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