Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.23928666T>A | CA402063894 | LAMA3 | c.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 | |
18 | g.23928666T>C | CA503340774 | LAMA3 | c.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 | |
18 | g.23928666T>G | CA402063895 | LAMA3 | c.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 | |
18 | g.23928667T>A | CA402063897 | LAMA3 | c.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 | |
18 | g.23928667T>C | CA402063900 | LAMA3 | c.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 | |
18 | g.23928667T>G | CA402063898 | LAMA3 | c.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 | |
18 | g.23928668T>A | CA402063902 | LAMA3 | c.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 | |
18 | g.23928668T>C | CA402063903 | LAMA3 | c.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 | |
18 | g.23928668T>G | CA402063904 | LAMA3 | c.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 | |
18 | g.23928669C>A | CA402063905 | LAMA3 | c.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 | |
18 | g.23928669C>G | CA402063906 | LAMA3 | c.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 | |
18 | g.23928669C>T | CA503340776 | LAMA3 | c.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 |
18 | g.23928670A>C | CA402063908 | LAMA3 | c.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 | |
18 | g.23928670A>G | CA402063910 | LAMA3 | c.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 | |
18 | g.23928670A>T | CA402063911 | LAMA3 | c.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 | |
18 | g.23928671C>A | CA402063913 | LAMA3 | c.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 | |
18 | g.23928671C>G | CA402063916 | LAMA3 | c.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 | |
18 | g.23928671C>T | CA402063918 | LAMA3 | c.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 |
18 | g.23928672T>A | CA503340777 | LAMA3 | c.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 |
18 | g.23928672T>C | CA503340778 | LAMA3 | c.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 |
18 | g.23928672T>G | CA503340779 | LAMA3 | c.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 |
18 | g.23928672T= | CA2290334834 | LAMA3 | c.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= | |
18 | g.23928673G>A | CA297122864 | LAMA3 | c.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 |
18 | g.23928673G>C | CA402063922 | LAMA3 | c.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 | |
18 | g.23928673G= | CA2290334835 | LAMA3 | c.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= | |
18 | g.23928673G>T | CA402063921 | LAMA3 | c.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 | |
18 | g.23928674A>C | CA402063928 | LAMA3 | c.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 | |
18 | g.23928674A>G | CA402063925 | LAMA3 | c.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 | |
18 | g.23928674A>T | CA402063926 | LAMA3 | c.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 | |
18 | g.23928675T>A | CA402063930 | LAMA3 | c.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 | |
18 | g.23928675T>C | CA503340780 | LAMA3 | c.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 | |
18 | g.23928675T>G | CA402063932 | LAMA3 | c.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 | |
18 | g.23928676T>A | CA402063934 | LAMA3 | c.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 | |
18 | g.23928676T>C | CA503340781 | LAMA3 | c.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 | |
18 | g.23928676T>G | CA402063935 | LAMA3 | c.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 | |
18 | g.23928677T>A | CA402063940 | LAMA3 | c.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 | |
18 | g.23928677T>C | CA402063938 | LAMA3 | c.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 | |
18 | g.23928677T>G | CA402063939 | LAMA3 | c.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 | |
18 | g.23928678G>A | CA503340782 | LAMA3 | c.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 | |
18 | g.23928678G>C | CA402063943 | LAMA3 | c.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 | |
18 | g.23928678G>T | CA402063944 | LAMA3 | c.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 | |
18 | g.23928679G>A | CA402063946 | LAMA3 | c.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 | |
18 | g.23928679G>C | CA402063948 | LAMA3 | c.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 | |
18 | g.23928679G>T | CA402063950 | LAMA3 | c.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 | |
18 | g.23928680G>A | CA402063956 | LAMA3 | c.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 | |
18 | g.23928680G>C | CA402063952 | LAMA3 | c.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 | |
18 | g.23928680G>T | CA402063954 | LAMA3 | c.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 | |
18 | g.23928681C>A | CA503340783 | LAMA3 | c.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 | |
18 | g.23928681C>G | CA503340784 | LAMA3 | c.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 | |
18 | g.23928681C>T | CA503340785 | LAMA3 | c.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 |