Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178595671C>ACA349515523TTN,TTN-AS1c.49979G>T (p.Arg16660Leu)
c.31064G>T (p.Arg10355Leu)
c.30863G>T (p.Arg10288Leu)
c.30488G>T (p.Arg10163Leu)
c.57683G>T (p.Arg19228Leu)
c.52760G>T (p.Arg17587Leu)
n.597-1925C>A
n.3365-1925C>A
c.56780G>T (p.Arg18927Leu)
c.30674G>T (p.Arg10225Leu)
c.30533G>T (p.Arg10178Leu)
c.56576G>T (p.Arg18859Leu)
c.51974G>T (p.Arg17325Leu)
c.51971G>T (p.Arg17324Leu)
c.49013G>T (p.Arg16338Leu)
c.30629G>T (p.Arg10210Leu)
c.52124G>T (p.Arg17375Leu)
c.52121G>T (p.Arg17374Leu)
c.51554G>T (p.Arg17185Leu)
c.48896G>T (p.Arg16299Leu)
c.48815G>T (p.Arg16272Leu)
c.30578G>T (p.Arg10193Leu)
c.20432G>T (p.Arg6811Leu)
2g.178595671C=CA1310541643TTN,TTN-AS1c.49979G= (p.Arg16660=)
c.31064G= (p.Arg10355=)
c.30863G= (p.Arg10288=)
c.30488G= (p.Arg10163=)
c.57683G= (p.Arg19228=)
c.52760G= (p.Arg17587=)
n.597-1925C=
n.3365-1925C=
c.56780G= (p.Arg18927=)
c.30674G= (p.Arg10225=)
c.30533G= (p.Arg10178=)
c.56576G= (p.Arg18859=)
c.51974G= (p.Arg17325=)
c.51971G= (p.Arg17324=)
c.49013G= (p.Arg16338=)
c.30629G= (p.Arg10210=)
c.52124G= (p.Arg17375=)
c.52121G= (p.Arg17374=)
c.51554G= (p.Arg17185=)
c.48896G= (p.Arg16299=)
c.48815G= (p.Arg16272=)
c.30578G= (p.Arg10193=)
c.20432G= (p.Arg6811=)
2g.178595671C>GCA349515541TTN,TTN-AS1c.49979G>C (p.Arg16660Pro)
c.31064G>C (p.Arg10355Pro)
c.30863G>C (p.Arg10288Pro)
c.30488G>C (p.Arg10163Pro)
c.57683G>C (p.Arg19228Pro)
c.52760G>C (p.Arg17587Pro)
n.597-1925C>G
n.3365-1925C>G
c.56780G>C (p.Arg18927Pro)
c.30674G>C (p.Arg10225Pro)
c.30533G>C (p.Arg10178Pro)
c.56576G>C (p.Arg18859Pro)
c.51974G>C (p.Arg17325Pro)
c.51971G>C (p.Arg17324Pro)
c.49013G>C (p.Arg16338Pro)
c.30629G>C (p.Arg10210Pro)
c.52124G>C (p.Arg17375Pro)
c.52121G>C (p.Arg17374Pro)
c.51554G>C (p.Arg17185Pro)
c.48896G>C (p.Arg16299Pro)
c.48815G>C (p.Arg16272Pro)
c.30578G>C (p.Arg10193Pro)
c.20432G>C (p.Arg6811Pro)
2g.178595671C>TCA140076TTN,TTN-AS1c.49979G>A (p.Arg16660His)
c.31064G>A (p.Arg10355His)
c.30863G>A (p.Arg10288His)
c.30488G>A (p.Arg10163His)
c.57683G>A (p.Arg19228His)
c.52760G>A (p.Arg17587His)
n.597-1925C>T
n.3365-1925C>T
c.56780G>A (p.Arg18927His)
c.30674G>A (p.Arg10225His)
c.30533G>A (p.Arg10178His)
c.56576G>A (p.Arg18859His)
c.51974G>A (p.Arg17325His)
c.51971G>A (p.Arg17324His)
c.49013G>A (p.Arg16338His)
c.30629G>A (p.Arg10210His)
c.52124G>A (p.Arg17375His)
c.52121G>A (p.Arg17374His)
c.51554G>A (p.Arg17185His)
c.48896G>A (p.Arg16299His)
c.48815G>A (p.Arg16272His)
c.30578G>A (p.Arg10193His)
c.20432G>A (p.Arg6811His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178595672G>ACA1993008TTN,TTN-AS1c.49978C>T (p.Arg16660Cys)
c.31063C>T (p.Arg10355Cys)
c.30862C>T (p.Arg10288Cys)
c.30487C>T (p.Arg10163Cys)
c.57682C>T (p.Arg19228Cys)
c.52759C>T (p.Arg17587Cys)
n.597-1924G>A
n.3365-1924G>A
c.56779C>T (p.Arg18927Cys)
c.30673C>T (p.Arg10225Cys)
c.30532C>T (p.Arg10178Cys)
c.56575C>T (p.Arg18859Cys)
c.51973C>T (p.Arg17325Cys)
c.51970C>T (p.Arg17324Cys)
c.49012C>T (p.Arg16338Cys)
c.30628C>T (p.Arg10210Cys)
c.52123C>T (p.Arg17375Cys)
c.52120C>T (p.Arg17374Cys)
c.51553C>T (p.Arg17185Cys)
c.48895C>T (p.Arg16299Cys)
c.48814C>T (p.Arg16272Cys)
c.30577C>T (p.Arg10193Cys)
c.20431C>T (p.Arg6811Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178595672G>CCA349515571TTN,TTN-AS1c.49978C>G (p.Arg16660Gly)
c.31063C>G (p.Arg10355Gly)
c.30862C>G (p.Arg10288Gly)
c.30487C>G (p.Arg10163Gly)
c.57682C>G (p.Arg19228Gly)
c.52759C>G (p.Arg17587Gly)
n.597-1924G>C
n.3365-1924G>C
c.56779C>G (p.Arg18927Gly)
c.30673C>G (p.Arg10225Gly)
c.30532C>G (p.Arg10178Gly)
c.56575C>G (p.Arg18859Gly)
c.51973C>G (p.Arg17325Gly)
c.51970C>G (p.Arg17324Gly)
c.49012C>G (p.Arg16338Gly)
c.30628C>G (p.Arg10210Gly)
c.52123C>G (p.Arg17375Gly)
c.52120C>G (p.Arg17374Gly)
c.51553C>G (p.Arg17185Gly)
c.48895C>G (p.Arg16299Gly)
c.48814C>G (p.Arg16272Gly)
c.30577C>G (p.Arg10193Gly)
c.20431C>G (p.Arg6811Gly)
2g.178595672G=CA1310541644TTN,TTN-AS1c.49978C= (p.Arg16660=)
c.31063C= (p.Arg10355=)
c.30862C= (p.Arg10288=)
c.30487C= (p.Arg10163=)
c.57682C= (p.Arg19228=)
c.52759C= (p.Arg17587=)
n.597-1924G=
n.3365-1924G=
c.56779C= (p.Arg18927=)
c.30673C= (p.Arg10225=)
c.30532C= (p.Arg10178=)
c.56575C= (p.Arg18859=)
c.51973C= (p.Arg17325=)
c.51970C= (p.Arg17324=)
c.49012C= (p.Arg16338=)
c.30628C= (p.Arg10210=)
c.52123C= (p.Arg17375=)
c.52120C= (p.Arg17374=)
c.51553C= (p.Arg17185=)
c.48895C= (p.Arg16299=)
c.48814C= (p.Arg16272=)
c.30577C= (p.Arg10193=)
c.20431C= (p.Arg6811=)
2g.178595672G>TCA349515563TTN,TTN-AS1c.49978C>A (p.Arg16660Ser)
c.31063C>A (p.Arg10355Ser)
c.30862C>A (p.Arg10288Ser)
c.30487C>A (p.Arg10163Ser)
c.57682C>A (p.Arg19228Ser)
c.52759C>A (p.Arg17587Ser)
n.597-1924G>T
n.3365-1924G>T
c.56779C>A (p.Arg18927Ser)
c.30673C>A (p.Arg10225Ser)
c.30532C>A (p.Arg10178Ser)
c.56575C>A (p.Arg18859Ser)
c.51973C>A (p.Arg17325Ser)
c.51970C>A (p.Arg17324Ser)
c.49012C>A (p.Arg16338Ser)
c.30628C>A (p.Arg10210Ser)
c.52123C>A (p.Arg17375Ser)
c.52120C>A (p.Arg17374Ser)
c.51553C>A (p.Arg17185Ser)
c.48895C>A (p.Arg16299Ser)
c.48814C>A (p.Arg16272Ser)
c.30577C>A (p.Arg10193Ser)
c.20431C>A (p.Arg6811Ser)
2g.178595673G>ACA430093545TTN,TTN-AS1c.49977C>T (p.Asp16659=)
c.31062C>T (p.Asp10354=)
c.30861C>T (p.Asp10287=)
c.30486C>T (p.Asp10162=)
c.57681C>T (p.Asp19227=)
c.52758C>T (p.Asp17586=)
n.597-1923G>A
n.3365-1923G>A
c.56778C>T (p.Asp18926=)
c.30672C>T (p.Asp10224=)
c.30531C>T (p.Asp10177=)
c.56574C>T (p.Asp18858=)
c.51972C>T (p.Asp17324=)
c.51969C>T (p.Asp17323=)
c.49011C>T (p.Asp16337=)
c.30627C>T (p.Asp10209=)
c.52122C>T (p.Asp17374=)
c.52119C>T (p.Asp17373=)
c.51552C>T (p.Asp17184=)
c.48894C>T (p.Asp16298=)
c.48813C>T (p.Asp16271=)
c.30576C>T (p.Asp10192=)
c.20430C>T (p.Asp6810=)
 gnomAD v4
2g.178595673G>CCA349515575TTN,TTN-AS1c.49977C>G (p.Asp16659Glu)
c.31062C>G (p.Asp10354Glu)
c.30861C>G (p.Asp10287Glu)
c.30486C>G (p.Asp10162Glu)
c.57681C>G (p.Asp19227Glu)
c.52758C>G (p.Asp17586Glu)
n.597-1923G>C
n.3365-1923G>C
c.56778C>G (p.Asp18926Glu)
c.30672C>G (p.Asp10224Glu)
c.30531C>G (p.Asp10177Glu)
c.56574C>G (p.Asp18858Glu)
c.51972C>G (p.Asp17324Glu)
c.51969C>G (p.Asp17323Glu)
c.49011C>G (p.Asp16337Glu)
c.30627C>G (p.Asp10209Glu)
c.52122C>G (p.Asp17374Glu)
c.52119C>G (p.Asp17373Glu)
c.51552C>G (p.Asp17184Glu)
c.48894C>G (p.Asp16298Glu)
c.48813C>G (p.Asp16271Glu)
c.30576C>G (p.Asp10192Glu)
c.20430C>G (p.Asp6810Glu)
2g.178595673G=CA1310541645TTN,TTN-AS1c.49977C= (p.Asp16659=)
c.31062C= (p.Asp10354=)
c.30861C= (p.Asp10287=)
c.30486C= (p.Asp10162=)
c.57681C= (p.Asp19227=)
c.52758C= (p.Asp17586=)
n.597-1923G=
n.3365-1923G=
c.56778C= (p.Asp18926=)
c.30672C= (p.Asp10224=)
c.30531C= (p.Asp10177=)
c.56574C= (p.Asp18858=)
c.51972C= (p.Asp17324=)
c.51969C= (p.Asp17323=)
c.49011C= (p.Asp16337=)
c.30627C= (p.Asp10209=)
c.52122C= (p.Asp17374=)
c.52119C= (p.Asp17373=)
c.51552C= (p.Asp17184=)
c.48894C= (p.Asp16298=)
c.48813C= (p.Asp16271=)
c.30576C= (p.Asp10192=)
c.20430C= (p.Asp6810=)
2g.178595673G>TCA349515579TTN,TTN-AS1c.49977C>A (p.Asp16659Glu)
c.31062C>A (p.Asp10354Glu)
c.30861C>A (p.Asp10287Glu)
c.30486C>A (p.Asp10162Glu)
c.57681C>A (p.Asp19227Glu)
c.52758C>A (p.Asp17586Glu)
n.597-1923G>T
n.3365-1923G>T
c.56778C>A (p.Asp18926Glu)
c.30672C>A (p.Asp10224Glu)
c.30531C>A (p.Asp10177Glu)
c.56574C>A (p.Asp18858Glu)
c.51972C>A (p.Asp17324Glu)
c.51969C>A (p.Asp17323Glu)
c.49011C>A (p.Asp16337Glu)
c.30627C>A (p.Asp10209Glu)
c.52122C>A (p.Asp17374Glu)
c.52119C>A (p.Asp17373Glu)
c.51552C>A (p.Asp17184Glu)
c.48894C>A (p.Asp16298Glu)
c.48813C>A (p.Asp16271Glu)
c.30576C>A (p.Asp10192Glu)
c.20430C>A (p.Asp6810Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.178595674T>ACA349515587TTN,TTN-AS1c.49976A>T (p.Asp16659Val)
c.31061A>T (p.Asp10354Val)
c.30860A>T (p.Asp10287Val)
c.30485A>T (p.Asp10162Val)
c.57680A>T (p.Asp19227Val)
c.52757A>T (p.Asp17586Val)
n.597-1922T>A
n.3365-1922T>A
c.56777A>T (p.Asp18926Val)
c.30671A>T (p.Asp10224Val)
c.30530A>T (p.Asp10177Val)
c.56573A>T (p.Asp18858Val)
c.51971A>T (p.Asp17324Val)
c.51968A>T (p.Asp17323Val)
c.49010A>T (p.Asp16337Val)
c.30626A>T (p.Asp10209Val)
c.52121A>T (p.Asp17374Val)
c.52118A>T (p.Asp17373Val)
c.51551A>T (p.Asp17184Val)
c.48893A>T (p.Asp16298Val)
c.48812A>T (p.Asp16271Val)
c.30575A>T (p.Asp10192Val)
c.20429A>T (p.Asp6810Val)
2g.178595674T>CCA349515598TTN,TTN-AS1c.49976A>G (p.Asp16659Gly)
c.31061A>G (p.Asp10354Gly)
c.30860A>G (p.Asp10287Gly)
c.30485A>G (p.Asp10162Gly)
c.57680A>G (p.Asp19227Gly)
c.52757A>G (p.Asp17586Gly)
n.597-1922T>C
n.3365-1922T>C
c.56777A>G (p.Asp18926Gly)
c.30671A>G (p.Asp10224Gly)
c.30530A>G (p.Asp10177Gly)
c.56573A>G (p.Asp18858Gly)
c.51971A>G (p.Asp17324Gly)
c.51968A>G (p.Asp17323Gly)
c.49010A>G (p.Asp16337Gly)
c.30626A>G (p.Asp10209Gly)
c.52121A>G (p.Asp17374Gly)
c.52118A>G (p.Asp17373Gly)
c.51551A>G (p.Asp17184Gly)
c.48893A>G (p.Asp16298Gly)
c.48812A>G (p.Asp16271Gly)
c.30575A>G (p.Asp10192Gly)
c.20429A>G (p.Asp6810Gly)
2g.178595674T>GCA349515595TTN,TTN-AS1c.49976A>C (p.Asp16659Ala)
c.31061A>C (p.Asp10354Ala)
c.30860A>C (p.Asp10287Ala)
c.30485A>C (p.Asp10162Ala)
c.57680A>C (p.Asp19227Ala)
c.52757A>C (p.Asp17586Ala)
n.597-1922T>G
n.3365-1922T>G
c.56777A>C (p.Asp18926Ala)
c.30671A>C (p.Asp10224Ala)
c.30530A>C (p.Asp10177Ala)
c.56573A>C (p.Asp18858Ala)
c.51971A>C (p.Asp17324Ala)
c.51968A>C (p.Asp17323Ala)
c.49010A>C (p.Asp16337Ala)
c.30626A>C (p.Asp10209Ala)
c.52121A>C (p.Asp17374Ala)
c.52118A>C (p.Asp17373Ala)
c.51551A>C (p.Asp17184Ala)
c.48893A>C (p.Asp16298Ala)
c.48812A>C (p.Asp16271Ala)
c.30575A>C (p.Asp10192Ala)
c.20429A>C (p.Asp6810Ala)
2g.178595675C>ACA349515604TTN,TTN-AS1c.49975G>T (p.Asp16659Tyr)
c.31060G>T (p.Asp10354Tyr)
c.30859G>T (p.Asp10287Tyr)
c.30484G>T (p.Asp10162Tyr)
c.57679G>T (p.Asp19227Tyr)
c.52756G>T (p.Asp17586Tyr)
n.597-1921C>A
n.3365-1921C>A
c.56776G>T (p.Asp18926Tyr)
c.30670G>T (p.Asp10224Tyr)
c.30529G>T (p.Asp10177Tyr)
c.56572G>T (p.Asp18858Tyr)
c.51970G>T (p.Asp17324Tyr)
c.51967G>T (p.Asp17323Tyr)
c.49009G>T (p.Asp16337Tyr)
c.30625G>T (p.Asp10209Tyr)
c.52120G>T (p.Asp17374Tyr)
c.52117G>T (p.Asp17373Tyr)
c.51550G>T (p.Asp17184Tyr)
c.48892G>T (p.Asp16298Tyr)
c.48811G>T (p.Asp16271Tyr)
c.30574G>T (p.Asp10192Tyr)
c.20428G>T (p.Asp6810Tyr)
2g.178595675C>GCA349515608TTN,TTN-AS1c.49975G>C (p.Asp16659His)
c.31060G>C (p.Asp10354His)
c.30859G>C (p.Asp10287His)
c.30484G>C (p.Asp10162His)
c.57679G>C (p.Asp19227His)
c.52756G>C (p.Asp17586His)
n.597-1921C>G
n.3365-1921C>G
c.56776G>C (p.Asp18926His)
c.30670G>C (p.Asp10224His)
c.30529G>C (p.Asp10177His)
c.56572G>C (p.Asp18858His)
c.51970G>C (p.Asp17324His)
c.51967G>C (p.Asp17323His)
c.49009G>C (p.Asp16337His)
c.30625G>C (p.Asp10209His)
c.52120G>C (p.Asp17374His)
c.52117G>C (p.Asp17373His)
c.51550G>C (p.Asp17184His)
c.48892G>C (p.Asp16298His)
c.48811G>C (p.Asp16271His)
c.30574G>C (p.Asp10192His)
c.20428G>C (p.Asp6810His)
2g.178595675C>TCA349515613TTN,TTN-AS1c.49975G>A (p.Asp16659Asn)
c.31060G>A (p.Asp10354Asn)
c.30859G>A (p.Asp10287Asn)
c.30484G>A (p.Asp10162Asn)
c.57679G>A (p.Asp19227Asn)
c.52756G>A (p.Asp17586Asn)
n.597-1921C>T
n.3365-1921C>T
c.56776G>A (p.Asp18926Asn)
c.30670G>A (p.Asp10224Asn)
c.30529G>A (p.Asp10177Asn)
c.56572G>A (p.Asp18858Asn)
c.51970G>A (p.Asp17324Asn)
c.51967G>A (p.Asp17323Asn)
c.49009G>A (p.Asp16337Asn)
c.30625G>A (p.Asp10209Asn)
c.52120G>A (p.Asp17374Asn)
c.52117G>A (p.Asp17373Asn)
c.51550G>A (p.Asp17184Asn)
c.48892G>A (p.Asp16298Asn)
c.48811G>A (p.Asp16271Asn)
c.30574G>A (p.Asp10192Asn)
c.20428G>A (p.Asp6810Asn)
 gnomAD v4
2g.178595676A=CA1310541646TTN,TTN-AS1c.49974T= (p.Ser16658=)
c.31059T= (p.Ser10353=)
c.30858T= (p.Ser10286=)
c.30483T= (p.Ser10161=)
c.57678T= (p.Ser19226=)
c.52755T= (p.Ser17585=)
n.597-1920A=
n.3365-1920A=
c.56775T= (p.Ser18925=)
c.30669T= (p.Ser10223=)
c.30528T= (p.Ser10176=)
c.56571T= (p.Ser18857=)
c.51969T= (p.Ser17323=)
c.51966T= (p.Ser17322=)
c.49008T= (p.Ser16336=)
c.30624T= (p.Ser10208=)
c.52119T= (p.Ser17373=)
c.52116T= (p.Ser17372=)
c.51549T= (p.Ser17183=)
c.48891T= (p.Ser16297=)
c.48810T= (p.Ser16270=)
c.30573T= (p.Ser10191=)
c.20427T= (p.Ser6809=)
2g.178595676A>CCA430093556TTN,TTN-AS1c.49974T>G (p.Ser16658=)
c.31059T>G (p.Ser10353=)
c.30858T>G (p.Ser10286=)
c.30483T>G (p.Ser10161=)
c.57678T>G (p.Ser19226=)
c.52755T>G (p.Ser17585=)
n.597-1920A>C
n.3365-1920A>C
c.56775T>G (p.Ser18925=)
c.30669T>G (p.Ser10223=)
c.30528T>G (p.Ser10176=)
c.56571T>G (p.Ser18857=)
c.51969T>G (p.Ser17323=)
c.51966T>G (p.Ser17322=)
c.49008T>G (p.Ser16336=)
c.30624T>G (p.Ser10208=)
c.52119T>G (p.Ser17373=)
c.52116T>G (p.Ser17372=)
c.51549T>G (p.Ser17183=)
c.48891T>G (p.Ser16297=)
c.48810T>G (p.Ser16270=)
c.30573T>G (p.Ser10191=)
c.20427T>G (p.Ser6809=)
 dbSNP
2g.178595676A>GCA430093554TTN,TTN-AS1c.49974T>C (p.Ser16658=)
c.31059T>C (p.Ser10353=)
c.30858T>C (p.Ser10286=)
c.30483T>C (p.Ser10161=)
c.57678T>C (p.Ser19226=)
c.52755T>C (p.Ser17585=)
n.597-1920A>G
n.3365-1920A>G
c.56775T>C (p.Ser18925=)
c.30669T>C (p.Ser10223=)
c.30528T>C (p.Ser10176=)
c.56571T>C (p.Ser18857=)
c.51969T>C (p.Ser17323=)
c.51966T>C (p.Ser17322=)
c.49008T>C (p.Ser16336=)
c.30624T>C (p.Ser10208=)
c.52119T>C (p.Ser17373=)
c.52116T>C (p.Ser17372=)
c.51549T>C (p.Ser17183=)
c.48891T>C (p.Ser16297=)
c.48810T>C (p.Ser16270=)
c.30573T>C (p.Ser10191=)
c.20427T>C (p.Ser6809=)
 ClinVar gnomAD v4
2g.178595676A>TCA430093552TTN,TTN-AS1c.49974T>A (p.Ser16658=)
c.31059T>A (p.Ser10353=)
c.30858T>A (p.Ser10286=)
c.30483T>A (p.Ser10161=)
c.57678T>A (p.Ser19226=)
c.52755T>A (p.Ser17585=)
n.597-1920A>T
n.3365-1920A>T
c.56775T>A (p.Ser18925=)
c.30669T>A (p.Ser10223=)
c.30528T>A (p.Ser10176=)
c.56571T>A (p.Ser18857=)
c.51969T>A (p.Ser17323=)
c.51966T>A (p.Ser17322=)
c.49008T>A (p.Ser16336=)
c.30624T>A (p.Ser10208=)
c.52119T>A (p.Ser17373=)
c.52116T>A (p.Ser17372=)
c.51549T>A (p.Ser17183=)
c.48891T>A (p.Ser16297=)
c.48810T>A (p.Ser16270=)
c.30573T>A (p.Ser10191=)
c.20427T>A (p.Ser6809=)
2g.178595677G>ACA349515617TTN,TTN-AS1c.49973C>T (p.Ser16658Phe)
c.31058C>T (p.Ser10353Phe)
c.30857C>T (p.Ser10286Phe)
c.30482C>T (p.Ser10161Phe)
c.57677C>T (p.Ser19226Phe)
c.52754C>T (p.Ser17585Phe)
n.597-1919G>A
n.3365-1919G>A
c.56774C>T (p.Ser18925Phe)
c.30668C>T (p.Ser10223Phe)
c.30527C>T (p.Ser10176Phe)
c.56570C>T (p.Ser18857Phe)
c.51968C>T (p.Ser17323Phe)
c.51965C>T (p.Ser17322Phe)
c.49007C>T (p.Ser16336Phe)
c.30623C>T (p.Ser10208Phe)
c.52118C>T (p.Ser17373Phe)
c.52115C>T (p.Ser17372Phe)
c.51548C>T (p.Ser17183Phe)
c.48890C>T (p.Ser16297Phe)
c.48809C>T (p.Ser16270Phe)
c.30572C>T (p.Ser10191Phe)
c.20426C>T (p.Ser6809Phe)
2g.178595677G>CCA349515625TTN,TTN-AS1c.49973C>G (p.Ser16658Cys)
c.31058C>G (p.Ser10353Cys)
c.30857C>G (p.Ser10286Cys)
c.30482C>G (p.Ser10161Cys)
c.57677C>G (p.Ser19226Cys)
c.52754C>G (p.Ser17585Cys)
n.597-1919G>C
n.3365-1919G>C
c.56774C>G (p.Ser18925Cys)
c.30668C>G (p.Ser10223Cys)
c.30527C>G (p.Ser10176Cys)
c.56570C>G (p.Ser18857Cys)
c.51968C>G (p.Ser17323Cys)
c.51965C>G (p.Ser17322Cys)
c.49007C>G (p.Ser16336Cys)
c.30623C>G (p.Ser10208Cys)
c.52118C>G (p.Ser17373Cys)
c.52115C>G (p.Ser17372Cys)
c.51548C>G (p.Ser17183Cys)
c.48890C>G (p.Ser16297Cys)
c.48809C>G (p.Ser16270Cys)
c.30572C>G (p.Ser10191Cys)
c.20426C>G (p.Ser6809Cys)
2g.178595677G>TCA349515629TTN,TTN-AS1c.49973C>A (p.Ser16658Tyr)
c.31058C>A (p.Ser10353Tyr)
c.30857C>A (p.Ser10286Tyr)
c.30482C>A (p.Ser10161Tyr)
c.57677C>A (p.Ser19226Tyr)
c.52754C>A (p.Ser17585Tyr)
n.597-1919G>T
n.3365-1919G>T
c.56774C>A (p.Ser18925Tyr)
c.30668C>A (p.Ser10223Tyr)
c.30527C>A (p.Ser10176Tyr)
c.56570C>A (p.Ser18857Tyr)
c.51968C>A (p.Ser17323Tyr)
c.51965C>A (p.Ser17322Tyr)
c.49007C>A (p.Ser16336Tyr)
c.30623C>A (p.Ser10208Tyr)
c.52118C>A (p.Ser17373Tyr)
c.52115C>A (p.Ser17372Tyr)
c.51548C>A (p.Ser17183Tyr)
c.48890C>A (p.Ser16297Tyr)
c.48809C>A (p.Ser16270Tyr)
c.30572C>A (p.Ser10191Tyr)
c.20426C>A (p.Ser6809Tyr)
2g.178595678A=CA1310541647TTN,TTN-AS1c.49972T= (p.Ser16658=)
c.31057T= (p.Ser10353=)
c.30856T= (p.Ser10286=)
c.30481T= (p.Ser10161=)
c.57676T= (p.Ser19226=)
c.52753T= (p.Ser17585=)
n.597-1918A=
n.3365-1918A=
c.56773T= (p.Ser18925=)
c.30667T= (p.Ser10223=)
c.30526T= (p.Ser10176=)
c.56569T= (p.Ser18857=)
c.51967T= (p.Ser17323=)
c.51964T= (p.Ser17322=)
c.49006T= (p.Ser16336=)
c.30622T= (p.Ser10208=)
c.52117T= (p.Ser17373=)
c.52114T= (p.Ser17372=)
c.51547T= (p.Ser17183=)
c.48889T= (p.Ser16297=)
c.48808T= (p.Ser16270=)
c.30571T= (p.Ser10191=)
c.20425T= (p.Ser6809=)
2g.178595678A>CCA349515634TTN,TTN-AS1c.49972T>G (p.Ser16658Ala)
c.31057T>G (p.Ser10353Ala)
c.30856T>G (p.Ser10286Ala)
c.30481T>G (p.Ser10161Ala)
c.57676T>G (p.Ser19226Ala)
c.52753T>G (p.Ser17585Ala)
n.597-1918A>C
n.3365-1918A>C
c.56773T>G (p.Ser18925Ala)
c.30667T>G (p.Ser10223Ala)
c.30526T>G (p.Ser10176Ala)
c.56569T>G (p.Ser18857Ala)
c.51967T>G (p.Ser17323Ala)
c.51964T>G (p.Ser17322Ala)
c.49006T>G (p.Ser16336Ala)
c.30622T>G (p.Ser10208Ala)
c.52117T>G (p.Ser17373Ala)
c.52114T>G (p.Ser17372Ala)
c.51547T>G (p.Ser17183Ala)
c.48889T>G (p.Ser16297Ala)
c.48808T>G (p.Ser16270Ala)
c.30571T>G (p.Ser10191Ala)
c.20425T>G (p.Ser6809Ala)
2g.178595678A>GCA349515637TTN,TTN-AS1c.49972T>C (p.Ser16658Pro)
c.31057T>C (p.Ser10353Pro)
c.30856T>C (p.Ser10286Pro)
c.30481T>C (p.Ser10161Pro)
c.57676T>C (p.Ser19226Pro)
c.52753T>C (p.Ser17585Pro)
n.597-1918A>G
n.3365-1918A>G
c.56773T>C (p.Ser18925Pro)
c.30667T>C (p.Ser10223Pro)
c.30526T>C (p.Ser10176Pro)
c.56569T>C (p.Ser18857Pro)
c.51967T>C (p.Ser17323Pro)
c.51964T>C (p.Ser17322Pro)
c.49006T>C (p.Ser16336Pro)
c.30622T>C (p.Ser10208Pro)
c.52117T>C (p.Ser17373Pro)
c.52114T>C (p.Ser17372Pro)
c.51547T>C (p.Ser17183Pro)
c.48889T>C (p.Ser16297Pro)
c.48808T>C (p.Ser16270Pro)
c.30571T>C (p.Ser10191Pro)
c.20425T>C (p.Ser6809Pro)
 dbSNP
2g.178595678A>TCA349515676TTN,TTN-AS1c.49972T>A (p.Ser16658Thr)
c.31057T>A (p.Ser10353Thr)
c.30856T>A (p.Ser10286Thr)
c.30481T>A (p.Ser10161Thr)
c.57676T>A (p.Ser19226Thr)
c.52753T>A (p.Ser17585Thr)
n.597-1918A>T
n.3365-1918A>T
c.56773T>A (p.Ser18925Thr)
c.30667T>A (p.Ser10223Thr)
c.30526T>A (p.Ser10176Thr)
c.56569T>A (p.Ser18857Thr)
c.51967T>A (p.Ser17323Thr)
c.51964T>A (p.Ser17322Thr)
c.49006T>A (p.Ser16336Thr)
c.30622T>A (p.Ser10208Thr)
c.52117T>A (p.Ser17373Thr)
c.52114T>A (p.Ser17372Thr)
c.51547T>A (p.Ser17183Thr)
c.48889T>A (p.Ser16297Thr)
c.48808T>A (p.Ser16270Thr)
c.30571T>A (p.Ser10191Thr)
c.20425T>A (p.Ser6809Thr)
2g.178595679T>ACA349515688TTN,TTN-AS1c.49971A>T (p.Glu16657Asp)
c.31056A>T (p.Glu10352Asp)
c.30855A>T (p.Glu10285Asp)
c.30480A>T (p.Glu10160Asp)
c.57675A>T (p.Glu19225Asp)
c.52752A>T (p.Glu17584Asp)
n.597-1917T>A
n.3365-1917T>A
c.56772A>T (p.Glu18924Asp)
c.30666A>T (p.Glu10222Asp)
c.30525A>T (p.Glu10175Asp)
c.56568A>T (p.Glu18856Asp)
c.51966A>T (p.Glu17322Asp)
c.51963A>T (p.Glu17321Asp)
c.49005A>T (p.Glu16335Asp)
c.30621A>T (p.Glu10207Asp)
c.52116A>T (p.Glu17372Asp)
c.52113A>T (p.Glu17371Asp)
c.51546A>T (p.Glu17182Asp)
c.48888A>T (p.Glu16296Asp)
c.48807A>T (p.Glu16269Asp)
c.30570A>T (p.Glu10190Asp)
c.20424A>T (p.Glu6808Asp)
2g.178595679T>CCA430093565TTN,TTN-AS1c.49971A>G (p.Glu16657=)
c.31056A>G (p.Glu10352=)
c.30855A>G (p.Glu10285=)
c.30480A>G (p.Glu10160=)
c.57675A>G (p.Glu19225=)
c.52752A>G (p.Glu17584=)
n.597-1917T>C
n.3365-1917T>C
c.56772A>G (p.Glu18924=)
c.30666A>G (p.Glu10222=)
c.30525A>G (p.Glu10175=)
c.56568A>G (p.Glu18856=)
c.51966A>G (p.Glu17322=)
c.51963A>G (p.Glu17321=)
c.49005A>G (p.Glu16335=)
c.30621A>G (p.Glu10207=)
c.52116A>G (p.Glu17372=)
c.52113A>G (p.Glu17371=)
c.51546A>G (p.Glu17182=)
c.48888A>G (p.Glu16296=)
c.48807A>G (p.Glu16269=)
c.30570A>G (p.Glu10190=)
c.20424A>G (p.Glu6808=)
2g.178595679T>GCA349515711TTN,TTN-AS1c.49971A>C (p.Glu16657Asp)
c.31056A>C (p.Glu10352Asp)
c.30855A>C (p.Glu10285Asp)
c.30480A>C (p.Glu10160Asp)
c.57675A>C (p.Glu19225Asp)
c.52752A>C (p.Glu17584Asp)
n.597-1917T>G
n.3365-1917T>G
c.56772A>C (p.Glu18924Asp)
c.30666A>C (p.Glu10222Asp)
c.30525A>C (p.Glu10175Asp)
c.56568A>C (p.Glu18856Asp)
c.51966A>C (p.Glu17322Asp)
c.51963A>C (p.Glu17321Asp)
c.49005A>C (p.Glu16335Asp)
c.30621A>C (p.Glu10207Asp)
c.52116A>C (p.Glu17372Asp)
c.52113A>C (p.Glu17371Asp)
c.51546A>C (p.Glu17182Asp)
c.48888A>C (p.Glu16296Asp)
c.48807A>C (p.Glu16269Asp)
c.30570A>C (p.Glu10190Asp)
c.20424A>C (p.Glu6808Asp)
2g.178595680T>ACA349515719TTN,TTN-AS1c.49970A>T (p.Glu16657Val)
c.31055A>T (p.Glu10352Val)
c.30854A>T (p.Glu10285Val)
c.30479A>T (p.Glu10160Val)
c.57674A>T (p.Glu19225Val)
c.52751A>T (p.Glu17584Val)
n.597-1916T>A
n.3365-1916T>A
c.56771A>T (p.Glu18924Val)
c.30665A>T (p.Glu10222Val)
c.30524A>T (p.Glu10175Val)
c.56567A>T (p.Glu18856Val)
c.51965A>T (p.Glu17322Val)
c.51962A>T (p.Glu17321Val)
c.49004A>T (p.Glu16335Val)
c.30620A>T (p.Glu10207Val)
c.52115A>T (p.Glu17372Val)
c.52112A>T (p.Glu17371Val)
c.51545A>T (p.Glu17182Val)
c.48887A>T (p.Glu16296Val)
c.48806A>T (p.Glu16269Val)
c.30569A>T (p.Glu10190Val)
c.20423A>T (p.Glu6808Val)
2g.178595680T>CCA349515718TTN,TTN-AS1c.49970A>G (p.Glu16657Gly)
c.31055A>G (p.Glu10352Gly)
c.30854A>G (p.Glu10285Gly)
c.30479A>G (p.Glu10160Gly)
c.57674A>G (p.Glu19225Gly)
c.52751A>G (p.Glu17584Gly)
n.597-1916T>C
n.3365-1916T>C
c.56771A>G (p.Glu18924Gly)
c.30665A>G (p.Glu10222Gly)
c.30524A>G (p.Glu10175Gly)
c.56567A>G (p.Glu18856Gly)
c.51965A>G (p.Glu17322Gly)
c.51962A>G (p.Glu17321Gly)
c.49004A>G (p.Glu16335Gly)
c.30620A>G (p.Glu10207Gly)
c.52115A>G (p.Glu17372Gly)
c.52112A>G (p.Glu17371Gly)
c.51545A>G (p.Glu17182Gly)
c.48887A>G (p.Glu16296Gly)
c.48806A>G (p.Glu16269Gly)
c.30569A>G (p.Glu10190Gly)
c.20423A>G (p.Glu6808Gly)
2g.178595680T>GCA349515717TTN,TTN-AS1c.49970A>C (p.Glu16657Ala)
c.31055A>C (p.Glu10352Ala)
c.30854A>C (p.Glu10285Ala)
c.30479A>C (p.Glu10160Ala)
c.57674A>C (p.Glu19225Ala)
c.52751A>C (p.Glu17584Ala)
n.597-1916T>G
n.3365-1916T>G
c.56771A>C (p.Glu18924Ala)
c.30665A>C (p.Glu10222Ala)
c.30524A>C (p.Glu10175Ala)
c.56567A>C (p.Glu18856Ala)
c.51965A>C (p.Glu17322Ala)
c.51962A>C (p.Glu17321Ala)
c.49004A>C (p.Glu16335Ala)
c.30620A>C (p.Glu10207Ala)
c.52115A>C (p.Glu17372Ala)
c.52112A>C (p.Glu17371Ala)
c.51545A>C (p.Glu17182Ala)
c.48887A>C (p.Glu16296Ala)
c.48806A>C (p.Glu16269Ala)
c.30569A>C (p.Glu10190Ala)
c.20423A>C (p.Glu6808Ala)
2g.178595681C>ACA349515721TTN,TTN-AS1c.49969G>T (p.Glu16657Ter)
c.31054G>T (p.Glu10352Ter)
c.30853G>T (p.Glu10285Ter)
c.30478G>T (p.Glu10160Ter)
c.57673G>T (p.Glu19225Ter)
c.52750G>T (p.Glu17584Ter)
n.597-1915C>A
n.3365-1915C>A
c.56770G>T (p.Glu18924Ter)
c.30664G>T (p.Glu10222Ter)
c.30523G>T (p.Glu10175Ter)
c.56566G>T (p.Glu18856Ter)
c.51964G>T (p.Glu17322Ter)
c.51961G>T (p.Glu17321Ter)
c.49003G>T (p.Glu16335Ter)
c.30619G>T (p.Glu10207Ter)
c.52114G>T (p.Glu17372Ter)
c.52111G>T (p.Glu17371Ter)
c.51544G>T (p.Glu17182Ter)
c.48886G>T (p.Glu16296Ter)
c.48805G>T (p.Glu16269Ter)
c.30568G>T (p.Glu10190Ter)
c.20422G>T (p.Glu6808Ter)
2g.178595681C=CA1310541648TTN,TTN-AS1c.49969G= (p.Glu16657=)
c.31054G= (p.Glu10352=)
c.30853G= (p.Glu10285=)
c.30478G= (p.Glu10160=)
c.57673G= (p.Glu19225=)
c.52750G= (p.Glu17584=)
n.597-1915C=
n.3365-1915C=
c.56770G= (p.Glu18924=)
c.30664G= (p.Glu10222=)
c.30523G= (p.Glu10175=)
c.56566G= (p.Glu18856=)
c.51964G= (p.Glu17322=)
c.51961G= (p.Glu17321=)
c.49003G= (p.Glu16335=)
c.30619G= (p.Glu10207=)
c.52114G= (p.Glu17372=)
c.52111G= (p.Glu17371=)
c.51544G= (p.Glu17182=)
c.48886G= (p.Glu16296=)
c.48805G= (p.Glu16269=)
c.30568G= (p.Glu10190=)
c.20422G= (p.Glu6808=)
2g.178595681C>GCA349515728TTN,TTN-AS1c.49969G>C (p.Glu16657Gln)
c.31054G>C (p.Glu10352Gln)
c.30853G>C (p.Glu10285Gln)
c.30478G>C (p.Glu10160Gln)
c.57673G>C (p.Glu19225Gln)
c.52750G>C (p.Glu17584Gln)
n.597-1915C>G
n.3365-1915C>G
c.56770G>C (p.Glu18924Gln)
c.30664G>C (p.Glu10222Gln)
c.30523G>C (p.Glu10175Gln)
c.56566G>C (p.Glu18856Gln)
c.51964G>C (p.Glu17322Gln)
c.51961G>C (p.Glu17321Gln)
c.49003G>C (p.Glu16335Gln)
c.30619G>C (p.Glu10207Gln)
c.52114G>C (p.Glu17372Gln)
c.52111G>C (p.Glu17371Gln)
c.51544G>C (p.Glu17182Gln)
c.48886G>C (p.Glu16296Gln)
c.48805G>C (p.Glu16269Gln)
c.30568G>C (p.Glu10190Gln)
c.20422G>C (p.Glu6808Gln)
2g.178595681C>TCA349515733TTN,TTN-AS1c.49969G>A (p.Glu16657Lys)
c.31054G>A (p.Glu10352Lys)
c.30853G>A (p.Glu10285Lys)
c.30478G>A (p.Glu10160Lys)
c.57673G>A (p.Glu19225Lys)
c.52750G>A (p.Glu17584Lys)
n.597-1915C>T
n.3365-1915C>T
c.56770G>A (p.Glu18924Lys)
c.30664G>A (p.Glu10222Lys)
c.30523G>A (p.Glu10175Lys)
c.56566G>A (p.Glu18856Lys)
c.51964G>A (p.Glu17322Lys)
c.51961G>A (p.Glu17321Lys)
c.49003G>A (p.Glu16335Lys)
c.30619G>A (p.Glu10207Lys)
c.52114G>A (p.Glu17372Lys)
c.52111G>A (p.Glu17371Lys)
c.51544G>A (p.Glu17182Lys)
c.48886G>A (p.Glu16296Lys)
c.48805G>A (p.Glu16269Lys)
c.30568G>A (p.Glu10190Lys)
c.20422G>A (p.Glu6808Lys)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178595682A>CCA430093574TTN,TTN-AS1c.49968T>G (p.Arg16656=)
c.31053T>G (p.Arg10351=)
c.30852T>G (p.Arg10284=)
c.30477T>G (p.Arg10159=)
c.57672T>G (p.Arg19224=)
c.52749T>G (p.Arg17583=)
n.597-1914A>C
n.3365-1914A>C
c.56769T>G (p.Arg18923=)
c.30663T>G (p.Arg10221=)
c.30522T>G (p.Arg10174=)
c.56565T>G (p.Arg18855=)
c.51963T>G (p.Arg17321=)
c.51960T>G (p.Arg17320=)
c.49002T>G (p.Arg16334=)
c.30618T>G (p.Arg10206=)
c.52113T>G (p.Arg17371=)
c.52110T>G (p.Arg17370=)
c.51543T>G (p.Arg17181=)
c.48885T>G (p.Arg16295=)
c.48804T>G (p.Arg16268=)
c.30567T>G (p.Arg10189=)
c.20421T>G (p.Arg6807=)
2g.178595682A>GCA430093575TTN,TTN-AS1c.49968T>C (p.Arg16656=)
c.31053T>C (p.Arg10351=)
c.30852T>C (p.Arg10284=)
c.30477T>C (p.Arg10159=)
c.57672T>C (p.Arg19224=)
c.52749T>C (p.Arg17583=)
n.597-1914A>G
n.3365-1914A>G
c.56769T>C (p.Arg18923=)
c.30663T>C (p.Arg10221=)
c.30522T>C (p.Arg10174=)
c.56565T>C (p.Arg18855=)
c.51963T>C (p.Arg17321=)
c.51960T>C (p.Arg17320=)
c.49002T>C (p.Arg16334=)
c.30618T>C (p.Arg10206=)
c.52113T>C (p.Arg17371=)
c.52110T>C (p.Arg17370=)
c.51543T>C (p.Arg17181=)
c.48885T>C (p.Arg16295=)
c.48804T>C (p.Arg16268=)
c.30567T>C (p.Arg10189=)
c.20421T>C (p.Arg6807=)
2g.178595682A>TCA430093578TTN,TTN-AS1c.49968T>A (p.Arg16656=)
c.31053T>A (p.Arg10351=)
c.30852T>A (p.Arg10284=)
c.30477T>A (p.Arg10159=)
c.57672T>A (p.Arg19224=)
c.52749T>A (p.Arg17583=)
n.597-1914A>T
n.3365-1914A>T
c.56769T>A (p.Arg18923=)
c.30663T>A (p.Arg10221=)
c.30522T>A (p.Arg10174=)
c.56565T>A (p.Arg18855=)
c.51963T>A (p.Arg17321=)
c.51960T>A (p.Arg17320=)
c.49002T>A (p.Arg16334=)
c.30618T>A (p.Arg10206=)
c.52113T>A (p.Arg17371=)
c.52110T>A (p.Arg17370=)
c.51543T>A (p.Arg17181=)
c.48885T>A (p.Arg16295=)
c.48804T>A (p.Arg16268=)
c.30567T>A (p.Arg10189=)
c.20421T>A (p.Arg6807=)
2g.178595683C>ACA349515736TTN,TTN-AS1c.49967G>T (p.Arg16656Leu)
c.31052G>T (p.Arg10351Leu)
c.30851G>T (p.Arg10284Leu)
c.30476G>T (p.Arg10159Leu)
c.57671G>T (p.Arg19224Leu)
c.52748G>T (p.Arg17583Leu)
n.597-1913C>A
n.3365-1913C>A
c.56768G>T (p.Arg18923Leu)
c.30662G>T (p.Arg10221Leu)
c.30521G>T (p.Arg10174Leu)
c.56564G>T (p.Arg18855Leu)
c.51962G>T (p.Arg17321Leu)
c.51959G>T (p.Arg17320Leu)
c.49001G>T (p.Arg16334Leu)
c.30617G>T (p.Arg10206Leu)
c.52112G>T (p.Arg17371Leu)
c.52109G>T (p.Arg17370Leu)
c.51542G>T (p.Arg17181Leu)
c.48884G>T (p.Arg16295Leu)
c.48803G>T (p.Arg16268Leu)
c.30566G>T (p.Arg10189Leu)
c.20420G>T (p.Arg6807Leu)
 gnomAD v4
2g.178595683C=CA1310541649TTN,TTN-AS1c.49967G= (p.Arg16656=)
c.31052G= (p.Arg10351=)
c.30851G= (p.Arg10284=)
c.30476G= (p.Arg10159=)
c.57671G= (p.Arg19224=)
c.52748G= (p.Arg17583=)
n.597-1913C=
n.3365-1913C=
c.56768G= (p.Arg18923=)
c.30662G= (p.Arg10221=)
c.30521G= (p.Arg10174=)
c.56564G= (p.Arg18855=)
c.51962G= (p.Arg17321=)
c.51959G= (p.Arg17320=)
c.49001G= (p.Arg16334=)
c.30617G= (p.Arg10206=)
c.52112G= (p.Arg17371=)
c.52109G= (p.Arg17370=)
c.51542G= (p.Arg17181=)
c.48884G= (p.Arg16295=)
c.48803G= (p.Arg16268=)
c.30566G= (p.Arg10189=)
c.20420G= (p.Arg6807=)
2g.178595683C>GCA349515746TTN,TTN-AS1c.49967G>C (p.Arg16656Pro)
c.31052G>C (p.Arg10351Pro)
c.30851G>C (p.Arg10284Pro)
c.30476G>C (p.Arg10159Pro)
c.57671G>C (p.Arg19224Pro)
c.52748G>C (p.Arg17583Pro)
n.597-1913C>G
n.3365-1913C>G
c.56768G>C (p.Arg18923Pro)
c.30662G>C (p.Arg10221Pro)
c.30521G>C (p.Arg10174Pro)
c.56564G>C (p.Arg18855Pro)
c.51962G>C (p.Arg17321Pro)
c.51959G>C (p.Arg17320Pro)
c.49001G>C (p.Arg16334Pro)
c.30617G>C (p.Arg10206Pro)
c.52112G>C (p.Arg17371Pro)
c.52109G>C (p.Arg17370Pro)
c.51542G>C (p.Arg17181Pro)
c.48884G>C (p.Arg16295Pro)
c.48803G>C (p.Arg16268Pro)
c.30566G>C (p.Arg10189Pro)
c.20420G>C (p.Arg6807Pro)
2g.178595683C>TCA1993009TTN,TTN-AS1c.49967G>A (p.Arg16656His)
c.31052G>A (p.Arg10351His)
c.30851G>A (p.Arg10284His)
c.30476G>A (p.Arg10159His)
c.57671G>A (p.Arg19224His)
c.52748G>A (p.Arg17583His)
n.597-1913C>T
n.3365-1913C>T
c.56768G>A (p.Arg18923His)
c.30662G>A (p.Arg10221His)
c.30521G>A (p.Arg10174His)
c.56564G>A (p.Arg18855His)
c.51962G>A (p.Arg17321His)
c.51959G>A (p.Arg17320His)
c.49001G>A (p.Arg16334His)
c.30617G>A (p.Arg10206His)
c.52112G>A (p.Arg17371His)
c.52109G>A (p.Arg17370His)
c.51542G>A (p.Arg17181His)
c.48884G>A (p.Arg16295His)
c.48803G>A (p.Arg16268His)
c.30566G>A (p.Arg10189His)
c.20420G>A (p.Arg6807His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178595684G>ACA1993010TTN,TTN-AS1c.49966C>T (p.Arg16656Cys)
c.31051C>T (p.Arg10351Cys)
c.30850C>T (p.Arg10284Cys)
c.30475C>T (p.Arg10159Cys)
c.57670C>T (p.Arg19224Cys)
c.52747C>T (p.Arg17583Cys)
n.597-1912G>A
n.3365-1912G>A
c.56767C>T (p.Arg18923Cys)
c.30661C>T (p.Arg10221Cys)
c.30520C>T (p.Arg10174Cys)
c.56563C>T (p.Arg18855Cys)
c.51961C>T (p.Arg17321Cys)
c.51958C>T (p.Arg17320Cys)
c.49000C>T (p.Arg16334Cys)
c.30616C>T (p.Arg10206Cys)
c.52111C>T (p.Arg17371Cys)
c.52108C>T (p.Arg17370Cys)
c.51541C>T (p.Arg17181Cys)
c.48883C>T (p.Arg16295Cys)
c.48802C>T (p.Arg16268Cys)
c.30565C>T (p.Arg10189Cys)
c.20419C>T (p.Arg6807Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178595684G>CCA349515767TTN,TTN-AS1c.49966C>G (p.Arg16656Gly)
c.31051C>G (p.Arg10351Gly)
c.30850C>G (p.Arg10284Gly)
c.30475C>G (p.Arg10159Gly)
c.57670C>G (p.Arg19224Gly)
c.52747C>G (p.Arg17583Gly)
n.597-1912G>C
n.3365-1912G>C
c.56767C>G (p.Arg18923Gly)
c.30661C>G (p.Arg10221Gly)
c.30520C>G (p.Arg10174Gly)
c.56563C>G (p.Arg18855Gly)
c.51961C>G (p.Arg17321Gly)
c.51958C>G (p.Arg17320Gly)
c.49000C>G (p.Arg16334Gly)
c.30616C>G (p.Arg10206Gly)
c.52111C>G (p.Arg17371Gly)
c.52108C>G (p.Arg17370Gly)
c.51541C>G (p.Arg17181Gly)
c.48883C>G (p.Arg16295Gly)
c.48802C>G (p.Arg16268Gly)
c.30565C>G (p.Arg10189Gly)
c.20419C>G (p.Arg6807Gly)
2g.178595684G=CA1310541650TTN,TTN-AS1c.49966C= (p.Arg16656=)
c.31051C= (p.Arg10351=)
c.30850C= (p.Arg10284=)
c.30475C= (p.Arg10159=)
c.57670C= (p.Arg19224=)
c.52747C= (p.Arg17583=)
n.597-1912G=
n.3365-1912G=
c.56767C= (p.Arg18923=)
c.30661C= (p.Arg10221=)
c.30520C= (p.Arg10174=)
c.56563C= (p.Arg18855=)
c.51961C= (p.Arg17321=)
c.51958C= (p.Arg17320=)
c.49000C= (p.Arg16334=)
c.30616C= (p.Arg10206=)
c.52111C= (p.Arg17371=)
c.52108C= (p.Arg17370=)
c.51541C= (p.Arg17181=)
c.48883C= (p.Arg16295=)
c.48802C= (p.Arg16268=)
c.30565C= (p.Arg10189=)
c.20419C= (p.Arg6807=)
2g.178595684G>TCA349515768TTN,TTN-AS1c.49966C>A (p.Arg16656Ser)
c.31051C>A (p.Arg10351Ser)
c.30850C>A (p.Arg10284Ser)
c.30475C>A (p.Arg10159Ser)
c.57670C>A (p.Arg19224Ser)
c.52747C>A (p.Arg17583Ser)
n.597-1912G>T
n.3365-1912G>T
c.56767C>A (p.Arg18923Ser)
c.30661C>A (p.Arg10221Ser)
c.30520C>A (p.Arg10174Ser)
c.56563C>A (p.Arg18855Ser)
c.51961C>A (p.Arg17321Ser)
c.51958C>A (p.Arg17320Ser)
c.49000C>A (p.Arg16334Ser)
c.30616C>A (p.Arg10206Ser)
c.52111C>A (p.Arg17371Ser)
c.52108C>A (p.Arg17370Ser)
c.51541C>A (p.Arg17181Ser)
c.48883C>A (p.Arg16295Ser)
c.48802C>A (p.Arg16268Ser)
c.30565C>A (p.Arg10189Ser)
c.20419C>A (p.Arg6807Ser)

Number of alleles fetched