Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
7 | g.128254487C>G | CA369443749 | LEP | c.228C>G (p.Asp76Glu) c.225C>G (p.Asp75Glu) | |
7 | g.128254487C>T | CA457857250 | LEP | c.228C>T (p.Asp76=) c.225C>T (p.Asp75=) | |
7 | g.128254488C>A | CA369443751 | LEP | c.229C>A (p.Gln77Lys) c.226C>A (p.Gln76Lys) | |
7 | g.128254488C>G | CA369443753 | LEP | c.229C>G (p.Gln77Glu) c.226C>G (p.Gln76Glu) | |
7 | g.128254488C>T | CA369443752 | LEP | c.229C>T (p.Gln77Ter) c.226C>T (p.Gln76Ter) | |
7 | g.128254489A>C | CA369443754 | LEP | c.230A>C (p.Gln77Pro) c.227A>C (p.Gln76Pro) | |
7 | g.128254489A>G | CA369443755 | LEP | c.230A>G (p.Gln77Arg) c.227A>G (p.Gln76Arg) | gnomAD v4 |
7 | g.128254489A>T | CA369443756 | LEP | c.230A>T (p.Gln77Leu) c.227A>T (p.Gln76Leu) | |
7 | g.128254490G>A | CA457857254 | LEP | c.231G>A (p.Gln77=) c.228G>A (p.Gln76=) | gnomAD v4 |
7 | g.128254490G>C | CA369443757 | LEP | c.231G>C (p.Gln77His) c.228G>C (p.Gln76His) | |
7 | g.128254490G>T | CA369443758 | LEP | c.231G>T (p.Gln77His) c.228G>T (p.Gln76His) | |
7 | g.128254491A>C | CA369443759 | LEP | c.232A>C (p.Thr78Pro) c.229A>C (p.Thr77Pro) | |
7 | g.128254491A>G | CA369443760 | LEP | c.232A>G (p.Thr78Ala) c.229A>G (p.Thr77Ala) | |
7 | g.128254491A>T | CA369443761 | LEP | c.232A>T (p.Thr78Ser) c.229A>T (p.Thr77Ser) | gnomAD v4 |
7 | g.128254492C>A | CA369443762 | LEP | c.233C>A (p.Thr78Lys) c.230C>A (p.Thr77Lys) | |
7 | g.128254492C>G | CA369443763 | LEP | c.233C>G (p.Thr78Arg) c.230C>G (p.Thr77Arg) | |
7 | g.128254492C>T | CA369443764 | LEP | c.233C>T (p.Thr78Ile) c.230C>T (p.Thr77Ile) | |
7 | g.128254493A= | CA1742271562 | LEP | c.234A= (p.Thr78=) c.231A= (p.Thr77=) | |
7 | g.128254493A>C | CA457857262 | LEP | c.234A>C (p.Thr78=) c.231A>C (p.Thr77=) | |
7 | g.128254493A>G | CA166745194 | LEP | c.234A>G (p.Thr78=) c.231A>G (p.Thr77=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254493A>T | CA457857264 | LEP | c.234A>T (p.Thr78=) c.231A>T (p.Thr77=) | |
7 | g.128254494C>A | CA369443766 | LEP | c.235C>A (p.Leu79Met) c.232C>A (p.Leu78Met) | |
7 | g.128254494C>G | CA369443765 | LEP | c.235C>G (p.Leu79Val) c.232C>G (p.Leu78Val) | |
7 | g.128254494C>T | CA457857265 | LEP | c.235C>T (p.Leu79=) c.232C>T (p.Leu78=) | |
7 | g.128254495T>A | CA369443767 | LEP | c.236T>A (p.Leu79Gln) c.233T>A (p.Leu78Gln) | |
7 | g.128254495T>C | CA369443768 | LEP | c.236T>C (p.Leu79Pro) c.233T>C (p.Leu78Pro) | |
7 | g.128254495T>G | CA369443769 | LEP | c.236T>G (p.Leu79Arg) c.233T>G (p.Leu78Arg) | |
7 | g.128254496G>A | CA457857266 | LEP | c.237G>A (p.Leu79=) c.234G>A (p.Leu78=) | |
7 | g.128254496G>C | CA457857268 | LEP | c.237G>C (p.Leu79=) c.234G>C (p.Leu78=) | |
7 | g.128254496G>T | CA457857270 | LEP | c.237G>T (p.Leu79=) c.234G>T (p.Leu78=) | |
7 | g.128254497G>A | CA369443770 | LEP | c.238G>A (p.Ala80Thr) c.235G>A (p.Ala79Thr) | |
7 | g.128254497G>C | CA369443771 | LEP | c.238G>C (p.Ala80Pro) c.235G>C (p.Ala79Pro) | |
7 | g.128254497G= | CA1742271567 | LEP | c.238G= (p.Ala80=) c.235G= (p.Ala79=) | |
7 | g.128254497G>T | CA4469674 | LEP | c.238G>T (p.Ala80Ser) c.235G>T (p.Ala79Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128254498C>A | CA369443772 | LEP | c.239C>A (p.Ala80Glu) c.236C>A (p.Ala79Glu) | |
7 | g.128254498C= | CA1742271570 | LEP | c.239C= (p.Ala80=) c.236C= (p.Ala79=) | |
7 | g.128254498C>G | CA369443773 | LEP | c.239C>G (p.Ala80Gly) c.236C>G (p.Ala79Gly) | |
7 | g.128254498C>T | CA4469675 | LEP | c.239C>T (p.Ala80Val) c.236C>T (p.Ala79Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128254499A= | CA1742271573 | LEP | c.240A= (p.Ala80=) c.237A= (p.Ala79=) | |
7 | g.128254499A>C | CA457857278 | LEP | c.240A>C (p.Ala80=) c.237A>C (p.Ala79=) | |
7 | g.128254499A>G | CA457857277 | LEP | c.240A>G (p.Ala80=) c.237A>G (p.Ala79=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.128254499A>T | CA457857276 | LEP | c.240A>T (p.Ala80=) c.237A>T (p.Ala79=) | |
7 | g.128254500G>A | CA369443774 | LEP | c.241G>A (p.Val81Ile) c.238G>A (p.Val80Ile) | |
7 | g.128254500G>C | CA369443775 | LEP | c.241G>C (p.Val81Leu) c.238G>C (p.Val80Leu) | |
7 | g.128254500G>T | CA369443776 | LEP | c.241G>T (p.Val81Phe) c.238G>T (p.Val80Phe) | |
7 | g.128254501T>A | CA369443779 | LEP | c.242T>A (p.Val81Asp) c.239T>A (p.Val80Asp) | |
7 | g.128254501T>C | CA369443778 | LEP | c.242T>C (p.Val81Ala) c.239T>C (p.Val80Ala) | |
7 | g.128254501T>G | CA369443777 | LEP | c.242T>G (p.Val81Gly) c.239T>G (p.Val80Gly) | |
7 | g.128254502C>A | CA166745199 | LEP | c.243C>A (p.Val81=) c.240C>A (p.Val80=) | dbSNP |
7 | g.128254502C= | CA1742271578 | LEP | c.243C= (p.Val81=) c.240C= (p.Val80=) | |
7 | g.128254502C>G | CA457857284 | LEP | c.243C>G (p.Val81=) c.240C>G (p.Val80=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.128254502C>T | CA457857285 | LEP | c.243C>T (p.Val81=) c.240C>T (p.Val80=) | |
7 | g.128254503T>A | CA369443780 | LEP | c.244T>A (p.Tyr82Asn) c.241T>A (p.Tyr81Asn) | |
7 | g.128254503T>C | CA369443781 | LEP | c.244T>C (p.Tyr82His) c.241T>C (p.Tyr81His) | |
7 | g.128254503T>G | CA369443782 | LEP | c.244T>G (p.Tyr82Asp) c.241T>G (p.Tyr81Asp) | |
7 | g.128254504A>C | CA369443783 | LEP | c.245A>C (p.Tyr82Ser) c.242A>C (p.Tyr81Ser) | |
7 | g.128254504A>G | CA369443784 | LEP | c.245A>G (p.Tyr82Cys) c.242A>G (p.Tyr81Cys) | |
7 | g.128254504A>T | CA369443785 | LEP | c.245A>T (p.Tyr82Phe) c.242A>T (p.Tyr81Phe) | |
7 | g.128254505C>A | CA369443787 | LEP | c.246C>A (p.Tyr82Ter) c.243C>A (p.Tyr81Ter) | |
7 | g.128254505C>G | CA369443786 | LEP | c.246C>G (p.Tyr82Ter) c.243C>G (p.Tyr81Ter) | |
7 | g.128254505C>T | CA457857288 | LEP | c.246C>T (p.Tyr82=) c.243C>T (p.Tyr81=) | |
7 | g.128254506C>A | CA369443788 | LEP | c.247C>A (p.Gln83Lys) c.244C>A (p.Gln82Lys) | |
7 | g.128254506C= | CA1742271593 | LEP | c.247C= (p.Gln83=) c.244C= (p.Gln82=) | |
7 | g.128254506C>G | CA369443789 | LEP | c.247C>G (p.Gln83Glu) c.244C>G (p.Gln82Glu) | |
7 | g.128254506C>T | CA369443790 | LEP | c.247C>T (p.Gln83Ter) c.244C>T (p.Gln82Ter) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.128254507A>C | CA369443791 | LEP | c.248A>C (p.Gln83Pro) c.245A>C (p.Gln82Pro) | |
7 | g.128254507A>G | CA369443792 | LEP | c.248A>G (p.Gln83Arg) c.245A>G (p.Gln82Arg) | |
7 | g.128254507A>T | CA369443793 | LEP | c.248A>T (p.Gln83Leu) c.245A>T (p.Gln82Leu) | |
7 | g.128254508A= | CA1742271597 | LEP | c.249A= (p.Gln83=) c.246A= (p.Gln82=) | |
7 | g.128254508A>C | CA369443794 | LEP | c.249A>C (p.Gln83His) c.246A>C (p.Gln82His) | |
7 | g.128254508A>G | CA4469676 | LEP | c.249A>G (p.Gln83=) c.246A>G (p.Gln82=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128254508A>T | CA369443795 | LEP | c.249A>T (p.Gln83His) c.246A>T (p.Gln82His) | |
7 | g.128254509C>A | CA369443796 | LEP | c.250C>A (p.Gln84Lys) c.247C>A (p.Gln83Lys) | gnomAD v4 |
7 | g.128254509C= | CA1742271600 | LEP | c.250C= (p.Gln84=) c.247C= (p.Gln83=) | |
7 | g.128254509C>G | CA369443797 | LEP | c.250C>G (p.Gln84Glu) c.247C>G (p.Gln83Glu) | |
7 | g.128254509C>T | CA4469677 | LEP | c.250C>T (p.Gln84Ter) c.247C>T (p.Gln83Ter) | dbSNP ExAC gnomAD v4 |
7 | g.128254510A>C | CA369443798 | LEP | c.251A>C (p.Gln84Pro) c.248A>C (p.Gln83Pro) | |
7 | g.128254510A>G | CA369443799 | LEP | c.251A>G (p.Gln84Arg) c.248A>G (p.Gln83Arg) | |
7 | g.128254510A>T | CA369443800 | LEP | c.251A>T (p.Gln84Leu) c.248A>T (p.Gln83Leu) | |
7 | g.128254511G>A | CA457857296 | LEP | c.252G>A (p.Gln84=) c.249G>A (p.Gln83=) | |
7 | g.128254511G>C | CA369443801 | LEP | c.252G>C (p.Gln84His) c.249G>C (p.Gln83His) | |
7 | g.128254511G>T | CA369443802 | LEP | c.252G>T (p.Gln84His) c.249G>T (p.Gln83His) | |
7 | g.128254512A= | CA1742271601 | LEP | c.253A= (p.Ile85=) c.250A= (p.Ile84=) | |
7 | g.128254512A>C | CA369443803 | LEP | c.253A>C (p.Ile85Leu) c.250A>C (p.Ile84Leu) | |
7 | g.128254512A>G | CA369443804 | LEP | c.253A>G (p.Ile85Val) c.250A>G (p.Ile84Val) | gnomAD v4 |
7 | g.128254512A>T | CA369443805 | LEP | c.253A>T (p.Ile85Phe) c.250A>T (p.Ile84Phe) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128254513T>A | CA369443807 | LEP | c.254T>A (p.Ile85Asn) c.251T>A (p.Ile84Asn) | |
7 | g.128254513T>C | CA369443808 | LEP | c.254T>C (p.Ile85Thr) c.251T>C (p.Ile84Thr) | |
7 | g.128254513T>G | CA369443806 | LEP | c.254T>G (p.Ile85Ser) c.251T>G (p.Ile84Ser) | |
7 | g.128254514C>A | CA4469678 | LEP | c.255C>A (p.Ile85=) c.252C>A (p.Ile84=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254514C= | CA1742271604 | LEP | c.255C= (p.Ile85=) c.252C= (p.Ile84=) | |
7 | g.128254514C>G | CA369443809 | LEP | c.255C>G (p.Ile85Met) c.252C>G (p.Ile84Met) | |
7 | g.128254514C>T | CA457857304 | LEP | c.255C>T (p.Ile85=) c.252C>T (p.Ile84=) | gnomAD v4 |
7 | g.128254515C>A | CA369443811 | LEP | c.256C>A (p.Leu86Ile) c.253C>A (p.Leu85Ile) | |
7 | g.128254515C= | CA1742271616 | LEP | c.256C= (p.Leu86=) c.253C= (p.Leu85=) | |
7 | g.128254515C>G | CA369443810 | LEP | c.256C>G (p.Leu86Val) c.253C>G (p.Leu85Val) | |
7 | g.128254515C>T | CA4469679 | LEP | c.256C>T (p.Leu86Phe) c.253C>T (p.Leu85Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128254516T>A | CA369443812 | LEP | c.257T>A (p.Leu86His) c.254T>A (p.Leu85His) | |
7 | g.128254516T>C | CA369443814 | LEP | c.257T>C (p.Leu86Pro) c.254T>C (p.Leu85Pro) | |
7 | g.128254516T>G | CA369443813 | LEP | c.257T>G (p.Leu86Arg) c.254T>G (p.Leu85Arg) | |
7 | g.128254517C>A | CA457857311 | LEP | c.258C>A (p.Leu86=) c.255C>A (p.Leu85=) | |
7 | g.128254517C= | CA1742271619 | LEP | c.258C= (p.Leu86=) c.255C= (p.Leu85=) | |
7 | g.128254517C>G | CA457857312 | LEP | c.258C>G (p.Leu86=) c.255C>G (p.Leu85=) | |
7 | g.128254517C>T | CA4469680 | LEP | c.258C>T (p.Leu86=) c.255C>T (p.Leu85=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254518A>C | CA369443815 | LEP | c.259A>C (p.Thr87Pro) c.256A>C (p.Thr86Pro) | |
7 | g.128254518A>G | CA369443816 | LEP | c.259A>G (p.Thr87Ala) c.256A>G (p.Thr86Ala) | |
7 | g.128254518A>T | CA369443817 | LEP | c.259A>T (p.Thr87Ser) c.256A>T (p.Thr86Ser) | |
7 | g.128254519C>A | CA369443818 | LEP | c.260C>A (p.Thr87Asn) c.257C>A (p.Thr86Asn) | |
7 | g.128254519C>G | CA369443819 | LEP | c.260C>G (p.Thr87Ser) c.257C>G (p.Thr86Ser) | |
7 | g.128254519C>T | CA369443820 | LEP | c.260C>T (p.Thr87Ile) c.257C>T (p.Thr86Ile) | |
7 | g.128254520C>A | CA457857316 | LEP | c.261C>A (p.Thr87=) c.258C>A (p.Thr86=) | |
7 | g.128254520C>G | CA457857314 | LEP | c.261C>G (p.Thr87=) c.258C>G (p.Thr86=) | |
7 | g.128254520C>T | CA457857315 | LEP | c.261C>T (p.Thr87=) c.258C>T (p.Thr86=) | |
7 | g.128254521A= | CA1742271623 | LEP | c.262A= (p.Ser88=) c.259A= (p.Ser87=) | |
7 | g.128254521A>C | CA369443821 | LEP | c.262A>C (p.Ser88Arg) c.259A>C (p.Ser87Arg) | |
7 | g.128254521A>G | CA369443822 | LEP | c.262A>G (p.Ser88Gly) c.259A>G (p.Ser87Gly) | |
7 | g.128254521A>T | CA166745209 | LEP | c.262A>T (p.Ser88Cys) c.259A>T (p.Ser87Cys) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128254522G>A | CA369443825 | LEP | c.263G>A (p.Ser88Asn) c.260G>A (p.Ser87Asn) | |
7 | g.128254522G>C | CA369443824 | LEP | c.263G>C (p.Ser88Thr) c.260G>C (p.Ser87Thr) | dbSNP |
7 | g.128254522G= | CA1742271629 | LEP | c.263G= (p.Ser88=) c.260G= (p.Ser87=) | |
7 | g.128254522G>T | CA369443823 | LEP | c.263G>T (p.Ser88Ile) c.260G>T (p.Ser87Ile) | |
7 | g.128254523T>A | CA369443826 | LEP | c.264T>A (p.Ser88Arg) c.261T>A (p.Ser87Arg) | |
7 | g.128254523T>C | CA457857317 | LEP | c.264T>C (p.Ser88=) c.261T>C (p.Ser87=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254523T>G | CA369443827 | LEP | c.264T>G (p.Ser88Arg) c.261T>G (p.Ser87Arg) | |
7 | g.128254523T= | CA1742271634 | LEP | c.264T= (p.Ser88=) c.261T= (p.Ser87=) | |
7 | g.128254524A= | CA1742271637 | LEP | c.265A= (p.Met89=) c.262A= (p.Met88=) | |
7 | g.128254524A>C | CA369443828 | LEP | c.265A>C (p.Met89Leu) c.262A>C (p.Met88Leu) | |
7 | g.128254524A>G | CA369443829 | LEP | c.265A>G (p.Met89Val) c.262A>G (p.Met88Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254524A>T | CA369443830 | LEP | c.265A>T (p.Met89Leu) c.262A>T (p.Met88Leu) | |
7 | g.128254525T>A | CA369443831 | LEP | c.266T>A (p.Met89Lys) c.263T>A (p.Met88Lys) | |
7 | g.128254525T>C | CA369443832 | LEP | c.266T>C (p.Met89Thr) c.263T>C (p.Met88Thr) | |
7 | g.128254525T>G | CA369443833 | LEP | c.266T>G (p.Met89Arg) c.263T>G (p.Met88Arg) | |
7 | g.128254526G>A | CA369443834 | LEP | c.267G>A (p.Met89Ile) c.264G>A (p.Met88Ile) | |
7 | g.128254526G>C | CA369443835 | LEP | c.267G>C (p.Met89Ile) c.264G>C (p.Met88Ile) | |
7 | g.128254526G>T | CA369443836 | LEP | c.267G>T (p.Met89Ile) c.264G>T (p.Met88Ile) | |
7 | g.128254527C>A | CA4469681 | LEP | c.268C>A (p.Pro90Thr) c.265C>A (p.Pro89Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128254527C= | CA1742271640 | LEP | c.268C= (p.Pro90=) c.265C= (p.Pro89=) | |
7 | g.128254527C>G | CA369443838 | LEP | c.268C>G (p.Pro90Ala) c.265C>G (p.Pro89Ala) | dbSNP |
7 | g.128254527C>T | CA369443837 | LEP | c.268C>T (p.Pro90Ser) c.265C>T (p.Pro89Ser) | |
7 | g.128254528C>A | CA369443839 | LEP | c.269C>A (p.Pro90His) c.266C>A (p.Pro89His) | |
7 | g.128254528C= | CA1742271645 | LEP | c.269C= (p.Pro90=) c.266C= (p.Pro89=) | |
7 | g.128254528C>G | CA369443840 | LEP | c.269C>G (p.Pro90Arg) c.266C>G (p.Pro89Arg) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.128254528C>T | CA369443841 | LEP | c.269C>T (p.Pro90Leu) c.266C>T (p.Pro89Leu) | |
7 | g.128254529T>A | CA457857327 | LEP | c.270T>A (p.Pro90=) c.267T>A (p.Pro89=) | |
7 | g.128254529T>C | CA457857329 | LEP | c.270T>C (p.Pro90=) c.267T>C (p.Pro89=) | |
7 | g.128254529T>G | CA457857331 | LEP | c.270T>G (p.Pro90=) c.267T>G (p.Pro89=) | |
7 | g.128254530T>A | CA369443842 | LEP | c.271T>A (p.Ser91Thr) c.268T>A (p.Ser90Thr) | |
7 | g.128254530T>C | CA369443843 | LEP | c.271T>C (p.Ser91Pro) c.268T>C (p.Ser90Pro) | |
7 | g.128254530T>G | CA369443844 | LEP | c.271T>G (p.Ser91Ala) c.268T>G (p.Ser90Ala) | |
7 | g.128254531C>A | CA369443845 | LEP | c.272C>A (p.Ser91Tyr) c.269C>A (p.Ser90Tyr) | |
7 | g.128254531C>G | CA369443846 | LEP | c.272C>G (p.Ser91Cys) c.269C>G (p.Ser90Cys) | |
7 | g.128254531C>T | CA369443847 | LEP | c.272C>T (p.Ser91Phe) c.269C>T (p.Ser90Phe) | |
7 | g.128254532C>A | CA457857335 | LEP | c.273C>A (p.Ser91=) c.270C>A (p.Ser90=) | |
7 | g.128254532C>G | CA457857336 | LEP | c.273C>G (p.Ser91=) c.270C>G (p.Ser90=) | |
7 | g.128254532C>T | CA457857338 | LEP | c.273C>T (p.Ser91=) c.270C>T (p.Ser90=) | gnomAD v4 |
7 | g.128254533A= | CA1742271648 | LEP | c.274A= (p.Arg92=) c.271A= (p.Arg91=) | |
7 | g.128254533A>C | CA4469682 | LEP | c.274A>C (p.Arg92=) c.271A>C (p.Arg91=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254533A>G | CA369443848 | LEP | c.274A>G (p.Arg92Gly) c.271A>G (p.Arg91Gly) | dbSNP |
7 | g.128254533A>T | CA369443849 | LEP | c.274A>T (p.Arg92Ter) c.271A>T (p.Arg91Ter) | |
7 | g.128254534G>A | CA369443852 | LEP | c.275G>A (p.Arg92Lys) c.272G>A (p.Arg91Lys) | COSMIC |
7 | g.128254534G>C | CA369443850 | LEP | c.275G>C (p.Arg92Thr) c.272G>C (p.Arg91Thr) | |
7 | g.128254534G>T | CA369443851 | LEP | c.275G>T (p.Arg92Ile) c.272G>T (p.Arg91Ile) | |
7 | g.128254535A= | CA1742271653 | LEP | c.276A= (p.Arg92=) c.273A= (p.Arg91=) | |
7 | g.128254535A>C | CA369443853 | LEP | c.276A>C (p.Arg92Ser) c.273A>C (p.Arg91Ser) | |
7 | g.128254535A>G | CA4469683 | LEP | c.276A>G (p.Arg92=) c.273A>G (p.Arg91=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254535A>T | CA369443854 | LEP | c.276A>T (p.Arg92Ser) c.273A>T (p.Arg91Ser) | |
7 | g.128254536A>C | CA369443855 | LEP | c.277A>C (p.Asn93His) c.274A>C (p.Asn92His) | |
7 | g.128254536A>G | CA369443856 | LEP | c.277A>G (p.Asn93Asp) c.274A>G (p.Asn92Asp) | |
7 | g.128254536A>T | CA369443857 | LEP | c.277A>T (p.Asn93Tyr) c.274A>T (p.Asn92Tyr) | |
7 | g.128254537A>C | CA369443858 | LEP | c.278A>C (p.Asn93Thr) c.275A>C (p.Asn92Thr) | |
7 | g.128254537A>G | CA369443859 | LEP | c.278A>G (p.Asn93Ser) c.275A>G (p.Asn92Ser) | |
7 | g.128254537A>T | CA369443860 | LEP | c.278A>T (p.Asn93Ile) c.275A>T (p.Asn92Ile) | |
7 | g.128254538C>A | CA369443861 | LEP | c.279C>A (p.Asn93Lys) c.276C>A (p.Asn92Lys) | |
7 | g.128254538C= | CA1742271672 | LEP | c.279C= (p.Asn93=) c.276C= (p.Asn92=) | |
7 | g.128254538C>G | CA369443862 | LEP | c.279C>G (p.Asn93Lys) c.276C>G (p.Asn92Lys) | |
7 | g.128254538C>T | CA4469684 | LEP | c.279C>T (p.Asn93=) c.276C>T (p.Asn92=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.128254539G>A | CA4469685 | LEP | c.280G>A (p.Val94Met) c.277G>A (p.Val93Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254539G>C | CA369443864 | LEP | c.280G>C (p.Val94Leu) c.277G>C (p.Val93Leu) | dbSNP |
7 | g.128254539G= | CA1742271676 | LEP | c.280G= (p.Val94=) c.277G= (p.Val93=) | |
7 | g.128254539G>T | CA369443863 | LEP | c.280G>T (p.Val94Leu) c.277G>T (p.Val93Leu) | |
7 | g.128254540T>A | CA369443867 | LEP | c.281T>A (p.Val94Glu) c.278T>A (p.Val93Glu) | |
7 | g.128254540T>C | CA369443865 | LEP | c.281T>C (p.Val94Ala) c.278T>C (p.Val93Ala) | gnomAD v4 |
7 | g.128254540T>G | CA369443866 | LEP | c.281T>G (p.Val94Gly) c.278T>G (p.Val93Gly) | |
7 | g.128254541G>A | CA4469686 | LEP | c.282G>A (p.Val94=) c.279G>A (p.Val93=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128254541G>C | CA457857354 | LEP | c.282G>C (p.Val94=) c.279G>C (p.Val93=) | |
7 | g.128254541G= | CA1742271680 | LEP | c.282G= (p.Val94=) c.279G= (p.Val93=) | |
7 | g.128254541G>T | CA457857353 | LEP | c.282G>T (p.Val94=) c.279G>T (p.Val93=) | |
7 | g.128254542A>C | CA369443868 | LEP | c.283A>C (p.Ile95Leu) c.280A>C (p.Ile94Leu) | |
7 | g.128254542A>G | CA369443869 | LEP | c.283A>G (p.Ile95Val) c.280A>G (p.Ile94Val) | |
7 | g.128254542A>T | CA369443870 | LEP | c.283A>T (p.Ile95Phe) c.280A>T (p.Ile94Phe) | |
7 | g.128254543T>A | CA369443871 | LEP | c.284T>A (p.Ile95Asn) c.281T>A (p.Ile94Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254543T>C | CA369443872 | LEP | c.284T>C (p.Ile95Thr) c.281T>C (p.Ile94Thr) | |
7 | g.128254543T>G | CA369443873 | LEP | c.284T>G (p.Ile95Ser) c.281T>G (p.Ile94Ser) | |
7 | g.128254543T= | CA1742271685 | LEP | c.284T= (p.Ile95=) c.281T= (p.Ile94=) | |
7 | g.128254544C>A | CA166745217 | LEP | c.285C>A (p.Ile95=) c.282C>A (p.Ile94=) | dbSNP gnomAD v4 |
7 | g.128254544C= | CA1742271690 | LEP | c.285C= (p.Ile95=) c.282C= (p.Ile94=) | |
7 | g.128254544C>G | CA369443874 | LEP | c.285C>G (p.Ile95Met) c.282C>G (p.Ile94Met) | |
7 | g.128254544C>T | CA4469687 | LEP | c.285C>T (p.Ile95=) c.282C>T (p.Ile94=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128254545C>A | CA369443877 | LEP | c.286C>A (p.Gln96Lys) c.283C>A (p.Gln95Lys) | |
7 | g.128254545C>G | CA369443875 | LEP | c.286C>G (p.Gln96Glu) c.283C>G (p.Gln95Glu) | |
7 | g.128254545C>T | CA369443876 | LEP | c.286C>T (p.Gln96Ter) c.283C>T (p.Gln95Ter) | |
7 | g.128254546A>C | CA369443878 | LEP | c.287A>C (p.Gln96Pro) c.284A>C (p.Gln95Pro) | |
7 | g.128254546A>G | CA369443879 | LEP | c.287A>G (p.Gln96Arg) c.284A>G (p.Gln95Arg) | |
7 | g.128254546A>T | CA369443880 | LEP | c.287A>T (p.Gln96Leu) c.284A>T (p.Gln95Leu) | |
7 | g.128254547A>C | CA369443881 | LEP | c.288A>C (p.Gln96His) c.285A>C (p.Gln95His) | |
7 | g.128254547A>G | CA457857363 | LEP | c.288A>G (p.Gln96=) c.285A>G (p.Gln95=) | |
7 | g.128254547A>T | CA369443882 | LEP | c.288A>T (p.Gln96His) c.285A>T (p.Gln95His) | |
7 | g.128254548A>C | CA369443883 | LEP | c.289A>C (p.Ile97Leu) c.286A>C (p.Ile96Leu) | |
7 | g.128254548A>G | CA369443884 | LEP | c.289A>G (p.Ile97Val) c.286A>G (p.Ile96Val) | gnomAD v4 |
7 | g.128254548A>T | CA369443885 | LEP | c.289A>T (p.Ile97Leu) c.286A>T (p.Ile96Leu) | |
7 | g.128254549T>A | CA369443886 | LEP | c.290T>A (p.Ile97Lys) c.287T>A (p.Ile96Lys) | |
7 | g.128254549T>C | CA369443887 | LEP | c.290T>C (p.Ile97Thr) c.287T>C (p.Ile96Thr) | gnomAD v4 |
7 | g.128254549T>G | CA369443888 | LEP | c.290T>G (p.Ile97Arg) c.287T>G (p.Ile96Arg) | |
7 | g.128254550A>C | CA457857369 | LEP | c.291A>C (p.Ile97=) c.288A>C (p.Ile96=) | |
7 | g.128254550A>G | CA369443889 | LEP | c.291A>G (p.Ile97Met) c.288A>G (p.Ile96Met) | |
7 | g.128254550A>T | CA457857367 | LEP | c.291A>T (p.Ile97=) c.288A>T (p.Ile96=) | |
7 | g.128254551T>A | CA369443891 | LEP | c.292T>A (p.Ser98Thr) c.289T>A (p.Ser97Thr) | |
7 | g.128254551T>C | CA369443892 | LEP | c.292T>C (p.Ser98Pro) c.289T>C (p.Ser97Pro) | |
7 | g.128254551T>G | CA369443890 | LEP | c.292T>G (p.Ser98Ala) c.289T>G (p.Ser97Ala) | |
7 | g.128254552C>A | CA369443893 | LEP | c.293C>A (p.Ser98Tyr) c.290C>A (p.Ser97Tyr) | |
7 | g.128254552C>G | CA369443894 | LEP | c.293C>G (p.Ser98Cys) c.290C>G (p.Ser97Cys) | gnomAD v4 |
7 | g.128254552C>T | CA369443895 | LEP | c.293C>T (p.Ser98Phe) c.290C>T (p.Ser97Phe) | |
7 | g.128254553C>A | CA457857372 | LEP | c.294C>A (p.Ser98=) c.291C>A (p.Ser97=) | |
7 | g.128254553C= | CA1742271698 | LEP | c.294C= (p.Ser98=) c.291C= (p.Ser97=) | |
7 | g.128254553C>G | CA457857374 | LEP | c.294C>G (p.Ser98=) c.291C>G (p.Ser97=) | |
7 | g.128254553C>T | CA4469688 | LEP | c.294C>T (p.Ser98=) c.291C>T (p.Ser97=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254554A>C | CA369443896 | LEP | c.295A>C (p.Asn99His) c.292A>C (p.Asn98His) | gnomAD v4 |
7 | g.128254554A>G | CA369443897 | LEP | c.295A>G (p.Asn99Asp) c.292A>G (p.Asn98Asp) | |
7 | g.128254554A>T | CA369443898 | LEP | c.295A>T (p.Asn99Tyr) c.292A>T (p.Asn98Tyr) | |
7 | g.128254555A>C | CA369443899 | LEP | c.296A>C (p.Asn99Thr) c.293A>C (p.Asn98Thr) | |
7 | g.128254555A>G | CA369443900 | LEP | c.296A>G (p.Asn99Ser) c.293A>G (p.Asn98Ser) | |
7 | g.128254555A>T | CA369443901 | LEP | c.296A>T (p.Asn99Ile) c.293A>T (p.Asn98Ile) | |
7 | g.128254556C>A | CA369443902 | LEP | c.297C>A (p.Asn99Lys) c.294C>A (p.Asn98Lys) | gnomAD v4 |
7 | g.128254556C= | CA1742271701 | LEP | c.297C= (p.Asn99=) c.294C= (p.Asn98=) | |
7 | g.128254556C>G | CA369443903 | LEP | c.297C>G (p.Asn99Lys) c.294C>G (p.Asn98Lys) | |
7 | g.128254556C>T | CA4469689 | LEP | c.297C>T (p.Asn99=) c.294C>T (p.Asn98=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254557G>A | CA4469690 | LEP | c.298G>A (p.Asp100Asn) c.295G>A (p.Asp99Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.128254557G>C | CA369443904 | LEP | c.298G>C (p.Asp100His) c.295G>C (p.Asp99His) | |
7 | g.128254557G= | CA1742271705 | LEP | c.298G= (p.Asp100=) c.295G= (p.Asp99=) | |
7 | g.128254557G>T | CA175034 | LEP | c.298G>T (p.Asp100Tyr) c.295G>T (p.Asp99Tyr) | ClinVar dbSNP |
7 | g.128254558A= | CA1742271707 | LEP | c.299A= (p.Asp100=) c.296A= (p.Asp99=) | |
7 | g.128254558A>C | CA369443905 | LEP | c.299A>C (p.Asp100Ala) c.296A>C (p.Asp99Ala) | |
7 | g.128254558A>G | CA369443906 | LEP | c.299A>G (p.Asp100Gly) c.296A>G (p.Asp99Gly) | dbSNP |
7 | g.128254558A>T | CA369443907 | LEP | c.299A>T (p.Asp100Val) c.296A>T (p.Asp99Val) | |
7 | g.128254559C>A | CA369443908 | LEP | c.300C>A (p.Asp100Glu) c.297C>A (p.Asp99Glu) | |
7 | g.128254559C>G | CA369443909 | LEP | c.300C>G (p.Asp100Glu) c.297C>G (p.Asp99Glu) | |
7 | g.128254559C>T | CA457857380 | LEP | c.300C>T (p.Asp100=) c.297C>T (p.Asp99=) | |
7 | g.128254560C>A | CA369443910 | LEP | c.301C>A (p.Leu101Met) c.298C>A (p.Leu100Met) | |
7 | g.128254560C>G | CA369443911 | LEP | c.301C>G (p.Leu101Val) c.298C>G (p.Leu100Val) | gnomAD v4 |
7 | g.128254560C>T | CA457857381 | LEP | c.301C>T (p.Leu101=) c.298C>T (p.Leu100=) | |
7 | g.128254561T>A | CA369443912 | LEP | c.302T>A (p.Leu101Gln) c.299T>A (p.Leu100Gln) | |
7 | g.128254561T>C | CA369443913 | LEP | c.302T>C (p.Leu101Pro) c.299T>C (p.Leu100Pro) | |
7 | g.128254561T>G | CA369443914 | LEP | c.302T>G (p.Leu101Arg) c.299T>G (p.Leu100Arg) | |
7 | g.128254562G>A | CA457857383 | LEP | c.303G>A (p.Leu101=) c.300G>A (p.Leu100=) | COSMIC |
7 | g.128254562G>C | CA457857384 | LEP | c.303G>C (p.Leu101=) c.300G>C (p.Leu100=) | |
7 | g.128254562G>T | CA457857385 | LEP | c.303G>T (p.Leu101=) c.300G>T (p.Leu100=) | |
7 | g.128254563G>A | CA369443915 | LEP | c.304G>A (p.Glu102Lys) c.301G>A (p.Glu101Lys) | |
7 | g.128254563G>C | CA369443916 | LEP | c.304G>C (p.Glu102Gln) c.301G>C (p.Glu101Gln) | |
7 | g.128254563G>T | CA369443917 | LEP | c.304G>T (p.Glu102Ter) c.301G>T (p.Glu101Ter) | |
7 | g.128254564A>C | CA369443920 | LEP | c.305A>C (p.Glu102Ala) c.302A>C (p.Glu101Ala) | |
7 | g.128254564A>G | CA369443919 | LEP | c.305A>G (p.Glu102Gly) c.302A>G (p.Glu101Gly) | |
7 | g.128254564A>T | CA369443918 | LEP | c.305A>T (p.Glu102Val) c.302A>T (p.Glu101Val) | |
7 | g.128254565G>A | CA4469691 | LEP | c.306G>A (p.Glu102=) c.303G>A (p.Glu101=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254565G>C | CA369443922 | LEP | c.306G>C (p.Glu102Asp) c.303G>C (p.Glu101Asp) | gnomAD v4 |
7 | g.128254565G= | CA1742271710 | LEP | c.306G= (p.Glu102=) c.303G= (p.Glu101=) | |
7 | g.128254565G>T | CA369443921 | LEP | c.306G>T (p.Glu102Asp) c.303G>T (p.Glu101Asp) | |
7 | g.128254566A>C | CA369443923 | LEP | c.307A>C (p.Asn103His) c.304A>C (p.Asn102His) | |
7 | g.128254566A>G | CA369443925 | LEP | c.307A>G (p.Asn103Asp) c.304A>G (p.Asn102Asp) | |
7 | g.128254566A>T | CA369443924 | LEP | c.307A>T (p.Asn103Tyr) c.304A>T (p.Asn102Tyr) | |
7 | g.128254567A= | CA1742271715 | LEP | c.308A= (p.Asn103=) c.305A= (p.Asn102=) | |
7 | g.128254567A>C | CA369443926 | LEP | c.308A>C (p.Asn103Thr) c.305A>C (p.Asn102Thr) | dbSNP |
7 | g.128254567A>G | CA369443927 | LEP | c.308A>G (p.Asn103Ser) c.305A>G (p.Asn102Ser) | |
7 | g.128254567A>T | CA369443928 | LEP | c.308A>T (p.Asn103Ile) c.305A>T (p.Asn102Ile) | |
7 | g.128254568C>A | CA4469693 | LEP | c.309C>A (p.Asn103Lys) c.306C>A (p.Asn102Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254568C= | CA1742271725 | LEP | c.309C= (p.Asn103=) c.306C= (p.Asn102=) | |
7 | g.128254568C>G | CA166745227 | LEP | c.309C>G (p.Asn103Lys) c.306C>G (p.Asn102Lys) | |
7 | g.128254568C>T | CA4469692 | LEP | c.309C>T (p.Asn103=) c.306C>T (p.Asn102=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254569C>A | CA369443929 | LEP | c.310C>A (p.Leu104Ile) c.307C>A (p.Leu103Ile) | |
7 | g.128254569C>G | CA369443930 | LEP | c.310C>G (p.Leu104Val) c.307C>G (p.Leu103Val) | |
7 | g.128254569C>T | CA369443931 | LEP | c.310C>T (p.Leu104Phe) c.307C>T (p.Leu103Phe) | gnomAD v4 |
7 | g.128254570T>A | CA369443932 | LEP | c.311T>A (p.Leu104His) c.308T>A (p.Leu103His) | |
7 | g.128254570T>C | CA369443933 | LEP | c.311T>C (p.Leu104Pro) c.308T>C (p.Leu103Pro) | |
7 | g.128254570T>G | CA369443934 | LEP | c.311T>G (p.Leu104Arg) c.308T>G (p.Leu103Arg) | |
7 | g.128254571C>A | CA457857390 | LEP | c.312C>A (p.Leu104=) c.309C>A (p.Leu103=) | |
7 | g.128254571C>G | CA457857391 | LEP | c.312C>G (p.Leu104=) c.309C>G (p.Leu103=) | |
7 | g.128254571C>T | CA457857392 | LEP | c.312C>T (p.Leu104=) c.309C>T (p.Leu103=) | |
7 | g.128254572C>A | CA457857393 | LEP | c.313C>A (p.Arg105=) c.310C>A (p.Arg104=) | COSMIC |
7 | g.128254572C= | CA1742271740 | LEP | c.313C= (p.Arg105=) c.310C= (p.Arg104=) | |
7 | g.128254572C>G | CA369443935 | LEP | c.313C>G (p.Arg105Gly) c.310C>G (p.Arg104Gly) | |
7 | g.128254572C>T | CA123668 | LEP | c.313C>T (p.Arg105Trp) c.310C>T (p.Arg104Trp) | ClinVar dbSNP gnomAD v4 |
7 | g.128254573G>A | CA369443936 | LEP | c.314G>A (p.Arg105Gln) c.311G>A (p.Arg104Gln) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.128254573G>C | CA369443937 | LEP | c.314G>C (p.Arg105Pro) c.311G>C (p.Arg104Pro) | |
7 | g.128254573G= | CA1742271745 | LEP | c.314G= (p.Arg105=) c.311G= (p.Arg104=) | |
7 | g.128254573G>T | CA369443938 | LEP | c.314G>T (p.Arg105Leu) c.311G>T (p.Arg104Leu) | |
7 | g.128254574G>A | CA166745232 | LEP | c.315G>A (p.Arg105=) c.312G>A (p.Arg104=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128254574G>C | CA457857394 | LEP | c.315G>C (p.Arg105=) c.312G>C (p.Arg104=) | |
7 | g.128254574G= | CA1742271751 | LEP | c.315G= (p.Arg105=) c.312G= (p.Arg104=) | |
7 | g.128254574G>T | CA4469694 | LEP | c.315G>T (p.Arg105=) c.312G>T (p.Arg104=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128254575G>A | CA369443939 | LEP | c.316G>A (p.Asp106Asn) c.313G>A (p.Asp105Asn) | gnomAD v4 |
7 | g.128254575G>C | CA369443940 | LEP | c.316G>C (p.Asp106His) c.313G>C (p.Asp105His) | |
7 | g.128254575G>T | CA369443941 | LEP | c.316G>T (p.Asp106Tyr) c.313G>T (p.Asp105Tyr) | |
7 | g.128254576A>C | CA369443942 | LEP | c.317A>C (p.Asp106Ala) c.314A>C (p.Asp105Ala) | |
7 | g.128254576A>G | CA369443943 | LEP | c.317A>G (p.Asp106Gly) c.314A>G (p.Asp105Gly) | |
7 | g.128254576A>T | CA369443944 | LEP | c.317A>T (p.Asp106Val) c.314A>T (p.Asp105Val) | gnomAD v4 |
7 | g.128254577T>A | CA369443946 | LEP | c.318T>A (p.Asp106Glu) c.315T>A (p.Asp105Glu) | |
7 | g.128254577T>C | CA457857395 | LEP | c.318T>C (p.Asp106=) c.315T>C (p.Asp105=) | dbSNP |
7 | g.128254577T>G | CA369443945 | LEP | c.318T>G (p.Asp106Glu) c.315T>G (p.Asp105Glu) | |
7 | g.128254578C>A | CA369443947 | LEP | c.319C>A (p.Leu107Ile) c.316C>A (p.Leu106Ile) | |
7 | g.128254578C= | CA1742271753 | LEP | c.319C= (p.Leu107=) c.316C= (p.Leu106=) | |
7 | g.128254578C>G | CA4469695 | LEP | c.319C>G (p.Leu107Val) c.316C>G (p.Leu106Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128254578C>T | CA369443948 | LEP | c.319C>T (p.Leu107Phe) c.316C>T (p.Leu106Phe) | dbSNP gnomAD v4 |