| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.34341964A>G | CA2627640129 | NOP10 | c.*30T>C (n.*30T>C) c.*4T>C (n.*4T>C) c.159+40T>C (n.159+40T>C) n.346T>C | gnomAD v4 |
| 15 | g.34341966C>G | CA268645215 | NOP10 | c.*28G>C (n.*28G>C) c.*2G>C (n.*2G>C) c.159+38G>C (n.159+38G>C) n.344G>C | dbSNP |
| 15 | g.34341967C>T | CA2532957317 | NOP10 | c.*27G>A (n.*27G>A) c.*1G>A (n.*1G>A) c.159+37G>A (n.159+37G>A) n.343G>A | dbSNP |
| 15 | g.34341968T>A | CA391621911 | NOP10 | c.*26A>T (n.*26A>T) c.198A>T (p.Ter66Cys) c.159+36A>T (n.159+36A>T) c.219A>T (p.Ter73Cys) c.129A>T (p.Ter43Cys) c.180A>T (p.Ter60Cys) n.342A>T c.195A>T (p.Ter65Cys) | |
| 15 | g.34341968T>C | CA391621912 | NOP10 | c.*26A>G (n.*26A>G) c.198A>G (p.Ter66Trp) c.159+36A>G (n.159+36A>G) c.219A>G (p.Ter73Trp) c.129A>G (p.Ter43Trp) c.180A>G (p.Ter60Trp) n.342A>G c.195A>G (p.Ter65Trp) | |
| 15 | g.34341968T>G | CA391621913 | NOP10 | c.*26A>C (n.*26A>C) c.198A>C (p.Ter66Cys) c.159+36A>C (n.159+36A>C) c.219A>C (p.Ter73Cys) c.129A>C (p.Ter43Cys) c.180A>C (p.Ter60Cys) n.342A>C c.195A>C (p.Ter65Cys) | |
| 15 | g.34341969C>A | CA391621914 | NOP10 | c.*25G>T (n.*25G>T) c.197G>T (p.Ter66Leu) c.159+35G>T (n.159+35G>T) c.218G>T (p.Ter73Leu) c.128G>T (p.Ter43Leu) c.179G>T (p.Ter60Leu) n.341G>T c.194G>T (p.Ter65Leu) | |
| 15 | g.34341969C>G | CA391621915 | NOP10 | c.*25G>C (n.*25G>C) c.197G>C (p.Ter66Ser) c.159+35G>C (n.159+35G>C) c.218G>C (p.Ter73Ser) c.128G>C (p.Ter43Ser) c.179G>C (p.Ter60Ser) n.341G>C c.194G>C (p.Ter65Ser) | |
| 15 | g.34341969C>T | CA489409918 | NOP10 | c.*25G>A (n.*25G>A) c.197G>A (p.Ter66=) c.159+35G>A (n.159+35G>A) c.218G>A (p.Ter73=) c.128G>A (p.Ter43=) c.179G>A (p.Ter60=) n.341G>A c.194G>A (p.Ter65=) | |
| 15 | g.34341970A>C | CA391621918 | NOP10 | c.*24T>G (n.*24T>G) c.196T>G (p.Ter66Gly) c.159+34T>G (n.159+34T>G) c.217T>G (p.Ter73Gly) c.127T>G (p.Ter43Gly) c.178T>G (p.Ter60Gly) n.340T>G c.193T>G (p.Ter65Gly) | |
| 15 | g.34341970A>G | CA391621916 | NOP10 | c.*24T>C (n.*24T>C) c.196T>C (p.Ter66Arg) c.159+34T>C (n.159+34T>C) c.217T>C (p.Ter73Arg) c.127T>C (p.Ter43Arg) c.178T>C (p.Ter60Arg) n.340T>C c.193T>C (p.Ter65Arg) | |
| 15 | g.34341970A>T | CA391621917 | NOP10 | c.*24T>A (n.*24T>A) c.196T>A (p.Ter66Arg) c.159+34T>A (n.159+34T>A) c.217T>A (p.Ter73Arg) c.127T>A (p.Ter43Arg) c.178T>A (p.Ter60Arg) n.340T>A c.193T>A (p.Ter65Arg) | gnomAD v4 |
| 15 | g.34341971G>A | CA489409922 | NOP10 | c.*23C>T (n.*23C>T) c.195C>T (p.Leu65=) c.159+33C>T (n.159+33C>T) c.216C>T (p.Leu72=) c.126C>T (p.Leu42=) c.177C>T (p.Leu59=) n.339C>T c.192C>T (p.Leu64=) | |
| 15 | g.34341971G>C | CA489409920 | NOP10 | c.*23C>G (n.*23C>G) c.195C>G (p.Leu65=) c.159+33C>G (n.159+33C>G) c.216C>G (p.Leu72=) c.126C>G (p.Leu42=) c.177C>G (p.Leu59=) n.339C>G c.192C>G (p.Leu64=) | dbSNP |
| 15 | g.34341971G>T | CA489409924 | NOP10 | c.*23C>A (n.*23C>A) c.195C>A (p.Leu65=) c.159+33C>A (n.159+33C>A) c.216C>A (p.Leu72=) c.126C>A (p.Leu42=) c.177C>A (p.Leu59=) n.339C>A c.192C>A (p.Leu64=) | |
| 15 | g.34341972A>C | CA391621919 | NOP10 | c.*22T>G (n.*22T>G) c.194T>G (p.Leu65Arg) c.159+32T>G (n.159+32T>G) c.215T>G (p.Leu72Arg) c.125T>G (p.Leu42Arg) c.176T>G (p.Leu59Arg) n.338T>G c.191T>G (p.Leu64Arg) | |
| 15 | g.34341972A>G | CA391621920 | NOP10 | c.*22T>C (n.*22T>C) c.194T>C (p.Leu65Pro) c.159+32T>C (n.159+32T>C) c.215T>C (p.Leu72Pro) c.125T>C (p.Leu42Pro) c.176T>C (p.Leu59Pro) n.338T>C c.191T>C (p.Leu64Pro) | |
| 15 | g.34341972A>T | CA391621921 | NOP10 | c.*22T>A (n.*22T>A) c.194T>A (p.Leu65His) c.159+32T>A (n.159+32T>A) c.215T>A (p.Leu72His) c.125T>A (p.Leu42His) c.176T>A (p.Leu59His) n.338T>A c.191T>A (p.Leu64His) | |
| 15 | g.34341973G>A | CA7464760 | NOP10 | c.*21C>T (n.*21C>T) c.193C>T (p.Leu65Phe) c.159+31C>T (n.159+31C>T) c.214C>T (p.Leu72Phe) c.124C>T (p.Leu42Phe) c.175C>T (p.Leu59Phe) n.337C>T c.190C>T (p.Leu64Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.34341973G>C | CA391621922 | NOP10 | c.*21C>G (n.*21C>G) c.193C>G (p.Leu65Val) c.159+31C>G (n.159+31C>G) c.214C>G (p.Leu72Val) c.124C>G (p.Leu42Val) c.175C>G (p.Leu59Val) n.337C>G c.190C>G (p.Leu64Val) | |
| 15 | g.34341973G>T | CA391621923 | NOP10 | c.*21C>A (n.*21C>A) c.193C>A (p.Leu65Ile) c.159+31C>A (n.159+31C>A) c.214C>A (p.Leu72Ile) c.124C>A (p.Leu42Ile) c.175C>A (p.Leu59Ile) n.337C>A c.190C>A (p.Leu64Ile) | |
| 15 | g.34341974G>A | CA489409927 | NOP10 | c.*20C>T (n.*20C>T) c.192C>T (p.Val64=) c.159+30C>T (n.159+30C>T) c.213C>T (p.Val71=) c.123C>T (p.Val41=) c.174C>T (p.Val58=) n.336C>T c.189C>T (p.Val63=) | gnomAD v4 |
| 15 | g.34341974G>C | CA489409930 | NOP10 | c.*20C>G (n.*20C>G) c.192C>G (p.Val64=) c.159+30C>G (n.159+30C>G) c.213C>G (p.Val71=) c.123C>G (p.Val41=) c.174C>G (p.Val58=) n.336C>G c.189C>G (p.Val63=) | |
| 15 | g.34341974G>T | CA489409929 | NOP10 | c.*20C>A (n.*20C>A) c.192C>A (p.Val64=) c.159+30C>A (n.159+30C>A) c.213C>A (p.Val71=) c.123C>A (p.Val41=) c.174C>A (p.Val58=) n.336C>A c.189C>A (p.Val63=) | gnomAD v4 |
| 15 | g.34341975A>C | CA391621924 | NOP10 | c.*19T>G (n.*19T>G) c.191T>G (p.Val64Gly) c.159+29T>G (n.159+29T>G) c.212T>G (p.Val71Gly) c.122T>G (p.Val41Gly) c.173T>G (p.Val58Gly) n.335T>G c.188T>G (p.Val63Gly) | |
| 15 | g.34341975A>G | CA391621925 | NOP10 | c.*19T>C (n.*19T>C) c.191T>C (p.Val64Ala) c.159+29T>C (n.159+29T>C) c.212T>C (p.Val71Ala) c.122T>C (p.Val41Ala) c.173T>C (p.Val58Ala) n.335T>C c.188T>C (p.Val63Ala) | |
| 15 | g.34341975A>T | CA391621926 | NOP10 | c.*19T>A (n.*19T>A) c.191T>A (p.Val64Asp) c.159+29T>A (n.159+29T>A) c.212T>A (p.Val71Asp) c.122T>A (p.Val41Asp) c.173T>A (p.Val58Asp) n.335T>A c.188T>A (p.Val63Asp) | |
| 15 | g.34341976C>A | CA391621927 | NOP10 | c.*18G>T (n.*18G>T) c.190G>T (p.Val64Phe) c.159+28G>T (n.159+28G>T) c.211G>T (p.Val71Phe) c.121G>T (p.Val41Phe) c.172G>T (p.Val58Phe) n.334G>T c.187G>T (p.Val63Phe) | |
| 15 | g.34341976C>G | CA391621928 | NOP10 | c.*18G>C (n.*18G>C) c.190G>C (p.Val64Leu) c.159+28G>C (n.159+28G>C) c.211G>C (p.Val71Leu) c.121G>C (p.Val41Leu) c.172G>C (p.Val58Leu) n.334G>C c.187G>C (p.Val63Leu) | |
| 15 | g.34341976C>T | CA391621929 | NOP10 | c.*18G>A (n.*18G>A) c.190G>A (p.Val64Ile) c.159+28G>A (n.159+28G>A) c.211G>A (p.Val71Ile) c.121G>A (p.Val41Ile) c.172G>A (p.Val58Ile) n.334G>A c.187G>A (p.Val63Ile) | |
| 15 | g.34341977A>C | CA489409933 | NOP10 | c.*17T>G (n.*17T>G) c.189T>G (p.Pro63=) c.159+27T>G (n.159+27T>G) c.210T>G (p.Pro70=) c.120T>G (p.Pro40=) c.171T>G (p.Pro57=) n.333T>G c.186T>G (p.Pro62=) | |
| 15 | g.34341977A>G | CA7464761 | NOP10 | c.*17T>C (n.*17T>C) c.189T>C (p.Pro63=) c.159+27T>C (n.159+27T>C) c.210T>C (p.Pro70=) c.120T>C (p.Pro40=) c.171T>C (p.Pro57=) n.333T>C c.186T>C (p.Pro62=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.34341977A>T | CA489409932 | NOP10 | c.*17T>A (n.*17T>A) c.189T>A (p.Pro63=) c.159+27T>A (n.159+27T>A) c.210T>A (p.Pro70=) c.120T>A (p.Pro40=) c.171T>A (p.Pro57=) n.333T>A c.186T>A (p.Pro62=) | gnomAD v4 |
| 15 | g.34341978G>A | CA268645224 | NOP10 | c.*16C>T (n.*16C>T) c.188C>T (p.Pro63Leu) c.159+26C>T (n.159+26C>T) c.209C>T (p.Pro70Leu) c.119C>T (p.Pro40Leu) c.170C>T (p.Pro57Leu) n.332C>T c.185C>T (p.Pro62Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.34341978G>C | CA391621930 | NOP10 | c.*16C>G (n.*16C>G) c.188C>G (p.Pro63Arg) c.159+26C>G (n.159+26C>G) c.209C>G (p.Pro70Arg) c.119C>G (p.Pro40Arg) c.170C>G (p.Pro57Arg) n.332C>G c.185C>G (p.Pro62Arg) | |
| 15 | g.34341978G>T | CA391621931 | NOP10 | c.*16C>A (n.*16C>A) c.188C>A (p.Pro63His) c.159+26C>A (n.159+26C>A) c.209C>A (p.Pro70His) c.119C>A (p.Pro40His) c.170C>A (p.Pro57His) n.332C>A c.185C>A (p.Pro62His) | |
| 15 | g.34341979G>A | CA391621932 | NOP10 | c.*15C>T (n.*15C>T) c.187C>T (p.Pro63Ser) c.159+25C>T (n.159+25C>T) c.208C>T (p.Pro70Ser) c.118C>T (p.Pro40Ser) c.169C>T (p.Pro57Ser) n.331C>T c.184C>T (p.Pro62Ser) | |
| 15 | g.34341979G>C | CA391621933 | NOP10 | c.*15C>G (n.*15C>G) c.187C>G (p.Pro63Ala) c.159+25C>G (n.159+25C>G) c.208C>G (p.Pro70Ala) c.118C>G (p.Pro40Ala) c.169C>G (p.Pro57Ala) n.331C>G c.184C>G (p.Pro62Ala) | |
| 15 | g.34341979G>T | CA391621934 | NOP10 | c.*15C>A (n.*15C>A) c.187C>A (p.Pro63Thr) c.159+25C>A (n.159+25C>A) c.208C>A (p.Pro70Thr) c.118C>A (p.Pro40Thr) c.169C>A (p.Pro57Thr) n.331C>A c.184C>A (p.Pro62Thr) | |
| 15 | g.34341980G>A | CA489409940 | NOP10 | c.*14C>T (n.*14C>T) c.186C>T (p.Arg62=) c.159+24C>T (n.159+24C>T) c.207C>T (p.Arg69=) c.117C>T (p.Arg39=) c.168C>T (p.Arg56=) n.330C>T c.183C>T (p.Arg61=) | dbSNP |
| 15 | g.34341980G>C | CA489409939 | NOP10 | c.*14C>G (n.*14C>G) c.186C>G (p.Arg62=) c.159+24C>G (n.159+24C>G) c.207C>G (p.Arg69=) c.117C>G (p.Arg39=) c.168C>G (p.Arg56=) n.330C>G c.183C>G (p.Arg61=) | |
| 15 | g.34341980G>T | CA489409938 | NOP10 | c.*14C>A (n.*14C>A) c.186C>A (p.Arg62=) c.159+24C>A (n.159+24C>A) c.207C>A (p.Arg69=) c.117C>A (p.Arg39=) c.168C>A (p.Arg56=) n.330C>A c.183C>A (p.Arg61=) | |
| 15 | g.34341981C>A | CA391621935 | NOP10 | c.*13G>T (n.*13G>T) c.185G>T (p.Arg62Leu) c.159+23G>T (n.159+23G>T) c.206G>T (p.Arg69Leu) c.116G>T (p.Arg39Leu) c.167G>T (p.Arg56Leu) n.329G>T c.182G>T (p.Arg61Leu) | gnomAD v4 |
| 15 | g.34341981C>G | CA391621936 | NOP10 | c.*13G>C (n.*13G>C) c.185G>C (p.Arg62Pro) c.159+23G>C (n.159+23G>C) c.206G>C (p.Arg69Pro) c.116G>C (p.Arg39Pro) c.167G>C (p.Arg56Pro) n.329G>C c.182G>C (p.Arg61Pro) | |
| 15 | g.34341981C>T | CA391621937 | NOP10 | c.*13G>A (n.*13G>A) c.185G>A (p.Arg62His) c.159+23G>A (n.159+23G>A) c.206G>A (p.Arg69His) c.116G>A (p.Arg39His) c.167G>A (p.Arg56His) n.329G>A c.182G>A (p.Arg61His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.34341982G>A | CA391621938 | NOP10 | c.*12C>T (n.*12C>T) c.184C>T (p.Arg62Cys) c.159+22C>T (n.159+22C>T) c.205C>T (p.Arg69Cys) c.115C>T (p.Arg39Cys) c.166C>T (p.Arg56Cys) n.328C>T c.181C>T (p.Arg61Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.34341982G>C | CA391621939 | NOP10 | c.*12C>G (n.*12C>G) c.184C>G (p.Arg62Gly) c.159+22C>G (n.159+22C>G) c.205C>G (p.Arg69Gly) c.115C>G (p.Arg39Gly) c.166C>G (p.Arg56Gly) n.328C>G c.181C>G (p.Arg61Gly) | |
| 15 | g.34341982G>T | CA391621940 | NOP10 | c.*12C>A (n.*12C>A) c.184C>A (p.Arg62Ser) c.159+22C>A (n.159+22C>A) c.205C>A (p.Arg69Ser) c.115C>A (p.Arg39Ser) c.166C>A (p.Arg56Ser) n.328C>A c.181C>A (p.Arg61Ser) | |
| 15 | g.34341983C>A | CA489409944 | NOP10 | c.*11G>T (n.*11G>T) c.183G>T (p.Pro61=) c.159+21G>T (n.159+21G>T) c.204G>T (p.Pro68=) c.114G>T (p.Pro38=) c.165G>T (p.Pro55=) n.327G>T c.180G>T (p.Pro60=) | |
| 15 | g.34341983C>G | CA489409942 | NOP10 | c.*11G>C (n.*11G>C) c.183G>C (p.Pro61=) c.159+21G>C (n.159+21G>C) c.204G>C (p.Pro68=) c.114G>C (p.Pro38=) c.165G>C (p.Pro55=) n.327G>C c.180G>C (p.Pro60=) |