| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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] | ClinVar |
| 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 | 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 |