Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
6 | g.129297823T>A | CA365611205 | LAMA2 | c.2995T>A (p.Cys999Ser) c.3259T>A (p.Cys1087Ser) c.510T>A c.3265T>A (p.Cys1089Ser) c.1390T>A (p.Cys464Ser) | |
6 | g.129297823T>C | CA365611206 | LAMA2 | c.2995T>C (p.Cys999Arg) c.3259T>C (p.Cys1087Arg) c.510T>C c.3265T>C (p.Cys1089Arg) c.1390T>C (p.Cys464Arg) | |
6 | g.129297823T>G | CA365611207 | LAMA2 | c.2995T>G (p.Cys999Gly) c.3259T>G (p.Cys1087Gly) c.510T>G c.3265T>G (p.Cys1089Gly) c.1390T>G (p.Cys464Gly) | gnomAD v4 |
6 | g.129297824G>A | CA365611208 | LAMA2 | c.2996G>A (p.Cys999Tyr) c.3260G>A (p.Cys1087Tyr) c.511G>A c.3266G>A (p.Cys1089Tyr) c.1391G>A (p.Cys464Tyr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.129297824G>C | CA365611209 | LAMA2 | c.2996G>C (p.Cys999Ser) c.3260G>C (p.Cys1087Ser) c.511G>C c.3266G>C (p.Cys1089Ser) c.1391G>C (p.Cys464Ser) | |
6 | g.129297824G= | CA1663102584 | LAMA2 | c.2996G= (p.Cys999=) c.3260G= (p.Cys1087=) c.511G= c.3266G= (p.Cys1089=) c.1391G= (p.Cys464=) | |
6 | g.129297824G>T | CA365611210 | LAMA2 | c.2996G>T (p.Cys999Phe) c.3260G>T (p.Cys1087Phe) c.511G>T c.3266G>T (p.Cys1089Phe) c.1391G>T (p.Cys464Phe) | |
6 | g.129297825T>A | CA365611211 | LAMA2 | c.2997T>A (p.Cys999Ter) c.3261T>A (p.Cys1087Ter) c.512T>A c.3267T>A (p.Cys1089Ter) c.1392T>A (p.Cys464Ter) | |
6 | g.129297825T>C | CA451936178 | LAMA2 | c.2997T>C (p.Cys999=) c.3261T>C (p.Cys1087=) c.512T>C c.3267T>C (p.Cys1089=) c.1392T>C (p.Cys464=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.129297825T>G | CA365611212 | LAMA2 | c.2997T>G (p.Cys999Trp) c.3261T>G (p.Cys1087Trp) c.512T>G c.3267T>G (p.Cys1089Trp) c.1392T>G (p.Cys464Trp) | |
6 | g.129297825T= | CA1663102588 | LAMA2 | c.2997T= (p.Cys999=) c.3261T= (p.Cys1087=) c.512T= c.3267T= (p.Cys1089=) c.1392T= (p.Cys464=) | |
6 | g.129297826G>A | CA365611213 | LAMA2 | c.2998G>A (p.Ala1000Thr) c.3262G>A (p.Ala1088Thr) c.513G>A c.3268G>A (p.Ala1090Thr) c.1393G>A (p.Ala465Thr) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.129297826G>C | CA3993120 | LAMA2 | c.2998G>C (p.Ala1000Pro) c.3262G>C (p.Ala1088Pro) c.513G>C c.3268G>C (p.Ala1090Pro) c.1393G>C (p.Ala465Pro) | dbSNP ExAC |
6 | g.129297826G= | CA1663102590 | LAMA2 | c.2998G= (p.Ala1000=) c.3262G= (p.Ala1088=) c.513G= c.3268G= (p.Ala1090=) c.1393G= (p.Ala465=) | |
6 | g.129297826G>T | CA365611214 | LAMA2 | c.2998G>T (p.Ala1000Ser) c.3262G>T (p.Ala1088Ser) c.513G>T c.3268G>T (p.Ala1090Ser) c.1393G>T (p.Ala465Ser) | ClinVar dbSNP |
6 | g.129297827C>A | CA3993121 | LAMA2 | c.2999C>A (p.Ala1000Asp) c.3263C>A (p.Ala1088Asp) c.514C>A c.3269C>A (p.Ala1090Asp) c.1394C>A (p.Ala465Asp) | dbSNP ExAC gnomAD v2 |
6 | g.129297827C= | CA1663102594 | LAMA2 | c.2999C= (p.Ala1000=) c.3263C= (p.Ala1088=) c.514C= c.3269C= (p.Ala1090=) c.1394C= (p.Ala465=) | |
6 | g.129297827C>G | CA365611215 | LAMA2 | c.2999C>G (p.Ala1000Gly) c.3263C>G (p.Ala1088Gly) c.514C>G c.3269C>G (p.Ala1090Gly) c.1394C>G (p.Ala465Gly) | |
6 | g.129297827C>T | CA365611216 | LAMA2 | c.2999C>T (p.Ala1000Val) c.3263C>T (p.Ala1088Val) c.514C>T c.3269C>T (p.Ala1090Val) c.1394C>T (p.Ala465Val) | gnomAD v4 |
6 | g.129297828C>A | CA451936180 | LAMA2 | c.3000C>A (p.Ala1000=) c.3264C>A (p.Ala1088=) c.515C>A c.3270C>A (p.Ala1090=) c.1395C>A (p.Ala465=) | |
6 | g.129297828C= | CA1663102597 | LAMA2 | c.3000C= (p.Ala1000=) c.3264C= (p.Ala1088=) c.515C= c.3270C= (p.Ala1090=) c.1395C= (p.Ala465=) | |
6 | g.129297828C>G | CA451936181 | LAMA2 | c.3000C>G (p.Ala1000=) c.3264C>G (p.Ala1088=) c.515C>G c.3270C>G (p.Ala1090=) c.1395C>G (p.Ala465=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.129297828C>T | CA3993122 | LAMA2 | c.3000C>T (p.Ala1000=) c.3264C>T (p.Ala1088=) c.515C>T c.3270C>T (p.Ala1090=) c.1395C>T (p.Ala465=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.129297829C>A | CA365611217 | LAMA2 | c.3001C>A (p.His1001Asn) c.3265C>A (p.His1089Asn) c.516C>A c.3271C>A (p.His1091Asn) c.1396C>A (p.His466Asn) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.129297829C= | CA1663102604 | LAMA2 | c.3001C= (p.His1001=) c.3265C= (p.His1089=) c.516C= c.3271C= (p.His1091=) c.1396C= (p.His466=) | |
6 | g.129297829C>G | CA365611218 | LAMA2 | c.3001C>G (p.His1001Asp) c.3265C>G (p.His1089Asp) c.516C>G c.3271C>G (p.His1091Asp) c.1396C>G (p.His466Asp) | |
6 | g.129297829C>T | CA365611219 | LAMA2 | c.3001C>T (p.His1001Tyr) c.3265C>T (p.His1089Tyr) c.516C>T c.3271C>T (p.His1091Tyr) c.1396C>T (p.His466Tyr) | ClinVar dbSNP gnomAD v4 |
6 | g.129297830A= | CA1663102609 | LAMA2 | c.3002A= (p.His1001=) c.3266A= (p.His1089=) c.517A= c.3272A= (p.His1091=) c.1397A= (p.His466=) | |
6 | g.129297830A>C | CA3993123 | LAMA2 | c.3002A>C (p.His1001Pro) c.3266A>C (p.His1089Pro) c.517A>C c.3272A>C (p.His1091Pro) c.1397A>C (p.His466Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129297830A>G | CA365611221 | LAMA2 | c.3002A>G (p.His1001Arg) c.3266A>G (p.His1089Arg) c.517A>G c.3272A>G (p.His1091Arg) c.1397A>G (p.His466Arg) | gnomAD v4 |
6 | g.129297830A>T | CA365611220 | LAMA2 | c.3002A>T (p.His1001Leu) c.3266A>T (p.His1089Leu) c.517A>T c.3272A>T (p.His1091Leu) c.1397A>T (p.His466Leu) | |
6 | g.129297830dup | CA2695206981 | LAMA2 | c.3002dup (p.His1001GlnfsTer15) c.3266dup (p.His1089GlnfsTer15) c.517dup c.3272dup (p.His1091GlnfsTer15) c.1397dup (p.His466GlnfsTer15) | |
6 | g.129297831C>A | CA3993125 | LAMA2 | c.3003C>A (p.His1001Gln) c.3267C>A (p.His1089Gln) c.518C>A c.3273C>A (p.His1091Gln) c.1398C>A (p.His466Gln) | dbSNP ExAC |
6 | g.129297831C= | CA1663102622 | LAMA2 | c.3003C= (p.His1001=) c.3267C= (p.His1089=) c.518C= c.3273C= (p.His1091=) c.1398C= (p.His466=) | |
6 | g.129297831C>G | CA365611222 | LAMA2 | c.3003C>G (p.His1001Gln) c.3267C>G (p.His1089Gln) c.518C>G c.3273C>G (p.His1091Gln) c.1398C>G (p.His466Gln) | |
6 | g.129297831C>T | CA3993124 | LAMA2 | c.3003C>T (p.His1001=) c.3267C>T (p.His1089=) c.518C>T c.3273C>T (p.His1091=) c.1398C>T (p.His466=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129297832G>A | CA3993126 | LAMA2 | c.3004G>A (p.Gly1002Ser) c.3268G>A (p.Gly1090Ser) c.519G>A c.3274G>A (p.Gly1092Ser) c.1399G>A (p.Gly467Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129297832G>C | CA365611223 | LAMA2 | c.3004G>C (p.Gly1002Arg) c.3268G>C (p.Gly1090Arg) c.519G>C c.3274G>C (p.Gly1092Arg) c.1399G>C (p.Gly467Arg) | |
6 | g.129297832G= | CA1663102630 | LAMA2 | c.3004G= (p.Gly1002=) c.3268G= (p.Gly1090=) c.519G= c.3274G= (p.Gly1092=) c.1399G= (p.Gly467=) | |
6 | g.129297832G>T | CA365611224 | LAMA2 | c.3004G>T (p.Gly1002Cys) c.3268G>T (p.Gly1090Cys) c.519G>T c.3274G>T (p.Gly1092Cys) c.1399G>T (p.Gly467Cys) | gnomAD v4 |
6 | g.129297833G>A | CA365611225 | LAMA2 | c.3005G>A (p.Gly1002Asp) c.3269G>A (p.Gly1090Asp) c.520G>A c.3275G>A (p.Gly1092Asp) c.1400G>A (p.Gly467Asp) | |
6 | g.129297833G>C | CA365611226 | LAMA2 | c.3005G>C (p.Gly1002Ala) c.3269G>C (p.Gly1090Ala) c.520G>C c.3275G>C (p.Gly1092Ala) c.1400G>C (p.Gly467Ala) | |
6 | g.129297833G= | CA1663102636 | LAMA2 | c.3005G= (p.Gly1002=) c.3269G= (p.Gly1090=) c.520G= c.3275G= (p.Gly1092=) c.1400G= (p.Gly467=) | |
6 | g.129297833G>T | CA365611227 | LAMA2 | c.3005G>T (p.Gly1002Val) c.3269G>T (p.Gly1090Val) c.520G>T c.3275G>T (p.Gly1092Val) c.1400G>T (p.Gly467Val) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.129297834C>A | CA451936182 | LAMA2 | c.3006C>A (p.Gly1002=) c.3270C>A (p.Gly1090=) c.521C>A c.3276C>A (p.Gly1092=) c.1401C>A (p.Gly467=) | |
6 | g.129297834C>G | CA451936183 | LAMA2 | c.3006C>G (p.Gly1002=) c.3270C>G (p.Gly1090=) c.521C>G c.3276C>G (p.Gly1092=) c.1401C>G (p.Gly467=) | |
6 | g.129297834C>T | CA451936184 | LAMA2 | c.3006C>T (p.Gly1002=) c.3270C>T (p.Gly1090=) c.521C>T c.3276C>T (p.Gly1092=) c.1401C>T (p.Gly467=) | |
6 | g.129297835T>A | CA365611228 | LAMA2 | c.3007T>A (p.Tyr1003Asn) c.3271T>A (p.Tyr1091Asn) c.522T>A c.3277T>A (p.Tyr1093Asn) c.1402T>A (p.Tyr468Asn) | |
6 | g.129297835T>C | CA3993127 | LAMA2 | c.3007T>C (p.Tyr1003His) c.3271T>C (p.Tyr1091His) c.522T>C c.3277T>C (p.Tyr1093His) c.1402T>C (p.Tyr468His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.129297835T>G | CA365611229 | LAMA2 | c.3007T>G (p.Tyr1003Asp) c.3271T>G (p.Tyr1091Asp) c.522T>G c.3277T>G (p.Tyr1093Asp) c.1402T>G (p.Tyr468Asp) | |
6 | g.129297835T= | CA1663102637 | LAMA2 | c.3007T= (p.Tyr1003=) c.3271T= (p.Tyr1091=) c.522T= c.3277T= (p.Tyr1093=) c.1402T= (p.Tyr468=) | |
6 | g.129297836A= | CA1663102638 | LAMA2 | c.3008A= (p.Tyr1003=) c.3272A= (p.Tyr1091=) c.523A= c.3278A= (p.Tyr1093=) c.1403A= (p.Tyr468=) | |
6 | g.129297836A>C | CA365611231 | LAMA2 | c.3008A>C (p.Tyr1003Ser) c.3272A>C (p.Tyr1091Ser) c.523A>C c.3278A>C (p.Tyr1093Ser) c.1403A>C (p.Tyr468Ser) | |
6 | g.129297836A>G | CA146900708 | LAMA2 | c.3008A>G (p.Tyr1003Cys) c.3272A>G (p.Tyr1091Cys) c.523A>G c.3278A>G (p.Tyr1093Cys) c.1403A>G (p.Tyr468Cys) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.129297836A>T | CA365611230 | LAMA2 | c.3008A>T (p.Tyr1003Phe) c.3272A>T (p.Tyr1091Phe) c.523A>T c.3278A>T (p.Tyr1093Phe) c.1403A>T (p.Tyr468Phe) | |
6 | g.129297837T>A | CA365611232 | LAMA2 | c.3009T>A (p.Tyr1003Ter) c.3273T>A (p.Tyr1091Ter) c.524T>A c.3279T>A (p.Tyr1093Ter) c.1404T>A (p.Tyr468Ter) | |
6 | g.129297837T>C | CA451936185 | LAMA2 | c.3009T>C (p.Tyr1003=) c.3273T>C (p.Tyr1091=) c.524T>C c.3279T>C (p.Tyr1093=) c.1404T>C (p.Tyr468=) | |
6 | g.129297837T>G | CA365611233 | LAMA2 | c.3009T>G (p.Tyr1003Ter) c.3273T>G (p.Tyr1091Ter) c.524T>G c.3279T>G (p.Tyr1093Ter) c.1404T>G (p.Tyr468Ter) | |
6 | g.129297838T>A | CA365611234 | LAMA2 | c.3010T>A (p.Phe1004Ile) c.3274T>A (p.Phe1092Ile) c.525T>A c.3280T>A (p.Phe1094Ile) c.1405T>A (p.Phe469Ile) | |
6 | g.129297838T>C | CA3993128 | LAMA2 | c.3010T>C (p.Phe1004Leu) c.3274T>C (p.Phe1092Leu) c.525T>C c.3280T>C (p.Phe1094Leu) c.1405T>C (p.Phe469Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.129297838T>G | CA365611235 | LAMA2 | c.3010T>G (p.Phe1004Val) c.3274T>G (p.Phe1092Val) c.525T>G c.3280T>G (p.Phe1094Val) c.1405T>G (p.Phe469Val) | |
6 | g.129297838T= | CA1663102642 | LAMA2 | c.3010T= (p.Phe1004=) c.3274T= (p.Phe1092=) c.525T= c.3280T= (p.Phe1094=) c.1405T= (p.Phe469=) | |
6 | g.129297839T>A | CA365611236 | LAMA2 | c.3011T>A (p.Phe1004Tyr) c.3275T>A (p.Phe1092Tyr) c.526T>A c.3281T>A (p.Phe1094Tyr) c.1406T>A (p.Phe469Tyr) | |
6 | g.129297839T>C | CA365611237 | LAMA2 | c.3011T>C (p.Phe1004Ser) c.3275T>C (p.Phe1092Ser) c.526T>C c.3281T>C (p.Phe1094Ser) c.1406T>C (p.Phe469Ser) | |
6 | g.129297839T>G | CA365611238 | LAMA2 | c.3011T>G (p.Phe1004Cys) c.3275T>G (p.Phe1092Cys) c.526T>G c.3281T>G (p.Phe1094Cys) c.1406T>G (p.Phe469Cys) | |
6 | g.129297840C>A | CA365611239 | LAMA2 | c.3012C>A (p.Phe1004Leu) c.3276C>A (p.Phe1092Leu) c.527C>A c.3282C>A (p.Phe1094Leu) c.1407C>A (p.Phe469Leu) | |
6 | g.129297840C= | CA1663102646 | LAMA2 | c.3012C= (p.Phe1004=) c.3276C= (p.Phe1092=) c.527C= c.3282C= (p.Phe1094=) c.1407C= (p.Phe469=) | |
6 | g.129297840C>G | CA365611240 | LAMA2 | c.3012C>G (p.Phe1004Leu) c.3276C>G (p.Phe1092Leu) c.527C>G c.3282C>G (p.Phe1094Leu) c.1407C>G (p.Phe469Leu) | dbSNP gnomAD v4 |
6 | g.129297840C>T | CA451936186 | LAMA2 | c.3012C>T (p.Phe1004=) c.3276C>T (p.Phe1092=) c.527C>T c.3282C>T (p.Phe1094=) c.1407C>T (p.Phe469=) | ClinVar |
6 | g.129297841A>C | CA365611241 | LAMA2 | c.3013A>C (p.Asn1005His) c.3277A>C (p.Asn1093His) c.528A>C c.3283A>C (p.Asn1095His) c.1408A>C (p.Asn470His) | |
6 | g.129297841A>G | CA365611242 | LAMA2 | c.3013A>G (p.Asn1005Asp) c.3277A>G (p.Asn1093Asp) c.528A>G c.3283A>G (p.Asn1095Asp) c.1408A>G (p.Asn470Asp) | |
6 | g.129297841A>T | CA365611243 | LAMA2 | c.3013A>T (p.Asn1005Tyr) c.3277A>T (p.Asn1093Tyr) c.528A>T c.3283A>T (p.Asn1095Tyr) c.1408A>T (p.Asn470Tyr) | |
6 | g.129297842A= | CA1663102652 | LAMA2 | c.3014A= (p.Asn1005=) c.3278A= (p.Asn1093=) c.529A= c.3284A= (p.Asn1095=) c.1409A= (p.Asn470=) | |
6 | g.129297842A>C | CA365611245 | LAMA2 | c.3014A>C (p.Asn1005Thr) c.3278A>C (p.Asn1093Thr) c.529A>C c.3284A>C (p.Asn1095Thr) c.1409A>C (p.Asn470Thr) | gnomAD v4 |
6 | g.129297842A>G | CA3993129 | LAMA2 | c.3014A>G (p.Asn1005Ser) c.3278A>G (p.Asn1093Ser) c.529A>G c.3284A>G (p.Asn1095Ser) c.1409A>G (p.Asn470Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129297842A>T | CA365611244 | LAMA2 | c.3014A>T (p.Asn1005Ile) c.3278A>T (p.Asn1093Ile) c.529A>T c.3284A>T (p.Asn1095Ile) c.1409A>T (p.Asn470Ile) | |
6 | g.129297843C>A | CA365611247 | LAMA2 | c.3015C>A (p.Asn1005Lys) c.3279C>A (p.Asn1093Lys) c.530C>A c.3285C>A (p.Asn1095Lys) c.1410C>A (p.Asn470Lys) | dbSNP |
6 | g.129297843C= | CA1663102657 | LAMA2 | c.3015C= (p.Asn1005=) c.3279C= (p.Asn1093=) c.530C= c.3285C= (p.Asn1095=) c.1410C= (p.Asn470=) | |
6 | g.129297843C>G | CA365611246 | LAMA2 | c.3015C>G (p.Asn1005Lys) c.3279C>G (p.Asn1093Lys) c.530C>G c.3285C>G (p.Asn1095Lys) c.1410C>G (p.Asn470Lys) | |
6 | g.129297843C>T | CA451936187 | LAMA2 | c.3015C>T (p.Asn1005=) c.3279C>T (p.Asn1093=) c.530C>T c.3285C>T (p.Asn1095=) c.1410C>T (p.Asn470=) | gnomAD v4 |
6 | g.129297844T>A | CA365611248 | LAMA2 | c.3016T>A (p.Phe1006Ile) c.3280T>A (p.Phe1094Ile) c.531T>A c.3286T>A (p.Phe1096Ile) c.1411T>A (p.Phe471Ile) | |
6 | g.129297844T>C | CA365611249 | LAMA2 | c.3016T>C (p.Phe1006Leu) c.3280T>C (p.Phe1094Leu) c.531T>C c.3286T>C (p.Phe1096Leu) c.1411T>C (p.Phe471Leu) | |
6 | g.129297844T>G | CA365611250 | LAMA2 | c.3016T>G (p.Phe1006Val) c.3280T>G (p.Phe1094Val) c.531T>G c.3286T>G (p.Phe1096Val) c.1411T>G (p.Phe471Val) | |
6 | g.129297845T>A | CA365611251 | LAMA2 | c.3017T>A (p.Phe1006Tyr) c.3281T>A (p.Phe1094Tyr) c.532T>A c.3287T>A (p.Phe1096Tyr) c.1412T>A (p.Phe471Tyr) | |
6 | g.129297845T>C | CA365611252 | LAMA2 | c.3017T>C (p.Phe1006Ser) c.3281T>C (p.Phe1094Ser) c.532T>C c.3287T>C (p.Phe1096Ser) c.1412T>C (p.Phe471Ser) | |
6 | g.129297845T>G | CA365611253 | LAMA2 | c.3017T>G (p.Phe1006Cys) c.3281T>G (p.Phe1094Cys) c.532T>G c.3287T>G (p.Phe1096Cys) c.1412T>G (p.Phe471Cys) | |
6 | g.129297845_129297846delinsTC | CA1663102660 | LAMA2 | c.3017_3018delinsTC (p.Phe1006=) c.3281_3282delinsTC (p.Phe1094=) c.532_533delinsTC c.3287_3288delinsTC (p.Phe1096=) c.1412_1413delinsTC (p.Phe471=) | |
6 | g.129297846C>A | CA365611254 | LAMA2 | c.3018C>A (p.Phe1006Leu) c.3282C>A (p.Phe1094Leu) c.533C>A c.3288C>A (p.Phe1096Leu) c.1413C>A (p.Phe471Leu) | gnomAD v4 |
6 | g.129297846C>G | CA365611255 | LAMA2 | c.3018C>G (p.Phe1006Leu) c.3282C>G (p.Phe1094Leu) c.533C>G c.3288C>G (p.Phe1096Leu) c.1413C>G (p.Phe471Leu) | |
6 | g.129297846C>T | CA451936188 | LAMA2 | c.3018C>T (p.Phe1006=) c.3282C>T (p.Phe1094=) c.533C>T c.3288C>T (p.Phe1096=) c.1413C>T (p.Phe471=) | gnomAD v4 |
6 | g.129297847del | CA570205606 | LAMA2 | c.3019del (p.Gln1007LysfsTer?) c.3283del (p.Gln1095LysfsTer?) c.534del c.3289del (p.Gln1097LysfsTer?) c.1414del (p.Gln472LysfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.129297847C>A | CA365611256 | LAMA2 | c.3019C>A (p.Gln1007Lys) c.3283C>A (p.Gln1095Lys) c.534C>A c.3289C>A (p.Gln1097Lys) c.1414C>A (p.Gln472Lys) | |
6 | g.129297847C= | CA1663102669 | LAMA2 | c.3019C= (p.Gln1007=) c.3283C= (p.Gln1095=) c.534C= c.3289C= (p.Gln1097=) c.1414C= (p.Gln472=) | |
6 | g.129297847C>G | CA365611257 | LAMA2 | c.3019C>G (p.Gln1007Glu) c.3283C>G (p.Gln1095Glu) c.534C>G c.3289C>G (p.Gln1097Glu) c.1414C>G (p.Gln472Glu) | |
6 | g.129297847C>T | CA3993131 | LAMA2 | c.3019C>T (p.Gln1007Ter) c.3283C>T (p.Gln1095Ter) c.534C>T c.3289C>T (p.Gln1097Ter) c.1414C>T (p.Gln472Ter) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
6 | g.129297847_129297849delinsCAA | CA1663102675 | LAMA2 | c.3019_3021delinsCAA (p.Gln1007=) c.3283_3285delinsCAA (p.Gln1095=) c.534_536delinsCAA c.3289_3291delinsCAA (p.Gln1097=) c.1414_1416delinsCAA (p.Gln472=) | |
6 | g.129297847_129297850delinsCAAG | CA1663102668 | LAMA2 | c.3019_3022delinsCAAG (p.Gln1007=) c.3283_3286delinsCAAG (p.Gln1095=) c.534_537delinsCAAG c.3289_3292delinsCAAG (p.Gln1097=) c.1414_1417delinsCAAG (p.Gln472=) | |
6 | g.129297848A= | CA1663102685 | LAMA2 | c.3020A= (p.Gln1007=) c.3284A= (p.Gln1095=) c.535A= c.3290A= (p.Gln1097=) c.1415A= (p.Gln472=) | |
6 | g.129297848A>C | CA365611259 | LAMA2 | c.3020A>C (p.Gln1007Pro) c.3284A>C (p.Gln1095Pro) c.535A>C c.3290A>C (p.Gln1097Pro) c.1415A>C (p.Gln472Pro) | |
6 | g.129297848A>G | CA365611260 | LAMA2 | c.3020A>G (p.Gln1007Arg) c.3284A>G (p.Gln1095Arg) c.535A>G c.3290A>G (p.Gln1097Arg) c.1415A>G (p.Gln472Arg) | |
6 | g.129297848A>T | CA365611258 | LAMA2 | c.3020A>T (p.Gln1007Leu) c.3284A>T (p.Gln1095Leu) c.535A>T c.3290A>T (p.Gln1097Leu) c.1415A>T (p.Gln472Leu) | dbSNP gnomAD v4 |
6 | g.129297848_129297849del | CA3993130 | LAMA2 | c.3020_3021del (p.Gln1007ArgfsTer8) c.3284_3285del (p.Gln1095ArgfsTer8) c.535_536del c.3290_3291del (p.Gln1097ArgfsTer8) c.1415_1416del (p.Gln472ArgfsTer8) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129297851_129297853del | CA146900745 | LAMA2 | c.3023_3025del (p.Glu1008del) c.3287_3289del (p.Glu1096del) c.538_540del c.3293_3295del (p.Glu1098del) c.1418_1420del (p.Glu473del) | dbSNP |
6 | g.129297849A>C | CA365611261 | LAMA2 | c.3021A>C (p.Gln1007His) c.3285A>C (p.Gln1095His) c.536A>C c.3291A>C (p.Gln1097His) c.1416A>C (p.Gln472His) | gnomAD v4 |
6 | g.129297849A>G | CA451936189 | LAMA2 | c.3021A>G (p.Gln1007=) c.3285A>G (p.Gln1095=) c.536A>G c.3291A>G (p.Gln1097=) c.1416A>G (p.Gln472=) | |
6 | g.129297849A>T | CA365611262 | LAMA2 | c.3021A>T (p.Gln1007His) c.3285A>T (p.Gln1095His) c.536A>T c.3291A>T (p.Gln1097His) c.1416A>T (p.Gln472His) | |
6 | g.129297850G>A | CA365611263 | LAMA2 | c.3022G>A (p.Glu1008Lys) c.3286G>A (p.Glu1096Lys) c.537G>A c.3292G>A (p.Glu1098Lys) c.1417G>A (p.Glu473Lys) | gnomAD v4 |
6 | g.129297850G>C | CA365611264 | LAMA2 | c.3022G>C (p.Glu1008Gln) c.3286G>C (p.Glu1096Gln) c.537G>C c.3292G>C (p.Glu1098Gln) c.1417G>C (p.Glu473Gln) | |
6 | g.129297850G>T | CA365611265 | LAMA2 | c.3022G>T (p.Glu1008Ter) c.3286G>T (p.Glu1096Ter) c.537G>T c.3292G>T (p.Glu1098Ter) c.1417G>T (p.Glu473Ter) | |
6 | g.129297851A= | CA1663102686 | LAMA2 | c.3023A= (p.Glu1008=) c.3287A= (p.Glu1096=) c.538A= c.3293A= (p.Glu1098=) c.1418A= (p.Glu473=) | |
6 | g.129297851A>C | CA365611266 | LAMA2 | c.3023A>C (p.Glu1008Ala) c.3287A>C (p.Glu1096Ala) c.538A>C c.3293A>C (p.Glu1098Ala) c.1418A>C (p.Glu473Ala) | |
6 | g.129297851A>G | CA365611267 | LAMA2 | c.3023A>G (p.Glu1008Gly) c.3287A>G (p.Glu1096Gly) c.538A>G c.3293A>G (p.Glu1098Gly) c.1418A>G (p.Glu473Gly) | dbSNP |
6 | g.129297851A>T | CA365611268 | LAMA2 | c.3023A>T (p.Glu1008Val) c.3287A>T (p.Glu1096Val) c.538A>T c.3293A>T (p.Glu1098Val) c.1418A>T (p.Glu473Val) | |
6 | g.129297852A= | CA1663102689 | LAMA2 | c.3024A= (p.Glu1008=) c.3288A= (p.Glu1096=) c.539A= c.3294A= (p.Glu1098=) c.1419A= (p.Glu473=) | |
6 | g.129297852A>C | CA365611269 | LAMA2 | c.3024A>C (p.Glu1008Asp) c.3288A>C (p.Glu1096Asp) c.539A>C c.3294A>C (p.Glu1098Asp) c.1419A>C (p.Glu473Asp) | |
6 | g.129297852A>G | CA451936190 | LAMA2 | c.3024A>G (p.Glu1008=) c.3288A>G (p.Glu1096=) c.539A>G c.3294A>G (p.Glu1098=) c.1419A>G (p.Glu473=) | |
6 | g.129297852A>T | CA365611270 | LAMA2 | c.3024A>T (p.Glu1008Asp) c.3288A>T (p.Glu1096Asp) c.539A>T c.3294A>T (p.Glu1098Asp) c.1419A>T (p.Glu473Asp) | dbSNP gnomAD v4 |
6 | g.129297853G>A | CA365611271 | LAMA2 | c.3025G>A (p.Gly1009Arg) c.3289G>A (p.Gly1097Arg) c.540G>A c.3295G>A (p.Gly1099Arg) c.1420G>A (p.Gly474Arg) | |
6 | g.129297853G>C | CA365611272 | LAMA2 | c.3025G>C (p.Gly1009Arg) c.3289G>C (p.Gly1097Arg) c.540G>C c.3295G>C (p.Gly1099Arg) c.1420G>C (p.Gly474Arg) | |
6 | g.129297853G>T | CA365611273 | LAMA2 | c.3025G>T (p.Gly1009Ter) c.3289G>T (p.Gly1097Ter) c.540G>T c.3295G>T (p.Gly1099Ter) c.1420G>T (p.Gly474Ter) | |
6 | g.129297854G>A | CA365611274 | LAMA2 | c.3026G>A (p.Gly1009Glu) c.3290G>A (p.Gly1097Glu) c.541G>A c.3296G>A (p.Gly1099Glu) c.1421G>A (p.Gly474Glu) | COSMIC |
6 | g.129297854G>C | CA365611275 | LAMA2 | c.3026G>C (p.Gly1009Ala) c.3290G>C (p.Gly1097Ala) c.541G>C c.3296G>C (p.Gly1099Ala) c.1421G>C (p.Gly474Ala) | |
6 | g.129297854G= | CA1663102692 | LAMA2 | c.3026G= (p.Gly1009=) c.3290G= (p.Gly1097=) c.541G= c.3296G= (p.Gly1099=) c.1421G= (p.Gly474=) | |
6 | g.129297854G>T | CA3993132 | LAMA2 | c.3026G>T (p.Gly1009Val) c.3290G>T (p.Gly1097Val) c.541G>T c.3296G>T (p.Gly1099Val) c.1421G>T (p.Gly474Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.129297855A>C | CA451936191 | LAMA2 | c.3027A>C (p.Gly1009=) c.3291A>C (p.Gly1097=) c.542A>C c.3297A>C (p.Gly1099=) c.1422A>C (p.Gly474=) | |
6 | g.129297855A>G | CA451936192 | LAMA2 | c.3027A>G (p.Gly1009=) c.3291A>G (p.Gly1097=) c.542A>G c.3297A>G (p.Gly1099=) c.1422A>G (p.Gly474=) | ClinVar dbSNP |
6 | g.129297855A>T | CA451936193 | LAMA2 | c.3027A>T (p.Gly1009=) c.3291A>T (p.Gly1097=) c.542A>T c.3297A>T (p.Gly1099=) c.1422A>T (p.Gly474=) | |
6 | g.129297856G>A | CA365611276 | LAMA2 | c.3028G>A (p.Gly1010Ser) c.3292G>A (p.Gly1098Ser) c.543G>A c.3298G>A (p.Gly1100Ser) c.1423G>A (p.Gly475Ser) | ClinVar |
6 | g.129297856G>C | CA365611277 | LAMA2 | c.3028G>C (p.Gly1010Arg) c.3292G>C (p.Gly1098Arg) c.543G>C c.3298G>C (p.Gly1100Arg) c.1423G>C (p.Gly475Arg) | gnomAD v4 |
6 | g.129297856G>T | CA365611278 | LAMA2 | c.3028G>T (p.Gly1010Cys) c.3292G>T (p.Gly1098Cys) c.543G>T c.3298G>T (p.Gly1100Cys) c.1423G>T (p.Gly475Cys) | |
6 | g.129297857G>A | CA365611279 | LAMA2 | c.3029G>A (p.Gly1010Asp) c.3293G>A (p.Gly1098Asp) c.544G>A c.3299G>A (p.Gly1100Asp) c.1424G>A (p.Gly475Asp) | gnomAD v4 |
6 | g.129297857G>C | CA365611280 | LAMA2 | c.3029G>C (p.Gly1010Ala) c.3293G>C (p.Gly1098Ala) c.544G>C c.3299G>C (p.Gly1100Ala) c.1424G>C (p.Gly475Ala) | |
6 | g.129297857G= | CA1663102696 | LAMA2 | c.3029G= (p.Gly1010=) c.3293G= (p.Gly1098=) c.544G= c.3299G= (p.Gly1100=) c.1424G= (p.Gly475=) | |
6 | g.129297857G>T | CA365611281 | LAMA2 | c.3029G>T (p.Gly1010Val) c.3293G>T (p.Gly1098Val) c.544G>T c.3299G>T (p.Gly1100Val) c.1424G>T (p.Gly475Val) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.129297858C>A | CA3993133 | LAMA2 | c.3030C>A (p.Gly1010=) c.3294C>A (p.Gly1098=) c.545C>A c.3300C>A (p.Gly1100=) c.1425C>A (p.Gly475=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129297858C= | CA1663102697 | LAMA2 | c.3030C= (p.Gly1010=) c.3294C= (p.Gly1098=) c.545C= c.3300C= (p.Gly1100=) c.1425C= (p.Gly475=) | |
6 | g.129297858C>G | CA451936195 | LAMA2 | c.3030C>G (p.Gly1010=) c.3294C>G (p.Gly1098=) c.545C>G c.3300C>G (p.Gly1100=) c.1425C>G (p.Gly475=) | |
6 | g.129297858C>T | CA451936194 | LAMA2 | c.3030C>T (p.Gly1010=) c.3294C>T (p.Gly1098=) c.545C>T c.3300C>T (p.Gly1100=) c.1425C>T (p.Gly475=) | gnomAD v4 |
6 | g.129297859T>A | CA365611282 | LAMA2 | c.3031T>A (p.Cys1011Ser) c.3295T>A (p.Cys1099Ser) c.546T>A c.3301T>A (p.Cys1101Ser) c.1426T>A (p.Cys476Ser) | |
6 | g.129297859T>C | CA365611283 | LAMA2 | c.3031T>C (p.Cys1011Arg) c.3295T>C (p.Cys1099Arg) c.546T>C c.3301T>C (p.Cys1101Arg) c.1426T>C (p.Cys476Arg) | |
6 | g.129297859T>G | CA365611284 | LAMA2 | c.3031T>G (p.Cys1011Gly) c.3295T>G (p.Cys1099Gly) c.546T>G c.3301T>G (p.Cys1101Gly) c.1426T>G (p.Cys476Gly) | COSMIC |
6 | g.129297860G>A | CA365611285 | LAMA2 | c.3032G>A (p.Cys1011Tyr) c.3296G>A (p.Cys1099Tyr) c.547G>A c.3302G>A (p.Cys1101Tyr) c.1427G>A (p.Cys476Tyr) | COSMIC |
6 | g.129297860G>C | CA365611286 | LAMA2 | c.3032G>C (p.Cys1011Ser) c.3296G>C (p.Cys1099Ser) c.547G>C c.3302G>C (p.Cys1101Ser) c.1427G>C (p.Cys476Ser) | |
6 | g.129297860G>T | CA365611287 | LAMA2 | c.3032G>T (p.Cys1011Phe) c.3296G>T (p.Cys1099Phe) c.547G>T c.3302G>T (p.Cys1101Phe) c.1427G>T (p.Cys476Phe) | |
6 | g.129297861C>A | CA365611288 | LAMA2 | c.3033C>A (p.Cys1011Ter) c.3297C>A (p.Cys1099Ter) c.548C>A c.3303C>A (p.Cys1101Ter) c.1428C>A (p.Cys476Ter) | ClinVar gnomAD v4 |
6 | g.129297861C>G | CA365611289 | LAMA2 | c.3033C>G (p.Cys1011Trp) c.3297C>G (p.Cys1099Trp) c.548C>G c.3303C>G (p.Cys1101Trp) c.1428C>G (p.Cys476Trp) | |
6 | g.129297861C>T | CA451936196 | LAMA2 | c.3033C>T (p.Cys1011=) c.3297C>T (p.Cys1099=) c.548C>T c.3303C>T (p.Cys1101=) c.1428C>T (p.Cys476=) | ClinVar dbSNP |
6 | g.129297862A= | CA1663102700 | LAMA2 | c.3034A= (p.Thr1012=) c.3298A= (p.Thr1100=) c.549A= c.3304A= (p.Thr1102=) c.1429A= (p.Thr477=) | |
6 | g.129297862A>C | CA365611290 | LAMA2 | c.3034A>C (p.Thr1012Pro) c.3298A>C (p.Thr1100Pro) c.549A>C c.3304A>C (p.Thr1102Pro) c.1429A>C (p.Thr477Pro) | dbSNP gnomAD v4 |
6 | g.129297862A>G | CA365611291 | LAMA2 | c.3034A>G (p.Thr1012Ala) c.3298A>G (p.Thr1100Ala) c.549A>G c.3304A>G (p.Thr1102Ala) c.1429A>G (p.Thr477Ala) | |
6 | g.129297862A>T | CA365611292 | LAMA2 | c.3034A>T (p.Thr1012Ser) c.3298A>T (p.Thr1100Ser) c.549A>T c.3304A>T (p.Thr1102Ser) c.1429A>T (p.Thr477Ser) | |
6 | g.129297863C>A | CA365611293 | LAMA2 | c.3035C>A (p.Thr1012Lys) c.3299C>A (p.Thr1100Lys) c.550C>A c.3305C>A (p.Thr1102Lys) c.1430C>A (p.Thr477Lys) | |
6 | g.129297863C= | CA1663102706 | LAMA2 | c.3035C= (p.Thr1012=) c.3299C= (p.Thr1100=) c.550C= c.3305C= (p.Thr1102=) c.1430C= (p.Thr477=) | |
6 | g.129297863C>G | CA365611294 | LAMA2 | c.3035C>G (p.Thr1012Arg) c.3299C>G (p.Thr1100Arg) c.550C>G c.3305C>G (p.Thr1102Arg) c.1430C>G (p.Thr477Arg) | |
6 | g.129297863C>T | CA3993134 | LAMA2 | c.3035C>T (p.Thr1012Ile) c.3299C>T (p.Thr1100Ile) c.550C>T c.3305C>T (p.Thr1102Ile) c.1430C>T (p.Thr477Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129297864A>C | CA451936197 | LAMA2 | c.3036A>C (p.Thr1012=) c.3300A>C (p.Thr1100=) c.551A>C c.3306A>C (p.Thr1102=) c.1431A>C (p.Thr477=) | |
6 | g.129297864A>G | CA451936198 | LAMA2 | c.3036A>G (p.Thr1012=) c.3300A>G (p.Thr1100=) c.551A>G c.3306A>G (p.Thr1102=) c.1431A>G (p.Thr477=) | |
6 | g.129297864A>T | CA451936199 | LAMA2 | c.3036A>T (p.Thr1012=) c.3300A>T (p.Thr1100=) c.551A>T c.3306A>T (p.Thr1102=) c.1431A>T (p.Thr477=) | |
6 | g.129297865G>A | CA365611295 | LAMA2 | c.3037G>A (p.Ala1013Thr) c.3301G>A (p.Ala1101Thr) c.552G>A c.3307G>A (p.Ala1103Thr) c.1432G>A (p.Ala478Thr) | |
6 | g.129297865G>C | CA365611296 | LAMA2 | c.3037G>C (p.Ala1013Pro) c.3301G>C (p.Ala1101Pro) c.552G>C c.3307G>C (p.Ala1103Pro) c.1432G>C (p.Ala478Pro) | |
6 | g.129297865G>T | CA365611297 | LAMA2 | c.3037G>T (p.Ala1013Ser) c.3301G>T (p.Ala1101Ser) c.552G>T c.3307G>T (p.Ala1103Ser) c.1432G>T (p.Ala478Ser) | |
6 | g.129297866G>A | CA365611298 | LAMA2 | c.3037+1G>A (n.3037+1G>A) c.3301+1G>A (n.3301+1G>A) c.3307+1G>A (n.3307+1G>A) c.1432+1G>A (n.1432+1G>A) | ClinVar |
6 | g.129297866G>C | CA365611299 | LAMA2 | c.3037+1G>C (n.3037+1G>C) c.3301+1G>C (n.3301+1G>C) c.3307+1G>C (n.3307+1G>C) c.1432+1G>C (n.1432+1G>C) | |
6 | g.129297866G= | CA1663102716 | LAMA2 | c.3037+1G= (n.3037+1G=) c.3301+1G= (n.3301+1G=) c.3307+1G= (n.3307+1G=) c.1432+1G= (n.1432+1G=) | |
6 | g.129297866G>T | CA365611300 | LAMA2 | c.3037+1G>T (n.3037+1G>T) c.3301+1G>T (n.3301+1G>T) c.3307+1G>T (n.3307+1G>T) c.1432+1G>T (n.1432+1G>T) | ClinVar dbSNP gnomAD v4 |
6 | g.129297869_129297887del | CA2578737000 | LAMA2 | c.3037+4_3037+22del (n.3037+4_3037+22del) c.3301+4_3301+22del (n.3301+4_3301+22del) c.3307+4_3307+22del (n.3307+4_3307+22del) c.1432+4_1432+22del (n.1432+4_1432+22del) | gnomAD v4 |
6 | g.129297867T>A | CA365611302 | LAMA2 | c.3037+2T>A (n.3037+2T>A) c.3301+2T>A (n.3301+2T>A) c.3307+2T>A (n.3307+2T>A) c.1432+2T>A (n.1432+2T>A) | |
6 | g.129297867T>C | CA365611303 | LAMA2 | c.3037+2T>C (n.3037+2T>C) c.3301+2T>C (n.3301+2T>C) c.3307+2T>C (n.3307+2T>C) c.1432+2T>C (n.1432+2T>C) | |
6 | g.129297867T>G | CA365611301 | LAMA2 | c.3037+2T>G (n.3037+2T>G) c.3301+2T>G (n.3301+2T>G) c.3307+2T>G (n.3307+2T>G) c.1432+2T>G (n.1432+2T>G) | |
6 | g.129297870G>A | CA2573140458 | LAMA2 | c.3037+5G>A (n.3037+5G>A) c.3301+5G>A (n.3301+5G>A) c.3307+5G>A (n.3307+5G>A) c.1432+5G>A (n.1432+5G>A) | ClinVar dbSNP gnomAD v4 |
6 | g.129297870G>C | CA2573140459 | LAMA2 | c.3037+5G>C (n.3037+5G>C) c.3301+5G>C (n.3301+5G>C) c.3307+5G>C (n.3307+5G>C) c.1432+5G>C (n.1432+5G>C) | ClinVar dbSNP |