Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.23921487G>A | CA402061364 | LAMA3 | c.3252G>A (p.Met1084Ile) c.8079G>A (p.Met2693Ile) c.4674G>A (p.Met1558Ile) c.7911G>A (p.Met2637Ile) c.2857G>A c.3084G>A (p.Met1028Ile) n.2657G>A c.8106G>A (p.Met2702Ile) c.8097G>A (p.Met2699Ile) c.8088G>A (p.Met2696Ile) c.7974G>A (p.Met2658Ile) c.7809G>A (p.Met2603Ile) c.5958G>A (p.Met1986Ile) c.3648G>A (p.Met1216Ile) n.8347G>A | |
18 | g.23921487G>C | CA402061366 | LAMA3 | c.3252G>C (p.Met1084Ile) c.8079G>C (p.Met2693Ile) c.4674G>C (p.Met1558Ile) c.7911G>C (p.Met2637Ile) c.2857G>C c.3084G>C (p.Met1028Ile) n.2657G>C c.8106G>C (p.Met2702Ile) c.8097G>C (p.Met2699Ile) c.8088G>C (p.Met2696Ile) c.7974G>C (p.Met2658Ile) c.7809G>C (p.Met2603Ile) c.5958G>C (p.Met1986Ile) c.3648G>C (p.Met1216Ile) n.8347G>C | |
18 | g.23921487G>T | CA402061367 | LAMA3 | c.3252G>T (p.Met1084Ile) c.8079G>T (p.Met2693Ile) c.4674G>T (p.Met1558Ile) c.7911G>T (p.Met2637Ile) c.2857G>T c.3084G>T (p.Met1028Ile) n.2657G>T c.8106G>T (p.Met2702Ile) c.8097G>T (p.Met2699Ile) c.8088G>T (p.Met2696Ile) c.7974G>T (p.Met2658Ile) c.7809G>T (p.Met2603Ile) c.5958G>T (p.Met1986Ile) c.3648G>T (p.Met1216Ile) n.8347G>T | |
18 | g.23921488T>A | CA402061369 | LAMA3 | c.3253T>A (p.Trp1085Arg) c.8080T>A (p.Trp2694Arg) c.4675T>A (p.Trp1559Arg) c.7912T>A (p.Trp2638Arg) c.2858T>A c.3085T>A (p.Trp1029Arg) n.2658T>A c.8107T>A (p.Trp2703Arg) c.8098T>A (p.Trp2700Arg) c.8089T>A (p.Trp2697Arg) c.7975T>A (p.Trp2659Arg) c.7810T>A (p.Trp2604Arg) c.5959T>A (p.Trp1987Arg) c.3649T>A (p.Trp1217Arg) n.8348T>A | |
18 | g.23921488T>C | CA402061370 | LAMA3 | c.3253T>C (p.Trp1085Arg) c.8080T>C (p.Trp2694Arg) c.4675T>C (p.Trp1559Arg) c.7912T>C (p.Trp2638Arg) c.2858T>C c.3085T>C (p.Trp1029Arg) n.2658T>C c.8107T>C (p.Trp2703Arg) c.8098T>C (p.Trp2700Arg) c.8089T>C (p.Trp2697Arg) c.7975T>C (p.Trp2659Arg) c.7810T>C (p.Trp2604Arg) c.5959T>C (p.Trp1987Arg) c.3649T>C (p.Trp1217Arg) n.8348T>C | gnomAD v4 |
18 | g.23921488T>G | CA402061371 | LAMA3 | c.3253T>G (p.Trp1085Gly) c.8080T>G (p.Trp2694Gly) c.4675T>G (p.Trp1559Gly) c.7912T>G (p.Trp2638Gly) c.2858T>G c.3085T>G (p.Trp1029Gly) n.2658T>G c.8107T>G (p.Trp2703Gly) c.8098T>G (p.Trp2700Gly) c.8089T>G (p.Trp2697Gly) c.7975T>G (p.Trp2659Gly) c.7810T>G (p.Trp2604Gly) c.5959T>G (p.Trp1987Gly) c.3649T>G (p.Trp1217Gly) n.8348T>G | |
18 | g.23921489G>A | CA402061374 | LAMA3 | c.3254G>A (p.Trp1085Ter) c.8081G>A (p.Trp2694Ter) c.4676G>A (p.Trp1559Ter) c.7913G>A (p.Trp2638Ter) c.2859G>A c.3086G>A (p.Trp1029Ter) n.2659G>A c.8108G>A (p.Trp2703Ter) c.8099G>A (p.Trp2700Ter) c.8090G>A (p.Trp2697Ter) c.7976G>A (p.Trp2659Ter) c.7811G>A (p.Trp2604Ter) c.5960G>A (p.Trp1987Ter) c.3650G>A (p.Trp1217Ter) n.8349G>A | ClinVar dbSNP gnomAD v4 |
18 | g.23921489G>C | CA402061375 | LAMA3 | c.3254G>C (p.Trp1085Ser) c.8081G>C (p.Trp2694Ser) c.4676G>C (p.Trp1559Ser) c.7913G>C (p.Trp2638Ser) c.2859G>C c.3086G>C (p.Trp1029Ser) n.2659G>C c.8108G>C (p.Trp2703Ser) c.8099G>C (p.Trp2700Ser) c.8090G>C (p.Trp2697Ser) c.7976G>C (p.Trp2659Ser) c.7811G>C (p.Trp2604Ser) c.5960G>C (p.Trp1987Ser) c.3650G>C (p.Trp1217Ser) n.8349G>C | |
18 | g.23921489G= | CA2290331860 | LAMA3 | c.3254G= (p.Trp1085=) c.8081G= (p.Trp2694=) c.4676G= (p.Trp1559=) c.7913G= (p.Trp2638=) c.2859G= c.3086G= (p.Trp1029=) n.2659G= c.8108G= (p.Trp2703=) c.8099G= (p.Trp2700=) c.8090G= (p.Trp2697=) c.7976G= (p.Trp2659=) c.7811G= (p.Trp2604=) c.5960G= (p.Trp1987=) c.3650G= (p.Trp1217=) n.8349G= | |
18 | g.23921489G>T | CA402061377 | LAMA3 | c.3254G>T (p.Trp1085Leu) c.8081G>T (p.Trp2694Leu) c.4676G>T (p.Trp1559Leu) c.7913G>T (p.Trp2638Leu) c.2859G>T c.3086G>T (p.Trp1029Leu) n.2659G>T c.8108G>T (p.Trp2703Leu) c.8099G>T (p.Trp2700Leu) c.8090G>T (p.Trp2697Leu) c.7976G>T (p.Trp2659Leu) c.7811G>T (p.Trp2604Leu) c.5960G>T (p.Trp1987Leu) c.3650G>T (p.Trp1217Leu) n.8349G>T | |
18 | g.23921490G>A | CA402061381 | LAMA3 | c.3255G>A (p.Trp1085Ter) c.8082G>A (p.Trp2694Ter) c.4677G>A (p.Trp1559Ter) c.7914G>A (p.Trp2638Ter) c.2860G>A c.3087G>A (p.Trp1029Ter) n.2660G>A c.8109G>A (p.Trp2703Ter) c.8100G>A (p.Trp2700Ter) c.8091G>A (p.Trp2697Ter) c.7977G>A (p.Trp2659Ter) c.7812G>A (p.Trp2604Ter) c.5961G>A (p.Trp1987Ter) c.3651G>A (p.Trp1217Ter) n.8350G>A | COSMIC COSMIC |
18 | g.23921490G>C | CA402061382 | LAMA3 | c.3255G>C (p.Trp1085Cys) c.8082G>C (p.Trp2694Cys) c.4677G>C (p.Trp1559Cys) c.7914G>C (p.Trp2638Cys) c.2860G>C c.3087G>C (p.Trp1029Cys) n.2660G>C c.8109G>C (p.Trp2703Cys) c.8100G>C (p.Trp2700Cys) c.8091G>C (p.Trp2697Cys) c.7977G>C (p.Trp2659Cys) c.7812G>C (p.Trp2604Cys) c.5961G>C (p.Trp1987Cys) c.3651G>C (p.Trp1217Cys) n.8350G>C | |
18 | g.23921490G= | CA2290331861 | LAMA3 | c.3255G= (p.Trp1085=) c.8082G= (p.Trp2694=) c.4677G= (p.Trp1559=) c.7914G= (p.Trp2638=) c.2860G= c.3087G= (p.Trp1029=) n.2660G= c.8109G= (p.Trp2703=) c.8100G= (p.Trp2700=) c.8091G= (p.Trp2697=) c.7977G= (p.Trp2659=) c.7812G= (p.Trp2604=) c.5961G= (p.Trp1987=) c.3651G= (p.Trp1217=) n.8350G= | |
18 | g.23921490G>T | CA8916831 | LAMA3 | c.3255G>T (p.Trp1085Cys) c.8082G>T (p.Trp2694Cys) c.4677G>T (p.Trp1559Cys) c.7914G>T (p.Trp2638Cys) c.2860G>T c.3087G>T (p.Trp1029Cys) n.2660G>T c.8109G>T (p.Trp2703Cys) c.8100G>T (p.Trp2700Cys) c.8091G>T (p.Trp2697Cys) c.7977G>T (p.Trp2659Cys) c.7812G>T (p.Trp2604Cys) c.5961G>T (p.Trp1987Cys) c.3651G>T (p.Trp1217Cys) n.8350G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23921491A= | CA2290331862 | LAMA3 | c.3256A= (p.Ile1086=) c.8083A= (p.Ile2695=) c.4678A= (p.Ile1560=) c.7915A= (p.Ile2639=) c.2861A= c.3088A= (p.Ile1030=) n.2661A= c.8110A= (p.Ile2704=) c.8101A= (p.Ile2701=) c.8092A= (p.Ile2698=) c.7978A= (p.Ile2660=) c.7813A= (p.Ile2605=) c.5962A= (p.Ile1988=) c.3652A= (p.Ile1218=) n.8351A= | |
18 | g.23921491A>C | CA402061384 | LAMA3 | c.3256A>C (p.Ile1086Leu) c.8083A>C (p.Ile2695Leu) c.4678A>C (p.Ile1560Leu) c.7915A>C (p.Ile2639Leu) c.2861A>C c.3088A>C (p.Ile1030Leu) n.2661A>C c.8110A>C (p.Ile2704Leu) c.8101A>C (p.Ile2701Leu) c.8092A>C (p.Ile2698Leu) c.7978A>C (p.Ile2660Leu) c.7813A>C (p.Ile2605Leu) c.5962A>C (p.Ile1988Leu) c.3652A>C (p.Ile1218Leu) n.8351A>C | |
18 | g.23921491A>G | CA402061386 | LAMA3 | c.3256A>G (p.Ile1086Val) c.8083A>G (p.Ile2695Val) c.4678A>G (p.Ile1560Val) c.7915A>G (p.Ile2639Val) c.2861A>G c.3088A>G (p.Ile1030Val) n.2661A>G c.8110A>G (p.Ile2704Val) c.8101A>G (p.Ile2701Val) c.8092A>G (p.Ile2698Val) c.7978A>G (p.Ile2660Val) c.7813A>G (p.Ile2605Val) c.5962A>G (p.Ile1988Val) c.3652A>G (p.Ile1218Val) n.8351A>G | |
18 | g.23921491A>T | CA402061385 | LAMA3 | c.3256A>T (p.Ile1086Leu) c.8083A>T (p.Ile2695Leu) c.4678A>T (p.Ile1560Leu) c.7915A>T (p.Ile2639Leu) c.2861A>T c.3088A>T (p.Ile1030Leu) n.2661A>T c.8110A>T (p.Ile2704Leu) c.8101A>T (p.Ile2701Leu) c.8092A>T (p.Ile2698Leu) c.7978A>T (p.Ile2660Leu) c.7813A>T (p.Ile2605Leu) c.5962A>T (p.Ile1988Leu) c.3652A>T (p.Ile1218Leu) n.8351A>T | dbSNP |
18 | g.23921492T>A | CA402061389 | LAMA3 | c.3257T>A (p.Ile1086Lys) c.8084T>A (p.Ile2695Lys) c.4679T>A (p.Ile1560Lys) c.7916T>A (p.Ile2639Lys) c.2862T>A c.3089T>A (p.Ile1030Lys) n.2662T>A c.8111T>A (p.Ile2704Lys) c.8102T>A (p.Ile2701Lys) c.8093T>A (p.Ile2698Lys) c.7979T>A (p.Ile2660Lys) c.7814T>A (p.Ile2605Lys) c.5963T>A (p.Ile1988Lys) c.3653T>A (p.Ile1218Lys) n.8352T>A | |
18 | g.23921492T>C | CA402061391 | LAMA3 | c.3257T>C (p.Ile1086Thr) c.8084T>C (p.Ile2695Thr) c.4679T>C (p.Ile1560Thr) c.7916T>C (p.Ile2639Thr) c.2862T>C c.3089T>C (p.Ile1030Thr) n.2662T>C c.8111T>C (p.Ile2704Thr) c.8102T>C (p.Ile2701Thr) c.8093T>C (p.Ile2698Thr) c.7979T>C (p.Ile2660Thr) c.7814T>C (p.Ile2605Thr) c.5963T>C (p.Ile1988Thr) c.3653T>C (p.Ile1218Thr) n.8352T>C | |
18 | g.23921492T>G | CA402061390 | LAMA3 | c.3257T>G (p.Ile1086Arg) c.8084T>G (p.Ile2695Arg) c.4679T>G (p.Ile1560Arg) c.7916T>G (p.Ile2639Arg) c.2862T>G c.3089T>G (p.Ile1030Arg) n.2662T>G c.8111T>G (p.Ile2704Arg) c.8102T>G (p.Ile2701Arg) c.8093T>G (p.Ile2698Arg) c.7979T>G (p.Ile2660Arg) c.7814T>G (p.Ile2605Arg) c.5963T>G (p.Ile1988Arg) c.3653T>G (p.Ile1218Arg) n.8352T>G | |
18 | g.23921493A>C | CA503340400 | LAMA3 | c.3258A>C (p.Ile1086=) c.8085A>C (p.Ile2695=) c.4680A>C (p.Ile1560=) c.7917A>C (p.Ile2639=) c.2863A>C c.3090A>C (p.Ile1030=) n.2663A>C c.8112A>C (p.Ile2704=) c.8103A>C (p.Ile2701=) c.8094A>C (p.Ile2698=) c.7980A>C (p.Ile2660=) c.7815A>C (p.Ile2605=) c.5964A>C (p.Ile1988=) c.3654A>C (p.Ile1218=) n.8353A>C | |
18 | g.23921493A>G | CA402061394 | LAMA3 | c.3258A>G (p.Ile1086Met) c.8085A>G (p.Ile2695Met) c.4680A>G (p.Ile1560Met) c.7917A>G (p.Ile2639Met) c.2863A>G c.3090A>G (p.Ile1030Met) n.2663A>G c.8112A>G (p.Ile2704Met) c.8103A>G (p.Ile2701Met) c.8094A>G (p.Ile2698Met) c.7980A>G (p.Ile2660Met) c.7815A>G (p.Ile2605Met) c.5964A>G (p.Ile1988Met) c.3654A>G (p.Ile1218Met) n.8353A>G | |
18 | g.23921493A>T | CA503340402 | LAMA3 | c.3258A>T (p.Ile1086=) c.8085A>T (p.Ile2695=) c.4680A>T (p.Ile1560=) c.7917A>T (p.Ile2639=) c.2863A>T c.3090A>T (p.Ile1030=) n.2663A>T c.8112A>T (p.Ile2704=) c.8103A>T (p.Ile2701=) c.8094A>T (p.Ile2698=) c.7980A>T (p.Ile2660=) c.7815A>T (p.Ile2605=) c.5964A>T (p.Ile1988=) c.3654A>T (p.Ile1218=) n.8353A>T | |
18 | g.23921494A= | CA2290331863 | LAMA3 | c.3259A= (p.Asn1087=) c.8086A= (p.Asn2696=) c.4681A= (p.Asn1561=) c.7918A= (p.Asn2640=) c.2864A= c.3091A= (p.Asn1031=) n.2664A= c.8113A= (p.Asn2705=) c.8104A= (p.Asn2702=) c.8095A= (p.Asn2699=) c.7981A= (p.Asn2661=) c.7816A= (p.Asn2606=) c.5965A= (p.Asn1989=) c.3655A= (p.Asn1219=) n.8354A= | |
18 | g.23921494A>C | CA8916832 | LAMA3 | c.3259A>C (p.Asn1087His) c.8086A>C (p.Asn2696His) c.4681A>C (p.Asn1561His) c.7918A>C (p.Asn2640His) c.2864A>C c.3091A>C (p.Asn1031His) n.2664A>C c.8113A>C (p.Asn2705His) c.8104A>C (p.Asn2702His) c.8095A>C (p.Asn2699His) c.7981A>C (p.Asn2661His) c.7816A>C (p.Asn2606His) c.5965A>C (p.Asn1989His) c.3655A>C (p.Asn1219His) n.8354A>C | dbSNP ExAC gnomAD v4 |
18 | g.23921494A>G | CA402061397 | LAMA3 | c.3259A>G (p.Asn1087Asp) c.8086A>G (p.Asn2696Asp) c.4681A>G (p.Asn1561Asp) c.7918A>G (p.Asn2640Asp) c.2864A>G c.3091A>G (p.Asn1031Asp) n.2664A>G c.8113A>G (p.Asn2705Asp) c.8104A>G (p.Asn2702Asp) c.8095A>G (p.Asn2699Asp) c.7981A>G (p.Asn2661Asp) c.7816A>G (p.Asn2606Asp) c.5965A>G (p.Asn1989Asp) c.3655A>G (p.Asn1219Asp) n.8354A>G | |
18 | g.23921494A>T | CA402061400 | LAMA3 | c.3259A>T (p.Asn1087Tyr) c.8086A>T (p.Asn2696Tyr) c.4681A>T (p.Asn1561Tyr) c.7918A>T (p.Asn2640Tyr) c.2864A>T c.3091A>T (p.Asn1031Tyr) n.2664A>T c.8113A>T (p.Asn2705Tyr) c.8104A>T (p.Asn2702Tyr) c.8095A>T (p.Asn2699Tyr) c.7981A>T (p.Asn2661Tyr) c.7816A>T (p.Asn2606Tyr) c.5965A>T (p.Asn1989Tyr) c.3655A>T (p.Asn1219Tyr) n.8354A>T | |
18 | g.23921495A>C | CA402061401 | LAMA3 | c.3260A>C (p.Asn1087Thr) c.8087A>C (p.Asn2696Thr) c.4682A>C (p.Asn1561Thr) c.7919A>C (p.Asn2640Thr) c.2865A>C c.3092A>C (p.Asn1031Thr) n.2665A>C c.8114A>C (p.Asn2705Thr) c.8105A>C (p.Asn2702Thr) c.8096A>C (p.Asn2699Thr) c.7982A>C (p.Asn2661Thr) c.7817A>C (p.Asn2606Thr) c.5966A>C (p.Asn1989Thr) c.3656A>C (p.Asn1219Thr) n.8355A>C | |
18 | g.23921495A>G | CA402061402 | LAMA3 | c.3260A>G (p.Asn1087Ser) c.8087A>G (p.Asn2696Ser) c.4682A>G (p.Asn1561Ser) c.7919A>G (p.Asn2640Ser) c.2865A>G c.3092A>G (p.Asn1031Ser) n.2665A>G c.8114A>G (p.Asn2705Ser) c.8105A>G (p.Asn2702Ser) c.8096A>G (p.Asn2699Ser) c.7982A>G (p.Asn2661Ser) c.7817A>G (p.Asn2606Ser) c.5966A>G (p.Asn1989Ser) c.3656A>G (p.Asn1219Ser) n.8355A>G | COSMIC |
18 | g.23921495A>T | CA402061403 | LAMA3 | c.3260A>T (p.Asn1087Ile) c.8087A>T (p.Asn2696Ile) c.4682A>T (p.Asn1561Ile) c.7919A>T (p.Asn2640Ile) c.2865A>T c.3092A>T (p.Asn1031Ile) n.2665A>T c.8114A>T (p.Asn2705Ile) c.8105A>T (p.Asn2702Ile) c.8096A>T (p.Asn2699Ile) c.7982A>T (p.Asn2661Ile) c.7817A>T (p.Asn2606Ile) c.5966A>T (p.Asn1989Ile) c.3656A>T (p.Asn1219Ile) n.8355A>T | |
18 | g.23921495_23921498delinsTGC | CA2573054633 | LAMA3 | c.3260_3263delinsTGC (p.Asn1087MetfsTer8) c.8087_8090delinsTGC (p.Asn2696MetfsTer8) c.4682_4685delinsTGC (p.Asn1561MetfsTer8) c.7919_7922delinsTGC (p.Asn2640MetfsTer8) c.2865_2868delinsTGC c.3092_3095delinsTGC (p.Asn1031MetfsTer8) n.2665_2668delinsTGC c.8114_8117delinsTGC (p.Asn2705MetfsTer8) c.8105_8108delinsTGC (p.Asn2702MetfsTer8) c.8096_8099delinsTGC (p.Asn2699MetfsTer8) c.7982_7985delinsTGC (p.Asn2661MetfsTer8) c.7817_7820delinsTGC (p.Asn2606MetfsTer8) c.5966_5969delinsTGC (p.Asn1989MetfsTer8) c.3656_3659delinsTGC (p.Asn1219MetfsTer8) n.8355_8358delinsTGC | ClinVar dbSNP |
18 | g.23921496T>A | CA402061405 | LAMA3 | c.3261T>A (p.Asn1087Lys) c.8088T>A (p.Asn2696Lys) c.4683T>A (p.Asn1561Lys) c.7920T>A (p.Asn2640Lys) c.2866T>A c.3093T>A (p.Asn1031Lys) n.2666T>A c.8115T>A (p.Asn2705Lys) c.8106T>A (p.Asn2702Lys) c.8097T>A (p.Asn2699Lys) c.7983T>A (p.Asn2661Lys) c.7818T>A (p.Asn2606Lys) c.5967T>A (p.Asn1989Lys) c.3657T>A (p.Asn1219Lys) n.8356T>A | |
18 | g.23921496T>C | CA503340467 | LAMA3 | c.3261T>C (p.Asn1087=) c.8088T>C (p.Asn2696=) c.4683T>C (p.Asn1561=) c.7920T>C (p.Asn2640=) c.2866T>C c.3093T>C (p.Asn1031=) n.2666T>C c.8115T>C (p.Asn2705=) c.8106T>C (p.Asn2702=) c.8097T>C (p.Asn2699=) c.7983T>C (p.Asn2661=) c.7818T>C (p.Asn2606=) c.5967T>C (p.Asn1989=) c.3657T>C (p.Asn1219=) n.8356T>C | gnomAD v4 |
18 | g.23921496T>G | CA402061406 | LAMA3 | c.3261T>G (p.Asn1087Lys) c.8088T>G (p.Asn2696Lys) c.4683T>G (p.Asn1561Lys) c.7920T>G (p.Asn2640Lys) c.2866T>G c.3093T>G (p.Asn1031Lys) n.2666T>G c.8115T>G (p.Asn2705Lys) c.8106T>G (p.Asn2702Lys) c.8097T>G (p.Asn2699Lys) c.7983T>G (p.Asn2661Lys) c.7818T>G (p.Asn2606Lys) c.5967T>G (p.Asn1989Lys) c.3657T>G (p.Asn1219Lys) n.8356T>G | |
18 | g.23921497G>A | CA402061409 | LAMA3 | c.3262G>A (p.Val1088Met) c.8089G>A (p.Val2697Met) c.4684G>A (p.Val1562Met) c.7921G>A (p.Val2641Met) c.2867G>A c.3094G>A (p.Val1032Met) n.2667G>A c.8116G>A (p.Val2706Met) c.8107G>A (p.Val2703Met) c.8098G>A (p.Val2700Met) c.7984G>A (p.Val2662Met) c.7819G>A (p.Val2607Met) c.5968G>A (p.Val1990Met) c.3658G>A (p.Val1220Met) n.8357G>A | gnomAD v4 |
18 | g.23921497G>C | CA402061410 | LAMA3 | c.3262G>C (p.Val1088Leu) c.8089G>C (p.Val2697Leu) c.4684G>C (p.Val1562Leu) c.7921G>C (p.Val2641Leu) c.2867G>C c.3094G>C (p.Val1032Leu) n.2667G>C c.8116G>C (p.Val2706Leu) c.8107G>C (p.Val2703Leu) c.8098G>C (p.Val2700Leu) c.7984G>C (p.Val2662Leu) c.7819G>C (p.Val2607Leu) c.5968G>C (p.Val1990Leu) c.3658G>C (p.Val1220Leu) n.8357G>C | |
18 | g.23921497G>T | CA402061412 | LAMA3 | c.3262G>T (p.Val1088Leu) c.8089G>T (p.Val2697Leu) c.4684G>T (p.Val1562Leu) c.7921G>T (p.Val2641Leu) c.2867G>T c.3094G>T (p.Val1032Leu) n.2667G>T c.8116G>T (p.Val2706Leu) c.8107G>T (p.Val2703Leu) c.8098G>T (p.Val2700Leu) c.7984G>T (p.Val2662Leu) c.7819G>T (p.Val2607Leu) c.5968G>T (p.Val1990Leu) c.3658G>T (p.Val1220Leu) n.8357G>T | |
18 | g.23921498T>A | CA402061414 | LAMA3 | c.3263T>A (p.Val1088Glu) c.8090T>A (p.Val2697Glu) c.4685T>A (p.Val1562Glu) c.7922T>A (p.Val2641Glu) c.2868T>A c.3095T>A (p.Val1032Glu) n.2668T>A c.8117T>A (p.Val2706Glu) c.8108T>A (p.Val2703Glu) c.8099T>A (p.Val2700Glu) c.7985T>A (p.Val2662Glu) c.7820T>A (p.Val2607Glu) c.5969T>A (p.Val1990Glu) c.3659T>A (p.Val1220Glu) n.8358T>A | |
18 | g.23921498T>C | CA402061418 | LAMA3 | c.3263T>C (p.Val1088Ala) c.8090T>C (p.Val2697Ala) c.4685T>C (p.Val1562Ala) c.7922T>C (p.Val2641Ala) c.2868T>C c.3095T>C (p.Val1032Ala) n.2668T>C c.8117T>C (p.Val2706Ala) c.8108T>C (p.Val2703Ala) c.8099T>C (p.Val2700Ala) c.7985T>C (p.Val2662Ala) c.7820T>C (p.Val2607Ala) c.5969T>C (p.Val1990Ala) c.3659T>C (p.Val1220Ala) n.8358T>C | |
18 | g.23921498T>G | CA402061416 | LAMA3 | c.3263T>G (p.Val1088Gly) c.8090T>G (p.Val2697Gly) c.4685T>G (p.Val1562Gly) c.7922T>G (p.Val2641Gly) c.2868T>G c.3095T>G (p.Val1032Gly) n.2668T>G c.8117T>G (p.Val2706Gly) c.8108T>G (p.Val2703Gly) c.8099T>G (p.Val2700Gly) c.7985T>G (p.Val2662Gly) c.7820T>G (p.Val2607Gly) c.5969T>G (p.Val1990Gly) c.3659T>G (p.Val1220Gly) n.8358T>G | |
18 | g.23921499G>A | CA503340470 | LAMA3 | c.3264G>A (p.Val1088=) c.8091G>A (p.Val2697=) c.4686G>A (p.Val1562=) c.7923G>A (p.Val2641=) c.2869G>A c.3096G>A (p.Val1032=) n.2669G>A c.8118G>A (p.Val2706=) c.8109G>A (p.Val2703=) c.8100G>A (p.Val2700=) c.7986G>A (p.Val2662=) c.7821G>A (p.Val2607=) c.5970G>A (p.Val1990=) c.3660G>A (p.Val1220=) n.8359G>A | |
18 | g.23921499G>C | CA503340469 | LAMA3 | c.3264G>C (p.Val1088=) c.8091G>C (p.Val2697=) c.4686G>C (p.Val1562=) c.7923G>C (p.Val2641=) c.2869G>C c.3096G>C (p.Val1032=) n.2669G>C c.8118G>C (p.Val2706=) c.8109G>C (p.Val2703=) c.8100G>C (p.Val2700=) c.7986G>C (p.Val2662=) c.7821G>C (p.Val2607=) c.5970G>C (p.Val1990=) c.3660G>C (p.Val1220=) n.8359G>C | |
18 | g.23921499G>T | CA503340468 | LAMA3 | c.3264G>T (p.Val1088=) c.8091G>T (p.Val2697=) c.4686G>T (p.Val1562=) c.7923G>T (p.Val2641=) c.2869G>T c.3096G>T (p.Val1032=) n.2669G>T c.8118G>T (p.Val2706=) c.8109G>T (p.Val2703=) c.8100G>T (p.Val2700=) c.7986G>T (p.Val2662=) c.7821G>T (p.Val2607=) c.5970G>T (p.Val1990=) c.3660G>T (p.Val1220=) n.8359G>T | ClinVar dbSNP |
18 | g.23921500G>A | CA402061421 | LAMA3 | c.3265G>A (p.Asp1089Asn) c.8092G>A (p.Asp2698Asn) c.4687G>A (p.Asp1563Asn) c.7924G>A (p.Asp2642Asn) c.2870G>A c.3097G>A (p.Asp1033Asn) n.2670G>A c.8119G>A (p.Asp2707Asn) c.8110G>A (p.Asp2704Asn) c.8101G>A (p.Asp2701Asn) c.7987G>A (p.Asp2663Asn) c.7822G>A (p.Asp2608Asn) c.5971G>A (p.Asp1991Asn) c.3661G>A (p.Asp1221Asn) n.8360G>A | |
18 | g.23921500G>C | CA402061423 | LAMA3 | c.3265G>C (p.Asp1089His) c.8092G>C (p.Asp2698His) c.4687G>C (p.Asp1563His) c.7924G>C (p.Asp2642His) c.2870G>C c.3097G>C (p.Asp1033His) n.2670G>C c.8119G>C (p.Asp2707His) c.8110G>C (p.Asp2704His) c.8101G>C (p.Asp2701His) c.7987G>C (p.Asp2663His) c.7822G>C (p.Asp2608His) c.5971G>C (p.Asp1991His) c.3661G>C (p.Asp1221His) n.8360G>C | |
18 | g.23921500G>T | CA402061424 | LAMA3 | c.3265G>T (p.Asp1089Tyr) c.8092G>T (p.Asp2698Tyr) c.4687G>T (p.Asp1563Tyr) c.7924G>T (p.Asp2642Tyr) c.2870G>T c.3097G>T (p.Asp1033Tyr) n.2670G>T c.8119G>T (p.Asp2707Tyr) c.8110G>T (p.Asp2704Tyr) c.8101G>T (p.Asp2701Tyr) c.7987G>T (p.Asp2663Tyr) c.7822G>T (p.Asp2608Tyr) c.5971G>T (p.Asp1991Tyr) c.3661G>T (p.Asp1221Tyr) n.8360G>T | |
18 | g.23921501A>C | CA402061427 | LAMA3 | c.3266A>C (p.Asp1089Ala) c.8093A>C (p.Asp2698Ala) c.4688A>C (p.Asp1563Ala) c.7925A>C (p.Asp2642Ala) c.2871A>C c.3098A>C (p.Asp1033Ala) n.2671A>C c.8120A>C (p.Asp2707Ala) c.8111A>C (p.Asp2704Ala) c.8102A>C (p.Asp2701Ala) c.7988A>C (p.Asp2663Ala) c.7823A>C (p.Asp2608Ala) c.5972A>C (p.Asp1991Ala) c.3662A>C (p.Asp1221Ala) n.8361A>C | |
18 | g.23921501A>G | CA402061429 | LAMA3 | c.3266A>G (p.Asp1089Gly) c.8093A>G (p.Asp2698Gly) c.4688A>G (p.Asp1563Gly) c.7925A>G (p.Asp2642Gly) c.2871A>G c.3098A>G (p.Asp1033Gly) n.2671A>G c.8120A>G (p.Asp2707Gly) c.8111A>G (p.Asp2704Gly) c.8102A>G (p.Asp2701Gly) c.7988A>G (p.Asp2663Gly) c.7823A>G (p.Asp2608Gly) c.5972A>G (p.Asp1991Gly) c.3662A>G (p.Asp1221Gly) n.8361A>G | |
18 | g.23921501A>T | CA402061430 | LAMA3 | c.3266A>T (p.Asp1089Val) c.8093A>T (p.Asp2698Val) c.4688A>T (p.Asp1563Val) c.7925A>T (p.Asp2642Val) c.2871A>T c.3098A>T (p.Asp1033Val) n.2671A>T c.8120A>T (p.Asp2707Val) c.8111A>T (p.Asp2704Val) c.8102A>T (p.Asp2701Val) c.7988A>T (p.Asp2663Val) c.7823A>T (p.Asp2608Val) c.5972A>T (p.Asp1991Val) c.3662A>T (p.Asp1221Val) n.8361A>T |