Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
15 | g.34341983C>T | CA489409943 | NOP10 | c.*11G>A (n.*11G>A) c.183G>A (p.Pro61=) c.159+21G>A (n.159+21G>A) c.204G>A (p.Pro68=) c.114G>A (p.Pro38=) c.165G>A (p.Pro55=) n.327G>A c.180G>A (p.Pro60=) | gnomAD v4 COSMIC |
15 | g.34341984G>A | CA7464762 | NOP10 | c.*10C>T (n.*10C>T) c.182C>T (p.Pro61Leu) c.159+20C>T (n.159+20C>T) c.203C>T (p.Pro68Leu) c.113C>T (p.Pro38Leu) c.164C>T (p.Pro55Leu) n.326C>T c.179C>T (p.Pro60Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.34341984G>C | CA391621941 | NOP10 | c.*10C>G (n.*10C>G) c.182C>G (p.Pro61Arg) c.159+20C>G (n.159+20C>G) c.203C>G (p.Pro68Arg) c.113C>G (p.Pro38Arg) c.164C>G (p.Pro55Arg) n.326C>G c.179C>G (p.Pro60Arg) | |
15 | g.34341984G>T | CA391621942 | NOP10 | c.*10C>A (n.*10C>A) c.182C>A (p.Pro61Gln) c.159+20C>A (n.159+20C>A) c.203C>A (p.Pro68Gln) c.113C>A (p.Pro38Gln) c.164C>A (p.Pro55Gln) n.326C>A c.179C>A (p.Pro60Gln) | |
15 | g.34341985G>A | CA391621943 | NOP10 | c.*9C>T (n.*9C>T) c.181C>T (p.Pro61Ser) c.159+19C>T (n.159+19C>T) c.202C>T (p.Pro68Ser) c.112C>T (p.Pro38Ser) c.163C>T (p.Pro55Ser) n.325C>T c.178C>T (p.Pro60Ser) | |
15 | g.34341985G>C | CA391621945 | NOP10 | c.*9C>G (n.*9C>G) c.181C>G (p.Pro61Ala) c.159+19C>G (n.159+19C>G) c.202C>G (p.Pro68Ala) c.112C>G (p.Pro38Ala) c.163C>G (p.Pro55Ala) n.325C>G c.178C>G (p.Pro60Ala) | |
15 | g.34341985G>T | CA391621944 | NOP10 | c.*9C>A (n.*9C>A) c.181C>A (p.Pro61Thr) c.159+19C>A (n.159+19C>A) c.202C>A (p.Pro68Thr) c.112C>A (p.Pro38Thr) c.163C>A (p.Pro55Thr) n.325C>A c.178C>A (p.Pro60Thr) | |
15 | g.34341986T>A | CA391621946 | NOP10 | c.*8A>T (n.*8A>T) c.180A>T (p.Gln60His) c.159+18A>T (n.159+18A>T) c.201A>T (p.Gln67His) c.111A>T (p.Gln37His) c.162A>T (p.Gln54His) n.324A>T c.177A>T (p.Gln59His) | |
15 | g.34341986T>C | CA489409945 | NOP10 | c.*8A>G (n.*8A>G) c.180A>G (p.Gln60=) c.159+18A>G (n.159+18A>G) c.201A>G (p.Gln67=) c.111A>G (p.Gln37=) c.162A>G (p.Gln54=) n.324A>G c.177A>G (p.Gln59=) | |
15 | g.34341986T>G | CA391621947 | NOP10 | c.*8A>C (n.*8A>C) c.180A>C (p.Gln60His) c.159+18A>C (n.159+18A>C) c.201A>C (p.Gln67His) c.111A>C (p.Gln37His) c.162A>C (p.Gln54His) n.324A>C c.177A>C (p.Gln59His) | |
15 | g.34341987T>A | CA391621948 | NOP10 | c.*7A>T (n.*7A>T) c.179A>T (p.Gln60Leu) c.159+17A>T (n.159+17A>T) c.200A>T (p.Gln67Leu) c.110A>T (p.Gln37Leu) c.161A>T (p.Gln54Leu) n.323A>T c.176A>T (p.Gln59Leu) | |
15 | g.34341987T>C | CA391621949 | NOP10 | c.*7A>G (n.*7A>G) c.179A>G (p.Gln60Arg) c.159+17A>G (n.159+17A>G) c.200A>G (p.Gln67Arg) c.110A>G (p.Gln37Arg) c.161A>G (p.Gln54Arg) n.323A>G c.176A>G (p.Gln59Arg) | |
15 | g.34341987T>G | CA391621950 | NOP10 | c.*7A>C (n.*7A>C) c.179A>C (p.Gln60Pro) c.159+17A>C (n.159+17A>C) c.200A>C (p.Gln67Pro) c.110A>C (p.Gln37Pro) c.161A>C (p.Gln54Pro) n.323A>C c.176A>C (p.Gln59Pro) | |
15 | g.34341988G>A | CA391621951 | NOP10 | c.*6C>T (n.*6C>T) c.178C>T (p.Gln60Ter) c.159+16C>T (n.159+16C>T) c.199C>T (p.Gln67Ter) c.109C>T (p.Gln37Ter) c.160C>T (p.Gln54Ter) n.322C>T c.175C>T (p.Gln59Ter) | dbSNP |
15 | g.34341988G>C | CA391621952 | NOP10 | c.*6C>G (n.*6C>G) c.178C>G (p.Gln60Glu) c.159+16C>G (n.159+16C>G) c.199C>G (p.Gln67Glu) c.109C>G (p.Gln37Glu) c.160C>G (p.Gln54Glu) n.322C>G c.175C>G (p.Gln59Glu) | |
15 | g.34341988G>T | CA7464763 | NOP10 | c.*6C>A (n.*6C>A) c.178C>A (p.Gln60Lys) c.159+16C>A (n.159+16C>A) c.199C>A (p.Gln67Lys) c.109C>A (p.Gln37Lys) c.160C>A (p.Gln54Lys) n.322C>A c.175C>A (p.Gln59Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.34341989C>A | CA391621953 | NOP10 | c.*5G>T (n.*5G>T) c.177G>T (p.Gln59His) c.159+15G>T (n.159+15G>T) c.198G>T (p.Gln66His) c.108G>T (p.Gln36His) c.159G>T (p.Gln53His) n.321G>T c.174G>T (p.Gln58His) | |
15 | g.34341989C>G | CA391621954 | NOP10 | c.*5G>C (n.*5G>C) c.177G>C (p.Gln59His) c.159+15G>C (n.159+15G>C) c.198G>C (p.Gln66His) c.108G>C (p.Gln36His) c.159G>C (p.Gln53His) n.321G>C c.174G>C (p.Gln58His) | |
15 | g.34341989C>T | CA489409951 | NOP10 | c.*5G>A (n.*5G>A) c.177G>A (p.Gln59=) c.159+15G>A (n.159+15G>A) c.198G>A (p.Gln66=) c.108G>A (p.Gln36=) c.159G>A (p.Gln53=) n.321G>A c.174G>A (p.Gln58=) | |
15 | g.34341990T>A | CA391621955 | NOP10 | c.*4A>T (n.*4A>T) c.176A>T (p.Gln59Leu) c.159+14A>T (n.159+14A>T) c.197A>T (p.Gln66Leu) c.107A>T (p.Gln36Leu) c.158A>T (p.Gln53Leu) n.320A>T c.173A>T (p.Gln58Leu) | |
15 | g.34341990T>C | CA391621956 | NOP10 | c.*4A>G (n.*4A>G) c.176A>G (p.Gln59Arg) c.159+14A>G (n.159+14A>G) c.197A>G (p.Gln66Arg) c.107A>G (p.Gln36Arg) c.158A>G (p.Gln53Arg) n.320A>G c.173A>G (p.Gln58Arg) | ClinVar gnomAD v4 |
15 | g.34341990T>G | CA391621957 | NOP10 | c.*4A>C (n.*4A>C) c.176A>C (p.Gln59Pro) c.159+14A>C (n.159+14A>C) c.197A>C (p.Gln66Pro) c.107A>C (p.Gln36Pro) c.158A>C (p.Gln53Pro) n.320A>C c.173A>C (p.Gln58Pro) | |
15 | g.34341991G>A | CA391621960 | NOP10 | c.*3C>T (n.*3C>T) c.175C>T (p.Gln59Ter) c.159+13C>T (n.159+13C>T) c.196C>T (p.Gln66Ter) c.106C>T (p.Gln36Ter) c.157C>T (p.Gln53Ter) n.319C>T c.172C>T (p.Gln58Ter) | dbSNP gnomAD v4 |
15 | g.34341991G>C | CA391621959 | NOP10 | c.*3C>G (n.*3C>G) c.175C>G (p.Gln59Glu) c.159+13C>G (n.159+13C>G) c.196C>G (p.Gln66Glu) c.106C>G (p.Gln36Glu) c.157C>G (p.Gln53Glu) n.319C>G c.172C>G (p.Gln58Glu) | |
15 | g.34341991G>T | CA391621958 | NOP10 | c.*3C>A (n.*3C>A) c.175C>A (p.Gln59Lys) c.159+13C>A (n.159+13C>A) c.196C>A (p.Gln66Lys) c.106C>A (p.Gln36Lys) c.157C>A (p.Gln53Lys) n.319C>A c.172C>A (p.Gln58Lys) | |
15 | g.34341992G>A | CA489409961 | NOP10 | c.*2C>T (n.*2C>T) c.174C>T (p.Thr58=) c.159+12C>T (n.159+12C>T) c.195C>T (p.Thr65=) c.105C>T (p.Thr35=) c.156C>T (p.Thr52=) n.318C>T c.171C>T (p.Thr57=) | |
15 | g.34341992G>C | CA489409960 | NOP10 | c.*2C>G (n.*2C>G) c.174C>G (p.Thr58=) c.159+12C>G (n.159+12C>G) c.195C>G (p.Thr65=) c.105C>G (p.Thr35=) c.156C>G (p.Thr52=) n.318C>G c.171C>G (p.Thr57=) | |
15 | g.34341992G>T | CA489409959 | NOP10 | c.*2C>A (n.*2C>A) c.174C>A (p.Thr58=) c.159+12C>A (n.159+12C>A) c.195C>A (p.Thr65=) c.105C>A (p.Thr35=) c.156C>A (p.Thr52=) n.318C>A c.171C>A (p.Thr57=) | gnomAD v4 |
15 | g.34341993G>A | CA391621961 | NOP10 | c.*1C>T (n.*1C>T) c.173C>T (p.Thr58Ile) c.159+11C>T (n.159+11C>T) c.194C>T (p.Thr65Ile) c.104C>T (p.Thr35Ile) c.155C>T (p.Thr52Ile) n.317C>T c.170C>T (p.Thr57Ile) | gnomAD v4 |
15 | g.34341993G>C | CA391621962 | NOP10 | c.*1C>G (n.*1C>G) c.173C>G (p.Thr58Ser) c.159+11C>G (n.159+11C>G) c.194C>G (p.Thr65Ser) c.104C>G (p.Thr35Ser) c.155C>G (p.Thr52Ser) n.317C>G c.170C>G (p.Thr57Ser) | gnomAD v4 |
15 | g.34341993G>T | CA391621963 | NOP10 | c.*1C>A (n.*1C>A) c.173C>A (p.Thr58Asn) c.159+11C>A (n.159+11C>A) c.194C>A (p.Thr65Asn) c.104C>A (p.Thr35Asn) c.155C>A (p.Thr52Asn) n.317C>A c.170C>A (p.Thr57Asn) | |
15 | g.34341994T>A | CA391621964 | NOP10 | c.111A>T (p.Ter37Cys) c.172A>T (p.Thr58Ser) c.159+10A>T (n.159+10A>T) c.193A>T (p.Thr65Ser) c.103A>T (p.Thr35Ser) c.154A>T (p.Thr52Ser) n.316A>T c.169A>T (p.Thr57Ser) | |
15 | g.34341994T>C | CA391621965 | NOP10 | c.111A>G (p.Ter37Trp) c.172A>G (p.Thr58Ala) c.159+10A>G (n.159+10A>G) c.193A>G (p.Thr65Ala) c.103A>G (p.Thr35Ala) c.154A>G (p.Thr52Ala) n.316A>G c.169A>G (p.Thr57Ala) | |
15 | g.34341994T>G | CA391621966 | NOP10 | c.111A>C (p.Ter37Cys) c.172A>C (p.Thr58Pro) c.159+10A>C (n.159+10A>C) c.193A>C (p.Thr65Pro) c.103A>C (p.Thr35Pro) c.154A>C (p.Thr52Pro) n.316A>C c.169A>C (p.Thr57Pro) | |
15 | g.34341995C>A | CA391621967 | NOP10 | c.110G>T (p.Ter37Leu) c.171G>T (p.Met57Ile) c.159+9G>T (n.159+9G>T) c.192G>T (p.Met64Ile) c.102G>T (p.Met34Ile) c.153G>T (p.Met51Ile) n.315G>T c.168G>T (p.Met56Ile) | |
15 | g.34341995C>G | CA391621968 | NOP10 | c.110G>C (p.Ter37Ser) c.171G>C (p.Met57Ile) c.159+9G>C (n.159+9G>C) c.192G>C (p.Met64Ile) c.102G>C (p.Met34Ile) c.153G>C (p.Met51Ile) n.315G>C c.168G>C (p.Met56Ile) | |
15 | g.34341995C>T | CA391621969 | NOP10 | c.110G>A (p.Ter37=) c.171G>A (p.Met57Ile) c.159+9G>A (n.159+9G>A) c.192G>A (p.Met64Ile) c.102G>A (p.Met34Ile) c.153G>A (p.Met51Ile) n.315G>A c.168G>A (p.Met56Ile) | |
15 | g.34341996A>C | CA391621970 | NOP10 | c.109T>G (p.Ter37Gly) c.170T>G (p.Met57Arg) c.159+8T>G (n.159+8T>G) c.191T>G (p.Met64Arg) c.101T>G (p.Met34Arg) c.152T>G (p.Met51Arg) n.314T>G c.167T>G (p.Met56Arg) | |
15 | g.34341996A>G | CA391621971 | NOP10 | c.109T>C (p.Ter37Arg) c.170T>C (p.Met57Thr) c.159+8T>C (n.159+8T>C) c.191T>C (p.Met64Thr) c.101T>C (p.Met34Thr) c.152T>C (p.Met51Thr) n.314T>C c.167T>C (p.Met56Thr) | |
15 | g.34341996A>T | CA391621972 | NOP10 | c.109T>A (p.Ter37Arg) c.170T>A (p.Met57Lys) c.159+8T>A (n.159+8T>A) c.191T>A (p.Met64Lys) c.101T>A (p.Met34Lys) c.152T>A (p.Met51Lys) n.314T>A c.167T>A (p.Met56Lys) | |
15 | g.34341997T>A | CA391621975 | NOP10 | c.108A>T (p.Ser36=) c.169A>T (p.Met57Leu) c.159+7A>T (n.159+7A>T) c.190A>T (p.Met64Leu) c.100A>T (p.Met34Leu) c.151A>T (p.Met51Leu) n.313A>T c.166A>T (p.Met56Leu) | |
15 | g.34341997T>C | CA391621974 | NOP10 | c.108A>G (p.Ser36=) c.169A>G (p.Met57Val) c.159+7A>G (n.159+7A>G) c.190A>G (p.Met64Val) c.100A>G (p.Met34Val) c.151A>G (p.Met51Val) n.313A>G c.166A>G (p.Met56Val) | gnomAD v4 |
15 | g.34341997T>G | CA391621973 | NOP10 | c.108A>C (p.Ser36=) c.169A>C (p.Met57Leu) c.159+7A>C (n.159+7A>C) c.190A>C (p.Met64Leu) c.100A>C (p.Met34Leu) c.151A>C (p.Met51Leu) n.313A>C c.166A>C (p.Met56Leu) | |
15 | g.34342000_34342008del | CA2627640130 | NOP10 | c.100_108del (p.Arg34_Ser36del) c.161_169del (p.Lys54_Leu56del) c.158_159+7del c.182_190del (p.Lys61_Leu63del) c.92_100del (p.Lys31_Leu33del) c.143_151del (p.Lys48_Leu50del) n.305_313del c.158_166del (p.Lys53_Leu55del) | gnomAD v4 |
15 | g.34341998G>A | CA391621976 | NOP10 | c.107C>T (p.Ser36Leu) c.168C>T (p.Leu56=) c.159+6C>T (n.159+6C>T) c.189C>T (p.Leu63=) c.99C>T (p.Leu33=) c.150C>T (p.Leu50=) n.312C>T c.165C>T (p.Leu55=) | ClinVar dbSNP |
15 | g.34341998G>C | CA391621977 | NOP10 | c.107C>G (p.Ser36Ter) c.168C>G (p.Leu56=) c.159+6C>G (n.159+6C>G) c.189C>G (p.Leu63=) c.99C>G (p.Leu33=) c.150C>G (p.Leu50=) n.312C>G c.165C>G (p.Leu55=) | |
15 | g.34341998G>T | CA391621978 | NOP10 | c.107C>A (p.Ser36Ter) c.168C>A (p.Leu56=) c.159+6C>A (n.159+6C>A) c.189C>A (p.Leu63=) c.99C>A (p.Leu33=) c.150C>A (p.Leu50=) n.312C>A c.165C>A (p.Leu55=) | |
15 | g.34341999A>C | CA391621979 | NOP10 | c.106T>G (p.Ser36Ala) c.167T>G (p.Leu56Arg) c.159+5T>G (n.159+5T>G) c.188T>G (p.Leu63Arg) c.98T>G (p.Leu33Arg) c.149T>G (p.Leu50Arg) n.311T>G c.164T>G (p.Leu55Arg) | |
15 | g.34341999A>G | CA391621980 | NOP10 | c.106T>C (p.Ser36Pro) c.167T>C (p.Leu56Pro) c.159+5T>C (n.159+5T>C) c.188T>C (p.Leu63Pro) c.98T>C (p.Leu33Pro) c.149T>C (p.Leu50Pro) n.311T>C c.164T>C (p.Leu55Pro) | |
15 | g.34341999A>T | CA391621981 | NOP10 | c.106T>A (p.Ser36Thr) c.167T>A (p.Leu56His) c.159+5T>A (n.159+5T>A) c.188T>A (p.Leu63His) c.98T>A (p.Leu33His) c.149T>A (p.Leu50His) n.311T>A c.164T>A (p.Leu55His) | |
15 | g.34342000G>A | CA7464764 | NOP10 | c.105C>T (p.Cys35=) c.166C>T (p.Leu56Phe) c.159+4C>T (n.159+4C>T) c.187C>T (p.Leu63Phe) c.97C>T (p.Leu33Phe) c.148C>T (p.Leu50Phe) n.310C>T c.163C>T (p.Leu55Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.34342000G>C | CA391621982 | NOP10 | c.105C>G (p.Cys35Trp) c.166C>G (p.Leu56Val) c.159+4C>G (n.159+4C>G) c.187C>G (p.Leu63Val) c.97C>G (p.Leu33Val) c.148C>G (p.Leu50Val) n.310C>G c.163C>G (p.Leu55Val) | |
15 | g.34342000G>T | CA391621983 | NOP10 | c.105C>A (p.Cys35Ter) c.166C>A (p.Leu56Ile) c.159+4C>A (n.159+4C>A) c.187C>A (p.Leu63Ile) c.97C>A (p.Leu33Ile) c.148C>A (p.Leu50Ile) n.310C>A c.163C>A (p.Leu55Ile) | |
15 | g.34342001C>A | CA391621984 | NOP10 | c.104G>T (p.Cys35Phe) c.165G>T (p.Val55=) c.159+3G>T (n.159+3G>T) c.186G>T (p.Val62=) c.96G>T (p.Val32=) c.147G>T (p.Val49=) n.309G>T c.162G>T (p.Val54=) | |
15 | g.34342001C>G | CA391621985 | NOP10 | c.104G>C (p.Cys35Ser) c.165G>C (p.Val55=) c.159+3G>C (n.159+3G>C) c.186G>C (p.Val62=) c.96G>C (p.Val32=) c.147G>C (p.Val49=) n.309G>C c.162G>C (p.Val54=) | |
15 | g.34342001C>T | CA391621986 | NOP10 | c.104G>A (p.Cys35Tyr) c.165G>A (p.Val55=) c.159+3G>A (n.159+3G>A) c.186G>A (p.Val62=) c.96G>A (p.Val32=) c.147G>A (p.Val49=) n.309G>A c.162G>A (p.Val54=) | gnomAD v4 |
15 | g.34342001_34342002insCC | CA968547386 | NOP10 | c.104_105insGG (p.Cys35TrpfsTer16) c.165_166insGG (p.Leu56GlyfsTer3) c.159+3_159+4insGG (n.159+3_159+4insGG) c.186_187insGG (p.Leu63GlyfsTer3) c.96_97insGG (p.Leu33GlyfsTer3) c.147_148insGG (p.Leu50GlyfsTer3) n.309_310insGG c.162_163insGG (p.Leu55GlyfsTer3) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.34342002A>C | CA391621989 | NOP10 | c.103T>G (p.Cys35Gly) c.164T>G (p.Val55Gly) c.159+2T>G (n.159+2T>G) c.185T>G (p.Val62Gly) c.95T>G (p.Val32Gly) c.146T>G (p.Val49Gly) n.308T>G c.161T>G (p.Val54Gly) | ClinVar dbSNP gnomAD v4 |
15 | g.34342002A>G | CA391621987 | NOP10 | c.103T>C (p.Cys35Arg) c.164T>C (p.Val55Ala) c.159+2T>C (n.159+2T>C) c.185T>C (p.Val62Ala) c.95T>C (p.Val32Ala) c.146T>C (p.Val49Ala) n.308T>C c.161T>C (p.Val54Ala) | |
15 | g.34342002A>T | CA391621988 | NOP10 | c.103T>A (p.Cys35Ser) c.164T>A (p.Val55Glu) c.159+2T>A (n.159+2T>A) c.185T>A (p.Val62Glu) c.95T>A (p.Val32Glu) c.146T>A (p.Val49Glu) n.308T>A c.161T>A (p.Val54Glu) | |
15 | g.34342003C>A | CA391621990 | NOP10 | c.102G>T (p.Arg34Ser) c.163G>T (p.Val55Leu) c.159+1G>T (n.159+1G>T) c.184G>T (p.Val62Leu) c.94G>T (p.Val32Leu) c.145G>T (p.Val49Leu) n.307G>T c.160G>T (p.Val54Leu) | gnomAD v4 |
15 | g.34342003C>G | CA391621991 | NOP10 | c.102G>C (p.Arg34Ser) c.163G>C (p.Val55Leu) c.159+1G>C (n.159+1G>C) c.184G>C (p.Val62Leu) c.94G>C (p.Val32Leu) c.145G>C (p.Val49Leu) n.307G>C c.160G>C (p.Val54Leu) | |
15 | g.34342003C>T | CA391621992 | NOP10 | c.102G>A (p.Arg34=) c.163G>A (p.Val55Met) c.159+1G>A (n.159+1G>A) c.184G>A (p.Val62Met) c.94G>A (p.Val32Met) c.145G>A (p.Val49Met) n.307G>A c.160G>A (p.Val54Met) | gnomAD v4 |
15 | g.34342004C>A | CA391621993 | NOP10 | c.101G>T (p.Arg34Met) c.162G>T (p.Lys54Asn) c.159G>T (p.Lys53Asn) c.183G>T (p.Lys61Asn) c.93G>T (p.Lys31Asn) c.144G>T (p.Lys48Asn) n.306G>T | |
15 | g.34342004C>G | CA391621994 | NOP10 | c.101G>C (p.Arg34Thr) c.162G>C (p.Lys54Asn) c.159G>C (p.Lys53Asn) c.183G>C (p.Lys61Asn) c.93G>C (p.Lys31Asn) c.144G>C (p.Lys48Asn) n.306G>C | |
15 | g.34342004C>T | CA391621995 | NOP10 | c.101G>A (p.Arg34Lys) c.162G>A (p.Lys54=) c.159G>A (p.Lys53=) c.183G>A (p.Lys61=) c.93G>A (p.Lys31=) c.144G>A (p.Lys48=) n.306G>A | |
15 | g.34342009_34342020del | CA617188371 | NOP10 | c.90_101del (p.Asn31_Arg34del) c.151_162del (p.Lys51_Lys54del) c.148_159del (p.Lys50_Lys53del) c.172_183del (p.Lys58_Lys61del) c.82_93del (p.Lys28_Lys31del) c.133_144del (p.Lys45_Lys48del) n.295_306del | dbSNP gnomAD v2 gnomAD v4 |
15 | g.34342005T>A | CA391621996 | NOP10 | c.100A>T (p.Arg34Trp) c.161A>T (p.Lys54Met) c.158A>T (p.Lys53Met) c.182A>T (p.Lys61Met) c.92A>T (p.Lys31Met) c.143A>T (p.Lys48Met) n.305A>T | |
15 | g.34342005T>C | CA7464765 | NOP10 | c.100A>G (p.Arg34Gly) c.161A>G (p.Lys54Arg) c.158A>G (p.Lys53Arg) c.182A>G (p.Lys61Arg) c.92A>G (p.Lys31Arg) c.143A>G (p.Lys48Arg) n.305A>G | dbSNP ExAC gnomAD v2 |
15 | g.34342005T>G | CA391621997 | NOP10 | c.100A>C (p.Arg34=) c.161A>C (p.Lys54Thr) c.158A>C (p.Lys53Thr) c.182A>C (p.Lys61Thr) c.92A>C (p.Lys31Thr) c.143A>C (p.Lys48Thr) n.305A>C | |
15 | g.34342006T>A | CA391621998 | NOP10 | c.99A>T (p.Ser33=) c.160A>T (p.Lys54Ter) c.157A>T (p.Lys53Ter) c.181A>T (p.Lys61Ter) c.91A>T (p.Lys31Ter) c.142A>T (p.Lys48Ter) n.304A>T | |
15 | g.34342006T>C | CA391621999 | NOP10 | c.99A>G (p.Ser33=) c.160A>G (p.Lys54Glu) c.157A>G (p.Lys53Glu) c.181A>G (p.Lys61Glu) c.91A>G (p.Lys31Glu) c.142A>G (p.Lys48Glu) n.304A>G | COSMIC |
15 | g.34342006T>G | CA391622000 | NOP10 | c.99A>C (p.Ser33=) c.160A>C (p.Lys54Gln) c.157A>C (p.Lys53Gln) c.181A>C (p.Lys61Gln) c.91A>C (p.Lys31Gln) c.142A>C (p.Lys48Gln) n.304A>C | |
15 | g.34342007G>A | CA391622002 | NOP10 | c.98C>T (p.Ser33Leu) c.159C>T (p.Phe53=) c.156C>T (p.Phe52=) c.180C>T (p.Phe60=) c.90C>T (p.Phe30=) c.141C>T (p.Phe47=) n.303C>T | COSMIC |
15 | g.34342007G>C | CA391622003 | NOP10 | c.98C>G (p.Ser33Ter) c.159C>G (p.Phe53Leu) c.156C>G (p.Phe52Leu) c.180C>G (p.Phe60Leu) c.90C>G (p.Phe30Leu) c.141C>G (p.Phe47Leu) n.303C>G | ClinVar dbSNP |
15 | g.34342007G>T | CA391622001 | NOP10 | c.98C>A (p.Ser33Ter) c.159C>A (p.Phe53Leu) c.156C>A (p.Phe52Leu) c.180C>A (p.Phe60Leu) c.90C>A (p.Phe30Leu) c.141C>A (p.Phe47Leu) n.303C>A | |
15 | g.34342008A>C | CA391622005 | NOP10 | c.97T>G (p.Ser33Ala) c.158T>G (p.Phe53Cys) c.155T>G (p.Phe52Cys) c.179T>G (p.Phe60Cys) c.89T>G (p.Phe30Cys) c.140T>G (p.Phe47Cys) n.302T>G | gnomAD v4 |
15 | g.34342008A>G | CA391622004 | NOP10 | c.97T>C (p.Ser33Pro) c.158T>C (p.Phe53Ser) c.155T>C (p.Phe52Ser) c.179T>C (p.Phe60Ser) c.89T>C (p.Phe30Ser) c.140T>C (p.Phe47Ser) n.302T>C | |
15 | g.34342008A>T | CA391622006 | NOP10 | c.97T>A (p.Ser33Thr) c.158T>A (p.Phe53Tyr) c.155T>A (p.Phe52Tyr) c.179T>A (p.Phe60Tyr) c.89T>A (p.Phe30Tyr) c.140T>A (p.Phe47Tyr) n.302T>A | |
15 | g.34342009A>C | CA391622007 | NOP10 | c.96T>G (p.Ala32=) c.157T>G (p.Phe53Val) c.154T>G (p.Phe52Val) c.178T>G (p.Phe60Val) c.88T>G (p.Phe30Val) c.139T>G (p.Phe47Val) n.301T>G | |
15 | g.34342009A>G | CA7464766 | NOP10 | c.96T>C (p.Ala32=) c.157T>C (p.Phe53Leu) c.154T>C (p.Phe52Leu) c.178T>C (p.Phe60Leu) c.88T>C (p.Phe30Leu) c.139T>C (p.Phe47Leu) n.301T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.34342009A>T | CA391622008 | NOP10 | c.96T>A (p.Ala32=) c.157T>A (p.Phe53Ile) c.154T>A (p.Phe52Ile) c.178T>A (p.Phe60Ile) c.88T>A (p.Phe30Ile) c.139T>A (p.Phe47Ile) n.301T>A | |
15 | g.34342010G>A | CA391622009 | NOP10 | c.95C>T (p.Ala32Val) c.156C>T (p.Arg52=) c.153C>T (p.Arg51=) c.177C>T (p.Arg59=) c.87C>T (p.Arg29=) c.138C>T (p.Arg46=) n.300C>T | |
15 | g.34342010G>C | CA391622010 | NOP10 | c.95C>G (p.Ala32Gly) c.156C>G (p.Arg52=) c.153C>G (p.Arg51=) c.177C>G (p.Arg59=) c.87C>G (p.Arg29=) c.138C>G (p.Arg46=) n.300C>G | |
15 | g.34342010G>T | CA391622011 | NOP10 | c.95C>A (p.Ala32Asp) c.156C>A (p.Arg52=) c.153C>A (p.Arg51=) c.177C>A (p.Arg59=) c.87C>A (p.Arg29=) c.138C>A (p.Arg46=) n.300C>A | COSMIC |
15 | g.34342011C>A | CA391622012 | NOP10 | c.94G>T (p.Ala32Ser) c.155G>T (p.Arg52Leu) c.152G>T (p.Arg51Leu) c.176G>T (p.Arg59Leu) c.86G>T (p.Arg29Leu) c.137G>T (p.Arg46Leu) n.299G>T | gnomAD v4 |
15 | g.34342011C>G | CA391622013 | NOP10 | c.94G>C (p.Ala32Pro) c.155G>C (p.Arg52Pro) c.152G>C (p.Arg51Pro) c.176G>C (p.Arg59Pro) c.86G>C (p.Arg29Pro) c.137G>C (p.Arg46Pro) n.299G>C | COSMIC |
15 | g.34342011C>T | CA7464767 | NOP10 | c.94G>A (p.Ala32Thr) c.155G>A (p.Arg52His) c.152G>A (p.Arg51His) c.176G>A (p.Arg59His) c.86G>A (p.Arg29His) c.137G>A (p.Arg46His) n.299G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.34342012G>A | CA7464768 | NOP10 | c.93C>T (p.Asn31=) c.154C>T (p.Arg52Cys) c.151C>T (p.Arg51Cys) c.175C>T (p.Arg59Cys) c.85C>T (p.Arg29Cys) c.136C>T (p.Arg46Cys) n.298C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.34342012G>C | CA391622014 | NOP10 | c.93C>G (p.Asn31Lys) c.154C>G (p.Arg52Gly) c.151C>G (p.Arg51Gly) c.175C>G (p.Arg59Gly) c.85C>G (p.Arg29Gly) c.136C>G (p.Arg46Gly) n.298C>G | |
15 | g.34342012G>T | CA391622015 | NOP10 | c.93C>A (p.Asn31Lys) c.154C>A (p.Arg52Ser) c.151C>A (p.Arg51Ser) c.175C>A (p.Arg59Ser) c.85C>A (p.Arg29Ser) c.136C>A (p.Arg46Ser) n.298C>A | |
15 | g.34342013T>A | CA391622017 | NOP10 | c.92A>T (p.Asn31Ile) c.153A>T (p.Lys51Asn) c.150A>T (p.Lys50Asn) c.174A>T (p.Lys58Asn) c.84A>T (p.Lys28Asn) c.135A>T (p.Lys45Asn) n.297A>T | |
15 | g.34342013T>C | CA7464769 | NOP10 | c.92A>G (p.Asn31Ser) c.153A>G (p.Lys51=) c.150A>G (p.Lys50=) c.174A>G (p.Lys58=) c.84A>G (p.Lys28=) c.135A>G (p.Lys45=) n.297A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.34342013T>G | CA391622016 | NOP10 | c.92A>C (p.Asn31Thr) c.153A>C (p.Lys51Asn) c.150A>C (p.Lys50Asn) c.174A>C (p.Lys58Asn) c.84A>C (p.Lys28Asn) c.135A>C (p.Lys45Asn) n.297A>C | |
15 | g.34342014T>A | CA391622018 | NOP10 | c.91A>T (p.Asn31Tyr) c.152A>T (p.Lys51Ile) c.149A>T (p.Lys50Ile) c.173A>T (p.Lys58Ile) c.83A>T (p.Lys28Ile) c.134A>T (p.Lys45Ile) n.296A>T | |
15 | g.34342014T>C | CA391622019 | NOP10 | c.91A>G (p.Asn31Asp) c.152A>G (p.Lys51Arg) c.149A>G (p.Lys50Arg) c.173A>G (p.Lys58Arg) c.83A>G (p.Lys28Arg) c.134A>G (p.Lys45Arg) n.296A>G | |
15 | g.34342014T>G | CA391622020 | NOP10 | c.91A>C (p.Asn31His) c.152A>C (p.Lys51Thr) c.149A>C (p.Lys50Thr) c.173A>C (p.Lys58Thr) c.83A>C (p.Lys28Thr) c.134A>C (p.Lys45Thr) n.296A>C | |
15 | g.34342015T>A | CA391622021 | NOP10 | c.90A>T (p.Arg30Ser) c.151A>T (p.Lys51Ter) c.148A>T (p.Lys50Ter) c.172A>T (p.Lys58Ter) c.82A>T (p.Lys28Ter) c.133A>T (p.Lys45Ter) n.295A>T | |
15 | g.34342015T>C | CA391622022 | NOP10 | c.90A>G (p.Arg30=) c.151A>G (p.Lys51Glu) c.148A>G (p.Lys50Glu) c.172A>G (p.Lys58Glu) c.82A>G (p.Lys28Glu) c.133A>G (p.Lys45Glu) n.295A>G | |
15 | g.34342015T>G | CA391622023 | NOP10 | c.90A>C (p.Arg30Ser) c.151A>C (p.Lys51Gln) c.148A>C (p.Lys50Gln) c.172A>C (p.Lys58Gln) c.82A>C (p.Lys28Gln) c.133A>C (p.Lys45Gln) n.295A>C | |
15 | g.34342016C>A | CA391622024 | NOP10 | c.89G>T (p.Arg30Ile) c.150G>T (p.Lys50Asn) c.147G>T (p.Lys49Asn) c.171G>T (p.Lys57Asn) c.81G>T (p.Lys27Asn) c.132G>T (p.Lys44Asn) n.294G>T | |
15 | g.34342016C>G | CA391622025 | NOP10 | c.89G>C (p.Arg30Thr) c.150G>C (p.Lys50Asn) c.147G>C (p.Lys49Asn) c.171G>C (p.Lys57Asn) c.81G>C (p.Lys27Asn) c.132G>C (p.Lys44Asn) n.294G>C | |
15 | g.34342016C>T | CA391622026 | NOP10 | c.89G>A (p.Arg30Lys) c.150G>A (p.Lys50=) c.147G>A (p.Lys49=) c.171G>A (p.Lys57=) c.81G>A (p.Lys27=) c.132G>A (p.Lys44=) n.294G>A | |
15 | g.34342017T>A | CA391622027 | NOP10 | c.88A>T (p.Arg30Ter) c.149A>T (p.Lys50Met) c.146A>T (p.Lys49Met) c.170A>T (p.Lys57Met) c.80A>T (p.Lys27Met) c.131A>T (p.Lys44Met) n.293A>T | |
15 | g.34342017T>C | CA391622028 | NOP10 | c.88A>G (p.Arg30Gly) c.149A>G (p.Lys50Arg) c.146A>G (p.Lys49Arg) c.170A>G (p.Lys57Arg) c.80A>G (p.Lys27Arg) c.131A>G (p.Lys44Arg) n.293A>G | gnomAD v4 |
15 | g.34342017T>G | CA391622029 | NOP10 | c.88A>C (p.Arg30=) c.149A>C (p.Lys50Thr) c.146A>C (p.Lys49Thr) c.170A>C (p.Lys57Thr) c.80A>C (p.Lys27Thr) c.131A>C (p.Lys44Thr) n.293A>C | |
15 | g.34342018T>A | CA391622032 | NOP10 | c.87A>T (p.Ser29=) c.148A>T (p.Lys50Ter) c.145A>T (p.Lys49Ter) c.169A>T (p.Lys57Ter) c.79A>T (p.Lys27Ter) c.130A>T (p.Lys44Ter) n.292A>T | |
15 | g.34342018T>C | CA391622031 | NOP10 | c.87A>G (p.Ser29=) c.148A>G (p.Lys50Glu) c.145A>G (p.Lys49Glu) c.169A>G (p.Lys57Glu) c.79A>G (p.Lys27Glu) c.130A>G (p.Lys44Glu) n.292A>G | |
15 | g.34342018T>G | CA391622030 | NOP10 | c.87A>C (p.Ser29=) c.148A>C (p.Lys50Gln) c.145A>C (p.Lys49Gln) c.169A>C (p.Lys57Gln) c.79A>C (p.Lys27Gln) c.130A>C (p.Lys44Gln) n.292A>C | |
15 | g.34342019G>A | CA391622033 | NOP10 | c.86C>T (p.Ser29Leu) c.147C>T (p.Ile49=) c.144C>T (p.Ile48=) c.168C>T (p.Ile56=) c.78C>T (p.Ile26=) c.129C>T (p.Ile43=) n.291C>T | |
15 | g.34342019G>C | CA391622034 | NOP10 | c.86C>G (p.Ser29Ter) c.147C>G (p.Ile49Met) c.144C>G (p.Ile48Met) c.168C>G (p.Ile56Met) c.78C>G (p.Ile26Met) c.129C>G (p.Ile43Met) n.291C>G | |
15 | g.34342019G>T | CA391622035 | NOP10 | c.86C>A (p.Ser29Ter) c.147C>A (p.Ile49=) c.144C>A (p.Ile48=) c.168C>A (p.Ile56=) c.78C>A (p.Ile26=) c.129C>A (p.Ile43=) n.291C>A | |
15 | g.34342020A>C | CA391622036 | NOP10 | c.85T>G (p.Ser29Ala) c.146T>G (p.Ile49Ser) c.143T>G (p.Ile48Ser) c.167T>G (p.Ile56Ser) c.77T>G (p.Ile26Ser) c.128T>G (p.Ile43Ser) n.290T>G | |
15 | g.34342020A>G | CA391622037 | NOP10 | c.85T>C (p.Ser29Pro) c.146T>C (p.Ile49Thr) c.143T>C (p.Ile48Thr) c.167T>C (p.Ile56Thr) c.77T>C (p.Ile26Thr) c.128T>C (p.Ile43Thr) n.290T>C | |
15 | g.34342020A>T | CA391622038 | NOP10 | c.85T>A (p.Ser29Thr) c.146T>A (p.Ile49Asn) c.143T>A (p.Ile48Asn) c.167T>A (p.Ile56Asn) c.77T>A (p.Ile26Asn) c.128T>A (p.Ile43Asn) n.290T>A | |
15 | g.34342021T>A | CA391622039 | NOP10 | c.84A>T (p.Pro28=) c.145A>T (p.Ile49Phe) c.142A>T (p.Ile48Phe) c.166A>T (p.Ile56Phe) c.76A>T (p.Ile26Phe) c.127A>T (p.Ile43Phe) n.289A>T | |
15 | g.34342021T>C | CA391622040 | NOP10 | c.84A>G (p.Pro28=) c.145A>G (p.Ile49Val) c.142A>G (p.Ile48Val) c.166A>G (p.Ile56Val) c.76A>G (p.Ile26Val) c.127A>G (p.Ile43Val) n.289A>G | gnomAD v4 |
15 | g.34342021T>G | CA391622041 | NOP10 | c.84A>C (p.Pro28=) c.145A>C (p.Ile49Leu) c.142A>C (p.Ile48Leu) c.166A>C (p.Ile56Leu) c.76A>C (p.Ile26Leu) c.127A>C (p.Ile43Leu) n.289A>C | |
15 | g.34342022G>A | CA391622042 | NOP10 | c.83C>T (p.Pro28Leu) c.144C>T (p.Thr48=) c.141C>T (p.Thr47=) c.165C>T (p.Thr55=) c.75C>T (p.Thr25=) c.126C>T (p.Thr42=) n.288C>T | |
15 | g.34342022G>C | CA391622043 | NOP10 | c.83C>G (p.Pro28Arg) c.144C>G (p.Thr48=) c.141C>G (p.Thr47=) c.165C>G (p.Thr55=) c.75C>G (p.Thr25=) c.126C>G (p.Thr42=) n.288C>G | |
15 | g.34342022G>T | CA391622044 | NOP10 | c.83C>A (p.Pro28Gln) c.144C>A (p.Thr48=) c.141C>A (p.Thr47=) c.165C>A (p.Thr55=) c.75C>A (p.Thr25=) c.126C>A (p.Thr42=) n.288C>A | |
15 | g.34342023dup | CA2497388413 | NOP10 | c.83dup (p.Ser29IlefsTer18) c.144dup (p.Ile49HisfsTer22) c.141dup (p.Ile48HisfsTer10) c.165dup (p.Ile56HisfsTer22) c.75dup (p.Ile26HisfsTer22) c.126dup (p.Ile43HisfsTer22) c.141dup (p.Ile48HisfsTer16) n.288dup c.141dup (p.Ile48HisfsTer22) | ClinVar dbSNP |
15 | g.34342023G>A | CA7464770 | NOP10 | c.82C>T (p.Pro28Ser) c.143C>T (p.Thr48Ile) c.140C>T (p.Thr47Ile) c.164C>T (p.Thr55Ile) c.74C>T (p.Thr25Ile) c.125C>T (p.Thr42Ile) n.287C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
15 | g.34342023G>C | CA391622046 | NOP10 | c.82C>G (p.Pro28Ala) c.143C>G (p.Thr48Ser) c.140C>G (p.Thr47Ser) c.164C>G (p.Thr55Ser) c.74C>G (p.Thr25Ser) c.125C>G (p.Thr42Ser) n.287C>G | |
15 | g.34342023G>T | CA391622045 | NOP10 | c.82C>A (p.Pro28Thr) c.143C>A (p.Thr48Asn) c.140C>A (p.Thr47Asn) c.164C>A (p.Thr55Asn) c.74C>A (p.Thr25Asn) c.125C>A (p.Thr42Asn) n.287C>A | gnomAD v4 |
15 | g.34342024T>A | CA391622047 | NOP10 | c.81A>T (p.Ser27=) c.142A>T (p.Thr48Ser) c.139A>T (p.Thr47Ser) c.163A>T (p.Thr55Ser) c.73A>T (p.Thr25Ser) c.124A>T (p.Thr42Ser) n.286A>T | |
15 | g.34342024T>C | CA391622048 | NOP10 | c.81A>G (p.Ser27=) c.142A>G (p.Thr48Ala) c.139A>G (p.Thr47Ala) c.163A>G (p.Thr55Ala) c.73A>G (p.Thr25Ala) c.124A>G (p.Thr42Ala) n.286A>G | |
15 | g.34342024T>G | CA391622049 | NOP10 | c.81A>C (p.Ser27=) c.142A>C (p.Thr48Pro) c.139A>C (p.Thr47Pro) c.163A>C (p.Thr55Pro) c.73A>C (p.Thr25Pro) c.124A>C (p.Thr42Pro) n.286A>C | |
15 | g.34342025G>A | CA391622050 | NOP10 | c.80C>T (p.Ser27Leu) c.141C>T (p.Ile47=) c.138C>T (p.Ile46=) c.162C>T (p.Ile54=) c.72C>T (p.Ile24=) c.123C>T (p.Ile41=) n.285C>T | dbSNP gnomAD v4 |
15 | g.34342025G>C | CA391622051 | NOP10 | c.80C>G (p.Ser27Ter) c.141C>G (p.Ile47Met) c.138C>G (p.Ile46Met) c.162C>G (p.Ile54Met) c.72C>G (p.Ile24Met) c.123C>G (p.Ile41Met) n.285C>G | |
15 | g.34342025G>T | CA391622052 | NOP10 | c.80C>A (p.Ser27Ter) c.141C>A (p.Ile47=) c.138C>A (p.Ile46=) c.162C>A (p.Ile54=) c.72C>A (p.Ile24=) c.123C>A (p.Ile41=) n.285C>A | |
15 | g.34342026A>C | CA391622053 | NOP10 | c.79T>G (p.Ser27Ala) c.140T>G (p.Ile47Ser) c.137T>G (p.Ile46Ser) c.161T>G (p.Ile54Ser) c.71T>G (p.Ile24Ser) c.122T>G (p.Ile41Ser) n.284T>G | |
15 | g.34342026A>G | CA391622054 | NOP10 | c.79T>C (p.Ser27Pro) c.140T>C (p.Ile47Thr) c.137T>C (p.Ile46Thr) c.161T>C (p.Ile54Thr) c.71T>C (p.Ile24Thr) c.122T>C (p.Ile41Thr) n.284T>C | |
15 | g.34342026A>T | CA391622055 | NOP10 | c.79T>A (p.Ser27Thr) c.140T>A (p.Ile47Asn) c.137T>A (p.Ile46Asn) c.161T>A (p.Ile54Asn) c.71T>A (p.Ile24Asn) c.122T>A (p.Ile41Asn) n.284T>A | |
15 | g.34342027T>A | CA391622056 | NOP10 | c.78A>T (p.Glu26Asp) c.139A>T (p.Ile47Phe) c.136A>T (p.Ile46Phe) c.160A>T (p.Ile54Phe) c.70A>T (p.Ile24Phe) c.121A>T (p.Ile41Phe) n.283A>T | |
15 | g.34342027T>C | CA391622057 | NOP10 | c.78A>G (p.Glu26=) c.139A>G (p.Ile47Val) c.136A>G (p.Ile46Val) c.160A>G (p.Ile54Val) c.70A>G (p.Ile24Val) c.121A>G (p.Ile41Val) n.283A>G | gnomAD v4 |
15 | g.34342027T>G | CA391622058 | NOP10 | c.78A>C (p.Glu26Asp) c.139A>C (p.Ile47Leu) c.136A>C (p.Ile46Leu) c.160A>C (p.Ile54Leu) c.70A>C (p.Ile24Leu) c.121A>C (p.Ile41Leu) n.283A>C | |
15 | g.34342028T>A | CA391622061 | NOP10 | c.77A>T (p.Glu26Val) c.138A>T (p.Arg46=) c.135A>T (p.Arg45=) c.159A>T (p.Arg53=) c.69A>T (p.Arg23=) c.120A>T (p.Arg40=) n.282A>T | |
15 | g.34342028T>C | CA391622060 | NOP10 | c.77A>G (p.Glu26Gly) c.138A>G (p.Arg46=) c.135A>G (p.Arg45=) c.159A>G (p.Arg53=) c.69A>G (p.Arg23=) c.120A>G (p.Arg40=) n.282A>G | |
15 | g.34342028T>G | CA391622059 | NOP10 | c.77A>C (p.Glu26Ala) c.138A>C (p.Arg46=) c.135A>C (p.Arg45=) c.159A>C (p.Arg53=) c.69A>C (p.Arg23=) c.120A>C (p.Arg40=) n.282A>C | |
15 | g.34342028_34342029del | CA2575669048 | NOP10 | c.76_77del (p.Glu26IlefsTer20) c.137_138del (p.Arg46HisfsTer24) c.134_135del (p.Arg45HisfsTer12) c.158_159del (p.Arg53HisfsTer24) c.68_69del (p.Arg23HisfsTer24) c.119_120del (p.Arg40HisfsTer24) c.134_135del (p.Arg45HisfsTer18) n.281_282del c.134_135del (p.Arg45HisfsTer24) | gnomAD v4 |
15 | g.34342028_34342041delinsGGTG | CA915946500 | NOP10 | c.64_77delinsCACC (p.Thr22HisfsTer25) c.125_138delinsCACC (p.Tyr42SerfsTer13) c.122_135delinsCACC (p.Tyr41SerfsTer17) c.146_159delinsCACC (p.Tyr49SerfsTer13) c.56_69delinsCACC (p.Tyr19SerfsTer13) c.107_120delinsCACC (p.Tyr36SerfsTer13) c.122_135delinsCACC (p.Tyr41SerfsTer?) n.269_282delinsCACC c.122_135delinsCACC (p.Tyr41SerfsTer13) | ClinVar dbSNP |
15 | g.34342029C>A | CA268645325 | NOP10 | c.76G>T (p.Glu26Ter) c.137G>T (p.Arg46Leu) c.134G>T (p.Arg45Leu) c.158G>T (p.Arg53Leu) c.68G>T (p.Arg23Leu) c.119G>T (p.Arg40Leu) n.281G>T | dbSNP |
15 | g.34342029C>G | CA391622062 | NOP10 | c.76G>C (p.Glu26Gln) c.137G>C (p.Arg46Pro) c.134G>C (p.Arg45Pro) c.158G>C (p.Arg53Pro) c.68G>C (p.Arg23Pro) c.119G>C (p.Arg40Pro) n.281G>C | |
15 | g.34342029C>T | CA7464771 | NOP10 | c.76G>A (p.Glu26Lys) c.137G>A (p.Arg46Gln) c.134G>A (p.Arg45Gln) c.158G>A (p.Arg53Gln) c.68G>A (p.Arg23Gln) c.119G>A (p.Arg40Gln) n.281G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
15 | g.34342030G>A | CA391622063 | NOP10 | c.75C>T (p.Thr25=) c.136C>T (p.Arg46Ter) c.133C>T (p.Arg45Ter) c.157C>T (p.Arg53Ter) c.67C>T (p.Arg23Ter) c.118C>T (p.Arg40Ter) n.280C>T | dbSNP gnomAD v4 |
15 | g.34342030G>C | CA391622064 | NOP10 | c.75C>G (p.Thr25=) c.136C>G (p.Arg46Gly) c.133C>G (p.Arg45Gly) c.157C>G (p.Arg53Gly) c.67C>G (p.Arg23Gly) c.118C>G (p.Arg40Gly) n.280C>G | |
15 | g.34342030G>T | CA489410008 | NOP10 | c.75C>A (p.Thr25=) c.136C>A (p.Arg46=) c.133C>A (p.Arg45=) c.157C>A (p.Arg53=) c.67C>A (p.Arg23=) c.118C>A (p.Arg40=) n.280C>A | |
15 | g.34342031G>A | CA391622065 | NOP10 | c.74C>T (p.Thr25Ile) c.135C>T (p.His45=) c.132C>T (p.His44=) c.156C>T (p.His52=) c.66C>T (p.His22=) c.117C>T (p.His39=) n.279C>T | |
15 | g.34342031G>C | CA391622066 | NOP10 | c.74C>G (p.Thr25Ser) c.135C>G (p.His45Gln) c.132C>G (p.His44Gln) c.156C>G (p.His52Gln) c.66C>G (p.His22Gln) c.117C>G (p.His39Gln) n.279C>G | |
15 | g.34342031G>T | CA391622067 | NOP10 | c.74C>A (p.Thr25Asn) c.135C>A (p.His45Gln) c.132C>A (p.His44Gln) c.156C>A (p.His52Gln) c.66C>A (p.His22Gln) c.117C>A (p.His39Gln) n.279C>A | |
15 | g.34342032T>A | CA391622068 | NOP10 | c.73A>T (p.Thr25Ser) c.134A>T (p.His45Leu) c.131A>T (p.His44Leu) c.155A>T (p.His52Leu) c.65A>T (p.His22Leu) c.116A>T (p.His39Leu) n.278A>T | |
15 | g.34342032T>C | CA391622069 | NOP10 | c.73A>G (p.Thr25Ala) c.134A>G (p.His45Arg) c.131A>G (p.His44Arg) c.155A>G (p.His52Arg) c.65A>G (p.His22Arg) c.116A>G (p.His39Arg) n.278A>G | |
15 | g.34342032T>G | CA391622070 | NOP10 | c.73A>C (p.Thr25Pro) c.134A>C (p.His45Pro) c.131A>C (p.His44Pro) c.155A>C (p.His52Pro) c.65A>C (p.His22Pro) c.116A>C (p.His39Pro) n.278A>C | |
15 | g.34342033G>A | CA391622071 | NOP10 | c.72C>T (p.Asp24=) c.133C>T (p.His45Tyr) c.130C>T (p.His44Tyr) c.154C>T (p.His52Tyr) c.64C>T (p.His22Tyr) c.115C>T (p.His39Tyr) n.277C>T | |
15 | g.34342033G>C | CA391622072 | NOP10 | c.72C>G (p.Asp24Glu) c.133C>G (p.His45Asp) c.130C>G (p.His44Asp) c.154C>G (p.His52Asp) c.64C>G (p.His22Asp) c.115C>G (p.His39Asp) n.277C>G | |
15 | g.34342033G>T | CA391622073 | NOP10 | c.72C>A (p.Asp24Glu) c.133C>A (p.His45Asn) c.130C>A (p.His44Asn) c.154C>A (p.His52Asn) c.64C>A (p.His22Asn) c.115C>A (p.His39Asn) n.277C>A | |
15 | g.34342034T>A | CA391622076 | NOP10 | c.71A>T (p.Asp24Val) c.132A>T (p.Arg44=) c.129A>T (p.Arg43=) c.153A>T (p.Arg51=) c.63A>T (p.Arg21=) c.114A>T (p.Arg38=) n.276A>T | |
15 | g.34342034T>C | CA391622074 | NOP10 | c.71A>G (p.Asp24Gly) c.132A>G (p.Arg44=) c.129A>G (p.Arg43=) c.153A>G (p.Arg51=) c.63A>G (p.Arg21=) c.114A>G (p.Arg38=) n.276A>G | dbSNP gnomAD v2 gnomAD v4 |
15 | g.34342034T>G | CA391622075 | NOP10 | c.71A>C (p.Asp24Ala) c.132A>C (p.Arg44=) c.129A>C (p.Arg43=) c.153A>C (p.Arg51=) c.63A>C (p.Arg21=) c.114A>C (p.Arg38=) n.276A>C | |
15 | g.34342034_34342041del | CA2575669049 | NOP10 | c.64_71del (p.Thr22HisfsTer22) c.125_132del (p.Tyr42SerfsTer26) c.122_129del (p.Tyr41SerfsTer14) c.146_153del (p.Tyr49SerfsTer26) c.56_63del (p.Tyr19SerfsTer26) c.107_114del (p.Tyr36SerfsTer26) c.122_129del (p.Tyr41SerfsTer20) n.269_276del c.122_129del (p.Tyr41SerfsTer26) | gnomAD v4 |
15 | g.34342035C>A | CA391622077 | NOP10 | c.70G>T (p.Asp24Tyr) c.131G>T (p.Arg44Leu) c.128G>T (p.Arg43Leu) c.152G>T (p.Arg51Leu) c.62G>T (p.Arg21Leu) c.113G>T (p.Arg38Leu) n.275G>T | COSMIC |
15 | g.34342035C>G | CA391622078 | NOP10 | c.70G>C (p.Asp24His) c.131G>C (p.Arg44Pro) c.128G>C (p.Arg43Pro) c.152G>C (p.Arg51Pro) c.62G>C (p.Arg21Pro) c.113G>C (p.Arg38Pro) n.275G>C | |
15 | g.34342035C>T | CA7464772 | NOP10 | c.70G>A (p.Asp24Asn) c.131G>A (p.Arg44Gln) c.128G>A (p.Arg43Gln) c.152G>A (p.Arg51Gln) c.62G>A (p.Arg21Gln) c.113G>A (p.Arg38Gln) n.275G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
15 | g.34342036G>A | CA391622079 | NOP10 | c.69C>T (p.Leu23=) c.130C>T (p.Arg44Ter) c.127C>T (p.Arg43Ter) c.151C>T (p.Arg51Ter) c.61C>T (p.Arg21Ter) c.112C>T (p.Arg38Ter) n.274C>T | COSMIC |
15 | g.34342036G>C | CA391622080 | NOP10 | c.69C>G (p.Leu23=) c.130C>G (p.Arg44Gly) c.127C>G (p.Arg43Gly) c.151C>G (p.Arg51Gly) c.61C>G (p.Arg21Gly) c.112C>G (p.Arg38Gly) n.274C>G | ClinVar dbSNP |
15 | g.34342036G>T | CA489410017 | NOP10 | c.69C>A (p.Leu23=) c.130C>A (p.Arg44=) c.127C>A (p.Arg43=) c.151C>A (p.Arg51=) c.61C>A (p.Arg21=) c.112C>A (p.Arg38=) n.274C>A | gnomAD v4 |
15 | g.34342039_34342040del | CA2575669050 | NOP10 | c.68_69del (p.Leu23ArgfsTer23) c.129_130del (p.Arg44ThrfsTer26) c.126_127del (p.Arg43ThrfsTer14) c.150_151del (p.Arg51ThrfsTer26) c.60_61del (p.Arg21ThrfsTer26) c.111_112del (p.Arg38ThrfsTer26) c.126_127del (p.Arg43ThrfsTer20) n.273_274del c.126_127del (p.Arg43ThrfsTer26) | gnomAD v4 |
15 | g.34342037A>C | CA391622081 | NOP10 | c.68T>G (p.Leu23Arg) c.129T>G (p.Ser43=) c.126T>G (p.Ser42=) c.150T>G (p.Ser50=) c.60T>G (p.Ser20=) c.111T>G (p.Ser37=) n.273T>G | |
15 | g.34342037A>G | CA391622082 | NOP10 | c.68T>C (p.Leu23Pro) c.129T>C (p.Ser43=) c.126T>C (p.Ser42=) c.150T>C (p.Ser50=) c.60T>C (p.Ser20=) c.111T>C (p.Ser37=) n.273T>C | |
15 | g.34342037A>T | CA391622083 | NOP10 | c.68T>A (p.Leu23His) c.129T>A (p.Ser43=) c.126T>A (p.Ser42=) c.150T>A (p.Ser50=) c.60T>A (p.Ser20=) c.111T>A (p.Ser37=) n.273T>A | |
15 | g.34342038G>A | CA391622084 | NOP10 | c.67C>T (p.Leu23Phe) c.128C>T (p.Ser43Phe) c.125C>T (p.Ser42Phe) c.149C>T (p.Ser50Phe) c.59C>T (p.Ser20Phe) c.110C>T (p.Ser37Phe) n.272C>T | dbSNP gnomAD v3 gnomAD v4 |
15 | g.34342038G>C | CA391622085 | NOP10 | c.67C>G (p.Leu23Val) c.128C>G (p.Ser43Cys) c.125C>G (p.Ser42Cys) c.149C>G (p.Ser50Cys) c.59C>G (p.Ser20Cys) c.110C>G (p.Ser37Cys) n.272C>G | |
15 | g.34342038G>T | CA391622086 | NOP10 | c.67C>A (p.Leu23Ile) c.128C>A (p.Ser43Tyr) c.125C>A (p.Ser42Tyr) c.149C>A (p.Ser50Tyr) c.59C>A (p.Ser20Tyr) c.110C>A (p.Ser37Tyr) n.272C>A | |
15 | g.34342039A>C | CA391622088 | NOP10 | c.66T>G (p.Thr22=) c.127T>G (p.Ser43Ala) c.124T>G (p.Ser42Ala) c.148T>G (p.Ser50Ala) c.58T>G (p.Ser20Ala) c.109T>G (p.Ser37Ala) n.271T>G | |
15 | g.34342039A>G | CA391622089 | NOP10 | c.66T>C (p.Thr22=) c.127T>C (p.Ser43Pro) c.124T>C (p.Ser42Pro) c.148T>C (p.Ser50Pro) c.58T>C (p.Ser20Pro) c.109T>C (p.Ser37Pro) n.271T>C | |
15 | g.34342039A>T | CA391622087 | NOP10 | c.66T>A (p.Thr22=) c.127T>A (p.Ser43Thr) c.124T>A (p.Ser42Thr) c.148T>A (p.Ser50Thr) c.58T>A (p.Ser20Thr) c.109T>A (p.Ser37Thr) n.271T>A | |
15 | g.34342040G>A | CA391622090 | NOP10 | c.65C>T (p.Thr22Ile) c.126C>T (p.Tyr42=) c.123C>T (p.Tyr41=) c.147C>T (p.Tyr49=) c.57C>T (p.Tyr19=) c.108C>T (p.Tyr36=) n.270C>T | |
15 | g.34342040G>C | CA391622091 | NOP10 | c.65C>G (p.Thr22Ser) c.126C>G (p.Tyr42Ter) c.123C>G (p.Tyr41Ter) c.147C>G (p.Tyr49Ter) c.57C>G (p.Tyr19Ter) c.108C>G (p.Tyr36Ter) n.270C>G | |
15 | g.34342040G>T | CA391622092 | NOP10 | c.65C>A (p.Thr22Asn) c.126C>A (p.Tyr42Ter) c.123C>A (p.Tyr41Ter) c.147C>A (p.Tyr49Ter) c.57C>A (p.Tyr19Ter) c.108C>A (p.Tyr36Ter) n.270C>A | |
15 | g.34342041T>A | CA391622093 | NOP10 | c.64A>T (p.Thr22Ser) c.125A>T (p.Tyr42Phe) c.122A>T (p.Tyr41Phe) c.146A>T (p.Tyr49Phe) c.56A>T (p.Tyr19Phe) c.107A>T (p.Tyr36Phe) n.269A>T | |
15 | g.34342041T>C | CA7464773 | NOP10 | c.64A>G (p.Thr22Ala) c.125A>G (p.Tyr42Cys) c.122A>G (p.Tyr41Cys) c.146A>G (p.Tyr49Cys) c.56A>G (p.Tyr19Cys) c.107A>G (p.Tyr36Cys) n.269A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.34342041T>G | CA391622094 | NOP10 | c.64A>C (p.Thr22Pro) c.125A>C (p.Tyr42Ser) c.122A>C (p.Tyr41Ser) c.146A>C (p.Tyr49Ser) c.56A>C (p.Tyr19Ser) c.107A>C (p.Tyr36Ser) n.269A>C | |
15 | g.34342042A>C | CA391622095 | NOP10 | c.63T>G (p.Asn21Lys) c.124T>G (p.Tyr42Asp) c.121T>G (p.Tyr41Asp) c.145T>G (p.Tyr49Asp) c.55T>G (p.Tyr19Asp) c.106T>G (p.Tyr36Asp) n.268T>G | |
15 | g.34342042A>G | CA391622096 | NOP10 | c.63T>C (p.Asn21=) c.124T>C (p.Tyr42His) c.121T>C (p.Tyr41His) c.145T>C (p.Tyr49His) c.55T>C (p.Tyr19His) c.106T>C (p.Tyr36His) n.268T>C | |
15 | g.34342042A>T | CA391622097 | NOP10 | c.63T>A (p.Asn21Lys) c.124T>A (p.Tyr42Asn) c.121T>A (p.Tyr41Asn) c.145T>A (p.Tyr49Asn) c.55T>A (p.Tyr19Asn) c.106T>A (p.Tyr36Asn) n.268T>A | |
15 | g.34342043T>A | CA391622098 | NOP10 | c.62A>T (p.Asn21Ile) c.123A>T (p.Lys41Asn) c.120A>T (p.Lys40Asn) c.144A>T (p.Lys48Asn) c.54A>T (p.Lys18Asn) c.105A>T (p.Lys35Asn) n.267A>T | |
15 | g.34342043T>C | CA391622099 | NOP10 | c.62A>G (p.Asn21Ser) c.123A>G (p.Lys41=) c.120A>G (p.Lys40=) c.144A>G (p.Lys48=) c.54A>G (p.Lys18=) c.105A>G (p.Lys35=) n.267A>G | |
15 | g.34342043T>G | CA391622100 | NOP10 | c.62A>C (p.Asn21Thr) c.123A>C (p.Lys41Asn) c.120A>C (p.Lys40Asn) c.144A>C (p.Lys48Asn) c.54A>C (p.Lys18Asn) c.105A>C (p.Lys35Asn) n.267A>C | |
15 | g.34342044T>A | CA391622102 | NOP10 | c.61A>T (p.Asn21Tyr) c.122A>T (p.Lys41Ile) c.119A>T (p.Lys40Ile) c.143A>T (p.Lys48Ile) c.53A>T (p.Lys18Ile) c.104A>T (p.Lys35Ile) n.266A>T | |
15 | g.34342044T>C | CA391622103 | NOP10 | c.61A>G (p.Asn21Asp) c.122A>G (p.Lys41Arg) c.119A>G (p.Lys40Arg) c.143A>G (p.Lys48Arg) c.53A>G (p.Lys18Arg) c.104A>G (p.Lys35Arg) n.266A>G | |
15 | g.34342044T>G | CA391622101 | NOP10 | c.61A>C (p.Asn21His) c.122A>C (p.Lys41Thr) c.119A>C (p.Lys40Thr) c.143A>C (p.Lys48Thr) c.53A>C (p.Lys18Thr) c.104A>C (p.Lys35Thr) n.266A>C | |
15 | g.34342045T>A | CA391622104 | NOP10 | c.60A>T (p.Thr20=) c.121A>T (p.Lys41Ter) c.118A>T (p.Lys40Ter) c.142A>T (p.Lys48Ter) c.52A>T (p.Lys18Ter) c.103A>T (p.Lys35Ter) n.265A>T | |
15 | g.34342045T>C | CA391622105 | NOP10 | c.60A>G (p.Thr20=) c.121A>G (p.Lys41Glu) c.118A>G (p.Lys40Glu) c.142A>G (p.Lys48Glu) c.52A>G (p.Lys18Glu) c.103A>G (p.Lys35Glu) n.265A>G | |
15 | g.34342045T>G | CA391622106 | NOP10 | c.60A>C (p.Thr20=) c.121A>C (p.Lys41Gln) c.118A>C (p.Lys40Gln) c.142A>C (p.Lys48Gln) c.52A>C (p.Lys18Gln) c.103A>C (p.Lys35Gln) n.265A>C | |
15 | g.34342046G>A | CA391622107 | NOP10 | c.59C>T (p.Thr20Ile) c.120C>T (p.Asp40=) c.117C>T (p.Asp39=) c.141C>T (p.Asp47=) c.51C>T (p.Asp17=) c.102C>T (p.Asp34=) n.264C>T | |
15 | g.34342046G>C | CA391622108 | NOP10 | c.59C>G (p.Thr20Arg) c.120C>G (p.Asp40Glu) c.117C>G (p.Asp39Glu) c.141C>G (p.Asp47Glu) c.51C>G (p.Asp17Glu) c.102C>G (p.Asp34Glu) n.264C>G | |
15 | g.34342046G>T | CA391622109 | NOP10 | c.59C>A (p.Thr20Lys) c.120C>A (p.Asp40Glu) c.117C>A (p.Asp39Glu) c.141C>A (p.Asp47Glu) c.51C>A (p.Asp17Glu) c.102C>A (p.Asp34Glu) n.264C>A | |
15 | g.34342047T>A | CA391622112 | NOP10 | c.58A>T (p.Thr20Ser) c.119A>T (p.Asp40Val) c.116A>T (p.Asp39Val) c.140A>T (p.Asp47Val) c.50A>T (p.Asp17Val) c.101A>T (p.Asp34Val) n.263A>T | |
15 | g.34342047T>C | CA391622110 | NOP10 | c.58A>G (p.Thr20Ala) c.119A>G (p.Asp40Gly) c.116A>G (p.Asp39Gly) c.140A>G (p.Asp47Gly) c.50A>G (p.Asp17Gly) c.101A>G (p.Asp34Gly) n.263A>G | |
15 | g.34342047T>G | CA391622111 | NOP10 | c.58A>C (p.Thr20Pro) c.119A>C (p.Asp40Ala) c.116A>C (p.Asp39Ala) c.140A>C (p.Asp47Ala) c.50A>C (p.Asp17Ala) c.101A>C (p.Asp34Ala) n.263A>C | |
15 | g.34342048C>A | CA391622113 | NOP10 | c.57G>T (p.Met19Ile) c.118G>T (p.Asp40Tyr) c.115G>T (p.Asp39Tyr) c.139G>T (p.Asp47Tyr) c.49G>T (p.Asp17Tyr) c.100G>T (p.Asp34Tyr) n.262G>T | |
15 | g.34342048C>G | CA391622114 | NOP10 | c.57G>C (p.Met19Ile) c.118G>C (p.Asp40His) c.115G>C (p.Asp39His) c.139G>C (p.Asp47His) c.49G>C (p.Asp17His) c.100G>C (p.Asp34His) n.262G>C | |
15 | g.34342048C>T | CA7464774 | NOP10 | c.57G>A (p.Met19Ile) c.118G>A (p.Asp40Asn) c.115G>A (p.Asp39Asn) c.139G>A (p.Asp47Asn) c.49G>A (p.Asp17Asn) c.100G>A (p.Asp34Asn) n.262G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.34342049A>C | CA391622115 | NOP10 | c.56T>G (p.Met19Arg) c.117T>G (p.Asp39Glu) c.114T>G (p.Asp38Glu) c.138T>G (p.Asp46Glu) c.48T>G (p.Asp16Glu) c.99T>G (p.Asp33Glu) n.261T>G | |
15 | g.34342049A>G | CA391622116 | NOP10 | c.56T>C (p.Met19Thr) c.117T>C (p.Asp39=) c.114T>C (p.Asp38=) c.138T>C (p.Asp46=) c.48T>C (p.Asp16=) c.99T>C (p.Asp33=) n.261T>C | gnomAD v4 |
15 | g.34342049A>T | CA391622117 | NOP10 | c.56T>A (p.Met19Lys) c.117T>A (p.Asp39Glu) c.114T>A (p.Asp38Glu) c.138T>A (p.Asp46Glu) c.48T>A (p.Asp16Glu) c.99T>A (p.Asp33Glu) n.261T>A | |
15 | g.34342050T>A | CA391622119 | NOP10 | c.55A>T (p.Met19Leu) c.116A>T (p.Asp39Val) c.113A>T (p.Asp38Val) c.137A>T (p.Asp46Val) c.47A>T (p.Asp16Val) c.98A>T (p.Asp33Val) n.260A>T | |
15 | g.34342050T>C | CA391622120 | NOP10 | c.55A>G (p.Met19Val) c.116A>G (p.Asp39Gly) c.113A>G (p.Asp38Gly) c.137A>G (p.Asp46Gly) c.47A>G (p.Asp16Gly) c.98A>G (p.Asp33Gly) n.260A>G | |
15 | g.34342050T>G | CA391622118 | NOP10 | c.55A>C (p.Met19Leu) c.116A>C (p.Asp39Ala) c.113A>C (p.Asp38Ala) c.137A>C (p.Asp46Ala) c.47A>C (p.Asp16Ala) c.98A>C (p.Asp33Ala) n.260A>C | |
15 | g.34342051C>A | CA391622122 | NOP10 | c.55-1G>T (n.55-1G>T) c.115G>T (p.Asp39Tyr) c.112G>T (p.Asp38Tyr) c.136G>T (p.Asp46Tyr) c.46G>T (p.Asp16Tyr) c.97G>T (p.Asp33Tyr) n.260-1G>T | |
15 | g.34342051C>G | CA391622121 | NOP10 | c.55-1G>C (n.55-1G>C) c.115G>C (p.Asp39His) c.112G>C (p.Asp38His) c.136G>C (p.Asp46His) c.46G>C (p.Asp16His) c.97G>C (p.Asp33His) n.260-1G>C | |
15 | g.34342051C>T | CA268645345 | NOP10 | c.55-1G>A (n.55-1G>A) c.115G>A (p.Asp39Asn) c.112G>A (p.Asp38Asn) c.136G>A (p.Asp46Asn) c.46G>A (p.Asp16Asn) c.97G>A (p.Asp33Asn) n.260-1G>A | dbSNP |
15 | g.34342052T>A | CA391622123 | NOP10 | c.55-2A>T (n.55-2A>T) c.114A>T (p.Pro38=) c.111A>T (p.Pro37=) c.135A>T (p.Pro45=) c.45A>T (p.Pro15=) c.96A>T (p.Pro32=) n.260-2A>T | |
15 | g.34342052T>C | CA391622125 | NOP10 | c.55-2A>G (n.55-2A>G) c.114A>G (p.Pro38=) c.111A>G (p.Pro37=) c.135A>G (p.Pro45=) c.45A>G (p.Pro15=) c.96A>G (p.Pro32=) n.260-2A>G | |
15 | g.34342052T>G | CA391622124 | NOP10 | c.55-2A>C (n.55-2A>C) c.114A>C (p.Pro38=) c.111A>C (p.Pro37=) c.135A>C (p.Pro45=) c.45A>C (p.Pro15=) c.96A>C (p.Pro32=) n.260-2A>C | |
15 | g.34342053G>A | CA391622126 | NOP10 | c.55-3C>T (n.55-3C>T) c.113C>T (p.Pro38Leu) c.110C>T (p.Pro37Leu) c.134C>T (p.Pro45Leu) c.44C>T (p.Pro15Leu) c.95C>T (p.Pro32Leu) n.260-3C>T | dbSNP |
15 | g.34342053G>C | CA391622127 | NOP10 | c.55-3C>G (n.55-3C>G) c.113C>G (p.Pro38Arg) c.110C>G (p.Pro37Arg) c.134C>G (p.Pro45Arg) c.44C>G (p.Pro15Arg) c.95C>G (p.Pro32Arg) n.260-3C>G | |
15 | g.34342053G>T | CA391622128 | NOP10 | c.55-3C>A (n.55-3C>A) c.113C>A (p.Pro38Gln) c.110C>A (p.Pro37Gln) c.134C>A (p.Pro45Gln) c.44C>A (p.Pro15Gln) c.95C>A (p.Pro32Gln) n.260-3C>A | |
15 | g.34342054G>A | CA391622129 | NOP10 | c.55-4C>T (n.55-4C>T) c.112C>T (p.Pro38Ser) c.109C>T (p.Pro37Ser) c.133C>T (p.Pro45Ser) c.43C>T (p.Pro15Ser) c.94C>T (p.Pro32Ser) n.260-4C>T | COSMIC |
15 | g.34342054G>C | CA391622130 | NOP10 | c.55-4C>G (n.55-4C>G) c.112C>G (p.Pro38Ala) c.109C>G (p.Pro37Ala) c.133C>G (p.Pro45Ala) c.43C>G (p.Pro15Ala) c.94C>G (p.Pro32Ala) n.260-4C>G | dbSNP |
15 | g.34342054G>T | CA391622131 | NOP10 | c.55-4C>A (n.55-4C>A) c.112C>A (p.Pro38Thr) c.109C>A (p.Pro37Thr) c.133C>A (p.Pro45Thr) c.43C>A (p.Pro15Thr) c.94C>A (p.Pro32Thr) n.260-4C>A | |
15 | g.34342055G>A | CA489410039 | NOP10 | c.55-5C>T (n.55-5C>T) c.111C>T (p.Ser37=) c.108C>T (p.Ser36=) c.132C>T (p.Ser44=) c.42C>T (p.Ser14=) c.93C>T (p.Ser31=) n.260-5C>T | |
15 | g.34342055G>C | CA489410038 | NOP10 | c.55-5C>G (n.55-5C>G) c.111C>G (p.Ser37=) c.108C>G (p.Ser36=) c.132C>G (p.Ser44=) c.42C>G (p.Ser14=) c.93C>G (p.Ser31=) n.260-5C>G | |
15 | g.34342055G>T | CA489410040 | NOP10 | c.55-5C>A (n.55-5C>A) c.111C>A (p.Ser37=) c.108C>A (p.Ser36=) c.132C>A (p.Ser44=) c.42C>A (p.Ser14=) c.93C>A (p.Ser31=) n.260-5C>A | |
15 | g.34342056G>A | CA391622132 | NOP10 | c.55-6C>T (n.55-6C>T) c.110C>T (p.Ser37Phe) c.107C>T (p.Ser36Phe) c.131C>T (p.Ser44Phe) c.41C>T (p.Ser14Phe) c.92C>T (p.Ser31Phe) n.260-6C>T | gnomAD v4 |
15 | g.34342056G>C | CA391622133 | NOP10 | c.55-6C>G (n.55-6C>G) c.110C>G (p.Ser37Cys) c.107C>G (p.Ser36Cys) c.131C>G (p.Ser44Cys) c.41C>G (p.Ser14Cys) c.92C>G (p.Ser31Cys) n.260-6C>G | |
15 | g.34342056G>T | CA391622134 | NOP10 | c.55-6C>A (n.55-6C>A) c.110C>A (p.Ser37Tyr) c.107C>A (p.Ser36Tyr) c.131C>A (p.Ser44Tyr) c.41C>A (p.Ser14Tyr) c.92C>A (p.Ser31Tyr) n.260-6C>A | |
15 | g.34342057A>C | CA391622135 | NOP10 | c.55-7T>G (n.55-7T>G) c.109T>G (p.Ser37Ala) c.106T>G (p.Ser36Ala) c.130T>G (p.Ser44Ala) c.40T>G (p.Ser14Ala) c.91T>G (p.Ser31Ala) n.260-7T>G | |
15 | g.34342057A>G | CA391622136 | NOP10 | c.55-7T>C (n.55-7T>C) c.109T>C (p.Ser37Pro) c.106T>C (p.Ser36Pro) c.130T>C (p.Ser44Pro) c.40T>C (p.Ser14Pro) c.91T>C (p.Ser31Pro) n.260-7T>C | |
15 | g.34342057A>T | CA391622137 | NOP10 | c.55-7T>A (n.55-7T>A) c.109T>A (p.Ser37Thr) c.106T>A (p.Ser36Thr) c.130T>A (p.Ser44Thr) c.40T>A (p.Ser14Thr) c.91T>A (p.Ser31Thr) n.260-7T>A | |
15 | g.34342058G>A | CA489410044 | NOP10 | c.55-8C>T (n.55-8C>T) c.108C>T (p.Phe36=) c.105C>T (p.Phe35=) c.129C>T (p.Phe43=) c.39C>T (p.Phe13=) c.90C>T (p.Phe30=) n.260-8C>T | |
15 | g.34342058G>C | CA391622138 | NOP10 | c.55-8C>G (n.55-8C>G) c.108C>G (p.Phe36Leu) c.105C>G (p.Phe35Leu) c.129C>G (p.Phe43Leu) c.39C>G (p.Phe13Leu) c.90C>G (p.Phe30Leu) n.260-8C>G | |
15 | g.34342058G>T | CA391622139 | NOP10 | c.55-8C>A (n.55-8C>A) c.108C>A (p.Phe36Leu) c.105C>A (p.Phe35Leu) c.129C>A (p.Phe43Leu) c.39C>A (p.Phe13Leu) c.90C>A (p.Phe30Leu) n.260-8C>A | |
15 | g.34342059A>C | CA391622140 | NOP10 | c.55-9T>G (n.55-9T>G) c.107T>G (p.Phe36Cys) c.104T>G (p.Phe35Cys) c.128T>G (p.Phe43Cys) c.38T>G (p.Phe13Cys) c.89T>G (p.Phe30Cys) n.260-9T>G | |
15 | g.34342059A>G | CA391622141 | NOP10 | c.55-9T>C (n.55-9T>C) c.107T>C (p.Phe36Ser) c.104T>C (p.Phe35Ser) c.128T>C (p.Phe43Ser) c.38T>C (p.Phe13Ser) c.89T>C (p.Phe30Ser) n.260-9T>C | |
15 | g.34342059A>T | CA391622142 | NOP10 | c.55-9T>A (n.55-9T>A) c.107T>A (p.Phe36Tyr) c.104T>A (p.Phe35Tyr) c.128T>A (p.Phe43Tyr) c.38T>A (p.Phe13Tyr) c.89T>A (p.Phe30Tyr) n.260-9T>A | |
15 | g.34342060A>C | CA391622143 | NOP10 | c.55-10T>G (n.55-10T>G) c.106T>G (p.Phe36Val) c.103T>G (p.Phe35Val) c.127T>G (p.Phe43Val) c.37T>G (p.Phe13Val) c.88T>G (p.Phe30Val) n.260-10T>G | |
15 | g.34342060A>G | CA391622144 | NOP10 | c.55-10T>C (n.55-10T>C) c.106T>C (p.Phe36Leu) c.103T>C (p.Phe35Leu) c.127T>C (p.Phe43Leu) c.37T>C (p.Phe13Leu) c.88T>C (p.Phe30Leu) n.260-10T>C | |
15 | g.34342060A>T | CA391622145 | NOP10 | c.55-10T>A (n.55-10T>A) c.106T>A (p.Phe36Ile) c.103T>A (p.Phe35Ile) c.127T>A (p.Phe43Ile) c.37T>A (p.Phe13Ile) c.88T>A (p.Phe30Ile) n.260-10T>A | |
15 | g.34342061C>A | CA489410048 | NOP10 | c.55-11G>T (n.55-11G>T) c.105G>T (p.Arg35=) c.102G>T (p.Arg34=) c.126G>T (p.Arg42=) c.36G>T (p.Arg12=) c.87G>T (p.Arg29=) n.260-11G>T | dbSNP gnomAD v4 |
15 | g.34342061C>G | CA489410049 | NOP10 | c.55-11G>C (n.55-11G>C) c.105G>C (p.Arg35=) c.102G>C (p.Arg34=) c.126G>C (p.Arg42=) c.36G>C (p.Arg12=) c.87G>C (p.Arg29=) n.260-11G>C | |
15 | g.34342061C>T | CA7464775 | NOP10 | c.55-11G>A (n.55-11G>A) c.105G>A (p.Arg35=) c.102G>A (p.Arg34=) c.126G>A (p.Arg42=) c.36G>A (p.Arg12=) c.87G>A (p.Arg29=) n.260-11G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.34342062C>A | CA391622146 | NOP10 | c.55-12G>T (n.55-12G>T) c.104G>T (p.Arg35Leu) c.101G>T (p.Arg34Leu) c.125G>T (p.Arg42Leu) c.35G>T (p.Arg12Leu) c.86G>T (p.Arg29Leu) n.260-12G>T | gnomAD v4 |
15 | g.34342062C>G | CA391622147 | NOP10 | c.55-12G>C (n.55-12G>C) c.104G>C (p.Arg35Pro) c.101G>C (p.Arg34Pro) c.125G>C (p.Arg42Pro) c.35G>C (p.Arg12Pro) c.86G>C (p.Arg29Pro) n.260-12G>C | |
15 | g.34342062C>T | CA391622148 | NOP10 | c.55-12G>A (n.55-12G>A) c.104G>A (p.Arg35Gln) c.101G>A (p.Arg34Gln) c.125G>A (p.Arg42Gln) c.35G>A (p.Arg12Gln) c.86G>A (p.Arg29Gln) n.260-12G>A | gnomAD v4 |
15 | g.34342063G>A | CA020161 | NOP10 | c.55-13C>T (n.55-13C>T) c.103C>T (p.Arg35Trp) c.100C>T (p.Arg34Trp) c.124C>T (p.Arg42Trp) c.34C>T (p.Arg12Trp) c.85C>T (p.Arg29Trp) n.260-13C>T | ClinVar dbSNP gnomAD v4 |
15 | g.34342063G>C | CA391622149 | NOP10 | c.55-13C>G (n.55-13C>G) c.103C>G (p.Arg35Gly) c.100C>G (p.Arg34Gly) c.124C>G (p.Arg42Gly) c.34C>G (p.Arg12Gly) c.85C>G (p.Arg29Gly) n.260-13C>G | |
15 | g.34342063G>T | CA489410053 | NOP10 | c.55-13C>A (n.55-13C>A) c.103C>A (p.Arg35=) c.100C>A (p.Arg34=) c.124C>A (p.Arg42=) c.34C>A (p.Arg12=) c.85C>A (p.Arg29=) n.260-13C>A | |
15 | g.34342064A>C | CA489410057 | NOP10 | c.55-14T>G (n.55-14T>G) c.102T>G (p.Ala34=) c.99T>G (p.Ala33=) c.123T>G (p.Ala41=) c.33T>G (p.Ala11=) c.84T>G (p.Ala28=) n.260-14T>G | |
15 | g.34342064A>G | CA489410055 | NOP10 | c.55-14T>C (n.55-14T>C) c.102T>C (p.Ala34=) c.99T>C (p.Ala33=) c.123T>C (p.Ala41=) c.33T>C (p.Ala11=) c.84T>C (p.Ala28=) n.260-14T>C | |
15 | g.34342064A>T | CA489410056 | NOP10 | c.55-14T>A (n.55-14T>A) c.102T>A (p.Ala34=) c.99T>A (p.Ala33=) c.123T>A (p.Ala41=) c.33T>A (p.Ala11=) c.84T>A (p.Ala28=) n.260-14T>A | gnomAD v4 |
15 | g.34342065G>A | CA391622150 | NOP10 | c.55-15C>T (n.55-15C>T) c.101C>T (p.Ala34Val) c.98C>T (p.Ala33Val) c.122C>T (p.Ala41Val) c.32C>T (p.Ala11Val) c.83C>T (p.Ala28Val) n.260-15C>T | dbSNP gnomAD v4 |
15 | g.34342065G>C | CA391622152 | NOP10 | c.55-15C>G (n.55-15C>G) c.101C>G (p.Ala34Gly) c.98C>G (p.Ala33Gly) c.122C>G (p.Ala41Gly) c.32C>G (p.Ala11Gly) c.83C>G (p.Ala28Gly) n.260-15C>G | |
15 | g.34342065G>T | CA391622151 | NOP10 | c.55-15C>A (n.55-15C>A) c.101C>A (p.Ala34Asp) c.98C>A (p.Ala33Asp) c.122C>A (p.Ala41Asp) c.32C>A (p.Ala11Asp) c.83C>A (p.Ala28Asp) n.260-15C>A | |
15 | g.34342066C>A | CA391622153 | NOP10 | c.55-16G>T (n.55-16G>T) c.100G>T (p.Ala34Ser) c.97G>T (p.Ala33Ser) c.121G>T (p.Ala41Ser) c.31G>T (p.Ala11Ser) c.82G>T (p.Ala28Ser) n.260-16G>T | |
15 | g.34342066C>G | CA391622154 | NOP10 | c.55-16G>C (n.55-16G>C) c.100G>C (p.Ala34Pro) c.97G>C (p.Ala33Pro) c.121G>C (p.Ala41Pro) c.31G>C (p.Ala11Pro) c.82G>C (p.Ala28Pro) n.260-16G>C | |
15 | g.34342066C>T | CA391622155 | NOP10 | c.55-16G>A (n.55-16G>A) c.100G>A (p.Ala34Thr) c.97G>A (p.Ala33Thr) c.121G>A (p.Ala41Thr) c.31G>A (p.Ala11Thr) c.82G>A (p.Ala28Thr) n.260-16G>A | |
15 | g.34342067A>C | CA489410060 | NOP10 | c.55-17T>G (n.55-17T>G) c.99T>G (p.Pro33=) c.96T>G (p.Pro32=) c.120T>G (p.Pro40=) c.30T>G (p.Pro10=) c.81T>G (p.Pro27=) n.260-17T>G | |
15 | g.34342067A>G | CA489410059 | NOP10 | c.55-17T>C (n.55-17T>C) c.99T>C (p.Pro33=) c.96T>C (p.Pro32=) c.120T>C (p.Pro40=) c.30T>C (p.Pro10=) c.81T>C (p.Pro27=) n.260-17T>C | COSMIC |
15 | g.34342067A>T | CA489410061 | NOP10 | c.55-17T>A (n.55-17T>A) c.99T>A (p.Pro33=) c.96T>A (p.Pro32=) c.120T>A (p.Pro40=) c.30T>A (p.Pro10=) c.81T>A (p.Pro27=) n.260-17T>A | |
15 | g.34342068G>A | CA391622156 | NOP10 | c.55-18C>T (n.55-18C>T) c.98C>T (p.Pro33Leu) c.95C>T (p.Pro32Leu) c.119C>T (p.Pro40Leu) c.29C>T (p.Pro10Leu) c.80C>T (p.Pro27Leu) n.260-18C>T | dbSNP |
15 | g.34342068G>C | CA391622157 | NOP10 | c.55-18C>G (n.55-18C>G) c.98C>G (p.Pro33Arg) c.95C>G (p.Pro32Arg) c.119C>G (p.Pro40Arg) c.29C>G (p.Pro10Arg) c.80C>G (p.Pro27Arg) n.260-18C>G | ClinVar |
15 | g.34342068G>T | CA391622158 | NOP10 | c.55-18C>A (n.55-18C>A) c.98C>A (p.Pro33His) c.95C>A (p.Pro32His) c.119C>A (p.Pro40His) c.29C>A (p.Pro10His) c.80C>A (p.Pro27His) n.260-18C>A | |
15 | g.34342069G>A | CA391622159 | NOP10 | c.55-19C>T (n.55-19C>T) c.97C>T (p.Pro33Ser) c.94C>T (p.Pro32Ser) c.118C>T (p.Pro40Ser) c.28C>T (p.Pro10Ser) c.79C>T (p.Pro27Ser) n.260-19C>T | dbSNP |
15 | g.34342069G>C | CA7464776 | NOP10 | c.55-19C>G (n.55-19C>G) c.97C>G (p.Pro33Ala) c.94C>G (p.Pro32Ala) c.118C>G (p.Pro40Ala) c.28C>G (p.Pro10Ala) c.79C>G (p.Pro27Ala) n.260-19C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.34342069G>T | CA391622160 | NOP10 | c.55-19C>A (n.55-19C>A) c.97C>A (p.Pro33Thr) c.94C>A (p.Pro32Thr) c.118C>A (p.Pro40Thr) c.28C>A (p.Pro10Thr) c.79C>A (p.Pro27Thr) n.260-19C>A |