| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209632739G>A | CA1375877 | LAMB3 | c.666C>T (p.Thr222=) c.474C>T (p.Thr158=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209632739G>C | CA423032689 | LAMB3 | c.666C>G (p.Thr222=) c.474C>G (p.Thr158=) | |
| 1 | g.209632739G= | CA1148427641 | LAMB3 | c.666C= (p.Thr222=) c.474C= (p.Thr158=) | |
| 1 | g.209632739G>T | CA423032688 | LAMB3 | c.666C>A (p.Thr222=) c.474C>A (p.Thr158=) | |
| 1 | g.209632740G>A | CA344594770 | LAMB3 | c.665C>T (p.Thr222Ile) c.473C>T (p.Thr158Ile) | gnomAD v4 |
| 1 | g.209632740G>C | CA344594771 | LAMB3 | c.665C>G (p.Thr222Ser) c.473C>G (p.Thr158Ser) | |
| 1 | g.209632740G>T | CA344594772 | LAMB3 | c.665C>A (p.Thr222Asn) c.473C>A (p.Thr158Asn) | |
| 1 | g.209632741T>A | CA344594774 | LAMB3 | c.664A>T (p.Thr222Ser) c.472A>T (p.Thr158Ser) | gnomAD v4 |
| 1 | g.209632741T>C | CA344594775 | LAMB3 | c.664A>G (p.Thr222Ala) c.472A>G (p.Thr158Ala) | |
| 1 | g.209632741T>G | CA344594773 | LAMB3 | c.664A>C (p.Thr222Pro) c.472A>C (p.Thr158Pro) | |
| 1 | g.209632742G>A | CA423032690 | LAMB3 | c.663C>T (p.Phe221=) c.471C>T (p.Phe157=) | |
| 1 | g.209632742G>C | CA344594776 | LAMB3 | c.663C>G (p.Phe221Leu) c.471C>G (p.Phe157Leu) | |
| 1 | g.209632742G>T | CA344594777 | LAMB3 | c.663C>A (p.Phe221Leu) c.471C>A (p.Phe157Leu) | |
| 1 | g.209632743A>C | CA344594778 | LAMB3 | c.662T>G (p.Phe221Cys) c.470T>G (p.Phe157Cys) | |
| 1 | g.209632743A>G | CA344594779 | LAMB3 | c.662T>C (p.Phe221Ser) c.470T>C (p.Phe157Ser) | |
| 1 | g.209632743A>T | CA344594780 | LAMB3 | c.662T>A (p.Phe221Tyr) c.470T>A (p.Phe157Tyr) | |
| 1 | g.209632744A>C | CA344594783 | LAMB3 | c.661T>G (p.Phe221Val) c.469T>G (p.Phe157Val) | |
| 1 | g.209632744A>G | CA344594781 | LAMB3 | c.661T>C (p.Phe221Leu) c.469T>C (p.Phe157Leu) | |
| 1 | g.209632744A>T | CA344594782 | LAMB3 | c.661T>A (p.Phe221Ile) c.469T>A (p.Phe157Ile) | |
| 1 | g.209632745A>C | CA344594784 | LAMB3 | c.660T>G (p.Asn220Lys) c.468T>G (p.Asn156Lys) | |
| 1 | g.209632745A>G | CA423032691 | LAMB3 | c.660T>C (p.Asn220=) c.468T>C (p.Asn156=) | |
| 1 | g.209632745A>T | CA344594785 | LAMB3 | c.660T>A (p.Asn220Lys) c.468T>A (p.Asn156Lys) | |
| 1 | g.209632746T>A | CA344594786 | LAMB3 | c.659A>T (p.Asn220Ile) c.467A>T (p.Asn156Ile) | |
| 1 | g.209632746T>C | CA344594787 | LAMB3 | c.659A>G (p.Asn220Ser) c.467A>G (p.Asn156Ser) | gnomAD v4 |
| 1 | g.209632746T>G | CA344594788 | LAMB3 | c.659A>C (p.Asn220Thr) c.467A>C (p.Asn156Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209632746T= | CA2484302019 | LAMB3 | c.659A= (p.Asn220=) c.467A= (p.Asn156=) | |
| 1 | g.209632747T>A | CA344594791 | LAMB3 | c.658A>T (p.Asn220Tyr) c.466A>T (p.Asn156Tyr) | |
| 1 | g.209632747T>C | CA344594790 | LAMB3 | c.658A>G (p.Asn220Asp) c.466A>G (p.Asn156Asp) | |
| 1 | g.209632747T>G | CA344594789 | LAMB3 | c.658A>C (p.Asn220His) c.466A>C (p.Asn156His) | |
| 1 | g.209632748G>A | CA423032692 | LAMB3 | c.657C>T (p.Val219=) c.465C>T (p.Val155=) | |
| 1 | g.209632748G>C | CA423032693 | LAMB3 | c.657C>G (p.Val219=) c.465C>G (p.Val155=) | |
| 1 | g.209632748G>T | CA423032694 | LAMB3 | c.657C>A (p.Val219=) c.465C>A (p.Val155=) | |
| 1 | g.209632749A>C | CA344594792 | LAMB3 | c.656T>G (p.Val219Gly) c.464T>G (p.Val155Gly) | |
| 1 | g.209632749A>G | CA344594793 | LAMB3 | c.656T>C (p.Val219Ala) c.464T>C (p.Val155Ala) | |
| 1 | g.209632749A>T | CA344594794 | LAMB3 | c.656T>A (p.Val219Asp) c.464T>A (p.Val155Asp) | |
| 1 | g.209632749_209632750delinsAC | CA2484302020 | LAMB3 | c.655_656delinsGT (p.Val219=) c.463_464delinsGT (p.Val155=) | |
| 1 | g.209632749_209632750delinsGA | CA2484302021 | LAMB3 | c.655_656delinsTC (p.Val219Ser) c.463_464delinsTC (p.Val155Ser) | ClinVar dbSNP |
| 1 | g.209632750C>A | CA344594795 | LAMB3 | c.655G>T (p.Val219Phe) c.463G>T (p.Val155Phe) | |
| 1 | g.209632750C= | CA2484302022 | LAMB3 | c.655G= (p.Val219=) c.463G= (p.Val155=) | |
| 1 | g.209632750C>G | CA344594796 | LAMB3 | c.655G>C (p.Val219Leu) c.463G>C (p.Val155Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209632750C>T | CA344594797 | LAMB3 | c.655G>A (p.Val219Ile) c.463G>A (p.Val155Ile) | |
| 1 | g.209632751T>A | CA344594798 | LAMB3 | c.654A>T (p.Arg218Ser) c.462A>T (p.Arg154Ser) | |
| 1 | g.209632751T>C | CA423032695 | LAMB3 | c.654A>G (p.Arg218=) c.462A>G (p.Arg154=) | |
| 1 | g.209632751T>G | CA344594799 | LAMB3 | c.654A>C (p.Arg218Ser) c.462A>C (p.Arg154Ser) | |
| 1 | g.209632752C>A | CA344594800 | LAMB3 | c.653G>T (p.Arg218Ile) c.461G>T (p.Arg154Ile) | gnomAD v4 |
| 1 | g.209632752C= | CA2484302023 | LAMB3 | c.653G= (p.Arg218=) c.461G= (p.Arg154=) | |
| 1 | g.209632752C>G | CA1375878 | LAMB3 | c.653G>C (p.Arg218Thr) c.461G>C (p.Arg154Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209632752C>T | CA1375879 | LAMB3 | c.653G>A (p.Arg218Lys) c.461G>A (p.Arg154Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209632753T>A | CA344594801 | LAMB3 | c.652A>T (p.Arg218Ter) c.460A>T (p.Arg154Ter) | |
| 1 | g.209632753T>C | CA344594802 | LAMB3 | c.652A>G (p.Arg218Gly) c.460A>G (p.Arg154Gly) | |
| 1 | g.209632753T>G | CA423032696 | LAMB3 | c.652A>C (p.Arg218=) c.460A>C (p.Arg154=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209632753T= | CA2484302024 | LAMB3 | c.652A= (p.Arg218=) c.460A= (p.Arg154=) | |
| 1 | g.209632754C>A | CA1375880 | LAMB3 | c.651G>T (p.Leu217Phe) c.459G>T (p.Leu153Phe) | dbSNP ExAC gnomAD v2 |
| 1 | g.209632754C= | CA1143663700 | LAMB3 | c.651G= (p.Leu217=) c.459G= (p.Leu153=) | |
| 1 | g.209632754C>G | CA344594803 | LAMB3 | c.651G>C (p.Leu217Phe) c.459G>C (p.Leu153Phe) | |
| 1 | g.209632754C>T | CA423032697 | LAMB3 | c.651G>A (p.Leu217=) c.459G>A (p.Leu153=) | gnomAD v4 |
| 1 | g.209632755A= | CA2484302025 | LAMB3 | c.650T= (p.Leu217=) c.458T= (p.Leu153=) | |
| 1 | g.209632755A>C | CA344594805 | LAMB3 | c.650T>G (p.Leu217Trp) c.458T>G (p.Leu153Trp) | gnomAD v4 |
| 1 | g.209632755A>G | CA1375881 | LAMB3 | c.650T>C (p.Leu217Ser) c.458T>C (p.Leu153Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209632755A>T | CA344594804 | LAMB3 | c.650T>A (p.Leu217Ter) c.458T>A (p.Leu153Ter) | |
| 1 | g.209632756A= | CA2484302026 | LAMB3 | c.649T= (p.Leu217=) c.457T= (p.Leu153=) | |
| 1 | g.209632756A>C | CA344594806 | LAMB3 | c.649T>G (p.Leu217Val) c.457T>G (p.Leu153Val) | |
| 1 | g.209632756A>G | CA423032698 | LAMB3 | c.649T>C (p.Leu217=) c.457T>C (p.Leu153=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209632756A>T | CA344594807 | LAMB3 | c.649T>A (p.Leu217Met) c.457T>A (p.Leu153Met) | |
| 1 | g.209632757G>A | CA423032699 | LAMB3 | c.648C>T (p.Asn216=) c.456C>T (p.Asn152=) | |
| 1 | g.209632757G>C | CA344594808 | LAMB3 | c.648C>G (p.Asn216Lys) c.456C>G (p.Asn152Lys) | |
| 1 | g.209632757G>T | CA344594809 | LAMB3 | c.648C>A (p.Asn216Lys) c.456C>A (p.Asn152Lys) | |
| 1 | g.209632758T>A | CA344594810 | LAMB3 | c.647A>T (p.Asn216Ile) c.455A>T (p.Asn152Ile) | |
| 1 | g.209632758T>C | CA344594811 | LAMB3 | c.647A>G (p.Asn216Ser) c.455A>G (p.Asn152Ser) | |
| 1 | g.209632758T>G | CA344594812 | LAMB3 | c.647A>C (p.Asn216Thr) c.455A>C (p.Asn152Thr) | |
| 1 | g.209632760del | CA2586967989 | LAMB3 | c.647del (p.Asn216ThrfsTer2) c.455del (p.Asn152ThrfsTer2) | |
| 1 | g.209632759T>A | CA344594813 | LAMB3 | c.646A>T (p.Asn216Tyr) c.454A>T (p.Asn152Tyr) | |
| 1 | g.209632759T>C | CA344594814 | LAMB3 | c.646A>G (p.Asn216Asp) c.454A>G (p.Asn152Asp) | gnomAD v4 |
| 1 | g.209632759T>G | CA344594815 | LAMB3 | c.646A>C (p.Asn216His) c.454A>C (p.Asn152His) | |
| 1 | g.209632760T>A | CA423032700 | LAMB3 | c.645A>T (p.Thr215=) c.453A>T (p.Thr151=) | |
| 1 | g.209632760T>C | CA423032702 | LAMB3 | c.645A>G (p.Thr215=) c.453A>G (p.Thr151=) | |
| 1 | g.209632760T>G | CA423032701 | LAMB3 | c.645A>C (p.Thr215=) c.453A>C (p.Thr151=) | |
| 1 | g.209632761G>A | CA344594816 | LAMB3 | c.644C>T (p.Thr215Ile) c.452C>T (p.Thr151Ile) | dbSNP gnomAD v4 |
| 1 | g.209632761G>C | CA344594817 | LAMB3 | c.644C>G (p.Thr215Arg) c.452C>G (p.Thr151Arg) | |
| 1 | g.209632761G= | CA2484302027 | LAMB3 | c.644C= (p.Thr215=) c.452C= (p.Thr151=) | |
| 1 | g.209632761G>T | CA344594818 | LAMB3 | c.644C>A (p.Thr215Lys) c.452C>A (p.Thr151Lys) | |
| 1 | g.209632761_209632762delinsGT | CA2484302028 | LAMB3 | c.643_644delinsAC (p.Thr215=) c.451_452delinsAC (p.Thr151=) | |
| 1 | g.209632762del | CA2484302029 | LAMB3 | c.643del (p.Thr215GlnfsTer3) c.451del (p.Thr151GlnfsTer3) | dbSNP gnomAD v4 |
| 1 | g.209632762T>A | CA344594819 | LAMB3 | c.643A>T (p.Thr215Ser) c.451A>T (p.Thr151Ser) | |
| 1 | g.209632762T>C | CA344594821 | LAMB3 | c.643A>G (p.Thr215Ala) c.451A>G (p.Thr151Ala) | |
| 1 | g.209632762T>G | CA344594820 | LAMB3 | c.643A>C (p.Thr215Pro) c.451A>C (p.Thr151Pro) | |
| 1 | g.209632763G>A | CA1375882 | LAMB3 | c.642C>T (p.Ile214=) c.450C>T (p.Ile150=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209632763G>C | CA344594822 | LAMB3 | c.642C>G (p.Ile214Met) c.450C>G (p.Ile150Met) | |
| 1 | g.209632763G= | CA2484302030 | LAMB3 | c.642C= (p.Ile214=) c.450C= (p.Ile150=) | |
| 1 | g.209632763G>T | CA423032703 | LAMB3 | c.642C>A (p.Ile214=) c.450C>A (p.Ile150=) | |
| 1 | g.209632764A= | CA1143887063 | LAMB3 | c.641T= (p.Ile214=) c.449T= (p.Ile150=) | |
| 1 | g.209632764A>C | CA344594823 | LAMB3 | c.641T>G (p.Ile214Ser) c.449T>G (p.Ile150Ser) | |
| 1 | g.209632764A>G | CA1375883 | LAMB3 | c.641T>C (p.Ile214Thr) c.449T>C (p.Ile150Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209632764A>T | CA344594824 | LAMB3 | c.641T>A (p.Ile214Asn) c.449T>A (p.Ile150Asn) | |
| 1 | g.209632765T>A | CA344594825 | LAMB3 | c.640A>T (p.Ile214Phe) c.448A>T (p.Ile150Phe) | |
| 1 | g.209632765T>C | CA344594826 | LAMB3 | c.640A>G (p.Ile214Val) c.448A>G (p.Ile150Val) | dbSNP gnomAD v4 |
| 1 | g.209632765T>G | CA344594827 | LAMB3 | c.640A>C (p.Ile214Leu) c.448A>C (p.Ile150Leu) | |
| 1 | g.209632765T= | CA2484302031 | LAMB3 | c.640A= (p.Ile214=) c.448A= (p.Ile150=) | |
| 1 | g.209632766C>A | CA344594828 | LAMB3 | c.639G>T (p.Glu213Asp) c.447G>T (p.Glu149Asp) | |
| 1 | g.209632766C= | CA2484302032 | LAMB3 | c.639G= (p.Glu213=) c.447G= (p.Glu149=) | |
| 1 | g.209632766C>G | CA344594829 | LAMB3 | c.639G>C (p.Glu213Asp) c.447G>C (p.Glu149Asp) | |
| 1 | g.209632766C>T | CA423032704 | LAMB3 | c.639G>A (p.Glu213=) c.447G>A (p.Glu149=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209632767T>A | CA344594830 | LAMB3 | c.638A>T (p.Glu213Val) c.446A>T (p.Glu149Val) | |
| 1 | g.209632767T>C | CA344594831 | LAMB3 | c.638A>G (p.Glu213Gly) c.446A>G (p.Glu149Gly) | |
| 1 | g.209632767T>G | CA344594832 | LAMB3 | c.638A>C (p.Glu213Ala) c.446A>C (p.Glu149Ala) | |
| 1 | g.209632768C>A | CA344594835 | LAMB3 | c.637G>T (p.Glu213Ter) c.445G>T (p.Glu149Ter) | |
| 1 | g.209632768C>G | CA344594833 | LAMB3 | c.637G>C (p.Glu213Gln) c.445G>C (p.Glu149Gln) | |
| 1 | g.209632768C>T | CA344594834 | LAMB3 | c.637G>A (p.Glu213Lys) c.445G>A (p.Glu149Lys) | gnomAD v4 |
| 1 | g.209632772del | CA2574124566 | LAMB3 | c.637del (p.Glu213ArgfsTer5) c.445del (p.Glu149ArgfsTer5) | |
| 1 | g.209632769C>A | CA423032710 | LAMB3 | c.636G>T (p.Gly212=) c.444G>T (p.Gly148=) | |
| 1 | g.209632769C>G | CA423032711 | LAMB3 | c.636G>C (p.Gly212=) c.444G>C (p.Gly148=) | |
| 1 | g.209632769C>T | CA423032712 | LAMB3 | c.636G>A (p.Gly212=) c.444G>A (p.Gly148=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209632770C>A | CA344594836 | LAMB3 | c.635G>T (p.Gly212Val) c.443G>T (p.Gly148Val) | |
| 1 | g.209632770C= | CA2484302033 | LAMB3 | c.635G= (p.Gly212=) c.443G= (p.Gly148=) | |
| 1 | g.209632770C>G | CA1375884 | LAMB3 | c.635G>C (p.Gly212Ala) c.443G>C (p.Gly148Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209632770C>T | CA344594837 | LAMB3 | c.635G>A (p.Gly212Glu) c.443G>A (p.Gly148Glu) | gnomAD v4 |
| 1 | g.209632771C>A | CA344594838 | LAMB3 | c.634G>T (p.Gly212Trp) c.442G>T (p.Gly148Trp) | |
| 1 | g.209632771C= | CA2484302034 | LAMB3 | c.634G= (p.Gly212=) c.442G= (p.Gly148=) | |
| 1 | g.209632771C>G | CA344594839 | LAMB3 | c.634G>C (p.Gly212Arg) c.442G>C (p.Gly148Arg) | gnomAD v4 |
| 1 | g.209632771C>T | CA344594840 | LAMB3 | c.634G>A (p.Gly212Arg) c.442G>A (p.Gly148Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209632772C>A | CA423032713 | LAMB3 | c.633G>T (p.Val211=) c.441G>T (p.Val147=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209632772C= | CA2484302035 | LAMB3 | c.633G= (p.Val211=) c.441G= (p.Val147=) | |
| 1 | g.209632772C>G | CA423032714 | LAMB3 | c.633G>C (p.Val211=) c.441G>C (p.Val147=) | gnomAD v4 |
| 1 | g.209632772C>T | CA423032715 | LAMB3 | c.633G>A (p.Val211=) c.441G>A (p.Val147=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209632773A>C | CA344594841 | LAMB3 | c.632T>G (p.Val211Gly) c.440T>G (p.Val147Gly) | gnomAD v4 |
| 1 | g.209632773A>G | CA344594842 | LAMB3 | c.632T>C (p.Val211Ala) c.440T>C (p.Val147Ala) | |
| 1 | g.209632773A>T | CA344594843 | LAMB3 | c.632T>A (p.Val211Glu) c.440T>A (p.Val147Glu) | |
| 1 | g.209632774C>A | CA344594844 | LAMB3 | c.631G>T (p.Val211Leu) c.439G>T (p.Val147Leu) | |
| 1 | g.209632774C>G | CA344594845 | LAMB3 | c.631G>C (p.Val211Leu) c.439G>C (p.Val147Leu) | dbSNP |
| 1 | g.209632774C>T | CA344594846 | LAMB3 | c.631G>A (p.Val211Met) c.439G>A (p.Val147Met) | |
| 1 | g.209632775C>A | CA344594848 | LAMB3 | c.630G>T (p.Glu210Asp) c.438G>T (p.Glu146Asp) | dbSNP gnomAD v4 |
| 1 | g.209632775C= | CA2484302036 | LAMB3 | c.630G= (p.Glu210=) c.438G= (p.Glu146=) | |
| 1 | g.209632775C>G | CA344594847 | LAMB3 | c.630G>C (p.Glu210Asp) c.438G>C (p.Glu146Asp) | |
| 1 | g.209632775C>T | CA1375885 | LAMB3 | c.630G>A (p.Glu210=) c.438G>A (p.Glu146=) | dbSNP ExAC gnomAD v2 |
| 1 | g.209632776T>A | CA344594849 | LAMB3 | c.629A>T (p.Glu210Val) c.437A>T (p.Glu146Val) | |
| 1 | g.209632776T>C | CA1375886 | LAMB3 | c.629A>G (p.Glu210Gly) c.437A>G (p.Glu146Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209632776T>G | CA344594850 | LAMB3 | c.629A>C (p.Glu210Ala) c.437A>C (p.Glu146Ala) | |
| 1 | g.209632776T= | CA2484302037 | LAMB3 | c.629A= (p.Glu210=) c.437A= (p.Glu146=) | |
| 1 | g.209632777C>A | CA344594851 | LAMB3 | c.629-1G>T (n.629-1G>T) c.437-1G>T (n.437-1G>T) | |
| 1 | g.209632777C= | CA1148224946 | LAMB3 | c.629-1G= (n.629-1G=) c.437-1G= (n.437-1G=) | |
| 1 | g.209632777C>G | CA344594852 | LAMB3 | c.629-1G>C (n.629-1G>C) c.437-1G>C (n.437-1G>C) | |
| 1 | g.209632777C>T | CA257288 | LAMB3 | c.629-1G>A (n.629-1G>A) c.437-1G>A (n.437-1G>A) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209632778T>A | CA344594853 | LAMB3 | c.629-2A>T (n.629-2A>T) c.437-2A>T (n.437-2A>T) | |
| 1 | g.209632778T>C | CA344594854 | LAMB3 | c.629-2A>G (n.629-2A>G) c.437-2A>G (n.437-2A>G) | |
| 1 | g.209632778T>G | CA344594855 | LAMB3 | c.629-2A>C (n.629-2A>C) c.437-2A>C (n.437-2A>C) | |
| 1 | g.209632780A>G | CA2650322169 | LAMB3 | c.629-4T>C (n.629-4T>C) c.437-4T>C (n.437-4T>C) | gnomAD v4 |
| 1 | g.209632781G>C | CA1375887 | LAMB3 | c.629-5C>G (n.629-5C>G) c.437-5C>G (n.437-5C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209632781G= | CA1144087702 | LAMB3 | c.629-5C= (n.629-5C=) c.437-5C= (n.437-5C=) | |
| 1 | g.209632781G>T | CA2650322170 | LAMB3 | c.629-5C>A (n.629-5C>A) c.437-5C>A (n.437-5C>A) | ClinVar gnomAD v4 |
| 1 | g.209632784G>A | CA2650322171 | LAMB3 | c.629-8C>T (n.629-8C>T) c.437-8C>T (n.437-8C>T) | gnomAD v4 |
| 1 | g.209632785G>A | CA36759770 | LAMB3 | c.629-9C>T (n.629-9C>T) c.437-9C>T (n.437-9C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209632785G= | CA2484302038 | LAMB3 | c.629-9C= (n.629-9C=) c.437-9C= (n.437-9C=) | |
| 1 | g.209632785G>T | CA2650322172 | LAMB3 | c.629-9C>A (n.629-9C>A) c.437-9C>A (n.437-9C>A) | gnomAD v4 |
| 1 | g.209632786C>A | CA528652928 | LAMB3 | c.629-10G>T (n.629-10G>T) c.437-10G>T (n.437-10G>T) | ClinVar dbSNP gnomAD v2 |
| 1 | g.209632786C= | CA2484302039 | LAMB3 | c.629-10G= (n.629-10G=) c.437-10G= (n.437-10G=) | |
| 1 | g.209632787C>A | CA2484302041 | LAMB3 | c.629-11G>T (n.629-11G>T) c.437-11G>T (n.437-11G>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209632787C= | CA2484302040 | LAMB3 | c.629-11G= (n.629-11G=) c.437-11G= (n.437-11G=) | |
| 1 | g.209632787C>G | CA2650322173 | LAMB3 | c.629-11G>C (n.629-11G>C) c.437-11G>C (n.437-11G>C) | gnomAD v4 |
| 1 | g.209632788A= | CA2484302042 | LAMB3 | c.629-12T= (n.629-12T=) c.437-12T= (n.437-12T=) | |
| 1 | g.209632788A>T | CA1375888 | LAMB3 | c.629-12T>A (n.629-12T>A) c.437-12T>A (n.437-12T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209632791C>G | CA2650322174 | LAMB3 | c.629-15G>C (n.629-15G>C) c.437-15G>C (n.437-15G>C) | gnomAD v4 |
| 1 | g.209632793G>A | CA730835697 | LAMB3 | c.629-17C>T (n.629-17C>T) c.437-17C>T (n.437-17C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209632793G= | CA2484302043 | LAMB3 | c.629-17C= (n.629-17C=) c.437-17C= (n.437-17C=) | |
| 1 | g.209632796A>C | CA2650322175 | LAMB3 | c.629-20T>G (n.629-20T>G) c.437-20T>G (n.437-20T>G) | gnomAD v4 |
| 1 | g.209632797G>A | CA36759774 | LAMB3 | c.629-21C>T (n.629-21C>T) c.437-21C>T (n.437-21C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209632797G= | CA2484302044 | LAMB3 | c.629-21C= (n.629-21C=) c.437-21C= (n.437-21C=) | |
| 1 | g.209632798G>A | CA730835700 | LAMB3 | c.629-22C>T (n.629-22C>T) c.437-22C>T (n.437-22C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209632798G= | CA2484302045 | LAMB3 | c.629-22C= (n.629-22C=) c.437-22C= (n.437-22C=) | |
| 1 | g.209632799A= | CA2484302046 | LAMB3 | c.629-23T= (n.629-23T=) c.437-23T= (n.437-23T=) | |
| 1 | g.209632799A>G | CA528652929 | LAMB3 | c.629-23T>C (n.629-23T>C) c.437-23T>C (n.437-23T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209632800G>A | CA2484302048 | LAMB3 | c.629-24C>T (n.629-24C>T) c.437-24C>T (n.437-24C>T) | dbSNP |
| 1 | g.209632800G>C | CA1375889 | LAMB3 | c.629-24C>G (n.629-24C>G) c.437-24C>G (n.437-24C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209632800G= | CA2484302047 | LAMB3 | c.629-24C= (n.629-24C=) c.437-24C= (n.437-24C=) | |
| 1 | g.209632801G>A | CA2574124567 | LAMB3 | c.629-25C>T (n.629-25C>T) c.437-25C>T (n.437-25C>T) | gnomAD v4 |
| 1 | g.209632802G>A | CA1375890 | LAMB3 | c.629-26C>T (n.629-26C>T) c.437-26C>T (n.437-26C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209632802G= | CA2484302049 | LAMB3 | c.629-26C= (n.629-26C=) c.437-26C= (n.437-26C=) | |
| 1 | g.209632802G>T | CA2650322176 | LAMB3 | c.629-26C>A (n.629-26C>A) c.437-26C>A (n.437-26C>A) | gnomAD v4 |
| 1 | g.209632803A= | CA2484302050 | LAMB3 | c.629-27T= (n.629-27T=) c.437-27T= (n.437-27T=) | |
| 1 | g.209632803A>G | CA1011769567 | LAMB3 | c.629-27T>C (n.629-27T>C) c.437-27T>C (n.437-27T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209632805G>T | CA2574124568 | LAMB3 | c.629-29C>A (n.629-29C>A) c.437-29C>A (n.437-29C>A) | gnomAD v4 |
| 1 | g.209632807G>T | CA2650322177 | LAMB3 | c.629-31C>A (n.629-31C>A) c.437-31C>A (n.437-31C>A) | gnomAD v4 |
| 1 | g.209632808T>A | CA2650322178 | LAMB3 | c.629-32A>T (n.629-32A>T) c.437-32A>T (n.437-32A>T) | gnomAD v4 |
| 1 | g.209632810G>T | CA2650322179 | LAMB3 | c.629-34C>A (n.629-34C>A) c.437-34C>A (n.437-34C>A) | gnomAD v4 |
| 1 | g.209632811G>A | CA2747563281 | LAMB3 | c.629-35C>T (n.629-35C>T) c.437-35C>T (n.437-35C>T) | |
| 1 | g.209632812del | CA2650322180 | LAMB3 | c.629-36del (n.629-36del) c.437-36del (n.437-36del) | gnomAD v4 |
| 1 | g.209632813G>T | CA2650322181 | LAMB3 | c.629-37C>A (n.629-37C>A) c.437-37C>A (n.437-37C>A) | gnomAD v4 |
| 1 | g.209632813_209632814delinsGA | CA2484302051 | LAMB3 | c.629-38_629-37delinsTC (n.629-38_629-37delinsTC) c.437-38_437-37delinsTC (n.437-38_437-37delinsTC) | |
| 1 | g.209632814A= | CA2484302052 | LAMB3 | c.629-38T= (n.629-38T=) c.437-38T= (n.437-38T=) | |
| 1 | g.209632814A>C | CA36759782 | LAMB3 | c.629-38T>G (n.629-38T>G) c.437-38T>G (n.437-38T>G) | dbSNP gnomAD v4 |
| 1 | g.209632815del | CA1375891 | LAMB3 | c.629-38del (n.629-38del) c.437-38del (n.437-38del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209632816T>C | CA730835704 | LAMB3 | c.629-40A>G (n.629-40A>G) c.437-40A>G (n.437-40A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209632816T= | CA2484302053 | LAMB3 | c.629-40A= (n.629-40A=) c.437-40A= (n.437-40A=) | |
| 1 | g.209632817G>A | CA2650322182 | LAMB3 | c.629-41C>T (n.629-41C>T) c.437-41C>T (n.437-41C>T) | gnomAD v4 |
| 1 | g.209632818G>A | CA2747563282 | LAMB3 | c.629-42C>T (n.629-42C>T) c.437-42C>T (n.437-42C>T) | |
| 1 | g.209632825A>G | CA2650322183 | LAMB3 | c.629-49T>C (n.629-49T>C) c.437-49T>C (n.437-49T>C) | gnomAD v4 |
| 1 | g.209632831G>C | CA2650322184 | LAMB3 | c.629-55C>G (n.629-55C>G) c.437-55C>G (n.437-55C>G) | gnomAD v4 |
| 1 | g.209632832G>A | CA2574124569 | LAMB3 | c.629-56C>T (n.629-56C>T) c.437-56C>T (n.437-56C>T) | |
| 1 | g.209632832G= | CA2484302054 | LAMB3 | c.629-56C= (n.629-56C=) c.437-56C= (n.437-56C=) | |
| 1 | g.209632832G>T | CA2484302055 | LAMB3 | c.629-56C>A (n.629-56C>A) c.437-56C>A (n.437-56C>A) | dbSNP |
| 1 | g.209632835G>A | CA2650322185 | LAMB3 | c.629-59C>T (n.629-59C>T) c.437-59C>T (n.437-59C>T) | gnomAD v4 |
| 1 | g.209632835_209632836delinsGT | CA2484302056 | LAMB3 | c.629-60_629-59delinsAC (n.629-60_629-59delinsAC) c.437-60_437-59delinsAC (n.437-60_437-59delinsAC) | |
| 1 | g.209632836T>C | CA2574124570 | LAMB3 | c.629-60A>G (n.629-60A>G) c.437-60A>G (n.437-60A>G) | |
| 1 | g.209632837del | CA2484302057 | LAMB3 | c.629-60del (n.629-60del) c.437-60del (n.437-60del) | dbSNP gnomAD v4 |
| 1 | g.209632838A>G | CA2574124571 | LAMB3 | c.629-62T>C (n.629-62T>C) c.437-62T>C (n.437-62T>C) | gnomAD v4 |
| 1 | g.209632838A>T | CA646386270 | LAMB3 | c.629-62T>A (n.629-62T>A) c.437-62T>A (n.437-62T>A) | gnomAD v4 COSMIC |
| 1 | g.209632839G>A | CA2545161384 | LAMB3 | c.629-63C>T (n.629-63C>T) c.437-63C>T (n.437-63C>T) | |
| 1 | g.209632839G>C | CA2650322186 | LAMB3 | c.629-63C>G (n.629-63C>G) c.437-63C>G (n.437-63C>G) | gnomAD v4 |
| 1 | g.209632839G>T | CA2650322187 | LAMB3 | c.629-63C>A (n.629-63C>A) c.437-63C>A (n.437-63C>A) | gnomAD v4 |