Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.73193284G>A | CA400879887 | COG1 | c.215G>A (p.Cys72Tyr) c.213G>A c.192G>A | dbSNP gnomAD v4 |
17 | g.73193284G>C | CA400879888 | COG1 | c.215G>C (p.Cys72Ser) c.213G>C c.192G>C | |
17 | g.73193284G= | CA2274430367 | COG1 | c.215G= (p.Cys72=) c.213G= c.192G= | |
17 | g.73193284G>T | CA400879891 | COG1 | c.215G>T (p.Cys72Phe) c.213G>T c.192G>T | gnomAD v4 |
17 | g.73193285C>A | CA400879894 | COG1 | c.216C>A (p.Cys72Ter) c.214C>A c.193C>A | gnomAD v4 |
17 | g.73193285C= | CA2274430368 | COG1 | c.216C= (p.Cys72=) c.214C= c.193C= | |
17 | g.73193285C>G | CA400879897 | COG1 | c.216C>G (p.Cys72Trp) c.214C>G c.193C>G | |
17 | g.73193285C>T | CA8739905 | COG1 | c.216C>T (p.Cys72=) c.214C>T c.193C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73193286G>A | CA400879904 | COG1 | c.217G>A (p.Ala73Thr) c.215G>A c.194G>A | dbSNP gnomAD v4 |
17 | g.73193286G>C | CA400879907 | COG1 | c.217G>C (p.Ala73Pro) c.215G>C c.194G>C | gnomAD v4 |
17 | g.73193286G>T | CA400879910 | COG1 | c.217G>T (p.Ala73Ser) c.215G>T c.194G>T | gnomAD v4 |
17 | g.73193287C>A | CA400879917 | COG1 | c.218C>A (p.Ala73Asp) c.216C>A c.195C>A | ClinVar gnomAD v4 |
17 | g.73193287C>G | CA400879929 | COG1 | c.218C>G (p.Ala73Gly) c.216C>G c.195C>G | |
17 | g.73193287C>T | CA400879933 | COG1 | c.218C>T (p.Ala73Val) c.216C>T c.195C>T | |
17 | g.73193288C>A | CA502026760 | COG1 | c.219C>A (p.Ala73=) c.217C>A c.196C>A | |
17 | g.73193288C= | CA2274430369 | COG1 | c.219C= (p.Ala73=) c.217C= c.196C= | |
17 | g.73193288C>G | CA8739906 | COG1 | c.219C>G (p.Ala73=) c.217C>G c.196C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.73193288C>T | CA502026761 | COG1 | c.219C>T (p.Ala73=) c.217C>T c.196C>T | gnomAD v4 |
17 | g.73193289G>A | CA400879942 | COG1 | c.220G>A (p.Val74Met) c.218G>A c.197G>A | gnomAD v4 |
17 | g.73193289G>C | CA293797101 | COG1 | c.220G>C (p.Val74Leu) c.218G>C c.197G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73193289G= | CA2274430370 | COG1 | c.220G= (p.Val74=) c.218G= c.197G= | |
17 | g.73193289G>T | CA293797104 | COG1 | c.220G>T (p.Val74Leu) c.218G>T c.197G>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.73193290T>A | CA400879950 | COG1 | c.221T>A (p.Val74Glu) c.219T>A c.198T>A | |
17 | g.73193290T>C | CA400879954 | COG1 | c.221T>C (p.Val74Ala) c.219T>C c.198T>C | gnomAD v4 |
17 | g.73193290T>G | CA400879960 | COG1 | c.221T>G (p.Val74Gly) c.219T>G c.198T>G | |
17 | g.73193290T= | CA2274430371 | COG1 | c.221T= (p.Val74=) c.219T= c.198T= | |
17 | g.73193291G>A | CA502026762 | COG1 | c.222G>A (p.Val74=) c.220G>A c.199G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.73193291G>C | CA502026763 | COG1 | c.222G>C (p.Val74=) c.220G>C c.199G>C | |
17 | g.73193291G= | CA2274430372 | COG1 | c.222G= (p.Val74=) c.220G= c.199G= | |
17 | g.73193291G>T | CA502026764 | COG1 | c.222G>T (p.Val74=) c.220G>T c.199G>T | gnomAD v4 |
17 | g.73193294dup | CA913013655 | COG1 | c.225dup (p.Leu76AlafsTer?) c.223dup c.202dup | dbSNP |
17 | g.73193292G>A | CA8739907 | COG1 | c.223G>A (p.Gly75Arg) c.221G>A c.200G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.73193292G>C | CA400879975 | COG1 | c.223G>C (p.Gly75Arg) c.221G>C c.200G>C | |
17 | g.73193292G= | CA2274430373 | COG1 | c.223G= (p.Gly75=) c.221G= c.200G= | |
17 | g.73193292G>T | CA400879980 | COG1 | c.223G>T (p.Gly75Trp) c.221G>T c.200G>T | |
17 | g.73193293G>A | CA8739909 | COG1 | c.224G>A (p.Gly75Glu) c.222G>A c.201G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73193293G>C | CA8739910 | COG1 | c.224G>C (p.Gly75Ala) c.222G>C c.201G>C | dbSNP ExAC gnomAD v2 |
17 | g.73193293G= | CA2274430374 | COG1 | c.224G= (p.Gly75=) c.222G= c.201G= | |
17 | g.73193293G>T | CA400880017 | COG1 | c.224G>T (p.Gly75Val) c.222G>T c.201G>T | gnomAD v4 |
17 | g.73193293_73193295dup | CA8739908 | COG1 | c.224_226dup (p.Gly75_Leu76insArg) c.222_224dup c.201_203dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.73193294G>A | CA502026767 | COG1 | c.225G>A (p.Gly75=) c.223G>A c.202G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73193294G>C | CA502026766 | COG1 | c.225G>C (p.Gly75=) c.223G>C c.202G>C | gnomAD v4 |
17 | g.73193294G= | CA2274430375 | COG1 | c.225G= (p.Gly75=) c.223G= c.202G= | |
17 | g.73193294G>T | CA502026765 | COG1 | c.225G>T (p.Gly75=) c.223G>T c.202G>T | gnomAD v4 |
17 | g.73193295C>A | CA400880022 | COG1 | c.226C>A (p.Leu76Ile) c.224C>A c.203C>A | gnomAD v4 |
17 | g.73193295C>G | CA400880027 | COG1 | c.226C>G (p.Leu76Val) c.224C>G c.203C>G | |
17 | g.73193295C>T | CA502026768 | COG1 | c.226C>T (p.Leu76=) c.224C>T c.203C>T | |
17 | g.73193296T>A | CA400880061 | COG1 | c.227T>A (p.Leu76Gln) c.225T>A c.204T>A | |
17 | g.73193296T>C | CA400880034 | COG1 | c.227T>C (p.Leu76Pro) c.225T>C c.204T>C | |
17 | g.73193296T>G | CA400880047 | COG1 | c.227T>G (p.Leu76Arg) c.225T>G c.204T>G |