Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.129315539_129315562delinsACCAAGGGCATTGTTTTTCAACATCA1663079785LAMA2c.3619_3642delinsACCAAGGGCATTGTTTTTCAACAT (p.Thr1207=)
c.3883_3906delinsACCAAGGGCATTGTTTTTCAACAT (p.Thr1295=)
c.3889_3912delinsACCAAGGGCATTGTTTTTCAACAT (p.Thr1297=)
c.2014_2037delinsACCAAGGGCATTGTTTTTCAACAT (p.Thr672=)
6g.129315543_129315565delCA234201LAMA2c.3623_3645del (p.Lys1208ArgfsTer27)
c.3887_3909del (p.Lys1296ArgfsTer27)
c.3893_3915del (p.Lys1298ArgfsTer27)
c.2018_2040del (p.Lys673ArgfsTer27)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315548_129315549delinsATCA1663079817LAMA2c.3628_3629delinsAT (p.Ile1210=)
c.3892_3893delinsAT (p.Ile1298=)
c.3898_3899delinsAT (p.Ile1300=)
c.2023_2024delinsAT (p.Ile675=)
6g.129315549T>ACA365612816LAMA2c.3629T>A (p.Ile1210Asn)
c.3893T>A (p.Ile1298Asn)
c.3899T>A (p.Ile1300Asn)
c.2024T>A (p.Ile675Asn)
 dbSNP
6g.129315549T>CCA365612818LAMA2c.3629T>C (p.Ile1210Thr)
c.3893T>C (p.Ile1298Thr)
c.3899T>C (p.Ile1300Thr)
c.2024T>C (p.Ile675Thr)
6g.129315549T>GCA365612820LAMA2c.3629T>G (p.Ile1210Ser)
c.3893T>G (p.Ile1298Ser)
c.3899T>G (p.Ile1300Ser)
c.2024T>G (p.Ile675Ser)
6g.129315550delCA220761LAMA2c.3630del (p.Ile1210MetfsTer14)
c.3894del (p.Ile1298MetfsTer14)
c.3900del (p.Ile1300MetfsTer14)
c.2025del (p.Ile675MetfsTer14)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315550T>ACA451936734LAMA2c.3630T>A (p.Ile1210=)
c.3894T>A (p.Ile1298=)
c.3900T>A (p.Ile1300=)
c.2025T>A (p.Ile675=)
6g.129315550T>CCA451936735LAMA2c.3630T>C (p.Ile1210=)
c.3894T>C (p.Ile1298=)
c.3900T>C (p.Ile1300=)
c.2025T>C (p.Ile675=)
6g.129315550T>GCA365612821LAMA2c.3630T>G (p.Ile1210Met)
c.3894T>G (p.Ile1298Met)
c.3900T>G (p.Ile1300Met)
c.2025T>G (p.Ile675Met)
6g.129315551G>ACA365612823LAMA2c.3631G>A (p.Val1211Ile)
c.3895G>A (p.Val1299Ile)
c.3901G>A (p.Val1301Ile)
c.2026G>A (p.Val676Ile)
 gnomAD v4
6g.129315551G>CCA365612825LAMA2c.3631G>C (p.Val1211Leu)
c.3895G>C (p.Val1299Leu)
c.3901G>C (p.Val1301Leu)
c.2026G>C (p.Val676Leu)
6g.129315551G>TCA365612826LAMA2c.3631G>T (p.Val1211Phe)
c.3895G>T (p.Val1299Phe)
c.3901G>T (p.Val1301Phe)
c.2026G>T (p.Val676Phe)
6g.129315551_129315552delinsGTCA1663079836LAMA2c.3631_3632delinsGT (p.Val1211=)
c.3895_3896delinsGT (p.Val1299=)
c.3901_3902delinsGT (p.Val1301=)
c.2026_2027delinsGT (p.Val676=)
6g.129315552T>ACA365612828LAMA2c.3632T>A (p.Val1211Asp)
c.3896T>A (p.Val1299Asp)
c.3902T>A (p.Val1301Asp)
c.2027T>A (p.Val676Asp)
6g.129315552T>CCA365612829LAMA2c.3632T>C (p.Val1211Ala)
c.3896T>C (p.Val1299Ala)
c.3902T>C (p.Val1301Ala)
c.2027T>C (p.Val676Ala)
 COSMIC
6g.129315552T>GCA365612831LAMA2c.3632T>G (p.Val1211Gly)
c.3896T>G (p.Val1299Gly)
c.3902T>G (p.Val1301Gly)
c.2027T>G (p.Val676Gly)
 gnomAD v4
6g.129315556dupCA2680313963LAMA2c.3636dup (p.Gln1213SerfsTer30)
c.3900dup (p.Gln1301SerfsTer30)
c.3906dup (p.Gln1303SerfsTer30)
c.2031dup (p.Gln678SerfsTer30)
 gnomAD v4
6g.129315556delCA16618241LAMA2c.3636del (p.Gln1213AsnfsTer11)
c.3900del (p.Gln1301AsnfsTer11)
c.3906del (p.Gln1303AsnfsTer11)
c.2031del (p.Gln678AsnfsTer11)
 ClinVar dbSNP
6g.129315553T>ACA451936736LAMA2c.3633T>A (p.Val1211=)
c.3897T>A (p.Val1299=)
c.3903T>A (p.Val1301=)
c.2028T>A (p.Val676=)
6g.129315553T>CCA451936738LAMA2c.3633T>C (p.Val1211=)
c.3897T>C (p.Val1299=)
c.3903T>C (p.Val1301=)
c.2028T>C (p.Val676=)
6g.129315553T>GCA451936737LAMA2c.3633T>G (p.Val1211=)
c.3897T>G (p.Val1299=)
c.3903T>G (p.Val1301=)
c.2028T>G (p.Val676=)
6g.129315554T>ACA365612833LAMA2c.3634T>A (p.Phe1212Ile)
c.3898T>A (p.Phe1300Ile)
c.3904T>A (p.Phe1302Ile)
c.2029T>A (p.Phe677Ile)
6g.129315554T>CCA365612834LAMA2c.3634T>C (p.Phe1212Leu)
c.3898T>C (p.Phe1300Leu)
c.3904T>C (p.Phe1302Leu)
c.2029T>C (p.Phe677Leu)
6g.129315554T>GCA365612835LAMA2c.3634T>G (p.Phe1212Val)
c.3898T>G (p.Phe1300Val)
c.3904T>G (p.Phe1302Val)
c.2029T>G (p.Phe677Val)
6g.129315555T>ACA365612840LAMA2c.3635T>A (p.Phe1212Tyr)
c.3899T>A (p.Phe1300Tyr)
c.3905T>A (p.Phe1302Tyr)
c.2030T>A (p.Phe677Tyr)
6g.129315555T>CCA365612837LAMA2c.3635T>C (p.Phe1212Ser)
c.3899T>C (p.Phe1300Ser)
c.3905T>C (p.Phe1302Ser)
c.2030T>C (p.Phe677Ser)
6g.129315555T>GCA365612839LAMA2c.3635T>G (p.Phe1212Cys)
c.3899T>G (p.Phe1300Cys)
c.3905T>G (p.Phe1302Cys)
c.2030T>G (p.Phe677Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.129315555T=CA1663079853LAMA2c.3635T= (p.Phe1212=)
c.3899T= (p.Phe1300=)
c.3905T= (p.Phe1302=)
c.2030T= (p.Phe677=)
6g.129315556T>ACA365612842LAMA2c.3636T>A (p.Phe1212Leu)
c.3900T>A (p.Phe1300Leu)
c.3906T>A (p.Phe1302Leu)
c.2031T>A (p.Phe677Leu)
 dbSNP gnomAD v2
6g.129315556T>CCA451936739LAMA2c.3636T>C (p.Phe1212=)
c.3900T>C (p.Phe1300=)
c.3906T>C (p.Phe1302=)
c.2031T>C (p.Phe677=)
6g.129315556T>GCA365612843LAMA2c.3636T>G (p.Phe1212Leu)
c.3900T>G (p.Phe1300Leu)
c.3906T>G (p.Phe1302Leu)
c.2031T>G (p.Phe677Leu)
6g.129315556T=CA1663079858LAMA2c.3636T= (p.Phe1212=)
c.3900T= (p.Phe1300=)
c.3906T= (p.Phe1302=)
c.2031T= (p.Phe677=)
6g.129315557C>ACA365612845LAMA2c.3637C>A (p.Gln1213Lys)
c.3901C>A (p.Gln1301Lys)
c.3907C>A (p.Gln1303Lys)
c.2032C>A (p.Gln678Lys)
 gnomAD v4
6g.129315557C>GCA365612847LAMA2c.3637C>G (p.Gln1213Glu)
c.3901C>G (p.Gln1301Glu)
c.3907C>G (p.Gln1303Glu)
c.2032C>G (p.Gln678Glu)
6g.129315557C>TCA365612848LAMA2c.3637C>T (p.Gln1213Ter)
c.3901C>T (p.Gln1301Ter)
c.3907C>T (p.Gln1303Ter)
c.2032C>T (p.Gln678Ter)
 gnomAD v4
6g.129315558A>CCA365612850LAMA2c.3638A>C (p.Gln1213Pro)
c.3902A>C (p.Gln1301Pro)
c.3908A>C (p.Gln1303Pro)
c.2033A>C (p.Gln678Pro)
6g.129315558A>GCA365612851LAMA2c.3638A>G (p.Gln1213Arg)
c.3902A>G (p.Gln1301Arg)
c.3908A>G (p.Gln1303Arg)
c.2033A>G (p.Gln678Arg)
6g.129315558A>TCA365612853LAMA2c.3638A>T (p.Gln1213Leu)
c.3902A>T (p.Gln1301Leu)
c.3908A>T (p.Gln1303Leu)
c.2033A>T (p.Gln678Leu)
6g.129315559A>CCA365612855LAMA2c.3639A>C (p.Gln1213His)
c.3903A>C (p.Gln1301His)
c.3909A>C (p.Gln1303His)
c.2034A>C (p.Gln678His)
6g.129315559A>GCA451936740LAMA2c.3639A>G (p.Gln1213=)
c.3903A>G (p.Gln1301=)
c.3909A>G (p.Gln1303=)
c.2034A>G (p.Gln678=)
 COSMIC
6g.129315559A>TCA365612856LAMA2c.3639A>T (p.Gln1213His)
c.3903A>T (p.Gln1301His)
c.3909A>T (p.Gln1303His)
c.2034A>T (p.Gln678His)
6g.129315560C>ACA365612861LAMA2c.3640C>A (p.His1214Asn)
c.3904C>A (p.His1302Asn)
c.3910C>A (p.His1304Asn)
c.2035C>A (p.His679Asn)
 gnomAD v4
6g.129315560C=CA1663079861LAMA2c.3640C= (p.His1214=)
c.3904C= (p.His1302=)
c.3910C= (p.His1304=)
c.2035C= (p.His679=)
6g.129315560C>GCA365612860LAMA2c.3640C>G (p.His1214Asp)
c.3904C>G (p.His1302Asp)
c.3910C>G (p.His1304Asp)
c.2035C>G (p.His679Asp)
6g.129315560C>TCA365612858LAMA2c.3640C>T (p.His1214Tyr)
c.3904C>T (p.His1302Tyr)
c.3910C>T (p.His1304Tyr)
c.2035C>T (p.His679Tyr)
 dbSNP gnomAD v2 gnomAD v4
6g.129315561A>CCA365612863LAMA2c.3641A>C (p.His1214Pro)
c.3905A>C (p.His1302Pro)
c.3911A>C (p.His1304Pro)
c.2036A>C (p.His679Pro)
6g.129315561A>GCA365612864LAMA2c.3641A>G (p.His1214Arg)
c.3905A>G (p.His1302Arg)
c.3911A>G (p.His1304Arg)
c.2036A>G (p.His679Arg)
 gnomAD v4
6g.129315561A>TCA365612865LAMA2c.3641A>T (p.His1214Leu)
c.3905A>T (p.His1302Leu)
c.3911A>T (p.His1304Leu)
c.2036A>T (p.His679Leu)
6g.129315562T>ACA365612867LAMA2c.3642T>A (p.His1214Gln)
c.3906T>A (p.His1302Gln)
c.3912T>A (p.His1304Gln)
c.2037T>A (p.His679Gln)
6g.129315562T>CCA451936741LAMA2c.3642T>C (p.His1214=)
c.3906T>C (p.His1302=)
c.3912T>C (p.His1304=)
c.2037T>C (p.His679=)
6g.129315562T>GCA365612869LAMA2c.3642T>G (p.His1214Gln)
c.3906T>G (p.His1302Gln)
c.3912T>G (p.His1304Gln)
c.2037T>G (p.His679Gln)
6g.129315563C>ACA365612870LAMA2c.3643C>A (p.Pro1215Thr)
c.3907C>A (p.Pro1303Thr)
c.3913C>A (p.Pro1305Thr)
c.2038C>A (p.Pro680Thr)
6g.129315563C>GCA365612872LAMA2c.3643C>G (p.Pro1215Ala)
c.3907C>G (p.Pro1303Ala)
c.3913C>G (p.Pro1305Ala)
c.2038C>G (p.Pro680Ala)
 gnomAD v4
6g.129315563C>TCA365612873LAMA2c.3643C>T (p.Pro1215Ser)
c.3907C>T (p.Pro1303Ser)
c.3913C>T (p.Pro1305Ser)
c.2038C>T (p.Pro680Ser)
6g.129315564C>ACA365612875LAMA2c.3644C>A (p.Pro1215Gln)
c.3908C>A (p.Pro1303Gln)
c.3914C>A (p.Pro1305Gln)
c.2039C>A (p.Pro680Gln)
6g.129315564C>GCA365612877LAMA2c.3644C>G (p.Pro1215Arg)
c.3908C>G (p.Pro1303Arg)
c.3914C>G (p.Pro1305Arg)
c.2039C>G (p.Pro680Arg)
6g.129315564C>TCA365612878LAMA2c.3644C>T (p.Pro1215Leu)
c.3908C>T (p.Pro1303Leu)
c.3914C>T (p.Pro1305Leu)
c.2039C>T (p.Pro680Leu)
6g.129315565A=CA1663079869LAMA2c.3645A= (p.Pro1215=)
c.3909A= (p.Pro1303=)
c.3915A= (p.Pro1305=)
c.2040A= (p.Pro680=)
6g.129315565A>CCA451936742LAMA2c.3645A>C (p.Pro1215=)
c.3909A>C (p.Pro1303=)
c.3915A>C (p.Pro1305=)
c.2040A>C (p.Pro680=)
6g.129315565A>GCA242502LAMA2c.3645A>G (p.Pro1215=)
c.3909A>G (p.Pro1303=)
c.3915A>G (p.Pro1305=)
c.2040A>G (p.Pro680=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129315565A>TCA451936743LAMA2c.3645A>T (p.Pro1215=)
c.3909A>T (p.Pro1303=)
c.3915A>T (p.Pro1305=)
c.2040A>T (p.Pro680=)
 dbSNP
6g.129315566G>ACA365612883LAMA2c.3646G>A (p.Glu1216Lys)
c.3910G>A (p.Glu1304Lys)
c.3916G>A (p.Glu1306Lys)
c.2041G>A (p.Glu681Lys)
6g.129315566G>CCA365612880LAMA2c.3646G>C (p.Glu1216Gln)
c.3910G>C (p.Glu1304Gln)
c.3916G>C (p.Glu1306Gln)
c.2041G>C (p.Glu681Gln)
6g.129315566G=CA1663079872LAMA2c.3646G= (p.Glu1216=)
c.3910G= (p.Glu1304=)
c.3916G= (p.Glu1306=)
c.2041G= (p.Glu681=)
6g.129315566G>TCA365612882LAMA2c.3646G>T (p.Glu1216Ter)
c.3910G>T (p.Glu1304Ter)
c.3916G>T (p.Glu1306Ter)
c.2041G>T (p.Glu681Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129315567A>CCA365612885LAMA2c.3647A>C (p.Glu1216Ala)
c.3911A>C (p.Glu1304Ala)
c.3917A>C (p.Glu1306Ala)
c.2042A>C (p.Glu681Ala)
6g.129315567A>GCA365612886LAMA2c.3647A>G (p.Glu1216Gly)
c.3911A>G (p.Glu1304Gly)
c.3917A>G (p.Glu1306Gly)
c.2042A>G (p.Glu681Gly)
6g.129315567A>TCA365612887LAMA2c.3647A>T (p.Glu1216Val)
c.3911A>T (p.Glu1304Val)
c.3917A>T (p.Glu1306Val)
c.2042A>T (p.Glu681Val)
6g.129315568G>ACA451936744LAMA2c.3648G>A (p.Glu1216=)
c.3912G>A (p.Glu1304=)
c.3918G>A (p.Glu1306=)
c.2043G>A (p.Glu681=)
6g.129315568G>CCA365612889LAMA2c.3648G>C (p.Glu1216Asp)
c.3912G>C (p.Glu1304Asp)
c.3918G>C (p.Glu1306Asp)
c.2043G>C (p.Glu681Asp)
6g.129315568G>TCA365612891LAMA2c.3648G>T (p.Glu1216Asp)
c.3912G>T (p.Glu1304Asp)
c.3918G>T (p.Glu1306Asp)
c.2043G>T (p.Glu681Asp)
6g.129315569A=CA1663079876LAMA2c.3649A= (p.Ile1217=)
c.3913A= (p.Ile1305=)
c.3919A= (p.Ile1307=)
c.2044A= (p.Ile682=)
6g.129315569A>CCA365612892LAMA2c.3649A>C (p.Ile1217Leu)
c.3913A>C (p.Ile1305Leu)
c.3919A>C (p.Ile1307Leu)
c.2044A>C (p.Ile682Leu)
6g.129315569A>GCA365612894LAMA2c.3649A>G (p.Ile1217Val)
c.3913A>G (p.Ile1305Val)
c.3919A>G (p.Ile1307Val)
c.2044A>G (p.Ile682Val)
 dbSNP gnomAD v3 gnomAD v4
6g.129315569A>TCA365612895LAMA2c.3649A>T (p.Ile1217Phe)
c.3913A>T (p.Ile1305Phe)
c.3919A>T (p.Ile1307Phe)
c.2044A>T (p.Ile682Phe)
6g.129315569_129315571delCA2680313964LAMA2c.3649_3651del (p.Ile1217del)
c.3913_3915del (p.Ile1305del)
c.3919_3921del (p.Ile1307del)
c.2044_2046del (p.Ile682del)
 gnomAD v4
6g.129315570T>ACA365612896LAMA2c.3650T>A (p.Ile1217Asn)
c.3914T>A (p.Ile1305Asn)
c.3920T>A (p.Ile1307Asn)
c.2045T>A (p.Ile682Asn)
6g.129315570T>CCA3993322LAMA2c.3650T>C (p.Ile1217Thr)
c.3914T>C (p.Ile1305Thr)
c.3920T>C (p.Ile1307Thr)
c.2045T>C (p.Ile682Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129315570T>GCA365612897LAMA2c.3650T>G (p.Ile1217Ser)
c.3914T>G (p.Ile1305Ser)
c.3920T>G (p.Ile1307Ser)
c.2045T>G (p.Ile682Ser)
6g.129315570T=CA1663079882LAMA2c.3650T= (p.Ile1217=)
c.3914T= (p.Ile1305=)
c.3920T= (p.Ile1307=)
c.2045T= (p.Ile682=)
6g.129315571delCA2695206985LAMA2c.3651del (p.Ile1217MetfsTer7)
c.3915del (p.Ile1305MetfsTer7)
c.3921del (p.Ile1307MetfsTer7)
c.2046del (p.Ile682MetfsTer7)
6g.129315571T>ACA451936745LAMA2c.3651T>A (p.Ile1217=)
c.3915T>A (p.Ile1305=)
c.3921T>A (p.Ile1307=)
c.2046T>A (p.Ile682=)
 gnomAD v4
6g.129315571T>CCA451936746LAMA2c.3651T>C (p.Ile1217=)
c.3915T>C (p.Ile1305=)
c.3921T>C (p.Ile1307=)
c.2046T>C (p.Ile682=)
6g.129315571T>GCA365612899LAMA2c.3651T>G (p.Ile1217Met)
c.3915T>G (p.Ile1305Met)
c.3921T>G (p.Ile1307Met)
c.2046T>G (p.Ile682Met)
6g.129315572G>ACA365612902LAMA2c.3652G>A (p.Val1218Ile)
c.3916G>A (p.Val1306Ile)
c.3922G>A (p.Val1308Ile)
c.2047G>A (p.Val683Ile)
 dbSNP
6g.129315572G>CCA365612904LAMA2c.3652G>C (p.Val1218Leu)
c.3916G>C (p.Val1306Leu)
c.3922G>C (p.Val1308Leu)
c.2047G>C (p.Val683Leu)
6g.129315572G=CA1663079886LAMA2c.3652G= (p.Val1218=)
c.3916G= (p.Val1306=)
c.3922G= (p.Val1308=)
c.2047G= (p.Val683=)
6g.129315572G>TCA365612901LAMA2c.3652G>T (p.Val1218Phe)
c.3916G>T (p.Val1306Phe)
c.3922G>T (p.Val1308Phe)
c.2047G>T (p.Val683Phe)
6g.129315573T>ACA365612906LAMA2c.3653T>A (p.Val1218Asp)
c.3917T>A (p.Val1306Asp)
c.3923T>A (p.Val1308Asp)
c.2048T>A (p.Val683Asp)
6g.129315573T>CCA365612905LAMA2c.3653T>C (p.Val1218Ala)
c.3917T>C (p.Val1306Ala)
c.3923T>C (p.Val1308Ala)
c.2048T>C (p.Val683Ala)
 gnomAD v4
6g.129315573T>GCA365612908LAMA2c.3653T>G (p.Val1218Gly)
c.3917T>G (p.Val1306Gly)
c.3923T>G (p.Val1308Gly)
c.2048T>G (p.Val683Gly)
6g.129315574T>ACA146914034LAMA2c.3654T>A (p.Val1218=)
c.3918T>A (p.Val1306=)
c.3924T>A (p.Val1308=)
c.2049T>A (p.Val683=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.129315574T>CCA451936748LAMA2c.3654T>C (p.Val1218=)
c.3918T>C (p.Val1306=)
c.3924T>C (p.Val1308=)
c.2049T>C (p.Val683=)
6g.129315574T>GCA451936747LAMA2c.3654T>G (p.Val1218=)
c.3918T>G (p.Val1306=)
c.3924T>G (p.Val1308=)
c.2049T>G (p.Val683=)
6g.129315574T=CA1663079892LAMA2c.3654T= (p.Val1218=)
c.3918T= (p.Val1306=)
c.3924T= (p.Val1308=)
c.2049T= (p.Val683=)
6g.129315574_129315575delCA2680313965LAMA2c.3654_3655del (p.Ala1219ProfsTer23)
c.3918_3919del (p.Ala1307ProfsTer23)
c.3924_3925del (p.Ala1309ProfsTer23)
c.2049_2050del (p.Ala684ProfsTer23)
 gnomAD v4
6g.129315575G>ACA365612910LAMA2c.3655G>A (p.Ala1219Thr)
c.3919G>A (p.Ala1307Thr)
c.3925G>A (p.Ala1309Thr)
c.2050G>A (p.Ala684Thr)
6g.129315575G>CCA365612912LAMA2c.3655G>C (p.Ala1219Pro)
c.3919G>C (p.Ala1307Pro)
c.3925G>C (p.Ala1309Pro)
c.2050G>C (p.Ala684Pro)
6g.129315575G>TCA365612913LAMA2c.3655G>T (p.Ala1219Ser)
c.3919G>T (p.Ala1307Ser)
c.3925G>T (p.Ala1309Ser)
c.2050G>T (p.Ala684Ser)
6g.129315575_129315581delCA2578737112LAMA2c.3655_3661del (p.Ala1219TrpfsTer3)
c.3919_3925del (p.Ala1307TrpfsTer3)
c.3925_3931del (p.Ala1309TrpfsTer3)
c.2050_2056del (p.Ala684TrpfsTer3)
6g.129315576C>ACA365612915LAMA2c.3656C>A (p.Ala1219Asp)
c.3920C>A (p.Ala1307Asp)
c.3926C>A (p.Ala1309Asp)
c.2051C>A (p.Ala684Asp)
6g.129315576C>GCA365612916LAMA2c.3656C>G (p.Ala1219Gly)
c.3920C>G (p.Ala1307Gly)
c.3926C>G (p.Ala1309Gly)
c.2051C>G (p.Ala684Gly)
6g.129315576C>TCA365612918LAMA2c.3656C>T (p.Ala1219Val)
c.3920C>T (p.Ala1307Val)
c.3926C>T (p.Ala1309Val)
c.2051C>T (p.Ala684Val)
 COSMIC
6g.129315577C>ACA451936749LAMA2c.3657C>A (p.Ala1219=)
c.3921C>A (p.Ala1307=)
c.3927C>A (p.Ala1309=)
c.2052C>A (p.Ala684=)
6g.129315577C>GCA451936750LAMA2c.3657C>G (p.Ala1219=)
c.3921C>G (p.Ala1307=)
c.3927C>G (p.Ala1309=)
c.2052C>G (p.Ala684=)
6g.129315577C>TCA451936751LAMA2c.3657C>T (p.Ala1219=)
c.3921C>T (p.Ala1307=)
c.3927C>T (p.Ala1309=)
c.2052C>T (p.Ala684=)
 ClinVar
6g.129315578C>ACA365612919LAMA2c.3658C>A (p.His1220Asn)
c.3922C>A (p.His1308Asn)
c.3928C>A (p.His1310Asn)
c.2053C>A (p.His685Asn)
6g.129315578C>GCA365612921LAMA2c.3658C>G (p.His1220Asp)
c.3922C>G (p.His1308Asp)
c.3928C>G (p.His1310Asp)
c.2053C>G (p.His685Asp)
6g.129315578C>TCA365612922LAMA2c.3658C>T (p.His1220Tyr)
c.3922C>T (p.His1308Tyr)
c.3928C>T (p.His1310Tyr)
c.2053C>T (p.His685Tyr)
6g.129315579A>CCA365612924LAMA2c.3659A>C (p.His1220Pro)
c.3923A>C (p.His1308Pro)
c.3929A>C (p.His1310Pro)
c.2054A>C (p.His685Pro)
6g.129315579A>GCA365612926LAMA2c.3659A>G (p.His1220Arg)
c.3923A>G (p.His1308Arg)
c.3929A>G (p.His1310Arg)
c.2054A>G (p.His685Arg)
6g.129315579A>TCA365612927LAMA2c.3659A>T (p.His1220Leu)
c.3923A>T (p.His1308Leu)
c.3929A>T (p.His1310Leu)
c.2054A>T (p.His685Leu)
6g.129315580C>ACA365612930LAMA2c.3660C>A (p.His1220Gln)
c.3924C>A (p.His1308Gln)
c.3930C>A (p.His1310Gln)
c.2055C>A (p.His685Gln)
6g.129315580C=CA1663079897LAMA2c.3660C= (p.His1220=)
c.3924C= (p.His1308=)
c.3930C= (p.His1310=)
c.2055C= (p.His685=)
6g.129315580C>GCA365612929LAMA2c.3660C>G (p.His1220Gln)
c.3924C>G (p.His1308Gln)
c.3930C>G (p.His1310Gln)
c.2055C>G (p.His685Gln)
6g.129315580C>TCA146914040LAMA2c.3660C>T (p.His1220=)
c.3924C>T (p.His1308=)
c.3930C>T (p.His1310=)
c.2055C>T (p.His685=)
 dbSNP
6g.129315581A=CA1663079906LAMA2c.3661A= (p.Met1221=)
c.3925A= (p.Met1309=)
c.3931A= (p.Met1311=)
c.2056A= (p.Met686=)
6g.129315581A>CCA365612932LAMA2c.3661A>C (p.Met1221Leu)
c.3925A>C (p.Met1309Leu)
c.3931A>C (p.Met1311Leu)
c.2056A>C (p.Met686Leu)
6g.129315581A>GCA3993323LAMA2c.3661A>G (p.Met1221Val)
c.3925A>G (p.Met1309Val)
c.3931A>G (p.Met1311Val)
c.2056A>G (p.Met686Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.129315581A>TCA365612934LAMA2c.3661A>T (p.Met1221Leu)
c.3925A>T (p.Met1309Leu)
c.3931A>T (p.Met1311Leu)
c.2056A>T (p.Met686Leu)
6g.129315582T>ACA365612935LAMA2c.3662T>A (p.Met1221Lys)
c.3926T>A (p.Met1309Lys)
c.3932T>A (p.Met1311Lys)
c.2057T>A (p.Met686Lys)
6g.129315582T>CCA365612936LAMA2c.3662T>C (p.Met1221Thr)
c.3926T>C (p.Met1309Thr)
c.3932T>C (p.Met1311Thr)
c.2057T>C (p.Met686Thr)
6g.129315582T>GCA3993324LAMA2c.3662T>G (p.Met1221Arg)
c.3926T>G (p.Met1309Arg)
c.3932T>G (p.Met1311Arg)
c.2057T>G (p.Met686Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315582T=CA1663079918LAMA2c.3662T= (p.Met1221=)
c.3926T= (p.Met1309=)
c.3932T= (p.Met1311=)
c.2057T= (p.Met686=)
6g.129315583G>ACA365612938LAMA2c.3663G>A (p.Met1221Ile)
c.3927G>A (p.Met1309Ile)
c.3933G>A (p.Met1311Ile)
c.2058G>A (p.Met686Ile)
6g.129315583G>CCA365612939LAMA2c.3663G>C (p.Met1221Ile)
c.3927G>C (p.Met1309Ile)
c.3933G>C (p.Met1311Ile)
c.2058G>C (p.Met686Ile)
6g.129315583G>TCA365612941LAMA2c.3663G>T (p.Met1221Ile)
c.3927G>T (p.Met1309Ile)
c.3933G>T (p.Met1311Ile)
c.2058G>T (p.Met686Ile)
6g.129315584G>ACA365612942LAMA2c.3664G>A (p.Asp1222Asn)
c.3928G>A (p.Asp1310Asn)
c.3934G>A (p.Asp1312Asn)
c.2059G>A (p.Asp687Asn)
 COSMIC
6g.129315584G>CCA365612943LAMA2c.3664G>C (p.Asp1222His)
c.3928G>C (p.Asp1310His)
c.3934G>C (p.Asp1312His)
c.2059G>C (p.Asp687His)
6g.129315584G>TCA365612945LAMA2c.3664G>T (p.Asp1222Tyr)
c.3928G>T (p.Asp1310Tyr)
c.3934G>T (p.Asp1312Tyr)
c.2059G>T (p.Asp687Tyr)
6g.129315585A=CA1663079935LAMA2c.3665A= (p.Asp1222=)
c.3929A= (p.Asp1310=)
c.3935A= (p.Asp1312=)
c.2060A= (p.Asp687=)
6g.129315585A>CCA365612949LAMA2c.3665A>C (p.Asp1222Ala)
c.3929A>C (p.Asp1310Ala)
c.3935A>C (p.Asp1312Ala)
c.2060A>C (p.Asp687Ala)
6g.129315585A>GCA3993325LAMA2c.3665A>G (p.Asp1222Gly)
c.3929A>G (p.Asp1310Gly)
c.3935A>G (p.Asp1312Gly)
c.2060A>G (p.Asp687Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315585A>TCA365612947LAMA2c.3665A>T (p.Asp1222Val)
c.3929A>T (p.Asp1310Val)
c.3935A>T (p.Asp1312Val)
c.2060A>T (p.Asp687Val)
 dbSNP gnomAD v3 gnomAD v4
6g.129315585_129315586delinsACCA1663079930LAMA2c.3665_3666delinsAC (p.Asp1222=)
c.3929_3930delinsAC (p.Asp1310=)
c.3935_3936delinsAC (p.Asp1312=)
c.2060_2061delinsAC (p.Asp687=)
6g.129315586C>ACA3993326LAMA2c.3666C>A (p.Asp1222Glu)
c.3930C>A (p.Asp1310Glu)
c.3936C>A (p.Asp1312Glu)
c.2061C>A (p.Asp687Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315586C=CA1663079944LAMA2c.3666C= (p.Asp1222=)
c.3930C= (p.Asp1310=)
c.3936C= (p.Asp1312=)
c.2061C= (p.Asp687=)
6g.129315586C>GCA365612951LAMA2c.3666C>G (p.Asp1222Glu)
c.3930C>G (p.Asp1310Glu)
c.3936C>G (p.Asp1312Glu)
c.2061C>G (p.Asp687Glu)
6g.129315586C>TCA451936752LAMA2c.3666C>T (p.Asp1222=)
c.3930C>T (p.Asp1310=)
c.3936C>T (p.Asp1312=)
c.2061C>T (p.Asp687=)
6g.129315587delCA1139659803LAMA2c.3667del (p.Leu1223Ter)
c.3931del (p.Leu1311Ter)
c.3937del (p.Leu1313Ter)
c.2062del (p.Leu688Ter)
 ClinVar dbSNP
6g.129315586_129315587insTCA2499218070LAMA2c.3666_3667insT (p.Leu1223SerfsTer20)
c.3930_3931insT (p.Leu1311SerfsTer20)
c.3936_3937insT (p.Leu1313SerfsTer20)
c.2061_2062insT (p.Leu688SerfsTer20)
 dbSNP
6g.129315587C>ACA365612953LAMA2c.3667C>A (p.Leu1223Met)
c.3931C>A (p.Leu1311Met)
c.3937C>A (p.Leu1313Met)
c.2062C>A (p.Leu688Met)
6g.129315587C>GCA365612954LAMA2c.3667C>G (p.Leu1223Val)
c.3931C>G (p.Leu1311Val)
c.3937C>G (p.Leu1313Val)
c.2062C>G (p.Leu688Val)
6g.129315587C>TCA451936753LAMA2c.3667C>T (p.Leu1223=)
c.3931C>T (p.Leu1311=)
c.3937C>T (p.Leu1313=)
c.2062C>T (p.Leu688=)
6g.129315588T>ACA365612956LAMA2c.3668T>A (p.Leu1223Gln)
c.3932T>A (p.Leu1311Gln)
c.3938T>A (p.Leu1313Gln)
c.2063T>A (p.Leu688Gln)
6g.129315588T>CCA3993327LAMA2c.3668T>C (p.Leu1223Pro)
c.3932T>C (p.Leu1311Pro)
c.3938T>C (p.Leu1313Pro)
c.2063T>C (p.Leu688Pro)
 dbSNP ExAC gnomAD v4
6g.129315588T>GCA365612957LAMA2c.3668T>G (p.Leu1223Arg)
c.3932T>G (p.Leu1311Arg)
c.3938T>G (p.Leu1313Arg)
c.2063T>G (p.Leu688Arg)
6g.129315588T=CA1663079953LAMA2c.3668T= (p.Leu1223=)
c.3932T= (p.Leu1311=)
c.3938T= (p.Leu1313=)
c.2063T= (p.Leu688=)
6g.129315589G>ACA451936754LAMA2c.3669G>A (p.Leu1223=)
c.3933G>A (p.Leu1311=)
c.3939G>A (p.Leu1313=)
c.2064G>A (p.Leu688=)
6g.129315589G>CCA451936755LAMA2c.3669G>C (p.Leu1223=)
c.3933G>C (p.Leu1311=)
c.3939G>C (p.Leu1313=)
c.2064G>C (p.Leu688=)
6g.129315589G>TCA451936756LAMA2c.3669G>T (p.Leu1223=)
c.3933G>T (p.Leu1311=)
c.3939G>T (p.Leu1313=)
c.2064G>T (p.Leu688=)
6g.129315590A=CA1663079959LAMA2c.3670A= (p.Met1224=)
c.3934A= (p.Met1312=)
c.3940A= (p.Met1314=)
c.2065A= (p.Met689=)
6g.129315590A>CCA365612959LAMA2c.3670A>C (p.Met1224Leu)
c.3934A>C (p.Met1312Leu)
c.3940A>C (p.Met1314Leu)
c.2065A>C (p.Met689Leu)
6g.129315590A>GCA365612961LAMA2c.3670A>G (p.Met1224Val)
c.3934A>G (p.Met1312Val)
c.3940A>G (p.Met1314Val)
c.2065A>G (p.Met689Val)
6g.129315590A>TCA365612962LAMA2c.3670A>T (p.Met1224Leu)
c.3934A>T (p.Met1312Leu)
c.3940A>T (p.Met1314Leu)
c.2065A>T (p.Met689Leu)
 dbSNP
6g.129315591T>ACA365612964LAMA2c.3671T>A (p.Met1224Lys)
c.3935T>A (p.Met1312Lys)
c.3941T>A (p.Met1314Lys)
c.2066T>A (p.Met689Lys)
6g.129315591T>CCA365612965LAMA2c.3671T>C (p.Met1224Thr)
c.3935T>C (p.Met1312Thr)
c.3941T>C (p.Met1314Thr)
c.2066T>C (p.Met689Thr)
 gnomAD v4
6g.129315591T>GCA365612967LAMA2c.3671T>G (p.Met1224Arg)
c.3935T>G (p.Met1312Arg)
c.3941T>G (p.Met1314Arg)
c.2066T>G (p.Met689Arg)
 gnomAD v4
6g.129315592G>ACA365612972LAMA2c.3672G>A (p.Met1224Ile)
c.3936G>A (p.Met1312Ile)
c.3942G>A (p.Met1314Ile)
c.2067G>A (p.Met689Ile)
 COSMIC
6g.129315592G>CCA365612970LAMA2c.3672G>C (p.Met1224Ile)
c.3936G>C (p.Met1312Ile)
c.3942G>C (p.Met1314Ile)
c.2067G>C (p.Met689Ile)
6g.129315592G>TCA365612968LAMA2c.3672G>T (p.Met1224Ile)
c.3936G>T (p.Met1312Ile)
c.3942G>T (p.Met1314Ile)
c.2067G>T (p.Met689Ile)
 COSMIC
6g.129315593A>CCA451936757LAMA2c.3673A>C (p.Arg1225=)
c.3937A>C (p.Arg1313=)
c.3943A>C (p.Arg1315=)
c.2068A>C (p.Arg690=)
6g.129315593A>GCA365612973LAMA2c.3673A>G (p.Arg1225Gly)
c.3937A>G (p.Arg1313Gly)
c.3943A>G (p.Arg1315Gly)
c.2068A>G (p.Arg690Gly)
6g.129315593A>TCA365612974LAMA2c.3673A>T (p.Arg1225Ter)
c.3937A>T (p.Arg1313Ter)
c.3943A>T (p.Arg1315Ter)
c.2068A>T (p.Arg690Ter)
6g.129315594G>ACA365612975LAMA2c.3674G>A (p.Arg1225Lys)
c.3938G>A (p.Arg1313Lys)
c.3944G>A (p.Arg1315Lys)
c.2069G>A (p.Arg690Lys)
 dbSNP gnomAD v2 gnomAD v4
6g.129315594G>CCA3993328LAMA2c.3674G>C (p.Arg1225Thr)
c.3938G>C (p.Arg1313Thr)
c.3944G>C (p.Arg1315Thr)
c.2069G>C (p.Arg690Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315594G=CA1663079964LAMA2c.3674G= (p.Arg1225=)
c.3938G= (p.Arg1313=)
c.3944G= (p.Arg1315=)
c.2069G= (p.Arg690=)
6g.129315594G>TCA365612977LAMA2c.3674G>T (p.Arg1225Ile)
c.3938G>T (p.Arg1313Ile)
c.3944G>T (p.Arg1315Ile)
c.2069G>T (p.Arg690Ile)
6g.129315595A>CCA365612979LAMA2c.3675A>C (p.Arg1225Ser)
c.3939A>C (p.Arg1313Ser)
c.3945A>C (p.Arg1315Ser)
c.2070A>C (p.Arg690Ser)
6g.129315595A>GCA451936758LAMA2c.3675A>G (p.Arg1225=)
c.3939A>G (p.Arg1313=)
c.3945A>G (p.Arg1315=)
c.2070A>G (p.Arg690=)
 gnomAD v4
6g.129315595A>TCA365612980LAMA2c.3675A>T (p.Arg1225Ser)
c.3939A>T (p.Arg1313Ser)
c.3945A>T (p.Arg1315Ser)
c.2070A>T (p.Arg690Ser)
6g.129315596G>ACA365612982LAMA2c.3676G>A (p.Glu1226Lys)
c.3940G>A (p.Glu1314Lys)
c.3946G>A (p.Glu1316Lys)
c.2071G>A (p.Glu691Lys)
 dbSNP gnomAD v4 COSMIC
6g.129315596G>CCA365612983LAMA2c.3676G>C (p.Glu1226Gln)
c.3940G>C (p.Glu1314Gln)
c.3946G>C (p.Glu1316Gln)
c.2071G>C (p.Glu691Gln)
6g.129315596G=CA1663079966LAMA2c.3676G= (p.Glu1226=)
c.3940G= (p.Glu1314=)
c.3946G= (p.Glu1316=)
c.2071G= (p.Glu691=)
6g.129315596G>TCA365612985LAMA2c.3676G>T (p.Glu1226Ter)
c.3940G>T (p.Glu1314Ter)
c.3946G>T (p.Glu1316Ter)
c.2071G>T (p.Glu691Ter)
6g.129315597A=CA1663079973LAMA2c.3677A= (p.Glu1226=)
c.3941A= (p.Glu1314=)
c.3947A= (p.Glu1316=)
c.2072A= (p.Glu691=)
6g.129315597A>CCA365612986LAMA2c.3677A>C (p.Glu1226Ala)
c.3941A>C (p.Glu1314Ala)
c.3947A>C (p.Glu1316Ala)
c.2072A>C (p.Glu691Ala)
6g.129315597A>GCA365612987LAMA2c.3677A>G (p.Glu1226Gly)
c.3941A>G (p.Glu1314Gly)
c.3947A>G (p.Glu1316Gly)
c.2072A>G (p.Glu691Gly)
 dbSNP
6g.129315597A>TCA365612989LAMA2c.3677A>T (p.Glu1226Val)
c.3941A>T (p.Glu1314Val)
c.3947A>T (p.Glu1316Val)
c.2072A>T (p.Glu691Val)
6g.129315598A=CA1663079975LAMA2c.3678A= (p.Glu1226=)
c.3942A= (p.Glu1314=)
c.3948A= (p.Glu1316=)
c.2073A= (p.Glu691=)
6g.129315598A>CCA365612993LAMA2c.3678A>C (p.Glu1226Asp)
c.3942A>C (p.Glu1314Asp)
c.3948A>C (p.Glu1316Asp)
c.2073A>C (p.Glu691Asp)
6g.129315598A>GCA3993329LAMA2c.3678A>G (p.Glu1226=)
c.3942A>G (p.Glu1314=)
c.3948A>G (p.Glu1316=)
c.2073A>G (p.Glu691=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315598A>TCA365612991LAMA2c.3678A>T (p.Glu1226Asp)
c.3942A>T (p.Glu1314Asp)
c.3948A>T (p.Glu1316Asp)
c.2073A>T (p.Glu691Asp)
6g.129315599G>ACA365612994LAMA2c.3679G>A (p.Asp1227Asn)
c.3943G>A (p.Asp1315Asn)
c.3949G>A (p.Asp1317Asn)
c.2074G>A (p.Asp692Asn)
6g.129315599G>CCA365612997LAMA2c.3679G>C (p.Asp1227His)
c.3943G>C (p.Asp1315His)
c.3949G>C (p.Asp1317His)
c.2074G>C (p.Asp692His)
6g.129315599G>TCA365612995LAMA2c.3679G>T (p.Asp1227Tyr)
c.3943G>T (p.Asp1315Tyr)
c.3949G>T (p.Asp1317Tyr)
c.2074G>T (p.Asp692Tyr)
 COSMIC
6g.129315600A>CCA365612999LAMA2c.3680A>C (p.Asp1227Ala)
c.3944A>C (p.Asp1315Ala)
c.3950A>C (p.Asp1317Ala)
c.2075A>C (p.Asp692Ala)
6g.129315600A>GCA365613000LAMA2c.3680A>G (p.Asp1227Gly)
c.3944A>G (p.Asp1315Gly)
c.3950A>G (p.Asp1317Gly)
c.2075A>G (p.Asp692Gly)
6g.129315600A>TCA365613002LAMA2c.3680A>T (p.Asp1227Val)
c.3944A>T (p.Asp1315Val)
c.3950A>T (p.Asp1317Val)
c.2075A>T (p.Asp692Val)
 ClinVar gnomAD v4
6g.129315601T>ACA365613003LAMA2c.3681T>A (p.Asp1227Glu)
c.3945T>A (p.Asp1315Glu)
c.3951T>A (p.Asp1317Glu)
c.2076T>A (p.Asp692Glu)
 gnomAD v4
6g.129315601T>CCA451936759LAMA2c.3681T>C (p.Asp1227=)
c.3945T>C (p.Asp1315=)
c.3951T>C (p.Asp1317=)
c.2076T>C (p.Asp692=)
6g.129315601T>GCA365613004LAMA2c.3681T>G (p.Asp1227Glu)
c.3945T>G (p.Asp1315Glu)
c.3951T>G (p.Asp1317Glu)
c.2076T>G (p.Asp692Glu)
6g.129315602C>ACA365613006LAMA2c.3682C>A (p.Leu1228Ile)
c.3946C>A (p.Leu1316Ile)
c.3952C>A (p.Leu1318Ile)
c.2077C>A (p.Leu693Ile)
6g.129315602C>GCA365613008LAMA2c.3682C>G (p.Leu1228Val)
c.3946C>G (p.Leu1316Val)
c.3952C>G (p.Leu1318Val)
c.2077C>G (p.Leu693Val)
6g.129315602C>TCA365613009LAMA2c.3682C>T (p.Leu1228Phe)
c.3946C>T (p.Leu1316Phe)
c.3952C>T (p.Leu1318Phe)
c.2077C>T (p.Leu693Phe)
 dbSNP
6g.129315603T>ACA365613011LAMA2c.3683T>A (p.Leu1228His)
c.3947T>A (p.Leu1316His)
c.3953T>A (p.Leu1318His)
c.2078T>A (p.Leu693His)
6g.129315603T>CCA365613012LAMA2c.3683T>C (p.Leu1228Pro)
c.3947T>C (p.Leu1316Pro)
c.3953T>C (p.Leu1318Pro)
c.2078T>C (p.Leu693Pro)
6g.129315603T>GCA365613013LAMA2c.3683T>G (p.Leu1228Arg)
c.3947T>G (p.Leu1316Arg)
c.3953T>G (p.Leu1318Arg)
c.2078T>G (p.Leu693Arg)
6g.129315604C>ACA451936761LAMA2c.3684C>A (p.Leu1228=)
c.3948C>A (p.Leu1316=)
c.3954C>A (p.Leu1318=)
c.2079C>A (p.Leu693=)
6g.129315604C=CA1663079980LAMA2c.3684C= (p.Leu1228=)
c.3948C= (p.Leu1316=)
c.3954C= (p.Leu1318=)
c.2079C= (p.Leu693=)
6g.129315604C>GCA451936760LAMA2c.3684C>G (p.Leu1228=)
c.3948C>G (p.Leu1316=)
c.3954C>G (p.Leu1318=)
c.2079C>G (p.Leu693=)
6g.129315604C>TCA146914093LAMA2c.3684C>T (p.Leu1228=)
c.3948C>T (p.Leu1316=)
c.3954C>T (p.Leu1318=)
c.2079C>T (p.Leu693=)
 ClinVar dbSNP COSMIC
6g.129315605C>ACA365613018LAMA2c.3685C>A (p.His1229Asn)
c.3949C>A (p.His1317Asn)
c.3955C>A (p.His1319Asn)
c.2080C>A (p.His694Asn)
6g.129315605C=CA1663079987LAMA2c.3685C= (p.His1229=)
c.3949C= (p.His1317=)
c.3955C= (p.His1319=)
c.2080C= (p.His694=)
6g.129315605C>GCA365613016LAMA2c.3685C>G (p.His1229Asp)
c.3949C>G (p.His1317Asp)
c.3955C>G (p.His1319Asp)
c.2080C>G (p.His694Asp)
6g.129315605C>TCA146914097LAMA2c.3685C>T (p.His1229Tyr)
c.3949C>T (p.His1317Tyr)
c.3955C>T (p.His1319Tyr)
c.2080C>T (p.His694Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129315606A=CA1663079997LAMA2c.3686A= (p.His1229=)
c.3950A= (p.His1317=)
c.3956A= (p.His1319=)
c.2081A= (p.His694=)
6g.129315606A>CCA3993330LAMA2c.3686A>C (p.His1229Pro)
c.3950A>C (p.His1317Pro)
c.3956A>C (p.His1319Pro)
c.2081A>C (p.His694Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315606A>GCA365613019LAMA2c.3686A>G (p.His1229Arg)
c.3950A>G (p.His1317Arg)
c.3956A>G (p.His1319Arg)
c.2081A>G (p.His694Arg)
6g.129315606A>TCA365613021LAMA2c.3686A>T (p.His1229Leu)
c.3950A>T (p.His1317Leu)
c.3956A>T (p.His1319Leu)
c.2081A>T (p.His694Leu)
 COSMIC
6g.129315607T>ACA365613023LAMA2c.3687T>A (p.His1229Gln)
c.3951T>A (p.His1317Gln)
c.3957T>A (p.His1319Gln)
c.2082T>A (p.His694Gln)
6g.129315607T>CCA451936762LAMA2c.3687T>C (p.His1229=)
c.3951T>C (p.His1317=)
c.3957T>C (p.His1319=)
c.2082T>C (p.His694=)
6g.129315607T>GCA365613024LAMA2c.3687T>G (p.His1229Gln)
c.3951T>G (p.His1317Gln)
c.3957T>G (p.His1319Gln)
c.2082T>G (p.His694Gln)
6g.129315608T>ACA365613026LAMA2c.3688T>A (p.Leu1230Met)
c.3952T>A (p.Leu1318Met)
c.3958T>A (p.Leu1320Met)
c.2083T>A (p.Leu695Met)
6g.129315608T>CCA451936763LAMA2c.3688T>C (p.Leu1230=)
c.3952T>C (p.Leu1318=)
c.3958T>C (p.Leu1320=)
c.2083T>C (p.Leu695=)
6g.129315608T>GCA365613027LAMA2c.3688T>G (p.Leu1230Val)
c.3952T>G (p.Leu1318Val)
c.3958T>G (p.Leu1320Val)
c.2083T>G (p.Leu695Val)
6g.129315609T>ACA365613029LAMA2c.3689T>A (p.Leu1230Ter)
c.3953T>A (p.Leu1318Ter)
c.3959T>A (p.Leu1320Ter)
c.2084T>A (p.Leu695Ter)
6g.129315609T>CCA365613031LAMA2c.3689T>C (p.Leu1230Ser)
c.3953T>C (p.Leu1318Ser)
c.3959T>C (p.Leu1320Ser)
c.2084T>C (p.Leu695Ser)
6g.129315609T>GCA365613032LAMA2c.3689T>G (p.Leu1230Trp)
c.3953T>G (p.Leu1318Trp)
c.3959T>G (p.Leu1320Trp)
c.2084T>G (p.Leu695Trp)
 dbSNP gnomAD v2 gnomAD v4
6g.129315609T=CA1663080001LAMA2c.3689T= (p.Leu1230=)
c.3953T= (p.Leu1318=)
c.3959T= (p.Leu1320=)
c.2084T= (p.Leu695=)
6g.129315610G>ACA451936764LAMA2c.3690G>A (p.Leu1230=)
c.3954G>A (p.Leu1318=)
c.3960G>A (p.Leu1320=)
c.2085G>A (p.Leu695=)
 ClinVar dbSNP
6g.129315610G>CCA365613033LAMA2c.3690G>C (p.Leu1230Phe)
c.3954G>C (p.Leu1318Phe)
c.3960G>C (p.Leu1320Phe)
c.2085G>C (p.Leu695Phe)
6g.129315610G>TCA365613035LAMA2c.3690G>T (p.Leu1230Phe)
c.3954G>T (p.Leu1318Phe)
c.3960G>T (p.Leu1320Phe)
c.2085G>T (p.Leu695Phe)
6g.129315611G>ACA365613040LAMA2c.3691G>A (p.Glu1231Lys)
c.3955G>A (p.Glu1319Lys)
c.3961G>A (p.Glu1321Lys)
c.2086G>A (p.Glu696Lys)
 gnomAD v4
6g.129315611G>CCA365613038LAMA2c.3691G>C (p.Glu1231Gln)
c.3955G>C (p.Glu1319Gln)
c.3961G>C (p.Glu1321Gln)
c.2086G>C (p.Glu696Gln)
6g.129315611G>TCA365613036LAMA2c.3691G>T (p.Glu1231Ter)
c.3955G>T (p.Glu1319Ter)
c.3961G>T (p.Glu1321Ter)
c.2086G>T (p.Glu696Ter)
 gnomAD v4
6g.129315612A>CCA365613041LAMA2c.3692A>C (p.Glu1231Ala)
c.3956A>C (p.Glu1319Ala)
c.3962A>C (p.Glu1321Ala)
c.2087A>C (p.Glu696Ala)
6g.129315612A>GCA365613042LAMA2c.3692A>G (p.Glu1231Gly)
c.3956A>G (p.Glu1319Gly)
c.3962A>G (p.Glu1321Gly)
c.2087A>G (p.Glu696Gly)
6g.129315612A>TCA365613044LAMA2c.3692A>T (p.Glu1231Val)
c.3956A>T (p.Glu1319Val)
c.3962A>T (p.Glu1321Val)
c.2087A>T (p.Glu696Val)
6g.129315613delCA2740787083LAMA2c.3693del (p.Glu1231AspfsTer16)
c.3957del (p.Glu1319AspfsTer16)
c.3963del (p.Glu1321AspfsTer16)
c.2088del (p.Glu696AspfsTer16)
6g.129315613A=CA1663080006LAMA2c.3693A= (p.Glu1231=)
c.3957A= (p.Glu1319=)
c.3963A= (p.Glu1321=)
c.2088A= (p.Glu696=)
6g.129315613A>CCA365613046LAMA2c.3693A>C (p.Glu1231Asp)
c.3957A>C (p.Glu1319Asp)
c.3963A>C (p.Glu1321Asp)
c.2088A>C (p.Glu696Asp)
6g.129315613A>GCA451936765LAMA2c.3693A>G (p.Glu1231=)
c.3957A>G (p.Glu1319=)
c.3963A>G (p.Glu1321=)
c.2088A>G (p.Glu696=)
 ClinVar dbSNP
6g.129315613A>TCA365613047LAMA2c.3693A>T (p.Glu1231Asp)
c.3957A>T (p.Glu1319Asp)
c.3963A>T (p.Glu1321Asp)
c.2088A>T (p.Glu696Asp)
 COSMIC
6g.129315614C>ACA3993332LAMA2c.3694C>A (p.Pro1232Thr)
c.3958C>A (p.Pro1320Thr)
c.3964C>A (p.Pro1322Thr)
c.2089C>A (p.Pro697Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315614C=CA1663080019LAMA2c.3694C= (p.Pro1232=)
c.3958C= (p.Pro1320=)
c.3964C= (p.Pro1322=)
c.2089C= (p.Pro697=)
6g.129315614C>GCA3993331LAMA2c.3694C>G (p.Pro1232Ala)
c.3958C>G (p.Pro1320Ala)
c.3964C>G (p.Pro1322Ala)
c.2089C>G (p.Pro697Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315614C>TCA146914111LAMA2c.3694C>T (p.Pro1232Ser)
c.3958C>T (p.Pro1320Ser)
c.3964C>T (p.Pro1322Ser)
c.2089C>T (p.Pro697Ser)
 dbSNP gnomAD v4
6g.129315615C>ACA3993333LAMA2c.3695C>A (p.Pro1232His)
c.3959C>A (p.Pro1320His)
c.3965C>A (p.Pro1322His)
c.2090C>A (p.Pro697His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315615C=CA1663080037LAMA2c.3695C= (p.Pro1232=)
c.3959C= (p.Pro1320=)
c.3965C= (p.Pro1322=)
c.2090C= (p.Pro697=)
6g.129315615C>GCA365613050LAMA2c.3695C>G (p.Pro1232Arg)
c.3959C>G (p.Pro1320Arg)
c.3965C>G (p.Pro1322Arg)
c.2090C>G (p.Pro697Arg)
6g.129315615C>TCA365613052LAMA2c.3695C>T (p.Pro1232Leu)
c.3959C>T (p.Pro1320Leu)
c.3965C>T (p.Pro1322Leu)
c.2090C>T (p.Pro697Leu)
6g.129315616T>ACA451936766LAMA2c.3696T>A (p.Pro1232=)
c.3960T>A (p.Pro1320=)
c.3966T>A (p.Pro1322=)
c.2091T>A (p.Pro697=)
6g.129315616T>CCA451936767LAMA2c.3696T>C (p.Pro1232=)
c.3960T>C (p.Pro1320=)
c.3966T>C (p.Pro1322=)
c.2091T>C (p.Pro697=)
6g.129315616T>GCA451936768LAMA2c.3696T>G (p.Pro1232=)
c.3960T>G (p.Pro1320=)
c.3966T>G (p.Pro1322=)
c.2091T>G (p.Pro697=)
6g.129315617T>ACA365613054LAMA2c.3697T>A (p.Phe1233Ile)
c.3961T>A (p.Phe1321Ile)
c.3967T>A (p.Phe1323Ile)
c.2092T>A (p.Phe698Ile)
6g.129315617T>CCA365613056LAMA2c.3697T>C (p.Phe1233Leu)
c.3961T>C (p.Phe1321Leu)
c.3967T>C (p.Phe1323Leu)
c.2092T>C (p.Phe698Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.129315617T>GCA365613057LAMA2c.3697T>G (p.Phe1233Val)
c.3961T>G (p.Phe1321Val)
c.3967T>G (p.Phe1323Val)
c.2092T>G (p.Phe698Val)
6g.129315617T=CA1663080043LAMA2c.3697T= (p.Phe1233=)
c.3961T= (p.Phe1321=)
c.3967T= (p.Phe1323=)
c.2092T= (p.Phe698=)
6g.129315620_129315621insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACCTTTTCA2580615764LAMA2c.3700_3701insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACCTTTT (p.Tyr1234PhefsTer9)
c.3964_3965insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACCTTTT (p.Tyr1322PhefsTer9)
c.3970_3971insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACCTTTT (p.Tyr1324PhefsTer9)
c.2095_2096insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACCTTTT (p.Tyr699PhefsTer9)
6g.129315618T>ACA365613058LAMA2c.3698T>A (p.Phe1233Tyr)
c.3962T>A (p.Phe1321Tyr)
c.3968T>A (p.Phe1323Tyr)
c.2093T>A (p.Phe698Tyr)
6g.129315618T>CCA365613060LAMA2c.3698T>C (p.Phe1233Ser)
c.3962T>C (p.Phe1321Ser)
c.3968T>C (p.Phe1323Ser)
c.2093T>C (p.Phe698Ser)
6g.129315618T>GCA365613059LAMA2c.3698T>G (p.Phe1233Cys)
c.3962T>G (p.Phe1321Cys)
c.3968T>G (p.Phe1323Cys)
c.2093T>G (p.Phe698Cys)
6g.129315619T>ACA365613061LAMA2c.3699T>A (p.Phe1233Leu)
c.3963T>A (p.Phe1321Leu)
c.3969T>A (p.Phe1323Leu)
c.2094T>A (p.Phe698Leu)
6g.129315619T>CCA451936769LAMA2c.3699T>C (p.Phe1233=)
c.3963T>C (p.Phe1321=)
c.3969T>C (p.Phe1323=)
c.2094T>C (p.Phe698=)
6g.129315619T>GCA365613062LAMA2c.3699T>G (p.Phe1233Leu)
c.3963T>G (p.Phe1321Leu)
c.3969T>G (p.Phe1323Leu)
c.2094T>G (p.Phe698Leu)
6g.129315620T>ACA365613063LAMA2c.3700T>A (p.Tyr1234Asn)
c.3964T>A (p.Tyr1322Asn)
c.3970T>A (p.Tyr1324Asn)
c.2095T>A (p.Tyr699Asn)
6g.129315620T>CCA365613064LAMA2c.3700T>C (p.Tyr1234His)
c.3964T>C (p.Tyr1322His)
c.3970T>C (p.Tyr1324His)
c.2095T>C (p.Tyr699His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129315620T>GCA365613065LAMA2c.3700T>G (p.Tyr1234Asp)
c.3964T>G (p.Tyr1322Asp)
c.3970T>G (p.Tyr1324Asp)
c.2095T>G (p.Tyr699Asp)
6g.129315620T=CA1663080048LAMA2c.3700T= (p.Tyr1234=)
c.3964T= (p.Tyr1322=)
c.3970T= (p.Tyr1324=)
c.2095T= (p.Tyr699=)
6g.129315621delCA2578737113LAMA2c.3701del (p.Tyr1234PhefsTer13)
c.3965del (p.Tyr1322PhefsTer13)
c.3971del (p.Tyr1324PhefsTer13)
c.2096del (p.Tyr699PhefsTer13)
6g.129315621A=CA1663080050LAMA2c.3701A= (p.Tyr1234=)
c.3965A= (p.Tyr1322=)
c.3971A= (p.Tyr1324=)
c.2096A= (p.Tyr699=)
6g.129315621A>CCA365613066LAMA2c.3701A>C (p.Tyr1234Ser)
c.3965A>C (p.Tyr1322Ser)
c.3971A>C (p.Tyr1324Ser)
c.2096A>C (p.Tyr699Ser)
6g.129315621A>GCA365613067LAMA2c.3701A>G (p.Tyr1234Cys)
c.3965A>G (p.Tyr1322Cys)
c.3971A>G (p.Tyr1324Cys)
c.2096A>G (p.Tyr699Cys)
 gnomAD v4
6g.129315621A>TCA365613068LAMA2c.3701A>T (p.Tyr1234Phe)
c.3965A>T (p.Tyr1322Phe)
c.3971A>T (p.Tyr1324Phe)
c.2096A>T (p.Tyr699Phe)
 dbSNP
6g.129315621dupCA2680313966LAMA2c.3701dup (p.Tyr1234Ter)
c.3965dup (p.Tyr1322Ter)
c.3971dup (p.Tyr1324Ter)
c.2096dup (p.Tyr699Ter)
 gnomAD v4
6g.129315622T>ACA365613069LAMA2c.3702T>A (p.Tyr1234Ter)
c.3966T>A (p.Tyr1322Ter)
c.3972T>A (p.Tyr1324Ter)
c.2097T>A (p.Tyr699Ter)
6g.129315622T>CCA3993334LAMA2c.3702T>C (p.Tyr1234=)
c.3966T>C (p.Tyr1322=)
c.3972T>C (p.Tyr1324=)
c.2097T>C (p.Tyr699=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315622T>GCA365613070LAMA2c.3702T>G (p.Tyr1234Ter)
c.3966T>G (p.Tyr1322Ter)
c.3972T>G (p.Tyr1324Ter)
c.2097T>G (p.Tyr699Ter)
6g.129315622T=CA1663080055LAMA2c.3702T= (p.Tyr1234=)
c.3966T= (p.Tyr1322=)
c.3972T= (p.Tyr1324=)
c.2097T= (p.Tyr699=)
6g.129315623T>ACA365613073LAMA2c.3703T>A (p.Trp1235Arg)
c.3967T>A (p.Trp1323Arg)
c.3973T>A (p.Trp1325Arg)
c.2098T>A (p.Trp700Arg)
 gnomAD v4
6g.129315623T>CCA365613072LAMA2c.3703T>C (p.Trp1235Arg)
c.3967T>C (p.Trp1323Arg)
c.3973T>C (p.Trp1325Arg)
c.2098T>C (p.Trp700Arg)
 COSMIC
6g.129315623T>GCA365613071LAMA2c.3703T>G (p.Trp1235Gly)
c.3967T>G (p.Trp1323Gly)
c.3973T>G (p.Trp1325Gly)
c.2098T>G (p.Trp700Gly)
6g.129315624G>ACA365613074LAMA2c.3704G>A (p.Trp1235Ter)
c.3968G>A (p.Trp1323Ter)
c.3974G>A (p.Trp1325Ter)
c.2099G>A (p.Trp700Ter)
 ClinVar dbSNP
6g.129315624G>CCA365613076LAMA2c.3704G>C (p.Trp1235Ser)
c.3968G>C (p.Trp1323Ser)
c.3974G>C (p.Trp1325Ser)
c.2099G>C (p.Trp700Ser)
6g.129315624G=CA1663080058LAMA2c.3704G= (p.Trp1235=)
c.3968G= (p.Trp1323=)
c.3974G= (p.Trp1325=)
c.2099G= (p.Trp700=)
6g.129315624G>TCA365613075LAMA2c.3704G>T (p.Trp1235Leu)
c.3968G>T (p.Trp1323Leu)
c.3974G>T (p.Trp1325Leu)
c.2099G>T (p.Trp700Leu)
6g.129315625G>ACA365613077LAMA2c.3705G>A (p.Trp1235Ter)
c.3969G>A (p.Trp1323Ter)
c.3975G>A (p.Trp1325Ter)
c.2100G>A (p.Trp700Ter)
 ClinVar COSMIC
6g.129315625G>CCA365613079LAMA2c.3705G>C (p.Trp1235Cys)
c.3969G>C (p.Trp1323Cys)
c.3975G>C (p.Trp1325Cys)
c.2100G>C (p.Trp700Cys)
6g.129315625G>TCA365613078LAMA2c.3705G>T (p.Trp1235Cys)
c.3969G>T (p.Trp1323Cys)
c.3975G>T (p.Trp1325Cys)
c.2100G>T (p.Trp700Cys)
6g.129315626A=CA1663080067LAMA2c.3706A= (p.Lys1236=)
c.3970A= (p.Lys1324=)
c.3976A= (p.Lys1326=)
c.2101A= (p.Lys701=)
6g.129315626A>CCA365613080LAMA2c.3706A>C (p.Lys1236Gln)
c.3970A>C (p.Lys1324Gln)
c.3976A>C (p.Lys1326Gln)
c.2101A>C (p.Lys701Gln)
6g.129315626A>GCA365613082LAMA2c.3706A>G (p.Lys1236Glu)
c.3970A>G (p.Lys1324Glu)
c.3976A>G (p.Lys1326Glu)
c.2101A>G (p.Lys701Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129315626A>TCA365613081LAMA2c.3706A>T (p.Lys1236Ter)
c.3970A>T (p.Lys1324Ter)
c.3976A>T (p.Lys1326Ter)
c.2101A>T (p.Lys701Ter)
6g.129315627A>CCA365613083LAMA2c.3707A>C (p.Lys1236Thr)
c.3971A>C (p.Lys1324Thr)
c.3977A>C (p.Lys1326Thr)
c.2102A>C (p.Lys701Thr)
 gnomAD v4
6g.129315627A>GCA365613085LAMA2c.3707A>G (p.Lys1236Arg)
c.3971A>G (p.Lys1324Arg)
c.3977A>G (p.Lys1326Arg)
c.2102A>G (p.Lys701Arg)
 gnomAD v4
6g.129315627A>TCA365613084LAMA2c.3707A>T (p.Lys1236Ile)
c.3971A>T (p.Lys1324Ile)
c.3977A>T (p.Lys1326Ile)
c.2102A>T (p.Lys701Ile)
6g.129315628A>CCA365613086LAMA2c.3708A>C (p.Lys1236Asn)
c.3972A>C (p.Lys1324Asn)
c.3978A>C (p.Lys1326Asn)
c.2103A>C (p.Lys701Asn)
6g.129315628A>GCA451936770LAMA2c.3708A>G (p.Lys1236=)
c.3972A>G (p.Lys1324=)
c.3978A>G (p.Lys1326=)
c.2103A>G (p.Lys701=)
6g.129315628A>TCA365613087LAMA2c.3708A>T (p.Lys1236Asn)
c.3972A>T (p.Lys1324Asn)
c.3978A>T (p.Lys1326Asn)
c.2103A>T (p.Lys701Asn)
6g.129315629C>ACA365613088LAMA2c.3709C>A (p.Leu1237Ile)
c.3973C>A (p.Leu1325Ile)
c.3979C>A (p.Leu1327Ile)
c.2104C>A (p.Leu702Ile)
 dbSNP gnomAD v2 gnomAD v4
6g.129315629C=CA1663080079LAMA2c.3709C= (p.Leu1237=)
c.3973C= (p.Leu1325=)
c.3979C= (p.Leu1327=)
c.2104C= (p.Leu702=)
6g.129315629C>GCA365613089LAMA2c.3709C>G (p.Leu1237Val)
c.3973C>G (p.Leu1325Val)
c.3979C>G (p.Leu1327Val)
c.2104C>G (p.Leu702Val)
6g.129315629C>TCA365613090LAMA2c.3709C>T (p.Leu1237Phe)
c.3973C>T (p.Leu1325Phe)
c.3979C>T (p.Leu1327Phe)
c.2104C>T (p.Leu702Phe)
6g.129315630T>ACA365613091LAMA2c.3710T>A (p.Leu1237His)
c.3974T>A (p.Leu1325His)
c.3980T>A (p.Leu1327His)
c.2105T>A (p.Leu702His)
6g.129315630T>CCA365613092LAMA2c.3710T>C (p.Leu1237Pro)
c.3974T>C (p.Leu1325Pro)
c.3980T>C (p.Leu1327Pro)
c.2105T>C (p.Leu702Pro)
6g.129315630T>GCA365613093LAMA2c.3710T>G (p.Leu1237Arg)
c.3974T>G (p.Leu1325Arg)
c.3980T>G (p.Leu1327Arg)
c.2105T>G (p.Leu702Arg)
6g.129315631T>ACA451936771LAMA2c.3711T>A (p.Leu1237=)
c.3975T>A (p.Leu1325=)
c.3981T>A (p.Leu1327=)
c.2106T>A (p.Leu702=)
6g.129315631T>CCA451936773LAMA2c.3711T>C (p.Leu1237=)
c.3975T>C (p.Leu1325=)
c.3981T>C (p.Leu1327=)
c.2106T>C (p.Leu702=)
6g.129315631T>GCA451936772LAMA2c.3711T>G (p.Leu1237=)
c.3975T>G (p.Leu1325=)
c.3981T>G (p.Leu1327=)
c.2106T>G (p.Leu702=)
6g.129315632C>ACA365613096LAMA2c.3712C>A (p.Pro1238Thr)
c.3976C>A (p.Pro1326Thr)
c.3982C>A (p.Pro1328Thr)
c.2107C>A (p.Pro703Thr)
6g.129315632C=CA1663080083LAMA2c.3712C= (p.Pro1238=)
c.3976C= (p.Pro1326=)
c.3982C= (p.Pro1328=)
c.2107C= (p.Pro703=)
6g.129315632C>GCA365613095LAMA2c.3712C>G (p.Pro1238Ala)
c.3976C>G (p.Pro1326Ala)
c.3982C>G (p.Pro1328Ala)
c.2107C>G (p.Pro703Ala)
 dbSNP
6g.129315632C>TCA365613094LAMA2c.3712C>T (p.Pro1238Ser)
c.3976C>T (p.Pro1326Ser)
c.3982C>T (p.Pro1328Ser)
c.2107C>T (p.Pro703Ser)
 COSMIC
6g.129315633C>ACA365613097LAMA2c.3713C>A (p.Pro1238Gln)
c.3977C>A (p.Pro1326Gln)
c.3983C>A (p.Pro1328Gln)
c.2108C>A (p.Pro703Gln)
6g.129315633C>GCA365613098LAMA2c.3713C>G (p.Pro1238Arg)
c.3977C>G (p.Pro1326Arg)
c.3983C>G (p.Pro1328Arg)
c.2108C>G (p.Pro703Arg)
6g.129315633C>TCA365613099LAMA2c.3713C>T (p.Pro1238Leu)
c.3977C>T (p.Pro1326Leu)
c.3983C>T (p.Pro1328Leu)
c.2108C>T (p.Pro703Leu)
 gnomAD v4
6g.129315634A=CA1663080087LAMA2c.3714A= (p.Pro1238=)
c.3978A= (p.Pro1326=)
c.3984A= (p.Pro1328=)
c.2109A= (p.Pro703=)
6g.129315634A>CCA451936774LAMA2c.3714A>C (p.Pro1238=)
c.3978A>C (p.Pro1326=)
c.3984A>C (p.Pro1328=)
c.2109A>C (p.Pro703=)
6g.129315634A>GCA451936775LAMA2c.3714A>G (p.Pro1238=)
c.3978A>G (p.Pro1326=)
c.3984A>G (p.Pro1328=)
c.2109A>G (p.Pro703=)
 dbSNP gnomAD v2 gnomAD v4
6g.129315634A>TCA451936776LAMA2c.3714A>T (p.Pro1238=)
c.3978A>T (p.Pro1326=)
c.3984A>T (p.Pro1328=)
c.2109A>T (p.Pro703=)
 COSMIC
6g.129315635G>ACA365613100LAMA2c.3715G>A (p.Glu1239Lys)
c.3979G>A (p.Glu1327Lys)
c.3985G>A (p.Glu1329Lys)
c.2110G>A (p.Glu704Lys)
6g.129315635G>CCA365613101LAMA2c.3715G>C (p.Glu1239Gln)
c.3979G>C (p.Glu1327Gln)
c.3985G>C (p.Glu1329Gln)
c.2110G>C (p.Glu704Gln)
6g.129315635G>TCA365613102LAMA2c.3715G>T (p.Glu1239Ter)
c.3979G>T (p.Glu1327Ter)
c.3985G>T (p.Glu1329Ter)
c.2110G>T (p.Glu704Ter)
 COSMIC
6g.129315636A=CA1663080096LAMA2c.3716A= (p.Glu1239=)
c.3980A= (p.Glu1327=)
c.3986A= (p.Glu1329=)
c.2111A= (p.Glu704=)
6g.129315636A>CCA365613103LAMA2c.3716A>C (p.Glu1239Ala)
c.3980A>C (p.Glu1327Ala)
c.3986A>C (p.Glu1329Ala)
c.2111A>C (p.Glu704Ala)
6g.129315636A>GCA365613105LAMA2c.3716A>G (p.Glu1239Gly)
c.3980A>G (p.Glu1327Gly)
c.3986A>G (p.Glu1329Gly)
c.2111A>G (p.Glu704Gly)
 ClinVar dbSNP gnomAD v4
6g.129315636A>TCA365613104LAMA2c.3716A>T (p.Glu1239Val)
c.3980A>T (p.Glu1327Val)
c.3986A>T (p.Glu1329Val)
c.2111A>T (p.Glu704Val)
6g.129315637A>CCA365613106LAMA2c.3717A>C (p.Glu1239Asp)
c.3981A>C (p.Glu1327Asp)
c.3987A>C (p.Glu1329Asp)
c.2112A>C (p.Glu704Asp)
6g.129315637A>GCA451936777LAMA2c.3717A>G (p.Glu1239=)
c.3981A>G (p.Glu1327=)
c.3987A>G (p.Glu1329=)
c.2112A>G (p.Glu704=)
 ClinVar gnomAD v4
6g.129315637A>TCA365613107LAMA2c.3717A>T (p.Glu1239Asp)
c.3981A>T (p.Glu1327Asp)
c.3987A>T (p.Glu1329Asp)
c.2112A>T (p.Glu704Asp)
6g.129315638C>ACA365613108LAMA2c.3718C>A (p.Gln1240Lys)
c.3982C>A (p.Gln1328Lys)
c.3988C>A (p.Gln1330Lys)
c.2113C>A (p.Gln705Lys)
6g.129315638C=CA1663080101LAMA2c.3718C= (p.Gln1240=)
c.3982C= (p.Gln1328=)
c.3988C= (p.Gln1330=)
c.2113C= (p.Gln705=)
6g.129315638C>GCA365613109LAMA2c.3718C>G (p.Gln1240Glu)
c.3982C>G (p.Gln1328Glu)
c.3988C>G (p.Gln1330Glu)
c.2113C>G (p.Gln705Glu)
6g.129315638C>TCA220762LAMA2c.3718C>T (p.Gln1240Ter)
c.3982C>T (p.Gln1328Ter)
c.3988C>T (p.Gln1330Ter)
c.2113C>T (p.Gln705Ter)
 ClinVar dbSNP
6g.129315639A>CCA365613110LAMA2c.3719A>C (p.Gln1240Pro)
c.3983A>C (p.Gln1328Pro)
c.3989A>C (p.Gln1330Pro)
c.2114A>C (p.Gln705Pro)
6g.129315639A>GCA365613111LAMA2c.3719A>G (p.Gln1240Arg)
c.3983A>G (p.Gln1328Arg)
c.3989A>G (p.Gln1330Arg)
c.2114A>G (p.Gln705Arg)
6g.129315639A>TCA365613112LAMA2c.3719A>T (p.Gln1240Leu)
c.3983A>T (p.Gln1328Leu)
c.3989A>T (p.Gln1330Leu)
c.2114A>T (p.Gln705Leu)
6g.129315640A=CA1663080111LAMA2c.3720A= (p.Gln1240=)
c.3984A= (p.Gln1328=)
c.3990A= (p.Gln1330=)
c.2115A= (p.Gln705=)
6g.129315640A>CCA365613113LAMA2c.3720A>C (p.Gln1240His)
c.3984A>C (p.Gln1328His)
c.3990A>C (p.Gln1330His)
c.2115A>C (p.Gln705His)
 COSMIC
6g.129315640A>GCA3993335LAMA2c.3720A>G (p.Gln1240=)
c.3984A>G (p.Gln1328=)
c.3990A>G (p.Gln1330=)
c.2115A>G (p.Gln705=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129315640A>TCA365613114LAMA2c.3720A>T (p.Gln1240His)
c.3984A>T (p.Gln1328His)
c.3990A>T (p.Gln1330His)
c.2115A>T (p.Gln705His)
6g.129315641T>ACA365613115LAMA2c.3721T>A (p.Phe1241Ile)
c.3985T>A (p.Phe1329Ile)
c.3991T>A (p.Phe1331Ile)
c.2116T>A (p.Phe706Ile)
6g.129315641T>CCA365613117LAMA2c.3721T>C (p.Phe1241Leu)
c.3985T>C (p.Phe1329Leu)
c.3991T>C (p.Phe1331Leu)
c.2116T>C (p.Phe706Leu)
6g.129315641T>GCA365613116LAMA2c.3721T>G (p.Phe1241Val)
c.3985T>G (p.Phe1329Val)
c.3991T>G (p.Phe1331Val)
c.2116T>G (p.Phe706Val)
6g.129315642T>ACA365613118LAMA2c.3722T>A (p.Phe1241Tyr)
c.3986T>A (p.Phe1329Tyr)
c.3992T>A (p.Phe1331Tyr)
c.2117T>A (p.Phe706Tyr)
6g.129315642T>CCA365613119LAMA2c.3722T>C (p.Phe1241Ser)
c.3986T>C (p.Phe1329Ser)
c.3992T>C (p.Phe1331Ser)
c.2117T>C (p.Phe706Ser)
6g.129315642T>GCA365613120LAMA2c.3722T>G (p.Phe1241Cys)
c.3986T>G (p.Phe1329Cys)
c.3992T>G (p.Phe1331Cys)
c.2117T>G (p.Phe706Cys)
6g.129315643T>ACA365613121LAMA2c.3723T>A (p.Phe1241Leu)
c.3987T>A (p.Phe1329Leu)
c.3993T>A (p.Phe1331Leu)
c.2118T>A (p.Phe706Leu)
 gnomAD v4
6g.129315643T>CCA451936778LAMA2c.3723T>C (p.Phe1241=)
c.3987T>C (p.Phe1329=)
c.3993T>C (p.Phe1331=)
c.2118T>C (p.Phe706=)
6g.129315643T>GCA365613122LAMA2c.3723T>G (p.Phe1241Leu)
c.3987T>G (p.Phe1329Leu)
c.3993T>G (p.Phe1331Leu)
c.2118T>G (p.Phe706Leu)
6g.129315644G>ACA3993336LAMA2c.3724G>A (p.Glu1242Lys)
c.3988G>A (p.Glu1330Lys)
c.3994G>A (p.Glu1332Lys)
c.2119G>A (p.Glu707Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129315644G>CCA365613123LAMA2c.3724G>C (p.Glu1242Gln)
c.3988G>C (p.Glu1330Gln)
c.3994G>C (p.Glu1332Gln)
c.2119G>C (p.Glu707Gln)
6g.129315644G=CA1663080116LAMA2c.3724G= (p.Glu1242=)
c.3988G= (p.Glu1330=)
c.3994G= (p.Glu1332=)
c.2119G= (p.Glu707=)
6g.129315644G>TCA365613124LAMA2c.3724G>T (p.Glu1242Ter)
c.3988G>T (p.Glu1330Ter)
c.3994G>T (p.Glu1332Ter)
c.2119G>T (p.Glu707Ter)
6g.129315645A>CCA365613125LAMA2c.3725A>C (p.Glu1242Ala)
c.3989A>C (p.Glu1330Ala)
c.3995A>C (p.Glu1332Ala)
c.2120A>C (p.Glu707Ala)
6g.129315645A>GCA365613126LAMA2c.3725A>G (p.Glu1242Gly)
c.3989A>G (p.Glu1330Gly)
c.3995A>G (p.Glu1332Gly)
c.2120A>G (p.Glu707Gly)
6g.129315645A>TCA365613127LAMA2c.3725A>T (p.Glu1242Val)
c.3989A>T (p.Glu1330Val)
c.3995A>T (p.Glu1332Val)
c.2120A>T (p.Glu707Val)
6g.129315646delCA2695206986LAMA2c.3726del (p.Gly1243GlufsTer4)
c.3990del (p.Gly1331GlufsTer4)
c.3996del (p.Gly1333GlufsTer4)
c.2121del (p.Gly708GlufsTer4)
6g.129315646A>CCA365613128LAMA2c.3726A>C (p.Glu1242Asp)
c.3990A>C (p.Glu1330Asp)
c.3996A>C (p.Glu1332Asp)
c.2121A>C (p.Glu707Asp)
6g.129315646A>GCA451936779LAMA2c.3726A>G (p.Glu1242=)
c.3990A>G (p.Glu1330=)
c.3996A>G (p.Glu1332=)
c.2121A>G (p.Glu707=)
6g.129315646A>TCA365613129LAMA2c.3726A>T (p.Glu1242Asp)
c.3990A>T (p.Glu1330Asp)
c.3996A>T (p.Glu1332Asp)
c.2121A>T (p.Glu707Asp)
6g.129315647G>ACA365613130LAMA2c.3727G>A (p.Gly1243Arg)
c.3991G>A (p.Gly1331Arg)
c.3997G>A (p.Gly1333Arg)
c.2122G>A (p.Gly708Arg)
 ClinVar
6g.129315647G>CCA365613132LAMA2c.3727G>C (p.Gly1243Arg)
c.3991G>C (p.Gly1331Arg)
c.3997G>C (p.Gly1333Arg)
c.2122G>C (p.Gly708Arg)
6g.129315647G>TCA365613131LAMA2c.3727G>T (p.Gly1243Ter)
c.3991G>T (p.Gly1331Ter)
c.3997G>T (p.Gly1333Ter)
c.2122G>T (p.Gly708Ter)
6g.129315648G>ACA146914121LAMA2c.3728G>A (p.Gly1243Glu)
c.3992G>A (p.Gly1331Glu)
c.3998G>A (p.Gly1333Glu)
c.2123G>A (p.Gly708Glu)
 dbSNP
6g.129315648G>CCA365613133LAMA2c.3728G>C (p.Gly1243Ala)
c.3992G>C (p.Gly1331Ala)
c.3998G>C (p.Gly1333Ala)
c.2123G>C (p.Gly708Ala)
 gnomAD v4
6g.129315648G=CA1663080118LAMA2c.3728G= (p.Gly1243=)
c.3992G= (p.Gly1331=)
c.3998G= (p.Gly1333=)
c.2123G= (p.Gly708=)
6g.129315648G>TCA365613134LAMA2c.3728G>T (p.Gly1243Val)
c.3992G>T (p.Gly1331Val)
c.3998G>T (p.Gly1333Val)
c.2123G>T (p.Gly708Val)
6g.129315649A=CA1663080121LAMA2c.3729A= (p.Gly1243=)
c.3993A= (p.Gly1331=)
c.3999A= (p.Gly1333=)
c.2124A= (p.Gly708=)
6g.129315649A>CCA451936780LAMA2c.3729A>C (p.Gly1243=)
c.3993A>C (p.Gly1331=)
c.3999A>C (p.Gly1333=)
c.2124A>C (p.Gly708=)
6g.129315649A>GCA451936781LAMA2c.3729A>G (p.Gly1243=)
c.3993A>G (p.Gly1331=)
c.3999A>G (p.Gly1333=)
c.2124A>G (p.Gly708=)
 dbSNP
6g.129315649A>TCA451936782LAMA2c.3729A>T (p.Gly1243=)
c.3993A>T (p.Gly1331=)
c.3999A>T (p.Gly1333=)
c.2124A>T (p.Gly708=)

Number of alleles fetched