| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23928148C>A | CA503340619 | LAMA3 | c.3376C>A (p.Arg1126=) c.8203C>A (p.Arg2735=) c.4798C>A (p.Arg1600=) c.8035C>A (p.Arg2679=) c.2981C>A c.3208C>A (p.Arg1070=) n.2781C>A c.8230C>A (p.Arg2744=) c.8221C>A (p.Arg2741=) c.8212C>A (p.Arg2738=) c.8098C>A (p.Arg2700=) c.7933C>A (p.Arg2645=) c.6082C>A (p.Arg2028=) c.3772C>A (p.Arg1258=) n.8471C>A | COSMIC COSMIC |
| 18 | g.23928148C= | CA2290334605 | LAMA3 | c.3376C= (p.Arg1126=) c.8203C= (p.Arg2735=) c.4798C= (p.Arg1600=) c.8035C= (p.Arg2679=) c.2981C= c.3208C= (p.Arg1070=) n.2781C= c.8230C= (p.Arg2744=) c.8221C= (p.Arg2741=) c.8212C= (p.Arg2738=) c.8098C= (p.Arg2700=) c.7933C= (p.Arg2645=) c.6082C= (p.Arg2028=) c.3772C= (p.Arg1258=) n.8471C= | |
| 18 | g.23928148C>G | CA402062989 | LAMA3 | c.3376C>G (p.Arg1126Gly) c.8203C>G (p.Arg2735Gly) c.4798C>G (p.Arg1600Gly) c.8035C>G (p.Arg2679Gly) c.2981C>G c.3208C>G (p.Arg1070Gly) n.2781C>G c.8230C>G (p.Arg2744Gly) c.8221C>G (p.Arg2741Gly) c.8212C>G (p.Arg2738Gly) c.8098C>G (p.Arg2700Gly) c.7933C>G (p.Arg2645Gly) c.6082C>G (p.Arg2028Gly) c.3772C>G (p.Arg1258Gly) n.8471C>G | dbSNP |
| 18 | g.23928148C>T | CA8916873 | LAMA3 | c.3376C>T (p.Arg1126Ter) c.8203C>T (p.Arg2735Ter) c.4798C>T (p.Arg1600Ter) c.8035C>T (p.Arg2679Ter) c.2981C>T c.3208C>T (p.Arg1070Ter) n.2781C>T c.8230C>T (p.Arg2744Ter) c.8221C>T (p.Arg2741Ter) c.8212C>T (p.Arg2738Ter) c.8098C>T (p.Arg2700Ter) c.7933C>T (p.Arg2645Ter) c.6082C>T (p.Arg2028Ter) c.3772C>T (p.Arg1258Ter) n.8471C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 18 | g.23928149G>A | CA8916874 | LAMA3 | c.3377G>A (p.Arg1126Gln) c.8204G>A (p.Arg2735Gln) c.4799G>A (p.Arg1600Gln) c.8036G>A (p.Arg2679Gln) c.2982G>A c.3209G>A (p.Arg1070Gln) n.2782G>A c.8231G>A (p.Arg2744Gln) c.8222G>A (p.Arg2741Gln) c.8213G>A (p.Arg2738Gln) c.8099G>A (p.Arg2700Gln) c.7934G>A (p.Arg2645Gln) c.6083G>A (p.Arg2028Gln) c.3773G>A (p.Arg1258Gln) n.8472G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23928149G>C | CA402062995 | LAMA3 | c.3377G>C (p.Arg1126Pro) c.8204G>C (p.Arg2735Pro) c.4799G>C (p.Arg1600Pro) c.8036G>C (p.Arg2679Pro) c.2982G>C c.3209G>C (p.Arg1070Pro) n.2782G>C c.8231G>C (p.Arg2744Pro) c.8222G>C (p.Arg2741Pro) c.8213G>C (p.Arg2738Pro) c.8099G>C (p.Arg2700Pro) c.7934G>C (p.Arg2645Pro) c.6083G>C (p.Arg2028Pro) c.3773G>C (p.Arg1258Pro) n.8472G>C | |
| 18 | g.23928149G= | CA2290334606 | LAMA3 | c.3377G= (p.Arg1126=) c.8204G= (p.Arg2735=) c.4799G= (p.Arg1600=) c.8036G= (p.Arg2679=) c.2982G= c.3209G= (p.Arg1070=) n.2782G= c.8231G= (p.Arg2744=) c.8222G= (p.Arg2741=) c.8213G= (p.Arg2738=) c.8099G= (p.Arg2700=) c.7934G= (p.Arg2645=) c.6083G= (p.Arg2028=) c.3773G= (p.Arg1258=) n.8472G= | |
| 18 | g.23928149G>T | CA402062993 | LAMA3 | c.3377G>T (p.Arg1126Leu) c.8204G>T (p.Arg2735Leu) c.4799G>T (p.Arg1600Leu) c.8036G>T (p.Arg2679Leu) c.2982G>T c.3209G>T (p.Arg1070Leu) n.2782G>T c.8231G>T (p.Arg2744Leu) c.8222G>T (p.Arg2741Leu) c.8213G>T (p.Arg2738Leu) c.8099G>T (p.Arg2700Leu) c.7934G>T (p.Arg2645Leu) c.6083G>T (p.Arg2028Leu) c.3773G>T (p.Arg1258Leu) n.8472G>T | |
| 18 | g.23928150A>C | CA503340620 | LAMA3 | c.3378A>C (p.Arg1126=) c.8205A>C (p.Arg2735=) c.4800A>C (p.Arg1600=) c.8037A>C (p.Arg2679=) c.2983A>C c.3210A>C (p.Arg1070=) n.2783A>C c.8232A>C (p.Arg2744=) c.8223A>C (p.Arg2741=) c.8214A>C (p.Arg2738=) c.8100A>C (p.Arg2700=) c.7935A>C (p.Arg2645=) c.6084A>C (p.Arg2028=) c.3774A>C (p.Arg1258=) n.8473A>C | |
| 18 | g.23928150A>G | CA503340621 | LAMA3 | c.3378A>G (p.Arg1126=) c.8205A>G (p.Arg2735=) c.4800A>G (p.Arg1600=) c.8037A>G (p.Arg2679=) c.2983A>G c.3210A>G (p.Arg1070=) n.2783A>G c.8232A>G (p.Arg2744=) c.8223A>G (p.Arg2741=) c.8214A>G (p.Arg2738=) c.8100A>G (p.Arg2700=) c.7935A>G (p.Arg2645=) c.6084A>G (p.Arg2028=) c.3774A>G (p.Arg1258=) n.8473A>G | |
| 18 | g.23928150A>T | CA503340622 | LAMA3 | c.3378A>T (p.Arg1126=) c.8205A>T (p.Arg2735=) c.4800A>T (p.Arg1600=) c.8037A>T (p.Arg2679=) c.2983A>T c.3210A>T (p.Arg1070=) n.2783A>T c.8232A>T (p.Arg2744=) c.8223A>T (p.Arg2741=) c.8214A>T (p.Arg2738=) c.8100A>T (p.Arg2700=) c.7935A>T (p.Arg2645=) c.6084A>T (p.Arg2028=) c.3774A>T (p.Arg1258=) n.8473A>T | |
| 18 | g.23928151G>A | CA402063000 | LAMA3 | c.3379G>A (p.Gly1127Ser) c.8206G>A (p.Gly2736Ser) c.4801G>A (p.Gly1601Ser) c.8038G>A (p.Gly2680Ser) c.2984G>A c.3211G>A (p.Gly1071Ser) n.2784G>A c.8233G>A (p.Gly2745Ser) c.8224G>A (p.Gly2742Ser) c.8215G>A (p.Gly2739Ser) c.8101G>A (p.Gly2701Ser) c.7936G>A (p.Gly2646Ser) c.6085G>A (p.Gly2029Ser) c.3775G>A (p.Gly1259Ser) n.8474G>A | |
| 18 | g.23928151G>C | CA402063001 | LAMA3 | c.3379G>C (p.Gly1127Arg) c.8206G>C (p.Gly2736Arg) c.4801G>C (p.Gly1601Arg) c.8038G>C (p.Gly2680Arg) c.2984G>C c.3211G>C (p.Gly1071Arg) n.2784G>C c.8233G>C (p.Gly2745Arg) c.8224G>C (p.Gly2742Arg) c.8215G>C (p.Gly2739Arg) c.8101G>C (p.Gly2701Arg) c.7936G>C (p.Gly2646Arg) c.6085G>C (p.Gly2029Arg) c.3775G>C (p.Gly1259Arg) n.8474G>C | |
| 18 | g.23928151G>T | CA402063004 | LAMA3 | c.3379G>T (p.Gly1127Cys) c.8206G>T (p.Gly2736Cys) c.4801G>T (p.Gly1601Cys) c.8038G>T (p.Gly2680Cys) c.2984G>T c.3211G>T (p.Gly1071Cys) n.2784G>T c.8233G>T (p.Gly2745Cys) c.8224G>T (p.Gly2742Cys) c.8215G>T (p.Gly2739Cys) c.8101G>T (p.Gly2701Cys) c.7936G>T (p.Gly2646Cys) c.6085G>T (p.Gly2029Cys) c.3775G>T (p.Gly1259Cys) n.8474G>T | |
| 18 | g.23928152G>A | CA402063007 | LAMA3 | c.3380G>A (p.Gly1127Asp) c.8207G>A (p.Gly2736Asp) c.4802G>A (p.Gly1601Asp) c.8039G>A (p.Gly2680Asp) c.2985G>A c.3212G>A (p.Gly1071Asp) n.2785G>A c.8234G>A (p.Gly2745Asp) c.8225G>A (p.Gly2742Asp) c.8216G>A (p.Gly2739Asp) c.8102G>A (p.Gly2701Asp) c.7937G>A (p.Gly2646Asp) c.6086G>A (p.Gly2029Asp) c.3776G>A (p.Gly1259Asp) n.8475G>A | |
| 18 | g.23928152G>C | CA402063009 | LAMA3 | c.3380G>C (p.Gly1127Ala) c.8207G>C (p.Gly2736Ala) c.4802G>C (p.Gly1601Ala) c.8039G>C (p.Gly2680Ala) c.2985G>C c.3212G>C (p.Gly1071Ala) n.2785G>C c.8234G>C (p.Gly2745Ala) c.8225G>C (p.Gly2742Ala) c.8216G>C (p.Gly2739Ala) c.8102G>C (p.Gly2701Ala) c.7937G>C (p.Gly2646Ala) c.6086G>C (p.Gly2029Ala) c.3776G>C (p.Gly1259Ala) n.8475G>C | |
| 18 | g.23928152G>T | CA402063011 | LAMA3 | c.3380G>T (p.Gly1127Val) c.8207G>T (p.Gly2736Val) c.4802G>T (p.Gly1601Val) c.8039G>T (p.Gly2680Val) c.2985G>T c.3212G>T (p.Gly1071Val) n.2785G>T c.8234G>T (p.Gly2745Val) c.8225G>T (p.Gly2742Val) c.8216G>T (p.Gly2739Val) c.8102G>T (p.Gly2701Val) c.7937G>T (p.Gly2646Val) c.6086G>T (p.Gly2029Val) c.3776G>T (p.Gly1259Val) n.8475G>T | |
| 18 | g.23928153C>A | CA503340623 | LAMA3 | c.3381C>A (p.Gly1127=) c.8208C>A (p.Gly2736=) c.4803C>A (p.Gly1601=) c.8040C>A (p.Gly2680=) c.2986C>A c.3213C>A (p.Gly1071=) n.2786C>A c.8235C>A (p.Gly2745=) c.8226C>A (p.Gly2742=) c.8217C>A (p.Gly2739=) c.8103C>A (p.Gly2701=) c.7938C>A (p.Gly2646=) c.6087C>A (p.Gly2029=) c.3777C>A (p.Gly1259=) n.8476C>A | |
| 18 | g.23928153C>G | CA503340624 | LAMA3 | c.3381C>G (p.Gly1127=) c.8208C>G (p.Gly2736=) c.4803C>G (p.Gly1601=) c.8040C>G (p.Gly2680=) c.2986C>G c.3213C>G (p.Gly1071=) n.2786C>G c.8235C>G (p.Gly2745=) c.8226C>G (p.Gly2742=) c.8217C>G (p.Gly2739=) c.8103C>G (p.Gly2701=) c.7938C>G (p.Gly2646=) c.6087C>G (p.Gly2029=) c.3777C>G (p.Gly1259=) n.8476C>G | |
| 18 | g.23928153C>T | CA503340625 | LAMA3 | c.3381C>T (p.Gly1127=) c.8208C>T (p.Gly2736=) c.4803C>T (p.Gly1601=) c.8040C>T (p.Gly2680=) c.2986C>T c.3213C>T (p.Gly1071=) n.2786C>T c.8235C>T (p.Gly2745=) c.8226C>T (p.Gly2742=) c.8217C>T (p.Gly2739=) c.8103C>T (p.Gly2701=) c.7938C>T (p.Gly2646=) c.6087C>T (p.Gly2029=) c.3777C>T (p.Gly1259=) n.8476C>T | |
| 18 | g.23928154T>A | CA402063015 | LAMA3 | c.3382T>A (p.Cys1128Ser) c.8209T>A (p.Cys2737Ser) c.4804T>A (p.Cys1602Ser) c.8041T>A (p.Cys2681Ser) c.2987T>A c.3214T>A (p.Cys1072Ser) n.2787T>A c.8236T>A (p.Cys2746Ser) c.8227T>A (p.Cys2743Ser) c.8218T>A (p.Cys2740Ser) c.8104T>A (p.Cys2702Ser) c.7939T>A (p.Cys2647Ser) c.6088T>A (p.Cys2030Ser) c.3778T>A (p.Cys1260Ser) n.8477T>A | |
| 18 | g.23928154T>C | CA402063016 | LAMA3 | c.3382T>C (p.Cys1128Arg) c.8209T>C (p.Cys2737Arg) c.4804T>C (p.Cys1602Arg) c.8041T>C (p.Cys2681Arg) c.2987T>C c.3214T>C (p.Cys1072Arg) n.2787T>C c.8236T>C (p.Cys2746Arg) c.8227T>C (p.Cys2743Arg) c.8218T>C (p.Cys2740Arg) c.8104T>C (p.Cys2702Arg) c.7939T>C (p.Cys2647Arg) c.6088T>C (p.Cys2030Arg) c.3778T>C (p.Cys1260Arg) n.8477T>C | gnomAD v4 |
| 18 | g.23928154T>G | CA402063018 | LAMA3 | c.3382T>G (p.Cys1128Gly) c.8209T>G (p.Cys2737Gly) c.4804T>G (p.Cys1602Gly) c.8041T>G (p.Cys2681Gly) c.2987T>G c.3214T>G (p.Cys1072Gly) n.2787T>G c.8236T>G (p.Cys2746Gly) c.8227T>G (p.Cys2743Gly) c.8218T>G (p.Cys2740Gly) c.8104T>G (p.Cys2702Gly) c.7939T>G (p.Cys2647Gly) c.6088T>G (p.Cys2030Gly) c.3778T>G (p.Cys1260Gly) n.8477T>G | |
| 18 | g.23928155G>A | CA402063021 | LAMA3 | c.3383G>A (p.Cys1128Tyr) c.8210G>A (p.Cys2737Tyr) c.4805G>A (p.Cys1602Tyr) c.8042G>A (p.Cys2681Tyr) c.2988G>A c.3215G>A (p.Cys1072Tyr) n.2788G>A c.8237G>A (p.Cys2746Tyr) c.8228G>A (p.Cys2743Tyr) c.8219G>A (p.Cys2740Tyr) c.8105G>A (p.Cys2702Tyr) c.7940G>A (p.Cys2647Tyr) c.6089G>A (p.Cys2030Tyr) c.3779G>A (p.Cys1260Tyr) n.8478G>A | |
| 18 | g.23928155G>C | CA402063023 | LAMA3 | c.3383G>C (p.Cys1128Ser) c.8210G>C (p.Cys2737Ser) c.4805G>C (p.Cys1602Ser) c.8042G>C (p.Cys2681Ser) c.2988G>C c.3215G>C (p.Cys1072Ser) n.2788G>C c.8237G>C (p.Cys2746Ser) c.8228G>C (p.Cys2743Ser) c.8219G>C (p.Cys2740Ser) c.8105G>C (p.Cys2702Ser) c.7940G>C (p.Cys2647Ser) c.6089G>C (p.Cys2030Ser) c.3779G>C (p.Cys1260Ser) n.8478G>C | gnomAD v4 |
| 18 | g.23928155G>T | CA402063025 | LAMA3 | c.3383G>T (p.Cys1128Phe) c.8210G>T (p.Cys2737Phe) c.4805G>T (p.Cys1602Phe) c.8042G>T (p.Cys2681Phe) c.2988G>T c.3215G>T (p.Cys1072Phe) n.2788G>T c.8237G>T (p.Cys2746Phe) c.8228G>T (p.Cys2743Phe) c.8219G>T (p.Cys2740Phe) c.8105G>T (p.Cys2702Phe) c.7940G>T (p.Cys2647Phe) c.6089G>T (p.Cys2030Phe) c.3779G>T (p.Cys1260Phe) n.8478G>T | |
| 18 | g.23928156C>A | CA402063028 | LAMA3 | c.3384C>A (p.Cys1128Ter) c.8211C>A (p.Cys2737Ter) c.4806C>A (p.Cys1602Ter) c.8043C>A (p.Cys2681Ter) c.2989C>A c.3216C>A (p.Cys1072Ter) n.2789C>A c.8238C>A (p.Cys2746Ter) c.8229C>A (p.Cys2743Ter) c.8220C>A (p.Cys2740Ter) c.8106C>A (p.Cys2702Ter) c.7941C>A (p.Cys2647Ter) c.6090C>A (p.Cys2030Ter) c.3780C>A (p.Cys1260Ter) n.8479C>A | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23928156C= | CA2290334607 | LAMA3 | c.3384C= (p.Cys1128=) c.8211C= (p.Cys2737=) c.4806C= (p.Cys1602=) c.8043C= (p.Cys2681=) c.2989C= c.3216C= (p.Cys1072=) n.2789C= c.8238C= (p.Cys2746=) c.8229C= (p.Cys2743=) c.8220C= (p.Cys2740=) c.8106C= (p.Cys2702=) c.7941C= (p.Cys2647=) c.6090C= (p.Cys2030=) c.3780C= (p.Cys1260=) n.8479C= | |
| 18 | g.23928156C>G | CA402063030 | LAMA3 | c.3384C>G (p.Cys1128Trp) c.8211C>G (p.Cys2737Trp) c.4806C>G (p.Cys1602Trp) c.8043C>G (p.Cys2681Trp) c.2989C>G c.3216C>G (p.Cys1072Trp) n.2789C>G c.8238C>G (p.Cys2746Trp) c.8229C>G (p.Cys2743Trp) c.8220C>G (p.Cys2740Trp) c.8106C>G (p.Cys2702Trp) c.7941C>G (p.Cys2647Trp) c.6090C>G (p.Cys2030Trp) c.3780C>G (p.Cys1260Trp) n.8479C>G | |
| 18 | g.23928156C>T | CA503340626 | LAMA3 | c.3384C>T (p.Cys1128=) c.8211C>T (p.Cys2737=) c.4806C>T (p.Cys1602=) c.8043C>T (p.Cys2681=) c.2989C>T c.3216C>T (p.Cys1072=) n.2789C>T c.8238C>T (p.Cys2746=) c.8229C>T (p.Cys2743=) c.8220C>T (p.Cys2740=) c.8106C>T (p.Cys2702=) c.7941C>T (p.Cys2647=) c.6090C>T (p.Cys2030=) c.3780C>T (p.Cys1260=) n.8479C>T | |
| 18 | g.23928157A= | CA2290334608 | LAMA3 | c.3385A= (p.Met1129=) c.8212A= (p.Met2738=) c.4807A= (p.Met1603=) c.8044A= (p.Met2682=) c.2990A= c.3217A= (p.Met1073=) n.2790A= c.8239A= (p.Met2747=) c.8230A= (p.Met2744=) c.8221A= (p.Met2741=) c.8107A= (p.Met2703=) c.7942A= (p.Met2648=) c.6091A= (p.Met2031=) c.3781A= (p.Met1261=) n.8480A= | |
| 18 | g.23928157A>C | CA402063034 | LAMA3 | c.3385A>C (p.Met1129Leu) c.8212A>C (p.Met2738Leu) c.4807A>C (p.Met1603Leu) c.8044A>C (p.Met2682Leu) c.2990A>C c.3217A>C (p.Met1073Leu) n.2790A>C c.8239A>C (p.Met2747Leu) c.8230A>C (p.Met2744Leu) c.8221A>C (p.Met2741Leu) c.8107A>C (p.Met2703Leu) c.7942A>C (p.Met2648Leu) c.6091A>C (p.Met2031Leu) c.3781A>C (p.Met1261Leu) n.8480A>C | gnomAD v4 |
| 18 | g.23928157A>G | CA297122338 | LAMA3 | c.3385A>G (p.Met1129Val) c.8212A>G (p.Met2738Val) c.4807A>G (p.Met1603Val) c.8044A>G (p.Met2682Val) c.2990A>G c.3217A>G (p.Met1073Val) n.2790A>G c.8239A>G (p.Met2747Val) c.8230A>G (p.Met2744Val) c.8221A>G (p.Met2741Val) c.8107A>G (p.Met2703Val) c.7942A>G (p.Met2648Val) c.6091A>G (p.Met2031Val) c.3781A>G (p.Met1261Val) n.8480A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23928157A>T | CA402063032 | LAMA3 | c.3385A>T (p.Met1129Leu) c.8212A>T (p.Met2738Leu) c.4807A>T (p.Met1603Leu) c.8044A>T (p.Met2682Leu) c.2990A>T c.3217A>T (p.Met1073Leu) n.2790A>T c.8239A>T (p.Met2747Leu) c.8230A>T (p.Met2744Leu) c.8221A>T (p.Met2741Leu) c.8107A>T (p.Met2703Leu) c.7942A>T (p.Met2648Leu) c.6091A>T (p.Met2031Leu) c.3781A>T (p.Met1261Leu) n.8480A>T | |
| 18 | g.23928158T>A | CA402063035 | LAMA3 | c.3386T>A (p.Met1129Lys) c.8213T>A (p.Met2738Lys) c.4808T>A (p.Met1603Lys) c.8045T>A (p.Met2682Lys) c.2991T>A c.3218T>A (p.Met1073Lys) n.2791T>A c.8240T>A (p.Met2747Lys) c.8231T>A (p.Met2744Lys) c.8222T>A (p.Met2741Lys) c.8108T>A (p.Met2703Lys) c.7943T>A (p.Met2648Lys) c.6092T>A (p.Met2031Lys) c.3782T>A (p.Met1261Lys) n.8481T>A | |
| 18 | g.23928158T>C | CA402063036 | LAMA3 | c.3386T>C (p.Met1129Thr) c.8213T>C (p.Met2738Thr) c.4808T>C (p.Met1603Thr) c.8045T>C (p.Met2682Thr) c.2991T>C c.3218T>C (p.Met1073Thr) n.2791T>C c.8240T>C (p.Met2747Thr) c.8231T>C (p.Met2744Thr) c.8222T>C (p.Met2741Thr) c.8108T>C (p.Met2703Thr) c.7943T>C (p.Met2648Thr) c.6092T>C (p.Met2031Thr) c.3782T>C (p.Met1261Thr) n.8481T>C | gnomAD v4 |
| 18 | g.23928158T>G | CA402063037 | LAMA3 | c.3386T>G (p.Met1129Arg) c.8213T>G (p.Met2738Arg) c.4808T>G (p.Met1603Arg) c.8045T>G (p.Met2682Arg) c.2991T>G c.3218T>G (p.Met1073Arg) n.2791T>G c.8240T>G (p.Met2747Arg) c.8231T>G (p.Met2744Arg) c.8222T>G (p.Met2741Arg) c.8108T>G (p.Met2703Arg) c.7943T>G (p.Met2648Arg) c.6092T>G (p.Met2031Arg) c.3782T>G (p.Met1261Arg) n.8481T>G | |
| 18 | g.23928159G>A | CA8916875 | LAMA3 | c.3387G>A (p.Met1129Ile) c.8214G>A (p.Met2738Ile) c.4809G>A (p.Met1603Ile) c.8046G>A (p.Met2682Ile) c.2992G>A c.3219G>A (p.Met1073Ile) n.2792G>A c.8241G>A (p.Met2747Ile) c.8232G>A (p.Met2744Ile) c.8223G>A (p.Met2741Ile) c.8109G>A (p.Met2703Ile) c.7944G>A (p.Met2648Ile) c.6093G>A (p.Met2031Ile) c.3783G>A (p.Met1261Ile) n.8482G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23928159G>C | CA402063040 | LAMA3 | c.3387G>C (p.Met1129Ile) c.8214G>C (p.Met2738Ile) c.4809G>C (p.Met1603Ile) c.8046G>C (p.Met2682Ile) c.2992G>C c.3219G>C (p.Met1073Ile) n.2792G>C c.8241G>C (p.Met2747Ile) c.8232G>C (p.Met2744Ile) c.8223G>C (p.Met2741Ile) c.8109G>C (p.Met2703Ile) c.7944G>C (p.Met2648Ile) c.6093G>C (p.Met2031Ile) c.3783G>C (p.Met1261Ile) n.8482G>C | |
| 18 | g.23928159G= | CA2290334609 | LAMA3 | c.3387G= (p.Met1129=) c.8214G= (p.Met2738=) c.4809G= (p.Met1603=) c.8046G= (p.Met2682=) c.2992G= c.3219G= (p.Met1073=) n.2792G= c.8241G= (p.Met2747=) c.8232G= (p.Met2744=) c.8223G= (p.Met2741=) c.8109G= (p.Met2703=) c.7944G= (p.Met2648=) c.6093G= (p.Met2031=) c.3783G= (p.Met1261=) n.8482G= | |
| 18 | g.23928159G>T | CA402063041 | LAMA3 | c.3387G>T (p.Met1129Ile) c.8214G>T (p.Met2738Ile) c.4809G>T (p.Met1603Ile) c.8046G>T (p.Met2682Ile) c.2992G>T c.3219G>T (p.Met1073Ile) n.2792G>T c.8241G>T (p.Met2747Ile) c.8232G>T (p.Met2744Ile) c.8223G>T (p.Met2741Ile) c.8109G>T (p.Met2703Ile) c.7944G>T (p.Met2648Ile) c.6093G>T (p.Met2031Ile) c.3783G>T (p.Met1261Ile) n.8482G>T | |
| 18 | g.23928160A>C | CA402063042 | LAMA3 | c.3388A>C (p.Lys1130Gln) c.8215A>C (p.Lys2739Gln) c.4810A>C (p.Lys1604Gln) c.8047A>C (p.Lys2683Gln) c.2993A>C c.3220A>C (p.Lys1074Gln) n.2793A>C c.8242A>C (p.Lys2748Gln) c.8233A>C (p.Lys2745Gln) c.8224A>C (p.Lys2742Gln) c.8110A>C (p.Lys2704Gln) c.7945A>C (p.Lys2649Gln) c.6094A>C (p.Lys2032Gln) c.3784A>C (p.Lys1262Gln) n.8483A>C | |
| 18 | g.23928160A>G | CA402063043 | LAMA3 | c.3388A>G (p.Lys1130Glu) c.8215A>G (p.Lys2739Glu) c.4810A>G (p.Lys1604Glu) c.8047A>G (p.Lys2683Glu) c.2993A>G c.3220A>G (p.Lys1074Glu) n.2793A>G c.8242A>G (p.Lys2748Glu) c.8233A>G (p.Lys2745Glu) c.8224A>G (p.Lys2742Glu) c.8110A>G (p.Lys2704Glu) c.7945A>G (p.Lys2649Glu) c.6094A>G (p.Lys2032Glu) c.3784A>G (p.Lys1262Glu) n.8483A>G | |
| 18 | g.23928160A>T | CA402063044 | LAMA3 | c.3388A>T (p.Lys1130Ter) c.8215A>T (p.Lys2739Ter) c.4810A>T (p.Lys1604Ter) c.8047A>T (p.Lys2683Ter) c.2993A>T c.3220A>T (p.Lys1074Ter) n.2793A>T c.8242A>T (p.Lys2748Ter) c.8233A>T (p.Lys2745Ter) c.8224A>T (p.Lys2742Ter) c.8110A>T (p.Lys2704Ter) c.7945A>T (p.Lys2649Ter) c.6094A>T (p.Lys2032Ter) c.3784A>T (p.Lys1262Ter) n.8483A>T | |
| 18 | g.23928161A>C | CA402063045 | LAMA3 | c.3389A>C (p.Lys1130Thr) c.8216A>C (p.Lys2739Thr) c.4811A>C (p.Lys1604Thr) c.8048A>C (p.Lys2683Thr) c.2994A>C c.3221A>C (p.Lys1074Thr) n.2794A>C c.8243A>C (p.Lys2748Thr) c.8234A>C (p.Lys2745Thr) c.8225A>C (p.Lys2742Thr) c.8111A>C (p.Lys2704Thr) c.7946A>C (p.Lys2649Thr) c.6095A>C (p.Lys2032Thr) c.3785A>C (p.Lys1262Thr) n.8484A>C | |
| 18 | g.23928161A>G | CA402063046 | LAMA3 | c.3389A>G (p.Lys1130Arg) c.8216A>G (p.Lys2739Arg) c.4811A>G (p.Lys1604Arg) c.8048A>G (p.Lys2683Arg) c.2994A>G c.3221A>G (p.Lys1074Arg) n.2794A>G c.8243A>G (p.Lys2748Arg) c.8234A>G (p.Lys2745Arg) c.8225A>G (p.Lys2742Arg) c.8111A>G (p.Lys2704Arg) c.7946A>G (p.Lys2649Arg) c.6095A>G (p.Lys2032Arg) c.3785A>G (p.Lys1262Arg) n.8484A>G | |
| 18 | g.23928161A>T | CA402063048 | LAMA3 | c.3389A>T (p.Lys1130Ile) c.8216A>T (p.Lys2739Ile) c.4811A>T (p.Lys1604Ile) c.8048A>T (p.Lys2683Ile) c.2994A>T c.3221A>T (p.Lys1074Ile) n.2794A>T c.8243A>T (p.Lys2748Ile) c.8234A>T (p.Lys2745Ile) c.8225A>T (p.Lys2742Ile) c.8111A>T (p.Lys2704Ile) c.7946A>T (p.Lys2649Ile) c.6095A>T (p.Lys2032Ile) c.3785A>T (p.Lys1262Ile) n.8484A>T | |
| 18 | g.23928162A>C | CA402063052 | LAMA3 | c.3390A>C (p.Lys1130Asn) c.8217A>C (p.Lys2739Asn) c.4812A>C (p.Lys1604Asn) c.8049A>C (p.Lys2683Asn) c.2995A>C c.3222A>C (p.Lys1074Asn) n.2795A>C c.8244A>C (p.Lys2748Asn) c.8235A>C (p.Lys2745Asn) c.8226A>C (p.Lys2742Asn) c.8112A>C (p.Lys2704Asn) c.7947A>C (p.Lys2649Asn) c.6096A>C (p.Lys2032Asn) c.3786A>C (p.Lys1262Asn) n.8485A>C | |
| 18 | g.23928162A>G | CA503340627 | LAMA3 | c.3390A>G (p.Lys1130=) c.8217A>G (p.Lys2739=) c.4812A>G (p.Lys1604=) c.8049A>G (p.Lys2683=) c.2995A>G c.3222A>G (p.Lys1074=) n.2795A>G c.8244A>G (p.Lys2748=) c.8235A>G (p.Lys2745=) c.8226A>G (p.Lys2742=) c.8112A>G (p.Lys2704=) c.7947A>G (p.Lys2649=) c.6096A>G (p.Lys2032=) c.3786A>G (p.Lys1262=) n.8485A>G | |
| 18 | g.23928162A>T | CA402063050 | LAMA3 | c.3390A>T (p.Lys1130Asn) c.8217A>T (p.Lys2739Asn) c.4812A>T (p.Lys1604Asn) c.8049A>T (p.Lys2683Asn) c.2995A>T c.3222A>T (p.Lys1074Asn) n.2795A>T c.8244A>T (p.Lys2748Asn) c.8235A>T (p.Lys2745Asn) c.8226A>T (p.Lys2742Asn) c.8112A>T (p.Lys2704Asn) c.7947A>T (p.Lys2649Asn) c.6096A>T (p.Lys2032Asn) c.3786A>T (p.Lys1262Asn) n.8485A>T |