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| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129481360_129481386delinsAGAATGAGTCCGGCATCATTCTTTTGG | CA1663173754 | LAMA2 | c.7658_7684delinsAGAATGAGTCCGGCATCATTCTTTTGG (p.Lys2553=) c.7934_7960delinsAGAATGAGTCCGGCATCATTCTTTTGG (p.Lys2645=) c.7670_7696delinsAGAATGAGTCCGGCATCATTCTTTTGG (p.Lys2557=) c.7667_7693delinsAGAATGAGTCCGGCATCATTCTTTTGG (p.Lys2556=) c.7922_7948delinsAGAATGAGTCCGGCATCATTCTTTTGG (p.Lys2641=) c.7928_7954delinsAGAATGAGTCCGGCATCATTCTTTTGG (p.Lys2643=) c.7940_7966delinsAGAATGAGTCCGGCATCATTCTTTTGG (p.Lys2647=) c.6065_6091delinsAGAATGAGTCCGGCATCATTCTTTTGG (p.Lys2022=) | |
| 6 | g.129481364_129481389del | CA570205726 | LAMA2 | c.7662_7687del (p.Asn2554LysfsTer9) c.7938_7963del (p.Asn2646LysfsTer9) c.7674_7699del (p.Asn2558LysfsTer9) c.7671_7696del (p.Asn2557LysfsTer9) c.7926_7951del (p.Asn2642LysfsTer9) c.7932_7957del (p.Asn2644LysfsTer9) c.7944_7969del (p.Asn2648LysfsTer9) c.6069_6094del (p.Asn2023LysfsTer9) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129481381T>A | CA365628237 | LAMA2 | c.7679T>A (p.Leu2560His) c.7955T>A (p.Leu2652His) c.7691T>A (p.Leu2564His) c.7688T>A (p.Leu2563His) c.7943T>A (p.Leu2648His) c.7949T>A (p.Leu2650His) c.7961T>A (p.Leu2654His) c.6086T>A (p.Leu2029His) | |
| 6 | g.129481381T>C | CA257207 | LAMA2 | c.7679T>C (p.Leu2560Pro) c.7955T>C (p.Leu2652Pro) c.7691T>C (p.Leu2564Pro) c.7688T>C (p.Leu2563Pro) c.7943T>C (p.Leu2648Pro) c.7949T>C (p.Leu2650Pro) c.7961T>C (p.Leu2654Pro) c.6086T>C (p.Leu2029Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.129481381T>G | CA365628241 | LAMA2 | c.7679T>G (p.Leu2560Arg) c.7955T>G (p.Leu2652Arg) c.7691T>G (p.Leu2564Arg) c.7688T>G (p.Leu2563Arg) c.7943T>G (p.Leu2648Arg) c.7949T>G (p.Leu2650Arg) c.7961T>G (p.Leu2654Arg) c.6086T>G (p.Leu2029Arg) | |
| 6 | g.129481381T= | CA1663173796 | LAMA2 | c.7679T= (p.Leu2560=) c.7955T= (p.Leu2652=) c.7691T= (p.Leu2564=) c.7688T= (p.Leu2563=) c.7943T= (p.Leu2648=) c.7949T= (p.Leu2650=) c.7961T= (p.Leu2654=) c.6086T= (p.Leu2029=) | |
| 6 | g.129481382T>A | CA451934049 | LAMA2 | c.7680T>A (p.Leu2560=) c.7956T>A (p.Leu2652=) c.7692T>A (p.Leu2564=) c.7689T>A (p.Leu2563=) c.7944T>A (p.Leu2648=) c.7950T>A (p.Leu2650=) c.7962T>A (p.Leu2654=) c.6087T>A (p.Leu2029=) | |
| 6 | g.129481382T>C | CA451934051 | LAMA2 | c.7680T>C (p.Leu2560=) c.7956T>C (p.Leu2652=) c.7692T>C (p.Leu2564=) c.7689T>C (p.Leu2563=) c.7944T>C (p.Leu2648=) c.7950T>C (p.Leu2650=) c.7962T>C (p.Leu2654=) c.6087T>C (p.Leu2029=) | |
| 6 | g.129481382T>G | CA451934050 | LAMA2 | c.7680T>G (p.Leu2560=) c.7956T>G (p.Leu2652=) c.7692T>G (p.Leu2564=) c.7689T>G (p.Leu2563=) c.7944T>G (p.Leu2648=) c.7950T>G (p.Leu2650=) c.7962T>G (p.Leu2654=) c.6087T>G (p.Leu2029=) | |
| 6 | g.129481382_129481383insA | CA2695198345 | LAMA2 | c.7680_7681insA (p.Leu2561IlefsTer11) c.7956_7957insA (p.Leu2653IlefsTer11) c.7692_7693insA (p.Leu2565IlefsTer11) c.7689_7690insA (p.Leu2564IlefsTer11) c.7944_7945insA (p.Leu2649IlefsTer11) c.7950_7951insA (p.Leu2651IlefsTer11) c.7962_7963insA (p.Leu2655IlefsTer11) c.6087_6088insA (p.Leu2030IlefsTer11) | ClinVar |
| 6 | g.129481383T>A | CA365628243 | LAMA2 | c.7681T>A (p.Leu2561Met) c.7957T>A (p.Leu2653Met) c.7693T>A (p.Leu2565Met) c.7690T>A (p.Leu2564Met) c.7945T>A (p.Leu2649Met) c.7951T>A (p.Leu2651Met) c.7963T>A (p.Leu2655Met) c.6088T>A (p.Leu2030Met) | |
| 6 | g.129481383T>C | CA3994638 | LAMA2 | c.7681T>C (p.Leu2561=) c.7957T>C (p.Leu2653=) c.7693T>C (p.Leu2565=) c.7690T>C (p.Leu2564=) c.7945T>C (p.Leu2649=) c.7951T>C (p.Leu2651=) c.7963T>C (p.Leu2655=) c.6088T>C (p.Leu2030=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129481383T>G | CA365628248 | LAMA2 | c.7681T>G (p.Leu2561Val) c.7957T>G (p.Leu2653Val) c.7693T>G (p.Leu2565Val) c.7690T>G (p.Leu2564Val) c.7945T>G (p.Leu2649Val) c.7951T>G (p.Leu2651Val) c.7963T>G (p.Leu2655Val) c.6088T>G (p.Leu2030Val) | |
| 6 | g.129481383T= | CA1663173801 | LAMA2 | c.7681T= (p.Leu2561=) c.7957T= (p.Leu2653=) c.7693T= (p.Leu2565=) c.7690T= (p.Leu2564=) c.7945T= (p.Leu2649=) c.7951T= (p.Leu2651=) c.7963T= (p.Leu2655=) c.6088T= (p.Leu2030=) | |
| 6 | g.129481384T>A | CA365628253 | LAMA2 | c.7682T>A (p.Leu2561Ter) c.7958T>A (p.Leu2653Ter) c.7694T>A (p.Leu2565Ter) c.7691T>A (p.Leu2564Ter) c.7946T>A (p.Leu2649Ter) c.7952T>A (p.Leu2651Ter) c.7964T>A (p.Leu2655Ter) c.6089T>A (p.Leu2030Ter) | |
| 6 | g.129481384T>C | CA365628251 | LAMA2 | c.7682T>C (p.Leu2561Ser) c.7958T>C (p.Leu2653Ser) c.7694T>C (p.Leu2565Ser) c.7691T>C (p.Leu2564Ser) c.7946T>C (p.Leu2649Ser) c.7952T>C (p.Leu2651Ser) c.7964T>C (p.Leu2655Ser) c.6089T>C (p.Leu2030Ser) | ClinVar dbSNP |
| 6 | g.129481384T>G | CA365628250 | LAMA2 | c.7682T>G (p.Leu2561Trp) c.7958T>G (p.Leu2653Trp) c.7694T>G (p.Leu2565Trp) c.7691T>G (p.Leu2564Trp) c.7946T>G (p.Leu2649Trp) c.7952T>G (p.Leu2651Trp) c.7964T>G (p.Leu2655Trp) c.6089T>G (p.Leu2030Trp) | |
| 6 | g.129481385G>A | CA451934052 | LAMA2 | c.7683G>A (p.Leu2561=) c.7959G>A (p.Leu2653=) c.7695G>A (p.Leu2565=) c.7692G>A (p.Leu2564=) c.7947G>A (p.Leu2649=) c.7953G>A (p.Leu2651=) c.7965G>A (p.Leu2655=) c.6090G>A (p.Leu2030=) | |
| 6 | g.129481385G>C | CA365628259 | LAMA2 | c.7683G>C (p.Leu2561Phe) c.7959G>C (p.Leu2653Phe) c.7695G>C (p.Leu2565Phe) c.7692G>C (p.Leu2564Phe) c.7947G>C (p.Leu2649Phe) c.7953G>C (p.Leu2651Phe) c.7965G>C (p.Leu2655Phe) c.6090G>C (p.Leu2030Phe) | |
| 6 | g.129481385G>T | CA365628260 | LAMA2 | c.7683G>T (p.Leu2561Phe) c.7959G>T (p.Leu2653Phe) c.7695G>T (p.Leu2565Phe) c.7692G>T (p.Leu2564Phe) c.7947G>T (p.Leu2649Phe) c.7953G>T (p.Leu2651Phe) c.7965G>T (p.Leu2655Phe) c.6090G>T (p.Leu2030Phe) | COSMIC |
| 6 | g.129481386G>A | CA365628263 | LAMA2 | c.7684G>A (p.Gly2562Arg) c.7960G>A (p.Gly2654Arg) c.7696G>A (p.Gly2566Arg) c.7693G>A (p.Gly2565Arg) c.7948G>A (p.Gly2650Arg) c.7954G>A (p.Gly2652Arg) c.7966G>A (p.Gly2656Arg) c.6091G>A (p.Gly2031Arg) | COSMIC |
| 6 | g.129481386G>C | CA365628265 | LAMA2 | c.7684G>C (p.Gly2562Arg) c.7960G>C (p.Gly2654Arg) c.7696G>C (p.Gly2566Arg) c.7693G>C (p.Gly2565Arg) c.7948G>C (p.Gly2650Arg) c.7954G>C (p.Gly2652Arg) c.7966G>C (p.Gly2656Arg) c.6091G>C (p.Gly2031Arg) | |
| 6 | g.129481386G>T | CA365628268 | LAMA2 | c.7684G>T (p.Gly2562Ter) c.7960G>T (p.Gly2654Ter) c.7696G>T (p.Gly2566Ter) c.7693G>T (p.Gly2565Ter) c.7948G>T (p.Gly2650Ter) c.7954G>T (p.Gly2652Ter) c.7966G>T (p.Gly2656Ter) c.6091G>T (p.Gly2031Ter) | |
| 6 | g.129481387G>A | CA365628271 | LAMA2 | c.7685G>A (p.Gly2562Glu) c.7961G>A (p.Gly2654Glu) c.7697G>A (p.Gly2566Glu) c.7694G>A (p.Gly2565Glu) c.7949G>A (p.Gly2650Glu) c.7955G>A (p.Gly2652Glu) c.7967G>A (p.Gly2656Glu) c.6092G>A (p.Gly2031Glu) | gnomAD v4 COSMIC |
| 6 | g.129481387G>C | CA365628273 | LAMA2 | c.7685G>C (p.Gly2562Ala) c.7961G>C (p.Gly2654Ala) c.7697G>C (p.Gly2566Ala) c.7694G>C (p.Gly2565Ala) c.7949G>C (p.Gly2650Ala) c.7955G>C (p.Gly2652Ala) c.7967G>C (p.Gly2656Ala) c.6092G>C (p.Gly2031Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129481387G= | CA1663173804 | LAMA2 | c.7685G= (p.Gly2562=) c.7961G= (p.Gly2654=) c.7697G= (p.Gly2566=) c.7694G= (p.Gly2565=) c.7949G= (p.Gly2650=) c.7955G= (p.Gly2652=) c.7967G= (p.Gly2656=) c.6092G= (p.Gly2031=) | |
| 6 | g.129481387G>T | CA365628274 | LAMA2 | c.7685G>T (p.Gly2562Val) c.7961G>T (p.Gly2654Val) c.7697G>T (p.Gly2566Val) c.7694G>T (p.Gly2565Val) c.7949G>T (p.Gly2650Val) c.7955G>T (p.Gly2652Val) c.7967G>T (p.Gly2656Val) c.6092G>T (p.Gly2031Val) | |
| 6 | g.129481388A>C | CA451934053 | LAMA2 | c.7686A>C (p.Gly2562=) c.7962A>C (p.Gly2654=) c.7698A>C (p.Gly2566=) c.7695A>C (p.Gly2565=) c.7950A>C (p.Gly2650=) c.7956A>C (p.Gly2652=) c.7968A>C (p.Gly2656=) c.6093A>C (p.Gly2031=) | |
| 6 | g.129481388A>G | CA451934054 | LAMA2 | c.7686A>G (p.Gly2562=) c.7962A>G (p.Gly2654=) c.7698A>G (p.Gly2566=) c.7695A>G (p.Gly2565=) c.7950A>G (p.Gly2650=) c.7956A>G (p.Gly2652=) c.7968A>G (p.Gly2656=) c.6093A>G (p.Gly2031=) | ClinVar |
| 6 | g.129481388A>T | CA451934055 | LAMA2 | c.7686A>T (p.Gly2562=) c.7962A>T (p.Gly2654=) c.7698A>T (p.Gly2566=) c.7695A>T (p.Gly2565=) c.7950A>T (p.Gly2650=) c.7956A>T (p.Gly2652=) c.7968A>T (p.Gly2656=) c.6093A>T (p.Gly2031=) | |
| 6 | g.129481389A= | CA1663173807 | LAMA2 | c.7687A= (p.Ser2563=) c.7963A= (p.Ser2655=) c.7699A= (p.Ser2567=) c.7696A= (p.Ser2566=) c.7951A= (p.Ser2651=) c.7957A= (p.Ser2653=) c.7969A= (p.Ser2657=) c.6094A= (p.Ser2032=) | |
| 6 | g.129481389A>C | CA365628276 | LAMA2 | c.7687A>C (p.Ser2563Arg) c.7963A>C (p.Ser2655Arg) c.7699A>C (p.Ser2567Arg) c.7696A>C (p.Ser2566Arg) c.7951A>C (p.Ser2651Arg) c.7957A>C (p.Ser2653Arg) c.7969A>C (p.Ser2657Arg) c.6094A>C (p.Ser2032Arg) | |
| 6 | g.129481389A>G | CA365628277 | LAMA2 | c.7687A>G (p.Ser2563Gly) c.7963A>G (p.Ser2655Gly) c.7699A>G (p.Ser2567Gly) c.7696A>G (p.Ser2566Gly) c.7951A>G (p.Ser2651Gly) c.7957A>G (p.Ser2653Gly) c.7969A>G (p.Ser2657Gly) c.6094A>G (p.Ser2032Gly) | gnomAD v4 |
| 6 | g.129481389A>T | CA365628279 | LAMA2 | c.7687A>T (p.Ser2563Cys) c.7963A>T (p.Ser2655Cys) c.7699A>T (p.Ser2567Cys) c.7696A>T (p.Ser2566Cys) c.7951A>T (p.Ser2651Cys) c.7957A>T (p.Ser2653Cys) c.7969A>T (p.Ser2657Cys) c.6094A>T (p.Ser2032Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129481390G>A | CA365628284 | LAMA2 | c.7688G>A (p.Ser2563Asn) c.7964G>A (p.Ser2655Asn) c.7700G>A (p.Ser2567Asn) c.7697G>A (p.Ser2566Asn) c.7952G>A (p.Ser2651Asn) c.7958G>A (p.Ser2653Asn) c.7970G>A (p.Ser2657Asn) c.6095G>A (p.Ser2032Asn) | ClinVar gnomAD v4 |
| 6 | g.129481390G>C | CA365628285 | LAMA2 | c.7688G>C (p.Ser2563Thr) c.7964G>C (p.Ser2655Thr) c.7700G>C (p.Ser2567Thr) c.7697G>C (p.Ser2566Thr) c.7952G>C (p.Ser2651Thr) c.7958G>C (p.Ser2653Thr) c.7970G>C (p.Ser2657Thr) c.6095G>C (p.Ser2032Thr) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129481390G= | CA1663173812 | LAMA2 | c.7688G= (p.Ser2563=) c.7964G= (p.Ser2655=) c.7700G= (p.Ser2567=) c.7697G= (p.Ser2566=) c.7952G= (p.Ser2651=) c.7958G= (p.Ser2653=) c.7970G= (p.Ser2657=) c.6095G= (p.Ser2032=) | |
| 6 | g.129481390G>T | CA365628282 | LAMA2 | c.7688G>T (p.Ser2563Ile) c.7964G>T (p.Ser2655Ile) c.7700G>T (p.Ser2567Ile) c.7697G>T (p.Ser2566Ile) c.7952G>T (p.Ser2651Ile) c.7958G>T (p.Ser2653Ile) c.7970G>T (p.Ser2657Ile) c.6095G>T (p.Ser2032Ile) | gnomAD v4 |
| 6 | g.129481391T>A | CA365628287 | LAMA2 | c.7689T>A (p.Ser2563Arg) c.7965T>A (p.Ser2655Arg) c.7701T>A (p.Ser2567Arg) c.7698T>A (p.Ser2566Arg) c.7953T>A (p.Ser2651Arg) c.7959T>A (p.Ser2653Arg) c.7971T>A (p.Ser2657Arg) c.6096T>A (p.Ser2032Arg) | |
| 6 | g.129481391T>C | CA451934056 | LAMA2 | c.7689T>C (p.Ser2563=) c.7965T>C (p.Ser2655=) c.7701T>C (p.Ser2567=) c.7698T>C (p.Ser2566=) c.7953T>C (p.Ser2651=) c.7959T>C (p.Ser2653=) c.7971T>C (p.Ser2657=) c.6096T>C (p.Ser2032=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129481391T>G | CA365628289 | LAMA2 | c.7689T>G (p.Ser2563Arg) c.7965T>G (p.Ser2655Arg) c.7701T>G (p.Ser2567Arg) c.7698T>G (p.Ser2566Arg) c.7953T>G (p.Ser2651Arg) c.7959T>G (p.Ser2653Arg) c.7971T>G (p.Ser2657Arg) c.6096T>G (p.Ser2032Arg) | |
| 6 | g.129481392G>A | CA365628291 | LAMA2 | c.7690G>A (p.Gly2564Arg) c.7966G>A (p.Gly2656Arg) c.7702G>A (p.Gly2568Arg) c.7699G>A (p.Gly2567Arg) c.7954G>A (p.Gly2652Arg) c.7960G>A (p.Gly2654Arg) c.7972G>A (p.Gly2658Arg) c.6097G>A (p.Gly2033Arg) | dbSNP |
| 6 | g.129481392G>C | CA365628293 | LAMA2 | c.7690G>C (p.Gly2564Arg) c.7966G>C (p.Gly2656Arg) c.7702G>C (p.Gly2568Arg) c.7699G>C (p.Gly2567Arg) c.7954G>C (p.Gly2652Arg) c.7960G>C (p.Gly2654Arg) c.7972G>C (p.Gly2658Arg) c.6097G>C (p.Gly2033Arg) | |
| 6 | g.129481392G= | CA1663173816 | LAMA2 | c.7690G= (p.Gly2564=) c.7966G= (p.Gly2656=) c.7702G= (p.Gly2568=) c.7699G= (p.Gly2567=) c.7954G= (p.Gly2652=) c.7960G= (p.Gly2654=) c.7972G= (p.Gly2658=) c.6097G= (p.Gly2033=) | |
| 6 | g.129481392G>T | CA365628294 | LAMA2 | c.7690G>T (p.Gly2564Ter) c.7966G>T (p.Gly2656Ter) c.7702G>T (p.Gly2568Ter) c.7699G>T (p.Gly2567Ter) c.7954G>T (p.Gly2652Ter) c.7960G>T (p.Gly2654Ter) c.7972G>T (p.Gly2658Ter) c.6097G>T (p.Gly2033Ter) | |
| 6 | g.129481393G>A | CA365628300 | LAMA2 | c.7691G>A (p.Gly2564Glu) c.7967G>A (p.Gly2656Glu) c.7703G>A (p.Gly2568Glu) c.7700G>A (p.Gly2567Glu) c.7955G>A (p.Gly2652Glu) c.7961G>A (p.Gly2654Glu) c.7973G>A (p.Gly2658Glu) c.6098G>A (p.Gly2033Glu) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129481393G>C | CA365628299 | LAMA2 | c.7691G>C (p.Gly2564Ala) c.7967G>C (p.Gly2656Ala) c.7703G>C (p.Gly2568Ala) c.7700G>C (p.Gly2567Ala) c.7955G>C (p.Gly2652Ala) c.7961G>C (p.Gly2654Ala) c.7973G>C (p.Gly2658Ala) c.6098G>C (p.Gly2033Ala) | |
| 6 | g.129481393G= | CA1663173820 | LAMA2 | c.7691G= (p.Gly2564=) c.7967G= (p.Gly2656=) c.7703G= (p.Gly2568=) c.7700G= (p.Gly2567=) c.7955G= (p.Gly2652=) c.7961G= (p.Gly2654=) c.7973G= (p.Gly2658=) c.6098G= (p.Gly2033=) | |
| 6 | g.129481393G>T | CA365628297 | LAMA2 | c.7691G>T (p.Gly2564Val) c.7967G>T (p.Gly2656Val) c.7703G>T (p.Gly2568Val) c.7700G>T (p.Gly2567Val) c.7955G>T (p.Gly2652Val) c.7961G>T (p.Gly2654Val) c.7973G>T (p.Gly2658Val) c.6098G>T (p.Gly2033Val) | |
| 6 | g.129481394A>C | CA451934057 | LAMA2 | c.7692A>C (p.Gly2564=) c.7968A>C (p.Gly2656=) c.7704A>C (p.Gly2568=) c.7701A>C (p.Gly2567=) c.7956A>C (p.Gly2652=) c.7962A>C (p.Gly2654=) c.7974A>C (p.Gly2658=) c.6099A>C (p.Gly2033=) | |
| 6 | g.129481394A>G | CA451934058 | LAMA2 | c.7692A>G (p.Gly2564=) c.7968A>G (p.Gly2656=) c.7704A>G (p.Gly2568=) c.7701A>G (p.Gly2567=) c.7956A>G (p.Gly2652=) c.7962A>G (p.Gly2654=) c.7974A>G (p.Gly2658=) c.6099A>G (p.Gly2033=) | ClinVar |
| 6 | g.129481394A>T | CA451934059 | LAMA2 | c.7692A>T (p.Gly2564=) c.7968A>T (p.Gly2656=) c.7704A>T (p.Gly2568=) c.7701A>T (p.Gly2567=) c.7956A>T (p.Gly2652=) c.7962A>T (p.Gly2654=) c.7974A>T (p.Gly2658=) c.6099A>T (p.Gly2033=) | |
| 6 | g.129481395G>A | CA365628302 | LAMA2 | c.7693G>A (p.Gly2565Arg) c.7969G>A (p.Gly2657Arg) c.7705G>A (p.Gly2569Arg) c.7702G>A (p.Gly2568Arg) c.7957G>A (p.Gly2653Arg) c.7963G>A (p.Gly2655Arg) c.7975G>A (p.Gly2659Arg) c.6100G>A (p.Gly2034Arg) | gnomAD v4 |
| 6 | g.129481395G>C | CA365628303 | LAMA2 | c.7693G>C (p.Gly2565Arg) c.7969G>C (p.Gly2657Arg) c.7705G>C (p.Gly2569Arg) c.7702G>C (p.Gly2568Arg) c.7957G>C (p.Gly2653Arg) c.7963G>C (p.Gly2655Arg) c.7975G>C (p.Gly2659Arg) c.6100G>C (p.Gly2034Arg) | |
| 6 | g.129481395G>T | CA365628305 | LAMA2 | c.7693G>T (p.Gly2565Trp) c.7969G>T (p.Gly2657Trp) c.7705G>T (p.Gly2569Trp) c.7702G>T (p.Gly2568Trp) c.7957G>T (p.Gly2653Trp) c.7963G>T (p.Gly2655Trp) c.7975G>T (p.Gly2659Trp) c.6100G>T (p.Gly2034Trp) | gnomAD v4 |
| 6 | g.129481396G>A | CA365628306 | LAMA2 | c.7694G>A (p.Gly2565Glu) c.7970G>A (p.Gly2657Glu) c.7706G>A (p.Gly2569Glu) c.7703G>A (p.Gly2568Glu) c.7958G>A (p.Gly2653Glu) c.7964G>A (p.Gly2655Glu) c.7976G>A (p.Gly2659Glu) c.6101G>A (p.Gly2034Glu) | |
| 6 | g.129481396G>C | CA365628308 | LAMA2 | c.7694G>C (p.Gly2565Ala) c.7970G>C (p.Gly2657Ala) c.7706G>C (p.Gly2569Ala) c.7703G>C (p.Gly2568Ala) c.7958G>C (p.Gly2653Ala) c.7964G>C (p.Gly2655Ala) c.7976G>C (p.Gly2659Ala) c.6101G>C (p.Gly2034Ala) | |
| 6 | g.129481396G= | CA1663173821 | LAMA2 | c.7694G= (p.Gly2565=) c.7970G= (p.Gly2657=) c.7706G= (p.Gly2569=) c.7703G= (p.Gly2568=) c.7958G= (p.Gly2653=) c.7964G= (p.Gly2655=) c.7976G= (p.Gly2659=) c.6101G= (p.Gly2034=) | |
| 6 | g.129481396G>T | CA3994639 | LAMA2 | c.7694G>T (p.Gly2565Val) c.7970G>T (p.Gly2657Val) c.7706G>T (p.Gly2569Val) c.7703G>T (p.Gly2568Val) c.7958G>T (p.Gly2653Val) c.7964G>T (p.Gly2655Val) c.7976G>T (p.Gly2659Val) c.6101G>T (p.Gly2034Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129481397G>A | CA451934063 | LAMA2 | c.7695G>A (p.Gly2565=) c.7971G>A (p.Gly2657=) c.7707G>A (p.Gly2569=) c.7704G>A (p.Gly2568=) c.7959G>A (p.Gly2653=) c.7965G>A (p.Gly2655=) c.7977G>A (p.Gly2659=) c.6102G>A (p.Gly2034=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129481397G>C | CA451934062 | LAMA2 | c.7695G>C (p.Gly2565=) c.7971G>C (p.Gly2657=) c.7707G>C (p.Gly2569=) c.7704G>C (p.Gly2568=) c.7959G>C (p.Gly2653=) c.7965G>C (p.Gly2655=) c.7977G>C (p.Gly2659=) c.6102G>C (p.Gly2034=) | |
| 6 | g.129481397G= | CA1663173824 | LAMA2 | c.7695G= (p.Gly2565=) c.7971G= (p.Gly2657=) c.7707G= (p.Gly2569=) c.7704G= (p.Gly2568=) c.7959G= (p.Gly2653=) c.7965G= (p.Gly2655=) c.7977G= (p.Gly2659=) c.6102G= (p.Gly2034=) | |
| 6 | g.129481397G>T | CA451934061 | LAMA2 | c.7695G>T (p.Gly2565=) c.7971G>T (p.Gly2657=) c.7707G>T (p.Gly2569=) c.7704G>T (p.Gly2568=) c.7959G>T (p.Gly2653=) c.7965G>T (p.Gly2655=) c.7977G>T (p.Gly2659=) c.6102G>T (p.Gly2034=) | |
| 6 | g.129481398A= | CA1663173830 | LAMA2 | c.7696A= (p.Thr2566=) c.7972A= (p.Thr2658=) c.7708A= (p.Thr2570=) c.7705A= (p.Thr2569=) c.7960A= (p.Thr2654=) c.7966A= (p.Thr2656=) c.7978A= (p.Thr2660=) c.6103A= (p.Thr2035=) | |
| 6 | g.129481398A>C | CA365628313 | LAMA2 | c.7696A>C (p.Thr2566Pro) c.7972A>C (p.Thr2658Pro) c.7708A>C (p.Thr2570Pro) c.7705A>C (p.Thr2569Pro) c.7960A>C (p.Thr2654Pro) c.7966A>C (p.Thr2656Pro) c.7978A>C (p.Thr2660Pro) c.6103A>C (p.Thr2035Pro) | |
| 6 | g.129481398A>G | CA3994640 | LAMA2 | c.7696A>G (p.Thr2566Ala) c.7972A>G (p.Thr2658Ala) c.7708A>G (p.Thr2570Ala) c.7705A>G (p.Thr2569Ala) c.7960A>G (p.Thr2654Ala) c.7966A>G (p.Thr2656Ala) c.7978A>G (p.Thr2660Ala) c.6103A>G (p.Thr2035Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.129481398A>T | CA365628315 | LAMA2 | c.7696A>T (p.Thr2566Ser) c.7972A>T (p.Thr2658Ser) c.7708A>T (p.Thr2570Ser) c.7705A>T (p.Thr2569Ser) c.7960A>T (p.Thr2654Ser) c.7966A>T (p.Thr2656Ser) c.7978A>T (p.Thr2660Ser) c.6103A>T (p.Thr2035Ser) | |
| 6 | g.129481399C>A | CA365628317 | LAMA2 | c.7697C>A (p.Thr2566Lys) c.7973C>A (p.Thr2658Lys) c.7709C>A (p.Thr2570Lys) c.7706C>A (p.Thr2569Lys) c.7961C>A (p.Thr2654Lys) c.7967C>A (p.Thr2656Lys) c.7979C>A (p.Thr2660Lys) c.6104C>A (p.Thr2035Lys) | |
| 6 | g.129481399C>G | CA365628318 | LAMA2 | c.7697C>G (p.Thr2566Arg) c.7973C>G (p.Thr2658Arg) c.7709C>G (p.Thr2570Arg) c.7706C>G (p.Thr2569Arg) c.7961C>G (p.Thr2654Arg) c.7967C>G (p.Thr2656Arg) c.7979C>G (p.Thr2660Arg) c.6104C>G (p.Thr2035Arg) | |
| 6 | g.129481399C>T | CA365628319 | LAMA2 | c.7697C>T (p.Thr2566Ile) c.7973C>T (p.Thr2658Ile) c.7709C>T (p.Thr2570Ile) c.7706C>T (p.Thr2569Ile) c.7961C>T (p.Thr2654Ile) c.7967C>T (p.Thr2656Ile) c.7979C>T (p.Thr2660Ile) c.6104C>T (p.Thr2035Ile) | |
| 6 | g.129481400A= | CA1663173838 | LAMA2 | c.7698A= (p.Thr2566=) c.7974A= (p.Thr2658=) c.7710A= (p.Thr2570=) c.7707A= (p.Thr2569=) c.7962A= (p.Thr2654=) c.7968A= (p.Thr2656=) c.7980A= (p.Thr2660=) c.6105A= (p.Thr2035=) | |
| 6 | g.129481400A>C | CA451934065 | LAMA2 | c.7698A>C (p.Thr2566=) c.7974A>C (p.Thr2658=) c.7710A>C (p.Thr2570=) c.7707A>C (p.Thr2569=) c.7962A>C (p.Thr2654=) c.7968A>C (p.Thr2656=) c.7980A>C (p.Thr2660=) c.6105A>C (p.Thr2035=) | |
| 6 | g.129481400A>G | CA451934066 | LAMA2 | c.7698A>G (p.Thr2566=) c.7974A>G (p.Thr2658=) c.7710A>G (p.Thr2570=) c.7707A>G (p.Thr2569=) c.7962A>G (p.Thr2654=) c.7968A>G (p.Thr2656=) c.7980A>G (p.Thr2660=) c.6105A>G (p.Thr2035=) | |
| 6 | g.129481400A>T | CA451934067 | LAMA2 | c.7698A>T (p.Thr2566=) c.7974A>T (p.Thr2658=) c.7710A>T (p.Thr2570=) c.7707A>T (p.Thr2569=) c.7962A>T (p.Thr2654=) c.7968A>T (p.Thr2656=) c.7980A>T (p.Thr2660=) c.6105A>T (p.Thr2035=) | |
| 6 | g.129481400_129481401insG | CA658657620 | LAMA2 | c.7698_7699insG (p.Pro2567AlafsTer5) c.7974_7975insG (p.Pro2659AlafsTer5) c.7710_7711insG (p.Pro2571AlafsTer5) c.7707_7708insG (p.Pro2570AlafsTer5) c.7962_7963insG (p.Pro2655AlafsTer5) c.7968_7969insG (p.Pro2657AlafsTer5) c.7980_7981insG (p.Pro2661AlafsTer5) c.6105_6106insG (p.Pro2036AlafsTer5) | ClinVar dbSNP |
| 6 | g.129481401C>A | CA365628321 | LAMA2 | c.7699C>A (p.Pro2567Thr) c.7975C>A (p.Pro2659Thr) c.7711C>A (p.Pro2571Thr) c.7708C>A (p.Pro2570Thr) c.7963C>A (p.Pro2655Thr) c.7969C>A (p.Pro2657Thr) c.7981C>A (p.Pro2661Thr) c.6106C>A (p.Pro2036Thr) | |
| 6 | g.129481401C= | CA1663173846 | LAMA2 | c.7699C= (p.Pro2567=) c.7975C= (p.Pro2659=) c.7711C= (p.Pro2571=) c.7708C= (p.Pro2570=) c.7963C= (p.Pro2655=) c.7969C= (p.Pro2657=) c.7981C= (p.Pro2661=) c.6106C= (p.Pro2036=) | |
| 6 | g.129481401C>G | CA365628323 | LAMA2 | c.7699C>G (p.Pro2567Ala) c.7975C>G (p.Pro2659Ala) c.7711C>G (p.Pro2571Ala) c.7708C>G (p.Pro2570Ala) c.7963C>G (p.Pro2655Ala) c.7969C>G (p.Pro2657Ala) c.7981C>G (p.Pro2661Ala) c.6106C>G (p.Pro2036Ala) | |
| 6 | g.129481401C>T | CA365628325 | LAMA2 | c.7699C>T (p.Pro2567Ser) c.7975C>T (p.Pro2659Ser) c.7711C>T (p.Pro2571Ser) c.7708C>T (p.Pro2570Ser) c.7963C>T (p.Pro2655Ser) c.7969C>T (p.Pro2657Ser) c.7981C>T (p.Pro2661Ser) c.6106C>T (p.Pro2036Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129481402C>A | CA365628328 | LAMA2 | c.7700C>A (p.Pro2567Gln) c.7976C>A (p.Pro2659Gln) c.7712C>A (p.Pro2571Gln) c.7709C>A (p.Pro2570Gln) c.7964C>A (p.Pro2655Gln) c.7970C>A (p.Pro2657Gln) c.7982C>A (p.Pro2661Gln) c.6107C>A (p.Pro2036Gln) | |
| 6 | g.129481402C>G | CA365628329 | LAMA2 | c.7700C>G (p.Pro2567Arg) c.7976C>G (p.Pro2659Arg) c.7712C>G (p.Pro2571Arg) c.7709C>G (p.Pro2570Arg) c.7964C>G (p.Pro2655Arg) c.7970C>G (p.Pro2657Arg) c.7982C>G (p.Pro2661Arg) c.6107C>G (p.Pro2036Arg) | |
| 6 | g.129481402C>T | CA365628331 | LAMA2 | c.7700C>T (p.Pro2567Leu) c.7976C>T (p.Pro2659Leu) c.7712C>T (p.Pro2571Leu) c.7709C>T (p.Pro2570Leu) c.7964C>T (p.Pro2655Leu) c.7970C>T (p.Pro2657Leu) c.7982C>T (p.Pro2661Leu) c.6107C>T (p.Pro2036Leu) | |
| 6 | g.129481403A>C | CA451934069 | LAMA2 | c.7701A>C (p.Pro2567=) c.7977A>C (p.Pro2659=) c.7713A>C (p.Pro2571=) c.7710A>C (p.Pro2570=) c.7965A>C (p.Pro2655=) c.7971A>C (p.Pro2657=) c.7983A>C (p.Pro2661=) c.6108A>C (p.Pro2036=) | |
| 6 | g.129481403A>G | CA451934071 | LAMA2 | c.7701A>G (p.Pro2567=) c.7977A>G (p.Pro2659=) c.7713A>G (p.Pro2571=) c.7710A>G (p.Pro2570=) c.7965A>G (p.Pro2655=) c.7971A>G (p.Pro2657=) c.7983A>G (p.Pro2661=) c.6108A>G (p.Pro2036=) | |
| 6 | g.129481403A>T | CA451934072 | LAMA2 | c.7701A>T (p.Pro2567=) c.7977A>T (p.Pro2659=) c.7713A>T (p.Pro2571=) c.7710A>T (p.Pro2570=) c.7965A>T (p.Pro2655=) c.7971A>T (p.Pro2657=) c.7983A>T (p.Pro2661=) c.6108A>T (p.Pro2036=) | |
| 6 | g.129481403_129481404del | CA2499485064 | LAMA2 | c.7701_7702del (p.Ala2568ThrfsTer3) c.7977_7978del (p.Ala2660ThrfsTer3) c.7713_7714del (p.Ala2572ThrfsTer3) c.7710_7711del (p.Ala2571ThrfsTer3) c.7965_7966del (p.Ala2656ThrfsTer3) c.7971_7972del (p.Ala2658ThrfsTer3) c.7983_7984del (p.Ala2662ThrfsTer3) c.6108_6109del (p.Ala2037ThrfsTer3) | |
| 6 | g.129481404G>A | CA365628333 | LAMA2 | c.7702G>A (p.Ala2568Thr) c.7978G>A (p.Ala2660Thr) c.7714G>A (p.Ala2572Thr) c.7711G>A (p.Ala2571Thr) c.7966G>A (p.Ala2656Thr) c.7972G>A (p.Ala2658Thr) c.7984G>A (p.Ala2662Thr) c.6109G>A (p.Ala2037Thr) | |
| 6 | g.129481404G>C | CA365628335 | LAMA2 | c.7702G>C (p.Ala2568Pro) c.7978G>C (p.Ala2660Pro) c.7714G>C (p.Ala2572Pro) c.7711G>C (p.Ala2571Pro) c.7966G>C (p.Ala2656Pro) c.7972G>C (p.Ala2658Pro) c.7984G>C (p.Ala2662Pro) c.6109G>C (p.Ala2037Pro) | |
| 6 | g.129481404G>T | CA365628337 | LAMA2 | c.7702G>T (p.Ala2568Ser) c.7978G>T (p.Ala2660Ser) c.7714G>T (p.Ala2572Ser) c.7711G>T (p.Ala2571Ser) c.7966G>T (p.Ala2656Ser) c.7972G>T (p.Ala2658Ser) c.7984G>T (p.Ala2662Ser) c.6109G>T (p.Ala2037Ser) | |
| 6 | g.129481405C>A | CA365628341 | LAMA2 | c.7703C>A (p.Ala2568Glu) c.7979C>A (p.Ala2660Glu) c.7715C>A (p.Ala2572Glu) c.7712C>A (p.Ala2571Glu) c.7967C>A (p.Ala2656Glu) c.7973C>A (p.Ala2658Glu) c.7985C>A (p.Ala2662Glu) c.6110C>A (p.Ala2037Glu) | |
| 6 | g.129481405C>G | CA365628343 | LAMA2 | c.7703C>G (p.Ala2568Gly) c.7979C>G (p.Ala2660Gly) c.7715C>G (p.Ala2572Gly) c.7712C>G (p.Ala2571Gly) c.7967C>G (p.Ala2656Gly) c.7973C>G (p.Ala2658Gly) c.7985C>G (p.Ala2662Gly) c.6110C>G (p.Ala2037Gly) | |
| 6 | g.129481405C>T | CA365628339 | LAMA2 | c.7703C>T (p.Ala2568Val) c.7979C>T (p.Ala2660Val) c.7715C>T (p.Ala2572Val) c.7712C>T (p.Ala2571Val) c.7967C>T (p.Ala2656Val) c.7973C>T (p.Ala2658Val) c.7985C>T (p.Ala2662Val) c.6110C>T (p.Ala2037Val) | ClinVar |
| 6 | g.129481406A= | CA1663173852 | LAMA2 | c.7704A= (p.Ala2568=) c.7980A= (p.Ala2660=) c.7716A= (p.Ala2572=) c.7713A= (p.Ala2571=) c.7968A= (p.Ala2656=) c.7974A= (p.Ala2658=) c.7986A= (p.Ala2662=) c.6111A= (p.Ala2037=) | |
| 6 | g.129481406A>C | CA451934075 | LAMA2 | c.7704A>C (p.Ala2568=) c.7980A>C (p.Ala2660=) c.7716A>C (p.Ala2572=) c.7713A>C (p.Ala2571=) c.7968A>C (p.Ala2656=) c.7974A>C (p.Ala2658=) c.7986A>C (p.Ala2662=) c.6111A>C (p.Ala2037=) | |
| 6 | g.129481406A>G | CA451934076 | LAMA2 | c.7704A>G (p.Ala2568=) c.7980A>G (p.Ala2660=) c.7716A>G (p.Ala2572=) c.7713A>G (p.Ala2571=) c.7968A>G (p.Ala2656=) c.7974A>G (p.Ala2658=) c.7986A>G (p.Ala2662=) c.6111A>G (p.Ala2037=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129481406A>T | CA451934078 | LAMA2 | c.7704A>T (p.Ala2568=) c.7980A>T (p.Ala2660=) c.7716A>T (p.Ala2572=) c.7713A>T (p.Ala2571=) c.7968A>T (p.Ala2656=) c.7974A>T (p.Ala2658=) c.7986A>T (p.Ala2662=) c.6111A>T (p.Ala2037=) | |
| 6 | g.129481406_129481407insTT | CA2507336761 | LAMA2 | c.7704_7705insTT (p.Pro2569PhefsTer?) c.7980_7981insTT (p.Pro2661PhefsTer?) c.7716_7717insTT (p.Pro2573PhefsTer?) c.7713_7714insTT (p.Pro2572PhefsTer?) c.7716_7717insTT (p.Pro2573PhefsTer16) c.7704_7705insTT (p.Pro2569PhefsTer16) c.7968_7969insTT (p.Pro2657PhefsTer?) c.7974_7975insTT (p.Pro2659PhefsTer?) c.7986_7987insTT (p.Pro2663PhefsTer?) c.6111_6112insTT (p.Pro2038PhefsTer?) | |
| 6 | g.129481407C>A | CA365628347 | LAMA2 | c.7705C>A (p.Pro2569Thr) c.7981C>A (p.Pro2661Thr) c.7717C>A (p.Pro2573Thr) c.7714C>A (p.Pro2572Thr) c.7969C>A (p.Pro2657Thr) c.7975C>A (p.Pro2659Thr) c.7987C>A (p.Pro2663Thr) c.6112C>A (p.Pro2038Thr) | |
| 6 | g.129481407C>G | CA365628345 | LAMA2 | c.7705C>G (p.Pro2569Ala) c.7981C>G (p.Pro2661Ala) c.7717C>G (p.Pro2573Ala) c.7714C>G (p.Pro2572Ala) c.7969C>G (p.Pro2657Ala) c.7975C>G (p.Pro2659Ala) c.7987C>G (p.Pro2663Ala) c.6112C>G (p.Pro2038Ala) | |
| 6 | g.129481407C>T | CA365628349 | LAMA2 | c.7705C>T (p.Pro2569Ser) c.7981C>T (p.Pro2661Ser) c.7717C>T (p.Pro2573Ser) c.7714C>T (p.Pro2572Ser) c.7969C>T (p.Pro2657Ser) c.7975C>T (p.Pro2659Ser) c.7987C>T (p.Pro2663Ser) c.6112C>T (p.Pro2038Ser) | |
| 6 | g.129481408C>A | CA365628351 | LAMA2 | c.7706C>A (p.Pro2569Gln) c.7982C>A (p.Pro2661Gln) c.7718C>A (p.Pro2573Gln) c.7715C>A (p.Pro2572Gln) c.7970C>A (p.Pro2657Gln) c.7976C>A (p.Pro2659Gln) c.7988C>A (p.Pro2663Gln) c.6113C>A (p.Pro2038Gln) | |
| 6 | g.129481408C= | CA1663173857 | LAMA2 | c.7706C= (p.Pro2569=) c.7982C= (p.Pro2661=) c.7718C= (p.Pro2573=) c.7715C= (p.Pro2572=) c.7970C= (p.Pro2657=) c.7976C= (p.Pro2659=) c.7988C= (p.Pro2663=) c.6113C= (p.Pro2038=) | |
| 6 | g.129481408C>G | CA365628353 | LAMA2 | c.7706C>G (p.Pro2569Arg) c.7982C>G (p.Pro2661Arg) c.7718C>G (p.Pro2573Arg) c.7715C>G (p.Pro2572Arg) c.7970C>G (p.Pro2657Arg) c.7976C>G (p.Pro2659Arg) c.7988C>G (p.Pro2663Arg) c.6113C>G (p.Pro2038Arg) | |
| 6 | g.129481408C>T | CA365628352 | LAMA2 | c.7706C>T (p.Pro2569Leu) c.7982C>T (p.Pro2661Leu) c.7718C>T (p.Pro2573Leu) c.7715C>T (p.Pro2572Leu) c.7970C>T (p.Pro2657Leu) c.7976C>T (p.Pro2659Leu) c.7988C>T (p.Pro2663Leu) c.6113C>T (p.Pro2038Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129481409A>C | CA451934082 | LAMA2 | c.7707A>C (p.Pro2569=) c.7983A>C (p.Pro2661=) c.7719A>C (p.Pro2573=) c.7716A>C (p.Pro2572=) c.7971A>C (p.Pro2657=) c.7977A>C (p.Pro2659=) c.7989A>C (p.Pro2663=) c.6114A>C (p.Pro2038=) | |
| 6 | g.129481409A>G | CA451934083 | LAMA2 | c.7707A>G (p.Pro2569=) c.7983A>G (p.Pro2661=) c.7719A>G (p.Pro2573=) c.7716A>G (p.Pro2572=) c.7971A>G (p.Pro2657=) c.7977A>G (p.Pro2659=) c.7989A>G (p.Pro2663=) c.6114A>G (p.Pro2038=) | |
| 6 | g.129481409A>T | CA451934084 | LAMA2 | c.7707A>T (p.Pro2569=) c.7983A>T (p.Pro2661=) c.7719A>T (p.Pro2573=) c.7716A>T (p.Pro2572=) c.7971A>T (p.Pro2657=) c.7977A>T (p.Pro2659=) c.7989A>T (p.Pro2663=) c.6114A>T (p.Pro2038=) | |
| 6 | g.129481410C>A | CA365628355 | LAMA2 | c.7708C>A (p.Pro2570Thr) c.7984C>A (p.Pro2662Thr) c.7720C>A (p.Pro2574Thr) c.7717C>A (p.Pro2573Thr) c.7972C>A (p.Pro2658Thr) c.7978C>A (p.Pro2660Thr) c.7990C>A (p.Pro2664Thr) c.6115C>A (p.Pro2039Thr) | |
| 6 | g.129481410C= | CA1663173859 | LAMA2 | c.7708C= (p.Pro2570=) c.7984C= (p.Pro2662=) c.7720C= (p.Pro2574=) c.7717C= (p.Pro2573=) c.7972C= (p.Pro2658=) c.7978C= (p.Pro2660=) c.7990C= (p.Pro2664=) c.6115C= (p.Pro2039=) | |
| 6 | g.129481410C>G | CA365628356 | LAMA2 | c.7708C>G (p.Pro2570Ala) c.7984C>G (p.Pro2662Ala) c.7720C>G (p.Pro2574Ala) c.7717C>G (p.Pro2573Ala) c.7972C>G (p.Pro2658Ala) c.7978C>G (p.Pro2660Ala) c.7990C>G (p.Pro2664Ala) c.6115C>G (p.Pro2039Ala) | |
| 6 | g.129481410C>T | CA365628358 | LAMA2 | c.7708C>T (p.Pro2570Ser) c.7984C>T (p.Pro2662Ser) c.7720C>T (p.Pro2574Ser) c.7717C>T (p.Pro2573Ser) c.7972C>T (p.Pro2658Ser) c.7978C>T (p.Pro2660Ser) c.7990C>T (p.Pro2664Ser) c.6115C>T (p.Pro2039Ser) | dbSNP |
| 6 | g.129481411C>A | CA365628359 | LAMA2 | c.7709C>A (p.Pro2570His) c.7985C>A (p.Pro2662His) c.7721C>A (p.Pro2574His) c.7718C>A (p.Pro2573His) c.7973C>A (p.Pro2658His) c.7979C>A (p.Pro2660His) c.7991C>A (p.Pro2664His) c.6116C>A (p.Pro2039His) | |
| 6 | g.129481411C>G | CA365628360 | LAMA2 | c.7709C>G (p.Pro2570Arg) c.7985C>G (p.Pro2662Arg) c.7721C>G (p.Pro2574Arg) c.7718C>G (p.Pro2573Arg) c.7973C>G (p.Pro2658Arg) c.7979C>G (p.Pro2660Arg) c.7991C>G (p.Pro2664Arg) c.6116C>G (p.Pro2039Arg) | |
| 6 | g.129481411C>T | CA365628361 | LAMA2 | c.7709C>T (p.Pro2570Leu) c.7985C>T (p.Pro2662Leu) c.7721C>T (p.Pro2574Leu) c.7718C>T (p.Pro2573Leu) c.7973C>T (p.Pro2658Leu) c.7979C>T (p.Pro2660Leu) c.7991C>T (p.Pro2664Leu) c.6116C>T (p.Pro2039Leu) | |
| 6 | g.129481412T>A | CA451934089 | LAMA2 | c.7710T>A (p.Pro2570=) c.7986T>A (p.Pro2662=) c.7722T>A (p.Pro2574=) c.7719T>A (p.Pro2573=) c.7974T>A (p.Pro2658=) c.7980T>A (p.Pro2660=) c.7992T>A (p.Pro2664=) c.6117T>A (p.Pro2039=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129481412T>C | CA451934090 | LAMA2 | c.7710T>C (p.Pro2570=) c.7986T>C (p.Pro2662=) c.7722T>C (p.Pro2574=) c.7719T>C (p.Pro2573=) c.7974T>C (p.Pro2658=) c.7980T>C (p.Pro2660=) c.7992T>C (p.Pro2664=) c.6117T>C (p.Pro2039=) | ClinVar |
| 6 | g.129481412T>G | CA451934091 | LAMA2 | c.7710T>G (p.Pro2570=) c.7986T>G (p.Pro2662=) c.7722T>G (p.Pro2574=) c.7719T>G (p.Pro2573=) c.7974T>G (p.Pro2658=) c.7980T>G (p.Pro2660=) c.7992T>G (p.Pro2664=) c.6117T>G (p.Pro2039=) | |
| 6 | g.129481413A>C | CA451934092 | LAMA2 | c.7711A>C (p.Arg2571=) c.7987A>C (p.Arg2663=) c.7723A>C (p.Arg2575=) c.7720A>C (p.Arg2574=) c.7975A>C (p.Arg2659=) c.7981A>C (p.Arg2661=) c.7993A>C (p.Arg2665=) c.6118A>C (p.Arg2040=) | |
| 6 | g.129481413A>G | CA365628363 | LAMA2 | c.7711A>G (p.Arg2571Gly) c.7987A>G (p.Arg2663Gly) c.7723A>G (p.Arg2575Gly) c.7720A>G (p.Arg2574Gly) c.7975A>G (p.Arg2659Gly) c.7981A>G (p.Arg2661Gly) c.7993A>G (p.Arg2665Gly) c.6118A>G (p.Arg2040Gly) | gnomAD v4 |
| 6 | g.129481413A>T | CA365628364 | LAMA2 | c.7711A>T (p.Arg2571Trp) c.7987A>T (p.Arg2663Trp) c.7723A>T (p.Arg2575Trp) c.7720A>T (p.Arg2574Trp) c.7975A>T (p.Arg2659Trp) c.7981A>T (p.Arg2661Trp) c.7993A>T (p.Arg2665Trp) c.6118A>T (p.Arg2040Trp) | |
| 6 | g.129481414G>A | CA365628367 | LAMA2 | c.7712G>A (p.Arg2571Lys) c.7988G>A (p.Arg2663Lys) c.7724G>A (p.Arg2575Lys) c.7721G>A (p.Arg2574Lys) c.7976G>A (p.Arg2659Lys) c.7982G>A (p.Arg2661Lys) c.7994G>A (p.Arg2665Lys) c.6119G>A (p.Arg2040Lys) | COSMIC |
| 6 | g.129481414G>C | CA365628368 | LAMA2 | c.7712G>C (p.Arg2571Thr) c.7988G>C (p.Arg2663Thr) c.7724G>C (p.Arg2575Thr) c.7721G>C (p.Arg2574Thr) c.7976G>C (p.Arg2659Thr) c.7982G>C (p.Arg2661Thr) c.7994G>C (p.Arg2665Thr) c.6119G>C (p.Arg2040Thr) | |
| 6 | g.129481414G>T | CA365628369 | LAMA2 | c.7712G>T (p.Arg2571Met) c.7988G>T (p.Arg2663Met) c.7724G>T (p.Arg2575Met) c.7721G>T (p.Arg2574Met) c.7976G>T (p.Arg2659Met) c.7982G>T (p.Arg2661Met) c.7994G>T (p.Arg2665Met) c.6119G>T (p.Arg2040Met) | |
| 6 | g.129481415G>A | CA3994641 | LAMA2 | c.7713G>A (p.Arg2571=) c.7989G>A (p.Arg2663=) c.7725G>A (p.Arg2575=) c.7722G>A (p.Arg2574=) c.7977G>A (p.Arg2659=) c.7983G>A (p.Arg2661=) c.7995G>A (p.Arg2665=) c.6120G>A (p.Arg2040=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129481415G>C | CA365628371 | LAMA2 | c.7713G>C (p.Arg2571Ser) c.7989G>C (p.Arg2663Ser) c.7725G>C (p.Arg2575Ser) c.7722G>C (p.Arg2574Ser) c.7977G>C (p.Arg2659Ser) c.7983G>C (p.Arg2661Ser) c.7995G>C (p.Arg2665Ser) c.6120G>C (p.Arg2040Ser) | |
| 6 | g.129481415G= | CA1663173866 | LAMA2 | c.7713G= (p.Arg2571=) c.7989G= (p.Arg2663=) c.7725G= (p.Arg2575=) c.7722G= (p.Arg2574=) c.7977G= (p.Arg2659=) c.7983G= (p.Arg2661=) c.7995G= (p.Arg2665=) c.6120G= (p.Arg2040=) | |
| 6 | g.129481415G>T | CA365628373 | LAMA2 | c.7713G>T (p.Arg2571Ser) c.7989G>T (p.Arg2663Ser) c.7725G>T (p.Arg2575Ser) c.7722G>T (p.Arg2574Ser) c.7977G>T (p.Arg2659Ser) c.7983G>T (p.Arg2661Ser) c.7995G>T (p.Arg2665Ser) c.6120G>T (p.Arg2040Ser) | |
| 6 | g.129481416A>C | CA451934095 | LAMA2 | c.7714A>C (p.Arg2572=) c.7990A>C (p.Arg2664=) c.7726A>C (p.Arg2576=) c.7723A>C (p.Arg2575=) c.7978A>C (p.Arg2660=) c.7984A>C (p.Arg2662=) c.7996A>C (p.Arg2666=) c.6121A>C (p.Arg2041=) | |
| 6 | g.129481416A>G | CA365628376 | LAMA2 | c.7714A>G (p.Arg2572Gly) c.7990A>G (p.Arg2664Gly) c.7726A>G (p.Arg2576Gly) c.7723A>G (p.Arg2575Gly) c.7978A>G (p.Arg2660Gly) c.7984A>G (p.Arg2662Gly) c.7996A>G (p.Arg2666Gly) c.6121A>G (p.Arg2041Gly) | |
| 6 | g.129481416A>T | CA365628377 | LAMA2 | c.7714A>T (p.Arg2572Ter) c.7990A>T (p.Arg2664Ter) c.7726A>T (p.Arg2576Ter) c.7723A>T (p.Arg2575Ter) c.7978A>T (p.Arg2660Ter) c.7984A>T (p.Arg2662Ter) c.7996A>T (p.Arg2666Ter) c.6121A>T (p.Arg2041Ter) | |
| 6 | g.129481417G>A | CA365628379 | LAMA2 | c.7715G>A (p.Arg2572Lys) c.7991G>A (p.Arg2664Lys) c.7727G>A (p.Arg2576Lys) c.7724G>A (p.Arg2575Lys) c.7979G>A (p.Arg2660Lys) c.7985G>A (p.Arg2662Lys) c.7997G>A (p.Arg2666Lys) c.6122G>A (p.Arg2041Lys) | |
| 6 | g.129481417G>C | CA365628381 | LAMA2 | c.7715G>C (p.Arg2572Thr) c.7991G>C (p.Arg2664Thr) c.7727G>C (p.Arg2576Thr) c.7724G>C (p.Arg2575Thr) c.7979G>C (p.Arg2660Thr) c.7985G>C (p.Arg2662Thr) c.7997G>C (p.Arg2666Thr) c.6122G>C (p.Arg2041Thr) | gnomAD v4 |
| 6 | g.129481417G= | CA1663173876 | LAMA2 | c.7715G= (p.Arg2572=) c.7991G= (p.Arg2664=) c.7727G= (p.Arg2576=) c.7724G= (p.Arg2575=) c.7979G= (p.Arg2660=) c.7985G= (p.Arg2662=) c.7997G= (p.Arg2666=) c.6122G= (p.Arg2041=) | |
| 6 | g.129481417G>T | CA3994642 | LAMA2 | c.7715G>T (p.Arg2572Ile) c.7991G>T (p.Arg2664Ile) c.7727G>T (p.Arg2576Ile) c.7724G>T (p.Arg2575Ile) c.7979G>T (p.Arg2660Ile) c.7985G>T (p.Arg2662Ile) c.7997G>T (p.Arg2666Ile) c.6122G>T (p.Arg2041Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.129481418A>C | CA365628384 | LAMA2 | c.7716A>C (p.Arg2572Ser) c.7992A>C (p.Arg2664Ser) c.7728A>C (p.Arg2576Ser) c.7725A>C (p.Arg2575Ser) c.7980A>C (p.Arg2660Ser) c.7986A>C (p.Arg2662Ser) c.7998A>C (p.Arg2666Ser) c.6123A>C (p.Arg2041Ser) | |
| 6 | g.129481418A>G | CA451934100 | LAMA2 | c.7716A>G (p.Arg2572=) c.7992A>G (p.Arg2664=) c.7728A>G (p.Arg2576=) c.7725A>G (p.Arg2575=) c.7980A>G (p.Arg2660=) c.7986A>G (p.Arg2662=) c.7998A>G (p.Arg2666=) c.6123A>G (p.Arg2041=) | |
| 6 | g.129481418A>T | CA365628386 | LAMA2 | c.7716A>T (p.Arg2572Ser) c.7992A>T (p.Arg2664Ser) c.7728A>T (p.Arg2576Ser) c.7725A>T (p.Arg2575Ser) c.7980A>T (p.Arg2660Ser) c.7986A>T (p.Arg2662Ser) c.7998A>T (p.Arg2666Ser) c.6123A>T (p.Arg2041Ser) | |
| 6 | g.129481419A>C | CA365628388 | LAMA2 | c.7717A>C (p.Lys2573Gln) c.7993A>C (p.Lys2665Gln) c.7729A>C (p.Lys2577Gln) c.7726A>C (p.Lys2576Gln) c.7981A>C (p.Lys2661Gln) c.7987A>C (p.Lys2663Gln) c.7999A>C (p.Lys2667Gln) c.6124A>C (p.Lys2042Gln) | |
| 6 | g.129481419A>G | CA365628390 | LAMA2 | c.7717A>G (p.Lys2573Glu) c.7993A>G (p.Lys2665Glu) c.7729A>G (p.Lys2577Glu) c.7726A>G (p.Lys2576Glu) c.7981A>G (p.Lys2661Glu) c.7987A>G (p.Lys2663Glu) c.7999A>G (p.Lys2667Glu) c.6124A>G (p.Lys2042Glu) | |
| 6 | g.129481419A>T | CA365628391 | LAMA2 | c.7717A>T (p.Lys2573Ter) c.7993A>T (p.Lys2665Ter) c.7729A>T (p.Lys2577Ter) c.7726A>T (p.Lys2576Ter) c.7981A>T (p.Lys2661Ter) c.7987A>T (p.Lys2663Ter) c.7999A>T (p.Lys2667Ter) c.6124A>T (p.Lys2042Ter) | |
| 6 | g.129481420A>C | CA365628395 | LAMA2 | c.7718A>C (p.Lys2573Thr) c.7994A>C (p.Lys2665Thr) c.7730A>C (p.Lys2577Thr) c.7727A>C (p.Lys2576Thr) c.7982A>C (p.Lys2661Thr) c.7988A>C (p.Lys2663Thr) c.8000A>C (p.Lys2667Thr) c.6125A>C (p.Lys2042Thr) | gnomAD v4 |
| 6 | g.129481420A>G | CA365628397 | LAMA2 | c.7718A>G (p.Lys2573Arg) c.7994A>G (p.Lys2665Arg) c.7730A>G (p.Lys2577Arg) c.7727A>G (p.Lys2576Arg) c.7982A>G (p.Lys2661Arg) c.7988A>G (p.Lys2663Arg) c.8000A>G (p.Lys2667Arg) c.6125A>G (p.Lys2042Arg) | |
| 6 | g.129481420A>T | CA365628393 | LAMA2 | c.7718A>T (p.Lys2573Ile) c.7994A>T (p.Lys2665Ile) c.7730A>T (p.Lys2577Ile) c.7727A>T (p.Lys2576Ile) c.7982A>T (p.Lys2661Ile) c.7988A>T (p.Lys2663Ile) c.8000A>T (p.Lys2667Ile) c.6125A>T (p.Lys2042Ile) | |
| 6 | g.129481421A>C | CA365628398 | LAMA2 | c.7719A>C (p.Lys2573Asn) c.7995A>C (p.Lys2665Asn) c.7731A>C (p.Lys2577Asn) c.7728A>C (p.Lys2576Asn) c.7983A>C (p.Lys2661Asn) c.7989A>C (p.Lys2663Asn) c.8001A>C (p.Lys2667Asn) c.6126A>C (p.Lys2042Asn) | |
| 6 | g.129481421A>G | CA451934103 | LAMA2 | c.7719A>G (p.Lys2573=) c.7995A>G (p.Lys2665=) c.7731A>G (p.Lys2577=) c.7728A>G (p.Lys2576=) c.7983A>G (p.Lys2661=) c.7989A>G (p.Lys2663=) c.8001A>G (p.Lys2667=) c.6126A>G (p.Lys2042=) | |
| 6 | g.129481421A>T | CA365628400 | LAMA2 | c.7719A>T (p.Lys2573Asn) c.7995A>T (p.Lys2665Asn) c.7731A>T (p.Lys2577Asn) c.7728A>T (p.Lys2576Asn) c.7983A>T (p.Lys2661Asn) c.7989A>T (p.Lys2663Asn) c.8001A>T (p.Lys2667Asn) c.6126A>T (p.Lys2042Asn) | |
| 6 | g.129481422C>A | CA451934104 | LAMA2 | c.7720C>A (p.Arg2574=) c.7996C>A (p.Arg2666=) c.7732C>A (p.Arg2578=) c.7729C>A (p.Arg2577=) c.7984C>A (p.Arg2662=) c.7990C>A (p.Arg2664=) c.8002C>A (p.Arg2668=) c.6127C>A (p.Arg2043=) | |
| 6 | g.129481422C= | CA1663173880 | LAMA2 | c.7720C= (p.Arg2574=) c.7996C= (p.Arg2666=) c.7732C= (p.Arg2578=) c.7729C= (p.Arg2577=) c.7984C= (p.Arg2662=) c.7990C= (p.Arg2664=) c.8002C= (p.Arg2668=) c.6127C= (p.Arg2043=) | |
| 6 | g.129481422C>G | CA365628402 | LAMA2 | c.7720C>G (p.Arg2574Gly) c.7996C>G (p.Arg2666Gly) c.7732C>G (p.Arg2578Gly) c.7729C>G (p.Arg2577Gly) c.7984C>G (p.Arg2662Gly) c.7990C>G (p.Arg2664Gly) c.8002C>G (p.Arg2668Gly) c.6127C>G (p.Arg2043Gly) | ClinVar dbSNP gnomAD v4 COSMIC |
| 6 | g.129481422C>T | CA220807 | LAMA2 | c.7720C>T (p.Arg2574Ter) c.7996C>T (p.Arg2666Ter) c.7732C>T (p.Arg2578Ter) c.7729C>T (p.Arg2577Ter) c.7984C>T (p.Arg2662Ter) c.7990C>T (p.Arg2664Ter) c.8002C>T (p.Arg2668Ter) c.6127C>T (p.Arg2043Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.129481423G>A | CA3994643 | LAMA2 | c.7721G>A (p.Arg2574Gln) c.7997G>A (p.Arg2666Gln) c.7733G>A (p.Arg2578Gln) c.7730G>A (p.Arg2577Gln) c.7985G>A (p.Arg2662Gln) c.7991G>A (p.Arg2664Gln) c.8003G>A (p.Arg2668Gln) c.6128G>A (p.Arg2043Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.129481423G>C | CA365628405 | LAMA2 | c.7721G>C (p.Arg2574Pro) c.7997G>C (p.Arg2666Pro) c.7733G>C (p.Arg2578Pro) c.7730G>C (p.Arg2577Pro) c.7985G>C (p.Arg2662Pro) c.7991G>C (p.Arg2664Pro) c.8003G>C (p.Arg2668Pro) c.6128G>C (p.Arg2043Pro) | |
| 6 | g.129481423G= | CA1663173886 | LAMA2 | c.7721G= (p.Arg2574=) c.7997G= (p.Arg2666=) c.7733G= (p.Arg2578=) c.7730G= (p.Arg2577=) c.7985G= (p.Arg2662=) c.7991G= (p.Arg2664=) c.8003G= (p.Arg2668=) c.6128G= (p.Arg2043=) | |
| 6 | g.129481423G>T | CA365628407 | LAMA2 | c.7721G>T (p.Arg2574Leu) c.7997G>T (p.Arg2666Leu) c.7733G>T (p.Arg2578Leu) c.7730G>T (p.Arg2577Leu) c.7985G>T (p.Arg2662Leu) c.7991G>T (p.Arg2664Leu) c.8003G>T (p.Arg2668Leu) c.6128G>T (p.Arg2043Leu) | |
| 6 | g.129481424A>C | CA451934106 | LAMA2 | c.7722A>C (p.Arg2574=) c.7998A>C (p.Arg2666=) c.7734A>C (p.Arg2578=) c.7731A>C (p.Arg2577=) c.7986A>C (p.Arg2662=) c.7992A>C (p.Arg2664=) c.8004A>C (p.Arg2668=) c.6129A>C (p.Arg2043=) | |
| 6 | g.129481424A>G | CA451934107 | LAMA2 | c.7722A>G (p.Arg2574=) c.7998A>G (p.Arg2666=) c.7734A>G (p.Arg2578=) c.7731A>G (p.Arg2577=) c.7986A>G (p.Arg2662=) c.7992A>G (p.Arg2664=) c.8004A>G (p.Arg2668=) c.6129A>G (p.Arg2043=) | |
| 6 | g.129481424A>T | CA451934109 | LAMA2 | c.7722A>T (p.Arg2574=) c.7998A>T (p.Arg2666=) c.7734A>T (p.Arg2578=) c.7731A>T (p.Arg2577=) c.7986A>T (p.Arg2662=) c.7992A>T (p.Arg2664=) c.8004A>T (p.Arg2668=) c.6129A>T (p.Arg2043=) | |
| 6 | g.129481425A>C | CA451934110 | LAMA2 | c.7723A>C (p.Arg2575=) c.7999A>C (p.Arg2667=) c.7735A>C (p.Arg2579=) c.7732A>C (p.Arg2578=) c.7987A>C (p.Arg2663=) c.7993A>C (p.Arg2665=) c.8005A>C (p.Arg2669=) c.6130A>C (p.Arg2044=) | |
| 6 | g.129481425A>G | CA365628409 | LAMA2 | c.7723A>G (p.Arg2575Gly) c.7999A>G (p.Arg2667Gly) c.7735A>G (p.Arg2579Gly) c.7732A>G (p.Arg2578Gly) c.7987A>G (p.Arg2663Gly) c.7993A>G (p.Arg2665Gly) c.8005A>G (p.Arg2669Gly) c.6130A>G (p.Arg2044Gly) | |
| 6 | g.129481425A>T | CA365628410 | LAMA2 | c.7723A>T (p.Arg2575Trp) c.7999A>T (p.Arg2667Trp) c.7735A>T (p.Arg2579Trp) c.7732A>T (p.Arg2578Trp) c.7987A>T (p.Arg2663Trp) c.7993A>T (p.Arg2665Trp) c.8005A>T (p.Arg2669Trp) c.6130A>T (p.Arg2044Trp) | |
| 6 | g.129481426G>A | CA365628412 | LAMA2 | c.7724G>A (p.Arg2575Lys) c.8000G>A (p.Arg2667Lys) c.7736G>A (p.Arg2579Lys) c.7733G>A (p.Arg2578Lys) c.7988G>A (p.Arg2663Lys) c.7994G>A (p.Arg2665Lys) c.8006G>A (p.Arg2669Lys) c.6131G>A (p.Arg2044Lys) | |
| 6 | g.129481426G>C | CA365628413 | LAMA2 | c.7724G>C (p.Arg2575Thr) c.8000G>C (p.Arg2667Thr) c.7736G>C (p.Arg2579Thr) c.7733G>C (p.Arg2578Thr) c.7988G>C (p.Arg2663Thr) c.7994G>C (p.Arg2665Thr) c.8006G>C (p.Arg2669Thr) c.6131G>C (p.Arg2044Thr) | |
| 6 | g.129481426G>T | CA365628415 | LAMA2 | c.7724G>T (p.Arg2575Met) c.8000G>T (p.Arg2667Met) c.7736G>T (p.Arg2579Met) c.7733G>T (p.Arg2578Met) c.7988G>T (p.Arg2663Met) c.7994G>T (p.Arg2665Met) c.8006G>T (p.Arg2669Met) c.6131G>T (p.Arg2044Met) | |
| 6 | g.129481427G>A | CA451934114 | LAMA2 | c.7725G>A (p.Arg2575=) c.8001G>A (p.Arg2667=) c.7737G>A (p.Arg2579=) c.7734G>A (p.Arg2578=) c.7989G>A (p.Arg2663=) c.7995G>A (p.Arg2665=) c.8007G>A (p.Arg2669=) c.6132G>A (p.Arg2044=) | ClinVar |
| 6 | g.129481427G>C | CA146905896 | LAMA2 | c.7725G>C (p.Arg2575Ser) c.8001G>C (p.Arg2667Ser) c.7737G>C (p.Arg2579Ser) c.7734G>C (p.Arg2578Ser) c.7989G>C (p.Arg2663Ser) c.7995G>C (p.Arg2665Ser) c.8007G>C (p.Arg2669Ser) c.6132G>C (p.Arg2044Ser) | dbSNP |
| 6 | g.129481427G= | CA1663173893 | LAMA2 | c.7725G= (p.Arg2575=) c.8001G= (p.Arg2667=) c.7737G= (p.Arg2579=) c.7734G= (p.Arg2578=) c.7989G= (p.Arg2663=) c.7995G= (p.Arg2665=) c.8007G= (p.Arg2669=) c.6132G= (p.Arg2044=) | |
| 6 | g.129481427G>T | CA365628417 | LAMA2 | c.7725G>T (p.Arg2575Ser) c.8001G>T (p.Arg2667Ser) c.7737G>T (p.Arg2579Ser) c.7734G>T (p.Arg2578Ser) c.7989G>T (p.Arg2663Ser) c.7995G>T (p.Arg2665Ser) c.8007G>T (p.Arg2669Ser) c.6132G>T (p.Arg2044Ser) | |
| 6 | g.129481428C>A | CA365628420 | LAMA2 | c.7726C>A (p.Gln2576Lys) c.8002C>A (p.Gln2668Lys) c.7738C>A (p.Gln2580Lys) c.7735C>A (p.Gln2579Lys) c.7990C>A (p.Gln2664Lys) c.7996C>A (p.Gln2666Lys) c.8008C>A (p.Gln2670Lys) c.6133C>A (p.Gln2045Lys) | |
| 6 | g.129481428C>G | CA365628422 | LAMA2 | c.7726C>G (p.Gln2576Glu) c.8002C>G (p.Gln2668Glu) c.7738C>G (p.Gln2580Glu) c.7735C>G (p.Gln2579Glu) c.7990C>G (p.Gln2664Glu) c.7996C>G (p.Gln2666Glu) c.8008C>G (p.Gln2670Glu) c.6133C>G (p.Gln2045Glu) | |
| 6 | g.129481428C>T | CA365628424 | LAMA2 | c.7726C>T (p.Gln2576Ter) c.8002C>T (p.Gln2668Ter) c.7738C>T (p.Gln2580Ter) c.7735C>T (p.Gln2579Ter) c.7990C>T (p.Gln2664Ter) c.7996C>T (p.Gln2666Ter) c.8008C>T (p.Gln2670Ter) c.6133C>T (p.Gln2045Ter) | |
| 6 | g.129481429A>C | CA365628426 | LAMA2 | c.7727A>C (p.Gln2576Pro) c.8003A>C (p.Gln2668Pro) c.7739A>C (p.Gln2580Pro) c.7736A>C (p.Gln2579Pro) c.7991A>C (p.Gln2664Pro) c.7997A>C (p.Gln2666Pro) c.8009A>C (p.Gln2670Pro) c.6134A>C (p.Gln2045Pro) | |
| 6 | g.129481429A>G | CA365628428 | LAMA2 | c.7727A>G (p.Gln2576Arg) c.8003A>G (p.Gln2668Arg) c.7739A>G (p.Gln2580Arg) c.7736A>G (p.Gln2579Arg) c.7991A>G (p.Gln2664Arg) c.7997A>G (p.Gln2666Arg) c.8009A>G (p.Gln2670Arg) c.6134A>G (p.Gln2045Arg) | |
| 6 | g.129481429A>T | CA365628429 | LAMA2 | c.7727A>T (p.Gln2576Leu) c.8003A>T (p.Gln2668Leu) c.7739A>T (p.Gln2580Leu) c.7736A>T (p.Gln2579Leu) c.7991A>T (p.Gln2664Leu) c.7997A>T (p.Gln2666Leu) c.8009A>T (p.Gln2670Leu) c.6134A>T (p.Gln2045Leu) | |
| 6 | g.129481430G>A | CA451934120 | LAMA2 | c.7728G>A (p.Gln2576=) c.8004G>A (p.Gln2668=) c.7740G>A (p.Gln2580=) c.7737G>A (p.Gln2579=) c.7992G>A (p.Gln2664=) c.7998G>A (p.Gln2666=) c.8010G>A (p.Gln2670=) c.6135G>A (p.Gln2045=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129481430G>C | CA365628431 | LAMA2 | c.7728G>C (p.Gln2576His) c.8004G>C (p.Gln2668His) c.7740G>C (p.Gln2580His) c.7737G>C (p.Gln2579His) c.7992G>C (p.Gln2664His) c.7998G>C (p.Gln2666His) c.8010G>C (p.Gln2670His) c.6135G>C (p.Gln2045His) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129481430G= | CA1663173898 | LAMA2 | c.7728G= (p.Gln2576=) c.8004G= (p.Gln2668=) c.7740G= (p.Gln2580=) c.7737G= (p.Gln2579=) c.7992G= (p.Gln2664=) c.7998G= (p.Gln2666=) c.8010G= (p.Gln2670=) c.6135G= (p.Gln2045=) | |
| 6 | g.129481430G>T | CA365628432 | LAMA2 | c.7728G>T (p.Gln2576His) c.8004G>T (p.Gln2668His) c.7740G>T (p.Gln2580His) c.7737G>T (p.Gln2579His) c.7992G>T (p.Gln2664His) c.7998G>T (p.Gln2666His) c.8010G>T (p.Gln2670His) c.6135G>T (p.Gln2045His) | |
| 6 | g.129481431A= | CA1663173904 | LAMA2 | c.7729A= (p.Thr2577=) c.8005A= (p.Thr2669=) c.7741A= (p.Thr2581=) c.7738A= (p.Thr2580=) c.7993A= (p.Thr2665=) c.7999A= (p.Thr2667=) c.8011A= (p.Thr2671=) c.6136A= (p.Thr2046=) | |
| 6 | g.129481431A>C | CA365628434 | LAMA2 | c.7729A>C (p.Thr2577Pro) c.8005A>C (p.Thr2669Pro) c.7741A>C (p.Thr2581Pro) c.7738A>C (p.Thr2580Pro) c.7993A>C (p.Thr2665Pro) c.7999A>C (p.Thr2667Pro) c.8011A>C (p.Thr2671Pro) c.6136A>C (p.Thr2046Pro) | |
| 6 | g.129481431A>G | CA365628436 | LAMA2 | c.7729A>G (p.Thr2577Ala) c.8005A>G (p.Thr2669Ala) c.7741A>G (p.Thr2581Ala) c.7738A>G (p.Thr2580Ala) c.7993A>G (p.Thr2665Ala) c.7999A>G (p.Thr2667Ala) c.8011A>G (p.Thr2671Ala) c.6136A>G (p.Thr2046Ala) | |
| 6 | g.129481431A>T | CA365628438 | LAMA2 | c.7729A>T (p.Thr2577Ser) c.8005A>T (p.Thr2669Ser) c.7741A>T (p.Thr2581Ser) c.7738A>T (p.Thr2580Ser) c.7993A>T (p.Thr2665Ser) c.7999A>T (p.Thr2667Ser) c.8011A>T (p.Thr2671Ser) c.6136A>T (p.Thr2046Ser) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129481432C>A | CA365628441 | LAMA2 | c.7730C>A (p.Thr2577Asn) c.8006C>A (p.Thr2669Asn) c.7742C>A (p.Thr2581Asn) c.7739C>A (p.Thr2580Asn) c.7994C>A (p.Thr2665Asn) c.8000C>A (p.Thr2667Asn) c.8012C>A (p.Thr2671Asn) c.6137C>A (p.Thr2046Asn) | |
| 6 | g.129481432C= | CA1663173907 | LAMA2 | c.7730C= (p.Thr2577=) c.8006C= (p.Thr2669=) c.7742C= (p.Thr2581=) c.7739C= (p.Thr2580=) c.7994C= (p.Thr2665=) c.8000C= (p.Thr2667=) c.8012C= (p.Thr2671=) c.6137C= (p.Thr2046=) | |
| 6 | g.129481432C>G | CA365628442 | LAMA2 | c.7730C>G (p.Thr2577Ser) c.8006C>G (p.Thr2669Ser) c.7742C>G (p.Thr2581Ser) c.7739C>G (p.Thr2580Ser) c.7994C>G (p.Thr2665Ser) c.8000C>G (p.Thr2667Ser) c.8012C>G (p.Thr2671Ser) c.6137C>G (p.Thr2046Ser) | |
| 6 | g.129481432C>T | CA365628443 | LAMA2 | c.7730C>T (p.Thr2577Ile) c.8006C>T (p.Thr2669Ile) c.7742C>T (p.Thr2581Ile) c.7739C>T (p.Thr2580Ile) c.7994C>T (p.Thr2665Ile) c.8000C>T (p.Thr2667Ile) c.8012C>T (p.Thr2671Ile) c.6137C>T (p.Thr2046Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129481433T>A | CA451934122 | LAMA2 | c.7731T>A (p.Thr2577=) c.8007T>A (p.Thr2669=) c.7743T>A (p.Thr2581=) c.7740T>A (p.Thr2580=) c.7995T>A (p.Thr2665=) c.8001T>A (p.Thr2667=) c.8013T>A (p.Thr2671=) c.6138T>A (p.Thr2046=) | |
| 6 | g.129481433T>C | CA451934124 | LAMA2 | c.7731T>C (p.Thr2577=) c.8007T>C (p.Thr2669=) c.7743T>C (p.Thr2581=) c.7740T>C (p.Thr2580=) c.7995T>C (p.Thr2665=) c.8001T>C (p.Thr2667=) c.8013T>C (p.Thr2671=) c.6138T>C (p.Thr2046=) | |
| 6 | g.129481433T>G | CA451934125 | LAMA2 | c.7731T>G (p.Thr2577=) c.8007T>G (p.Thr2669=) c.7743T>G (p.Thr2581=) c.7740T>G (p.Thr2580=) c.7995T>G (p.Thr2665=) c.8001T>G (p.Thr2667=) c.8013T>G (p.Thr2671=) c.6138T>G (p.Thr2046=) | |
| 6 | g.129481434G>A | CA365628448 | LAMA2 | c.7732G>A (p.Gly2578Arg) c.8008G>A (p.Gly2670Arg) c.7744G>A (p.Gly2582Arg) c.7741G>A (p.Gly2581Arg) c.7996G>A (p.Gly2666Arg) c.8002G>A (p.Gly2668Arg) c.8014G>A (p.Gly2672Arg) c.6139G>A (p.Gly2047Arg) | |
| 6 | g.129481434G>C | CA365628450 | LAMA2 | c.7732G>C (p.Gly2578Arg) c.8008G>C (p.Gly2670Arg) c.7744G>C (p.Gly2582Arg) c.7741G>C (p.Gly2581Arg) c.7996G>C (p.Gly2666Arg) c.8002G>C (p.Gly2668Arg) c.8014G>C (p.Gly2672Arg) c.6139G>C (p.Gly2047Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129481434G= | CA1663173909 | LAMA2 | c.7732G= (p.Gly2578=) c.8008G= (p.Gly2670=) c.7744G= (p.Gly2582=) c.7741G= (p.Gly2581=) c.7996G= (p.Gly2666=) c.8002G= (p.Gly2668=) c.8014G= (p.Gly2672=) c.6139G= (p.Gly2047=) | |
| 6 | g.129481434G>T | CA365628446 | LAMA2 | c.7732G>T (p.Gly2578Ter) c.8008G>T (p.Gly2670Ter) c.7744G>T (p.Gly2582Ter) c.7741G>T (p.Gly2581Ter) c.7996G>T (p.Gly2666Ter) c.8002G>T (p.Gly2668Ter) c.8014G>T (p.Gly2672Ter) c.6139G>T (p.Gly2047Ter) | |
| 6 | g.129481435G>A | CA365628456 | LAMA2 | c.7733G>A (p.Gly2578Glu) c.8009G>A (p.Gly2670Glu) c.7745G>A (p.Gly2582Glu) c.7742G>A (p.Gly2581Glu) c.7997G>A (p.Gly2666Glu) c.8003G>A (p.Gly2668Glu) c.8015G>A (p.Gly2672Glu) c.6140G>A (p.Gly2047Glu) | |
| 6 | g.129481435G>C | CA365628453 | LAMA2 | c.7733G>C (p.Gly2578Ala) c.8009G>C (p.Gly2670Ala) c.7745G>C (p.Gly2582Ala) c.7742G>C (p.Gly2581Ala) c.7997G>C (p.Gly2666Ala) c.8003G>C (p.Gly2668Ala) c.8015G>C (p.Gly2672Ala) c.6140G>C (p.Gly2047Ala) | |
| 6 | g.129481435G>T | CA365628454 | LAMA2 | c.7733G>T (p.Gly2578Val) c.8009G>T (p.Gly2670Val) c.7745G>T (p.Gly2582Val) c.7742G>T (p.Gly2581Val) c.7997G>T (p.Gly2666Val) c.8003G>T (p.Gly2668Val) c.8015G>T (p.Gly2672Val) c.6140G>T (p.Gly2047Val) | |
| 6 | g.129481436A>C | CA451934130 | LAMA2 | c.7734A>C (p.Gly2578=) c.8010A>C (p.Gly2670=) c.7746A>C (p.Gly2582=) c.7743A>C (p.Gly2581=) c.7998A>C (p.Gly2666=) c.8004A>C (p.Gly2668=) c.8016A>C (p.Gly2672=) c.6141A>C (p.Gly2047=) | |
| 6 | g.129481436A>G | CA451934132 | LAMA2 | c.7734A>G (p.Gly2578=) c.8010A>G (p.Gly2670=) c.7746A>G (p.Gly2582=) c.7743A>G (p.Gly2581=) c.7998A>G (p.Gly2666=) c.8004A>G (p.Gly2668=) c.8016A>G (p.Gly2672=) c.6141A>G (p.Gly2047=) | |
| 6 | g.129481436A>T | CA451934133 | LAMA2 | c.7734A>T (p.Gly2578=) c.8010A>T (p.Gly2670=) c.7746A>T (p.Gly2582=) c.7743A>T (p.Gly2581=) c.7998A>T (p.Gly2666=) c.8004A>T (p.Gly2668=) c.8016A>T (p.Gly2672=) c.6141A>T (p.Gly2047=) | |
| 6 | g.129481437C>A | CA365628458 | LAMA2 | c.7735C>A (p.Gln2579Lys) c.8011C>A (p.Gln2671Lys) c.7747C>A (p.Gln2583Lys) c.7744C>A (p.Gln2582Lys) c.7999C>A (p.Gln2667Lys) c.8005C>A (p.Gln2669Lys) c.8017C>A (p.Gln2673Lys) c.6142C>A (p.Gln2048Lys) | |
| 6 | g.129481437C>G | CA365628460 | LAMA2 | c.7735C>G (p.Gln2579Glu) c.8011C>G (p.Gln2671Glu) c.7747C>G (p.Gln2583Glu) c.7744C>G (p.Gln2582Glu) c.7999C>G (p.Gln2667Glu) c.8005C>G (p.Gln2669Glu) c.8017C>G (p.Gln2673Glu) c.6142C>G (p.Gln2048Glu) | gnomAD v4 |
| 6 | g.129481437C>T | CA365628462 | LAMA2 | c.7735C>T (p.Gln2579Ter) c.8011C>T (p.Gln2671Ter) c.7747C>T (p.Gln2583Ter) c.7744C>T (p.Gln2582Ter) c.7999C>T (p.Gln2667Ter) c.8005C>T (p.Gln2669Ter) c.8017C>T (p.Gln2673Ter) c.6142C>T (p.Gln2048Ter) | |
| 6 | g.129481438A>C | CA365628465 | LAMA2 | c.7736A>C (p.Gln2579Pro) c.8012A>C (p.Gln2671Pro) c.7748A>C (p.Gln2583Pro) c.7745A>C (p.Gln2582Pro) c.8000A>C (p.Gln2667Pro) c.8006A>C (p.Gln2669Pro) c.8018A>C (p.Gln2673Pro) c.6143A>C (p.Gln2048Pro) | |
| 6 | g.129481438A>G | CA365628466 | LAMA2 | c.7736A>G (p.Gln2579Arg) c.8012A>G (p.Gln2671Arg) c.7748A>G (p.Gln2583Arg) c.7745A>G (p.Gln2582Arg) c.8000A>G (p.Gln2667Arg) c.8006A>G (p.Gln2669Arg) c.8018A>G (p.Gln2673Arg) c.6143A>G (p.Gln2048Arg) | |
| 6 | g.129481438A>T | CA365628468 | LAMA2 | c.7736A>T (p.Gln2579Leu) c.8012A>T (p.Gln2671Leu) c.7748A>T (p.Gln2583Leu) c.7745A>T (p.Gln2582Leu) c.8000A>T (p.Gln2667Leu) c.8006A>T (p.Gln2669Leu) c.8018A>T (p.Gln2673Leu) c.6143A>T (p.Gln2048Leu) | |
| 6 | g.129481439G>A | CA451934134 | LAMA2 | c.7737G>A (p.Gln2579=) c.8013G>A (p.Gln2671=) c.7749G>A (p.Gln2583=) c.7746G>A (p.Gln2582=) c.8001G>A (p.Gln2667=) c.8007G>A (p.Gln2669=) c.8019G>A (p.Gln2673=) c.6144G>A (p.Gln2048=) | |
| 6 | g.129481439G>C | CA365628471 | LAMA2 | c.7737G>C (p.Gln2579His) c.8013G>C (p.Gln2671His) c.7749G>C (p.Gln2583His) c.7746G>C (p.Gln2582His) c.8001G>C (p.Gln2667His) c.8007G>C (p.Gln2669His) c.8019G>C (p.Gln2673His) c.6144G>C (p.Gln2048His) | |
| 6 | g.129481439G>T | CA365628472 | LAMA2 | c.7737G>T (p.Gln2579His) c.8013G>T (p.Gln2671His) c.7749G>T (p.Gln2583His) c.7746G>T (p.Gln2582His) c.8001G>T (p.Gln2667His) c.8007G>T (p.Gln2669His) c.8019G>T (p.Gln2673His) c.6144G>T (p.Gln2048His) | COSMIC |
| 6 | g.129481440G>A | CA365628476 | LAMA2 | c.7737+1G>A (n.7737+1G>A) c.8013+1G>A (n.8013+1G>A) c.7749+1G>A (n.7749+1G>A) c.7746+1G>A (n.7746+1G>A) c.8001+1G>A (n.8001+1G>A) c.8007+1G>A (n.8007+1G>A) c.8019+1G>A (n.8019+1G>A) c.6144+1G>A (n.6144+1G>A) | |
| 6 | g.129481440G>C | CA365628477 | LAMA2 | c.7737+1G>C (n.7737+1G>C) c.8013+1G>C (n.8013+1G>C) c.7749+1G>C (n.7749+1G>C) c.7746+1G>C (n.7746+1G>C) c.8001+1G>C (n.8001+1G>C) c.8007+1G>C (n.8007+1G>C) c.8019+1G>C (n.8019+1G>C) c.6144+1G>C (n.6144+1G>C) | ClinVar |
| 6 | g.129481440G>T | CA365628479 | LAMA2 | c.7737+1G>T (n.7737+1G>T) c.8013+1G>T (n.8013+1G>T) c.7749+1G>T (n.7749+1G>T) c.7746+1G>T (n.7746+1G>T) c.8001+1G>T (n.8001+1G>T) c.8007+1G>T (n.8007+1G>T) c.8019+1G>T (n.8019+1G>T) c.6144+1G>T (n.6144+1G>T) | ClinVar |
| 6 | g.129481441T>A | CA365628484 | LAMA2 | c.7737+2T>A (n.7737+2T>A) c.8013+2T>A (n.8013+2T>A) c.7749+2T>A (n.7749+2T>A) c.7746+2T>A (n.7746+2T>A) c.8001+2T>A (n.8001+2T>A) c.8007+2T>A (n.8007+2T>A) c.8019+2T>A (n.8019+2T>A) c.6144+2T>A (n.6144+2T>A) | |
| 6 | g.129481441T>C | CA365628482 | LAMA2 | c.7737+2T>C (n.7737+2T>C) c.8013+2T>C (n.8013+2T>C) c.7749+2T>C (n.7749+2T>C) c.7746+2T>C (n.7746+2T>C) c.8001+2T>C (n.8001+2T>C) c.8007+2T>C (n.8007+2T>C) c.8019+2T>C (n.8019+2T>C) c.6144+2T>C (n.6144+2T>C) | |
| 6 | g.129481441T>G | CA365628483 | LAMA2 | c.7737+2T>G (n.7737+2T>G) c.8013+2T>G (n.8013+2T>G) c.7749+2T>G (n.7749+2T>G) c.7746+2T>G (n.7746+2T>G) c.8001+2T>G (n.8001+2T>G) c.8007+2T>G (n.8007+2T>G) c.8019+2T>G (n.8019+2T>G) c.6144+2T>G (n.6144+2T>G) | |
| 6 | g.129481442A= | CA1663173912 | LAMA2 | c.7737+3A= (n.7737+3A=) c.8013+3A= (n.8013+3A=) c.7749+3A= (n.7749+3A=) c.7746+3A= (n.7746+3A=) c.8001+3A= (n.8001+3A=) c.8007+3A= (n.8007+3A=) c.8019+3A= (n.8019+3A=) c.6144+3A= (n.6144+3A=) | |
| 6 | g.129481442A>G | CA3994644 | LAMA2 | c.7737+3A>G (n.7737+3A>G) c.8013+3A>G (n.8013+3A>G) c.7749+3A>G (n.7749+3A>G) c.7746+3A>G (n.7746+3A>G) c.8001+3A>G (n.8001+3A>G) c.8007+3A>G (n.8007+3A>G) c.8019+3A>G (n.8019+3A>G) c.6144+3A>G (n.6144+3A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129481442_129481443delinsAC | CA1663173913 | LAMA2 | c.7737+3_7737+4delinsAC (n.7737+3_7737+4delinsAC) c.8013+3_8013+4delinsAC (n.8013+3_8013+4delinsAC) c.7749+3_7749+4delinsAC (n.7749+3_7749+4delinsAC) c.7746+3_7746+4delinsAC (n.7746+3_7746+4delinsAC) c.8001+3_8001+4delinsAC (n.8001+3_8001+4delinsAC) c.8007+3_8007+4delinsAC (n.8007+3_8007+4delinsAC) c.8019+3_8019+4delinsAC (n.8019+3_8019+4delinsAC) c.6144+3_6144+4delinsAC (n.6144+3_6144+4delinsAC) | |
| 6 | g.129481443C>A | CA2680317672 | LAMA2 | c.7737+4C>A (n.7737+4C>A) c.8013+4C>A (n.8013+4C>A) c.7749+4C>A (n.7749+4C>A) c.7746+4C>A (n.7746+4C>A) c.8001+4C>A (n.8001+4C>A) c.8007+4C>A (n.8007+4C>A) c.8019+4C>A (n.8019+4C>A) c.6144+4C>A (n.6144+4C>A) | gnomAD v4 |
| 6 | g.129481443C= | CA1663173916 | LAMA2 | c.7737+4C= (n.7737+4C=) c.8013+4C= (n.8013+4C=) c.7749+4C= (n.7749+4C=) c.7746+4C= (n.7746+4C=) c.8001+4C= (n.8001+4C=) c.8007+4C= (n.8007+4C=) c.8019+4C= (n.8019+4C=) c.6144+4C= (n.6144+4C=) | |
| 6 | g.129481443C>T | CA3994645 | LAMA2 | c.7737+4C>T (n.7737+4C>T) c.8013+4C>T (n.8013+4C>T) c.7749+4C>T (n.7749+4C>T) c.7746+4C>T (n.7746+4C>T) c.8001+4C>T (n.8001+4C>T) c.8007+4C>T (n.8007+4C>T) c.8019+4C>T (n.8019+4C>T) c.6144+4C>T (n.6144+4C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129481445del | CA1663173914 | LAMA2 | c.7737+6del (n.7737+6del) c.8013+6del (n.8013+6del) c.7749+6del (n.7749+6del) c.7746+6del (n.7746+6del) c.8001+6del (n.8001+6del) c.8007+6del (n.8007+6del) c.8019+6del (n.8019+6del) c.6144+6del (n.6144+6del) | dbSNP |
| 6 | g.129481443_129481450delinsCCCTCACA | CA1663173918 | LAMA2 | c.7737+4_7737+11delinsCCCTCACA (n.7737+4_7737+11delinsCCCTCACA) c.8013+4_8013+11delinsCCCTCACA (n.8013+4_8013+11delinsCCCTCACA) c.7749+4_7749+11delinsCCCTCACA (n.7749+4_7749+11delinsCCCTCACA) c.7746+4_7746+11delinsCCCTCACA (n.7746+4_7746+11delinsCCCTCACA) c.8001+4_8001+11delinsCCCTCACA (n.8001+4_8001+11delinsCCCTCACA) c.8007+4_8007+11delinsCCCTCACA (n.8007+4_8007+11delinsCCCTCACA) c.8019+4_8019+11delinsCCCTCACA (n.8019+4_8019+11delinsCCCTCACA) c.6144+4_6144+11delinsCCCTCACA (n.6144+4_6144+11delinsCCCTCACA) | |
| 6 | g.129481444C>A | CA2680317673 | LAMA2 | c.7737+5C>A (n.7737+5C>A) c.8013+5C>A (n.8013+5C>A) c.7749+5C>A (n.7749+5C>A) c.7746+5C>A (n.7746+5C>A) c.8001+5C>A (n.8001+5C>A) c.8007+5C>A (n.8007+5C>A) c.8019+5C>A (n.8019+5C>A) c.6144+5C>A (n.6144+5C>A) | gnomAD v4 |
| 6 | g.129481444C= | CA1663173920 | LAMA2 | c.7737+5C= (n.7737+5C=) c.8013+5C= (n.8013+5C=) c.7749+5C= (n.7749+5C=) c.7746+5C= (n.7746+5C=) c.8001+5C= (n.8001+5C=) c.8007+5C= (n.8007+5C=) c.8019+5C= (n.8019+5C=) c.6144+5C= (n.6144+5C=) | |
| 6 | g.129481444C>G | CA1663173921 | LAMA2 | c.7737+5C>G (n.7737+5C>G) c.8013+5C>G (n.8013+5C>G) c.7749+5C>G (n.7749+5C>G) c.7746+5C>G (n.7746+5C>G) c.8001+5C>G (n.8001+5C>G) c.8007+5C>G (n.8007+5C>G) c.8019+5C>G (n.8019+5C>G) c.6144+5C>G (n.6144+5C>G) | dbSNP |
| 6 | g.129481444C>T | CA2578737936 | LAMA2 | c.7737+5C>T (n.7737+5C>T) c.8013+5C>T (n.8013+5C>T) c.7749+5C>T (n.7749+5C>T) c.7746+5C>T (n.7746+5C>T) c.8001+5C>T (n.8001+5C>T) c.8007+5C>T (n.8007+5C>T) c.8019+5C>T (n.8019+5C>T) c.6144+5C>T (n.6144+5C>T) | gnomAD v4 |
| 6 | g.129481447_129481453del | CA570205708 | LAMA2 | c.7737+8_7737+14del (n.7737+8_7737+14del) c.8013+8_8013+14del (n.8013+8_8013+14del) c.7749+8_7749+14del (n.7749+8_7749+14del) c.7746+8_7746+14del (n.7746+8_7746+14del) c.8001+8_8001+14del (n.8001+8_8001+14del) c.8007+8_8007+14del (n.8007+8_8007+14del) c.8019+8_8019+14del (n.8019+8_8019+14del) c.6144+8_6144+14del (n.6144+8_6144+14del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129481445C>A | CA451934141 | LAMA2 | c.7737+6C>A (n.7737+6C>A) c.8013+6C>A (n.8013+6C>A) c.7749+6C>A (n.7749+6C>A) c.7746+6C>A (n.7746+6C>A) c.8001+6C>A (n.8001+6C>A) c.8007+6C>A (n.8007+6C>A) c.8019+6C>A (n.8019+6C>A) c.6144+6C>A (n.6144+6C>A) | gnomAD v4 |
| 6 | g.129481445C= | CA1663173926 | LAMA2 | c.7737+6C= (n.7737+6C=) c.8013+6C= (n.8013+6C=) c.7749+6C= (n.7749+6C=) c.7746+6C= (n.7746+6C=) c.8001+6C= (n.8001+6C=) c.8007+6C= (n.8007+6C=) c.8019+6C= (n.8019+6C=) c.6144+6C= (n.6144+6C=) | |
| 6 | g.129481445C>G | CA2504820424 | LAMA2 | c.7737+6C>G (n.7737+6C>G) c.8013+6C>G (n.8013+6C>G) c.7749+6C>G (n.7749+6C>G) c.7746+6C>G (n.7746+6C>G) c.8001+6C>G (n.8001+6C>G) c.8007+6C>G (n.8007+6C>G) c.8019+6C>G (n.8019+6C>G) c.6144+6C>G (n.6144+6C>G) | |
| 6 | g.129481445C>T | CA1094398460 | LAMA2 | c.7737+6C>T (n.7737+6C>T) c.8013+6C>T (n.8013+6C>T) c.7749+6C>T (n.7749+6C>T) c.7746+6C>T (n.7746+6C>T) c.8001+6C>T (n.8001+6C>T) c.8007+6C>T (n.8007+6C>T) c.8019+6C>T (n.8019+6C>T) c.6144+6C>T (n.6144+6C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129481446T>C | CA2573140496 | LAMA2 | c.7737+7T>C (n.7737+7T>C) c.8013+7T>C (n.8013+7T>C) c.7749+7T>C (n.7749+7T>C) c.7746+7T>C (n.7746+7T>C) c.8001+7T>C (n.8001+7T>C) c.8007+7T>C (n.8007+7T>C) c.8019+7T>C (n.8019+7T>C) c.6144+7T>C (n.6144+7T>C) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129481447C>A | CA1663173929 | LAMA2 | c.7737+8C>A (n.7737+8C>A) c.8013+8C>A (n.8013+8C>A) c.7749+8C>A (n.7749+8C>A) c.7746+8C>A (n.7746+8C>A) c.8001+8C>A (n.8001+8C>A) c.8007+8C>A (n.8007+8C>A) c.8019+8C>A (n.8019+8C>A) c.6144+8C>A (n.6144+8C>A) | ClinVar dbSNP |
| 6 | g.129481447C= | CA1663173928 | LAMA2 | c.7737+8C= (n.7737+8C=) c.8013+8C= (n.8013+8C=) c.7749+8C= (n.7749+8C=) c.7746+8C= (n.7746+8C=) c.8001+8C= (n.8001+8C=) c.8007+8C= (n.8007+8C=) c.8019+8C= (n.8019+8C=) c.6144+8C= (n.6144+8C=) | |
| 6 | g.129481447C>T | CA1663173930 | LAMA2 | c.7737+8C>T (n.7737+8C>T) c.8013+8C>T (n.8013+8C>T) c.7749+8C>T (n.7749+8C>T) c.7746+8C>T (n.7746+8C>T) c.8001+8C>T (n.8001+8C>T) c.8007+8C>T (n.8007+8C>T) c.8019+8C>T (n.8019+8C>T) c.6144+8C>T (n.6144+8C>T) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129481450_129481451del | CA2578737937 | LAMA2 | c.7737+11_7737+12del (n.7737+11_7737+12del) c.8013+11_8013+12del (n.8013+11_8013+12del) c.7749+11_7749+12del (n.7749+11_7749+12del) c.7746+11_7746+12del (n.7746+11_7746+12del) c.8001+11_8001+12del (n.8001+11_8001+12del) c.8007+11_8007+12del (n.8007+11_8007+12del) c.8019+11_8019+12del (n.8019+11_8019+12del) c.6144+11_6144+12del (n.6144+11_6144+12del) | |
| 6 | g.129481448A>C | CA2522740081 | LAMA2 | c.7737+9A>C (n.7737+9A>C) c.8013+9A>C (n.8013+9A>C) c.7749+9A>C (n.7749+9A>C) c.7746+9A>C (n.7746+9A>C) c.8001+9A>C (n.8001+9A>C) c.8007+9A>C (n.8007+9A>C) c.8019+9A>C (n.8019+9A>C) c.6144+9A>C (n.6144+9A>C) | |
| 6 | g.129481449C>T | CA2680317674 | LAMA2 | c.7737+10C>T (n.7737+10C>T) c.8013+10C>T (n.8013+10C>T) c.7749+10C>T (n.7749+10C>T) c.7746+10C>T (n.7746+10C>T) c.8001+10C>T (n.8001+10C>T) c.8007+10C>T (n.8007+10C>T) c.8019+10C>T (n.8019+10C>T) c.6144+10C>T (n.6144+10C>T) | gnomAD v4 |
| 6 | g.129481451C>A | CA1663173933 | LAMA2 | c.7737+12C>A (n.7737+12C>A) c.8013+12C>A (n.8013+12C>A) c.7749+12C>A (n.7749+12C>A) c.7746+12C>A (n.7746+12C>A) c.8001+12C>A (n.8001+12C>A) c.8007+12C>A (n.8007+12C>A) c.8019+12C>A (n.8019+12C>A) c.6144+12C>A (n.6144+12C>A) | dbSNP gnomAD v4 |
| 6 | g.129481451C= | CA1663173932 | LAMA2 | c.7737+12C= (n.7737+12C=) c.8013+12C= (n.8013+12C=) c.7749+12C= (n.7749+12C=) c.7746+12C= (n.7746+12C=) c.8001+12C= (n.8001+12C=) c.8007+12C= (n.8007+12C=) c.8019+12C= (n.8019+12C=) c.6144+12C= (n.6144+12C=) | |
| 6 | g.129481451C>G | CA2680317675 | LAMA2 | c.7737+12C>G (n.7737+12C>G) c.8013+12C>G (n.8013+12C>G) c.7749+12C>G (n.7749+12C>G) c.7746+12C>G (n.7746+12C>G) c.8001+12C>G (n.8001+12C>G) c.8007+12C>G (n.8007+12C>G) c.8019+12C>G (n.8019+12C>G) c.6144+12C>G (n.6144+12C>G) | gnomAD v4 |
| 6 | g.129481451C>T | CA146905907 | LAMA2 | c.7737+12C>T (n.7737+12C>T) c.8013+12C>T (n.8013+12C>T) c.7749+12C>T (n.7749+12C>T) c.7746+12C>T (n.7746+12C>T) c.8001+12C>T (n.8001+12C>T) c.8007+12C>T (n.8007+12C>T) c.8019+12C>T (n.8019+12C>T) c.6144+12C>T (n.6144+12C>T) | ClinVar dbSNP |
| 6 | g.129481451_129481452insGA | CA2739266123 | LAMA2 | c.7737+12_7737+13insGA (n.7737+12_7737+13insGA) c.8013+12_8013+13insGA (n.8013+12_8013+13insGA) c.7749+12_7749+13insGA (n.7749+12_7749+13insGA) c.7746+12_7746+13insGA (n.7746+12_7746+13insGA) c.8001+12_8001+13insGA (n.8001+12_8001+13insGA) c.8007+12_8007+13insGA (n.8007+12_8007+13insGA) c.8019+12_8019+13insGA (n.8019+12_8019+13insGA) c.6144+12_6144+13insGA (n.6144+12_6144+13insGA) | ClinVar |
| 6 | g.129481452C>A | CA2680317676 | LAMA2 | c.7737+13C>A (n.7737+13C>A) c.8013+13C>A (n.8013+13C>A) c.7749+13C>A (n.7749+13C>A) c.7746+13C>A (n.7746+13C>A) c.8001+13C>A (n.8001+13C>A) c.8007+13C>A (n.8007+13C>A) c.8019+13C>A (n.8019+13C>A) c.6144+13C>A (n.6144+13C>A) | gnomAD v4 |
| 6 | g.129481452C>G | CA2680317677 | LAMA2 | c.7737+13C>G (n.7737+13C>G) c.8013+13C>G (n.8013+13C>G) c.7749+13C>G (n.7749+13C>G) c.7746+13C>G (n.7746+13C>G) c.8001+13C>G (n.8001+13C>G) c.8007+13C>G (n.8007+13C>G) c.8019+13C>G (n.8019+13C>G) c.6144+13C>G (n.6144+13C>G) | gnomAD v4 |
| 6 | g.129481452C>T | CA2680317678 | LAMA2 | c.7737+13C>T (n.7737+13C>T) c.8013+13C>T (n.8013+13C>T) c.7749+13C>T (n.7749+13C>T) c.7746+13C>T (n.7746+13C>T) c.8001+13C>T (n.8001+13C>T) c.8007+13C>T (n.8007+13C>T) c.8019+13C>T (n.8019+13C>T) c.6144+13C>T (n.6144+13C>T) | gnomAD v4 |
| 6 | g.129481455G>A | CA3994646 | LAMA2 | c.7737+16G>A (n.7737+16G>A) c.8013+16G>A (n.8013+16G>A) c.7749+16G>A (n.7749+16G>A) c.7746+16G>A (n.7746+16G>A) c.8001+16G>A (n.8001+16G>A) c.8007+16G>A (n.8007+16G>A) c.8019+16G>A (n.8019+16G>A) c.6144+16G>A (n.6144+16G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129481455G= | CA1663173937 | LAMA2 | c.7737+16G= (n.7737+16G=) c.8013+16G= (n.8013+16G=) c.7749+16G= (n.7749+16G=) c.7746+16G= (n.7746+16G=) c.8001+16G= (n.8001+16G=) c.8007+16G= (n.8007+16G=) c.8019+16G= (n.8019+16G=) c.6144+16G= (n.6144+16G=) | |
| 6 | g.129481456C>A | CA570205709 | LAMA2 | c.7737+17C>A (n.7737+17C>A) c.8013+17C>A (n.8013+17C>A) c.7749+17C>A (n.7749+17C>A) c.7746+17C>A (n.7746+17C>A) c.8001+17C>A (n.8001+17C>A) c.8007+17C>A (n.8007+17C>A) c.8019+17C>A (n.8019+17C>A) c.6144+17C>A (n.6144+17C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129481456C= | CA1663173939 | LAMA2 | c.7737+17C= (n.7737+17C=) c.8013+17C= (n.8013+17C=) c.7749+17C= (n.7749+17C=) c.7746+17C= (n.7746+17C=) c.8001+17C= (n.8001+17C=) c.8007+17C= (n.8007+17C=) c.8019+17C= (n.8019+17C=) c.6144+17C= (n.6144+17C=) | |
| 6 | g.129481457T>G | CA3994647 | LAMA2 | c.7737+18T>G (n.7737+18T>G) c.8013+18T>G (n.8013+18T>G) c.7749+18T>G (n.7749+18T>G) c.7746+18T>G (n.7746+18T>G) c.8001+18T>G (n.8001+18T>G) c.8007+18T>G (n.8007+18T>G) c.8019+18T>G (n.8019+18T>G) c.6144+18T>G (n.6144+18T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129481457T= | CA1663173941 | LAMA2 | c.7737+18T= (n.7737+18T=) c.8013+18T= (n.8013+18T=) c.7749+18T= (n.7749+18T=) c.7746+18T= (n.7746+18T=) c.8001+18T= (n.8001+18T=) c.8007+18T= (n.8007+18T=) c.8019+18T= (n.8019+18T=) c.6144+18T= (n.6144+18T=) | |
| 6 | g.129481460T>A | CA2680317680 | LAMA2 | c.7737+21T>A (n.7737+21T>A) c.8013+21T>A (n.8013+21T>A) c.7749+21T>A (n.7749+21T>A) c.7746+21T>A (n.7746+21T>A) c.8001+21T>A (n.8001+21T>A) c.8007+21T>A (n.8007+21T>A) c.8019+21T>A (n.8019+21T>A) c.6144+21T>A (n.6144+21T>A) | gnomAD v4 |
| 6 | g.129481460T>C | CA451934144 | LAMA2 | c.7737+21T>C (n.7737+21T>C) c.8013+21T>C (n.8013+21T>C) c.7749+21T>C (n.7749+21T>C) c.7746+21T>C (n.7746+21T>C) c.8001+21T>C (n.8001+21T>C) c.8007+21T>C (n.8007+21T>C) c.8019+21T>C (n.8019+21T>C) c.6144+21T>C (n.6144+21T>C) | |
| 6 | g.129481460dup | CA2680317679 | LAMA2 | c.7737+21dup (n.7737+21dup) c.8013+21dup (n.8013+21dup) c.7749+21dup (n.7749+21dup) c.7746+21dup (n.7746+21dup) c.8001+21dup (n.8001+21dup) c.8007+21dup (n.8007+21dup) c.8019+21dup (n.8019+21dup) c.6144+21dup (n.6144+21dup) | gnomAD v4 |
| 6 | g.129481461A= | CA1663173945 | LAMA2 | c.7737+22A= (n.7737+22A=) c.8013+22A= (n.8013+22A=) c.7749+22A= (n.7749+22A=) c.7746+22A= (n.7746+22A=) c.8001+22A= (n.8001+22A=) c.8007+22A= (n.8007+22A=) c.8019+22A= (n.8019+22A=) c.6144+22A= (n.6144+22A=) | |
| 6 | g.129481461A>G | CA146905923 | LAMA2 | c.7737+22A>G (n.7737+22A>G) c.8013+22A>G (n.8013+22A>G) c.7749+22A>G (n.7749+22A>G) c.7746+22A>G (n.7746+22A>G) c.8001+22A>G (n.8001+22A>G) c.8007+22A>G (n.8007+22A>G) c.8019+22A>G (n.8019+22A>G) c.6144+22A>G (n.6144+22A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129481461A>T | CA1663173943 | LAMA2 | c.7737+22A>T (n.7737+22A>T) c.8013+22A>T (n.8013+22A>T) c.7749+22A>T (n.7749+22A>T) c.7746+22A>T (n.7746+22A>T) c.8001+22A>T (n.8001+22A>T) c.8007+22A>T (n.8007+22A>T) c.8019+22A>T (n.8019+22A>T) c.6144+22A>T (n.6144+22A>T) | dbSNP |
| 6 | g.129481461_129481462del | CA2578737938 | LAMA2 | c.7737+22_7737+23del (n.7737+22_7737+23del) c.8013+22_8013+23del (n.8013+22_8013+23del) c.7749+22_7749+23del (n.7749+22_7749+23del) c.7746+22_7746+23del (n.7746+22_7746+23del) c.8001+22_8001+23del (n.8001+22_8001+23del) c.8007+22_8007+23del (n.8007+22_8007+23del) c.8019+22_8019+23del (n.8019+22_8019+23del) c.6144+22_6144+23del (n.6144+22_6144+23del) | |
| 6 | g.129481462A= | CA1663173946 | LAMA2 | c.7737+23A= (n.7737+23A=) c.8013+23A= (n.8013+23A=) c.7749+23A= (n.7749+23A=) c.7746+23A= (n.7746+23A=) c.8001+23A= (n.8001+23A=) c.8007+23A= (n.8007+23A=) c.8019+23A= (n.8019+23A=) c.6144+23A= (n.6144+23A=) | |
| 6 | g.129481462A>G | CA3994648 | LAMA2 | c.7737+23A>G (n.7737+23A>G) c.8013+23A>G (n.8013+23A>G) c.7749+23A>G (n.7749+23A>G) c.7746+23A>G (n.7746+23A>G) c.8001+23A>G (n.8001+23A>G) c.8007+23A>G (n.8007+23A>G) c.8019+23A>G (n.8019+23A>G) c.6144+23A>G (n.6144+23A>G) | dbSNP ExAC gnomAD v2 |
| 6 | g.129481463T>C | CA570205710 | LAMA2 | c.7737+24T>C (n.7737+24T>C) c.8013+24T>C (n.8013+24T>C) c.7749+24T>C (n.7749+24T>C) c.7746+24T>C (n.7746+24T>C) c.8001+24T>C (n.8001+24T>C) c.8007+24T>C (n.8007+24T>C) c.8019+24T>C (n.8019+24T>C) c.6144+24T>C (n.6144+24T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129481463T= | CA1663173948 | LAMA2 | c.7737+24T= (n.7737+24T=) c.8013+24T= (n.8013+24T=) c.7749+24T= (n.7749+24T=) c.7746+24T= (n.7746+24T=) c.8001+24T= (n.8001+24T=) c.8007+24T= (n.8007+24T=) c.8019+24T= (n.8019+24T=) c.6144+24T= (n.6144+24T=) | |
| 6 | g.129481464G>A | CA2578737939 | LAMA2 | c.7737+25G>A (n.7737+25G>A) c.8013+25G>A (n.8013+25G>A) c.7749+25G>A (n.7749+25G>A) c.7746+25G>A (n.7746+25G>A) c.8001+25G>A (n.8001+25G>A) c.8007+25G>A (n.8007+25G>A) c.8019+25G>A (n.8019+25G>A) c.6144+25G>A (n.6144+25G>A) | gnomAD v4 |
| 6 | g.129481465C>A | CA2680317681 | LAMA2 | c.7737+26C>A (n.7737+26C>A) c.8013+26C>A (n.8013+26C>A) c.7749+26C>A (n.7749+26C>A) c.7746+26C>A (n.7746+26C>A) c.8001+26C>A (n.8001+26C>A) c.8007+26C>A (n.8007+26C>A) c.8019+26C>A (n.8019+26C>A) c.6144+26C>A (n.6144+26C>A) | gnomAD v4 |
| 6 | g.129481465C= | CA1663173950 | LAMA2 | c.7737+26C= (n.7737+26C=) c.8013+26C= (n.8013+26C=) c.7749+26C= (n.7749+26C=) c.7746+26C= (n.7746+26C=) c.8001+26C= (n.8001+26C=) c.8007+26C= (n.8007+26C=) c.8019+26C= (n.8019+26C=) c.6144+26C= (n.6144+26C=) | |
| 6 | g.129481465C>T | CA1663173951 | LAMA2 | c.7737+26C>T (n.7737+26C>T) c.8013+26C>T (n.8013+26C>T) c.7749+26C>T (n.7749+26C>T) c.7746+26C>T (n.7746+26C>T) c.8001+26C>T (n.8001+26C>T) c.8007+26C>T (n.8007+26C>T) c.8019+26C>T (n.8019+26C>T) c.6144+26C>T (n.6144+26C>T) | dbSNP |
| 6 | g.129481467T>C | CA570205711 | LAMA2 | c.7737+28T>C (n.7737+28T>C) c.8013+28T>C (n.8013+28T>C) c.7749+28T>C (n.7749+28T>C) c.7746+28T>C (n.7746+28T>C) c.8001+28T>C (n.8001+28T>C) c.8007+28T>C (n.8007+28T>C) c.8019+28T>C (n.8019+28T>C) c.6144+28T>C (n.6144+28T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129481467T= | CA1663173953 | LAMA2 | c.7737+28T= (n.7737+28T=) c.8013+28T= (n.8013+28T=) c.7749+28T= (n.7749+28T=) c.7746+28T= (n.7746+28T=) c.8001+28T= (n.8001+28T=) c.8007+28T= (n.8007+28T=) c.8019+28T= (n.8019+28T=) c.6144+28T= (n.6144+28T=) | |
| 6 | g.129481470del | CA2680317682 | LAMA2 | c.7737+31del (n.7737+31del) c.8013+31del (n.8013+31del) c.7749+31del (n.7749+31del) c.7746+31del (n.7746+31del) c.8001+31del (n.8001+31del) c.8007+31del (n.8007+31del) c.8019+31del (n.8019+31del) c.6144+31del (n.6144+31del) | gnomAD v4 |
| 6 | g.129481468_129481469insAGGGAAAATGCA | CA2680317683 | LAMA2 | c.7737+29_7737+30insAGGGAAAATGCA (n.7737+29_7737+30insAGGGAAAATGCA) c.8013+29_8013+30insAGGGAAAATGCA (n.8013+29_8013+30insAGGGAAAATGCA) c.7749+29_7749+30insAGGGAAAATGCA (n.7749+29_7749+30insAGGGAAAATGCA) c.7746+29_7746+30insAGGGAAAATGCA (n.7746+29_7746+30insAGGGAAAATGCA) c.8001+29_8001+30insAGGGAAAATGCA (n.8001+29_8001+30insAGGGAAAATGCA) c.8007+29_8007+30insAGGGAAAATGCA (n.8007+29_8007+30insAGGGAAAATGCA) c.8019+29_8019+30insAGGGAAAATGCA (n.8019+29_8019+30insAGGGAAAATGCA) c.6144+29_6144+30insAGGGAAAATGCA (n.6144+29_6144+30insAGGGAAAATGCA) | gnomAD v4 |
| 6 | g.129481469T>C | CA2680317684 | LAMA2 | c.7737+30T>C (n.7737+30T>C) c.8013+30T>C (n.8013+30T>C) c.7749+30T>C (n.7749+30T>C) c.7746+30T>C (n.7746+30T>C) c.8001+30T>C (n.8001+30T>C) c.8007+30T>C (n.8007+30T>C) c.8019+30T>C (n.8019+30T>C) c.6144+30T>C (n.6144+30T>C) | gnomAD v4 |
| 6 | g.129481470T>C | CA2680317685 | LAMA2 | c.7737+31T>C (n.7737+31T>C) c.8013+31T>C (n.8013+31T>C) c.7749+31T>C (n.7749+31T>C) c.7746+31T>C (n.7746+31T>C) c.8001+31T>C (n.8001+31T>C) c.8007+31T>C (n.8007+31T>C) c.8019+31T>C (n.8019+31T>C) c.6144+31T>C (n.6144+31T>C) | gnomAD v4 |
| 6 | g.129481471C>A | CA2680317687 | LAMA2 | c.7737+32C>A (n.7737+32C>A) c.8013+32C>A (n.8013+32C>A) c.7749+32C>A (n.7749+32C>A) c.7746+32C>A (n.7746+32C>A) c.8001+32C>A (n.8001+32C>A) c.8007+32C>A (n.8007+32C>A) c.8019+32C>A (n.8019+32C>A) c.6144+32C>A (n.6144+32C>A) | gnomAD v4 |
| 6 | g.129481471C>T | CA2680317686 | LAMA2 | c.7737+32C>T (n.7737+32C>T) c.8013+32C>T (n.8013+32C>T) c.7749+32C>T (n.7749+32C>T) c.7746+32C>T (n.7746+32C>T) c.8001+32C>T (n.8001+32C>T) c.8007+32C>T (n.8007+32C>T) c.8019+32C>T (n.8019+32C>T) c.6144+32C>T (n.6144+32C>T) | gnomAD v4 |
| 6 | g.129481472C>A | CA2680317688 | LAMA2 | c.7737+33C>A (n.7737+33C>A) c.8013+33C>A (n.8013+33C>A) c.7749+33C>A (n.7749+33C>A) c.7746+33C>A (n.7746+33C>A) c.8001+33C>A (n.8001+33C>A) c.8007+33C>A (n.8007+33C>A) c.8019+33C>A (n.8019+33C>A) c.6144+33C>A (n.6144+33C>A) | gnomAD v4 |
| 6 | g.129481473C>A | CA2578737941 | LAMA2 | c.7737+34C>A (n.7737+34C>A) c.8013+34C>A (n.8013+34C>A) c.7749+34C>A (n.7749+34C>A) c.7746+34C>A (n.7746+34C>A) c.8001+34C>A (n.8001+34C>A) c.8007+34C>A (n.8007+34C>A) c.8019+34C>A (n.8019+34C>A) c.6144+34C>A (n.6144+34C>A) | gnomAD v4 |
| 6 | g.129481474T>A | CA2680317690 | LAMA2 | c.7737+35T>A (n.7737+35T>A) c.8013+35T>A (n.8013+35T>A) c.7749+35T>A (n.7749+35T>A) c.7746+35T>A (n.7746+35T>A) c.8001+35T>A (n.8001+35T>A) c.8007+35T>A (n.8007+35T>A) c.8019+35T>A (n.8019+35T>A) c.6144+35T>A (n.6144+35T>A) | gnomAD v4 |
| 6 | g.129481474T>C | CA2680317689 | LAMA2 | c.7737+35T>C (n.7737+35T>C) c.8013+35T>C (n.8013+35T>C) c.7749+35T>C (n.7749+35T>C) c.7746+35T>C (n.7746+35T>C) c.8001+35T>C (n.8001+35T>C) c.8007+35T>C (n.8007+35T>C) c.8019+35T>C (n.8019+35T>C) c.6144+35T>C (n.6144+35T>C) | gnomAD v4 |
| 6 | g.129481475A>G | CA2680317691 | LAMA2 | c.7737+36A>G (n.7737+36A>G) c.8013+36A>G (n.8013+36A>G) c.7749+36A>G (n.7749+36A>G) c.7746+36A>G (n.7746+36A>G) c.8001+36A>G (n.8001+36A>G) c.8007+36A>G (n.8007+36A>G) c.8019+36A>G (n.8019+36A>G) c.6144+36A>G (n.6144+36A>G) | gnomAD v4 |
| 6 | g.129481476A= | CA1663173957 | LAMA2 | c.7737+37A= (n.7737+37A=) c.8013+37A= (n.8013+37A=) c.7749+37A= (n.7749+37A=) c.7746+37A= (n.7746+37A=) c.8001+37A= (n.8001+37A=) c.8007+37A= (n.8007+37A=) c.8019+37A= (n.8019+37A=) c.6144+37A= (n.6144+37A=) | |
| 6 | g.129481476A>G | CA3994649 | LAMA2 | c.7737+37A>G (n.7737+37A>G) c.8013+37A>G (n.8013+37A>G) c.7749+37A>G (n.7749+37A>G) c.7746+37A>G (n.7746+37A>G) c.8001+37A>G (n.8001+37A>G) c.8007+37A>G (n.8007+37A>G) c.8019+37A>G (n.8019+37A>G) c.6144+37A>G (n.6144+37A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129481477T>C | CA1663173960 | LAMA2 | c.7737+38T>C (n.7737+38T>C) c.8013+38T>C (n.8013+38T>C) c.7749+38T>C (n.7749+38T>C) c.7746+38T>C (n.7746+38T>C) c.8001+38T>C (n.8001+38T>C) c.8007+38T>C (n.8007+38T>C) c.8019+38T>C (n.8019+38T>C) c.6144+38T>C (n.6144+38T>C) | dbSNP gnomAD v4 |
| 6 | g.129481477T= | CA1663173959 | LAMA2 | c.7737+38T= (n.7737+38T=) c.8013+38T= (n.8013+38T=) c.7749+38T= (n.7749+38T=) c.7746+38T= (n.7746+38T=) c.8001+38T= (n.8001+38T=) c.8007+38T= (n.8007+38T=) c.8019+38T= (n.8019+38T=) c.6144+38T= (n.6144+38T=) | |
| 6 | g.129481478G>A | CA3994650 | LAMA2 | c.7737+39G>A (n.7737+39G>A) c.8013+39G>A (n.8013+39G>A) c.7749+39G>A (n.7749+39G>A) c.7746+39G>A (n.7746+39G>A) c.8001+39G>A (n.8001+39G>A) c.8007+39G>A (n.8007+39G>A) c.8019+39G>A (n.8019+39G>A) c.6144+39G>A (n.6144+39G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129481478G>C | CA3994651 | LAMA2 | c.7737+39G>C (n.7737+39G>C) c.8013+39G>C (n.8013+39G>C) c.7749+39G>C (n.7749+39G>C) c.7746+39G>C (n.7746+39G>C) c.8001+39G>C (n.8001+39G>C) c.8007+39G>C (n.8007+39G>C) c.8019+39G>C (n.8019+39G>C) c.6144+39G>C (n.6144+39G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129481478G= | CA1663173964 | LAMA2 | c.7737+39G= (n.7737+39G=) c.8013+39G= (n.8013+39G=) c.7749+39G= (n.7749+39G=) c.7746+39G= (n.7746+39G=) c.8001+39G= (n.8001+39G=) c.8007+39G= (n.8007+39G=) c.8019+39G= (n.8019+39G=) c.6144+39G= (n.6144+39G=) | |
| 6 | g.129481478G>T | CA570205712 | LAMA2 | c.7737+39G>T (n.7737+39G>T) c.8013+39G>T (n.8013+39G>T) c.7749+39G>T (n.7749+39G>T) c.7746+39G>T (n.7746+39G>T) c.8001+39G>T (n.8001+39G>T) c.8007+39G>T (n.8007+39G>T) c.8019+39G>T (n.8019+39G>T) c.6144+39G>T (n.6144+39G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129481479C>A | CA2680317692 | LAMA2 | c.7737+40C>A (n.7737+40C>A) c.8013+40C>A (n.8013+40C>A) c.7749+40C>A (n.7749+40C>A) c.7746+40C>A (n.7746+40C>A) c.8001+40C>A (n.8001+40C>A) c.8007+40C>A (n.8007+40C>A) c.8019+40C>A (n.8019+40C>A) c.6144+40C>A (n.6144+40C>A) | gnomAD v4 |
| 6 | g.129481479C= | CA1663173966 | LAMA2 | c.7737+40C= (n.7737+40C=) c.8013+40C= (n.8013+40C=) c.7749+40C= (n.7749+40C=) c.7746+40C= (n.7746+40C=) c.8001+40C= (n.8001+40C=) c.8007+40C= (n.8007+40C=) c.8019+40C= (n.8019+40C=) c.6144+40C= (n.6144+40C=) | |
| 6 | g.129481479C>T | CA1663173967 | LAMA2 | c.7737+40C>T (n.7737+40C>T) c.8013+40C>T (n.8013+40C>T) c.7749+40C>T (n.7749+40C>T) c.7746+40C>T (n.7746+40C>T) c.8001+40C>T (n.8001+40C>T) c.8007+40C>T (n.8007+40C>T) c.8019+40C>T (n.8019+40C>T) c.6144+40C>T (n.6144+40C>T) | dbSNP |
| 6 | g.129481480T>G | CA2680317693 | LAMA2 | c.7737+41T>G (n.7737+41T>G) c.8013+41T>G (n.8013+41T>G) c.7749+41T>G (n.7749+41T>G) c.7746+41T>G (n.7746+41T>G) c.8001+41T>G (n.8001+41T>G) c.8007+41T>G (n.8007+41T>G) c.8019+41T>G (n.8019+41T>G) c.6144+41T>G (n.6144+41T>G) | gnomAD v4 |
| 6 | g.129481481del | CA2578737943 | LAMA2 | c.7737+42del (n.7737+42del) c.8013+42del (n.8013+42del) c.7749+42del (n.7749+42del) c.7746+42del (n.7746+42del) c.8001+42del (n.8001+42del) c.8007+42del (n.8007+42del) c.8019+42del (n.8019+42del) c.6144+42del (n.6144+42del) | gnomAD v4 |