Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178609669T>ACA1994130TTN,TTN-AS1c.44035+15A>T (n.44035+15A>T)
c.25120+15A>T (n.25120+15A>T)
c.24919+15A>T (n.24919+15A>T)
c.24544+15A>T (n.24544+15A>T)
c.51739+15A>T (n.51739+15A>T)
c.46816+15A>T (n.46816+15A>T)
n.782+1403T>A
c.50836+15A>T (n.50836+15A>T)
c.24730+15A>T (n.24730+15A>T)
c.24589+15A>T (n.24589+15A>T)
c.50632+15A>T (n.50632+15A>T)
c.46030+15A>T (n.46030+15A>T)
c.46027+15A>T (n.46027+15A>T)
c.43069+15A>T (n.43069+15A>T)
c.24685+15A>T (n.24685+15A>T)
c.46180+15A>T (n.46180+15A>T)
c.46177+15A>T (n.46177+15A>T)
c.45610+15A>T (n.45610+15A>T)
c.42952+15A>T (n.42952+15A>T)
c.42871+15A>T (n.42871+15A>T)
c.24634+15A>T (n.24634+15A>T)
c.14488+15A>T (n.14488+15A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178609669T=CA1310546513TTN,TTN-AS1c.44035+15A= (n.44035+15A=)
c.25120+15A= (n.25120+15A=)
c.24919+15A= (n.24919+15A=)
c.24544+15A= (n.24544+15A=)
c.51739+15A= (n.51739+15A=)
c.46816+15A= (n.46816+15A=)
n.782+1403T=
c.50836+15A= (n.50836+15A=)
c.24730+15A= (n.24730+15A=)
c.24589+15A= (n.24589+15A=)
c.50632+15A= (n.50632+15A=)
c.46030+15A= (n.46030+15A=)
c.46027+15A= (n.46027+15A=)
c.43069+15A= (n.43069+15A=)
c.24685+15A= (n.24685+15A=)
c.46180+15A= (n.46180+15A=)
c.46177+15A= (n.46177+15A=)
c.45610+15A= (n.45610+15A=)
c.42952+15A= (n.42952+15A=)
c.42871+15A= (n.42871+15A=)
c.24634+15A= (n.24634+15A=)
c.14488+15A= (n.14488+15A=)
2g.178609670G=CA1310546514TTN,TTN-AS1c.44035+14C= (n.44035+14C=)
c.25120+14C= (n.25120+14C=)
c.24919+14C= (n.24919+14C=)
c.24544+14C= (n.24544+14C=)
c.51739+14C= (n.51739+14C=)
c.46816+14C= (n.46816+14C=)
n.782+1404G=
c.50836+14C= (n.50836+14C=)
c.24730+14C= (n.24730+14C=)
c.24589+14C= (n.24589+14C=)
c.50632+14C= (n.50632+14C=)
c.46030+14C= (n.46030+14C=)
c.46027+14C= (n.46027+14C=)
c.43069+14C= (n.43069+14C=)
c.24685+14C= (n.24685+14C=)
c.46180+14C= (n.46180+14C=)
c.46177+14C= (n.46177+14C=)
c.45610+14C= (n.45610+14C=)
c.42952+14C= (n.42952+14C=)
c.42871+14C= (n.42871+14C=)
c.24634+14C= (n.24634+14C=)
c.14488+14C= (n.14488+14C=)
2g.178609670G>TCA295830TTN,TTN-AS1c.44035+14C>A (n.44035+14C>A)
c.25120+14C>A (n.25120+14C>A)
c.24919+14C>A (n.24919+14C>A)
c.24544+14C>A (n.24544+14C>A)
c.51739+14C>A (n.51739+14C>A)
c.46816+14C>A (n.46816+14C>A)
n.782+1404G>T
c.50836+14C>A (n.50836+14C>A)
c.24730+14C>A (n.24730+14C>A)
c.24589+14C>A (n.24589+14C>A)
c.50632+14C>A (n.50632+14C>A)
c.46030+14C>A (n.46030+14C>A)
c.46027+14C>A (n.46027+14C>A)
c.43069+14C>A (n.43069+14C>A)
c.24685+14C>A (n.24685+14C>A)
c.46180+14C>A (n.46180+14C>A)
c.46177+14C>A (n.46177+14C>A)
c.45610+14C>A (n.45610+14C>A)
c.42952+14C>A (n.42952+14C>A)
c.42871+14C>A (n.42871+14C>A)
c.24634+14C>A (n.24634+14C>A)
c.14488+14C>A (n.14488+14C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178609674C>TCA2577171227TTN,TTN-AS1c.44035+10G>A (n.44035+10G>A)
c.25120+10G>A (n.25120+10G>A)
c.24919+10G>A (n.24919+10G>A)
c.24544+10G>A (n.24544+10G>A)
c.51739+10G>A (n.51739+10G>A)
c.46816+10G>A (n.46816+10G>A)
n.782+1408C>T
c.50836+10G>A (n.50836+10G>A)
c.24730+10G>A (n.24730+10G>A)
c.24589+10G>A (n.24589+10G>A)
c.50632+10G>A (n.50632+10G>A)
c.46030+10G>A (n.46030+10G>A)
c.46027+10G>A (n.46027+10G>A)
c.43069+10G>A (n.43069+10G>A)
c.24685+10G>A (n.24685+10G>A)
c.46180+10G>A (n.46180+10G>A)
c.46177+10G>A (n.46177+10G>A)
c.45610+10G>A (n.45610+10G>A)
c.42952+10G>A (n.42952+10G>A)
c.42871+10G>A (n.42871+10G>A)
c.24634+10G>A (n.24634+10G>A)
c.14488+10G>A (n.14488+10G>A)
 ClinVar gnomAD v4
2g.178609675A>TCA2740096125TTN,TTN-AS1c.44035+9T>A (n.44035+9T>A)
c.25120+9T>A (n.25120+9T>A)
c.24919+9T>A (n.24919+9T>A)
c.24544+9T>A (n.24544+9T>A)
c.51739+9T>A (n.51739+9T>A)
c.46816+9T>A (n.46816+9T>A)
n.782+1409A>T
c.50836+9T>A (n.50836+9T>A)
c.24730+9T>A (n.24730+9T>A)
c.24589+9T>A (n.24589+9T>A)
c.50632+9T>A (n.50632+9T>A)
c.46030+9T>A (n.46030+9T>A)
c.46027+9T>A (n.46027+9T>A)
c.43069+9T>A (n.43069+9T>A)
c.24685+9T>A (n.24685+9T>A)
c.46180+9T>A (n.46180+9T>A)
c.46177+9T>A (n.46177+9T>A)
c.45610+9T>A (n.45610+9T>A)
c.42952+9T>A (n.42952+9T>A)
c.42871+9T>A (n.42871+9T>A)
c.24634+9T>A (n.24634+9T>A)
c.14488+9T>A (n.14488+9T>A)
 ClinVar
2g.178609679C>ACA2662134969TTN,TTN-AS1c.44035+5G>T (n.44035+5G>T)
c.25120+5G>T (n.25120+5G>T)
c.24919+5G>T (n.24919+5G>T)
c.24544+5G>T (n.24544+5G>T)
c.51739+5G>T (n.51739+5G>T)
c.46816+5G>T (n.46816+5G>T)
n.782+1413C>A
c.50836+5G>T (n.50836+5G>T)
c.24730+5G>T (n.24730+5G>T)
c.24589+5G>T (n.24589+5G>T)
c.50632+5G>T (n.50632+5G>T)
c.46030+5G>T (n.46030+5G>T)
c.46027+5G>T (n.46027+5G>T)
c.43069+5G>T (n.43069+5G>T)
c.24685+5G>T (n.24685+5G>T)
c.46180+5G>T (n.46180+5G>T)
c.46177+5G>T (n.46177+5G>T)
c.45610+5G>T (n.45610+5G>T)
c.42952+5G>T (n.42952+5G>T)
c.42871+5G>T (n.42871+5G>T)
c.24634+5G>T (n.24634+5G>T)
c.14488+5G>T (n.14488+5G>T)
 gnomAD v4
2g.178609681T>CCA2580064987TTN,TTN-AS1c.44035+3A>G (n.44035+3A>G)
c.25120+3A>G (n.25120+3A>G)
c.24919+3A>G (n.24919+3A>G)
c.24544+3A>G (n.24544+3A>G)
c.51739+3A>G (n.51739+3A>G)
c.46816+3A>G (n.46816+3A>G)
n.782+1415T>C
c.50836+3A>G (n.50836+3A>G)
c.24730+3A>G (n.24730+3A>G)
c.24589+3A>G (n.24589+3A>G)
c.50632+3A>G (n.50632+3A>G)
c.46030+3A>G (n.46030+3A>G)
c.46027+3A>G (n.46027+3A>G)
c.43069+3A>G (n.43069+3A>G)
c.24685+3A>G (n.24685+3A>G)
c.46180+3A>G (n.46180+3A>G)
c.46177+3A>G (n.46177+3A>G)
c.45610+3A>G (n.45610+3A>G)
c.42952+3A>G (n.42952+3A>G)
c.42871+3A>G (n.42871+3A>G)
c.24634+3A>G (n.24634+3A>G)
c.14488+3A>G (n.14488+3A>G)
 ClinVar gnomAD v4
2g.178609682A>CCA349582487TTN,TTN-AS1c.44035+2T>G (n.44035+2T>G)
c.25120+2T>G (n.25120+2T>G)
c.24919+2T>G (n.24919+2T>G)
c.24544+2T>G (n.24544+2T>G)
c.51739+2T>G (n.51739+2T>G)
c.46816+2T>G (n.46816+2T>G)
n.782+1416A>C
c.50836+2T>G (n.50836+2T>G)
c.24730+2T>G (n.24730+2T>G)
c.24589+2T>G (n.24589+2T>G)
c.50632+2T>G (n.50632+2T>G)
c.46030+2T>G (n.46030+2T>G)
c.46027+2T>G (n.46027+2T>G)
c.43069+2T>G (n.43069+2T>G)
c.24685+2T>G (n.24685+2T>G)
c.46180+2T>G (n.46180+2T>G)
c.46177+2T>G (n.46177+2T>G)
c.45610+2T>G (n.45610+2T>G)
c.42952+2T>G (n.42952+2T>G)
c.42871+2T>G (n.42871+2T>G)
c.24634+2T>G (n.24634+2T>G)
c.14488+2T>G (n.14488+2T>G)
2g.178609682A>GCA349582491TTN,TTN-AS1c.44035+2T>C (n.44035+2T>C)
c.25120+2T>C (n.25120+2T>C)
c.24919+2T>C (n.24919+2T>C)
c.24544+2T>C (n.24544+2T>C)
c.51739+2T>C (n.51739+2T>C)
c.46816+2T>C (n.46816+2T>C)
n.782+1416A>G
c.50836+2T>C (n.50836+2T>C)
c.24730+2T>C (n.24730+2T>C)
c.24589+2T>C (n.24589+2T>C)
c.50632+2T>C (n.50632+2T>C)
c.46030+2T>C (n.46030+2T>C)
c.46027+2T>C (n.46027+2T>C)
c.43069+2T>C (n.43069+2T>C)
c.24685+2T>C (n.24685+2T>C)
c.46180+2T>C (n.46180+2T>C)
c.46177+2T>C (n.46177+2T>C)
c.45610+2T>C (n.45610+2T>C)
c.42952+2T>C (n.42952+2T>C)
c.42871+2T>C (n.42871+2T>C)
c.24634+2T>C (n.24634+2T>C)
c.14488+2T>C (n.14488+2T>C)
2g.178609682A>TCA349582505TTN,TTN-AS1c.44035+2T>A (n.44035+2T>A)
c.25120+2T>A (n.25120+2T>A)
c.24919+2T>A (n.24919+2T>A)
c.24544+2T>A (n.24544+2T>A)
c.51739+2T>A (n.51739+2T>A)
c.46816+2T>A (n.46816+2T>A)
n.782+1416A>T
c.50836+2T>A (n.50836+2T>A)
c.24730+2T>A (n.24730+2T>A)
c.24589+2T>A (n.24589+2T>A)
c.50632+2T>A (n.50632+2T>A)
c.46030+2T>A (n.46030+2T>A)
c.46027+2T>A (n.46027+2T>A)
c.43069+2T>A (n.43069+2T>A)
c.24685+2T>A (n.24685+2T>A)
c.46180+2T>A (n.46180+2T>A)
c.46177+2T>A (n.46177+2T>A)
c.45610+2T>A (n.45610+2T>A)
c.42952+2T>A (n.42952+2T>A)
c.42871+2T>A (n.42871+2T>A)
c.24634+2T>A (n.24634+2T>A)
c.14488+2T>A (n.14488+2T>A)
2g.178609683C>ACA349582517TTN,TTN-AS1c.44035+1G>T (n.44035+1G>T)
c.25120+1G>T (n.25120+1G>T)
c.24919+1G>T (n.24919+1G>T)
c.24544+1G>T (n.24544+1G>T)
c.51739+1G>T (n.51739+1G>T)
c.46816+1G>T (n.46816+1G>T)
n.782+1417C>A
c.50836+1G>T (n.50836+1G>T)
c.24730+1G>T (n.24730+1G>T)
c.24589+1G>T (n.24589+1G>T)
c.50632+1G>T (n.50632+1G>T)
c.46030+1G>T (n.46030+1G>T)
c.46027+1G>T (n.46027+1G>T)
c.43069+1G>T (n.43069+1G>T)
c.24685+1G>T (n.24685+1G>T)
c.46180+1G>T (n.46180+1G>T)
c.46177+1G>T (n.46177+1G>T)
c.45610+1G>T (n.45610+1G>T)
c.42952+1G>T (n.42952+1G>T)
c.42871+1G>T (n.42871+1G>T)
c.24634+1G>T (n.24634+1G>T)
c.14488+1G>T (n.14488+1G>T)
2g.178609683C=CA1310546517TTN,TTN-AS1c.44035+1G= (n.44035+1G=)
c.25120+1G= (n.25120+1G=)
c.24919+1G= (n.24919+1G=)
c.24544+1G= (n.24544+1G=)
c.51739+1G= (n.51739+1G=)
c.46816+1G= (n.46816+1G=)
n.782+1417C=
c.50836+1G= (n.50836+1G=)
c.24730+1G= (n.24730+1G=)
c.24589+1G= (n.24589+1G=)
c.50632+1G= (n.50632+1G=)
c.46030+1G= (n.46030+1G=)
c.46027+1G= (n.46027+1G=)
c.43069+1G= (n.43069+1G=)
c.24685+1G= (n.24685+1G=)
c.46180+1G= (n.46180+1G=)
c.46177+1G= (n.46177+1G=)
c.45610+1G= (n.45610+1G=)
c.42952+1G= (n.42952+1G=)
c.42871+1G= (n.42871+1G=)
c.24634+1G= (n.24634+1G=)
c.14488+1G= (n.14488+1G=)
2g.178609683C>GCA273614TTN,TTN-AS1c.44035+1G>C (n.44035+1G>C)
c.25120+1G>C (n.25120+1G>C)
c.24919+1G>C (n.24919+1G>C)
c.24544+1G>C (n.24544+1G>C)
c.51739+1G>C (n.51739+1G>C)
c.46816+1G>C (n.46816+1G>C)
n.782+1417C>G
c.50836+1G>C (n.50836+1G>C)
c.24730+1G>C (n.24730+1G>C)
c.24589+1G>C (n.24589+1G>C)
c.50632+1G>C (n.50632+1G>C)
c.46030+1G>C (n.46030+1G>C)
c.46027+1G>C (n.46027+1G>C)
c.43069+1G>C (n.43069+1G>C)
c.24685+1G>C (n.24685+1G>C)
c.46180+1G>C (n.46180+1G>C)
c.46177+1G>C (n.46177+1G>C)
c.45610+1G>C (n.45610+1G>C)
c.42952+1G>C (n.42952+1G>C)
c.42871+1G>C (n.42871+1G>C)
c.24634+1G>C (n.24634+1G>C)
c.14488+1G>C (n.14488+1G>C)
 ClinVar dbSNP gnomAD v4
2g.178609683C>TCA349582521TTN,TTN-AS1c.44035+1G>A (n.44035+1G>A)
c.25120+1G>A (n.25120+1G>A)
c.24919+1G>A (n.24919+1G>A)
c.24544+1G>A (n.24544+1G>A)
c.51739+1G>A (n.51739+1G>A)
c.46816+1G>A (n.46816+1G>A)
n.782+1417C>T
c.50836+1G>A (n.50836+1G>A)
c.24730+1G>A (n.24730+1G>A)
c.24589+1G>A (n.24589+1G>A)
c.50632+1G>A (n.50632+1G>A)
c.46030+1G>A (n.46030+1G>A)
c.46027+1G>A (n.46027+1G>A)
c.43069+1G>A (n.43069+1G>A)
c.24685+1G>A (n.24685+1G>A)
c.46180+1G>A (n.46180+1G>A)
c.46177+1G>A (n.46177+1G>A)
c.45610+1G>A (n.45610+1G>A)
c.42952+1G>A (n.42952+1G>A)
c.42871+1G>A (n.42871+1G>A)
c.24634+1G>A (n.24634+1G>A)
c.14488+1G>A (n.14488+1G>A)
 gnomAD v4
2g.178609684C>ACA349582532TTN,TTN-AS1c.44035G>T (p.Asp14679Tyr)
c.25120G>T (p.Asp8374Tyr)
c.24919G>T (p.Asp8307Tyr)
c.24544G>T (p.Asp8182Tyr)
c.51739G>T (p.Asp17247Tyr)
c.46816G>T (p.Asp15606Tyr)
n.782+1418C>A
c.50836G>T (p.Asp16946Tyr)
c.24730G>T (p.Asp8244Tyr)
c.24589G>T (p.Asp8197Tyr)
c.50632G>T (p.Asp16878Tyr)
c.46030G>T (p.Asp15344Tyr)
c.46027G>T (p.Asp15343Tyr)
c.43069G>T (p.Asp14357Tyr)
c.24685G>T (p.Asp8229Tyr)
c.46180G>T (p.Asp15394Tyr)
c.46177G>T (p.Asp15393Tyr)
c.45610G>T (p.Asp15204Tyr)
c.42952G>T (p.Asp14318Tyr)
c.42871G>T (p.Asp14291Tyr)
c.24634G>T (p.Asp8212Tyr)
c.14488G>T (p.Asp4830Tyr)
2g.178609684C>GCA349582529TTN,TTN-AS1c.44035G>C (p.Asp14679His)
c.25120G>C (p.Asp8374His)
c.24919G>C (p.Asp8307His)
c.24544G>C (p.Asp8182His)
c.51739G>C (p.Asp17247His)
c.46816G>C (p.Asp15606His)
n.782+1418C>G
c.50836G>C (p.Asp16946His)
c.24730G>C (p.Asp8244His)
c.24589G>C (p.Asp8197His)
c.50632G>C (p.Asp16878His)
c.46030G>C (p.Asp15344His)
c.46027G>C (p.Asp15343His)
c.43069G>C (p.Asp14357His)
c.24685G>C (p.Asp8229His)
c.46180G>C (p.Asp15394His)
c.46177G>C (p.Asp15393His)
c.45610G>C (p.Asp15204His)
c.42952G>C (p.Asp14318His)
c.42871G>C (p.Asp14291His)
c.24634G>C (p.Asp8212His)
c.14488G>C (p.Asp4830His)
2g.178609684C>TCA349582530TTN,TTN-AS1c.44035G>A (p.Asp14679Asn)
c.25120G>A (p.Asp8374Asn)
c.24919G>A (p.Asp8307Asn)
c.24544G>A (p.Asp8182Asn)
c.51739G>A (p.Asp17247Asn)
c.46816G>A (p.Asp15606Asn)
n.782+1418C>T
c.50836G>A (p.Asp16946Asn)
c.24730G>A (p.Asp8244Asn)
c.24589G>A (p.Asp8197Asn)
c.50632G>A (p.Asp16878Asn)
c.46030G>A (p.Asp15344Asn)
c.46027G>A (p.Asp15343Asn)
c.43069G>A (p.Asp14357Asn)
c.24685G>A (p.Asp8229Asn)
c.46180G>A (p.Asp15394Asn)
c.46177G>A (p.Asp15393Asn)
c.45610G>A (p.Asp15204Asn)
c.42952G>A (p.Asp14318Asn)
c.42871G>A (p.Asp14291Asn)
c.24634G>A (p.Asp8212Asn)
c.14488G>A (p.Asp4830Asn)
2g.178609685A>CCA349582533TTN,TTN-AS1c.44034T>G (p.Ile14678Met)
c.25119T>G (p.Ile8373Met)
c.24918T>G (p.Ile8306Met)
c.24543T>G (p.Ile8181Met)
c.51738T>G (p.Ile17246Met)
c.46815T>G (p.Ile15605Met)
n.782+1419A>C
c.50835T>G (p.Ile16945Met)
c.24729T>G (p.Ile8243Met)
c.24588T>G (p.Ile8196Met)
c.50631T>G (p.Ile16877Met)
c.46029T>G (p.Ile15343Met)
c.46026T>G (p.Ile15342Met)
c.43068T>G (p.Ile14356Met)
c.24684T>G (p.Ile8228Met)
c.46179T>G (p.Ile15393Met)
c.46176T>G (p.Ile15392Met)
c.45609T>G (p.Ile15203Met)
c.42951T>G (p.Ile14317Met)
c.42870T>G (p.Ile14290Met)
c.24633T>G (p.Ile8211Met)
c.14487T>G (p.Ile4829Met)
2g.178609685A>GCA430271545TTN,TTN-AS1c.44034T>C (p.Ile14678=)
c.25119T>C (p.Ile8373=)
c.24918T>C (p.Ile8306=)
c.24543T>C (p.Ile8181=)
c.51738T>C (p.Ile17246=)
c.46815T>C (p.Ile15605=)
n.782+1419A>G
c.50835T>C (p.Ile16945=)
c.24729T>C (p.Ile8243=)
c.24588T>C (p.Ile8196=)
c.50631T>C (p.Ile16877=)
c.46029T>C (p.Ile15343=)
c.46026T>C (p.Ile15342=)
c.43068T>C (p.Ile14356=)
c.24684T>C (p.Ile8228=)
c.46179T>C (p.Ile15393=)
c.46176T>C (p.Ile15392=)
c.45609T>C (p.Ile15203=)
c.42951T>C (p.Ile14317=)
c.42870T>C (p.Ile14290=)
c.24633T>C (p.Ile8211=)
c.14487T>C (p.Ile4829=)
2g.178609685A>TCA430271546TTN,TTN-AS1c.44034T>A (p.Ile14678=)
c.25119T>A (p.Ile8373=)
c.24918T>A (p.Ile8306=)
c.24543T>A (p.Ile8181=)
c.51738T>A (p.Ile17246=)
c.46815T>A (p.Ile15605=)
n.782+1419A>T
c.50835T>A (p.Ile16945=)
c.24729T>A (p.Ile8243=)
c.24588T>A (p.Ile8196=)
c.50631T>A (p.Ile16877=)
c.46029T>A (p.Ile15343=)
c.46026T>A (p.Ile15342=)
c.43068T>A (p.Ile14356=)
c.24684T>A (p.Ile8228=)
c.46179T>A (p.Ile15393=)
c.46176T>A (p.Ile15392=)
c.45609T>A (p.Ile15203=)
c.42951T>A (p.Ile14317=)
c.42870T>A (p.Ile14290=)
c.24633T>A (p.Ile8211=)
c.14487T>A (p.Ile4829=)
2g.178609686A>CCA349582537TTN,TTN-AS1c.44033T>G (p.Ile14678Ser)
c.25118T>G (p.Ile8373Ser)
c.24917T>G (p.Ile8306Ser)
c.24542T>G (p.Ile8181Ser)
c.51737T>G (p.Ile17246Ser)
c.46814T>G (p.Ile15605Ser)
n.782+1420A>C
c.50834T>G (p.Ile16945Ser)
c.24728T>G (p.Ile8243Ser)
c.24587T>G (p.Ile8196Ser)
c.50630T>G (p.Ile16877Ser)
c.46028T>G (p.Ile15343Ser)
c.46025T>G (p.Ile15342Ser)
c.43067T>G (p.Ile14356Ser)
c.24683T>G (p.Ile8228Ser)
c.46178T>G (p.Ile15393Ser)
c.46175T>G (p.Ile15392Ser)
c.45608T>G (p.Ile15203Ser)
c.42950T>G (p.Ile14317Ser)
c.42869T>G (p.Ile14290Ser)
c.24632T>G (p.Ile8211Ser)
c.14486T>G (p.Ile4829Ser)
2g.178609686A>GCA349582538TTN,TTN-AS1c.44033T>C (p.Ile14678Thr)
c.25118T>C (p.Ile8373Thr)
c.24917T>C (p.Ile8306Thr)
c.24542T>C (p.Ile8181Thr)
c.51737T>C (p.Ile17246Thr)
c.46814T>C (p.Ile15605Thr)
n.782+1420A>G
c.50834T>C (p.Ile16945Thr)
c.24728T>C (p.Ile8243Thr)
c.24587T>C (p.Ile8196Thr)
c.50630T>C (p.Ile16877Thr)
c.46028T>C (p.Ile15343Thr)
c.46025T>C (p.Ile15342Thr)
c.43067T>C (p.Ile14356Thr)
c.24683T>C (p.Ile8228Thr)
c.46178T>C (p.Ile15393Thr)
c.46175T>C (p.Ile15392Thr)
c.45608T>C (p.Ile15203Thr)
c.42950T>C (p.Ile14317Thr)
c.42869T>C (p.Ile14290Thr)
c.24632T>C (p.Ile8211Thr)
c.14486T>C (p.Ile4829Thr)
2g.178609686A>TCA349582539TTN,TTN-AS1c.44033T>A (p.Ile14678Asn)
c.25118T>A (p.Ile8373Asn)
c.24917T>A (p.Ile8306Asn)
c.24542T>A (p.Ile8181Asn)
c.51737T>A (p.Ile17246Asn)
c.46814T>A (p.Ile15605Asn)
n.782+1420A>T
c.50834T>A (p.Ile16945Asn)
c.24728T>A (p.Ile8243Asn)
c.24587T>A (p.Ile8196Asn)
c.50630T>A (p.Ile16877Asn)
c.46028T>A (p.Ile15343Asn)
c.46025T>A (p.Ile15342Asn)
c.43067T>A (p.Ile14356Asn)
c.24683T>A (p.Ile8228Asn)
c.46178T>A (p.Ile15393Asn)
c.46175T>A (p.Ile15392Asn)
c.45608T>A (p.Ile15203Asn)
c.42950T>A (p.Ile14317Asn)
c.42869T>A (p.Ile14290Asn)
c.24632T>A (p.Ile8211Asn)
c.14486T>A (p.Ile4829Asn)
2g.178609687T>ACA349582540TTN,TTN-AS1c.44032A>T (p.Ile14678Phe)
c.25117A>T (p.Ile8373Phe)
c.24916A>T (p.Ile8306Phe)
c.24541A>T (p.Ile8181Phe)
c.51736A>T (p.Ile17246Phe)
c.46813A>T (p.Ile15605Phe)
n.782+1421T>A
c.50833A>T (p.Ile16945Phe)
c.24727A>T (p.Ile8243Phe)
c.24586A>T (p.Ile8196Phe)
c.50629A>T (p.Ile16877Phe)
c.46027A>T (p.Ile15343Phe)
c.46024A>T (p.Ile15342Phe)
c.43066A>T (p.Ile14356Phe)
c.24682A>T (p.Ile8228Phe)
c.46177A>T (p.Ile15393Phe)
c.46174A>T (p.Ile15392Phe)
c.45607A>T (p.Ile15203Phe)
c.42949A>T (p.Ile14317Phe)
c.42868A>T (p.Ile14290Phe)
c.24631A>T (p.Ile8211Phe)
c.14485A>T (p.Ile4829Phe)
2g.178609687T>CCA349582542TTN,TTN-AS1c.44032A>G (p.Ile14678Val)
c.25117A>G (p.Ile8373Val)
c.24916A>G (p.Ile8306Val)
c.24541A>G (p.Ile8181Val)
c.51736A>G (p.Ile17246Val)
c.46813A>G (p.Ile15605Val)
n.782+1421T>C
c.50833A>G (p.Ile16945Val)
c.24727A>G (p.Ile8243Val)
c.24586A>G (p.Ile8196Val)
c.50629A>G (p.Ile16877Val)
c.46027A>G (p.Ile15343Val)
c.46024A>G (p.Ile15342Val)
c.43066A>G (p.Ile14356Val)
c.24682A>G (p.Ile8228Val)
c.46177A>G (p.Ile15393Val)
c.46174A>G (p.Ile15392Val)
c.45607A>G (p.Ile15203Val)
c.42949A>G (p.Ile14317Val)
c.42868A>G (p.Ile14290Val)
c.24631A>G (p.Ile8211Val)
c.14485A>G (p.Ile4829Val)
2g.178609687T>GCA349582545TTN,TTN-AS1c.44032A>C (p.Ile14678Leu)
c.25117A>C (p.Ile8373Leu)
c.24916A>C (p.Ile8306Leu)
c.24541A>C (p.Ile8181Leu)
c.51736A>C (p.Ile17246Leu)
c.46813A>C (p.Ile15605Leu)
n.782+1421T>G
c.50833A>C (p.Ile16945Leu)
c.24727A>C (p.Ile8243Leu)
c.24586A>C (p.Ile8196Leu)
c.50629A>C (p.Ile16877Leu)
c.46027A>C (p.Ile15343Leu)
c.46024A>C (p.Ile15342Leu)
c.43066A>C (p.Ile14356Leu)
c.24682A>C (p.Ile8228Leu)
c.46177A>C (p.Ile15393Leu)
c.46174A>C (p.Ile15392Leu)
c.45607A>C (p.Ile15203Leu)
c.42949A>C (p.Ile14317Leu)
c.42868A>C (p.Ile14290Leu)
c.24631A>C (p.Ile8211Leu)
c.14485A>C (p.Ile4829Leu)
2g.178609688G>ACA1994131TTN,TTN-AS1c.44031C>T (p.Pro14677=)
c.25116C>T (p.Pro8372=)
c.24915C>T (p.Pro8305=)
c.24540C>T (p.Pro8180=)
c.51735C>T (p.Pro17245=)
c.46812C>T (p.Pro15604=)
n.782+1422G>A
c.50832C>T (p.Pro16944=)
c.24726C>T (p.Pro8242=)
c.24585C>T (p.Pro8195=)
c.50628C>T (p.Pro16876=)
c.46026C>T (p.Pro15342=)
c.46023C>T (p.Pro15341=)
c.43065C>T (p.Pro14355=)
c.24681C>T (p.Pro8227=)
c.46176C>T (p.Pro15392=)
c.46173C>T (p.Pro15391=)
c.45606C>T (p.Pro15202=)
c.42948C>T (p.Pro14316=)
c.42867C>T (p.Pro14289=)
c.24630C>T (p.Pro8210=)
c.14484C>T (p.Pro4828=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178609688G>CCA430271547TTN,TTN-AS1c.44031C>G (p.Pro14677=)
c.25116C>G (p.Pro8372=)
c.24915C>G (p.Pro8305=)
c.24540C>G (p.Pro8180=)
c.51735C>G (p.Pro17245=)
c.46812C>G (p.Pro15604=)
n.782+1422G>C
c.50832C>G (p.Pro16944=)
c.24726C>G (p.Pro8242=)
c.24585C>G (p.Pro8195=)
c.50628C>G (p.Pro16876=)
c.46026C>G (p.Pro15342=)
c.46023C>G (p.Pro15341=)
c.43065C>G (p.Pro14355=)
c.24681C>G (p.Pro8227=)
c.46176C>G (p.Pro15392=)
c.46173C>G (p.Pro15391=)
c.45606C>G (p.Pro15202=)
c.42948C>G (p.Pro14316=)
c.42867C>G (p.Pro14289=)
c.24630C>G (p.Pro8210=)
c.14484C>G (p.Pro4828=)
2g.178609688G=CA1310546520TTN,TTN-AS1c.44031C= (p.Pro14677=)
c.25116C= (p.Pro8372=)
c.24915C= (p.Pro8305=)
c.24540C= (p.Pro8180=)
c.51735C= (p.Pro17245=)
c.46812C= (p.Pro15604=)
n.782+1422G=
c.50832C= (p.Pro16944=)
c.24726C= (p.Pro8242=)
c.24585C= (p.Pro8195=)
c.50628C= (p.Pro16876=)
c.46026C= (p.Pro15342=)
c.46023C= (p.Pro15341=)
c.43065C= (p.Pro14355=)
c.24681C= (p.Pro8227=)
c.46176C= (p.Pro15392=)
c.46173C= (p.Pro15391=)
c.45606C= (p.Pro15202=)
c.42948C= (p.Pro14316=)
c.42867C= (p.Pro14289=)
c.24630C= (p.Pro8210=)
c.14484C= (p.Pro4828=)
2g.178609688G>TCA430271548TTN,TTN-AS1c.44031C>A (p.Pro14677=)
c.25116C>A (p.Pro8372=)
c.24915C>A (p.Pro8305=)
c.24540C>A (p.Pro8180=)
c.51735C>A (p.Pro17245=)
c.46812C>A (p.Pro15604=)
n.782+1422G>T
c.50832C>A (p.Pro16944=)
c.24726C>A (p.Pro8242=)
c.24585C>A (p.Pro8195=)
c.50628C>A (p.Pro16876=)
c.46026C>A (p.Pro15342=)
c.46023C>A (p.Pro15341=)
c.43065C>A (p.Pro14355=)
c.24681C>A (p.Pro8227=)
c.46176C>A (p.Pro15392=)
c.46173C>A (p.Pro15391=)
c.45606C>A (p.Pro15202=)
c.42948C>A (p.Pro14316=)
c.42867C>A (p.Pro14289=)
c.24630C>A (p.Pro8210=)
c.14484C>A (p.Pro4828=)
 gnomAD v4
2g.178609689G>ACA349582546TTN,TTN-AS1c.44030C>T (p.Pro14677Leu)
c.25115C>T (p.Pro8372Leu)
c.24914C>T (p.Pro8305Leu)
c.24539C>T (p.Pro8180Leu)
c.51734C>T (p.Pro17245Leu)
c.46811C>T (p.Pro15604Leu)
n.782+1423G>A
c.50831C>T (p.Pro16944Leu)
c.24725C>T (p.Pro8242Leu)
c.24584C>T (p.Pro8195Leu)
c.50627C>T (p.Pro16876Leu)
c.46025C>T (p.Pro15342Leu)
c.46022C>T (p.Pro15341Leu)
c.43064C>T (p.Pro14355Leu)
c.24680C>T (p.Pro8227Leu)
c.46175C>T (p.Pro15392Leu)
c.46172C>T (p.Pro15391Leu)
c.45605C>T (p.Pro15202Leu)
c.42947C>T (p.Pro14316Leu)
c.42866C>T (p.Pro14289Leu)
c.24629C>T (p.Pro8210Leu)
c.14483C>T (p.Pro4828Leu)
2g.178609689G>CCA349582548TTN,TTN-AS1c.44030C>G (p.Pro14677Arg)
c.25115C>G (p.Pro8372Arg)
c.24914C>G (p.Pro8305Arg)
c.24539C>G (p.Pro8180Arg)
c.51734C>G (p.Pro17245Arg)
c.46811C>G (p.Pro15604Arg)
n.782+1423G>C
c.50831C>G (p.Pro16944Arg)
c.24725C>G (p.Pro8242Arg)
c.24584C>G (p.Pro8195Arg)
c.50627C>G (p.Pro16876Arg)
c.46025C>G (p.Pro15342Arg)
c.46022C>G (p.Pro15341Arg)
c.43064C>G (p.Pro14355Arg)
c.24680C>G (p.Pro8227Arg)
c.46175C>G (p.Pro15392Arg)
c.46172C>G (p.Pro15391Arg)
c.45605C>G (p.Pro15202Arg)
c.42947C>G (p.Pro14316Arg)
c.42866C>G (p.Pro14289Arg)
c.24629C>G (p.Pro8210Arg)
c.14483C>G (p.Pro4828Arg)
2g.178609689G>TCA349582553TTN,TTN-AS1c.44030C>A (p.Pro14677His)
c.25115C>A (p.Pro8372His)
c.24914C>A (p.Pro8305His)
c.24539C>A (p.Pro8180His)
c.51734C>A (p.Pro17245His)
c.46811C>A (p.Pro15604His)
n.782+1423G>T
c.50831C>A (p.Pro16944His)
c.24725C>A (p.Pro8242His)
c.24584C>A (p.Pro8195His)
c.50627C>A (p.Pro16876His)
c.46025C>A (p.Pro15342His)
c.46022C>A (p.Pro15341His)
c.43064C>A (p.Pro14355His)
c.24680C>A (p.Pro8227His)
c.46175C>A (p.Pro15392His)
c.46172C>A (p.Pro15391His)
c.45605C>A (p.Pro15202His)
c.42947C>A (p.Pro14316His)
c.42866C>A (p.Pro14289His)
c.24629C>A (p.Pro8210His)
c.14483C>A (p.Pro4828His)
 gnomAD v4
2g.178609690G>ACA349582558TTN,TTN-AS1c.44029C>T (p.Pro14677Ser)
c.25114C>T (p.Pro8372Ser)
c.24913C>T (p.Pro8305Ser)
c.24538C>T (p.Pro8180Ser)
c.51733C>T (p.Pro17245Ser)
c.46810C>T (p.Pro15604Ser)
n.782+1424G>A
c.50830C>T (p.Pro16944Ser)
c.24724C>T (p.Pro8242Ser)
c.24583C>T (p.Pro8195Ser)
c.50626C>T (p.Pro16876Ser)
c.46024C>T (p.Pro15342Ser)
c.46021C>T (p.Pro15341Ser)
c.43063C>T (p.Pro14355Ser)
c.24679C>T (p.Pro8227Ser)
c.46174C>T (p.Pro15392Ser)
c.46171C>T (p.Pro15391Ser)
c.45604C>T (p.Pro15202Ser)
c.42946C>T (p.Pro14316Ser)
c.42865C>T (p.Pro14289Ser)
c.24628C>T (p.Pro8210Ser)
c.14482C>T (p.Pro4828Ser)
 COSMIC COSMIC COSMIC COSMIC
2g.178609690G>CCA349582556TTN,TTN-AS1c.44029C>G (p.Pro14677Ala)
c.25114C>G (p.Pro8372Ala)
c.24913C>G (p.Pro8305Ala)
c.24538C>G (p.Pro8180Ala)
c.51733C>G (p.Pro17245Ala)
c.46810C>G (p.Pro15604Ala)
n.782+1424G>C
c.50830C>G (p.Pro16944Ala)
c.24724C>G (p.Pro8242Ala)
c.24583C>G (p.Pro8195Ala)
c.50626C>G (p.Pro16876Ala)
c.46024C>G (p.Pro15342Ala)
c.46021C>G (p.Pro15341Ala)
c.43063C>G (p.Pro14355Ala)
c.24679C>G (p.Pro8227Ala)
c.46174C>G (p.Pro15392Ala)
c.46171C>G (p.Pro15391Ala)
c.45604C>G (p.Pro15202Ala)
c.42946C>G (p.Pro14316Ala)
c.42865C>G (p.Pro14289Ala)
c.24628C>G (p.Pro8210Ala)
c.14482C>G (p.Pro4828Ala)
2g.178609690G>TCA349582555TTN,TTN-AS1c.44029C>A (p.Pro14677Thr)
c.25114C>A (p.Pro8372Thr)
c.24913C>A (p.Pro8305Thr)
c.24538C>A (p.Pro8180Thr)
c.51733C>A (p.Pro17245Thr)
c.46810C>A (p.Pro15604Thr)
n.782+1424G>T
c.50830C>A (p.Pro16944Thr)
c.24724C>A (p.Pro8242Thr)
c.24583C>A (p.Pro8195Thr)
c.50626C>A (p.Pro16876Thr)
c.46024C>A (p.Pro15342Thr)
c.46021C>A (p.Pro15341Thr)
c.43063C>A (p.Pro14355Thr)
c.24679C>A (p.Pro8227Thr)
c.46174C>A (p.Pro15392Thr)
c.46171C>A (p.Pro15391Thr)
c.45604C>A (p.Pro15202Thr)
c.42946C>A (p.Pro14316Thr)
c.42865C>A (p.Pro14289Thr)
c.24628C>A (p.Pro8210Thr)
c.14482C>A (p.Pro4828Thr)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178609691A>CCA349582561TTN,TTN-AS1c.44028T>G (p.Asp14676Glu)
c.25113T>G (p.Asp8371Glu)
c.24912T>G (p.Asp8304Glu)
c.24537T>G (p.Asp8179Glu)
c.51732T>G (p.Asp17244Glu)
c.46809T>G (p.Asp15603Glu)
n.782+1425A>C
c.50829T>G (p.Asp16943Glu)
c.24723T>G (p.Asp8241Glu)
c.24582T>G (p.Asp8194Glu)
c.50625T>G (p.Asp16875Glu)
c.46023T>G (p.Asp15341Glu)
c.46020T>G (p.Asp15340Glu)
c.43062T>G (p.Asp14354Glu)
c.24678T>G (p.Asp8226Glu)
c.46173T>G (p.Asp15391Glu)
c.46170T>G (p.Asp15390Glu)
c.45603T>G (p.Asp15201Glu)
c.42945T>G (p.Asp14315Glu)
c.42864T>G (p.Asp14288Glu)
c.24627T>G (p.Asp8209Glu)
c.14481T>G (p.Asp4827Glu)
2g.178609691A>GCA430271549TTN,TTN-AS1c.44028T>C (p.Asp14676=)
c.25113T>C (p.Asp8371=)
c.24912T>C (p.Asp8304=)
c.24537T>C (p.Asp8179=)
c.51732T>C (p.Asp17244=)
c.46809T>C (p.Asp15603=)
n.782+1425A>G
c.50829T>C (p.Asp16943=)
c.24723T>C (p.Asp8241=)
c.24582T>C (p.Asp8194=)
c.50625T>C (p.Asp16875=)
c.46023T>C (p.Asp15341=)
c.46020T>C (p.Asp15340=)
c.43062T>C (p.Asp14354=)
c.24678T>C (p.Asp8226=)
c.46173T>C (p.Asp15391=)
c.46170T>C (p.Asp15390=)
c.45603T>C (p.Asp15201=)
c.42945T>C (p.Asp14315=)
c.42864T>C (p.Asp14288=)
c.24627T>C (p.Asp8209=)
c.14481T>C (p.Asp4827=)
2g.178609691A>TCA349582563TTN,TTN-AS1c.44028T>A (p.Asp14676Glu)
c.25113T>A (p.Asp8371Glu)
c.24912T>A (p.Asp8304Glu)
c.24537T>A (p.Asp8179Glu)
c.51732T>A (p.Asp17244Glu)
c.46809T>A (p.Asp15603Glu)
n.782+1425A>T
c.50829T>A (p.Asp16943Glu)
c.24723T>A (p.Asp8241Glu)
c.24582T>A (p.Asp8194Glu)
c.50625T>A (p.Asp16875Glu)
c.46023T>A (p.Asp15341Glu)
c.46020T>A (p.Asp15340Glu)
c.43062T>A (p.Asp14354Glu)
c.24678T>A (p.Asp8226Glu)
c.46173T>A (p.Asp15391Glu)
c.46170T>A (p.Asp15390Glu)
c.45603T>A (p.Asp15201Glu)
c.42945T>A (p.Asp14315Glu)
c.42864T>A (p.Asp14288Glu)
c.24627T>A (p.Asp8209Glu)
c.14481T>A (p.Asp4827Glu)
 gnomAD v4
2g.178609692delCA2662135000TTN,TTN-AS1c.44027del (p.Asp14676ValfsTer10)
c.25112del (p.Asp8371ValfsTer10)
c.24911del (p.Asp8304ValfsTer10)
c.24536del (p.Asp8179ValfsTer10)
c.51731del (p.Asp17244ValfsTer10)
c.46808del (p.Asp15603ValfsTer10)
n.782+1426del
c.50828del (p.Asp16943ValfsTer10)
c.24722del (p.Asp8241ValfsTer10)
c.24581del (p.Asp8194ValfsTer10)
c.50624del (p.Asp16875ValfsTer10)
c.46022del (p.Asp15341ValfsTer10)
c.46019del (p.Asp15340ValfsTer10)
c.43061del (p.Asp14354ValfsTer10)
c.24677del (p.Asp8226ValfsTer10)
c.46172del (p.Asp15391ValfsTer10)
c.46169del (p.Asp15390ValfsTer10)
c.45602del (p.Asp15201ValfsTer10)
c.42944del (p.Asp14315ValfsTer10)
c.42863del (p.Asp14288ValfsTer10)
c.24626del (p.Asp8209ValfsTer10)
c.14480del (p.Asp4827ValfsTer10)
 gnomAD v4
2g.178609692T>ACA349582589TTN,TTN-AS1c.44027A>T (p.Asp14676Val)
c.25112A>T (p.Asp8371Val)
c.24911A>T (p.Asp8304Val)
c.24536A>T (p.Asp8179Val)
c.51731A>T (p.Asp17244Val)
c.46808A>T (p.Asp15603Val)
n.782+1426T>A
c.50828A>T (p.Asp16943Val)
c.24722A>T (p.Asp8241Val)
c.24581A>T (p.Asp8194Val)
c.50624A>T (p.Asp16875Val)
c.46022A>T (p.Asp15341Val)
c.46019A>T (p.Asp15340Val)
c.43061A>T (p.Asp14354Val)
c.24677A>T (p.Asp8226Val)
c.46172A>T (p.Asp15391Val)
c.46169A>T (p.Asp15390Val)
c.45602A>T (p.Asp15201Val)
c.42944A>T (p.Asp14315Val)
c.42863A>T (p.Asp14288Val)
c.24626A>T (p.Asp8209Val)
c.14480A>T (p.Asp4827Val)
2g.178609692T>CCA349582596TTN,TTN-AS1c.44027A>G (p.Asp14676Gly)
c.25112A>G (p.Asp8371Gly)
c.24911A>G (p.Asp8304Gly)
c.24536A>G (p.Asp8179Gly)
c.51731A>G (p.Asp17244Gly)
c.46808A>G (p.Asp15603Gly)
n.782+1426T>C
c.50828A>G (p.Asp16943Gly)
c.24722A>G (p.Asp8241Gly)
c.24581A>G (p.Asp8194Gly)
c.50624A>G (p.Asp16875Gly)
c.46022A>G (p.Asp15341Gly)
c.46019A>G (p.Asp15340Gly)
c.43061A>G (p.Asp14354Gly)
c.24677A>G (p.Asp8226Gly)
c.46172A>G (p.Asp15391Gly)
c.46169A>G (p.Asp15390Gly)
c.45602A>G (p.Asp15201Gly)
c.42944A>G (p.Asp14315Gly)
c.42863A>G (p.Asp14288Gly)
c.24626A>G (p.Asp8209Gly)
c.14480A>G (p.Asp4827Gly)
2g.178609692T>GCA349582605TTN,TTN-AS1c.44027A>C (p.Asp14676Ala)
c.25112A>C (p.Asp8371Ala)
c.24911A>C (p.Asp8304Ala)
c.24536A>C (p.Asp8179Ala)
c.51731A>C (p.Asp17244Ala)
c.46808A>C (p.Asp15603Ala)
n.782+1426T>G
c.50828A>C (p.Asp16943Ala)
c.24722A>C (p.Asp8241Ala)
c.24581A>C (p.Asp8194Ala)
c.50624A>C (p.Asp16875Ala)
c.46022A>C (p.Asp15341Ala)
c.46019A>C (p.Asp15340Ala)
c.43061A>C (p.Asp14354Ala)
c.24677A>C (p.Asp8226Ala)
c.46172A>C (p.Asp15391Ala)
c.46169A>C (p.Asp15390Ala)
c.45602A>C (p.Asp15201Ala)
c.42944A>C (p.Asp14315Ala)
c.42863A>C (p.Asp14288Ala)
c.24626A>C (p.Asp8209Ala)
c.14480A>C (p.Asp4827Ala)
2g.178609693C>ACA349582621TTN,TTN-AS1c.44026G>T (p.Asp14676Tyr)
c.25111G>T (p.Asp8371Tyr)
c.24910G>T (p.Asp8304Tyr)
c.24535G>T (p.Asp8179Tyr)
c.51730G>T (p.Asp17244Tyr)
c.46807G>T (p.Asp15603Tyr)
n.782+1427C>A
c.50827G>T (p.Asp16943Tyr)
c.24721G>T (p.Asp8241Tyr)
c.24580G>T (p.Asp8194Tyr)
c.50623G>T (p.Asp16875Tyr)
c.46021G>T (p.Asp15341Tyr)
c.46018G>T (p.Asp15340Tyr)
c.43060G>T (p.Asp14354Tyr)
c.24676G>T (p.Asp8226Tyr)
c.46171G>T (p.Asp15391Tyr)
c.46168G>T (p.Asp15390Tyr)
c.45601G>T (p.Asp15201Tyr)
c.42943G>T (p.Asp14315Tyr)
c.42862G>T (p.Asp14288Tyr)
c.24625G>T (p.Asp8209Tyr)
c.14479G>T (p.Asp4827Tyr)
2g.178609693C>GCA349582615TTN,TTN-AS1c.44026G>C (p.Asp14676His)
c.25111G>C (p.Asp8371His)
c.24910G>C (p.Asp8304His)
c.24535G>C (p.Asp8179His)
c.51730G>C (p.Asp17244His)
c.46807G>C (p.Asp15603His)
n.782+1427C>G
c.50827G>C (p.Asp16943His)
c.24721G>C (p.Asp8241His)
c.24580G>C (p.Asp8194His)
c.50623G>C (p.Asp16875His)
c.46021G>C (p.Asp15341His)
c.46018G>C (p.Asp15340His)
c.43060G>C (p.Asp14354His)
c.24676G>C (p.Asp8226His)
c.46171G>C (p.Asp15391His)
c.46168G>C (p.Asp15390His)
c.45601G>C (p.Asp15201His)
c.42943G>C (p.Asp14315His)
c.42862G>C (p.Asp14288His)
c.24625G>C (p.Asp8209His)
c.14479G>C (p.Asp4827His)
2g.178609693C>TCA349582613TTN,TTN-AS1c.44026G>A (p.Asp14676Asn)
c.25111G>A (p.Asp8371Asn)
c.24910G>A (p.Asp8304Asn)
c.24535G>A (p.Asp8179Asn)
c.51730G>A (p.Asp17244Asn)
c.46807G>A (p.Asp15603Asn)
n.782+1427C>T
c.50827G>A (p.Asp16943Asn)
c.24721G>A (p.Asp8241Asn)
c.24580G>A (p.Asp8194Asn)
c.50623G>A (p.Asp16875Asn)
c.46021G>A (p.Asp15341Asn)
c.46018G>A (p.Asp15340Asn)
c.43060G>A (p.Asp14354Asn)
c.24676G>A (p.Asp8226Asn)
c.46171G>A (p.Asp15391Asn)
c.46168G>A (p.Asp15390Asn)
c.45601G>A (p.Asp15201Asn)
c.42943G>A (p.Asp14315Asn)
c.42862G>A (p.Asp14288Asn)
c.24625G>A (p.Asp8209Asn)
c.14479G>A (p.Asp4827Asn)
2g.178609694T>ACA430271550TTN,TTN-AS1c.44025A>T (p.Val14675=)
c.25110A>T (p.Val8370=)
c.24909A>T (p.Val8303=)
c.24534A>T (p.Val8178=)
c.51729A>T (p.Val17243=)
c.46806A>T (p.Val15602=)
n.782+1428T>A
c.50826A>T (p.Val16942=)
c.24720A>T (p.Val8240=)
c.24579A>T (p.Val8193=)
c.50622A>T (p.Val16874=)
c.46020A>T (p.Val15340=)
c.46017A>T (p.Val15339=)
c.43059A>T (p.Val14353=)
c.24675A>T (p.Val8225=)
c.46170A>T (p.Val15390=)
c.46167A>T (p.Val15389=)
c.45600A>T (p.Val15200=)
c.42942A>T (p.Val14314=)
c.42861A>T (p.Val14287=)
c.24624A>T (p.Val8208=)
c.14478A>T (p.Val4826=)
2g.178609694T>CCA430271551TTN,TTN-AS1c.44025A>G (p.Val14675=)
c.25110A>G (p.Val8370=)
c.24909A>G (p.Val8303=)
c.24534A>G (p.Val8178=)
c.51729A>G (p.Val17243=)
c.46806A>G (p.Val15602=)
n.782+1428T>C
c.50826A>G (p.Val16942=)
c.24720A>G (p.Val8240=)
c.24579A>G (p.Val8193=)
c.50622A>G (p.Val16874=)
c.46020A>G (p.Val15340=)
c.46017A>G (p.Val15339=)
c.43059A>G (p.Val14353=)
c.24675A>G (p.Val8225=)
c.46170A>G (p.Val15390=)
c.46167A>G (p.Val15389=)
c.45600A>G (p.Val15200=)
c.42942A>G (p.Val14314=)
c.42861A>G (p.Val14287=)
c.24624A>G (p.Val8208=)
c.14478A>G (p.Val4826=)
 dbSNP
2g.178609694T>GCA430271552TTN,TTN-AS1c.44025A>C (p.Val14675=)
c.25110A>C (p.Val8370=)
c.24909A>C (p.Val8303=)
c.24534A>C (p.Val8178=)
c.51729A>C (p.Val17243=)
c.46806A>C (p.Val15602=)
n.782+1428T>G
c.50826A>C (p.Val16942=)
c.24720A>C (p.Val8240=)
c.24579A>C (p.Val8193=)
c.50622A>C (p.Val16874=)
c.46020A>C (p.Val15340=)
c.46017A>C (p.Val15339=)
c.43059A>C (p.Val14353=)
c.24675A>C (p.Val8225=)
c.46170A>C (p.Val15390=)
c.46167A>C (p.Val15389=)
c.45600A>C (p.Val15200=)
c.42942A>C (p.Val14314=)
c.42861A>C (p.Val14287=)
c.24624A>C (p.Val8208=)
c.14478A>C (p.Val4826=)

Number of alleles fetched