Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.52771461T>A | CA376539978 | MBL2 | c.175A>T (p.Lys59Ter) | |
10 | g.52771461T>C | CA376539979 | MBL2 | c.175A>G (p.Lys59Glu) | |
10 | g.52771461T>G | CA376539980 | MBL2 | c.175A>C (p.Lys59Gln) | |
10 | g.52771462T>A | CA376539981 | MBL2 | c.174A>T (p.Glu58Asp) | |
10 | g.52771462T>C | CA469520586 | MBL2 | c.174A>G (p.Glu58=) | |
10 | g.52771462T>G | CA376539982 | MBL2 | c.174A>C (p.Glu58Asp) | |
10 | g.52771463T>A | CA376539983 | MBL2 | c.173A>T (p.Glu58Val) | |
10 | g.52771463T>C | CA376539984 | MBL2 | c.173A>G (p.Glu58Gly) | |
10 | g.52771463T>G | CA376539985 | MBL2 | c.173A>C (p.Glu58Ala) | gnomAD v4 |
10 | g.52771464C>A | CA376539986 | MBL2 | c.172G>T (p.Glu58Ter) | |
10 | g.52771464C>G | CA376539987 | MBL2 | c.172G>C (p.Glu58Gln) | |
10 | g.52771464C>T | CA376539988 | MBL2 | c.172G>A (p.Glu58Lys) | COSMIC |
10 | g.52771465T>A | CA469520587 | MBL2 | c.171A>T (p.Gly57=) | |
10 | g.52771465T>C | CA469520588 | MBL2 | c.171A>G (p.Gly57=) | |
10 | g.52771465T>G | CA469520589 | MBL2 | c.171A>C (p.Gly57=) | |
10 | g.52771466C>A | CA376539989 | MBL2 | c.170G>T (p.Gly57Val) | |
10 | g.52771466C= | CA1910259311 | MBL2 | c.170G= (p.Gly57=) | |
10 | g.52771466C>G | CA376539990 | MBL2 | c.170G>C (p.Gly57Ala) | gnomAD v4 |
10 | g.52771466C>T | CA123881 | MBL2 | c.170G>A (p.Gly57Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52771467C>A | CA376539991 | MBL2 | c.169G>T (p.Gly57Ter) | dbSNP |
10 | g.52771467C= | CA1910259312 | MBL2 | c.169G= (p.Gly57=) | |
10 | g.52771467C>G | CA5504422 | MBL2 | c.169G>C (p.Gly57Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.52771467C>T | CA376539992 | MBL2 | c.169G>A (p.Gly57Arg) | dbSNP COSMIC |
10 | g.52771468C>A | CA376539994 | MBL2 | c.168G>T (p.Lys56Asn) | |
10 | g.52771468C= | CA1910259313 | MBL2 | c.168G= (p.Lys56=) | |
10 | g.52771468C>G | CA376539993 | MBL2 | c.168G>C (p.Lys56Asn) | gnomAD v4 |
10 | g.52771468C>T | CA5504423 | MBL2 | c.168G>A (p.Lys56=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52771469T>A | CA376539995 | MBL2 | c.167A>T (p.Lys56Met) | |
10 | g.52771469T>C | CA376539996 | MBL2 | c.167A>G (p.Lys56Arg) | dbSNP |
10 | g.52771469T>G | CA376539997 | MBL2 | c.167A>C (p.Lys56Thr) | |
10 | g.52771469T= | CA1910259314 | MBL2 | c.167A= (p.Lys56=) | |
10 | g.52771470T>A | CA376539998 | MBL2 | c.166A>T (p.Lys56Ter) | |
10 | g.52771470T>C | CA10628696 | MBL2 | c.166A>G (p.Lys56Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.52771470T>G | CA376539999 | MBL2 | c.166A>C (p.Lys56Gln) | |
10 | g.52771470T= | CA1910259315 | MBL2 | c.166A= (p.Lys56=) | |
10 | g.52771471G>A | CA469520590 | MBL2 | c.165C>T (p.Thr55=) | |
10 | g.52771471G>C | CA469520591 | MBL2 | c.165C>G (p.Thr55=) | |
10 | g.52771471G>T | CA469520592 | MBL2 | c.165C>A (p.Thr55=) | |
10 | g.52771472G>A | CA376540000 | MBL2 | c.164C>T (p.Thr55Ile) | dbSNP gnomAD v4 |
10 | g.52771472G>C | CA376540001 | MBL2 | c.164C>G (p.Thr55Ser) | gnomAD v4 |
10 | g.52771472G= | CA1910259316 | MBL2 | c.164C= (p.Thr55=) | |
10 | g.52771472G>T | CA376540002 | MBL2 | c.164C>A (p.Thr55Asn) | |
10 | g.52771473T>A | CA376540003 | MBL2 | c.163A>T (p.Thr55Ser) | |
10 | g.52771473T>C | CA10635923 | MBL2 | c.163A>G (p.Thr55Ala) | ClinVar dbSNP gnomAD v2 COSMIC |
10 | g.52771473T>G | CA376540004 | MBL2 | c.163A>C (p.Thr55Pro) | |
10 | g.52771473T= | CA1910259317 | MBL2 | c.163A= (p.Thr55=) | |
10 | g.52771474G>A | CA469520593 | MBL2 | c.162C>T (p.Gly54=) | |
10 | g.52771474G>C | CA469520594 | MBL2 | c.162C>G (p.Gly54=) | |
10 | g.52771474G>T | CA469520595 | MBL2 | c.162C>A (p.Gly54=) | |
10 | g.52771475C>A | CA376540005 | MBL2 | c.161G>T (p.Gly54Val) |