| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.49123013G>A | CA352694773 | LAMB2 | c.4264C>T (p.Pro1422Ser) n.573C>T | |
| 3 | g.49123013G>C | CA352694776 | LAMB2 | c.4264C>G (p.Pro1422Ala) n.573C>G | |
| 3 | g.49123013G>T | CA352694778 | LAMB2 | c.4264C>A (p.Pro1422Thr) n.573C>A | gnomAD v4 |
| 3 | g.49123014G>A | CA433633960 | LAMB2 | c.4263C>T (p.Ser1421=) n.572C>T | gnomAD v4 |
| 3 | g.49123014G>C | CA352694782 | LAMB2 | c.4263C>G (p.Ser1421Arg) n.572C>G | gnomAD v4 |
| 3 | g.49123014G>T | CA352694784 | LAMB2 | c.4263C>A (p.Ser1421Arg) n.572C>A | gnomAD v4 |
| 3 | g.49123015C>A | CA352694789 | LAMB2 | c.4262G>T (p.Ser1421Ile) n.571G>T | gnomAD v4 |
| 3 | g.49123015C>G | CA352694790 | LAMB2 | c.4262G>C (p.Ser1421Thr) n.571G>C | |
| 3 | g.49123015C>T | CA352694787 | LAMB2 | c.4262G>A (p.Ser1421Asn) n.571G>A | |
| 3 | g.49123016T>A | CA352694791 | LAMB2 | c.4261A>T (p.Ser1421Cys) n.570A>T | |
| 3 | g.49123016T>C | CA352694793 | LAMB2 | c.4261A>G (p.Ser1421Gly) n.570A>G | dbSNP |
| 3 | g.49123016T>G | CA352694794 | LAMB2 | c.4261A>C (p.Ser1421Arg) n.570A>C | |
| 3 | g.49123016T= | CA1363339873 | LAMB2 | c.4261A= (p.Ser1421=) n.570A= | |
| 3 | g.49123017T>A | CA433633962 | LAMB2 | c.4260A>T (p.Thr1420=) n.569A>T | |
| 3 | g.49123017T>C | CA433633963 | LAMB2 | c.4260A>G (p.Thr1420=) n.569A>G | |
| 3 | g.49123017T>G | CA433633964 | LAMB2 | c.4260A>C (p.Thr1420=) n.569A>C | |
| 3 | g.49123018G>A | CA352694801 | LAMB2 | c.4259C>T (p.Thr1420Ile) n.568C>T | dbSNP |
| 3 | g.49123018G>C | CA352694804 | LAMB2 | c.4259C>G (p.Thr1420Arg) n.568C>G | |
| 3 | g.49123018G= | CA1363339876 | LAMB2 | c.4259C= (p.Thr1420=) n.568C= | |
| 3 | g.49123018G>T | CA352694806 | LAMB2 | c.4259C>A (p.Thr1420Lys) n.568C>A | gnomAD v4 |
| 3 | g.49123019T>A | CA352694808 | LAMB2 | c.4258A>T (p.Thr1420Ser) n.567A>T | |
| 3 | g.49123019T>C | CA352694812 | LAMB2 | c.4258A>G (p.Thr1420Ala) n.567A>G | |
| 3 | g.49123019T>G | CA352694815 | LAMB2 | c.4258A>C (p.Thr1420Pro) n.567A>C | |
| 3 | g.49123020A= | CA1363339881 | LAMB2 | c.4257T= (p.Ala1419=) n.566T= | |
| 3 | g.49123020A>C | CA433633965 | LAMB2 | c.4257T>G (p.Ala1419=) n.566T>G | |
| 3 | g.49123020A>G | CA2393824 | LAMB2 | c.4257T>C (p.Ala1419=) n.566T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123020A>T | CA433633966 | LAMB2 | c.4257T>A (p.Ala1419=) n.566T>A | |
| 3 | g.49123021G>A | CA2393825 | LAMB2 | c.4256C>T (p.Ala1419Val) n.565C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123021G>C | CA352694820 | LAMB2 | c.4256C>G (p.Ala1419Gly) n.565C>G | gnomAD v4 |
| 3 | g.49123021G= | CA1363339887 | LAMB2 | c.4256C= (p.Ala1419=) n.565C= | |
| 3 | g.49123021G>T | CA352694821 | LAMB2 | c.4256C>A (p.Ala1419Asp) n.565C>A | gnomAD v4 |
| 3 | g.49123022C>A | CA352694825 | LAMB2 | c.4255G>T (p.Ala1419Ser) n.564G>T | |
| 3 | g.49123022C>G | CA352694824 | LAMB2 | c.4255G>C (p.Ala1419Pro) n.564G>C | |
| 3 | g.49123022C>T | CA352694822 | LAMB2 | c.4255G>A (p.Ala1419Thr) n.564G>A | gnomAD v4 |
| 3 | g.49123023A>C | CA352694828 | LAMB2 | c.4254T>G (p.Cys1418Trp) n.563T>G | |
| 3 | g.49123023A>G | CA433633968 | LAMB2 | c.4254T>C (p.Cys1418=) n.563T>C | |
| 3 | g.49123023A>T | CA352694830 | LAMB2 | c.4254T>A (p.Cys1418Ter) n.563T>A | |
| 3 | g.49123024C>A | CA352694833 | LAMB2 | c.4253G>T (p.Cys1418Phe) n.562G>T | |
| 3 | g.49123024C>G | CA352694836 | LAMB2 | c.4253G>C (p.Cys1418Ser) n.562G>C | |
| 3 | g.49123024C>T | CA352694838 | LAMB2 | c.4253G>A (p.Cys1418Tyr) n.562G>A | |
| 3 | g.49123025A= | CA1363339890 | LAMB2 | c.4252T= (p.Cys1418=) n.561T= | |
| 3 | g.49123025A>C | CA352694839 | LAMB2 | c.4252T>G (p.Cys1418Gly) n.561T>G | |
| 3 | g.49123025A>G | CA2393826 | LAMB2 | c.4252T>C (p.Cys1418Arg) n.561T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123025A>T | CA352694845 | LAMB2 | c.4252T>A (p.Cys1418Ser) n.561T>A | |
| 3 | g.49123026G>A | CA433633974 | LAMB2 | c.4251C>T (p.Pro1417=) n.560C>T | COSMIC |
| 3 | g.49123026G>C | CA433633973 | LAMB2 | c.4251C>G (p.Pro1417=) n.560C>G | |
| 3 | g.49123026G>T | CA433633972 | LAMB2 | c.4251C>A (p.Pro1417=) n.560C>A | |
| 3 | g.49123027G>A | CA352694856 | LAMB2 | c.4250C>T (p.Pro1417Leu) n.559C>T | gnomAD v4 |
| 3 | g.49123027G>C | CA352694861 | LAMB2 | c.4250C>G (p.Pro1417Arg) n.559C>G | gnomAD v4 |
| 3 | g.49123027G>T | CA352694867 | LAMB2 | c.4250C>A (p.Pro1417His) n.559C>A | gnomAD v4 |
| 3 | g.49123028G>A | CA352694871 | LAMB2 | c.4249C>T (p.Pro1417Ser) n.558C>T | dbSNP |
| 3 | g.49123028G>C | CA352694875 | LAMB2 | c.4249C>G (p.Pro1417Ala) n.558C>G | |
| 3 | g.49123028G= | CA1363339893 | LAMB2 | c.4249C= (p.Pro1417=) n.558C= | |
| 3 | g.49123028G>T | CA352694880 | LAMB2 | c.4249C>A (p.Pro1417Thr) n.558C>A | gnomAD v4 |
| 3 | g.49123029T>A | CA433633976 | LAMB2 | c.4248A>T (p.Ala1416=) n.557A>T | gnomAD v4 |
| 3 | g.49123029T>C | CA433633977 | LAMB2 | c.4248A>G (p.Ala1416=) n.557A>G | |
| 3 | g.49123029T>G | CA433633978 | LAMB2 | c.4248A>C (p.Ala1416=) n.557A>C | |
| 3 | g.49123030G>A | CA352694896 | LAMB2 | c.4247C>T (p.Ala1416Val) n.556C>T | dbSNP gnomAD v4 |
| 3 | g.49123030G>C | CA352694889 | LAMB2 | c.4247C>G (p.Ala1416Gly) n.556C>G | |
| 3 | g.49123030G= | CA1363339895 | LAMB2 | c.4247C= (p.Ala1416=) n.556C= | |
| 3 | g.49123030G>T | CA352694887 | LAMB2 | c.4247C>A (p.Ala1416Glu) n.556C>A | gnomAD v4 |
| 3 | g.49123031C>A | CA352694900 | LAMB2 | c.4246G>T (p.Ala1416Ser) n.555G>T | |
| 3 | g.49123031C>G | CA352694911 | LAMB2 | c.4246G>C (p.Ala1416Pro) n.555G>C | |
| 3 | g.49123031C>T | CA352694915 | LAMB2 | c.4246G>A (p.Ala1416Thr) n.555G>A | gnomAD v4 |
| 3 | g.49123032A= | CA1363339898 | LAMB2 | c.4245T= (p.Asp1415=) n.554T= | |
| 3 | g.49123032A>C | CA352694938 | LAMB2 | c.4245T>G (p.Asp1415Glu) n.554T>G | |
| 3 | g.49123032A>G | CA2393827 | LAMB2 | c.4245T>C (p.Asp1415=) n.554T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49123032A>T | CA352694939 | LAMB2 | c.4245T>A (p.Asp1415Glu) n.554T>A | |
| 3 | g.49123033T>A | CA352694950 | LAMB2 | c.4244A>T (p.Asp1415Val) n.553A>T | |
| 3 | g.49123033T>C | CA352694947 | LAMB2 | c.4244A>G (p.Asp1415Gly) n.553A>G | |
| 3 | g.49123033T>G | CA352694944 | LAMB2 | c.4244A>C (p.Asp1415Ala) n.553A>C | |
| 3 | g.49123034C>A | CA352694957 | LAMB2 | c.4243G>T (p.Asp1415Tyr) n.552G>T | |
| 3 | g.49123034C= | CA1363339901 | LAMB2 | c.4243G= (p.Asp1415=) n.552G= | |
| 3 | g.49123034C>G | CA352694962 | LAMB2 | c.4243G>C (p.Asp1415His) n.552G>C | |
| 3 | g.49123034C>T | CA352694967 | LAMB2 | c.4243G>A (p.Asp1415Asn) n.552G>A | dbSNP gnomAD v2 |
| 3 | g.49123035C>A | CA433633981 | LAMB2 | c.4242G>T (p.Gly1414=) n.551G>T | |
| 3 | g.49123035C>G | CA433633983 | LAMB2 | c.4242G>C (p.Gly1414=) n.551G>C | |
| 3 | g.49123035C>T | CA433633985 | LAMB2 | c.4242G>A (p.Gly1414=) n.551G>A | gnomAD v4 |
| 3 | g.49123036C>A | CA352694980 | LAMB2 | c.4241G>T (p.Gly1414Val) n.550G>T | |
| 3 | g.49123036C= | CA1363339903 | LAMB2 | c.4241G= (p.Gly1414=) n.550G= | |
| 3 | g.49123036C>G | CA352694991 | LAMB2 | c.4241G>C (p.Gly1414Ala) n.550G>C | gnomAD v4 |
| 3 | g.49123036C>T | CA352694993 | LAMB2 | c.4241G>A (p.Gly1414Glu) n.550G>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49123037C>A | CA352695007 | LAMB2 | c.4240G>T (p.Gly1414Trp) n.549G>T | |
| 3 | g.49123037C= | CA1363339905 | LAMB2 | c.4240G= (p.Gly1414=) n.549G= | |
| 3 | g.49123037C>G | CA352695015 | LAMB2 | c.4240G>C (p.Gly1414Arg) n.549G>C | gnomAD v4 |
| 3 | g.49123037C>T | CA352695010 | LAMB2 | c.4240G>A (p.Gly1414Arg) n.549G>A | dbSNP gnomAD v4 |
| 3 | g.49123038del | CA2586972501 | LAMB2 | c.4239del (p.Asp1415MetfsTer?) n.548del | |
| 3 | g.49123038T>A | CA433633986 | LAMB2 | c.4239A>T (p.Pro1413=) n.548A>T | |
| 3 | g.49123038T>C | CA433633987 | LAMB2 | c.4239A>G (p.Pro1413=) n.548A>G | gnomAD v4 |
| 3 | g.49123038T>G | CA433633988 | LAMB2 | c.4239A>C (p.Pro1413=) n.548A>C | |
| 3 | g.49123039G>A | CA352695020 | LAMB2 | c.4238C>T (p.Pro1413Leu) n.547C>T | |
| 3 | g.49123039G>C | CA352695025 | LAMB2 | c.4238C>G (p.Pro1413Arg) n.547C>G | |
| 3 | g.49123039G>T | CA352695030 | LAMB2 | c.4238C>A (p.Pro1413Gln) n.547C>A | |
| 3 | g.49123040G>A | CA352695035 | LAMB2 | c.4237C>T (p.Pro1413Ser) n.546C>T | |
| 3 | g.49123040G>C | CA352695039 | LAMB2 | c.4237C>G (p.Pro1413Ala) n.546C>G | |
| 3 | g.49123040G>T | CA352695041 | LAMB2 | c.4237C>A (p.Pro1413Thr) n.546C>A | |
| 3 | g.49123041T>A | CA433633990 | LAMB2 | c.4236A>T (p.Ala1412=) n.545A>T | |
| 3 | g.49123041T>C | CA433633991 | LAMB2 | c.4236A>G (p.Ala1412=) n.545A>G | |
| 3 | g.49123041T>G | CA433633992 | LAMB2 | c.4236A>C (p.Ala1412=) n.545A>C | |
| 3 | g.49123042G>A | CA352695046 | LAMB2 | c.4235C>T (p.Ala1412Val) n.544C>T | dbSNP |
| 3 | g.49123042G>C | CA352695050 | LAMB2 | c.4235C>G (p.Ala1412Gly) n.544C>G | |
| 3 | g.49123042G= | CA1363339908 | LAMB2 | c.4235C= (p.Ala1412=) n.544C= | |
| 3 | g.49123042G>T | CA352695051 | LAMB2 | c.4235C>A (p.Ala1412Glu) n.544C>A | gnomAD v4 |
| 3 | g.49123043C>A | CA352695052 | LAMB2 | c.4234G>T (p.Ala1412Ser) n.543G>T | |
| 3 | g.49123043C= | CA1363339911 | LAMB2 | c.4234G= (p.Ala1412=) n.543G= | |
| 3 | g.49123043C>G | CA352695055 | LAMB2 | c.4234G>C (p.Ala1412Pro) n.543G>C | |
| 3 | g.49123043C>T | CA352695061 | LAMB2 | c.4234G>A (p.Ala1412Thr) n.543G>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49123044C>A | CA433633994 | LAMB2 | c.4233G>T (p.Gly1411=) n.542G>T | gnomAD v4 |
| 3 | g.49123044C>G | CA433633995 | LAMB2 | c.4233G>C (p.Gly1411=) n.542G>C | |
| 3 | g.49123044C>T | CA433633996 | LAMB2 | c.4233G>A (p.Gly1411=) n.542G>A | gnomAD v4 |
| 3 | g.49123045C>A | CA352695066 | LAMB2 | c.4232G>T (p.Gly1411Val) n.541G>T | |
| 3 | g.49123045C= | CA1363339915 | LAMB2 | c.4232G= (p.Gly1411=) n.541G= | |
| 3 | g.49123045C>G | CA352695071 | LAMB2 | c.4232G>C (p.Gly1411Ala) n.541G>C | |
| 3 | g.49123045C>T | CA352695067 | LAMB2 | c.4232G>A (p.Gly1411Glu) n.541G>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49123046C>A | CA352695076 | LAMB2 | c.4231G>T (p.Gly1411Trp) n.540G>T | |
| 3 | g.49123046C>G | CA352695081 | LAMB2 | c.4231G>C (p.Gly1411Arg) n.540G>C | |
| 3 | g.49123046C>T | CA352695077 | LAMB2 | c.4231G>A (p.Gly1411Arg) n.540G>A | |
| 3 | g.49123047A>C | CA352695086 | LAMB2 | c.4230T>G (p.Cys1410Trp) n.539T>G | |
| 3 | g.49123047A>G | CA433633998 | LAMB2 | c.4230T>C (p.Cys1410=) n.539T>C | |
| 3 | g.49123047A>T | CA352695094 | LAMB2 | c.4230T>A (p.Cys1410Ter) n.539T>A | |
| 3 | g.49123048C>A | CA352695114 | LAMB2 | c.4229G>T (p.Cys1410Phe) n.538G>T | dbSNP gnomAD v2 |
| 3 | g.49123048C= | CA1363339916 | LAMB2 | c.4229G= (p.Cys1410=) n.538G= | |
| 3 | g.49123048C>G | CA352695118 | LAMB2 | c.4229G>C (p.Cys1410Ser) n.538G>C | |
| 3 | g.49123048C>T | CA352695127 | LAMB2 | c.4229G>A (p.Cys1410Tyr) n.538G>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49123049A>C | CA352695134 | LAMB2 | c.4228T>G (p.Cys1410Gly) n.537T>G | |
| 3 | g.49123049A>G | CA352695135 | LAMB2 | c.4228T>C (p.Cys1410Arg) n.537T>C | |
| 3 | g.49123049A>T | CA352695136 | LAMB2 | c.4228T>A (p.Cys1410Ser) n.537T>A | |
| 3 | g.49123050C>A | CA433634002 | LAMB2 | c.4227G>T (p.Val1409=) n.536G>T | |
| 3 | g.49123050C= | CA1363339918 | LAMB2 | c.4227G= (p.Val1409=) n.536G= | |
| 3 | g.49123050C>G | CA433634003 | LAMB2 | c.4227G>C (p.Val1409=) n.536G>C | gnomAD v4 |
| 3 | g.49123050C>T | CA2393828 | LAMB2 | c.4227G>A (p.Val1409=) n.536G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123054_49123132del | CA2756174323 | LAMB2 | c.4224+4_4227del n.458_536del | |
| 3 | g.49123051A>C | CA352695162 | LAMB2 | c.4226T>G (p.Val1409Gly) n.535T>G | |
| 3 | g.49123051A>G | CA352695164 | LAMB2 | c.4226T>C (p.Val1409Ala) n.535T>C | gnomAD v4 |
| 3 | g.49123051A>T | CA352695166 | LAMB2 | c.4226T>A (p.Val1409Glu) n.535T>A | |
| 3 | g.49123052C>A | CA352695178 | LAMB2 | c.4225G>T (p.Val1409Leu) n.534G>T | |
| 3 | g.49123052C>G | CA352695168 | LAMB2 | c.4225G>C (p.Val1409Leu) n.534G>C | |
| 3 | g.49123052C>T | CA352695173 | LAMB2 | c.4225G>A (p.Val1409Met) n.534G>A | |
| 3 | g.49123053C>A | CA352695181 | LAMB2 | c.4225-1G>T (n.4225-1G>T) n.533G>T | COSMIC |
| 3 | g.49123053C>G | CA352695183 | LAMB2 | c.4225-1G>C (n.4225-1G>C) n.533G>C | |
| 3 | g.49123053C>T | CA352695185 | LAMB2 | c.4225-1G>A (n.4225-1G>A) n.533G>A | |
| 3 | g.49123054T>A | CA352695191 | LAMB2 | c.4225-2A>T (n.4225-2A>T) n.532A>T | |
| 3 | g.49123054T>C | CA352695195 | LAMB2 | c.4225-2A>G (n.4225-2A>G) n.532A>G | |
| 3 | g.49123054T>G | CA352695198 | LAMB2 | c.4225-2A>C (n.4225-2A>C) n.532A>C | |
| 3 | g.49123055G>A | CA2665695451 | LAMB2 | c.4225-3C>T (n.4225-3C>T) n.531C>T | gnomAD v4 |
| 3 | g.49123055G>T | CA2665695450 | LAMB2 | c.4225-3C>A (n.4225-3C>A) n.531C>A | gnomAD v4 |
| 3 | g.49123057C= | CA1363339920 | LAMB2 | c.4225-5G= (n.4225-5G=) n.529G= | |
| 3 | g.49123057C>G | CA2393829 | LAMB2 | c.4225-5G>C (n.4225-5G>C) n.529G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123057C>T | CA2665695452 | LAMB2 | c.4225-5G>A (n.4225-5G>A) n.529G>A | gnomAD v4 |
| 3 | g.49123058del | CA2577594211 | LAMB2 | c.4225-6del (n.4225-6del) n.528del | |
| 3 | g.49123058A>G | CA2665695454 | LAMB2 | c.4225-6T>C (n.4225-6T>C) n.528T>C | gnomAD v4 |
| 3 | g.49123058_49123059delinsAG | CA1363339923 | LAMB2 | c.4225-7_4225-6delinsCT (n.4225-7_4225-6delinsCT) n.527_528delinsCT | |
| 3 | g.49123059G>T | CA2665695455 | LAMB2 | c.4225-7C>A (n.4225-7C>A) n.527C>A | gnomAD v4 |
| 3 | g.49123060del | CA2393830 | LAMB2 | c.4225-7del (n.4225-7del) n.527del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49123060G>A | CA2665695456 | LAMB2 | c.4225-8C>T (n.4225-8C>T) n.526C>T | gnomAD v4 |
| 3 | g.49123060G>T | CA2665695457 | LAMB2 | c.4225-8C>A (n.4225-8C>A) n.526C>A | gnomAD v4 |
| 3 | g.49123061C>A | CA1047735196 | LAMB2 | c.4225-9G>T (n.4225-9G>T) n.525G>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49123061C= | CA1363339925 | LAMB2 | c.4225-9G= (n.4225-9G=) n.525G= | |
| 3 | g.49123063C>T | CA2665695458 | LAMB2 | c.4225-11G>A (n.4225-11G>A) n.523G>A | gnomAD v4 |
| 3 | g.49123064A= | CA1363339926 | LAMB2 | c.4225-12T= (n.4225-12T=) n.522T= | |
| 3 | g.49123064A>G | CA2393831 | LAMB2 | c.4225-12T>C (n.4225-12T>C) n.522T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49123065G>A | CA2393832 | LAMB2 | c.4225-13C>T (n.4225-13C>T) n.521C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123065G= | CA1363339928 | LAMB2 | c.4225-13C= (n.4225-13C=) n.521C= | |
| 3 | g.49123065G>T | CA2665695459 | LAMB2 | c.4225-13C>A (n.4225-13C>A) n.521C>A | gnomAD v4 |
| 3 | g.49123068C>A | CA2665695460 | LAMB2 | c.4225-16G>T (n.4225-16G>T) n.518G>T | gnomAD v4 |
| 3 | g.49123068C>T | CA2740413014 | LAMB2 | c.4225-16G>A (n.4225-16G>A) n.518G>A | |
| 3 | g.49123069A= | CA1363339930 | LAMB2 | c.4225-17T= (n.4225-17T=) n.517T= | |
| 3 | g.49123069A>G | CA1363339931 | LAMB2 | c.4225-17T>C (n.4225-17T>C) n.517T>C | ClinVar dbSNP |
| 3 | g.49123071G>T | CA2665695461 | LAMB2 | c.4225-19C>A (n.4225-19C>A) n.515C>A | gnomAD v4 |
| 3 | g.49123073C>A | CA2665695462 | LAMB2 | c.4225-21G>T (n.4225-21G>T) n.513G>T | gnomAD v4 |
| 3 | g.49123075G>A | CA907805104 | LAMB2 | c.4225-23C>T (n.4225-23C>T) n.511C>T | dbSNP gnomAD v4 |
| 3 | g.49123075G>C | CA2665695463 | LAMB2 | c.4225-23C>G (n.4225-23C>G) n.511C>G | gnomAD v4 |
| 3 | g.49123075G= | CA1363339932 | LAMB2 | c.4225-23C= (n.4225-23C=) n.511C= | |
| 3 | g.49123075G>T | CA2665695464 | LAMB2 | c.4225-23C>A (n.4225-23C>A) n.511C>A | gnomAD v4 |
| 3 | g.49123077G>A | CA2665695465 | LAMB2 | c.4225-25C>T (n.4225-25C>T) n.509C>T | gnomAD v4 |
| 3 | g.49123077G>C | CA543048571 | LAMB2 | c.4225-25C>G (n.4225-25C>G) n.509C>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49123077G= | CA1363339934 | LAMB2 | c.4225-25C= (n.4225-25C=) n.509C= | |
| 3 | g.49123077G>T | CA543048572 | LAMB2 | c.4225-25C>A (n.4225-25C>A) n.509C>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49123077_49123078delinsGC | CA1363339935 | LAMB2 | c.4225-26_4225-25delinsGC (n.4225-26_4225-25delinsGC) n.508_509delinsGC | |
| 3 | g.49123078C>A | CA2665695466 | LAMB2 | c.4225-26G>T (n.4225-26G>T) n.508G>T | gnomAD v4 |
| 3 | g.49123078C= | CA1363339936 | LAMB2 | c.4225-26G= (n.4225-26G=) n.508G= | |
| 3 | g.49123078C>T | CA543048573 | LAMB2 | c.4225-26G>A (n.4225-26G>A) n.508G>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49123080del | CA1047735228 | LAMB2 | c.4225-26del (n.4225-26del) n.508del | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49123079_49123080del | CA2568537309 | LAMB2 | c.4225-27_4225-26del (n.4225-27_4225-26del) n.507_508del | |
| 3 | g.49123079C= | CA1363339938 | LAMB2 | c.4225-27G= (n.4225-27G=) n.507G= | |
| 3 | g.49123079C>T | CA2393833 | LAMB2 | c.4225-27G>A (n.4225-27G>A) n.507G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123082G>C | CA2393834 | LAMB2 | c.4225-30C>G (n.4225-30C>G) n.504C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49123082G= | CA1363339940 | LAMB2 | c.4225-30C= (n.4225-30C=) n.504C= | |
| 3 | g.49123083T>G | CA2565889993 | LAMB2 | c.4225-31A>C (n.4225-31A>C) n.503A>C | |
| 3 | g.49123084G>A | CA2665695467 | LAMB2 | c.4225-32C>T (n.4225-32C>T) n.502C>T | gnomAD v4 |
| 3 | g.49123084G>T | CA2665695468 | LAMB2 | c.4225-32C>A (n.4225-32C>A) n.502C>A | gnomAD v4 |
| 3 | g.49123085A>G | CA2549909956 | LAMB2 | c.4225-33T>C (n.4225-33T>C) n.501T>C | |
| 3 | g.49123085A>T | CA2665695469 | LAMB2 | c.4225-33T>A (n.4225-33T>A) n.501T>A | gnomAD v4 |
| 3 | g.49123086G>A | CA2665695470 | LAMB2 | c.4225-34C>T (n.4225-34C>T) n.500C>T | gnomAD v4 |
| 3 | g.49123087A= | CA1363339941 | LAMB2 | c.4225-35T= (n.4225-35T=) n.499T= | |
| 3 | g.49123087A>G | CA1363339942 | LAMB2 | c.4225-35T>C (n.4225-35T>C) n.499T>C | dbSNP |
| 3 | g.49123087A>T | CA2665695471 | LAMB2 | c.4225-35T>A (n.4225-35T>A) n.499T>A | gnomAD v4 |
| 3 | g.49123088G>A | CA907805123 | LAMB2 | c.4225-36C>T (n.4225-36C>T) n.498C>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49123088G= | CA1363339944 | LAMB2 | c.4225-36C= (n.4225-36C=) n.498C= | |
| 3 | g.49123089G>A | CA2393835 | LAMB2 | c.4225-37C>T (n.4225-37C>T) n.497C>T | dbSNP ExAC gnomAD v4 |
| 3 | g.49123089G= | CA1363339945 | LAMB2 | c.4225-37C= (n.4225-37C=) n.497C= | |
| 3 | g.49123089G>T | CA2665695472 | LAMB2 | c.4225-37C>A (n.4225-37C>A) n.497C>A | gnomAD v4 |
| 3 | g.49123091A= | CA1363339946 | LAMB2 | c.4225-39T= (n.4225-39T=) n.495T= | |
| 3 | g.49123091A>G | CA1363339947 | LAMB2 | c.4225-39T>C (n.4225-39T>C) n.495T>C | dbSNP |
| 3 | g.49123092C= | CA1363339949 | LAMB2 | c.4225-40G= (n.4225-40G=) n.494G= | |
| 3 | g.49123092C>T | CA2393836 | LAMB2 | c.4225-40G>A (n.4225-40G>A) n.494G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49123094T>C | CA2577594213 | LAMB2 | c.4224+38A>G (n.4224+38A>G) n.492A>G | |
| 3 | g.49123095C= | CA1363339950 | LAMB2 | c.4224+37G= (n.4224+37G=) n.491G= | |
| 3 | g.49123095C>G | CA2393837 | LAMB2 | c.4224+37G>C (n.4224+37G>C) n.491G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49123097A= | CA1363339952 | LAMB2 | c.4224+35T= (n.4224+35T=) n.489T= | |
| 3 | g.49123097A>G | CA2393838 | LAMB2 | c.4224+35T>C (n.4224+35T>C) n.489T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123098C= | CA1363339953 | LAMB2 | c.4224+34G= (n.4224+34G=) n.488G= | |
| 3 | g.49123098C>T | CA2393839 | LAMB2 | c.4224+34G>A (n.4224+34G>A) n.488G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49123099A= | CA1363339955 | LAMB2 | c.4224+33T= (n.4224+33T=) n.487T= | |
| 3 | g.49123099A>C | CA1363339956 | LAMB2 | c.4224+33T>G (n.4224+33T>G) n.487T>G | dbSNP |
| 3 | g.49123099A>G | CA543048574 | LAMB2 | c.4224+33T>C (n.4224+33T>C) n.487T>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49123100C= | CA1363339957 | LAMB2 | c.4224+32G= (n.4224+32G=) n.486G= | |
| 3 | g.49123100C>T | CA907805135 | LAMB2 | c.4224+32G>A (n.4224+32G>A) n.486G>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49123101C>A | CA907805136 | LAMB2 | c.4224+31G>T (n.4224+31G>T) n.485G>T | dbSNP |
| 3 | g.49123101C= | CA1363339958 | LAMB2 | c.4224+31G= (n.4224+31G=) n.485G= | |
| 3 | g.49123102C= | CA1363339960 | LAMB2 | c.4224+30G= (n.4224+30G=) n.484G= | |
| 3 | g.49123102C>T | CA74476767 | LAMB2 | c.4224+30G>A (n.4224+30G>A) n.484G>A | dbSNP gnomAD v4 |
| 3 | g.49123103A>G | CA2665695473 | LAMB2 | c.4224+29T>C (n.4224+29T>C) n.483T>C | gnomAD v4 |
| 3 | g.49123104C>A | CA2665695474 | LAMB2 | c.4224+28G>T (n.4224+28G>T) n.482G>T | gnomAD v4 |
| 3 | g.49123104C= | CA1363339961 | LAMB2 | c.4224+28G= (n.4224+28G=) n.482G= | |
| 3 | g.49123104C>T | CA1363339962 | LAMB2 | c.4224+28G>A (n.4224+28G>A) n.482G>A | dbSNP gnomAD v4 |
| 3 | g.49123105C>T | CA2577594214 | LAMB2 | c.4224+27G>A (n.4224+27G>A) n.481G>A | gnomAD v4 |
| 3 | g.49123106T>A | CA2393840 | LAMB2 | c.4224+26A>T (n.4224+26A>T) n.480A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123106T= | CA1363339965 | LAMB2 | c.4224+26A= (n.4224+26A=) n.480A= | |
| 3 | g.49123107G>C | CA2665695475 | LAMB2 | c.4224+25C>G (n.4224+25C>G) n.479C>G | gnomAD v4 |
| 3 | g.49123107G>T | CA2554371972 | LAMB2 | c.4224+25C>A (n.4224+25C>A) n.479C>A | gnomAD v4 |
| 3 | g.49123107_49123115dup | CA2393841 | LAMB2 | c.4224+17_4224+25dup (n.4224+17_4224+25dup) n.471_479dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49123109C= | CA1363339967 | LAMB2 | c.4224+23G= (n.4224+23G=) n.477G= | |
| 3 | g.49123109C>T | CA2393842 | LAMB2 | c.4224+23G>A (n.4224+23G>A) n.477G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49123110C= | CA1363339969 | LAMB2 | c.4224+22G= (n.4224+22G=) n.476G= | |
| 3 | g.49123110C>G | CA2577594215 | LAMB2 | c.4224+22G>C (n.4224+22G>C) n.476G>C | |
| 3 | g.49123110C>T | CA74476779 | LAMB2 | c.4224+22G>A (n.4224+22G>A) n.476G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123111C>A | CA2393843 | LAMB2 | c.4224+21G>T (n.4224+21G>T) n.475G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123111C= | CA1363339971 | LAMB2 | c.4224+21G= (n.4224+21G=) n.475G= | |
| 3 | g.49123111C>G | CA2665695476 | LAMB2 | c.4224+21G>C (n.4224+21G>C) n.475G>C | gnomAD v4 |
| 3 | g.49123111C>T | CA1047735241 | LAMB2 | c.4224+21G>A (n.4224+21G>A) n.475G>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49123112A= | CA1363339973 | LAMB2 | c.4224+20T= (n.4224+20T=) n.474T= | |
| 3 | g.49123112A>C | CA2393844 | LAMB2 | c.4224+20T>G (n.4224+20T>G) n.474T>G | dbSNP ExAC gnomAD v2 |
| 3 | g.49123113C>A | CA2581872503 | LAMB2 | c.4224+19G>T (n.4224+19G>T) n.473G>T | |
| 3 | g.49123113C= | CA1363339975 | LAMB2 | c.4224+19G= (n.4224+19G=) n.473G= | |
| 3 | g.49123113C>G | CA2393846 | LAMB2 | c.4224+19G>C (n.4224+19G>C) n.473G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123113C>T | CA2393845 | LAMB2 | c.4224+19G>A (n.4224+19G>A) n.473G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |