Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23928666T>ACA402063894LAMA3c.3510T>A (p.Ser1170Arg)
c.8337T>A (p.Ser2779Arg)
c.4932T>A (p.Ser1644Arg)
c.8169T>A (p.Ser2723Arg)
c.3115T>A
c.3342T>A (p.Ser1114Arg)
c.42T>A (p.Ser14Arg)
n.2915T>A
c.8364T>A (p.Ser2788Arg)
c.8355T>A (p.Ser2785Arg)
c.8346T>A (p.Ser2782Arg)
c.8232T>A (p.Ser2744Arg)
c.8067T>A (p.Ser2689Arg)
c.6216T>A (p.Ser2072Arg)
c.3906T>A (p.Ser1302Arg)
n.8605T>A
18g.23928666T>CCA503340774LAMA3c.3510T>C (p.Ser1170=)
c.8337T>C (p.Ser2779=)
c.4932T>C (p.Ser1644=)
c.8169T>C (p.Ser2723=)
c.3115T>C
c.3342T>C (p.Ser1114=)
c.42T>C (p.Ser14=)
n.2915T>C
c.8364T>C (p.Ser2788=)
c.8355T>C (p.Ser2785=)
c.8346T>C (p.Ser2782=)
c.8232T>C (p.Ser2744=)
c.8067T>C (p.Ser2689=)
c.6216T>C (p.Ser2072=)
c.3906T>C (p.Ser1302=)
n.8605T>C
18g.23928666T>GCA402063895LAMA3c.3510T>G (p.Ser1170Arg)
c.8337T>G (p.Ser2779Arg)
c.4932T>G (p.Ser1644Arg)
c.8169T>G (p.Ser2723Arg)
c.3115T>G
c.3342T>G (p.Ser1114Arg)
c.42T>G (p.Ser14Arg)
n.2915T>G
c.8364T>G (p.Ser2788Arg)
c.8355T>G (p.Ser2785Arg)
c.8346T>G (p.Ser2782Arg)
c.8232T>G (p.Ser2744Arg)
c.8067T>G (p.Ser2689Arg)
c.6216T>G (p.Ser2072Arg)
c.3906T>G (p.Ser1302Arg)
n.8605T>G
18g.23928667T>ACA402063897LAMA3c.3511T>A (p.Phe1171Ile)
c.8338T>A (p.Phe2780Ile)
c.4933T>A (p.Phe1645Ile)
c.8170T>A (p.Phe2724Ile)
c.3116T>A
c.3343T>A (p.Phe1115Ile)
c.43T>A (p.Phe15Ile)
n.2916T>A
c.8365T>A (p.Phe2789Ile)
c.8356T>A (p.Phe2786Ile)
c.8347T>A (p.Phe2783Ile)
c.8233T>A (p.Phe2745Ile)
c.8068T>A (p.Phe2690Ile)
c.6217T>A (p.Phe2073Ile)
c.3907T>A (p.Phe1303Ile)
n.8606T>A
18g.23928667T>CCA402063900LAMA3c.3511T>C (p.Phe1171Leu)
c.8338T>C (p.Phe2780Leu)
c.4933T>C (p.Phe1645Leu)
c.8170T>C (p.Phe2724Leu)
c.3116T>C
c.3343T>C (p.Phe1115Leu)
c.43T>C (p.Phe15Leu)
n.2916T>C
c.8365T>C (p.Phe2789Leu)
c.8356T>C (p.Phe2786Leu)
c.8347T>C (p.Phe2783Leu)
c.8233T>C (p.Phe2745Leu)
c.8068T>C (p.Phe2690Leu)
c.6217T>C (p.Phe2073Leu)
c.3907T>C (p.Phe1303Leu)
n.8606T>C
18g.23928667T>GCA402063898LAMA3c.3511T>G (p.Phe1171Val)
c.8338T>G (p.Phe2780Val)
c.4933T>G (p.Phe1645Val)
c.8170T>G (p.Phe2724Val)
c.3116T>G
c.3343T>G (p.Phe1115Val)
c.43T>G (p.Phe15Val)
n.2916T>G
c.8365T>G (p.Phe2789Val)
c.8356T>G (p.Phe2786Val)
c.8347T>G (p.Phe2783Val)
c.8233T>G (p.Phe2745Val)
c.8068T>G (p.Phe2690Val)
c.6217T>G (p.Phe2073Val)
c.3907T>G (p.Phe1303Val)
n.8606T>G
18g.23928668T>ACA402063902LAMA3c.3512T>A (p.Phe1171Tyr)
c.8339T>A (p.Phe2780Tyr)
c.4934T>A (p.Phe1645Tyr)
c.8171T>A (p.Phe2724Tyr)
c.3117T>A
c.3344T>A (p.Phe1115Tyr)
c.44T>A (p.Phe15Tyr)
n.2917T>A
c.8366T>A (p.Phe2789Tyr)
c.8357T>A (p.Phe2786Tyr)
c.8348T>A (p.Phe2783Tyr)
c.8234T>A (p.Phe2745Tyr)
c.8069T>A (p.Phe2690Tyr)
c.6218T>A (p.Phe2073Tyr)
c.3908T>A (p.Phe1303Tyr)
n.8607T>A
18g.23928668T>CCA402063903LAMA3c.3512T>C (p.Phe1171Ser)
c.8339T>C (p.Phe2780Ser)
c.4934T>C (p.Phe1645Ser)
c.8171T>C (p.Phe2724Ser)
c.3117T>C
c.3344T>C (p.Phe1115Ser)
c.44T>C (p.Phe15Ser)
n.2917T>C
c.8366T>C (p.Phe2789Ser)
c.8357T>C (p.Phe2786Ser)
c.8348T>C (p.Phe2783Ser)
c.8234T>C (p.Phe2745Ser)
c.8069T>C (p.Phe2690Ser)
c.6218T>C (p.Phe2073Ser)
c.3908T>C (p.Phe1303Ser)
n.8607T>C
18g.23928668T>GCA402063904LAMA3c.3512T>G (p.Phe1171Cys)
c.8339T>G (p.Phe2780Cys)
c.4934T>G (p.Phe1645Cys)
c.8171T>G (p.Phe2724Cys)
c.3117T>G
c.3344T>G (p.Phe1115Cys)
c.44T>G (p.Phe15Cys)
n.2917T>G
c.8366T>G (p.Phe2789Cys)
c.8357T>G (p.Phe2786Cys)
c.8348T>G (p.Phe2783Cys)
c.8234T>G (p.Phe2745Cys)
c.8069T>G (p.Phe2690Cys)
c.6218T>G (p.Phe2073Cys)
c.3908T>G (p.Phe1303Cys)
n.8607T>G
18g.23928669C>ACA402063905LAMA3c.3513C>A (p.Phe1171Leu)
c.8340C>A (p.Phe2780Leu)
c.4935C>A (p.Phe1645Leu)
c.8172C>A (p.Phe2724Leu)
c.3118C>A
c.3345C>A (p.Phe1115Leu)
c.45C>A (p.Phe15Leu)
n.2918C>A
c.8367C>A (p.Phe2789Leu)
c.8358C>A (p.Phe2786Leu)
c.8349C>A (p.Phe2783Leu)
c.8235C>A (p.Phe2745Leu)
c.8070C>A (p.Phe2690Leu)
c.6219C>A (p.Phe2073Leu)
c.3909C>A (p.Phe1303Leu)
n.8608C>A
18g.23928669C>GCA402063906LAMA3c.3513C>G (p.Phe1171Leu)
c.8340C>G (p.Phe2780Leu)
c.4935C>G (p.Phe1645Leu)
c.8172C>G (p.Phe2724Leu)
c.3118C>G
c.3345C>G (p.Phe1115Leu)
c.45C>G (p.Phe15Leu)
n.2918C>G
c.8367C>G (p.Phe2789Leu)
c.8358C>G (p.Phe2786Leu)
c.8349C>G (p.Phe2783Leu)
c.8235C>G (p.Phe2745Leu)
c.8070C>G (p.Phe2690Leu)
c.6219C>G (p.Phe2073Leu)
c.3909C>G (p.Phe1303Leu)
n.8608C>G
18g.23928669C>TCA503340776LAMA3c.3513C>T (p.Phe1171=)
c.8340C>T (p.Phe2780=)
c.4935C>T (p.Phe1645=)
c.8172C>T (p.Phe2724=)
c.3118C>T
c.3345C>T (p.Phe1115=)
c.45C>T (p.Phe15=)
n.2918C>T
c.8367C>T (p.Phe2789=)
c.8358C>T (p.Phe2786=)
c.8349C>T (p.Phe2783=)
c.8235C>T (p.Phe2745=)
c.8070C>T (p.Phe2690=)
c.6219C>T (p.Phe2073=)
c.3909C>T (p.Phe1303=)
n.8608C>T
COSMIC COSMIC
18g.23928670A>CCA402063908LAMA3c.3514A>C (p.Thr1172Pro)
c.8341A>C (p.Thr2781Pro)
c.4936A>C (p.Thr1646Pro)
c.8173A>C (p.Thr2725Pro)
c.3119A>C
c.3346A>C (p.Thr1116Pro)
c.46A>C (p.Thr16Pro)
n.2919A>C
c.8368A>C (p.Thr2790Pro)
c.8359A>C (p.Thr2787Pro)
c.8350A>C (p.Thr2784Pro)
c.8236A>C (p.Thr2746Pro)
c.8071A>C (p.Thr2691Pro)
c.6220A>C (p.Thr2074Pro)
c.3910A>C (p.Thr1304Pro)
n.8609A>C
18g.23928670A>GCA402063910LAMA3c.3514A>G (p.Thr1172Ala)
c.8341A>G (p.Thr2781Ala)
c.4936A>G (p.Thr1646Ala)
c.8173A>G (p.Thr2725Ala)
c.3119A>G
c.3346A>G (p.Thr1116Ala)
c.46A>G (p.Thr16Ala)
n.2919A>G
c.8368A>G (p.Thr2790Ala)
c.8359A>G (p.Thr2787Ala)
c.8350A>G (p.Thr2784Ala)
c.8236A>G (p.Thr2746Ala)
c.8071A>G (p.Thr2691Ala)
c.6220A>G (p.Thr2074Ala)
c.3910A>G (p.Thr1304Ala)
n.8609A>G
18g.23928670A>TCA402063911LAMA3c.3514A>T (p.Thr1172Ser)
c.8341A>T (p.Thr2781Ser)
c.4936A>T (p.Thr1646Ser)
c.8173A>T (p.Thr2725Ser)
c.3119A>T
c.3346A>T (p.Thr1116Ser)
c.46A>T (p.Thr16Ser)
n.2919A>T
c.8368A>T (p.Thr2790Ser)
c.8359A>T (p.Thr2787Ser)
c.8350A>T (p.Thr2784Ser)
c.8236A>T (p.Thr2746Ser)
c.8071A>T (p.Thr2691Ser)
c.6220A>T (p.Thr2074Ser)
c.3910A>T (p.Thr1304Ser)
n.8609A>T
18g.23928671C>ACA402063913LAMA3c.3515C>A (p.Thr1172Asn)
c.8342C>A (p.Thr2781Asn)
c.4937C>A (p.Thr1646Asn)
c.8174C>A (p.Thr2725Asn)
c.3120C>A
c.3347C>A (p.Thr1116Asn)
c.47C>A (p.Thr16Asn)
n.2920C>A
c.8369C>A (p.Thr2790Asn)
c.8360C>A (p.Thr2787Asn)
c.8351C>A (p.Thr2784Asn)
c.8237C>A (p.Thr2746Asn)
c.8072C>A (p.Thr2691Asn)
c.6221C>A (p.Thr2074Asn)
c.3911C>A (p.Thr1304Asn)
n.8610C>A
18g.23928671C>GCA402063916LAMA3c.3515C>G (p.Thr1172Ser)
c.8342C>G (p.Thr2781Ser)
c.4937C>G (p.Thr1646Ser)
c.8174C>G (p.Thr2725Ser)
c.3120C>G
c.3347C>G (p.Thr1116Ser)
c.47C>G (p.Thr16Ser)
n.2920C>G
c.8369C>G (p.Thr2790Ser)
c.8360C>G (p.Thr2787Ser)
c.8351C>G (p.Thr2784Ser)
c.8237C>G (p.Thr2746Ser)
c.8072C>G (p.Thr2691Ser)
c.6221C>G (p.Thr2074Ser)
c.3911C>G (p.Thr1304Ser)
n.8610C>G
18g.23928671C>TCA402063918LAMA3c.3515C>T (p.Thr1172Ile)
c.8342C>T (p.Thr2781Ile)
c.4937C>T (p.Thr1646Ile)
c.8174C>T (p.Thr2725Ile)
c.3120C>T
c.3347C>T (p.Thr1116Ile)
c.47C>T (p.Thr16Ile)
n.2920C>T
c.8369C>T (p.Thr2790Ile)
c.8360C>T (p.Thr2787Ile)
c.8351C>T (p.Thr2784Ile)
c.8237C>T (p.Thr2746Ile)
c.8072C>T (p.Thr2691Ile)
c.6221C>T (p.Thr2074Ile)
c.3911C>T (p.Thr1304Ile)
n.8610C>T
gnomAD v4
18g.23928672T>ACA503340777LAMA3c.3516T>A (p.Thr1172=)
c.8343T>A (p.Thr2781=)
c.4938T>A (p.Thr1646=)
c.8175T>A (p.Thr2725=)
c.3121T>A
c.3348T>A (p.Thr1116=)
c.48T>A (p.Thr16=)
n.2921T>A
c.8370T>A (p.Thr2790=)
c.8361T>A (p.Thr2787=)
c.8352T>A (p.Thr2784=)
c.8238T>A (p.Thr2746=)
c.8073T>A (p.Thr2691=)
c.6222T>A (p.Thr2074=)
c.3912T>A (p.Thr1304=)
n.8611T>A
ClinVar dbSNP
18g.23928672T>CCA503340778LAMA3c.3516T>C (p.Thr1172=)
c.8343T>C (p.Thr2781=)
c.4938T>C (p.Thr1646=)
c.8175T>C (p.Thr2725=)
c.3121T>C
c.3348T>C (p.Thr1116=)
c.48T>C (p.Thr16=)
n.2921T>C
c.8370T>C (p.Thr2790=)
c.8361T>C (p.Thr2787=)
c.8352T>C (p.Thr2784=)
c.8238T>C (p.Thr2746=)
c.8073T>C (p.Thr2691=)
c.6222T>C (p.Thr2074=)
c.3912T>C (p.Thr1304=)
n.8611T>C
ClinVar dbSNP
18g.23928672T>GCA503340779LAMA3c.3516T>G (p.Thr1172=)
c.8343T>G (p.Thr2781=)
c.4938T>G (p.Thr1646=)
c.8175T>G (p.Thr2725=)
c.3121T>G
c.3348T>G (p.Thr1116=)
c.48T>G (p.Thr16=)
n.2921T>G
c.8370T>G (p.Thr2790=)
c.8361T>G (p.Thr2787=)
c.8352T>G (p.Thr2784=)
c.8238T>G (p.Thr2746=)
c.8073T>G (p.Thr2691=)
c.6222T>G (p.Thr2074=)
c.3912T>G (p.Thr1304=)
n.8611T>G
ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23928672T=CA2290334834LAMA3c.3516T= (p.Thr1172=)
c.8343T= (p.Thr2781=)
c.4938T= (p.Thr1646=)
c.8175T= (p.Thr2725=)
c.3121T=
c.3348T= (p.Thr1116=)
c.48T= (p.Thr16=)
n.2921T=
c.8370T= (p.Thr2790=)
c.8361T= (p.Thr2787=)
c.8352T= (p.Thr2784=)
c.8238T= (p.Thr2746=)
c.8073T= (p.Thr2691=)
c.6222T= (p.Thr2074=)
c.3912T= (p.Thr1304=)
n.8611T=
18g.23928673G>ACA297122864LAMA3c.3517G>A (p.Asp1173Asn)
c.8344G>A (p.Asp2782Asn)
c.4939G>A (p.Asp1647Asn)
c.8176G>A (p.Asp2726Asn)
c.3122G>A
c.3349G>A (p.Asp1117Asn)
c.49G>A (p.Asp17Asn)
n.2922G>A
c.8371G>A (p.Asp2791Asn)
c.8362G>A (p.Asp2788Asn)
c.8353G>A (p.Asp2785Asn)
c.8239G>A (p.Asp2747Asn)
c.8074G>A (p.Asp2692Asn)
c.6223G>A (p.Asp2075Asn)
c.3913G>A (p.Asp1305Asn)
n.8612G>A
dbSNP gnomAD v4
18g.23928673G>CCA402063922LAMA3c.3517G>C (p.Asp1173His)
c.8344G>C (p.Asp2782His)
c.4939G>C (p.Asp1647His)
c.8176G>C (p.Asp2726His)
c.3122G>C
c.3349G>C (p.Asp1117His)
c.49G>C (p.Asp17His)
n.2922G>C
c.8371G>C (p.Asp2791His)
c.8362G>C (p.Asp2788His)
c.8353G>C (p.Asp2785His)
c.8239G>C (p.Asp2747His)
c.8074G>C (p.Asp2692His)
c.6223G>C (p.Asp2075His)
c.3913G>C (p.Asp1305His)
n.8612G>C
18g.23928673G=CA2290334835LAMA3c.3517G= (p.Asp1173=)
c.8344G= (p.Asp2782=)
c.4939G= (p.Asp1647=)
c.8176G= (p.Asp2726=)
c.3122G=
c.3349G= (p.Asp1117=)
c.49G= (p.Asp17=)
n.2922G=
c.8371G= (p.Asp2791=)
c.8362G= (p.Asp2788=)
c.8353G= (p.Asp2785=)
c.8239G= (p.Asp2747=)
c.8074G= (p.Asp2692=)
c.6223G= (p.Asp2075=)
c.3913G= (p.Asp1305=)
n.8612G=
18g.23928673G>TCA402063921LAMA3c.3517G>T (p.Asp1173Tyr)
c.8344G>T (p.Asp2782Tyr)
c.4939G>T (p.Asp1647Tyr)
c.8176G>T (p.Asp2726Tyr)
c.3122G>T
c.3349G>T (p.Asp1117Tyr)
c.49G>T (p.Asp17Tyr)
n.2922G>T
c.8371G>T (p.Asp2791Tyr)
c.8362G>T (p.Asp2788Tyr)
c.8353G>T (p.Asp2785Tyr)
c.8239G>T (p.Asp2747Tyr)
c.8074G>T (p.Asp2692Tyr)
c.6223G>T (p.Asp2075Tyr)
c.3913G>T (p.Asp1305Tyr)
n.8612G>T
18g.23928674A>CCA402063928LAMA3c.3518A>C (p.Asp1173Ala)
c.8345A>C (p.Asp2782Ala)
c.4940A>C (p.Asp1647Ala)
c.8177A>C (p.Asp2726Ala)
c.3123A>C
c.3350A>C (p.Asp1117Ala)
c.50A>C (p.Asp17Ala)
n.2923A>C
c.8372A>C (p.Asp2791Ala)
c.8363A>C (p.Asp2788Ala)
c.8354A>C (p.Asp2785Ala)
c.8240A>C (p.Asp2747Ala)
c.8075A>C (p.Asp2692Ala)
c.6224A>C (p.Asp2075Ala)
c.3914A>C (p.Asp1305Ala)
n.8613A>C
18g.23928674A>GCA402063925LAMA3c.3518A>G (p.Asp1173Gly)
c.8345A>G (p.Asp2782Gly)
c.4940A>G (p.Asp1647Gly)
c.8177A>G (p.Asp2726Gly)
c.3123A>G
c.3350A>G (p.Asp1117Gly)
c.50A>G (p.Asp17Gly)
n.2923A>G
c.8372A>G (p.Asp2791Gly)
c.8363A>G (p.Asp2788Gly)
c.8354A>G (p.Asp2785Gly)
c.8240A>G (p.Asp2747Gly)
c.8075A>G (p.Asp2692Gly)
c.6224A>G (p.Asp2075Gly)
c.3914A>G (p.Asp1305Gly)
n.8613A>G
18g.23928674A>TCA402063926LAMA3c.3518A>T (p.Asp1173Val)
c.8345A>T (p.Asp2782Val)
c.4940A>T (p.Asp1647Val)
c.8177A>T (p.Asp2726Val)
c.3123A>T
c.3350A>T (p.Asp1117Val)
c.50A>T (p.Asp17Val)
n.2923A>T
c.8372A>T (p.Asp2791Val)
c.8363A>T (p.Asp2788Val)
c.8354A>T (p.Asp2785Val)
c.8240A>T (p.Asp2747Val)
c.8075A>T (p.Asp2692Val)
c.6224A>T (p.Asp2075Val)
c.3914A>T (p.Asp1305Val)
n.8613A>T
18g.23928675T>ACA402063930LAMA3c.3519T>A (p.Asp1173Glu)
c.8346T>A (p.Asp2782Glu)
c.4941T>A (p.Asp1647Glu)
c.8178T>A (p.Asp2726Glu)
c.3124T>A
c.3351T>A (p.Asp1117Glu)
c.51T>A (p.Asp17Glu)
n.2924T>A
c.8373T>A (p.Asp2791Glu)
c.8364T>A (p.Asp2788Glu)
c.8355T>A (p.Asp2785Glu)
c.8241T>A (p.Asp2747Glu)
c.8076T>A (p.Asp2692Glu)
c.6225T>A (p.Asp2075Glu)
c.3915T>A (p.Asp1305Glu)
n.8614T>A
18g.23928675T>CCA503340780LAMA3c.3519T>C (p.Asp1173=)
c.8346T>C (p.Asp2782=)
c.4941T>C (p.Asp1647=)
c.8178T>C (p.Asp2726=)
c.3124T>C
c.3351T>C (p.Asp1117=)
c.51T>C (p.Asp17=)
n.2924T>C
c.8373T>C (p.Asp2791=)
c.8364T>C (p.Asp2788=)
c.8355T>C (p.Asp2785=)
c.8241T>C (p.Asp2747=)
c.8076T>C (p.Asp2692=)
c.6225T>C (p.Asp2075=)
c.3915T>C (p.Asp1305=)
n.8614T>C
18g.23928675T>GCA402063932LAMA3c.3519T>G (p.Asp1173Glu)
c.8346T>G (p.Asp2782Glu)
c.4941T>G (p.Asp1647Glu)
c.8178T>G (p.Asp2726Glu)
c.3124T>G
c.3351T>G (p.Asp1117Glu)
c.51T>G (p.Asp17Glu)
n.2924T>G
c.8373T>G (p.Asp2791Glu)
c.8364T>G (p.Asp2788Glu)
c.8355T>G (p.Asp2785Glu)
c.8241T>G (p.Asp2747Glu)
c.8076T>G (p.Asp2692Glu)
c.6225T>G (p.Asp2075Glu)
c.3915T>G (p.Asp1305Glu)
n.8614T>G
18g.23928676T>ACA402063934LAMA3c.3520T>A (p.Leu1174Met)
c.8347T>A (p.Leu2783Met)
c.4942T>A (p.Leu1648Met)
c.8179T>A (p.Leu2727Met)
c.3125T>A
c.3352T>A (p.Leu1118Met)
c.52T>A (p.Leu18Met)
n.2925T>A
c.8374T>A (p.Leu2792Met)
c.8365T>A (p.Leu2789Met)
c.8356T>A (p.Leu2786Met)
c.8242T>A (p.Leu2748Met)
c.8077T>A (p.Leu2693Met)
c.6226T>A (p.Leu2076Met)
c.3916T>A (p.Leu1306Met)
n.8615T>A
18g.23928676T>CCA503340781LAMA3c.3520T>C (p.Leu1174=)
c.8347T>C (p.Leu2783=)
c.4942T>C (p.Leu1648=)
c.8179T>C (p.Leu2727=)
c.3125T>C
c.3352T>C (p.Leu1118=)
c.52T>C (p.Leu18=)
n.2925T>C
c.8374T>C (p.Leu2792=)
c.8365T>C (p.Leu2789=)
c.8356T>C (p.Leu2786=)
c.8242T>C (p.Leu2748=)
c.8077T>C (p.Leu2693=)
c.6226T>C (p.Leu2076=)
c.3916T>C (p.Leu1306=)
n.8615T>C
18g.23928676T>GCA402063935LAMA3c.3520T>G (p.Leu1174Val)
c.8347T>G (p.Leu2783Val)
c.4942T>G (p.Leu1648Val)
c.8179T>G (p.Leu2727Val)
c.3125T>G
c.3352T>G (p.Leu1118Val)
c.52T>G (p.Leu18Val)
n.2925T>G
c.8374T>G (p.Leu2792Val)
c.8365T>G (p.Leu2789Val)
c.8356T>G (p.Leu2786Val)
c.8242T>G (p.Leu2748Val)
c.8077T>G (p.Leu2693Val)
c.6226T>G (p.Leu2076Val)
c.3916T>G (p.Leu1306Val)
n.8615T>G
18g.23928677T>ACA402063940LAMA3c.3521T>A (p.Leu1174Ter)
c.8348T>A (p.Leu2783Ter)
c.4943T>A (p.Leu1648Ter)
c.8180T>A (p.Leu2727Ter)
c.3126T>A
c.3353T>A (p.Leu1118Ter)
c.53T>A (p.Leu18Ter)
n.2926T>A
c.8375T>A (p.Leu2792Ter)
c.8366T>A (p.Leu2789Ter)
c.8357T>A (p.Leu2786Ter)
c.8243T>A (p.Leu2748Ter)
c.8078T>A (p.Leu2693Ter)
c.6227T>A (p.Leu2076Ter)
c.3917T>A (p.Leu1306Ter)
n.8616T>A
18g.23928677T>CCA402063938LAMA3c.3521T>C (p.Leu1174Ser)
c.8348T>C (p.Leu2783Ser)
c.4943T>C (p.Leu1648Ser)
c.8180T>C (p.Leu2727Ser)
c.3126T>C
c.3353T>C (p.Leu1118Ser)
c.53T>C (p.Leu18Ser)
n.2926T>C
c.8375T>C (p.Leu2792Ser)
c.8366T>C (p.Leu2789Ser)
c.8357T>C (p.Leu2786Ser)
c.8243T>C (p.Leu2748Ser)
c.8078T>C (p.Leu2693Ser)
c.6227T>C (p.Leu2076Ser)
c.3917T>C (p.Leu1306Ser)
n.8616T>C
18g.23928677T>GCA402063939LAMA3c.3521T>G (p.Leu1174Trp)
c.8348T>G (p.Leu2783Trp)
c.4943T>G (p.Leu1648Trp)
c.8180T>G (p.Leu2727Trp)
c.3126T>G
c.3353T>G (p.Leu1118Trp)
c.53T>G (p.Leu18Trp)
n.2926T>G
c.8375T>G (p.Leu2792Trp)
c.8366T>G (p.Leu2789Trp)
c.8357T>G (p.Leu2786Trp)
c.8243T>G (p.Leu2748Trp)
c.8078T>G (p.Leu2693Trp)
c.6227T>G (p.Leu2076Trp)
c.3917T>G (p.Leu1306Trp)
n.8616T>G
18g.23928678G>ACA503340782LAMA3c.3522G>A (p.Leu1174=)
c.8349G>A (p.Leu2783=)
c.4944G>A (p.Leu1648=)
c.8181G>A (p.Leu2727=)
c.3127G>A
c.3354G>A (p.Leu1118=)
c.54G>A (p.Leu18=)
n.2927G>A
c.8376G>A (p.Leu2792=)
c.8367G>A (p.Leu2789=)
c.8358G>A (p.Leu2786=)
c.8244G>A (p.Leu2748=)
c.8079G>A (p.Leu2693=)
c.6228G>A (p.Leu2076=)
c.3918G>A (p.Leu1306=)
n.8617G>A
18g.23928678G>CCA402063943LAMA3c.3522G>C (p.Leu1174Phe)
c.8349G>C (p.Leu2783Phe)
c.4944G>C (p.Leu1648Phe)
c.8181G>C (p.Leu2727Phe)
c.3127G>C
c.3354G>C (p.Leu1118Phe)
c.54G>C (p.Leu18Phe)
n.2927G>C
c.8376G>C (p.Leu2792Phe)
c.8367G>C (p.Leu2789Phe)
c.8358G>C (p.Leu2786Phe)
c.8244G>C (p.Leu2748Phe)
c.8079G>C (p.Leu2693Phe)
c.6228G>C (p.Leu2076Phe)
c.3918G>C (p.Leu1306Phe)
n.8617G>C
18g.23928678G>TCA402063944LAMA3c.3522G>T (p.Leu1174Phe)
c.8349G>T (p.Leu2783Phe)
c.4944G>T (p.Leu1648Phe)
c.8181G>T (p.Leu2727Phe)
c.3127G>T
c.3354G>T (p.Leu1118Phe)
c.54G>T (p.Leu18Phe)
n.2927G>T
c.8376G>T (p.Leu2792Phe)
c.8367G>T (p.Leu2789Phe)
c.8358G>T (p.Leu2786Phe)
c.8244G>T (p.Leu2748Phe)
c.8079G>T (p.Leu2693Phe)
c.6228G>T (p.Leu2076Phe)
c.3918G>T (p.Leu1306Phe)
n.8617G>T
18g.23928679G>ACA402063946LAMA3c.3523G>A (p.Gly1175Ser)
c.8350G>A (p.Gly2784Ser)
c.4945G>A (p.Gly1649Ser)
c.8182G>A (p.Gly2728Ser)
c.3128G>A
c.3355G>A (p.Gly1119Ser)
c.55G>A (p.Gly19Ser)
n.2928G>A
c.8377G>A (p.Gly2793Ser)
c.8368G>A (p.Gly2790Ser)
c.8359G>A (p.Gly2787Ser)
c.8245G>A (p.Gly2749Ser)
c.8080G>A (p.Gly2694Ser)
c.6229G>A (p.Gly2077Ser)
c.3919G>A (p.Gly1307Ser)
n.8618G>A
18g.23928679G>CCA402063948LAMA3c.3523G>C (p.Gly1175Arg)
c.8350G>C (p.Gly2784Arg)
c.4945G>C (p.Gly1649Arg)
c.8182G>C (p.Gly2728Arg)
c.3128G>C
c.3355G>C (p.Gly1119Arg)
c.55G>C (p.Gly19Arg)
n.2928G>C
c.8377G>C (p.Gly2793Arg)
c.8368G>C (p.Gly2790Arg)
c.8359G>C (p.Gly2787Arg)
c.8245G>C (p.Gly2749Arg)
c.8080G>C (p.Gly2694Arg)
c.6229G>C (p.Gly2077Arg)
c.3919G>C (p.Gly1307Arg)
n.8618G>C
18g.23928679G>TCA402063950LAMA3c.3523G>T (p.Gly1175Cys)
c.8350G>T (p.Gly2784Cys)
c.4945G>T (p.Gly1649Cys)
c.8182G>T (p.Gly2728Cys)
c.3128G>T
c.3355G>T (p.Gly1119Cys)
c.55G>T (p.Gly19Cys)
n.2928G>T
c.8377G>T (p.Gly2793Cys)
c.8368G>T (p.Gly2790Cys)
c.8359G>T (p.Gly2787Cys)
c.8245G>T (p.Gly2749Cys)
c.8080G>T (p.Gly2694Cys)
c.6229G>T (p.Gly2077Cys)
c.3919G>T (p.Gly1307Cys)
n.8618G>T
18g.23928680G>ACA402063956LAMA3c.3524G>A (p.Gly1175Asp)
c.8351G>A (p.Gly2784Asp)
c.4946G>A (p.Gly1649Asp)
c.8183G>A (p.Gly2728Asp)
c.3129G>A
c.3356G>A (p.Gly1119Asp)
c.56G>A (p.Gly19Asp)
n.2929G>A
c.8378G>A (p.Gly2793Asp)
c.8369G>A (p.Gly2790Asp)
c.8360G>A (p.Gly2787Asp)
c.8246G>A (p.Gly2749Asp)
c.8081G>A (p.Gly2694Asp)
c.6230G>A (p.Gly2077Asp)
c.3920G>A (p.Gly1307Asp)
n.8619G>A
18g.23928680G>CCA402063952LAMA3c.3524G>C (p.Gly1175Ala)
c.8351G>C (p.Gly2784Ala)
c.4946G>C (p.Gly1649Ala)
c.8183G>C (p.Gly2728Ala)
c.3129G>C
c.3356G>C (p.Gly1119Ala)
c.56G>C (p.Gly19Ala)
n.2929G>C
c.8378G>C (p.Gly2793Ala)
c.8369G>C (p.Gly2790Ala)
c.8360G>C (p.Gly2787Ala)
c.8246G>C (p.Gly2749Ala)
c.8081G>C (p.Gly2694Ala)
c.6230G>C (p.Gly2077Ala)
c.3920G>C (p.Gly1307Ala)
n.8619G>C
18g.23928680G>TCA402063954LAMA3c.3524G>T (p.Gly1175Val)
c.8351G>T (p.Gly2784Val)
c.4946G>T (p.Gly1649Val)
c.8183G>T (p.Gly2728Val)
c.3129G>T
c.3356G>T (p.Gly1119Val)
c.56G>T (p.Gly19Val)
n.2929G>T
c.8378G>T (p.Gly2793Val)
c.8369G>T (p.Gly2790Val)
c.8360G>T (p.Gly2787Val)
c.8246G>T (p.Gly2749Val)
c.8081G>T (p.Gly2694Val)
c.6230G>T (p.Gly2077Val)
c.3920G>T (p.Gly1307Val)
n.8619G>T
18g.23928681C>ACA503340783LAMA3c.3525C>A (p.Gly1175=)
c.8352C>A (p.Gly2784=)
c.4947C>A (p.Gly1649=)
c.8184C>A (p.Gly2728=)
c.3130C>A
c.3357C>A (p.Gly1119=)
c.57C>A (p.Gly19=)
n.2930C>A
c.8379C>A (p.Gly2793=)
c.8370C>A (p.Gly2790=)
c.8361C>A (p.Gly2787=)
c.8247C>A (p.Gly2749=)
c.8082C>A (p.Gly2694=)
c.6231C>A (p.Gly2077=)
c.3921C>A (p.Gly1307=)
n.8620C>A
18g.23928681C>GCA503340784LAMA3c.3525C>G (p.Gly1175=)
c.8352C>G (p.Gly2784=)
c.4947C>G (p.Gly1649=)
c.8184C>G (p.Gly2728=)
c.3130C>G
c.3357C>G (p.Gly1119=)
c.57C>G (p.Gly19=)
n.2930C>G
c.8379C>G (p.Gly2793=)
c.8370C>G (p.Gly2790=)
c.8361C>G (p.Gly2787=)
c.8247C>G (p.Gly2749=)
c.8082C>G (p.Gly2694=)
c.6231C>G (p.Gly2077=)
c.3921C>G (p.Gly1307=)
n.8620C>G
18g.23928681C>TCA503340785LAMA3c.3525C>T (p.Gly1175=)
c.8352C>T (p.Gly2784=)
c.4947C>T (p.Gly1649=)
c.8184C>T (p.Gly2728=)
c.3130C>T
c.3357C>T (p.Gly1119=)
c.57C>T (p.Gly19=)
n.2930C>T
c.8379C>T (p.Gly2793=)
c.8370C>T (p.Gly2790=)
c.8361C>T (p.Gly2787=)
c.8247C>T (p.Gly2749=)
c.8082C>T (p.Gly2694=)
c.6231C>T (p.Gly2077=)
c.3921C>T (p.Gly1307=)
n.8620C>T
ClinVar

Number of alleles fetched