Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.129297746_129297764delCA2740091475LAMA2c.2918_2936del (p.Gly973ValfsTer?)
c.3182_3200del (p.Gly1061ValfsTer?)
c.433_451del
c.3188_3206del (p.Gly1063ValfsTer?)
c.1313_1331del (p.Gly438ValfsTer?)
 ClinVar
6g.129297752A=CA1663102426LAMA2c.2924A= (p.Lys975=)
c.3188A= (p.Lys1063=)
c.439A=
c.3194A= (p.Lys1065=)
c.1319A= (p.Lys440=)
6g.129297752A>CCA365611042LAMA2c.2924A>C (p.Lys975Thr)
c.3188A>C (p.Lys1063Thr)
c.439A>C
c.3194A>C (p.Lys1065Thr)
c.1319A>C (p.Lys440Thr)
6g.129297752A>GCA365611043LAMA2c.2924A>G (p.Lys975Arg)
c.3188A>G (p.Lys1063Arg)
c.439A>G
c.3194A>G (p.Lys1065Arg)
c.1319A>G (p.Lys440Arg)
 dbSNP gnomAD v4
6g.129297752A>TCA365611044LAMA2c.2924A>T (p.Lys975Met)
c.3188A>T (p.Lys1063Met)
c.439A>T
c.3194A>T (p.Lys1065Met)
c.1319A>T (p.Lys440Met)
6g.129297753G>ACA451936140LAMA2c.2925G>A (p.Lys975=)
c.3189G>A (p.Lys1063=)
c.440G>A
c.3195G>A (p.Lys1065=)
c.1320G>A (p.Lys440=)
6g.129297753G>CCA365611046LAMA2c.2925G>C (p.Lys975Asn)
c.3189G>C (p.Lys1063Asn)
c.440G>C
c.3195G>C (p.Lys1065Asn)
c.1320G>C (p.Lys440Asn)
6g.129297753G>TCA365611045LAMA2c.2925G>T (p.Lys975Asn)
c.3189G>T (p.Lys1063Asn)
c.440G>T
c.3195G>T (p.Lys1065Asn)
c.1320G>T (p.Lys440Asn)
6g.129297754T>ACA365611047LAMA2c.2926T>A (p.Ser976Thr)
c.3190T>A (p.Ser1064Thr)
c.441T>A
c.3196T>A (p.Ser1066Thr)
c.1321T>A (p.Ser441Thr)
6g.129297754T>CCA365611048LAMA2c.2926T>C (p.Ser976Pro)
c.3190T>C (p.Ser1064Pro)
c.441T>C
c.3196T>C (p.Ser1066Pro)
c.1321T>C (p.Ser441Pro)
6g.129297754T>GCA365611049LAMA2c.2926T>G (p.Ser976Ala)
c.3190T>G (p.Ser1064Ala)
c.441T>G
c.3196T>G (p.Ser1066Ala)
c.1321T>G (p.Ser441Ala)
6g.129297755C>ACA365611050LAMA2c.2927C>A (p.Ser976Ter)
c.3191C>A (p.Ser1064Ter)
c.442C>A
c.3197C>A (p.Ser1066Ter)
c.1322C>A (p.Ser441Ter)
 COSMIC
6g.129297755C>GCA365611051LAMA2c.2927C>G (p.Ser976Ter)
c.3191C>G (p.Ser1064Ter)
c.442C>G
c.3197C>G (p.Ser1066Ter)
c.1322C>G (p.Ser441Ter)
6g.129297755C>TCA365611052LAMA2c.2927C>T (p.Ser976Leu)
c.3191C>T (p.Ser1064Leu)
c.442C>T
c.3197C>T (p.Ser1066Leu)
c.1322C>T (p.Ser441Leu)
6g.129297756A>CCA451936141LAMA2c.2928A>C (p.Ser976=)
c.3192A>C (p.Ser1064=)
c.443A>C
c.3198A>C (p.Ser1066=)
c.1323A>C (p.Ser441=)
6g.129297756A>GCA451936143LAMA2c.2928A>G (p.Ser976=)
c.3192A>G (p.Ser1064=)
c.443A>G
c.3198A>G (p.Ser1066=)
c.1323A>G (p.Ser441=)
6g.129297756A>TCA451936142LAMA2c.2928A>T (p.Ser976=)
c.3192A>T (p.Ser1064=)
c.443A>T
c.3198A>T (p.Ser1066=)
c.1323A>T (p.Ser441=)
6g.129297757T>ACA365611053LAMA2c.2929T>A (p.Phe977Ile)
c.3193T>A (p.Phe1065Ile)
c.444T>A
c.3199T>A (p.Phe1067Ile)
c.1324T>A (p.Phe442Ile)
6g.129297757T>CCA365611054LAMA2c.2929T>C (p.Phe977Leu)
c.3193T>C (p.Phe1065Leu)
c.444T>C
c.3199T>C (p.Phe1067Leu)
c.1324T>C (p.Phe442Leu)
 gnomAD v4
6g.129297757T>GCA365611055LAMA2c.2929T>G (p.Phe977Val)
c.3193T>G (p.Phe1065Val)
c.444T>G
c.3199T>G (p.Phe1067Val)
c.1324T>G (p.Phe442Val)
6g.129297758T>ACA365611056LAMA2c.2930T>A (p.Phe977Tyr)
c.3194T>A (p.Phe1065Tyr)
c.445T>A
c.3200T>A (p.Phe1067Tyr)
c.1325T>A (p.Phe442Tyr)
6g.129297758T>CCA365611057LAMA2c.2930T>C (p.Phe977Ser)
c.3194T>C (p.Phe1065Ser)
c.445T>C
c.3200T>C (p.Phe1067Ser)
c.1325T>C (p.Phe442Ser)
 gnomAD v4
6g.129297758T>GCA365611058LAMA2c.2930T>G (p.Phe977Cys)
c.3194T>G (p.Phe1065Cys)
c.445T>G
c.3200T>G (p.Phe1067Cys)
c.1325T>G (p.Phe442Cys)
6g.129297759C>ACA365611059LAMA2c.2931C>A (p.Phe977Leu)
c.3195C>A (p.Phe1065Leu)
c.446C>A
c.3201C>A (p.Phe1067Leu)
c.1326C>A (p.Phe442Leu)
6g.129297759C=CA1663102429LAMA2c.2931C= (p.Phe977=)
c.3195C= (p.Phe1065=)
c.446C=
c.3201C= (p.Phe1067=)
c.1326C= (p.Phe442=)
6g.129297759C>GCA365611060LAMA2c.2931C>G (p.Phe977Leu)
c.3195C>G (p.Phe1065Leu)
c.446C>G
c.3201C>G (p.Phe1067Leu)
c.1326C>G (p.Phe442Leu)
6g.129297759C>TCA3993111LAMA2c.2931C>T (p.Phe977=)
c.3195C>T (p.Phe1065=)
c.446C>T
c.3201C>T (p.Phe1067=)
c.1326C>T (p.Phe442=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.129297760G>ACA3993112LAMA2c.2932G>A (p.Asp978Asn)
c.3196G>A (p.Asp1066Asn)
c.447G>A
c.3202G>A (p.Asp1068Asn)
c.1327G>A (p.Asp443Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129297760G>CCA365611061LAMA2c.2932G>C (p.Asp978His)
c.3196G>C (p.Asp1066His)
c.447G>C
c.3202G>C (p.Asp1068His)
c.1327G>C (p.Asp443His)
6g.129297760G=CA1663102433LAMA2c.2932G= (p.Asp978=)
c.3196G= (p.Asp1066=)
c.447G=
c.3202G= (p.Asp1068=)
c.1327G= (p.Asp443=)
6g.129297760G>TCA365611062LAMA2c.2932G>T (p.Asp978Tyr)
c.3196G>T (p.Asp1066Tyr)
c.447G>T
c.3202G>T (p.Asp1068Tyr)
c.1327G>T (p.Asp443Tyr)
 gnomAD v4
6g.129297761A>CCA365611063LAMA2c.2933A>C (p.Asp978Ala)
c.3197A>C (p.Asp1066Ala)
c.448A>C
c.3203A>C (p.Asp1068Ala)
c.1328A>C (p.Asp443Ala)
6g.129297761A>GCA365611064LAMA2c.2933A>G (p.Asp978Gly)
c.3197A>G (p.Asp1066Gly)
c.448A>G
c.3203A>G (p.Asp1068Gly)
c.1328A>G (p.Asp443Gly)
6g.129297761A>TCA365611065LAMA2c.2933A>T (p.Asp978Val)
c.3197A>T (p.Asp1066Val)
c.448A>T
c.3203A>T (p.Asp1068Val)
c.1328A>T (p.Asp443Val)
6g.129297762C>ACA365611066LAMA2c.2934C>A (p.Asp978Glu)
c.3198C>A (p.Asp1066Glu)
c.449C>A
c.3204C>A (p.Asp1068Glu)
c.1329C>A (p.Asp443Glu)
6g.129297762C>GCA365611067LAMA2c.2934C>G (p.Asp978Glu)
c.3198C>G (p.Asp1066Glu)
c.449C>G
c.3204C>G (p.Asp1068Glu)
c.1329C>G (p.Asp443Glu)
6g.129297762C>TCA451936144LAMA2c.2934C>T (p.Asp978=)
c.3198C>T (p.Asp1066=)
c.449C>T
c.3204C>T (p.Asp1068=)
c.1329C>T (p.Asp443=)
 gnomAD v4
6g.129297763T>ACA365611068LAMA2c.2935T>A (p.Cys979Ser)
c.3199T>A (p.Cys1067Ser)
c.450T>A
c.3205T>A (p.Cys1069Ser)
c.1330T>A (p.Cys444Ser)
6g.129297763T>CCA365611069LAMA2c.2935T>C (p.Cys979Arg)
c.3199T>C (p.Cys1067Arg)
c.450T>C
c.3205T>C (p.Cys1069Arg)
c.1330T>C (p.Cys444Arg)
6g.129297763T>GCA365611070LAMA2c.2935T>G (p.Cys979Gly)
c.3199T>G (p.Cys1067Gly)
c.450T>G
c.3205T>G (p.Cys1069Gly)
c.1330T>G (p.Cys444Gly)
6g.129297765_129297766delCA2695198342LAMA2c.2937_2938del (p.Cys979Ter)
c.3201_3202del (p.Cys1067Ter)
c.452_453del
c.3207_3208del (p.Cys1069Ter)
c.1332_1333del (p.Cys444Ter)
 ClinVar
6g.129297764G>ACA365611071LAMA2c.2936G>A (p.Cys979Tyr)
c.3200G>A (p.Cys1067Tyr)
c.451G>A
c.3206G>A (p.Cys1069Tyr)
c.1331G>A (p.Cys444Tyr)
6g.129297764G>CCA365611072LAMA2c.2936G>C (p.Cys979Ser)
c.3200G>C (p.Cys1067Ser)
c.451G>C
c.3206G>C (p.Cys1069Ser)
c.1331G>C (p.Cys444Ser)
6g.129297764G>TCA365611073LAMA2c.2936G>T (p.Cys979Phe)
c.3200G>T (p.Cys1067Phe)
c.451G>T
c.3206G>T (p.Cys1069Phe)
c.1331G>T (p.Cys444Phe)
6g.129297765T>ACA365611075LAMA2c.2937T>A (p.Cys979Ter)
c.3201T>A (p.Cys1067Ter)
c.452T>A
c.3207T>A (p.Cys1069Ter)
c.1332T>A (p.Cys444Ter)
6g.129297765T>CCA451936145LAMA2c.2937T>C (p.Cys979=)
c.3201T>C (p.Cys1067=)
c.452T>C
c.3207T>C (p.Cys1069=)
c.1332T>C (p.Cys444=)
6g.129297765T>GCA365611074LAMA2c.2937T>G (p.Cys979Trp)
c.3201T>G (p.Cys1067Trp)
c.452T>G
c.3207T>G (p.Cys1069Trp)
c.1332T>G (p.Cys444Trp)
6g.129297766G>ACA365611076LAMA2c.2938G>A (p.Glu980Lys)
c.3202G>A (p.Glu1068Lys)
c.453G>A
c.3208G>A (p.Glu1070Lys)
c.1333G>A (p.Glu445Lys)
 gnomAD v4
6g.129297766G>CCA365611078LAMA2c.2938G>C (p.Glu980Gln)
c.3202G>C (p.Glu1068Gln)
c.453G>C
c.3208G>C (p.Glu1070Gln)
c.1333G>C (p.Glu445Gln)
6g.129297766G=CA1663102437LAMA2c.2938G= (p.Glu980=)
c.3202G= (p.Glu1068=)
c.453G=
c.3208G= (p.Glu1070=)
c.1333G= (p.Glu445=)
6g.129297766G>TCA365611077LAMA2c.2938G>T (p.Glu980Ter)
c.3202G>T (p.Glu1068Ter)
c.453G>T
c.3208G>T (p.Glu1070Ter)
c.1333G>T (p.Glu445Ter)
 dbSNP gnomAD v2 gnomAD v4
6g.129297767A>CCA365611079LAMA2c.2939A>C (p.Glu980Ala)
c.3203A>C (p.Glu1068Ala)
c.454A>C
c.3209A>C (p.Glu1070Ala)
c.1334A>C (p.Glu445Ala)
6g.129297767A>GCA365611080LAMA2c.2939A>G (p.Glu980Gly)
c.3203A>G (p.Glu1068Gly)
c.454A>G
c.3209A>G (p.Glu1070Gly)
c.1334A>G (p.Glu445Gly)
6g.129297767A>TCA365611081LAMA2c.2939A>T (p.Glu980Val)
c.3203A>T (p.Glu1068Val)
c.454A>T
c.3209A>T (p.Glu1070Val)
c.1334A>T (p.Glu445Val)
6g.129297768A>CCA365611082LAMA2c.2940A>C (p.Glu980Asp)
c.3204A>C (p.Glu1068Asp)
c.455A>C
c.3210A>C (p.Glu1070Asp)
c.1335A>C (p.Glu445Asp)
6g.129297768A>GCA451936146LAMA2c.2940A>G (p.Glu980=)
c.3204A>G (p.Glu1068=)
c.455A>G
c.3210A>G (p.Glu1070=)
c.1335A>G (p.Glu445=)
6g.129297768A>TCA365611083LAMA2c.2940A>T (p.Glu980Asp)
c.3204A>T (p.Glu1068Asp)
c.455A>T
c.3210A>T (p.Glu1070Asp)
c.1335A>T (p.Glu445Asp)
6g.129297769G>ACA365611084LAMA2c.2941G>A (p.Glu981Lys)
c.3205G>A (p.Glu1069Lys)
c.456G>A
c.3211G>A (p.Glu1071Lys)
c.1336G>A (p.Glu446Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.129297769G>CCA365611085LAMA2c.2941G>C (p.Glu981Gln)
c.3205G>C (p.Glu1069Gln)
c.456G>C
c.3211G>C (p.Glu1071Gln)
c.1336G>C (p.Glu446Gln)
6g.129297769G=CA1663102441LAMA2c.2941G= (p.Glu981=)
c.3205G= (p.Glu1069=)
c.456G=
c.3211G= (p.Glu1071=)
c.1336G= (p.Glu446=)
6g.129297769G>TCA365611086LAMA2c.2941G>T (p.Glu981Ter)
c.3205G>T (p.Glu1069Ter)
c.456G>T
c.3211G>T (p.Glu1071Ter)
c.1336G>T (p.Glu446Ter)
6g.129297770A=CA1663102444LAMA2c.2942A= (p.Glu981=)
c.3206A= (p.Glu1069=)
c.457A=
c.3212A= (p.Glu1071=)
c.1337A= (p.Glu446=)
6g.129297770A>CCA3993113LAMA2c.2942A>C (p.Glu981Ala)
c.3206A>C (p.Glu1069Ala)
c.457A>C
c.3212A>C (p.Glu1071Ala)
c.1337A>C (p.Glu446Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129297770A>GCA365611087LAMA2c.2942A>G (p.Glu981Gly)
c.3206A>G (p.Glu1069Gly)
c.457A>G
c.3212A>G (p.Glu1071Gly)
c.1337A>G (p.Glu446Gly)
6g.129297770A>TCA365611088LAMA2c.2942A>T (p.Glu981Val)
c.3206A>T (p.Glu1069Val)
c.457A>T
c.3212A>T (p.Glu1071Val)
c.1337A>T (p.Glu446Val)
6g.129297771G>ACA451936147LAMA2c.2943G>A (p.Glu981=)
c.3207G>A (p.Glu1069=)
c.458G>A
c.3213G>A (p.Glu1071=)
c.1338G>A (p.Glu446=)
6g.129297771G>CCA3993114LAMA2c.2943G>C (p.Glu981Asp)
c.3207G>C (p.Glu1069Asp)
c.458G>C
c.3213G>C (p.Glu1071Asp)
c.1338G>C (p.Glu446Asp)
 dbSNP ExAC gnomAD v2
6g.129297771G=CA1663102449LAMA2c.2943G= (p.Glu981=)
c.3207G= (p.Glu1069=)
c.458G=
c.3213G= (p.Glu1071=)
c.1338G= (p.Glu446=)
6g.129297771G>TCA365611089LAMA2c.2943G>T (p.Glu981Asp)
c.3207G>T (p.Glu1069Asp)
c.458G>T
c.3213G>T (p.Glu1071Asp)
c.1338G>T (p.Glu446Asp)
6g.129297772A=CA1663102467LAMA2c.2944A= (p.Ser982=)
c.3208A= (p.Ser1070=)
c.459A=
c.3214A= (p.Ser1072=)
c.1339A= (p.Ser447=)
6g.129297772A>CCA365611090LAMA2c.2944A>C (p.Ser982Arg)
c.3208A>C (p.Ser1070Arg)
c.459A>C
c.3214A>C (p.Ser1072Arg)
c.1339A>C (p.Ser447Arg)
6g.129297772A>GCA365611092LAMA2c.2944A>G (p.Ser982Gly)
c.3208A>G (p.Ser1070Gly)
c.459A>G
c.3214A>G (p.Ser1072Gly)
c.1339A>G (p.Ser447Gly)
6g.129297772A>TCA365611091LAMA2c.2944A>T (p.Ser982Cys)
c.3208A>T (p.Ser1070Cys)
c.459A>T
c.3214A>T (p.Ser1072Cys)
c.1339A>T (p.Ser447Cys)
6g.129297773G>ACA3993115LAMA2c.2945G>A (p.Ser982Asn)
c.3209G>A (p.Ser1070Asn)
c.460G>A
c.3215G>A (p.Ser1072Asn)
c.1340G>A (p.Ser447Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129297773G>CCA365611093LAMA2c.2945G>C (p.Ser982Thr)
c.3209G>C (p.Ser1070Thr)
c.460G>C
c.3215G>C (p.Ser1072Thr)
c.1340G>C (p.Ser447Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129297773G=CA1663102471LAMA2c.2945G= (p.Ser982=)
c.3209G= (p.Ser1070=)
c.460G=
c.3215G= (p.Ser1072=)
c.1340G= (p.Ser447=)
6g.129297773G>TCA365611094LAMA2c.2945G>T (p.Ser982Ile)
c.3209G>T (p.Ser1070Ile)
c.460G>T
c.3215G>T (p.Ser1072Ile)
c.1340G>T (p.Ser447Ile)
6g.129297773dupCA570205593LAMA2c.2945dup (p.Ser982ArgfsTer16)
c.3209dup (p.Ser1070ArgfsTer16)
c.460dup
c.3215dup (p.Ser1072ArgfsTer16)
c.1340dup (p.Ser447ArgfsTer16)
 dbSNP gnomAD v2 gnomAD v4
6g.129297774T>ACA365611095LAMA2c.2946T>A (p.Ser982Arg)
c.3210T>A (p.Ser1070Arg)
c.461T>A
c.3216T>A (p.Ser1072Arg)
c.1341T>A (p.Ser447Arg)
6g.129297774T>CCA451936148LAMA2c.2946T>C (p.Ser982=)
c.3210T>C (p.Ser1070=)
c.461T>C
c.3216T>C (p.Ser1072=)
c.1341T>C (p.Ser447=)
6g.129297774T>GCA365611096LAMA2c.2946T>G (p.Ser982Arg)
c.3210T>G (p.Ser1070Arg)
c.461T>G
c.3216T>G (p.Ser1072Arg)
c.1341T>G (p.Ser447Arg)
6g.129297775G>ACA365611097LAMA2c.2947G>A (p.Gly983Arg)
c.3211G>A (p.Gly1071Arg)
c.462G>A
c.3217G>A (p.Gly1073Arg)
c.1342G>A (p.Gly448Arg)
 COSMIC
6g.129297775G>CCA365611098LAMA2c.2947G>C (p.Gly983Arg)
c.3211G>C (p.Gly1071Arg)
c.462G>C
c.3217G>C (p.Gly1073Arg)
c.1342G>C (p.Gly448Arg)
6g.129297775G>TCA365611099LAMA2c.2947G>T (p.Gly983Ter)
c.3211G>T (p.Gly1071Ter)
c.462G>T
c.3217G>T (p.Gly1073Ter)
c.1342G>T (p.Gly448Ter)
6g.129297775_129297777dupCA2680313390LAMA2c.2947_2949dup (p.Gly983_Gln984insGly)
c.3211_3213dup (p.Gly1071_Gln1072insGly)
c.462_464dup
c.3217_3219dup (p.Gly1073_Gln1074insGly)
c.1342_1344dup (p.Gly448_Gln449insGly)
 gnomAD v4
6g.129297776G>ACA365611100LAMA2c.2948G>A (p.Gly983Glu)
c.3212G>A (p.Gly1071Glu)
c.463G>A
c.3218G>A (p.Gly1073Glu)
c.1343G>A (p.Gly448Glu)
 dbSNP
6g.129297776G>CCA365611101LAMA2c.2948G>C (p.Gly983Ala)
c.3212G>C (p.Gly1071Ala)
c.463G>C
c.3218G>C (p.Gly1073Ala)
c.1343G>C (p.Gly448Ala)
6g.129297776G=CA1663102475LAMA2c.2948G= (p.Gly983=)
c.3212G= (p.Gly1071=)
c.463G=
c.3218G= (p.Gly1073=)
c.1343G= (p.Gly448=)
6g.129297776G>TCA365611102LAMA2c.2948G>T (p.Gly983Val)
c.3212G>T (p.Gly1071Val)
c.463G>T
c.3218G>T (p.Gly1073Val)
c.1343G>T (p.Gly448Val)
6g.129297777A>CCA451936149LAMA2c.2949A>C (p.Gly983=)
c.3213A>C (p.Gly1071=)
c.464A>C
c.3219A>C (p.Gly1073=)
c.1344A>C (p.Gly448=)
6g.129297777A>GCA451936150LAMA2c.2949A>G (p.Gly983=)
c.3213A>G (p.Gly1071=)
c.464A>G
c.3219A>G (p.Gly1073=)
c.1344A>G (p.Gly448=)
 dbSNP
6g.129297777A>TCA451936151LAMA2c.2949A>T (p.Gly983=)
c.3213A>T (p.Gly1071=)
c.464A>T
c.3219A>T (p.Gly1073=)
c.1344A>T (p.Gly448=)
6g.129297778C>ACA365611105LAMA2c.2950C>A (p.Gln984Lys)
c.3214C>A (p.Gln1072Lys)
c.465C>A
c.3220C>A (p.Gln1074Lys)
c.1345C>A (p.Gln449Lys)
6g.129297778C=CA1663102481LAMA2c.2950C= (p.Gln984=)
c.3214C= (p.Gln1072=)
c.465C=
c.3220C= (p.Gln1074=)
c.1345C= (p.Gln449=)
6g.129297778C>GCA365611104LAMA2c.2950C>G (p.Gln984Glu)
c.3214C>G (p.Gln1072Glu)
c.465C>G
c.3220C>G (p.Gln1074Glu)
c.1345C>G (p.Gln449Glu)
6g.129297778C>TCA365611103LAMA2c.2950C>T (p.Gln984Ter)
c.3214C>T (p.Gln1072Ter)
c.465C>T
c.3220C>T (p.Gln1074Ter)
c.1345C>T (p.Gln449Ter)
 ClinVar dbSNP
6g.129297778_129297779insTCA2530597426LAMA2c.2950_2951insT (p.Gln984LeufsTer14)
c.3214_3215insT (p.Gln1072LeufsTer14)
c.465_466insT
c.3220_3221insT (p.Gln1074LeufsTer14)
c.1345_1346insT (p.Gln449LeufsTer14)
6g.129297779A>CCA365611108LAMA2c.2951A>C (p.Gln984Pro)
c.3215A>C (p.Gln1072Pro)
c.466A>C
c.3221A>C (p.Gln1074Pro)
c.1346A>C (p.Gln449Pro)
6g.129297779A>GCA365611106LAMA2c.2951A>G (p.Gln984Arg)
c.3215A>G (p.Gln1072Arg)
c.466A>G
c.3221A>G (p.Gln1074Arg)
c.1346A>G (p.Gln449Arg)
 ClinVar gnomAD v4
6g.129297779A>TCA365611107LAMA2c.2951A>T (p.Gln984Leu)
c.3215A>T (p.Gln1072Leu)
c.466A>T
c.3221A>T (p.Gln1074Leu)
c.1346A>T (p.Gln449Leu)
6g.129297780A>CCA365611109LAMA2c.2952A>C (p.Gln984His)
c.3216A>C (p.Gln1072His)
c.467A>C
c.3222A>C (p.Gln1074His)
c.1347A>C (p.Gln449His)
6g.129297780A>GCA451936152LAMA2c.2952A>G (p.Gln984=)
c.3216A>G (p.Gln1072=)
c.467A>G
c.3222A>G (p.Gln1074=)
c.1347A>G (p.Gln449=)
 ClinVar dbSNP gnomAD v4
6g.129297780A>TCA365611110LAMA2c.2952A>T (p.Gln984His)
c.3216A>T (p.Gln1072His)
c.467A>T
c.3222A>T (p.Gln1074His)
c.1347A>T (p.Gln449His)
6g.129297781T>ACA365611111LAMA2c.2953T>A (p.Cys985Ser)
c.3217T>A (p.Cys1073Ser)
c.468T>A
c.3223T>A (p.Cys1075Ser)
c.1348T>A (p.Cys450Ser)
6g.129297781T>CCA365611112LAMA2c.2953T>C (p.Cys985Arg)
c.3217T>C (p.Cys1073Arg)
c.468T>C
c.3223T>C (p.Cys1075Arg)
c.1348T>C (p.Cys450Arg)
6g.129297781T>GCA365611113LAMA2c.2953T>G (p.Cys985Gly)
c.3217T>G (p.Cys1073Gly)
c.468T>G
c.3223T>G (p.Cys1075Gly)
c.1348T>G (p.Cys450Gly)
6g.129297782G>ACA365611114LAMA2c.2954G>A (p.Cys985Tyr)
c.3218G>A (p.Cys1073Tyr)
c.469G>A
c.3224G>A (p.Cys1075Tyr)
c.1349G>A (p.Cys450Tyr)
6g.129297782G>CCA365611115LAMA2c.2954G>C (p.Cys985Ser)
c.3218G>C (p.Cys1073Ser)
c.469G>C
c.3224G>C (p.Cys1075Ser)
c.1349G>C (p.Cys450Ser)
6g.129297782G=CA1663102492LAMA2c.2954G= (p.Cys985=)
c.3218G= (p.Cys1073=)
c.469G=
c.3224G= (p.Cys1075=)
c.1349G= (p.Cys450=)
6g.129297782G>TCA3993116LAMA2c.2954G>T (p.Cys985Phe)
c.3218G>T (p.Cys1073Phe)
c.469G>T
c.3224G>T (p.Cys1075Phe)
c.1349G>T (p.Cys450Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129297783T>ACA365611116LAMA2c.2955T>A (p.Cys985Ter)
c.3219T>A (p.Cys1073Ter)
c.470T>A
c.3225T>A (p.Cys1075Ter)
c.1350T>A (p.Cys450Ter)
 gnomAD v4
6g.129297783T>CCA451936153LAMA2c.2955T>C (p.Cys985=)
c.3219T>C (p.Cys1073=)
c.470T>C
c.3225T>C (p.Cys1075=)
c.1350T>C (p.Cys450=)
6g.129297783T>GCA365611117LAMA2c.2955T>G (p.Cys985Trp)
c.3219T>G (p.Cys1073Trp)
c.470T>G
c.3225T>G (p.Cys1075Trp)
c.1350T>G (p.Cys450Trp)
6g.129297784T>ACA365611119LAMA2c.2956T>A (p.Trp986Arg)
c.3220T>A (p.Trp1074Arg)
c.471T>A
c.3226T>A (p.Trp1076Arg)
c.1351T>A (p.Trp451Arg)
6g.129297784T>CCA365611120LAMA2c.2956T>C (p.Trp986Arg)
c.3220T>C (p.Trp1074Arg)
c.471T>C
c.3226T>C (p.Trp1076Arg)
c.1351T>C (p.Trp451Arg)
6g.129297784T>GCA365611118LAMA2c.2956T>G (p.Trp986Gly)
c.3220T>G (p.Trp1074Gly)
c.471T>G
c.3226T>G (p.Trp1076Gly)
c.1351T>G (p.Trp451Gly)
6g.129297786_129297788dupCA451936154LAMA2c.2958_2960dup (p.Trp986_Cys987insTrp)
c.3222_3224dup (p.Trp1074_Cys1075insTrp)
c.473_475dup
c.3228_3230dup (p.Trp1076_Cys1077insTrp)
c.1353_1355dup (p.Trp451_Cys452insTrp)
 gnomAD v4
6g.129297785G>ACA365611121LAMA2c.2957G>A (p.Trp986Ter)
c.3221G>A (p.Trp1074Ter)
c.472G>A
c.3227G>A (p.Trp1076Ter)
c.1352G>A (p.Trp451Ter)
 ClinVar dbSNP
6g.129297785G>CCA365611122LAMA2c.2957G>C (p.Trp986Ser)
c.3221G>C (p.Trp1074Ser)
c.472G>C
c.3227G>C (p.Trp1076Ser)
c.1352G>C (p.Trp451Ser)
6g.129297785G=CA1663102496LAMA2c.2957G= (p.Trp986=)
c.3221G= (p.Trp1074=)
c.472G=
c.3227G= (p.Trp1076=)
c.1352G= (p.Trp451=)
6g.129297785G>TCA365611123LAMA2c.2957G>T (p.Trp986Leu)
c.3221G>T (p.Trp1074Leu)
c.472G>T
c.3227G>T (p.Trp1076Leu)
c.1352G>T (p.Trp451Leu)
 dbSNP COSMIC
6g.129297786G>ACA365611124LAMA2c.2958G>A (p.Trp986Ter)
c.3222G>A (p.Trp1074Ter)
c.473G>A
c.3228G>A (p.Trp1076Ter)
c.1353G>A (p.Trp451Ter)
 COSMIC
6g.129297786G>CCA365611125LAMA2c.2958G>C (p.Trp986Cys)
c.3222G>C (p.Trp1074Cys)
c.473G>C
c.3228G>C (p.Trp1076Cys)
c.1353G>C (p.Trp451Cys)
6g.129297786G=CA1663102506LAMA2c.2958G= (p.Trp986=)
c.3222G= (p.Trp1074=)
c.473G=
c.3228G= (p.Trp1076=)
c.1353G= (p.Trp451=)
6g.129297786G>TCA365611126LAMA2c.2958G>T (p.Trp986Cys)
c.3222G>T (p.Trp1074Cys)
c.473G>T
c.3228G>T (p.Trp1076Cys)
c.1353G>T (p.Trp451Cys)
 dbSNP gnomAD v4
6g.129297787T>ACA365611127LAMA2c.2959T>A (p.Cys987Ser)
c.3223T>A (p.Cys1075Ser)
c.474T>A
c.3229T>A (p.Cys1077Ser)
c.1354T>A (p.Cys452Ser)
6g.129297787T>CCA365611129LAMA2c.2959T>C (p.Cys987Arg)
c.3223T>C (p.Cys1075Arg)
c.474T>C
c.3229T>C (p.Cys1077Arg)
c.1354T>C (p.Cys452Arg)
6g.129297787T>GCA365611128LAMA2c.2959T>G (p.Cys987Gly)
c.3223T>G (p.Cys1075Gly)
c.474T>G
c.3229T>G (p.Cys1077Gly)
c.1354T>G (p.Cys452Gly)
6g.129297787dupCA2695206980LAMA2c.2959dup (p.Cys987LeufsTer11)
c.3223dup (p.Cys1075LeufsTer11)
c.474dup
c.3229dup (p.Cys1077LeufsTer11)
c.1354dup (p.Cys452LeufsTer11)
6g.129297788G>ACA365611130LAMA2c.2960G>A (p.Cys987Tyr)
c.3224G>A (p.Cys1075Tyr)
c.475G>A
c.3230G>A (p.Cys1077Tyr)
c.1355G>A (p.Cys452Tyr)
6g.129297788G>CCA365611131LAMA2c.2960G>C (p.Cys987Ser)
c.3224G>C (p.Cys1075Ser)
c.475G>C
c.3230G>C (p.Cys1077Ser)
c.1355G>C (p.Cys452Ser)
6g.129297788G>TCA365611132LAMA2c.2960G>T (p.Cys987Phe)
c.3224G>T (p.Cys1075Phe)
c.475G>T
c.3230G>T (p.Cys1077Phe)
c.1355G>T (p.Cys452Phe)
6g.129297789C>ACA365611133LAMA2c.2961C>A (p.Cys987Ter)
c.3225C>A (p.Cys1075Ter)
c.476C>A
c.3231C>A (p.Cys1077Ter)
c.1356C>A (p.Cys452Ter)
6g.129297789C=CA1663102517LAMA2c.2961C= (p.Cys987=)
c.3225C= (p.Cys1075=)
c.476C=
c.3231C= (p.Cys1077=)
c.1356C= (p.Cys452=)
6g.129297789C>GCA365611134LAMA2c.2961C>G (p.Cys987Trp)
c.3225C>G (p.Cys1075Trp)
c.476C>G
c.3231C>G (p.Cys1077Trp)
c.1356C>G (p.Cys452Trp)
 gnomAD v4
6g.129297789C>TCA451936155LAMA2c.2961C>T (p.Cys987=)
c.3225C>T (p.Cys1075=)
c.476C>T
c.3231C>T (p.Cys1077=)
c.1356C>T (p.Cys452=)
 ClinVar dbSNP
6g.129297790C>ACA365611135LAMA2c.2962C>A (p.Gln988Lys)
c.3226C>A (p.Gln1076Lys)
c.477C>A
c.3232C>A (p.Gln1078Lys)
c.1357C>A (p.Gln453Lys)
6g.129297790C=CA1663102527LAMA2c.2962C= (p.Gln988=)
c.3226C= (p.Gln1076=)
c.477C=
c.3232C= (p.Gln1078=)
c.1357C= (p.Gln453=)
6g.129297790C>GCA365611136LAMA2c.2962C>G (p.Gln988Glu)
c.3226C>G (p.Gln1076Glu)
c.477C>G
c.3232C>G (p.Gln1078Glu)
c.1357C>G (p.Gln453Glu)
6g.129297790C>TCA220758LAMA2c.2962C>T (p.Gln988Ter)
c.3226C>T (p.Gln1076Ter)
c.477C>T
c.3232C>T (p.Gln1078Ter)
c.1357C>T (p.Gln453Ter)
 ClinVar dbSNP gnomAD v4
6g.129297791A>CCA365611137LAMA2c.2963A>C (p.Gln988Pro)
c.3227A>C (p.Gln1076Pro)
c.478A>C
c.3233A>C (p.Gln1078Pro)
c.1358A>C (p.Gln453Pro)
6g.129297791A>GCA365611139LAMA2c.2963A>G (p.Gln988Arg)
c.3227A>G (p.Gln1076Arg)
c.478A>G
c.3233A>G (p.Gln1078Arg)
c.1358A>G (p.Gln453Arg)
6g.129297791A>TCA365611138LAMA2c.2963A>T (p.Gln988Leu)
c.3227A>T (p.Gln1076Leu)
c.478A>T
c.3233A>T (p.Gln1078Leu)
c.1358A>T (p.Gln453Leu)
6g.129297792A=CA1663102530LAMA2c.2964A= (p.Gln988=)
c.3228A= (p.Gln1076=)
c.479A=
c.3234A= (p.Gln1078=)
c.1359A= (p.Gln453=)
6g.129297792A>CCA365611140LAMA2c.2964A>C (p.Gln988His)
c.3228A>C (p.Gln1076His)
c.479A>C
c.3234A>C (p.Gln1078His)
c.1359A>C (p.Gln453His)
6g.129297792A>GCA451936156LAMA2c.2964A>G (p.Gln988=)
c.3228A>G (p.Gln1076=)
c.479A>G
c.3234A>G (p.Gln1078=)
c.1359A>G (p.Gln453=)
 ClinVar dbSNP
6g.129297792A>TCA365611141LAMA2c.2964A>T (p.Gln988His)
c.3228A>T (p.Gln1076His)
c.479A>T
c.3234A>T (p.Gln1078His)
c.1359A>T (p.Gln453His)
6g.129297793C>ACA365611142LAMA2c.2965C>A (p.Pro989Thr)
c.3229C>A (p.Pro1077Thr)
c.480C>A
c.3235C>A (p.Pro1079Thr)
c.1360C>A (p.Pro454Thr)
 gnomAD v4
6g.129297793C=CA1663102533LAMA2c.2965C= (p.Pro989=)
c.3229C= (p.Pro1077=)
c.480C=
c.3235C= (p.Pro1079=)
c.1360C= (p.Pro454=)
6g.129297793C>GCA365611143LAMA2c.2965C>G (p.Pro989Ala)
c.3229C>G (p.Pro1077Ala)
c.480C>G
c.3235C>G (p.Pro1079Ala)
c.1360C>G (p.Pro454Ala)
6g.129297793C>TCA3993117LAMA2c.2965C>T (p.Pro989Ser)
c.3229C>T (p.Pro1077Ser)
c.480C>T
c.3235C>T (p.Pro1079Ser)
c.1360C>T (p.Pro454Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129297794C>ACA365611144LAMA2c.2966C>A (p.Pro989His)
c.3230C>A (p.Pro1077His)
c.481C>A
c.3236C>A (p.Pro1079His)
c.1361C>A (p.Pro454His)
 COSMIC
6g.129297794C>GCA365611145LAMA2c.2966C>G (p.Pro989Arg)
c.3230C>G (p.Pro1077Arg)
c.481C>G
c.3236C>G (p.Pro1079Arg)
c.1361C>G (p.Pro454Arg)
 gnomAD v4
6g.129297794C>TCA365611146LAMA2c.2966C>T (p.Pro989Leu)
c.3230C>T (p.Pro1077Leu)
c.481C>T
c.3236C>T (p.Pro1079Leu)
c.1361C>T (p.Pro454Leu)
 gnomAD v4
6g.129297795T>ACA451936157LAMA2c.2967T>A (p.Pro989=)
c.3231T>A (p.Pro1077=)
c.482T>A
c.3237T>A (p.Pro1079=)
c.1362T>A (p.Pro454=)
 COSMIC
6g.129297795T>CCA451936159LAMA2c.2967T>C (p.Pro989=)
c.3231T>C (p.Pro1077=)
c.482T>C
c.3237T>C (p.Pro1079=)
c.1362T>C (p.Pro454=)
6g.129297795T>GCA451936158LAMA2c.2967T>G (p.Pro989=)
c.3231T>G (p.Pro1077=)
c.482T>G
c.3237T>G (p.Pro1079=)
c.1362T>G (p.Pro454=)
6g.129297796G>ACA365611147LAMA2c.2968G>A (p.Gly990Arg)
c.3232G>A (p.Gly1078Arg)
c.483G>A
c.3238G>A (p.Gly1080Arg)
c.1363G>A (p.Gly455Arg)
6g.129297796G>CCA365611148LAMA2c.2968G>C (p.Gly990Arg)
c.3232G>C (p.Gly1078Arg)
c.483G>C
c.3238G>C (p.Gly1080Arg)
c.1363G>C (p.Gly455Arg)
 ClinVar dbSNP gnomAD v4
6g.129297796G=CA1663102538LAMA2c.2968G= (p.Gly990=)
c.3232G= (p.Gly1078=)
c.483G=
c.3238G= (p.Gly1080=)
c.1363G= (p.Gly455=)
6g.129297796G>TCA365611149LAMA2c.2968G>T (p.Gly990Ter)
c.3232G>T (p.Gly1078Ter)
c.483G>T
c.3238G>T (p.Gly1080Ter)
c.1363G>T (p.Gly455Ter)
 ClinVar dbSNP
6g.129297797G>ACA365611152LAMA2c.2969G>A (p.Gly990Glu)
c.3233G>A (p.Gly1078Glu)
c.484G>A
c.3239G>A (p.Gly1080Glu)
c.1364G>A (p.Gly455Glu)
 gnomAD v4
6g.129297797G>CCA365611151LAMA2c.2969G>C (p.Gly990Ala)
c.3233G>C (p.Gly1078Ala)
c.484G>C
c.3239G>C (p.Gly1080Ala)
c.1364G>C (p.Gly455Ala)
 gnomAD v4
6g.129297797G>TCA365611150LAMA2c.2969G>T (p.Gly990Val)
c.3233G>T (p.Gly1078Val)
c.484G>T
c.3239G>T (p.Gly1080Val)
c.1364G>T (p.Gly455Val)
 gnomAD v4
6g.129297798A>CCA451936160LAMA2c.2970A>C (p.Gly990=)
c.3234A>C (p.Gly1078=)
c.485A>C
c.3240A>C (p.Gly1080=)
c.1365A>C (p.Gly455=)
6g.129297798A>GCA451936161LAMA2c.2970A>G (p.Gly990=)
c.3234A>G (p.Gly1078=)
c.485A>G
c.3240A>G (p.Gly1080=)
c.1365A>G (p.Gly455=)
6g.129297798A>TCA451936162LAMA2c.2970A>T (p.Gly990=)
c.3234A>T (p.Gly1078=)
c.485A>T
c.3240A>T (p.Gly1080=)
c.1365A>T (p.Gly455=)
6g.129297799G>ACA365611153LAMA2c.2971G>A (p.Val991Ile)
c.3235G>A (p.Val1079Ile)
c.486G>A
c.3241G>A (p.Val1081Ile)
c.1366G>A (p.Val456Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129297799G>CCA365611154LAMA2c.2971G>C (p.Val991Leu)
c.3235G>C (p.Val1079Leu)
c.486G>C
c.3241G>C (p.Val1081Leu)
c.1366G>C (p.Val456Leu)
 gnomAD v4
6g.129297799G=CA1663102543LAMA2c.2971G= (p.Val991=)
c.3235G= (p.Val1079=)
c.486G=
c.3241G= (p.Val1081=)
c.1366G= (p.Val456=)
6g.129297799G>TCA365611155LAMA2c.2971G>T (p.Val991Phe)
c.3235G>T (p.Val1079Phe)
c.486G>T
c.3241G>T (p.Val1081Phe)
c.1366G>T (p.Val456Phe)
6g.129297800T>ACA365611156LAMA2c.2972T>A (p.Val991Asp)
c.3236T>A (p.Val1079Asp)
c.487T>A
c.3242T>A (p.Val1081Asp)
c.1367T>A (p.Val456Asp)
6g.129297800T>CCA365611157LAMA2c.2972T>C (p.Val991Ala)
c.3236T>C (p.Val1079Ala)
c.487T>C
c.3242T>C (p.Val1081Ala)
c.1367T>C (p.Val456Ala)
 gnomAD v4
6g.129297800T>GCA365611158LAMA2c.2972T>G (p.Val991Gly)
c.3236T>G (p.Val1079Gly)
c.487T>G
c.3242T>G (p.Val1081Gly)
c.1367T>G (p.Val456Gly)
6g.129297801C>ACA451936163LAMA2c.2973C>A (p.Val991=)
c.3237C>A (p.Val1079=)
c.488C>A
c.3243C>A (p.Val1081=)
c.1368C>A (p.Val456=)
6g.129297801C>GCA451936164LAMA2c.2973C>G (p.Val991=)
c.3237C>G (p.Val1079=)
c.488C>G
c.3243C>G (p.Val1081=)
c.1368C>G (p.Val456=)
6g.129297801C>TCA451936165LAMA2c.2973C>T (p.Val991=)
c.3237C>T (p.Val1079=)
c.488C>T
c.3243C>T (p.Val1081=)
c.1368C>T (p.Val456=)
 gnomAD v4
6g.129297802A>CCA365611159LAMA2c.2974A>C (p.Thr992Pro)
c.3238A>C (p.Thr1080Pro)
c.489A>C
c.3244A>C (p.Thr1082Pro)
c.1369A>C (p.Thr457Pro)
6g.129297802A>GCA365611160LAMA2c.2974A>G (p.Thr992Ala)
c.3238A>G (p.Thr1080Ala)
c.489A>G
c.3244A>G (p.Thr1082Ala)
c.1369A>G (p.Thr457Ala)
6g.129297802A>TCA365611161LAMA2c.2974A>T (p.Thr992Ser)
c.3238A>T (p.Thr1080Ser)
c.489A>T
c.3244A>T (p.Thr1082Ser)
c.1369A>T (p.Thr457Ser)
6g.129297803C>ACA365611162LAMA2c.2975C>A (p.Thr992Lys)
c.3239C>A (p.Thr1080Lys)
c.490C>A
c.3245C>A (p.Thr1082Lys)
c.1370C>A (p.Thr457Lys)
6g.129297803C>GCA365611163LAMA2c.2975C>G (p.Thr992Arg)
c.3239C>G (p.Thr1080Arg)
c.490C>G
c.3245C>G (p.Thr1082Arg)
c.1370C>G (p.Thr457Arg)
6g.129297803C>TCA365611164LAMA2c.2975C>T (p.Thr992Ile)
c.3239C>T (p.Thr1080Ile)
c.490C>T
c.3245C>T (p.Thr1082Ile)
c.1370C>T (p.Thr457Ile)
6g.129297804A>CCA451936168LAMA2c.2976A>C (p.Thr992=)
c.3240A>C (p.Thr1080=)
c.491A>C
c.3246A>C (p.Thr1082=)
c.1371A>C (p.Thr457=)
6g.129297804A>GCA451936166LAMA2c.2976A>G (p.Thr992=)
c.3240A>G (p.Thr1080=)
c.491A>G
c.3246A>G (p.Thr1082=)
c.1371A>G (p.Thr457=)
 ClinVar dbSNP
6g.129297804A>TCA451936167LAMA2c.2976A>T (p.Thr992=)
c.3240A>T (p.Thr1080=)
c.491A>T
c.3246A>T (p.Thr1082=)
c.1371A>T (p.Thr457=)
6g.129297805G>ACA365611167LAMA2c.2977G>A (p.Gly993Arg)
c.3241G>A (p.Gly1081Arg)
c.492G>A
c.3247G>A (p.Gly1083Arg)
c.1372G>A (p.Gly458Arg)
6g.129297805G>CCA365611166LAMA2c.2977G>C (p.Gly993Arg)
c.3241G>C (p.Gly1081Arg)
c.492G>C
c.3247G>C (p.Gly1083Arg)
c.1372G>C (p.Gly458Arg)
6g.129297805G>TCA365611165LAMA2c.2977G>T (p.Gly993Trp)
c.3241G>T (p.Gly1081Trp)
c.492G>T
c.3247G>T (p.Gly1083Trp)
c.1372G>T (p.Gly458Trp)
6g.129297806G>ACA146900643LAMA2c.2978G>A (p.Gly993Glu)
c.3242G>A (p.Gly1081Glu)
c.493G>A
c.3248G>A (p.Gly1083Glu)
c.1373G>A (p.Gly458Glu)
 dbSNP
6g.129297806G>CCA365611168LAMA2c.2978G>C (p.Gly993Ala)
c.3242G>C (p.Gly1081Ala)
c.493G>C
c.3248G>C (p.Gly1083Ala)
c.1373G>C (p.Gly458Ala)
6g.129297806G=CA1663102548LAMA2c.2978G= (p.Gly993=)
c.3242G= (p.Gly1081=)
c.493G=
c.3248G= (p.Gly1083=)
c.1373G= (p.Gly458=)
6g.129297806G>TCA365611169LAMA2c.2978G>T (p.Gly993Val)
c.3242G>T (p.Gly1081Val)
c.493G>T
c.3248G>T (p.Gly1083Val)
c.1373G>T (p.Gly458Val)
6g.129297807G>ACA451936169LAMA2c.2979G>A (p.Gly993=)
c.3243G>A (p.Gly1081=)
c.494G>A
c.3249G>A (p.Gly1083=)
c.1374G>A (p.Gly458=)
6g.129297807G>CCA451936170LAMA2c.2979G>C (p.Gly993=)
c.3243G>C (p.Gly1081=)
c.494G>C
c.3249G>C (p.Gly1083=)
c.1374G>C (p.Gly458=)
6g.129297807G>TCA451936171LAMA2c.2979G>T (p.Gly993=)
c.3243G>T (p.Gly1081=)
c.494G>T
c.3249G>T (p.Gly1083=)
c.1374G>T (p.Gly458=)
6g.129297808A>CCA365611170LAMA2c.2980A>C (p.Lys994Gln)
c.3244A>C (p.Lys1082Gln)
c.495A>C
c.3250A>C (p.Lys1084Gln)
c.1375A>C (p.Lys459Gln)
6g.129297808A>GCA365611171LAMA2c.2980A>G (p.Lys994Glu)
c.3244A>G (p.Lys1082Glu)
c.495A>G
c.3250A>G (p.Lys1084Glu)
c.1375A>G (p.Lys459Glu)
6g.129297808A>TCA365611172LAMA2c.2980A>T (p.Lys994Ter)
c.3244A>T (p.Lys1082Ter)
c.495A>T
c.3250A>T (p.Lys1084Ter)
c.1375A>T (p.Lys459Ter)
6g.129297809A>CCA365611175LAMA2c.2981A>C (p.Lys994Thr)
c.3245A>C (p.Lys1082Thr)
c.496A>C
c.3251A>C (p.Lys1084Thr)
c.1376A>C (p.Lys459Thr)
6g.129297809A>GCA365611173LAMA2c.2981A>G (p.Lys994Arg)
c.3245A>G (p.Lys1082Arg)
c.496A>G
c.3251A>G (p.Lys1084Arg)
c.1376A>G (p.Lys459Arg)
6g.129297809A>TCA365611174LAMA2c.2981A>T (p.Lys994Met)
c.3245A>T (p.Lys1082Met)
c.496A>T
c.3251A>T (p.Lys1084Met)
c.1376A>T (p.Lys459Met)
6g.129297810G>ACA451936172LAMA2c.2982G>A (p.Lys994=)
c.3246G>A (p.Lys1082=)
c.497G>A
c.3252G>A (p.Lys1084=)
c.1377G>A (p.Lys459=)
6g.129297810G>CCA365611176LAMA2c.2982G>C (p.Lys994Asn)
c.3246G>C (p.Lys1082Asn)
c.497G>C
c.3252G>C (p.Lys1084Asn)
c.1377G>C (p.Lys459Asn)
6g.129297810G>TCA365611177LAMA2c.2982G>T (p.Lys994Asn)
c.3246G>T (p.Lys1082Asn)
c.497G>T
c.3252G>T (p.Lys1084Asn)
c.1377G>T (p.Lys459Asn)
6g.129297811A>CCA365611178LAMA2c.2983A>C (p.Lys995Gln)
c.3247A>C (p.Lys1083Gln)
c.498A>C
c.3253A>C (p.Lys1085Gln)
c.1378A>C (p.Lys460Gln)
6g.129297811A>GCA365611179LAMA2c.2983A>G (p.Lys995Glu)
c.3247A>G (p.Lys1083Glu)
c.498A>G
c.3253A>G (p.Lys1085Glu)
c.1378A>G (p.Lys460Glu)
6g.129297811A>TCA365611180LAMA2c.2983A>T (p.Lys995Ter)
c.3247A>T (p.Lys1083Ter)
c.498A>T
c.3253A>T (p.Lys1085Ter)
c.1378A>T (p.Lys460Ter)
6g.129297812A>CCA365611181LAMA2c.2984A>C (p.Lys995Thr)
c.3248A>C (p.Lys1083Thr)
c.499A>C
c.3254A>C (p.Lys1085Thr)
c.1379A>C (p.Lys460Thr)
6g.129297812A>GCA365611183LAMA2c.2984A>G (p.Lys995Arg)
c.3248A>G (p.Lys1083Arg)
c.499A>G
c.3254A>G (p.Lys1085Arg)
c.1379A>G (p.Lys460Arg)
6g.129297812A>TCA365611182LAMA2c.2984A>T (p.Lys995Ile)
c.3248A>T (p.Lys1083Ile)
c.499A>T
c.3254A>T (p.Lys1085Ile)
c.1379A>T (p.Lys460Ile)
6g.129297813A>CCA365611184LAMA2c.2985A>C (p.Lys995Asn)
c.3249A>C (p.Lys1083Asn)
c.500A>C
c.3255A>C (p.Lys1085Asn)
c.1380A>C (p.Lys460Asn)
6g.129297813A>GCA451936173LAMA2c.2985A>G (p.Lys995=)
c.3249A>G (p.Lys1083=)
c.500A>G
c.3255A>G (p.Lys1085=)
c.1380A>G (p.Lys460=)
6g.129297813A>TCA365611185LAMA2c.2985A>T (p.Lys995Asn)
c.3249A>T (p.Lys1083Asn)
c.500A>T
c.3255A>T (p.Lys1085Asn)
c.1380A>T (p.Lys460Asn)
6g.129297814T>ACA365611186LAMA2c.2986T>A (p.Cys996Ser)
c.3250T>A (p.Cys1084Ser)
c.501T>A
c.3256T>A (p.Cys1086Ser)
c.1381T>A (p.Cys461Ser)
6g.129297814T>CCA365611187LAMA2c.2986T>C (p.Cys996Arg)
c.3250T>C (p.Cys1084Arg)
c.501T>C
c.3256T>C (p.Cys1086Arg)
c.1381T>C (p.Cys461Arg)
6g.129297814T>GCA365611188LAMA2c.2986T>G (p.Cys996Gly)
c.3250T>G (p.Cys1084Gly)
c.501T>G
c.3256T>G (p.Cys1086Gly)
c.1381T>G (p.Cys461Gly)
 ClinVar gnomAD v4
6g.129297815G>ACA365611189LAMA2c.2987G>A (p.Cys996Tyr)
c.3251G>A (p.Cys1084Tyr)
c.502G>A
c.3257G>A (p.Cys1086Tyr)
c.1382G>A (p.Cys461Tyr)
6g.129297815G>CCA365611190LAMA2c.2987G>C (p.Cys996Ser)
c.3251G>C (p.Cys1084Ser)
c.502G>C
c.3257G>C (p.Cys1086Ser)
c.1382G>C (p.Cys461Ser)
6g.129297815G>TCA365611191LAMA2c.2987G>T (p.Cys996Phe)
c.3251G>T (p.Cys1084Phe)
c.502G>T
c.3257G>T (p.Cys1086Phe)
c.1382G>T (p.Cys461Phe)
6g.129297816T>ACA365611192LAMA2c.2988T>A (p.Cys996Ter)
c.3252T>A (p.Cys1084Ter)
c.503T>A
c.3258T>A (p.Cys1086Ter)
c.1383T>A (p.Cys461Ter)
6g.129297816T>CCA146900648LAMA2c.2988T>C (p.Cys996=)
c.3252T>C (p.Cys1084=)
c.503T>C
c.3258T>C (p.Cys1086=)
c.1383T>C (p.Cys461=)
 dbSNP gnomAD v4
6g.129297816T>GCA365611193LAMA2c.2988T>G (p.Cys996Trp)
c.3252T>G (p.Cys1084Trp)
c.503T>G
c.3258T>G (p.Cys1086Trp)
c.1383T>G (p.Cys461Trp)
6g.129297816T=CA1663102554LAMA2c.2988T= (p.Cys996=)
c.3252T= (p.Cys1084=)
c.503T=
c.3258T= (p.Cys1086=)
c.1383T= (p.Cys461=)
6g.129297817G>ACA365611196LAMA2c.2989G>A (p.Asp997Asn)
c.3253G>A (p.Asp1085Asn)
c.504G>A
c.3259G>A (p.Asp1087Asn)
c.1384G>A (p.Asp462Asn)
 dbSNP gnomAD v3 gnomAD v4
6g.129297817G>CCA365611194LAMA2c.2989G>C (p.Asp997His)
c.3253G>C (p.Asp1085His)
c.504G>C
c.3259G>C (p.Asp1087His)
c.1384G>C (p.Asp462His)
6g.129297817G=CA1663102558LAMA2c.2989G= (p.Asp997=)
c.3253G= (p.Asp1085=)
c.504G=
c.3259G= (p.Asp1087=)
c.1384G= (p.Asp462=)
6g.129297817G>TCA365611195LAMA2c.2989G>T (p.Asp997Tyr)
c.3253G>T (p.Asp1085Tyr)
c.504G>T
c.3259G>T (p.Asp1087Tyr)
c.1384G>T (p.Asp462Tyr)
 gnomAD v4
6g.129297818A=CA1663102562LAMA2c.2990A= (p.Asp997=)
c.3254A= (p.Asp1085=)
c.505A=
c.3260A= (p.Asp1087=)
c.1385A= (p.Asp462=)
6g.129297818A>CCA365611197LAMA2c.2990A>C (p.Asp997Ala)
c.3254A>C (p.Asp1085Ala)
c.505A>C
c.3260A>C (p.Asp1087Ala)
c.1385A>C (p.Asp462Ala)
6g.129297818A>GCA365611199LAMA2c.2990A>G (p.Asp997Gly)
c.3254A>G (p.Asp1085Gly)
c.505A>G
c.3260A>G (p.Asp1087Gly)
c.1385A>G (p.Asp462Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129297818A>TCA365611198LAMA2c.2990A>T (p.Asp997Val)
c.3254A>T (p.Asp1085Val)
c.505A>T
c.3260A>T (p.Asp1087Val)
c.1385A>T (p.Asp462Val)
6g.129297819C>ACA365611200LAMA2c.2991C>A (p.Asp997Glu)
c.3255C>A (p.Asp1085Glu)
c.506C>A
c.3261C>A (p.Asp1087Glu)
c.1386C>A (p.Asp462Glu)
6g.129297819C=CA1663102566LAMA2c.2991C= (p.Asp997=)
c.3255C= (p.Asp1085=)
c.506C=
c.3261C= (p.Asp1087=)
c.1386C= (p.Asp462=)
6g.129297819C>GCA365611201LAMA2c.2991C>G (p.Asp997Glu)
c.3255C>G (p.Asp1085Glu)
c.506C>G
c.3261C>G (p.Asp1087Glu)
c.1386C>G (p.Asp462Glu)
6g.129297819C>TCA3993118LAMA2c.2991C>T (p.Asp997=)
c.3255C>T (p.Asp1085=)
c.506C>T
c.3261C>T (p.Asp1087=)
c.1386C>T (p.Asp462=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129297820C>ACA365611202LAMA2c.2992C>A (p.Arg998Ser)
c.3256C>A (p.Arg1086Ser)
c.507C>A
c.3262C>A (p.Arg1088Ser)
c.1387C>A (p.Arg463Ser)
6g.129297820C=CA1663102572LAMA2c.2992C= (p.Arg998=)
c.3256C= (p.Arg1086=)
c.507C=
c.3262C= (p.Arg1088=)
c.1387C= (p.Arg463=)
6g.129297820C>GCA365611203LAMA2c.2992C>G (p.Arg998Gly)
c.3256C>G (p.Arg1086Gly)
c.507C>G
c.3262C>G (p.Arg1088Gly)
c.1387C>G (p.Arg463Gly)
 COSMIC
6g.129297820C>TCA3993119LAMA2c.2992C>T (p.Arg998Cys)
c.3256C>T (p.Arg1086Cys)
c.507C>T
c.3262C>T (p.Arg1088Cys)
c.1387C>T (p.Arg463Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129297821G>ACA242031LAMA2c.2993G>A (p.Arg998His)
c.3257G>A (p.Arg1086His)
c.508G>A
c.3263G>A (p.Arg1088His)
c.1388G>A (p.Arg463His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129297821G>CCA365611204LAMA2c.2993G>C (p.Arg998Pro)
c.3257G>C (p.Arg1086Pro)
c.508G>C
c.3263G>C (p.Arg1088Pro)
c.1388G>C (p.Arg463Pro)
6g.129297821G=CA1663102578LAMA2c.2993G= (p.Arg998=)
c.3257G= (p.Arg1086=)
c.508G=
c.3263G= (p.Arg1088=)
c.1388G= (p.Arg463=)
6g.129297821G>TCA146900664LAMA2c.2993G>T (p.Arg998Leu)
c.3257G>T (p.Arg1086Leu)
c.508G>T
c.3263G>T (p.Arg1088Leu)
c.1388G>T (p.Arg463Leu)
 dbSNP gnomAD v4
6g.129297822C>ACA451936174LAMA2c.2994C>A (p.Arg998=)
c.3258C>A (p.Arg1086=)
c.509C>A
c.3264C>A (p.Arg1088=)
c.1389C>A (p.Arg463=)
6g.129297822C>GCA451936175LAMA2c.2994C>G (p.Arg998=)
c.3258C>G (p.Arg1086=)
c.509C>G
c.3264C>G (p.Arg1088=)
c.1389C>G (p.Arg463=)
6g.129297822C>TCA451936176LAMA2c.2994C>T (p.Arg998=)
c.3258C>T (p.Arg1086=)
c.509C>T
c.3264C>T (p.Arg1088=)
c.1389C>T (p.Arg463=)
 ClinVar
6g.129297823T>ACA365611205LAMA2c.2995T>A (p.Cys999Ser)
c.3259T>A (p.Cys1087Ser)
c.510T>A
c.3265T>A (p.Cys1089Ser)
c.1390T>A (p.Cys464Ser)
6g.129297823T>CCA365611206LAMA2c.2995T>C (p.Cys999Arg)
c.3259T>C (p.Cys1087Arg)
c.510T>C
c.3265T>C (p.Cys1089Arg)
c.1390T>C (p.Cys464Arg)
6g.129297823T>GCA365611207LAMA2c.2995T>G (p.Cys999Gly)
c.3259T>G (p.Cys1087Gly)
c.510T>G
c.3265T>G (p.Cys1089Gly)
c.1390T>G (p.Cys464Gly)
 gnomAD v4
6g.129297824G>ACA365611208LAMA2c.2996G>A (p.Cys999Tyr)
c.3260G>A (p.Cys1087Tyr)
c.511G>A
c.3266G>A (p.Cys1089Tyr)
c.1391G>A (p.Cys464Tyr)
 dbSNP gnomAD v2 gnomAD v4
6g.129297824G>CCA365611209LAMA2c.2996G>C (p.Cys999Ser)
c.3260G>C (p.Cys1087Ser)
c.511G>C
c.3266G>C (p.Cys1089Ser)
c.1391G>C (p.Cys464Ser)
6g.129297824G=CA1663102584LAMA2c.2996G= (p.Cys999=)
c.3260G= (p.Cys1087=)
c.511G=
c.3266G= (p.Cys1089=)
c.1391G= (p.Cys464=)
6g.129297824G>TCA365611210LAMA2c.2996G>T (p.Cys999Phe)
c.3260G>T (p.Cys1087Phe)
c.511G>T
c.3266G>T (p.Cys1089Phe)
c.1391G>T (p.Cys464Phe)
6g.129297825T>ACA365611211LAMA2c.2997T>A (p.Cys999Ter)
c.3261T>A (p.Cys1087Ter)
c.512T>A
c.3267T>A (p.Cys1089Ter)
c.1392T>A (p.Cys464Ter)
6g.129297825T>CCA451936178LAMA2c.2997T>C (p.Cys999=)
c.3261T>C (p.Cys1087=)
c.512T>C
c.3267T>C (p.Cys1089=)
c.1392T>C (p.Cys464=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.129297825T>GCA365611212LAMA2c.2997T>G (p.Cys999Trp)
c.3261T>G (p.Cys1087Trp)
c.512T>G
c.3267T>G (p.Cys1089Trp)
c.1392T>G (p.Cys464Trp)
6g.129297825T=CA1663102588LAMA2c.2997T= (p.Cys999=)
c.3261T= (p.Cys1087=)
c.512T=
c.3267T= (p.Cys1089=)
c.1392T= (p.Cys464=)
6g.129297826G>ACA365611213LAMA2c.2998G>A (p.Ala1000Thr)
c.3262G>A (p.Ala1088Thr)
c.513G>A
c.3268G>A (p.Ala1090Thr)
c.1393G>A (p.Ala465Thr)
 dbSNP gnomAD v3 gnomAD v4
6g.129297826G>CCA3993120LAMA2c.2998G>C (p.Ala1000Pro)
c.3262G>C (p.Ala1088Pro)
c.513G>C
c.3268G>C (p.Ala1090Pro)
c.1393G>C (p.Ala465Pro)
 dbSNP ExAC
6g.129297826G=CA1663102590LAMA2c.2998G= (p.Ala1000=)
c.3262G= (p.Ala1088=)
c.513G=
c.3268G= (p.Ala1090=)
c.1393G= (p.Ala465=)
6g.129297826G>TCA365611214LAMA2c.2998G>T (p.Ala1000Ser)
c.3262G>T (p.Ala1088Ser)
c.513G>T
c.3268G>T (p.Ala1090Ser)
c.1393G>T (p.Ala465Ser)
 ClinVar dbSNP
6g.129297827C>ACA3993121LAMA2c.2999C>A (p.Ala1000Asp)
c.3263C>A (p.Ala1088Asp)
c.514C>A
c.3269C>A (p.Ala1090Asp)
c.1394C>A (p.Ala465Asp)
 dbSNP ExAC gnomAD v2
6g.129297827C=CA1663102594LAMA2c.2999C= (p.Ala1000=)
c.3263C= (p.Ala1088=)
c.514C=
c.3269C= (p.Ala1090=)
c.1394C= (p.Ala465=)
6g.129297827C>GCA365611215LAMA2c.2999C>G (p.Ala1000Gly)
c.3263C>G (p.Ala1088Gly)
c.514C>G
c.3269C>G (p.Ala1090Gly)
c.1394C>G (p.Ala465Gly)
6g.129297827C>TCA365611216LAMA2c.2999C>T (p.Ala1000Val)
c.3263C>T (p.Ala1088Val)
c.514C>T
c.3269C>T (p.Ala1090Val)
c.1394C>T (p.Ala465Val)
 gnomAD v4
6g.129297828C>ACA451936180LAMA2c.3000C>A (p.Ala1000=)
c.3264C>A (p.Ala1088=)
c.515C>A
c.3270C>A (p.Ala1090=)
c.1395C>A (p.Ala465=)
6g.129297828C=CA1663102597LAMA2c.3000C= (p.Ala1000=)
c.3264C= (p.Ala1088=)
c.515C=
c.3270C= (p.Ala1090=)
c.1395C= (p.Ala465=)
6g.129297828C>GCA451936181LAMA2c.3000C>G (p.Ala1000=)
c.3264C>G (p.Ala1088=)
c.515C>G
c.3270C>G (p.Ala1090=)
c.1395C>G (p.Ala465=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.129297828C>TCA3993122LAMA2c.3000C>T (p.Ala1000=)
c.3264C>T (p.Ala1088=)
c.515C>T
c.3270C>T (p.Ala1090=)
c.1395C>T (p.Ala465=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129297829C>ACA365611217LAMA2c.3001C>A (p.His1001Asn)
c.3265C>A (p.His1089Asn)
c.516C>A
c.3271C>A (p.His1091Asn)
c.1396C>A (p.His466Asn)
 dbSNP gnomAD v3 gnomAD v4
6g.129297829C=CA1663102604LAMA2c.3001C= (p.His1001=)
c.3265C= (p.His1089=)
c.516C=
c.3271C= (p.His1091=)
c.1396C= (p.His466=)
6g.129297829C>GCA365611218LAMA2c.3001C>G (p.His1001Asp)
c.3265C>G (p.His1089Asp)
c.516C>G
c.3271C>G (p.His1091Asp)
c.1396C>G (p.His466Asp)
6g.129297829C>TCA365611219LAMA2c.3001C>T (p.His1001Tyr)
c.3265C>T (p.His1089Tyr)
c.516C>T
c.3271C>T (p.His1091Tyr)
c.1396C>T (p.His466Tyr)
 ClinVar dbSNP gnomAD v4
6g.129297830A=CA1663102609LAMA2c.3002A= (p.His1001=)
c.3266A= (p.His1089=)
c.517A=
c.3272A= (p.His1091=)
c.1397A= (p.His466=)
6g.129297830A>CCA3993123LAMA2c.3002A>C (p.His1001Pro)
c.3266A>C (p.His1089Pro)
c.517A>C
c.3272A>C (p.His1091Pro)
c.1397A>C (p.His466Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129297830A>GCA365611221LAMA2c.3002A>G (p.His1001Arg)
c.3266A>G (p.His1089Arg)
c.517A>G
c.3272A>G (p.His1091Arg)
c.1397A>G (p.His466Arg)
 gnomAD v4
6g.129297830A>TCA365611220LAMA2c.3002A>T (p.His1001Leu)
c.3266A>T (p.His1089Leu)
c.517A>T
c.3272A>T (p.His1091Leu)
c.1397A>T (p.His466Leu)
6g.129297830dupCA2695206981LAMA2c.3002dup (p.His1001GlnfsTer15)
c.3266dup (p.His1089GlnfsTer15)
c.517dup
c.3272dup (p.His1091GlnfsTer15)
c.1397dup (p.His466GlnfsTer15)
6g.129297831C>ACA3993125LAMA2c.3003C>A (p.His1001Gln)
c.3267C>A (p.His1089Gln)
c.518C>A
c.3273C>A (p.His1091Gln)
c.1398C>A (p.His466Gln)
 dbSNP ExAC
6g.129297831C=CA1663102622LAMA2c.3003C= (p.His1001=)
c.3267C= (p.His1089=)
c.518C=
c.3273C= (p.His1091=)
c.1398C= (p.His466=)
6g.129297831C>GCA365611222LAMA2c.3003C>G (p.His1001Gln)
c.3267C>G (p.His1089Gln)
c.518C>G
c.3273C>G (p.His1091Gln)
c.1398C>G (p.His466Gln)
6g.129297831C>TCA3993124LAMA2c.3003C>T (p.His1001=)
c.3267C>T (p.His1089=)
c.518C>T
c.3273C>T (p.His1091=)
c.1398C>T (p.His466=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129297832G>ACA3993126LAMA2c.3004G>A (p.Gly1002Ser)
c.3268G>A (p.Gly1090Ser)
c.519G>A
c.3274G>A (p.Gly1092Ser)
c.1399G>A (p.Gly467Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129297832G>CCA365611223LAMA2c.3004G>C (p.Gly1002Arg)
c.3268G>C (p.Gly1090Arg)
c.519G>C
c.3274G>C (p.Gly1092Arg)
c.1399G>C (p.Gly467Arg)
6g.129297832G=CA1663102630LAMA2c.3004G= (p.Gly1002=)
c.3268G= (p.Gly1090=)
c.519G=
c.3274G= (p.Gly1092=)
c.1399G= (p.Gly467=)
6g.129297832G>TCA365611224LAMA2c.3004G>T (p.Gly1002Cys)
c.3268G>T (p.Gly1090Cys)
c.519G>T
c.3274G>T (p.Gly1092Cys)
c.1399G>T (p.Gly467Cys)
 gnomAD v4
6g.129297833G>ACA365611225LAMA2c.3005G>A (p.Gly1002Asp)
c.3269G>A (p.Gly1090Asp)
c.520G>A
c.3275G>A (p.Gly1092Asp)
c.1400G>A (p.Gly467Asp)
6g.129297833G>CCA365611226LAMA2c.3005G>C (p.Gly1002Ala)
c.3269G>C (p.Gly1090Ala)
c.520G>C
c.3275G>C (p.Gly1092Ala)
c.1400G>C (p.Gly467Ala)
6g.129297833G=CA1663102636LAMA2c.3005G= (p.Gly1002=)
c.3269G= (p.Gly1090=)
c.520G=
c.3275G= (p.Gly1092=)
c.1400G= (p.Gly467=)
6g.129297833G>TCA365611227LAMA2c.3005G>T (p.Gly1002Val)
c.3269G>T (p.Gly1090Val)
c.520G>T
c.3275G>T (p.Gly1092Val)
c.1400G>T (p.Gly467Val)
 dbSNP gnomAD v2 gnomAD v4
6g.129297834C>ACA451936182LAMA2c.3006C>A (p.Gly1002=)
c.3270C>A (p.Gly1090=)
c.521C>A
c.3276C>A (p.Gly1092=)
c.1401C>A (p.Gly467=)
6g.129297834C>GCA451936183LAMA2c.3006C>G (p.Gly1002=)
c.3270C>G (p.Gly1090=)
c.521C>G
c.3276C>G (p.Gly1092=)
c.1401C>G (p.Gly467=)
6g.129297834C>TCA451936184LAMA2c.3006C>T (p.Gly1002=)
c.3270C>T (p.Gly1090=)
c.521C>T
c.3276C>T (p.Gly1092=)
c.1401C>T (p.Gly467=)
6g.129297835T>ACA365611228LAMA2c.3007T>A (p.Tyr1003Asn)
c.3271T>A (p.Tyr1091Asn)
c.522T>A
c.3277T>A (p.Tyr1093Asn)
c.1402T>A (p.Tyr468Asn)
6g.129297835T>CCA3993127LAMA2c.3007T>C (p.Tyr1003His)
c.3271T>C (p.Tyr1091His)
c.522T>C
c.3277T>C (p.Tyr1093His)
c.1402T>C (p.Tyr468His)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129297835T>GCA365611229LAMA2c.3007T>G (p.Tyr1003Asp)
c.3271T>G (p.Tyr1091Asp)
c.522T>G
c.3277T>G (p.Tyr1093Asp)
c.1402T>G (p.Tyr468Asp)
6g.129297835T=CA1663102637LAMA2c.3007T= (p.Tyr1003=)
c.3271T= (p.Tyr1091=)
c.522T=
c.3277T= (p.Tyr1093=)
c.1402T= (p.Tyr468=)
6g.129297836A=CA1663102638LAMA2c.3008A= (p.Tyr1003=)
c.3272A= (p.Tyr1091=)
c.523A=
c.3278A= (p.Tyr1093=)
c.1403A= (p.Tyr468=)
6g.129297836A>CCA365611231LAMA2c.3008A>C (p.Tyr1003Ser)
c.3272A>C (p.Tyr1091Ser)
c.523A>C
c.3278A>C (p.Tyr1093Ser)
c.1403A>C (p.Tyr468Ser)
6g.129297836A>GCA146900708LAMA2c.3008A>G (p.Tyr1003Cys)
c.3272A>G (p.Tyr1091Cys)
c.523A>G
c.3278A>G (p.Tyr1093Cys)
c.1403A>G (p.Tyr468Cys)
 dbSNP gnomAD v3 gnomAD v4
6g.129297836A>TCA365611230LAMA2c.3008A>T (p.Tyr1003Phe)
c.3272A>T (p.Tyr1091Phe)
c.523A>T
c.3278A>T (p.Tyr1093Phe)
c.1403A>T (p.Tyr468Phe)
6g.129297837T>ACA365611232LAMA2c.3009T>A (p.Tyr1003Ter)
c.3273T>A (p.Tyr1091Ter)
c.524T>A
c.3279T>A (p.Tyr1093Ter)
c.1404T>A (p.Tyr468Ter)
6g.129297837T>CCA451936185LAMA2c.3009T>C (p.Tyr1003=)
c.3273T>C (p.Tyr1091=)
c.524T>C
c.3279T>C (p.Tyr1093=)
c.1404T>C (p.Tyr468=)
6g.129297837T>GCA365611233LAMA2c.3009T>G (p.Tyr1003Ter)
c.3273T>G (p.Tyr1091Ter)
c.524T>G
c.3279T>G (p.Tyr1093Ter)
c.1404T>G (p.Tyr468Ter)
6g.129297838T>ACA365611234LAMA2c.3010T>A (p.Phe1004Ile)
c.3274T>A (p.Phe1092Ile)
c.525T>A
c.3280T>A (p.Phe1094Ile)
c.1405T>A (p.Phe469Ile)
6g.129297838T>CCA3993128LAMA2c.3010T>C (p.Phe1004Leu)
c.3274T>C (p.Phe1092Leu)
c.525T>C
c.3280T>C (p.Phe1094Leu)
c.1405T>C (p.Phe469Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129297838T>GCA365611235LAMA2c.3010T>G (p.Phe1004Val)
c.3274T>G (p.Phe1092Val)
c.525T>G
c.3280T>G (p.Phe1094Val)
c.1405T>G (p.Phe469Val)
6g.129297838T=CA1663102642LAMA2c.3010T= (p.Phe1004=)
c.3274T= (p.Phe1092=)
c.525T=
c.3280T= (p.Phe1094=)
c.1405T= (p.Phe469=)
6g.129297839T>ACA365611236LAMA2c.3011T>A (p.Phe1004Tyr)
c.3275T>A (p.Phe1092Tyr)
c.526T>A
c.3281T>A (p.Phe1094Tyr)
c.1406T>A (p.Phe469Tyr)
6g.129297839T>CCA365611237LAMA2c.3011T>C (p.Phe1004Ser)
c.3275T>C (p.Phe1092Ser)
c.526T>C
c.3281T>C (p.Phe1094Ser)
c.1406T>C (p.Phe469Ser)
6g.129297839T>GCA365611238LAMA2c.3011T>G (p.Phe1004Cys)
c.3275T>G (p.Phe1092Cys)
c.526T>G
c.3281T>G (p.Phe1094Cys)
c.1406T>G (p.Phe469Cys)
6g.129297840C>ACA365611239LAMA2c.3012C>A (p.Phe1004Leu)
c.3276C>A (p.Phe1092Leu)
c.527C>A
c.3282C>A (p.Phe1094Leu)
c.1407C>A (p.Phe469Leu)
6g.129297840C=CA1663102646LAMA2c.3012C= (p.Phe1004=)
c.3276C= (p.Phe1092=)
c.527C=
c.3282C= (p.Phe1094=)
c.1407C= (p.Phe469=)
6g.129297840C>GCA365611240LAMA2c.3012C>G (p.Phe1004Leu)
c.3276C>G (p.Phe1092Leu)
c.527C>G
c.3282C>G (p.Phe1094Leu)
c.1407C>G (p.Phe469Leu)
 dbSNP gnomAD v4
6g.129297840C>TCA451936186LAMA2c.3012C>T (p.Phe1004=)
c.3276C>T (p.Phe1092=)
c.527C>T
c.3282C>T (p.Phe1094=)
c.1407C>T (p.Phe469=)
 ClinVar
6g.129297841A>CCA365611241LAMA2c.3013A>C (p.Asn1005His)
c.3277A>C (p.Asn1093His)
c.528A>C
c.3283A>C (p.Asn1095His)
c.1408A>C (p.Asn470His)
6g.129297841A>GCA365611242LAMA2c.3013A>G (p.Asn1005Asp)
c.3277A>G (p.Asn1093Asp)
c.528A>G
c.3283A>G (p.Asn1095Asp)
c.1408A>G (p.Asn470Asp)
6g.129297841A>TCA365611243LAMA2c.3013A>T (p.Asn1005Tyr)
c.3277A>T (p.Asn1093Tyr)
c.528A>T
c.3283A>T (p.Asn1095Tyr)
c.1408A>T (p.Asn470Tyr)
6g.129297842A=CA1663102652LAMA2c.3014A= (p.Asn1005=)
c.3278A= (p.Asn1093=)
c.529A=
c.3284A= (p.Asn1095=)
c.1409A= (p.Asn470=)
6g.129297842A>CCA365611245LAMA2c.3014A>C (p.Asn1005Thr)
c.3278A>C (p.Asn1093Thr)
c.529A>C
c.3284A>C (p.Asn1095Thr)
c.1409A>C (p.Asn470Thr)
 gnomAD v4
6g.129297842A>GCA3993129LAMA2c.3014A>G (p.Asn1005Ser)
c.3278A>G (p.Asn1093Ser)
c.529A>G
c.3284A>G (p.Asn1095Ser)
c.1409A>G (p.Asn470Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129297842A>TCA365611244LAMA2c.3014A>T (p.Asn1005Ile)
c.3278A>T (p.Asn1093Ile)
c.529A>T
c.3284A>T (p.Asn1095Ile)
c.1409A>T (p.Asn470Ile)
6g.129297843C>ACA365611247LAMA2c.3015C>A (p.Asn1005Lys)
c.3279C>A (p.Asn1093Lys)
c.530C>A
c.3285C>A (p.Asn1095Lys)
c.1410C>A (p.Asn470Lys)
 dbSNP
6g.129297843C=CA1663102657LAMA2c.3015C= (p.Asn1005=)
c.3279C= (p.Asn1093=)
c.530C=
c.3285C= (p.Asn1095=)
c.1410C= (p.Asn470=)
6g.129297843C>GCA365611246LAMA2c.3015C>G (p.Asn1005Lys)
c.3279C>G (p.Asn1093Lys)
c.530C>G
c.3285C>G (p.Asn1095Lys)
c.1410C>G (p.Asn470Lys)
6g.129297843C>TCA451936187LAMA2c.3015C>T (p.Asn1005=)
c.3279C>T (p.Asn1093=)
c.530C>T
c.3285C>T (p.Asn1095=)
c.1410C>T (p.Asn470=)
 gnomAD v4
6g.129297844T>ACA365611248LAMA2c.3016T>A (p.Phe1006Ile)
c.3280T>A (p.Phe1094Ile)
c.531T>A
c.3286T>A (p.Phe1096Ile)
c.1411T>A (p.Phe471Ile)
6g.129297844T>CCA365611249LAMA2c.3016T>C (p.Phe1006Leu)
c.3280T>C (p.Phe1094Leu)
c.531T>C
c.3286T>C (p.Phe1096Leu)
c.1411T>C (p.Phe471Leu)
6g.129297844T>GCA365611250LAMA2c.3016T>G (p.Phe1006Val)
c.3280T>G (p.Phe1094Val)
c.531T>G
c.3286T>G (p.Phe1096Val)
c.1411T>G (p.Phe471Val)
6g.129297845T>ACA365611251LAMA2c.3017T>A (p.Phe1006Tyr)
c.3281T>A (p.Phe1094Tyr)
c.532T>A
c.3287T>A (p.Phe1096Tyr)
c.1412T>A (p.Phe471Tyr)
6g.129297845T>CCA365611252LAMA2c.3017T>C (p.Phe1006Ser)
c.3281T>C (p.Phe1094Ser)
c.532T>C
c.3287T>C (p.Phe1096Ser)
c.1412T>C (p.Phe471Ser)
6g.129297845T>GCA365611253LAMA2c.3017T>G (p.Phe1006Cys)
c.3281T>G (p.Phe1094Cys)
c.532T>G
c.3287T>G (p.Phe1096Cys)
c.1412T>G (p.Phe471Cys)
6g.129297845_129297846delinsTCCA1663102660LAMA2c.3017_3018delinsTC (p.Phe1006=)
c.3281_3282delinsTC (p.Phe1094=)
c.532_533delinsTC
c.3287_3288delinsTC (p.Phe1096=)
c.1412_1413delinsTC (p.Phe471=)
6g.129297846C>ACA365611254LAMA2c.3018C>A (p.Phe1006Leu)
c.3282C>A (p.Phe1094Leu)
c.533C>A
c.3288C>A (p.Phe1096Leu)
c.1413C>A (p.Phe471Leu)
 gnomAD v4
6g.129297846C>GCA365611255LAMA2c.3018C>G (p.Phe1006Leu)
c.3282C>G (p.Phe1094Leu)
c.533C>G
c.3288C>G (p.Phe1096Leu)
c.1413C>G (p.Phe471Leu)
6g.129297846C>TCA451936188LAMA2c.3018C>T (p.Phe1006=)
c.3282C>T (p.Phe1094=)
c.533C>T
c.3288C>T (p.Phe1096=)
c.1413C>T (p.Phe471=)
 gnomAD v4
6g.129297847delCA570205606LAMA2c.3019del (p.Gln1007LysfsTer?)
c.3283del (p.Gln1095LysfsTer?)
c.534del
c.3289del (p.Gln1097LysfsTer?)
c.1414del (p.Gln472LysfsTer?)
 dbSNP gnomAD v2 gnomAD v4
6g.129297847C>ACA365611256LAMA2c.3019C>A (p.Gln1007Lys)
c.3283C>A (p.Gln1095Lys)
c.534C>A
c.3289C>A (p.Gln1097Lys)
c.1414C>A (p.Gln472Lys)
6g.129297847C=CA1663102669LAMA2c.3019C= (p.Gln1007=)
c.3283C= (p.Gln1095=)
c.534C=
c.3289C= (p.Gln1097=)
c.1414C= (p.Gln472=)
6g.129297847C>GCA365611257LAMA2c.3019C>G (p.Gln1007Glu)
c.3283C>G (p.Gln1095Glu)
c.534C>G
c.3289C>G (p.Gln1097Glu)
c.1414C>G (p.Gln472Glu)
6g.129297847C>TCA3993131LAMA2c.3019C>T (p.Gln1007Ter)
c.3283C>T (p.Gln1095Ter)
c.534C>T
c.3289C>T (p.Gln1097Ter)
c.1414C>T (p.Gln472Ter)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
6g.129297847_129297849delinsCAACA1663102675LAMA2c.3019_3021delinsCAA (p.Gln1007=)
c.3283_3285delinsCAA (p.Gln1095=)
c.534_536delinsCAA
c.3289_3291delinsCAA (p.Gln1097=)
c.1414_1416delinsCAA (p.Gln472=)
6g.129297847_129297850delinsCAAGCA1663102668LAMA2c.3019_3022delinsCAAG (p.Gln1007=)
c.3283_3286delinsCAAG (p.Gln1095=)
c.534_537delinsCAAG
c.3289_3292delinsCAAG (p.Gln1097=)
c.1414_1417delinsCAAG (p.Gln472=)
6g.129297848A=CA1663102685LAMA2c.3020A= (p.Gln1007=)
c.3284A= (p.Gln1095=)
c.535A=
c.3290A= (p.Gln1097=)
c.1415A= (p.Gln472=)
6g.129297848A>CCA365611259LAMA2c.3020A>C (p.Gln1007Pro)
c.3284A>C (p.Gln1095Pro)
c.535A>C
c.3290A>C (p.Gln1097Pro)
c.1415A>C (p.Gln472Pro)
6g.129297848A>GCA365611260LAMA2c.3020A>G (p.Gln1007Arg)
c.3284A>G (p.Gln1095Arg)
c.535A>G
c.3290A>G (p.Gln1097Arg)
c.1415A>G (p.Gln472Arg)
6g.129297848A>TCA365611258LAMA2c.3020A>T (p.Gln1007Leu)
c.3284A>T (p.Gln1095Leu)
c.535A>T
c.3290A>T (p.Gln1097Leu)
c.1415A>T (p.Gln472Leu)
 dbSNP gnomAD v4
6g.129297848_129297849delCA3993130LAMA2c.3020_3021del (p.Gln1007ArgfsTer8)
c.3284_3285del (p.Gln1095ArgfsTer8)
c.535_536del
c.3290_3291del (p.Gln1097ArgfsTer8)
c.1415_1416del (p.Gln472ArgfsTer8)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129297851_129297853delCA146900745LAMA2c.3023_3025del (p.Glu1008del)
c.3287_3289del (p.Glu1096del)
c.538_540del
c.3293_3295del (p.Glu1098del)
c.1418_1420del (p.Glu473del)
 dbSNP
6g.129297849A>CCA365611261LAMA2c.3021A>C (p.Gln1007His)
c.3285A>C (p.Gln1095His)
c.536A>C
c.3291A>C (p.Gln1097His)
c.1416A>C (p.Gln472His)
 gnomAD v4
6g.129297849A>GCA451936189LAMA2c.3021A>G (p.Gln1007=)
c.3285A>G (p.Gln1095=)
c.536A>G
c.3291A>G (p.Gln1097=)
c.1416A>G (p.Gln472=)
6g.129297849A>TCA365611262LAMA2c.3021A>T (p.Gln1007His)
c.3285A>T (p.Gln1095His)
c.536A>T
c.3291A>T (p.Gln1097His)
c.1416A>T (p.Gln472His)
6g.129297850G>ACA365611263LAMA2c.3022G>A (p.Glu1008Lys)
c.3286G>A (p.Glu1096Lys)
c.537G>A
c.3292G>A (p.Glu1098Lys)
c.1417G>A (p.Glu473Lys)
 gnomAD v4
6g.129297850G>CCA365611264LAMA2c.3022G>C (p.Glu1008Gln)
c.3286G>C (p.Glu1096Gln)
c.537G>C
c.3292G>C (p.Glu1098Gln)
c.1417G>C (p.Glu473Gln)
6g.129297850G>TCA365611265LAMA2c.3022G>T (p.Glu1008Ter)
c.3286G>T (p.Glu1096Ter)
c.537G>T
c.3292G>T (p.Glu1098Ter)
c.1417G>T (p.Glu473Ter)
6g.129297851A=CA1663102686LAMA2c.3023A= (p.Glu1008=)
c.3287A= (p.Glu1096=)
c.538A=
c.3293A= (p.Glu1098=)
c.1418A= (p.Glu473=)
6g.129297851A>CCA365611266LAMA2c.3023A>C (p.Glu1008Ala)
c.3287A>C (p.Glu1096Ala)
c.538A>C
c.3293A>C (p.Glu1098Ala)
c.1418A>C (p.Glu473Ala)
6g.129297851A>GCA365611267LAMA2c.3023A>G (p.Glu1008Gly)
c.3287A>G (p.Glu1096Gly)
c.538A>G
c.3293A>G (p.Glu1098Gly)
c.1418A>G (p.Glu473Gly)
 dbSNP
6g.129297851A>TCA365611268LAMA2c.3023A>T (p.Glu1008Val)
c.3287A>T (p.Glu1096Val)
c.538A>T
c.3293A>T (p.Glu1098Val)
c.1418A>T (p.Glu473Val)
6g.129297852A=CA1663102689LAMA2c.3024A= (p.Glu1008=)
c.3288A= (p.Glu1096=)
c.539A=
c.3294A= (p.Glu1098=)
c.1419A= (p.Glu473=)
6g.129297852A>CCA365611269LAMA2c.3024A>C (p.Glu1008Asp)
c.3288A>C (p.Glu1096Asp)
c.539A>C
c.3294A>C (p.Glu1098Asp)
c.1419A>C (p.Glu473Asp)
6g.129297852A>GCA451936190LAMA2c.3024A>G (p.Glu1008=)
c.3288A>G (p.Glu1096=)
c.539A>G
c.3294A>G (p.Glu1098=)
c.1419A>G (p.Glu473=)
6g.129297852A>TCA365611270LAMA2c.3024A>T (p.Glu1008Asp)
c.3288A>T (p.Glu1096Asp)
c.539A>T
c.3294A>T (p.Glu1098Asp)
c.1419A>T (p.Glu473Asp)
 dbSNP gnomAD v4

Number of alleles fetched