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.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

Number of alleles fetched