Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.73193226_73193241dup | CA774874972 | COG1 | c.157_172dup (p.Asp58GlyfsTer?) c.155_170dup c.134_149dup | dbSNP |
17 | g.73193234G>A | CA8739897 | COG1 | c.165G>A (p.Arg55=) c.163G>A c.142G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73193234G>C | CA502026728 | COG1 | c.165G>C (p.Arg55=) c.163G>C c.142G>C | |
17 | g.73193234G= | CA2274430340 | COG1 | c.165G= (p.Arg55=) c.163G= c.142G= | |
17 | g.73193234G>T | CA502026727 | COG1 | c.165G>T (p.Arg55=) c.163G>T c.142G>T | |
17 | g.73193235T>A | CA400879428 | COG1 | c.166T>A (p.Tyr56Asn) c.164T>A c.143T>A | |
17 | g.73193235T>C | CA400879422 | COG1 | c.166T>C (p.Tyr56His) c.164T>C c.143T>C | |
17 | g.73193235T>G | CA400879424 | COG1 | c.166T>G (p.Tyr56Asp) c.164T>G c.143T>G | |
17 | g.73193236A>C | CA400879432 | COG1 | c.167A>C (p.Tyr56Ser) c.165A>C c.144A>C | |
17 | g.73193236A>G | CA400879440 | COG1 | c.167A>G (p.Tyr56Cys) c.165A>G c.144A>G | |
17 | g.73193236A>T | CA400879437 | COG1 | c.167A>T (p.Tyr56Phe) c.165A>T c.144A>T | |
17 | g.73193237C>A | CA400879444 | COG1 | c.168C>A (p.Tyr56Ter) c.166C>A c.145C>A | |
17 | g.73193237C= | CA2274430341 | COG1 | c.168C= (p.Tyr56=) c.166C= c.145C= | |
17 | g.73193237C>G | CA293797010 | COG1 | c.168C>G (p.Tyr56Ter) c.166C>G c.145C>G | dbSNP |
17 | g.73193237C>T | CA502026729 | COG1 | c.168C>T (p.Tyr56=) c.166C>T c.145C>T | gnomAD v4 |
17 | g.73193238C>A | CA400879449 | COG1 | c.169C>A (p.Arg57Ser) c.167C>A c.146C>A | gnomAD v4 |
17 | g.73193238C= | CA2274430342 | COG1 | c.169C= (p.Arg57=) c.167C= c.146C= | |
17 | g.73193238C>G | CA400879452 | COG1 | c.169C>G (p.Arg57Gly) c.167C>G c.146C>G | |
17 | g.73193238C>T | CA8739898 | COG1 | c.169C>T (p.Arg57Cys) c.167C>T c.146C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73193239G>A | CA400879458 | COG1 | c.170G>A (p.Arg57His) c.168G>A c.147G>A | gnomAD v4 |
17 | g.73193239G>C | CA400879471 | COG1 | c.170G>C (p.Arg57Pro) c.168G>C c.147G>C | |
17 | g.73193239G>T | CA400879474 | COG1 | c.170G>T (p.Arg57Leu) c.168G>T c.147G>T | |
17 | g.73193240C>A | CA502026730 | COG1 | c.171C>A (p.Arg57=) c.169C>A c.148C>A | gnomAD v4 |
17 | g.73193240C>G | CA502026732 | COG1 | c.171C>G (p.Arg57=) c.169C>G c.148C>G | gnomAD v4 |
17 | g.73193240C>T | CA502026731 | COG1 | c.171C>T (p.Arg57=) c.169C>T c.148C>T | gnomAD v4 |
17 | g.73193241G>A | CA400879480 | COG1 | c.172G>A (p.Asp58Asn) c.170G>A c.149G>A | |
17 | g.73193241G>C | CA400879483 | COG1 | c.172G>C (p.Asp58His) c.170G>C c.149G>C | gnomAD v4 |
17 | g.73193241G= | CA2274430343 | COG1 | c.172G= (p.Asp58=) c.170G= c.149G= | |
17 | g.73193241G>T | CA400879484 | COG1 | c.172G>T (p.Asp58Tyr) c.170G>T c.149G>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.73193242A>C | CA400879490 | COG1 | c.173A>C (p.Asp58Ala) c.171A>C c.150A>C | |
17 | g.73193242A>G | CA400879495 | COG1 | c.173A>G (p.Asp58Gly) c.171A>G c.150A>G | |
17 | g.73193242A>T | CA400879499 | COG1 | c.173A>T (p.Asp58Val) c.171A>T c.150A>T | |
17 | g.73193243C>A | CA400879506 | COG1 | c.174C>A (p.Asp58Glu) c.172C>A c.151C>A | |
17 | g.73193243C>G | CA400879509 | COG1 | c.174C>G (p.Asp58Glu) c.172C>G c.151C>G | gnomAD v4 |
17 | g.73193243C>T | CA502026733 | COG1 | c.174C>T (p.Asp58=) c.172C>T c.151C>T | |
17 | g.73193244C>A | CA400879515 | COG1 | c.175C>A (p.Leu59Met) c.173C>A c.152C>A | |
17 | g.73193244C>G | CA400879520 | COG1 | c.175C>G (p.Leu59Val) c.173C>G c.152C>G | |
17 | g.73193244C>T | CA502026734 | COG1 | c.175C>T (p.Leu59=) c.173C>T c.152C>T | |
17 | g.73193245T>A | CA400879523 | COG1 | c.176T>A (p.Leu59Gln) c.174T>A c.153T>A | |
17 | g.73193245T>C | CA400879526 | COG1 | c.176T>C (p.Leu59Pro) c.174T>C c.153T>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.73193245T>G | CA400879530 | COG1 | c.176T>G (p.Leu59Arg) c.174T>G c.153T>G | |
17 | g.73193245T= | CA2274430344 | COG1 | c.176T= (p.Leu59=) c.174T= c.153T= | |
17 | g.73193246G>A | CA8739899 | COG1 | c.177G>A (p.Leu59=) c.175G>A c.154G>A | dbSNP ExAC gnomAD v2 |
17 | g.73193246G>C | CA502026735 | COG1 | c.177G>C (p.Leu59=) c.175G>C c.154G>C | |
17 | g.73193246G= | CA2274430345 | COG1 | c.177G= (p.Leu59=) c.175G= c.154G= | |
17 | g.73193246G>T | CA502026736 | COG1 | c.177G>T (p.Leu59=) c.175G>T c.154G>T | gnomAD v4 |
17 | g.73193247A>C | CA400879531 | COG1 | c.178A>C (p.Ile60Leu) c.176A>C c.155A>C | |
17 | g.73193247A>G | CA400879532 | COG1 | c.178A>G (p.Ile60Val) c.176A>G c.155A>G | |
17 | g.73193247A>T | CA400879536 | COG1 | c.178A>T (p.Ile60Phe) c.176A>T c.155A>T | |
17 | g.73193248T>A | CA400879540 | COG1 | c.179T>A (p.Ile60Asn) c.177T>A c.156T>A |