Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.129427711C>ACA2578737521LAMA2c.5866-41C>A (n.5866-41C>A)
c.6130-41C>A (n.6130-41C>A)
c.6136-41C>A (n.6136-41C>A)
c.4261-41C>A (n.4261-41C>A)
 gnomAD v4
6g.129427711C>GCA2680309227LAMA2c.5866-41C>G (n.5866-41C>G)
c.6130-41C>G (n.6130-41C>G)
c.6136-41C>G (n.6136-41C>G)
c.4261-41C>G (n.4261-41C>G)
 gnomAD v4
6g.129427712T>CCA2680309228LAMA2c.5866-40T>C (n.5866-40T>C)
c.6130-40T>C (n.6130-40T>C)
c.6136-40T>C (n.6136-40T>C)
c.4261-40T>C (n.4261-40T>C)
 gnomAD v4
6g.129427713A=CA1663161407LAMA2c.5866-39A= (n.5866-39A=)
c.6130-39A= (n.6130-39A=)
c.6136-39A= (n.6136-39A=)
c.4261-39A= (n.4261-39A=)
6g.129427713A>GCA3994014LAMA2c.5866-39A>G (n.5866-39A>G)
c.6130-39A>G (n.6130-39A>G)
c.6136-39A>G (n.6136-39A>G)
c.4261-39A>G (n.4261-39A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129427714T>GCA570058702LAMA2c.5866-38T>G (n.5866-38T>G)
c.6130-38T>G (n.6130-38T>G)
c.6136-38T>G (n.6136-38T>G)
c.4261-38T>G (n.4261-38T>G)
 dbSNP gnomAD v2 gnomAD v4
6g.129427714T=CA1663161413LAMA2c.5866-38T= (n.5866-38T=)
c.6130-38T= (n.6130-38T=)
c.6136-38T= (n.6136-38T=)
c.4261-38T= (n.4261-38T=)
6g.129427715G>ACA570058704LAMA2c.5866-37G>A (n.5866-37G>A)
c.6130-37G>A (n.6130-37G>A)
c.6136-37G>A (n.6136-37G>A)
c.4261-37G>A (n.4261-37G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129427715G=CA1663161418LAMA2c.5866-37G= (n.5866-37G=)
c.6130-37G= (n.6130-37G=)
c.6136-37G= (n.6136-37G=)
c.4261-37G= (n.4261-37G=)
6g.129427715G>TCA2680309229LAMA2c.5866-37G>T (n.5866-37G>T)
c.6130-37G>T (n.6130-37G>T)
c.6136-37G>T (n.6136-37G>T)
c.4261-37G>T (n.4261-37G>T)
 gnomAD v4
6g.129427716G>ACA3994015LAMA2c.5866-36G>A (n.5866-36G>A)
c.6130-36G>A (n.6130-36G>A)
c.6136-36G>A (n.6136-36G>A)
c.4261-36G>A (n.4261-36G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129427716G=CA1663161422LAMA2c.5866-36G= (n.5866-36G=)
c.6130-36G= (n.6130-36G=)
c.6136-36G= (n.6136-36G=)
c.4261-36G= (n.4261-36G=)
6g.129427717T>ACA1663161427LAMA2c.5866-35T>A (n.5866-35T>A)
c.6130-35T>A (n.6130-35T>A)
c.6136-35T>A (n.6136-35T>A)
c.4261-35T>A (n.4261-35T>A)
 dbSNP
6g.129427717T=CA1663161429LAMA2c.5866-35T= (n.5866-35T=)
c.6130-35T= (n.6130-35T=)
c.6136-35T= (n.6136-35T=)
c.4261-35T= (n.4261-35T=)
6g.129427720dupCA2680309230LAMA2c.5866-32dup (n.5866-32dup)
c.6130-32dup (n.6130-32dup)
c.6136-32dup (n.6136-32dup)
c.4261-32dup (n.4261-32dup)
 gnomAD v4
6g.129427718T>GCA2680309231LAMA2c.5866-34T>G (n.5866-34T>G)
c.6130-34T>G (n.6130-34T>G)
c.6136-34T>G (n.6136-34T>G)
c.4261-34T>G (n.4261-34T>G)
 gnomAD v4
6g.129427720T>CCA2680309232LAMA2c.5866-32T>C (n.5866-32T>C)
c.6130-32T>C (n.6130-32T>C)
c.6136-32T>C (n.6136-32T>C)
c.4261-32T>C (n.4261-32T>C)
 gnomAD v4
6g.129427721A>CCA2578737522LAMA2c.5866-31A>C (n.5866-31A>C)
c.6130-31A>C (n.6130-31A>C)
c.6136-31A>C (n.6136-31A>C)
c.4261-31A>C (n.4261-31A>C)
 gnomAD v4
6g.129427721A>TCA2578737523LAMA2c.5866-31A>T (n.5866-31A>T)
c.6130-31A>T (n.6130-31A>T)
c.6136-31A>T (n.6136-31A>T)
c.4261-31A>T (n.4261-31A>T)
6g.129427722G>ACA2680309233LAMA2c.5866-30G>A (n.5866-30G>A)
c.6130-30G>A (n.6130-30G>A)
c.6136-30G>A (n.6136-30G>A)
c.4261-30G>A (n.4261-30G>A)
 gnomAD v4
6g.129427722G>CCA2680309234LAMA2c.5866-30G>C (n.5866-30G>C)
c.6130-30G>C (n.6130-30G>C)
c.6136-30G>C (n.6136-30G>C)
c.4261-30G>C (n.4261-30G>C)
 gnomAD v4
6g.129427724T>GCA2680309235LAMA2c.5866-28T>G (n.5866-28T>G)
c.6130-28T>G (n.6130-28T>G)
c.6136-28T>G (n.6136-28T>G)
c.4261-28T>G (n.4261-28T>G)
 gnomAD v4
6g.129427725G>ACA818849758LAMA2c.5866-27G>A (n.5866-27G>A)
c.6130-27G>A (n.6130-27G>A)
c.6136-27G>A (n.6136-27G>A)
c.4261-27G>A (n.4261-27G>A)
 dbSNP gnomAD v3 gnomAD v4
6g.129427725G=CA1663161430LAMA2c.5866-27G= (n.5866-27G=)
c.6130-27G= (n.6130-27G=)
c.6136-27G= (n.6136-27G=)
c.4261-27G= (n.4261-27G=)
6g.129427726T>CCA2680309236LAMA2c.5866-26T>C (n.5866-26T>C)
c.6130-26T>C (n.6130-26T>C)
c.6136-26T>C (n.6136-26T>C)
c.4261-26T>C (n.4261-26T>C)
 gnomAD v4
6g.129427727A>CCA2773037367LAMA2c.5866-25A>C (n.5866-25A>C)
c.6130-25A>C (n.6130-25A>C)
c.6136-25A>C (n.6136-25A>C)
c.4261-25A>C (n.4261-25A>C)
6g.129427729G>ACA818849765LAMA2c.5866-23G>A (n.5866-23G>A)
c.6130-23G>A (n.6130-23G>A)
c.6136-23G>A (n.6136-23G>A)
c.4261-23G>A (n.4261-23G>A)
 dbSNP gnomAD v3 gnomAD v4
6g.129427729G=CA1663161434LAMA2c.5866-23G= (n.5866-23G=)
c.6130-23G= (n.6130-23G=)
c.6136-23G= (n.6136-23G=)
c.4261-23G= (n.4261-23G=)
6g.129427729G>TCA146908917LAMA2c.5866-23G>T (n.5866-23G>T)
c.6130-23G>T (n.6130-23G>T)
c.6136-23G>T (n.6136-23G>T)
c.4261-23G>T (n.4261-23G>T)
 dbSNP gnomAD v3 gnomAD v4
6g.129427730A=CA1663161437LAMA2c.5866-22A= (n.5866-22A=)
c.6130-22A= (n.6130-22A=)
c.6136-22A= (n.6136-22A=)
c.4261-22A= (n.4261-22A=)
6g.129427730A>GCA2680309237LAMA2c.5866-22A>G (n.5866-22A>G)
c.6130-22A>G (n.6130-22A>G)
c.6136-22A>G (n.6136-22A>G)
c.4261-22A>G (n.4261-22A>G)
 gnomAD v4
6g.129427730A>TCA3994016LAMA2c.5866-22A>T (n.5866-22A>T)
c.6130-22A>T (n.6130-22A>T)
c.6136-22A>T (n.6136-22A>T)
c.4261-22A>T (n.4261-22A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129427731C>ACA2680309238LAMA2c.5866-21C>A (n.5866-21C>A)
c.6130-21C>A (n.6130-21C>A)
c.6136-21C>A (n.6136-21C>A)
c.4261-21C>A (n.4261-21C>A)
 gnomAD v4
6g.129427731C>TCA2680309239LAMA2c.5866-21C>T (n.5866-21C>T)
c.6130-21C>T (n.6130-21C>T)
c.6136-21C>T (n.6136-21C>T)
c.4261-21C>T (n.4261-21C>T)
 gnomAD v4
6g.129427732A=CA1663161440LAMA2c.5866-20A= (n.5866-20A=)
c.6130-20A= (n.6130-20A=)
c.6136-20A= (n.6136-20A=)
c.4261-20A= (n.4261-20A=)
6g.129427732A>GCA3994017LAMA2c.5866-20A>G (n.5866-20A>G)
c.6130-20A>G (n.6130-20A>G)
c.6136-20A>G (n.6136-20A>G)
c.4261-20A>G (n.4261-20A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129427732_129427736delinsATTTGCA1663161441LAMA2c.5866-20_5866-16delinsATTTG (n.5866-20_5866-16delinsATTTG)
c.6130-20_6130-16delinsATTTG (n.6130-20_6130-16delinsATTTG)
c.6136-20_6136-16delinsATTTG (n.6136-20_6136-16delinsATTTG)
c.4261-20_4261-16delinsATTTG (n.4261-20_4261-16delinsATTTG)
6g.129427733T>CCA2697553703LAMA2c.5866-19T>C (n.5866-19T>C)
c.6130-19T>C (n.6130-19T>C)
c.6136-19T>C (n.6136-19T>C)
c.4261-19T>C (n.4261-19T>C)
 ClinVar
6g.129427736_129427739delCA917858417LAMA2c.5866-16_5866-13del (n.5866-16_5866-13del)
c.6130-16_6130-13del (n.6130-16_6130-13del)
c.6136-16_6136-13del (n.6136-16_6136-13del)
c.4261-16_4261-13del (n.4261-16_4261-13del)
 dbSNP gnomAD v4
6g.129427736G>ACA3994018LAMA2c.5866-16G>A (n.5866-16G>A)
c.6130-16G>A (n.6130-16G>A)
c.6136-16G>A (n.6136-16G>A)
c.4261-16G>A (n.4261-16G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129427736G>CCA146908944LAMA2c.5866-16G>C (n.5866-16G>C)
c.6130-16G>C (n.6130-16G>C)
c.6136-16G>C (n.6136-16G>C)
c.4261-16G>C (n.4261-16G>C)
 dbSNP gnomAD v4
6g.129427736G=CA1663161442LAMA2c.5866-16G= (n.5866-16G=)
c.6130-16G= (n.6130-16G=)
c.6136-16G= (n.6136-16G=)
c.4261-16G= (n.4261-16G=)
6g.129427737T>CCA3994019LAMA2c.5866-15T>C (n.5866-15T>C)
c.6130-15T>C (n.6130-15T>C)
c.6136-15T>C (n.6136-15T>C)
c.4261-15T>C (n.4261-15T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129427737T=CA1663161446LAMA2c.5866-15T= (n.5866-15T=)
c.6130-15T= (n.6130-15T=)
c.6136-15T= (n.6136-15T=)
c.4261-15T= (n.4261-15T=)
6g.129427738T>CCA2680309240LAMA2c.5866-14T>C (n.5866-14T>C)
c.6130-14T>C (n.6130-14T>C)
c.6136-14T>C (n.6136-14T>C)
c.4261-14T>C (n.4261-14T>C)
 gnomAD v4
6g.129427739T>CCA1663161448LAMA2c.5866-13T>C (n.5866-13T>C)
c.6130-13T>C (n.6130-13T>C)
c.6136-13T>C (n.6136-13T>C)
c.4261-13T>C (n.4261-13T>C)
 ClinVar dbSNP gnomAD v4
6g.129427739T=CA1663161451LAMA2c.5866-13T= (n.5866-13T=)
c.6130-13T= (n.6130-13T=)
c.6136-13T= (n.6136-13T=)
c.4261-13T= (n.4261-13T=)
6g.129427740T>CCA915372520LAMA2c.5866-12T>C (n.5866-12T>C)
c.6130-12T>C (n.6130-12T>C)
c.6136-12T>C (n.6136-12T>C)
c.4261-12T>C (n.4261-12T>C)
 dbSNP gnomAD v2
6g.129427740T=CA1663161456LAMA2c.5866-12T= (n.5866-12T=)
c.6130-12T= (n.6130-12T=)
c.6136-12T= (n.6136-12T=)
c.4261-12T= (n.4261-12T=)
6g.129427742C>ACA2680309241LAMA2c.5866-10C>A (n.5866-10C>A)
c.6130-10C>A (n.6130-10C>A)
c.6136-10C>A (n.6136-10C>A)
c.4261-10C>A (n.4261-10C>A)
 gnomAD v4
6g.129427743T>CCA3994020LAMA2c.5866-9T>C (n.5866-9T>C)
c.6130-9T>C (n.6130-9T>C)
c.6136-9T>C (n.6136-9T>C)
c.4261-9T>C (n.4261-9T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129427743T=CA1663161460LAMA2c.5866-9T= (n.5866-9T=)
c.6130-9T= (n.6130-9T=)
c.6136-9T= (n.6136-9T=)
c.4261-9T= (n.4261-9T=)
6g.129427744G>CCA2680309242LAMA2c.5866-8G>C (n.5866-8G>C)
c.6130-8G>C (n.6130-8G>C)
c.6136-8G>C (n.6136-8G>C)
c.4261-8G>C (n.4261-8G>C)
 gnomAD v4
6g.129427745T>ACA2580075043LAMA2c.5866-7T>A (n.5866-7T>A)
c.6130-7T>A (n.6130-7T>A)
c.6136-7T>A (n.6136-7T>A)
c.4261-7T>A (n.4261-7T>A)
 ClinVar
6g.129427746C>ACA3994021LAMA2c.5866-6C>A (n.5866-6C>A)
c.6130-6C>A (n.6130-6C>A)
c.6136-6C>A (n.6136-6C>A)
c.4261-6C>A (n.4261-6C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129427746C=CA1663161462LAMA2c.5866-6C= (n.5866-6C=)
c.6130-6C= (n.6130-6C=)
c.6136-6C= (n.6136-6C=)
c.4261-6C= (n.4261-6C=)
6g.129427747C=CA1663161466LAMA2c.5866-5C= (n.5866-5C=)
c.6130-5C= (n.6130-5C=)
c.6136-5C= (n.6136-5C=)
c.4261-5C= (n.4261-5C=)
6g.129427747C>TCA1094394924LAMA2c.5866-5C>T (n.5866-5C>T)
c.6130-5C>T (n.6130-5C>T)
c.6136-5C>T (n.6136-5C>T)
c.4261-5C>T (n.4261-5C>T)
 dbSNP gnomAD v3 gnomAD v4
6g.129427749_129427754delCA2578737524LAMA2c.5866-3_5868del
c.6130-3_6132del
c.6136-3_6138del
c.4261-3_4263del
6g.129427748A=CA1663161473LAMA2c.5866-4A= (n.5866-4A=)
c.6130-4A= (n.6130-4A=)
c.6136-4A= (n.6136-4A=)
c.4261-4A= (n.4261-4A=)
6g.129427748A>GCA570058706LAMA2c.5866-4A>G (n.5866-4A>G)
c.6130-4A>G (n.6130-4A>G)
c.6136-4A>G (n.6136-4A>G)
c.4261-4A>G (n.4261-4A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129427749C>ACA2680309243LAMA2c.5866-3C>A (n.5866-3C>A)
c.6130-3C>A (n.6130-3C>A)
c.6136-3C>A (n.6136-3C>A)
c.4261-3C>A (n.4261-3C>A)
 gnomAD v4
6g.129427749C>GCA2773037368LAMA2c.5866-3C>G (n.5866-3C>G)
c.6130-3C>G (n.6130-3C>G)
c.6136-3C>G (n.6136-3C>G)
c.4261-3C>G (n.4261-3C>G)
6g.129427749C>TCA2680309244LAMA2c.5866-3C>T (n.5866-3C>T)
c.6130-3C>T (n.6130-3C>T)
c.6136-3C>T (n.6136-3C>T)
c.4261-3C>T (n.4261-3C>T)
 gnomAD v4
6g.129427750A=CA1663161480LAMA2c.5866-2A= (n.5866-2A=)
c.6130-2A= (n.6130-2A=)
c.6136-2A= (n.6136-2A=)
c.4261-2A= (n.4261-2A=)
6g.129427750A>CCA365623860LAMA2c.5866-2A>C (n.5866-2A>C)
c.6130-2A>C (n.6130-2A>C)
c.6136-2A>C (n.6136-2A>C)
c.4261-2A>C (n.4261-2A>C)
6g.129427750A>GCA365623861LAMA2c.5866-2A>G (n.5866-2A>G)
c.6130-2A>G (n.6130-2A>G)
c.6136-2A>G (n.6136-2A>G)
c.4261-2A>G (n.4261-2A>G)
 ClinVar dbSNP gnomAD v4
6g.129427750A>TCA365623862LAMA2c.5866-2A>T (n.5866-2A>T)
c.6130-2A>T (n.6130-2A>T)
c.6136-2A>T (n.6136-2A>T)
c.4261-2A>T (n.4261-2A>T)
6g.129427751G>ACA16618242LAMA2c.5866-1G>A (n.5866-1G>A)
c.6130-1G>A (n.6130-1G>A)
c.6136-1G>A (n.6136-1G>A)
c.4261-1G>A (n.4261-1G>A)
 ClinVar dbSNP gnomAD v4
6g.129427751G>CCA365623863LAMA2c.5866-1G>C (n.5866-1G>C)
c.6130-1G>C (n.6130-1G>C)
c.6136-1G>C (n.6136-1G>C)
c.4261-1G>C (n.4261-1G>C)
6g.129427751G=CA1663161490LAMA2c.5866-1G= (n.5866-1G=)
c.6130-1G= (n.6130-1G=)
c.6136-1G= (n.6136-1G=)
c.4261-1G= (n.4261-1G=)
6g.129427751G>TCA365623864LAMA2c.5866-1G>T (n.5866-1G>T)
c.6130-1G>T (n.6130-1G>T)
c.6136-1G>T (n.6136-1G>T)
c.4261-1G>T (n.4261-1G>T)
6g.129427752G>ACA365623865LAMA2c.5866G>A (p.Ala1956Thr)
c.6130G>A (p.Ala2044Thr)
c.6136G>A (p.Ala2046Thr)
c.4261G>A (p.Ala1421Thr)
 gnomAD v4
6g.129427752G>CCA365623866LAMA2c.5866G>C (p.Ala1956Pro)
c.6130G>C (p.Ala2044Pro)
c.6136G>C (p.Ala2046Pro)
c.4261G>C (p.Ala1421Pro)
6g.129427752G>TCA365623867LAMA2c.5866G>T (p.Ala1956Ser)
c.6130G>T (p.Ala2044Ser)
c.6136G>T (p.Ala2046Ser)
c.4261G>T (p.Ala1421Ser)
 ClinVar dbSNP
6g.129427753C>ACA365623868LAMA2c.5867C>A (p.Ala1956Glu)
c.6131C>A (p.Ala2044Glu)
c.6137C>A (p.Ala2046Glu)
c.4262C>A (p.Ala1421Glu)
 gnomAD v4
6g.129427753C=CA1663161497LAMA2c.5867C= (p.Ala1956=)
c.6131C= (p.Ala2044=)
c.6137C= (p.Ala2046=)
c.4262C= (p.Ala1421=)
6g.129427753C>GCA365623869LAMA2c.5867C>G (p.Ala1956Gly)
c.6131C>G (p.Ala2044Gly)
c.6137C>G (p.Ala2046Gly)
c.4262C>G (p.Ala1421Gly)
6g.129427753C>TCA365623870LAMA2c.5867C>T (p.Ala1956Val)
c.6131C>T (p.Ala2044Val)
c.6137C>T (p.Ala2046Val)
c.4262C>T (p.Ala1421Val)
 dbSNP gnomAD v4
6g.129427754A>CCA451930395LAMA2c.5868A>C (p.Ala1956=)
c.6132A>C (p.Ala2044=)
c.6138A>C (p.Ala2046=)
c.4263A>C (p.Ala1421=)
6g.129427754A>GCA451930397LAMA2c.5868A>G (p.Ala1956=)
c.6132A>G (p.Ala2044=)
c.6138A>G (p.Ala2046=)
c.4263A>G (p.Ala1421=)
6g.129427754A>TCA451930399LAMA2c.5868A>T (p.Ala1956=)
c.6132A>T (p.Ala2044=)
c.6138A>T (p.Ala2046=)
c.4263A>T (p.Ala1421=)
6g.129427755A=CA1663161511LAMA2c.5869A= (p.Thr1957=)
c.6133A= (p.Thr2045=)
c.6139A= (p.Thr2047=)
c.4264A= (p.Thr1422=)
6g.129427755A>CCA365623873LAMA2c.5869A>C (p.Thr1957Pro)
c.6133A>C (p.Thr2045Pro)
c.6139A>C (p.Thr2047Pro)
c.4264A>C (p.Thr1422Pro)
6g.129427755A>GCA365623871LAMA2c.5869A>G (p.Thr1957Ala)
c.6133A>G (p.Thr2045Ala)
c.6139A>G (p.Thr2047Ala)
c.4264A>G (p.Thr1422Ala)
 dbSNP gnomAD v4
6g.129427755A>TCA365623872LAMA2c.5869A>T (p.Thr1957Ser)
c.6133A>T (p.Thr2045Ser)
c.6139A>T (p.Thr2047Ser)
c.4264A>T (p.Thr1422Ser)
6g.129427756C>ACA365623874LAMA2c.5870C>A (p.Thr1957Lys)
c.6134C>A (p.Thr2045Lys)
c.6140C>A (p.Thr2047Lys)
c.4265C>A (p.Thr1422Lys)
6g.129427756C=CA1663161519LAMA2c.5870C= (p.Thr1957=)
c.6134C= (p.Thr2045=)
c.6140C= (p.Thr2047=)
c.4265C= (p.Thr1422=)
6g.129427756C>GCA365623875LAMA2c.5870C>G (p.Thr1957Arg)
c.6134C>G (p.Thr2045Arg)
c.6140C>G (p.Thr2047Arg)
c.4265C>G (p.Thr1422Arg)
 dbSNP gnomAD v3 gnomAD v4
6g.129427756C>TCA365623876LAMA2c.5870C>T (p.Thr1957Ile)
c.6134C>T (p.Thr2045Ile)
c.6140C>T (p.Thr2047Ile)
c.4265C>T (p.Thr1422Ile)
 ClinVar
6g.129427757A>CCA451930411LAMA2c.5871A>C (p.Thr1957=)
c.6135A>C (p.Thr2045=)
c.6141A>C (p.Thr2047=)
c.4266A>C (p.Thr1422=)
6g.129427757A>GCA451930413LAMA2c.5871A>G (p.Thr1957=)
c.6135A>G (p.Thr2045=)
c.6141A>G (p.Thr2047=)
c.4266A>G (p.Thr1422=)
 gnomAD v4
6g.129427757A>TCA451930414LAMA2c.5871A>T (p.Thr1957=)
c.6135A>T (p.Thr2045=)
c.6141A>T (p.Thr2047=)
c.4266A>T (p.Thr1422=)
6g.129427758G>ACA365623877LAMA2c.5872G>A (p.Gly1958Ser)
c.6136G>A (p.Gly2046Ser)
c.6142G>A (p.Gly2048Ser)
c.4267G>A (p.Gly1423Ser)
6g.129427758G>CCA365623878LAMA2c.5872G>C (p.Gly1958Arg)
c.6136G>C (p.Gly2046Arg)
c.6142G>C (p.Gly2048Arg)
c.4267G>C (p.Gly1423Arg)
6g.129427758G>TCA365623879LAMA2c.5872G>T (p.Gly1958Cys)
c.6136G>T (p.Gly2046Cys)
c.6142G>T (p.Gly2048Cys)
c.4267G>T (p.Gly1423Cys)
6g.129427759G>ACA3994022LAMA2c.5873G>A (p.Gly1958Asp)
c.6137G>A (p.Gly2046Asp)
c.6143G>A (p.Gly2048Asp)
c.4268G>A (p.Gly1423Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129427759G>CCA365623880LAMA2c.5873G>C (p.Gly1958Ala)
c.6137G>C (p.Gly2046Ala)
c.6143G>C (p.Gly2048Ala)
c.4268G>C (p.Gly1423Ala)
6g.129427759G=CA1663161525LAMA2c.5873G= (p.Gly1958=)
c.6137G= (p.Gly2046=)
c.6143G= (p.Gly2048=)
c.4268G= (p.Gly1423=)
6g.129427759G>TCA365623881LAMA2c.5873G>T (p.Gly1958Val)
c.6137G>T (p.Gly2046Val)
c.6143G>T (p.Gly2048Val)
c.4268G>T (p.Gly1423Val)
6g.129427760T>ACA451930432LAMA2c.5874T>A (p.Gly1958=)
c.6138T>A (p.Gly2046=)
c.6144T>A (p.Gly2048=)
c.4269T>A (p.Gly1423=)
6g.129427760T>CCA451930435LAMA2c.5874T>C (p.Gly1958=)
c.6138T>C (p.Gly2046=)
c.6144T>C (p.Gly2048=)
c.4269T>C (p.Gly1423=)
6g.129427760T>GCA451930436LAMA2c.5874T>G (p.Gly1958=)
c.6138T>G (p.Gly2046=)
c.6144T>G (p.Gly2048=)
c.4269T>G (p.Gly1423=)
6g.129427761C>ACA365623882LAMA2c.5875C>A (p.Pro1959Thr)
c.6139C>A (p.Pro2047Thr)
c.6145C>A (p.Pro2049Thr)
c.4270C>A (p.Pro1424Thr)
6g.129427761C>GCA365623883LAMA2c.5875C>G (p.Pro1959Ala)
c.6139C>G (p.Pro2047Ala)
c.6145C>G (p.Pro2049Ala)
c.4270C>G (p.Pro1424Ala)
6g.129427761C>TCA365623884LAMA2c.5875C>T (p.Pro1959Ser)
c.6139C>T (p.Pro2047Ser)
c.6145C>T (p.Pro2049Ser)
c.4270C>T (p.Pro1424Ser)
6g.129427762C>ACA365623887LAMA2c.5876C>A (p.Pro1959His)
c.6140C>A (p.Pro2047His)
c.6146C>A (p.Pro2049His)
c.4271C>A (p.Pro1424His)
 COSMIC
6g.129427762C>GCA365623885LAMA2c.5876C>G (p.Pro1959Arg)
c.6140C>G (p.Pro2047Arg)
c.6146C>G (p.Pro2049Arg)
c.4271C>G (p.Pro1424Arg)
6g.129427762C>TCA365623886LAMA2c.5876C>T (p.Pro1959Leu)
c.6140C>T (p.Pro2047Leu)
c.6146C>T (p.Pro2049Leu)
c.4271C>T (p.Pro1424Leu)
6g.129427763T>ACA451930451LAMA2c.5877T>A (p.Pro1959=)
c.6141T>A (p.Pro2047=)
c.6147T>A (p.Pro2049=)
c.4272T>A (p.Pro1424=)
 dbSNP gnomAD v3 gnomAD v4
6g.129427763T>CCA451930457LAMA2c.5877T>C (p.Pro1959=)
c.6141T>C (p.Pro2047=)
c.6147T>C (p.Pro2049=)
c.4272T>C (p.Pro1424=)
 ClinVar gnomAD v4
6g.129427763T>GCA451930454LAMA2c.5877T>G (p.Pro1959=)
c.6141T>G (p.Pro2047=)
c.6147T>G (p.Pro2049=)
c.4272T>G (p.Pro1424=)
6g.129427763T=CA1663161531LAMA2c.5877T= (p.Pro1959=)
c.6141T= (p.Pro2047=)
c.6147T= (p.Pro2049=)
c.4272T= (p.Pro1424=)
6g.129427764C>ACA451930460LAMA2c.5878C>A (p.Arg1960=)
c.6142C>A (p.Arg2048=)
c.6148C>A (p.Arg2050=)
c.4273C>A (p.Arg1425=)
 dbSNP gnomAD v2 gnomAD v4
6g.129427764C=CA1663161538LAMA2c.5878C= (p.Arg1960=)
c.6142C= (p.Arg2048=)
c.6148C= (p.Arg2050=)
c.4273C= (p.Arg1425=)
6g.129427764C>GCA365623888LAMA2c.5878C>G (p.Arg1960Gly)
c.6142C>G (p.Arg2048Gly)
c.6148C>G (p.Arg2050Gly)
c.4273C>G (p.Arg1425Gly)
6g.129427764C>TCA146909005LAMA2c.5878C>T (p.Arg1960Trp)
c.6142C>T (p.Arg2048Trp)
c.6148C>T (p.Arg2050Trp)
c.4273C>T (p.Arg1425Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129427765G>ACA3994023LAMA2c.5879G>A (p.Arg1960Gln)
c.6143G>A (p.Arg2048Gln)
c.6149G>A (p.Arg2050Gln)
c.4274G>A (p.Arg1425Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129427765G>CCA365623889LAMA2c.5879G>C (p.Arg1960Pro)
c.6143G>C (p.Arg2048Pro)
c.6149G>C (p.Arg2050Pro)
c.4274G>C (p.Arg1425Pro)
6g.129427765G=CA1663161542LAMA2c.5879G= (p.Arg1960=)
c.6143G= (p.Arg2048=)
c.6149G= (p.Arg2050=)
c.4274G= (p.Arg1425=)
6g.129427765G>TCA365623890LAMA2c.5879G>T (p.Arg1960Leu)
c.6143G>T (p.Arg2048Leu)
c.6149G>T (p.Arg2050Leu)
c.4274G>T (p.Arg1425Leu)
6g.129427766G>ACA451930477LAMA2c.5880G>A (p.Arg1960=)
c.6144G>A (p.Arg2048=)
c.6150G>A (p.Arg2050=)
c.4275G>A (p.Arg1425=)
 ClinVar dbSNP gnomAD v4
6g.129427766G>CCA451930483LAMA2c.5880G>C (p.Arg1960=)
c.6144G>C (p.Arg2048=)
c.6150G>C (p.Arg2050=)
c.4275G>C (p.Arg1425=)
6g.129427766G>TCA451930486LAMA2c.5880G>T (p.Arg1960=)
c.6144G>T (p.Arg2048=)
c.6150G>T (p.Arg2050=)
c.4275G>T (p.Arg1425=)
6g.129427767G>ACA3994024LAMA2c.5881G>A (p.Gly1961Ser)
c.6145G>A (p.Gly2049Ser)
c.6151G>A (p.Gly2051Ser)
c.4276G>A (p.Gly1426Ser)
 dbSNP ExAC gnomAD v2
6g.129427767G>CCA365623891LAMA2c.5881G>C (p.Gly1961Arg)
c.6145G>C (p.Gly2049Arg)
c.6151G>C (p.Gly2051Arg)
c.4276G>C (p.Gly1426Arg)
6g.129427767G=CA1663161545LAMA2c.5881G= (p.Gly1961=)
c.6145G= (p.Gly2049=)
c.6151G= (p.Gly2051=)
c.4276G= (p.Gly1426=)
6g.129427767G>TCA3994025LAMA2c.5881G>T (p.Gly1961Cys)
c.6145G>T (p.Gly2049Cys)
c.6151G>T (p.Gly2051Cys)
c.4276G>T (p.Gly1426Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129427768G>ACA365623892LAMA2c.5882G>A (p.Gly1961Asp)
c.6146G>A (p.Gly2049Asp)
c.6152G>A (p.Gly2051Asp)
c.4277G>A (p.Gly1426Asp)
6g.129427768G>CCA365623893LAMA2c.5882G>C (p.Gly1961Ala)
c.6146G>C (p.Gly2049Ala)
c.6152G>C (p.Gly2051Ala)
c.4277G>C (p.Gly1426Ala)
6g.129427768G=CA1663161548LAMA2c.5882G= (p.Gly1961=)
c.6146G= (p.Gly2049=)
c.6152G= (p.Gly2051=)
c.4277G= (p.Gly1426=)
6g.129427768G>TCA365623894LAMA2c.5882G>T (p.Gly1961Val)
c.6146G>T (p.Gly2049Val)
c.6152G>T (p.Gly2051Val)
c.4277G>T (p.Gly1426Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129427769T>ACA451930502LAMA2c.5883T>A (p.Gly1961=)
c.6147T>A (p.Gly2049=)
c.6153T>A (p.Gly2051=)
c.4278T>A (p.Gly1426=)
6g.129427769T>CCA451930504LAMA2c.5883T>C (p.Gly1961=)
c.6147T>C (p.Gly2049=)
c.6153T>C (p.Gly2051=)
c.4278T>C (p.Gly1426=)
6g.129427769T>GCA451930507LAMA2c.5883T>G (p.Gly1961=)
c.6147T>G (p.Gly2049=)
c.6153T>G (p.Gly2051=)
c.4278T>G (p.Gly1426=)
6g.129427770T>ACA365623895LAMA2c.5884T>A (p.Leu1962Ile)
c.6148T>A (p.Leu2050Ile)
c.6154T>A (p.Leu2052Ile)
c.4279T>A (p.Leu1427Ile)
6g.129427770T>CCA451930509LAMA2c.5884T>C (p.Leu1962=)
c.6148T>C (p.Leu2050=)
c.6154T>C (p.Leu2052=)
c.4279T>C (p.Leu1427=)
6g.129427770T>GCA365623896LAMA2c.5884T>G (p.Leu1962Val)
c.6148T>G (p.Leu2050Val)
c.6154T>G (p.Leu2052Val)
c.4279T>G (p.Leu1427Val)
6g.129427771T>ACA365623897LAMA2c.5885T>A (p.Leu1962Ter)
c.6149T>A (p.Leu2050Ter)
c.6155T>A (p.Leu2052Ter)
c.4280T>A (p.Leu1427Ter)
6g.129427771T>CCA365623898LAMA2c.5885T>C (p.Leu1962Ser)
c.6149T>C (p.Leu2050Ser)
c.6155T>C (p.Leu2052Ser)
c.4280T>C (p.Leu1427Ser)
 dbSNP gnomAD v3 gnomAD v4
6g.129427771T>GCA365623899LAMA2c.5885T>G (p.Leu1962Ter)
c.6149T>G (p.Leu2050Ter)
c.6155T>G (p.Leu2052Ter)
c.4280T>G (p.Leu1427Ter)
6g.129427771T=CA1663161552LAMA2c.5885T= (p.Leu1962=)
c.6149T= (p.Leu2050=)
c.6155T= (p.Leu2052=)
c.4280T= (p.Leu1427=)
6g.129427772A=CA1663161559LAMA2c.5886A= (p.Leu1962=)
c.6150A= (p.Leu2050=)
c.6156A= (p.Leu2052=)
c.4281A= (p.Leu1427=)
6g.129427772A>CCA365623900LAMA2c.5886A>C (p.Leu1962Phe)
c.6150A>C (p.Leu2050Phe)
c.6156A>C (p.Leu2052Phe)
c.4281A>C (p.Leu1427Phe)
6g.129427772A>GCA451930517LAMA2c.5886A>G (p.Leu1962=)
c.6150A>G (p.Leu2050=)
c.6156A>G (p.Leu2052=)
c.4281A>G (p.Leu1427=)
 dbSNP gnomAD v2
6g.129427772A>TCA365623901LAMA2c.5886A>T (p.Leu1962Phe)
c.6150A>T (p.Leu2050Phe)
c.6156A>T (p.Leu2052Phe)
c.4281A>T (p.Leu1427Phe)
6g.129427773T>ACA365623902LAMA2c.5887T>A (p.Leu1963Ile)
c.6151T>A (p.Leu2051Ile)
c.6157T>A (p.Leu2053Ile)
c.4282T>A (p.Leu1428Ile)
6g.129427773T>CCA451930529LAMA2c.5887T>C (p.Leu1963=)
c.6151T>C (p.Leu2051=)
c.6157T>C (p.Leu2053=)
c.4282T>C (p.Leu1428=)
 dbSNP
6g.129427773T>GCA365623903LAMA2c.5887T>G (p.Leu1963Val)
c.6151T>G (p.Leu2051Val)
c.6157T>G (p.Leu2053Val)
c.4282T>G (p.Leu1428Val)
6g.129427773T=CA1663161562LAMA2c.5887T= (p.Leu1963=)
c.6151T= (p.Leu2051=)
c.6157T= (p.Leu2053=)
c.4282T= (p.Leu1428=)
6g.129427774T>ACA365623904LAMA2c.5888T>A (p.Leu1963Ter)
c.6152T>A (p.Leu2051Ter)
c.6158T>A (p.Leu2053Ter)
c.4283T>A (p.Leu1428Ter)
6g.129427774T>CCA365623905LAMA2c.5888T>C (p.Leu1963Ser)
c.6152T>C (p.Leu2051Ser)
c.6158T>C (p.Leu2053Ser)
c.4283T>C (p.Leu1428Ser)
6g.129427774T>GCA365623906LAMA2c.5888T>G (p.Leu1963Ter)
c.6152T>G (p.Leu2051Ter)
c.6158T>G (p.Leu2053Ter)
c.4283T>G (p.Leu1428Ter)
6g.129427775A>CCA365623907LAMA2c.5889A>C (p.Leu1963Phe)
c.6153A>C (p.Leu2051Phe)
c.6159A>C (p.Leu2053Phe)
c.4284A>C (p.Leu1428Phe)
6g.129427775A>GCA451930542LAMA2c.5889A>G (p.Leu1963=)
c.6153A>G (p.Leu2051=)
c.6159A>G (p.Leu2053=)
c.4284A>G (p.Leu1428=)
6g.129427775A>TCA365623908LAMA2c.5889A>T (p.Leu1963Phe)
c.6153A>T (p.Leu2051Phe)
c.6159A>T (p.Leu2053Phe)
c.4284A>T (p.Leu1428Phe)
6g.129427776A>CCA365623909LAMA2c.5890A>C (p.Lys1964Gln)
c.6154A>C (p.Lys2052Gln)
c.6160A>C (p.Lys2054Gln)
c.4285A>C (p.Lys1429Gln)
6g.129427776A>GCA365623910LAMA2c.5890A>G (p.Lys1964Glu)
c.6154A>G (p.Lys2052Glu)
c.6160A>G (p.Lys2054Glu)
c.4285A>G (p.Lys1429Glu)
6g.129427776A>TCA365623911LAMA2c.5890A>T (p.Lys1964Ter)
c.6154A>T (p.Lys2052Ter)
c.6160A>T (p.Lys2054Ter)
c.4285A>T (p.Lys1429Ter)
6g.129427779_129427782delCA2680309245LAMA2c.5893_5896del (p.Glu1965MetfsTer19)
c.6157_6160del (p.Glu2053MetfsTer19)
c.6163_6166del (p.Glu2055MetfsTer19)
c.4288_4291del (p.Glu1430MetfsTer19)
 gnomAD v4
6g.129427777A>CCA365623912LAMA2c.5891A>C (p.Lys1964Thr)
c.6155A>C (p.Lys2052Thr)
c.6161A>C (p.Lys2054Thr)
c.4286A>C (p.Lys1429Thr)
6g.129427777A>GCA365623913LAMA2c.5891A>G (p.Lys1964Arg)
c.6155A>G (p.Lys2052Arg)
c.6161A>G (p.Lys2054Arg)
c.4286A>G (p.Lys1429Arg)
6g.129427777A>TCA365623914LAMA2c.5891A>T (p.Lys1964Met)
c.6155A>T (p.Lys2052Met)
c.6161A>T (p.Lys2054Met)
c.4286A>T (p.Lys1429Met)
6g.129427778G>ACA451930575LAMA2c.5892G>A (p.Lys1964=)
c.6156G>A (p.Lys2052=)
c.6162G>A (p.Lys2054=)
c.4287G>A (p.Lys1429=)
 COSMIC
6g.129427778G>CCA365623916LAMA2c.5892G>C (p.Lys1964Asn)
c.6156G>C (p.Lys2052Asn)
c.6162G>C (p.Lys2054Asn)
c.4287G>C (p.Lys1429Asn)
6g.129427778G>TCA365623915LAMA2c.5892G>T (p.Lys1964Asn)
c.6156G>T (p.Lys2052Asn)
c.6162G>T (p.Lys2054Asn)
c.4287G>T (p.Lys1429Asn)
6g.129427779G>ACA10621369LAMA2c.5893G>A (p.Glu1965Lys)
c.6157G>A (p.Glu2053Lys)
c.6163G>A (p.Glu2055Lys)
c.4288G>A (p.Glu1430Lys)
 ClinVar dbSNP gnomAD v4
6g.129427779G>CCA365623917LAMA2c.5893G>C (p.Glu1965Gln)
c.6157G>C (p.Glu2053Gln)
c.6163G>C (p.Glu2055Gln)
c.4288G>C (p.Glu1430Gln)
6g.129427779G=CA1663161565LAMA2c.5893G= (p.Glu1965=)
c.6157G= (p.Glu2053=)
c.6163G= (p.Glu2055=)
c.4288G= (p.Glu1430=)
6g.129427779G>TCA365623918LAMA2c.5893G>T (p.Glu1965Ter)
c.6157G>T (p.Glu2053Ter)
c.6163G>T (p.Glu2055Ter)
c.4288G>T (p.Glu1430Ter)
6g.129427780A>CCA365623919LAMA2c.5894A>C (p.Glu1965Ala)
c.6158A>C (p.Glu2053Ala)
c.6164A>C (p.Glu2055Ala)
c.4289A>C (p.Glu1430Ala)
6g.129427780A>GCA365623920LAMA2c.5894A>G (p.Glu1965Gly)
c.6158A>G (p.Glu2053Gly)
c.6164A>G (p.Glu2055Gly)
c.4289A>G (p.Glu1430Gly)
6g.129427780A>TCA365623921LAMA2c.5894A>T (p.Glu1965Val)
c.6158A>T (p.Glu2053Val)
c.6164A>T (p.Glu2055Val)
c.4289A>T (p.Glu1430Val)
6g.129427781A=CA1663161577LAMA2c.5895A= (p.Glu1965=)
c.6159A= (p.Glu2053=)
c.6165A= (p.Glu2055=)
c.4290A= (p.Glu1430=)
6g.129427781A>CCA365623922LAMA2c.5895A>C (p.Glu1965Asp)
c.6159A>C (p.Glu2053Asp)
c.6165A>C (p.Glu2055Asp)
c.4290A>C (p.Glu1430Asp)
6g.129427781A>GCA451930597LAMA2c.5895A>G (p.Glu1965=)
c.6159A>G (p.Glu2053=)
c.6165A>G (p.Glu2055=)
c.4290A>G (p.Glu1430=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.129427781A>TCA365623923LAMA2c.5895A>T (p.Glu1965Asp)
c.6159A>T (p.Glu2053Asp)
c.6165A>T (p.Glu2055Asp)
c.4290A>T (p.Glu1430Asp)
6g.129427782G>ACA365623924LAMA2c.5896G>A (p.Asp1966Asn)
c.6160G>A (p.Asp2054Asn)
c.6166G>A (p.Asp2056Asn)
c.4291G>A (p.Asp1431Asn)
 COSMIC
6g.129427782G>CCA365623925LAMA2c.5896G>C (p.Asp1966His)
c.6160G>C (p.Asp2054His)
c.6166G>C (p.Asp2056His)
c.4291G>C (p.Asp1431His)
6g.129427782G>TCA365623926LAMA2c.5896G>T (p.Asp1966Tyr)
c.6160G>T (p.Asp2054Tyr)
c.6166G>T (p.Asp2056Tyr)
c.4291G>T (p.Asp1431Tyr)
 COSMIC
6g.129427783A>CCA365623927LAMA2c.5897A>C (p.Asp1966Ala)
c.6161A>C (p.Asp2054Ala)
c.6167A>C (p.Asp2056Ala)
c.4292A>C (p.Asp1431Ala)
6g.129427783A>GCA365623928LAMA2c.5897A>G (p.Asp1966Gly)
c.6161A>G (p.Asp2054Gly)
c.6167A>G (p.Asp2056Gly)
c.4292A>G (p.Asp1431Gly)
6g.129427783A>TCA365623929LAMA2c.5897A>T (p.Asp1966Val)
c.6161A>T (p.Asp2054Val)
c.6167A>T (p.Asp2056Val)
c.4292A>T (p.Asp1431Val)
6g.129427784T>ACA365623931LAMA2c.5898T>A (p.Asp1966Glu)
c.6162T>A (p.Asp2054Glu)
c.6168T>A (p.Asp2056Glu)
c.4293T>A (p.Asp1431Glu)
 dbSNP
6g.129427784T>CCA451930615LAMA2c.5898T>C (p.Asp1966=)
c.6162T>C (p.Asp2054=)
c.6168T>C (p.Asp2056=)
c.4293T>C (p.Asp1431=)
6g.129427784T>GCA365623930LAMA2c.5898T>G (p.Asp1966Glu)
c.6162T>G (p.Asp2054Glu)
c.6168T>G (p.Asp2056Glu)
c.4293T>G (p.Asp1431Glu)
6g.129427784T=CA1663161581LAMA2c.5898T= (p.Asp1966=)
c.6162T= (p.Asp2054=)
c.6168T= (p.Asp2056=)
c.4293T= (p.Asp1431=)
6g.129427785G>ACA365623932LAMA2c.5899G>A (p.Ala1967Thr)
c.6163G>A (p.Ala2055Thr)
c.6169G>A (p.Ala2057Thr)
c.4294G>A (p.Ala1432Thr)
6g.129427785G>CCA365623933LAMA2c.5899G>C (p.Ala1967Pro)
c.6163G>C (p.Ala2055Pro)
c.6169G>C (p.Ala2057Pro)
c.4294G>C (p.Ala1432Pro)
6g.129427785G=CA1663161589LAMA2c.5899G= (p.Ala1967=)
c.6163G= (p.Ala2055=)
c.6169G= (p.Ala2057=)
c.4294G= (p.Ala1432=)
6g.129427785G>TCA3994026LAMA2c.5899G>T (p.Ala1967Ser)
c.6163G>T (p.Ala2055Ser)
c.6169G>T (p.Ala2057Ser)
c.4294G>T (p.Ala1432Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129427786C>ACA365623934LAMA2c.5900C>A (p.Ala1967Asp)
c.6164C>A (p.Ala2055Asp)
c.6170C>A (p.Ala2057Asp)
c.4295C>A (p.Ala1432Asp)
 gnomAD v4
6g.129427786C>GCA365623935LAMA2c.5900C>G (p.Ala1967Gly)
c.6164C>G (p.Ala2055Gly)
c.6170C>G (p.Ala2057Gly)
c.4295C>G (p.Ala1432Gly)
6g.129427786C>TCA365623936LAMA2c.5900C>T (p.Ala1967Val)
c.6164C>T (p.Ala2055Val)
c.6170C>T (p.Ala2057Val)
c.4295C>T (p.Ala1432Val)
 gnomAD v4
6g.129427787delCA2680309246LAMA2c.5901del (p.Gly1969AlafsTer16)
c.6165del (p.Gly2057AlafsTer16)
c.6171del (p.Gly2059AlafsTer16)
c.4296del (p.Gly1434AlafsTer16)
 gnomAD v4
6g.129427787C>ACA451930627LAMA2c.5901C>A (p.Ala1967=)
c.6165C>A (p.Ala2055=)
c.6171C>A (p.Ala2057=)
c.4296C>A (p.Ala1432=)
6g.129427787C=CA1663161597LAMA2c.5901C= (p.Ala1967=)
c.6165C= (p.Ala2055=)
c.6171C= (p.Ala2057=)
c.4296C= (p.Ala1432=)
6g.129427787C>GCA451930626LAMA2c.5901C>G (p.Ala1967=)
c.6165C>G (p.Ala2055=)
c.6171C>G (p.Ala2057=)
c.4296C>G (p.Ala1432=)
 ClinVar dbSNP
6g.129427787C>TCA451930625LAMA2c.5901C>T (p.Ala1967=)
c.6165C>T (p.Ala2055=)
c.6171C>T (p.Ala2057=)
c.4296C>T (p.Ala1432=)
 gnomAD v4
6g.129427788A>CCA365623939LAMA2c.5902A>C (p.Lys1968Gln)
c.6166A>C (p.Lys2056Gln)
c.6172A>C (p.Lys2058Gln)
c.4297A>C (p.Lys1433Gln)
6g.129427788A>GCA365623937LAMA2c.5902A>G (p.Lys1968Glu)
c.6166A>G (p.Lys2056Glu)
c.6172A>G (p.Lys2058Glu)
c.4297A>G (p.Lys1433Glu)
6g.129427788A>TCA365623938LAMA2c.5902A>T (p.Lys1968Ter)
c.6166A>T (p.Lys2056Ter)
c.6172A>T (p.Lys2058Ter)
c.4297A>T (p.Lys1433Ter)
6g.129427789A=CA1663161604LAMA2c.5903A= (p.Lys1968=)
c.6167A= (p.Lys2056=)
c.6173A= (p.Lys2058=)
c.4298A= (p.Lys1433=)
6g.129427789A>CCA365623940LAMA2c.5903A>C (p.Lys1968Thr)
c.6167A>C (p.Lys2056Thr)
c.6173A>C (p.Lys2058Thr)
c.4298A>C (p.Lys1433Thr)
6g.129427789A>GCA3994027LAMA2c.5903A>G (p.Lys1968Arg)
c.6167A>G (p.Lys2056Arg)
c.6173A>G (p.Lys2058Arg)
c.4298A>G (p.Lys1433Arg)
 dbSNP ExAC
6g.129427789A>TCA365623941LAMA2c.5903A>T (p.Lys1968Ile)
c.6167A>T (p.Lys2056Ile)
c.6173A>T (p.Lys2058Ile)
c.4298A>T (p.Lys1433Ile)
6g.129427790A>CCA365623942LAMA2c.5904A>C (p.Lys1968Asn)
c.6168A>C (p.Lys2056Asn)
c.6174A>C (p.Lys2058Asn)
c.4299A>C (p.Lys1433Asn)
6g.129427790A>GCA451930657LAMA2c.5904A>G (p.Lys1968=)
c.6168A>G (p.Lys2056=)
c.6174A>G (p.Lys2058=)
c.4299A>G (p.Lys1433=)
6g.129427790A>TCA365623943LAMA2c.5904A>T (p.Lys1968Asn)
c.6168A>T (p.Lys2056Asn)
c.6174A>T (p.Lys2058Asn)
c.4299A>T (p.Lys1433Asn)
6g.129427791G>ACA365623944LAMA2c.5905G>A (p.Gly1969Ser)
c.6169G>A (p.Gly2057Ser)
c.6175G>A (p.Gly2059Ser)
c.4300G>A (p.Gly1434Ser)
6g.129427791G>CCA365623946LAMA2c.5905G>C (p.Gly1969Arg)
c.6169G>C (p.Gly2057Arg)
c.6175G>C (p.Gly2059Arg)
c.4300G>C (p.Gly1434Arg)
6g.129427791G>TCA365623945LAMA2c.5905G>T (p.Gly1969Cys)
c.6169G>T (p.Gly2057Cys)
c.6175G>T (p.Gly2059Cys)
c.4300G>T (p.Gly1434Cys)
6g.129427792G>ACA365623947LAMA2c.5906G>A (p.Gly1969Asp)
c.6170G>A (p.Gly2057Asp)
c.6176G>A (p.Gly2059Asp)
c.4301G>A (p.Gly1434Asp)
 ClinVar gnomAD v4
6g.129427792G>CCA365623949LAMA2c.5906G>C (p.Gly1969Ala)
c.6170G>C (p.Gly2057Ala)
c.6176G>C (p.Gly2059Ala)
c.4301G>C (p.Gly1434Ala)
 gnomAD v4
6g.129427792G>TCA365623948LAMA2c.5906G>T (p.Gly1969Val)
c.6170G>T (p.Gly2057Val)
c.6176G>T (p.Gly2059Val)
c.4301G>T (p.Gly1434Val)
 gnomAD v4
6g.129427793C>ACA451930671LAMA2c.5907C>A (p.Gly1969=)
c.6171C>A (p.Gly2057=)
c.6177C>A (p.Gly2059=)
c.4302C>A (p.Gly1434=)
6g.129427793C>GCA451930674LAMA2c.5907C>G (p.Gly1969=)
c.6171C>G (p.Gly2057=)
c.6177C>G (p.Gly2059=)
c.4302C>G (p.Gly1434=)
6g.129427793C>TCA451930677LAMA2c.5907C>T (p.Gly1969=)
c.6171C>T (p.Gly2057=)
c.6177C>T (p.Gly2059=)
c.4302C>T (p.Gly1434=)
6g.129427794T>ACA365623950LAMA2c.5908T>A (p.Cys1970Ser)
c.6172T>A (p.Cys2058Ser)
c.6178T>A (p.Cys2060Ser)
c.4303T>A (p.Cys1435Ser)
6g.129427794T>CCA365623951LAMA2c.5908T>C (p.Cys1970Arg)
c.6172T>C (p.Cys2058Arg)
c.6178T>C (p.Cys2060Arg)
c.4303T>C (p.Cys1435Arg)
6g.129427794T>GCA365623952LAMA2c.5908T>G (p.Cys1970Gly)
c.6172T>G (p.Cys2058Gly)
c.6178T>G (p.Cys2060Gly)
c.4303T>G (p.Cys1435Gly)
 gnomAD v4
6g.129427795G>ACA365623953LAMA2c.5909G>A (p.Cys1970Tyr)
c.6173G>A (p.Cys2058Tyr)
c.6179G>A (p.Cys2060Tyr)
c.4304G>A (p.Cys1435Tyr)
6g.129427795G>CCA3994028LAMA2c.5909G>C (p.Cys1970Ser)
c.6173G>C (p.Cys2058Ser)
c.6179G>C (p.Cys2060Ser)
c.4304G>C (p.Cys1435Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129427795G=CA1663161606LAMA2c.5909G= (p.Cys1970=)
c.6173G= (p.Cys2058=)
c.6179G= (p.Cys2060=)
c.4304G= (p.Cys1435=)
6g.129427795G>TCA365623954LAMA2c.5909G>T (p.Cys1970Phe)
c.6173G>T (p.Cys2058Phe)
c.6179G>T (p.Cys2060Phe)
c.4304G>T (p.Cys1435Phe)
 COSMIC
6g.129427796T>ACA365623955LAMA2c.5910T>A (p.Cys1970Ter)
c.6174T>A (p.Cys2058Ter)
c.6180T>A (p.Cys2060Ter)
c.4305T>A (p.Cys1435Ter)
 ClinVar dbSNP
6g.129427796T>CCA451930683LAMA2c.5910T>C (p.Cys1970=)
c.6174T>C (p.Cys2058=)
c.6180T>C (p.Cys2060=)
c.4305T>C (p.Cys1435=)
6g.129427796T>GCA365623956LAMA2c.5910T>G (p.Cys1970Trp)
c.6174T>G (p.Cys2058Trp)
c.6180T>G (p.Cys2060Trp)
c.4305T>G (p.Cys1435Trp)
6g.129427796T=CA1663161619LAMA2c.5910T= (p.Cys1970=)
c.6174T= (p.Cys2058=)
c.6180T= (p.Cys2060=)
c.4305T= (p.Cys1435=)
6g.129427797C>ACA365623957LAMA2c.5911C>A (p.Leu1971Ile)
c.6175C>A (p.Leu2059Ile)
c.6181C>A (p.Leu2061Ile)
c.4306C>A (p.Leu1436Ile)
6g.129427797C>GCA365623958LAMA2c.5911C>G (p.Leu1971Val)
c.6175C>G (p.Leu2059Val)
c.6181C>G (p.Leu2061Val)
c.4306C>G (p.Leu1436Val)
6g.129427797C>TCA365623959LAMA2c.5911C>T (p.Leu1971Phe)
c.6175C>T (p.Leu2059Phe)
c.6181C>T (p.Leu2061Phe)
c.4306C>T (p.Leu1436Phe)
6g.129427798T>ACA365623962LAMA2c.5912T>A (p.Leu1971His)
c.6176T>A (p.Leu2059His)
c.6182T>A (p.Leu2061His)
c.4307T>A (p.Leu1436His)
6g.129427798T>CCA365623960LAMA2c.5912T>C (p.Leu1971Pro)
c.6176T>C (p.Leu2059Pro)
c.6182T>C (p.Leu2061Pro)
c.4307T>C (p.Leu1436Pro)
6g.129427798T>GCA365623961LAMA2c.5912T>G (p.Leu1971Arg)
c.6176T>G (p.Leu2059Arg)
c.6182T>G (p.Leu2061Arg)
c.4307T>G (p.Leu1436Arg)
6g.129427799T>ACA451930713LAMA2c.5913T>A (p.Leu1971=)
c.6177T>A (p.Leu2059=)
c.6183T>A (p.Leu2061=)
c.4308T>A (p.Leu1436=)
6g.129427799T>CCA451930723LAMA2c.5913T>C (p.Leu1971=)
c.6177T>C (p.Leu2059=)
c.6183T>C (p.Leu2061=)
c.4308T>C (p.Leu1436=)
6g.129427799T>GCA451930724LAMA2c.5913T>G (p.Leu1971=)
c.6177T>G (p.Leu2059=)
c.6183T>G (p.Leu2061=)
c.4308T>G (p.Leu1436=)
6g.129427799_129427800delCA2580075045LAMA2c.5913_5914del (p.Gln1972GlufsTer7)
c.6177_6178del (p.Gln2060GlufsTer7)
c.6183_6184del (p.Gln2062GlufsTer7)
c.4308_4309del (p.Gln1437GlufsTer7)
 ClinVar
6g.129427800C>ACA365623963LAMA2c.5914C>A (p.Gln1972Lys)
c.6178C>A (p.Gln2060Lys)
c.6184C>A (p.Gln2062Lys)
c.4309C>A (p.Gln1437Lys)
6g.129427800C=CA1663161627LAMA2c.5914C= (p.Gln1972=)
c.6178C= (p.Gln2060=)
c.6184C= (p.Gln2062=)
c.4309C= (p.Gln1437=)
6g.129427800C>GCA365623964LAMA2c.5914C>G (p.Gln1972Glu)
c.6178C>G (p.Gln2060Glu)
c.6184C>G (p.Gln2062Glu)
c.4309C>G (p.Gln1437Glu)
6g.129427800C>TCA220776LAMA2c.5914C>T (p.Gln1972Ter)
c.6178C>T (p.Gln2060Ter)
c.6184C>T (p.Gln2062Ter)
c.4309C>T (p.Gln1437Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.129427801A=CA1663161636LAMA2c.5915A= (p.Gln1972=)
c.6179A= (p.Gln2060=)
c.6185A= (p.Gln2062=)
c.4310A= (p.Gln1437=)
6g.129427801A>CCA365623965LAMA2c.5915A>C (p.Gln1972Pro)
c.6179A>C (p.Gln2060Pro)
c.6185A>C (p.Gln2062Pro)
c.4310A>C (p.Gln1437Pro)
6g.129427801A>GCA365623966LAMA2c.5915A>G (p.Gln1972Arg)
c.6179A>G (p.Gln2060Arg)
c.6185A>G (p.Gln2062Arg)
c.4310A>G (p.Gln1437Arg)
 dbSNP
6g.129427801A>TCA365623967LAMA2c.5915A>T (p.Gln1972Leu)
c.6179A>T (p.Gln2060Leu)
c.6185A>T (p.Gln2062Leu)
c.4310A>T (p.Gln1437Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129427802G>ACA451930729LAMA2c.5916G>A (p.Gln1972=)
c.6180G>A (p.Gln2060=)
c.6186G>A (p.Gln2062=)
c.4311G>A (p.Gln1437=)
6g.129427802G>CCA365623968LAMA2c.5916G>C (p.Gln1972His)
c.6180G>C (p.Gln2060His)
c.6186G>C (p.Gln2062His)
c.4311G>C (p.Gln1437His)
6g.129427802G>TCA365623969LAMA2c.5916G>T (p.Gln1972His)
c.6180G>T (p.Gln2060His)
c.6186G>T (p.Gln2062His)
c.4311G>T (p.Gln1437His)
6g.129427803A>CCA365623970LAMA2c.5917A>C (p.Lys1973Gln)
c.6181A>C (p.Lys2061Gln)
c.6187A>C (p.Lys2063Gln)
c.4312A>C (p.Lys1438Gln)
6g.129427803A>GCA365623971LAMA2c.5917A>G (p.Lys1973Glu)
c.6181A>G (p.Lys2061Glu)
c.6187A>G (p.Lys2063Glu)
c.4312A>G (p.Lys1438Glu)
6g.129427803A>TCA365623972LAMA2c.5917A>T (p.Lys1973Ter)
c.6181A>T (p.Lys2061Ter)
c.6187A>T (p.Lys2063Ter)
c.4312A>T (p.Lys1438Ter)
6g.129427804A>CCA365623974LAMA2c.5918A>C (p.Lys1973Thr)
c.6182A>C (p.Lys2061Thr)
c.6188A>C (p.Lys2063Thr)
c.4313A>C (p.Lys1438Thr)
6g.129427804A>GCA365623975LAMA2c.5918A>G (p.Lys1973Arg)
c.6182A>G (p.Lys2061Arg)
c.6188A>G (p.Lys2063Arg)
c.4313A>G (p.Lys1438Arg)
6g.129427804A>TCA365623973LAMA2c.5918A>T (p.Lys1973Ile)
c.6182A>T (p.Lys2061Ile)
c.6188A>T (p.Lys2063Ile)
c.4313A>T (p.Lys1438Ile)
6g.129427805A>CCA365623976LAMA2c.5919A>C (p.Lys1973Asn)
c.6183A>C (p.Lys2061Asn)
c.6189A>C (p.Lys2063Asn)
c.4314A>C (p.Lys1438Asn)
6g.129427805A>GCA451930744LAMA2c.5919A>G (p.Lys1973=)
c.6183A>G (p.Lys2061=)
c.6189A>G (p.Lys2063=)
c.4314A>G (p.Lys1438=)
 gnomAD v4
6g.129427805A>TCA365623977LAMA2c.5919A>T (p.Lys1973Asn)
c.6183A>T (p.Lys2061Asn)
c.6189A>T (p.Lys2063Asn)
c.4314A>T (p.Lys1438Asn)
6g.129427806A>CCA365623978LAMA2c.5920A>C (p.Ser1974Arg)
c.6184A>C (p.Ser2062Arg)
c.6190A>C (p.Ser2064Arg)
c.4315A>C (p.Ser1439Arg)
6g.129427806A>GCA365623979LAMA2c.5920A>G (p.Ser1974Gly)
c.6184A>G (p.Ser2062Gly)
c.6190A>G (p.Ser2064Gly)
c.4315A>G (p.Ser1439Gly)
6g.129427806A>TCA365623980LAMA2c.5920A>T (p.Ser1974Cys)
c.6184A>T (p.Ser2062Cys)
c.6190A>T (p.Ser2064Cys)
c.4315A>T (p.Ser1439Cys)
 gnomAD v4
6g.129427807G>ACA365623981LAMA2c.5921G>A (p.Ser1974Asn)
c.6185G>A (p.Ser2062Asn)
c.6191G>A (p.Ser2064Asn)
c.4316G>A (p.Ser1439Asn)
6g.129427807G>CCA3994029LAMA2c.5921G>C (p.Ser1974Thr)
c.6185G>C (p.Ser2062Thr)
c.6191G>C (p.Ser2064Thr)
c.4316G>C (p.Ser1439Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129427807G=CA1663161648LAMA2c.5921G= (p.Ser1974=)
c.6185G= (p.Ser2062=)
c.6191G= (p.Ser2064=)
c.4316G= (p.Ser1439=)
6g.129427807G>TCA365623982LAMA2c.5921G>T (p.Ser1974Ile)
c.6185G>T (p.Ser2062Ile)
c.6191G>T (p.Ser2064Ile)
c.4316G>T (p.Ser1439Ile)
 gnomAD v4
6g.129427808C>ACA365623983LAMA2c.5922C>A (p.Ser1974Arg)
c.6186C>A (p.Ser2062Arg)
c.6192C>A (p.Ser2064Arg)
c.4317C>A (p.Ser1439Arg)
 COSMIC
6g.129427808C>GCA365623984LAMA2c.5922C>G (p.Ser1974Arg)
c.6186C>G (p.Ser2062Arg)
c.6192C>G (p.Ser2064Arg)
c.4317C>G (p.Ser1439Arg)
6g.129427808C>TCA451930763LAMA2c.5922C>T (p.Ser1974=)
c.6186C>T (p.Ser2062=)
c.6192C>T (p.Ser2064=)
c.4317C>T (p.Ser1439=)
6g.129427809T>ACA365623985LAMA2c.5923T>A (p.Phe1975Ile)
c.6187T>A (p.Phe2063Ile)
c.6193T>A (p.Phe2065Ile)
c.4318T>A (p.Phe1440Ile)
6g.129427809T>CCA365623986LAMA2c.5923T>C (p.Phe1975Leu)
c.6187T>C (p.Phe2063Leu)
c.6193T>C (p.Phe2065Leu)
c.4318T>C (p.Phe1440Leu)
6g.129427809T>GCA3994030LAMA2c.5923T>G (p.Phe1975Val)
c.6187T>G (p.Phe2063Val)
c.6193T>G (p.Phe2065Val)
c.4318T>G (p.Phe1440Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129427809T=CA1663161652LAMA2c.5923T= (p.Phe1975=)
c.6187T= (p.Phe2063=)
c.6193T= (p.Phe2065=)
c.4318T= (p.Phe1440=)
6g.129427810T>ACA365623989LAMA2c.5924T>A (p.Phe1975Tyr)
c.6188T>A (p.Phe2063Tyr)
c.6194T>A (p.Phe2065Tyr)
c.4319T>A (p.Phe1440Tyr)
6g.129427810T>CCA365623988LAMA2c.5924T>C (p.Phe1975Ser)
c.6188T>C (p.Phe2063Ser)
c.6194T>C (p.Phe2065Ser)
c.4319T>C (p.Phe1440Ser)
6g.129427810T>GCA365623987LAMA2c.5924T>G (p.Phe1975Cys)
c.6188T>G (p.Phe2063Cys)
c.6194T>G (p.Phe2065Cys)
c.4319T>G (p.Phe1440Cys)

Number of alleles fetched