| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129460287C>A | CA451924955 | LAMA2 | c.6955C>A (p.Arg2319=) c.7219C>A (p.Arg2407=) n.586C>A n.294C>A c.6952C>A (p.Arg2318=) c.7213C>A (p.Arg2405=) c.7225C>A (p.Arg2409=) c.5350C>A (p.Arg1784=) | |
| 6 | g.129460287C= | CA1663188427 | LAMA2 | c.6955C= (p.Arg2319=) c.7219C= (p.Arg2407=) n.586C= n.294C= c.6952C= (p.Arg2318=) c.7213C= (p.Arg2405=) c.7225C= (p.Arg2409=) c.5350C= (p.Arg1784=) | |
| 6 | g.129460287C>G | CA365619339 | LAMA2 | c.6955C>G (p.Arg2319Gly) c.7219C>G (p.Arg2407Gly) n.586C>G n.294C>G c.6952C>G (p.Arg2318Gly) c.7213C>G (p.Arg2405Gly) c.7225C>G (p.Arg2409Gly) c.5350C>G (p.Arg1784Gly) | |
| 6 | g.129460287C>T | CA220792 | LAMA2 | c.6955C>T (p.Arg2319Ter) c.7219C>T (p.Arg2407Ter) n.586C>T n.294C>T c.6952C>T (p.Arg2318Ter) c.7213C>T (p.Arg2405Ter) c.7225C>T (p.Arg2409Ter) c.5350C>T (p.Arg1784Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.129460288G>A | CA3994401 | LAMA2 | c.6956G>A (p.Arg2319Gln) c.7220G>A (p.Arg2407Gln) n.587G>A n.295G>A c.6953G>A (p.Arg2318Gln) c.7214G>A (p.Arg2405Gln) c.7226G>A (p.Arg2409Gln) c.5351G>A (p.Arg1784Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129460288G>C | CA365619342 | LAMA2 | c.6956G>C (p.Arg2319Pro) c.7220G>C (p.Arg2407Pro) n.587G>C n.295G>C c.6953G>C (p.Arg2318Pro) c.7214G>C (p.Arg2405Pro) c.7226G>C (p.Arg2409Pro) c.5351G>C (p.Arg1784Pro) | ClinVar |
| 6 | g.129460288G= | CA1663188433 | LAMA2 | c.6956G= (p.Arg2319=) c.7220G= (p.Arg2407=) n.587G= n.295G= c.6953G= (p.Arg2318=) c.7214G= (p.Arg2405=) c.7226G= (p.Arg2409=) c.5351G= (p.Arg1784=) | |
| 6 | g.129460288G>T | CA3994402 | LAMA2 | c.6956G>T (p.Arg2319Leu) c.7220G>T (p.Arg2407Leu) n.587G>T n.295G>T c.6953G>T (p.Arg2318Leu) c.7214G>T (p.Arg2405Leu) c.7226G>T (p.Arg2409Leu) c.5351G>T (p.Arg1784Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129460289A>C | CA451924957 | LAMA2 | c.6957A>C (p.Arg2319=) c.7221A>C (p.Arg2407=) n.588A>C n.296A>C c.6954A>C (p.Arg2318=) c.7215A>C (p.Arg2405=) c.7227A>C (p.Arg2409=) c.5352A>C (p.Arg1784=) | |
| 6 | g.129460289A>G | CA451924958 | LAMA2 | c.6957A>G (p.Arg2319=) c.7221A>G (p.Arg2407=) n.588A>G n.296A>G c.6954A>G (p.Arg2318=) c.7215A>G (p.Arg2405=) c.7227A>G (p.Arg2409=) c.5352A>G (p.Arg1784=) | |
| 6 | g.129460289A>T | CA451924959 | LAMA2 | c.6957A>T (p.Arg2319=) c.7221A>T (p.Arg2407=) n.588A>T n.296A>T c.6954A>T (p.Arg2318=) c.7215A>T (p.Arg2405=) c.7227A>T (p.Arg2409=) c.5352A>T (p.Arg1784=) | ClinVar dbSNP |
| 6 | g.129460290G>A | CA365619346 | LAMA2 | c.6958G>A (p.Glu2320Lys) c.7222G>A (p.Glu2408Lys) n.589G>A n.297G>A c.6955G>A (p.Glu2319Lys) c.7216G>A (p.Glu2406Lys) c.7228G>A (p.Glu2410Lys) c.5353G>A (p.Glu1785Lys) | |
| 6 | g.129460290G>C | CA365619347 | LAMA2 | c.6958G>C (p.Glu2320Gln) c.7222G>C (p.Glu2408Gln) n.589G>C n.297G>C c.6955G>C (p.Glu2319Gln) c.7216G>C (p.Glu2406Gln) c.7228G>C (p.Glu2410Gln) c.5353G>C (p.Glu1785Gln) | |
| 6 | g.129460290G>T | CA365619344 | LAMA2 | c.6958G>T (p.Glu2320Ter) c.7222G>T (p.Glu2408Ter) n.589G>T n.297G>T c.6955G>T (p.Glu2319Ter) c.7216G>T (p.Glu2406Ter) c.7228G>T (p.Glu2410Ter) c.5353G>T (p.Glu1785Ter) | |
| 6 | g.129460291A>C | CA365619353 | LAMA2 | c.6959A>C (p.Glu2320Ala) c.7223A>C (p.Glu2408Ala) n.590A>C n.298A>C c.6956A>C (p.Glu2319Ala) c.7217A>C (p.Glu2406Ala) c.7229A>C (p.Glu2410Ala) c.5354A>C (p.Glu1785Ala) | |
| 6 | g.129460291A>G | CA365619349 | LAMA2 | c.6959A>G (p.Glu2320Gly) c.7223A>G (p.Glu2408Gly) n.590A>G n.298A>G c.6956A>G (p.Glu2319Gly) c.7217A>G (p.Glu2406Gly) c.7229A>G (p.Glu2410Gly) c.5354A>G (p.Glu1785Gly) | |
| 6 | g.129460291A>T | CA365619350 | LAMA2 | c.6959A>T (p.Glu2320Val) c.7223A>T (p.Glu2408Val) n.590A>T n.298A>T c.6956A>T (p.Glu2319Val) c.7217A>T (p.Glu2406Val) c.7229A>T (p.Glu2410Val) c.5354A>T (p.Glu1785Val) | |
| 6 | g.129460292A= | CA1663188439 | LAMA2 | c.6960A= (p.Glu2320=) c.7224A= (p.Glu2408=) n.591A= n.299A= c.6957A= (p.Glu2319=) c.7218A= (p.Glu2406=) c.7230A= (p.Glu2410=) c.5355A= (p.Glu1785=) | |
| 6 | g.129460292A>C | CA365619354 | LAMA2 | c.6960A>C (p.Glu2320Asp) c.7224A>C (p.Glu2408Asp) n.591A>C n.299A>C c.6957A>C (p.Glu2319Asp) c.7218A>C (p.Glu2406Asp) c.7230A>C (p.Glu2410Asp) c.5355A>C (p.Glu1785Asp) | |
| 6 | g.129460292A>G | CA451924961 | LAMA2 | c.6960A>G (p.Glu2320=) c.7224A>G (p.Glu2408=) n.591A>G n.299A>G c.6957A>G (p.Glu2319=) c.7218A>G (p.Glu2406=) c.7230A>G (p.Glu2410=) c.5355A>G (p.Glu1785=) | ClinVar |
| 6 | g.129460292A>T | CA146888608 | LAMA2 | c.6960A>T (p.Glu2320Asp) c.7224A>T (p.Glu2408Asp) n.591A>T n.299A>T c.6957A>T (p.Glu2319Asp) c.7218A>T (p.Glu2406Asp) c.7230A>T (p.Glu2410Asp) c.5355A>T (p.Glu1785Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129460293A>C | CA365619356 | LAMA2 | c.6961A>C (p.Lys2321Gln) c.7225A>C (p.Lys2409Gln) n.592A>C n.300A>C c.6958A>C (p.Lys2320Gln) c.7219A>C (p.Lys2407Gln) c.7231A>C (p.Lys2411Gln) c.5356A>C (p.Lys1786Gln) | |
| 6 | g.129460293A>G | CA365619358 | LAMA2 | c.6961A>G (p.Lys2321Glu) c.7225A>G (p.Lys2409Glu) n.592A>G n.300A>G c.6958A>G (p.Lys2320Glu) c.7219A>G (p.Lys2407Glu) c.7231A>G (p.Lys2411Glu) c.5356A>G (p.Lys1786Glu) | |
| 6 | g.129460293A>T | CA365619360 | LAMA2 | c.6961A>T (p.Lys2321Ter) c.7225A>T (p.Lys2409Ter) n.592A>T n.300A>T c.6958A>T (p.Lys2320Ter) c.7219A>T (p.Lys2407Ter) c.7231A>T (p.Lys2411Ter) c.5356A>T (p.Lys1786Ter) | |
| 6 | g.129460294A>C | CA365619365 | LAMA2 | c.6962A>C (p.Lys2321Thr) c.7226A>C (p.Lys2409Thr) n.593A>C n.301A>C c.6959A>C (p.Lys2320Thr) c.7220A>C (p.Lys2407Thr) c.7232A>C (p.Lys2411Thr) c.5357A>C (p.Lys1786Thr) | |
| 6 | g.129460294A>G | CA365619362 | LAMA2 | c.6962A>G (p.Lys2321Arg) c.7226A>G (p.Lys2409Arg) n.593A>G n.301A>G c.6959A>G (p.Lys2320Arg) c.7220A>G (p.Lys2407Arg) c.7232A>G (p.Lys2411Arg) c.5357A>G (p.Lys1786Arg) | |
| 6 | g.129460294A>T | CA365619364 | LAMA2 | c.6962A>T (p.Lys2321Ile) c.7226A>T (p.Lys2409Ile) n.593A>T n.301A>T c.6959A>T (p.Lys2320Ile) c.7220A>T (p.Lys2407Ile) c.7232A>T (p.Lys2411Ile) c.5357A>T (p.Lys1786Ile) | |
| 6 | g.129460297_129460299del | CA2680307060 | LAMA2 | c.6965_6967del (p.Glu2322del) c.7229_7231del (p.Glu2410del) n.596_598del n.304_306del c.6962_6964del (p.Glu2321del) c.7223_7225del (p.Glu2408del) c.7235_7237del (p.Glu2412del) c.5360_5362del (p.Glu1787del) | gnomAD v4 |
| 6 | g.129460295A>C | CA365619366 | LAMA2 | c.6963A>C (p.Lys2321Asn) c.7227A>C (p.Lys2409Asn) n.594A>C n.302A>C c.6960A>C (p.Lys2320Asn) c.7221A>C (p.Lys2407Asn) c.7233A>C (p.Lys2411Asn) c.5358A>C (p.Lys1786Asn) | |
| 6 | g.129460295A>G | CA451924963 | LAMA2 | c.6963A>G (p.Lys2321=) c.7227A>G (p.Lys2409=) n.594A>G n.302A>G c.6960A>G (p.Lys2320=) c.7221A>G (p.Lys2407=) c.7233A>G (p.Lys2411=) c.5358A>G (p.Lys1786=) | COSMIC |
| 6 | g.129460295A>T | CA365619368 | LAMA2 | c.6963A>T (p.Lys2321Asn) c.7227A>T (p.Lys2409Asn) n.594A>T n.302A>T c.6960A>T (p.Lys2320Asn) c.7221A>T (p.Lys2407Asn) c.7233A>T (p.Lys2411Asn) c.5358A>T (p.Lys1786Asn) | |
| 6 | g.129460296del | CA2499218083 | LAMA2 | c.6964del (p.Glu2322LysfsTer?) c.7228del (p.Glu2410LysfsTer?) n.595del n.303del c.6961del (p.Glu2321LysfsTer?) c.7222del (p.Glu2408LysfsTer?) c.7234del (p.Glu2412LysfsTer?) c.5359del (p.Glu1787LysfsTer?) | ClinVar dbSNP |
| 6 | g.129460296G>A | CA365619370 | LAMA2 | c.6964G>A (p.Glu2322Lys) c.7228G>A (p.Glu2410Lys) n.595G>A n.303G>A c.6961G>A (p.Glu2321Lys) c.7222G>A (p.Glu2408Lys) c.7234G>A (p.Glu2412Lys) c.5359G>A (p.Glu1787Lys) | gnomAD v4 |
| 6 | g.129460296G>C | CA365619371 | LAMA2 | c.6964G>C (p.Glu2322Gln) c.7228G>C (p.Glu2410Gln) n.595G>C n.303G>C c.6961G>C (p.Glu2321Gln) c.7222G>C (p.Glu2408Gln) c.7234G>C (p.Glu2412Gln) c.5359G>C (p.Glu1787Gln) | |
| 6 | g.129460296G>T | CA365619372 | LAMA2 | c.6964G>T (p.Glu2322Ter) c.7228G>T (p.Glu2410Ter) n.595G>T n.303G>T c.6961G>T (p.Glu2321Ter) c.7222G>T (p.Glu2408Ter) c.7234G>T (p.Glu2412Ter) c.5359G>T (p.Glu1787Ter) | |
| 6 | g.129460297A>C | CA365619373 | LAMA2 | c.6965A>C (p.Glu2322Ala) c.7229A>C (p.Glu2410Ala) n.596A>C n.304A>C c.6962A>C (p.Glu2321Ala) c.7223A>C (p.Glu2408Ala) c.7235A>C (p.Glu2412Ala) c.5360A>C (p.Glu1787Ala) | gnomAD v4 |
| 6 | g.129460297A>G | CA365619377 | LAMA2 | c.6965A>G (p.Glu2322Gly) c.7229A>G (p.Glu2410Gly) n.596A>G n.304A>G c.6962A>G (p.Glu2321Gly) c.7223A>G (p.Glu2408Gly) c.7235A>G (p.Glu2412Gly) c.5360A>G (p.Glu1787Gly) | |
| 6 | g.129460297A>T | CA365619375 | LAMA2 | c.6965A>T (p.Glu2322Val) c.7229A>T (p.Glu2410Val) n.596A>T n.304A>T c.6962A>T (p.Glu2321Val) c.7223A>T (p.Glu2408Val) c.7235A>T (p.Glu2412Val) c.5360A>T (p.Glu1787Val) | |
| 6 | g.129460298A>C | CA365619378 | LAMA2 | c.6966A>C (p.Glu2322Asp) c.7230A>C (p.Glu2410Asp) n.597A>C n.305A>C c.6963A>C (p.Glu2321Asp) c.7224A>C (p.Glu2408Asp) c.7236A>C (p.Glu2412Asp) c.5361A>C (p.Glu1787Asp) | |
| 6 | g.129460298A>G | CA451924965 | LAMA2 | c.6966A>G (p.Glu2322=) c.7230A>G (p.Glu2410=) n.597A>G n.305A>G c.6963A>G (p.Glu2321=) c.7224A>G (p.Glu2408=) c.7236A>G (p.Glu2412=) c.5361A>G (p.Glu1787=) | |
| 6 | g.129460298A>T | CA365619379 | LAMA2 | c.6966A>T (p.Glu2322Asp) c.7230A>T (p.Glu2410Asp) n.597A>T n.305A>T c.6963A>T (p.Glu2321Asp) c.7224A>T (p.Glu2408Asp) c.7236A>T (p.Glu2412Asp) c.5361A>T (p.Glu1787Asp) | |
| 6 | g.129460299G>A | CA365619380 | LAMA2 | c.6967G>A (p.Gly2323Ser) c.7231G>A (p.Gly2411Ser) n.598G>A n.306G>A c.6964G>A (p.Gly2322Ser) c.7225G>A (p.Gly2409Ser) c.7237G>A (p.Gly2413Ser) c.5362G>A (p.Gly1788Ser) | gnomAD v4 |
| 6 | g.129460299G>C | CA365619382 | LAMA2 | c.6967G>C (p.Gly2323Arg) c.7231G>C (p.Gly2411Arg) n.598G>C n.306G>C c.6964G>C (p.Gly2322Arg) c.7225G>C (p.Gly2409Arg) c.7237G>C (p.Gly2413Arg) c.5362G>C (p.Gly1788Arg) | gnomAD v4 |
| 6 | g.129460299G>T | CA365619384 | LAMA2 | c.6967G>T (p.Gly2323Cys) c.7231G>T (p.Gly2411Cys) n.598G>T n.306G>T c.6964G>T (p.Gly2322Cys) c.7225G>T (p.Gly2409Cys) c.7237G>T (p.Gly2413Cys) c.5362G>T (p.Gly1788Cys) | |
| 6 | g.129460300G>A | CA365619386 | LAMA2 | c.6968G>A (p.Gly2323Asp) c.7232G>A (p.Gly2411Asp) n.599G>A n.307G>A c.6965G>A (p.Gly2322Asp) c.7226G>A (p.Gly2409Asp) c.7238G>A (p.Gly2413Asp) c.5363G>A (p.Gly1788Asp) | gnomAD v4 |
| 6 | g.129460300G>C | CA365619387 | LAMA2 | c.6968G>C (p.Gly2323Ala) c.7232G>C (p.Gly2411Ala) n.599G>C n.307G>C c.6965G>C (p.Gly2322Ala) c.7226G>C (p.Gly2409Ala) c.7238G>C (p.Gly2413Ala) c.5363G>C (p.Gly1788Ala) | |
| 6 | g.129460300G>T | CA365619389 | LAMA2 | c.6968G>T (p.Gly2323Val) c.7232G>T (p.Gly2411Val) n.599G>T n.307G>T c.6965G>T (p.Gly2322Val) c.7226G>T (p.Gly2409Val) c.7238G>T (p.Gly2413Val) c.5363G>T (p.Gly1788Val) | |
| 6 | g.129460301T>A | CA451924971 | LAMA2 | c.6969T>A (p.Gly2323=) c.7233T>A (p.Gly2411=) n.600T>A n.308T>A c.6966T>A (p.Gly2322=) c.7227T>A (p.Gly2409=) c.7239T>A (p.Gly2413=) c.5364T>A (p.Gly1788=) | |
| 6 | g.129460301T>C | CA451924972 | LAMA2 | c.6969T>C (p.Gly2323=) c.7233T>C (p.Gly2411=) n.600T>C n.308T>C c.6966T>C (p.Gly2322=) c.7227T>C (p.Gly2409=) c.7239T>C (p.Gly2413=) c.5364T>C (p.Gly1788=) | dbSNP |
| 6 | g.129460301T>G | CA451924973 | LAMA2 | c.6969T>G (p.Gly2323=) c.7233T>G (p.Gly2411=) n.600T>G n.308T>G c.6966T>G (p.Gly2322=) c.7227T>G (p.Gly2409=) c.7239T>G (p.Gly2413=) c.5364T>G (p.Gly1788=) | |
| 6 | g.129460301T= | CA1663188445 | LAMA2 | c.6969T= (p.Gly2323=) c.7233T= (p.Gly2411=) n.600T= n.308T= c.6966T= (p.Gly2322=) c.7227T= (p.Gly2409=) c.7239T= (p.Gly2413=) c.5364T= (p.Gly1788=) | |
| 6 | g.129460302G>A | CA365619391 | LAMA2 | c.6970G>A (p.Asp2324Asn) c.7234G>A (p.Asp2412Asn) n.601G>A n.309G>A c.6967G>A (p.Asp2323Asn) c.7228G>A (p.Asp2410Asn) c.7240G>A (p.Asp2414Asn) c.5365G>A (p.Asp1789Asn) | |
| 6 | g.129460302G>C | CA365619392 | LAMA2 | c.6970G>C (p.Asp2324His) c.7234G>C (p.Asp2412His) n.601G>C n.309G>C c.6967G>C (p.Asp2323His) c.7228G>C (p.Asp2410His) c.7240G>C (p.Asp2414His) c.5365G>C (p.Asp1789His) | |
| 6 | g.129460302G>T | CA365619393 | LAMA2 | c.6970G>T (p.Asp2324Tyr) c.7234G>T (p.Asp2412Tyr) n.601G>T n.309G>T c.6967G>T (p.Asp2323Tyr) c.7228G>T (p.Asp2410Tyr) c.7240G>T (p.Asp2414Tyr) c.5365G>T (p.Asp1789Tyr) | gnomAD v4 |
| 6 | g.129460303A>C | CA365619395 | LAMA2 | c.6971A>C (p.Asp2324Ala) c.7235A>C (p.Asp2412Ala) n.602A>C n.310A>C c.6968A>C (p.Asp2323Ala) c.7229A>C (p.Asp2410Ala) c.7241A>C (p.Asp2414Ala) c.5366A>C (p.Asp1789Ala) | |
| 6 | g.129460303A>G | CA365619397 | LAMA2 | c.6971A>G (p.Asp2324Gly) c.7235A>G (p.Asp2412Gly) n.602A>G n.310A>G c.6968A>G (p.Asp2323Gly) c.7229A>G (p.Asp2410Gly) c.7241A>G (p.Asp2414Gly) c.5366A>G (p.Asp1789Gly) | |
| 6 | g.129460303A>T | CA365619396 | LAMA2 | c.6971A>T (p.Asp2324Val) c.7235A>T (p.Asp2412Val) n.602A>T n.310A>T c.6968A>T (p.Asp2323Val) c.7229A>T (p.Asp2410Val) c.7241A>T (p.Asp2414Val) c.5366A>T (p.Asp1789Val) | |
| 6 | g.129460304C>A | CA365619399 | LAMA2 | c.6972C>A (p.Asp2324Glu) c.7236C>A (p.Asp2412Glu) n.603C>A n.311C>A c.6969C>A (p.Asp2323Glu) c.7230C>A (p.Asp2410Glu) c.7242C>A (p.Asp2414Glu) c.5367C>A (p.Asp1789Glu) | |
| 6 | g.129460304C>G | CA365619401 | LAMA2 | c.6972C>G (p.Asp2324Glu) c.7236C>G (p.Asp2412Glu) n.603C>G n.311C>G c.6969C>G (p.Asp2323Glu) c.7230C>G (p.Asp2410Glu) c.7242C>G (p.Asp2414Glu) c.5367C>G (p.Asp1789Glu) | |
| 6 | g.129460304C>T | CA451924975 | LAMA2 | c.6972C>T (p.Asp2324=) c.7236C>T (p.Asp2412=) n.603C>T n.311C>T c.6969C>T (p.Asp2323=) c.7230C>T (p.Asp2410=) c.7242C>T (p.Asp2414=) c.5367C>T (p.Asp1789=) | ClinVar |
| 6 | g.129460305T>A | CA365619402 | LAMA2 | c.6973T>A (p.Cys2325Ser) c.7237T>A (p.Cys2413Ser) n.604T>A n.312T>A c.6970T>A (p.Cys2324Ser) c.7231T>A (p.Cys2411Ser) c.7243T>A (p.Cys2415Ser) c.5368T>A (p.Cys1790Ser) | |
| 6 | g.129460305T>C | CA365619404 | LAMA2 | c.6973T>C (p.Cys2325Arg) c.7237T>C (p.Cys2413Arg) n.604T>C n.312T>C c.6970T>C (p.Cys2324Arg) c.7231T>C (p.Cys2411Arg) c.7243T>C (p.Cys2415Arg) c.5368T>C (p.Cys1790Arg) | |
| 6 | g.129460305T>G | CA365619406 | LAMA2 | c.6973T>G (p.Cys2325Gly) c.7237T>G (p.Cys2413Gly) n.604T>G n.312T>G c.6970T>G (p.Cys2324Gly) c.7231T>G (p.Cys2411Gly) c.7243T>G (p.Cys2415Gly) c.5368T>G (p.Cys1790Gly) | |
| 6 | g.129460306G>A | CA365619407 | LAMA2 | c.6974G>A (p.Cys2325Tyr) c.7238G>A (p.Cys2413Tyr) n.605G>A n.313G>A c.6971G>A (p.Cys2324Tyr) c.7232G>A (p.Cys2411Tyr) c.7244G>A (p.Cys2415Tyr) c.5369G>A (p.Cys1790Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129460306G>C | CA365619409 | LAMA2 | c.6974G>C (p.Cys2325Ser) c.7238G>C (p.Cys2413Ser) n.605G>C n.313G>C c.6971G>C (p.Cys2324Ser) c.7232G>C (p.Cys2411Ser) c.7244G>C (p.Cys2415Ser) c.5369G>C (p.Cys1790Ser) | |
| 6 | g.129460306G= | CA1663188451 | LAMA2 | c.6974G= (p.Cys2325=) c.7238G= (p.Cys2413=) n.605G= n.313G= c.6971G= (p.Cys2324=) c.7232G= (p.Cys2411=) c.7244G= (p.Cys2415=) c.5369G= (p.Cys1790=) | |
| 6 | g.129460306G>T | CA365619410 | LAMA2 | c.6974G>T (p.Cys2325Phe) c.7238G>T (p.Cys2413Phe) n.605G>T n.313G>T c.6971G>T (p.Cys2324Phe) c.7232G>T (p.Cys2411Phe) c.7244G>T (p.Cys2415Phe) c.5369G>T (p.Cys1790Phe) | |
| 6 | g.129460307C>A | CA365619412 | LAMA2 | c.6975C>A (p.Cys2325Ter) c.7239C>A (p.Cys2413Ter) n.606C>A n.314C>A c.6972C>A (p.Cys2324Ter) c.7233C>A (p.Cys2411Ter) c.7245C>A (p.Cys2415Ter) c.5370C>A (p.Cys1790Ter) | |
| 6 | g.129460307C>G | CA365619414 | LAMA2 | c.6975C>G (p.Cys2325Trp) c.7239C>G (p.Cys2413Trp) n.606C>G n.314C>G c.6972C>G (p.Cys2324Trp) c.7233C>G (p.Cys2411Trp) c.7245C>G (p.Cys2415Trp) c.5370C>G (p.Cys1790Trp) | |
| 6 | g.129460307C>T | CA451924977 | LAMA2 | c.6975C>T (p.Cys2325=) c.7239C>T (p.Cys2413=) n.606C>T n.314C>T c.6972C>T (p.Cys2324=) c.7233C>T (p.Cys2411=) c.7245C>T (p.Cys2415=) c.5370C>T (p.Cys1790=) | |
| 6 | g.129460308A>C | CA365619416 | LAMA2 | c.6976A>C (p.Lys2326Gln) c.7240A>C (p.Lys2414Gln) n.607A>C n.315A>C c.6973A>C (p.Lys2325Gln) c.7234A>C (p.Lys2412Gln) c.7246A>C (p.Lys2416Gln) c.5371A>C (p.Lys1791Gln) | |
| 6 | g.129460308A>G | CA365619417 | LAMA2 | c.6976A>G (p.Lys2326Glu) c.7240A>G (p.Lys2414Glu) n.607A>G n.315A>G c.6973A>G (p.Lys2325Glu) c.7234A>G (p.Lys2412Glu) c.7246A>G (p.Lys2416Glu) c.5371A>G (p.Lys1791Glu) | |
| 6 | g.129460308A>T | CA365619419 | LAMA2 | c.6976A>T (p.Lys2326Ter) c.7240A>T (p.Lys2414Ter) n.607A>T n.315A>T c.6973A>T (p.Lys2325Ter) c.7234A>T (p.Lys2412Ter) c.7246A>T (p.Lys2416Ter) c.5371A>T (p.Lys1791Ter) | |
| 6 | g.129460309A= | CA1663188455 | LAMA2 | c.6977A= (p.Lys2326=) c.7241A= (p.Lys2414=) n.608A= n.316A= c.6974A= (p.Lys2325=) c.7235A= (p.Lys2412=) c.7247A= (p.Lys2416=) c.5372A= (p.Lys1791=) | |
| 6 | g.129460309A>C | CA365619421 | LAMA2 | c.6977A>C (p.Lys2326Thr) c.7241A>C (p.Lys2414Thr) n.608A>C n.316A>C c.6974A>C (p.Lys2325Thr) c.7235A>C (p.Lys2412Thr) c.7247A>C (p.Lys2416Thr) c.5372A>C (p.Lys1791Thr) | dbSNP |
| 6 | g.129460309A>G | CA365619424 | LAMA2 | c.6977A>G (p.Lys2326Arg) c.7241A>G (p.Lys2414Arg) n.608A>G n.316A>G c.6974A>G (p.Lys2325Arg) c.7235A>G (p.Lys2412Arg) c.7247A>G (p.Lys2416Arg) c.5372A>G (p.Lys1791Arg) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129460309A>T | CA365619422 | LAMA2 | c.6977A>T (p.Lys2326Ile) c.7241A>T (p.Lys2414Ile) n.608A>T n.316A>T c.6974A>T (p.Lys2325Ile) c.7235A>T (p.Lys2412Ile) c.7247A>T (p.Lys2416Ile) c.5372A>T (p.Lys1791Ile) | |
| 6 | g.129460310A>C | CA365619425 | LAMA2 | c.6978A>C (p.Lys2326Asn) c.7242A>C (p.Lys2414Asn) n.609A>C n.317A>C c.6975A>C (p.Lys2325Asn) c.7236A>C (p.Lys2412Asn) c.7248A>C (p.Lys2416Asn) c.5373A>C (p.Lys1791Asn) | |
| 6 | g.129460310A>G | CA451924981 | LAMA2 | c.6978A>G (p.Lys2326=) c.7242A>G (p.Lys2414=) n.609A>G n.317A>G c.6975A>G (p.Lys2325=) c.7236A>G (p.Lys2412=) c.7248A>G (p.Lys2416=) c.5373A>G (p.Lys1791=) | gnomAD v4 |
| 6 | g.129460310A>T | CA365619426 | LAMA2 | c.6978A>T (p.Lys2326Asn) c.7242A>T (p.Lys2414Asn) n.609A>T n.317A>T c.6975A>T (p.Lys2325Asn) c.7236A>T (p.Lys2412Asn) c.7248A>T (p.Lys2416Asn) c.5373A>T (p.Lys1791Asn) | |
| 6 | g.129460311G>A | CA365619428 | LAMA2 | c.6979G>A (p.Gly2327Arg) c.7243G>A (p.Gly2415Arg) n.610G>A n.318G>A c.6976G>A (p.Gly2326Arg) c.7237G>A (p.Gly2413Arg) c.7249G>A (p.Gly2417Arg) c.5374G>A (p.Gly1792Arg) | |
| 6 | g.129460311G>C | CA365619430 | LAMA2 | c.6979G>C (p.Gly2327Arg) c.7243G>C (p.Gly2415Arg) n.610G>C n.318G>C c.6976G>C (p.Gly2326Arg) c.7237G>C (p.Gly2413Arg) c.7249G>C (p.Gly2417Arg) c.5374G>C (p.Gly1792Arg) | |
| 6 | g.129460311G>T | CA365619431 | LAMA2 | c.6979G>T (p.Gly2327Ter) c.7243G>T (p.Gly2415Ter) n.610G>T n.318G>T c.6976G>T (p.Gly2326Ter) c.7237G>T (p.Gly2413Ter) c.7249G>T (p.Gly2417Ter) c.5374G>T (p.Gly1792Ter) | gnomAD v4 |
| 6 | g.129460312G>A | CA365619433 | LAMA2 | c.6980G>A (p.Gly2327Glu) c.7244G>A (p.Gly2415Glu) n.611G>A n.319G>A c.6977G>A (p.Gly2326Glu) c.7238G>A (p.Gly2413Glu) c.7250G>A (p.Gly2417Glu) c.5375G>A (p.Gly1792Glu) | dbSNP |
| 6 | g.129460312G>C | CA365619434 | LAMA2 | c.6980G>C (p.Gly2327Ala) c.7244G>C (p.Gly2415Ala) n.611G>C n.319G>C c.6977G>C (p.Gly2326Ala) c.7238G>C (p.Gly2413Ala) c.7250G>C (p.Gly2417Ala) c.5375G>C (p.Gly1792Ala) | gnomAD v4 |
| 6 | g.129460312G>T | CA365619436 | LAMA2 | c.6980G>T (p.Gly2327Val) c.7244G>T (p.Gly2415Val) n.611G>T n.319G>T c.6977G>T (p.Gly2326Val) c.7238G>T (p.Gly2413Val) c.7250G>T (p.Gly2417Val) c.5375G>T (p.Gly1792Val) | ClinVar |
| 6 | g.129460313A>C | CA451924986 | LAMA2 | c.6981A>C (p.Gly2327=) c.7245A>C (p.Gly2415=) n.612A>C n.320A>C c.6978A>C (p.Gly2326=) c.7239A>C (p.Gly2413=) c.7251A>C (p.Gly2417=) c.5376A>C (p.Gly1792=) | |
| 6 | g.129460313A>G | CA451924984 | LAMA2 | c.6981A>G (p.Gly2327=) c.7245A>G (p.Gly2415=) n.612A>G n.320A>G c.6978A>G (p.Gly2326=) c.7239A>G (p.Gly2413=) c.7251A>G (p.Gly2417=) c.5376A>G (p.Gly1792=) | |
| 6 | g.129460313A>T | CA451924985 | LAMA2 | c.6981A>T (p.Gly2327=) c.7245A>T (p.Gly2415=) n.612A>T n.320A>T c.6978A>T (p.Gly2326=) c.7239A>T (p.Gly2413=) c.7251A>T (p.Gly2417=) c.5376A>T (p.Gly1792=) | |
| 6 | g.129460314T>A | CA365619438 | LAMA2 | c.6982T>A (p.Cys2328Ser) c.7246T>A (p.Cys2416Ser) n.613T>A n.321T>A c.6979T>A (p.Cys2327Ser) c.7240T>A (p.Cys2414Ser) c.7252T>A (p.Cys2418Ser) c.5377T>A (p.Cys1793Ser) | |
| 6 | g.129460314T>C | CA365619440 | LAMA2 | c.6982T>C (p.Cys2328Arg) c.7246T>C (p.Cys2416Arg) n.613T>C n.321T>C c.6979T>C (p.Cys2327Arg) c.7240T>C (p.Cys2414Arg) c.7252T>C (p.Cys2418Arg) c.5377T>C (p.Cys1793Arg) | |
| 6 | g.129460314T>G | CA365619441 | LAMA2 | c.6982T>G (p.Cys2328Gly) c.7246T>G (p.Cys2416Gly) n.613T>G n.321T>G c.6979T>G (p.Cys2327Gly) c.7240T>G (p.Cys2414Gly) c.7252T>G (p.Cys2418Gly) c.5377T>G (p.Cys1793Gly) | |
| 6 | g.129460315G>A | CA365619445 | LAMA2 | c.6983G>A (p.Cys2328Tyr) c.7247G>A (p.Cys2416Tyr) n.614G>A n.322G>A c.6980G>A (p.Cys2327Tyr) c.7241G>A (p.Cys2414Tyr) c.7253G>A (p.Cys2418Tyr) c.5378G>A (p.Cys1793Tyr) | |
| 6 | g.129460315G>C | CA365619446 | LAMA2 | c.6983G>C (p.Cys2328Ser) c.7247G>C (p.Cys2416Ser) n.614G>C n.322G>C c.6980G>C (p.Cys2327Ser) c.7241G>C (p.Cys2414Ser) c.7253G>C (p.Cys2418Ser) c.5378G>C (p.Cys1793Ser) | |
| 6 | g.129460315G>T | CA365619443 | LAMA2 | c.6983G>T (p.Cys2328Phe) c.7247G>T (p.Cys2416Phe) n.614G>T n.322G>T c.6980G>T (p.Cys2327Phe) c.7241G>T (p.Cys2414Phe) c.7253G>T (p.Cys2418Phe) c.5378G>T (p.Cys1793Phe) | gnomAD v4 |
| 6 | g.129460316C>A | CA365619449 | LAMA2 | c.6984C>A (p.Cys2328Ter) c.7248C>A (p.Cys2416Ter) n.615C>A n.323C>A c.6981C>A (p.Cys2327Ter) c.7242C>A (p.Cys2414Ter) c.7254C>A (p.Cys2418Ter) c.5379C>A (p.Cys1793Ter) | |
| 6 | g.129460316C>G | CA365619448 | LAMA2 | c.6984C>G (p.Cys2328Trp) c.7248C>G (p.Cys2416Trp) n.615C>G n.323C>G c.6981C>G (p.Cys2327Trp) c.7242C>G (p.Cys2414Trp) c.7254C>G (p.Cys2418Trp) c.5379C>G (p.Cys1793Trp) | |
| 6 | g.129460316C>T | CA451924988 | LAMA2 | c.6984C>T (p.Cys2328=) c.7248C>T (p.Cys2416=) n.615C>T n.323C>T c.6981C>T (p.Cys2327=) c.7242C>T (p.Cys2414=) c.7254C>T (p.Cys2418=) c.5379C>T (p.Cys1793=) | |
| 6 | g.129460316_129460320delinsCACTG | CA1663188460 | LAMA2 | c.6984_6988delinsCACTG (p.Cys2328=) c.7248_7252delinsCACTG (p.Cys2416=) n.615_619delinsCACTG n.323_327delinsCACTG c.6981_6985delinsCACTG (p.Cys2327=) c.7242_7246delinsCACTG (p.Cys2414=) c.7254_7258delinsCACTG (p.Cys2418=) c.5379_5383delinsCACTG (p.Cys1793=) | |
| 6 | g.129460317A= | CA1663188466 | LAMA2 | c.6985A= (p.Thr2329=) c.7249A= (p.Thr2417=) n.616A= n.324A= c.6982A= (p.Thr2328=) c.7243A= (p.Thr2415=) c.7255A= (p.Thr2419=) c.5380A= (p.Thr1794=) | |
| 6 | g.129460317A>C | CA365619451 | LAMA2 | c.6985A>C (p.Thr2329Pro) c.7249A>C (p.Thr2417Pro) n.616A>C n.324A>C c.6982A>C (p.Thr2328Pro) c.7243A>C (p.Thr2415Pro) c.7255A>C (p.Thr2419Pro) c.5380A>C (p.Thr1794Pro) | gnomAD v4 |
| 6 | g.129460317A>G | CA3994403 | LAMA2 | c.6985A>G (p.Thr2329Ala) c.7249A>G (p.Thr2417Ala) n.616A>G n.324A>G c.6982A>G (p.Thr2328Ala) c.7243A>G (p.Thr2415Ala) c.7255A>G (p.Thr2419Ala) c.5380A>G (p.Thr1794Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129460317A>T | CA365619453 | LAMA2 | c.6985A>T (p.Thr2329Ser) c.7249A>T (p.Thr2417Ser) n.616A>T n.324A>T c.6982A>T (p.Thr2328Ser) c.7243A>T (p.Thr2415Ser) c.7255A>T (p.Thr2419Ser) c.5380A>T (p.Thr1794Ser) | |
| 6 | g.129460317_129460320del | CA16621847 | LAMA2 | c.6985_6988del (p.Thr2329SerfsTer?) c.7249_7252del (p.Thr2417SerfsTer?) n.616_619del n.324_327del c.6982_6985del (p.Thr2328SerfsTer?) c.7243_7246del (p.Thr2415SerfsTer?) c.7255_7258del (p.Thr2419SerfsTer?) c.5380_5383del (p.Thr1794SerfsTer?) | ClinVar dbSNP |
| 6 | g.129460318C>A | CA365619455 | LAMA2 | c.6986C>A (p.Thr2329Asn) c.7250C>A (p.Thr2417Asn) n.617C>A n.325C>A c.6983C>A (p.Thr2328Asn) c.7244C>A (p.Thr2415Asn) c.7256C>A (p.Thr2419Asn) c.5381C>A (p.Thr1794Asn) | |
| 6 | g.129460318C>G | CA365619456 | LAMA2 | c.6986C>G (p.Thr2329Ser) c.7250C>G (p.Thr2417Ser) n.617C>G n.325C>G c.6983C>G (p.Thr2328Ser) c.7244C>G (p.Thr2415Ser) c.7256C>G (p.Thr2419Ser) c.5381C>G (p.Thr1794Ser) | |
| 6 | g.129460318C>T | CA365619458 | LAMA2 | c.6986C>T (p.Thr2329Ile) c.7250C>T (p.Thr2417Ile) n.617C>T n.325C>T c.6983C>T (p.Thr2328Ile) c.7244C>T (p.Thr2415Ile) c.7256C>T (p.Thr2419Ile) c.5381C>T (p.Thr1794Ile) | |
| 6 | g.129460319T>A | CA451924992 | LAMA2 | c.6987T>A (p.Thr2329=) c.7251T>A (p.Thr2417=) n.618T>A n.326T>A c.6984T>A (p.Thr2328=) c.7245T>A (p.Thr2415=) c.7257T>A (p.Thr2419=) c.5382T>A (p.Thr1794=) | |
| 6 | g.129460319T>C | CA451924989 | LAMA2 | c.6987T>C (p.Thr2329=) c.7251T>C (p.Thr2417=) n.618T>C n.326T>C c.6984T>C (p.Thr2328=) c.7245T>C (p.Thr2415=) c.7257T>C (p.Thr2419=) c.5382T>C (p.Thr1794=) | |
| 6 | g.129460319T>G | CA451924991 | LAMA2 | c.6987T>G (p.Thr2329=) c.7251T>G (p.Thr2417=) n.618T>G n.326T>G c.6984T>G (p.Thr2328=) c.7245T>G (p.Thr2415=) c.7257T>G (p.Thr2419=) c.5382T>G (p.Thr1794=) | |
| 6 | g.129460320G>A | CA365619460 | LAMA2 | c.6988G>A (p.Val2330Ile) c.7252G>A (p.Val2418Ile) n.619G>A n.327G>A c.6985G>A (p.Val2329Ile) c.7246G>A (p.Val2416Ile) c.7258G>A (p.Val2420Ile) c.5383G>A (p.Val1795Ile) | |
| 6 | g.129460320G>C | CA365619462 | LAMA2 | c.6988G>C (p.Val2330Leu) c.7252G>C (p.Val2418Leu) n.619G>C n.327G>C c.6985G>C (p.Val2329Leu) c.7246G>C (p.Val2416Leu) c.7258G>C (p.Val2420Leu) c.5383G>C (p.Val1795Leu) | |
| 6 | g.129460320G>T | CA365619463 | LAMA2 | c.6988G>T (p.Val2330Phe) c.7252G>T (p.Val2418Phe) n.619G>T n.327G>T c.6985G>T (p.Val2329Phe) c.7246G>T (p.Val2416Phe) c.7258G>T (p.Val2420Phe) c.5383G>T (p.Val1795Phe) | |
| 6 | g.129460321T>A | CA365619465 | LAMA2 | c.6989T>A (p.Val2330Asp) c.7253T>A (p.Val2418Asp) n.620T>A n.328T>A c.6986T>A (p.Val2329Asp) c.7247T>A (p.Val2416Asp) c.7259T>A (p.Val2420Asp) c.5384T>A (p.Val1795Asp) | |
| 6 | g.129460321T>C | CA365619467 | LAMA2 | c.6989T>C (p.Val2330Ala) c.7253T>C (p.Val2418Ala) n.620T>C n.328T>C c.6986T>C (p.Val2329Ala) c.7247T>C (p.Val2416Ala) c.7259T>C (p.Val2420Ala) c.5384T>C (p.Val1795Ala) | |
| 6 | g.129460321T>G | CA365619468 | LAMA2 | c.6989T>G (p.Val2330Gly) c.7253T>G (p.Val2418Gly) n.620T>G n.328T>G c.6986T>G (p.Val2329Gly) c.7247T>G (p.Val2416Gly) c.7259T>G (p.Val2420Gly) c.5384T>G (p.Val1795Gly) | |
| 6 | g.129460322C>A | CA451924993 | LAMA2 | c.6990C>A (p.Val2330=) c.7254C>A (p.Val2418=) n.621C>A n.329C>A c.6987C>A (p.Val2329=) c.7248C>A (p.Val2416=) c.7260C>A (p.Val2420=) c.5385C>A (p.Val1795=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129460322C= | CA1663188469 | LAMA2 | c.6990C= (p.Val2330=) c.7254C= (p.Val2418=) n.621C= n.329C= c.6987C= (p.Val2329=) c.7248C= (p.Val2416=) c.7260C= (p.Val2420=) c.5385C= (p.Val1795=) | |
| 6 | g.129460322C>G | CA146888618 | LAMA2 | c.6990C>G (p.Val2330=) c.7254C>G (p.Val2418=) n.621C>G n.329C>G c.6987C>G (p.Val2329=) c.7248C>G (p.Val2416=) c.7260C>G (p.Val2420=) c.5385C>G (p.Val1795=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129460322C>T | CA451924995 | LAMA2 | c.6990C>T (p.Val2330=) c.7254C>T (p.Val2418=) n.621C>T n.329C>T c.6987C>T (p.Val2329=) c.7248C>T (p.Val2416=) c.7260C>T (p.Val2420=) c.5385C>T (p.Val1795=) | |
| 6 | g.129460323A>C | CA365619472 | LAMA2 | c.6991A>C (p.Ser2331Arg) c.7255A>C (p.Ser2419Arg) n.622A>C n.330A>C c.6988A>C (p.Ser2330Arg) c.7249A>C (p.Ser2417Arg) c.7261A>C (p.Ser2421Arg) c.5386A>C (p.Ser1796Arg) | |
| 6 | g.129460323A>G | CA365619469 | LAMA2 | c.6991A>G (p.Ser2331Gly) c.7255A>G (p.Ser2419Gly) n.622A>G n.330A>G c.6988A>G (p.Ser2330Gly) c.7249A>G (p.Ser2417Gly) c.7261A>G (p.Ser2421Gly) c.5386A>G (p.Ser1796Gly) | |
| 6 | g.129460323A>T | CA365619470 | LAMA2 | c.6991A>T (p.Ser2331Cys) c.7255A>T (p.Ser2419Cys) n.622A>T n.330A>T c.6988A>T (p.Ser2330Cys) c.7249A>T (p.Ser2417Cys) c.7261A>T (p.Ser2421Cys) c.5386A>T (p.Ser1796Cys) | |
| 6 | g.129460324G>A | CA365619474 | LAMA2 | c.6992G>A (p.Ser2331Asn) c.7256G>A (p.Ser2419Asn) n.623G>A n.331G>A c.6989G>A (p.Ser2330Asn) c.7250G>A (p.Ser2417Asn) c.7262G>A (p.Ser2421Asn) c.5387G>A (p.Ser1796Asn) | |
| 6 | g.129460324G>C | CA365619475 | LAMA2 | c.6992G>C (p.Ser2331Thr) c.7256G>C (p.Ser2419Thr) n.623G>C n.331G>C c.6989G>C (p.Ser2330Thr) c.7250G>C (p.Ser2417Thr) c.7262G>C (p.Ser2421Thr) c.5387G>C (p.Ser1796Thr) | gnomAD v4 |
| 6 | g.129460324G>T | CA365619476 | LAMA2 | c.6992G>T (p.Ser2331Ile) c.7256G>T (p.Ser2419Ile) n.623G>T n.331G>T c.6989G>T (p.Ser2330Ile) c.7250G>T (p.Ser2417Ile) c.7262G>T (p.Ser2421Ile) c.5387G>T (p.Ser1796Ile) | |
| 6 | g.129460325G>A | CA365619478 | LAMA2 | c.6992+1G>A (n.6992+1G>A) c.7256+1G>A (n.7256+1G>A) n.623+1G>A n.331+1G>A c.6989+1G>A (n.6989+1G>A) c.7250+1G>A (n.7250+1G>A) c.7262+1G>A (n.7262+1G>A) c.5387+1G>A (n.5387+1G>A) | |
| 6 | g.129460325G>C | CA365619480 | LAMA2 | c.6992+1G>C (n.6992+1G>C) c.7256+1G>C (n.7256+1G>C) n.623+1G>C n.331+1G>C c.6989+1G>C (n.6989+1G>C) c.7250+1G>C (n.7250+1G>C) c.7262+1G>C (n.7262+1G>C) c.5387+1G>C (n.5387+1G>C) | |
| 6 | g.129460325G= | CA1663188472 | LAMA2 | c.6992+1G= (n.6992+1G=) c.7256+1G= (n.7256+1G=) n.623+1G= n.331+1G= c.6989+1G= (n.6989+1G=) c.7250+1G= (n.7250+1G=) c.7262+1G= (n.7262+1G=) c.5387+1G= (n.5387+1G=) | |
| 6 | g.129460325G>T | CA365619482 | LAMA2 | c.6992+1G>T (n.6992+1G>T) c.7256+1G>T (n.7256+1G>T) n.623+1G>T n.331+1G>T c.6989+1G>T (n.6989+1G>T) c.7250+1G>T (n.7250+1G>T) c.7262+1G>T (n.7262+1G>T) c.5387+1G>T (n.5387+1G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129460326T>A | CA365619483 | LAMA2 | c.6992+2T>A (n.6992+2T>A) c.7256+2T>A (n.7256+2T>A) n.623+2T>A n.331+2T>A c.6989+2T>A (n.6989+2T>A) c.7250+2T>A (n.7250+2T>A) c.7262+2T>A (n.7262+2T>A) c.5387+2T>A (n.5387+2T>A) | |
| 6 | g.129460326T>C | CA365619484 | LAMA2 | c.6992+2T>C (n.6992+2T>C) c.7256+2T>C (n.7256+2T>C) n.623+2T>C n.331+2T>C c.6989+2T>C (n.6989+2T>C) c.7250+2T>C (n.7250+2T>C) c.7262+2T>C (n.7262+2T>C) c.5387+2T>C (n.5387+2T>C) | COSMIC |
| 6 | g.129460326T>G | CA365619486 | LAMA2 | c.6992+2T>G (n.6992+2T>G) c.7256+2T>G (n.7256+2T>G) n.623+2T>G n.331+2T>G c.6989+2T>G (n.6989+2T>G) c.7250+2T>G (n.7250+2T>G) c.7262+2T>G (n.7262+2T>G) c.5387+2T>G (n.5387+2T>G) | |
| 6 | g.129460327T>G | CA2697553708 | LAMA2 | c.6992+3T>G (n.6992+3T>G) c.7256+3T>G (n.7256+3T>G) n.623+3T>G n.331+3T>G c.6989+3T>G (n.6989+3T>G) c.7250+3T>G (n.7250+3T>G) c.7262+3T>G (n.7262+3T>G) c.5387+3T>G (n.5387+3T>G) | ClinVar |
| 6 | g.129460329G>A | CA570054380 | LAMA2 | c.6992+5G>A (n.6992+5G>A) c.7256+5G>A (n.7256+5G>A) n.623+5G>A n.331+5G>A c.6989+5G>A (n.6989+5G>A) c.7250+5G>A (n.7250+5G>A) c.7262+5G>A (n.7262+5G>A) c.5387+5G>A (n.5387+5G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129460329G= | CA1663188474 | LAMA2 | c.6992+5G= (n.6992+5G=) c.7256+5G= (n.7256+5G=) n.623+5G= n.331+5G= c.6989+5G= (n.6989+5G=) c.7250+5G= (n.7250+5G=) c.7262+5G= (n.7262+5G=) c.5387+5G= (n.5387+5G=) | |
| 6 | g.129460330T>C | CA570054381 | LAMA2 | c.6992+6T>C (n.6992+6T>C) c.7256+6T>C (n.7256+6T>C) n.623+6T>C n.331+6T>C c.6989+6T>C (n.6989+6T>C) c.7250+6T>C (n.7250+6T>C) c.7262+6T>C (n.7262+6T>C) c.5387+6T>C (n.5387+6T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129460330T= | CA1663188476 | LAMA2 | c.6992+6T= (n.6992+6T=) c.7256+6T= (n.7256+6T=) n.623+6T= n.331+6T= c.6989+6T= (n.6989+6T=) c.7250+6T= (n.7250+6T=) c.7262+6T= (n.7262+6T=) c.5387+6T= (n.5387+6T=) | |
| 6 | g.129460332G>A | CA2773026634 | LAMA2 | c.6992+8G>A (n.6992+8G>A) c.7256+8G>A (n.7256+8G>A) n.623+8G>A n.331+8G>A c.6989+8G>A (n.6989+8G>A) c.7250+8G>A (n.7250+8G>A) c.7262+8G>A (n.7262+8G>A) c.5387+8G>A (n.5387+8G>A) | |
| 6 | g.129460333A>G | CA2773026635 | LAMA2 | c.6992+9A>G (n.6992+9A>G) c.7256+9A>G (n.7256+9A>G) n.623+9A>G n.331+9A>G c.6989+9A>G (n.6989+9A>G) c.7250+9A>G (n.7250+9A>G) c.7262+9A>G (n.7262+9A>G) c.5387+9A>G (n.5387+9A>G) | |
| 6 | g.129460334G>C | CA2573140495 | LAMA2 | c.6992+10G>C (n.6992+10G>C) c.7256+10G>C (n.7256+10G>C) n.623+10G>C n.331+10G>C c.6989+10G>C (n.6989+10G>C) c.7250+10G>C (n.7250+10G>C) c.7262+10G>C (n.7262+10G>C) c.5387+10G>C (n.5387+10G>C) | ClinVar dbSNP |
| 6 | g.129460334G>T | CA2680307083 | LAMA2 | c.6992+10G>T (n.6992+10G>T) c.7256+10G>T (n.7256+10G>T) n.623+10G>T n.331+10G>T c.6989+10G>T (n.6989+10G>T) c.7250+10G>T (n.7250+10G>T) c.7262+10G>T (n.7262+10G>T) c.5387+10G>T (n.5387+10G>T) | gnomAD v4 |
| 6 | g.129460336T>G | CA1663188479 | LAMA2 | c.6992+12T>G (n.6992+12T>G) c.7256+12T>G (n.7256+12T>G) n.623+12T>G n.331+12T>G c.6989+12T>G (n.6989+12T>G) c.7250+12T>G (n.7250+12T>G) c.7262+12T>G (n.7262+12T>G) c.5387+12T>G (n.5387+12T>G) | dbSNP |
| 6 | g.129460336T= | CA1663188478 | LAMA2 | c.6992+12T= (n.6992+12T=) c.7256+12T= (n.7256+12T=) n.623+12T= n.331+12T= c.6989+12T= (n.6989+12T=) c.7250+12T= (n.7250+12T=) c.7262+12T= (n.7262+12T=) c.5387+12T= (n.5387+12T=) | |
| 6 | g.129460337G>A | CA2580074972 | LAMA2 | c.6992+13G>A (n.6992+13G>A) c.7256+13G>A (n.7256+13G>A) n.623+13G>A n.331+13G>A c.6989+13G>A (n.6989+13G>A) c.7250+13G>A (n.7250+13G>A) c.7262+13G>A (n.7262+13G>A) c.5387+13G>A (n.5387+13G>A) | ClinVar |
| 6 | g.129460337G>C | CA3994404 | LAMA2 | c.6992+13G>C (n.6992+13G>C) c.7256+13G>C (n.7256+13G>C) n.623+13G>C n.331+13G>C c.6989+13G>C (n.6989+13G>C) c.7250+13G>C (n.7250+13G>C) c.7262+13G>C (n.7262+13G>C) c.5387+13G>C (n.5387+13G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129460337G= | CA1663188480 | LAMA2 | c.6992+13G= (n.6992+13G=) c.7256+13G= (n.7256+13G=) n.623+13G= n.331+13G= c.6989+13G= (n.6989+13G=) c.7250+13G= (n.7250+13G=) c.7262+13G= (n.7262+13G=) c.5387+13G= (n.5387+13G=) | |
| 6 | g.129460338A>G | CA2680307084 | LAMA2 | c.6992+14A>G (n.6992+14A>G) c.7256+14A>G (n.7256+14A>G) n.623+14A>G n.331+14A>G c.6989+14A>G (n.6989+14A>G) c.7250+14A>G (n.7250+14A>G) c.7262+14A>G (n.7262+14A>G) c.5387+14A>G (n.5387+14A>G) | gnomAD v4 |
| 6 | g.129460339G= | CA1663188484 | LAMA2 | c.6992+15G= (n.6992+15G=) c.7256+15G= (n.7256+15G=) n.623+15G= n.331+15G= c.6989+15G= (n.6989+15G=) c.7250+15G= (n.7250+15G=) c.7262+15G= (n.7262+15G=) c.5387+15G= (n.5387+15G=) | |
| 6 | g.129460339G>T | CA3994405 | LAMA2 | c.6992+15G>T (n.6992+15G>T) c.7256+15G>T (n.7256+15G>T) n.623+15G>T n.331+15G>T c.6989+15G>T (n.6989+15G>T) c.7250+15G>T (n.7250+15G>T) c.7262+15G>T (n.7262+15G>T) c.5387+15G>T (n.5387+15G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129460342C>A | CA2680307085 | LAMA2 | c.6992+18C>A (n.6992+18C>A) c.7256+18C>A (n.7256+18C>A) n.623+18C>A n.331+18C>A c.6989+18C>A (n.6989+18C>A) c.7250+18C>A (n.7250+18C>A) c.7262+18C>A (n.7262+18C>A) c.5387+18C>A (n.5387+18C>A) | gnomAD v4 |
| 6 | g.129460342C>G | CA2697553709 | LAMA2 | c.6992+18C>G (n.6992+18C>G) c.7256+18C>G (n.7256+18C>G) n.623+18C>G n.331+18C>G c.6989+18C>G (n.6989+18C>G) c.7250+18C>G (n.7250+18C>G) c.7262+18C>G (n.7262+18C>G) c.5387+18C>G (n.5387+18C>G) | ClinVar |
| 6 | g.129460343T>G | CA2739266118 | LAMA2 | c.6992+19T>G (n.6992+19T>G) c.7256+19T>G (n.7256+19T>G) n.623+19T>G n.331+19T>G c.6989+19T>G (n.6989+19T>G) c.7250+19T>G (n.7250+19T>G) c.7262+19T>G (n.7262+19T>G) c.5387+19T>G (n.5387+19T>G) | ClinVar |
| 6 | g.129460346C>A | CA2680307086 | LAMA2 | c.6992+22C>A (n.6992+22C>A) c.7256+22C>A (n.7256+22C>A) n.623+22C>A n.331+22C>A c.6989+22C>A (n.6989+22C>A) c.7250+22C>A (n.7250+22C>A) c.7262+22C>A (n.7262+22C>A) c.5387+22C>A (n.5387+22C>A) | gnomAD v4 |
| 6 | g.129460346C>T | CA2680307087 | LAMA2 | c.6992+22C>T (n.6992+22C>T) c.7256+22C>T (n.7256+22C>T) n.623+22C>T n.331+22C>T c.6989+22C>T (n.6989+22C>T) c.7250+22C>T (n.7250+22C>T) c.7262+22C>T (n.7262+22C>T) c.5387+22C>T (n.5387+22C>T) | gnomAD v4 |
| 6 | g.129460348del | CA2578756771 | LAMA2 | c.6992+24del (n.6992+24del) c.7256+24del (n.7256+24del) n.623+24del n.331+24del c.6989+24del (n.6989+24del) c.7250+24del (n.7250+24del) c.7262+24del (n.7262+24del) c.5387+24del (n.5387+24del) | |
| 6 | g.129460347C= | CA1663188487 | LAMA2 | c.6992+23C= (n.6992+23C=) c.7256+23C= (n.7256+23C=) n.623+23C= n.331+23C= c.6989+23C= (n.6989+23C=) c.7250+23C= (n.7250+23C=) c.7262+23C= (n.7262+23C=) c.5387+23C= (n.5387+23C=) | |
| 6 | g.129460347C>T | CA818841798 | LAMA2 | c.6992+23C>T (n.6992+23C>T) c.7256+23C>T (n.7256+23C>T) n.623+23C>T n.331+23C>T c.6989+23C>T (n.6989+23C>T) c.7250+23C>T (n.7250+23C>T) c.7262+23C>T (n.7262+23C>T) c.5387+23C>T (n.5387+23C>T) | dbSNP |
| 6 | g.129460348C>A | CA1663188489 | LAMA2 | c.6992+24C>A (n.6992+24C>A) c.7256+24C>A (n.7256+24C>A) n.623+24C>A n.331+24C>A c.6989+24C>A (n.6989+24C>A) c.7250+24C>A (n.7250+24C>A) c.7262+24C>A (n.7262+24C>A) c.5387+24C>A (n.5387+24C>A) | dbSNP gnomAD v4 |
| 6 | g.129460348C= | CA1663188488 | LAMA2 | c.6992+24C= (n.6992+24C=) c.7256+24C= (n.7256+24C=) n.623+24C= n.331+24C= c.6989+24C= (n.6989+24C=) c.7250+24C= (n.7250+24C=) c.7262+24C= (n.7262+24C=) c.5387+24C= (n.5387+24C=) | |
| 6 | g.129460348C>T | CA2680307088 | LAMA2 | c.6992+24C>T (n.6992+24C>T) c.7256+24C>T (n.7256+24C>T) n.623+24C>T n.331+24C>T c.6989+24C>T (n.6989+24C>T) c.7250+24C>T (n.7250+24C>T) c.7262+24C>T (n.7262+24C>T) c.5387+24C>T (n.5387+24C>T) | gnomAD v4 |
| 6 | g.129460349A= | CA1663188491 | LAMA2 | c.6992+25A= (n.6992+25A=) c.7256+25A= (n.7256+25A=) n.623+25A= n.331+25A= c.6989+25A= (n.6989+25A=) c.7250+25A= (n.7250+25A=) c.7262+25A= (n.7262+25A=) c.5387+25A= (n.5387+25A=) | |
| 6 | g.129460349A>G | CA818841799 | LAMA2 | c.6992+25A>G (n.6992+25A>G) c.7256+25A>G (n.7256+25A>G) n.623+25A>G n.331+25A>G c.6989+25A>G (n.6989+25A>G) c.7250+25A>G (n.7250+25A>G) c.7262+25A>G (n.7262+25A>G) c.5387+25A>G (n.5387+25A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129460350G>A | CA146888630 | LAMA2 | c.6992+26G>A (n.6992+26G>A) c.7256+26G>A (n.7256+26G>A) n.623+26G>A n.331+26G>A c.6989+26G>A (n.6989+26G>A) c.7250+26G>A (n.7250+26G>A) c.7262+26G>A (n.7262+26G>A) c.5387+26G>A (n.5387+26G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129460350G= | CA1663188492 | LAMA2 | c.6992+26G= (n.6992+26G=) c.7256+26G= (n.7256+26G=) n.623+26G= n.331+26G= c.6989+26G= (n.6989+26G=) c.7250+26G= (n.7250+26G=) c.7262+26G= (n.7262+26G=) c.5387+26G= (n.5387+26G=) | |
| 6 | g.129460351G= | CA1663188495 | LAMA2 | c.6992+27G= (n.6992+27G=) c.7256+27G= (n.7256+27G=) n.623+27G= n.331+27G= c.6989+27G= (n.6989+27G=) c.7250+27G= (n.7250+27G=) c.7262+27G= (n.7262+27G=) c.5387+27G= (n.5387+27G=) | |
| 6 | g.129460351G>T | CA1663188496 | LAMA2 | c.6992+27G>T (n.6992+27G>T) c.7256+27G>T (n.7256+27G>T) n.623+27G>T n.331+27G>T c.6989+27G>T (n.6989+27G>T) c.7250+27G>T (n.7250+27G>T) c.7262+27G>T (n.7262+27G>T) c.5387+27G>T (n.5387+27G>T) | dbSNP gnomAD v4 |
| 6 | g.129460352G>A | CA2578756772 | LAMA2 | c.6992+28G>A (n.6992+28G>A) c.7256+28G>A (n.7256+28G>A) n.623+28G>A n.331+28G>A c.6989+28G>A (n.6989+28G>A) c.7250+28G>A (n.7250+28G>A) c.7262+28G>A (n.7262+28G>A) c.5387+28G>A (n.5387+28G>A) | gnomAD v4 |
| 6 | g.129460354C>A | CA2680307089 | LAMA2 | c.6992+30C>A (n.6992+30C>A) c.7256+30C>A (n.7256+30C>A) n.623+30C>A n.331+30C>A c.6989+30C>A (n.6989+30C>A) c.7250+30C>A (n.7250+30C>A) c.7262+30C>A (n.7262+30C>A) c.5387+30C>A (n.5387+30C>A) | gnomAD v4 |
| 6 | g.129460356G= | CA1663188497 | LAMA2 | c.6992+32G= (n.6992+32G=) c.7256+32G= (n.7256+32G=) n.623+32G= n.331+32G= c.6989+32G= (n.6989+32G=) c.7250+32G= (n.7250+32G=) c.7262+32G= (n.7262+32G=) c.5387+32G= (n.5387+32G=) | |
| 6 | g.129460356G>T | CA1663188498 | LAMA2 | c.6992+32G>T (n.6992+32G>T) c.7256+32G>T (n.7256+32G>T) n.623+32G>T n.331+32G>T c.6989+32G>T (n.6989+32G>T) c.7250+32G>T (n.7250+32G>T) c.7262+32G>T (n.7262+32G>T) c.5387+32G>T (n.5387+32G>T) | dbSNP |
| 6 | g.129460357T>C | CA2680307090 | LAMA2 | c.6992+33T>C (n.6992+33T>C) c.7256+33T>C (n.7256+33T>C) n.623+33T>C n.331+33T>C c.6989+33T>C (n.6989+33T>C) c.7250+33T>C (n.7250+33T>C) c.7262+33T>C (n.7262+33T>C) c.5387+33T>C (n.5387+33T>C) | gnomAD v4 |
| 6 | g.129460358C>A | CA3994406 | LAMA2 | c.6992+34C>A (n.6992+34C>A) c.7256+34C>A (n.7256+34C>A) n.623+34C>A n.331+34C>A c.6989+34C>A (n.6989+34C>A) c.7250+34C>A (n.7250+34C>A) c.7262+34C>A (n.7262+34C>A) c.5387+34C>A (n.5387+34C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129460358C= | CA1663188500 | LAMA2 | c.6992+34C= (n.6992+34C=) c.7256+34C= (n.7256+34C=) n.623+34C= n.331+34C= c.6989+34C= (n.6989+34C=) c.7250+34C= (n.7250+34C=) c.7262+34C= (n.7262+34C=) c.5387+34C= (n.5387+34C=) | |
| 6 | g.129460359C>A | CA2680307091 | LAMA2 | c.6992+35C>A (n.6992+35C>A) c.7256+35C>A (n.7256+35C>A) n.623+35C>A n.331+35C>A c.6989+35C>A (n.6989+35C>A) c.7250+35C>A (n.7250+35C>A) c.7262+35C>A (n.7262+35C>A) c.5387+35C>A (n.5387+35C>A) | gnomAD v4 |
| 6 | g.129460359C>T | CA2578756773 | LAMA2 | c.6992+35C>T (n.6992+35C>T) c.7256+35C>T (n.7256+35C>T) n.623+35C>T n.331+35C>T c.6989+35C>T (n.6989+35C>T) c.7250+35C>T (n.7250+35C>T) c.7262+35C>T (n.7262+35C>T) c.5387+35C>T (n.5387+35C>T) | gnomAD v4 |
| 6 | g.129460361G>A | CA2680307093 | LAMA2 | c.6992+37G>A (n.6992+37G>A) c.7256+37G>A (n.7256+37G>A) n.623+37G>A n.331+37G>A c.6989+37G>A (n.6989+37G>A) c.7250+37G>A (n.7250+37G>A) c.7262+37G>A (n.7262+37G>A) c.5387+37G>A (n.5387+37G>A) | gnomAD v4 |
| 6 | g.129460362T>A | CA3994407 | LAMA2 | c.6992+38T>A (n.6992+38T>A) c.7256+38T>A (n.7256+38T>A) n.623+38T>A n.331+38T>A c.6989+38T>A (n.6989+38T>A) c.7250+38T>A (n.7250+38T>A) c.7262+38T>A (n.7262+38T>A) c.5387+38T>A (n.5387+38T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129460362T>C | CA2680307094 | LAMA2 | c.6992+38T>C (n.6992+38T>C) c.7256+38T>C (n.7256+38T>C) n.623+38T>C n.331+38T>C c.6989+38T>C (n.6989+38T>C) c.7250+38T>C (n.7250+38T>C) c.7262+38T>C (n.7262+38T>C) c.5387+38T>C (n.5387+38T>C) | gnomAD v4 |
| 6 | g.129460362T= | CA1663188501 | LAMA2 | c.6992+38T= (n.6992+38T=) c.7256+38T= (n.7256+38T=) n.623+38T= n.331+38T= c.6989+38T= (n.6989+38T=) c.7250+38T= (n.7250+38T=) c.7262+38T= (n.7262+38T=) c.5387+38T= (n.5387+38T=) | |
| 6 | g.129460363G>A | CA2740787202 | LAMA2 | c.6992+39G>A (n.6992+39G>A) c.7256+39G>A (n.7256+39G>A) n.623+39G>A n.331+39G>A c.6989+39G>A (n.6989+39G>A) c.7250+39G>A (n.7250+39G>A) c.7262+39G>A (n.7262+39G>A) c.5387+39G>A (n.5387+39G>A) | |
| 6 | g.129460364C>A | CA2680307095 | LAMA2 | c.6992+40C>A (n.6992+40C>A) c.7256+40C>A (n.7256+40C>A) n.623+40C>A n.331+40C>A c.6989+40C>A (n.6989+40C>A) c.7250+40C>A (n.7250+40C>A) c.7262+40C>A (n.7262+40C>A) c.5387+40C>A (n.5387+40C>A) | gnomAD v4 |
| 6 | g.129460364C>T | CA2773026637 | LAMA2 | c.6992+40C>T (n.6992+40C>T) c.7256+40C>T (n.7256+40C>T) n.623+40C>T n.331+40C>T c.6989+40C>T (n.6989+40C>T) c.7250+40C>T (n.7250+40C>T) c.7262+40C>T (n.7262+40C>T) c.5387+40C>T (n.5387+40C>T) | |
| 6 | g.129460365A= | CA1663188504 | LAMA2 | c.6992+41A= (n.6992+41A=) c.7256+41A= (n.7256+41A=) n.623+41A= n.331+41A= c.6989+41A= (n.6989+41A=) c.7250+41A= (n.7250+41A=) c.7262+41A= (n.7262+41A=) c.5387+41A= (n.5387+41A=) | |
| 6 | g.129460365A>C | CA2680307096 | LAMA2 | c.6992+41A>C (n.6992+41A>C) c.7256+41A>C (n.7256+41A>C) n.623+41A>C n.331+41A>C c.6989+41A>C (n.6989+41A>C) c.7250+41A>C (n.7250+41A>C) c.7262+41A>C (n.7262+41A>C) c.5387+41A>C (n.5387+41A>C) | gnomAD v4 |
| 6 | g.129460365A>G | CA146888635 | LAMA2 | c.6992+41A>G (n.6992+41A>G) c.7256+41A>G (n.7256+41A>G) n.623+41A>G n.331+41A>G c.6989+41A>G (n.6989+41A>G) c.7250+41A>G (n.7250+41A>G) c.7262+41A>G (n.7262+41A>G) c.5387+41A>G (n.5387+41A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129460365A>T | CA2680307097 | LAMA2 | c.6992+41A>T (n.6992+41A>T) c.7256+41A>T (n.7256+41A>T) n.623+41A>T n.331+41A>T c.6989+41A>T (n.6989+41A>T) c.7250+41A>T (n.7250+41A>T) c.7262+41A>T (n.7262+41A>T) c.5387+41A>T (n.5387+41A>T) | gnomAD v4 |
| 6 | g.129460366T>C | CA570054389 | LAMA2 | c.6992+42T>C (n.6992+42T>C) c.7256+42T>C (n.7256+42T>C) n.623+42T>C n.331+42T>C c.6989+42T>C (n.6989+42T>C) c.7250+42T>C (n.7250+42T>C) c.7262+42T>C (n.7262+42T>C) c.5387+42T>C (n.5387+42T>C) | dbSNP gnomAD v2 |
| 6 | g.129460366T= | CA1663188506 | LAMA2 | c.6992+42T= (n.6992+42T=) c.7256+42T= (n.7256+42T=) n.623+42T= n.331+42T= c.6989+42T= (n.6989+42T=) c.7250+42T= (n.7250+42T=) c.7262+42T= (n.7262+42T=) c.5387+42T= (n.5387+42T=) | |
| 6 | g.129460369T>C | CA570054391 | LAMA2 | c.6992+45T>C (n.6992+45T>C) c.7256+45T>C (n.7256+45T>C) n.623+45T>C n.331+45T>C c.6989+45T>C (n.6989+45T>C) c.7250+45T>C (n.7250+45T>C) c.7262+45T>C (n.7262+45T>C) c.5387+45T>C (n.5387+45T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129460369T>G | CA3994408 | LAMA2 | c.6992+45T>G (n.6992+45T>G) c.7256+45T>G (n.7256+45T>G) n.623+45T>G n.331+45T>G c.6989+45T>G (n.6989+45T>G) c.7250+45T>G (n.7250+45T>G) c.7262+45T>G (n.7262+45T>G) c.5387+45T>G (n.5387+45T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129460369T= | CA1663188508 | LAMA2 | c.6992+45T= (n.6992+45T=) c.7256+45T= (n.7256+45T=) n.623+45T= n.331+45T= c.6989+45T= (n.6989+45T=) c.7250+45T= (n.7250+45T=) c.7262+45T= (n.7262+45T=) c.5387+45T= (n.5387+45T=) | |
| 6 | g.129460370A= | CA1663188510 | LAMA2 | c.6992+46A= (n.6992+46A=) c.7256+46A= (n.7256+46A=) n.623+46A= n.331+46A= c.6989+46A= (n.6989+46A=) c.7250+46A= (n.7250+46A=) c.7262+46A= (n.7262+46A=) c.5387+46A= (n.5387+46A=) | |
| 6 | g.129460370A>G | CA1663188511 | LAMA2 | c.6992+46A>G (n.6992+46A>G) c.7256+46A>G (n.7256+46A>G) n.623+46A>G n.331+46A>G c.6989+46A>G (n.6989+46A>G) c.7250+46A>G (n.7250+46A>G) c.7262+46A>G (n.7262+46A>G) c.5387+46A>G (n.5387+46A>G) | dbSNP gnomAD v4 |
| 6 | g.129460370A>T | CA1094392091 | LAMA2 | c.6992+46A>T (n.6992+46A>T) c.7256+46A>T (n.7256+46A>T) n.623+46A>T n.331+46A>T c.6989+46A>T (n.6989+46A>T) c.7250+46A>T (n.7250+46A>T) c.7262+46A>T (n.7262+46A>T) c.5387+46A>T (n.5387+46A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129460373del | CA2680307098 | LAMA2 | c.6992+49del (n.6992+49del) c.7256+49del (n.7256+49del) n.623+49del n.331+49del c.6989+49del (n.6989+49del) c.7250+49del (n.7250+49del) c.7262+49del (n.7262+49del) c.5387+49del (n.5387+49del) | gnomAD v4 |
| 6 | g.129460371A>G | CA2680307099 | LAMA2 | c.6992+47A>G (n.6992+47A>G) c.7256+47A>G (n.7256+47A>G) n.623+47A>G n.331+47A>G c.6989+47A>G (n.6989+47A>G) c.7250+47A>G (n.7250+47A>G) c.7262+47A>G (n.7262+47A>G) c.5387+47A>G (n.5387+47A>G) | gnomAD v4 |
| 6 | g.129460374del | CA2680307100 | LAMA2 | c.6992+50del (n.6992+50del) c.7256+50del (n.7256+50del) n.623+50del n.331+50del c.6989+50del (n.6989+50del) c.7250+50del (n.7250+50del) c.7262+50del (n.7262+50del) c.5387+50del (n.5387+50del) | gnomAD v4 |
| 6 | g.129460374G>A | CA1094392092 | LAMA2 | c.6992+50G>A (n.6992+50G>A) c.7256+50G>A (n.7256+50G>A) n.623+50G>A n.331+50G>A c.6989+50G>A (n.6989+50G>A) c.7250+50G>A (n.7250+50G>A) c.7262+50G>A (n.7262+50G>A) c.5387+50G>A (n.5387+50G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129460374G>C | CA818841811 | LAMA2 | c.6992+50G>C (n.6992+50G>C) c.7256+50G>C (n.7256+50G>C) n.623+50G>C n.331+50G>C c.6989+50G>C (n.6989+50G>C) c.7250+50G>C (n.7250+50G>C) c.7262+50G>C (n.7262+50G>C) c.5387+50G>C (n.5387+50G>C) | dbSNP |
| 6 | g.129460374G= | CA1663188513 | LAMA2 | c.6992+50G= (n.6992+50G=) c.7256+50G= (n.7256+50G=) n.623+50G= n.331+50G= c.6989+50G= (n.6989+50G=) c.7250+50G= (n.7250+50G=) c.7262+50G= (n.7262+50G=) c.5387+50G= (n.5387+50G=) | |
| 6 | g.129460374G>T | CA3994409 | LAMA2 | c.6992+50G>T (n.6992+50G>T) c.7256+50G>T (n.7256+50G>T) n.623+50G>T n.331+50G>T c.6989+50G>T (n.6989+50G>T) c.7250+50G>T (n.7250+50G>T) c.7262+50G>T (n.7262+50G>T) c.5387+50G>T (n.5387+50G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129460375C>A | CA2680307101 | LAMA2 | c.6992+51C>A (n.6992+51C>A) c.7256+51C>A (n.7256+51C>A) n.623+51C>A n.331+51C>A c.6989+51C>A (n.6989+51C>A) c.7250+51C>A (n.7250+51C>A) c.7262+51C>A (n.7262+51C>A) c.5387+51C>A (n.5387+51C>A) | gnomAD v4 |
| 6 | g.129460375C= | CA1663188515 | LAMA2 | c.6992+51C= (n.6992+51C=) c.7256+51C= (n.7256+51C=) n.623+51C= n.331+51C= c.6989+51C= (n.6989+51C=) c.7250+51C= (n.7250+51C=) c.7262+51C= (n.7262+51C=) c.5387+51C= (n.5387+51C=) | |
| 6 | g.129460375C>T | CA1094392093 | LAMA2 | c.6992+51C>T (n.6992+51C>T) c.7256+51C>T (n.7256+51C>T) n.623+51C>T n.331+51C>T c.6989+51C>T (n.6989+51C>T) c.7250+51C>T (n.7250+51C>T) c.7262+51C>T (n.7262+51C>T) c.5387+51C>T (n.5387+51C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129460376T>C | CA2680307102 | LAMA2 | c.6992+52T>C (n.6992+52T>C) c.7256+52T>C (n.7256+52T>C) n.623+52T>C n.331+52T>C c.6989+52T>C (n.6989+52T>C) c.7250+52T>C (n.7250+52T>C) c.7262+52T>C (n.7262+52T>C) c.5387+52T>C (n.5387+52T>C) | gnomAD v4 |
| 6 | g.129460377T>C | CA2680307103 | LAMA2 | c.6992+53T>C (n.6992+53T>C) c.7256+53T>C (n.7256+53T>C) n.623+53T>C n.331+53T>C c.6989+53T>C (n.6989+53T>C) c.7250+53T>C (n.7250+53T>C) c.7262+53T>C (n.7262+53T>C) c.5387+53T>C (n.5387+53T>C) | gnomAD v4 |
| 6 | g.129460378C>A | CA1094392094 | LAMA2 | c.6992+54C>A (n.6992+54C>A) c.7256+54C>A (n.7256+54C>A) n.623+54C>A n.331+54C>A c.6989+54C>A (n.6989+54C>A) c.7250+54C>A (n.7250+54C>A) c.7262+54C>A (n.7262+54C>A) c.5387+54C>A (n.5387+54C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129460378C= | CA1663188516 | LAMA2 | c.6992+54C= (n.6992+54C=) c.7256+54C= (n.7256+54C=) n.623+54C= n.331+54C= c.6989+54C= (n.6989+54C=) c.7250+54C= (n.7250+54C=) c.7262+54C= (n.7262+54C=) c.5387+54C= (n.5387+54C=) | |
| 6 | g.129460378C>T | CA146888669 | LAMA2 | c.6992+54C>T (n.6992+54C>T) c.7256+54C>T (n.7256+54C>T) n.623+54C>T n.331+54C>T c.6989+54C>T (n.6989+54C>T) c.7250+54C>T (n.7250+54C>T) c.7262+54C>T (n.7262+54C>T) c.5387+54C>T (n.5387+54C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129460379G>A | CA146888671 | LAMA2 | c.6992+55G>A (n.6992+55G>A) c.7256+55G>A (n.7256+55G>A) n.623+55G>A n.331+55G>A c.6989+55G>A (n.6989+55G>A) c.7250+55G>A (n.7250+55G>A) c.7262+55G>A (n.7262+55G>A) c.5387+55G>A (n.5387+55G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129460379G>C | CA146888680 | LAMA2 | c.6992+55G>C (n.6992+55G>C) c.7256+55G>C (n.7256+55G>C) n.623+55G>C n.331+55G>C c.6989+55G>C (n.6989+55G>C) c.7250+55G>C (n.7250+55G>C) c.7262+55G>C (n.7262+55G>C) c.5387+55G>C (n.5387+55G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129460379G= | CA1663188522 | LAMA2 | c.6992+55G= (n.6992+55G=) c.7256+55G= (n.7256+55G=) n.623+55G= n.331+55G= c.6989+55G= (n.6989+55G=) c.7250+55G= (n.7250+55G=) c.7262+55G= (n.7262+55G=) c.5387+55G= (n.5387+55G=) | |
| 6 | g.129460379G>T | CA818841817 | LAMA2 | c.6992+55G>T (n.6992+55G>T) c.7256+55G>T (n.7256+55G>T) n.623+55G>T n.331+55G>T c.6989+55G>T (n.6989+55G>T) c.7250+55G>T (n.7250+55G>T) c.7262+55G>T (n.7262+55G>T) c.5387+55G>T (n.5387+55G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129460380A= | CA1663188524 | LAMA2 | c.6992+56A= (n.6992+56A=) c.7256+56A= (n.7256+56A=) n.623+56A= n.331+56A= c.6989+56A= (n.6989+56A=) c.7250+56A= (n.7250+56A=) c.7262+56A= (n.7262+56A=) c.5387+56A= (n.5387+56A=) | |
| 6 | g.129460380A>C | CA2581627917 | LAMA2 | c.6992+56A>C (n.6992+56A>C) c.7256+56A>C (n.7256+56A>C) n.623+56A>C n.331+56A>C c.6989+56A>C (n.6989+56A>C) c.7250+56A>C (n.7250+56A>C) c.7262+56A>C (n.7262+56A>C) c.5387+56A>C (n.5387+56A>C) | |
| 6 | g.129460380A>G | CA2581627918 | LAMA2 | c.6992+56A>G (n.6992+56A>G) c.7256+56A>G (n.7256+56A>G) n.623+56A>G n.331+56A>G c.6989+56A>G (n.6989+56A>G) c.7250+56A>G (n.7250+56A>G) c.7262+56A>G (n.7262+56A>G) c.5387+56A>G (n.5387+56A>G) | |
| 6 | g.129460380A>T | CA146888690 | LAMA2 | c.6992+56A>T (n.6992+56A>T) c.7256+56A>T (n.7256+56A>T) n.623+56A>T n.331+56A>T c.6989+56A>T (n.6989+56A>T) c.7250+56A>T (n.7250+56A>T) c.7262+56A>T (n.7262+56A>T) c.5387+56A>T (n.5387+56A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129460381T>C | CA2680307105 | LAMA2 | c.6992+57T>C (n.6992+57T>C) c.7256+57T>C (n.7256+57T>C) n.623+57T>C n.331+57T>C c.6989+57T>C (n.6989+57T>C) c.7250+57T>C (n.7250+57T>C) c.7262+57T>C (n.7262+57T>C) c.5387+57T>C (n.5387+57T>C) | gnomAD v4 |
| 6 | g.129460384del | CA2680307104 | LAMA2 | c.6992+60del (n.6992+60del) c.7256+60del (n.7256+60del) n.623+60del n.331+60del c.6989+60del (n.6989+60del) c.7250+60del (n.7250+60del) c.7262+60del (n.7262+60del) c.5387+60del (n.5387+60del) | gnomAD v4 |
| 6 | g.129460382T>G | CA2680307106 | LAMA2 | c.6992+58T>G (n.6992+58T>G) c.7256+58T>G (n.7256+58T>G) n.623+58T>G n.331+58T>G c.6989+58T>G (n.6989+58T>G) c.7250+58T>G (n.7250+58T>G) c.7262+58T>G (n.7262+58T>G) c.5387+58T>G (n.5387+58T>G) | gnomAD v4 |
| 6 | g.129460385A= | CA1663188527 | LAMA2 | c.6992+61A= (n.6992+61A=) c.7256+61A= (n.7256+61A=) n.623+61A= n.331+61A= c.6989+61A= (n.6989+61A=) c.7250+61A= (n.7250+61A=) c.7262+61A= (n.7262+61A=) c.5387+61A= (n.5387+61A=) | |
| 6 | g.129460385A>G | CA146888726 | LAMA2 | c.6992+61A>G (n.6992+61A>G) c.7256+61A>G (n.7256+61A>G) n.623+61A>G n.331+61A>G c.6989+61A>G (n.6989+61A>G) c.7250+61A>G (n.7250+61A>G) c.7262+61A>G (n.7262+61A>G) c.5387+61A>G (n.5387+61A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129460385A>T | CA2680307107 | LAMA2 | c.6992+61A>T (n.6992+61A>T) c.7256+61A>T (n.7256+61A>T) n.623+61A>T n.331+61A>T c.6989+61A>T (n.6989+61A>T) c.7250+61A>T (n.7250+61A>T) c.7262+61A>T (n.7262+61A>T) c.5387+61A>T (n.5387+61A>T) | gnomAD v4 |