu)
c.100747G>C (p.Val33583Leu)
c.100744G>C (p.Val33582Leu)
c.100177G>C (p.Val33393Leu)
c.97519G>C (p.Val32507Leu)
c.97438G>C (p.Val32480Leu)
c.79201G>C (p.Val26401Leu)
c.69055G>C (p.Val23019Leu)
2g.178530309C>TCA349406208TTN,TTN-AS1c.98602G>A (p.Val32868Ile)
c.79687G>A (p.Val26563Ile)
c.79486G>A (p.Val26496Ile)
c.79111G>A (p.Val26371Ile)
c.106306G>A (p.Val35436Ile)
c.101383G>A (p.Val33795Ile)
n.446+6673C>T
n.220-5423C>T
c.105403G>A (p.Val35135Ile)
c.79297G>A (p.Val26433Ile)
c.79156G>A (p.Val26386Ile)
c.105199G>A (p.Val35067Ile)
c.100597G>A (p.Val33533Ile)
c.100594G>A (p.Val33532Ile)
c.97636G>A (p.Val32546Ile)
c.79252G>A (p.Val26418Ile)
c.100747G>A (p.Val33583Ile)
c.100744G>A (p.Val33582Ile)
c.100177G>A (p.Val33393Ile)
c.97519G>A (p.Val32507Ile)
c.97438G>A (p.Val32480Ile)
c.79201G>A (p.Val26401Ile)
c.69055G>A (p.Val23019Ile)
2g.178530310A=CA1310514506TTN,TTN-AS1c.98601T= (p.Ser32867=)
c.79686T= (p.Ser26562=)
c.79485T= (p.Ser26495=)
c.79110T= (p.Ser26370=)
c.106305T= (p.Ser35435=)
c.101382T= (p.Ser33794=)
n.446+6674A=
n.220-5422A=
c.105402T= (p.Ser35134=)
c.79296T= (p.Ser26432=)
c.79155T= (p.Ser26385=)
c.105198T= (p.Ser35066=)
c.100596T= (p.Ser33532=)
c.100593T= (p.Ser33531=)
c.97635T= (p.Ser32545=)
c.79251T= (p.Ser26417=)
c.100746T= (p.Ser33582=)
c.100743T= (p.Ser33581=)
c.100176T= (p.Ser33392=)
c.97518T= (p.Ser32506=)
c.97437T= (p.Ser32479=)
c.79200T= (p.Ser26400=)
c.69054T= (p.Ser23018=)
2g.178530310A>CCA349406210TTN,TTN-AS1c.98601T>G (p.Ser32867Arg)
c.79686T>G (p.Ser26562Arg)
c.79485T>G (p.Ser26495Arg)
c.79110T>G (p.Ser26370Arg)
c.106305T>G (p.Ser35435Arg)
c.101382T>G (p.Ser33794Arg)
n.446+6674A>C
n.220-5422A>C
c.105402T>G (p.Ser35134Arg)
c.79296T>G (p.Ser26432Arg)
c.79155T>G (p.Ser26385Arg)
c.105198T>G (p.Ser35066Arg)
c.100596T>G (p.Ser33532Arg)
c.100593T>G (p.Ser33531Arg)
c.97635T>G (p.Ser32545Arg)
c.79251T>G (p.Ser26417Arg)
c.100746T>G (p.Ser33582Arg)
c.100743T>G (p.Ser33581Arg)
c.100176T>G (p.Ser33392Arg)
c.97518T>G (p.Ser32506Arg)
c.97437T>G (p.Ser32479Arg)
c.79200T>G (p.Ser26400Arg)
c.69054T>G (p.Ser23018Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.178530310A>GCA430235114TTN,TTN-AS1c.98601T>C (p.Ser32867=)
c.79686T>C (p.Ser26562=)
c.79485T>C (p.Ser26495=)
c.79110T>C (p.Ser26370=)
c.106305T>C (p.Ser35435=)
c.101382T>C (p.Ser33794=)
n.446+6674A>G
n.220-5422A>G
c.105402T>C (p.Ser35134=)
c.79296T>C (p.Ser26432=)
c.79155T>C (p.Ser26385=)
c.105198T>C (p.Ser35066=)
c.100596T>C (p.Ser33532=)
c.100593T>C (p.Ser33531=)
c.97635T>C (p.Ser32545=)
c.79251T>C (p.Ser26417=)
c.100746T>C (p.Ser33582=)
c.100743T>C (p.Ser33581=)
c.100176T>C (p.Ser33392=)
c.97518T>C (p.Ser32506=)
c.97437T>C (p.Ser32479=)
c.79200T>C (p.Ser26400=)
c.69054T>C (p.Ser23018=)
2g.178530310A>TCA349406213TTN,TTN-AS1c.98601T>A (p.Ser32867Arg)
c.79686T>A (p.Ser26562Arg)
c.79485T>A (p.Ser26495Arg)
c.79110T>A (p.Ser26370Arg)
c.106305T>A (p.Ser35435Arg)
c.101382T>A (p.Ser33794Arg)
n.446+6674A>T
n.220-5422A>T
c.105402T>A (p.Ser35134Arg)
c.79296T>A (p.Ser26432Arg)
c.79155T>A (p.Ser26385Arg)
c.105198T>A (p.Ser35066Arg)
c.100596T>A (p.Ser33532Arg)
c.100593T>A (p.Ser33531Arg)
c.97635T>A (p.Ser32545Arg)
c.79251T>A (p.Ser26417Arg)
c.100746T>A (p.Ser33582Arg)
c.100743T>A (p.Ser33581Arg)
c.100176T>A (p.Ser33392Arg)
c.97518T>A (p.Ser32506Arg)
c.97437T>A (p.Ser32479Arg)
c.79200T>A (p.Ser26400Arg)
c.69054T>A (p.Ser23018Arg)
2g.178530311C>ACA349406214TTN,TTN-AS1c.98600G>T (p.Ser32867Ile)
c.79685G>T (p.Ser26562Ile)
c.79484G>T (p.Ser26495Ile)
c.79109G>T (p.Ser26370Ile)
c.106304G>T (p.Ser35435Ile)
c.101381G>T (p.Ser33794Ile)
n.446+6675C>A
n.220-5421C>A
c.105401G>T (p.Ser35134Ile)
c.79295G>T (p.Ser26432Ile)
c.79154G>T (p.Ser26385Ile)
c.105197G>T (p.Ser35066Ile)
c.100595G>T (p.Ser33532Ile)
c.100592G>T (p.Ser33531Ile)
c.97634G>T (p.Ser32545Ile)
c.79250G>T (p.Ser26417Ile)
c.100745G>T (p.Ser33582Ile)
c.100742G>T (p.Ser33581Ile)
c.100175G>T (p.Ser33392Ile)
c.97517G>T (p.Ser32506Ile)
c.97436G>T (p.Ser32479Ile)
c.79199G>T (p.Ser26400Ile)
c.69053G>T (p.Ser23018Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.178530311C=CA1310514507TTN,TTN-AS1c.98600G= (p.Ser32867=)
c.79685G= (p.Ser26562=)
c.79484G= (p.Ser26495=)
c.79109G= (p.Ser26370=)
c.106304G= (p.Ser35435=)
c.101381G= (p.Ser33794=)
n.446+6675C=
n.220-5421C=
c.105401G= (p.Ser35134=)
c.79295G= (p.Ser26432=)
c.79154G= (p.Ser26385=)
c.105197G= (p.Ser35066=)
c.100595G= (p.Ser33532=)
c.100592G= (p.Ser33531=)
c.97634G= (p.Ser32545=)
c.79250G= (p.Ser26417=)
c.100745G= (p.Ser33582=)
c.100742G= (p.Ser33581=)
c.100175G= (p.Ser33392=)
c.97517G= (p.Ser32506=)
c.97436G= (p.Ser32479=)
c.79199G= (p.Ser26400=)
c.69053G= (p.Ser23018=)
2g.178530311C>GCA349406216TTN,TTN-AS1c.98600G>C (p.Ser32867Thr)
c.79685G>C (p.Ser26562Thr)
c.79484G>C (p.Ser26495Thr)
c.79109G>C (p.Ser26370Thr)
c.106304G>C (p.Ser35435Thr)
c.101381G>C (p.Ser33794Thr)
n.446+6675C>G
n.220-5421C>G
c.105401G>C (p.Ser35134Thr)
c.79295G>C (p.Ser26432Thr)
c.79154G>C (p.Ser26385Thr)
c.105197G>C (p.Ser35066Thr)
c.100595G>C (p.Ser33532Thr)
c.100592G>C (p.Ser33531Thr)
c.97634G>C (p.Ser32545Thr)
c.79250G>C (p.Ser26417Thr)
c.100745G>C (p.Ser33582Thr)
c.100742G>C (p.Ser33581Thr)
c.100175G>C (p.Ser33392Thr)
c.97517G>C (p.Ser32506Thr)
c.97436G>C (p.Ser32479Thr)
c.79199G>C (p.Ser26400Thr)
c.69053G>C (p.Ser23018Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.178530311C>TCA349406218TTN,TTN-AS1c.98600G>A (p.Ser32867Asn)
c.79685G>A (p.Ser26562Asn)
c.79484G>A (p.Ser26495Asn)
c.79109G>A (p.Ser26370Asn)
c.106304G>A (p.Ser35435Asn)
c.101381G>A (p.Ser33794Asn)
n.446+6675C>T
n.220-5421C>T
c.105401G>A (p.Ser35134Asn)
c.79295G>A (p.Ser26432Asn)
c.79154G>A (p.Ser26385Asn)
c.105197G>A (p.Ser35066Asn)
c.100595G>A (p.Ser33532Asn)
c.100592G>A (p.Ser33531Asn)
c.97634G>A (p.Ser32545Asn)
c.79250G>A (p.Ser26417Asn)
c.100745G>A (p.Ser33582Asn)
c.100742G>A (p.Ser33581Asn)
c.100175G>A (p.Ser33392Asn)
c.97517G>A (p.Ser32506Asn)
c.97436G>A (p.Ser32479Asn)
c.79199G>A (p.Ser26400Asn)
c.69053G>A (p.Ser23018Asn)
 ClinVar dbSNP gnomAD v4
2g.178530312T>ACA349406222TTN,TTN-AS1c.98599A>T (p.Ser32867Cys)
c.79684A>T (p.Ser26562Cys)
c.79483A>T (p.Ser26495Cys)
c.79108A>T (p.Ser26370Cys)
c.106303A>T (p.Ser35435Cys)
c.101380A>T (p.Ser33794Cys)
n.446+6676T>A
n.220-5420T>A
c.105400A>T (p.Ser35134Cys)
c.79294A>T (p.Ser26432Cys)
c.79153A>T (p.Ser26385Cys)
c.105196A>T (p.Ser35066Cys)
c.100594A>T (p.Ser33532Cys)
c.100591A>T (p.Ser33531Cys)
c.97633A>T (p.Ser32545Cys)
c.79249A>T (p.Ser26417Cys)
c.100744A>T (p.Ser33582Cys)
c.100741A>T (p.Ser33581Cys)
c.100174A>T (p.Ser33392Cys)
c.97516A>T (p.Ser32506Cys)
c.97435A>T (p.Ser32479Cys)
c.79198A>T (p.Ser26400Cys)
c.69052A>T (p.Ser23018Cys)
2g.178530312T>CCA349406226TTN,TTN-AS1c.98599A>G (p.Ser32867Gly)
c.79684A>G (p.Ser26562Gly)
c.79483A>G (p.Ser26495Gly)
c.79108A>G (p.Ser26370Gly)
c.106303A>G (p.Ser35435Gly)
c.101380A>G (p.Ser33794Gly)
n.446+6676T>C
n.220-5420T>C
c.105400A>G (p.Ser35134Gly)
c.79294A>G (p.Ser26432Gly)
c.79153A>G (p.Ser26385Gly)
c.105196A>G (p.Ser35066Gly)
c.100594A>G (p.Ser33532Gly)
c.100591A>G (p.Ser33531Gly)
c.97633A>G (p.Ser32545Gly)
c.79249A>G (p.Ser26417Gly)
c.100744A>G (p.Ser33582Gly)
c.100741A>G (p.Ser33581Gly)
c.100174A>G (p.Ser33392Gly)
c.97516A>G (p.Ser32506Gly)
c.97435A>G (p.Ser32479Gly)
c.79198A>G (p.Ser26400Gly)
c.69052A>G (p.Ser23018Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.178530312T>GCA349406227TTN,TTN-AS1c.98599A>C (p.Ser32867Arg)
c.79684A>C (p.Ser26562Arg)
c.79483A>C (p.Ser26495Arg)
c.79108A>C (p.Ser26370Arg)
c.106303A>C (p.Ser35435Arg)
c.101380A>C (p.Ser33794Arg)
n.446+6676T>G
n.220-5420T>G
c.105400A>C (p.Ser35134Arg)
c.79294A>C (p.Ser26432Arg)
c.79153A>C (p.Ser26385Arg)
c.105196A>C (p.Ser35066Arg)
c.100594A>C (p.Ser33532Arg)
c.100591A>C (p.Ser33531Arg)
c.97633A>C (p.Ser32545Arg)
c.79249A>C (p.Ser26417Arg)
c.100744A>C (p.Ser33582Arg)
c.100741A>C (p.Ser33581Arg)
c.100174A>C (p.Ser33392Arg)
c.97516A>C (p.Ser32506Arg)
c.97435A>C (p.Ser32479Arg)
c.79198A>C (p.Ser26400Arg)
c.69052A>C (p.Ser23018Arg)
2g.178530312T=CA1310514508TTN,TTN-AS1c.98599A= (p.Ser32867=)
c.79684A= (p.Ser26562=)
c.79483A= (p.Ser26495=)
c.79108A= (p.Ser26370=)
c.106303A= (p.Ser35435=)
c.101380A= (p.Ser33794=)
n.446+6676T=
n.220-5420T=
c.105400A= (p.Ser35134=)
c.79294A= (p.Ser26432=)
c.79153A= (p.Ser26385=)
c.105196A= (p.Ser35066=)
c.100594A= (p.Ser33532=)
c.100591A= (p.Ser33531=)
c.97633A= (p.Ser32545=)
c.79249A= (p.Ser26417=)
c.100744A= (p.Ser33582=)
c.100741A= (p.Ser33581=)
c.100174A= (p.Ser33392=)
c.97516A= (p.Ser32506=)
c.97435A= (p.Ser32479=)
c.79198A= (p.Ser26400=)
c.69052A= (p.Ser23018=)
2g.178530313G>ACA430235119TTN,TTN-AS1c.98598C>T (p.Asp32866=)
c.79683C>T (p.Asp26561=)
c.79482C>T (p.Asp26494=)
c.79107C>T (p.Asp26369=)
c.106302C>T (p.Asp35434=)
c.101379C>T (p.Asp33793=)
n.446+6677G>A
n.220-5419G>A
c.105399C>T (p.Asp35133=)
c.79293C>T (p.Asp26431=)
c.79152C>T (p.Asp26384=)
c.105195C>T (p.Asp35065=)
c.100593C>T (p.Asp33531=)
c.100590C>T (p.Asp33530=)
c.97632C>T (p.Asp32544=)
c.79248C>T (p.Asp26416=)
c.100743C>T (p.Asp33581=)
c.100740C>T (p.Asp33580=)
c.100173C>T (p.Asp33391=)
c.97515C>T (p.Asp32505=)
c.97434C>T (p.Asp32478=)
c.79197C>T (p.Asp26399=)
c.69051C>T (p.Asp23017=)
 ClinVar dbSNP
2g.178530313G>CCA349406230TTN,TTN-AS1c.98598C>G (p.Asp32866Glu)
c.79683C>G (p.Asp26561Glu)
c.79482C>G (p.Asp26494Glu)
c.79107C>G (p.Asp26369Glu)
c.106302C>G (p.Asp35434Glu)
c.101379C>G (p.Asp33793Glu)
n.446+6677G>C
n.220-5419G>C
c.105399C>G (p.Asp35133Glu)
c.79293C>G (p.Asp26431Glu)
c.79152C>G (p.Asp26384Glu)
c.105195C>G (p.Asp35065Glu)
c.100593C>G (p.Asp33531Glu)
c.100590C>G (p.Asp33530Glu)
c.97632C>G (p.Asp32544Glu)
c.79248C>G (p.Asp26416Glu)
c.100743C>G (p.Asp33581Glu)
c.100740C>G (p.Asp33580Glu)
c.100173C>G (p.Asp33391Glu)
c.97515C>G (p.Asp32505Glu)
c.97434C>G (p.Asp32478Glu)
c.79197C>G (p.Asp26399Glu)
c.69051C>G (p.Asp23017Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178530313G=CA1310514509TTN,TTN-AS1c.98598C= (p.Asp32866=)
c.79683C= (p.Asp26561=)
c.79482C= (p.Asp26494=)
c.79107C= (p.Asp26369=)
c.106302C= (p.Asp35434=)
c.101379C= (p.Asp33793=)
n.446+6677G=
n.220-5419G=
c.105399C= (p.Asp35133=)
c.79293C= (p.Asp26431=)
c.79152C= (p.Asp26384=)
c.105195C= (p.Asp35065=)
c.100593C= (p.Asp33531=)
c.100590C= (p.Asp33530=)
c.97632C= (p.Asp32544=)
c.79248C= (p.Asp26416=)
c.100743C= (p.Asp33581=)
c.100740C= (p.Asp33580=)
c.100173C= (p.Asp33391=)
c.97515C= (p.Asp32505=)
c.97434C= (p.Asp32478=)
c.79197C= (p.Asp26399=)
c.69051C= (p.Asp23017=)
2g.178530313G>TCA349406233TTN,TTN-AS1c.98598C>A (p.Asp32866Glu)
c.79683C>A (p.Asp26561Glu)
c.79482C>A (p.Asp26494Glu)
c.79107C>A (p.Asp26369Glu)
c.106302C>A (p.Asp35434Glu)
c.101379C>A (p.Asp33793Glu)
n.446+6677G>T
n.220-5419G>T
c.105399C>A (p.Asp35133Glu)
c.79293C>A (p.Asp26431Glu)
c.79152C>A (p.Asp26384Glu)
c.105195C>A (p.Asp35065Glu)
c.100593C>A (p.Asp33531Glu)
c.100590C>A (p.Asp33530Glu)
c.97632C>A (p.Asp32544Glu)
c.79248C>A (p.Asp26416Glu)
c.100743C>A (p.Asp33581Glu)
c.100740C>A (p.Asp33580Glu)
c.100173C>A (p.Asp33391Glu)
c.97515C>A (p.Asp32505Glu)
c.97434C>A (p.Asp32478Glu)
c.79197C>A (p.Asp26399Glu)
c.69051C>A (p.Asp23017Glu)
2g.178530314T>ACA349406237TTN,TTN-AS1c.98597A>T (p.Asp32866Val)
c.79682A>T (p.Asp26561Val)
c.79481A>T (p.Asp26494Val)
c.79106A>T (p.Asp26369Val)
c.106301A>T (p.Asp35434Val)
c.101378A>T (p.Asp33793Val)
n.446+6678T>A
n.220-5418T>A
c.105398A>T (p.Asp35133Val)
c.79292A>T (p.Asp26431Val)
c.79151A>T (p.Asp26384Val)
c.105194A>T (p.Asp35065Val)
c.100592A>T (p.Asp33531Val)
c.100589A>T (p.Asp33530Val)
c.97631A>T (p.Asp32544Val)
c.79247A>T (p.Asp26416Val)
c.100742A>T (p.Asp33581Val)
c.100739A>T (p.Asp33580Val)
c.100172A>T (p.Asp33391Val)
c.97514A>T (p.Asp32505Val)
c.97433A>T (p.Asp32478Val)
c.79196A>T (p.Asp26399Val)
c.69050A>T (p.Asp23017Val)
2g.178530314T>CCA349406242TTN,TTN-AS1c.98597A>G (p.Asp32866Gly)
c.79682A>G (p.Asp26561Gly)
c.79481A>G (p.Asp26494Gly)
c.79106A>G (p.Asp26369Gly)
c.106301A>G (p.Asp35434Gly)
c.101378A>G (p.Asp33793Gly)
n.446+6678T>C
n.220-5418T>C
c.105398A>G (p.Asp35133Gly)
c.79292A>G (p.Asp26431Gly)
c.79151A>G (p.Asp26384Gly)
c.105194A>G (p.Asp35065Gly)
c.100592A>G (p.Asp33531Gly)
c.100589A>G (p.Asp33530Gly)
c.97631A>G (p.Asp32544Gly)
c.79247A>G (p.Asp26416Gly)
c.100742A>G (p.Asp33581Gly)
c.100739A>G (p.Asp33580Gly)
c.100172A>G (p.Asp33391Gly)
c.97514A>G (p.Asp32505Gly)
c.97433A>G (p.Asp32478Gly)
c.79196A>G (p.Asp26399Gly)
c.69050A>G (p.Asp23017Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178530314T>GCA349406239TTN,TTN-AS1c.98597A>C (p.Asp32866Ala)
c.79682A>C (p.Asp26561Ala)
c.79481A>C (p.Asp26494Ala)
c.79106A>C (p.Asp26369Ala)
c.106301A>C (p.Asp35434Ala)
c.101378A>C (p.Asp33793Ala)
n.446+6678T>G
n.220-5418T>G
c.105398A>C (p.Asp35133Ala)
c.79292A>C (p.Asp26431Ala)
c.79151A>C (p.Asp26384Ala)
c.105194A>C (p.Asp35065Ala)
c.100592A>C (p.Asp33531Ala)
c.100589A>C (p.Asp33530Ala)
c.97631A>C (p.Asp32544Ala)
c.79247A>C (p.Asp26416Ala)
c.100742A>C (p.Asp33581Ala)
c.100739A>C (p.Asp33580Ala)
c.100172A>C (p.Asp33391Ala)
c.97514A>C (p.Asp32505Ala)
c.97433A>C (p.Asp32478Ala)
c.79196A>C (p.Asp26399Ala)
c.69050A>C (p.Asp23017Ala)
2g.178530314T=CA1310514510TTN,TTN-AS1c.98597A= (p.Asp32866=)
c.79682A= (p.Asp26561=)
c.79481A= (p.Asp26494=)
c.79106A= (p.Asp26369=)
c.106301A= (p.Asp35434=)
c.101378A= (p.Asp33793=)
n.446+6678T=
n.220-5418T=
c.105398A= (p.Asp35133=)
c.79292A= (p.Asp26431=)
c.79151A= (p.Asp26384=)
c.105194A= (p.Asp35065=)
c.100592A= (p.Asp33531=)
c.100589A= (p.Asp33530=)
c.97631A= (p.Asp32544=)
c.79247A= (p.Asp26416=)
c.100742A= (p.Asp33581=)
c.100739A= (p.Asp33580=)
c.100172A= (p.Asp33391=)
c.97514A= (p.Asp32505=)
c.97433A= (p.Asp32478=)
c.79196A= (p.Asp26399=)
c.69050A= (p.Asp23017=)
2g.178530315C>ACA349406246TTN,TTN-AS1c.98596G>T (p.Asp32866Tyr)
c.79681G>T (p.Asp26561Tyr)
c.79480G>T (p.Asp26494Tyr)
c.79105G>T (p.Asp26369Tyr)
c.106300G>T (p.Asp35434Tyr)
c.101377G>T (p.Asp33793Tyr)
n.446+6679C>A
n.220-5417C>A
c.105397G>T (p.Asp35133Tyr)
c.79291G>T (p.Asp26431Tyr)
c.79150G>T (p.Asp26384Tyr)
c.105193G>T (p.Asp35065Tyr)
c.100591G>T (p.Asp33531Tyr)
c.100588G>T (p.Asp33530Tyr)
c.97630G>T (p.Asp32544Tyr)
c.79246G>T (p.Asp26416Tyr)
c.100741G>T (p.Asp33581Tyr)
c.100738G>T (p.Asp33580Tyr)
c.100171G>T (p.Asp33391Tyr)
c.97513G>T (p.Asp32505Tyr)
c.97432G>T (p.Asp32478Tyr)
c.79195G>T (p.Asp26399Tyr)
c.69049G>T (p.Asp23017Tyr)
 gnomAD v4
2g.178530315C=CA1310514511TTN,TTN-AS1c.98596G= (p.Asp32866=)
c.79681G= (p.Asp26561=)
c.79480G= (p.Asp26494=)
c.79105G= (p.Asp26369=)
c.106300G= (p.Asp35434=)
c.101377G= (p.Asp33793=)
n.446+6679C=
n.220-5417C=
c.105397G= (p.Asp35133=)
c.79291G= (p.Asp26431=)
c.79150G= (p.Asp26384=)
c.105193G= (p.Asp35065=)
c.100591G= (p.Asp33531=)
c.100588G= (p.Asp33530=)
c.97630G= (p.Asp32544=)
c.79246G= (p.Asp26416=)
c.100741G= (p.Asp33581=)
c.100738G= (p.Asp33580=)
c.100171G= (p.Asp33391=)
c.97513G= (p.Asp32505=)
c.97432G= (p.Asp32478=)
c.79195G= (p.Asp26399=)
c.69049G= (p.Asp23017=)
2g.178530315C>GCA1985132TTN,TTN-AS1c.98596G>C (p.Asp32866His)
c.79681G>C (p.Asp26561His)
c.79480G>C (p.Asp26494His)
c.79105G>C (p.Asp26369His)
c.106300G>C (p.Asp35434His)
c.101377G>C (p.Asp33793His)
n.446+6679C>G
n.220-5417C>G
c.105397G>C (p.Asp35133His)
c.79291G>C (p.Asp26431His)
c.79150G>C (p.Asp26384His)
c.105193G>C (p.Asp35065His)
c.100591G>C (p.Asp33531His)
c.100588G>C (p.Asp33530His)
c.97630G>C (p.Asp32544His)
c.79246G>C (p.Asp26416His)
c.100741G>C (p.Asp33581His)
c.100738G>C (p.Asp33580His)
c.100171G>C (p.Asp33391His)
c.97513G>C (p.Asp32505His)
c.97432G>C (p.Asp32478His)
c.79195G>C (p.Asp26399His)
c.69049G>C (p.Asp23017His)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530315C>TCA349406248TTN,TTN-AS1c.98596G>A (p.Asp32866Asn)
c.79681G>A (p.Asp26561Asn)
c.79480G>A (p.Asp26494Asn)
c.79105G>A (p.Asp26369Asn)
c.106300G>A (p.Asp35434Asn)
c.101377G>A (p.Asp33793Asn)
n.446+6679C>T
n.220-5417C>T
c.105397G>A (p.Asp35133Asn)
c.79291G>A (p.Asp26431Asn)
c.79150G>A (p.Asp26384Asn)
c.105193G>A (p.Asp35065Asn)
c.100591G>A (p.Asp33531Asn)
c.100588G>A (p.Asp33530Asn)
c.97630G>A (p.Asp32544Asn)
c.79246G>A (p.Asp26416Asn)
c.100741G>A (p.Asp33581Asn)
c.100738G>A (p.Asp33580Asn)
c.100171G>A (p.Asp33391Asn)
c.97513G>A (p.Asp32505Asn)
c.97432G>A (p.Asp32478Asn)
c.79195G>A (p.Asp26399Asn)
c.69049G>A (p.Asp23017Asn)
 COSMIC COSMIC COSMIC COSMIC
2g.178530316T>ACA430235123TTN,TTN-AS1c.98595A>T (p.Ser32865=)
c.79680A>T (p.Ser26560=)
c.79479A>T (p.Ser26493=)
c.79104A>T (p.Ser26368=)
c.106299A>T (p.Ser35433=)
c.101376A>T (p.Ser33792=)
n.446+6680T>A
n.220-5416T>A
c.105396A>T (p.Ser35132=)
c.79290A>T (p.Ser26430=)
c.79149A>T (p.Ser26383=)
c.105192A>T (p.Ser35064=)
c.100590A>T (p.Ser33530=)
c.100587A>T (p.Ser33529=)
c.97629A>T (p.Ser32543=)
c.79245A>T (p.Ser26415=)
c.100740A>T (p.Ser33580=)
c.100737A>T (p.Ser33579=)
c.100170A>T (p.Ser33390=)
c.97512A>T (p.Ser32504=)
c.97431A>T (p.Ser32477=)
c.79194A>T (p.Ser26398=)
c.69048A>T (p.Ser23016=)
2g.178530316T>CCA430235124TTN,TTN-AS1c.98595A>G (p.Ser32865=)
c.79680A>G (p.Ser26560=)
c.79479A>G (p.Ser26493=)
c.79104A>G (p.Ser26368=)
c.106299A>G (p.Ser35433=)
c.101376A>G (p.Ser33792=)
n.446+6680T>C
n.220-5416T>C
c.105396A>G (p.Ser35132=)
c.79290A>G (p.Ser26430=)
c.79149A>G (p.Ser26383=)
c.105192A>G (p.Ser35064=)
c.100590A>G (p.Ser33530=)
c.100587A>G (p.Ser33529=)
c.97629A>G (p.Ser32543=)
c.79245A>G (p.Ser26415=)
c.100740A>G (p.Ser33580=)
c.100737A>G (p.Ser33579=)
c.100170A>G (p.Ser33390=)
c.97512A>G (p.Ser32504=)
c.97431A>G (p.Ser32477=)
c.79194A>G (p.Ser26398=)
c.69048A>G (p.Ser23016=)
2g.178530316T>GCA430235125TTN,TTN-AS1c.98595A>C (p.Ser32865=)
c.79680A>C (p.Ser26560=)
c.79479A>C (p.Ser26493=)
c.79104A>C (p.Ser26368=)
c.106299A>C (p.Ser35433=)
c.101376A>C (p.Ser33792=)
n.446+6680T>G
n.220-5416T>G
c.105396A>C (p.Ser35132=)
c.79290A>C (p.Ser26430=)
c.79149A>C (p.Ser26383=)
c.105192A>C (p.Ser35064=)
c.100590A>C (p.Ser33530=)
c.100587A>C (p.Ser33529=)
c.97629A>C (p.Ser32543=)
c.79245A>C (p.Ser26415=)
c.100740A>C (p.Ser33580=)
c.100737A>C (p.Ser33579=)
c.100170A>C (p.Ser33390=)
c.97512A>C (p.Ser32504=)
c.97431A>C (p.Ser32477=)
c.79194A>C (p.Ser26398=)
c.69048A>C (p.Ser23016=)
2g.178530316_178530319delinsTGAACA1310514512TTN,TTN-AS1c.98592_98595delinsTTCA (p.Ser32864=)
c.79677_79680delinsTTCA (p.Ser26559=)
c.79476_79479delinsTTCA (p.Ser26492=)
c.79101_79104delinsTTCA (p.Ser26367=)
c.106296_106299delinsTTCA (p.Ser35432=)
c.101373_101376delinsTTCA (p.Ser33791=)
n.446+6680_446+6683delinsTGAA
n.220-5416_220-5413delinsTGAA
c.105393_105396delinsTTCA (p.Ser35131=)
c.79287_79290delinsTTCA (p.Ser26429=)
c.79146_79149delinsTTCA (p.Ser26382=)
c.105189_105192delinsTTCA (p.Ser35063=)
c.100587_100590delinsTTCA (p.Ser33529=)
c.100584_100587delinsTTCA (p.Ser33528=)
c.97626_97629delinsTTCA (p.Ser32542=)
c.79242_79245delinsTTCA (p.Ser26414=)
c.100737_100740delinsTTCA (p.Ser33579=)
c.100734_100737delinsTTCA (p.Ser33578=)
c.100167_100170delinsTTCA (p.Ser33389=)
c.97509_97512delinsTTCA (p.Ser32503=)
c.97428_97431delinsTTCA (p.Ser32476=)
c.79191_79194delinsTTCA (p.Ser26397=)
c.69045_69048delinsTTCA (p.Ser23015=)
2g.178530317G>ACA349406257TTN,TTN-AS1c.98594C>T (p.Ser32865Leu)
c.79679C>T (p.Ser26560Leu)
c.79478C>T (p.Ser26493Leu)
c.79103C>T (p.Ser26368Leu)
c.106298C>T (p.Ser35433Leu)
c.101375C>T (p.Ser33792Leu)
n.446+6681G>A
n.220-5415G>A
c.105395C>T (p.Ser35132Leu)
c.79289C>T (p.Ser26430Leu)
c.79148C>T (p.Ser26383Leu)
c.105191C>T (p.Ser35064Leu)
c.100589C>T (p.Ser33530Leu)
c.100586C>T (p.Ser33529Leu)
c.97628C>T (p.Ser32543Leu)
c.79244C>T (p.Ser26415Leu)
c.100739C>T (p.Ser33580Leu)
c.100736C>T (p.Ser33579Leu)
c.100169C>T (p.Ser33390Leu)
c.97511C>T (p.Ser32504Leu)
c.97430C>T (p.Ser32477Leu)
c.79193C>T (p.Ser26398Leu)
c.69047C>T (p.Ser23016Leu)
 gnomAD v4
2g.178530317G>CCA349406258TTN,TTN-AS1c.98594C>G (p.Ser32865Ter)
c.79679C>G (p.Ser26560Ter)
c.79478C>G (p.Ser26493Ter)
c.79103C>G (p.Ser26368Ter)
c.106298C>G (p.Ser35433Ter)
c.101375C>G (p.Ser33792Ter)
n.446+6681G>C
n.220-5415G>C
c.105395C>G (p.Ser35132Ter)
c.79289C>G (p.Ser26430Ter)
c.79148C>G (p.Ser26383Ter)
c.105191C>G (p.Ser35064Ter)
c.100589C>G (p.Ser33530Ter)
c.100586C>G (p.Ser33529Ter)
c.97628C>G (p.Ser32543Ter)
c.79244C>G (p.Ser26415Ter)
c.100739C>G (p.Ser33580Ter)
c.100736C>G (p.Ser33579Ter)
c.100169C>G (p.Ser33390Ter)
c.97511C>G (p.Ser32504Ter)
c.97430C>G (p.Ser32477Ter)
c.79193C>G (p.Ser26398Ter)
c.69047C>G (p.Ser23016Ter)
2g.178530317G>TCA349406260TTN,TTN-AS1c.98594C>A (p.Ser32865Ter)
c.79679C>A (p.Ser26560Ter)
c.79478C>A (p.Ser26493Ter)
c.79103C>A (p.Ser26368Ter)
c.106298C>A (p.Ser35433Ter)
c.101375C>A (p.Ser33792Ter)
n.446+6681G>T
n.220-5415G>T
c.105395C>A (p.Ser35132Ter)
c.79289C>A (p.Ser26430Ter)
c.79148C>A (p.Ser26383Ter)
c.105191C>A (p.Ser35064Ter)
c.100589C>A (p.Ser33530Ter)
c.100586C>A (p.Ser33529Ter)
c.97628C>A (p.Ser32543Ter)
c.79244C>A (p.Ser26415Ter)
c.100739C>A (p.Ser33580Ter)
c.100736C>A (p.Ser33579Ter)
c.100169C>A (p.Ser33390Ter)
c.97511C>A (p.Ser32504Ter)
c.97430C>A (p.Ser32477Ter)
c.79193C>A (p.Ser26398Ter)
c.69047C>A (p.Ser23016Ter)
2g.178530320_178530322delCA538434976TTN,TTN-AS1c.98592_98594del (p.Ser32865del)
c.79677_79679del (p.Ser26560del)
c.79476_79478del (p.Ser26493del)
c.79101_79103del (p.Ser26368del)
c.106296_106298del (p.Ser35433del)
c.101373_101375del (p.Ser33792del)
n.446+6684_446+6686del
n.220-5412_220-5410del
c.105393_105395del (p.Ser35132del)
c.79287_79289del (p.Ser26430del)
c.79146_79148del (p.Ser26383del)
c.105189_105191del (p.Ser35064del)
c.100587_100589del (p.Ser33530del)
c.100584_100586del (p.Ser33529del)
c.97626_97628del (p.Ser32543del)
c.79242_79244del (p.Ser26415del)
c.100737_100739del (p.Ser33580del)
c.100734_100736del (p.Ser33579del)
c.100167_100169del (p.Ser33390del)
c.97509_97511del (p.Ser32504del)
c.97428_97430del (p.Ser32477del)
c.79191_79193del (p.Ser26398del)
c.69045_69047del (p.Ser23016del)
 dbSNP gnomAD v2 gnomAD v4
2g.178530318A>CCA349406262TTN,TTN-AS1c.98593T>G (p.Ser32865Ala)
c.79678T>G (p.Ser26560Ala)
c.79477T>G (p.Ser26493Ala)
c.79102T>G (p.Ser26368Ala)
c.106297T>G (p.Ser35433Ala)
c.101374T>G (p.Ser33792Ala)
n.446+6682A>C
n.220-5414A>C
c.105394T>G (p.Ser35132Ala)
c.79288T>G (p.Ser26430Ala)
c.79147T>G (p.Ser26383Ala)
c.105190T>G (p.Ser35064Ala)
c.100588T>G (p.Ser33530Ala)
c.100585T>G (p.Ser33529Ala)
c.97627T>G (p.Ser32543Ala)
c.79243T>G (p.Ser26415Ala)
c.100738T>G (p.Ser33580Ala)
c.100735T>G (p.Ser33579Ala)
c.100168T>G (p.Ser33390Ala)
c.97510T>G (p.Ser32504Ala)
c.97429T>G (p.Ser32477Ala)
c.79192T>G (p.Ser26398Ala)
c.69046T>G (p.Ser23016Ala)
2g.178530318A>GCA349406263TTN,TTN-AS1c.98593T>C (p.Ser32865Pro)
c.79678T>C (p.Ser26560Pro)
c.79477T>C (p.Ser26493Pro)
c.79102T>C (p.Ser26368Pro)
c.106297T>C (p.Ser35433Pro)
c.101374T>C (p.Ser33792Pro)
n.446+6682A>G
n.220-5414A>G
c.105394T>C (p.Ser35132Pro)
c.79288T>C (p.Ser26430Pro)
c.79147T>C (p.Ser26383Pro)
c.105190T>C (p.Ser35064Pro)
c.100588T>C (p.Ser33530Pro)
c.100585T>C (p.Ser33529Pro)
c.97627T>C (p.Ser32543Pro)
c.79243T>C (p.Ser26415Pro)
c.100738T>C (p.Ser33580Pro)
c.100735T>C (p.Ser33579Pro)
c.100168T>C (p.Ser33390Pro)
c.97510T>C (p.Ser32504Pro)
c.97429T>C (p.Ser32477Pro)
c.79192T>C (p.Ser26398Pro)
c.69046T>C (p.Ser23016Pro)
2g.178530318A>TCA349406265TTN,TTN-AS1c.98593T>A (p.Ser32865Thr)
c.79678T>A (p.Ser26560Thr)
c.79477T>A (p.Ser26493Thr)
c.79102T>A (p.Ser26368Thr)
c.106297T>A (p.Ser35433Thr)
c.101374T>A (p.Ser33792Thr)
n.446+6682A>T
n.220-5414A>T
c.105394T>A (p.Ser35132Thr)
c.79288T>A (p.Ser26430Thr)
c.79147T>A (p.Ser26383Thr)
c.105190T>A (p.Ser35064Thr)
c.100588T>A (p.Ser33530Thr)
c.100585T>A (p.Ser33529Thr)
c.97627T>A (p.Ser32543Thr)
c.79243T>A (p.Ser26415Thr)
c.100738T>A (p.Ser33580Thr)
c.100735T>A (p.Ser33579Thr)
c.100168T>A (p.Ser33390Thr)
c.97510T>A (p.Ser32504Thr)
c.97429T>A (p.Ser32477Thr)
c.79192T>A (p.Ser26398Thr)
c.69046T>A (p.Ser23016Thr)
2g.178530319A>CCA430235129TTN,TTN-AS1c.98592T>G (p.Ser32864=)
c.79677T>G (p.Ser26559=)
c.79476T>G (p.Ser26492=)
c.79101T>G (p.Ser26367=)
c.106296T>G (p.Ser35432=)
c.101373T>G (p.Ser33791=)
n.446+6683A>C
n.220-5413A>C
c.105393T>G (p.Ser35131=)
c.79287T>G (p.Ser26429=)
c.79146T>G (p.Ser26382=)
c.105189T>G (p.Ser35063=)
c.100587T>G (p.Ser33529=)
c.100584T>G (p.Ser33528=)
c.97626T>G (p.Ser32542=)
c.79242T>G (p.Ser26414=)
c.100737T>G (p.Ser33579=)
c.100734T>G (p.Ser33578=)
c.100167T>G (p.Ser33389=)
c.97509T>G (p.Ser32503=)
c.97428T>G (p.Ser32476=)
c.79191T>G (p.Ser26397=)
c.69045T>G (p.Ser23015=)
2g.178530319A>GCA430235131TTN,TTN-AS1c.98592T>C (p.Ser32864=)
c.79677T>C (p.Ser26559=)
c.79476T>C (p.Ser26492=)
c.79101T>C (p.Ser26367=)
c.106296T>C (p.Ser35432=)
c.101373T>C (p.Ser33791=)
n.446+6683A>G
n.220-5413A>G
c.105393T>C (p.Ser35131=)
c.79287T>C (p.Ser26429=)
c.79146T>C (p.Ser26382=)
c.105189T>C (p.Ser35063=)
c.100587T>C (p.Ser33529=)
c.100584T>C (p.Ser33528=)
c.97626T>C (p.Ser32542=)
c.79242T>C (p.Ser26414=)
c.100737T>C (p.Ser33579=)
c.100734T>C (p.Ser33578=)
c.100167T>C (p.Ser33389=)
c.97509T>C (p.Ser32503=)
c.97428T>C (p.Ser32476=)
c.79191T>C (p.Ser26397=)
c.69045T>C (p.Ser23015=)
 ClinVar
2g.178530319A>TCA430235132TTN,TTN-AS1c.98592T>A (p.Ser32864=)
c.79677T>A (p.Ser26559=)
c.79476T>A (p.Ser26492=)
c.79101T>A (p.Ser26367=)
c.106296T>A (p.Ser35432=)
c.101373T>A (p.Ser33791=)
n.446+6683A>T
n.220-5413A>T
c.105393T>A (p.Ser35131=)
c.79287T>A (p.Ser26429=)
c.79146T>A (p.Ser26382=)
c.105189T>A (p.Ser35063=)
c.100587T>A (p.Ser33529=)
c.100584T>A (p.Ser33528=)
c.97626T>A (p.Ser32542=)
c.79242T>A (p.Ser26414=)
c.100737T>A (p.Ser33579=)
c.100734T>A (p.Ser33578=)
c.100167T>A (p.Ser33389=)
c.97509T>A (p.Ser32503=)
c.97428T>A (p.Ser32476=)
c.79191T>A (p.Ser26397=)
c.69045T>A (p.Ser23015=)
2g.178530320G>ACA349406274TTN,TTN-AS1c.98591C>T (p.Ser32864Phe)
c.79676C>T (p.Ser26559Phe)
c.79475C>T (p.Ser26492Phe)
c.79100C>T (p.Ser26367Phe)
c.106295C>T (p.Ser35432Phe)
c.101372C>T (p.Ser33791Phe)
n.446+6684G>A
n.220-5412G>A
c.105392C>T (p.Ser35131Phe)
c.79286C>T (p.Ser26429Phe)
c.79145C>T (p.Ser26382Phe)
c.105188C>T (p.Ser35063Phe)
c.100586C>T (p.Ser33529Phe)
c.100583C>T (p.Ser33528Phe)
c.97625C>T (p.Ser32542Phe)
c.79241C>T (p.Ser26414Phe)
c.100736C>T (p.Ser33579Phe)
c.100733C>T (p.Ser33578Phe)
c.100166C>T (p.Ser33389Phe)
c.97508C>T (p.Ser32503Phe)
c.97427C>T (p.Ser32476Phe)
c.79190C>T (p.Ser26397Phe)
c.69044C>T (p.Ser23015Phe)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178530320G>CCA349406272TTN,TTN-AS1c.98591C>G (p.Ser32864Cys)
c.79676C>G (p.Ser26559Cys)
c.79475C>G (p.Ser26492Cys)
c.79100C>G (p.Ser26367Cys)
c.106295C>G (p.Ser35432Cys)
c.101372C>G (p.Ser33791Cys)
n.446+6684G>C
n.220-5412G>C
c.105392C>G (p.Ser35131Cys)
c.79286C>G (p.Ser26429Cys)
c.79145C>G (p.Ser26382Cys)
c.105188C>G (p.Ser35063Cys)
c.100586C>G (p.Ser33529Cys)
c.100583C>G (p.Ser33528Cys)
c.97625C>G (p.Ser32542Cys)
c.79241C>G (p.Ser26414Cys)
c.100736C>G (p.Ser33579Cys)
c.100733C>G (p.Ser33578Cys)
c.100166C>G (p.Ser33389Cys)
c.97508C>G (p.Ser32503Cys)
c.97427C>G (p.Ser32476Cys)
c.79190C>G (p.Ser26397Cys)
c.69044C>G (p.Ser23015Cys)
2g.178530320G=CA1310514513TTN,TTN-AS1c.98591C= (p.Ser32864=)
c.79676C= (p.Ser26559=)
c.79475C= (p.Ser26492=)
c.79100C= (p.Ser26367=)
c.106295C= (p.Ser35432=)
c.101372C= (p.Ser33791=)
n.446+6684G=
n.220-5412G=
c.105392C= (p.Ser35131=)
c.79286C= (p.Ser26429=)
c.79145C= (p.Ser26382=)
c.105188C= (p.Ser35063=)
c.100586C= (p.Ser33529=)
c.100583C= (p.Ser33528=)
c.97625C= (p.Ser32542=)
c.79241C= (p.Ser26414=)
c.100736C= (p.Ser33579=)
c.100733C= (p.Ser33578=)
c.100166C= (p.Ser33389=)
c.97508C= (p.Ser32503=)
c.97427C= (p.Ser32476=)
c.79190C= (p.Ser26397=)
c.69044C= (p.Ser23015=)
2g.178530320G>TCA1985133TTN,TTN-AS1c.98591C>A (p.Ser32864Tyr)
c.79676C>A (p.Ser26559Tyr)
c.79475C>A (p.Ser26492Tyr)
c.79100C>A (p.Ser26367Tyr)
c.106295C>A (p.Ser35432Tyr)
c.101372C>A (p.Ser33791Tyr)
n.446+6684G>T
n.220-5412G>T
c.105392C>A (p.Ser35131Tyr)
c.79286C>A (p.Ser26429Tyr)
c.79145C>A (p.Ser26382Tyr)
c.105188C>A (p.Ser35063Tyr)
c.100586C>A (p.Ser33529Tyr)
c.100583C>A (p.Ser33528Tyr)
c.97625C>A (p.Ser32542Tyr)
c.79241C>A (p.Ser26414Tyr)
c.100736C>A (p.Ser33579Tyr)
c.100733C>A (p.Ser33578Tyr)
c.100166C>A (p.Ser33389Tyr)
c.97508C>A (p.Ser32503Tyr)
c.97427C>A (p.Ser32476Tyr)
c.79190C>A (p.Ser26397Tyr)
c.69044C>A (p.Ser23015Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178530321A>CCA349406277TTN,TTN-AS1c.98590T>G (p.Ser32864Ala)
c.79675T>G (p.Ser26559Ala)
c.79474T>G (p.Ser26492Ala)
c.79099T>G (p.Ser26367Ala)
c.106294T>G (p.Ser35432Ala)
c.101371T>G (p.Ser33791Ala)
n.446+6685A>C
n.220-5411A>C
c.105391T>G (p.Ser35131Ala)
c.79285T>G (p.Ser26429Ala)
c.79144T>G (p.Ser26382Ala)
c.105187T>G (p.Ser35063Ala)
c.100585T>G (p.Ser33529Ala)
c.100582T>G (p.Ser33528Ala)
c.97624T>G (p.Ser32542Ala)
c.79240T>G (p.Ser26414Ala)
c.100735T>G (p.Ser33579Ala)
c.100732T>G (p.Ser33578Ala)
c.100165T>G (p.Ser33389Ala)
c.97507T>G (p.Ser32503Ala)
c.97426T>G (p.Ser32476Ala)
c.79189T>G (p.Ser26397Ala)
c.69043T>G (p.Ser23015Ala)
2g.178530321A>GCA349406280TTN,TTN-AS1c.98590T>C (p.Ser32864Pro)
c.79675T>C (p.Ser26559Pro)
c.79474T>C (p.Ser26492Pro)
c.79099T>C (p.Ser26367Pro)
c.106294T>C (p.Ser35432Pro)
c.101371T>C (p.Ser33791Pro)
n.446+6685A>G
n.220-5411A>G
c.105391T>C (p.Ser35131Pro)
c.79285T>C (p.Ser26429Pro)
c.79144T>C (p.Ser26382Pro)
c.105187T>C (p.Ser35063Pro)
c.100585T>C (p.Ser33529Pro)
c.100582T>C (p.Ser33528Pro)
c.97624T>C (p.Ser32542Pro)
c.79240T>C (p.Ser26414Pro)
c.100735T>C (p.Ser33579Pro)
c.100732T>C (p.Ser33578Pro)
c.100165T>C (p.Ser33389Pro)
c.97507T>C (p.Ser32503Pro)
c.97426T>C (p.Ser32476Pro)
c.79189T>C (p.Ser26397Pro)
c.69043T>C (p.Ser23015Pro)
2g.178530321A>TCA349406281TTN,TTN-AS1c.98590T>A (p.Ser32864Thr)
c.79675T>A (p.Ser26559Thr)
c.79474T>A (p.Ser26492Thr)
c.79099T>A (p.Ser26367Thr)
c.106294T>A (p.Ser35432Thr)
c.101371T>A (p.Ser33791Thr)
n.446+6685A>T
n.220-5411A>T
c.105391T>A (p.Ser35131Thr)
c.79285T>A (p.Ser26429Thr)
c.79144T>A (p.Ser26382Thr)
c.105187T>A (p.Ser35063Thr)
c.100585T>A (p.Ser33529Thr)
c.100582T>A (p.Ser33528Thr)
c.97624T>A (p.Ser32542Thr)
c.79240T>A (p.Ser26414Thr)
c.100735T>A (p.Ser33579Thr)
c.100732T>A (p.Ser33578Thr)
c.100165T>A (p.Ser33389Thr)
c.97507T>A (p.Ser32503Thr)
c.97426T>A (p.Ser32476Thr)
c.79189T>A (p.Ser26397Thr)
c.69043T>A (p.Ser23015Thr)
2g.178530322A=CA1310514514TTN,TTN-AS1c.98589T= (p.Val32863=)
c.79674T= (p.Val26558=)
c.79473T= (p.Val26491=)
c.79098T= (p.Val26366=)
c.106293T= (p.Val35431=)
c.101370T= (p.Val33790=)
n.446+6686A=
n.220-5410A=
c.105390T= (p.Val35130=)
c.79284T= (p.Val26428=)
c.79143T= (p.Val26381=)
c.105186T= (p.Val35062=)
c.100584T= (p.Val33528=)
c.100581T= (p.Val33527=)
c.97623T= (p.Val32541=)
c.79239T= (p.Val26413=)
c.100734T= (p.Val33578=)
c.100731T= (p.Val33577=)
c.100164T= (p.Val33388=)
c.97506T= (p.Val32502=)
c.97425T= (p.Val32475=)
c.79188T= (p.Val26396=)
c.69042T= (p.Val23014=)
2g.178530322A>CCA430235137TTN,TTN-AS1c.98589T>G (p.Val32863=)
c.79674T>G (p.Val26558=)
c.79473T>G (p.Val26491=)
c.79098T>G (p.Val26366=)
c.106293T>G (p.Val35431=)
c.101370T>G (p.Val33790=)
n.446+6686A>C
n.220-5410A>C
c.105390T>G (p.Val35130=)
c.79284T>G (p.Val26428=)
c.79143T>G (p.Val26381=)
c.105186T>G (p.Val35062=)
c.100584T>G (p.Val33528=)
c.100581T>G (p.Val33527=)
c.97623T>G (p.Val32541=)
c.79239T>G (p.Val26413=)
c.100734T>G (p.Val33578=)
c.100731T>G (p.Val33577=)
c.100164T>G (p.Val33388=)
c.97506T>G (p.Val32502=)
c.97425T>G (p.Val32475=)
c.79188T>G (p.Val26396=)
c.69042T>G (p.Val23014=)
2g.178530322A>GCA1985134TTN,TTN-AS1c.98589T>C (p.Val32863=)
c.79674T>C (p.Val26558=)
c.79473T>C (p.Val26491=)
c.79098T>C (p.Val26366=)
c.106293T>C (p.Val35431=)
c.101370T>C (p.Val33790=)
n.446+6686A>G
n.220-5410A>G
c.105390T>C (p.Val35130=)
c.79284T>C (p.Val26428=)
c.79143T>C (p.Val26381=)
c.105186T>C (p.Val35062=)
c.100584T>C (p.Val33528=)
c.100581T>C (p.Val33527=)
c.97623T>C (p.Val32541=)
c.79239T>C (p.Val26413=)
c.100734T>C (p.Val33578=)
c.100731T>C (p.Val33577=)
c.100164T>C (p.Val33388=)
c.97506T>C (p.Val32502=)
c.97425T>C (p.Val32475=)
c.79188T>C (p.Val26396=)
c.69042T>C (p.Val23014=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530322A>TCA430235140TTN,TTN-AS1c.98589T>A (p.Val32863=)
c.79674T>A (p.Val26558=)
c.79473T>A (p.Val26491=)
c.79098T>A (p.Val26366=)
c.106293T>A (p.Val35431=)
c.101370T>A (p.Val33790=)
n.446+6686A>T
n.220-5410A>T
c.105390T>A (p.Val35130=)
c.79284T>A (p.Val26428=)
c.79143T>A (p.Val26381=)
c.105186T>A (p.Val35062=)
c.100584T>A (p.Val33528=)
c.100581T>A (p.Val33527=)
c.97623T>A (p.Val32541=)
c.79239T>A (p.Val26413=)
c.100734T>A (p.Val33578=)
c.100731T>A (p.Val33577=)
c.100164T>A (p.Val33388=)
c.97506T>A (p.Val32502=)
c.97425T>A (p.Val32475=)
c.79188T>A (p.Val26396=)
c.69042T>A (p.Val23014=)
2g.178530323A=CA1310514515TTN,TTN-AS1c.98588T= (p.Val32863=)
c.79673T= (p.Val26558=)
c.79472T= (p.Val26491=)
c.79097T= (p.Val26366=)
c.106292T= (p.Val35431=)
c.101369T= (p.Val33790=)
n.446+6687A=
n.220-5409A=
c.105389T= (p.Val35130=)
c.79283T= (p.Val26428=)
c.79142T= (p.Val26381=)
c.105185T= (p.Val35062=)
c.100583T= (p.Val33528=)
c.100580T= (p.Val33527=)
c.97622T= (p.Val32541=)
c.79238T= (p.Val26413=)
c.100733T= (p.Val33578=)
c.100730T= (p.Val33577=)
c.100163T= (p.Val33388=)
c.97505T= (p.Val32502=)
c.97424T= (p.Val32475=)
c.79187T= (p.Val26396=)
c.69041T= (p.Val23014=)
2g.178530323A>CCA349406287TTN,TTN-AS1c.98588T>G (p.Val32863Gly)
c.79673T>G (p.Val26558Gly)
c.79472T>G (p.Val26491Gly)
c.79097T>G (p.Val26366Gly)
c.106292T>G (p.Val35431Gly)
c.101369T>G (p.Val33790Gly)
n.446+6687A>C
n.220-5409A>C
c.105389T>G (p.Val35130Gly)
c.79283T>G (p.Val26428Gly)
c.79142T>G (p.Val26381Gly)
c.105185T>G (p.Val35062Gly)
c.100583T>G (p.Val33528Gly)
c.100580T>G (p.Val33527Gly)
c.97622T>G (p.Val32541Gly)
c.79238T>G (p.Val26413Gly)
c.100733T>G (p.Val33578Gly)
c.100730T>G (p.Val33577Gly)
c.100163T>G (p.Val33388Gly)
c.97505T>G (p.Val32502Gly)
c.97424T>G (p.Val32475Gly)
c.79187T>G (p.Val26396Gly)
c.69041T>G (p.Val23014Gly)
2g.178530323A>GCA1985135TTN,TTN-AS1c.98588T>C (p.Val32863Ala)
c.79673T>C (p.Val26558Ala)
c.79472T>C (p.Val26491Ala)
c.79097T>C (p.Val26366Ala)
c.106292T>C (p.Val35431Ala)
c.101369T>C (p.Val33790Ala)
n.446+6687A>G
n.220-5409A>G
c.105389T>C (p.Val35130Ala)
c.79283T>C (p.Val26428Ala)
c.79142T>C (p.Val26381Ala)
c.105185T>C (p.Val35062Ala)
c.100583T>C (p.Val33528Ala)
c.100580T>C (p.Val33527Ala)
c.97622T>C (p.Val32541Ala)
c.79238T>C (p.Val26413Ala)
c.100733T>C (p.Val33578Ala)
c.100730T>C (p.Val33577Ala)
c.100163T>C (p.Val33388Ala)
c.97505T>C (p.Val32502Ala)
c.97424T>C (p.Val32475Ala)
c.79187T>C (p.Val26396Ala)
c.69041T>C (p.Val23014Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530323A>TCA349406291TTN,TTN-AS1c.98588T>A (p.Val32863Asp)
c.79673T>A (p.Val26558Asp)
c.79472T>A (p.Val26491Asp)
c.79097T>A (p.Val26366Asp)
c.106292T>A (p.Val35431Asp)
c.101369T>A (p.Val33790Asp)
n.446+6687A>T
n.220-5409A>T
c.105389T>A (p.Val35130Asp)
c.79283T>A (p.Val26428Asp)
c.79142T>A (p.Val26381Asp)
c.105185T>A (p.Val35062Asp)
c.100583T>A (p.Val33528Asp)
c.100580T>A (p.Val33527Asp)
c.97622T>A (p.Val32541Asp)
c.79238T>A (p.Val26413Asp)
c.100733T>A (p.Val33578Asp)
c.100730T>A (p.Val33577Asp)
c.100163T>A (p.Val33388Asp)
c.97505T>A (p.Val32502Asp)
c.97424T>A (p.Val32475Asp)
c.79187T>A (p.Val26396Asp)
c.69041T>A (p.Val23014Asp)
2g.178530324C>ACA349406294TTN,TTN-AS1c.98587G>T (p.Val32863Phe)
c.79672G>T (p.Val26558Phe)
c.79471G>T (p.Val26491Phe)
c.79096G>T (p.Val26366Phe)
c.106291G>T (p.Val35431Phe)
c.101368G>T (p.Val33790Phe)
n.446+6688C>A
n.220-5408C>A
c.105388G>T (p.Val35130Phe)
c.79282G>T (p.Val26428Phe)
c.79141G>T (p.Val26381Phe)
c.105184G>T (p.Val35062Phe)
c.100582G>T (p.Val33528Phe)
c.100579G>T (p.Val33527Phe)
c.97621G>T (p.Val32541Phe)
c.79237G>T (p.Val26413Phe)
c.100732G>T (p.Val33578Phe)
c.100729G>T (p.Val33577Phe)
c.100162G>T (p.Val33388Phe)
c.97504G>T (p.Val32502Phe)
c.97423G>T (p.Val32475Phe)
c.79186G>T (p.Val26396Phe)
c.69040G>T (p.Val23014Phe)
2g.178530324C=CA1310514516TTN,TTN-AS1c.98587G= (p.Val32863=)
c.79672G= (p.Val26558=)
c.79471G= (p.Val26491=)
c.79096G= (p.Val26366=)
c.106291G= (p.Val35431=)
c.101368G= (p.Val33790=)
n.446+6688C=
n.220-5408C=
c.105388G= (p.Val35130=)
c.79282G= (p.Val26428=)
c.79141G= (p.Val26381=)
c.105184G= (p.Val35062=)
c.100582G= (p.Val33528=)
c.100579G= (p.Val33527=)
c.97621G= (p.Val32541=)
c.79237G= (p.Val26413=)
c.100732G= (p.Val33578=)
c.100729G= (p.Val33577=)
c.100162G= (p.Val33388=)
c.97504G= (p.Val32502=)
c.97423G= (p.Val32475=)
c.79186G= (p.Val26396=)
c.69040G= (p.Val23014=)
2g.178530324C>GCA1985136TTN,TTN-AS1c.98587G>C (p.Val32863Leu)
c.79672G>C (p.Val26558Leu)
c.79471G>C (p.Val26491Leu)
c.79096G>C (p.Val26366Leu)
c.106291G>C (p.Val35431Leu)
c.101368G>C (p.Val33790Leu)
n.446+6688C>G
n.220-5408C>G
c.105388G>C (p.Val35130Leu)
c.79282G>C (p.Val26428Leu)
c.79141G>C (p.Val26381Leu)
c.105184G>C (p.Val35062Leu)
c.100582G>C (p.Val33528Leu)
c.100579G>C (p.Val33527Leu)
c.97621G>C (p.Val32541Leu)
c.79237G>C (p.Val26413Leu)
c.100732G>C (p.Val33578Leu)
c.100729G>C (p.Val33577Leu)
c.100162G>C (p.Val33388Leu)
c.97504G>C (p.Val32502Leu)
c.97423G>C (p.Val32475Leu)
c.79186G>C (p.Val26396Leu)
c.69040G>C (p.Val23014Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530324C>TCA349406295TTN,TTN-AS1c.98587G>A (p.Val32863Ile)
c.79672G>A (p.Val26558Ile)
c.79471G>A (p.Val26491Ile)
c.79096G>A (p.Val26366Ile)
c.106291G>A (p.Val35431Ile)
c.101368G>A (p.Val33790Ile)
n.446+6688C>T
n.220-5408C>T
c.105388G>A (p.Val35130Ile)
c.79282G>A (p.Val26428Ile)
c.79141G>A (p.Val26381Ile)
c.105184G>A (p.Val35062Ile)
c.100582G>A (p.Val33528Ile)
c.100579G>A (p.Val33527Ile)
c.97621G>A (p.Val32541Ile)
c.79237G>A (p.Val26413Ile)
c.100732G>A (p.Val33578Ile)
c.100729G>A (p.Val33577Ile)
c.100162G>A (p.Val33388Ile)
c.97504G>A (p.Val32502Ile)
c.97423G>A (p.Val32475Ile)
c.79186G>A (p.Val26396Ile)
c.69040G>A (p.Val23014Ile)
2g.178530325A>CCA430235144TTN,TTN-AS1c.98586T>G (p.Thr32862=)
c.79671T>G (p.Thr26557=)
c.79470T>G (p.Thr26490=)
c.79095T>G (p.Thr26365=)
c.106290T>G (p.Thr35430=)
c.101367T>G (p.Thr33789=)
n.446+6689A>C
n.220-5407A>C
c.105387T>G (p.Thr35129=)
c.79281T>G (p.Thr26427=)
c.79140T>G (p.Thr26380=)
c.105183T>G (p.Thr35061=)
c.100581T>G (p.Thr33527=)
c.100578T>G (p.Thr33526=)
c.97620T>G (p.Thr32540=)
c.79236T>G (p.Thr26412=)
c.100731T>G (p.Thr33577=)
c.100728T>G (p.Thr33576=)
c.100161T>G (p.Thr33387=)
c.97503T>G (p.Thr32501=)
c.97422T>G (p.Thr32474=)
c.79185T>G (p.Thr26395=)
c.69039T>G (p.Thr23013=)
2g.178530325A>GCA430235145TTN,TTN-AS1c.98586T>C (p.Thr32862=)
c.79671T>C (p.Thr26557=)
c.79470T>C (p.Thr26490=)
c.79095T>C (p.Thr26365=)
c.106290T>C (p.Thr35430=)
c.101367T>C (p.Thr33789=)
n.446+6689A>G
n.220-5407A>G
c.105387T>C (p.Thr35129=)
c.79281T>C (p.Thr26427=)
c.79140T>C (p.Thr26380=)
c.105183T>C (p.Thr35061=)
c.100581T>C (p.Thr33527=)
c.100578T>C (p.Thr33526=)
c.97620T>C (p.Thr32540=)
c.79236T>C (p.Thr26412=)
c.100731T>C (p.Thr33577=)
c.100728T>C (p.Thr33576=)
c.100161T>C (p.Thr33387=)
c.97503T>C (p.Thr32501=)
c.97422T>C (p.Thr32474=)
c.79185T>C (p.Thr26395=)
c.69039T>C (p.Thr23013=)
2g.178530325A>TCA430235142TTN,TTN-AS1c.98586T>A (p.Thr32862=)
c.79671T>A (p.Thr26557=)
c.79470T>A (p.Thr26490=)
c.79095T>A (p.Thr26365=)
c.106290T>A (p.Thr35430=)
c.101367T>A (p.Thr33789=)
n.446+6689A>T
n.220-5407A>T
c.105387T>A (p.Thr35129=)
c.79281T>A (p.Thr26427=)
c.79140T>A (p.Thr26380=)
c.105183T>A (p.Thr35061=)
c.100581T>A (p.Thr33527=)
c.100578T>A (p.Thr33526=)
c.97620T>A (p.Thr32540=)
c.79236T>A (p.Thr26412=)
c.100731T>A (p.Thr33577=)
c.100728T>A (p.Thr33576=)
c.100161T>A (p.Thr33387=)
c.97503T>A (p.Thr32501=)
c.97422T>A (p.Thr32474=)
c.79185T>A (p.Thr26395=)
c.69039T>A (p.Thr23013=)
2g.178530326G>ACA349406297TTN,TTN-AS1c.98585C>T (p.Thr32862Ile)
c.79670C>T (p.Thr26557Ile)
c.79469C>T (p.Thr26490Ile)
c.79094C>T (p.Thr26365Ile)
c.106289C>T (p.Thr35430Ile)
c.101366C>T (p.Thr33789Ile)
n.446+6690G>A
n.220-5406G>A
c.105386C>T (p.Thr35129Ile)
c.79280C>T (p.Thr26427Ile)
c.79139C>T (p.Thr26380Ile)
c.105182C>T (p.Thr35061Ile)
c.100580C>T (p.Thr33527Ile)
c.100577C>T (p.Thr33526Ile)
c.97619C>T (p.Thr32540Ile)
c.79235C>T (p.Thr26412Ile)
c.100730C>T (p.Thr33577Ile)
c.100727C>T (p.Thr33576Ile)
c.100160C>T (p.Thr33387Ile)
c.97502C>T (p.Thr32501Ile)
c.97421C>T (p.Thr32474Ile)
c.79184C>T (p.Thr26395Ile)
c.69038C>T (p.Thr23013Ile)
 gnomAD v4
2g.178530326G>CCA349406298TTN,TTN-AS1c.98585C>G (p.Thr32862Ser)
c.79670C>G (p.Thr26557Ser)
c.79469C>G (p.Thr26490Ser)
c.79094C>G (p.Thr26365Ser)
c.106289C>G (p.Thr35430Ser)
c.101366C>G (p.Thr33789Ser)
n.446+6690G>C
n.220-5406G>C
c.105386C>G (p.Thr35129Ser)
c.79280C>G (p.Thr26427Ser)
c.79139C>G (p.Thr26380Ser)
c.105182C>G (p.Thr35061Ser)
c.100580C>G (p.Thr33527Ser)
c.100577C>G (p.Thr33526Ser)
c.97619C>G (p.Thr32540Ser)
c.79235C>G (p.Thr26412Ser)
c.100730C>G (p.Thr33577Ser)
c.100727C>G (p.Thr33576Ser)
c.100160C>G (p.Thr33387Ser)
c.97502C>G (p.Thr32501Ser)
c.97421C>G (p.Thr32474Ser)
c.79184C>G (p.Thr26395Ser)
c.69038C>G (p.Thr23013Ser)
 gnomAD v4
2g.178530326G>TCA349406300TTN,TTN-AS1c.98585C>A (p.Thr32862Asn)
c.79670C>A (p.Thr26557Asn)
c.79469C>A (p.Thr26490Asn)
c.79094C>A (p.Thr26365Asn)
c.106289C>A (p.Thr35430Asn)
c.101366C>A (p.Thr33789Asn)
n.446+6690G>T
n.220-5406G>T
c.105386C>A (p.Thr35129Asn)
c.79280C>A (p.Thr26427Asn)
c.79139C>A (p.Thr26380Asn)
c.105182C>A (p.Thr35061Asn)
c.100580C>A (p.Thr33527Asn)
c.100577C>A (p.Thr33526Asn)
c.97619C>A (p.Thr32540Asn)
c.79235C>A (p.Thr26412Asn)
c.100730C>A (p.Thr33577Asn)
c.100727C>A (p.Thr33576Asn)
c.100160C>A (p.Thr33387Asn)
c.97502C>A (p.Thr32501Asn)
c.97421C>A (p.Thr32474Asn)
c.79184C>A (p.Thr26395Asn)
c.69038C>A (p.Thr23013Asn)
 ClinVar
2g.178530327T>ACA349406304TTN,TTN-AS1c.98584A>T (p.Thr32862Ser)
c.79669A>T (p.Thr26557Ser)
c.79468A>T (p.Thr26490Ser)
c.79093A>T (p.Thr26365Ser)
c.106288A>T (p.Thr35430Ser)
c.101365A>T (p.Thr33789Ser)
n.446+6691T>A
n.220-5405T>A
c.105385A>T (p.Thr35129Ser)
c.79279A>T (p.Thr26427Ser)
c.79138A>T (p.Thr26380Ser)
c.105181A>T (p.Thr35061Ser)
c.100579A>T (p.Thr33527Ser)
c.100576A>T (p.Thr33526Ser)
c.97618A>T (p.Thr32540Ser)
c.79234A>T (p.Thr26412Ser)
c.100729A>T (p.Thr33577Ser)
c.100726A>T (p.Thr33576Ser)
c.100159A>T (p.Thr33387Ser)
c.97501A>T (p.Thr32501Ser)
c.97420A>T (p.Thr32474Ser)
c.79183A>T (p.Thr26395Ser)
c.69037A>T (p.Thr23013Ser)
2g.178530327T>CCA349406308TTN,TTN-AS1c.98584A>G (p.Thr32862Ala)
c.79669A>G (p.Thr26557Ala)
c.79468A>G (p.Thr26490Ala)
c.79093A>G (p.Thr26365Ala)
c.106288A>G (p.Thr35430Ala)
c.101365A>G (p.Thr33789Ala)
n.446+6691T>C
n.220-5405T>C
c.105385A>G (p.Thr35129Ala)
c.79279A>G (p.Thr26427Ala)
c.79138A>G (p.Thr26380Ala)
c.105181A>G (p.Thr35061Ala)
c.100579A>G (p.Thr33527Ala)
c.100576A>G (p.Thr33526Ala)
c.97618A>G (p.Thr32540Ala)
c.79234A>G (p.Thr26412Ala)
c.100729A>G (p.Thr33577Ala)
c.100726A>G (p.Thr33576Ala)
c.100159A>G (p.Thr33387Ala)
c.97501A>G (p.Thr32501Ala)
c.97420A>G (p.Thr32474Ala)
c.79183A>G (p.Thr26395Ala)
c.69037A>G (p.Thr23013Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178530327T>GCA349406306TTN,TTN-AS1c.98584A>C (p.Thr32862Pro)
c.79669A>C (p.Thr26557Pro)
c.79468A>C (p.Thr26490Pro)
c.79093A>C (p.Thr26365Pro)
c.106288A>C (p.Thr35430Pro)
c.101365A>C (p.Thr33789Pro)
n.446+6691T>G
n.220-5405T>G
c.105385A>C (p.Thr35129Pro)
c.79279A>C (p.Thr26427Pro)
c.79138A>C (p.Thr26380Pro)
c.105181A>C (p.Thr35061Pro)
c.100579A>C (p.Thr33527Pro)
c.100576A>C (p.Thr33526Pro)
c.97618A>C (p.Thr32540Pro)
c.79234A>C (p.Thr26412Pro)
c.100729A>C (p.Thr33577Pro)
c.100726A>C (p.Thr33576Pro)
c.100159A>C (p.Thr33387Pro)
c.97501A>C (p.Thr32501Pro)
c.97420A>C (p.Thr32474Pro)
c.79183A>C (p.Thr26395Pro)
c.69037A>C (p.Thr23013Pro)
2g.178530327T=CA1310514517TTN,TTN-AS1c.98584A= (p.Thr32862=)
c.79669A= (p.Thr26557=)
c.79468A= (p.Thr26490=)
c.79093A= (p.Thr26365=)
c.106288A= (p.Thr35430=)
c.101365A= (p.Thr33789=)
n.446+6691T=
n.220-5405T=
c.105385A= (p.Thr35129=)
c.79279A= (p.Thr26427=)
c.79138A= (p.Thr26380=)
c.105181A= (p.Thr35061=)
c.100579A= (p.Thr33527=)
c.100576A= (p.Thr33526=)
c.97618A= (p.Thr32540=)
c.79234A= (p.Thr26412=)
c.100729A= (p.Thr33577=)
c.100726A= (p.Thr33576=)
c.100159A= (p.Thr33387=)
c.97501A= (p.Thr32501=)
c.97420A= (p.Thr32474=)
c.79183A= (p.Thr26395=)
c.69037A= (p.Thr23013=)
2g.178530328T>ACA430235153TTN,TTN-AS1c.98583A>T (p.Thr32861=)
c.79668A>T (p.Thr26556=)
c.79467A>T (p.Thr26489=)
c.79092A>T (p.Thr26364=)
c.106287A>T (p.Thr35429=)
c.101364A>T (p.Thr33788=)
n.446+6692T>A
n.220-5404T>A
c.105384A>T (p.Thr35128=)
c.79278A>T (p.Thr26426=)
c.79137A>T (p.Thr26379=)
c.105180A>T (p.Thr35060=)
c.100578A>T (p.Thr33526=)
c.100575A>T (p.Thr33525=)
c.97617A>T (p.Thr32539=)
c.79233A>T (p.Thr26411=)
c.100728A>T (p.Thr33576=)
c.100725A>T (p.Thr33575=)
c.100158A>T (p.Thr33386=)
c.97500A>T (p.Thr32500=)
c.97419A>T (p.Thr32473=)
c.79182A>T (p.Thr26394=)
c.69036A>T (p.Thr23012=)
2g.178530328T>CCA430235151TTN,TTN-AS1c.98583A>G (p.Thr32861=)
c.79668A>G (p.Thr26556=)
c.79467A>G (p.Thr26489=)
c.79092A>G (p.Thr26364=)
c.106287A>G (p.Thr35429=)
c.101364A>G (p.Thr33788=)
n.446+6692T>C
n.220-5404T>C
c.105384A>G (p.Thr35128=)
c.79278A>G (p.Thr26426=)
c.79137A>G (p.Thr26379=)
c.105180A>G (p.Thr35060=)
c.100578A>G (p.Thr33526=)
c.100575A>G (p.Thr33525=)
c.97617A>G (p.Thr32539=)
c.79233A>G (p.Thr26411=)
c.100728A>G (p.Thr33576=)
c.100725A>G (p.Thr33575=)
c.100158A>G (p.Thr33386=)
c.97500A>G (p.Thr32500=)
c.97419A>G (p.Thr32473=)
c.79182A>G (p.Thr26394=)
c.69036A>G (p.Thr23012=)
2g.178530328T>GCA430235150TTN,TTN-AS1c.98583A>C (p.Thr32861=)
c.79668A>C (p.Thr26556=)
c.79467A>C (p.Thr26489=)
c.79092A>C (p.Thr26364=)
c.106287A>C (p.Thr35429=)
c.101364A>C (p.Thr33788=)
n.446+6692T>G
n.220-5404T>G
c.105384A>C (p.Thr35128=)
c.79278A>C (p.Thr26426=)
c.79137A>C (p.Thr26379=)
c.105180A>C (p.Thr35060=)
c.100578A>C (p.Thr33526=)
c.100575A>C (p.Thr33525=)
c.97617A>C (p.Thr32539=)
c.79233A>C (p.Thr26411=)
c.100728A>C (p.Thr33576=)
c.100725A>C (p.Thr33575=)
c.100158A>C (p.Thr33386=)
c.97500A>C (p.Thr32500=)
c.97419A>C (p.Thr32473=)
c.79182A>C (p.Thr26394=)
c.69036A>C (p.Thr23012=)
2g.178530329G>ACA349406310TTN,TTN-AS1c.98582C>T (p.Thr32861Ile)
c.79667C>T (p.Thr26556Ile)
c.79466C>T (p.Thr26489Ile)
c.79091C>T (p.Thr26364Ile)
c.106286C>T (p.Thr35429Ile)
c.101363C>T (p.Thr33788Ile)
n.446+6693G>A
n.220-5403G>A
c.105383C>T (p.Thr35128Ile)
c.79277C>T (p.Thr26426Ile)
c.79136C>T (p.Thr26379Ile)
c.105179C>T (p.Thr35060Ile)
c.100577C>T (p.Thr33526Ile)
c.100574C>T (p.Thr33525Ile)
c.97616C>T (p.Thr32539Ile)
c.79232C>T (p.Thr26411Ile)
c.100727C>T (p.Thr33576Ile)
c.100724C>T (p.Thr33575Ile)
c.100157C>T (p.Thr33386Ile)
c.97499C>T (p.Thr32500Ile)
c.97418C>T (p.Thr32473Ile)
c.79181C>T (p.Thr26394Ile)
c.69035C>T (p.Thr23012Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178530329G>CCA349406312TTN,TTN-AS1c.98582C>G (p.Thr32861Arg)
c.79667C>G (p.Thr26556Arg)
c.79466C>G (p.Thr26489Arg)
c.79091C>G (p.Thr26364Arg)
c.106286C>G (p.Thr35429Arg)
c.101363C>G (p.Thr33788Arg)
n.446+6693G>C
n.220-5403G>C
c.105383C>G (p.Thr35128Arg)
c.79277C>G (p.Thr26426Arg)
c.79136C>G (p.Thr26379Arg)
c.105179C>G (p.Thr35060Arg)
c.100577C>G (p.Thr33526Arg)
c.100574C>G (p.Thr33525Arg)
c.97616C>G (p.Thr32539Arg)
c.79232C>G (p.Thr26411Arg)
c.100727C>G (p.Thr33576Arg)
c.100724C>G (p.Thr33575Arg)
c.100157C>G (p.Thr33386Arg)
c.97499C>G (p.Thr32500Arg)
c.97418C>G (p.Thr32473Arg)
c.79181C>G (p.Thr26394Arg)
c.69035C>G (p.Thr23012Arg)
2g.178530329G=CA1310514518TTN,TTN-AS1c.98582C= (p.Thr32861=)
c.79667C= (p.Thr26556=)
c.79466C= (p.Thr26489=)
c.79091C= (p.Thr26364=)
c.106286C= (p.Thr35429=)
c.101363C= (p.Thr33788=)
n.446+6693G=
n.220-5403G=
c.105383C= (p.Thr35128=)
c.79277C= (p.Thr26426=)
c.79136C= (p.Thr26379=)
c.105179C= (p.Thr35060=)
c.100577C= (p.Thr33526=)
c.100574C= (p.Thr33525=)
c.97616C= (p.Thr32539=)
c.79232C= (p.Thr26411=)
c.100727C= (p.Thr33576=)
c.100724C= (p.Thr33575=)
c.100157C= (p.Thr33386=)
c.97499C= (p.Thr32500=)
c.97418C= (p.Thr32473=)
c.79181C= (p.Thr26394=)
c.69035C= (p.Thr23012=)
2g.178530329G>TCA349406313TTN,TTN-AS1c.98582C>A (p.Thr32861Lys)
c.79667C>A (p.Thr26556Lys)
c.79466C>A (p.Thr26489Lys)
c.79091C>A (p.Thr26364Lys)
c.106286C>A (p.Thr35429Lys)
c.101363C>A (p.Thr33788Lys)
n.446+6693G>T
n.220-5403G>T
c.105383C>A (p.Thr35128Lys)
c.79277C>A (p.Thr26426Lys)
c.79136C>A (p.Thr26379Lys)
c.105179C>A (p.Thr35060Lys)
c.100577C>A (p.Thr33526Lys)
c.100574C>A (p.Thr33525Lys)
c.97616C>A (p.Thr32539Lys)
c.79232C>A (p.Thr26411Lys)
c.100727C>A (p.Thr33576Lys)
c.100724C>A (p.Thr33575Lys)
c.100157C>A (p.Thr33386Lys)
c.97499C>A (p.Thr32500Lys)
c.97418C>A (p.Thr32473Lys)
c.79181C>A (p.Thr26394Lys)
c.69035C>A (p.Thr23012Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178530330T>ACA60953294TTN,TTN-AS1c.98581A>T (p.Thr32861Ser)
c.79666A>T (p.Thr26556Ser)
c.79465A>T (p.Thr26489Ser)
c.79090A>T (p.Thr26364Ser)
c.106285A>T (p.Thr35429Ser)
c.101362A>T (p.Thr33788Ser)
n.446+6694T>A
n.220-5402T>A
c.105382A>T (p.Thr35128Ser)
c.79276A>T (p.Thr26426Ser)
c.79135A>T (p.Thr26379Ser)
c.105178A>T (p.Thr35060Ser)
c.100576A>T (p.Thr33526Ser)
c.100573A>T (p.Thr33525Ser)
c.97615A>T (p.Thr32539Ser)
c.79231A>T (p.Thr26411Ser)
c.100726A>T (p.Thr33576Ser)
c.100723A>T (p.Thr33575Ser)
c.100156A>T (p.Thr33386Ser)
c.97498A>T (p.Thr32500Ser)
c.97417A>T (p.Thr32473Ser)
c.79180A>T (p.Thr26394Ser)
c.69034A>T (p.Thr23012Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178530330T>CCA349406316TTN,TTN-AS1c.98581A>G (p.Thr32861Ala)
c.79666A>G (p.Thr26556Ala)
c.79465A>G (p.Thr26489Ala)
c.79090A>G (p.Thr26364Ala)
c.106285A>G (p.Thr35429Ala)
c.101362A>G (p.Thr33788Ala)
n.446+6694T>C
n.220-5402T>C
c.105382A>G (p.Thr35128Ala)
c.79276A>G (p.Thr26426Ala)
c.79135A>G (p.Thr26379Ala)
c.105178A>G (p.Thr35060Ala)
c.100576A>G (p.Thr33526Ala)
c.100573A>G (p.Thr33525Ala)
c.97615A>G (p.Thr32539Ala)
c.79231A>G (p.Thr26411Ala)
c.100726A>G (p.Thr33576Ala)
c.100723A>G (p.Thr33575Ala)
c.100156A>G (p.Thr33386Ala)
c.97498A>G (p.Thr32500Ala)
c.97417A>G (p.Thr32473Ala)
c.79180A>G (p.Thr26394Ala)
c.69034A>G (p.Thr23012Ala)
 gnomAD v4
2g.178530330T>GCA349406317TTN,TTN-AS1c.98581A>C (p.Thr32861Pro)
c.79666A>C (p.Thr26556Pro)
c.79465A>C (p.Thr26489Pro)
c.79090A>C (p.Thr26364Pro)
c.106285A>C (p.Thr35429Pro)
c.101362A>C (p.Thr33788Pro)
n.446+6694T>G
n.220-5402T>G
c.105382A>C (p.Thr35128Pro)
c.79276A>C (p.Thr26426Pro)
c.79135A>C (p.Thr26379Pro)
c.105178A>C (p.Thr35060Pro)
c.100576A>C (p.Thr33526Pro)
c.100573A>C (p.Thr33525Pro)
c.97615A>C (p.Thr32539Pro)
c.79231A>C (p.Thr26411Pro)
c.100726A>C (p.Thr33576Pro)
c.100723A>C (p.Thr33575Pro)
c.100156A>C (p.Thr33386Pro)
c.97498A>C (p.Thr32500Pro)
c.97417A>C (p.Thr32473Pro)
c.79180A>C (p.Thr26394Pro)
c.69034A>C (p.Thr23012Pro)
2g.178530330T=CA1310514519TTN,TTN-AS1c.98581A= (p.Thr32861=)
c.79666A= (p.Thr26556=)
c.79465A= (p.Thr26489=)
c.79090A= (p.Thr26364=)
c.106285A= (p.Thr35429=)
c.101362A= (p.Thr33788=)
n.446+6694T=
n.220-5402T=
c.105382A= (p.Thr35128=)
c.79276A= (p.Thr26426=)
c.79135A= (p.Thr26379=)
c.105178A= (p.Thr35060=)
c.100576A= (p.Thr33526=)
c.100573A= (p.Thr33525=)
c.97615A= (p.Thr32539=)
c.79231A= (p.Thr26411=)
c.100726A= (p.Thr33576=)
c.100723A= (p.Thr33575=)
c.100156A= (p.Thr33386=)
c.97498A= (p.Thr32500=)
c.97417A= (p.Thr32473=)
c.79180A= (p.Thr26394=)
c.69034A= (p.Thr23012=)
2g.178530331A>CCA349406319TTN,TTN-AS1c.98580T>G (p.Asp32860Glu)
c.79665T>G (p.Asp26555Glu)
c.79464T>G (p.Asp26488Glu)
c.79089T>G (p.Asp26363Glu)
c.106284T>G (p.Asp35428Glu)
c.101361T>G (p.Asp33787Glu)
n.446+6695A>C
n.220-5401A>C
c.105381T>G (p.Asp35127Glu)
c.79275T>G (p.Asp26425Glu)
c.79134T>G (p.Asp26378Glu)
c.105177T>G (p.Asp35059Glu)
c.100575T>G (p.Asp33525Glu)
c.100572T>G (p.Asp33524Glu)
c.97614T>G (p.Asp32538Glu)
c.79230T>G (p.Asp26410Glu)
c.100725T>G (p.Asp33575Glu)
c.100722T>G (p.Asp33574Glu)
c.100155T>G (p.Asp33385Glu)
c.97497T>G (p.Asp32499Glu)
c.97416T>G (p.Asp32472Glu)
c.79179T>G (p.Asp26393Glu)
c.69033T>G (p.Asp23011Glu)
2g.178530331A>GCA430235158TTN,TTN-AS1c.98580T>C (p.Asp32860=)
c.79665T>C (p.Asp26555=)
c.79464T>C (p.Asp26488=)
c.79089T>C (p.Asp26363=)
c.106284T>C (p.Asp35428=)
c.101361T>C (p.Asp33787=)
n.446+6695A>G
n.220-5401A>G
c.105381T>C (p.Asp35127=)
c.79275T>C (p.Asp26425=)
c.79134T>C (p.Asp26378=)
c.105177T>C (p.Asp35059=)
c.100575T>C (p.Asp33525=)
c.100572T>C (p.Asp33524=)
c.97614T>C (p.Asp32538=)
c.79230T>C (p.Asp26410=)
c.100725T>C (p.Asp33575=)
c.100722T>C (p.Asp33574=)
c.100155T>C (p.Asp33385=)
c.97497T>C (p.Asp32499=)
c.97416T>C (p.Asp32472=)
c.79179T>C (p.Asp26393=)
c.69033T>C (p.Asp23011=)
2g.178530331A>TCA349406320TTN,TTN-AS1c.98580T>A (p.Asp32860Glu)
c.79665T>A (p.Asp26555Glu)
c.79464T>A (p.Asp26488Glu)
c.79089T>A (p.Asp26363Glu)
c.106284T>A (p.Asp35428Glu)
c.101361T>A (p.Asp33787Glu)
n.446+6695A>T
n.220-5401A>T
c.105381T>A (p.Asp35127Glu)
c.79275T>A (p.Asp26425Glu)
c.79134T>A (p.Asp26378Glu)
c.105177T>A (p.Asp35059Glu)
c.100575T>A (p.Asp33525Glu)
c.100572T>A (p.Asp33524Glu)
c.97614T>A (p.Asp32538Glu)
c.79230T>A (p.Asp26410Glu)
c.100725T>A (p.Asp33575Glu)
c.100722T>A (p.Asp33574Glu)
c.100155T>A (p.Asp33385Glu)
c.97497T>A (p.Asp32499Glu)
c.97416T>A (p.Asp32472Glu)
c.79179T>A (p.Asp26393Glu)
c.69033T>A (p.Asp23011Glu)
2g.178530332T>ACA1985137TTN,TTN-AS1c.98579A>T (p.Asp32860Val)
c.79664A>T (p.Asp26555Val)
c.79463A>T (p.Asp26488Val)
c.79088A>T (p.Asp26363Val)
c.106283A>T (p.Asp35428Val)
c.101360A>T (p.Asp33787Val)
n.446+6696T>A
n.220-5400T>A
c.105380A>T (p.Asp35127Val)
c.79274A>T (p.Asp26425Val)
c.79133A>T (p.Asp26378Val)
c.105176A>T (p.Asp35059Val)
c.100574A>T (p.Asp33525Val)
c.100571A>T (p.Asp33524Val)
c.97613A>T (p.Asp32538Val)
c.79229A>T (p.Asp26410Val)
c.100724A>T (p.Asp33575Val)
c.100721A>T (p.Asp33574Val)
c.100154A>T (p.Asp33385Val)
c.97496A>T (p.Asp32499Val)
c.97415A>T (p.Asp32472Val)
c.79178A>T (p.Asp26393Val)
c.69032A>T (p.Asp23011Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530332T>CCA349406323TTN,TTN-AS1c.98579A>G (p.Asp32860Gly)
c.79664A>G (p.Asp26555Gly)
c.79463A>G (p.Asp26488Gly)
c.79088A>G (p.Asp26363Gly)
c.106283A>G (p.Asp35428Gly)
c.101360A>G (p.Asp33787Gly)
n.446+6696T>C
n.220-5400T>C
c.105380A>G (p.Asp35127Gly)
c.79274A>G (p.Asp26425Gly)
c.79133A>G (p.Asp26378Gly)
c.105176A>G (p.Asp35059Gly)
c.100574A>G (p.Asp33525Gly)
c.100571A>G (p.Asp33524Gly)
c.97613A>G (p.Asp32538Gly)
c.79229A>G (p.Asp26410Gly)
c.100724A>G (p.Asp33575Gly)
c.100721A>G (p.Asp33574Gly)
c.100154A>G (p.Asp33385Gly)
c.97496A>G (p.Asp32499Gly)
c.97415A>G (p.Asp32472Gly)
c.79178A>G (p.Asp26393Gly)
c.69032A>G (p.Asp23011Gly)
2g.178530332T>GCA349406325TTN,TTN-AS1c.98579A>C (p.Asp32860Ala)
c.79664A>C (p.Asp26555Ala)
c.79463A>C (p.Asp26488Ala)
c.79088A>C (p.Asp26363Ala)
c.106283A>C (p.Asp35428Ala)
c.101360A>C (p.Asp33787Ala)
n.446+6696T>G
n.220-5400T>G
c.105380A>C (p.Asp35127Ala)
c.79274A>C (p.Asp26425Ala)
c.79133A>C (p.Asp26378Ala)
c.105176A>C (p.Asp35059Ala)
c.100574A>C (p.Asp33525Ala)
c.100571A>C (p.Asp33524Ala)
c.97613A>C (p.Asp32538Ala)
c.79229A>C (p.Asp26410Ala)
c.100724A>C (p.Asp33575Ala)
c.100721A>C (p.Asp33574Ala)
c.100154A>C (p.Asp33385Ala)
c.97496A>C (p.Asp32499Ala)
c.97415A>C (p.Asp32472Ala)
c.79178A>C (p.Asp26393Ala)
c.69032A>C (p.Asp23011Ala)
2g.178530332T=CA1310514520TTN,TTN-AS1c.98579A= (p.Asp32860=)
c.79664A= (p.Asp26555=)
c.79463A= (p.Asp26488=)
c.79088A= (p.Asp26363=)
c.106283A= (p.Asp35428=)
c.101360A= (p.Asp33787=)
n.446+6696T=
n.220-5400T=
c.105380A= (p.Asp35127=)
c.79274A= (p.Asp26425=)
c.79133A= (p.Asp26378=)
c.105176A= (p.Asp35059=)
c.100574A= (p.Asp33525=)
c.100571A= (p.Asp33524=)
c.97613A= (p.Asp32538=)
c.79229A= (p.Asp26410=)
c.100724A= (p.Asp33575=)
c.100721A= (p.Asp33574=)
c.100154A= (p.Asp33385=)
c.97496A= (p.Asp32499=)
c.97415A= (p.Asp32472=)
c.79178A= (p.Asp26393=)
c.69032A= (p.Asp23011=)
2g.178530333C>ACA349406328TTN,TTN-AS1c.98578G>T (p.Asp32860Tyr)
c.79663G>T (p.Asp26555Tyr)
c.79462G>T (p.Asp26488Tyr)
c.79087G>T (p.Asp26363Tyr)
c.106282G>T (p.Asp35428Tyr)
c.101359G>T (p.Asp33787Tyr)
n.446+6697C>A
n.220-5399C>A
c.105379G>T (p.Asp35127Tyr)
c.79273G>T (p.Asp26425Tyr)
c.79132G>T (p.Asp26378Tyr)
c.105175G>T (p.Asp35059Tyr)
c.100573G>T (p.Asp33525Tyr)
c.100570G>T (p.Asp33524Tyr)
c.97612G>T (p.Asp32538Tyr)
c.79228G>T (p.Asp26410Tyr)
c.100723G>T (p.Asp33575Tyr)
c.100720G>T (p.Asp33574Tyr)
c.100153G>T (p.Asp33385Tyr)
c.97495G>T (p.Asp32499Tyr)
c.97414G>T (p.Asp32472Tyr)
c.79177G>T (p.Asp26393Tyr)
c.69031G>T (p.Asp23011Tyr)
2g.178530333C>GCA349406330TTN,TTN-AS1c.98578G>C (p.Asp32860His)
c.79663G>C (p.Asp26555His)
c.79462G>C (p.Asp26488His)
c.79087G>C (p.Asp26363His)
c.106282G>C (p.Asp35428His)
c.101359G>C (p.Asp33787His)
n.446+6697C>G
n.220-5399C>G
c.105379G>C (p.Asp35127His)
c.79273G>C (p.Asp26425His)
c.79132G>C (p.Asp26378His)
c.105175G>C (p.Asp35059His)
c.100573G>C (p.Asp33525His)
c.100570G>C (p.Asp33524His)
c.97612G>C (p.Asp32538His)
c.79228G>C (p.Asp26410His)
c.100723G>C (p.Asp33575His)
c.100720G>C (p.Asp33574His)
c.100153G>C (p.Asp33385His)
c.97495G>C (p.Asp32499His)
c.97414G>C (p.Asp32472His)
c.79177G>C (p.Asp26393His)
c.69031G>C (p.Asp23011His)
2g.178530333C>TCA349406327TTN,TTN-AS1c.98578G>A (p.Asp32860Asn)
c.79663G>A (p.Asp26555Asn)
c.79462G>A (p.Asp26488Asn)
c.79087G>A (p.Asp26363Asn)
c.106282G>A (p.Asp35428Asn)
c.101359G>A (p.Asp33787Asn)
n.446+6697C>T
n.220-5399C>T
c.105379G>A (p.Asp35127Asn)
c.79273G>A (p.Asp26425Asn)
c.79132G>A (p.Asp26378Asn)
c.105175G>A (p.Asp35059Asn)
c.100573G>A (p.Asp33525Asn)
c.100570G>A (p.Asp33524Asn)
c.97612G>A (p.Asp32538Asn)
c.79228G>A (p.Asp26410Asn)
c.100723G>A (p.Asp33575Asn)
c.100720G>A (p.Asp33574Asn)
c.100153G>A (p.Asp33385Asn)
c.97495G>A (p.Asp32499Asn)
c.97414G>A (p.Asp32472Asn)
c.79177G>A (p.Asp26393Asn)
c.69031G>A (p.Asp23011Asn)
2g.178530334C>ACA349406333TTN,TTN-AS1c.98577G>T (p.Gln32859His)
c.79662G>T (p.Gln26554His)
c.79461G>T (p.Gln26487His)
c.79086G>T (p.Gln26362His)
c.106281G>T (p.Gln35427His)
c.101358G>T (p.Gln33786His)
n.446+6698C>A
n.220-5398C>A
c.105378G>T (p.Gln35126His)
c.79272G>T (p.Gln26424His)
c.79131G>T (p.Gln26377His)
c.105174G>T (p.Gln35058His)
c.100572G>T (p.Gln33524His)
c.100569G>T (p.Gln33523His)
c.97611G>T (p.Gln32537His)
c.79227G>T (p.Gln26409His)
c.100722G>T (p.Gln33574His)
c.100719G>T (p.Gln33573His)
c.100152G>T (p.Gln33384His)
c.97494G>T (p.Gln32498His)
c.97413G>T (p.Gln32471His)
c.79176G>T (p.Gln26392His)
c.69030G>T (p.Gln23010His)
2g.178530334C>GCA349406331TTN,TTN-AS1c.98577G>C (p.Gln32859His)
c.79662G>C (p.Gln26554His)
c.79461G>C (p.Gln26487His)
c.79086G>C (p.Gln26362His)
c.106281G>C (p.Gln35427His)
c.101358G>C (p.Gln33786His)
n.446+6698C>G
n.220-5398C>G
c.105378G>C (p.Gln35126His)
c.79272G>C (p.Gln26424His)
c.79131G>C (p.Gln26377His)
c.105174G>C (p.Gln35058His)
c.100572G>C (p.Gln33524His)
c.100569G>C (p.Gln33523His)
c.97611G>C (p.Gln32537His)
c.79227G>C (p.Gln26409His)
c.100722G>C (p.Gln33574His)
c.100719G>C (p.Gln33573His)
c.100152G>C (p.Gln33384His)
c.97494G>C (p.Gln32498His)
c.97413G>C (p.Gln32471His)
c.79176G>C (p.Gln26392His)
c.69030G>C (p.Gln23010His)
2g.178530334C>TCA430235164TTN,TTN-AS1c.98577G>A (p.Gln32859=)
c.79662G>A (p.Gln26554=)
c.79461G>A (p.Gln26487=)
c.79086G>A (p.Gln26362=)
c.106281G>A (p.Gln35427=)
c.101358G>A (p.Gln33786=)
n.446+6698C>T
n.220-5398C>T
c.105378G>A (p.Gln35126=)
c.79272G>A (p.Gln26424=)
c.79131G>A (p.Gln26377=)
c.105174G>A (p.Gln35058=)
c.100572G>A (p.Gln33524=)
c.100569G>A (p.Gln33523=)
c.97611G>A (p.Gln32537=)
c.79227G>A (p.Gln26409=)
c.100722G>A (p.Gln33574=)
c.100719G>A (p.Gln33573=)
c.100152G>A (p.Gln33384=)
c.97494G>A (p.Gln32498=)
c.97413G>A (p.Gln32471=)
c.79176G>A (p.Gln26392=)
c.69030G>A (p.Gln23010=)
 gnomAD v4
2g.178530335T>ACA349406338TTN,TTN-AS1c.98576A>T (p.Gln32859Leu)
c.79661A>T (p.Gln26554Leu)
c.79460A>T (p.Gln26487Leu)
c.79085A>T (p.Gln26362Leu)
c.106280A>T (p.Gln35427Leu)
c.101357A>T (p.Gln33786Leu)
n.446+6699T>A
n.220-5397T>A
c.105377A>T (p.Gln35126Leu)
c.79271A>T (p.Gln26424Leu)
c.79130A>T (p.Gln26377Leu)
c.105173A>T (p.Gln35058Leu)
c.100571A>T (p.Gln33524Leu)
c.100568A>T (p.Gln33523Leu)
c.97610A>T (p.Gln32537Leu)
c.79226A>T (p.Gln26409Leu)
c.100721A>T (p.Gln33574Leu)
c.100718A>T (p.Gln33573Leu)
c.100151A>T (p.Gln33384Leu)
c.97493A>T (p.Gln32498Leu)
c.97412A>T (p.Gln32471Leu)
c.79175A>T (p.Gln26392Leu)
c.69029A>T (p.Gln23010Leu)
2g.178530335T>CCA349406335TTN,TTN-AS1c.98576A>G (p.Gln32859Arg)
c.79661A>G (p.Gln26554Arg)
c.79460A>G (p.Gln26487Arg)
c.79085A>G (p.Gln26362Arg)
c.106280A>G (p.Gln35427Arg)
c.101357A>G (p.Gln33786Arg)
n.446+6699T>C
n.220-5397T>C
c.105377A>G (p.Gln35126Arg)
c.79271A>G (p.Gln26424Arg)
c.79130A>G (p.Gln26377Arg)
c.105173A>G (p.Gln35058Arg)
c.100571A>G (p.Gln33524Arg)
c.100568A>G (p.Gln33523Arg)
c.97610A>G (p.Gln32537Arg)
c.79226A>G (p.Gln26409Arg)
c.100721A>G (p.Gln33574Arg)
c.100718A>G (p.Gln33573Arg)
c.100151A>G (p.Gln33384Arg)
c.97493A>G (p.Gln32498Arg)
c.97412A>G (p.Gln32471Arg)
c.79175A>G (p.Gln26392Arg)
c.69029A>G (p.Gln23010Arg)
 gnomAD v4
2g.178530335T>GCA349406337TTN,TTN-AS1c.98576A>C (p.Gln32859Pro)
c.79661A>C (p.Gln26554Pro)
c.79460A>C (p.Gln26487Pro)
c.79085A>C (p.Gln26362Pro)
c.106280A>C (p.Gln35427Pro)
c.101357A>C (p.Gln33786Pro)
n.446+6699T>G
n.220-5397T>G
c.105377A>C (p.Gln35126Pro)
c.79271A>C (p.Gln26424Pro)
c.79130A>C (p.Gln26377Pro)
c.105173A>C (p.Gln35058Pro)
c.100571A>C (p.Gln33524Pro)
c.100568A>C (p.Gln33523Pro)
c.97610A>C (p.Gln32537Pro)
c.79226A>C (p.Gln26409Pro)
c.100721A>C (p.Gln33574Pro)
c.100718A>C (p.Gln33573Pro)
c.100151A>C (p.Gln33384Pro)
c.97493A>C (p.Gln32498Pro)
c.97412A>C (p.Gln32471Pro)
c.79175A>C (p.Gln26392Pro)
c.69029A>C (p.Gln23010Pro)
2g.178530336G>ACA349406340TTN,TTN-AS1c.98575C>T (p.Gln32859Ter)
c.79660C>T (p.Gln26554Ter)
c.79459C>T (p.Gln26487Ter)
c.79084C>T (p.Gln26362Ter)
c.106279C>T (p.Gln35427Ter)
c.101356C>T (p.Gln33786Ter)
n.446+6700G>A
n.220-5396G>A
c.105376C>T (p.Gln35126Ter)
c.79270C>T (p.Gln26424Ter)
c.79129C>T (p.Gln26377Ter)
c.105172C>T (p.Gln35058Ter)
c.100570C>T (p.Gln33524Ter)
c.100567C>T (p.Gln33523Ter)
c.97609C>T (p.Gln32537Ter)
c.79225C>T (p.Gln26409Ter)
c.100720C>T (p.Gln33574Ter)
c.100717C>T (p.Gln33573Ter)
c.100150C>T (p.Gln33384Ter)
c.97492C>T (p.Gln32498Ter)
c.97411C>T (p.Gln32471Ter)
c.79174C>T (p.Gln26392Ter)
c.69028C>T (p.Gln23010Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178530336G>CCA349406342TTN,TTN-AS1c.98575C>G (p.Gln32859Glu)
c.79660C>G (p.Gln26554Glu)
c.79459C>G (p.Gln26487Glu)
c.79084C>G (p.Gln26362Glu)
c.106279C>G (p.Gln35427Glu)
c.101356C>G (p.Gln33786Glu)
n.446+6700G>C
n.220-5396G>C
c.105376C>G (p.Gln35126Glu)
c.79270C>G (p.Gln26424Glu)
c.79129C>G (p.Gln26377Glu)
c.105172C>G (p.Gln35058Glu)
c.100570C>G (p.Gln33524Glu)
c.100567C>G (p.Gln33523Glu)
c.97609C>G (p.Gln32537Glu)
c.79225C>G (p.Gln26409Glu)
c.100720C>G (p.Gln33574Glu)
c.100717C>G (p.Gln33573Glu)
c.100150C>G (p.Gln33384Glu)
c.97492C>G (p.Gln32498Glu)
c.97411C>G (p.Gln32471Glu)
c.79174C>G (p.Gln26392Glu)
c.69028C>G (p.Gln23010Glu)
2g.178530336G=CA1310514522TTN,TTN-AS1c.98575C= (p.Gln32859=)
c.79660C= (p.Gln26554=)
c.79459C= (p.Gln26487=)
c.79084C= (p.Gln26362=)
c.106279C= (p.Gln35427=)
c.101356C= (p.Gln33786=)
n.446+6700G=
n.220-5396G=
c.105376C= (p.Gln35126=)
c.79270C= (p.Gln26424=)
c.79129C= (p.Gln26377=)
c.105172C= (p.Gln35058=)
c.100570C= (p.Gln33524=)
c.100567C= (p.Gln33523=)
c.97609C= (p.Gln32537=)
c.79225C= (p.Gln26409=)
c.100720C= (p.Gln33574=)
c.100717C= (p.Gln33573=)
c.100150C= (p.Gln33384=)
c.97492C= (p.Gln32498=)
c.97411C= (p.Gln32471=)
c.79174C= (p.Gln26392=)
c.69028C= (p.Gln23010=)
2g.178530336G>TCA349406344TTN,TTN-AS1c.98575C>A (p.Gln32859Lys)
c.79660C>A (p.Gln26554Lys)
c.79459C>A (p.Gln26487Lys)
c.79084C>A (p.Gln26362Lys)
c.106279C>A (p.Gln35427Lys)
c.101356C>A (p.Gln33786Lys)
n.446+6700G>T
n.220-5396G>T
c.105376C>A (p.Gln35126Lys)
c.79270C>A (p.Gln26424Lys)
c.79129C>A (p.Gln26377Lys)
c.105172C>A (p.Gln35058Lys)
c.100570C>A (p.Gln33524Lys)
c.100567C>A (p.Gln33523Lys)
c.97609C>A (p.Gln32537Lys)
c.79225C>A (p.Gln26409Lys)
c.100720C>A (p.Gln33574Lys)
c.100717C>A (p.Gln33573Lys)
c.100150C>A (p.Gln33384Lys)
c.97492C>A (p.Gln32498Lys)
c.97411C>A (p.Gln32471Lys)
c.79174C>A (p.Gln26392Lys)
c.69028C>A (p.Gln23010Lys)
2g.178530337C>ACA349406345TTN,TTN-AS1c.98574G>T (p.Leu32858Phe)
c.79659G>T (p.Leu26553Phe)
c.79458G>T (p.Leu26486Phe)
c.79083G>T (p.Leu26361Phe)
c.106278G>T (p.Leu35426Phe)
c.101355G>T (p.Leu33785Phe)
n.446+6701C>A
n.220-5395C>A
c.105375G>T (p.Leu35125Phe)
c.79269G>T (p.Leu26423Phe)
c.79128G>T (p.Leu26376Phe)
c.105171G>T (p.Leu35057Phe)
c.100569G>T (p.Leu33523Phe)
c.100566G>T (p.Leu33522Phe)
c.97608G>T (p.Leu32536Phe)
c.79224G>T (p.Leu26408Phe)
c.100719G>T (p.Leu33573Phe)
c.100716G>T (p.Leu33572Phe)
c.100149G>T (p.Leu33383Phe)
c.97491G>T (p.Leu32497Phe)
c.97410G>T (p.Leu32470Phe)
c.79173G>T (p.Leu26391Phe)
c.69027G>T (p.Leu23009Phe)
2g.178530337C>GCA349406347TTN,TTN-AS1c.98574G>C (p.Leu32858Phe)
c.79659G>C (p.Leu26553Phe)
c.79458G>C (p.Leu26486Phe)
c.79083G>C (p.Leu26361Phe)
c.106278G>C (p.Leu35426Phe)
c.101355G>C (p.Leu33785Phe)
n.446+6701C>G
n.220-5395C>G
c.105375G>C (p.Leu35125Phe)
c.79269G>C (p.Leu26423Phe)
c.79128G>C (p.Leu26376Phe)
c.105171G>C (p.Leu35057Phe)
c.100569G>C (p.Leu33523Phe)
c.100566G>C (p.Leu33522Phe)
c.97608G>C (p.Leu32536Phe)
c.79224G>C (p.Leu26408Phe)
c.100719G>C (p.Leu33573Phe)
c.100716G>C (p.Leu33572Phe)
c.100149G>C (p.Leu33383Phe)
c.97491G>C (p.Leu32497Phe)
c.97410G>C (p.Leu32470Phe)
c.79173G>C (p.Leu26391Phe)
c.69027G>C (p.Leu23009Phe)
2g.178530337C>TCA430235167TTN,TTN-AS1c.98574G>A (p.Leu32858=)
c.79659G>A (p.Leu26553=)
c.79458G>A (p.Leu26486=)
c.79083G>A (p.Leu26361=)
c.106278G>A (p.Leu35426=)
c.101355G>A (p.Leu33785=)
n.446+6701C>T
n.220-5395C>T
c.105375G>A (p.Leu35125=)
c.79269G>A (p.Leu26423=)
c.79128G>A (p.Leu26376=)
c.105171G>A (p.Leu35057=)
c.100569G>A (p.Leu33523=)
c.100566G>A (p.Leu33522=)
c.97608G>A (p.Leu32536=)
c.79224G>A (p.Leu26408=)
c.100719G>A (p.Leu33573=)
c.100716G>A (p.Leu33572=)
c.100149G>A (p.Leu33383=)
c.97491G>A (p.Leu32497=)
c.97410G>A (p.Leu32470=)
c.79173G>A (p.Leu26391=)
c.69027G>A (p.Leu23009=)
2g.178530337_178530338dupCA1039711495TTN,TTN-AS1c.98573_98574dup (p.Gln32859CysfsTer?)
c.79658_79659dup (p.Gln26554CysfsTer?)
c.79457_79458dup (p.Gln26487CysfsTer?)
c.79082_79083dup (p.Gln26362CysfsTer?)
c.106277_106278dup (p.Gln35427CysfsTer?)
c.101354_101355dup (p.Gln33786CysfsTer?)
n.446+6701_446+6702dup
n.220-5395_220-5394dup
c.105374_105375dup (p.Gln35126CysfsTer?)
c.79268_79269dup (p.Gln26424CysfsTer?)
c.79127_79128dup (p.Gln26377CysfsTer?)
c.105170_105171dup (p.Gln35058CysfsTer?)
c.100568_100569dup (p.Gln33524CysfsTer?)
c.100565_100566dup (p.Gln33523CysfsTer?)
c.97607_97608dup (p.Gln32537CysfsTer?)
c.79223_79224dup (p.Gln26409CysfsTer?)
c.100718_100719dup (p.Gln33574CysfsTer?)
c.100715_100716dup (p.Gln33573CysfsTer?)
c.100148_100149dup (p.Gln33384CysfsTer?)
c.97490_97491dup (p.Gln32498CysfsTer?)
c.97409_97410dup (p.Gln32471CysfsTer?)
c.79172_79173dup (p.Gln26392CysfsTer?)
c.69026_69027dup (p.Gln23010CysfsTer?)
 dbSNP gnomAD v3 gnomAD v4
2g.178530338A>CCA349406349TTN,TTN-AS1c.98573T>G (p.Leu32858Trp)
c.79658T>G (p.Leu26553Trp)
c.79457T>G (p.Leu26486Trp)
c.79082T>G (p.Leu26361Trp)
c.106277T>G (p.Leu35426Trp)
c.101354T>G (p.Leu33785Trp)
n.446+6702A>C
n.220-5394A>C
c.105374T>G (p.Leu35125Trp)
c.79268T>G (p.Leu26423Trp)
c.79127T>G (p.Leu26376Trp)
c.105170T>G (p.Leu35057Trp)
c.100568T>G (p.Leu33523Trp)
c.100565T>G (p.Leu33522Trp)
c.97607T>G (p.Leu32536Trp)
c.79223T>G (p.Leu26408Trp)
c.100718T>G (p.Leu33573Trp)
c.100715T>G (p.Leu33572Trp)
c.100148T>G (p.Leu33383Trp)
c.97490T>G (p.Leu32497Trp)
c.97409T>G (p.Leu32470Trp)
c.79172T>G (p.Leu26391Trp)
c.69026T>G (p.Leu23009Trp)
2g.178530338A>GCA349406351TTN,TTN-AS1c.98573T>C (p.Leu32858Ser)
c.79658T>C (p.Leu26553Ser)
c.79457T>C (p.Leu26486Ser)
c.79082T>C (p.Leu26361Ser)
c.106277T>C (p.Leu35426Ser)
c.101354T>C (p.Leu33785Ser)
n.446+6702A>G
n.220-5394A>G
c.105374T>C (p.Leu35125Ser)
c.79268T>C (p.Leu26423Ser)
c.79127T>C (p.Leu26376Ser)
c.105170T>C (p.Leu35057Ser)
c.100568T>C (p.Leu33523Ser)
c.100565T>C (p.Leu33522Ser)
c.97607T>C (p.Leu32536Ser)
c.79223T>C (p.Leu26408Ser)
c.100718T>C (p.Leu33573Ser)
c.100715T>C (p.Leu33572Ser)
c.100148T>C (p.Leu33383Ser)
c.97490T>C (p.Leu32497Ser)
c.97409T>C (p.Leu32470Ser)
c.79172T>C (p.Leu26391Ser)
c.69026T>C (p.Leu23009Ser)
 gnomAD v4
2g.178530338A>TCA349406353TTN,TTN-AS1c.98573T>A (p.Leu32858Ter)
c.79658T>A (p.Leu26553Ter)
c.79457T>A (p.Leu26486Ter)
c.79082T>A (p.Leu26361Ter)
c.106277T>A (p.Leu35426Ter)
c.101354T>A (p.Leu33785Ter)
n.446+6702A>T
n.220-5394A>T
c.105374T>A (p.Leu35125Ter)
c.79268T>A (p.Leu26423Ter)
c.79127T>A (p.Leu26376Ter)
c.105170T>A (p.Leu35057Ter)
c.100568T>A (p.Leu33523Ter)
c.100565T>A (p.Leu33522Ter)
c.97607T>A (p.Leu32536Ter)
c.79223T>A (p.Leu26408Ter)
c.100718T>A (p.Leu33573Ter)
c.100715T>A (p.Leu33572Ter)
c.100148T>A (p.Leu33383Ter)
c.97490T>A (p.Leu32497Ter)
c.97409T>A (p.Leu32470Ter)
c.79172T>A (p.Leu26391Ter)
c.69026T>A (p.Leu23009Ter)
2g.178530339delCA2662125679TTN,TTN-AS1c.98573del (p.Leu32858CysfsTer?)
c.79658del (p.Leu26553CysfsTer?)
c.79457del (p.Leu26486CysfsTer?)
c.79082del (p.Leu26361CysfsTer?)
c.106277del (p.Leu35426CysfsTer?)
c.101354del (p.Leu33785CysfsTer?)
n.446+6703del
n.220-5393del
c.105374del (p.Leu35125CysfsTer?)
c.79268del (p.Leu26423CysfsTer?)
c.79127del (p.Leu26376CysfsTer?)
c.105170del (p.Leu35057CysfsTer?)
c.100568del (p.Leu33523CysfsTer?)
c.100565del (p.Leu33522CysfsTer?)
c.97607del (p.Leu32536CysfsTer?)
c.79223del (p.Leu26408CysfsTer?)
c.100718del (p.Leu33573CysfsTer?)
c.100715del (p.Leu33572CysfsTer?)
c.100148del (p.Leu33383CysfsTer?)
c.97490del (p.Leu32497CysfsTer?)
c.97409del (p.Leu32470CysfsTer?)
c.79172del (p.Leu26391CysfsTer?)
c.69026del (p.Leu23009CysfsTer?)
 gnomAD v4
2g.178530339A=CA1310514525TTN,TTN-AS1c.98572T= (p.Leu32858=)
c.79657T= (p.Leu26553=)
c.79456T= (p.Leu26486=)
c.79081T= (p.Leu26361=)
c.106276T= (p.Leu35426=)
c.101353T= (p.Leu33785=)
n.446+6703A=
n.220-5393A=
c.105373T= (p.Leu35125=)
c.79267T= (p.Leu26423=)
c.79126T= (p.Leu26376=)
c.105169T= (p.Leu35057=)
c.100567T= (p.Leu33523=)
c.100564T= (p.Leu33522=)
c.97606T= (p.Leu32536=)
c.79222T= (p.Leu26408=)
c.100717T= (p.Leu33573=)
c.100714T= (p.Leu33572=)
c.100147T= (p.Leu33383=)
c.97489T= (p.Leu32497=)
c.97408T= (p.Leu32470=)
c.79171T= (p.Leu26391=)
c.69025T= (p.Leu23009=)
2g.178530339A>CCA349406354TTN,TTN-AS1c.98572T>G (p.Leu32858Val)
c.79657T>G (p.Leu26553Val)
c.79456T>G (p.Leu26486Val)
c.79081T>G (p.Leu26361Val)
c.106276T>G (p.Leu35426Val)
c.101353T>G (p.Leu33785Val)
n.446+6703A>C
n.220-5393A>C
c.105373T>G (p.Leu35125Val)
c.79267T>G (p.Leu26423Val)
c.79126T>G (p.Leu26376Val)
c.105169T>G (p.Leu35057Val)
c.100567T>G (p.Leu33523Val)
c.100564T>G (p.Leu33522Val)
c.97606T>G (p.Leu32536Val)
c.79222T>G (p.Leu26408Val)
c.100717T>G (p.Leu33573Val)
c.100714T>G (p.Leu33572Val)
c.100147T>G (p.Leu33383Val)
c.97489T>G (p.Leu32497Val)
c.97408T>G (p.Leu32470Val)
c.79171T>G (p.Leu26391Val)
c.69025T>G (p.Leu23009Val)
 dbSNP
2g.178530339A>GCA430235169TTN,TTN-AS1c.98572T>C (p.Leu32858=)
c.79657T>C (p.Leu26553=)
c.79456T>C (p.Leu26486=)
c.79081T>C (p.Leu26361=)
c.106276T>C (p.Leu35426=)
c.101353T>C (p.Leu33785=)
n.446+6703A>G
n.220-5393A>G
c.105373T>C (p.Leu35125=)
c.79267T>C (p.Leu26423=)
c.79126T>C (p.Leu26376=)
c.105169T>C (p.Leu35057=)
c.100567T>C (p.Leu33523=)
c.100564T>C (p.Leu33522=)
c.97606T>C (p.Leu32536=)
c.79222T>C (p.Leu26408=)
c.100717T>C (p.Leu33573=)
c.100714T>C (p.Leu33572=)
c.100147T>C (p.Leu33383=)
c.97489T>C (p.Leu32497=)
c.97408T>C (p.Leu32470=)
c.79171T>C (p.Leu26391=)
c.69025T>C (p.Leu23009=)
2g.178530339A>TCA349406356TTN,TTN-AS1c.98572T>A (p.Leu32858Met)
c.79657T>A (p.Leu26553Met)
c.79456T>A (p.Leu26486Met)
c.79081T>A (p.Leu26361Met)
c.106276T>A (p.Leu35426Met)
c.101353T>A (p.Leu33785Met)
n.446+6703A>T
n.220-5393A>T
c.105373T>A (p.Leu35125Met)
c.79267T>A (p.Leu26423Met)
c.79126T>A (p.Leu26376Met)
c.105169T>A (p.Leu35057Met)
c.100567T>A (p.Leu33523Met)
c.100564T>A (p.Leu33522Met)
c.97606T>A (p.Leu32536Met)
c.79222T>A (p.Leu26408Met)
c.100717T>A (p.Leu33573Met)
c.100714T>A (p.Leu33572Met)
c.100147T>A (p.Leu33383Met)
c.97489T>A (p.Leu32497Met)
c.97408T>A (p.Leu32470Met)
c.79171T>A (p.Leu26391Met)
c.69025T>A (p.Leu23009Met)
2g.178530340C>ACA430235171TTN,TTN-AS1c.98571G>T (p.Gly32857=)
c.79656G>T (p.Gly26552=)
c.79455G>T (p.Gly26485=)
c.79080G>T (p.Gly26360=)
c.106275G>T (p.Gly35425=)
c.101352G>T (p.Gly33784=)
n.446+6704C>A
n.220-5392C>A
c.105372G>T (p.Gly35124=)
c.79266G>T (p.Gly26422=)
c.79125G>T (p.Gly26375=)
c.105168G>T (p.Gly35056=)
c.100566G>T (p.Gly33522=)
c.100563G>T (p.Gly33521=)
c.97605G>T (p.Gly32535=)
c.79221G>T (p.Gly26407=)
c.100716G>T (p.Gly33572=)
c.100713G>T (p.Gly33571=)
c.100146G>T (p.Gly33382=)
c.97488G>T (p.Gly32496=)
c.97407G>T (p.Gly32469=)
c.79170G>T (p.Gly26390=)
c.69024G>T (p.Gly23008=)
2g.178530340C=CA1310514529TTN,TTN-AS1c.98571G= (p.Gly32857=)
c.79656G= (p.Gly26552=)
c.79455G= (p.Gly26485=)
c.79080G= (p.Gly26360=)
c.106275G= (p.Gly35425=)
c.101352G= (p.Gly33784=)
n.446+6704C=
n.220-5392C=
c.105372G= (p.Gly35124=)
c.79266G= (p.Gly26422=)
c.79125G= (p.Gly26375=)
c.105168G= (p.Gly35056=)
c.100566G= (p.Gly33522=)
c.100563G= (p.Gly33521=)
c.97605G= (p.Gly32535=)
c.79221G= (p.Gly26407=)
c.100716G= (p.Gly33572=)
c.100713G= (p.Gly33571=)
c.100146G= (p.Gly33382=)
c.97488G= (p.Gly32496=)
c.97407G= (p.Gly32469=)
c.79170G= (p.Gly26390=)
c.69024G= (p.Gly23008=)
2g.178530340C>GCA284370TTN,TTN-AS1c.98571G>C (p.Gly32857=)
c.79656G>C (p.Gly26552=)
c.79455G>C (p.Gly26485=)
c.79080G>C (p.Gly26360=)
c.106275G>C (p.Gly35425=)
c.101352G>C (p.Gly33784=)
n.446+6704C>G
n.220-5392C>G
c.105372G>C (p.Gly35124=)
c.79266G>C (p.Gly26422=)
c.79125G>C (p.Gly26375=)
c.105168G>C (p.Gly35056=)
c.100566G>C (p.Gly33522=)
c.100563G>C (p.Gly33521=)
c.97605G>C (p.Gly32535=)
c.79221G>C (p.Gly26407=)
c.100716G>C (p.Gly33572=)
c.100713G>C (p.Gly33571=)
c.100146G>C (p.Gly33382=)
c.97488G>C (p.Gly32496=)
c.97407G>C (p.Gly32469=)
c.79170G>C (p.Gly26390=)
c.69024G>C (p.Gly23008=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530340C>TCA430235174TTN,TTN-AS1c.98571G>A (p.Gly32857=)
c.79656G>A (p.Gly26552=)
c.79455G>A (p.Gly26485=)
c.79080G>A (p.Gly26360=)
c.106275G>A (p.Gly35425=)
c.101352G>A (p.Gly33784=)
n.446+6704C>T
n.220-5392C>T
c.105372G>A (p.Gly35124=)
c.79266G>A (p.Gly26422=)
c.79125G>A (p.Gly26375=)
c.105168G>A (p.Gly35056=)
c.100566G>A (p.Gly33522=)
c.100563G>A (p.Gly33521=)
c.97605G>A (p.Gly32535=)
c.79221G>A (p.Gly26407=)
c.100716G>A (p.Gly33572=)
c.100713G>A (p.Gly33571=)
c.100146G>A (p.Gly33382=)
c.97488G>A (p.Gly32496=)
c.97407G>A (p.Gly32469=)
c.79170G>A (p.Gly26390=)
c.69024G>A (p.Gly23008=)
 gnomAD v4
2g.178530342delCA2662125685TTN,TTN-AS1c.98571del (p.Leu32858CysfsTer?)
c.79656del (p.Leu26553CysfsTer?)
c.79455del (p.Leu26486CysfsTer?)
c.79080del (p.Leu26361CysfsTer?)
c.106275del (p.Leu35426CysfsTer?)
c.101352del (p.Leu33785CysfsTer?)
n.446+6706del
n.220-5390del
c.105372del (p.Leu35125CysfsTer?)
c.79266del (p.Leu26423CysfsTer?)
c.79125del (p.Leu26376CysfsTer?)
c.105168del (p.Leu35057CysfsTer?)
c.100566del (p.Leu33523CysfsTer?)
c.100563del (p.Leu33522CysfsTer?)
c.97605del (p.Leu32536CysfsTer?)
c.79221del (p.Leu26408CysfsTer?)
c.100716del (p.Leu33573CysfsTer?)
c.100713del (p.Leu33572CysfsTer?)
c.100146del (p.Leu33383CysfsTer?)
c.97488del (p.Leu32497CysfsTer?)
c.97407del (p.Leu32470CysfsTer?)
c.79170del (p.Leu26391CysfsTer?)
c.69024del (p.Leu23009CysfsTer?)
 gnomAD v4
2g.178530341C>ACA349406358TTN,TTN-AS1c.98570G>T (p.Gly32857Val)
c.79655G>T (p.Gly26552Val)
c.79454G>T (p.Gly26485Val)
c.79079G>T (p.Gly26360Val)
c.106274G>T (p.Gly35425Val)
c.101351G>T (p.Gly33784Val)
n.446+6705C>A
n.220-5391C>A
c.105371G>T (p.Gly35124Val)
c.79265G>T (p.Gly26422Val)
c.79124G>T (p.Gly26375Val)
c.105167G>T (p.Gly35056Val)
c.100565G>T (p.Gly33522Val)
c.100562G>T (p.Gly33521Val)
c.97604G>T (p.Gly32535Val)
c.79220G>T (p.Gly26407Val)
c.100715G>T (p.Gly33572Val)
c.100712G>T (p.Gly33571Val)
c.100145G>T (p.Gly33382Val)
c.97487G>T (p.Gly32496Val)
c.97406G>T (p.Gly32469Val)
c.79169G>T (p.Gly26390Val)
c.69023G>T (p.Gly23008Val)
2g.178530341C=CA1310514532TTN,TTN-AS1c.98570G= (p.Gly32857=)
c.79655G= (p.Gly26552=)
c.79454G= (p.Gly26485=)
c.79079G= (p.Gly26360=)
c.106274G= (p.Gly35425=)
c.101351G= (p.Gly33784=)
n.446+6705C=
n.220-5391C=
c.105371G= (p.Gly35124=)
c.79265G= (p.Gly26422=)
c.79124G= (p.Gly26375=)
c.105167G= (p.Gly35056=)
c.100565G= (p.Gly33522=)
c.100562G= (p.Gly33521=)
c.97604G= (p.Gly32535=)
c.79220G= (p.Gly26407=)
c.100715G= (p.Gly33572=)
c.100712G= (p.Gly33571=)
c.100145G= (p.Gly33382=)
c.97487G= (p.Gly32496=)
c.97406G= (p.Gly32469=)
c.79169G= (p.Gly26390=)
c.69023G= (p.Gly23008=)
2g.178530341C>GCA349406360TTN,TTN-AS1c.98570G>C (p.Gly32857Ala)
c.79655G>C (p.Gly26552Ala)
c.79454G>C (p.Gly26485Ala)
c.79079G>C (p.Gly26360Ala)
c.106274G>C (p.Gly35425Ala)
c.101351G>C (p.Gly33784Ala)
n.446+6705C>G
n.220-5391C>G
c.105371G>C (p.Gly35124Ala)
c.79265G>C (p.Gly26422Ala)
c.79124G>C (p.Gly26375Ala)
c.105167G>C (p.Gly35056Ala)
c.100565G>C (p.Gly33522Ala)
c.100562G>C (p.Gly33521Ala)
c.97604G>C (p.Gly32535Ala)
c.79220G>C (p.Gly26407Ala)
c.100715G>C (p.Gly33572Ala)
c.100712G>C (p.Gly33571Ala)
c.100145G>C (p.Gly33382Ala)
c.97487G>C (p.Gly32496Ala)
c.97406G>C (p.Gly32469Ala)
c.79169G>C (p.Gly26390Ala)
c.69023G>C (p.Gly23008Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.178530341C>TCA349406359TTN,TTN-AS1c.98570G>A (p.Gly32857Glu)
c.79655G>A (p.Gly26552Glu)
c.79454G>A (p.Gly26485Glu)
c.79079G>A (p.Gly26360Glu)
c.106274G>A (p.Gly35425Glu)
c.101351G>A (p.Gly33784Glu)
n.446+6705C>T
n.220-5391C>T
c.105371G>A (p.Gly35124Glu)
c.79265G>A (p.Gly26422Glu)
c.79124G>A (p.Gly26375Glu)
c.105167G>A (p.Gly35056Glu)
c.100565G>A (p.Gly33522Glu)
c.100562G>A (p.Gly33521Glu)
c.97604G>A (p.Gly32535Glu)
c.79220G>A (p.Gly26407Glu)
c.100715G>A (p.Gly33572Glu)
c.100712G>A (p.Gly33571Glu)
c.100145G>A (p.Gly33382Glu)
c.97487G>A (p.Gly32496Glu)
c.97406G>A (p.Gly32469Glu)
c.79169G>A (p.Gly26390Glu)
c.69023G>A (p.Gly23008Glu)
 ClinVar dbSNP
2g.178530342C>ACA349406362TTN,TTN-AS1c.98569G>T (p.Gly32857Trp)
c.79654G>T (p.Gly26552Trp)
c.79453G>T (p.Gly26485Trp)
c.79078G>T (p.Gly26360Trp)
c.106273G>T (p.Gly35425Trp)
c.101350G>T (p.Gly33784Trp)
n.446+6706C>A
n.220-5390C>A
c.105370G>T (p.Gly35124Trp)
c.79264G>T (p.Gly26422Trp)
c.79123G>T (p.Gly26375Trp)
c.105166G>T (p.Gly35056Trp)
c.100564G>T (p.Gly33522Trp)
c.100561G>T (p.Gly33521Trp)
c.97603G>T (p.Gly32535Trp)
c.79219G>T (p.Gly26407Trp)
c.100714G>T (p.Gly33572Trp)
c.100711G>T (p.Gly33571Trp)
c.100144G>T (p.Gly33382Trp)
c.97486G>T (p.Gly32496Trp)
c.97405G>T (p.Gly32469Trp)
c.79168G>T (p.Gly26390Trp)
c.69022G>T (p.Gly23008Trp)
2g.178530342C=CA1310514534TTN,TTN-AS1c.98569G= (p.Gly32857=)
c.79654G= (p.Gly26552=)
c.79453G= (p.Gly26485=)
c.79078G= (p.Gly26360=)
c.106273G= (p.Gly35425=)
c.101350G= (p.Gly33784=)
n.446+6706C=
n.220-5390C=
c.105370G= (p.Gly35124=)
c.79264G= (p.Gly26422=)
c.79123G= (p.Gly26375=)
c.105166G= (p.Gly35056=)
c.100564G= (p.Gly33522=)
c.100561G= (p.Gly33521=)
c.97603G= (p.Gly32535=)
c.79219G= (p.Gly26407=)
c.100714G= (p.Gly33572=)
c.100711G= (p.Gly33571=)
c.100144G= (p.Gly33382=)
c.97486G= (p.Gly32496=)
c.97405G= (p.Gly32469=)
c.79168G= (p.Gly26390=)
c.69022G= (p.Gly23008=)
2g.178530342C>GCA1985138TTN,TTN-AS1c.98569G>C (p.Gly32857Arg)
c.79654G>C (p.Gly26552Arg)
c.79453G>C (p.Gly26485Arg)
c.79078G>C (p.Gly26360Arg)
c.106273G>C (p.Gly35425Arg)
c.101350G>C (p.Gly33784Arg)
n.446+6706C>G
n.220-5390C>G
c.105370G>C (p.Gly35124Arg)
c.79264G>C (p.Gly26422Arg)
c.79123G>C (p.Gly26375Arg)
c.105166G>C (p.Gly35056Arg)
c.100564G>C (p.Gly33522Arg)
c.100561G>C (p.Gly33521Arg)
c.97603G>C (p.Gly32535Arg)
c.79219G>C (p.Gly26407Arg)
c.100714G>C (p.Gly33572Arg)
c.100711G>C (p.Gly33571Arg)
c.100144G>C (p.Gly33382Arg)
c.97486G>C (p.Gly32496Arg)
c.97405G>C (p.Gly32469Arg)
c.79168G>C (p.Gly26390Arg)
c.69022G>C (p.Gly23008Arg)
 dbSNP ExAC gnomAD v2
2g.178530342C>TCA349406365TTN,TTN-AS1c.98569G>A (p.Gly32857Arg)
c.79654G>A (p.Gly26552Arg)
c.79453G>A (p.Gly26485Arg)
c.79078G>A (p.Gly26360Arg)
c.106273G>A (p.Gly35425Arg)
c.101350G>A (p.Gly33784Arg)
n.446+6706C>T
n.220-5390C>T
c.105370G>A (p.Gly35124Arg)
c.79264G>A (p.Gly26422Arg)
c.79123G>A (p.Gly26375Arg)
c.105166G>A (p.Gly35056Arg)
c.100564G>A (p.Gly33522Arg)
c.100561G>A (p.Gly33521Arg)
c.97603G>A (p.Gly32535Arg)
c.79219G>A (p.Gly26407Arg)
c.100714G>A (p.Gly33572Arg)
c.100711G>A (p.Gly33571Arg)
c.100144G>A (p.Gly33382Arg)
c.97486G>A (p.Gly32496Arg)
c.97405G>A (p.Gly32469Arg)
c.79168G>A (p.Gly26390Arg)
c.69022G>A (p.Gly23008Arg)
 ClinVar
2g.178530343A=CA1310514536TTN,TTN-AS1c.98568T= (p.Thr32856=)
c.79653T= (p.Thr26551=)
c.79452T= (p.Thr26484=)
c.79077T= (p.Thr26359=)
c.106272T= (p.Thr35424=)
c.101349T= (p.Thr33783=)
n.446+6707A=
n.220-5389A=
c.105369T= (p.Thr35123=)
c.79263T= (p.Thr26421=)
c.79122T= (p.Thr26374=)
c.105165T= (p.Thr35055=)
c.100563T= (p.Thr33521=)
c.100560T= (p.Thr33520=)
c.97602T= (p.Thr32534=)
c.79218T= (p.Thr26406=)
c.100713T= (p.Thr33571=)
c.100710T= (p.Thr33570=)
c.100143T= (p.Thr33381=)
c.97485T= (p.Thr32495=)
c.97404T= (p.Thr32468=)
c.79167T= (p.Thr26389=)
c.69021T= (p.Thr23007=)
2g.178530343A>CCA1985139TTN,TTN-AS1c.98568T>G (p.Thr32856=)
c.79653T>G (p.Thr26551=)
c.79452T>G (p.Thr26484=)
c.79077T>G (p.Thr26359=)
c.106272T>G (p.Thr35424=)
c.101349T>G (p.Thr33783=)
n.446+6707A>C
n.220-5389A>C
c.105369T>G (p.Thr35123=)
c.79263T>G (p.Thr26421=)
c.79122T>G (p.Thr26374=)
c.105165T>G (p.Thr35055=)
c.100563T>G (p.Thr33521=)
c.100560T>G (p.Thr33520=)
c.97602T>G (p.Thr32534=)
c.79218T>G (p.Thr26406=)
c.100713T>G (p.Thr33571=)
c.100710T>G (p.Thr33570=)
c.100143T>G (p.Thr33381=)
c.97485T>G (p.Thr32495=)
c.97404T>G (p.Thr32468=)
c.79167T>G (p.Thr26389=)
c.69021T>G (p.Thr23007=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530343A>GCA430235179TTN,TTN-AS1c.98568T>C (p.Thr32856=)
c.79653T>C (p.Thr26551=)
c.79452T>C (p.Thr26484=)
c.79077T>C (p.Thr26359=)
c.106272T>C (p.Thr35424=)
c.101349T>C (p.Thr33783=)
n.446+6707A>G
n.220-5389A>G
c.105369T>C (p.Thr35123=)
c.79263T>C (p.Thr26421=)
c.79122T>C (p.Thr26374=)
c.105165T>C (p.Thr35055=)
c.100563T>C (p.Thr33521=)
c.100560T>C (p.Thr33520=)
c.97602T>C (p.Thr32534=)
c.79218T>C (p.Thr26406=)
c.100713T>C (p.Thr33571=)
c.100710T>C (p.Thr33570=)
c.100143T>C (p.Thr33381=)
c.97485T>C (p.Thr32495=)
c.97404T>C (p.Thr32468=)
c.79167T>C (p.Thr26389=)
c.69021T>C (p.Thr23007=)
 gnomAD v4
2g.178530343A>TCA430235181TTN,TTN-AS1c.98568T>A (p.Thr32856=)
c.79653T>A (p.Thr26551=)
c.79452T>A (p.Thr26484=)
c.79077T>A (p.Thr26359=)
c.106272T>A (p.Thr35424=)
c.101349T>A (p.Thr33783=)
n.446+6707A>T
n.220-5389A>T
c.105369T>A (p.Thr35123=)
c.79263T>A (p.Thr26421=)
c.79122T>A (p.Thr26374=)
c.105165T>A (p.Thr35055=)
c.100563T>A (p.Thr33521=)
c.100560T>A (p.Thr33520=)
c.97602T>A (p.Thr32534=)
c.79218T>A (p.Thr26406=)
c.100713T>A (p.Thr33571=)
c.100710T>A (p.Thr33570=)
c.100143T>A (p.Thr33381=)
c.97485T>A (p.Thr32495=)
c.97404T>A (p.Thr32468=)
c.79167T>A (p.Thr26389=)
c.69021T>A (p.Thr23007=)
 ClinVar
2g.178530344G>ACA349406367TTN,TTN-AS1c.98567C>T (p.Thr32856Ile)
c.79652C>T (p.Thr26551Ile)
c.79451C>T (p.Thr26484Ile)
c.79076C>T (p.Thr26359Ile)
c.106271C>T (p.Thr35424Ile)
c.101348C>T (p.Thr33783Ile)
n.446+6708G>A
n.220-5388G>A
c.105368C>T (p.Thr35123Ile)
c.79262C>T (p.Thr26421Ile)
c.79121C>T (p.Thr26374Ile)
c.105164C>T (p.Thr35055Ile)
c.100562C>T (p.Thr33521Ile)
c.100559C>T (p.Thr33520Ile)
c.97601C>T (p.Thr32534Ile)
c.79217C>T (p.Thr26406Ile)
c.100712C>T (p.Thr33571Ile)
c.100709C>T (p.Thr33570Ile)
c.100142C>T (p.Thr33381Ile)
c.97484C>T (p.Thr32495Ile)
c.97403C>T (p.Thr32468Ile)
c.79166C>T (p.Thr26389Ile)
c.69020C>T (p.Thr23007Ile)
2g.178530344G>CCA349406369TTN,TTN-AS1c.98567C>G (p.Thr32856Ser)
c.79652C>G (p.Thr26551Ser)
c.79451C>G (p.Thr26484Ser)
c.79076C>G (p.Thr26359Ser)
c.106271C>G (p.Thr35424Ser)
c.101348C>G (p.Thr33783Ser)
n.446+6708G>C
n.220-5388G>C
c.105368C>G (p.Thr35123Ser)
c.79262C>G (p.Thr26421Ser)
c.79121C>G (p.Thr26374Ser)
c.105164C>G (p.Thr35055Ser)
c.100562C>G (p.Thr33521Ser)
c.100559C>G (p.Thr33520Ser)
c.97601C>G (p.Thr32534Ser)
c.79217C>G (p.Thr26406Ser)
c.100712C>G (p.Thr33571Ser)
c.100709C>G (p.Thr33570Ser)
c.100142C>G (p.Thr33381Ser)
c.97484C>G (p.Thr32495Ser)
c.97403C>G (p.Thr32468Ser)
c.79166C>G (p.Thr26389Ser)
c.69020C>G (p.Thr23007Ser)
2g.178530344G>TCA349406370TTN,TTN-AS1c.98567C>A (p.Thr32856Asn)
c.79652C>A (p.Thr26551Asn)
c.79451C>A (p.Thr26484Asn)
c.79076C>A (p.Thr26359Asn)
c.106271C>A (p.Thr35424Asn)
c.101348C>A (p.Thr33783Asn)
n.446+6708G>T
n.220-5388G>T
c.105368C>A (p.Thr35123Asn)
c.79262C>A (p.Thr26421Asn)
c.79121C>A (p.Thr26374Asn)
c.105164C>A (p.Thr35055Asn)
c.100562C>A (p.Thr33521Asn)
c.100559C>A (p.Thr33520Asn)
c.97601C>A (p.Thr32534Asn)
c.79217C>A (p.Thr26406Asn)
c.100712C>A (p.Thr33571Asn)
c.100709C>A (p.Thr33570Asn)
c.100142C>A (p.Thr33381Asn)
c.97484C>A (p.Thr32495Asn)
c.97403C>A (p.Thr32468Asn)
c.79166C>A (p.Thr26389Asn)
c.69020C>A (p.Thr23007Asn)
2g.178530346_178530358delCA2577170311TTN,TTN-AS1c.98555_98567del (p.Pro32852LeufsTer?)
c.79640_79652del (p.Pro26547LeufsTer?)
c.79439_79451del (p.Pro26480LeufsTer?)
c.79064_79076del (p.Pro26355LeufsTer?)
c.106259_106271del (p.Pro35420LeufsTer?)
c.101336_101348del (p.Pro33779LeufsTer?)
n.446+6710_446+6722del
n.220-5386_220-5374del
c.105356_105368del (p.Pro35119LeufsTer?)
c.79250_79262del (p.Pro26417LeufsTer?)
c.79109_79121del (p.Pro26370LeufsTer?)
c.105152_105164del (p.Pro35051LeufsTer?)
c.100550_100562del (p.Pro33517LeufsTer?)
c.100547_100559del (p.Pro33516LeufsTer?)
c.97589_97601del (p.Pro32530LeufsTer?)
c.79205_79217del (p.Pro26402LeufsTer?)
c.100700_100712del (p.Pro33567LeufsTer?)
c.100697_100709del (p.Pro33566LeufsTer?)
c.100130_100142del (p.Pro33377LeufsTer?)
c.97472_97484del (p.Pro32491LeufsTer?)
c.97391_97403del (p.Pro32464LeufsTer?)
c.79154_79166del (p.Pro26385LeufsTer?)
c.69008_69020del (p.Pro23003LeufsTer?)
 ClinVar gnomAD v4
2g.178530345T>ACA349406371TTN,TTN-AS1c.98566A>T (p.Thr32856Ser)
c.79651A>T (p.Thr26551Ser)
c.79450A>T (p.Thr26484Ser)
c.79075A>T (p.Thr26359Ser)
c.106270A>T (p.Thr35424Ser)
c.101347A>T (p.Thr33783Ser)
n.446+6709T>A
n.220-5387T>A
c.105367A>T (p.Thr35123Ser)
c.79261A>T (p.Thr26421Ser)
c.79120A>T (p.Thr26374Ser)
c.105163A>T (p.Thr35055Ser)
c.100561A>T (p.Thr33521Ser)
c.100558A>T (p.Thr33520Ser)
c.97600A>T (p.Thr32534Ser)
c.79216A>T (p.Thr26406Ser)
c.100711A>T (p.Thr33571Ser)
c.100708A>T (p.Thr33570Ser)
c.100141A>T (p.Thr33381Ser)
c.97483A>T (p.Thr32495Ser)
c.97402A>T (p.Thr32468Ser)
c.79165A>T (p.Thr26389Ser)
c.69019A>T (p.Thr23007Ser)
2g.178530345T>CCA349406372TTN,TTN-AS1c.98566A>G (p.Thr32856Ala)
c.79651A>G (p.Thr26551Ala)
c.79450A>G (p.Thr26484Ala)
c.79075A>G (p.Thr26359Ala)
c.106270A>G (p.Thr35424Ala)
c.101347A>G (p.Thr33783Ala)
n.446+6709T>C
n.220-5387T>C
c.105367A>G (p.Thr35123Ala)
c.79261A>G (p.Thr26421Ala)
c.79120A>G (p.Thr26374Ala)
c.105163A>G (p.Thr35055Ala)
c.100561A>G (p.Thr33521Ala)
c.100558A>G (p.Thr33520Ala)
c.97600A>G (p.Thr32534Ala)
c.79216A>G (p.Thr26406Ala)
c.100711A>G (p.Thr33571Ala)
c.100708A>G (p.Thr33570Ala)
c.100141A>G (p.Thr33381Ala)
c.97483A>G (p.Thr32495Ala)
c.97402A>G (p.Thr32468Ala)
c.79165A>G (p.Thr26389Ala)
c.69019A>G (p.Thr23007Ala)
 gnomAD v4
2g.178530345T>GCA349406373TTN,TTN-AS1c.98566A>C (p.Thr32856Pro)
c.79651A>C (p.Thr26551Pro)
c.79450A>C (p.Thr26484Pro)
c.79075A>C (p.Thr26359Pro)
c.106270A>C (p.Thr35424Pro)
c.101347A>C (p.Thr33783Pro)
n.446+6709T>G
n.220-5387T>G
c.105367A>C (p.Thr35123Pro)
c.79261A>C (p.Thr26421Pro)
c.79120A>C (p.Thr26374Pro)
c.105163A>C (p.Thr35055Pro)
c.100561A>C (p.Thr33521Pro)
c.100558A>C (p.Thr33520Pro)
c.97600A>C (p.Thr32534Pro)
c.79216A>C (p.Thr26406Pro)
c.100711A>C (p.Thr33571Pro)
c.100708A>C (p.Thr33570Pro)
c.100141A>C (p.Thr33381Pro)
c.97483A>C (p.Thr32495Pro)
c.97402A>C (p.Thr32468Pro)
c.79165A>C (p.Thr26389Pro)
c.69019A>C (p.Thr23007Pro)
2g.178530346A>CCA430235184TTN,TTN-AS1c.98565T>G (p.Val32855=)
c.79650T>G (p.Val26550=)
c.79449T>G (p.Val26483=)
c.79074T>G (p.Val26358=)
c.106269T>G (p.Val35423=)
c.101346T>G (p.Val33782=)
n.446+6710A>C
n.220-5386A>C
c.105366T>G (p.Val35122=)
c.79260T>G (p.Val26420=)
c.79119T>G (p.Val26373=)
c.105162T>G (p.Val35054=)
c.100560T>G (p.Val33520=)
c.100557T>G (p.Val33519=)
c.97599T>G (p.Val32533=)
c.79215T>G (p.Val26405=)
c.100710T>G (p.Val33570=)
c.100707T>G (p.Val33569=)
c.100140T>G (p.Val33380=)
c.97482T>G (p.Val32494=)
c.97401T>G (p.Val32467=)
c.79164T>G (p.Val26388=)
c.69018T>G (p.Val23006=)
2g.178530346A>GCA430235187TTN,TTN-AS1c.98565T>C (p.Val32855=)
c.79650T>C (p.Val26550=)
c.79449T>C (p.Val26483=)
c.79074T>C (p.Val26358=)
c.106269T>C (p.Val35423=)
c.101346T>C (p.Val33782=)
n.446+6710A>G
n.220-5386A>G
c.105366T>C (p.Val35122=)
c.79260T>C (p.Val26420=)
c.79119T>C (p.Val26373=)
c.105162T>C (p.Val35054=)
c.100560T>C (p.Val33520=)
c.100557T>C (p.Val33519=)
c.97599T>C (p.Val32533=)
c.79215T>C (p.Val26405=)
c.100710T>C (p.Val33570=)
c.100707T>C (p.Val33569=)
c.100140T>C (p.Val33380=)
c.97482T>C (p.Val32494=)
c.97401T>C (p.Val32467=)
c.79164T>C (p.Val26388=)
c.69018T>C (p.Val23006=)
2g.178530346A>TCA430235185TTN,TTN-AS1c.98565T>A (p.Val32855=)
c.79650T>A (p.Val26550=)
c.79449T>A (p.Val26483=)
c.79074T>A (p.Val26358=)
c.106269T>A (p.Val35423=)
c.101346T>A (p.Val33782=)
n.446+6710A>T
n.220-5386A>T
c.105366T>A (p.Val35122=)
c.79260T>A (p.Val26420=)
c.79119T>A (p.Val26373=)
c.105162T>A (p.Val35054=)
c.100560T>A (p.Val33520=)
c.100557T>A (p.Val33519=)
c.97599T>A (p.Val32533=)
c.79215T>A (p.Val26405=)
c.100710T>A (p.Val33570=)
c.100707T>A (p.Val33569=)
c.100140T>A (p.Val33380=)
c.97482T>A (p.Val32494=)
c.97401T>A (p.Val32467=)
c.79164T>A (p.Val26388=)
c.69018T>A (p.Val23006=)
2g.178530347A>CCA349406376TTN,TTN-AS1c.98564T>G (p.Val32855Gly)
c.79649T>G (p.Val26550Gly)
c.79448T>G (p.Val26483Gly)
c.79073T>G (p.Val26358Gly)
c.106268T>G (p.Val35423Gly)
c.101345T>G (p.Val33782Gly)
n.446+6711A>C
n.220-5385A>C
c.105365T>G (p.Val35122Gly)
c.79259T>G (p.Val26420Gly)
c.79118T>G (p.Val26373Gly)
c.105161T>G (p.Val35054Gly)
c.100559T>G (p.Val33520Gly)
c.100556T>G (p.Val33519Gly)
c.97598T>G (p.Val32533Gly)
c.79214T>G (p.Val26405Gly)
c.100709T>G (p.Val33570Gly)
c.100706T>G (p.Val33569Gly)
c.100139T>G (p.Val33380Gly)
c.97481T>G (p.Val32494Gly)
c.97400T>G (p.Val32467Gly)
c.79163T>G (p.Val26388Gly)
c.69017T>G (p.Val23006Gly)
2g.178530347A>GCA349406375TTN,TTN-AS1c.98564T>C (p.Val32855Ala)
c.79649T>C (p.Val26550Ala)
c.79448T>C (p.Val26483Ala)
c.79073T>C (p.Val26358Ala)
c.106268T>C (p.Val35423Ala)
c.101345T>C (p.Val33782Ala)
n.446+6711A>G
n.220-5385A>G
c.105365T>C (p.Val35122Ala)
c.79259T>C (p.Val26420Ala)
c.79118T>C (p.Val26373Ala)
c.105161T>C (p.Val35054Ala)
c.100559T>C (p.Val33520Ala)
c.100556T>C (p.Val33519Ala)
c.97598T>C (p.Val32533Ala)
c.79214T>C (p.Val26405Ala)
c.100709T>C (p.Val33570Ala)
c.100706T>C (p.Val33569Ala)
c.100139T>C (p.Val33380Ala)
c.97481T>C (p.Val32494Ala)
c.97400T>C (p.Val32467Ala)
c.79163T>C (p.Val26388Ala)
c.69017T>C (p.Val23006Ala)
2g.178530347A>TCA349406374TTN,TTN-AS1c.98564T>A (p.Val32855Asp)
c.79649T>A (p.Val26550Asp)
c.79448T>A (p.Val26483Asp)
c.79073T>A (p.Val26358Asp)
c.106268T>A (p.Val35423Asp)
c.101345T>A (p.Val33782Asp)
n.446+6711A>T
n.220-5385A>T
c.105365T>A (p.Val35122Asp)
c.79259T>A (p.Val26420Asp)
c.79118T>A (p.Val26373Asp)
c.105161T>A (p.Val35054Asp)
c.100559T>A (p.Val33520Asp)
c.100556T>A (p.Val33519Asp)
c.97598T>A (p.Val32533Asp)
c.79214T>A (p.Val26405Asp)
c.100709T>A (p.Val33570Asp)
c.100706T>A (p.Val33569Asp)
c.100139T>A (p.Val33380Asp)
c.97481T>A (p.Val32494Asp)
c.97400T>A (p.Val32467Asp)
c.79163T>A (p.Val26388Asp)
c.69017T>A (p.Val23006Asp)
2g.178530348C>ACA311255TTN,TTN-AS1c.98563G>T (p.Val32855Phe)
c.79648G>T (p.Val26550Phe)
c.79447G>T (p.Val26483Phe)
c.79072G>T (p.Val26358Phe)
c.106267G>T (p.Val35423Phe)
c.101344G>T (p.Val33782Phe)
n.446+6712C>A
n.220-5384C>A
c.105364G>T (p.Val35122Phe)
c.79258G>T (p.Val26420Phe)
c.79117G>T (p.Val26373Phe)
c.105160G>T (p.Val35054Phe)
c.100558G>T (p.Val33520Phe)
c.100555G>T (p.Val33519Phe)
c.97597G>T (p.Val32533Phe)
c.79213G>T (p.Val26405Phe)
c.100708G>T (p.Val33570Phe)
c.100705G>T (p.Val33569Phe)
c.100138G>T (p.Val33380Phe)
c.97480G>T (p.Val32494Phe)
c.97399G>T (p.Val32467Phe)
c.79162G>T (p.Val26388Phe)
c.69016G>T (p.Val23006Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530348C=CA1310514538TTN,TTN-AS1c.98563G= (p.Val32855=)
c.79648G= (p.Val26550=)
c.79447G= (p.Val26483=)
c.79072G= (p.Val26358=)
c.106267G= (p.Val35423=)
c.101344G= (p.Val33782=)
n.446+6712C=
n.220-5384C=
c.105364G= (p.Val35122=)
c.79258G= (p.Val26420=)
c.79117G= (p.Val26373=)
c.105160G= (p.Val35054=)
c.100558G= (p.Val33520=)
c.100555G= (p.Val33519=)
c.97597G= (p.Val32533=)
c.79213G= (p.Val26405=)
c.100708G= (p.Val33570=)
c.100705G= (p.Val33569=)
c.100138G= (p.Val33380=)
c.97480G= (p.Val32494=)
c.97399G= (p.Val32467=)
c.79162G= (p.Val26388=)
c.69016G= (p.Val23006=)
2g.178530348C>GCA349406377TTN,TTN-AS1c.98563G>C (p.Val32855Leu)
c.79648G>C (p.Val26550Leu)
c.79447G>C (p.Val26483Leu)
c.79072G>C (p.Val26358Leu)
c.106267G>C (p.Val35423Leu)
c.101344G>C (p.Val33782Leu)
n.446+6712C>G
n.220-5384C>G
c.105364G>C (p.Val35122Leu)
c.79258G>C (p.Val26420Leu)
c.79117G>C (p.Val26373Leu)
c.105160G>C (p.Val35054Leu)
c.100558G>C (p.Val33520Leu)
c.100555G>C (p.Val33519Leu)
c.97597G>C (p.Val32533Leu)
c.79213G>C (p.Val26405Leu)
c.100708G>C (p.Val33570Leu)
c.100705G>C (p.Val33569Leu)
c.100138G>C (p.Val33380Leu)
c.97480G>C (p.Val32494Leu)
c.97399G>C (p.Val32467Leu)
c.79162G>C (p.Val26388Leu)
c.69016G>C (p.Val23006Leu)
2g.178530348C>TCA349406378TTN,TTN-AS1c.98563G>A (p.Val32855Ile)
c.79648G>A (p.Val26550Ile)
c.79447G>A (p.Val26483Ile)
c.79072G>A (p.Val26358Ile)
c.106267G>A (p.Val35423Ile)
c.101344G>A (p.Val33782Ile)
n.446+6712C>T
n.220-5384C>T
c.105364G>A (p.Val35122Ile)
c.79258G>A (p.Val26420Ile)
c.79117G>A (p.Val26373Ile)
c.105160G>A (p.Val35054Ile)
c.100558G>A (p.Val33520Ile)
c.100555G>A (p.Val33519Ile)
c.97597G>A (p.Val32533Ile)
c.79213G>A (p.Val26405Ile)
c.100708G>A (p.Val33570Ile)
c.100705G>A (p.Val33569Ile)
c.100138G>A (p.Val33380Ile)
c.97480G>A (p.Val32494Ile)
c.97399G>A (p.Val32467Ile)
c.79162G>A (p.Val26388Ile)
c.69016G>A (p.Val23006Ile)
2g.178530349A=CA1310514539TTN,TTN-AS1c.98562T= (p.Ile32854=)
c.79647T= (p.Ile26549=)
c.79446T= (p.Ile26482=)
c.79071T= (p.Ile26357=)
c.106266T= (p.Ile35422=)
c.101343T= (p.Ile33781=)
n.446+6713A=
n.220-5383A=
c.105363T= (p.Ile35121=)
c.79257T= (p.Ile26419=)
c.79116T= (p.Ile26372=)
c.105159T= (p.Ile35053=)
c.100557T= (p.Ile33519=)
c.100554T= (p.Ile33518=)
c.97596T= (p.Ile32532=)
c.79212T= (p.Ile26404=)
c.100707T= (p.Ile33569=)
c.100704T= (p.Ile33568=)
c.100137T= (p.Ile33379=)
c.97479T= (p.Ile32493=)
c.97398T= (p.Ile32466=)
c.79161T= (p.Ile26387=)
c.69015T= (p.Ile23005=)
2g.178530349A>CCA349406379TTN,TTN-AS1c.98562T>G (p.Ile32854Met)
c.79647T>G (p.Ile26549Met)
c.79446T>G (p.Ile26482Met)
c.79071T>G (p.Ile26357Met)
c.106266T>G (p.Ile35422Met)
c.101343T>G (p.Ile33781Met)
n.446+6713A>C
n.220-5383A>C
c.105363T>G (p.Ile35121Met)
c.79257T>G (p.Ile26419Met)
c.79116T>G (p.Ile26372Met)
c.105159T>G (p.Ile35053Met)
c.100557T>G (p.Ile33519Met)
c.100554T>G (p.Ile33518Met)
c.97596T>G (p.Ile32532Met)
c.79212T>G (p.Ile26404Met)
c.100707T>G (p.Ile33569Met)
c.100704T>G (p.Ile33568Met)
c.100137T>G (p.Ile33379Met)
c.97479T>G (p.Ile32493Met)
c.97398T>G (p.Ile32466Met)
c.79161T>G (p.Ile26387Met)
c.69015T>G (p.Ile23005Met)
2g.178530349A>GCA430235190TTN,TTN-AS1c.98562T>C (p.Ile32854=)
c.79647T>C (p.Ile26549=)
c.79446T>C (p.Ile26482=)
c.79071T>C (p.Ile26357=)
c.106266T>C (p.Ile35422=)
c.101343T>C (p.Ile33781=)
n.446+6713A>G
n.220-5383A>G
c.105363T>C (p.Ile35121=)
c.79257T>C (p.Ile26419=)
c.79116T>C (p.Ile26372=)
c.105159T>C (p.Ile35053=)
c.100557T>C (p.Ile33519=)
c.100554T>C (p.Ile33518=)
c.97596T>C (p.Ile32532=)
c.79212T>C (p.Ile26404=)
c.100707T>C (p.Ile33569=)
c.100704T>C (p.Ile33568=)
c.100137T>C (p.Ile33379=)
c.97479T>C (p.Ile32493=)
c.97398T>C (p.Ile32466=)
c.79161T>C (p.Ile26387=)
c.69015T>C (p.Ile23005=)
 gnomAD v4
2g.178530349A>TCA430235191TTN,TTN-AS1c.98562T>A (p.Ile32854=)
c.79647T>A (p.Ile26549=)
c.79446T>A (p.Ile26482=)
c.79071T>A (p.Ile26357=)
c.106266T>A (p.Ile35422=)
c.101343T>A (p.Ile33781=)
n.446+6713A>T
n.220-5383A>T
c.105363T>A (p.Ile35121=)
c.79257T>A (p.Ile26419=)
c.79116T>A (p.Ile26372=)
c.105159T>A (p.Ile35053=)
c.100557T>A (p.Ile33519=)
c.100554T>A (p.Ile33518=)
c.97596T>A (p.Ile32532=)
c.79212T>A (p.Ile26404=)
c.100707T>A (p.Ile33569=)
c.100704T>A (p.Ile33568=)
c.100137T>A (p.Ile33379=)
c.97479T>A (p.Ile32493=)
c.97398T>A (p.Ile32466=)
c.79161T>A (p.Ile26387=)
c.69015T>A (p.Ile23005=)
 dbSNP gnomAD v2 gnomAD v4
2g.178530350A=CA1310514542TTN,TTN-AS1c.98561T= (p.Ile32854=)
c.79646T= (p.Ile26549=)
c.79445T= (p.Ile26482=)
c.79070T= (p.Ile26357=)
c.106265T= (p.Ile35422=)
c.101342T= (p.Ile33781=)
n.446+6714A=
n.220-5382A=
c.105362T= (p.Ile35121=)
c.79256T= (p.Ile26419=)
c.79115T= (p.Ile26372=)
c.105158T= (p.Ile35053=)
c.100556T= (p.Ile33519=)
c.100553T= (p.Ile33518=)
c.97595T= (p.Ile32532=)
c.79211T= (p.Ile26404=)
c.100706T= (p.Ile33569=)
c.100703T= (p.Ile33568=)
c.100136T= (p.Ile33379=)
c.97478T= (p.Ile32493=)
c.97397T= (p.Ile32466=)
c.79160T= (p.Ile26387=)
c.69014T= (p.Ile23005=)
2g.178530350A>CCA349406380TTN,TTN-AS1c.98561T>G (p.Ile32854Ser)
c.79646T>G (p.Ile26549Ser)
c.79445T>G (p.Ile26482Ser)
c.79070T>G (p.Ile26357Ser)
c.106265T>G (p.Ile35422Ser)
c.101342T>G (p.Ile33781Ser)
n.446+6714A>C
n.220-5382A>C
c.105362T>G (p.Ile35121Ser)
c.79256T>G (p.Ile26419Ser)
c.79115T>G (p.Ile26372Ser)
c.105158T>G (p.Ile35053Ser)
c.100556T>G (p.Ile33519Ser)
c.100553T>G (p.Ile33518Ser)
c.97595T>G (p.Ile32532Ser)
c.79211T>G (p.Ile26404Ser)
c.100706T>G (p.Ile33569Ser)
c.100703T>G (p.Ile33568Ser)
c.100136T>G (p.Ile33379Ser)
c.97478T>G (p.Ile32493Ser)
c.97397T>G (p.Ile32466Ser)
c.79160T>G (p.Ile26387Ser)
c.69014T>G (p.Ile23005Ser)
2g.178530350A>GCA349406381TTN,TTN-AS1c.98561T>C (p.Ile32854Thr)
c.79646T>C (p.Ile26549Thr)
c.79445T>C (p.Ile26482Thr)
c.79070T>C (p.Ile26357Thr)
c.106265T>C (p.Ile35422Thr)
c.101342T>C (p.Ile33781Thr)
n.446+6714A>G
n.220-5382A>G
c.105362T>C (p.Ile35121Thr)
c.79256T>C (p.Ile26419Thr)
c.79115T>C (p.Ile26372Thr)
c.105158T>C (p.Ile35053Thr)
c.100556T>C (p.Ile33519Thr)
c.100553T>C (p.Ile33518Thr)
c.97595T>C (p.Ile32532Thr)
c.79211T>C (p.Ile26404Thr)
c.100706T>C (p.Ile33569Thr)
c.100703T>C (p.Ile33568Thr)
c.100136T>C (p.Ile33379Thr)
c.97478T>C (p.Ile32493Thr)
c.97397T>C (p.Ile32466Thr)
c.79160T>C (p.Ile26387Thr)
c.69014T>C (p.Ile23005Thr)
 ClinVar dbSNP
2g.178530350A>TCA349406382TTN,TTN-AS1c.98561T>A (p.Ile32854Asn)
c.79646T>A (p.Ile26549Asn)
c.79445T>A (p.Ile26482Asn)
c.79070T>A (p.Ile26357Asn)
c.106265T>A (p.Ile35422Asn)
c.101342T>A (p.Ile33781Asn)
n.446+6714A>T
n.220-5382A>T
c.105362T>A (p.Ile35121Asn)
c.79256T>A (p.Ile26419Asn)
c.79115T>A (p.Ile26372Asn)
c.105158T>A (p.Ile35053Asn)
c.100556T>A (p.Ile33519Asn)
c.100553T>A (p.Ile33518Asn)
c.97595T>A (p.Ile32532Asn)
c.79211T>A (p.Ile26404Asn)
c.100706T>A (p.Ile33569Asn)
c.100703T>A (p.Ile33568Asn)
c.100136T>A (p.Ile33379Asn)
c.97478T>A (p.Ile32493Asn)
c.97397T>A (p.Ile32466Asn)
c.79160T>A (p.Ile26387Asn)
c.69014T>A (p.Ile23005Asn)
2g.178530351T>ACA349406383TTN,TTN-AS1c.98560A>T (p.Ile32854Phe)
c.79645A>T (p.Ile26549Phe)
c.79444A>T (p.Ile26482Phe)
c.79069A>T (p.Ile26357Phe)
c.106264A>T (p.Ile35422Phe)
c.101341A>T (p.Ile33781Phe)
n.446+6715T>A
n.220-5381T>A
c.105361A>T (p.Ile35121Phe)
c.79255A>T (p.Ile26419Phe)
c.79114A>T (p.Ile26372Phe)
c.105157A>T (p.Ile35053Phe)
c.100555A>T (p.Ile33519Phe)
c.100552A>T (p.Ile33518Phe)
c.97594A>T (p.Ile32532Phe)
c.79210A>T (p.Ile26404Phe)
c.100705A>T (p.Ile33569Phe)
c.100702A>T (p.Ile33568Phe)
c.100135A>T (p.Ile33379Phe)
c.97477A>T (p.Ile32493Phe)
c.97396A>T (p.Ile32466Phe)
c.79159A>T (p.Ile26387Phe)
c.69013A>T (p.Ile23005Phe)
2g.178530351T>CCA349406384TTN,TTN-AS1c.98560A>G (p.Ile32854Val)
c.79645A>G (p.Ile26549Val)
c.79444A>G (p.Ile26482Val)
c.79069A>G (p.Ile26357Val)
c.106264A>G (p.Ile35422Val)
c.101341A>G (p.Ile33781Val)
n.446+6715T>C
n.220-5381T>C
c.105361A>G (p.Ile35121Val)
c.79255A>G (p.Ile26419Val)
c.79114A>G (p.Ile26372Val)
c.105157A>G (p.Ile35053Val)
c.100555A>G (p.Ile33519Val)
c.100552A>G (p.Ile33518Val)
c.97594A>G (p.Ile32532Val)
c.79210A>G (p.Ile26404Val)
c.100705A>G (p.Ile33569Val)
c.100702A>G (p.Ile33568Val)
c.100135A>G (p.Ile33379Val)
c.97477A>G (p.Ile32493Val)
c.97396A>G (p.Ile32466Val)
c.79159A>G (p.Ile26387Val)
c.69013A>G (p.Ile23005Val)
2g.178530351T>GCA349406385TTN,TTN-AS1c.98560A>C (p.Ile32854Leu)
c.79645A>C (p.Ile26549Leu)
c.79444A>C (p.Ile26482Leu)
c.79069A>C (p.Ile26357Leu)
c.106264A>C (p.Ile35422Leu)
c.101341A>C (p.Ile33781Leu)
n.446+6715T>G
n.220-5381T>G
c.105361A>C (p.Ile35121Leu)
c.79255A>C (p.Ile26419Leu)
c.79114A>C (p.Ile26372Leu)
c.105157A>C (p.Ile35053Leu)
c.100555A>C (p.Ile33519Leu)
c.100552A>C (p.Ile33518Leu)
c.97594A>C (p.Ile32532Leu)
c.79210A>C (p.Ile26404Leu)
c.100705A>C (p.Ile33569Leu)
c.100702A>C (p.Ile33568Leu)
c.100135A>C (p.Ile33379Leu)
c.97477A>C (p.Ile32493Leu)
c.97396A>C (p.Ile32466Leu)
c.79159A>C (p.Ile26387Leu)
c.69013A>C (p.Ile23005Leu)
2g.178530352T>ACA430235196TTN,TTN-AS1c.98559A>T (p.Val32853=)
c.79644A>T (p.Val26548=)
c.79443A>T (p.Val26481=)
c.79068A>T (p.Val26356=)
c.106263A>T (p.Val35421=)
c.101340A>T (p.Val33780=)
n.446+6716T>A
n.220-5380T>A
c.105360A>T (p.Val35120=)
c.79254A>T (p.Val26418=)
c.79113A>T (p.Val26371=)
c.105156A>T (p.Val35052=)
c.100554A>T (p.Val33518=)
c.100551A>T (p.Val33517=)
c.97593A>T (p.Val32531=)
c.79209A>T (p.Val26403=)
c.100704A>T (p.Val33568=)
c.100701A>T (p.Val33567=)
c.100134A>T (p.Val33378=)
c.97476A>T (p.Val32492=)
c.97395A>T (p.Val32465=)
c.79158A>T (p.Val26386=)
c.69012A>T (p.Val23004=)
2g.178530352T>CCA430235197TTN,TTN-AS1c.98559A>G (p.Val32853=)
c.79644A>G (p.Val26548=)
c.79443A>G (p.Val26481=)
c.79068A>G (p.Val26356=)
c.106263A>G (p.Val35421=)
c.101340A>G (p.Val33780=)
n.446+6716T>C
n.220-5380T>C
c.105360A>G (p.Val35120=)
c.79254A>G (p.Val26418=)
c.79113A>G (p.Val26371=)
c.105156A>G (p.Val35052=)
c.100554A>G (p.Val33518=)
c.100551A>G (p.Val33517=)
c.97593A>G (p.Val32531=)
c.79209A>G (p.Val26403=)
c.100704A>G (p.Val33568=)
c.100701A>G (p.Val33567=)
c.100134A>G (p.Val33378=)
c.97476A>G (p.Val32492=)
c.97395A>G (p.Val32465=)
c.79158A>G (p.Val26386=)
c.69012A>G (p.Val23004=)
2g.178530352T>GCA430235198TTN,TTN-AS1c.98559A>C (p.Val32853=)
c.79644A>C (p.Val26548=)
c.79443A>C (p.Val26481=)
c.79068A>C (p.Val26356=)
c.106263A>C (p.Val35421=)
c.101340A>C (p.Val33780=)
n.446+6716T>G
n.220-5380T>G
c.105360A>C (p.Val35120=)
c.79254A>C (p.Val26418=)
c.79113A>C (p.Val26371=)
c.105156A>C (p.Val35052=)
c.100554A>C (p.Val33518=)
c.100551A>C (p.Val33517=)
c.97593A>C (p.Val32531=)
c.79209A>C (p.Val26403=)
c.100704A>C (p.Val33568=)
c.100701A>C (p.Val33567=)
c.100134A>C (p.Val33378=)
c.97476A>C (p.Val32492=)
c.97395A>C (p.Val32465=)
c.79158A>C (p.Val26386=)
c.69012A>C (p.Val23004=)
2g.178530352T=CA1310514543TTN,TTN-AS1c.98559A= (p.Val32853=)
c.79644A= (p.Val26548=)
c.79443A= (p.Val26481=)
c.79068A= (p.Val26356=)
c.106263A= (p.Val35421=)
c.101340A= (p.Val33780=)
n.446+6716T=
n.220-5380T=
c.105360A= (p.Val35120=)
c.79254A= (p.Val26418=)
c.79113A= (p.Val26371=)
c.105156A= (p.Val35052=)
c.100554A= (p.Val33518=)
c.100551A= (p.Val33517=)
c.97593A= (p.Val32531=)
c.79209A= (p.Val26403=)
c.100704A= (p.Val33568=)
c.100701A= (p.Val33567=)
c.100134A= (p.Val33378=)
c.97476A= (p.Val32492=)
c.97395A= (p.Val32465=)
c.79158A= (p.Val26386=)
c.69012A= (p.Val23004=)
2g.178530353A>CCA349406386TTN,TTN-AS1c.98558T>G (p.Val32853Gly)
c.79643T>G (p.Val26548Gly)
c.79442T>G (p.Val26481Gly)
c.79067T>G (p.Val26356Gly)
c.106262T>G (p.Val35421Gly)
c.101339T>G (p.Val33780Gly)
n.446+6717A>C
n.220-5379A>C
c.105359T>G (p.Val35120Gly)
c.79253T>G (p.Val26418Gly)
c.79112T>G (p.Val26371Gly)
c.105155T>G (p.Val35052Gly)
c.100553T>G (p.Val33518Gly)
c.100550T>G (p.Val33517Gly)
c.97592T>G (p.Val32531Gly)
c.79208T>G (p.Val26403Gly)
c.100703T>G (p.Val33568Gly)
c.100700T>G (p.Val33567Gly)
c.100133T>G (p.Val33378Gly)
c.97475T>G (p.Val32492Gly)
c.97394T>G (p.Val32465Gly)
c.79157T>G (p.Val26386Gly)
c.69011T>G (p.Val23004Gly)
2g.178530353A>GCA349406387TTN,TTN-AS1c.98558T>C (p.Val32853Ala)
c.79643T>C (p.Val26548Ala)
c.79442T>C (p.Val26481Ala)
c.79067T>C (p.Val26356Ala)
c.106262T>C (p.Val35421Ala)
c.101339T>C (p.Val33780Ala)
n.446+6717A>G
n.220-5379A>G
c.105359T>C (p.Val35120Ala)
c.79253T>C (p.Val26418Ala)
c.79112T>C (p.Val26371Ala)
c.105155T>C (p.Val35052Ala)
c.100553T>C (p.Val33518Ala)
c.100550T>C (p.Val33517Ala)
c.97592T>C (p.Val32531Ala)
c.79208T>C (p.Val26403Ala)
c.100703T>C (p.Val33568Ala)
c.100700T>C (p.Val33567Ala)
c.100133T>C (p.Val33378Ala)
c.97475T>C (p.Val32492Ala)
c.97394T>C (p.Val32465Ala)
c.79157T>C (p.Val26386Ala)
c.69011T>C (p.Val23004Ala)
2g.178530353A>TCA349406388TTN,TTN-AS1c.98558T>A (p.Val32853Glu)
c.79643T>A (p.Val26548Glu)
c.79442T>A (p.Val26481Glu)
c.79067T>A (p.Val26356Glu)
c.106262T>A (p.Val35421Glu)
c.101339T>A (p.Val33780Glu)
n.446+6717A>T
n.220-5379A>T
c.105359T>A (p.Val35120Glu)
c.79253T>A (p.Val26418Glu)
c.79112T>A (p.Val26371Glu)
c.105155T>A (p.Val35052Glu)
c.100553T>A (p.Val33518Glu)
c.100550T>A (p.Val33517Glu)
c.97592T>A (p.Val32531Glu)
c.79208T>A (p.Val26403Glu)
c.100703T>A (p.Val33568Glu)
c.100700T>A (p.Val33567Glu)
c.100133T>A (p.Val33378Glu)
c.97475T>A (p.Val32492Glu)
c.97394T>A (p.Val32465Glu)
c.79157T>A (p.Val26386Glu)
c.69011T>A (p.Val23004Glu)
2g.178530353dupCA1139657397TTN,TTN-AS1c.98558dup (p.Ile32854AsnfsTer17)
c.79643dup (p.Ile26549AsnfsTer17)
c.79442dup (p.Ile26482AsnfsTer17)
c.79067dup (p.Ile26357AsnfsTer17)
c.106262dup (p.Ile35422AsnfsTer17)
c.101339dup (p.Ile33781AsnfsTer17)
n.446+6717dup
n.220-5379dup
c.105359dup (p.Ile35121AsnfsTer17)
c.79253dup (p.Ile26419AsnfsTer17)
c.79112dup (p.Ile26372AsnfsTer17)
c.105155dup (p.Ile35053AsnfsTer17)
c.100553dup (p.Ile33519AsnfsTer17)
c.100550dup (p.Ile33518AsnfsTer17)
c.97592dup (p.Ile32532AsnfsTer17)
c.79208dup (p.Ile26404AsnfsTer17)
c.100703dup (p.Ile33569AsnfsTer17)
c.100700dup (p.Ile33568AsnfsTer17)
c.100133dup (p.Ile33379AsnfsTer17)
c.97475dup (p.Ile32493AsnfsTer17)
c.97394dup (p.Ile32466AsnfsTer17)
c.79157dup (p.Ile26387AsnfsTer17)
c.69011dup (p.Ile23005AsnfsTer17)
 ClinVar dbSNP
2g.178530354C>ACA349406389TTN,TTN-AS1c.98557G>T (p.Val32853Leu)
c.79642G>T (p.Val26548Leu)
c.79441G>T (p.Val26481Leu)
c.79066G>T (p.Val26356Leu)
c.106261G>T (p.Val35421Leu)
c.101338G>T (p.Val33780Leu)
n.446+6718C>A
n.220-5378C>A
c.105358G>T (p.Val35120Leu)
c.79252G>T (p.Val26418Leu)
c.79111G>T (p.Val26371Leu)
c.105154G>T (p.Val35052Leu)
c.100552G>T (p.Val33518Leu)
c.100549G>T (p.Val33517Leu)
c.97591G>T (p.Val32531Leu)
c.79207G>T (p.Val26403Leu)
c.100702G>T (p.Val33568Leu)
c.100699G>T (p.Val33567Leu)
c.100132G>T (p.Val33378Leu)
c.97474G>T (p.Val32492Leu)
c.97393G>T (p.Val32465Leu)
c.79156G>T (p.Val26386Leu)
c.69010G>T (p.Val23004Leu)
2g.178530354C>GCA349406391TTN,TTN-AS1c.98557G>C (p.Val32853Leu)
c.79642G>C (p.Val26548Leu)
c.79441G>C (p.Val26481Leu)
c.79066G>C (p.Val26356Leu)
c.106261G>C (p.Val35421Leu)
c.101338G>C (p.Val33780Leu)
n.446+6718C>G
n.220-5378C>G
c.105358G>C (p.Val35120Leu)
c.79252G>C (p.Val26418Leu)
c.79111G>C (p.Val26371Leu)
c.105154G>C (p.Val35052Leu)
c.100552G>C (p.Val33518Leu)
c.100549G>C (p.Val33517Leu)
c.97591G>C (p.Val32531Leu)
c.79207G>C (p.Val26403Leu)
c.100702G>C (p.Val33568Leu)
c.100699G>C (p.Val33567Leu)
c.100132G>C (p.Val33378Leu)
c.97474G>C (p.Val32492Leu)
c.97393G>C (p.Val32465Leu)
c.79156G>C (p.Val26386Leu)
c.69010G>C (p.Val23004Leu)
 gnomAD v4
2g.178530354C>TCA349406390TTN,TTN-AS1c.98557G>A (p.Val32853Ile)
c.79642G>A (p.Val26548Ile)
c.79441G>A (p.Val26481Ile)
c.79066G>A (p.Val26356Ile)
c.106261G>A (p.Val35421Ile)
c.101338G>A (p.Val33780Ile)
n.446+6718C>T
n.220-5378C>T
c.105358G>A (p.Val35120Ile)
c.79252G>A (p.Val26418Ile)
c.79111G>A (p.Val26371Ile)
c.105154G>A (p.Val35052Ile)
c.100552G>A (p.Val33518Ile)
c.100549G>A (p.Val33517Ile)
c.97591G>A (p.Val32531Ile)
c.79207G>A (p.Val26403Ile)
c.100702G>A (p.Val33568Ile)
c.100699G>A (p.Val33567Ile)
c.100132G>A (p.Val33378Ile)
c.97474G>A (p.Val32492Ile)
c.97393G>A (p.Val32465Ile)
c.79156G>A (p.Val26386Ile)
c.69010G>A (p.Val23004Ile)
2g.178530355T>ACA430235201TTN,TTN-AS1c.98556A>T (p.Pro32852=)
c.79641A>T (p.Pro26547=)
c.79440A>T (p.Pro26480=)
c.79065A>T (p.Pro26355=)
c.106260A>T (p.Pro35420=)
c.101337A>T (p.Pro33779=)
n.446+6719T>A
n.220-5377T>A
c.105357A>T (p.Pro35119=)
c.79251A>T (p.Pro26417=)
c.79110A>T (p.Pro26370=)
c.105153A>T (p.Pro35051=)
c.100551A>T (p.Pro33517=)
c.100548A>T (p.Pro33516=)
c.97590A>T (p.Pro32530=)
c.79206A>T (p.Pro26402=)
c.100701A>T (p.Pro33567=)
c.100698A>T (p.Pro33566=)
c.100131A>T (p.Pro33377=)
c.97473A>T (p.Pro32491=)
c.97392A>T (p.Pro32464=)
c.79155A>T (p.Pro26385=)
c.69009A>T (p.Pro23003=)
2g.178530355T>CCA430235202TTN,TTN-AS1c.98556A>G (p.Pro32852=)
c.79641A>G (p.Pro26547=)
c.79440A>G (p.Pro26480=)
c.79065A>G (p.Pro26355=)
c.106260A>G (p.Pro35420=)
c.101337A>G (p.Pro33779=)
n.446+6719T>C
n.220-5377T>C
c.105357A>G (p.Pro35119=)
c.79251A>G (p.Pro26417=)
c.79110A>G (p.Pro26370=)
c.105153A>G (p.Pro35051=)
c.100551A>G (p.Pro33517=)
c.100548A>G (p.Pro33516=)
c.97590A>G (p.Pro32530=)
c.79206A>G (p.Pro26402=)
c.100701A>G (p.Pro33567=)
c.100698A>G (p.Pro33566=)
c.100131A>G (p.Pro33377=)
c.97473A>G (p.Pro32491=)
c.97392A>G (p.Pro32464=)
c.79155A>G (p.Pro26385=)
c.69009A>G (p.Pro23003=)
2g.178530355T>GCA430235203TTN,TTN-AS1c.98556A>C (p.Pro32852=)
c.79641A>C (p.Pro26547=)
c.79440A>C (p.Pro26480=)
c.79065A>C (p.Pro26355=)
c.106260A>C (p.Pro35420=)
c.101337A>C (p.Pro33779=)
n.446+6719T>G
n.220-5377T>G
c.105357A>C (p.Pro35119=)
c.79251A>C (p.Pro26417=)
c.79110A>C (p.Pro26370=)
c.105153A>C (p.Pro35051=)
c.100551A>C (p.Pro33517=)
c.100548A>C (p.Pro33516=)
c.97590A>C (p.Pro32530=)
c.79206A>C (p.Pro26402=)
c.100701A>C (p.Pro33567=)
c.100698A>C (p.Pro33566=)
c.100131A>C (p.Pro33377=)
c.97473A>C (p.Pro32491=)
c.97392A>C (p.Pro32464=)
c.79155A>C (p.Pro26385=)
c.69009A>C (p.Pro23003=)
2g.178530355_178530356delinsTGCA1310514544TTN,TTN-AS1c.98555_98556delinsCA (p.Pro32852=)
c.79640_79641delinsCA (p.Pro26547=)
c.79439_79440delinsCA (p.Pro26480=)
c.79064_79065delinsCA (p.Pro26355=)
c.106259_106260delinsCA (p.Pro35420=)
c.101336_101337delinsCA (p.Pro33779=)
n.446+6719_446+6720delinsTG
n.220-5377_220-5376delinsTG
c.105356_105357delinsCA (p.Pro35119=)
c.79250_79251delinsCA (p.Pro26417=)
c.79109_79110delinsCA (p.Pro26370=)
c.105152_105153delinsCA (p.Pro35051=)
c.100550_100551delinsCA (p.Pro33517=)
c.100547_100548delinsCA (p.Pro33516=)
c.97589_97590delinsCA (p.Pro32530=)
c.79205_79206delinsCA (p.Pro26402=)
c.100700_100701delinsCA (p.Pro33567=)
c.100697_100698delinsCA (p.Pro33566=)
c.100130_100131delinsCA (p.Pro33377=)
c.97472_97473delinsCA (p.Pro32491=)
c.97391_97392delinsCA (p.Pro32464=)
c.79154_79155delinsCA (p.Pro26385=)
c.69008_69009delinsCA (p.Pro23003=)
2g.178530356G>ACA349406392TTN,TTN-AS1c.98555C>T (p.Pro32852Leu)
c.79640C>T (p.Pro26547Leu)
c.79439C>T (p.Pro26480Leu)
c.79064C>T (p.Pro26355Leu)
c.106259C>T (p.Pro35420Leu)
c.101336C>T (p.Pro33779Leu)
n.446+6720G>A
n.220-5376G>A
c.105356C>T (p.Pro35119Leu)
c.79250C>T (p.Pro26417Leu)
c.79109C>T (p.Pro26370Leu)
c.105152C>T (p.Pro35051Leu)
c.100550C>T (p.Pro33517Leu)
c.100547C>T (p.Pro33516Leu)
c.97589C>T (p.Pro32530Leu)
c.79205C>T (p.Pro26402Leu)
c.100700C>T (p.Pro33567Leu)
c.100697C>T (p.Pro33566Leu)
c.100130C>T (p.Pro33377Leu)
c.97472C>T (p.Pro32491Leu)
c.97391C>T (p.Pro32464Leu)
c.79154C>T (p.Pro26385Leu)
c.69008C>T (p.Pro23003Leu)
2g.178530356G>CCA1985140TTN,TTN-AS1c.98555C>G (p.Pro32852Arg)
c.79640C>G (p.Pro26547Arg)
c.79439C>G (p.Pro26480Arg)
c.79064C>G (p.Pro26355Arg)
c.106259C>G (p.Pro35420Arg)
c.101336C>G (p.Pro33779Arg)
n.446+6720G>C
n.220-5376G>C
c.105356C>G (p.Pro35119Arg)
c.79250C>G (p.Pro26417Arg)
c.79109C>G (p.Pro26370Arg)
c.105152C>G (p.Pro35051Arg)
c.100550C>G (p.Pro33517Arg)
c.100547C>G (p.Pro33516Arg)
c.97589C>G (p.Pro32530Arg)
c.79205C>G (p.Pro26402Arg)
c.100700C>G (p.Pro33567Arg)
c.100697C>G (p.Pro33566Arg)
c.100130C>G (p.Pro33377Arg)
c.97472C>G (p.Pro32491Arg)
c.97391C>G (p.Pro32464Arg)
c.79154C>G (p.Pro26385Arg)
c.69008C>G (p.Pro23003Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530356G=CA1310514547TTN,TTN-AS1c.98555C= (p.Pro32852=)
c.79640C= (p.Pro26547=)
c.79439C= (p.Pro26480=)
c.79064C= (p.Pro26355=)
c.106259C= (p.Pro35420=)
c.101336C= (p.Pro33779=)
n.446+6720G=
n.220-5376G=
c.105356C= (p.Pro35119=)
c.79250C= (p.Pro26417=)
c.79109C= (p.Pro26370=)
c.105152C= (p.Pro35051=)
c.100550C= (p.Pro33517=)
c.100547C= (p.Pro33516=)
c.97589C= (p.Pro32530=)
c.79205C= (p.Pro26402=)
c.100700C= (p.Pro33567=)
c.100697C= (p.Pro33566=)
c.100130C= (p.Pro33377=)
c.97472C= (p.Pro32491=)
c.97391C= (p.Pro32464=)
c.79154C= (p.Pro26385=)
c.69008C= (p.Pro23003=)
2g.178530356G>TCA349406393TTN,TTN-AS1c.98555C>A (p.Pro32852Gln)
c.79640C>A (p.Pro26547Gln)
c.79439C>A (p.Pro26480Gln)
c.79064C>A (p.Pro26355Gln)
c.106259C>A (p.Pro35420Gln)
c.101336C>A (p.Pro33779Gln)
n.446+6720G>T
n.220-5376G>T
c.105356C>A (p.Pro35119Gln)
c.79250C>A (p.Pro26417Gln)
c.79109C>A (p.Pro26370Gln)
c.105152C>A (p.Pro35051Gln)
c.100550C>A (p.Pro33517Gln)
c.100547C>A (p.Pro33516Gln)
c.97589C>A (p.Pro32530Gln)
c.79205C>A (p.Pro26402Gln)
c.100700C>A (p.Pro33567Gln)
c.100697C>A (p.Pro33566Gln)
c.100130C>A (p.Pro33377Gln)
c.97472C>A (p.Pro32491Gln)
c.97391C>A (p.Pro32464Gln)
c.79154C>A (p.Pro26385Gln)
c.69008C>A (p.Pro23003Gln)
2g.178530357delCA1139657398TTN,TTN-AS1c.98555del (p.Pro32852GlnfsTer2)
c.79640del (p.Pro26547GlnfsTer2)
c.79439del (p.Pro26480GlnfsTer2)
c.79064del (p.Pro26355GlnfsTer2)
c.106259del (p.Pro35420GlnfsTer2)
c.101336del (p.Pro33779GlnfsTer2)
n.446+6721del
n.220-5375del
c.105356del (p.Pro35119GlnfsTer2)
c.79250del (p.Pro26417GlnfsTer2)
c.79109del (p.Pro26370GlnfsTer2)
c.105152del (p.Pro35051GlnfsTer2)
c.100550del (p.Pro33517GlnfsTer2)
c.100547del (p.Pro33516GlnfsTer2)
c.97589del (p.Pro32530GlnfsTer2)
c.79205del (p.Pro26402GlnfsTer2)
c.100700del (p.Pro33567GlnfsTer2)
c.100697del (p.Pro33566GlnfsTer2)
c.100130del (p.Pro33377GlnfsTer2)
c.97472del (p.Pro32491GlnfsTer2)
c.97391del (p.Pro32464GlnfsTer2)
c.79154del (p.Pro26385GlnfsTer2)
c.69008del (p.Pro23003GlnfsTer2)
 ClinVar dbSNP
2g.178530357G>ACA1985141TTN,TTN-AS1c.98554C>T (p.Pro32852Ser)
c.79639C>T (p.Pro26547Ser)
c.79438C>T (p.Pro26480Ser)
c.79063C>T (p.Pro26355Ser)
c.106258C>T (p.Pro35420Ser)
c.101335C>T (p.Pro33779Ser)
n.446+6721G>A
n.220-5375G>A
c.105355C>T (p.Pro35119Ser)
c.79249C>T (p.Pro26417Ser)
c.79108C>T (p.Pro26370Ser)
c.105151C>T (p.Pro35051Ser)
c.100549C>T (p.Pro33517Ser)
c.100546C>T (p.Pro33516Ser)
c.97588C>T (p.Pro32530Ser)
c.79204C>T (p.Pro26402Ser)
c.100699C>T (p.Pro33567Ser)
c.100696C>T (p.Pro33566Ser)
c.100129C>T (p.Pro33377Ser)
c.97471C>T (p.Pro32491Ser)
c.97390C>T (p.Pro32464Ser)
c.79153C>T (p.Pro26385Ser)
c.69007C>T (p.Pro23003Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530357G>CCA349406394TTN,TTN-AS1c.98554C>G (p.Pro32852Ala)
c.79639C>G (p.Pro26547Ala)
c.79438C>G (p.Pro26480Ala)
c.79063C>G (p.Pro26355Ala)
c.106258C>G (p.Pro35420Ala)
c.101335C>G (p.Pro33779Ala)
n.446+6721G>C
n.220-5375G>C
c.105355C>G (p.Pro35119Ala)
c.79249C>G (p.Pro26417Ala)
c.79108C>G (p.Pro26370Ala)
c.105151C>G (p.Pro35051Ala)
c.100549C>G (p.Pro33517Ala)
c.100546C>G (p.Pro33516Ala)
c.97588C>G (p.Pro32530Ala)
c.79204C>G (p.Pro26402Ala)
c.100699C>G (p.Pro33567Ala)
c.100696C>G (p.Pro33566Ala)
c.100129C>G (p.Pro33377Ala)
c.97471C>G (p.Pro32491Ala)
c.97390C>G (p.Pro32464Ala)
c.79153C>G (p.Pro26385Ala)
c.69007C>G (p.Pro23003Ala)
2g.178530357G=CA1310514551TTN,TTN-AS1c.98554C= (p.Pro32852=)
c.79639C= (p.Pro26547=)
c.79438C= (p.Pro26480=)
c.79063C= (p.Pro26355=)
c.106258C= (p.Pro35420=)
c.101335C= (p.Pro33779=)
n.446+6721G=
n.220-5375G=
c.105355C= (p.Pro35119=)
c.79249C= (p.Pro26417=)
c.79108C= (p.Pro26370=)
c.105151C= (p.Pro35051=)
c.100549C= (p.Pro33517=)
c.100546C= (p.Pro33516=)
c.97588C= (p.Pro32530=)
c.79204C= (p.Pro26402=)
c.100699C= (p.Pro33567=)
c.100696C= (p.Pro33566=)
c.100129C= (p.Pro33377=)
c.97471C= (p.Pro32491=)
c.97390C= (p.Pro32464=)
c.79153C= (p.Pro26385=)
c.69007C= (p.Pro23003=)
2g.178530357G>TCA349406395TTN,TTN-AS1c.98554C>A (p.Pro32852Thr)
c.79639C>A (p.Pro26547Thr)
c.79438C>A (p.Pro26480Thr)
c.79063C>A (p.Pro26355Thr)
c.106258C>A (p.Pro35420Thr)
c.101335C>A (p.Pro33779Thr)
n.446+6721G>T
n.220-5375G>T
c.105355C>A (p.Pro35119Thr)
c.79249C>A (p.Pro26417Thr)
c.79108C>A (p.Pro26370Thr)
c.105151C>A (p.Pro35051Thr)
c.100549C>A (p.Pro33517Thr)
c.100546C>A (p.Pro33516Thr)
c.97588C>A (p.Pro32530Thr)
c.79204C>A (p.Pro26402Thr)
c.100699C>A (p.Pro33567Thr)
c.100696C>A (p.Pro33566Thr)
c.100129C>A (p.Pro33377Thr)
c.97471C>A (p.Pro32491Thr)
c.97390C>A (p.Pro32464Thr)
c.79153C>A (p.Pro26385Thr)
c.69007C>A (p.Pro23003Thr)
2g.178530358T>ACA349406396TTN,TTN-AS1c.98553A>T (p.Lys32851Asn)
c.79638A>T (p.Lys26546Asn)
c.79437A>T (p.Lys26479Asn)
c.79062A>T (p.Lys26354Asn)
c.106257A>T (p.Lys35419Asn)
c.101334A>T (p.Lys33778Asn)
n.446+6722T>A
n.220-5374T>A
c.105354A>T (p.Lys35118Asn)
c.79248A>T (p.Lys26416Asn)
c.79107A>T (p.Lys26369Asn)
c.105150A>T (p.Lys35050Asn)
c.100548A>T (p.Lys33516Asn)
c.100545A>T (p.Lys33515Asn)
c.97587A>T (p.Lys32529Asn)
c.79203A>T (p.Lys26401Asn)
c.100698A>T (p.Lys33566Asn)
c.100695A>T (p.Lys33565Asn)
c.100128A>T (p.Lys33376Asn)
c.97470A>T (p.Lys32490Asn)
c.97389A>T (p.Lys32463Asn)
c.79152A>T (p.Lys26384Asn)
c.69006A>T (p.Lys23002Asn)
2g.178530358T>CCA430235208TTN,TTN-AS1c.98553A>G (p.Lys32851=)
c.79638A>G (p.Lys26546=)
c.79437A>G (p.Lys26479=)
c.79062A>G (p.Lys26354=)
c.106257A>G (p.Lys35419=)
c.101334A>G (p.Lys33778=)
n.446+6722T>C
n.220-5374T>C
c.105354A>G (p.Lys35118=)
c.79248A>G (p.Lys26416=)
c.79107A>G (p.Lys26369=)
c.105150A>G (p.Lys35050=)
c.100548A>G (p.Lys33516=)
c.100545A>G (p.Lys33515=)
c.97587A>G (p.Lys32529=)
c.79203A>G (p.Lys26401=)
c.100698A>G (p.Lys33566=)
c.100695A>G (p.Lys33565=)
c.100128A>G (p.Lys33376=)
c.97470A>G (p.Lys32490=)
c.97389A>G (p.Lys32463=)
c.79152A>G (p.Lys26384=)
c.69006A>G (p.Lys23002=)
2g.178530358T>GCA349406397TTN,TTN-AS1c.98553A>C (p.Lys32851Asn)
c.79638A>C (p.Lys26546Asn)
c.79437A>C (p.Lys26479Asn)
c.79062A>C (p.Lys26354Asn)
c.106257A>C (p.Lys35419Asn)
c.101334A>C (p.Lys33778Asn)
n.446+6722T>G
n.220-5374T>G
c.105354A>C (p.Lys35118Asn)
c.79248A>C (p.Lys26416Asn)
c.79107A>C (p.Lys26369Asn)
c.105150A>C (p.Lys35050Asn)
c.100548A>C (p.Lys33516Asn)
c.100545A>C (p.Lys33515Asn)
c.97587A>C (p.Lys32529Asn)
c.79203A>C (p.Lys26401Asn)
c.100698A>C (p.Lys33566Asn)
c.100695A>C (p.Lys33565Asn)
c.100128A>C (p.Lys33376Asn)
c.97470A>C (p.Lys32490Asn)
c.97389A>C (p.Lys32463Asn)
c.79152A>C (p.Lys26384Asn)
c.69006A>C (p.Lys23002Asn)
2g.178530359T>ACA349406398TTN,TTN-AS1c.98552A>T (p.Lys32851Ile)
c.79637A>T (p.Lys26546Ile)
c.79436A>T (p.Lys26479Ile)
c.79061A>T (p.Lys26354Ile)
c.106256A>T (p.Lys35419Ile)
c.101333A>T (p.Lys33778Ile)
n.446+6723T>A
n.220-5373T>A
c.105353A>T (p.Lys35118Ile)
c.79247A>T (p.Lys26416Ile)
c.79106A>T (p.Lys26369Ile)
c.105149A>T (p.Lys35050Ile)
c.100547A>T (p.Lys33516Ile)
c.100544A>T (p.Lys33515Ile)
c.97586A>T (p.Lys32529Ile)
c.79202A>T (p.Lys26401Ile)
c.100697A>T (p.Lys33566Ile)
c.100694A>T (p.Lys33565Ile)
c.100127A>T (p.Lys33376Ile)
c.97469A>T (p.Lys32490Ile)
c.97388A>T (p.Lys32463Ile)
c.79151A>T (p.Lys26384Ile)
c.69005A>T (p.Lys23002Ile)
 gnomAD v4
2g.178530359T>CCA349406399TTN,TTN-AS1c.98552A>G (p.Lys32851Arg)
c.79637A>G (p.Lys26546Arg)
c.79436A>G (p.Lys26479Arg)
c.79061A>G (p.Lys26354Arg)
c.106256A>G (p.Lys35419Arg)
c.101333A>G (p.Lys33778Arg)
n.446+6723T>C
n.220-5373T>C
c.105353A>G (p.Lys35118Arg)
c.79247A>G (p.Lys26416Arg)
c.79106A>G (p.Lys26369Arg)
c.105149A>G (p.Lys35050Arg)
c.100547A>G (p.Lys33516Arg)
c.100544A>G (p.Lys33515Arg)
c.97586A>G (p.Lys32529Arg)
c.79202A>G (p.Lys26401Arg)
c.100697A>G (p.Lys33566Arg)
c.100694A>G (p.Lys33565Arg)
c.100127A>G (p.Lys33376Arg)
c.97469A>G (p.Lys32490Arg)
c.97388A>G (p.Lys32463Arg)
c.79151A>G (p.Lys26384Arg)
c.69005A>G (p.Lys23002Arg)
2g.178530359T>GCA349406400TTN,TTN-AS1c.98552A>C (p.Lys32851Thr)
c.79637A>C (p.Lys26546Thr)
c.79436A>C (p.Lys26479Thr)
c.79061A>C (p.Lys26354Thr)
c.106256A>C (p.Lys35419Thr)
c.101333A>C (p.Lys33778Thr)
n.446+6723T>G
n.220-5373T>G
c.105353A>C (p.Lys35118Thr)
c.79247A>C (p.Lys26416Thr)
c.79106A>C (p.Lys26369Thr)
c.105149A>C (p.Lys35050Thr)
c.100547A>C (p.Lys33516Thr)
c.100544A>C (p.Lys33515Thr)
c.97586A>C (p.Lys32529Thr)
c.79202A>C (p.Lys26401Thr)
c.100697A>C (p.Lys33566Thr)
c.100694A>C (p.Lys33565Thr)
c.100127A>C (p.Lys33376Thr)
c.97469A>C (p.Lys32490Thr)
c.97388A>C (p.Lys32463Thr)
c.79151A>C (p.Lys26384Thr)
c.69005A>C (p.Lys23002Thr)
2g.178530360T>ACA349406402TTN,TTN-AS1c.98551A>T (p.Lys32851Ter)
c.79636A>T (p.Lys26546Ter)
c.79435A>T (p.Lys26479Ter)
c.79060A>T (p.Lys26354Ter)
c.106255A>T (p.Lys35419Ter)
c.101332A>T (p.Lys33778Ter)
n.446+6724T>A
n.220-5372T>A
c.105352A>T (p.Lys35118Ter)
c.79246A>T (p.Lys26416Ter)
c.79105A>T (p.Lys26369Ter)
c.105148A>T (p.Lys35050Ter)
c.100546A>T (p.Lys33516Ter)
c.100543A>T (p.Lys33515Ter)
c.97585A>T (p.Lys32529Ter)
c.79201A>T (p.Lys26401Ter)
c.100696A>T (p.Lys33566Ter)
c.100693A>T (p.Lys33565Ter)
c.100126A>T (p.Lys33376Ter)
c.97468A>T (p.Lys32490Ter)
c.97387A>T (p.Lys32463Ter)
c.79150A>T (p.Lys26384Ter)
c.69004A>T (p.Lys23002Ter)
2g.178530360T>CCA349406403TTN,TTN-AS1c.98551A>G (p.Lys32851Glu)
c.79636A>G (p.Lys26546Glu)
c.79435A>G (p.Lys26479Glu)
c.79060A>G (p.Lys26354Glu)
c.106255A>G (p.Lys35419Glu)
c.101332A>G (p.Lys33778Glu)
n.446+6724T>C
n.220-5372T>C
c.105352A>G (p.Lys35118Glu)
c.79246A>G (p.Lys26416Glu)
c.79105A>G (p.Lys26369Glu)
c.105148A>G (p.Lys35050Glu)
c.100546A>G (p.Lys33516Glu)
c.100543A>G (p.Lys33515Glu)
c.97585A>G (p.Lys32529Glu)
c.79201A>G (p.Lys26401Glu)
c.100696A>G (p.Lys33566Glu)
c.100693A>G (p.Lys33565Glu)
c.100126A>G (p.Lys33376Glu)
c.97468A>G (p.Lys32490Glu)
c.97387A>G (p.Lys32463Glu)
c.79150A>G (p.Lys26384Glu)
c.69004A>G (p.Lys23002Glu)
2g.178530360T>GCA349406401TTN,TTN-AS1c.98551A>C (p.Lys32851Gln)
c.79636A>C (p.Lys26546Gln)
c.79435A>C (p.Lys26479Gln)
c.79060A>C (p.Lys26354Gln)
c.106255A>C (p.Lys35419Gln)
c.101332A>C (p.Lys33778Gln)
n.446+6724T>G
n.220-5372T>G
c.105352A>C (p.Lys35118Gln)
c.79246A>C (p.Lys26416Gln)
c.79105A>C (p.Lys26369Gln)
c.105148A>C (p.Lys35050Gln)
c.100546A>C (p.Lys33516Gln)
c.100543A>C (p.Lys33515Gln)
c.97585A>C (p.Lys32529Gln)
c.79201A>C (p.Lys26401Gln)
c.100696A>C (p.Lys33566Gln)
c.100693A>C (p.Lys33565Gln)
c.100126A>C (p.Lys33376Gln)
c.97468A>C (p.Lys32490Gln)
c.97387A>C (p.Lys32463Gln)
c.79150A>C (p.Lys26384Gln)
c.69004A>C (p.Lys23002Gln)
2g.178530361T>ACA430235216TTN,TTN-AS1c.98550A>T (p.Ser32850=)
c.79635A>T (p.Ser26545=)
c.79434A>T (p.Ser26478=)
c.79059A>T (p.Ser26353=)
c.106254A>T (p.Ser35418=)
c.101331A>T (p.Ser33777=)
n.446+6725T>A
n.220-5371T>A
c.105351A>T (p.Ser35117=)
c.79245A>T (p.Ser26415=)
c.79104A>T (p.Ser26368=)
c.105147A>T (p.Ser35049=)
c.100545A>T (p.Ser33515=)
c.100542A>T (p.Ser33514=)
c.97584A>T (p.Ser32528=)
c.79200A>T (p.Ser26400=)
c.100695A>T (p.Ser33565=)
c.100692A>T (p.Ser33564=)
c.100125A>T (p.Ser33375=)
c.97467A>T (p.Ser32489=)
c.97386A>T (p.Ser32462=)
c.79149A>T (p.Ser26383=)
c.69003A>T (p.Ser23001=)
2g.178530361T>CCA430235218TTN,TTN-AS1c.98550A>G (p.Ser32850=)
c.79635A>G (p.Ser26545=)
c.79434A>G (p.Ser26478=)
c.79059A>G (p.Ser26353=)
c.106254A>G (p.Ser35418=)
c.101331A>G (p.Ser33777=)
n.446+6725T>C
n.220-5371T>C
c.105351A>G (p.Ser35117=)
c.79245A>G (p.Ser26415=)
c.79104A>G (p.Ser26368=)
c.105147A>G (p.Ser35049=)
c.100545A>G (p.Ser33515=)
c.100542A>G (p.Ser33514=)
c.97584A>G (p.Ser32528=)
c.79200A>G (p.Ser26400=)
c.100695A>G (p.Ser33565=)
c.100692A>G (p.Ser33564=)
c.100125A>G (p.Ser33375=)
c.97467A>G (p.Ser32489=)
c.97386A>G (p.Ser32462=)
c.79149A>G (p.Ser26383=)
c.69003A>G (p.Ser23001=)
2g.178530361T>GCA430235220TTN,TTN-AS1c.98550A>C (p.Ser32850=)
c.79635A>C (p.Ser26545=)
c.79434A>C (p.Ser26478=)
c.79059A>C (p.Ser26353=)
c.106254A>C (p.Ser35418=)
c.101331A>C (p.Ser33777=)
n.446+6725T>G
n.220-5371T>G
c.105351A>C (p.Ser35117=)
c.79245A>C (p.Ser26415=)
c.79104A>C (p.Ser26368=)
c.105147A>C (p.Ser35049=)
c.100545A>C (p.Ser33515=)
c.100542A>C (p.Ser33514=)
c.97584A>C (p.Ser32528=)
c.79200A>C (p.Ser26400=)
c.100695A>C (p.Ser33565=)
c.100692A>C (p.Ser33564=)
c.100125A>C (p.Ser33375=)
c.97467A>C (p.Ser32489=)
c.97386A>C (p.Ser32462=)
c.79149A>C (p.Ser26383=)
c.69003A>C (p.Ser23001=)
2g.178530362G>ACA349406404TTN,TTN-AS1c.98549C>T (p.Ser32850Leu)
c.79634C>T (p.Ser26545Leu)
c.79433C>T (p.Ser26478Leu)
c.79058C>T (p.Ser26353Leu)
c.106253C>T (p.Ser35418Leu)
c.101330C>T (p.Ser33777Leu)
n.446+6726G>A
n.220-5370G>A
c.105350C>T (p.Ser35117Leu)
c.79244C>T (p.Ser26415Leu)
c.79103C>T (p.Ser26368Leu)
c.105146C>T (p.Ser35049Leu)
c.100544C>T (p.Ser33515Leu)
c.100541C>T (p.Ser33514Leu)
c.97583C>T (p.Ser32528Leu)
c.79199C>T (p.Ser26400Leu)
c.100694C>T (p.Ser33565Leu)
c.100691C>T (p.Ser33564Leu)
c.100124C>T (p.Ser33375Leu)
c.97466C>T (p.Ser32489Leu)
c.97385C>T (p.Ser32462Leu)
c.79148C>T (p.Ser26383Leu)
c.69002C>T (p.Ser23001Leu)
 ClinVar dbSNP
2g.178530362G>CCA349406405TTN,TTN-AS1c.98549C>G (p.Ser32850Ter)
c.79634C>G (p.Ser26545Ter)
c.79433C>G (p.Ser26478Ter)
c.79058C>G (p.Ser26353Ter)
c.106253C>G (p.Ser35418Ter)
c.101330C>G (p.Ser33777Ter)
n.446+6726G>C
n.220-5370G>C
c.105350C>G (p.Ser35117Ter)
c.79244C>G (p.Ser26415Ter)
c.79103C>G (p.Ser26368Ter)
c.105146C>G (p.Ser35049Ter)
c.100544C>G (p.Ser33515Ter)
c.100541C>G (p.Ser33514Ter)
c.97583C>G (p.Ser32528Ter)
c.79199C>G (p.Ser26400Ter)
c.100694C>G (p.Ser33565Ter)
c.100691C>G (p.Ser33564Ter)
c.100124C>G (p.Ser33375Ter)
c.97466C>G (p.Ser32489Ter)
c.97385C>G (p.Ser32462Ter)
c.79148C>G (p.Ser26383Ter)
c.69002C>G (p.Ser23001Ter)
 COSMIC COSMIC COSMIC COSMIC
2g.178530362G=CA1310514553TTN,TTN-AS1c.98549C= (p.Ser32850=)
c.79634C= (p.Ser26545=)
c.79433C= (p.Ser26478=)
c.79058C= (p.Ser26353=)
c.106253C= (p.Ser35418=)
c.101330C= (p.Ser33777=)
n.446+6726G=
n.220-5370G=
c.105350C= (p.Ser35117=)
c.79244C= (p.Ser26415=)
c.79103C= (p.Ser26368=)
c.105146C= (p.Ser35049=)
c.100544C= (p.Ser33515=)
c.100541C= (p.Ser33514=)
c.97583C= (p.Ser32528=)
c.79199C= (p.Ser26400=)
c.100694C= (p.Ser33565=)
c.100691C= (p.Ser33564=)
c.100124C= (p.Ser33375=)
c.97466C= (p.Ser32489=)
c.97385C= (p.Ser32462=)
c.79148C= (p.Ser26383=)
c.69002C= (p.Ser23001=)
2g.178530362G>TCA349406406TTN,TTN-AS1c.98549C>A (p.Ser32850Ter)
c.79634C>A (p.Ser26545Ter)
c.79433C>A (p.Ser26478Ter)
c.79058C>A (p.Ser26353Ter)
c.106253C>A (p.Ser35418Ter)
c.101330C>A (p.Ser33777Ter)
n.446+6726G>T
n.220-5370G>T
c.105350C>A (p.Ser35117Ter)
c.79244C>A (p.Ser26415Ter)
c.79103C>A (p.Ser26368Ter)
c.105146C>A (p.Ser35049Ter)
c.100544C>A (p.Ser33515Ter)
c.100541C>A (p.Ser33514Ter)
c.97583C>A (p.Ser32528Ter)
c.79199C>A (p.Ser26400Ter)
c.100694C>A (p.Ser33565Ter)
c.100691C>A (p.Ser33564Ter)
c.100124C>A (p.Ser33375Ter)
c.97466C>A (p.Ser32489Ter)
c.97385C>A (p.Ser32462Ter)
c.79148C>A (p.Ser26383Ter)
c.69002C>A (p.Ser23001Ter)
2g.178530363A>CCA349406407TTN,TTN-AS1c.98548T>G (p.Ser32850Ala)
c.79633T>G (p.Ser26545Ala)
c.79432T>G (p.Ser26478Ala)
c.79057T>G (p.Ser26353Ala)
c.106252T>G (p.Ser35418Ala)
c.101329T>G (p.Ser33777Ala)
n.446+6727A>C
n.220-5369A>C
c.105349T>G (p.Ser35117Ala)
c.79243T>G (p.Ser26415Ala)
c.79102T>G (p.Ser26368Ala)
c.105145T>G (p.Ser35049Ala)
c.100543T>G (p.Ser33515Ala)
c.100540T>G (p.Ser33514Ala)
c.97582T>G (p.Ser32528Ala)
c.79198T>G (p.Ser26400Ala)
c.100693T>G (p.Ser33565Ala)
c.100690T>G (p.Ser33564Ala)
c.100123T>G (p.Ser33375Ala)
c.97465T>G (p.Ser32489Ala)
c.97384T>G (p.Ser32462Ala)
c.79147T>G (p.Ser26383Ala)
c.69001T>G (p.Ser23001Ala)
2g.178530363A>GCA349406408TTN,TTN-AS1c.98548T>C (p.Ser32850Pro)
c.79633T>C (p.Ser26545Pro)
c.79432T>C (p.Ser26478Pro)
c.79057T>C (p.Ser26353Pro)
c.106252T>C (p.Ser35418Pro)
c.101329T>C (p.Ser33777Pro)
n.446+6727A>G
n.220-5369A>G
c.105349T>C (p.Ser35117Pro)
c.79243T>C (p.Ser26415Pro)
c.79102T>C (p.Ser26368Pro)
c.105145T>C (p.Ser35049Pro)
c.100543T>C (p.Ser33515Pro)
c.100540T>C (p.Ser33514Pro)
c.97582T>C (p.Ser32528Pro)
c.79198T>C (p.Ser26400Pro)
c.100693T>C (p.Ser33565Pro)
c.100690T>C (p.Ser33564Pro)
c.100123T>C (p.Ser33375Pro)
c.97465T>C (p.Ser32489Pro)
c.97384T>C (p.Ser32462Pro)
c.79147T>C (p.Ser26383Pro)
c.69001T>C (p.Ser23001Pro)
2g.178530363A>TCA349406409TTN,TTN-AS1c.98548T>A (p.Ser32850Thr)
c.79633T>A (p.Ser26545Thr)
c.79432T>A (p.Ser26478Thr)
c.79057T>A (p.Ser26353Thr)
c.106252T>A (p.Ser35418Thr)
c.101329T>A (p.Ser33777Thr)
n.446+6727A>T
n.220-5369A>T
c.105349T>A (p.Ser35117Thr)
c.79243T>A (p.Ser26415Thr)
c.79102T>A (p.Ser26368Thr)
c.105145T>A (p.Ser35049Thr)
c.100543T>A (p.Ser33515Thr)
c.100540T>A (p.Ser33514Thr)
c.97582T>A (p.Ser32528Thr)
c.79198T>A (p.Ser26400Thr)
c.100693T>A (p.Ser33565Thr)
c.100690T>A (p.Ser33564Thr)
c.100123T>A (p.Ser33375Thr)
c.97465T>A (p.Ser32489Thr)
c.97384T>A (p.Ser32462Thr)
c.79147T>A (p.Ser26383Thr)
c.69001T>A (p.Ser23001Thr)
2g.178530364G>ACA60953318TTN,TTN-AS1c.98547C>T (p.Ser32849=)
c.79632C>T (p.Ser26544=)
c.79431C>T (p.Ser26477=)
c.79056C>T (p.Ser26352=)
c.106251C>T (p.Ser35417=)
c.101328C>T (p.Ser33776=)
n.446+6728G>A
n.220-5368G>A
c.105348C>T (p.Ser35116=)
c.79242C>T (p.Ser26414=)
c.79101C>T (p.Ser26367=)
c.105144C>T (p.Ser35048=)
c.100542C>T (p.Ser33514=)
c.100539C>T (p.Ser33513=)
c.97581C>T (p.Ser32527=)
c.79197C>T (p.Ser26399=)
c.100692C>T (p.Ser33564=)
c.100689C>T (p.Ser33563=)
c.100122C>T (p.Ser33374=)
c.97464C>T (p.Ser32488=)
c.97383C>T (p.Ser32461=)
c.79146C>T (p.Ser26382=)
c.69000C>T (p.Ser23000=)
 dbSNP
2g.178530364G>CCA430235227TTN,TTN-AS1c.98547C>G (p.Ser32849=)
c.79632C>G (p.Ser26544=)
c.79431C>G (p.Ser26477=)
c.79056C>G (p.Ser26352=)
c.106251C>G (p.Ser35417=)
c.101328C>G (p.Ser33776=)
n.446+6728G>C
n.220-5368G>C
c.105348C>G (p.Ser35116=)
c.79242C>G (p.Ser26414=)
c.79101C>G (p.Ser26367=)
c.105144C>G (p.Ser35048=)
c.100542C>G (p.Ser33514=)
c.100539C>G (p.Ser33513=)
c.97581C>G (p.Ser32527=)
c.79197C>G (p.Ser26399=)
c.100692C>G (p.Ser33564=)
c.100689C>G (p.Ser33563=)
c.100122C>G (p.Ser33374=)
c.97464C>G (p.Ser32488=)
c.97383C>G (p.Ser32461=)
c.79146C>G (p.Ser26382=)
c.69000C>G (p.Ser23000=)
2g.178530364G=CA1310514555TTN,TTN-AS1c.98547C= (p.Ser32849=)
c.79632C= (p.Ser26544=)
c.79431C= (p.Ser26477=)
c.79056C= (p.Ser26352=)
c.106251C= (p.Ser35417=)
c.101328C= (p.Ser33776=)
n.446+6728G=
n.220-5368G=
c.105348C= (p.Ser35116=)
c.79242C= (p.Ser26414=)
c.79101C= (p.Ser26367=)
c.105144C= (p.Ser35048=)
c.100542C= (p.Ser33514=)
c.100539C= (p.Ser33513=)
c.97581C= (p.Ser32527=)
c.79197C= (p.Ser26399=)
c.100692C= (p.Ser33564=)
c.100689C= (p.Ser33563=)
c.100122C= (p.Ser33374=)
c.97464C= (p.Ser32488=)
c.97383C= (p.Ser32461=)
c.79146C= (p.Ser26382=)
c.69000C= (p.Ser23000=)
2g.178530364G>TCA430235228TTN,TTN-AS1c.98547C>A (p.Ser32849=)
c.79632C>A (p.Ser26544=)
c.79431C>A (p.Ser26477=)
c.79056C>A (p.Ser26352=)
c.106251C>A (p.Ser35417=)
c.101328C>A (p.Ser33776=)
n.446+6728G>T
n.220-5368G>T
c.105348C>A (p.Ser35116=)
c.79242C>A (p.Ser26414=)
c.79101C>A (p.Ser26367=)
c.105144C>A (p.Ser35048=)
c.100542C>A (p.Ser33514=)
c.100539C>A (p.Ser33513=)
c.97581C>A (p.Ser32527=)
c.79197C>A (p.Ser26399=)
c.100692C>A (p.Ser33564=)
c.100689C>A (p.Ser33563=)
c.100122C>A (p.Ser33374=)
c.97464C>A (p.Ser32488=)
c.97383C>A (p.Ser32461=)
c.79146C>A (p.Ser26382=)
c.69000C>A (p.Ser23000=)
2g.178530365G>ACA349406410TTN,TTN-AS1c.98546C>T (p.Ser32849Phe)
c.79631C>T (p.Ser26544Phe)
c.79430C>T (p.Ser26477Phe)
c.79055C>T (p.Ser26352Phe)
c.106250C>T (p.Ser35417Phe)
c.101327C>T (p.Ser33776Phe)
n.446+6729G>A
n.220-5367G>A
c.105347C>T (p.Ser35116Phe)
c.79241C>T (p.Ser26414Phe)
c.79100C>T (p.Ser26367Phe)
c.105143C>T (p.Ser35048Phe)
c.100541C>T (p.Ser33514Phe)
c.100538C>T (p.Ser33513Phe)
c.97580C>T (p.Ser32527Phe)
c.79196C>T (p.Ser26399Phe)
c.100691C>T (p.Ser33564Phe)
c.100688C>T (p.Ser33563Phe)
c.100121C>T (p.Ser33374Phe)
c.97463C>T (p.Ser32488Phe)
c.97382C>T (p.Ser32461Phe)
c.79145C>T (p.Ser26382Phe)
c.68999C>T (p.Ser23000Phe)
 dbSNP gnomAD v4
2g.178530365G>CCA349406411TTN,TTN-AS1c.98546C>G (p.Ser32849Cys)
c.79631C>G (p.Ser26544Cys)
c.79430C>G (p.Ser26477Cys)
c.79055C>G (p.Ser26352Cys)
c.106250C>G (p.Ser35417Cys)
c.101327C>G (p.Ser33776Cys)
n.446+6729G>C
n.220-5367G>C
c.105347C>G (p.Ser35116Cys)
c.79241C>G (p.Ser26414Cys)
c.79100C>G (p.Ser26367Cys)
c.105143C>G (p.Ser35048Cys)
c.100541C>G (p.Ser33514Cys)
c.100538C>G (p.Ser33513Cys)
c.97580C>G (p.Ser32527Cys)
c.79196C>G (p.Ser26399Cys)
c.100691C>G (p.Ser33564Cys)
c.100688C>G (p.Ser33563Cys)
c.100121C>G (p.Ser33374Cys)
c.97463C>G (p.Ser32488Cys)
c.97382C>G (p.Ser32461Cys)
c.79145C>G (p.Ser26382Cys)
c.68999C>G (p.Ser23000Cys)
2g.178530365G>TCA349406412TTN,TTN-AS1c.98546C>A (p.Ser32849Tyr)
c.79631C>A (p.Ser26544Tyr)
c.79430C>A (p.Ser26477Tyr)
c.79055C>A (p.Ser26352Tyr)
c.106250C>A (p.Ser35417Tyr)
c.101327C>A (p.Ser33776Tyr)
n.446+6729G>T
n.220-5367G>T
c.105347C>A (p.Ser35116Tyr)
c.79241C>A (p.Ser26414Tyr)
c.79100C>A (p.Ser26367Tyr)
c.105143C>A (p.Ser35048Tyr)
c.100541C>A (p.Ser33514Tyr)
c.100538C>A (p.Ser33513Tyr)
c.97580C>A (p.Ser32527Tyr)
c.79196C>A (p.Ser26399Tyr)
c.100691C>A (p.Ser33564Tyr)
c.100688C>A (p.Ser33563Tyr)
c.100121C>A (p.Ser33374Tyr)
c.97463C>A (p.Ser32488Tyr)
c.97382C>A (p.Ser32461Tyr)
c.79145C>A (p.Ser26382Tyr)
c.68999C>A (p.Ser23000Tyr)
2g.178530366A>CCA349406413TTN,TTN-AS1c.98545T>G (p.Ser32849Ala)
c.79630T>G (p.Ser26544Ala)
c.79429T>G (p.Ser26477Ala)
c.79054T>G (p.Ser26352Ala)
c.106249T>G (p.Ser35417Ala)
c.101326T>G (p.Ser33776Ala)
n.446+6730A>C
n.220-5366A>C
c.105346T>G (p.Ser35116Ala)
c.79240T>G (p.Ser26414Ala)
c.79099T>G (p.Ser26367Ala)
c.105142T>G (p.Ser35048Ala)
c.100540T>G (p.Ser33514Ala)
c.100537T>G (p.Ser33513Ala)
c.97579T>G (p.Ser32527Ala)
c.79195T>G (p.Ser26399Ala)
c.100690T>G (p.Ser33564Ala)
c.100687T>G (p.Ser33563Ala)
c.100120T>G (p.Ser33374Ala)
c.97462T>G (p.Ser32488Ala)
c.97381T>G (p.Ser32461Ala)
c.79144T>G (p.Ser26382Ala)
c.68998T>G (p.Ser23000Ala)
2g.178530366A>GCA349406414TTN,TTN-AS1c.98545T>C (p.Ser32849Pro)
c.79630T>C (p.Ser26544Pro)
c.79429T>C (p.Ser26477Pro)
c.79054T>C (p.Ser26352Pro)
c.106249T>C (p.Ser35417Pro)
c.101326T>C (p.Ser33776Pro)
n.446+6730A>G
n.220-5366A>G
c.105346T>C (p.Ser35116Pro)
c.79240T>C (p.Ser26414Pro)
c.79099T>C (p.Ser26367Pro)
c.105142T>C (p.Ser35048Pro)
c.100540T>C (p.Ser33514Pro)
c.100537T>C (p.Ser33513Pro)
c.97579T>C (p.Ser32527Pro)
c.79195T>C (p.Ser26399Pro)
c.100690T>C (p.Ser33564Pro)
c.100687T>C (p.Ser33563Pro)
c.100120T>C (p.Ser33374Pro)
c.97462T>C (p.Ser32488Pro)
c.97381T>C (p.Ser32461Pro)
c.79144T>C (p.Ser26382Pro)
c.68998T>C (p.Ser23000Pro)
2g.178530366A>TCA349406415TTN,TTN-AS1c.98545T>A (p.Ser32849Thr)
c.79630T>A (p.Ser26544Thr)
c.79429T>A (p.Ser26477Thr)
c.79054T>A (p.Ser26352Thr)
c.106249T>A (p.Ser35417Thr)
c.101326T>A (p.Ser33776Thr)
n.446+6730A>T
n.220-5366A>T
c.105346T>A (p.Ser35116Thr)
c.79240T>A (p.Ser26414Thr)
c.79099T>A (p.Ser26367Thr)
c.105142T>A (p.Ser35048Thr)
c.100540T>A (p.Ser33514Thr)
c.100537T>A (p.Ser33513Thr)
c.97579T>A (p.Ser32527Thr)
c.79195T>A (p.Ser26399Thr)
c.100690T>A (p.Ser33564Thr)
c.100687T>A (p.Ser33563Thr)
c.100120T>A (p.Ser33374Thr)
c.97462T>A (p.Ser32488Thr)
c.97381T>A (p.Ser32461Thr)
c.79144T>A (p.Ser26382Thr)
c.68998T>A (p.Ser23000Thr)
2g.178530367A>CCA349406417TTN,TTN-AS1c.98544T>G (p.Ile32848Met)
c.79629T>G (p.Ile26543Met)
c.79428T>G (p.Ile26476Met)
c.79053T>G (p.Ile26351Met)
c.106248T>G (p.Ile35416Met)
c.101325T>G (p.Ile33775Met)
n.446+6731A>C
n.220-5365A>C
c.105345T>G (p.Ile35115Met)
c.79239T>G (p.Ile26413Met)
c.79098T>G (p.Ile26366Met)
c.105141T>G (p.Ile35047Met)
c.100539T>G (p.Ile33513Met)
c.100536T>G (p.Ile33512Met)
c.97578T>G (p.Ile32526Met)
c.79194T>G (p.Ile26398Met)
c.100689T>G (p.Ile33563Met)
c.100686T>G (p.Ile33562Met)
c.100119T>G (p.Ile33373Met)
c.97461T>G (p.Ile32487Met)
c.97380T>G (p.Ile32460Met)
c.79143T>G (p.Ile26381Met)
c.68997T>G (p.Ile22999Met)
 gnomAD v4
2g.178530367A>GCA430235232TTN,TTN-AS1c.98544T>C (p.Ile32848=)
c.79629T>C (p.Ile26543=)
c.79428T>C (p.Ile26476=)
c.79053T>C (p.Ile26351=)
c.106248T>C (p.Ile35416=)
c.101325T>C (p.Ile33775=)
n.446+6731A>G
n.220-5365A>G
c.105345T>C (p.Ile35115=)
c.79239T>C (p.Ile26413=)
c.79098T>C (p.Ile26366=)
c.105141T>C (p.Ile35047=)
c.100539T>C (p.Ile33513=)
c.100536T>C (p.Ile33512=)
c.97578T>C (p.Ile32526=)
c.79194T>C (p.Ile26398=)
c.100689T>C (p.Ile33563=)
c.100686T>C (p.Ile33562=)
c.100119T>C (p.Ile33373=)
c.97461T>C (p.Ile32487=)
c.97380T>C (p.Ile32460=)
c.79143T>C (p.Ile26381=)
c.68997T>C (p.Ile22999=)
2g.178530367A>TCA430235231TTN,TTN-AS1c.98544T>A (p.Ile32848=)
c.79629T>A (p.Ile26543=)
c.79428T>A (p.Ile26476=)
c.79053T>A (p.Ile26351=)
c.106248T>A (p.Ile35416=)
c.101325T>A (p.Ile33775=)
n.446+6731A>T
n.220-5365A>T
c.105345T>A (p.Ile35115=)
c.79239T>A (p.Ile26413=)
c.79098T>A (p.Ile26366=)
c.105141T>A (p.Ile35047=)
c.100539T>A (p.Ile33513=)
c.100536T>A (p.Ile33512=)
c.97578T>A (p.Ile32526=)
c.79194T>A (p.Ile26398=)
c.100689T>A (p.Ile33563=)
c.100686T>A (p.Ile33562=)
c.100119T>A (p.Ile33373=)
c.97461T>A (p.Ile32487=)
c.97380T>A (p.Ile32460=)
c.79143T>A (p.Ile26381=)
c.68997T>A (p.Ile22999=)
2g.178530368A=CA1310514557TTN,TTN-AS1c.98543T= (p.Ile32848=)
c.79628T= (p.Ile26543=)
c.79427T= (p.Ile26476=)
c.79052T= (p.Ile26351=)
c.106247T= (p.Ile35416=)
c.101324T= (p.Ile33775=)
n.446+6732A=
n.220-5364A=
c.105344T= (p.Ile35115=)
c.79238T= (p.Ile26413=)
c.79097T= (p.Ile26366=)
c.105140T= (p.Ile35047=)
c.100538T= (p.Ile33513=)
c.100535T= (p.Ile33512=)
c.97577T= (p.Ile32526=)
c.79193T= (p.Ile26398=)
c.100688T= (p.Ile33563=)
c.100685T= (p.Ile33562=)
c.100118T= (p.Ile33373=)
c.97460T= (p.Ile32487=)
c.97379T= (p.Ile32460=)
c.79142T= (p.Ile26381=)
c.68996T= (p.Ile22999=)
2g.178530368A>CCA349406433TTN,TTN-AS1c.98543T>G (p.Ile32848Ser)
c.79628T>G (p.Ile26543Ser)
c.79427T>G (p.Ile26476Ser)
c.79052T>G (p.Ile26351Ser)
c.106247T>G (p.Ile35416Ser)
c.101324T>G (p.Ile33775Ser)
n.446+6732A>C
n.220-5364A>C
c.105344T>G (p.Ile35115Ser)
c.79238T>G (p.Ile26413Ser)
c.79097T>G (p.Ile26366Ser)
c.105140T>G (p.Ile35047Ser)
c.100538T>G (p.Ile33513Ser)
c.100535T>G (p.Ile33512Ser)
c.97577T>G (p.Ile32526Ser)
c.79193T>G (p.Ile26398Ser)
c.100688T>G (p.Ile33563Ser)
c.100685T>G (p.Ile33562Ser)
c.100118T>G (p.Ile33373Ser)
c.97460T>G (p.Ile32487Ser)
c.97379T>G (p.Ile32460Ser)
c.79142T>G (p.Ile26381Ser)
c.68996T>G (p.Ile22999Ser)
 gnomAD v4
2g.178530368A>GCA349406431TTN,TTN-AS1c.98543T>C (p.Ile32848Thr)
c.79628T>C (p.Ile26543Thr)
c.79427T>C (p.Ile26476Thr)
c.79052T>C (p.Ile26351Thr)
c.106247T>C (p.Ile35416Thr)
c.101324T>C (p.Ile33775Thr)
n.446+6732A>G
n.220-5364A>G
c.105344T>C (p.Ile35115Thr)
c.79238T>C (p.Ile26413Thr)
c.79097T>C (p.Ile26366Thr)
c.105140T>C (p.Ile35047Thr)
c.100538T>C (p.Ile33513Thr)
c.100535T>C (p.Ile33512Thr)
c.97577T>C (p.Ile32526Thr)
c.79193T>C (p.Ile26398Thr)
c.100688T>C (p.Ile33563Thr)
c.100685T>C (p.Ile33562Thr)
c.100118T>C (p.Ile33373Thr)
c.97460T>C (p.Ile32487Thr)
c.97379T>C (p.Ile32460Thr)
c.79142T>C (p.Ile26381Thr)
c.68996T>C (p.Ile22999Thr)
 dbSNP
2g.178530368A>TCA349406419TTN,TTN-AS1c.98543T>A (p.Ile32848Asn)
c.79628T>A (p.Ile26543Asn)
c.79427T>A (p.Ile26476Asn)
c.79052T>A (p.Ile26351Asn)
c.106247T>A (p.Ile35416Asn)
c.101324T>A (p.Ile33775Asn)
n.446+6732A>T
n.220-5364A>T
c.105344T>A (p.Ile35115Asn)
c.79238T>A (p.Ile26413Asn)
c.79097T>A (p.Ile26366Asn)
c.105140T>A (p.Ile35047Asn)
c.100538T>A (p.Ile33513Asn)
c.100535T>A (p.Ile33512Asn)
c.97577T>A (p.Ile32526Asn)
c.79193T>A (p.Ile26398Asn)
c.100688T>A (p.Ile33563Asn)
c.100685T>A (p.Ile33562Asn)
c.100118T>A (p.Ile33373Asn)
c.97460T>A (p.Ile32487Asn)
c.97379T>A (p.Ile32460Asn)
c.79142T>A (p.Ile26381Asn)
c.68996T>A (p.Ile22999Asn)
2g.178530368_178530383delinsATTGGTTCAGGAGCTTCA1310514558TTN,TTN-AS1c.98528_98543delinsAAGCTCCTGAACCAAT (p.Lys32843=)
c.79613_79628delinsAAGCTCCTGAACCAAT (p.Lys26538=)
c.79412_79427delinsAAGCTCCTGAACCAAT (p.Lys26471=)
c.79037_79052delinsAAGCTCCTGAACCAAT (p.Lys26346=)
c.106232_106247delinsAAGCTCCTGAACCAAT (p.Lys35411=)
c.101309_101324delinsAAGCTCCTGAACCAAT (p.Lys33770=)
n.446+6732_446+6747delinsATTGGTTCAGGAGCTT
n.220-5364_220-5349delinsATTGGTTCAGGAGCTT
c.105329_105344delinsAAGCTCCTGAACCAAT (p.Lys35110=)
c.79223_79238delinsAAGCTCCTGAACCAAT (p.Lys26408=)
c.79082_79097delinsAAGCTCCTGAACCAAT (p.Lys26361=)
c.105125_105140delinsAAGCTCCTGAACCAAT (p.Lys35042=)
c.100523_100538delinsAAGCTCCTGAACCAAT (p.Lys33508=)
c.100520_100535delinsAAGCTCCTGAACCAAT (p.Lys33507=)
c.97562_97577delinsAAGCTCCTGAACCAAT (p.Lys32521=)
c.79178_79193delinsAAGCTCCTGAACCAAT (p.Lys26393=)
c.100673_100688delinsAAGCTCCTGAACCAAT (p.Lys33558=)
c.100670_100685delinsAAGCTCCTGAACCAAT (p.Lys33557=)
c.100103_100118delinsAAGCTCCTGAACCAAT (p.Lys33368=)
c.97445_97460delinsAAGCTCCTGAACCAAT (p.Lys32482=)
c.97364_97379delinsAAGCTCCTGAACCAAT (p.Lys32455=)
c.79127_79142delinsAAGCTCCTGAACCAAT (p.Lys26376=)
c.68981_68996delinsAAGCTCCTGAACCAAT (p.Lys22994=)
2g.178530369T>ACA349406437TTN,TTN-AS1c.98542A>T (p.Ile32848Phe)
c.79627A>T (p.Ile26543Phe)
c.79426A>T (p.Ile26476Phe)
c.79051A>T (p.Ile26351Phe)
c.106246A>T (p.Ile35416Phe)
c.101323A>T (p.Ile33775Phe)
n.446+6733T>A
n.220-5363T>A
c.105343A>T (p.Ile35115Phe)
c.79237A>T (p.Ile26413Phe)
c.79096A>T (p.Ile26366Phe)
c.105139A>T (p.Ile35047Phe)
c.100537A>T (p.Ile33513Phe)
c.100534A>T (p.Ile33512Phe)
c.97576A>T (p.Ile32526Phe)
c.79192A>T (p.Ile26398Phe)
c.100687A>T (p.Ile33563Phe)
c.100684A>T (p.Ile33562Phe)
c.100117A>T (p.Ile33373Phe)
c.97459A>T (p.Ile32487Phe)
c.97378A>T (p.Ile32460Phe)
c.79141A>T (p.Ile26381Phe)
c.68995A>T (p.Ile22999Phe)
2g.178530369T>CCA349406438TTN,TTN-AS1c.98542A>G (p.Ile32848Val)
c.79627A>G (p.Ile26543Val)
c.79426A>G (p.Ile26476Val)
c.79051A>G (p.Ile26351Val)
c.106246A>G (p.Ile35416Val)
c.101323A>G (p.Ile33775Val)
n.446+6733T>C
n.220-5363T>C
c.105343A>G (p.Ile35115Val)
c.79237A>G (p.Ile26413Val)
c.79096A>G (p.Ile26366Val)
c.105139A>G (p.Ile35047Val)
c.100537A>G (p.Ile33513Val)
c.100534A>G (p.Ile33512Val)
c.97576A>G (p.Ile32526Val)
c.79192A>G (p.Ile26398Val)
c.100687A>G (p.Ile33563Val)
c.100684A>G (p.Ile33562Val)
c.100117A>G (p.Ile33373Val)
c.97459A>G (p.Ile32487Val)
c.97378A>G (p.Ile32460Val)
c.79141A>G (p.Ile26381Val)
c.68995A>G (p.Ile22999Val)
2g.178530369T>GCA349406439TTN,TTN-AS1c.98542A>C (p.Ile32848Leu)
c.79627A>C (p.Ile26543Leu)
c.79426A>C (p.Ile26476Leu)
c.79051A>C (p.Ile26351Leu)
c.106246A>C (p.Ile35416Leu)
c.101323A>C (p.Ile33775Leu)
n.446+6733T>G
n.220-5363T>G
c.105343A>C (p.Ile35115Leu)
c.79237A>C (p.Ile26413Leu)
c.79096A>C (p.Ile26366Leu)
c.105139A>C (p.Ile35047Leu)
c.100537A>C (p.Ile33513Leu)
c.100534A>C (p.Ile33512Leu)
c.97576A>C (p.Ile32526Leu)
c.79192A>C (p.Ile26398Leu)
c.100687A>C (p.Ile33563Leu)
c.100684A>C (p.Ile33562Leu)
c.100117A>C (p.Ile33373Leu)
c.97459A>C (p.Ile32487Leu)
c.97378A>C (p.Ile32460Leu)
c.79141A>C (p.Ile26381Leu)
c.68995A>C (p.Ile22999Leu)
2g.178530378_178530392delCA538434977TTN,TTN-AS1c.98528_98542del (p.Lys32843_Pro32847del)
c.79613_79627del (p.Lys26538_Pro26542del)
c.79412_79426del (p.Lys26471_Pro26475del)
c.79037_79051del (p.Lys26346_Pro26350del)
c.106232_106246del (p.Lys35411_Pro35415del)
c.101309_101323del (p.Lys33770_Pro33774del)
n.446+6742_446+6756del
n.220-5354_220-5340del
c.105329_105343del (p.Lys35110_Pro35114del)
c.79223_79237del (p.Lys26408_Pro26412del)
c.79082_79096del (p.Lys26361_Pro26365del)
c.105125_105139del (p.Lys35042_Pro35046del)
c.100523_100537del (p.Lys33508_Pro33512del)
c.100520_100534del (p.Lys33507_Pro33511del)
c.97562_97576del (p.Lys32521_Pro32525del)
c.79178_79192del (p.Lys26393_Pro26397del)
c.100673_100687del (p.Lys33558_Pro33562del)
c.100670_100684del (p.Lys33557_Pro33561del)
c.100103_100117del (p.Lys33368_Pro33372del)
c.97445_97459del (p.Lys32482_Pro32486del)
c.97364_97378del (p.Lys32455_Pro32459del)
c.79127_79141del (p.Lys26376_Pro26380del)
c.68981_68995del (p.Lys22994_Pro22998del)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched