Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.183207931_183207935delinsCACAG | CA1211812086 | LAMC2 | c.130_134delinsCACAG (p.His44=) | |
1 | g.183207935_183207938del | CA16040674 | LAMC2 | c.134_137del (p.Arg45LysfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.183207935G>A | CA343669493 | LAMC2 | c.134G>A (p.Arg45Lys) | COSMIC |
1 | g.183207935G>C | CA343669497 | LAMC2 | c.134G>C (p.Arg45Thr) | |
1 | g.183207935G>T | CA343669499 | LAMC2 | c.134G>T (p.Arg45Ile) | |
1 | g.183207936A= | CA1211812090 | LAMC2 | c.135A= (p.Arg45=) | |
1 | g.183207936A>C | CA343669502 | LAMC2 | c.135A>C (p.Arg45Ser) | |
1 | g.183207936A>G | CA422114003 | LAMC2 | c.135A>G (p.Arg45=) | ClinVar dbSNP |
1 | g.183207936A>T | CA343669508 | LAMC2 | c.135A>T (p.Arg45Ser) | |
1 | g.183207937C>A | CA343669960 | LAMC2 | c.136C>A (p.Gln46Lys) | |
1 | g.183207937C>G | CA343669962 | LAMC2 | c.136C>G (p.Gln46Glu) | gnomAD v4 |
1 | g.183207937C>T | CA343669964 | LAMC2 | c.136C>T (p.Gln46Ter) | ClinVar dbSNP |
1 | g.183207938A= | CA1211812091 | LAMC2 | c.137A= (p.Gln46=) | |
1 | g.183207938A>C | CA343669967 | LAMC2 | c.137A>C (p.Gln46Pro) | |
1 | g.183207938A>G | CA343669969 | LAMC2 | c.137A>G (p.Gln46Arg) | dbSNP gnomAD v4 |
1 | g.183207938A>T | CA343669971 | LAMC2 | c.137A>T (p.Gln46Leu) | |
1 | g.183207939A= | CA1211812092 | LAMC2 | c.138A= (p.Gln46=) | |
1 | g.183207939A>C | CA343669974 | LAMC2 | c.138A>C (p.Gln46His) | |
1 | g.183207939A>G | CA1282244 | LAMC2 | c.138A>G (p.Gln46=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.183207939A>T | CA343669975 | LAMC2 | c.138A>T (p.Gln46His) | |
1 | g.183207940A= | CA1211812093 | LAMC2 | c.139A= (p.Thr47=) | |
1 | g.183207940A>C | CA343669977 | LAMC2 | c.139A>C (p.Thr47Pro) | |
1 | g.183207940A>G | CA1282245 | LAMC2 | c.139A>G (p.Thr47Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.183207940A>T | CA343669978 | LAMC2 | c.139A>T (p.Thr47Ser) | |
1 | g.183207941C>A | CA343669979 | LAMC2 | c.140C>A (p.Thr47Asn) | |
1 | g.183207941C>G | CA343669980 | LAMC2 | c.140C>G (p.Thr47Ser) | |
1 | g.183207941C>T | CA343669981 | LAMC2 | c.140C>T (p.Thr47Ile) | |
1 | g.183207942T>A | CA422114058 | LAMC2 | c.141T>A (p.Thr47=) | |
1 | g.183207942T>C | CA422114059 | LAMC2 | c.141T>C (p.Thr47=) | |
1 | g.183207942T>G | CA422114061 | LAMC2 | c.141T>G (p.Thr47=) | |
1 | g.183207943G>A | CA343669982 | LAMC2 | c.142G>A (p.Gly48Ser) | |
1 | g.183207943G>C | CA1282246 | LAMC2 | c.142G>C (p.Gly48Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.183207943G= | CA1211812094 | LAMC2 | c.142G= (p.Gly48=) | |
1 | g.183207943G>T | CA343669983 | LAMC2 | c.142G>T (p.Gly48Cys) | dbSNP COSMIC |
1 | g.183207944G>A | CA343669984 | LAMC2 | c.143G>A (p.Gly48Asp) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.183207944G>C | CA343669985 | LAMC2 | c.143G>C (p.Gly48Ala) | |
1 | g.183207944G= | CA1211812095 | LAMC2 | c.143G= (p.Gly48=) | |
1 | g.183207944G>T | CA343669986 | LAMC2 | c.143G>T (p.Gly48Val) | gnomAD v4 |
1 | g.183207945T>A | CA422114063 | LAMC2 | c.144T>A (p.Gly48=) | |
1 | g.183207945T>C | CA422114064 | LAMC2 | c.144T>C (p.Gly48=) | gnomAD v4 |
1 | g.183207945T>G | CA422114065 | LAMC2 | c.144T>G (p.Gly48=) | |
1 | g.183207945T= | CA1211812096 | LAMC2 | c.144T= (p.Gly48=) | |
1 | g.183207946A= | CA1211812097 | LAMC2 | c.145A= (p.Asn49=) | |
1 | g.183207946A>C | CA1282247 | LAMC2 | c.145A>C (p.Asn49His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.183207946A>G | CA33955346 | LAMC2 | c.145A>G (p.Asn49Asp) | dbSNP gnomAD v4 |
1 | g.183207946A>T | CA343669987 | LAMC2 | c.145A>T (p.Asn49Tyr) | |
1 | g.183207947_183207951dup | CA16040675 | LAMC2 | c.146_150dup (p.Phe51MetfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.183207947A>C | CA343669988 | LAMC2 | c.146A>C (p.Asn49Thr) | |
1 | g.183207947A>G | CA343669989 | LAMC2 | c.146A>G (p.Asn49Ser) | |
1 | g.183207947A>T | CA343669990 | LAMC2 | c.146A>T (p.Asn49Ile) |