Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.128254472C>A | CA457857229 | LEP | c.213C>A (p.Thr71=) c.210C>A (p.Thr70=) | |
7 | g.128254472C= | CA1742271541 | LEP | c.213C= (p.Thr71=) c.210C= (p.Thr70=) | |
7 | g.128254472C>G | CA457857227 | LEP | c.213C>G (p.Thr71=) c.210C>G (p.Thr70=) | |
7 | g.128254472C>T | CA166745189 | LEP | c.213C>T (p.Thr71=) c.210C>T (p.Thr70=) | dbSNP gnomAD v4 |
7 | g.128254473T>A | CA369443714 | LEP | c.214T>A (p.Leu72Ile) c.211T>A (p.Leu71Ile) | |
7 | g.128254473T>C | CA457857231 | LEP | c.214T>C (p.Leu72=) c.211T>C (p.Leu71=) | |
7 | g.128254473T>G | CA369443715 | LEP | c.214T>G (p.Leu72Val) c.211T>G (p.Leu71Val) | |
7 | g.128254474T>A | CA369443716 | LEP | c.215T>A (p.Leu72Ter) c.212T>A (p.Leu71Ter) | |
7 | g.128254474T>C | CA369443717 | LEP | c.215T>C (p.Leu72Ser) c.212T>C (p.Leu71Ser) | |
7 | g.128254474T>G | CA369443718 | LEP | c.215T>G (p.Leu72Ter) c.212T>G (p.Leu71Ter) | |
7 | g.128254475A>C | CA369443719 | LEP | c.216A>C (p.Leu72Phe) c.213A>C (p.Leu71Phe) | |
7 | g.128254475A>G | CA457857237 | LEP | c.216A>G (p.Leu72=) c.213A>G (p.Leu71=) | |
7 | g.128254475A>T | CA369443720 | LEP | c.216A>T (p.Leu72Phe) c.213A>T (p.Leu71Phe) | |
7 | g.128254476T>A | CA369443723 | LEP | c.217T>A (p.Ser73Thr) c.214T>A (p.Ser72Thr) | |
7 | g.128254476T>C | CA369443722 | LEP | c.217T>C (p.Ser73Pro) c.214T>C (p.Ser72Pro) | |
7 | g.128254476T>G | CA369443721 | LEP | c.217T>G (p.Ser73Ala) c.214T>G (p.Ser72Ala) | |
7 | g.128254477C>A | CA369443724 | LEP | c.218C>A (p.Ser73Tyr) c.215C>A (p.Ser72Tyr) | |
7 | g.128254477C>G | CA369443725 | LEP | c.218C>G (p.Ser73Cys) c.215C>G (p.Ser72Cys) | |
7 | g.128254477C>T | CA369443726 | LEP | c.218C>T (p.Ser73Phe) c.215C>T (p.Ser72Phe) | |
7 | g.128254478C>A | CA457857241 | LEP | c.219C>A (p.Ser73=) c.216C>A (p.Ser72=) | gnomAD v4 |
7 | g.128254478C= | CA1742271548 | LEP | c.219C= (p.Ser73=) c.216C= (p.Ser72=) | |
7 | g.128254478C>G | CA457857242 | LEP | c.219C>G (p.Ser73=) c.216C>G (p.Ser72=) | |
7 | g.128254478C>T | CA4469673 | LEP | c.219C>T (p.Ser73=) c.216C>T (p.Ser72=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128254479A>C | CA369443727 | LEP | c.220A>C (p.Lys74Gln) c.217A>C (p.Lys73Gln) | |
7 | g.128254479A>G | CA369443728 | LEP | c.220A>G (p.Lys74Glu) c.217A>G (p.Lys73Glu) | |
7 | g.128254479A>T | CA369443729 | LEP | c.220A>T (p.Lys74Ter) c.217A>T (p.Lys73Ter) | |
7 | g.128254480A>C | CA369443730 | LEP | c.221A>C (p.Lys74Thr) c.218A>C (p.Lys73Thr) | |
7 | g.128254480A>G | CA369443731 | LEP | c.221A>G (p.Lys74Arg) c.218A>G (p.Lys73Arg) | |
7 | g.128254480A>T | CA369443732 | LEP | c.221A>T (p.Lys74Met) c.218A>T (p.Lys73Met) | gnomAD v4 |
7 | g.128254481G>A | CA457857246 | LEP | c.222G>A (p.Lys74=) c.219G>A (p.Lys73=) | |
7 | g.128254481G>C | CA369443733 | LEP | c.222G>C (p.Lys74Asn) c.219G>C (p.Lys73Asn) | |
7 | g.128254481G>T | CA369443734 | LEP | c.222G>T (p.Lys74Asn) c.219G>T (p.Lys73Asn) | |
7 | g.128254482A>C | CA369443737 | LEP | c.223A>C (p.Met75Leu) c.220A>C (p.Met74Leu) | |
7 | g.128254482A>G | CA369443735 | LEP | c.223A>G (p.Met75Val) c.220A>G (p.Met74Val) | |
7 | g.128254482A>T | CA369443736 | LEP | c.223A>T (p.Met75Leu) c.220A>T (p.Met74Leu) | |
7 | g.128254483T>A | CA369443738 | LEP | c.224T>A (p.Met75Lys) c.221T>A (p.Met74Lys) | |
7 | g.128254483T>C | CA369443739 | LEP | c.224T>C (p.Met75Thr) c.221T>C (p.Met74Thr) | gnomAD v4 |
7 | g.128254483T>G | CA369443740 | LEP | c.224T>G (p.Met75Arg) c.221T>G (p.Met74Arg) | gnomAD v4 |
7 | g.128254484G>A | CA369443741 | LEP | c.225G>A (p.Met75Ile) c.222G>A (p.Met74Ile) | |
7 | g.128254484G>C | CA369443742 | LEP | c.225G>C (p.Met75Ile) c.222G>C (p.Met74Ile) | |
7 | g.128254484G>T | CA369443743 | LEP | c.225G>T (p.Met75Ile) c.222G>T (p.Met74Ile) | |
7 | g.128254485G>A | CA369443744 | LEP | c.226G>A (p.Asp76Asn) c.223G>A (p.Asp75Asn) | |
7 | g.128254485G>C | CA369443745 | LEP | c.226G>C (p.Asp76His) c.223G>C (p.Asp75His) | |
7 | g.128254485G= | CA1742271553 | LEP | c.226G= (p.Asp76=) c.223G= (p.Asp75=) | |
7 | g.128254485G>T | CA166745192 | LEP | c.226G>T (p.Asp76Tyr) c.223G>T (p.Asp75Tyr) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.128254486A= | CA1742271557 | LEP | c.227A= (p.Asp76=) c.224A= (p.Asp75=) | |
7 | g.128254486A>C | CA369443746 | LEP | c.227A>C (p.Asp76Ala) c.224A>C (p.Asp75Ala) | dbSNP gnomAD v2 |
7 | g.128254486A>G | CA369443747 | LEP | c.227A>G (p.Asp76Gly) c.224A>G (p.Asp75Gly) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.128254486A>T | CA369443748 | LEP | c.227A>T (p.Asp76Val) c.224A>T (p.Asp75Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128254487C>A | CA369443750 | LEP | c.228C>A (p.Asp76Glu) c.225C>A (p.Asp75Glu) |