Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.52771512_52771520del | CA2609210205 | MBL2 | c.118_126del (p.Ser40_Gly42del) | gnomAD v4 |
10 | g.52771514G>A | CA376540087 | MBL2 | c.122C>T (p.Pro41Leu) | |
10 | g.52771514G>C | CA376540088 | MBL2 | c.122C>G (p.Pro41Arg) | |
10 | g.52771514G>T | CA376540089 | MBL2 | c.122C>A (p.Pro41Gln) | |
10 | g.52771515G>A | CA376540090 | MBL2 | c.121C>T (p.Pro41Ser) | |
10 | g.52771515G>C | CA5504431 | MBL2 | c.121C>G (p.Pro41Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52771515G= | CA1910259337 | MBL2 | c.121C= (p.Pro41=) | |
10 | g.52771515G>T | CA376540091 | MBL2 | c.121C>A (p.Pro41Thr) | |
10 | g.52771516A>C | CA469520624 | MBL2 | c.120T>G (p.Ser40=) | |
10 | g.52771516A>G | CA469520625 | MBL2 | c.120T>C (p.Ser40=) | gnomAD v4 |
10 | g.52771516A>T | CA469520626 | MBL2 | c.120T>A (p.Ser40=) | |
10 | g.52771517G>A | CA376540093 | MBL2 | c.119C>T (p.Ser40Phe) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.52771517G>C | CA376540094 | MBL2 | c.119C>G (p.Ser40Cys) | |
10 | g.52771517G= | CA1910259338 | MBL2 | c.119C= (p.Ser40=) | |
10 | g.52771517G>T | CA376540092 | MBL2 | c.119C>A (p.Ser40Tyr) | |
10 | g.52771518A= | CA1910259339 | MBL2 | c.118T= (p.Ser40=) | |
10 | g.52771518A>C | CA5504432 | MBL2 | c.118T>G (p.Ser40Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52771518A>G | CA376540095 | MBL2 | c.118T>C (p.Ser40Pro) | dbSNP |
10 | g.52771518A>T | CA376540096 | MBL2 | c.118T>A (p.Ser40Thr) | |
10 | g.52771519G>A | CA5504433 | MBL2 | c.117C>T (p.Ser39=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.52771519G>C | CA376540097 | MBL2 | c.117C>G (p.Ser39Arg) | |
10 | g.52771519G= | CA1910259340 | MBL2 | c.117C= (p.Ser39=) | |
10 | g.52771519G>T | CA376540098 | MBL2 | c.117C>A (p.Ser39Arg) | |
10 | g.52771520C>A | CA376540099 | MBL2 | c.116G>T (p.Ser39Ile) | |
10 | g.52771520C= | CA1910259341 | MBL2 | c.116G= (p.Ser39=) | |
10 | g.52771520C>G | CA376540100 | MBL2 | c.116G>C (p.Ser39Thr) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52771520C>T | CA5504434 | MBL2 | c.116G>A (p.Ser39Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52771520dup | CA2609210206 | MBL2 | c.116dup (p.Ser39ArgfsTer15) | gnomAD v4 |
10 | g.52771521T>A | CA376540101 | MBL2 | c.115A>T (p.Ser39Cys) | |
10 | g.52771521T>C | CA376540102 | MBL2 | c.115A>G (p.Ser39Gly) | |
10 | g.52771521T>G | CA376540103 | MBL2 | c.115A>C (p.Ser39Arg) | |
10 | g.52771522A= | CA1910259342 | MBL2 | c.114T= (p.Cys38=) | |
10 | g.52771522A>C | CA376540105 | MBL2 | c.114T>G (p.Cys38Trp) | |
10 | g.52771522A>G | CA5504435 | MBL2 | c.114T>C (p.Cys38=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.52771522A>T | CA376540104 | MBL2 | c.114T>A (p.Cys38Ter) | |
10 | g.52771523C>A | CA376540106 | MBL2 | c.113G>T (p.Cys38Phe) | |
10 | g.52771523C= | CA1910259343 | MBL2 | c.113G= (p.Cys38=) | |
10 | g.52771523C>G | CA376540107 | MBL2 | c.113G>C (p.Cys38Ser) | gnomAD v4 |
10 | g.52771523C>T | CA5504436 | MBL2 | c.113G>A (p.Cys38Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.52771524A>C | CA376540108 | MBL2 | c.112T>G (p.Cys38Gly) | |
10 | g.52771524A>G | CA376540109 | MBL2 | c.112T>C (p.Cys38Arg) | |
10 | g.52771524A>T | CA376540110 | MBL2 | c.112T>A (p.Cys38Ser) | |
10 | g.52771525G>A | CA469520627 | MBL2 | c.111C>T (p.Ala37=) | |
10 | g.52771525G>C | CA469520628 | MBL2 | c.111C>G (p.Ala37=) | |
10 | g.52771525G= | CA1910259344 | MBL2 | c.111C= (p.Ala37=) | |
10 | g.52771525G>T | CA469520629 | MBL2 | c.111C>A (p.Ala37=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.52771526G>A | CA376540111 | MBL2 | c.110C>T (p.Ala37Val) | dbSNP gnomAD v4 |
10 | g.52771526G>C | CA376540113 | MBL2 | c.110C>G (p.Ala37Gly) | |
10 | g.52771526G= | CA1910259345 | MBL2 | c.110C= (p.Ala37=) | |
10 | g.52771526G>T | CA376540112 | MBL2 | c.110C>A (p.Ala37Asp) |