| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.52771455C>A | CA5504421 | MBL2 | c.181G>T (p.Glu61Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.52771455C= | CA1910259310 | MBL2 | c.181G= (p.Glu61=) | |
| 10 | g.52771455C>G | CA376539966 | MBL2 | c.181G>C (p.Glu61Gln) | |
| 10 | g.52771455C>T | CA5504420 | MBL2 | c.181G>A (p.Glu61Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.52771456C>A | CA469520582 | MBL2 | c.180G>T (p.Gly60=) | |
| 10 | g.52771456C>G | CA469520583 | MBL2 | c.180G>C (p.Gly60=) | |
| 10 | g.52771456C>T | CA469520581 | MBL2 | c.180G>A (p.Gly60=) | |
| 10 | g.52771457C>A | CA376539967 | MBL2 | c.179G>T (p.Gly60Val) | |
| 10 | g.52771457C>G | CA376539969 | MBL2 | c.179G>C (p.Gly60Ala) | |
| 10 | g.52771457C>T | CA376539968 | MBL2 | c.179G>A (p.Gly60Glu) | COSMIC |
| 10 | g.52771458C>A | CA376539970 | MBL2 | c.178G>T (p.Gly60Trp) | |
| 10 | g.52771458C>G | CA376539971 | MBL2 | c.178G>C (p.Gly60Arg) | |
| 10 | g.52771458C>T | CA376539972 | MBL2 | c.178G>A (p.Gly60Arg) | gnomAD v4 |
| 10 | g.52771459C>A | CA376539973 | MBL2 | c.177G>T (p.Lys59Asn) | |
| 10 | g.52771459C>G | CA376539974 | MBL2 | c.177G>C (p.Lys59Asn) | gnomAD v4 |
| 10 | g.52771459C>T | CA469520585 | MBL2 | c.177G>A (p.Lys59=) | |
| 10 | g.52771460T>A | CA376539975 | MBL2 | c.176A>T (p.Lys59Met) | |
| 10 | g.52771460T>C | CA376539976 | MBL2 | c.176A>G (p.Lys59Arg) | gnomAD v4 |
| 10 | g.52771460T>G | CA376539977 | MBL2 | c.176A>C (p.Lys59Thr) | |
| 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=) |