Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.183207931_183207935delinsCACAGCA1211812086LAMC2c.130_134delinsCACAG (p.His44=)
1g.183207935_183207938delCA16040674LAMC2c.134_137del (p.Arg45LysfsTer?)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.183207935G>ACA343669493LAMC2c.134G>A (p.Arg45Lys)
COSMIC
1g.183207935G>CCA343669497LAMC2c.134G>C (p.Arg45Thr)
1g.183207935G>TCA343669499LAMC2c.134G>T (p.Arg45Ile)
1g.183207936A=CA1211812090LAMC2c.135A= (p.Arg45=)
1g.183207936A>CCA343669502LAMC2c.135A>C (p.Arg45Ser)
1g.183207936A>GCA422114003LAMC2c.135A>G (p.Arg45=)
ClinVar dbSNP
1g.183207936A>TCA343669508LAMC2c.135A>T (p.Arg45Ser)
1g.183207937C>ACA343669960LAMC2c.136C>A (p.Gln46Lys)
1g.183207937C>GCA343669962LAMC2c.136C>G (p.Gln46Glu)
gnomAD v4
1g.183207937C>TCA343669964LAMC2c.136C>T (p.Gln46Ter)
ClinVar dbSNP
1g.183207938A=CA1211812091LAMC2c.137A= (p.Gln46=)
1g.183207938A>CCA343669967LAMC2c.137A>C (p.Gln46Pro)
1g.183207938A>GCA343669969LAMC2c.137A>G (p.Gln46Arg)
dbSNP gnomAD v4
1g.183207938A>TCA343669971LAMC2c.137A>T (p.Gln46Leu)
1g.183207939A=CA1211812092LAMC2c.138A= (p.Gln46=)
1g.183207939A>CCA343669974LAMC2c.138A>C (p.Gln46His)
1g.183207939A>GCA1282244LAMC2c.138A>G (p.Gln46=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.183207939A>TCA343669975LAMC2c.138A>T (p.Gln46His)
1g.183207940A=CA1211812093LAMC2c.139A= (p.Thr47=)
1g.183207940A>CCA343669977LAMC2c.139A>C (p.Thr47Pro)
1g.183207940A>GCA1282245LAMC2c.139A>G (p.Thr47Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.183207940A>TCA343669978LAMC2c.139A>T (p.Thr47Ser)
1g.183207941C>ACA343669979LAMC2c.140C>A (p.Thr47Asn)
1g.183207941C>GCA343669980LAMC2c.140C>G (p.Thr47Ser)
1g.183207941C>TCA343669981LAMC2c.140C>T (p.Thr47Ile)
1g.183207942T>ACA422114058LAMC2c.141T>A (p.Thr47=)
1g.183207942T>CCA422114059LAMC2c.141T>C (p.Thr47=)
1g.183207942T>GCA422114061LAMC2c.141T>G (p.Thr47=)
1g.183207943G>ACA343669982LAMC2c.142G>A (p.Gly48Ser)
1g.183207943G>CCA1282246LAMC2c.142G>C (p.Gly48Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.183207943G=CA1211812094LAMC2c.142G= (p.Gly48=)
1g.183207943G>TCA343669983LAMC2c.142G>T (p.Gly48Cys)
dbSNP COSMIC
1g.183207944G>ACA343669984LAMC2c.143G>A (p.Gly48Asp)
dbSNP gnomAD v3 gnomAD v4
1g.183207944G>CCA343669985LAMC2c.143G>C (p.Gly48Ala)
1g.183207944G=CA1211812095LAMC2c.143G= (p.Gly48=)
1g.183207944G>TCA343669986LAMC2c.143G>T (p.Gly48Val)
gnomAD v4
1g.183207945T>ACA422114063LAMC2c.144T>A (p.Gly48=)
1g.183207945T>CCA422114064LAMC2c.144T>C (p.Gly48=)
gnomAD v4
1g.183207945T>GCA422114065LAMC2c.144T>G (p.Gly48=)
1g.183207945T=CA1211812096LAMC2c.144T= (p.Gly48=)
1g.183207946A=CA1211812097LAMC2c.145A= (p.Asn49=)
1g.183207946A>CCA1282247LAMC2c.145A>C (p.Asn49His)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.183207946A>GCA33955346LAMC2c.145A>G (p.Asn49Asp)
dbSNP gnomAD v4
1g.183207946A>TCA343669987LAMC2c.145A>T (p.Asn49Tyr)
1g.183207947_183207951dupCA16040675LAMC2c.146_150dup (p.Phe51MetfsTer?)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.183207947A>CCA343669988LAMC2c.146A>C (p.Asn49Thr)
1g.183207947A>GCA343669989LAMC2c.146A>G (p.Asn49Ser)
1g.183207947A>TCA343669990LAMC2c.146A>T (p.Asn49Ile)

Number of alleles fetched