| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178544400T>A | CA430241914 | TTN,TTN-AS1 | c.88125A>T (p.Gly29375=) c.69210A>T (p.Gly23070=) c.69009A>T (p.Gly23003=) c.68634A>T (p.Gly22878=) c.95829A>T (p.Gly31943=) c.90906A>T (p.Gly30302=) n.446+20764T>A n.2043+2039T>A c.94926A>T (p.Gly31642=) c.68820A>T (p.Gly22940=) c.68679A>T (p.Gly22893=) c.94722A>T (p.Gly31574=) c.90120A>T (p.Gly30040=) c.90117A>T (p.Gly30039=) c.87159A>T (p.Gly29053=) c.68775A>T (p.Gly22925=) c.90270A>T (p.Gly30090=) c.90267A>T (p.Gly30089=) c.89700A>T (p.Gly29900=) c.87042A>T (p.Gly29014=) c.86961A>T (p.Gly28987=) c.68724A>T (p.Gly22908=) c.58578A>T (p.Gly19526=) | |
| 2 | g.178544400T>C | CA1986868 | TTN,TTN-AS1 | c.88125A>G (p.Gly29375=) c.69210A>G (p.Gly23070=) c.69009A>G (p.Gly23003=) c.68634A>G (p.Gly22878=) c.95829A>G (p.Gly31943=) c.90906A>G (p.Gly30302=) n.446+20764T>C n.2043+2039T>C c.94926A>G (p.Gly31642=) c.68820A>G (p.Gly22940=) c.68679A>G (p.Gly22893=) c.94722A>G (p.Gly31574=) c.90120A>G (p.Gly30040=) c.90117A>G (p.Gly30039=) c.87159A>G (p.Gly29053=) c.68775A>G (p.Gly22925=) c.90270A>G (p.Gly30090=) c.90267A>G (p.Gly30089=) c.89700A>G (p.Gly29900=) c.87042A>G (p.Gly29014=) c.86961A>G (p.Gly28987=) c.68724A>G (p.Gly22908=) c.58578A>G (p.Gly19526=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178544400T>G | CA430241915 | TTN,TTN-AS1 | c.88125A>C (p.Gly29375=) c.69210A>C (p.Gly23070=) c.69009A>C (p.Gly23003=) c.68634A>C (p.Gly22878=) c.95829A>C (p.Gly31943=) c.90906A>C (p.Gly30302=) n.446+20764T>G n.2043+2039T>G c.94926A>C (p.Gly31642=) c.68820A>C (p.Gly22940=) c.68679A>C (p.Gly22893=) c.94722A>C (p.Gly31574=) c.90120A>C (p.Gly30040=) c.90117A>C (p.Gly30039=) c.87159A>C (p.Gly29053=) c.68775A>C (p.Gly22925=) c.90270A>C (p.Gly30090=) c.90267A>C (p.Gly30089=) c.89700A>C (p.Gly29900=) c.87042A>C (p.Gly29014=) c.86961A>C (p.Gly28987=) c.68724A>C (p.Gly22908=) c.58578A>C (p.Gly19526=) | |
| 2 | g.178544400T= | CA1310521570 | TTN,TTN-AS1 | c.88125A= (p.Gly29375=) c.69210A= (p.Gly23070=) c.69009A= (p.Gly23003=) c.68634A= (p.Gly22878=) c.95829A= (p.Gly31943=) c.90906A= (p.Gly30302=) n.446+20764T= n.2043+2039T= c.94926A= (p.Gly31642=) c.68820A= (p.Gly22940=) c.68679A= (p.Gly22893=) c.94722A= (p.Gly31574=) c.90120A= (p.Gly30040=) c.90117A= (p.Gly30039=) c.87159A= (p.Gly29053=) c.68775A= (p.Gly22925=) c.90270A= (p.Gly30090=) c.90267A= (p.Gly30089=) c.89700A= (p.Gly29900=) c.87042A= (p.Gly29014=) c.86961A= (p.Gly28987=) c.68724A= (p.Gly22908=) c.58578A= (p.Gly19526=) | |
| 2 | g.178544401C>A | CA349457109 | TTN,TTN-AS1 | c.88124G>T (p.Gly29375Val) c.69209G>T (p.Gly23070Val) c.69008G>T (p.Gly23003Val) c.68633G>T (p.Gly22878Val) c.95828G>T (p.Gly31943Val) c.90905G>T (p.Gly30302Val) n.446+20765C>A n.2043+2040C>A c.94925G>T (p.Gly31642Val) c.68819G>T (p.Gly22940Val) c.68678G>T (p.Gly22893Val) c.94721G>T (p.Gly31574Val) c.90119G>T (p.Gly30040Val) c.90116G>T (p.Gly30039Val) c.87158G>T (p.Gly29053Val) c.68774G>T (p.Gly22925Val) c.90269G>T (p.Gly30090Val) c.90266G>T (p.Gly30089Val) c.89699G>T (p.Gly29900Val) c.87041G>T (p.Gly29014Val) c.86960G>T (p.Gly28987Val) c.68723G>T (p.Gly22908Val) c.58577G>T (p.Gly19526Val) | |
| 2 | g.178544401C>G | CA349457111 | TTN,TTN-AS1 | c.88124G>C (p.Gly29375Ala) c.69209G>C (p.Gly23070Ala) c.69008G>C (p.Gly23003Ala) c.68633G>C (p.Gly22878Ala) c.95828G>C (p.Gly31943Ala) c.90905G>C (p.Gly30302Ala) n.446+20765C>G n.2043+2040C>G c.94925G>C (p.Gly31642Ala) c.68819G>C (p.Gly22940Ala) c.68678G>C (p.Gly22893Ala) c.94721G>C (p.Gly31574Ala) c.90119G>C (p.Gly30040Ala) c.90116G>C (p.Gly30039Ala) c.87158G>C (p.Gly29053Ala) c.68774G>C (p.Gly22925Ala) c.90269G>C (p.Gly30090Ala) c.90266G>C (p.Gly30089Ala) c.89699G>C (p.Gly29900Ala) c.87041G>C (p.Gly29014Ala) c.86960G>C (p.Gly28987Ala) c.68723G>C (p.Gly22908Ala) c.58577G>C (p.Gly19526Ala) | |
| 2 | g.178544401C>T | CA349457113 | TTN,TTN-AS1 | c.88124G>A (p.Gly29375Glu) c.69209G>A (p.Gly23070Glu) c.69008G>A (p.Gly23003Glu) c.68633G>A (p.Gly22878Glu) c.95828G>A (p.Gly31943Glu) c.90905G>A (p.Gly30302Glu) n.446+20765C>T n.2043+2040C>T c.94925G>A (p.Gly31642Glu) c.68819G>A (p.Gly22940Glu) c.68678G>A (p.Gly22893Glu) c.94721G>A (p.Gly31574Glu) c.90119G>A (p.Gly30040Glu) c.90116G>A (p.Gly30039Glu) c.87158G>A (p.Gly29053Glu) c.68774G>A (p.Gly22925Glu) c.90269G>A (p.Gly30090Glu) c.90266G>A (p.Gly30089Glu) c.89699G>A (p.Gly29900Glu) c.87041G>A (p.Gly29014Glu) c.86960G>A (p.Gly28987Glu) c.68723G>A (p.Gly22908Glu) c.58577G>A (p.Gly19526Glu) | |
| 2 | g.178544402C>A | CA349457116 | TTN,TTN-AS1 | c.88123G>T (p.Gly29375Ter) c.69208G>T (p.Gly23070Ter) c.69007G>T (p.Gly23003Ter) c.68632G>T (p.Gly22878Ter) c.95827G>T (p.Gly31943Ter) c.90904G>T (p.Gly30302Ter) n.446+20766C>A n.2043+2041C>A c.94924G>T (p.Gly31642Ter) c.68818G>T (p.Gly22940Ter) c.68677G>T (p.Gly22893Ter) c.94720G>T (p.Gly31574Ter) c.90118G>T (p.Gly30040Ter) c.90115G>T (p.Gly30039Ter) c.87157G>T (p.Gly29053Ter) c.68773G>T (p.Gly22925Ter) c.90268G>T (p.Gly30090Ter) c.90265G>T (p.Gly30089Ter) c.89698G>T (p.Gly29900Ter) c.87040G>T (p.Gly29014Ter) c.86959G>T (p.Gly28987Ter) c.68722G>T (p.Gly22908Ter) c.58576G>T (p.Gly19526Ter) | |
| 2 | g.178544402C>G | CA349457121 | TTN,TTN-AS1 | c.88123G>C (p.Gly29375Arg) c.69208G>C (p.Gly23070Arg) c.69007G>C (p.Gly23003Arg) c.68632G>C (p.Gly22878Arg) c.95827G>C (p.Gly31943Arg) c.90904G>C (p.Gly30302Arg) n.446+20766C>G n.2043+2041C>G c.94924G>C (p.Gly31642Arg) c.68818G>C (p.Gly22940Arg) c.68677G>C (p.Gly22893Arg) c.94720G>C (p.Gly31574Arg) c.90118G>C (p.Gly30040Arg) c.90115G>C (p.Gly30039Arg) c.87157G>C (p.Gly29053Arg) c.68773G>C (p.Gly22925Arg) c.90268G>C (p.Gly30090Arg) c.90265G>C (p.Gly30089Arg) c.89698G>C (p.Gly29900Arg) c.87040G>C (p.Gly29014Arg) c.86959G>C (p.Gly28987Arg) c.68722G>C (p.Gly22908Arg) c.58576G>C (p.Gly19526Arg) | gnomAD v4 |
| 2 | g.178544402C>T | CA349457122 | TTN,TTN-AS1 | c.88123G>A (p.Gly29375Arg) c.69208G>A (p.Gly23070Arg) c.69007G>A (p.Gly23003Arg) c.68632G>A (p.Gly22878Arg) c.95827G>A (p.Gly31943Arg) c.90904G>A (p.Gly30302Arg) n.446+20766C>T n.2043+2041C>T c.94924G>A (p.Gly31642Arg) c.68818G>A (p.Gly22940Arg) c.68677G>A (p.Gly22893Arg) c.94720G>A (p.Gly31574Arg) c.90118G>A (p.Gly30040Arg) c.90115G>A (p.Gly30039Arg) c.87157G>A (p.Gly29053Arg) c.68773G>A (p.Gly22925Arg) c.90268G>A (p.Gly30090Arg) c.90265G>A (p.Gly30089Arg) c.89698G>A (p.Gly29900Arg) c.87040G>A (p.Gly29014Arg) c.86959G>A (p.Gly28987Arg) c.68722G>A (p.Gly22908Arg) c.58576G>A (p.Gly19526Arg) | |
| 2 | g.178544403T>A | CA430241923 | TTN,TTN-AS1 | c.88122A>T (p.Val29374=) c.69207A>T (p.Val23069=) c.69006A>T (p.Val23002=) c.68631A>T (p.Val22877=) c.95826A>T (p.Val31942=) c.90903A>T (p.Val30301=) n.446+20767T>A n.2043+2042T>A c.94923A>T (p.Val31641=) c.68817A>T (p.Val22939=) c.68676A>T (p.Val22892=) c.94719A>T (p.Val31573=) c.90117A>T (p.Val30039=) c.90114A>T (p.Val30038=) c.87156A>T (p.Val29052=) c.68772A>T (p.Val22924=) c.90267A>T (p.Val30089=) c.90264A>T (p.Val30088=) c.89697A>T (p.Val29899=) c.87039A>T (p.Val29013=) c.86958A>T (p.Val28986=) c.68721A>T (p.Val22907=) c.58575A>T (p.Val19525=) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178544403T>C | CA430241926 | TTN,TTN-AS1 | c.88122A>G (p.Val29374=) c.69207A>G (p.Val23069=) c.69006A>G (p.Val23002=) c.68631A>G (p.Val22877=) c.95826A>G (p.Val31942=) c.90903A>G (p.Val30301=) n.446+20767T>C n.2043+2042T>C c.94923A>G (p.Val31641=) c.68817A>G (p.Val22939=) c.68676A>G (p.Val22892=) c.94719A>G (p.Val31573=) c.90117A>G (p.Val30039=) c.90114A>G (p.Val30038=) c.87156A>G (p.Val29052=) c.68772A>G (p.Val22924=) c.90267A>G (p.Val30089=) c.90264A>G (p.Val30088=) c.89697A>G (p.Val29899=) c.87039A>G (p.Val29013=) c.86958A>G (p.Val28986=) c.68721A>G (p.Val22907=) c.58575A>G (p.Val19525=) | |
| 2 | g.178544403T>G | CA430241925 | TTN,TTN-AS1 | c.88122A>C (p.Val29374=) c.69207A>C (p.Val23069=) c.69006A>C (p.Val23002=) c.68631A>C (p.Val22877=) c.95826A>C (p.Val31942=) c.90903A>C (p.Val30301=) n.446+20767T>G n.2043+2042T>G c.94923A>C (p.Val31641=) c.68817A>C (p.Val22939=) c.68676A>C (p.Val22892=) c.94719A>C (p.Val31573=) c.90117A>C (p.Val30039=) c.90114A>C (p.Val30038=) c.87156A>C (p.Val29052=) c.68772A>C (p.Val22924=) c.90267A>C (p.Val30089=) c.90264A>C (p.Val30088=) c.89697A>C (p.Val29899=) c.87039A>C (p.Val29013=) c.86958A>C (p.Val28986=) c.68721A>C (p.Val22907=) c.58575A>C (p.Val19525=) | |
| 2 | g.178544404A>C | CA349457123 | TTN,TTN-AS1 | c.88121T>G (p.Val29374Gly) c.69206T>G (p.Val23069Gly) c.69005T>G (p.Val23002Gly) c.68630T>G (p.Val22877Gly) c.95825T>G (p.Val31942Gly) c.90902T>G (p.Val30301Gly) n.446+20768A>C n.2043+2043A>C c.94922T>G (p.Val31641Gly) c.68816T>G (p.Val22939Gly) c.68675T>G (p.Val22892Gly) c.94718T>G (p.Val31573Gly) c.90116T>G (p.Val30039Gly) c.90113T>G (p.Val30038Gly) c.87155T>G (p.Val29052Gly) c.68771T>G (p.Val22924Gly) c.90266T>G (p.Val30089Gly) c.90263T>G (p.Val30088Gly) c.89696T>G (p.Val29899Gly) c.87038T>G (p.Val29013Gly) c.86957T>G (p.Val28986Gly) c.68720T>G (p.Val22907Gly) c.58574T>G (p.Val19525Gly) | |
| 2 | g.178544404A>G | CA349457126 | TTN,TTN-AS1 | c.88121T>C (p.Val29374Ala) c.69206T>C (p.Val23069Ala) c.69005T>C (p.Val23002Ala) c.68630T>C (p.Val22877Ala) c.95825T>C (p.Val31942Ala) c.90902T>C (p.Val30301Ala) n.446+20768A>G n.2043+2043A>G c.94922T>C (p.Val31641Ala) c.68816T>C (p.Val22939Ala) c.68675T>C (p.Val22892Ala) c.94718T>C (p.Val31573Ala) c.90116T>C (p.Val30039Ala) c.90113T>C (p.Val30038Ala) c.87155T>C (p.Val29052Ala) c.68771T>C (p.Val22924Ala) c.90266T>C (p.Val30089Ala) c.90263T>C (p.Val30088Ala) c.89696T>C (p.Val29899Ala) c.87038T>C (p.Val29013Ala) c.86957T>C (p.Val28986Ala) c.68720T>C (p.Val22907Ala) c.58574T>C (p.Val19525Ala) | |
| 2 | g.178544404A>T | CA349457124 | TTN,TTN-AS1 | c.88121T>A (p.Val29374Glu) c.69206T>A (p.Val23069Glu) c.69005T>A (p.Val23002Glu) c.68630T>A (p.Val22877Glu) c.95825T>A (p.Val31942Glu) c.90902T>A (p.Val30301Glu) n.446+20768A>T n.2043+2043A>T c.94922T>A (p.Val31641Glu) c.68816T>A (p.Val22939Glu) c.68675T>A (p.Val22892Glu) c.94718T>A (p.Val31573Glu) c.90116T>A (p.Val30039Glu) c.90113T>A (p.Val30038Glu) c.87155T>A (p.Val29052Glu) c.68771T>A (p.Val22924Glu) c.90266T>A (p.Val30089Glu) c.90263T>A (p.Val30088Glu) c.89696T>A (p.Val29899Glu) c.87038T>A (p.Val29013Glu) c.86957T>A (p.Val28986Glu) c.68720T>A (p.Val22907Glu) c.58574T>A (p.Val19525Glu) | |
| 2 | g.178544405C>A | CA349457130 | TTN,TTN-AS1 | c.88120G>T (p.Val29374Leu) c.69205G>T (p.Val23069Leu) c.69004G>T (p.Val23002Leu) c.68629G>T (p.Val22877Leu) c.95824G>T (p.Val31942Leu) c.90901G>T (p.Val30301Leu) n.446+20769C>A n.2043+2044C>A c.94921G>T (p.Val31641Leu) c.68815G>T (p.Val22939Leu) c.68674G>T (p.Val22892Leu) c.94717G>T (p.Val31573Leu) c.90115G>T (p.Val30039Leu) c.90112G>T (p.Val30038Leu) c.87154G>T (p.Val29052Leu) c.68770G>T (p.Val22924Leu) c.90265G>T (p.Val30089Leu) c.90262G>T (p.Val30088Leu) c.89695G>T (p.Val29899Leu) c.87037G>T (p.Val29013Leu) c.86956G>T (p.Val28986Leu) c.68719G>T (p.Val22907Leu) c.58573G>T (p.Val19525Leu) | |
| 2 | g.178544405C= | CA1310521572 | TTN,TTN-AS1 | c.88120G= (p.Val29374=) c.69205G= (p.Val23069=) c.69004G= (p.Val23002=) c.68629G= (p.Val22877=) c.95824G= (p.Val31942=) c.90901G= (p.Val30301=) n.446+20769C= n.2043+2044C= c.94921G= (p.Val31641=) c.68815G= (p.Val22939=) c.68674G= (p.Val22892=) c.94717G= (p.Val31573=) c.90115G= (p.Val30039=) c.90112G= (p.Val30038=) c.87154G= (p.Val29052=) c.68770G= (p.Val22924=) c.90265G= (p.Val30089=) c.90262G= (p.Val30088=) c.89695G= (p.Val29899=) c.87037G= (p.Val29013=) c.86956G= (p.Val28986=) c.68719G= (p.Val22907=) c.58573G= (p.Val19525=) | |
| 2 | g.178544405C>G | CA349457131 | TTN,TTN-AS1 | c.88120G>C (p.Val29374Leu) c.69205G>C (p.Val23069Leu) c.69004G>C (p.Val23002Leu) c.68629G>C (p.Val22877Leu) c.95824G>C (p.Val31942Leu) c.90901G>C (p.Val30301Leu) n.446+20769C>G n.2043+2044C>G c.94921G>C (p.Val31641Leu) c.68815G>C (p.Val22939Leu) c.68674G>C (p.Val22892Leu) c.94717G>C (p.Val31573Leu) c.90115G>C (p.Val30039Leu) c.90112G>C (p.Val30038Leu) c.87154G>C (p.Val29052Leu) c.68770G>C (p.Val22924Leu) c.90265G>C (p.Val30089Leu) c.90262G>C (p.Val30088Leu) c.89695G>C (p.Val29899Leu) c.87037G>C (p.Val29013Leu) c.86956G>C (p.Val28986Leu) c.68719G>C (p.Val22907Leu) c.58573G>C (p.Val19525Leu) | |
| 2 | g.178544405C>T | CA1986869 | TTN,TTN-AS1 | c.88120G>A (p.Val29374Ile) c.69205G>A (p.Val23069Ile) c.69004G>A (p.Val23002Ile) c.68629G>A (p.Val22877Ile) c.95824G>A (p.Val31942Ile) c.90901G>A (p.Val30301Ile) n.446+20769C>T n.2043+2044C>T c.94921G>A (p.Val31641Ile) c.68815G>A (p.Val22939Ile) c.68674G>A (p.Val22892Ile) c.94717G>A (p.Val31573Ile) c.90115G>A (p.Val30039Ile) c.90112G>A (p.Val30038Ile) c.87154G>A (p.Val29052Ile) c.68770G>A (p.Val22924Ile) c.90265G>A (p.Val30089Ile) c.90262G>A (p.Val30088Ile) c.89695G>A (p.Val29899Ile) c.87037G>A (p.Val29013Ile) c.86956G>A (p.Val28986Ile) c.68719G>A (p.Val22907Ile) c.58573G>A (p.Val19525Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178544406A>C | CA349457133 | TTN,TTN-AS1 | c.88119T>G (p.Ile29373Met) c.69204T>G (p.Ile23068Met) c.69003T>G (p.Ile23001Met) c.68628T>G (p.Ile22876Met) c.95823T>G (p.Ile31941Met) c.90900T>G (p.Ile30300Met) n.446+20770A>C n.2043+2045A>C c.94920T>G (p.Ile31640Met) c.68814T>G (p.Ile22938Met) c.68673T>G (p.Ile22891Met) c.94716T>G (p.Ile31572Met) c.90114T>G (p.Ile30038Met) c.90111T>G (p.Ile30037Met) c.87153T>G (p.Ile29051Met) c.68769T>G (p.Ile22923Met) c.90264T>G (p.Ile30088Met) c.90261T>G (p.Ile30087Met) c.89694T>G (p.Ile29898Met) c.87036T>G (p.Ile29012Met) c.86955T>G (p.Ile28985Met) c.68718T>G (p.Ile22906Met) c.58572T>G (p.Ile19524Met) | |
| 2 | g.178544406A>G | CA430241930 | TTN,TTN-AS1 | c.88119T>C (p.Ile29373=) c.69204T>C (p.Ile23068=) c.69003T>C (p.Ile23001=) c.68628T>C (p.Ile22876=) c.95823T>C (p.Ile31941=) c.90900T>C (p.Ile30300=) n.446+20770A>G n.2043+2045A>G c.94920T>C (p.Ile31640=) c.68814T>C (p.Ile22938=) c.68673T>C (p.Ile22891=) c.94716T>C (p.Ile31572=) c.90114T>C (p.Ile30038=) c.90111T>C (p.Ile30037=) c.87153T>C (p.Ile29051=) c.68769T>C (p.Ile22923=) c.90264T>C (p.Ile30088=) c.90261T>C (p.Ile30087=) c.89694T>C (p.Ile29898=) c.87036T>C (p.Ile29012=) c.86955T>C (p.Ile28985=) c.68718T>C (p.Ile22906=) c.58572T>C (p.Ile19524=) | |
| 2 | g.178544406A>T | CA430241931 | TTN,TTN-AS1 | c.88119T>A (p.Ile29373=) c.69204T>A (p.Ile23068=) c.69003T>A (p.Ile23001=) c.68628T>A (p.Ile22876=) c.95823T>A (p.Ile31941=) c.90900T>A (p.Ile30300=) n.446+20770A>T n.2043+2045A>T c.94920T>A (p.Ile31640=) c.68814T>A (p.Ile22938=) c.68673T>A (p.Ile22891=) c.94716T>A (p.Ile31572=) c.90114T>A (p.Ile30038=) c.90111T>A (p.Ile30037=) c.87153T>A (p.Ile29051=) c.68769T>A (p.Ile22923=) c.90264T>A (p.Ile30088=) c.90261T>A (p.Ile30087=) c.89694T>A (p.Ile29898=) c.87036T>A (p.Ile29012=) c.86955T>A (p.Ile28985=) c.68718T>A (p.Ile22906=) c.58572T>A (p.Ile19524=) | |
| 2 | g.178544407A= | CA1310521573 | TTN,TTN-AS1 | c.88118T= (p.Ile29373=) c.69203T= (p.Ile23068=) c.69002T= (p.Ile23001=) c.68627T= (p.Ile22876=) c.95822T= (p.Ile31941=) c.90899T= (p.Ile30300=) n.446+20771A= n.2043+2046A= c.94919T= (p.Ile31640=) c.68813T= (p.Ile22938=) c.68672T= (p.Ile22891=) c.94715T= (p.Ile31572=) c.90113T= (p.Ile30038=) c.90110T= (p.Ile30037=) c.87152T= (p.Ile29051=) c.68768T= (p.Ile22923=) c.90263T= (p.Ile30088=) c.90260T= (p.Ile30087=) c.89693T= (p.Ile29898=) c.87035T= (p.Ile29012=) c.86954T= (p.Ile28985=) c.68717T= (p.Ile22906=) c.58571T= (p.Ile19524=) | |
| 2 | g.178544407A>C | CA1986870 | TTN,TTN-AS1 | c.88118T>G (p.Ile29373Ser) c.69203T>G (p.Ile23068Ser) c.69002T>G (p.Ile23001Ser) c.68627T>G (p.Ile22876Ser) c.95822T>G (p.Ile31941Ser) c.90899T>G (p.Ile30300Ser) n.446+20771A>C n.2043+2046A>C c.94919T>G (p.Ile31640Ser) c.68813T>G (p.Ile22938Ser) c.68672T>G (p.Ile22891Ser) c.94715T>G (p.Ile31572Ser) c.90113T>G (p.Ile30038Ser) c.90110T>G (p.Ile30037Ser) c.87152T>G (p.Ile29051Ser) c.68768T>G (p.Ile22923Ser) c.90263T>G (p.Ile30088Ser) c.90260T>G (p.Ile30087Ser) c.89693T>G (p.Ile29898Ser) c.87035T>G (p.Ile29012Ser) c.86954T>G (p.Ile28985Ser) c.68717T>G (p.Ile22906Ser) c.58571T>G (p.Ile19524Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178544407A>G | CA349457143 | TTN,TTN-AS1 | c.88118T>C (p.Ile29373Thr) c.69203T>C (p.Ile23068Thr) c.69002T>C (p.Ile23001Thr) c.68627T>C (p.Ile22876Thr) c.95822T>C (p.Ile31941Thr) c.90899T>C (p.Ile30300Thr) n.446+20771A>G n.2043+2046A>G c.94919T>C (p.Ile31640Thr) c.68813T>C (p.Ile22938Thr) c.68672T>C (p.Ile22891Thr) c.94715T>C (p.Ile31572Thr) c.90113T>C (p.Ile30038Thr) c.90110T>C (p.Ile30037Thr) c.87152T>C (p.Ile29051Thr) c.68768T>C (p.Ile22923Thr) c.90263T>C (p.Ile30088Thr) c.90260T>C (p.Ile30087Thr) c.89693T>C (p.Ile29898Thr) c.87035T>C (p.Ile29012Thr) c.86954T>C (p.Ile28985Thr) c.68717T>C (p.Ile22906Thr) c.58571T>C (p.Ile19524Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178544407A>T | CA349457144 | TTN,TTN-AS1 | c.88118T>A (p.Ile29373Asn) c.69203T>A (p.Ile23068Asn) c.69002T>A (p.Ile23001Asn) c.68627T>A (p.Ile22876Asn) c.95822T>A (p.Ile31941Asn) c.90899T>A (p.Ile30300Asn) n.446+20771A>T n.2043+2046A>T c.94919T>A (p.Ile31640Asn) c.68813T>A (p.Ile22938Asn) c.68672T>A (p.Ile22891Asn) c.94715T>A (p.Ile31572Asn) c.90113T>A (p.Ile30038Asn) c.90110T>A (p.Ile30037Asn) c.87152T>A (p.Ile29051Asn) c.68768T>A (p.Ile22923Asn) c.90263T>A (p.Ile30088Asn) c.90260T>A (p.Ile30087Asn) c.89693T>A (p.Ile29898Asn) c.87035T>A (p.Ile29012Asn) c.86954T>A (p.Ile28985Asn) c.68717T>A (p.Ile22906Asn) c.58571T>A (p.Ile19524Asn) | |
| 2 | g.178544408T>A | CA349457145 | TTN,TTN-AS1 | c.88117A>T (p.Ile29373Phe) c.69202A>T (p.Ile23068Phe) c.69001A>T (p.Ile23001Phe) c.68626A>T (p.Ile22876Phe) c.95821A>T (p.Ile31941Phe) c.90898A>T (p.Ile30300Phe) n.446+20772T>A n.2043+2047T>A c.94918A>T (p.Ile31640Phe) c.68812A>T (p.Ile22938Phe) c.68671A>T (p.Ile22891Phe) c.94714A>T (p.Ile31572Phe) c.90112A>T (p.Ile30038Phe) c.90109A>T (p.Ile30037Phe) c.87151A>T (p.Ile29051Phe) c.68767A>T (p.Ile22923Phe) c.90262A>T (p.Ile30088Phe) c.90259A>T (p.Ile30087Phe) c.89692A>T (p.Ile29898Phe) c.87034A>T (p.Ile29012Phe) c.86953A>T (p.Ile28985Phe) c.68716A>T (p.Ile22906Phe) c.58570A>T (p.Ile19524Phe) | |
| 2 | g.178544408T>C | CA1986871 | TTN,TTN-AS1 | c.88117A>G (p.Ile29373Val) c.69202A>G (p.Ile23068Val) c.69001A>G (p.Ile23001Val) c.68626A>G (p.Ile22876Val) c.95821A>G (p.Ile31941Val) c.90898A>G (p.Ile30300Val) n.446+20772T>C n.2043+2047T>C c.94918A>G (p.Ile31640Val) c.68812A>G (p.Ile22938Val) c.68671A>G (p.Ile22891Val) c.94714A>G (p.Ile31572Val) c.90112A>G (p.Ile30038Val) c.90109A>G (p.Ile30037Val) c.87151A>G (p.Ile29051Val) c.68767A>G (p.Ile22923Val) c.90262A>G (p.Ile30088Val) c.90259A>G (p.Ile30087Val) c.89692A>G (p.Ile29898Val) c.87034A>G (p.Ile29012Val) c.86953A>G (p.Ile28985Val) c.68716A>G (p.Ile22906Val) c.58570A>G (p.Ile19524Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178544408T>G | CA349457150 | TTN,TTN-AS1 | c.88117A>C (p.Ile29373Leu) c.69202A>C (p.Ile23068Leu) c.69001A>C (p.Ile23001Leu) c.68626A>C (p.Ile22876Leu) c.95821A>C (p.Ile31941Leu) c.90898A>C (p.Ile30300Leu) n.446+20772T>G n.2043+2047T>G c.94918A>C (p.Ile31640Leu) c.68812A>C (p.Ile22938Leu) c.68671A>C (p.Ile22891Leu) c.94714A>C (p.Ile31572Leu) c.90112A>C (p.Ile30038Leu) c.90109A>C (p.Ile30037Leu) c.87151A>C (p.Ile29051Leu) c.68767A>C (p.Ile22923Leu) c.90262A>C (p.Ile30088Leu) c.90259A>C (p.Ile30087Leu) c.89692A>C (p.Ile29898Leu) c.87034A>C (p.Ile29012Leu) c.86953A>C (p.Ile28985Leu) c.68716A>C (p.Ile22906Leu) c.58570A>C (p.Ile19524Leu) | |
| 2 | g.178544408T= | CA1310521575 | TTN,TTN-AS1 | c.88117A= (p.Ile29373=) c.69202A= (p.Ile23068=) c.69001A= (p.Ile23001=) c.68626A= (p.Ile22876=) c.95821A= (p.Ile31941=) c.90898A= (p.Ile30300=) n.446+20772T= n.2043+2047T= c.94918A= (p.Ile31640=) c.68812A= (p.Ile22938=) c.68671A= (p.Ile22891=) c.94714A= (p.Ile31572=) c.90112A= (p.Ile30038=) c.90109A= (p.Ile30037=) c.87151A= (p.Ile29051=) c.68767A= (p.Ile22923=) c.90262A= (p.Ile30088=) c.90259A= (p.Ile30087=) c.89692A= (p.Ile29898=) c.87034A= (p.Ile29012=) c.86953A= (p.Ile28985=) c.68716A= (p.Ile22906=) c.58570A= (p.Ile19524=) | |
| 2 | g.178544409G>A | CA430241940 | TTN,TTN-AS1 | c.88116C>T (p.Asp29372=) c.69201C>T (p.Asp23067=) c.69000C>T (p.Asp23000=) c.68625C>T (p.Asp22875=) c.95820C>T (p.Asp31940=) c.90897C>T (p.Asp30299=) n.446+20773G>A n.2043+2048G>A c.94917C>T (p.Asp31639=) c.68811C>T (p.Asp22937=) c.68670C>T (p.Asp22890=) c.94713C>T (p.Asp31571=) c.90111C>T (p.Asp30037=) c.90108C>T (p.Asp30036=) c.87150C>T (p.Asp29050=) c.68766C>T (p.Asp22922=) c.90261C>T (p.Asp30087=) c.90258C>T (p.Asp30086=) c.89691C>T (p.Asp29897=) c.87033C>T (p.Asp29011=) c.86952C>T (p.Asp28984=) c.68715C>T (p.Asp22905=) c.58569C>T (p.Asp19523=) | |
| 2 | g.178544409G>C | CA349457153 | TTN,TTN-AS1 | c.88116C>G (p.Asp29372Glu) c.69201C>G (p.Asp23067Glu) c.69000C>G (p.Asp23000Glu) c.68625C>G (p.Asp22875Glu) c.95820C>G (p.Asp31940Glu) c.90897C>G (p.Asp30299Glu) n.446+20773G>C n.2043+2048G>C c.94917C>G (p.Asp31639Glu) c.68811C>G (p.Asp22937Glu) c.68670C>G (p.Asp22890Glu) c.94713C>G (p.Asp31571Glu) c.90111C>G (p.Asp30037Glu) c.90108C>G (p.Asp30036Glu) c.87150C>G (p.Asp29050Glu) c.68766C>G (p.Asp22922Glu) c.90261C>G (p.Asp30087Glu) c.90258C>G (p.Asp30086Glu) c.89691C>G (p.Asp29897Glu) c.87033C>G (p.Asp29011Glu) c.86952C>G (p.Asp28984Glu) c.68715C>G (p.Asp22905Glu) c.58569C>G (p.Asp19523Glu) | |
| 2 | g.178544409G>T | CA349457167 | TTN,TTN-AS1 | c.88116C>A (p.Asp29372Glu) c.69201C>A (p.Asp23067Glu) c.69000C>A (p.Asp23000Glu) c.68625C>A (p.Asp22875Glu) c.95820C>A (p.Asp31940Glu) c.90897C>A (p.Asp30299Glu) n.446+20773G>T n.2043+2048G>T c.94917C>A (p.Asp31639Glu) c.68811C>A (p.Asp22937Glu) c.68670C>A (p.Asp22890Glu) c.94713C>A (p.Asp31571Glu) c.90111C>A (p.Asp30037Glu) c.90108C>A (p.Asp30036Glu) c.87150C>A (p.Asp29050Glu) c.68766C>A (p.Asp22922Glu) c.90261C>A (p.Asp30087Glu) c.90258C>A (p.Asp30086Glu) c.89691C>A (p.Asp29897Glu) c.87033C>A (p.Asp29011Glu) c.86952C>A (p.Asp28984Glu) c.68715C>A (p.Asp22905Glu) c.58569C>A (p.Asp19523Glu) | |
| 2 | g.178544410T>A | CA349457177 | TTN,TTN-AS1 | c.88115A>T (p.Asp29372Val) c.69200A>T (p.Asp23067Val) c.68999A>T (p.Asp23000Val) c.68624A>T (p.Asp22875Val) c.95819A>T (p.Asp31940Val) c.90896A>T (p.Asp30299Val) n.446+20774T>A n.2043+2049T>A c.94916A>T (p.Asp31639Val) c.68810A>T (p.Asp22937Val) c.68669A>T (p.Asp22890Val) c.94712A>T (p.Asp31571Val) c.90110A>T (p.Asp30037Val) c.90107A>T (p.Asp30036Val) c.87149A>T (p.Asp29050Val) c.68765A>T (p.Asp22922Val) c.90260A>T (p.Asp30087Val) c.90257A>T (p.Asp30086Val) c.89690A>T (p.Asp29897Val) c.87032A>T (p.Asp29011Val) c.86951A>T (p.Asp28984Val) c.68714A>T (p.Asp22905Val) c.58568A>T (p.Asp19523Val) | gnomAD v4 |
| 2 | g.178544410T>C | CA349457170 | TTN,TTN-AS1 | c.88115A>G (p.Asp29372Gly) c.69200A>G (p.Asp23067Gly) c.68999A>G (p.Asp23000Gly) c.68624A>G (p.Asp22875Gly) c.95819A>G (p.Asp31940Gly) c.90896A>G (p.Asp30299Gly) n.446+20774T>C n.2043+2049T>C c.94916A>G (p.Asp31639Gly) c.68810A>G (p.Asp22937Gly) c.68669A>G (p.Asp22890Gly) c.94712A>G (p.Asp31571Gly) c.90110A>G (p.Asp30037Gly) c.90107A>G (p.Asp30036Gly) c.87149A>G (p.Asp29050Gly) c.68765A>G (p.Asp22922Gly) c.90260A>G (p.Asp30087Gly) c.90257A>G (p.Asp30086Gly) c.89690A>G (p.Asp29897Gly) c.87032A>G (p.Asp29011Gly) c.86951A>G (p.Asp28984Gly) c.68714A>G (p.Asp22905Gly) c.58568A>G (p.Asp19523Gly) | |
| 2 | g.178544410T>G | CA349457172 | TTN,TTN-AS1 | c.88115A>C (p.Asp29372Ala) c.69200A>C (p.Asp23067Ala) c.68999A>C (p.Asp23000Ala) c.68624A>C (p.Asp22875Ala) c.95819A>C (p.Asp31940Ala) c.90896A>C (p.Asp30299Ala) n.446+20774T>G n.2043+2049T>G c.94916A>C (p.Asp31639Ala) c.68810A>C (p.Asp22937Ala) c.68669A>C (p.Asp22890Ala) c.94712A>C (p.Asp31571Ala) c.90110A>C (p.Asp30037Ala) c.90107A>C (p.Asp30036Ala) c.87149A>C (p.Asp29050Ala) c.68765A>C (p.Asp22922Ala) c.90260A>C (p.Asp30087Ala) c.90257A>C (p.Asp30086Ala) c.89690A>C (p.Asp29897Ala) c.87032A>C (p.Asp29011Ala) c.86951A>C (p.Asp28984Ala) c.68714A>C (p.Asp22905Ala) c.58568A>C (p.Asp19523Ala) | |
| 2 | g.178544411C>A | CA349457188 | TTN,TTN-AS1 | c.88114G>T (p.Asp29372Tyr) c.69199G>T (p.Asp23067Tyr) c.68998G>T (p.Asp23000Tyr) c.68623G>T (p.Asp22875Tyr) c.95818G>T (p.Asp31940Tyr) c.90895G>T (p.Asp30299Tyr) n.446+20775C>A n.2043+2050C>A c.94915G>T (p.Asp31639Tyr) c.68809G>T (p.Asp22937Tyr) c.68668G>T (p.Asp22890Tyr) c.94711G>T (p.Asp31571Tyr) c.90109G>T (p.Asp30037Tyr) c.90106G>T (p.Asp30036Tyr) c.87148G>T (p.Asp29050Tyr) c.68764G>T (p.Asp22922Tyr) c.90259G>T (p.Asp30087Tyr) c.90256G>T (p.Asp30086Tyr) c.89689G>T (p.Asp29897Tyr) c.87031G>T (p.Asp29011Tyr) c.86950G>T (p.Asp28984Tyr) c.68713G>T (p.Asp22905Tyr) c.58567G>T (p.Asp19523Tyr) | |
| 2 | g.178544411C= | CA1310521577 | TTN,TTN-AS1 | c.88114G= (p.Asp29372=) c.69199G= (p.Asp23067=) c.68998G= (p.Asp23000=) c.68623G= (p.Asp22875=) c.95818G= (p.Asp31940=) c.90895G= (p.Asp30299=) n.446+20775C= n.2043+2050C= c.94915G= (p.Asp31639=) c.68809G= (p.Asp22937=) c.68668G= (p.Asp22890=) c.94711G= (p.Asp31571=) c.90109G= (p.Asp30037=) c.90106G= (p.Asp30036=) c.87148G= (p.Asp29050=) c.68764G= (p.Asp22922=) c.90259G= (p.Asp30087=) c.90256G= (p.Asp30086=) c.89689G= (p.Asp29897=) c.87031G= (p.Asp29011=) c.86950G= (p.Asp28984=) c.68713G= (p.Asp22905=) c.58567G= (p.Asp19523=) | |
| 2 | g.178544411C>G | CA349457190 | TTN,TTN-AS1 | c.88114G>C (p.Asp29372His) c.69199G>C (p.Asp23067His) c.68998G>C (p.Asp23000His) c.68623G>C (p.Asp22875His) c.95818G>C (p.Asp31940His) c.90895G>C (p.Asp30299His) n.446+20775C>G n.2043+2050C>G c.94915G>C (p.Asp31639His) c.68809G>C (p.Asp22937His) c.68668G>C (p.Asp22890His) c.94711G>C (p.Asp31571His) c.90109G>C (p.Asp30037His) c.90106G>C (p.Asp30036His) c.87148G>C (p.Asp29050His) c.68764G>C (p.Asp22922His) c.90259G>C (p.Asp30087His) c.90256G>C (p.Asp30086His) c.89689G>C (p.Asp29897His) c.87031G>C (p.Asp29011His) c.86950G>C (p.Asp28984His) c.68713G>C (p.Asp22905His) c.58567G>C (p.Asp19523His) | gnomAD v4 |
| 2 | g.178544411C>T | CA1986872 | TTN,TTN-AS1 | c.88114G>A (p.Asp29372Asn) c.69199G>A (p.Asp23067Asn) c.68998G>A (p.Asp23000Asn) c.68623G>A (p.Asp22875Asn) c.95818G>A (p.Asp31940Asn) c.90895G>A (p.Asp30299Asn) n.446+20775C>T n.2043+2050C>T c.94915G>A (p.Asp31639Asn) c.68809G>A (p.Asp22937Asn) c.68668G>A (p.Asp22890Asn) c.94711G>A (p.Asp31571Asn) c.90109G>A (p.Asp30037Asn) c.90106G>A (p.Asp30036Asn) c.87148G>A (p.Asp29050Asn) c.68764G>A (p.Asp22922Asn) c.90259G>A (p.Asp30087Asn) c.90256G>A (p.Asp30086Asn) c.89689G>A (p.Asp29897Asn) c.87031G>A (p.Asp29011Asn) c.86950G>A (p.Asp28984Asn) c.68713G>A (p.Asp22905Asn) c.58567G>A (p.Asp19523Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178544412A>C | CA430241943 | TTN,TTN-AS1 | c.88113T>G (p.Thr29371=) c.69198T>G (p.Thr23066=) c.68997T>G (p.Thr22999=) c.68622T>G (p.Thr22874=) c.95817T>G (p.Thr31939=) c.90894T>G (p.Thr30298=) n.446+20776A>C n.2043+2051A>C c.94914T>G (p.Thr31638=) c.68808T>G (p.Thr22936=) c.68667T>G (p.Thr22889=) c.94710T>G (p.Thr31570=) c.90108T>G (p.Thr30036=) c.90105T>G (p.Thr30035=) c.87147T>G (p.Thr29049=) c.68763T>G (p.Thr22921=) c.90258T>G (p.Thr30086=) c.90255T>G (p.Thr30085=) c.89688T>G (p.Thr29896=) c.87030T>G (p.Thr29010=) c.86949T>G (p.Thr28983=) c.68712T>G (p.Thr22904=) c.58566T>G (p.Thr19522=) | |
| 2 | g.178544412A>G | CA430241945 | TTN,TTN-AS1 | c.88113T>C (p.Thr29371=) c.69198T>C (p.Thr23066=) c.68997T>C (p.Thr22999=) c.68622T>C (p.Thr22874=) c.95817T>C (p.Thr31939=) c.90894T>C (p.Thr30298=) n.446+20776A>G n.2043+2051A>G c.94914T>C (p.Thr31638=) c.68808T>C (p.Thr22936=) c.68667T>C (p.Thr22889=) c.94710T>C (p.Thr31570=) c.90108T>C (p.Thr30036=) c.90105T>C (p.Thr30035=) c.87147T>C (p.Thr29049=) c.68763T>C (p.Thr22921=) c.90258T>C (p.Thr30086=) c.90255T>C (p.Thr30085=) c.89688T>C (p.Thr29896=) c.87030T>C (p.Thr29010=) c.86949T>C (p.Thr28983=) c.68712T>C (p.Thr22904=) c.58566T>C (p.Thr19522=) | |
| 2 | g.178544412A>T | CA430241946 | TTN,TTN-AS1 | c.88113T>A (p.Thr29371=) c.69198T>A (p.Thr23066=) c.68997T>A (p.Thr22999=) c.68622T>A (p.Thr22874=) c.95817T>A (p.Thr31939=) c.90894T>A (p.Thr30298=) n.446+20776A>T n.2043+2051A>T c.94914T>A (p.Thr31638=) c.68808T>A (p.Thr22936=) c.68667T>A (p.Thr22889=) c.94710T>A (p.Thr31570=) c.90108T>A (p.Thr30036=) c.90105T>A (p.Thr30035=) c.87147T>A (p.Thr29049=) c.68763T>A (p.Thr22921=) c.90258T>A (p.Thr30086=) c.90255T>A (p.Thr30085=) c.89688T>A (p.Thr29896=) c.87030T>A (p.Thr29010=) c.86949T>A (p.Thr28983=) c.68712T>A (p.Thr22904=) c.58566T>A (p.Thr19522=) | |
| 2 | g.178544413G>A | CA349457211 | TTN,TTN-AS1 | c.88112C>T (p.Thr29371Ile) c.69197C>T (p.Thr23066Ile) c.68996C>T (p.Thr22999Ile) c.68621C>T (p.Thr22874Ile) c.95816C>T (p.Thr31939Ile) c.90893C>T (p.Thr30298Ile) n.446+20777G>A n.2043+2052G>A c.94913C>T (p.Thr31638Ile) c.68807C>T (p.Thr22936Ile) c.68666C>T (p.Thr22889Ile) c.94709C>T (p.Thr31570Ile) c.90107C>T (p.Thr30036Ile) c.90104C>T (p.Thr30035Ile) c.87146C>T (p.Thr29049Ile) c.68762C>T (p.Thr22921Ile) c.90257C>T (p.Thr30086Ile) c.90254C>T (p.Thr30085Ile) c.89687C>T (p.Thr29896Ile) c.87029C>T (p.Thr29010Ile) c.86948C>T (p.Thr28983Ile) c.68711C>T (p.Thr22904Ile) c.58565C>T (p.Thr19522Ile) | gnomAD v4 |
| 2 | g.178544413G>C | CA349457233 | TTN,TTN-AS1 | c.88112C>G (p.Thr29371Ser) c.69197C>G (p.Thr23066Ser) c.68996C>G (p.Thr22999Ser) c.68621C>G (p.Thr22874Ser) c.95816C>G (p.Thr31939Ser) c.90893C>G (p.Thr30298Ser) n.446+20777G>C n.2043+2052G>C c.94913C>G (p.Thr31638Ser) c.68807C>G (p.Thr22936Ser) c.68666C>G (p.Thr22889Ser) c.94709C>G (p.Thr31570Ser) c.90107C>G (p.Thr30036Ser) c.90104C>G (p.Thr30035Ser) c.87146C>G (p.Thr29049Ser) c.68762C>G (p.Thr22921Ser) c.90257C>G (p.Thr30086Ser) c.90254C>G (p.Thr30085Ser) c.89687C>G (p.Thr29896Ser) c.87029C>G (p.Thr29010Ser) c.86948C>G (p.Thr28983Ser) c.68711C>G (p.Thr22904Ser) c.58565C>G (p.Thr19522Ser) | |
| 2 | g.178544413G>T | CA349457251 | TTN,TTN-AS1 | c.88112C>A (p.Thr29371Asn) c.69197C>A (p.Thr23066Asn) c.68996C>A (p.Thr22999Asn) c.68621C>A (p.Thr22874Asn) c.95816C>A (p.Thr31939Asn) c.90893C>A (p.Thr30298Asn) n.446+20777G>T n.2043+2052G>T c.94913C>A (p.Thr31638Asn) c.68807C>A (p.Thr22936Asn) c.68666C>A (p.Thr22889Asn) c.94709C>A (p.Thr31570Asn) c.90107C>A (p.Thr30036Asn) c.90104C>A (p.Thr30035Asn) c.87146C>A (p.Thr29049Asn) c.68762C>A (p.Thr22921Asn) c.90257C>A (p.Thr30086Asn) c.90254C>A (p.Thr30085Asn) c.89687C>A (p.Thr29896Asn) c.87029C>A (p.Thr29010Asn) c.86948C>A (p.Thr28983Asn) c.68711C>A (p.Thr22904Asn) c.58565C>A (p.Thr19522Asn) | |
| 2 | g.178544414T>A | CA349457254 | TTN,TTN-AS1 | c.88111A>T (p.Thr29371Ser) c.69196A>T (p.Thr23066Ser) c.68995A>T (p.Thr22999Ser) c.68620A>T (p.Thr22874Ser) c.95815A>T (p.Thr31939Ser) c.90892A>T (p.Thr30298Ser) n.446+20778T>A n.2043+2053T>A c.94912A>T (p.Thr31638Ser) c.68806A>T (p.Thr22936Ser) c.68665A>T (p.Thr22889Ser) c.94708A>T (p.Thr31570Ser) c.90106A>T (p.Thr30036Ser) c.90103A>T (p.Thr30035Ser) c.87145A>T (p.Thr29049Ser) c.68761A>T (p.Thr22921Ser) c.90256A>T (p.Thr30086Ser) c.90253A>T (p.Thr30085Ser) c.89686A>T (p.Thr29896Ser) c.87028A>T (p.Thr29010Ser) c.86947A>T (p.Thr28983Ser) c.68710A>T (p.Thr22904Ser) c.58564A>T (p.Thr19522Ser) | |
| 2 | g.178544414T>C | CA1986873 | TTN,TTN-AS1 | c.88111A>G (p.Thr29371Ala) c.69196A>G (p.Thr23066Ala) c.68995A>G (p.Thr22999Ala) c.68620A>G (p.Thr22874Ala) c.95815A>G (p.Thr31939Ala) c.90892A>G (p.Thr30298Ala) n.446+20778T>C n.2043+2053T>C c.94912A>G (p.Thr31638Ala) c.68806A>G (p.Thr22936Ala) c.68665A>G (p.Thr22889Ala) c.94708A>G (p.Thr31570Ala) c.90106A>G (p.Thr30036Ala) c.90103A>G (p.Thr30035Ala) c.87145A>G (p.Thr29049Ala) c.68761A>G (p.Thr22921Ala) c.90256A>G (p.Thr30086Ala) c.90253A>G (p.Thr30085Ala) c.89686A>G (p.Thr29896Ala) c.87028A>G (p.Thr29010Ala) c.86947A>G (p.Thr28983Ala) c.68710A>G (p.Thr22904Ala) c.58564A>G (p.Thr19522Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178544414T>G | CA349457260 | TTN,TTN-AS1 | c.88111A>C (p.Thr29371Pro) c.69196A>C (p.Thr23066Pro) c.68995A>C (p.Thr22999Pro) c.68620A>C (p.Thr22874Pro) c.95815A>C (p.Thr31939Pro) c.90892A>C (p.Thr30298Pro) n.446+20778T>G n.2043+2053T>G c.94912A>C (p.Thr31638Pro) c.68806A>C (p.Thr22936Pro) c.68665A>C (p.Thr22889Pro) c.94708A>C (p.Thr31570Pro) c.90106A>C (p.Thr30036Pro) c.90103A>C (p.Thr30035Pro) c.87145A>C (p.Thr29049Pro) c.68761A>C (p.Thr22921Pro) c.90256A>C (p.Thr30086Pro) c.90253A>C (p.Thr30085Pro) c.89686A>C (p.Thr29896Pro) c.87028A>C (p.Thr29010Pro) c.86947A>C (p.Thr28983Pro) c.68710A>C (p.Thr22904Pro) c.58564A>C (p.Thr19522Pro) |