| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129297722T>A | CA365610981 | LAMA2 | c.2894T>A (p.Val965Asp) c.3158T>A (p.Val1053Asp) c.409T>A c.3164T>A (p.Val1055Asp) c.1289T>A (p.Val430Asp) | |
| 6 | g.129297722T>C | CA3993105 | LAMA2 | c.2894T>C (p.Val965Ala) c.3158T>C (p.Val1053Ala) c.409T>C c.3164T>C (p.Val1055Ala) c.1289T>C (p.Val430Ala) | dbSNP ExAC gnomAD v2 COSMIC |
| 6 | g.129297722T>G | CA365610982 | LAMA2 | c.2894T>G (p.Val965Gly) c.3158T>G (p.Val1053Gly) c.409T>G c.3164T>G (p.Val1055Gly) c.1289T>G (p.Val430Gly) | |
| 6 | g.129297722T= | CA1663102370 | LAMA2 | c.2894T= (p.Val965=) c.3158T= (p.Val1053=) c.409T= c.3164T= (p.Val1055=) c.1289T= (p.Val430=) | |
| 6 | g.129297723T>A | CA451936120 | LAMA2 | c.2895T>A (p.Val965=) c.3159T>A (p.Val1053=) c.410T>A c.3165T>A (p.Val1055=) c.1290T>A (p.Val430=) | |
| 6 | g.129297723T>C | CA451936121 | LAMA2 | c.2895T>C (p.Val965=) c.3159T>C (p.Val1053=) c.410T>C c.3165T>C (p.Val1055=) c.1290T>C (p.Val430=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129297723T>G | CA451936122 | LAMA2 | c.2895T>G (p.Val965=) c.3159T>G (p.Val1053=) c.410T>G c.3165T>G (p.Val1055=) c.1290T>G (p.Val430=) | |
| 6 | g.129297723T= | CA1663102372 | LAMA2 | c.2895T= (p.Val965=) c.3159T= (p.Val1053=) c.410T= c.3165T= (p.Val1055=) c.1290T= (p.Val430=) | |
| 6 | g.129297724C>A | CA365610983 | LAMA2 | c.2896C>A (p.Pro966Thr) c.3160C>A (p.Pro1054Thr) c.411C>A c.3166C>A (p.Pro1056Thr) c.1291C>A (p.Pro431Thr) | |
| 6 | g.129297724C>G | CA365610984 | LAMA2 | c.2896C>G (p.Pro966Ala) c.3160C>G (p.Pro1054Ala) c.411C>G c.3166C>G (p.Pro1056Ala) c.1291C>G (p.Pro431Ala) | gnomAD v4 |
| 6 | g.129297724C>T | CA365610985 | LAMA2 | c.2896C>T (p.Pro966Ser) c.3160C>T (p.Pro1054Ser) c.411C>T c.3166C>T (p.Pro1056Ser) c.1291C>T (p.Pro431Ser) | gnomAD v4 COSMIC |
| 6 | g.129297725C>A | CA365610986 | LAMA2 | c.2897C>A (p.Pro966His) c.3161C>A (p.Pro1054His) c.412C>A c.3167C>A (p.Pro1056His) c.1292C>A (p.Pro431His) | |
| 6 | g.129297725C= | CA1663102375 | LAMA2 | c.2897C= (p.Pro966=) c.3161C= (p.Pro1054=) c.412C= c.3167C= (p.Pro1056=) c.1292C= (p.Pro431=) | |
| 6 | g.129297725C>G | CA365610987 | LAMA2 | c.2897C>G (p.Pro966Arg) c.3161C>G (p.Pro1054Arg) c.412C>G c.3167C>G (p.Pro1056Arg) c.1292C>G (p.Pro431Arg) | |
| 6 | g.129297725C>T | CA3993106 | LAMA2 | c.2897C>T (p.Pro966Leu) c.3161C>T (p.Pro1054Leu) c.412C>T c.3167C>T (p.Pro1056Leu) c.1292C>T (p.Pro431Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129297726C>A | CA451936123 | LAMA2 | c.2898C>A (p.Pro966=) c.3162C>A (p.Pro1054=) c.413C>A c.3168C>A (p.Pro1056=) c.1293C>A (p.Pro431=) | |
| 6 | g.129297726C>G | CA451936125 | LAMA2 | c.2898C>G (p.Pro966=) c.3162C>G (p.Pro1054=) c.413C>G c.3168C>G (p.Pro1056=) c.1293C>G (p.Pro431=) | |
| 6 | g.129297726C>T | CA451936124 | LAMA2 | c.2898C>T (p.Pro966=) c.3162C>T (p.Pro1054=) c.413C>T c.3168C>T (p.Pro1056=) c.1293C>T (p.Pro431=) | |
| 6 | g.129297727T>A | CA365610990 | LAMA2 | c.2899T>A (p.Cys967Ser) c.3163T>A (p.Cys1055Ser) c.414T>A c.3169T>A (p.Cys1057Ser) c.1294T>A (p.Cys432Ser) | |
| 6 | g.129297727T>C | CA365610988 | LAMA2 | c.2899T>C (p.Cys967Arg) c.3163T>C (p.Cys1055Arg) c.414T>C c.3169T>C (p.Cys1057Arg) c.1294T>C (p.Cys432Arg) | |
| 6 | g.129297727T>G | CA365610989 | LAMA2 | c.2899T>G (p.Cys967Gly) c.3163T>G (p.Cys1055Gly) c.414T>G c.3169T>G (p.Cys1057Gly) c.1294T>G (p.Cys432Gly) | |
| 6 | g.129297728G>A | CA365610991 | LAMA2 | c.2900G>A (p.Cys967Tyr) c.3164G>A (p.Cys1055Tyr) c.415G>A c.3170G>A (p.Cys1057Tyr) c.1295G>A (p.Cys432Tyr) | |
| 6 | g.129297728G>C | CA365610992 | LAMA2 | c.2900G>C (p.Cys967Ser) c.3164G>C (p.Cys1055Ser) c.415G>C c.3170G>C (p.Cys1057Ser) c.1295G>C (p.Cys432Ser) | gnomAD v4 |
| 6 | g.129297728G= | CA1663102377 | LAMA2 | c.2900G= (p.Cys967=) c.3164G= (p.Cys1055=) c.415G= c.3170G= (p.Cys1057=) c.1295G= (p.Cys432=) | |
| 6 | g.129297728G>T | CA365610993 | LAMA2 | c.2900G>T (p.Cys967Phe) c.3164G>T (p.Cys1055Phe) c.415G>T c.3170G>T (p.Cys1057Phe) c.1295G>T (p.Cys432Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129297729C>A | CA341325 | LAMA2 | c.2901C>A (p.Cys967Ter) c.3165C>A (p.Cys1055Ter) c.416C>A c.3171C>A (p.Cys1057Ter) c.1296C>A (p.Cys432Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129297729C= | CA1663102380 | LAMA2 | c.2901C= (p.Cys967=) c.3165C= (p.Cys1055=) c.416C= c.3171C= (p.Cys1057=) c.1296C= (p.Cys432=) | |
| 6 | g.129297729C>G | CA365610994 | LAMA2 | c.2901C>G (p.Cys967Trp) c.3165C>G (p.Cys1055Trp) c.416C>G c.3171C>G (p.Cys1057Trp) c.1296C>G (p.Cys432Trp) | |
| 6 | g.129297729C>T | CA451936126 | LAMA2 | c.2901C>T (p.Cys967=) c.3165C>T (p.Cys1055=) c.416C>T c.3171C>T (p.Cys1057=) c.1296C>T (p.Cys432=) | |
| 6 | g.129297730A>C | CA365610995 | LAMA2 | c.2902A>C (p.Asn968His) c.3166A>C (p.Asn1056His) c.417A>C c.3172A>C (p.Asn1058His) c.1297A>C (p.Asn433His) | |
| 6 | g.129297730A>G | CA365610996 | LAMA2 | c.2902A>G (p.Asn968Asp) c.3166A>G (p.Asn1056Asp) c.417A>G c.3172A>G (p.Asn1058Asp) c.1297A>G (p.Asn433Asp) | |
| 6 | g.129297730A>T | CA365610997 | LAMA2 | c.2902A>T (p.Asn968Tyr) c.3166A>T (p.Asn1056Tyr) c.417A>T c.3172A>T (p.Asn1058Tyr) c.1297A>T (p.Asn433Tyr) | |
| 6 | g.129297731dup | CA2680313389 | LAMA2 | c.2903dup (p.Asn968LysfsTer8) c.3167dup (p.Asn1056LysfsTer8) c.418dup c.3173dup (p.Asn1058LysfsTer8) c.1298dup (p.Asn433LysfsTer8) | gnomAD v4 |
| 6 | g.129297731A>C | CA365610998 | LAMA2 | c.2903A>C (p.Asn968Thr) c.3167A>C (p.Asn1056Thr) c.418A>C c.3173A>C (p.Asn1058Thr) c.1298A>C (p.Asn433Thr) | gnomAD v4 |
| 6 | g.129297731A>G | CA365610999 | LAMA2 | c.2903A>G (p.Asn968Ser) c.3167A>G (p.Asn1056Ser) c.418A>G c.3173A>G (p.Asn1058Ser) c.1298A>G (p.Asn433Ser) | |
| 6 | g.129297731A>T | CA365611000 | LAMA2 | c.2903A>T (p.Asn968Ile) c.3167A>T (p.Asn1056Ile) c.418A>T c.3173A>T (p.Asn1058Ile) c.1298A>T (p.Asn433Ile) | |
| 6 | g.129297732C>A | CA365611001 | LAMA2 | c.2904C>A (p.Asn968Lys) c.3168C>A (p.Asn1056Lys) c.419C>A c.3174C>A (p.Asn1058Lys) c.1299C>A (p.Asn433Lys) | gnomAD v4 |
| 6 | g.129297732C>G | CA365611002 | LAMA2 | c.2904C>G (p.Asn968Lys) c.3168C>G (p.Asn1056Lys) c.419C>G c.3174C>G (p.Asn1058Lys) c.1299C>G (p.Asn433Lys) | |
| 6 | g.129297732C>T | CA451936127 | LAMA2 | c.2904C>T (p.Asn968=) c.3168C>T (p.Asn1056=) c.419C>T c.3174C>T (p.Asn1058=) c.1299C>T (p.Asn433=) | |
| 6 | g.129297733T>A | CA3993107 | LAMA2 | c.2905T>A (p.Cys969Ser) c.3169T>A (p.Cys1057Ser) c.420T>A c.3175T>A (p.Cys1059Ser) c.1300T>A (p.Cys434Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129297733T>C | CA365611003 | LAMA2 | c.2905T>C (p.Cys969Arg) c.3169T>C (p.Cys1057Arg) c.420T>C c.3175T>C (p.Cys1059Arg) c.1300T>C (p.Cys434Arg) | |
| 6 | g.129297733T>G | CA146900580 | LAMA2 | c.2905T>G (p.Cys969Gly) c.3169T>G (p.Cys1057Gly) c.420T>G c.3175T>G (p.Cys1059Gly) c.1300T>G (p.Cys434Gly) | dbSNP |
| 6 | g.129297733T= | CA1663102383 | LAMA2 | c.2905T= (p.Cys969=) c.3169T= (p.Cys1057=) c.420T= c.3175T= (p.Cys1059=) c.1300T= (p.Cys434=) | |
| 6 | g.129297734G>A | CA365611004 | LAMA2 | c.2906G>A (p.Cys969Tyr) c.3170G>A (p.Cys1057Tyr) c.421G>A c.3176G>A (p.Cys1059Tyr) c.1301G>A (p.Cys434Tyr) | ClinVar dbSNP |
| 6 | g.129297734G>C | CA365611005 | LAMA2 | c.2906G>C (p.Cys969Ser) c.3170G>C (p.Cys1057Ser) c.421G>C c.3176G>C (p.Cys1059Ser) c.1301G>C (p.Cys434Ser) | |
| 6 | g.129297734G>T | CA365611006 | LAMA2 | c.2906G>T (p.Cys969Phe) c.3170G>T (p.Cys1057Phe) c.421G>T c.3176G>T (p.Cys1059Phe) c.1301G>T (p.Cys434Phe) | |
| 6 | g.129297735C>A | CA365611007 | LAMA2 | c.2907C>A (p.Cys969Ter) c.3171C>A (p.Cys1057Ter) c.422C>A c.3177C>A (p.Cys1059Ter) c.1302C>A (p.Cys434Ter) | ClinVar dbSNP |
| 6 | g.129297735C= | CA1663102393 | LAMA2 | c.2907C= (p.Cys969=) c.3171C= (p.Cys1057=) c.422C= c.3177C= (p.Cys1059=) c.1302C= (p.Cys434=) | |
| 6 | g.129297735C>G | CA365611008 | LAMA2 | c.2907C>G (p.Cys969Trp) c.3171C>G (p.Cys1057Trp) c.422C>G c.3177C>G (p.Cys1059Trp) c.1302C>G (p.Cys434Trp) | |
| 6 | g.129297735C>T | CA451936128 | LAMA2 | c.2907C>T (p.Cys969=) c.3171C>T (p.Cys1057=) c.422C>T c.3177C>T (p.Cys1059=) c.1302C>T (p.Cys434=) | |
| 6 | g.129297736A>C | CA365611009 | LAMA2 | c.2908A>C (p.Asn970His) c.3172A>C (p.Asn1058His) c.423A>C c.3178A>C (p.Asn1060His) c.1303A>C (p.Asn435His) | |
| 6 | g.129297736A>G | CA365611010 | LAMA2 | c.2908A>G (p.Asn970Asp) c.3172A>G (p.Asn1058Asp) c.423A>G c.3178A>G (p.Asn1060Asp) c.1303A>G (p.Asn435Asp) | |
| 6 | g.129297736A>T | CA365611011 | LAMA2 | c.2908A>T (p.Asn970Tyr) c.3172A>T (p.Asn1058Tyr) c.423A>T c.3178A>T (p.Asn1060Tyr) c.1303A>T (p.Asn435Tyr) | |
| 6 | g.129297737A= | CA1663102396 | LAMA2 | c.2909A= (p.Asn970=) c.3173A= (p.Asn1058=) c.424A= c.3179A= (p.Asn1060=) c.1304A= (p.Asn435=) | |
| 6 | g.129297737A>C | CA365611012 | LAMA2 | c.2909A>C (p.Asn970Thr) c.3173A>C (p.Asn1058Thr) c.424A>C c.3179A>C (p.Asn1060Thr) c.1304A>C (p.Asn435Thr) | |
| 6 | g.129297737A>G | CA365611013 | LAMA2 | c.2909A>G (p.Asn970Ser) c.3173A>G (p.Asn1058Ser) c.424A>G c.3179A>G (p.Asn1060Ser) c.1304A>G (p.Asn435Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129297737A>T | CA146900582 | LAMA2 | c.2909A>T (p.Asn970Ile) c.3173A>T (p.Asn1058Ile) c.424A>T c.3179A>T (p.Asn1060Ile) c.1304A>T (p.Asn435Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129297738T>A | CA365611014 | LAMA2 | c.2910T>A (p.Asn970Lys) c.3174T>A (p.Asn1058Lys) c.425T>A c.3180T>A (p.Asn1060Lys) c.1305T>A (p.Asn435Lys) | dbSNP gnomAD v4 |
| 6 | g.129297738T>C | CA451936129 | LAMA2 | c.2910T>C (p.Asn970=) c.3174T>C (p.Asn1058=) c.425T>C c.3180T>C (p.Asn1060=) c.1305T>C (p.Asn435=) | |
| 6 | g.129297738T>G | CA365611015 | LAMA2 | c.2910T>G (p.Asn970Lys) c.3174T>G (p.Asn1058Lys) c.425T>G c.3180T>G (p.Asn1060Lys) c.1305T>G (p.Asn435Lys) | |
| 6 | g.129297738T= | CA1663102401 | LAMA2 | c.2910T= (p.Asn970=) c.3174T= (p.Asn1058=) c.425T= c.3180T= (p.Asn1060=) c.1305T= (p.Asn435=) | |
| 6 | g.129297739T>A | CA365611017 | LAMA2 | c.2911T>A (p.Ser971Thr) c.3175T>A (p.Ser1059Thr) c.426T>A c.3181T>A (p.Ser1061Thr) c.1306T>A (p.Ser436Thr) | |
| 6 | g.129297739T>C | CA365611018 | LAMA2 | c.2911T>C (p.Ser971Pro) c.3175T>C (p.Ser1059Pro) c.426T>C c.3181T>C (p.Ser1061Pro) c.1306T>C (p.Ser436Pro) | |
| 6 | g.129297739T>G | CA365611016 | LAMA2 | c.2911T>G (p.Ser971Ala) c.3175T>G (p.Ser1059Ala) c.426T>G c.3181T>G (p.Ser1061Ala) c.1306T>G (p.Ser436Ala) | |
| 6 | g.129297740C>A | CA3993109 | LAMA2 | c.2912C>A (p.Ser971Tyr) c.3176C>A (p.Ser1059Tyr) c.427C>A c.3182C>A (p.Ser1061Tyr) c.1307C>A (p.Ser436Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.129297740C= | CA1663102406 | LAMA2 | c.2912C= (p.Ser971=) c.3176C= (p.Ser1059=) c.427C= c.3182C= (p.Ser1061=) c.1307C= (p.Ser436=) | |
| 6 | g.129297740C>G | CA3993108 | LAMA2 | c.2912C>G (p.Ser971Cys) c.3176C>G (p.Ser1059Cys) c.427C>G c.3182C>G (p.Ser1061Cys) c.1307C>G (p.Ser436Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.129297740C>T | CA365611019 | LAMA2 | c.2912C>T (p.Ser971Phe) c.3176C>T (p.Ser1059Phe) c.427C>T c.3182C>T (p.Ser1061Phe) c.1307C>T (p.Ser436Phe) | ClinVar dbSNP |
| 6 | g.129297741T>A | CA451936130 | LAMA2 | c.2913T>A (p.Ser971=) c.3177T>A (p.Ser1059=) c.428T>A c.3183T>A (p.Ser1061=) c.1308T>A (p.Ser436=) | |
| 6 | g.129297741T>C | CA451936131 | LAMA2 | c.2913T>C (p.Ser971=) c.3177T>C (p.Ser1059=) c.428T>C c.3183T>C (p.Ser1061=) c.1308T>C (p.Ser436=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129297741T>G | CA451936132 | LAMA2 | c.2913T>G (p.Ser971=) c.3177T>G (p.Ser1059=) c.428T>G c.3183T>G (p.Ser1061=) c.1308T>G (p.Ser436=) | |
| 6 | g.129297741T= | CA1663102410 | LAMA2 | c.2913T= (p.Ser971=) c.3177T= (p.Ser1059=) c.428T= c.3183T= (p.Ser1061=) c.1308T= (p.Ser436=) | |
| 6 | g.129297744del | CA2580074945 | LAMA2 | c.2916del (p.Phe972LeufsTer?) c.3180del (p.Phe1060LeufsTer?) c.431del c.3186del (p.Phe1062LeufsTer?) c.1311del (p.Phe437LeufsTer?) | ClinVar |
| 6 | g.129297742T>A | CA365611020 | LAMA2 | c.2914T>A (p.Phe972Ile) c.3178T>A (p.Phe1060Ile) c.429T>A c.3184T>A (p.Phe1062Ile) c.1309T>A (p.Phe437Ile) | |
| 6 | g.129297742T>C | CA365611021 | LAMA2 | c.2914T>C (p.Phe972Leu) c.3178T>C (p.Phe1060Leu) c.429T>C c.3184T>C (p.Phe1062Leu) c.1309T>C (p.Phe437Leu) | |
| 6 | g.129297742T>G | CA365611022 | LAMA2 | c.2914T>G (p.Phe972Val) c.3178T>G (p.Phe1060Val) c.429T>G c.3184T>G (p.Phe1062Val) c.1309T>G (p.Phe437Val) | |
| 6 | g.129297743T>A | CA365611023 | LAMA2 | c.2915T>A (p.Phe972Tyr) c.3179T>A (p.Phe1060Tyr) c.430T>A c.3185T>A (p.Phe1062Tyr) c.1310T>A (p.Phe437Tyr) | |
| 6 | g.129297743T>C | CA365611024 | LAMA2 | c.2915T>C (p.Phe972Ser) c.3179T>C (p.Phe1060Ser) c.430T>C c.3185T>C (p.Phe1062Ser) c.1310T>C (p.Phe437Ser) | gnomAD v4 |
| 6 | g.129297743T>G | CA365611025 | LAMA2 | c.2915T>G (p.Phe972Cys) c.3179T>G (p.Phe1060Cys) c.430T>G c.3185T>G (p.Phe1062Cys) c.1310T>G (p.Phe437Cys) | |
| 6 | g.129297744T>A | CA365611026 | LAMA2 | c.2916T>A (p.Phe972Leu) c.3180T>A (p.Phe1060Leu) c.431T>A c.3186T>A (p.Phe1062Leu) c.1311T>A (p.Phe437Leu) | |
| 6 | g.129297744T>C | CA451936133 | LAMA2 | c.2916T>C (p.Phe972=) c.3180T>C (p.Phe1060=) c.431T>C c.3186T>C (p.Phe1062=) c.1311T>C (p.Phe437=) | gnomAD v4 |
| 6 | g.129297744T>G | CA3993110 | LAMA2 | c.2916T>G (p.Phe972Leu) c.3180T>G (p.Phe1060Leu) c.431T>G c.3186T>G (p.Phe1062Leu) c.1311T>G (p.Phe437Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129297744T= | CA1663102413 | LAMA2 | c.2916T= (p.Phe972=) c.3180T= (p.Phe1060=) c.431T= c.3186T= (p.Phe1062=) c.1311T= (p.Phe437=) | |
| 6 | g.129297746_129297764del | CA2740091475 | LAMA2 | c.2918_2936del (p.Gly973ValfsTer?) c.3182_3200del (p.Gly1061ValfsTer?) c.433_451del c.3188_3206del (p.Gly1063ValfsTer?) c.1313_1331del (p.Gly438ValfsTer?) | ClinVar |
| 6 | g.129297745G>A | CA365611027 | LAMA2 | c.2917G>A (p.Gly973Arg) c.3181G>A (p.Gly1061Arg) c.432G>A c.3187G>A (p.Gly1063Arg) c.1312G>A (p.Gly438Arg) | |
| 6 | g.129297745G>C | CA365611028 | LAMA2 | c.2917G>C (p.Gly973Arg) c.3181G>C (p.Gly1061Arg) c.432G>C c.3187G>C (p.Gly1063Arg) c.1312G>C (p.Gly438Arg) | |
| 6 | g.129297745G>T | CA365611029 | LAMA2 | c.2917G>T (p.Gly973Trp) c.3181G>T (p.Gly1061Trp) c.432G>T c.3187G>T (p.Gly1063Trp) c.1312G>T (p.Gly438Trp) | |
| 6 | g.129297746G>A | CA365611032 | LAMA2 | c.2918G>A (p.Gly973Glu) c.3182G>A (p.Gly1061Glu) c.433G>A c.3188G>A (p.Gly1063Glu) c.1313G>A (p.Gly438Glu) | |
| 6 | g.129297746G>C | CA365611031 | LAMA2 | c.2918G>C (p.Gly973Ala) c.3182G>C (p.Gly1061Ala) c.433G>C c.3188G>C (p.Gly1063Ala) c.1313G>C (p.Gly438Ala) | dbSNP gnomAD v4 |
| 6 | g.129297746G= | CA1663102420 | LAMA2 | c.2918G= (p.Gly973=) c.3182G= (p.Gly1061=) c.433G= c.3188G= (p.Gly1063=) c.1313G= (p.Gly438=) | |
| 6 | g.129297746G>T | CA365611030 | LAMA2 | c.2918G>T (p.Gly973Val) c.3182G>T (p.Gly1061Val) c.433G>T c.3188G>T (p.Gly1063Val) c.1313G>T (p.Gly438Val) | |
| 6 | g.129297747G>A | CA451936134 | LAMA2 | c.2919G>A (p.Gly973=) c.3183G>A (p.Gly1061=) c.434G>A c.3189G>A (p.Gly1063=) c.1314G>A (p.Gly438=) | |
| 6 | g.129297747G>C | CA451936135 | LAMA2 | c.2919G>C (p.Gly973=) c.3183G>C (p.Gly1061=) c.434G>C c.3189G>C (p.Gly1063=) c.1314G>C (p.Gly438=) | |
| 6 | g.129297747G>T | CA451936136 | LAMA2 | c.2919G>T (p.Gly973=) c.3183G>T (p.Gly1061=) c.434G>T c.3189G>T (p.Gly1063=) c.1314G>T (p.Gly438=) | |
| 6 | g.129297748T>A | CA365611033 | LAMA2 | c.2920T>A (p.Ser974Thr) c.3184T>A (p.Ser1062Thr) c.435T>A c.3190T>A (p.Ser1064Thr) c.1315T>A (p.Ser439Thr) | |
| 6 | g.129297748T>C | CA365611034 | LAMA2 | c.2920T>C (p.Ser974Pro) c.3184T>C (p.Ser1062Pro) c.435T>C c.3190T>C (p.Ser1064Pro) c.1315T>C (p.Ser439Pro) | gnomAD v4 |
| 6 | g.129297748T>G | CA365611035 | LAMA2 | c.2920T>G (p.Ser974Ala) c.3184T>G (p.Ser1062Ala) c.435T>G c.3190T>G (p.Ser1064Ala) c.1315T>G (p.Ser439Ala) | |
| 6 | g.129297749C>A | CA365611036 | LAMA2 | c.2921C>A (p.Ser974Tyr) c.3185C>A (p.Ser1062Tyr) c.436C>A c.3191C>A (p.Ser1064Tyr) c.1316C>A (p.Ser439Tyr) | COSMIC |
| 6 | g.129297749C>G | CA365611037 | LAMA2 | c.2921C>G (p.Ser974Cys) c.3185C>G (p.Ser1062Cys) c.436C>G c.3191C>G (p.Ser1064Cys) c.1316C>G (p.Ser439Cys) | |
| 6 | g.129297749C>T | CA365611038 | LAMA2 | c.2921C>T (p.Ser974Phe) c.3185C>T (p.Ser1062Phe) c.436C>T c.3191C>T (p.Ser1064Phe) c.1316C>T (p.Ser439Phe) | ClinVar COSMIC |
| 6 | g.129297750T>A | CA451936137 | LAMA2 | c.2922T>A (p.Ser974=) c.3186T>A (p.Ser1062=) c.437T>A c.3192T>A (p.Ser1064=) c.1317T>A (p.Ser439=) | |
| 6 | g.129297750T>C | CA451936138 | LAMA2 | c.2922T>C (p.Ser974=) c.3186T>C (p.Ser1062=) c.437T>C c.3192T>C (p.Ser1064=) c.1317T>C (p.Ser439=) | |
| 6 | g.129297750T>G | CA451936139 | LAMA2 | c.2922T>G (p.Ser974=) c.3186T>G (p.Ser1062=) c.437T>G c.3192T>G (p.Ser1064=) c.1317T>G (p.Ser439=) | |
| 6 | g.129297751A>C | CA365611039 | LAMA2 | c.2923A>C (p.Lys975Gln) c.3187A>C (p.Lys1063Gln) c.438A>C c.3193A>C (p.Lys1065Gln) c.1318A>C (p.Lys440Gln) | |
| 6 | g.129297751A>G | CA365611040 | LAMA2 | c.2923A>G (p.Lys975Glu) c.3187A>G (p.Lys1063Glu) c.438A>G c.3193A>G (p.Lys1065Glu) c.1318A>G (p.Lys440Glu) | |
| 6 | g.129297751A>T | CA365611041 | LAMA2 | c.2923A>T (p.Lys975Ter) c.3187A>T (p.Lys1063Ter) c.438A>T c.3193A>T (p.Lys1065Ter) c.1318A>T (p.Lys440Ter) | |
| 6 | g.129297752A= | CA1663102426 | LAMA2 | c.2924A= (p.Lys975=) c.3188A= (p.Lys1063=) c.439A= c.3194A= (p.Lys1065=) c.1319A= (p.Lys440=) | |
| 6 | g.129297752A>C | CA365611042 | LAMA2 | c.2924A>C (p.Lys975Thr) c.3188A>C (p.Lys1063Thr) c.439A>C c.3194A>C (p.Lys1065Thr) c.1319A>C (p.Lys440Thr) | |
| 6 | g.129297752A>G | CA365611043 | LAMA2 | c.2924A>G (p.Lys975Arg) c.3188A>G (p.Lys1063Arg) c.439A>G c.3194A>G (p.Lys1065Arg) c.1319A>G (p.Lys440Arg) | dbSNP gnomAD v4 |
| 6 | g.129297752A>T | CA365611044 | LAMA2 | c.2924A>T (p.Lys975Met) c.3188A>T (p.Lys1063Met) c.439A>T c.3194A>T (p.Lys1065Met) c.1319A>T (p.Lys440Met) | |
| 6 | g.129297753G>A | CA451936140 | LAMA2 | c.2925G>A (p.Lys975=) c.3189G>A (p.Lys1063=) c.440G>A c.3195G>A (p.Lys1065=) c.1320G>A (p.Lys440=) | |
| 6 | g.129297753G>C | CA365611046 | LAMA2 | c.2925G>C (p.Lys975Asn) c.3189G>C (p.Lys1063Asn) c.440G>C c.3195G>C (p.Lys1065Asn) c.1320G>C (p.Lys440Asn) | |
| 6 | g.129297753G>T | CA365611045 | LAMA2 | c.2925G>T (p.Lys975Asn) c.3189G>T (p.Lys1063Asn) c.440G>T c.3195G>T (p.Lys1065Asn) c.1320G>T (p.Lys440Asn) | |
| 6 | g.129297754T>A | CA365611047 | LAMA2 | c.2926T>A (p.Ser976Thr) c.3190T>A (p.Ser1064Thr) c.441T>A c.3196T>A (p.Ser1066Thr) c.1321T>A (p.Ser441Thr) | |
| 6 | g.129297754T>C | CA365611048 | LAMA2 | c.2926T>C (p.Ser976Pro) c.3190T>C (p.Ser1064Pro) c.441T>C c.3196T>C (p.Ser1066Pro) c.1321T>C (p.Ser441Pro) | |
| 6 | g.129297754T>G | CA365611049 | LAMA2 | c.2926T>G (p.Ser976Ala) c.3190T>G (p.Ser1064Ala) c.441T>G c.3196T>G (p.Ser1066Ala) c.1321T>G (p.Ser441Ala) | |
| 6 | g.129297755C>A | CA365611050 | LAMA2 | c.2927C>A (p.Ser976Ter) c.3191C>A (p.Ser1064Ter) c.442C>A c.3197C>A (p.Ser1066Ter) c.1322C>A (p.Ser441Ter) | COSMIC |
| 6 | g.129297755C>G | CA365611051 | LAMA2 | c.2927C>G (p.Ser976Ter) c.3191C>G (p.Ser1064Ter) c.442C>G c.3197C>G (p.Ser1066Ter) c.1322C>G (p.Ser441Ter) | |
| 6 | g.129297755C>T | CA365611052 | LAMA2 | c.2927C>T (p.Ser976Leu) c.3191C>T (p.Ser1064Leu) c.442C>T c.3197C>T (p.Ser1066Leu) c.1322C>T (p.Ser441Leu) | |
| 6 | g.129297756A>C | CA451936141 | LAMA2 | c.2928A>C (p.Ser976=) c.3192A>C (p.Ser1064=) c.443A>C c.3198A>C (p.Ser1066=) c.1323A>C (p.Ser441=) | |
| 6 | g.129297756A>G | CA451936143 | LAMA2 | c.2928A>G (p.Ser976=) c.3192A>G (p.Ser1064=) c.443A>G c.3198A>G (p.Ser1066=) c.1323A>G (p.Ser441=) | |
| 6 | g.129297756A>T | CA451936142 | LAMA2 | c.2928A>T (p.Ser976=) c.3192A>T (p.Ser1064=) c.443A>T c.3198A>T (p.Ser1066=) c.1323A>T (p.Ser441=) | |
| 6 | g.129297757T>A | CA365611053 | LAMA2 | c.2929T>A (p.Phe977Ile) c.3193T>A (p.Phe1065Ile) c.444T>A c.3199T>A (p.Phe1067Ile) c.1324T>A (p.Phe442Ile) | |
| 6 | g.129297757T>C | CA365611054 | LAMA2 | c.2929T>C (p.Phe977Leu) c.3193T>C (p.Phe1065Leu) c.444T>C c.3199T>C (p.Phe1067Leu) c.1324T>C (p.Phe442Leu) | gnomAD v4 |
| 6 | g.129297757T>G | CA365611055 | LAMA2 | c.2929T>G (p.Phe977Val) c.3193T>G (p.Phe1065Val) c.444T>G c.3199T>G (p.Phe1067Val) c.1324T>G (p.Phe442Val) | |
| 6 | g.129297758T>A | CA365611056 | LAMA2 | c.2930T>A (p.Phe977Tyr) c.3194T>A (p.Phe1065Tyr) c.445T>A c.3200T>A (p.Phe1067Tyr) c.1325T>A (p.Phe442Tyr) | |
| 6 | g.129297758T>C | CA365611057 | LAMA2 | c.2930T>C (p.Phe977Ser) c.3194T>C (p.Phe1065Ser) c.445T>C c.3200T>C (p.Phe1067Ser) c.1325T>C (p.Phe442Ser) | gnomAD v4 |
| 6 | g.129297758T>G | CA365611058 | LAMA2 | c.2930T>G (p.Phe977Cys) c.3194T>G (p.Phe1065Cys) c.445T>G c.3200T>G (p.Phe1067Cys) c.1325T>G (p.Phe442Cys) | |
| 6 | g.129297759C>A | CA365611059 | LAMA2 | c.2931C>A (p.Phe977Leu) c.3195C>A (p.Phe1065Leu) c.446C>A c.3201C>A (p.Phe1067Leu) c.1326C>A (p.Phe442Leu) | |
| 6 | g.129297759C= | CA1663102429 | LAMA2 | c.2931C= (p.Phe977=) c.3195C= (p.Phe1065=) c.446C= c.3201C= (p.Phe1067=) c.1326C= (p.Phe442=) | |
| 6 | g.129297759C>G | CA365611060 | LAMA2 | c.2931C>G (p.Phe977Leu) c.3195C>G (p.Phe1065Leu) c.446C>G c.3201C>G (p.Phe1067Leu) c.1326C>G (p.Phe442Leu) | |
| 6 | g.129297759C>T | CA3993111 | LAMA2 | c.2931C>T (p.Phe977=) c.3195C>T (p.Phe1065=) c.446C>T c.3201C>T (p.Phe1067=) c.1326C>T (p.Phe442=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.129297760G>A | CA3993112 | LAMA2 | c.2932G>A (p.Asp978Asn) c.3196G>A (p.Asp1066Asn) c.447G>A c.3202G>A (p.Asp1068Asn) c.1327G>A (p.Asp443Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129297760G>C | CA365611061 | LAMA2 | c.2932G>C (p.Asp978His) c.3196G>C (p.Asp1066His) c.447G>C c.3202G>C (p.Asp1068His) c.1327G>C (p.Asp443His) | |
| 6 | g.129297760G= | CA1663102433 | LAMA2 | c.2932G= (p.Asp978=) c.3196G= (p.Asp1066=) c.447G= c.3202G= (p.Asp1068=) c.1327G= (p.Asp443=) | |
| 6 | g.129297760G>T | CA365611062 | LAMA2 | c.2932G>T (p.Asp978Tyr) c.3196G>T (p.Asp1066Tyr) c.447G>T c.3202G>T (p.Asp1068Tyr) c.1327G>T (p.Asp443Tyr) | gnomAD v4 |
| 6 | g.129297761A>C | CA365611063 | LAMA2 | c.2933A>C (p.Asp978Ala) c.3197A>C (p.Asp1066Ala) c.448A>C c.3203A>C (p.Asp1068Ala) c.1328A>C (p.Asp443Ala) | |
| 6 | g.129297761A>G | CA365611064 | LAMA2 | c.2933A>G (p.Asp978Gly) c.3197A>G (p.Asp1066Gly) c.448A>G c.3203A>G (p.Asp1068Gly) c.1328A>G (p.Asp443Gly) | |
| 6 | g.129297761A>T | CA365611065 | LAMA2 | c.2933A>T (p.Asp978Val) c.3197A>T (p.Asp1066Val) c.448A>T c.3203A>T (p.Asp1068Val) c.1328A>T (p.Asp443Val) | |
| 6 | g.129297762C>A | CA365611066 | LAMA2 | c.2934C>A (p.Asp978Glu) c.3198C>A (p.Asp1066Glu) c.449C>A c.3204C>A (p.Asp1068Glu) c.1329C>A (p.Asp443Glu) | |
| 6 | g.129297762C>G | CA365611067 | LAMA2 | c.2934C>G (p.Asp978Glu) c.3198C>G (p.Asp1066Glu) c.449C>G c.3204C>G (p.Asp1068Glu) c.1329C>G (p.Asp443Glu) | |
| 6 | g.129297762C>T | CA451936144 | LAMA2 | c.2934C>T (p.Asp978=) c.3198C>T (p.Asp1066=) c.449C>T c.3204C>T (p.Asp1068=) c.1329C>T (p.Asp443=) | gnomAD v4 |
| 6 | g.129297763T>A | CA365611068 | LAMA2 | c.2935T>A (p.Cys979Ser) c.3199T>A (p.Cys1067Ser) c.450T>A c.3205T>A (p.Cys1069Ser) c.1330T>A (p.Cys444Ser) | |
| 6 | g.129297763T>C | CA365611069 | LAMA2 | c.2935T>C (p.Cys979Arg) c.3199T>C (p.Cys1067Arg) c.450T>C c.3205T>C (p.Cys1069Arg) c.1330T>C (p.Cys444Arg) | |
| 6 | g.129297763T>G | CA365611070 | LAMA2 | c.2935T>G (p.Cys979Gly) c.3199T>G (p.Cys1067Gly) c.450T>G c.3205T>G (p.Cys1069Gly) c.1330T>G (p.Cys444Gly) | |
| 6 | g.129297765_129297766del | CA2695198342 | LAMA2 | c.2937_2938del (p.Cys979Ter) c.3201_3202del (p.Cys1067Ter) c.452_453del c.3207_3208del (p.Cys1069Ter) c.1332_1333del (p.Cys444Ter) | ClinVar |
| 6 | g.129297764G>A | CA365611071 | LAMA2 | c.2936G>A (p.Cys979Tyr) c.3200G>A (p.Cys1067Tyr) c.451G>A c.3206G>A (p.Cys1069Tyr) c.1331G>A (p.Cys444Tyr) | |
| 6 | g.129297764G>C | CA365611072 | LAMA2 | c.2936G>C (p.Cys979Ser) c.3200G>C (p.Cys1067Ser) c.451G>C c.3206G>C (p.Cys1069Ser) c.1331G>C (p.Cys444Ser) | |
| 6 | g.129297764G>T | CA365611073 | LAMA2 | c.2936G>T (p.Cys979Phe) c.3200G>T (p.Cys1067Phe) c.451G>T c.3206G>T (p.Cys1069Phe) c.1331G>T (p.Cys444Phe) | |
| 6 | g.129297765T>A | CA365611075 | LAMA2 | c.2937T>A (p.Cys979Ter) c.3201T>A (p.Cys1067Ter) c.452T>A c.3207T>A (p.Cys1069Ter) c.1332T>A (p.Cys444Ter) | |
| 6 | g.129297765T>C | CA451936145 | LAMA2 | c.2937T>C (p.Cys979=) c.3201T>C (p.Cys1067=) c.452T>C c.3207T>C (p.Cys1069=) c.1332T>C (p.Cys444=) | |
| 6 | g.129297765T>G | CA365611074 | LAMA2 | c.2937T>G (p.Cys979Trp) c.3201T>G (p.Cys1067Trp) c.452T>G c.3207T>G (p.Cys1069Trp) c.1332T>G (p.Cys444Trp) | |
| 6 | g.129297766G>A | CA365611076 | LAMA2 | c.2938G>A (p.Glu980Lys) c.3202G>A (p.Glu1068Lys) c.453G>A c.3208G>A (p.Glu1070Lys) c.1333G>A (p.Glu445Lys) | gnomAD v4 |
| 6 | g.129297766G>C | CA365611078 | LAMA2 | c.2938G>C (p.Glu980Gln) c.3202G>C (p.Glu1068Gln) c.453G>C c.3208G>C (p.Glu1070Gln) c.1333G>C (p.Glu445Gln) | |
| 6 | g.129297766G= | CA1663102437 | LAMA2 | c.2938G= (p.Glu980=) c.3202G= (p.Glu1068=) c.453G= c.3208G= (p.Glu1070=) c.1333G= (p.Glu445=) | |
| 6 | g.129297766G>T | CA365611077 | LAMA2 | c.2938G>T (p.Glu980Ter) c.3202G>T (p.Glu1068Ter) c.453G>T c.3208G>T (p.Glu1070Ter) c.1333G>T (p.Glu445Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129297767A>C | CA365611079 | LAMA2 | c.2939A>C (p.Glu980Ala) c.3203A>C (p.Glu1068Ala) c.454A>C c.3209A>C (p.Glu1070Ala) c.1334A>C (p.Glu445Ala) | |
| 6 | g.129297767A>G | CA365611080 | LAMA2 | c.2939A>G (p.Glu980Gly) c.3203A>G (p.Glu1068Gly) c.454A>G c.3209A>G (p.Glu1070Gly) c.1334A>G (p.Glu445Gly) | |
| 6 | g.129297767A>T | CA365611081 | LAMA2 | c.2939A>T (p.Glu980Val) c.3203A>T (p.Glu1068Val) c.454A>T c.3209A>T (p.Glu1070Val) c.1334A>T (p.Glu445Val) | |
| 6 | g.129297768A>C | CA365611082 | LAMA2 | c.2940A>C (p.Glu980Asp) c.3204A>C (p.Glu1068Asp) c.455A>C c.3210A>C (p.Glu1070Asp) c.1335A>C (p.Glu445Asp) | |
| 6 | g.129297768A>G | CA451936146 | LAMA2 | c.2940A>G (p.Glu980=) c.3204A>G (p.Glu1068=) c.455A>G c.3210A>G (p.Glu1070=) c.1335A>G (p.Glu445=) | |
| 6 | g.129297768A>T | CA365611083 | LAMA2 | c.2940A>T (p.Glu980Asp) c.3204A>T (p.Glu1068Asp) c.455A>T c.3210A>T (p.Glu1070Asp) c.1335A>T (p.Glu445Asp) | |
| 6 | g.129297769G>A | CA365611084 | LAMA2 | c.2941G>A (p.Glu981Lys) c.3205G>A (p.Glu1069Lys) c.456G>A c.3211G>A (p.Glu1071Lys) c.1336G>A (p.Glu446Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.129297769G>C | CA365611085 | LAMA2 | c.2941G>C (p.Glu981Gln) c.3205G>C (p.Glu1069Gln) c.456G>C c.3211G>C (p.Glu1071Gln) c.1336G>C (p.Glu446Gln) | |
| 6 | g.129297769G= | CA1663102441 | LAMA2 | c.2941G= (p.Glu981=) c.3205G= (p.Glu1069=) c.456G= c.3211G= (p.Glu1071=) c.1336G= (p.Glu446=) | |
| 6 | g.129297769G>T | CA365611086 | LAMA2 | c.2941G>T (p.Glu981Ter) c.3205G>T (p.Glu1069Ter) c.456G>T c.3211G>T (p.Glu1071Ter) c.1336G>T (p.Glu446Ter) | |
| 6 | g.129297770A= | CA1663102444 | LAMA2 | c.2942A= (p.Glu981=) c.3206A= (p.Glu1069=) c.457A= c.3212A= (p.Glu1071=) c.1337A= (p.Glu446=) | |
| 6 | g.129297770A>C | CA3993113 | LAMA2 | c.2942A>C (p.Glu981Ala) c.3206A>C (p.Glu1069Ala) c.457A>C c.3212A>C (p.Glu1071Ala) c.1337A>C (p.Glu446Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129297770A>G | CA365611087 | LAMA2 | c.2942A>G (p.Glu981Gly) c.3206A>G (p.Glu1069Gly) c.457A>G c.3212A>G (p.Glu1071Gly) c.1337A>G (p.Glu446Gly) | |
| 6 | g.129297770A>T | CA365611088 | LAMA2 | c.2942A>T (p.Glu981Val) c.3206A>T (p.Glu1069Val) c.457A>T c.3212A>T (p.Glu1071Val) c.1337A>T (p.Glu446Val) | |
| 6 | g.129297771G>A | CA451936147 | LAMA2 | c.2943G>A (p.Glu981=) c.3207G>A (p.Glu1069=) c.458G>A c.3213G>A (p.Glu1071=) c.1338G>A (p.Glu446=) | |
| 6 | g.129297771G>C | CA3993114 | LAMA2 | c.2943G>C (p.Glu981Asp) c.3207G>C (p.Glu1069Asp) c.458G>C c.3213G>C (p.Glu1071Asp) c.1338G>C (p.Glu446Asp) | dbSNP ExAC gnomAD v2 |
| 6 | g.129297771G= | CA1663102449 | LAMA2 | c.2943G= (p.Glu981=) c.3207G= (p.Glu1069=) c.458G= c.3213G= (p.Glu1071=) c.1338G= (p.Glu446=) | |
| 6 | g.129297771G>T | CA365611089 | LAMA2 | c.2943G>T (p.Glu981Asp) c.3207G>T (p.Glu1069Asp) c.458G>T c.3213G>T (p.Glu1071Asp) c.1338G>T (p.Glu446Asp) | |
| 6 | g.129297772A= | CA1663102467 | LAMA2 | c.2944A= (p.Ser982=) c.3208A= (p.Ser1070=) c.459A= c.3214A= (p.Ser1072=) c.1339A= (p.Ser447=) | |
| 6 | g.129297772A>C | CA365611090 | LAMA2 | c.2944A>C (p.Ser982Arg) c.3208A>C (p.Ser1070Arg) c.459A>C c.3214A>C (p.Ser1072Arg) c.1339A>C (p.Ser447Arg) | |
| 6 | g.129297772A>G | CA365611092 | LAMA2 | c.2944A>G (p.Ser982Gly) c.3208A>G (p.Ser1070Gly) c.459A>G c.3214A>G (p.Ser1072Gly) c.1339A>G (p.Ser447Gly) | |
| 6 | g.129297772A>T | CA365611091 | LAMA2 | c.2944A>T (p.Ser982Cys) c.3208A>T (p.Ser1070Cys) c.459A>T c.3214A>T (p.Ser1072Cys) c.1339A>T (p.Ser447Cys) | |
| 6 | g.129297773G>A | CA3993115 | LAMA2 | c.2945G>A (p.Ser982Asn) c.3209G>A (p.Ser1070Asn) c.460G>A c.3215G>A (p.Ser1072Asn) c.1340G>A (p.Ser447Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129297773G>C | CA365611093 | LAMA2 | c.2945G>C (p.Ser982Thr) c.3209G>C (p.Ser1070Thr) c.460G>C c.3215G>C (p.Ser1072Thr) c.1340G>C (p.Ser447Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129297773G= | CA1663102471 | LAMA2 | c.2945G= (p.Ser982=) c.3209G= (p.Ser1070=) c.460G= c.3215G= (p.Ser1072=) c.1340G= (p.Ser447=) | |
| 6 | g.129297773G>T | CA365611094 | LAMA2 | c.2945G>T (p.Ser982Ile) c.3209G>T (p.Ser1070Ile) c.460G>T c.3215G>T (p.Ser1072Ile) c.1340G>T (p.Ser447Ile) | |
| 6 | g.129297773dup | CA570205593 | LAMA2 | c.2945dup (p.Ser982ArgfsTer16) c.3209dup (p.Ser1070ArgfsTer16) c.460dup c.3215dup (p.Ser1072ArgfsTer16) c.1340dup (p.Ser447ArgfsTer16) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129297774T>A | CA365611095 | LAMA2 | c.2946T>A (p.Ser982Arg) c.3210T>A (p.Ser1070Arg) c.461T>A c.3216T>A (p.Ser1072Arg) c.1341T>A (p.Ser447Arg) | |
| 6 | g.129297774T>C | CA451936148 | LAMA2 | c.2946T>C (p.Ser982=) c.3210T>C (p.Ser1070=) c.461T>C c.3216T>C (p.Ser1072=) c.1341T>C (p.Ser447=) | |
| 6 | g.129297774T>G | CA365611096 | LAMA2 | c.2946T>G (p.Ser982Arg) c.3210T>G (p.Ser1070Arg) c.461T>G c.3216T>G (p.Ser1072Arg) c.1341T>G (p.Ser447Arg) | |
| 6 | g.129297775G>A | CA365611097 | LAMA2 | c.2947G>A (p.Gly983Arg) c.3211G>A (p.Gly1071Arg) c.462G>A c.3217G>A (p.Gly1073Arg) c.1342G>A (p.Gly448Arg) | COSMIC |
| 6 | g.129297775G>C | CA365611098 | LAMA2 | c.2947G>C (p.Gly983Arg) c.3211G>C (p.Gly1071Arg) c.462G>C c.3217G>C (p.Gly1073Arg) c.1342G>C (p.Gly448Arg) | |
| 6 | g.129297775G>T | CA365611099 | LAMA2 | c.2947G>T (p.Gly983Ter) c.3211G>T (p.Gly1071Ter) c.462G>T c.3217G>T (p.Gly1073Ter) c.1342G>T (p.Gly448Ter) | |
| 6 | g.129297775_129297777dup | CA2680313390 | LAMA2 | c.2947_2949dup (p.Gly983_Gln984insGly) c.3211_3213dup (p.Gly1071_Gln1072insGly) c.462_464dup c.3217_3219dup (p.Gly1073_Gln1074insGly) c.1342_1344dup (p.Gly448_Gln449insGly) | gnomAD v4 |
| 6 | g.129297776G>A | CA365611100 | LAMA2 | c.2948G>A (p.Gly983Glu) c.3212G>A (p.Gly1071Glu) c.463G>A c.3218G>A (p.Gly1073Glu) c.1343G>A (p.Gly448Glu) | dbSNP |
| 6 | g.129297776G>C | CA365611101 | LAMA2 | c.2948G>C (p.Gly983Ala) c.3212G>C (p.Gly1071Ala) c.463G>C c.3218G>C (p.Gly1073Ala) c.1343G>C (p.Gly448Ala) | |
| 6 | g.129297776G= | CA1663102475 | LAMA2 | c.2948G= (p.Gly983=) c.3212G= (p.Gly1071=) c.463G= c.3218G= (p.Gly1073=) c.1343G= (p.Gly448=) | |
| 6 | g.129297776G>T | CA365611102 | LAMA2 | c.2948G>T (p.Gly983Val) c.3212G>T (p.Gly1071Val) c.463G>T c.3218G>T (p.Gly1073Val) c.1343G>T (p.Gly448Val) | |
| 6 | g.129297777A>C | CA451936149 | LAMA2 | c.2949A>C (p.Gly983=) c.3213A>C (p.Gly1071=) c.464A>C c.3219A>C (p.Gly1073=) c.1344A>C (p.Gly448=) | |
| 6 | g.129297777A>G | CA451936150 | LAMA2 | c.2949A>G (p.Gly983=) c.3213A>G (p.Gly1071=) c.464A>G c.3219A>G (p.Gly1073=) c.1344A>G (p.Gly448=) | dbSNP |
| 6 | g.129297777A>T | CA451936151 | LAMA2 | c.2949A>T (p.Gly983=) c.3213A>T (p.Gly1071=) c.464A>T c.3219A>T (p.Gly1073=) c.1344A>T (p.Gly448=) | |
| 6 | g.129297778C>A | CA365611105 | LAMA2 | c.2950C>A (p.Gln984Lys) c.3214C>A (p.Gln1072Lys) c.465C>A c.3220C>A (p.Gln1074Lys) c.1345C>A (p.Gln449Lys) | |
| 6 | g.129297778C= | CA1663102481 | LAMA2 | c.2950C= (p.Gln984=) c.3214C= (p.Gln1072=) c.465C= c.3220C= (p.Gln1074=) c.1345C= (p.Gln449=) | |
| 6 | g.129297778C>G | CA365611104 | LAMA2 | c.2950C>G (p.Gln984Glu) c.3214C>G (p.Gln1072Glu) c.465C>G c.3220C>G (p.Gln1074Glu) c.1345C>G (p.Gln449Glu) | |
| 6 | g.129297778C>T | CA365611103 | LAMA2 | c.2950C>T (p.Gln984Ter) c.3214C>T (p.Gln1072Ter) c.465C>T c.3220C>T (p.Gln1074Ter) c.1345C>T (p.Gln449Ter) | ClinVar dbSNP |
| 6 | g.129297778_129297779insT | CA2530597426 | LAMA2 | c.2950_2951insT (p.Gln984LeufsTer14) c.3214_3215insT (p.Gln1072LeufsTer14) c.465_466insT c.3220_3221insT (p.Gln1074LeufsTer14) c.1345_1346insT (p.Gln449LeufsTer14) | |
| 6 | g.129297779A>C | CA365611108 | LAMA2 | c.2951A>C (p.Gln984Pro) c.3215A>C (p.Gln1072Pro) c.466A>C c.3221A>C (p.Gln1074Pro) c.1346A>C (p.Gln449Pro) | |
| 6 | g.129297779A>G | CA365611106 | LAMA2 | c.2951A>G (p.Gln984Arg) c.3215A>G (p.Gln1072Arg) c.466A>G c.3221A>G (p.Gln1074Arg) c.1346A>G (p.Gln449Arg) | ClinVar gnomAD v4 |
| 6 | g.129297779A>T | CA365611107 | LAMA2 | c.2951A>T (p.Gln984Leu) c.3215A>T (p.Gln1072Leu) c.466A>T c.3221A>T (p.Gln1074Leu) c.1346A>T (p.Gln449Leu) | |
| 6 | g.129297780A>C | CA365611109 | LAMA2 | c.2952A>C (p.Gln984His) c.3216A>C (p.Gln1072His) c.467A>C c.3222A>C (p.Gln1074His) c.1347A>C (p.Gln449His) | |
| 6 | g.129297780A>G | CA451936152 | LAMA2 | c.2952A>G (p.Gln984=) c.3216A>G (p.Gln1072=) c.467A>G c.3222A>G (p.Gln1074=) c.1347A>G (p.Gln449=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129297780A>T | CA365611110 | LAMA2 | c.2952A>T (p.Gln984His) c.3216A>T (p.Gln1072His) c.467A>T c.3222A>T (p.Gln1074His) c.1347A>T (p.Gln449His) | |
| 6 | g.129297781T>A | CA365611111 | LAMA2 | c.2953T>A (p.Cys985Ser) c.3217T>A (p.Cys1073Ser) c.468T>A c.3223T>A (p.Cys1075Ser) c.1348T>A (p.Cys450Ser) | |
| 6 | g.129297781T>C | CA365611112 | LAMA2 | c.2953T>C (p.Cys985Arg) c.3217T>C (p.Cys1073Arg) c.468T>C c.3223T>C (p.Cys1075Arg) c.1348T>C (p.Cys450Arg) | |
| 6 | g.129297781T>G | CA365611113 | LAMA2 | c.2953T>G (p.Cys985Gly) c.3217T>G (p.Cys1073Gly) c.468T>G c.3223T>G (p.Cys1075Gly) c.1348T>G (p.Cys450Gly) | |
| 6 | g.129297782G>A | CA365611114 | LAMA2 | c.2954G>A (p.Cys985Tyr) c.3218G>A (p.Cys1073Tyr) c.469G>A c.3224G>A (p.Cys1075Tyr) c.1349G>A (p.Cys450Tyr) | |
| 6 | g.129297782G>C | CA365611115 | LAMA2 | c.2954G>C (p.Cys985Ser) c.3218G>C (p.Cys1073Ser) c.469G>C c.3224G>C (p.Cys1075Ser) c.1349G>C (p.Cys450Ser) | |
| 6 | g.129297782G= | CA1663102492 | LAMA2 | c.2954G= (p.Cys985=) c.3218G= (p.Cys1073=) c.469G= c.3224G= (p.Cys1075=) c.1349G= (p.Cys450=) | |
| 6 | g.129297782G>T | CA3993116 | LAMA2 | c.2954G>T (p.Cys985Phe) c.3218G>T (p.Cys1073Phe) c.469G>T c.3224G>T (p.Cys1075Phe) c.1349G>T (p.Cys450Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129297783T>A | CA365611116 | LAMA2 | c.2955T>A (p.Cys985Ter) c.3219T>A (p.Cys1073Ter) c.470T>A c.3225T>A (p.Cys1075Ter) c.1350T>A (p.Cys450Ter) | gnomAD v4 |
| 6 | g.129297783T>C | CA451936153 | LAMA2 | c.2955T>C (p.Cys985=) c.3219T>C (p.Cys1073=) c.470T>C c.3225T>C (p.Cys1075=) c.1350T>C (p.Cys450=) | |
| 6 | g.129297783T>G | CA365611117 | LAMA2 | c.2955T>G (p.Cys985Trp) c.3219T>G (p.Cys1073Trp) c.470T>G c.3225T>G (p.Cys1075Trp) c.1350T>G (p.Cys450Trp) | |
| 6 | g.129297784T>A | CA365611119 | LAMA2 | c.2956T>A (p.Trp986Arg) c.3220T>A (p.Trp1074Arg) c.471T>A c.3226T>A (p.Trp1076Arg) c.1351T>A (p.Trp451Arg) | |
| 6 | g.129297784T>C | CA365611120 | LAMA2 | c.2956T>C (p.Trp986Arg) c.3220T>C (p.Trp1074Arg) c.471T>C c.3226T>C (p.Trp1076Arg) c.1351T>C (p.Trp451Arg) | |
| 6 | g.129297784T>G | CA365611118 | LAMA2 | c.2956T>G (p.Trp986Gly) c.3220T>G (p.Trp1074Gly) c.471T>G c.3226T>G (p.Trp1076Gly) c.1351T>G (p.Trp451Gly) | |
| 6 | g.129297786_129297788dup | CA451936154 | LAMA2 | c.2958_2960dup (p.Trp986_Cys987insTrp) c.3222_3224dup (p.Trp1074_Cys1075insTrp) c.473_475dup c.3228_3230dup (p.Trp1076_Cys1077insTrp) c.1353_1355dup (p.Trp451_Cys452insTrp) | gnomAD v4 |
| 6 | g.129297785G>A | CA365611121 | LAMA2 | c.2957G>A (p.Trp986Ter) c.3221G>A (p.Trp1074Ter) c.472G>A c.3227G>A (p.Trp1076Ter) c.1352G>A (p.Trp451Ter) | ClinVar dbSNP |
| 6 | g.129297785G>C | CA365611122 | LAMA2 | c.2957G>C (p.Trp986Ser) c.3221G>C (p.Trp1074Ser) c.472G>C c.3227G>C (p.Trp1076Ser) c.1352G>C (p.Trp451Ser) | |
| 6 | g.129297785G= | CA1663102496 | LAMA2 | c.2957G= (p.Trp986=) c.3221G= (p.Trp1074=) c.472G= c.3227G= (p.Trp1076=) c.1352G= (p.Trp451=) | |
| 6 | g.129297785G>T | CA365611123 | LAMA2 | c.2957G>T (p.Trp986Leu) c.3221G>T (p.Trp1074Leu) c.472G>T c.3227G>T (p.Trp1076Leu) c.1352G>T (p.Trp451Leu) | dbSNP COSMIC |
| 6 | g.129297786G>A | CA365611124 | LAMA2 | c.2958G>A (p.Trp986Ter) c.3222G>A (p.Trp1074Ter) c.473G>A c.3228G>A (p.Trp1076Ter) c.1353G>A (p.Trp451Ter) | COSMIC |
| 6 | g.129297786G>C | CA365611125 | LAMA2 | c.2958G>C (p.Trp986Cys) c.3222G>C (p.Trp1074Cys) c.473G>C c.3228G>C (p.Trp1076Cys) c.1353G>C (p.Trp451Cys) | |
| 6 | g.129297786G= | CA1663102506 | LAMA2 | c.2958G= (p.Trp986=) c.3222G= (p.Trp1074=) c.473G= c.3228G= (p.Trp1076=) c.1353G= (p.Trp451=) | |
| 6 | g.129297786G>T | CA365611126 | LAMA2 | c.2958G>T (p.Trp986Cys) c.3222G>T (p.Trp1074Cys) c.473G>T c.3228G>T (p.Trp1076Cys) c.1353G>T (p.Trp451Cys) | dbSNP gnomAD v4 |
| 6 | g.129297787T>A | CA365611127 | LAMA2 | c.2959T>A (p.Cys987Ser) c.3223T>A (p.Cys1075Ser) c.474T>A c.3229T>A (p.Cys1077Ser) c.1354T>A (p.Cys452Ser) | |
| 6 | g.129297787T>C | CA365611129 | LAMA2 | c.2959T>C (p.Cys987Arg) c.3223T>C (p.Cys1075Arg) c.474T>C c.3229T>C (p.Cys1077Arg) c.1354T>C (p.Cys452Arg) | |
| 6 | g.129297787T>G | CA365611128 | LAMA2 | c.2959T>G (p.Cys987Gly) c.3223T>G (p.Cys1075Gly) c.474T>G c.3229T>G (p.Cys1077Gly) c.1354T>G (p.Cys452Gly) | |
| 6 | g.129297787dup | CA2695206980 | LAMA2 | c.2959dup (p.Cys987LeufsTer11) c.3223dup (p.Cys1075LeufsTer11) c.474dup c.3229dup (p.Cys1077LeufsTer11) c.1354dup (p.Cys452LeufsTer11) | |
| 6 | g.129297788G>A | CA365611130 | LAMA2 | c.2960G>A (p.Cys987Tyr) c.3224G>A (p.Cys1075Tyr) c.475G>A c.3230G>A (p.Cys1077Tyr) c.1355G>A (p.Cys452Tyr) | |
| 6 | g.129297788G>C | CA365611131 | LAMA2 | c.2960G>C (p.Cys987Ser) c.3224G>C (p.Cys1075Ser) c.475G>C c.3230G>C (p.Cys1077Ser) c.1355G>C (p.Cys452Ser) | |
| 6 | g.129297788G>T | CA365611132 | LAMA2 | c.2960G>T (p.Cys987Phe) c.3224G>T (p.Cys1075Phe) c.475G>T c.3230G>T (p.Cys1077Phe) c.1355G>T (p.Cys452Phe) | |
| 6 | g.129297789C>A | CA365611133 | LAMA2 | c.2961C>A (p.Cys987Ter) c.3225C>A (p.Cys1075Ter) c.476C>A c.3231C>A (p.Cys1077Ter) c.1356C>A (p.Cys452Ter) | |
| 6 | g.129297789C= | CA1663102517 | LAMA2 | c.2961C= (p.Cys987=) c.3225C= (p.Cys1075=) c.476C= c.3231C= (p.Cys1077=) c.1356C= (p.Cys452=) | |
| 6 | g.129297789C>G | CA365611134 | LAMA2 | c.2961C>G (p.Cys987Trp) c.3225C>G (p.Cys1075Trp) c.476C>G c.3231C>G (p.Cys1077Trp) c.1356C>G (p.Cys452Trp) | gnomAD v4 |
| 6 | g.129297789C>T | CA451936155 | LAMA2 | c.2961C>T (p.Cys987=) c.3225C>T (p.Cys1075=) c.476C>T c.3231C>T (p.Cys1077=) c.1356C>T (p.Cys452=) | ClinVar dbSNP |
| 6 | g.129297790C>A | CA365611135 | LAMA2 | c.2962C>A (p.Gln988Lys) c.3226C>A (p.Gln1076Lys) c.477C>A c.3232C>A (p.Gln1078Lys) c.1357C>A (p.Gln453Lys) | |
| 6 | g.129297790C= | CA1663102527 | LAMA2 | c.2962C= (p.Gln988=) c.3226C= (p.Gln1076=) c.477C= c.3232C= (p.Gln1078=) c.1357C= (p.Gln453=) | |
| 6 | g.129297790C>G | CA365611136 | LAMA2 | c.2962C>G (p.Gln988Glu) c.3226C>G (p.Gln1076Glu) c.477C>G c.3232C>G (p.Gln1078Glu) c.1357C>G (p.Gln453Glu) | |
| 6 | g.129297790C>T | CA220758 | LAMA2 | c.2962C>T (p.Gln988Ter) c.3226C>T (p.Gln1076Ter) c.477C>T c.3232C>T (p.Gln1078Ter) c.1357C>T (p.Gln453Ter) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129297791A>C | CA365611137 | LAMA2 | c.2963A>C (p.Gln988Pro) c.3227A>C (p.Gln1076Pro) c.478A>C c.3233A>C (p.Gln1078Pro) c.1358A>C (p.Gln453Pro) | |
| 6 | g.129297791A>G | CA365611139 | LAMA2 | c.2963A>G (p.Gln988Arg) c.3227A>G (p.Gln1076Arg) c.478A>G c.3233A>G (p.Gln1078Arg) c.1358A>G (p.Gln453Arg) | |
| 6 | g.129297791A>T | CA365611138 | LAMA2 | c.2963A>T (p.Gln988Leu) c.3227A>T (p.Gln1076Leu) c.478A>T c.3233A>T (p.Gln1078Leu) c.1358A>T (p.Gln453Leu) | |
| 6 | g.129297792A= | CA1663102530 | LAMA2 | c.2964A= (p.Gln988=) c.3228A= (p.Gln1076=) c.479A= c.3234A= (p.Gln1078=) c.1359A= (p.Gln453=) | |
| 6 | g.129297792A>C | CA365611140 | LAMA2 | c.2964A>C (p.Gln988His) c.3228A>C (p.Gln1076His) c.479A>C c.3234A>C (p.Gln1078His) c.1359A>C (p.Gln453His) | |
| 6 | g.129297792A>G | CA451936156 | LAMA2 | c.2964A>G (p.Gln988=) c.3228A>G (p.Gln1076=) c.479A>G c.3234A>G (p.Gln1078=) c.1359A>G (p.Gln453=) | ClinVar dbSNP |
| 6 | g.129297792A>T | CA365611141 | LAMA2 | c.2964A>T (p.Gln988His) c.3228A>T (p.Gln1076His) c.479A>T c.3234A>T (p.Gln1078His) c.1359A>T (p.Gln453His) | |
| 6 | g.129297793C>A | CA365611142 | LAMA2 | c.2965C>A (p.Pro989Thr) c.3229C>A (p.Pro1077Thr) c.480C>A c.3235C>A (p.Pro1079Thr) c.1360C>A (p.Pro454Thr) | gnomAD v4 |
| 6 | g.129297793C= | CA1663102533 | LAMA2 | c.2965C= (p.Pro989=) c.3229C= (p.Pro1077=) c.480C= c.3235C= (p.Pro1079=) c.1360C= (p.Pro454=) | |
| 6 | g.129297793C>G | CA365611143 | LAMA2 | c.2965C>G (p.Pro989Ala) c.3229C>G (p.Pro1077Ala) c.480C>G c.3235C>G (p.Pro1079Ala) c.1360C>G (p.Pro454Ala) | |
| 6 | g.129297793C>T | CA3993117 | LAMA2 | c.2965C>T (p.Pro989Ser) c.3229C>T (p.Pro1077Ser) c.480C>T c.3235C>T (p.Pro1079Ser) c.1360C>T (p.Pro454Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129297794C>A | CA365611144 | LAMA2 | c.2966C>A (p.Pro989His) c.3230C>A (p.Pro1077His) c.481C>A c.3236C>A (p.Pro1079His) c.1361C>A (p.Pro454His) | COSMIC |
| 6 | g.129297794C>G | CA365611145 | LAMA2 | c.2966C>G (p.Pro989Arg) c.3230C>G (p.Pro1077Arg) c.481C>G c.3236C>G (p.Pro1079Arg) c.1361C>G (p.Pro454Arg) | gnomAD v4 |
| 6 | g.129297794C>T | CA365611146 | LAMA2 | c.2966C>T (p.Pro989Leu) c.3230C>T (p.Pro1077Leu) c.481C>T c.3236C>T (p.Pro1079Leu) c.1361C>T (p.Pro454Leu) | gnomAD v4 |
| 6 | g.129297795T>A | CA451936157 | LAMA2 | c.2967T>A (p.Pro989=) c.3231T>A (p.Pro1077=) c.482T>A c.3237T>A (p.Pro1079=) c.1362T>A (p.Pro454=) | COSMIC |
| 6 | g.129297795T>C | CA451936159 | LAMA2 | c.2967T>C (p.Pro989=) c.3231T>C (p.Pro1077=) c.482T>C c.3237T>C (p.Pro1079=) c.1362T>C (p.Pro454=) | |
| 6 | g.129297795T>G | CA451936158 | LAMA2 | c.2967T>G (p.Pro989=) c.3231T>G (p.Pro1077=) c.482T>G c.3237T>G (p.Pro1079=) c.1362T>G (p.Pro454=) | |
| 6 | g.129297796G>A | CA365611147 | LAMA2 | c.2968G>A (p.Gly990Arg) c.3232G>A (p.Gly1078Arg) c.483G>A c.3238G>A (p.Gly1080Arg) c.1363G>A (p.Gly455Arg) | |
| 6 | g.129297796G>C | CA365611148 | LAMA2 | c.2968G>C (p.Gly990Arg) c.3232G>C (p.Gly1078Arg) c.483G>C c.3238G>C (p.Gly1080Arg) c.1363G>C (p.Gly455Arg) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129297796G= | CA1663102538 | LAMA2 | c.2968G= (p.Gly990=) c.3232G= (p.Gly1078=) c.483G= c.3238G= (p.Gly1080=) c.1363G= (p.Gly455=) | |
| 6 | g.129297796G>T | CA365611149 | LAMA2 | c.2968G>T (p.Gly990Ter) c.3232G>T (p.Gly1078Ter) c.483G>T c.3238G>T (p.Gly1080Ter) c.1363G>T (p.Gly455Ter) | ClinVar dbSNP |
| 6 | g.129297797G>A | CA365611152 | LAMA2 | c.2969G>A (p.Gly990Glu) c.3233G>A (p.Gly1078Glu) c.484G>A c.3239G>A (p.Gly1080Glu) c.1364G>A (p.Gly455Glu) | gnomAD v4 |
| 6 | g.129297797G>C | CA365611151 | LAMA2 | c.2969G>C (p.Gly990Ala) c.3233G>C (p.Gly1078Ala) c.484G>C c.3239G>C (p.Gly1080Ala) c.1364G>C (p.Gly455Ala) | gnomAD v4 |
| 6 | g.129297797G>T | CA365611150 | LAMA2 | c.2969G>T (p.Gly990Val) c.3233G>T (p.Gly1078Val) c.484G>T c.3239G>T (p.Gly1080Val) c.1364G>T (p.Gly455Val) | gnomAD v4 |
| 6 | g.129297798A>C | CA451936160 | LAMA2 | c.2970A>C (p.Gly990=) c.3234A>C (p.Gly1078=) c.485A>C c.3240A>C (p.Gly1080=) c.1365A>C (p.Gly455=) | |
| 6 | g.129297798A>G | CA451936161 | LAMA2 | c.2970A>G (p.Gly990=) c.3234A>G (p.Gly1078=) c.485A>G c.3240A>G (p.Gly1080=) c.1365A>G (p.Gly455=) | |
| 6 | g.129297798A>T | CA451936162 | LAMA2 | c.2970A>T (p.Gly990=) c.3234A>T (p.Gly1078=) c.485A>T c.3240A>T (p.Gly1080=) c.1365A>T (p.Gly455=) | |
| 6 | g.129297799G>A | CA365611153 | LAMA2 | c.2971G>A (p.Val991Ile) c.3235G>A (p.Val1079Ile) c.486G>A c.3241G>A (p.Val1081Ile) c.1366G>A (p.Val456Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129297799G>C | CA365611154 | LAMA2 | c.2971G>C (p.Val991Leu) c.3235G>C (p.Val1079Leu) c.486G>C c.3241G>C (p.Val1081Leu) c.1366G>C (p.Val456Leu) | gnomAD v4 |
| 6 | g.129297799G= | CA1663102543 | LAMA2 | c.2971G= (p.Val991=) c.3235G= (p.Val1079=) c.486G= c.3241G= (p.Val1081=) c.1366G= (p.Val456=) | |
| 6 | g.129297799G>T | CA365611155 | LAMA2 | c.2971G>T (p.Val991Phe) c.3235G>T (p.Val1079Phe) c.486G>T c.3241G>T (p.Val1081Phe) c.1366G>T (p.Val456Phe) | |
| 6 | g.129297800T>A | CA365611156 | LAMA2 | c.2972T>A (p.Val991Asp) c.3236T>A (p.Val1079Asp) c.487T>A c.3242T>A (p.Val1081Asp) c.1367T>A (p.Val456Asp) | |
| 6 | g.129297800T>C | CA365611157 | LAMA2 | c.2972T>C (p.Val991Ala) c.3236T>C (p.Val1079Ala) c.487T>C c.3242T>C (p.Val1081Ala) c.1367T>C (p.Val456Ala) | gnomAD v4 |
| 6 | g.129297800T>G | CA365611158 | LAMA2 | c.2972T>G (p.Val991Gly) c.3236T>G (p.Val1079Gly) c.487T>G c.3242T>G (p.Val1081Gly) c.1367T>G (p.Val456Gly) | |
| 6 | g.129297801C>A | CA451936163 | LAMA2 | c.2973C>A (p.Val991=) c.3237C>A (p.Val1079=) c.488C>A c.3243C>A (p.Val1081=) c.1368C>A (p.Val456=) | |
| 6 | g.129297801C>G | CA451936164 | LAMA2 | c.2973C>G (p.Val991=) c.3237C>G (p.Val1079=) c.488C>G c.3243C>G (p.Val1081=) c.1368C>G (p.Val456=) | |
| 6 | g.129297801C>T | CA451936165 | LAMA2 | c.2973C>T (p.Val991=) c.3237C>T (p.Val1079=) c.488C>T c.3243C>T (p.Val1081=) c.1368C>T (p.Val456=) | gnomAD v4 |
| 6 | g.129297802A>C | CA365611159 | LAMA2 | c.2974A>C (p.Thr992Pro) c.3238A>C (p.Thr1080Pro) c.489A>C c.3244A>C (p.Thr1082Pro) c.1369A>C (p.Thr457Pro) | |
| 6 | g.129297802A>G | CA365611160 | LAMA2 | c.2974A>G (p.Thr992Ala) c.3238A>G (p.Thr1080Ala) c.489A>G c.3244A>G (p.Thr1082Ala) c.1369A>G (p.Thr457Ala) | |
| 6 | g.129297802A>T | CA365611161 | LAMA2 | c.2974A>T (p.Thr992Ser) c.3238A>T (p.Thr1080Ser) c.489A>T c.3244A>T (p.Thr1082Ser) c.1369A>T (p.Thr457Ser) | |
| 6 | g.129297803C>A | CA365611162 | LAMA2 | c.2975C>A (p.Thr992Lys) c.3239C>A (p.Thr1080Lys) c.490C>A c.3245C>A (p.Thr1082Lys) c.1370C>A (p.Thr457Lys) | |
| 6 | g.129297803C>G | CA365611163 | LAMA2 | c.2975C>G (p.Thr992Arg) c.3239C>G (p.Thr1080Arg) c.490C>G c.3245C>G (p.Thr1082Arg) c.1370C>G (p.Thr457Arg) | |
| 6 | g.129297803C>T | CA365611164 | LAMA2 | c.2975C>T (p.Thr992Ile) c.3239C>T (p.Thr1080Ile) c.490C>T c.3245C>T (p.Thr1082Ile) c.1370C>T (p.Thr457Ile) | |
| 6 | g.129297804A>C | CA451936168 | LAMA2 | c.2976A>C (p.Thr992=) c.3240A>C (p.Thr1080=) c.491A>C c.3246A>C (p.Thr1082=) c.1371A>C (p.Thr457=) | |
| 6 | g.129297804A>G | CA451936166 | LAMA2 | c.2976A>G (p.Thr992=) c.3240A>G (p.Thr1080=) c.491A>G c.3246A>G (p.Thr1082=) c.1371A>G (p.Thr457=) | ClinVar dbSNP |
| 6 | g.129297804A>T | CA451936167 | LAMA2 | c.2976A>T (p.Thr992=) c.3240A>T (p.Thr1080=) c.491A>T c.3246A>T (p.Thr1082=) c.1371A>T (p.Thr457=) | |
| 6 | g.129297805G>A | CA365611167 | LAMA2 | c.2977G>A (p.Gly993Arg) c.3241G>A (p.Gly1081Arg) c.492G>A c.3247G>A (p.Gly1083Arg) c.1372G>A (p.Gly458Arg) | |
| 6 | g.129297805G>C | CA365611166 | LAMA2 | c.2977G>C (p.Gly993Arg) c.3241G>C (p.Gly1081Arg) c.492G>C c.3247G>C (p.Gly1083Arg) c.1372G>C (p.Gly458Arg) | |
| 6 | g.129297805G>T | CA365611165 | LAMA2 | c.2977G>T (p.Gly993Trp) c.3241G>T (p.Gly1081Trp) c.492G>T c.3247G>T (p.Gly1083Trp) c.1372G>T (p.Gly458Trp) | |
| 6 | g.129297806G>A | CA146900643 | LAMA2 | c.2978G>A (p.Gly993Glu) c.3242G>A (p.Gly1081Glu) c.493G>A c.3248G>A (p.Gly1083Glu) c.1373G>A (p.Gly458Glu) | dbSNP |
| 6 | g.129297806G>C | CA365611168 | LAMA2 | c.2978G>C (p.Gly993Ala) c.3242G>C (p.Gly1081Ala) c.493G>C c.3248G>C (p.Gly1083Ala) c.1373G>C (p.Gly458Ala) | |
| 6 | g.129297806G= | CA1663102548 | LAMA2 | c.2978G= (p.Gly993=) c.3242G= (p.Gly1081=) c.493G= c.3248G= (p.Gly1083=) c.1373G= (p.Gly458=) | |
| 6 | g.129297806G>T | CA365611169 | LAMA2 | c.2978G>T (p.Gly993Val) c.3242G>T (p.Gly1081Val) c.493G>T c.3248G>T (p.Gly1083Val) c.1373G>T (p.Gly458Val) | |
| 6 | g.129297807G>A | CA451936169 | LAMA2 | c.2979G>A (p.Gly993=) c.3243G>A (p.Gly1081=) c.494G>A c.3249G>A (p.Gly1083=) c.1374G>A (p.Gly458=) | |
| 6 | g.129297807G>C | CA451936170 | LAMA2 | c.2979G>C (p.Gly993=) c.3243G>C (p.Gly1081=) c.494G>C c.3249G>C (p.Gly1083=) c.1374G>C (p.Gly458=) | |
| 6 | g.129297807G>T | CA451936171 | LAMA2 | c.2979G>T (p.Gly993=) c.3243G>T (p.Gly1081=) c.494G>T c.3249G>T (p.Gly1083=) c.1374G>T (p.Gly458=) | |
| 6 | g.129297808A>C | CA365611170 | LAMA2 | c.2980A>C (p.Lys994Gln) c.3244A>C (p.Lys1082Gln) c.495A>C c.3250A>C (p.Lys1084Gln) c.1375A>C (p.Lys459Gln) | |
| 6 | g.129297808A>G | CA365611171 | LAMA2 | c.2980A>G (p.Lys994Glu) c.3244A>G (p.Lys1082Glu) c.495A>G c.3250A>G (p.Lys1084Glu) c.1375A>G (p.Lys459Glu) | |
| 6 | g.129297808A>T | CA365611172 | LAMA2 | c.2980A>T (p.Lys994Ter) c.3244A>T (p.Lys1082Ter) c.495A>T c.3250A>T (p.Lys1084Ter) c.1375A>T (p.Lys459Ter) | |
| 6 | g.129297809A>C | CA365611175 | LAMA2 | c.2981A>C (p.Lys994Thr) c.3245A>C (p.Lys1082Thr) c.496A>C c.3251A>C (p.Lys1084Thr) c.1376A>C (p.Lys459Thr) | |
| 6 | g.129297809A>G | CA365611173 | LAMA2 | c.2981A>G (p.Lys994Arg) c.3245A>G (p.Lys1082Arg) c.496A>G c.3251A>G (p.Lys1084Arg) c.1376A>G (p.Lys459Arg) | |
| 6 | g.129297809A>T | CA365611174 | LAMA2 | c.2981A>T (p.Lys994Met) c.3245A>T (p.Lys1082Met) c.496A>T c.3251A>T (p.Lys1084Met) c.1376A>T (p.Lys459Met) | |
| 6 | g.129297810G>A | CA451936172 | LAMA2 | c.2982G>A (p.Lys994=) c.3246G>A (p.Lys1082=) c.497G>A c.3252G>A (p.Lys1084=) c.1377G>A (p.Lys459=) | |
| 6 | g.129297810G>C | CA365611176 | LAMA2 | c.2982G>C (p.Lys994Asn) c.3246G>C (p.Lys1082Asn) c.497G>C c.3252G>C (p.Lys1084Asn) c.1377G>C (p.Lys459Asn) | |
| 6 | g.129297810G>T | CA365611177 | LAMA2 | c.2982G>T (p.Lys994Asn) c.3246G>T (p.Lys1082Asn) c.497G>T c.3252G>T (p.Lys1084Asn) c.1377G>T (p.Lys459Asn) | |
| 6 | g.129297811A>C | CA365611178 | LAMA2 | c.2983A>C (p.Lys995Gln) c.3247A>C (p.Lys1083Gln) c.498A>C c.3253A>C (p.Lys1085Gln) c.1378A>C (p.Lys460Gln) | |
| 6 | g.129297811A>G | CA365611179 | LAMA2 | c.2983A>G (p.Lys995Glu) c.3247A>G (p.Lys1083Glu) c.498A>G c.3253A>G (p.Lys1085Glu) c.1378A>G (p.Lys460Glu) | |
| 6 | g.129297811A>T | CA365611180 | LAMA2 | c.2983A>T (p.Lys995Ter) c.3247A>T (p.Lys1083Ter) c.498A>T c.3253A>T (p.Lys1085Ter) c.1378A>T (p.Lys460Ter) | |
| 6 | g.129297812A>C | CA365611181 | LAMA2 | c.2984A>C (p.Lys995Thr) c.3248A>C (p.Lys1083Thr) c.499A>C c.3254A>C (p.Lys1085Thr) c.1379A>C (p.Lys460Thr) | |
| 6 | g.129297812A>G | CA365611183 | LAMA2 | c.2984A>G (p.Lys995Arg) c.3248A>G (p.Lys1083Arg) c.499A>G c.3254A>G (p.Lys1085Arg) c.1379A>G (p.Lys460Arg) | |
| 6 | g.129297812A>T | CA365611182 | LAMA2 | c.2984A>T (p.Lys995Ile) c.3248A>T (p.Lys1083Ile) c.499A>T c.3254A>T (p.Lys1085Ile) c.1379A>T (p.Lys460Ile) | |
| 6 | g.129297813A>C | CA365611184 | LAMA2 | c.2985A>C (p.Lys995Asn) c.3249A>C (p.Lys1083Asn) c.500A>C c.3255A>C (p.Lys1085Asn) c.1380A>C (p.Lys460Asn) | |
| 6 | g.129297813A>G | CA451936173 | LAMA2 | c.2985A>G (p.Lys995=) c.3249A>G (p.Lys1083=) c.500A>G c.3255A>G (p.Lys1085=) c.1380A>G (p.Lys460=) | |
| 6 | g.129297813A>T | CA365611185 | LAMA2 | c.2985A>T (p.Lys995Asn) c.3249A>T (p.Lys1083Asn) c.500A>T c.3255A>T (p.Lys1085Asn) c.1380A>T (p.Lys460Asn) | |
| 6 | g.129297814T>A | CA365611186 | LAMA2 | c.2986T>A (p.Cys996Ser) c.3250T>A (p.Cys1084Ser) c.501T>A c.3256T>A (p.Cys1086Ser) c.1381T>A (p.Cys461Ser) | |
| 6 | g.129297814T>C | CA365611187 | LAMA2 | c.2986T>C (p.Cys996Arg) c.3250T>C (p.Cys1084Arg) c.501T>C c.3256T>C (p.Cys1086Arg) c.1381T>C (p.Cys461Arg) | |
| 6 | g.129297814T>G | CA365611188 | LAMA2 | c.2986T>G (p.Cys996Gly) c.3250T>G (p.Cys1084Gly) c.501T>G c.3256T>G (p.Cys1086Gly) c.1381T>G (p.Cys461Gly) | ClinVar gnomAD v4 |
| 6 | g.129297815G>A | CA365611189 | LAMA2 | c.2987G>A (p.Cys996Tyr) c.3251G>A (p.Cys1084Tyr) c.502G>A c.3257G>A (p.Cys1086Tyr) c.1382G>A (p.Cys461Tyr) | |
| 6 | g.129297815G>C | CA365611190 | LAMA2 | c.2987G>C (p.Cys996Ser) c.3251G>C (p.Cys1084Ser) c.502G>C c.3257G>C (p.Cys1086Ser) c.1382G>C (p.Cys461Ser) | |
| 6 | g.129297815G>T | CA365611191 | LAMA2 | c.2987G>T (p.Cys996Phe) c.3251G>T (p.Cys1084Phe) c.502G>T c.3257G>T (p.Cys1086Phe) c.1382G>T (p.Cys461Phe) | |
| 6 | g.129297816T>A | CA365611192 | LAMA2 | c.2988T>A (p.Cys996Ter) c.3252T>A (p.Cys1084Ter) c.503T>A c.3258T>A (p.Cys1086Ter) c.1383T>A (p.Cys461Ter) | |
| 6 | g.129297816T>C | CA146900648 | LAMA2 | c.2988T>C (p.Cys996=) c.3252T>C (p.Cys1084=) c.503T>C c.3258T>C (p.Cys1086=) c.1383T>C (p.Cys461=) | dbSNP gnomAD v4 |
| 6 | g.129297816T>G | CA365611193 | LAMA2 | c.2988T>G (p.Cys996Trp) c.3252T>G (p.Cys1084Trp) c.503T>G c.3258T>G (p.Cys1086Trp) c.1383T>G (p.Cys461Trp) | |
| 6 | g.129297816T= | CA1663102554 | LAMA2 | c.2988T= (p.Cys996=) c.3252T= (p.Cys1084=) c.503T= c.3258T= (p.Cys1086=) c.1383T= (p.Cys461=) | |
| 6 | g.129297817G>A | CA365611196 | LAMA2 | c.2989G>A (p.Asp997Asn) c.3253G>A (p.Asp1085Asn) c.504G>A c.3259G>A (p.Asp1087Asn) c.1384G>A (p.Asp462Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129297817G>C | CA365611194 | LAMA2 | c.2989G>C (p.Asp997His) c.3253G>C (p.Asp1085His) c.504G>C c.3259G>C (p.Asp1087His) c.1384G>C (p.Asp462His) | |
| 6 | g.129297817G= | CA1663102558 | LAMA2 | c.2989G= (p.Asp997=) c.3253G= (p.Asp1085=) c.504G= c.3259G= (p.Asp1087=) c.1384G= (p.Asp462=) | |
| 6 | g.129297817G>T | CA365611195 | LAMA2 | c.2989G>T (p.Asp997Tyr) c.3253G>T (p.Asp1085Tyr) c.504G>T c.3259G>T (p.Asp1087Tyr) c.1384G>T (p.Asp462Tyr) | gnomAD v4 |
| 6 | g.129297818A= | CA1663102562 | LAMA2 | c.2990A= (p.Asp997=) c.3254A= (p.Asp1085=) c.505A= c.3260A= (p.Asp1087=) c.1385A= (p.Asp462=) | |
| 6 | g.129297818A>C | CA365611197 | LAMA2 | c.2990A>C (p.Asp997Ala) c.3254A>C (p.Asp1085Ala) c.505A>C c.3260A>C (p.Asp1087Ala) c.1385A>C (p.Asp462Ala) | |
| 6 | g.129297818A>G | CA365611199 | LAMA2 | c.2990A>G (p.Asp997Gly) c.3254A>G (p.Asp1085Gly) c.505A>G c.3260A>G (p.Asp1087Gly) c.1385A>G (p.Asp462Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129297818A>T | CA365611198 | LAMA2 | c.2990A>T (p.Asp997Val) c.3254A>T (p.Asp1085Val) c.505A>T c.3260A>T (p.Asp1087Val) c.1385A>T (p.Asp462Val) | |
| 6 | g.129297819C>A | CA365611200 | LAMA2 | c.2991C>A (p.Asp997Glu) c.3255C>A (p.Asp1085Glu) c.506C>A c.3261C>A (p.Asp1087Glu) c.1386C>A (p.Asp462Glu) | |
| 6 | g.129297819C= | CA1663102566 | LAMA2 | c.2991C= (p.Asp997=) c.3255C= (p.Asp1085=) c.506C= c.3261C= (p.Asp1087=) c.1386C= (p.Asp462=) | |
| 6 | g.129297819C>G | CA365611201 | LAMA2 | c.2991C>G (p.Asp997Glu) c.3255C>G (p.Asp1085Glu) c.506C>G c.3261C>G (p.Asp1087Glu) c.1386C>G (p.Asp462Glu) | |
| 6 | g.129297819C>T | CA3993118 | LAMA2 | c.2991C>T (p.Asp997=) c.3255C>T (p.Asp1085=) c.506C>T c.3261C>T (p.Asp1087=) c.1386C>T (p.Asp462=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129297820C>A | CA365611202 | LAMA2 | c.2992C>A (p.Arg998Ser) c.3256C>A (p.Arg1086Ser) c.507C>A c.3262C>A (p.Arg1088Ser) c.1387C>A (p.Arg463Ser) | |
| 6 | g.129297820C= | CA1663102572 | LAMA2 | c.2992C= (p.Arg998=) c.3256C= (p.Arg1086=) c.507C= c.3262C= (p.Arg1088=) c.1387C= (p.Arg463=) | |
| 6 | g.129297820C>G | CA365611203 | LAMA2 | c.2992C>G (p.Arg998Gly) c.3256C>G (p.Arg1086Gly) c.507C>G c.3262C>G (p.Arg1088Gly) c.1387C>G (p.Arg463Gly) | COSMIC |
| 6 | g.129297820C>T | CA3993119 | LAMA2 | c.2992C>T (p.Arg998Cys) c.3256C>T (p.Arg1086Cys) c.507C>T c.3262C>T (p.Arg1088Cys) c.1387C>T (p.Arg463Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129297821G>A | CA242031 | LAMA2 | c.2993G>A (p.Arg998His) c.3257G>A (p.Arg1086His) c.508G>A c.3263G>A (p.Arg1088His) c.1388G>A (p.Arg463His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129297821G>C | CA365611204 | LAMA2 | c.2993G>C (p.Arg998Pro) c.3257G>C (p.Arg1086Pro) c.508G>C c.3263G>C (p.Arg1088Pro) c.1388G>C (p.Arg463Pro) | |
| 6 | g.129297821G= | CA1663102578 | LAMA2 | c.2993G= (p.Arg998=) c.3257G= (p.Arg1086=) c.508G= c.3263G= (p.Arg1088=) c.1388G= (p.Arg463=) | |
| 6 | g.129297821G>T | CA146900664 | LAMA2 | c.2993G>T (p.Arg998Leu) c.3257G>T (p.Arg1086Leu) c.508G>T c.3263G>T (p.Arg1088Leu) c.1388G>T (p.Arg463Leu) | dbSNP gnomAD v4 |
| 6 | g.129297822C>A | CA451936174 | LAMA2 | c.2994C>A (p.Arg998=) c.3258C>A (p.Arg1086=) c.509C>A c.3264C>A (p.Arg1088=) c.1389C>A (p.Arg463=) | |
| 6 | g.129297822C>G | CA451936175 | LAMA2 | c.2994C>G (p.Arg998=) c.3258C>G (p.Arg1086=) c.509C>G c.3264C>G (p.Arg1088=) c.1389C>G (p.Arg463=) | |
| 6 | g.129297822C>T | CA451936176 | LAMA2 | c.2994C>T (p.Arg998=) c.3258C>T (p.Arg1086=) c.509C>T c.3264C>T (p.Arg1088=) c.1389C>T (p.Arg463=) | ClinVar |