| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.49123173C>A | CA352695614 | LAMB2 | c.4183G>T (p.Ala1395Ser) n.413G>T | |
| 3 | g.49123173C>G | CA352695615 | LAMB2 | c.4183G>C (p.Ala1395Pro) n.413G>C | |
| 3 | g.49123173C>T | CA352695616 | LAMB2 | c.4183G>A (p.Ala1395Thr) n.413G>A | |
| 3 | g.49123174A>C | CA433634075 | LAMB2 | c.4182T>G (p.Ser1394=) n.412T>G | |
| 3 | g.49123174A>G | CA433634076 | LAMB2 | c.4182T>C (p.Ser1394=) n.412T>C | |
| 3 | g.49123174A>T | CA433634074 | LAMB2 | c.4182T>A (p.Ser1394=) n.412T>A | |
| 3 | g.49123175G>A | CA352695618 | LAMB2 | c.4181C>T (p.Ser1394Phe) n.411C>T | |
| 3 | g.49123175G>C | CA352695620 | LAMB2 | c.4181C>G (p.Ser1394Cys) n.411C>G | |
| 3 | g.49123175G>T | CA352695622 | LAMB2 | c.4181C>A (p.Ser1394Tyr) n.411C>A | |
| 3 | g.49123176A>C | CA352695625 | LAMB2 | c.4180T>G (p.Ser1394Ala) n.410T>G | |
| 3 | g.49123176A>G | CA352695626 | LAMB2 | c.4180T>C (p.Ser1394Pro) n.410T>C | |
| 3 | g.49123176A>T | CA352695629 | LAMB2 | c.4180T>A (p.Ser1394Thr) n.410T>A | |
| 3 | g.49123177G>A | CA433634077 | LAMB2 | c.4179C>T (p.Leu1393=) n.409C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49123177G>C | CA433634078 | LAMB2 | c.4179C>G (p.Leu1393=) n.409C>G | |
| 3 | g.49123177G= | CA1363340023 | LAMB2 | c.4179C= (p.Leu1393=) n.409C= | |
| 3 | g.49123177G>T | CA433634079 | LAMB2 | c.4179C>A (p.Leu1393=) n.409C>A | |
| 3 | g.49123178A>C | CA352695631 | LAMB2 | c.4178T>G (p.Leu1393Arg) n.408T>G | |
| 3 | g.49123178A>G | CA352695632 | LAMB2 | c.4178T>C (p.Leu1393Pro) n.408T>C | gnomAD v4 |
| 3 | g.49123178A>T | CA352695633 | LAMB2 | c.4178T>A (p.Leu1393His) n.408T>A | |
| 3 | g.49123179G>A | CA074319 | LAMB2 | c.4177C>T (p.Leu1393Phe) n.407C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.[49123179G>A;49123216G>T] | CA074324 | LAMB2 | c.[4140C>A;4177C>T] (p.[Asn1380Lys;Leu1393Phe]) n.[370C>A;407C>T] | |
| 3 | g.49123179G>C | CA352695638 | LAMB2 | c.4177C>G (p.Leu1393Val) n.407C>G | |
| 3 | g.49123179G= | CA1363340026 | LAMB2 | c.4177C= (p.Leu1393=) n.407C= | |
| 3 | g.49123179G>T | CA352695636 | LAMB2 | c.4177C>A (p.Leu1393Ile) n.407C>A | |
| 3 | g.49123180C>A | CA352695643 | LAMB2 | c.4176G>T (p.Lys1392Asn) n.406G>T | |
| 3 | g.49123180C>G | CA352695645 | LAMB2 | c.4176G>C (p.Lys1392Asn) n.406G>C | |
| 3 | g.49123180C>T | CA433634083 | LAMB2 | c.4176G>A (p.Lys1392=) n.406G>A | gnomAD v4 |
| 3 | g.49123181T>A | CA352695650 | LAMB2 | c.4175A>T (p.Lys1392Met) n.405A>T | |
| 3 | g.49123181T>C | CA352695657 | LAMB2 | c.4175A>G (p.Lys1392Arg) n.405A>G | |
| 3 | g.49123181T>G | CA352695660 | LAMB2 | c.4175A>C (p.Lys1392Thr) n.405A>C | |
| 3 | g.49123182T>A | CA352695671 | LAMB2 | c.4174A>T (p.Lys1392Ter) n.404A>T | |
| 3 | g.49123182T>C | CA352695667 | LAMB2 | c.4174A>G (p.Lys1392Glu) n.404A>G | |
| 3 | g.49123182T>G | CA352695663 | LAMB2 | c.4174A>C (p.Lys1392Gln) n.404A>C | |
| 3 | g.49123183G>A | CA433634087 | LAMB2 | c.4173C>T (p.Gly1391=) n.403C>T | |
| 3 | g.49123183G>C | CA433634088 | LAMB2 | c.4173C>G (p.Gly1391=) n.403C>G | |
| 3 | g.49123183G>T | CA433634089 | LAMB2 | c.4173C>A (p.Gly1391=) n.403C>A | |
| 3 | g.49123184C>A | CA352695675 | LAMB2 | c.4172G>T (p.Gly1391Val) n.402G>T | |
| 3 | g.49123184C>G | CA352695676 | LAMB2 | c.4172G>C (p.Gly1391Ala) n.402G>C | |
| 3 | g.49123184C>T | CA352695680 | LAMB2 | c.4172G>A (p.Gly1391Asp) n.402G>A | |
| 3 | g.49123185C>A | CA352695686 | LAMB2 | c.4171G>T (p.Gly1391Cys) n.401G>T | |
| 3 | g.49123185C= | CA1363340029 | LAMB2 | c.4171G= (p.Gly1391=) n.401G= | |
| 3 | g.49123185C>G | CA352695688 | LAMB2 | c.4171G>C (p.Gly1391Arg) n.401G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49123185C>T | CA352695692 | LAMB2 | c.4171G>A (p.Gly1391Ser) n.401G>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49123186A>C | CA433634090 | LAMB2 | c.4170T>G (p.Leu1390=) n.400T>G | |
| 3 | g.49123186A>G | CA433634091 | LAMB2 | c.4170T>C (p.Leu1390=) n.400T>C | |
| 3 | g.49123186A>T | CA433634092 | LAMB2 | c.4170T>A (p.Leu1390=) n.400T>A | |
| 3 | g.49123187A>C | CA352695698 | LAMB2 | c.4169T>G (p.Leu1390Arg) n.399T>G | |
| 3 | g.49123187A>G | CA352695708 | LAMB2 | c.4169T>C (p.Leu1390Pro) n.399T>C | |
| 3 | g.49123187A>T | CA352695703 | LAMB2 | c.4169T>A (p.Leu1390His) n.399T>A | |
| 3 | g.49123188G>A | CA2393855 | LAMB2 | c.4168C>T (p.Leu1390Phe) n.398C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123188G>C | CA352695719 | LAMB2 | c.4168C>G (p.Leu1390Val) n.398C>G | |
| 3 | g.49123188G= | CA1363340031 | LAMB2 | c.4168C= (p.Leu1390=) n.398C= | |
| 3 | g.49123188G>T | CA352695722 | LAMB2 | c.4168C>A (p.Leu1390Ile) n.398C>A | |
| 3 | g.49123189T>A | CA433634093 | LAMB2 | c.4167A>T (p.Ala1389=) n.397A>T | |
| 3 | g.49123189T>C | CA433634094 | LAMB2 | c.4167A>G (p.Ala1389=) n.397A>G | gnomAD v4 |
| 3 | g.49123189T>G | CA433634095 | LAMB2 | c.4167A>C (p.Ala1389=) n.397A>C | |
| 3 | g.49123190G>A | CA352695729 | LAMB2 | c.4166C>T (p.Ala1389Val) n.396C>T | |
| 3 | g.49123190G>C | CA352695733 | LAMB2 | c.4166C>G (p.Ala1389Gly) n.396C>G | |
| 3 | g.49123190G>T | CA352695736 | LAMB2 | c.4166C>A (p.Ala1389Glu) n.396C>A | |
| 3 | g.49123191C>A | CA352695741 | LAMB2 | c.4165G>T (p.Ala1389Ser) n.395G>T | |
| 3 | g.49123191C= | CA1363340033 | LAMB2 | c.4165G= (p.Ala1389=) n.395G= | |
| 3 | g.49123191C>G | CA352695745 | LAMB2 | c.4165G>C (p.Ala1389Pro) n.395G>C | |
| 3 | g.49123191C>T | CA2393856 | LAMB2 | c.4165G>A (p.Ala1389Thr) n.395G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49123192C>A | CA433634100 | LAMB2 | c.4164G>T (p.Arg1388=) n.394G>T | |
| 3 | g.49123192C>G | CA433634101 | LAMB2 | c.4164G>C (p.Arg1388=) n.394G>C | |
| 3 | g.49123192C>T | CA433634102 | LAMB2 | c.4164G>A (p.Arg1388=) n.394G>A | |
| 3 | g.49123193C>A | CA352695754 | LAMB2 | c.4163G>T (p.Arg1388Leu) n.393G>T | |
| 3 | g.49123193C= | CA1363340036 | LAMB2 | c.4163G= (p.Arg1388=) n.393G= | |
| 3 | g.49123193C>G | CA352695758 | LAMB2 | c.4163G>C (p.Arg1388Pro) n.393G>C | |
| 3 | g.49123193C>T | CA2393857 | LAMB2 | c.4163G>A (p.Arg1388Gln) n.393G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.49123194G>A | CA2393858 | LAMB2 | c.4162C>T (p.Arg1388Trp) n.392C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123194G>C | CA352695766 | LAMB2 | c.4162C>G (p.Arg1388Gly) n.392C>G | |
| 3 | g.49123194G= | CA1363340039 | LAMB2 | c.4162C= (p.Arg1388=) n.392C= | |
| 3 | g.49123194G>T | CA433634105 | LAMB2 | c.4162C>A (p.Arg1388=) n.392C>A | gnomAD v4 |
| 3 | g.49123195C>A | CA352695774 | LAMB2 | c.4161G>T (p.Gln1387His) n.391G>T | |
| 3 | g.49123195C>G | CA352695776 | LAMB2 | c.4161G>C (p.Gln1387His) n.391G>C | |
| 3 | g.49123195C>T | CA433634106 | LAMB2 | c.4161G>A (p.Gln1387=) n.391G>A | |
| 3 | g.49123196T>A | CA352695783 | LAMB2 | c.4160A>T (p.Gln1387Leu) n.390A>T | |
| 3 | g.49123196T>C | CA352695790 | LAMB2 | c.4160A>G (p.Gln1387Arg) n.390A>G | |
| 3 | g.49123196T>G | CA352695786 | LAMB2 | c.4160A>C (p.Gln1387Pro) n.390A>C | |
| 3 | g.49123197G>A | CA352695795 | LAMB2 | c.4159C>T (p.Gln1387Ter) n.389C>T | gnomAD v4 |
| 3 | g.49123197G>C | CA352695803 | LAMB2 | c.4159C>G (p.Gln1387Glu) n.389C>G | |
| 3 | g.49123197G>T | CA352695800 | LAMB2 | c.4159C>A (p.Gln1387Lys) n.389C>A | |
| 3 | g.49123198G>A | CA433634110 | LAMB2 | c.4158C>T (p.Asn1386=) n.388C>T | |
| 3 | g.49123198G>C | CA352695811 | LAMB2 | c.4158C>G (p.Asn1386Lys) n.388C>G | |
| 3 | g.49123198G>T | CA352695813 | LAMB2 | c.4158C>A (p.Asn1386Lys) n.388C>A | |
| 3 | g.49123199T>A | CA352695816 | LAMB2 | c.4157A>T (p.Asn1386Ile) n.387A>T | dbSNP |
| 3 | g.49123199T>C | CA2393859 | LAMB2 | c.4157A>G (p.Asn1386Ser) n.387A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123199T>G | CA352695820 | LAMB2 | c.4157A>C (p.Asn1386Thr) n.387A>C | |
| 3 | g.49123199T= | CA1363340041 | LAMB2 | c.4157A= (p.Asn1386=) n.387A= | |
| 3 | g.49123200T>A | CA352695821 | LAMB2 | c.4156A>T (p.Asn1386Tyr) n.386A>T | |
| 3 | g.49123200T>C | CA352695822 | LAMB2 | c.4156A>G (p.Asn1386Asp) n.386A>G | |
| 3 | g.49123200T>G | CA352695823 | LAMB2 | c.4156A>C (p.Asn1386His) n.386A>C | |
| 3 | g.49123201G>A | CA433634114 | LAMB2 | c.4155C>T (p.Ala1385=) n.385C>T | |
| 3 | g.49123201G>C | CA433634115 | LAMB2 | c.4155C>G (p.Ala1385=) n.385C>G | |
| 3 | g.49123201G>T | CA433634116 | LAMB2 | c.4155C>A (p.Ala1385=) n.385C>A | |
| 3 | g.49123202G>A | CA352695825 | LAMB2 | c.4154C>T (p.Ala1385Val) n.384C>T | gnomAD v4 |
| 3 | g.49123202G>C | CA352695826 | LAMB2 | c.4154C>G (p.Ala1385Gly) n.384C>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49123202G= | CA1363340042 | LAMB2 | c.4154C= (p.Ala1385=) n.384C= | |
| 3 | g.49123202G>T | CA352695828 | LAMB2 | c.4154C>A (p.Ala1385Asp) n.384C>A | |
| 3 | g.49123203C>A | CA352695833 | LAMB2 | c.4153G>T (p.Ala1385Ser) n.383G>T | |
| 3 | g.49123203C>G | CA352695832 | LAMB2 | c.4153G>C (p.Ala1385Pro) n.383G>C | |
| 3 | g.49123203C>T | CA352695831 | LAMB2 | c.4153G>A (p.Ala1385Thr) n.383G>A | gnomAD v4 |
| 3 | g.49123204C>A | CA352695835 | LAMB2 | c.4152G>T (p.Met1384Ile) n.382G>T | |
| 3 | g.49123204C>G | CA352695838 | LAMB2 | c.4152G>C (p.Met1384Ile) n.382G>C | |
| 3 | g.49123204C>T | CA352695846 | LAMB2 | c.4152G>A (p.Met1384Ile) n.382G>A | |
| 3 | g.49123205A>C | CA352695850 | LAMB2 | c.4151T>G (p.Met1384Arg) n.381T>G | |
| 3 | g.49123205A>G | CA352695854 | LAMB2 | c.4151T>C (p.Met1384Thr) n.381T>C | |
| 3 | g.49123205A>T | CA352695859 | LAMB2 | c.4151T>A (p.Met1384Lys) n.381T>A | |
| 3 | g.49123206T>A | CA352695860 | LAMB2 | c.4150A>T (p.Met1384Leu) n.380A>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.49123206T>C | CA2393860 | LAMB2 | c.4150A>G (p.Met1384Val) n.380A>G | dbSNP ExAC gnomAD v2 |
| 3 | g.49123206T>G | CA352695864 | LAMB2 | c.4150A>C (p.Met1384Leu) n.380A>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49123206T= | CA1363340044 | LAMB2 | c.4150A= (p.Met1384=) n.380A= | |
| 3 | g.49123207G>A | CA433634072 | LAMB2 | c.4149C>T (p.His1383=) n.379C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49123207G>C | CA352695865 | LAMB2 | c.4149C>G (p.His1383Gln) n.379C>G | |
| 3 | g.49123207G= | CA1363340048 | LAMB2 | c.4149C= (p.His1383=) n.379C= | |
| 3 | g.49123207G>T | CA2393861 | LAMB2 | c.4149C>A (p.His1383Gln) n.379C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123208del | CA2665695536 | LAMB2 | c.4148del (p.His1383ProfsTer18) n.378del | gnomAD v4 |
| 3 | g.49123208T>A | CA352695877 | LAMB2 | c.4148A>T (p.His1383Leu) n.378A>T | |
| 3 | g.49123208T>C | CA2393862 | LAMB2 | c.4148A>G (p.His1383Arg) n.378A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123208T>G | CA352695871 | LAMB2 | c.4148A>C (p.His1383Pro) n.378A>C | |
| 3 | g.49123208T= | CA1363340053 | LAMB2 | c.4148A= (p.His1383=) n.378A= | |
| 3 | g.49123209G>A | CA352695883 | LAMB2 | c.4147C>T (p.His1383Tyr) n.377C>T | gnomAD v4 |
| 3 | g.49123209G>C | CA352695887 | LAMB2 | c.4147C>G (p.His1383Asp) n.377C>G | |
| 3 | g.49123209G>T | CA352695891 | LAMB2 | c.4147C>A (p.His1383Asn) n.377C>A | |
| 3 | g.49123210T>A | CA352695897 | LAMB2 | c.4146A>T (p.Lys1382Asn) n.376A>T | |
| 3 | g.49123210T>C | CA433634081 | LAMB2 | c.4146A>G (p.Lys1382=) n.376A>G | dbSNP gnomAD v4 |
| 3 | g.49123210T>G | CA352695898 | LAMB2 | c.4146A>C (p.Lys1382Asn) n.376A>C | |
| 3 | g.49123210T= | CA1363340057 | LAMB2 | c.4146A= (p.Lys1382=) n.376A= | |
| 3 | g.49123211T>A | CA352695899 | LAMB2 | c.4145A>T (p.Lys1382Ile) n.375A>T | |
| 3 | g.49123211T>C | CA352695900 | LAMB2 | c.4145A>G (p.Lys1382Arg) n.375A>G | gnomAD v4 |
| 3 | g.49123211T>G | CA352695903 | LAMB2 | c.4145A>C (p.Lys1382Thr) n.375A>C | |
| 3 | g.49123212T>A | CA352695907 | LAMB2 | c.4144A>T (p.Lys1382Ter) n.374A>T | |
| 3 | g.49123212T>C | CA352695909 | LAMB2 | c.4144A>G (p.Lys1382Glu) n.374A>G | |
| 3 | g.49123212T>G | CA352695916 | LAMB2 | c.4144A>C (p.Lys1382Gln) n.374A>C | |
| 3 | g.49123213G>A | CA433634086 | LAMB2 | c.4143C>T (p.Ser1381=) n.373C>T | dbSNP gnomAD v2 |
| 3 | g.49123213G>C | CA352695920 | LAMB2 | c.4143C>G (p.Ser1381Arg) n.373C>G | |
| 3 | g.49123213G= | CA1363340060 | LAMB2 | c.4143C= (p.Ser1381=) n.373C= | |
| 3 | g.49123213G>T | CA352695922 | LAMB2 | c.4143C>A (p.Ser1381Arg) n.373C>A | dbSNP gnomAD v2 |
| 3 | g.49123214C>A | CA352695927 | LAMB2 | c.4142G>T (p.Ser1381Ile) n.372G>T | |
| 3 | g.49123214C= | CA1363340063 | LAMB2 | c.4142G= (p.Ser1381=) n.372G= | |
| 3 | g.49123214C>G | CA352695932 | LAMB2 | c.4142G>C (p.Ser1381Thr) n.372G>C | |
| 3 | g.49123214C>T | CA352695930 | LAMB2 | c.4142G>A (p.Ser1381Asn) n.372G>A | dbSNP gnomAD v2 |
| 3 | g.49123215T>A | CA352695937 | LAMB2 | c.4141A>T (p.Ser1381Cys) n.371A>T | |
| 3 | g.49123215T>C | CA2393863 | LAMB2 | c.4141A>G (p.Ser1381Gly) n.371A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49123215T>G | CA352695943 | LAMB2 | c.4141A>C (p.Ser1381Arg) n.371A>C | |
| 3 | g.49123215T= | CA1363340065 | LAMB2 | c.4141A= (p.Ser1381=) n.371A= | |
| 3 | g.49123216G>A | CA433634096 | LAMB2 | c.4140C>T (p.Asn1380=) n.370C>T | |
| 3 | g.49123216G>C | CA352695956 | LAMB2 | c.4140C>G (p.Asn1380Lys) n.370C>G | |
| 3 | g.49123216G= | CA1363340068 | LAMB2 | c.4140C= (p.Asn1380=) n.370C= | |
| 3 | g.49123216G>T | CA074242 | LAMB2 | c.4140C>A (p.Asn1380Lys) n.370C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123217T>A | CA352695975 | LAMB2 | c.4139A>T (p.Asn1380Ile) n.369A>T | |
| 3 | g.49123217T>C | CA2393864 | LAMB2 | c.4139A>G (p.Asn1380Ser) n.369A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123217T>G | CA352695977 | LAMB2 | c.4139A>C (p.Asn1380Thr) n.369A>C | |
| 3 | g.49123217T= | CA1363340076 | LAMB2 | c.4139A= (p.Asn1380=) n.369A= | |
| 3 | g.49123218T>A | CA352695979 | LAMB2 | c.4138A>T (p.Asn1380Tyr) n.368A>T | |
| 3 | g.49123218T>C | CA352695980 | LAMB2 | c.4138A>G (p.Asn1380Asp) n.368A>G | gnomAD v4 |
| 3 | g.49123218T>G | CA352695983 | LAMB2 | c.4138A>C (p.Asn1380His) n.368A>C | |
| 3 | g.49123219G>A | CA433634103 | LAMB2 | c.4137C>T (p.Phe1379=) n.367C>T | dbSNP |
| 3 | g.49123219G>C | CA352695988 | LAMB2 | c.4137C>G (p.Phe1379Leu) n.367C>G | |
| 3 | g.49123219G= | CA1363340078 | LAMB2 | c.4137C= (p.Phe1379=) n.367C= | |
| 3 | g.49123219G>T | CA352695987 | LAMB2 | c.4137C>A (p.Phe1379Leu) n.367C>A | |
| 3 | g.49123220A>C | CA352695989 | LAMB2 | c.4136T>G (p.Phe1379Cys) n.366T>G | |
| 3 | g.49123220A>G | CA352695993 | LAMB2 | c.4136T>C (p.Phe1379Ser) n.366T>C | |
| 3 | g.49123220A>T | CA352695994 | LAMB2 | c.4136T>A (p.Phe1379Tyr) n.366T>A | |
| 3 | g.49123221A>C | CA352695997 | LAMB2 | c.4135T>G (p.Phe1379Val) n.365T>G | |
| 3 | g.49123221A>G | CA352695999 | LAMB2 | c.4135T>C (p.Phe1379Leu) n.365T>C | |
| 3 | g.49123221A>T | CA352696005 | LAMB2 | c.4135T>A (p.Phe1379Ile) n.365T>A | |
| 3 | g.49123222G>A | CA2393865 | LAMB2 | c.4134C>T (p.Asp1378=) n.364C>T | ClinVar dbSNP ExAC gnomAD v4 |
| 3 | g.49123222G>C | CA352696014 | LAMB2 | c.4134C>G (p.Asp1378Glu) n.364C>G | |
| 3 | g.49123222G= | CA1363340081 | LAMB2 | c.4134C= (p.Asp1378=) n.364C= | |
| 3 | g.49123222G>T | CA352696020 | LAMB2 | c.4134C>A (p.Asp1378Glu) n.364C>A | |
| 3 | g.49123222_49123225delinsGTCC | CA1363340084 | LAMB2 | c.4131_4134delinsGGAC (p.Glu1377=) n.361_364delinsGGAC | |
| 3 | g.49123223T>A | CA352696028 | LAMB2 | c.4133A>T (p.Asp1378Val) n.363A>T | |
| 3 | g.49123223T>C | CA352696033 | LAMB2 | c.4133A>G (p.Asp1378Gly) n.363A>G | ClinVar gnomAD v4 |
| 3 | g.49123223T>G | CA352696025 | LAMB2 | c.4133A>C (p.Asp1378Ala) n.363A>C | |
| 3 | g.49123227_49123229del | CA352696021 | LAMB2 | c.4131_4133del (p.Glu1377del) n.361_363del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123224C>A | CA352696039 | LAMB2 | c.4132G>T (p.Asp1378Tyr) n.362G>T | |
| 3 | g.49123224C= | CA1363340089 | LAMB2 | c.4132G= (p.Asp1378=) n.362G= | |
| 3 | g.49123224C>G | CA352696047 | LAMB2 | c.4132G>C (p.Asp1378His) n.362G>C | |
| 3 | g.49123224C>T | CA352696050 | LAMB2 | c.4132G>A (p.Asp1378Asn) n.362G>A | dbSNP |
| 3 | g.49123225C>A | CA352696057 | LAMB2 | c.4131G>T (p.Glu1377Asp) n.361G>T | |
| 3 | g.49123225C>G | CA352696072 | LAMB2 | c.4131G>C (p.Glu1377Asp) n.361G>C | |
| 3 | g.49123225C>T | CA433634120 | LAMB2 | c.4131G>A (p.Glu1377=) n.361G>A | |
| 3 | g.49123226T>A | CA352696073 | LAMB2 | c.4130A>T (p.Glu1377Val) n.360A>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49123226T>C | CA352696075 | LAMB2 | c.4130A>G (p.Glu1377Gly) n.360A>G | |
| 3 | g.49123226T>G | CA352696078 | LAMB2 | c.4130A>C (p.Glu1377Ala) n.360A>C | |
| 3 | g.49123226T= | CA1363340092 | LAMB2 | c.4130A= (p.Glu1377=) n.360A= | |
| 3 | g.49123227C>A | CA352696083 | LAMB2 | c.4129G>T (p.Glu1377Ter) n.359G>T | |
| 3 | g.49123227C>G | CA352696089 | LAMB2 | c.4129G>C (p.Glu1377Gln) n.359G>C | |
| 3 | g.49123227C>T | CA352696085 | LAMB2 | c.4129G>A (p.Glu1377Lys) n.359G>A | gnomAD v4 |
| 3 | g.49123227_49123230delinsCCTT | CA1363340094 | LAMB2 | c.4126_4129delinsAAGG (p.Lys1376=) n.356_359delinsAAGG | |
| 3 | g.49123228C>A | CA352696093 | LAMB2 | c.4128G>T (p.Lys1376Asn) n.358G>T | |
| 3 | g.49123228C>G | CA352696112 | LAMB2 | c.4128G>C (p.Lys1376Asn) n.358G>C | |
| 3 | g.49123228C>T | CA433634125 | LAMB2 | c.4128G>A (p.Lys1376=) n.358G>A | |
| 3 | g.49123230_49123232del | CA2393866 | LAMB2 | c.4126_4128del (p.Lys1376del) n.356_358del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123229T>A | CA352696124 | LAMB2 | c.4127A>T (p.Lys1376Met) n.357A>T | |
| 3 | g.49123229T>C | CA352696127 | LAMB2 | c.4127A>G (p.Lys1376Arg) n.357A>G | |
| 3 | g.49123229T>G | CA352696132 | LAMB2 | c.4127A>C (p.Lys1376Thr) n.357A>C | |
| 3 | g.49123230T>A | CA352696143 | LAMB2 | c.4126A>T (p.Lys1376Ter) n.356A>T | |
| 3 | g.49123230T>C | CA352696148 | LAMB2 | c.4126A>G (p.Lys1376Glu) n.356A>G | dbSNP gnomAD v4 |
| 3 | g.49123230T>G | CA352696146 | LAMB2 | c.4126A>C (p.Lys1376Gln) n.356A>C | |
| 3 | g.49123230T= | CA1363340098 | LAMB2 | c.4126A= (p.Lys1376=) n.356A= | |
| 3 | g.49123231C>A | CA352696151 | LAMB2 | c.4125G>T (p.Gln1375His) n.355G>T | dbSNP |
| 3 | g.49123231C= | CA1363340100 | LAMB2 | c.4125G= (p.Gln1375=) n.355G= | |
| 3 | g.49123231C>G | CA352696155 | LAMB2 | c.4125G>C (p.Gln1375His) n.355G>C | |
| 3 | g.49123231C>T | CA433634129 | LAMB2 | c.4125G>A (p.Gln1375=) n.355G>A | |
| 3 | g.49123232T>A | CA352696160 | LAMB2 | c.4124A>T (p.Gln1375Leu) n.354A>T | |
| 3 | g.49123232T>C | CA352696174 | LAMB2 | c.4124A>G (p.Gln1375Arg) n.354A>G | |
| 3 | g.49123232T>G | CA352696175 | LAMB2 | c.4124A>C (p.Gln1375Pro) n.354A>C | |
| 3 | g.49123233G>A | CA352696177 | LAMB2 | c.4123C>T (p.Gln1375Ter) n.353C>T | |
| 3 | g.49123233G>C | CA352696179 | LAMB2 | c.4123C>G (p.Gln1375Glu) n.353C>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49123233G= | CA1363340102 | LAMB2 | c.4123C= (p.Gln1375=) n.353C= | |
| 3 | g.49123233G>T | CA352696184 | LAMB2 | c.4123C>A (p.Gln1375Lys) n.353C>A | |
| 3 | g.49123234A>C | CA433634132 | LAMB2 | c.4122T>G (p.Ala1374=) n.352T>G | |
| 3 | g.49123234A>G | CA433634133 | LAMB2 | c.4122T>C (p.Ala1374=) n.352T>C | |
| 3 | g.49123234A>T | CA433634134 | LAMB2 | c.4122T>A (p.Ala1374=) n.352T>A | |
| 3 | g.49123235G>A | CA352696190 | LAMB2 | c.4121C>T (p.Ala1374Val) n.351C>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49123235G>C | CA352696192 | LAMB2 | c.4121C>G (p.Ala1374Gly) n.351C>G | |
| 3 | g.49123235G= | CA1363340104 | LAMB2 | c.4121C= (p.Ala1374=) n.351C= | |
| 3 | g.49123235G>T | CA352696194 | LAMB2 | c.4121C>A (p.Ala1374Asp) n.351C>A | |
| 3 | g.49123236C>A | CA352696198 | LAMB2 | c.4120G>T (p.Ala1374Ser) n.350G>T | |
| 3 | g.49123236C= | CA1363340105 | LAMB2 | c.4120G= (p.Ala1374=) n.350G= | |
| 3 | g.49123236C>G | CA352696201 | LAMB2 | c.4120G>C (p.Ala1374Pro) n.350G>C | |
| 3 | g.49123236C>T | CA74476985 | LAMB2 | c.4120G>A (p.Ala1374Thr) n.350G>A | dbSNP gnomAD v4 |
| 3 | g.49123237A>C | CA352696210 | LAMB2 | c.4119T>G (p.Asp1373Glu) n.349T>G | gnomAD v4 |
| 3 | g.49123237A>G | CA433634138 | LAMB2 | c.4119T>C (p.Asp1373=) n.349T>C | gnomAD v4 |
| 3 | g.49123237A>T | CA352696213 | LAMB2 | c.4119T>A (p.Asp1373Glu) n.349T>A | |
| 3 | g.49123238T>A | CA352696220 | LAMB2 | c.4118A>T (p.Asp1373Val) n.348A>T | |
| 3 | g.49123238T>C | CA2393867 | LAMB2 | c.4118A>G (p.Asp1373Gly) n.348A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.49123238T>G | CA2393868 | LAMB2 | c.4118A>C (p.Asp1373Ala) n.348A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49123238T= | CA1363340107 | LAMB2 | c.4118A= (p.Asp1373=) n.348A= | |
| 3 | g.49123239C>A | CA352696230 | LAMB2 | c.4117G>T (p.Asp1373Tyr) n.347G>T | |
| 3 | g.49123239C>G | CA352696233 | LAMB2 | c.4117G>C (p.Asp1373His) n.347G>C | |
| 3 | g.49123239C>T | CA352696237 | LAMB2 | c.4117G>A (p.Asp1373Asn) n.347G>A | |
| 3 | g.49123240C>A | CA352696238 | LAMB2 | c.4116G>T (p.Met1372Ile) n.346G>T | |
| 3 | g.49123240C>G | CA352696239 | LAMB2 | c.4116G>C (p.Met1372Ile) n.346G>C | |
| 3 | g.49123240C>T | CA352696241 | LAMB2 | c.4116G>A (p.Met1372Ile) n.346G>A | |
| 3 | g.49123241A>C | CA352696247 | LAMB2 | c.4115T>G (p.Met1372Arg) n.345T>G | |
| 3 | g.49123241A>G | CA352696251 | LAMB2 | c.4115T>C (p.Met1372Thr) n.345T>C | gnomAD v4 |
| 3 | g.49123241A>T | CA352696257 | LAMB2 | c.4115T>A (p.Met1372Lys) n.345T>A | |
| 3 | g.49123242T>A | CA352696297 | LAMB2 | c.4114A>T (p.Met1372Leu) n.344A>T | |
| 3 | g.49123242T>C | CA352696293 | LAMB2 | c.4114A>G (p.Met1372Val) n.344A>G | gnomAD v4 |
| 3 | g.49123242T>G | CA352696264 | LAMB2 | c.4114A>C (p.Met1372Leu) n.344A>C | |
| 3 | g.49123243C>A | CA433634144 | LAMB2 | c.4113G>T (p.Leu1371=) n.343G>T | |
| 3 | g.49123243C= | CA1363340110 | LAMB2 | c.4113G= (p.Leu1371=) n.343G= | |
| 3 | g.49123243C>G | CA433634146 | LAMB2 | c.4113G>C (p.Leu1371=) n.343G>C | |
| 3 | g.49123243C>T | CA2393869 | LAMB2 | c.4113G>A (p.Leu1371=) n.343G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123244A= | CA1363340112 | LAMB2 | c.4112T= (p.Leu1371=) n.342T= | |
| 3 | g.49123244A>C | CA352696310 | LAMB2 | c.4112T>G (p.Leu1371Arg) n.342T>G | |
| 3 | g.49123244A>G | CA2393870 | LAMB2 | c.4112T>C (p.Leu1371Pro) n.342T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49123244A>T | CA352696315 | LAMB2 | c.4112T>A (p.Leu1371Gln) n.342T>A | |
| 3 | g.49123245G>A | CA433634148 | LAMB2 | c.4111C>T (p.Leu1371=) n.341C>T | |
| 3 | g.49123245G>C | CA352696330 | LAMB2 | c.4111C>G (p.Leu1371Val) n.341C>G | |
| 3 | g.49123245G= | CA1363340113 | LAMB2 | c.4111C= (p.Leu1371=) n.341C= | |
| 3 | g.49123245G>T | CA2393871 | LAMB2 | c.4111C>A (p.Leu1371Met) n.341C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49123246T>A | CA433634149 | LAMB2 | c.4110A>T (p.Ala1370=) n.340A>T | |
| 3 | g.49123246T>C | CA433634151 | LAMB2 | c.4110A>G (p.Ala1370=) n.340A>G | dbSNP |
| 3 | g.49123246T>G | CA433634154 | LAMB2 | c.4110A>C (p.Ala1370=) n.340A>C | |
| 3 | g.49123246T= | CA1363340115 | LAMB2 | c.4110A= (p.Ala1370=) n.340A= | |
| 3 | g.49123247G>A | CA352696342 | LAMB2 | c.4109C>T (p.Ala1370Val) n.339C>T | |
| 3 | g.49123247G>C | CA352696357 | LAMB2 | c.4109C>G (p.Ala1370Gly) n.339C>G | |
| 3 | g.49123247G>T | CA352696361 | LAMB2 | c.4109C>A (p.Ala1370Glu) n.339C>A | |
| 3 | g.49123248C>A | CA352696366 | LAMB2 | c.4108G>T (p.Ala1370Ser) n.338G>T | |
| 3 | g.49123248C>G | CA352696368 | LAMB2 | c.4108G>C (p.Ala1370Pro) n.338G>C | gnomAD v4 |
| 3 | g.49123248C>T | CA352696372 | LAMB2 | c.4108G>A (p.Ala1370Thr) n.338G>A | COSMIC |
| 3 | g.49123249C>A | CA352696377 | LAMB2 | c.4107G>T (p.Glu1369Asp) n.337G>T | |
| 3 | g.49123249C>G | CA352696381 | LAMB2 | c.4107G>C (p.Glu1369Asp) n.337G>C | |
| 3 | g.49123249C>T | CA433634162 | LAMB2 | c.4107G>A (p.Glu1369=) n.337G>A | |
| 3 | g.49123250T>A | CA352696385 | LAMB2 | c.4106A>T (p.Glu1369Val) n.336A>T | |
| 3 | g.49123250T>C | CA352696386 | LAMB2 | c.4106A>G (p.Glu1369Gly) n.336A>G | |
| 3 | g.49123250T>G | CA352696388 | LAMB2 | c.4106A>C (p.Glu1369Ala) n.336A>C | |
| 3 | g.49123251C>A | CA352696406 | LAMB2 | c.4105G>T (p.Glu1369Ter) n.335G>T | |
| 3 | g.49123251C>G | CA352696393 | LAMB2 | c.4105G>C (p.Glu1369Gln) n.335G>C | |
| 3 | g.49123251C>T | CA352696397 | LAMB2 | c.4105G>A (p.Glu1369Lys) n.335G>A | gnomAD v4 COSMIC |
| 3 | g.49123252T>A | CA433634164 | LAMB2 | c.4104A>T (p.Thr1368=) n.334A>T | |
| 3 | g.49123252T>C | CA433634165 | LAMB2 | c.4104A>G (p.Thr1368=) n.334A>G | |
| 3 | g.49123252T>G | CA433634167 | LAMB2 | c.4104A>C (p.Thr1368=) n.334A>C | |
| 3 | g.49123253G>A | CA352696415 | LAMB2 | c.4103C>T (p.Thr1368Ile) n.333C>T | |
| 3 | g.49123253G>C | CA352696418 | LAMB2 | c.4103C>G (p.Thr1368Arg) n.333C>G | |
| 3 | g.49123253G>T | CA352696421 | LAMB2 | c.4103C>A (p.Thr1368Lys) n.333C>A | |
| 3 | g.49123254T>A | CA352696429 | LAMB2 | c.4102A>T (p.Thr1368Ser) n.332A>T | dbSNP |
| 3 | g.49123254T>C | CA352696436 | LAMB2 | c.4102A>G (p.Thr1368Ala) n.332A>G | |
| 3 | g.49123254T>G | CA352696444 | LAMB2 | c.4102A>C (p.Thr1368Pro) n.332A>C | |
| 3 | g.49123254T= | CA1363340117 | LAMB2 | c.4102A= (p.Thr1368=) n.332A= | |
| 3 | g.49123255C>A | CA433634172 | LAMB2 | c.4101G>T (p.Arg1367=) n.331G>T | |
| 3 | g.49123255C>G | CA433634174 | LAMB2 | c.4101G>C (p.Arg1367=) n.331G>C | |
| 3 | g.49123255C>T | CA433634175 | LAMB2 | c.4101G>A (p.Arg1367=) n.331G>A | |
| 3 | g.49123256C>A | CA352696455 | LAMB2 | c.4100G>T (p.Arg1367Leu) n.330G>T | |
| 3 | g.49123256C= | CA1363340118 | LAMB2 | c.4100G= (p.Arg1367=) n.330G= | |
| 3 | g.49123256C>G | CA2393872 | LAMB2 | c.4100G>C (p.Arg1367Pro) n.330G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123256C>T | CA352696458 | LAMB2 | c.4100G>A (p.Arg1367Gln) n.330G>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49123257G>A | CA2393873 | LAMB2 | c.4099C>T (p.Arg1367Trp) n.329C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123257G>C | CA352696463 | LAMB2 | c.4099C>G (p.Arg1367Gly) n.329C>G | |
| 3 | g.49123257G= | CA1363340120 | LAMB2 | c.4099C= (p.Arg1367=) n.329C= | |
| 3 | g.49123257G>T | CA433634179 | LAMB2 | c.4099C>A (p.Arg1367=) n.329C>A | |
| 3 | g.49123258A>C | CA352696483 | LAMB2 | c.4098T>G (p.His1366Gln) n.328T>G | |
| 3 | g.49123258A>G | CA433634181 | LAMB2 | c.4098T>C (p.His1366=) n.328T>C | gnomAD v4 |
| 3 | g.49123258A>T | CA352696468 | LAMB2 | c.4098T>A (p.His1366Gln) n.328T>A | |
| 3 | g.49123259T>A | CA352696489 | LAMB2 | c.4097A>T (p.His1366Leu) n.327A>T | dbSNP gnomAD v4 |
| 3 | g.49123259T>C | CA2393874 | LAMB2 | c.4097A>G (p.His1366Arg) n.327A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123259T>G | CA352696491 | LAMB2 | c.4097A>C (p.His1366Pro) n.327A>C | |
| 3 | g.49123259T= | CA1363340121 | LAMB2 | c.4097A= (p.His1366=) n.327A= | |
| 3 | g.49123260G>A | CA352696496 | LAMB2 | c.4096C>T (p.His1366Tyr) n.326C>T | |
| 3 | g.49123260G>C | CA352696520 | LAMB2 | c.4096C>G (p.His1366Asp) n.326C>G | |
| 3 | g.49123260G>T | CA352696525 | LAMB2 | c.4096C>A (p.His1366Asn) n.326C>A | |
| 3 | g.49123261C>A | CA433634188 | LAMB2 | c.4095G>T (p.Arg1365=) n.325G>T | |
| 3 | g.49123261C= | CA1363340124 | LAMB2 | c.4095G= (p.Arg1365=) n.325G= | |
| 3 | g.49123261C>G | CA433634187 | LAMB2 | c.4095G>C (p.Arg1365=) n.325G>C | ClinVar dbSNP gnomAD v4 |
| 3 | g.49123261C>T | CA433634184 | LAMB2 | c.4095G>A (p.Arg1365=) n.325G>A | |
| 3 | g.49123262C>A | CA352696548 | LAMB2 | c.4094G>T (p.Arg1365Leu) n.324G>T | gnomAD v4 |
| 3 | g.49123262C= | CA1363340126 | LAMB2 | c.4094G= (p.Arg1365=) n.324G= | |
| 3 | g.49123262C>G | CA352696529 | LAMB2 | c.4094G>C (p.Arg1365Pro) n.324G>C | |
| 3 | g.49123262C>T | CA74477052 | LAMB2 | c.4094G>A (p.Arg1365Gln) n.324G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123263G>A | CA2393875 | LAMB2 | c.4093C>T (p.Arg1365Trp) n.323C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.49123263G>C | CA352696553 | LAMB2 | c.4093C>G (p.Arg1365Gly) n.323C>G | gnomAD v4 |
| 3 | g.49123263G= | CA1363340128 | LAMB2 | c.4093C= (p.Arg1365=) n.323C= | |
| 3 | g.49123263G>T | CA433634190 | LAMB2 | c.4093C>A (p.Arg1365=) n.323C>A | |
| 3 | g.49123264A>C | CA433634191 | LAMB2 | c.4092T>G (p.Ala1364=) n.322T>G | |
| 3 | g.49123264A>G | CA433634193 | LAMB2 | c.4092T>C (p.Ala1364=) n.322T>C | |
| 3 | g.49123264A>T | CA433634192 | LAMB2 | c.4092T>A (p.Ala1364=) n.322T>A | |
| 3 | g.49123265G>A | CA352696556 | LAMB2 | c.4091C>T (p.Ala1364Val) n.321C>T | |
| 3 | g.49123265G>C | CA352696560 | LAMB2 | c.4091C>G (p.Ala1364Gly) n.321C>G | |
| 3 | g.49123265G>T | CA352696572 | LAMB2 | c.4091C>A (p.Ala1364Asp) n.321C>A | |
| 3 | g.49123266C>A | CA352696577 | LAMB2 | c.4090G>T (p.Ala1364Ser) n.320G>T | gnomAD v4 |
| 3 | g.49123266C= | CA1363340130 | LAMB2 | c.4090G= (p.Ala1364=) n.320G= | |
| 3 | g.49123266C>G | CA352696583 | LAMB2 | c.4090G>C (p.Ala1364Pro) n.320G>C | |
| 3 | g.49123266C>T | CA352696581 | LAMB2 | c.4090G>A (p.Ala1364Thr) n.320G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123267A>C | CA352696589 | LAMB2 | c.4089T>G (p.Ser1363Arg) n.319T>G | gnomAD v4 |
| 3 | g.49123267A>G | CA433634201 | LAMB2 | c.4089T>C (p.Ser1363=) n.319T>C | COSMIC |
| 3 | g.49123267A>T | CA352696603 | LAMB2 | c.4089T>A (p.Ser1363Arg) n.319T>A | |
| 3 | g.49123268C>A | CA352696607 | LAMB2 | c.4088G>T (p.Ser1363Ile) n.318G>T | |
| 3 | g.49123268C>G | CA352696608 | LAMB2 | c.4088G>C (p.Ser1363Thr) n.318G>C | gnomAD v4 |
| 3 | g.49123268C>T | CA352696612 | LAMB2 | c.4088G>A (p.Ser1363Asn) n.318G>A | |
| 3 | g.49123269T>A | CA352696619 | LAMB2 | c.4087A>T (p.Ser1363Cys) n.317A>T | |
| 3 | g.49123269T>C | CA352696626 | LAMB2 | c.4087A>G (p.Ser1363Gly) n.317A>G | |
| 3 | g.49123269T>G | CA352696637 | LAMB2 | c.4087A>C (p.Ser1363Arg) n.317A>C | gnomAD v4 |
| 3 | g.49123270T>A | CA433634207 | LAMB2 | c.4086A>T (p.Ala1362=) n.316A>T | |
| 3 | g.49123270T>C | CA433634209 | LAMB2 | c.4086A>G (p.Ala1362=) n.316A>G | |
| 3 | g.49123270T>G | CA433634211 | LAMB2 | c.4086A>C (p.Ala1362=) n.316A>C | |
| 3 | g.49123271G>A | CA352696654 | LAMB2 | c.4085C>T (p.Ala1362Val) n.315C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49123271G>C | CA352696657 | LAMB2 | c.4085C>G (p.Ala1362Gly) n.315C>G | dbSNP |
| 3 | g.49123271G= | CA1363340131 | LAMB2 | c.4085C= (p.Ala1362=) n.315C= | |
| 3 | g.49123271G>T | CA352696662 | LAMB2 | c.4085C>A (p.Ala1362Glu) n.315C>A | |
| 3 | g.49123272C>A | CA352696675 | LAMB2 | c.4084G>T (p.Ala1362Ser) n.314G>T | |
| 3 | g.49123272C= | CA1363340133 | LAMB2 | c.4084G= (p.Ala1362=) n.314G= | |
| 3 | g.49123272C>G | CA2393876 | LAMB2 | c.4084G>C (p.Ala1362Pro) n.314G>C | dbSNP ExAC gnomAD v2 |
| 3 | g.49123272C>T | CA352696671 | LAMB2 | c.4084G>A (p.Ala1362Thr) n.314G>A | |
| 3 | g.49123273C>A | CA433634216 | LAMB2 | c.4083G>T (p.Ser1361=) n.313G>T | |
| 3 | g.49123273C= | CA1363340134 | LAMB2 | c.4083G= (p.Ser1361=) n.313G= | |
| 3 | g.49123273C>G | CA433634217 | LAMB2 | c.4083G>C (p.Ser1361=) n.313G>C | |
| 3 | g.49123273C>T | CA433634218 | LAMB2 | c.4083G>A (p.Ser1361=) n.313G>A | dbSNP gnomAD v4 |