Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
6 | g.129297874A= | CA1663102722 | LAMA2 | c.3037+9A= (n.3037+9A=) c.3301+9A= (n.3301+9A=) c.3307+9A= (n.3307+9A=) c.1432+9A= (n.1432+9A=) | |
6 | g.129297874A>G | CA1663102724 | LAMA2 | c.3037+9A>G (n.3037+9A>G) c.3301+9A>G (n.3301+9A>G) c.3307+9A>G (n.3307+9A>G) c.1432+9A>G (n.1432+9A>G) | dbSNP |
6 | g.129297875T>C | CA3993135 | LAMA2 | c.3037+10T>C (n.3037+10T>C) c.3301+10T>C (n.3301+10T>C) c.3307+10T>C (n.3307+10T>C) c.1432+10T>C (n.1432+10T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.129297875T= | CA1663102731 | LAMA2 | c.3037+10T= (n.3037+10T=) c.3301+10T= (n.3301+10T=) c.3307+10T= (n.3307+10T=) c.1432+10T= (n.1432+10T=) | |
6 | g.129297877T>C | CA570051707 | LAMA2 | c.3037+12T>C (n.3037+12T>C) c.3301+12T>C (n.3301+12T>C) c.3307+12T>C (n.3307+12T>C) c.1432+12T>C (n.1432+12T>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.129297877T= | CA1663102739 | LAMA2 | c.3037+12T= (n.3037+12T=) c.3301+12T= (n.3301+12T=) c.3307+12T= (n.3307+12T=) c.1432+12T= (n.1432+12T=) | |
6 | g.129297878G>A | CA1663102748 | LAMA2 | c.3037+13G>A (n.3037+13G>A) c.3301+13G>A (n.3301+13G>A) c.3307+13G>A (n.3307+13G>A) c.1432+13G>A (n.1432+13G>A) | dbSNP |
6 | g.129297878G= | CA1663102745 | LAMA2 | c.3037+13G= (n.3037+13G=) c.3301+13G= (n.3301+13G=) c.3307+13G= (n.3307+13G=) c.1432+13G= (n.1432+13G=) | |
6 | g.129297878G>T | CA1663102749 | LAMA2 | c.3037+13G>T (n.3037+13G>T) c.3301+13G>T (n.3301+13G>T) c.3307+13G>T (n.3307+13G>T) c.1432+13G>T (n.1432+13G>T) | dbSNP gnomAD v4 |
6 | g.129297880C>A | CA2680313391 | LAMA2 | c.3037+15C>A (n.3037+15C>A) c.3301+15C>A (n.3301+15C>A) c.3307+15C>A (n.3307+15C>A) c.1432+15C>A (n.1432+15C>A) | gnomAD v4 |
6 | g.129297880C>T | CA2680313392 | LAMA2 | c.3037+15C>T (n.3037+15C>T) c.3301+15C>T (n.3301+15C>T) c.3307+15C>T (n.3307+15C>T) c.1432+15C>T (n.1432+15C>T) | gnomAD v4 |
6 | g.129297881T>G | CA2680313393 | LAMA2 | c.3037+16T>G (n.3037+16T>G) c.3301+16T>G (n.3301+16T>G) c.3307+16T>G (n.3307+16T>G) c.1432+16T>G (n.1432+16T>G) | gnomAD v4 |
6 | g.129297882T>G | CA2697553729 | LAMA2 | c.3037+17T>G (n.3037+17T>G) c.3301+17T>G (n.3301+17T>G) c.3307+17T>G (n.3307+17T>G) c.1432+17T>G (n.1432+17T>G) | ClinVar |
6 | g.129297883A= | CA1663102752 | LAMA2 | c.3037+18A= (n.3037+18A=) c.3301+18A= (n.3301+18A=) c.3307+18A= (n.3307+18A=) c.1432+18A= (n.1432+18A=) | |
6 | g.129297883A>G | CA3993136 | LAMA2 | c.3037+18A>G (n.3037+18A>G) c.3301+18A>G (n.3301+18A>G) c.3307+18A>G (n.3307+18A>G) c.1432+18A>G (n.1432+18A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.129297885G>A | CA2680313395 | LAMA2 | c.3037+20G>A (n.3037+20G>A) c.3301+20G>A (n.3301+20G>A) c.3307+20G>A (n.3307+20G>A) c.1432+20G>A (n.1432+20G>A) | gnomAD v4 |
6 | g.129297887C>A | CA2680313396 | LAMA2 | c.3037+22C>A (n.3037+22C>A) c.3301+22C>A (n.3301+22C>A) c.3307+22C>A (n.3307+22C>A) c.1432+22C>A (n.1432+22C>A) | gnomAD v4 |
6 | g.129297888C>A | CA570051708 | LAMA2 | c.3037+23C>A (n.3037+23C>A) c.3301+23C>A (n.3301+23C>A) c.3307+23C>A (n.3307+23C>A) c.1432+23C>A (n.1432+23C>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.129297888C= | CA1663102755 | LAMA2 | c.3037+23C= (n.3037+23C=) c.3301+23C= (n.3301+23C=) c.3307+23C= (n.3307+23C=) c.1432+23C= (n.1432+23C=) | |
6 | g.129297888C>T | CA2578737001 | LAMA2 | c.3037+23C>T (n.3037+23C>T) c.3301+23C>T (n.3301+23C>T) c.3307+23C>T (n.3307+23C>T) c.1432+23C>T (n.1432+23C>T) | |
6 | g.129297890A>T | CA2680313398 | LAMA2 | c.3037+25A>T (n.3037+25A>T) c.3301+25A>T (n.3301+25A>T) c.3307+25A>T (n.3307+25A>T) c.1432+25A>T (n.1432+25A>T) | gnomAD v4 |
6 | g.129297891C>A | CA2680313399 | LAMA2 | c.3037+26C>A (n.3037+26C>A) c.3301+26C>A (n.3301+26C>A) c.3307+26C>A (n.3307+26C>A) c.1432+26C>A (n.1432+26C>A) | gnomAD v4 |
6 | g.129297892A= | CA1663102763 | LAMA2 | c.3037+27A= (n.3037+27A=) c.3301+27A= (n.3301+27A=) c.3307+27A= (n.3307+27A=) c.1432+27A= (n.1432+27A=) | |
6 | g.129297892A>C | CA570051709 | LAMA2 | c.3037+27A>C (n.3037+27A>C) c.3301+27A>C (n.3301+27A>C) c.3307+27A>C (n.3307+27A>C) c.1432+27A>C (n.1432+27A>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.129297892A>G | CA2680313401 | LAMA2 | c.3037+27A>G (n.3037+27A>G) c.3301+27A>G (n.3301+27A>G) c.3307+27A>G (n.3307+27A>G) c.1432+27A>G (n.1432+27A>G) | gnomAD v4 |
6 | g.129297892A>T | CA3993137 | LAMA2 | c.3037+27A>T (n.3037+27A>T) c.3301+27A>T (n.3301+27A>T) c.3307+27A>T (n.3307+27A>T) c.1432+27A>T (n.1432+27A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129297893T>C | CA2680313404 | LAMA2 | c.3037+28T>C (n.3037+28T>C) c.3301+28T>C (n.3301+28T>C) c.3307+28T>C (n.3307+28T>C) c.1432+28T>C (n.1432+28T>C) | gnomAD v4 |
6 | g.129297893T= | CA1663102768 | LAMA2 | c.3037+28T= (n.3037+28T=) c.3301+28T= (n.3301+28T=) c.3307+28T= (n.3307+28T=) c.1432+28T= (n.1432+28T=) | |
6 | g.129297894A>G | CA2680313406 | LAMA2 | c.3037+29A>G (n.3037+29A>G) c.3301+29A>G (n.3301+29A>G) c.3307+29A>G (n.3307+29A>G) c.1432+29A>G (n.1432+29A>G) | gnomAD v4 |
6 | g.129297894dup | CA1663102774 | LAMA2 | c.3037+29dup (n.3037+29dup) c.3301+29dup (n.3301+29dup) c.3307+29dup (n.3307+29dup) c.1432+29dup (n.1432+29dup) | dbSNP |
6 | g.129297894_129297908delinsATTCACTCTGATAGT | CA1663102772 | LAMA2 | c.3037+29_3037+43delinsATTCACTCTGATAGT (n.3037+29_3037+43delinsATTCACTCTGATAGT) c.3301+29_3301+43delinsATTCACTCTGATAGT (n.3301+29_3301+43delinsATTCACTCTGATAGT) c.3307+29_3307+43delinsATTCACTCTGATAGT (n.3307+29_3307+43delinsATTCACTCTGATAGT) c.1432+29_1432+43delinsATTCACTCTGATAGT (n.1432+29_1432+43delinsATTCACTCTGATAGT) | |
6 | g.129297897_129297910del | CA570051710 | LAMA2 | c.3037+32_3037+45del (n.3037+32_3037+45del) c.3301+32_3301+45del (n.3301+32_3301+45del) c.3307+32_3307+45del (n.3307+32_3307+45del) c.1432+32_1432+45del (n.1432+32_1432+45del) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.129297896T>A | CA2680313408 | LAMA2 | c.3037+31T>A (n.3037+31T>A) c.3301+31T>A (n.3301+31T>A) c.3307+31T>A (n.3307+31T>A) c.1432+31T>A (n.1432+31T>A) | gnomAD v4 |
6 | g.129297897C>A | CA2680313409 | LAMA2 | c.3037+32C>A (n.3037+32C>A) c.3301+32C>A (n.3301+32C>A) c.3307+32C>A (n.3307+32C>A) c.1432+32C>A (n.1432+32C>A) | gnomAD v4 |
6 | g.129297898A= | CA1663102782 | LAMA2 | c.3037+33A= (n.3037+33A=) c.3301+33A= (n.3301+33A=) c.3307+33A= (n.3307+33A=) c.1432+33A= (n.1432+33A=) | |
6 | g.129297898A>T | CA570051711 | LAMA2 | c.3037+33A>T (n.3037+33A>T) c.3301+33A>T (n.3301+33A>T) c.3307+33A>T (n.3307+33A>T) c.1432+33A>T (n.1432+33A>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.129297898_129297900delinsACT | CA1663102781 | LAMA2 | c.3037+33_3037+35delinsACT (n.3037+33_3037+35delinsACT) c.3301+33_3301+35delinsACT (n.3301+33_3301+35delinsACT) c.3307+33_3307+35delinsACT (n.3307+33_3307+35delinsACT) c.1432+33_1432+35delinsACT (n.1432+33_1432+35delinsACT) | |
6 | g.129297899C>A | CA2680313416 | LAMA2 | c.3037+34C>A (n.3037+34C>A) c.3301+34C>A (n.3301+34C>A) c.3307+34C>A (n.3307+34C>A) c.1432+34C>A (n.1432+34C>A) | gnomAD v4 |
6 | g.129297901_129297902del | CA3993138 | LAMA2 | c.3037+36_3037+37del (n.3037+36_3037+37del) c.3301+36_3301+37del (n.3301+36_3301+37del) c.3307+36_3307+37del (n.3307+36_3307+37del) c.1432+36_1432+37del (n.1432+36_1432+37del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.129297900T>C | CA570051712 | LAMA2 | c.3037+35T>C (n.3037+35T>C) c.3301+35T>C (n.3301+35T>C) c.3307+35T>C (n.3307+35T>C) c.1432+35T>C (n.1432+35T>C) | dbSNP gnomAD v2 |
6 | g.129297900T= | CA1663102786 | LAMA2 | c.3037+35T= (n.3037+35T=) c.3301+35T= (n.3301+35T=) c.3307+35T= (n.3307+35T=) c.1432+35T= (n.1432+35T=) | |
6 | g.129297901C>A | CA2680313419 | LAMA2 | c.3037+36C>A (n.3037+36C>A) c.3301+36C>A (n.3301+36C>A) c.3307+36C>A (n.3307+36C>A) c.1432+36C>A (n.1432+36C>A) | gnomAD v4 |
6 | g.129297901C= | CA1663102789 | LAMA2 | c.3037+36C= (n.3037+36C=) c.3301+36C= (n.3301+36C=) c.3307+36C= (n.3307+36C=) c.1432+36C= (n.1432+36C=) | |
6 | g.129297901C>G | CA570051713 | LAMA2 | c.3037+36C>G (n.3037+36C>G) c.3301+36C>G (n.3301+36C>G) c.3307+36C>G (n.3307+36C>G) c.1432+36C>G (n.1432+36C>G) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.129297902T>C | CA1094385092 | LAMA2 | c.3037+37T>C (n.3037+37T>C) c.3301+37T>C (n.3301+37T>C) c.3307+37T>C (n.3307+37T>C) c.1432+37T>C (n.1432+37T>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.129297902T= | CA1663102792 | LAMA2 | c.3037+37T= (n.3037+37T=) c.3301+37T= (n.3301+37T=) c.3307+37T= (n.3307+37T=) c.1432+37T= (n.1432+37T=) | |
6 | g.129297902_129297903insAAAACTATCA | CA2680313426 | LAMA2 | c.3037+37_3037+38insAAAACTATCA (n.3037+37_3037+38insAAAACTATCA) c.3301+37_3301+38insAAAACTATCA (n.3301+37_3301+38insAAAACTATCA) c.3307+37_3307+38insAAAACTATCA (n.3307+37_3307+38insAAAACTATCA) c.1432+37_1432+38insAAAACTATCA (n.1432+37_1432+38insAAAACTATCA) | gnomAD v4 |
6 | g.129297903G>A | CA1094385093 | LAMA2 | c.3037+38G>A (n.3037+38G>A) c.3301+38G>A (n.3301+38G>A) c.3307+38G>A (n.3307+38G>A) c.1432+38G>A (n.1432+38G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.129297903G= | CA1663102795 | LAMA2 | c.3037+38G= (n.3037+38G=) c.3301+38G= (n.3301+38G=) c.3307+38G= (n.3307+38G=) c.1432+38G= (n.1432+38G=) | |
6 | g.129297903G>T | CA2680313429 | LAMA2 | c.3037+38G>T (n.3037+38G>T) c.3301+38G>T (n.3301+38G>T) c.3307+38G>T (n.3307+38G>T) c.1432+38G>T (n.1432+38G>T) | gnomAD v4 |
6 | g.129297904A>G | CA2680313431 | LAMA2 | c.3037+39A>G (n.3037+39A>G) c.3301+39A>G (n.3301+39A>G) c.3307+39A>G (n.3307+39A>G) c.1432+39A>G (n.1432+39A>G) | gnomAD v4 |
6 | g.129297905T>C | CA2680313433 | LAMA2 | c.3037+40T>C (n.3037+40T>C) c.3301+40T>C (n.3301+40T>C) c.3307+40T>C (n.3307+40T>C) c.1432+40T>C (n.1432+40T>C) | gnomAD v4 |
6 | g.129297907G>C | CA3993139 | LAMA2 | c.3037+42G>C (n.3037+42G>C) c.3301+42G>C (n.3301+42G>C) c.3307+42G>C (n.3307+42G>C) c.1432+42G>C (n.1432+42G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.129297907G= | CA1663102796 | LAMA2 | c.3037+42G= (n.3037+42G=) c.3301+42G= (n.3301+42G=) c.3307+42G= (n.3307+42G=) c.1432+42G= (n.1432+42G=) | |
6 | g.129297911del | CA2578737002 | LAMA2 | c.3037+46del (n.3037+46del) c.3301+46del (n.3301+46del) c.3307+46del (n.3307+46del) c.1432+46del (n.1432+46del) | gnomAD v4 |
6 | g.129297911T>C | CA2680313436 | LAMA2 | c.3037+46T>C (n.3037+46T>C) c.3301+46T>C (n.3301+46T>C) c.3307+46T>C (n.3307+46T>C) c.1432+46T>C (n.1432+46T>C) | gnomAD v4 |
6 | g.129297912A= | CA1663102799 | LAMA2 | c.3037+47A= (n.3037+47A=) c.3301+47A= (n.3301+47A=) c.3307+47A= (n.3307+47A=) c.1432+47A= (n.1432+47A=) | |
6 | g.129297912A>G | CA2680313439 | LAMA2 | c.3037+47A>G (n.3037+47A>G) c.3301+47A>G (n.3301+47A>G) c.3307+47A>G (n.3307+47A>G) c.1432+47A>G (n.1432+47A>G) | gnomAD v4 |
6 | g.129297912_129297918delinsAGGGTCT | CA1663102798 | LAMA2 | c.3037+47_3037+53delinsAGGGTCT (n.3037+47_3037+53delinsAGGGTCT) c.3301+47_3301+53delinsAGGGTCT (n.3301+47_3301+53delinsAGGGTCT) c.3307+47_3307+53delinsAGGGTCT (n.3307+47_3307+53delinsAGGGTCT) c.1432+47_1432+53delinsAGGGTCT (n.1432+47_1432+53delinsAGGGTCT) | |
6 | g.129297913G>C | CA1663102807 | LAMA2 | c.3037+48G>C (n.3037+48G>C) c.3301+48G>C (n.3301+48G>C) c.3307+48G>C (n.3307+48G>C) c.1432+48G>C (n.1432+48G>C) | dbSNP gnomAD v4 |
6 | g.129297913G= | CA1663102804 | LAMA2 | c.3037+48G= (n.3037+48G=) c.3301+48G= (n.3301+48G=) c.3307+48G= (n.3307+48G=) c.1432+48G= (n.1432+48G=) | |
6 | g.129297913G>T | CA2680313444 | LAMA2 | c.3037+48G>T (n.3037+48G>T) c.3301+48G>T (n.3301+48G>T) c.3307+48G>T (n.3307+48G>T) c.1432+48G>T (n.1432+48G>T) | gnomAD v4 |
6 | g.129297913_129297916dup | CA570051714 | LAMA2 | c.3037+48_3037+51dup (n.3037+48_3037+51dup) c.3301+48_3301+51dup (n.3301+48_3301+51dup) c.3307+48_3307+51dup (n.3307+48_3307+51dup) c.1432+48_1432+51dup (n.1432+48_1432+51dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129297914_129297919del | CA3993140 | LAMA2 | c.3037+49_3037+54del (n.3037+49_3037+54del) c.3301+49_3301+54del (n.3301+49_3301+54del) c.3307+49_3307+54del (n.3307+49_3307+54del) c.1432+49_1432+54del (n.1432+49_1432+54del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.129297914G>A | CA3993141 | LAMA2 | c.3037+49G>A (n.3037+49G>A) c.3301+49G>A (n.3301+49G>A) c.3307+49G>A (n.3307+49G>A) c.1432+49G>A (n.1432+49G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129297914G>C | CA2581624445 | LAMA2 | c.3037+49G>C (n.3037+49G>C) c.3301+49G>C (n.3301+49G>C) c.3307+49G>C (n.3307+49G>C) c.1432+49G>C (n.1432+49G>C) | |
6 | g.129297914G= | CA1663102809 | LAMA2 | c.3037+49G= (n.3037+49G=) c.3301+49G= (n.3301+49G=) c.3307+49G= (n.3307+49G=) c.1432+49G= (n.1432+49G=) | |
6 | g.129297914G>T | CA2581624444 | LAMA2 | c.3037+49G>T (n.3037+49G>T) c.3301+49G>T (n.3301+49G>T) c.3307+49G>T (n.3307+49G>T) c.1432+49G>T (n.1432+49G>T) | gnomAD v4 |
6 | g.129297915G= | CA1663102810 | LAMA2 | c.3037+50G= (n.3037+50G=) c.3301+50G= (n.3301+50G=) c.3307+50G= (n.3307+50G=) c.1432+50G= (n.1432+50G=) | |
6 | g.129297915G>T | CA1663102811 | LAMA2 | c.3037+50G>T (n.3037+50G>T) c.3301+50G>T (n.3301+50G>T) c.3307+50G>T (n.3307+50G>T) c.1432+50G>T (n.1432+50G>T) | dbSNP gnomAD v4 |
6 | g.129297916T>A | CA3993142 | LAMA2 | c.3037+51T>A (n.3037+51T>A) c.3301+51T>A (n.3301+51T>A) c.3307+51T>A (n.3307+51T>A) c.1432+51T>A (n.1432+51T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129297916T>G | CA2680313448 | LAMA2 | c.3037+51T>G (n.3037+51T>G) c.3301+51T>G (n.3301+51T>G) c.3307+51T>G (n.3307+51T>G) c.1432+51T>G (n.1432+51T>G) | gnomAD v4 |
6 | g.129297916T= | CA1663102813 | LAMA2 | c.3037+51T= (n.3037+51T=) c.3301+51T= (n.3301+51T=) c.3307+51T= (n.3307+51T=) c.1432+51T= (n.1432+51T=) | |
6 | g.129297917C>A | CA2680313449 | LAMA2 | c.3037+52C>A (n.3037+52C>A) c.3301+52C>A (n.3301+52C>A) c.3307+52C>A (n.3307+52C>A) c.1432+52C>A (n.1432+52C>A) | gnomAD v4 |
6 | g.129297917C>G | CA2680313450 | LAMA2 | c.3037+52C>G (n.3037+52C>G) c.3301+52C>G (n.3301+52C>G) c.3307+52C>G (n.3307+52C>G) c.1432+52C>G (n.1432+52C>G) | gnomAD v4 |
6 | g.129297917C>T | CA2578737003 | LAMA2 | c.3037+52C>T (n.3037+52C>T) c.3301+52C>T (n.3301+52C>T) c.3307+52C>T (n.3307+52C>T) c.1432+52C>T (n.1432+52C>T) | gnomAD v4 |
6 | g.129297918T>A | CA2680313451 | LAMA2 | c.3037+53T>A (n.3037+53T>A) c.3301+53T>A (n.3301+53T>A) c.3307+53T>A (n.3307+53T>A) c.1432+53T>A (n.1432+53T>A) | gnomAD v4 |
6 | g.129297918T>G | CA2578737004 | LAMA2 | c.3037+53T>G (n.3037+53T>G) c.3301+53T>G (n.3301+53T>G) c.3307+53T>G (n.3307+53T>G) c.1432+53T>G (n.1432+53T>G) | |
6 | g.129297919G>C | CA2578737005 | LAMA2 | c.3037+54G>C (n.3037+54G>C) c.3301+54G>C (n.3301+54G>C) c.3307+54G>C (n.3307+54G>C) c.1432+54G>C (n.1432+54G>C) | |
6 | g.129297919G>T | CA2680313452 | LAMA2 | c.3037+54G>T (n.3037+54G>T) c.3301+54G>T (n.3301+54G>T) c.3307+54G>T (n.3307+54G>T) c.1432+54G>T (n.1432+54G>T) | gnomAD v4 |
6 | g.129297920A>G | CA2680313454 | LAMA2 | c.3037+55A>G (n.3037+55A>G) c.3301+55A>G (n.3301+55A>G) c.3307+55A>G (n.3307+55A>G) c.1432+55A>G (n.1432+55A>G) | gnomAD v4 |