Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.231421877G>A | CA424040846 | EGLN1 | c.12C>T (p.Asp4=) n.433+40595C>T c.30+40561C>T (n.30+40561C>T) | ClinVar gnomAD v4 |
1 | g.231421877G>C | CA1453218 | EGLN1 | c.12C>G (p.Asp4Glu) n.433+40595C>G c.30+40561C>G (n.30+40561C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.231421877G= | CA1142888950 | EGLN1 | c.12C= (p.Asp4=) n.433+40595C= c.30+40561C= (n.30+40561C=) | |
1 | g.231421877G>T | CA345239613 | EGLN1 | c.12C>A (p.Asp4Glu) n.433+40595C>A c.30+40561C>A (n.30+40561C>A) | gnomAD v4 |
1 | g.231421878T>A | CA345239618 | EGLN1 | c.11A>T (p.Asp4Val) n.433+40594A>T c.30+40560A>T (n.30+40560A>T) | |
1 | g.231421878T>C | CA345239620 | EGLN1 | c.11A>G (p.Asp4Gly) n.433+40594A>G c.30+40560A>G (n.30+40560A>G) | ClinVar |
1 | g.231421878T>G | CA345239616 | EGLN1 | c.11A>C (p.Asp4Ala) n.433+40594A>C c.30+40560A>C (n.30+40560A>C) | |
1 | g.231421879C>A | CA345239625 | EGLN1 | c.10G>T (p.Asp4Tyr) n.433+40593G>T c.30+40559G>T (n.30+40559G>T) | gnomAD v4 |
1 | g.231421879C>G | CA345239628 | EGLN1 | c.10G>C (p.Asp4His) n.433+40593G>C c.30+40559G>C (n.30+40559G>C) | |
1 | g.231421879C>T | CA345239629 | EGLN1 | c.10G>A (p.Asp4Asn) n.433+40593G>A c.30+40559G>A (n.30+40559G>A) | |
1 | g.231421880A= | CA1226965347 | EGLN1 | c.9T= (p.Asn3=) n.433+40592T= c.30+40558T= (n.30+40558T=) | |
1 | g.231421880A>C | CA345239632 | EGLN1 | c.9T>G (p.Asn3Lys) n.433+40592T>G c.30+40558T>G (n.30+40558T>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.231421880A>G | CA424040852 | EGLN1 | c.9T>C (p.Asn3=) n.433+40592T>C c.30+40558T>C (n.30+40558T>C) | ClinVar gnomAD v4 |
1 | g.231421880A>T | CA345239633 | EGLN1 | c.9T>A (p.Asn3Lys) n.433+40592T>A c.30+40558T>A (n.30+40558T>A) | |
1 | g.231421881T>A | CA345239645 | EGLN1 | c.8A>T (p.Asn3Ile) n.433+40591A>T c.30+40557A>T (n.30+40557A>T) | gnomAD v4 |
1 | g.231421881T>C | CA38949163 | EGLN1 | c.8A>G (p.Asn3Ser) n.433+40591A>G c.30+40557A>G (n.30+40557A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.231421881T>G | CA345239641 | EGLN1 | c.8A>C (p.Asn3Thr) n.433+40591A>C c.30+40557A>C (n.30+40557A>C) | |
1 | g.231421881T= | CA1226965348 | EGLN1 | c.8A= (p.Asn3=) n.433+40591A= c.30+40557A= (n.30+40557A=) | |
1 | g.231421882T>A | CA345239650 | EGLN1 | c.7A>T (p.Asn3Tyr) n.433+40590A>T c.30+40556A>T (n.30+40556A>T) | |
1 | g.231421882T>C | CA345239655 | EGLN1 | c.7A>G (p.Asn3Asp) n.433+40590A>G c.30+40556A>G (n.30+40556A>G) | ClinVar gnomAD v4 |
1 | g.231421882T>G | CA345239659 | EGLN1 | c.7A>C (p.Asn3His) n.433+40590A>C c.30+40556A>C (n.30+40556A>C) | |
1 | g.231421883G>A | CA424040856 | EGLN1 | c.6C>T (p.Ala2=) n.433+40589C>T c.30+40555C>T (n.30+40555C>T) | ClinVar dbSNP gnomAD v4 |
1 | g.231421883G>C | CA424040857 | EGLN1 | c.6C>G (p.Ala2=) n.433+40589C>G c.30+40555C>G (n.30+40555C>G) | ClinVar |
1 | g.231421883G>T | CA424040858 | EGLN1 | c.6C>A (p.Ala2=) n.433+40589C>A c.30+40555C>A (n.30+40555C>A) | gnomAD v4 |
1 | g.231421884G>A | CA345239662 | EGLN1 | c.5C>T (p.Ala2Val) n.433+40588C>T c.30+40554C>T (n.30+40554C>T) | gnomAD v4 |
1 | g.231421884G>C | CA345239663 | EGLN1 | c.5C>G (p.Ala2Gly) n.433+40588C>G c.30+40554C>G (n.30+40554C>G) | |
1 | g.231421884G>T | CA345239664 | EGLN1 | c.5C>A (p.Ala2Asp) n.433+40588C>A c.30+40554C>A (n.30+40554C>A) | gnomAD v4 |
1 | g.231421885C>A | CA345239679 | EGLN1 | c.4G>T (p.Ala2Ser) n.433+40587G>T c.30+40553G>T (n.30+40553G>T) | gnomAD v4 |
1 | g.231421885C>G | CA345239682 | EGLN1 | c.4G>C (p.Ala2Pro) n.433+40587G>C c.30+40553G>C (n.30+40553G>C) | |
1 | g.231421885C>T | CA345239676 | EGLN1 | c.4G>A (p.Ala2Thr) n.433+40587G>A c.30+40553G>A (n.30+40553G>A) | gnomAD v4 |
1 | g.231421886C>A | CA345239685 | EGLN1 | c.3G>T (p.Met1Ile) n.433+40586G>T c.30+40552G>T (n.30+40552G>T) | ClinVar dbSNP gnomAD v4 |
1 | g.231421886C= | CA1226965349 | EGLN1 | c.3G= (p.Met1=) n.433+40586G= c.30+40552G= (n.30+40552G=) | |
1 | g.231421886C>G | CA345239689 | EGLN1 | c.3G>C (p.Met1Ile) n.433+40586G>C c.30+40552G>C (n.30+40552G>C) | gnomAD v4 |
1 | g.231421886C>T | CA345239686 | EGLN1 | c.3G>A (p.Met1Ile) n.433+40586G>A c.30+40552G>A (n.30+40552G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.231421887A>C | CA345239692 | EGLN1 | c.2T>G (p.Met1Arg) n.433+40585T>G c.30+40551T>G (n.30+40551T>G) | |
1 | g.231421887A>G | CA345239694 | EGLN1 | c.2T>C (p.Met1Thr) n.433+40585T>C c.30+40551T>C (n.30+40551T>C) | gnomAD v4 |
1 | g.231421887A>T | CA345239696 | EGLN1 | c.2T>A (p.Met1Lys) n.433+40585T>A c.30+40551T>A (n.30+40551T>A) | gnomAD v4 |
1 | g.231421887_231421889del | CA2651007494 | EGLN1 | c.-1_2del n.433+40583_433+40585del c.30+40549_30+40551del (n.30+40549_30+40551del) | gnomAD v4 |
1 | g.231421887_231421892dup | CA2574155036 | EGLN1 | c.-4_2dup (p.Met1insIleAla) n.433+40580_433+40585dup c.30+40546_30+40551dup (n.30+40546_30+40551dup) | |
1 | g.231421888del | CA2651007495 | EGLN1 | c.1del (p.Met1TrpfsTer?) n.433+40584del c.30+40550del (n.30+40550del) | gnomAD v4 |
1 | g.231421888T>A | CA345239698 | EGLN1 | c.1A>T (p.Met1Leu) n.433+40584A>T c.30+40550A>T (n.30+40550A>T) | |
1 | g.231421888T>C | CA345239700 | EGLN1 | c.1A>G (p.Met1Val) n.433+40584A>G c.30+40550A>G (n.30+40550A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.231421888T>G | CA345239701 | EGLN1 | c.1A>C (p.Met1Leu) n.433+40584A>C c.30+40550A>C (n.30+40550A>C) | gnomAD v3 gnomAD v4 |
1 | g.231421888T= | CA1226965351 | EGLN1 | c.1A= (p.Met1=) n.433+40584A= c.30+40550A= (n.30+40550A=) | |
1 | g.231421888_231421900delinsTGGCGGCGGCGGC | CA1226965350 | EGLN1 | c.-12_1delinsGCCGCCGCCGCCA n.433+40572_433+40584delinsGCCGCCGCCGCCA c.30+40538_30+40550delinsGCCGCCGCCGCCA (n.30+40538_30+40550delinsGCCGCCGCCGCCA) | |
1 | g.231421889G>A | CA2651007511 | EGLN1 | c.-1C>T (n.-1C>T) n.433+40583C>T c.30+40549C>T (n.30+40549C>T) | gnomAD v4 |
1 | g.231421889G>T | CA2651007510 | EGLN1 | c.-1C>A (n.-1C>A) n.433+40583C>A c.30+40549C>A (n.30+40549C>A) | gnomAD v4 |
1 | g.231421889_231421907delinsGGCGGCGGCGGCGGCGGCG | CA1147818863 | EGLN1 | c.-19_-1delinsCGCCGCCGCCGCCGCCGCC (n.-19_-1delinsCGCCGCCGCCGCCGCCGCC) n.433+40565_433+40583delinsCGCCGCCGCCGCCGCCGCC c.30+40531_30+40549delinsCGCCGCCGCCGCCGCCGCC (n.30+40531_30+40549delinsCGCCGCCGCCGCCGCCGCC) | |
1 | g.231421907_231421908insGCGGCGGCGGCGGCGGCGGCGGCG | CA2651007512 | EGLN1 | c.-1_1insGCCGCCGCCGCCGCCGCCGCCGCC (p.Met1insAlaAlaAlaAlaAlaAlaAlaAla) n.433+40583_433+40584insGCCGCCGCCGCCGCCGCCGCCGCC c.30+40549_30+40550insGCCGCCGCCGCCGCCGCCGCCGCC (n.30+40549_30+40550insGCCGCCGCCGCCGCCGCCGCCGCC) | gnomAD v4 |
1 | g.231421905_231421907dup | CA1453219 | EGLN1 | c.-3_-1dup (p.Met1insAla) n.433+40581_433+40583dup c.30+40547_30+40549dup (n.30+40547_30+40549dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |