Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.52771551G>A | CA376540163 | MBL2 | c.85C>T (p.Gln29Ter) | |
10 | g.52771551G>C | CA376540164 | MBL2 | c.85C>G (p.Gln29Glu) | |
10 | g.52771551G>T | CA376540165 | MBL2 | c.85C>A (p.Gln29Lys) | |
10 | g.52771552G>A | CA469520645 | MBL2 | c.84C>T (p.Ala28=) | |
10 | g.52771552G>C | CA469520646 | MBL2 | c.84C>G (p.Ala28=) | |
10 | g.52771552G>T | CA469520647 | MBL2 | c.84C>A (p.Ala28=) | |
10 | g.52771553G>A | CA207457375 | MBL2 | c.83C>T (p.Ala28Val) | dbSNP gnomAD v4 |
10 | g.52771553G>C | CA376540166 | MBL2 | c.83C>G (p.Ala28Gly) | |
10 | g.52771553G= | CA1910259362 | MBL2 | c.83C= (p.Ala28=) | |
10 | g.52771553G>T | CA376540167 | MBL2 | c.83C>A (p.Ala28Asp) | |
10 | g.52771554C>A | CA376540168 | MBL2 | c.82G>T (p.Ala28Ser) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52771554C= | CA1910259363 | MBL2 | c.82G= (p.Ala28=) | |
10 | g.52771554C>G | CA376540169 | MBL2 | c.82G>C (p.Ala28Pro) | |
10 | g.52771554C>T | CA376540170 | MBL2 | c.82G>A (p.Ala28Thr) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52771555A= | CA1910259364 | MBL2 | c.81T= (p.Asp27=) | |
10 | g.52771555A>C | CA376540171 | MBL2 | c.81T>G (p.Asp27Glu) | dbSNP |
10 | g.52771555A>G | CA469520648 | MBL2 | c.81T>C (p.Asp27=) | dbSNP |
10 | g.52771555A>T | CA376540172 | MBL2 | c.81T>A (p.Asp27Glu) | |
10 | g.52771556T>A | CA376540173 | MBL2 | c.80A>T (p.Asp27Val) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.52771556T>C | CA376540175 | MBL2 | c.80A>G (p.Asp27Gly) | |
10 | g.52771556T>G | CA376540174 | MBL2 | c.80A>C (p.Asp27Ala) | |
10 | g.52771556T= | CA1910259365 | MBL2 | c.80A= (p.Asp27=) | |
10 | g.52771557C>A | CA376540176 | MBL2 | c.79G>T (p.Asp27Tyr) | |
10 | g.52771557C= | CA1910259366 | MBL2 | c.79G= (p.Asp27=) | |
10 | g.52771557C>G | CA376540178 | MBL2 | c.79G>C (p.Asp27His) | |
10 | g.52771557C>T | CA376540177 | MBL2 | c.79G>A (p.Asp27Asn) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52771558del | CA2609210208 | MBL2 | c.79del (p.Asp27MetfsTer9) | gnomAD v4 |
10 | g.52771558C>A | CA376540179 | MBL2 | c.78G>T (p.Glu26Asp) | |
10 | g.52771558C= | CA1910259367 | MBL2 | c.78G= (p.Glu26=) | |
10 | g.52771558C>G | CA376540180 | MBL2 | c.78G>C (p.Glu26Asp) | |
10 | g.52771558C>T | CA469520649 | MBL2 | c.78G>A (p.Glu26=) | dbSNP gnomAD v4 |
10 | g.52771559T>A | CA376540181 | MBL2 | c.77A>T (p.Glu26Val) | |
10 | g.52771559T>C | CA376540182 | MBL2 | c.77A>G (p.Glu26Gly) | |
10 | g.52771559T>G | CA376540183 | MBL2 | c.77A>C (p.Glu26Ala) | |
10 | g.52771560C>A | CA376540184 | MBL2 | c.76G>T (p.Glu26Ter) | |
10 | g.52771560C= | CA1910259368 | MBL2 | c.76G= (p.Glu26=) | |
10 | g.52771560C>G | CA376540185 | MBL2 | c.76G>C (p.Glu26Gln) | |
10 | g.52771560C>T | CA376540186 | MBL2 | c.76G>A (p.Glu26Lys) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52771560_52771563dup | CA2609210209 | MBL2 | c.73_76dup (p.Glu26ValfsTer2) | gnomAD v4 |
10 | g.52771561A>C | CA376540187 | MBL2 | c.75T>G (p.Cys25Trp) | |
10 | g.52771561A>G | CA469520650 | MBL2 | c.75T>C (p.Cys25=) | |
10 | g.52771561A>T | CA376540188 | MBL2 | c.75T>A (p.Cys25Ter) | |
10 | g.52771562C>A | CA376540189 | MBL2 | c.74G>T (p.Cys25Phe) | |
10 | g.52771562C= | CA1910259369 | MBL2 | c.74G= (p.Cys25=) | |
10 | g.52771562C>G | CA207457376 | MBL2 | c.74G>C (p.Cys25Ser) | dbSNP gnomAD v4 |
10 | g.52771562C>T | CA376540190 | MBL2 | c.74G>A (p.Cys25Tyr) | |
10 | g.52771563A= | CA1910259370 | MBL2 | c.73T= (p.Cys25=) | |
10 | g.52771563A>C | CA376540193 | MBL2 | c.73T>G (p.Cys25Gly) | |
10 | g.52771563A>G | CA376540192 | MBL2 | c.73T>C (p.Cys25Arg) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.52771563A>T | CA376540191 | MBL2 | c.73T>A (p.Cys25Ser) |