Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178613917G>ACA184773TTN,TTN-AS1c.41662C>T (p.Arg13888Cys)
c.22747C>T (p.Arg7583Cys)
c.22546C>T (p.Arg7516Cys)
c.22171C>T (p.Arg7391Cys)
c.49366C>T (p.Arg16456Cys)
c.44443C>T (p.Arg14815Cys)
n.783-118G>A
c.48463C>T (p.Arg16155Cys)
c.22357C>T (p.Arg7453Cys)
c.22216C>T (p.Arg7406Cys)
c.48259C>T (p.Arg16087Cys)
c.43657C>T (p.Arg14553Cys)
c.43654C>T (p.Arg14552Cys)
c.40696C>T (p.Arg13566Cys)
c.22312C>T (p.Arg7438Cys)
c.43807C>T (p.Arg14603Cys)
c.43804C>T (p.Arg14602Cys)
c.43237C>T (p.Arg14413Cys)
c.40579C>T (p.Arg13527Cys)
c.40498C>T (p.Arg13500Cys)
c.22261C>T (p.Arg7421Cys)
c.12115C>T (p.Arg4039Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178613917G>CCA349604941TTN,TTN-AS1c.41662C>G (p.Arg13888Gly)
c.22747C>G (p.Arg7583Gly)
c.22546C>G (p.Arg7516Gly)
c.22171C>G (p.Arg7391Gly)
c.49366C>G (p.Arg16456Gly)
c.44443C>G (p.Arg14815Gly)
n.783-118G>C
c.48463C>G (p.Arg16155Gly)
c.22357C>G (p.Arg7453Gly)
c.22216C>G (p.Arg7406Gly)
c.48259C>G (p.Arg16087Gly)
c.43657C>G (p.Arg14553Gly)
c.43654C>G (p.Arg14552Gly)
c.40696C>G (p.Arg13566Gly)
c.22312C>G (p.Arg7438Gly)
c.43807C>G (p.Arg14603Gly)
c.43804C>G (p.Arg14602Gly)
c.43237C>G (p.Arg14413Gly)
c.40579C>G (p.Arg13527Gly)
c.40498C>G (p.Arg13500Gly)
c.22261C>G (p.Arg7421Gly)
c.12115C>G (p.Arg4039Gly)
2g.178613917G=CA1310549128TTN,TTN-AS1c.41662C= (p.Arg13888=)
c.22747C= (p.Arg7583=)
c.22546C= (p.Arg7516=)
c.22171C= (p.Arg7391=)
c.49366C= (p.Arg16456=)
c.44443C= (p.Arg14815=)
n.783-118G=
c.48463C= (p.Arg16155=)
c.22357C= (p.Arg7453=)
c.22216C= (p.Arg7406=)
c.48259C= (p.Arg16087=)
c.43657C= (p.Arg14553=)
c.43654C= (p.Arg14552=)
c.40696C= (p.Arg13566=)
c.22312C= (p.Arg7438=)
c.43807C= (p.Arg14603=)
c.43804C= (p.Arg14602=)
c.43237C= (p.Arg14413=)
c.40579C= (p.Arg13527=)
c.40498C= (p.Arg13500=)
c.22261C= (p.Arg7421=)
c.12115C= (p.Arg4039=)
2g.178613917G>TCA349604943TTN,TTN-AS1c.41662C>A (p.Arg13888Ser)
c.22747C>A (p.Arg7583Ser)
c.22546C>A (p.Arg7516Ser)
c.22171C>A (p.Arg7391Ser)
c.49366C>A (p.Arg16456Ser)
c.44443C>A (p.Arg14815Ser)
n.783-118G>T
c.48463C>A (p.Arg16155Ser)
c.22357C>A (p.Arg7453Ser)
c.22216C>A (p.Arg7406Ser)
c.48259C>A (p.Arg16087Ser)
c.43657C>A (p.Arg14553Ser)
c.43654C>A (p.Arg14552Ser)
c.40696C>A (p.Arg13566Ser)
c.22312C>A (p.Arg7438Ser)
c.43807C>A (p.Arg14603Ser)
c.43804C>A (p.Arg14602Ser)
c.43237C>A (p.Arg14413Ser)
c.40579C>A (p.Arg13527Ser)
c.40498C>A (p.Arg13500Ser)
c.22261C>A (p.Arg7421Ser)
c.12115C>A (p.Arg4039Ser)
2g.178613918A=CA1310549129TTN,TTN-AS1c.41661T= (p.Thr13887=)
c.22746T= (p.Thr7582=)
c.22545T= (p.Thr7515=)
c.22170T= (p.Thr7390=)
c.49365T= (p.Thr16455=)
c.44442T= (p.Thr14814=)
n.783-117A=
c.48462T= (p.Thr16154=)
c.22356T= (p.Thr7452=)
c.22215T= (p.Thr7405=)
c.48258T= (p.Thr16086=)
c.43656T= (p.Thr14552=)
c.43653T= (p.Thr14551=)
c.40695T= (p.Thr13565=)
c.22311T= (p.Thr7437=)
c.43806T= (p.Thr14602=)
c.43803T= (p.Thr14601=)
c.43236T= (p.Thr14412=)
c.40578T= (p.Thr13526=)
c.40497T= (p.Thr13499=)
c.22260T= (p.Thr7420=)
c.12114T= (p.Thr4038=)
2g.178613918A>CCA430272920TTN,TTN-AS1c.41661T>G (p.Thr13887=)
c.22746T>G (p.Thr7582=)
c.22545T>G (p.Thr7515=)
c.22170T>G (p.Thr7390=)
c.49365T>G (p.Thr16455=)
c.44442T>G (p.Thr14814=)
n.783-117A>C
c.48462T>G (p.Thr16154=)
c.22356T>G (p.Thr7452=)
c.22215T>G (p.Thr7405=)
c.48258T>G (p.Thr16086=)
c.43656T>G (p.Thr14552=)
c.43653T>G (p.Thr14551=)
c.40695T>G (p.Thr13565=)
c.22311T>G (p.Thr7437=)
c.43806T>G (p.Thr14602=)
c.43803T>G (p.Thr14601=)
c.43236T>G (p.Thr14412=)
c.40578T>G (p.Thr13526=)
c.40497T>G (p.Thr13499=)
c.22260T>G (p.Thr7420=)
c.12114T>G (p.Thr4038=)
2g.178613918A>GCA1994611TTN,TTN-AS1c.41661T>C (p.Thr13887=)
c.22746T>C (p.Thr7582=)
c.22545T>C (p.Thr7515=)
c.22170T>C (p.Thr7390=)
c.49365T>C (p.Thr16455=)
c.44442T>C (p.Thr14814=)
n.783-117A>G
c.48462T>C (p.Thr16154=)
c.22356T>C (p.Thr7452=)
c.22215T>C (p.Thr7405=)
c.48258T>C (p.Thr16086=)
c.43656T>C (p.Thr14552=)
c.43653T>C (p.Thr14551=)
c.40695T>C (p.Thr13565=)
c.22311T>C (p.Thr7437=)
c.43806T>C (p.Thr14602=)
c.43803T>C (p.Thr14601=)
c.43236T>C (p.Thr14412=)
c.40578T>C (p.Thr13526=)
c.40497T>C (p.Thr13499=)
c.22260T>C (p.Thr7420=)
c.12114T>C (p.Thr4038=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178613918A>TCA430272921TTN,TTN-AS1c.41661T>A (p.Thr13887=)
c.22746T>A (p.Thr7582=)
c.22545T>A (p.Thr7515=)
c.22170T>A (p.Thr7390=)
c.49365T>A (p.Thr16455=)
c.44442T>A (p.Thr14814=)
n.783-117A>T
c.48462T>A (p.Thr16154=)
c.22356T>A (p.Thr7452=)
c.22215T>A (p.Thr7405=)
c.48258T>A (p.Thr16086=)
c.43656T>A (p.Thr14552=)
c.43653T>A (p.Thr14551=)
c.40695T>A (p.Thr13565=)
c.22311T>A (p.Thr7437=)
c.43806T>A (p.Thr14602=)
c.43803T>A (p.Thr14601=)
c.43236T>A (p.Thr14412=)
c.40578T>A (p.Thr13526=)
c.40497T>A (p.Thr13499=)
c.22260T>A (p.Thr7420=)
c.12114T>A (p.Thr4038=)
2g.178613919G>ACA349604946TTN,TTN-AS1c.41660C>T (p.Thr13887Ile)
c.22745C>T (p.Thr7582Ile)
c.22544C>T (p.Thr7515Ile)
c.22169C>T (p.Thr7390Ile)
c.49364C>T (p.Thr16455Ile)
c.44441C>T (p.Thr14814Ile)
n.783-116G>A
c.48461C>T (p.Thr16154Ile)
c.22355C>T (p.Thr7452Ile)
c.22214C>T (p.Thr7405Ile)
c.48257C>T (p.Thr16086Ile)
c.43655C>T (p.Thr14552Ile)
c.43652C>T (p.Thr14551Ile)
c.40694C>T (p.Thr13565Ile)
c.22310C>T (p.Thr7437Ile)
c.43805C>T (p.Thr14602Ile)
c.43802C>T (p.Thr14601Ile)
c.43235C>T (p.Thr14412Ile)
c.40577C>T (p.Thr13526Ile)
c.40496C>T (p.Thr13499Ile)
c.22259C>T (p.Thr7420Ile)
c.12113C>T (p.Thr4038Ile)
2g.178613919G>CCA349604947TTN,TTN-AS1c.41660C>G (p.Thr13887Ser)
c.22745C>G (p.Thr7582Ser)
c.22544C>G (p.Thr7515Ser)
c.22169C>G (p.Thr7390Ser)
c.49364C>G (p.Thr16455Ser)
c.44441C>G (p.Thr14814Ser)
n.783-116G>C
c.48461C>G (p.Thr16154Ser)
c.22355C>G (p.Thr7452Ser)
c.22214C>G (p.Thr7405Ser)
c.48257C>G (p.Thr16086Ser)
c.43655C>G (p.Thr14552Ser)
c.43652C>G (p.Thr14551Ser)
c.40694C>G (p.Thr13565Ser)
c.22310C>G (p.Thr7437Ser)
c.43805C>G (p.Thr14602Ser)
c.43802C>G (p.Thr14601Ser)
c.43235C>G (p.Thr14412Ser)
c.40577C>G (p.Thr13526Ser)
c.40496C>G (p.Thr13499Ser)
c.22259C>G (p.Thr7420Ser)
c.12113C>G (p.Thr4038Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.178613919G=CA1310549130TTN,TTN-AS1c.41660C= (p.Thr13887=)
c.22745C= (p.Thr7582=)
c.22544C= (p.Thr7515=)
c.22169C= (p.Thr7390=)
c.49364C= (p.Thr16455=)
c.44441C= (p.Thr14814=)
n.783-116G=
c.48461C= (p.Thr16154=)
c.22355C= (p.Thr7452=)
c.22214C= (p.Thr7405=)
c.48257C= (p.Thr16086=)
c.43655C= (p.Thr14552=)
c.43652C= (p.Thr14551=)
c.40694C= (p.Thr13565=)
c.22310C= (p.Thr7437=)
c.43805C= (p.Thr14602=)
c.43802C= (p.Thr14601=)
c.43235C= (p.Thr14412=)
c.40577C= (p.Thr13526=)
c.40496C= (p.Thr13499=)
c.22259C= (p.Thr7420=)
c.12113C= (p.Thr4038=)
2g.178613919G>TCA349604948TTN,TTN-AS1c.41660C>A (p.Thr13887Asn)
c.22745C>A (p.Thr7582Asn)
c.22544C>A (p.Thr7515Asn)
c.22169C>A (p.Thr7390Asn)
c.49364C>A (p.Thr16455Asn)
c.44441C>A (p.Thr14814Asn)
n.783-116G>T
c.48461C>A (p.Thr16154Asn)
c.22355C>A (p.Thr7452Asn)
c.22214C>A (p.Thr7405Asn)
c.48257C>A (p.Thr16086Asn)
c.43655C>A (p.Thr14552Asn)
c.43652C>A (p.Thr14551Asn)
c.40694C>A (p.Thr13565Asn)
c.22310C>A (p.Thr7437Asn)
c.43805C>A (p.Thr14602Asn)
c.43802C>A (p.Thr14601Asn)
c.43235C>A (p.Thr14412Asn)
c.40577C>A (p.Thr13526Asn)
c.40496C>A (p.Thr13499Asn)
c.22259C>A (p.Thr7420Asn)
c.12113C>A (p.Thr4038Asn)
2g.178613920T>ACA349604950TTN,TTN-AS1c.41659A>T (p.Thr13887Ser)
c.22744A>T (p.Thr7582Ser)
c.22543A>T (p.Thr7515Ser)
c.22168A>T (p.Thr7390Ser)
c.49363A>T (p.Thr16455Ser)
c.44440A>T (p.Thr14814Ser)
n.783-115T>A
c.48460A>T (p.Thr16154Ser)
c.22354A>T (p.Thr7452Ser)
c.22213A>T (p.Thr7405Ser)
c.48256A>T (p.Thr16086Ser)
c.43654A>T (p.Thr14552Ser)
c.43651A>T (p.Thr14551Ser)
c.40693A>T (p.Thr13565Ser)
c.22309A>T (p.Thr7437Ser)
c.43804A>T (p.Thr14602Ser)
c.43801A>T (p.Thr14601Ser)
c.43234A>T (p.Thr14412Ser)
c.40576A>T (p.Thr13526Ser)
c.40495A>T (p.Thr13499Ser)
c.22258A>T (p.Thr7420Ser)
c.12112A>T (p.Thr4038Ser)
2g.178613920T>CCA309950TTN,TTN-AS1c.41659A>G (p.Thr13887Ala)
c.22744A>G (p.Thr7582Ala)
c.22543A>G (p.Thr7515Ala)
c.22168A>G (p.Thr7390Ala)
c.49363A>G (p.Thr16455Ala)
c.44440A>G (p.Thr14814Ala)
n.783-115T>C
c.48460A>G (p.Thr16154Ala)
c.22354A>G (p.Thr7452Ala)
c.22213A>G (p.Thr7405Ala)
c.48256A>G (p.Thr16086Ala)
c.43654A>G (p.Thr14552Ala)
c.43651A>G (p.Thr14551Ala)
c.40693A>G (p.Thr13565Ala)
c.22309A>G (p.Thr7437Ala)
c.43804A>G (p.Thr14602Ala)
c.43801A>G (p.Thr14601Ala)
c.43234A>G (p.Thr14412Ala)
c.40576A>G (p.Thr13526Ala)
c.40495A>G (p.Thr13499Ala)
c.22258A>G (p.Thr7420Ala)
c.12112A>G (p.Thr4038Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178613920T>GCA349604951TTN,TTN-AS1c.41659A>C (p.Thr13887Pro)
c.22744A>C (p.Thr7582Pro)
c.22543A>C (p.Thr7515Pro)
c.22168A>C (p.Thr7390Pro)
c.49363A>C (p.Thr16455Pro)
c.44440A>C (p.Thr14814Pro)
n.783-115T>G
c.48460A>C (p.Thr16154Pro)
c.22354A>C (p.Thr7452Pro)
c.22213A>C (p.Thr7405Pro)
c.48256A>C (p.Thr16086Pro)
c.43654A>C (p.Thr14552Pro)
c.43651A>C (p.Thr14551Pro)
c.40693A>C (p.Thr13565Pro)
c.22309A>C (p.Thr7437Pro)
c.43804A>C (p.Thr14602Pro)
c.43801A>C (p.Thr14601Pro)
c.43234A>C (p.Thr14412Pro)
c.40576A>C (p.Thr13526Pro)
c.40495A>C (p.Thr13499Pro)
c.22258A>C (p.Thr7420Pro)
c.12112A>C (p.Thr4038Pro)
2g.178613920T=CA1310549131TTN,TTN-AS1c.41659A= (p.Thr13887=)
c.22744A= (p.Thr7582=)
c.22543A= (p.Thr7515=)
c.22168A= (p.Thr7390=)
c.49363A= (p.Thr16455=)
c.44440A= (p.Thr14814=)
n.783-115T=
c.48460A= (p.Thr16154=)
c.22354A= (p.Thr7452=)
c.22213A= (p.Thr7405=)
c.48256A= (p.Thr16086=)
c.43654A= (p.Thr14552=)
c.43651A= (p.Thr14551=)
c.40693A= (p.Thr13565=)
c.22309A= (p.Thr7437=)
c.43804A= (p.Thr14602=)
c.43801A= (p.Thr14601=)
c.43234A= (p.Thr14412=)
c.40576A= (p.Thr13526=)
c.40495A= (p.Thr13499=)
c.22258A= (p.Thr7420=)
c.12112A= (p.Thr4038=)
2g.178613921dupCA2586970837TTN,TTN-AS1c.41659dup (p.Thr13887AsnfsTer7)
c.22744dup (p.Thr7582AsnfsTer7)
c.22543dup (p.Thr7515AsnfsTer7)
c.22168dup (p.Thr7390AsnfsTer7)
c.49363dup (p.Thr16455AsnfsTer7)
c.44440dup (p.Thr14814AsnfsTer7)
n.783-114dup
c.48460dup (p.Thr16154AsnfsTer7)
c.22354dup (p.Thr7452AsnfsTer7)
c.22213dup (p.Thr7405AsnfsTer7)
c.48256dup (p.Thr16086AsnfsTer7)
c.43654dup (p.Thr14552AsnfsTer7)
c.43651dup (p.Thr14551AsnfsTer7)
c.40693dup (p.Thr13565AsnfsTer7)
c.22309dup (p.Thr7437AsnfsTer7)
c.43804dup (p.Thr14602AsnfsTer7)
c.43801dup (p.Thr14601AsnfsTer7)
c.43234dup (p.Thr14412AsnfsTer7)
c.40576dup (p.Thr13526AsnfsTer7)
c.40495dup (p.Thr13499AsnfsTer7)
c.22258dup (p.Thr7420AsnfsTer7)
c.12112dup (p.Thr4038AsnfsTer7)
2g.178613921T>ACA430272922TTN,TTN-AS1c.41658A>T (p.Pro13886=)
c.22743A>T (p.Pro7581=)
c.22542A>T (p.Pro7514=)
c.22167A>T (p.Pro7389=)
c.49362A>T (p.Pro16454=)
c.44439A>T (p.Pro14813=)
n.783-114T>A
c.48459A>T (p.Pro16153=)
c.22353A>T (p.Pro7451=)
c.22212A>T (p.Pro7404=)
c.48255A>T (p.Pro16085=)
c.43653A>T (p.Pro14551=)
c.43650A>T (p.Pro14550=)
c.40692A>T (p.Pro13564=)
c.22308A>T (p.Pro7436=)
c.43803A>T (p.Pro14601=)
c.43800A>T (p.Pro14600=)
c.43233A>T (p.Pro14411=)
c.40575A>T (p.Pro13525=)
c.40494A>T (p.Pro13498=)
c.22257A>T (p.Pro7419=)
c.12111A>T (p.Pro4037=)
2g.178613921T>CCA430272923TTN,TTN-AS1c.41658A>G (p.Pro13886=)
c.22743A>G (p.Pro7581=)
c.22542A>G (p.Pro7514=)
c.22167A>G (p.Pro7389=)
c.49362A>G (p.Pro16454=)
c.44439A>G (p.Pro14813=)
n.783-114T>C
c.48459A>G (p.Pro16153=)
c.22353A>G (p.Pro7451=)
c.22212A>G (p.Pro7404=)
c.48255A>G (p.Pro16085=)
c.43653A>G (p.Pro14551=)
c.43650A>G (p.Pro14550=)
c.40692A>G (p.Pro13564=)
c.22308A>G (p.Pro7436=)
c.43803A>G (p.Pro14601=)
c.43800A>G (p.Pro14600=)
c.43233A>G (p.Pro14411=)
c.40575A>G (p.Pro13525=)
c.40494A>G (p.Pro13498=)
c.22257A>G (p.Pro7419=)
c.12111A>G (p.Pro4037=)
2g.178613921T>GCA430272925TTN,TTN-AS1c.41658A>C (p.Pro13886=)
c.22743A>C (p.Pro7581=)
c.22542A>C (p.Pro7514=)
c.22167A>C (p.Pro7389=)
c.49362A>C (p.Pro16454=)
c.44439A>C (p.Pro14813=)
n.783-114T>G
c.48459A>C (p.Pro16153=)
c.22353A>C (p.Pro7451=)
c.22212A>C (p.Pro7404=)
c.48255A>C (p.Pro16085=)
c.43653A>C (p.Pro14551=)
c.43650A>C (p.Pro14550=)
c.40692A>C (p.Pro13564=)
c.22308A>C (p.Pro7436=)
c.43803A>C (p.Pro14601=)
c.43800A>C (p.Pro14600=)
c.43233A>C (p.Pro14411=)
c.40575A>C (p.Pro13525=)
c.40494A>C (p.Pro13498=)
c.22257A>C (p.Pro7419=)
c.12111A>C (p.Pro4037=)
2g.178613922G>ACA349604959TTN,TTN-AS1c.41657C>T (p.Pro13886Leu)
c.22742C>T (p.Pro7581Leu)
c.22541C>T (p.Pro7514Leu)
c.22166C>T (p.Pro7389Leu)
c.49361C>T (p.Pro16454Leu)
c.44438C>T (p.Pro14813Leu)
n.783-113G>A
c.48458C>T (p.Pro16153Leu)
c.22352C>T (p.Pro7451Leu)
c.22211C>T (p.Pro7404Leu)
c.48254C>T (p.Pro16085Leu)
c.43652C>T (p.Pro14551Leu)
c.43649C>T (p.Pro14550Leu)
c.40691C>T (p.Pro13564Leu)
c.22307C>T (p.Pro7436Leu)
c.43802C>T (p.Pro14601Leu)
c.43799C>T (p.Pro14600Leu)
c.43232C>T (p.Pro14411Leu)
c.40574C>T (p.Pro13525Leu)
c.40493C>T (p.Pro13498Leu)
c.22256C>T (p.Pro7419Leu)
c.12110C>T (p.Pro4037Leu)
2g.178613922G>CCA349604957TTN,TTN-AS1c.41657C>G (p.Pro13886Arg)
c.22742C>G (p.Pro7581Arg)
c.22541C>G (p.Pro7514Arg)
c.22166C>G (p.Pro7389Arg)
c.49361C>G (p.Pro16454Arg)
c.44438C>G (p.Pro14813Arg)
n.783-113G>C
c.48458C>G (p.Pro16153Arg)
c.22352C>G (p.Pro7451Arg)
c.22211C>G (p.Pro7404Arg)
c.48254C>G (p.Pro16085Arg)
c.43652C>G (p.Pro14551Arg)
c.43649C>G (p.Pro14550Arg)
c.40691C>G (p.Pro13564Arg)
c.22307C>G (p.Pro7436Arg)
c.43802C>G (p.Pro14601Arg)
c.43799C>G (p.Pro14600Arg)
c.43232C>G (p.Pro14411Arg)
c.40574C>G (p.Pro13525Arg)
c.40493C>G (p.Pro13498Arg)
c.22256C>G (p.Pro7419Arg)
c.12110C>G (p.Pro4037Arg)
2g.178613922G>TCA349604955TTN,TTN-AS1c.41657C>A (p.Pro13886Gln)
c.22742C>A (p.Pro7581Gln)
c.22541C>A (p.Pro7514Gln)
c.22166C>A (p.Pro7389Gln)
c.49361C>A (p.Pro16454Gln)
c.44438C>A (p.Pro14813Gln)
n.783-113G>T
c.48458C>A (p.Pro16153Gln)
c.22352C>A (p.Pro7451Gln)
c.22211C>A (p.Pro7404Gln)
c.48254C>A (p.Pro16085Gln)
c.43652C>A (p.Pro14551Gln)
c.43649C>A (p.Pro14550Gln)
c.40691C>A (p.Pro13564Gln)
c.22307C>A (p.Pro7436Gln)
c.43802C>A (p.Pro14601Gln)
c.43799C>A (p.Pro14600Gln)
c.43232C>A (p.Pro14411Gln)
c.40574C>A (p.Pro13525Gln)
c.40493C>A (p.Pro13498Gln)
c.22256C>A (p.Pro7419Gln)
c.12110C>A (p.Pro4037Gln)
 gnomAD v4
2g.178613923G>ACA349604961TTN,TTN-AS1c.41656C>T (p.Pro13886Ser)
c.22741C>T (p.Pro7581Ser)
c.22540C>T (p.Pro7514Ser)
c.22165C>T (p.Pro7389Ser)
c.49360C>T (p.Pro16454Ser)
c.44437C>T (p.Pro14813Ser)
n.783-112G>A
c.48457C>T (p.Pro16153Ser)
c.22351C>T (p.Pro7451Ser)
c.22210C>T (p.Pro7404Ser)
c.48253C>T (p.Pro16085Ser)
c.43651C>T (p.Pro14551Ser)
c.43648C>T (p.Pro14550Ser)
c.40690C>T (p.Pro13564Ser)
c.22306C>T (p.Pro7436Ser)
c.43801C>T (p.Pro14601Ser)
c.43798C>T (p.Pro14600Ser)
c.43231C>T (p.Pro14411Ser)
c.40573C>T (p.Pro13525Ser)
c.40492C>T (p.Pro13498Ser)
c.22255C>T (p.Pro7419Ser)
c.12109C>T (p.Pro4037Ser)
2g.178613923G>CCA349604962TTN,TTN-AS1c.41656C>G (p.Pro13886Ala)
c.22741C>G (p.Pro7581Ala)
c.22540C>G (p.Pro7514Ala)
c.22165C>G (p.Pro7389Ala)
c.49360C>G (p.Pro16454Ala)
c.44437C>G (p.Pro14813Ala)
n.783-112G>C
c.48457C>G (p.Pro16153Ala)
c.22351C>G (p.Pro7451Ala)
c.22210C>G (p.Pro7404Ala)
c.48253C>G (p.Pro16085Ala)
c.43651C>G (p.Pro14551Ala)
c.43648C>G (p.Pro14550Ala)
c.40690C>G (p.Pro13564Ala)
c.22306C>G (p.Pro7436Ala)
c.43801C>G (p.Pro14601Ala)
c.43798C>G (p.Pro14600Ala)
c.43231C>G (p.Pro14411Ala)
c.40573C>G (p.Pro13525Ala)
c.40492C>G (p.Pro13498Ala)
c.22255C>G (p.Pro7419Ala)
c.12109C>G (p.Pro4037Ala)
2g.178613923G>TCA349604968TTN,TTN-AS1c.41656C>A (p.Pro13886Thr)
c.22741C>A (p.Pro7581Thr)
c.22540C>A (p.Pro7514Thr)
c.22165C>A (p.Pro7389Thr)
c.49360C>A (p.Pro16454Thr)
c.44437C>A (p.Pro14813Thr)
n.783-112G>T
c.48457C>A (p.Pro16153Thr)
c.22351C>A (p.Pro7451Thr)
c.22210C>A (p.Pro7404Thr)
c.48253C>A (p.Pro16085Thr)
c.43651C>A (p.Pro14551Thr)
c.43648C>A (p.Pro14550Thr)
c.40690C>A (p.Pro13564Thr)
c.22306C>A (p.Pro7436Thr)
c.43801C>A (p.Pro14601Thr)
c.43798C>A (p.Pro14600Thr)
c.43231C>A (p.Pro14411Thr)
c.40573C>A (p.Pro13525Thr)
c.40492C>A (p.Pro13498Thr)
c.22255C>A (p.Pro7419Thr)
c.12109C>A (p.Pro4037Thr)
2g.178613924A>CCA430272926TTN,TTN-AS1c.41655T>G (p.Pro13885=)
c.22740T>G (p.Pro7580=)
c.22539T>G (p.Pro7513=)
c.22164T>G (p.Pro7388=)
c.49359T>G (p.Pro16453=)
c.44436T>G (p.Pro14812=)
n.783-111A>C
c.48456T>G (p.Pro16152=)
c.22350T>G (p.Pro7450=)
c.22209T>G (p.Pro7403=)
c.48252T>G (p.Pro16084=)
c.43650T>G (p.Pro14550=)
c.43647T>G (p.Pro14549=)
c.40689T>G (p.Pro13563=)
c.22305T>G (p.Pro7435=)
c.43800T>G (p.Pro14600=)
c.43797T>G (p.Pro14599=)
c.43230T>G (p.Pro14410=)
c.40572T>G (p.Pro13524=)
c.40491T>G (p.Pro13497=)
c.22254T>G (p.Pro7418=)
c.12108T>G (p.Pro4036=)
2g.178613924A>GCA430272927TTN,TTN-AS1c.41655T>C (p.Pro13885=)
c.22740T>C (p.Pro7580=)
c.22539T>C (p.Pro7513=)
c.22164T>C (p.Pro7388=)
c.49359T>C (p.Pro16453=)
c.44436T>C (p.Pro14812=)
n.783-111A>G
c.48456T>C (p.Pro16152=)
c.22350T>C (p.Pro7450=)
c.22209T>C (p.Pro7403=)
c.48252T>C (p.Pro16084=)
c.43650T>C (p.Pro14550=)
c.43647T>C (p.Pro14549=)
c.40689T>C (p.Pro13563=)
c.22305T>C (p.Pro7435=)
c.43800T>C (p.Pro14600=)
c.43797T>C (p.Pro14599=)
c.43230T>C (p.Pro14410=)
c.40572T>C (p.Pro13524=)
c.40491T>C (p.Pro13497=)
c.22254T>C (p.Pro7418=)
c.12108T>C (p.Pro4036=)
2g.178613924A>TCA430272928TTN,TTN-AS1c.41655T>A (p.Pro13885=)
c.22740T>A (p.Pro7580=)
c.22539T>A (p.Pro7513=)
c.22164T>A (p.Pro7388=)
c.49359T>A (p.Pro16453=)
c.44436T>A (p.Pro14812=)
n.783-111A>T
c.48456T>A (p.Pro16152=)
c.22350T>A (p.Pro7450=)
c.22209T>A (p.Pro7403=)
c.48252T>A (p.Pro16084=)
c.43650T>A (p.Pro14550=)
c.43647T>A (p.Pro14549=)
c.40689T>A (p.Pro13563=)
c.22305T>A (p.Pro7435=)
c.43800T>A (p.Pro14600=)
c.43797T>A (p.Pro14599=)
c.43230T>A (p.Pro14410=)
c.40572T>A (p.Pro13524=)
c.40491T>A (p.Pro13497=)
c.22254T>A (p.Pro7418=)
c.12108T>A (p.Pro4036=)
2g.178613925G>ACA1994612TTN,TTN-AS1c.41654C>T (p.Pro13885Leu)
c.22739C>T (p.Pro7580Leu)
c.22538C>T (p.Pro7513Leu)
c.22163C>T (p.Pro7388Leu)
c.49358C>T (p.Pro16453Leu)
c.44435C>T (p.Pro14812Leu)
n.783-110G>A
c.48455C>T (p.Pro16152Leu)
c.22349C>T (p.Pro7450Leu)
c.22208C>T (p.Pro7403Leu)
c.48251C>T (p.Pro16084Leu)
c.43649C>T (p.Pro14550Leu)
c.43646C>T (p.Pro14549Leu)
c.40688C>T (p.Pro13563Leu)
c.22304C>T (p.Pro7435Leu)
c.43799C>T (p.Pro14600Leu)
c.43796C>T (p.Pro14599Leu)
c.43229C>T (p.Pro14410Leu)
c.40571C>T (p.Pro13524Leu)
c.40490C>T (p.Pro13497Leu)
c.22253C>T (p.Pro7418Leu)
c.12107C>T (p.Pro4036Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178613925G>CCA349604973TTN,TTN-AS1c.41654C>G (p.Pro13885Arg)
c.22739C>G (p.Pro7580Arg)
c.22538C>G (p.Pro7513Arg)
c.22163C>G (p.Pro7388Arg)
c.49358C>G (p.Pro16453Arg)
c.44435C>G (p.Pro14812Arg)
n.783-110G>C
c.48455C>G (p.Pro16152Arg)
c.22349C>G (p.Pro7450Arg)
c.22208C>G (p.Pro7403Arg)
c.48251C>G (p.Pro16084Arg)
c.43649C>G (p.Pro14550Arg)
c.43646C>G (p.Pro14549Arg)
c.40688C>G (p.Pro13563Arg)
c.22304C>G (p.Pro7435Arg)
c.43799C>G (p.Pro14600Arg)
c.43796C>G (p.Pro14599Arg)
c.43229C>G (p.Pro14410Arg)
c.40571C>G (p.Pro13524Arg)
c.40490C>G (p.Pro13497Arg)
c.22253C>G (p.Pro7418Arg)
c.12107C>G (p.Pro4036Arg)
2g.178613925G=CA1310549132TTN,TTN-AS1c.41654C= (p.Pro13885=)
c.22739C= (p.Pro7580=)
c.22538C= (p.Pro7513=)
c.22163C= (p.Pro7388=)
c.49358C= (p.Pro16453=)
c.44435C= (p.Pro14812=)
n.783-110G=
c.48455C= (p.Pro16152=)
c.22349C= (p.Pro7450=)
c.22208C= (p.Pro7403=)
c.48251C= (p.Pro16084=)
c.43649C= (p.Pro14550=)
c.43646C= (p.Pro14549=)
c.40688C= (p.Pro13563=)
c.22304C= (p.Pro7435=)
c.43799C= (p.Pro14600=)
c.43796C= (p.Pro14599=)
c.43229C= (p.Pro14410=)
c.40571C= (p.Pro13524=)
c.40490C= (p.Pro13497=)
c.22253C= (p.Pro7418=)
c.12107C= (p.Pro4036=)
2g.178613925G>TCA349604976TTN,TTN-AS1c.41654C>A (p.Pro13885His)
c.22739C>A (p.Pro7580His)
c.22538C>A (p.Pro7513His)
c.22163C>A (p.Pro7388His)
c.49358C>A (p.Pro16453His)
c.44435C>A (p.Pro14812His)
n.783-110G>T
c.48455C>A (p.Pro16152His)
c.22349C>A (p.Pro7450His)
c.22208C>A (p.Pro7403His)
c.48251C>A (p.Pro16084His)
c.43649C>A (p.Pro14550His)
c.43646C>A (p.Pro14549His)
c.40688C>A (p.Pro13563His)
c.22304C>A (p.Pro7435His)
c.43799C>A (p.Pro14600His)
c.43796C>A (p.Pro14599His)
c.43229C>A (p.Pro14410His)
c.40571C>A (p.Pro13524His)
c.40490C>A (p.Pro13497His)
c.22253C>A (p.Pro7418His)
c.12107C>A (p.Pro4036His)
2g.178613926G>ACA349604980TTN,TTN-AS1c.41653C>T (p.Pro13885Ser)
c.22738C>T (p.Pro7580Ser)
c.22537C>T (p.Pro7513Ser)
c.22162C>T (p.Pro7388Ser)
c.49357C>T (p.Pro16453Ser)
c.44434C>T (p.Pro14812Ser)
n.783-109G>A
c.48454C>T (p.Pro16152Ser)
c.22348C>T (p.Pro7450Ser)
c.22207C>T (p.Pro7403Ser)
c.48250C>T (p.Pro16084Ser)
c.43648C>T (p.Pro14550Ser)
c.43645C>T (p.Pro14549Ser)
c.40687C>T (p.Pro13563Ser)
c.22303C>T (p.Pro7435Ser)
c.43798C>T (p.Pro14600Ser)
c.43795C>T (p.Pro14599Ser)
c.43228C>T (p.Pro14410Ser)
c.40570C>T (p.Pro13524Ser)
c.40489C>T (p.Pro13497Ser)
c.22252C>T (p.Pro7418Ser)
c.12106C>T (p.Pro4036Ser)
 dbSNP
2g.178613926G>CCA349604982TTN,TTN-AS1c.41653C>G (p.Pro13885Ala)
c.22738C>G (p.Pro7580Ala)
c.22537C>G (p.Pro7513Ala)
c.22162C>G (p.Pro7388Ala)
c.49357C>G (p.Pro16453Ala)
c.44434C>G (p.Pro14812Ala)
n.783-109G>C
c.48454C>G (p.Pro16152Ala)
c.22348C>G (p.Pro7450Ala)
c.22207C>G (p.Pro7403Ala)
c.48250C>G (p.Pro16084Ala)
c.43648C>G (p.Pro14550Ala)
c.43645C>G (p.Pro14549Ala)
c.40687C>G (p.Pro13563Ala)
c.22303C>G (p.Pro7435Ala)
c.43798C>G (p.Pro14600Ala)
c.43795C>G (p.Pro14599Ala)
c.43228C>G (p.Pro14410Ala)
c.40570C>G (p.Pro13524Ala)
c.40489C>G (p.Pro13497Ala)
c.22252C>G (p.Pro7418Ala)
c.12106C>G (p.Pro4036Ala)
2g.178613926G=CA1310549133TTN,TTN-AS1c.41653C= (p.Pro13885=)
c.22738C= (p.Pro7580=)
c.22537C= (p.Pro7513=)
c.22162C= (p.Pro7388=)
c.49357C= (p.Pro16453=)
c.44434C= (p.Pro14812=)
n.783-109G=
c.48454C= (p.Pro16152=)
c.22348C= (p.Pro7450=)
c.22207C= (p.Pro7403=)
c.48250C= (p.Pro16084=)
c.43648C= (p.Pro14550=)
c.43645C= (p.Pro14549=)
c.40687C= (p.Pro13563=)
c.22303C= (p.Pro7435=)
c.43798C= (p.Pro14600=)
c.43795C= (p.Pro14599=)
c.43228C= (p.Pro14410=)
c.40570C= (p.Pro13524=)
c.40489C= (p.Pro13497=)
c.22252C= (p.Pro7418=)
c.12106C= (p.Pro4036=)
2g.178613926G>TCA1994613TTN,TTN-AS1c.41653C>A (p.Pro13885Thr)
c.22738C>A (p.Pro7580Thr)
c.22537C>A (p.Pro7513Thr)
c.22162C>A (p.Pro7388Thr)
c.49357C>A (p.Pro16453Thr)
c.44434C>A (p.Pro14812Thr)
n.783-109G>T
c.48454C>A (p.Pro16152Thr)
c.22348C>A (p.Pro7450Thr)
c.22207C>A (p.Pro7403Thr)
c.48250C>A (p.Pro16084Thr)
c.43648C>A (p.Pro14550Thr)
c.43645C>A (p.Pro14549Thr)
c.40687C>A (p.Pro13563Thr)
c.22303C>A (p.Pro7435Thr)
c.43798C>A (p.Pro14600Thr)
c.43795C>A (p.Pro14599Thr)
c.43228C>A (p.Pro14410Thr)
c.40570C>A (p.Pro13524Thr)
c.40489C>A (p.Pro13497Thr)
c.22252C>A (p.Pro7418Thr)
c.12106C>A (p.Pro4036Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178613927A>CCA430272931TTN,TTN-AS1c.41652T>G (p.Gly13884=)
c.22737T>G (p.Gly7579=)
c.22536T>G (p.Gly7512=)
c.22161T>G (p.Gly7387=)
c.49356T>G (p.Gly16452=)
c.44433T>G (p.Gly14811=)
n.783-108A>C
c.48453T>G (p.Gly16151=)
c.22347T>G (p.Gly7449=)
c.22206T>G (p.Gly7402=)
c.48249T>G (p.Gly16083=)
c.43647T>G (p.Gly14549=)
c.43644T>G (p.Gly14548=)
c.40686T>G (p.Gly13562=)
c.22302T>G (p.Gly7434=)
c.43797T>G (p.Gly14599=)
c.43794T>G (p.Gly14598=)
c.43227T>G (p.Gly14409=)
c.40569T>G (p.Gly13523=)
c.40488T>G (p.Gly13496=)
c.22251T>G (p.Gly7417=)
c.12105T>G (p.Gly4035=)
2g.178613927A>GCA430272933TTN,TTN-AS1c.41652T>C (p.Gly13884=)
c.22737T>C (p.Gly7579=)
c.22536T>C (p.Gly7512=)
c.22161T>C (p.Gly7387=)
c.49356T>C (p.Gly16452=)
c.44433T>C (p.Gly14811=)
n.783-108A>G
c.48453T>C (p.Gly16151=)
c.22347T>C (p.Gly7449=)
c.22206T>C (p.Gly7402=)
c.48249T>C (p.Gly16083=)
c.43647T>C (p.Gly14549=)
c.43644T>C (p.Gly14548=)
c.40686T>C (p.Gly13562=)
c.22302T>C (p.Gly7434=)
c.43797T>C (p.Gly14599=)
c.43794T>C (p.Gly14598=)
c.43227T>C (p.Gly14409=)
c.40569T>C (p.Gly13523=)
c.40488T>C (p.Gly13496=)
c.22251T>C (p.Gly7417=)
c.12105T>C (p.Gly4035=)
2g.178613927A>TCA430272934TTN,TTN-AS1c.41652T>A (p.Gly13884=)
c.22737T>A (p.Gly7579=)
c.22536T>A (p.Gly7512=)
c.22161T>A (p.Gly7387=)
c.49356T>A (p.Gly16452=)
c.44433T>A (p.Gly14811=)
n.783-108A>T
c.48453T>A (p.Gly16151=)
c.22347T>A (p.Gly7449=)
c.22206T>A (p.Gly7402=)
c.48249T>A (p.Gly16083=)
c.43647T>A (p.Gly14549=)
c.43644T>A (p.Gly14548=)
c.40686T>A (p.Gly13562=)
c.22302T>A (p.Gly7434=)
c.43797T>A (p.Gly14599=)
c.43794T>A (p.Gly14598=)
c.43227T>A (p.Gly14409=)
c.40569T>A (p.Gly13523=)
c.40488T>A (p.Gly13496=)
c.22251T>A (p.Gly7417=)
c.12105T>A (p.Gly4035=)
 dbSNP
2g.178613928C>ACA349604989TTN,TTN-AS1c.41651G>T (p.Gly13884Val)
c.22736G>T (p.Gly7579Val)
c.22535G>T (p.Gly7512Val)
c.22160G>T (p.Gly7387Val)
c.49355G>T (p.Gly16452Val)
c.44432G>T (p.Gly14811Val)
n.783-107C>A
c.48452G>T (p.Gly16151Val)
c.22346G>T (p.Gly7449Val)
c.22205G>T (p.Gly7402Val)
c.48248G>T (p.Gly16083Val)
c.43646G>T (p.Gly14549Val)
c.43643G>T (p.Gly14548Val)
c.40685G>T (p.Gly13562Val)
c.22301G>T (p.Gly7434Val)
c.43796G>T (p.Gly14599Val)
c.43793G>T (p.Gly14598Val)
c.43226G>T (p.Gly14409Val)
c.40568G>T (p.Gly13523Val)
c.40487G>T (p.Gly13496Val)
c.22250G>T (p.Gly7417Val)
c.12104G>T (p.Gly4035Val)
 COSMIC COSMIC COSMIC COSMIC
2g.178613928C>GCA349604990TTN,TTN-AS1c.41651G>C (p.Gly13884Ala)
c.22736G>C (p.Gly7579Ala)
c.22535G>C (p.Gly7512Ala)
c.22160G>C (p.Gly7387Ala)
c.49355G>C (p.Gly16452Ala)
c.44432G>C (p.Gly14811Ala)
n.783-107C>G
c.48452G>C (p.Gly16151Ala)
c.22346G>C (p.Gly7449Ala)
c.22205G>C (p.Gly7402Ala)
c.48248G>C (p.Gly16083Ala)
c.43646G>C (p.Gly14549Ala)
c.43643G>C (p.Gly14548Ala)
c.40685G>C (p.Gly13562Ala)
c.22301G>C (p.Gly7434Ala)
c.43796G>C (p.Gly14599Ala)
c.43793G>C (p.Gly14598Ala)
c.43226G>C (p.Gly14409Ala)
c.40568G>C (p.Gly13523Ala)
c.40487G>C (p.Gly13496Ala)
c.22250G>C (p.Gly7417Ala)
c.12104G>C (p.Gly4035Ala)
2g.178613928C>TCA349604993TTN,TTN-AS1c.41651G>A (p.Gly13884Asp)
c.22736G>A (p.Gly7579Asp)
c.22535G>A (p.Gly7512Asp)
c.22160G>A (p.Gly7387Asp)
c.49355G>A (p.Gly16452Asp)
c.44432G>A (p.Gly14811Asp)
n.783-107C>T
c.48452G>A (p.Gly16151Asp)
c.22346G>A (p.Gly7449Asp)
c.22205G>A (p.Gly7402Asp)
c.48248G>A (p.Gly16083Asp)
c.43646G>A (p.Gly14549Asp)
c.43643G>A (p.Gly14548Asp)
c.40685G>A (p.Gly13562Asp)
c.22301G>A (p.Gly7434Asp)
c.43796G>A (p.Gly14599Asp)
c.43793G>A (p.Gly14598Asp)
c.43226G>A (p.Gly14409Asp)
c.40568G>A (p.Gly13523Asp)
c.40487G>A (p.Gly13496Asp)
c.22250G>A (p.Gly7417Asp)
c.12104G>A (p.Gly4035Asp)
 gnomAD v4
2g.178613929C>ACA349604997TTN,TTN-AS1c.41650G>T (p.Gly13884Cys)
c.22735G>T (p.Gly7579Cys)
c.22534G>T (p.Gly7512Cys)
c.22159G>T (p.Gly7387Cys)
c.49354G>T (p.Gly16452Cys)
c.44431G>T (p.Gly14811Cys)
n.783-106C>A
c.48451G>T (p.Gly16151Cys)
c.22345G>T (p.Gly7449Cys)
c.22204G>T (p.Gly7402Cys)
c.48247G>T (p.Gly16083Cys)
c.43645G>T (p.Gly14549Cys)
c.43642G>T (p.Gly14548Cys)
c.40684G>T (p.Gly13562Cys)
c.22300G>T (p.Gly7434Cys)
c.43795G>T (p.Gly14599Cys)
c.43792G>T (p.Gly14598Cys)
c.43225G>T (p.Gly14409Cys)
c.40567G>T (p.Gly13523Cys)
c.40486G>T (p.Gly13496Cys)
c.22249G>T (p.Gly7417Cys)
c.12103G>T (p.Gly4035Cys)
2g.178613929C=CA1310549134TTN,TTN-AS1c.41650G= (p.Gly13884=)
c.22735G= (p.Gly7579=)
c.22534G= (p.Gly7512=)
c.22159G= (p.Gly7387=)
c.49354G= (p.Gly16452=)
c.44431G= (p.Gly14811=)
n.783-106C=
c.48451G= (p.Gly16151=)
c.22345G= (p.Gly7449=)
c.22204G= (p.Gly7402=)
c.48247G= (p.Gly16083=)
c.43645G= (p.Gly14549=)
c.43642G= (p.Gly14548=)
c.40684G= (p.Gly13562=)
c.22300G= (p.Gly7434=)
c.43795G= (p.Gly14599=)
c.43792G= (p.Gly14598=)
c.43225G= (p.Gly14409=)
c.40567G= (p.Gly13523=)
c.40486G= (p.Gly13496=)
c.22249G= (p.Gly7417=)
c.12103G= (p.Gly4035=)
2g.178613929C>GCA349605001TTN,TTN-AS1c.41650G>C (p.Gly13884Arg)
c.22735G>C (p.Gly7579Arg)
c.22534G>C (p.Gly7512Arg)
c.22159G>C (p.Gly7387Arg)
c.49354G>C (p.Gly16452Arg)
c.44431G>C (p.Gly14811Arg)
n.783-106C>G
c.48451G>C (p.Gly16151Arg)
c.22345G>C (p.Gly7449Arg)
c.22204G>C (p.Gly7402Arg)
c.48247G>C (p.Gly16083Arg)
c.43645G>C (p.Gly14549Arg)
c.43642G>C (p.Gly14548Arg)
c.40684G>C (p.Gly13562Arg)
c.22300G>C (p.Gly7434Arg)
c.43795G>C (p.Gly14599Arg)
c.43792G>C (p.Gly14598Arg)
c.43225G>C (p.Gly14409Arg)
c.40567G>C (p.Gly13523Arg)
c.40486G>C (p.Gly13496Arg)
c.22249G>C (p.Gly7417Arg)
c.12103G>C (p.Gly4035Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.178613929C>TCA349604995TTN,TTN-AS1c.41650G>A (p.Gly13884Ser)
c.22735G>A (p.Gly7579Ser)
c.22534G>A (p.Gly7512Ser)
c.22159G>A (p.Gly7387Ser)
c.49354G>A (p.Gly16452Ser)
c.44431G>A (p.Gly14811Ser)
n.783-106C>T
c.48451G>A (p.Gly16151Ser)
c.22345G>A (p.Gly7449Ser)
c.22204G>A (p.Gly7402Ser)
c.48247G>A (p.Gly16083Ser)
c.43645G>A (p.Gly14549Ser)
c.43642G>A (p.Gly14548Ser)
c.40684G>A (p.Gly13562Ser)
c.22300G>A (p.Gly7434Ser)
c.43795G>A (p.Gly14599Ser)
c.43792G>A (p.Gly14598Ser)
c.43225G>A (p.Gly14409Ser)
c.40567G>A (p.Gly13523Ser)
c.40486G>A (p.Gly13496Ser)
c.22249G>A (p.Gly7417Ser)
c.12103G>A (p.Gly4035Ser)
2g.178613930A>CCA430272937TTN,TTN-AS1c.41649T>G (p.Pro13883=)
c.22734T>G (p.Pro7578=)
c.22533T>G (p.Pro7511=)
c.22158T>G (p.Pro7386=)
c.49353T>G (p.Pro16451=)
c.44430T>G (p.Pro14810=)
n.783-105A>C
c.48450T>G (p.Pro16150=)
c.22344T>G (p.Pro7448=)
c.22203T>G (p.Pro7401=)
c.48246T>G (p.Pro16082=)
c.43644T>G (p.Pro14548=)
c.43641T>G (p.Pro14547=)
c.40683T>G (p.Pro13561=)
c.22299T>G (p.Pro7433=)
c.43794T>G (p.Pro14598=)
c.43791T>G (p.Pro14597=)
c.43224T>G (p.Pro14408=)
c.40566T>G (p.Pro13522=)
c.40485T>G (p.Pro13495=)
c.22248T>G (p.Pro7416=)
c.12102T>G (p.Pro4034=)
2g.178613930A>GCA430272935TTN,TTN-AS1c.41649T>C (p.Pro13883=)
c.22734T>C (p.Pro7578=)
c.22533T>C (p.Pro7511=)
c.22158T>C (p.Pro7386=)
c.49353T>C (p.Pro16451=)
c.44430T>C (p.Pro14810=)
n.783-105A>G
c.48450T>C (p.Pro16150=)
c.22344T>C (p.Pro7448=)
c.22203T>C (p.Pro7401=)
c.48246T>C (p.Pro16082=)
c.43644T>C (p.Pro14548=)
c.43641T>C (p.Pro14547=)
c.40683T>C (p.Pro13561=)
c.22299T>C (p.Pro7433=)
c.43794T>C (p.Pro14598=)
c.43791T>C (p.Pro14597=)
c.43224T>C (p.Pro14408=)
c.40566T>C (p.Pro13522=)
c.40485T>C (p.Pro13495=)
c.22248T>C (p.Pro7416=)
c.12102T>C (p.Pro4034=)
2g.178613930A>TCA430272936TTN,TTN-AS1c.41649T>A (p.Pro13883=)
c.22734T>A (p.Pro7578=)
c.22533T>A (p.Pro7511=)
c.22158T>A (p.Pro7386=)
c.49353T>A (p.Pro16451=)
c.44430T>A (p.Pro14810=)
n.783-105A>T
c.48450T>A (p.Pro16150=)
c.22344T>A (p.Pro7448=)
c.22203T>A (p.Pro7401=)
c.48246T>A (p.Pro16082=)
c.43644T>A (p.Pro14548=)
c.43641T>A (p.Pro14547=)
c.40683T>A (p.Pro13561=)
c.22299T>A (p.Pro7433=)
c.43794T>A (p.Pro14598=)
c.43791T>A (p.Pro14597=)
c.43224T>A (p.Pro14408=)
c.40566T>A (p.Pro13522=)
c.40485T>A (p.Pro13495=)
c.22248T>A (p.Pro7416=)
c.12102T>A (p.Pro4034=)

Number of alleles fetched