UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23931128C>A | CA402064715 | LAMA3 | c.3676C>A (p.Pro1226Thr) c.8503C>A (p.Pro2835Thr) c.5098C>A (p.Pro1700Thr) c.8335C>A (p.Pro2779Thr) c.3281C>A c.3508C>A (p.Pro1170Thr) c.208C>A (p.Pro70Thr) n.3081C>A c.8530C>A (p.Pro2844Thr) c.8521C>A (p.Pro2841Thr) c.8512C>A (p.Pro2838Thr) c.8398C>A (p.Pro2800Thr) c.8233C>A (p.Pro2745Thr) c.6382C>A (p.Pro2128Thr) c.4072C>A (p.Pro1358Thr) n.8771C>A | |
| 18 | g.23931128C= | CA2290335742 | LAMA3 | c.3676C= (p.Pro1226=) c.8503C= (p.Pro2835=) c.5098C= (p.Pro1700=) c.8335C= (p.Pro2779=) c.3281C= c.3508C= (p.Pro1170=) c.208C= (p.Pro70=) n.3081C= c.8530C= (p.Pro2844=) c.8521C= (p.Pro2841=) c.8512C= (p.Pro2838=) c.8398C= (p.Pro2800=) c.8233C= (p.Pro2745=) c.6382C= (p.Pro2128=) c.4072C= (p.Pro1358=) n.8771C= | |
| 18 | g.23931128C>G | CA402064716 | LAMA3 | c.3676C>G (p.Pro1226Ala) c.8503C>G (p.Pro2835Ala) c.5098C>G (p.Pro1700Ala) c.8335C>G (p.Pro2779Ala) c.3281C>G c.3508C>G (p.Pro1170Ala) c.208C>G (p.Pro70Ala) n.3081C>G c.8530C>G (p.Pro2844Ala) c.8521C>G (p.Pro2841Ala) c.8512C>G (p.Pro2838Ala) c.8398C>G (p.Pro2800Ala) c.8233C>G (p.Pro2745Ala) c.6382C>G (p.Pro2128Ala) c.4072C>G (p.Pro1358Ala) n.8771C>G | |
| 18 | g.23931128C>T | CA402064713 | LAMA3 | c.3676C>T (p.Pro1226Ser) c.8503C>T (p.Pro2835Ser) c.5098C>T (p.Pro1700Ser) c.8335C>T (p.Pro2779Ser) c.3281C>T c.3508C>T (p.Pro1170Ser) c.208C>T (p.Pro70Ser) n.3081C>T c.8530C>T (p.Pro2844Ser) c.8521C>T (p.Pro2841Ser) c.8512C>T (p.Pro2838Ser) c.8398C>T (p.Pro2800Ser) c.8233C>T (p.Pro2745Ser) c.6382C>T (p.Pro2128Ser) c.4072C>T (p.Pro1358Ser) n.8771C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 18 | g.23931129C>A | CA402064719 | LAMA3 | c.3677C>A (p.Pro1226Gln) c.8504C>A (p.Pro2835Gln) c.5099C>A (p.Pro1700Gln) c.8336C>A (p.Pro2779Gln) c.3282C>A c.3509C>A (p.Pro1170Gln) c.209C>A (p.Pro70Gln) n.3082C>A c.8531C>A (p.Pro2844Gln) c.8522C>A (p.Pro2841Gln) c.8513C>A (p.Pro2838Gln) c.8399C>A (p.Pro2800Gln) c.8234C>A (p.Pro2745Gln) c.6383C>A (p.Pro2128Gln) c.4073C>A (p.Pro1358Gln) n.8772C>A | |
| 18 | g.23931129C= | CA2290335743 | LAMA3 | c.3677C= (p.Pro1226=) c.8504C= (p.Pro2835=) c.5099C= (p.Pro1700=) c.8336C= (p.Pro2779=) c.3282C= c.3509C= (p.Pro1170=) c.209C= (p.Pro70=) n.3082C= c.8531C= (p.Pro2844=) c.8522C= (p.Pro2841=) c.8513C= (p.Pro2838=) c.8399C= (p.Pro2800=) c.8234C= (p.Pro2745=) c.6383C= (p.Pro2128=) c.4073C= (p.Pro1358=) n.8772C= | |
| 18 | g.23931129C>G | CA402064722 | LAMA3 | c.3677C>G (p.Pro1226Arg) c.8504C>G (p.Pro2835Arg) c.5099C>G (p.Pro1700Arg) c.8336C>G (p.Pro2779Arg) c.3282C>G c.3509C>G (p.Pro1170Arg) c.209C>G (p.Pro70Arg) n.3082C>G c.8531C>G (p.Pro2844Arg) c.8522C>G (p.Pro2841Arg) c.8513C>G (p.Pro2838Arg) c.8399C>G (p.Pro2800Arg) c.8234C>G (p.Pro2745Arg) c.6383C>G (p.Pro2128Arg) c.4073C>G (p.Pro1358Arg) n.8772C>G | COSMIC COSMIC |
| 18 | g.23931129C>T | CA8916932 | LAMA3 | c.3677C>T (p.Pro1226Leu) c.8504C>T (p.Pro2835Leu) c.5099C>T (p.Pro1700Leu) c.8336C>T (p.Pro2779Leu) c.3282C>T c.3509C>T (p.Pro1170Leu) c.209C>T (p.Pro70Leu) n.3082C>T c.8531C>T (p.Pro2844Leu) c.8522C>T (p.Pro2841Leu) c.8513C>T (p.Pro2838Leu) c.8399C>T (p.Pro2800Leu) c.8234C>T (p.Pro2745Leu) c.6383C>T (p.Pro2128Leu) c.4073C>T (p.Pro1358Leu) n.8772C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23931130A= | CA2290335744 | LAMA3 | c.3678A= (p.Pro1226=) c.8505A= (p.Pro2835=) c.5100A= (p.Pro1700=) c.8337A= (p.Pro2779=) c.3283A= c.3510A= (p.Pro1170=) c.210A= (p.Pro70=) n.3083A= c.8532A= (p.Pro2844=) c.8523A= (p.Pro2841=) c.8514A= (p.Pro2838=) c.8400A= (p.Pro2800=) c.8235A= (p.Pro2745=) c.6384A= (p.Pro2128=) c.4074A= (p.Pro1358=) n.8773A= | |
| 18 | g.23931130A>C | CA8916933 | LAMA3 | c.3678A>C (p.Pro1226=) c.8505A>C (p.Pro2835=) c.5100A>C (p.Pro1700=) c.8337A>C (p.Pro2779=) c.3283A>C c.3510A>C (p.Pro1170=) c.210A>C (p.Pro70=) n.3083A>C c.8532A>C (p.Pro2844=) c.8523A>C (p.Pro2841=) c.8514A>C (p.Pro2838=) c.8400A>C (p.Pro2800=) c.8235A>C (p.Pro2745=) c.6384A>C (p.Pro2128=) c.4074A>C (p.Pro1358=) n.8773A>C | dbSNP ExAC gnomAD v2 |
| 18 | g.23931130A>G | CA503341174 | LAMA3 | c.3678A>G (p.Pro1226=) c.8505A>G (p.Pro2835=) c.5100A>G (p.Pro1700=) c.8337A>G (p.Pro2779=) c.3283A>G c.3510A>G (p.Pro1170=) c.210A>G (p.Pro70=) n.3083A>G c.8532A>G (p.Pro2844=) c.8523A>G (p.Pro2841=) c.8514A>G (p.Pro2838=) c.8400A>G (p.Pro2800=) c.8235A>G (p.Pro2745=) c.6384A>G (p.Pro2128=) c.4074A>G (p.Pro1358=) n.8773A>G | gnomAD v4 |
| 18 | g.23931130A>T | CA503341175 | LAMA3 | c.3678A>T (p.Pro1226=) c.8505A>T (p.Pro2835=) c.5100A>T (p.Pro1700=) c.8337A>T (p.Pro2779=) c.3283A>T c.3510A>T (p.Pro1170=) c.210A>T (p.Pro70=) n.3083A>T c.8532A>T (p.Pro2844=) c.8523A>T (p.Pro2841=) c.8514A>T (p.Pro2838=) c.8400A>T (p.Pro2800=) c.8235A>T (p.Pro2745=) c.6384A>T (p.Pro2128=) c.4074A>T (p.Pro1358=) n.8773A>T | |
| 18 | g.23931131A= | CA2290335745 | LAMA3 | c.3679A= (p.Ile1227=) c.8506A= (p.Ile2836=) c.5101A= (p.Ile1701=) c.8338A= (p.Ile2780=) c.3284A= c.3511A= (p.Ile1171=) c.211A= (p.Ile71=) n.3084A= c.8533A= (p.Ile2845=) c.8524A= (p.Ile2842=) c.8515A= (p.Ile2839=) c.8401A= (p.Ile2801=) c.8236A= (p.Ile2746=) c.6385A= (p.Ile2129=) c.4075A= (p.Ile1359=) n.8774A= | |
| 18 | g.23931131A>C | CA402064727 | LAMA3 | c.3679A>C (p.Ile1227Leu) c.8506A>C (p.Ile2836Leu) c.5101A>C (p.Ile1701Leu) c.8338A>C (p.Ile2780Leu) c.3284A>C c.3511A>C (p.Ile1171Leu) c.211A>C (p.Ile71Leu) n.3084A>C c.8533A>C (p.Ile2845Leu) c.8524A>C (p.Ile2842Leu) c.8515A>C (p.Ile2839Leu) c.8401A>C (p.Ile2801Leu) c.8236A>C (p.Ile2746Leu) c.6385A>C (p.Ile2129Leu) c.4075A>C (p.Ile1359Leu) n.8774A>C | dbSNP |
| 18 | g.23931131A>G | CA402064729 | LAMA3 | c.3679A>G (p.Ile1227Val) c.8506A>G (p.Ile2836Val) c.5101A>G (p.Ile1701Val) c.8338A>G (p.Ile2780Val) c.3284A>G c.3511A>G (p.Ile1171Val) c.211A>G (p.Ile71Val) n.3084A>G c.8533A>G (p.Ile2845Val) c.8524A>G (p.Ile2842Val) c.8515A>G (p.Ile2839Val) c.8401A>G (p.Ile2801Val) c.8236A>G (p.Ile2746Val) c.6385A>G (p.Ile2129Val) c.4075A>G (p.Ile1359Val) n.8774A>G | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23931131A>T | CA402064732 | LAMA3 | c.3679A>T (p.Ile1227Phe) c.8506A>T (p.Ile2836Phe) c.5101A>T (p.Ile1701Phe) c.8338A>T (p.Ile2780Phe) c.3284A>T c.3511A>T (p.Ile1171Phe) c.211A>T (p.Ile71Phe) n.3084A>T c.8533A>T (p.Ile2845Phe) c.8524A>T (p.Ile2842Phe) c.8515A>T (p.Ile2839Phe) c.8401A>T (p.Ile2801Phe) c.8236A>T (p.Ile2746Phe) c.6385A>T (p.Ile2129Phe) c.4075A>T (p.Ile1359Phe) n.8774A>T | |
| 18 | g.23931132T>A | CA402064736 | LAMA3 | c.3680T>A (p.Ile1227Asn) c.8507T>A (p.Ile2836Asn) c.5102T>A (p.Ile1701Asn) c.8339T>A (p.Ile2780Asn) c.3285T>A c.3512T>A (p.Ile1171Asn) c.212T>A (p.Ile71Asn) n.3085T>A c.8534T>A (p.Ile2845Asn) c.8525T>A (p.Ile2842Asn) c.8516T>A (p.Ile2839Asn) c.8402T>A (p.Ile2801Asn) c.8237T>A (p.Ile2746Asn) c.6386T>A (p.Ile2129Asn) c.4076T>A (p.Ile1359Asn) n.8775T>A | |
| 18 | g.23931132T>C | CA402064739 | LAMA3 | c.3680T>C (p.Ile1227Thr) c.8507T>C (p.Ile2836Thr) c.5102T>C (p.Ile1701Thr) c.8339T>C (p.Ile2780Thr) c.3285T>C c.3512T>C (p.Ile1171Thr) c.212T>C (p.Ile71Thr) n.3085T>C c.8534T>C (p.Ile2845Thr) c.8525T>C (p.Ile2842Thr) c.8516T>C (p.Ile2839Thr) c.8402T>C (p.Ile2801Thr) c.8237T>C (p.Ile2746Thr) c.6386T>C (p.Ile2129Thr) c.4076T>C (p.Ile1359Thr) n.8775T>C | |
| 18 | g.23931132T>G | CA402064742 | LAMA3 | c.3680T>G (p.Ile1227Ser) c.8507T>G (p.Ile2836Ser) c.5102T>G (p.Ile1701Ser) c.8339T>G (p.Ile2780Ser) c.3285T>G c.3512T>G (p.Ile1171Ser) c.212T>G (p.Ile71Ser) n.3085T>G c.8534T>G (p.Ile2845Ser) c.8525T>G (p.Ile2842Ser) c.8516T>G (p.Ile2839Ser) c.8402T>G (p.Ile2801Ser) c.8237T>G (p.Ile2746Ser) c.6386T>G (p.Ile2129Ser) c.4076T>G (p.Ile1359Ser) n.8775T>G | |
| 18 | g.23931133T>A | CA503341176 | LAMA3 | c.3681T>A (p.Ile1227=) c.8508T>A (p.Ile2836=) c.5103T>A (p.Ile1701=) c.8340T>A (p.Ile2780=) c.3286T>A c.3513T>A (p.Ile1171=) c.213T>A (p.Ile71=) n.3086T>A c.8535T>A (p.Ile2845=) c.8526T>A (p.Ile2842=) c.8517T>A (p.Ile2839=) c.8403T>A (p.Ile2801=) c.8238T>A (p.Ile2746=) c.6387T>A (p.Ile2129=) c.4077T>A (p.Ile1359=) n.8776T>A | |
| 18 | g.23931133T>C | CA503341177 | LAMA3 | c.3681T>C (p.Ile1227=) c.8508T>C (p.Ile2836=) c.5103T>C (p.Ile1701=) c.8340T>C (p.Ile2780=) c.3286T>C c.3513T>C (p.Ile1171=) c.213T>C (p.Ile71=) n.3086T>C c.8535T>C (p.Ile2845=) c.8526T>C (p.Ile2842=) c.8517T>C (p.Ile2839=) c.8403T>C (p.Ile2801=) c.8238T>C (p.Ile2746=) c.6387T>C (p.Ile2129=) c.4077T>C (p.Ile1359=) n.8776T>C | |
| 18 | g.23931133T>G | CA402064746 | LAMA3 | c.3681T>G (p.Ile1227Met) c.8508T>G (p.Ile2836Met) c.5103T>G (p.Ile1701Met) c.8340T>G (p.Ile2780Met) c.3286T>G c.3513T>G (p.Ile1171Met) c.213T>G (p.Ile71Met) n.3086T>G c.8535T>G (p.Ile2845Met) c.8526T>G (p.Ile2842Met) c.8517T>G (p.Ile2839Met) c.8403T>G (p.Ile2801Met) c.8238T>G (p.Ile2746Met) c.6387T>G (p.Ile2129Met) c.4077T>G (p.Ile1359Met) n.8776T>G | |
| 18 | g.23931134T>A | CA402064753 | LAMA3 | c.3682T>A (p.Phe1228Ile) c.8509T>A (p.Phe2837Ile) c.5104T>A (p.Phe1702Ile) c.8341T>A (p.Phe2781Ile) c.3287T>A c.3514T>A (p.Phe1172Ile) c.214T>A (p.Phe72Ile) n.3087T>A c.8536T>A (p.Phe2846Ile) c.8527T>A (p.Phe2843Ile) c.8518T>A (p.Phe2840Ile) c.8404T>A (p.Phe2802Ile) c.8239T>A (p.Phe2747Ile) c.6388T>A (p.Phe2130Ile) c.4078T>A (p.Phe1360Ile) n.8777T>A | |
| 18 | g.23931134T>C | CA402064756 | LAMA3 | c.3682T>C (p.Phe1228Leu) c.8509T>C (p.Phe2837Leu) c.5104T>C (p.Phe1702Leu) c.8341T>C (p.Phe2781Leu) c.3287T>C c.3514T>C (p.Phe1172Leu) c.214T>C (p.Phe72Leu) n.3087T>C c.8536T>C (p.Phe2846Leu) c.8527T>C (p.Phe2843Leu) c.8518T>C (p.Phe2840Leu) c.8404T>C (p.Phe2802Leu) c.8239T>C (p.Phe2747Leu) c.6388T>C (p.Phe2130Leu) c.4078T>C (p.Phe1360Leu) n.8777T>C | gnomAD v4 |
| 18 | g.23931134T>G | CA402064751 | LAMA3 | c.3682T>G (p.Phe1228Val) c.8509T>G (p.Phe2837Val) c.5104T>G (p.Phe1702Val) c.8341T>G (p.Phe2781Val) c.3287T>G c.3514T>G (p.Phe1172Val) c.214T>G (p.Phe72Val) n.3087T>G c.8536T>G (p.Phe2846Val) c.8527T>G (p.Phe2843Val) c.8518T>G (p.Phe2840Val) c.8404T>G (p.Phe2802Val) c.8239T>G (p.Phe2747Val) c.6388T>G (p.Phe2130Val) c.4078T>G (p.Phe1360Val) n.8777T>G | |
| 18 | g.23931135T>A | CA402064760 | LAMA3 | c.3683T>A (p.Phe1228Tyr) c.8510T>A (p.Phe2837Tyr) c.5105T>A (p.Phe1702Tyr) c.8342T>A (p.Phe2781Tyr) c.3288T>A c.3515T>A (p.Phe1172Tyr) c.215T>A (p.Phe72Tyr) n.3088T>A c.8537T>A (p.Phe2846Tyr) c.8528T>A (p.Phe2843Tyr) c.8519T>A (p.Phe2840Tyr) c.8405T>A (p.Phe2802Tyr) c.8240T>A (p.Phe2747Tyr) c.6389T>A (p.Phe2130Tyr) c.4079T>A (p.Phe1360Tyr) n.8778T>A | |
| 18 | g.23931135T>C | CA402064763 | LAMA3 | c.3683T>C (p.Phe1228Ser) c.8510T>C (p.Phe2837Ser) c.5105T>C (p.Phe1702Ser) c.8342T>C (p.Phe2781Ser) c.3288T>C c.3515T>C (p.Phe1172Ser) c.215T>C (p.Phe72Ser) n.3088T>C c.8537T>C (p.Phe2846Ser) c.8528T>C (p.Phe2843Ser) c.8519T>C (p.Phe2840Ser) c.8405T>C (p.Phe2802Ser) c.8240T>C (p.Phe2747Ser) c.6389T>C (p.Phe2130Ser) c.4079T>C (p.Phe1360Ser) n.8778T>C | |
| 18 | g.23931135T>G | CA402064766 | LAMA3 | c.3683T>G (p.Phe1228Cys) c.8510T>G (p.Phe2837Cys) c.5105T>G (p.Phe1702Cys) c.8342T>G (p.Phe2781Cys) c.3288T>G c.3515T>G (p.Phe1172Cys) c.215T>G (p.Phe72Cys) n.3088T>G c.8537T>G (p.Phe2846Cys) c.8528T>G (p.Phe2843Cys) c.8519T>G (p.Phe2840Cys) c.8405T>G (p.Phe2802Cys) c.8240T>G (p.Phe2747Cys) c.6389T>G (p.Phe2130Cys) c.4079T>G (p.Phe1360Cys) n.8778T>G | |
| 18 | g.23931136T>A | CA402064769 | LAMA3 | c.3684T>A (p.Phe1228Leu) c.8511T>A (p.Phe2837Leu) c.5106T>A (p.Phe1702Leu) c.8343T>A (p.Phe2781Leu) c.3289T>A c.3516T>A (p.Phe1172Leu) c.216T>A (p.Phe72Leu) n.3089T>A c.8538T>A (p.Phe2846Leu) c.8529T>A (p.Phe2843Leu) c.8520T>A (p.Phe2840Leu) c.8406T>A (p.Phe2802Leu) c.8241T>A (p.Phe2747Leu) c.6390T>A (p.Phe2130Leu) c.4080T>A (p.Phe1360Leu) n.8779T>A | |
| 18 | g.23931136T>C | CA503341178 | LAMA3 | c.3684T>C (p.Phe1228=) c.8511T>C (p.Phe2837=) c.5106T>C (p.Phe1702=) c.8343T>C (p.Phe2781=) c.3289T>C c.3516T>C (p.Phe1172=) c.216T>C (p.Phe72=) n.3089T>C c.8538T>C (p.Phe2846=) c.8529T>C (p.Phe2843=) c.8520T>C (p.Phe2840=) c.8406T>C (p.Phe2802=) c.8241T>C (p.Phe2747=) c.6390T>C (p.Phe2130=) c.4080T>C (p.Phe1360=) n.8779T>C | |
| 18 | g.23931136T>G | CA402064772 | LAMA3 | c.3684T>G (p.Phe1228Leu) c.8511T>G (p.Phe2837Leu) c.5106T>G (p.Phe1702Leu) c.8343T>G (p.Phe2781Leu) c.3289T>G c.3516T>G (p.Phe1172Leu) c.216T>G (p.Phe72Leu) n.3089T>G c.8538T>G (p.Phe2846Leu) c.8529T>G (p.Phe2843Leu) c.8520T>G (p.Phe2840Leu) c.8406T>G (p.Phe2802Leu) c.8241T>G (p.Phe2747Leu) c.6390T>G (p.Phe2130Leu) c.4080T>G (p.Phe1360Leu) n.8779T>G | |
| 18 | g.23931137A>C | CA402064782 | LAMA3 | c.3685A>C (p.Lys1229Gln) c.8512A>C (p.Lys2838Gln) c.5107A>C (p.Lys1703Gln) c.8344A>C (p.Lys2782Gln) c.3290A>C c.3517A>C (p.Lys1173Gln) c.217A>C (p.Lys73Gln) n.3090A>C c.8539A>C (p.Lys2847Gln) c.8530A>C (p.Lys2844Gln) c.8521A>C (p.Lys2841Gln) c.8407A>C (p.Lys2803Gln) c.8242A>C (p.Lys2748Gln) c.6391A>C (p.Lys2131Gln) c.4081A>C (p.Lys1361Gln) n.8780A>C | |
| 18 | g.23931137A>G | CA402064776 | LAMA3 | c.3685A>G (p.Lys1229Glu) c.8512A>G (p.Lys2838Glu) c.5107A>G (p.Lys1703Glu) c.8344A>G (p.Lys2782Glu) c.3290A>G c.3517A>G (p.Lys1173Glu) c.217A>G (p.Lys73Glu) n.3090A>G c.8539A>G (p.Lys2847Glu) c.8530A>G (p.Lys2844Glu) c.8521A>G (p.Lys2841Glu) c.8407A>G (p.Lys2803Glu) c.8242A>G (p.Lys2748Glu) c.6391A>G (p.Lys2131Glu) c.4081A>G (p.Lys1361Glu) n.8780A>G | |
| 18 | g.23931137A>T | CA402064779 | LAMA3 | c.3685A>T (p.Lys1229Ter) c.8512A>T (p.Lys2838Ter) c.5107A>T (p.Lys1703Ter) c.8344A>T (p.Lys2782Ter) c.3290A>T c.3517A>T (p.Lys1173Ter) c.217A>T (p.Lys73Ter) n.3090A>T c.8539A>T (p.Lys2847Ter) c.8530A>T (p.Lys2844Ter) c.8521A>T (p.Lys2841Ter) c.8407A>T (p.Lys2803Ter) c.8242A>T (p.Lys2748Ter) c.6391A>T (p.Lys2131Ter) c.4081A>T (p.Lys1361Ter) n.8780A>T | |
| 18 | g.23931138A>C | CA402064785 | LAMA3 | c.3686A>C (p.Lys1229Thr) c.8513A>C (p.Lys2838Thr) c.5108A>C (p.Lys1703Thr) c.8345A>C (p.Lys2782Thr) c.3291A>C c.3518A>C (p.Lys1173Thr) c.218A>C (p.Lys73Thr) n.3091A>C c.8540A>C (p.Lys2847Thr) c.8531A>C (p.Lys2844Thr) c.8522A>C (p.Lys2841Thr) c.8408A>C (p.Lys2803Thr) c.8243A>C (p.Lys2748Thr) c.6392A>C (p.Lys2131Thr) c.4082A>C (p.Lys1361Thr) n.8781A>C | |
| 18 | g.23931138A>G | CA402064788 | LAMA3 | c.3686A>G (p.Lys1229Arg) c.8513A>G (p.Lys2838Arg) c.5108A>G (p.Lys1703Arg) c.8345A>G (p.Lys2782Arg) c.3291A>G c.3518A>G (p.Lys1173Arg) c.218A>G (p.Lys73Arg) n.3091A>G c.8540A>G (p.Lys2847Arg) c.8531A>G (p.Lys2844Arg) c.8522A>G (p.Lys2841Arg) c.8408A>G (p.Lys2803Arg) c.8243A>G (p.Lys2748Arg) c.6392A>G (p.Lys2131Arg) c.4082A>G (p.Lys1361Arg) n.8781A>G | |
| 18 | g.23931138A>T | CA402064791 | LAMA3 | c.3686A>T (p.Lys1229Ile) c.8513A>T (p.Lys2838Ile) c.5108A>T (p.Lys1703Ile) c.8345A>T (p.Lys2782Ile) c.3291A>T c.3518A>T (p.Lys1173Ile) c.218A>T (p.Lys73Ile) n.3091A>T c.8540A>T (p.Lys2847Ile) c.8531A>T (p.Lys2844Ile) c.8522A>T (p.Lys2841Ile) c.8408A>T (p.Lys2803Ile) c.8243A>T (p.Lys2748Ile) c.6392A>T (p.Lys2131Ile) c.4082A>T (p.Lys1361Ile) n.8781A>T | |
| 18 | g.23931139A>C | CA402064793 | LAMA3 | c.3687A>C (p.Lys1229Asn) c.8514A>C (p.Lys2838Asn) c.5109A>C (p.Lys1703Asn) c.8346A>C (p.Lys2782Asn) c.3292A>C c.3519A>C (p.Lys1173Asn) c.219A>C (p.Lys73Asn) n.3092A>C c.8541A>C (p.Lys2847Asn) c.8532A>C (p.Lys2844Asn) c.8523A>C (p.Lys2841Asn) c.8409A>C (p.Lys2803Asn) c.8244A>C (p.Lys2748Asn) c.6393A>C (p.Lys2131Asn) c.4083A>C (p.Lys1361Asn) n.8782A>C | |
| 18 | g.23931139A>G | CA503341179 | LAMA3 | c.3687A>G (p.Lys1229=) c.8514A>G (p.Lys2838=) c.5109A>G (p.Lys1703=) c.8346A>G (p.Lys2782=) c.3292A>G c.3519A>G (p.Lys1173=) c.219A>G (p.Lys73=) n.3092A>G c.8541A>G (p.Lys2847=) c.8532A>G (p.Lys2844=) c.8523A>G (p.Lys2841=) c.8409A>G (p.Lys2803=) c.8244A>G (p.Lys2748=) c.6393A>G (p.Lys2131=) c.4083A>G (p.Lys1361=) n.8782A>G | |
| 18 | g.23931139A>T | CA402064797 | LAMA3 | c.3687A>T (p.Lys1229Asn) c.8514A>T (p.Lys2838Asn) c.5109A>T (p.Lys1703Asn) c.8346A>T (p.Lys2782Asn) c.3292A>T c.3519A>T (p.Lys1173Asn) c.219A>T (p.Lys73Asn) n.3092A>T c.8541A>T (p.Lys2847Asn) c.8532A>T (p.Lys2844Asn) c.8523A>T (p.Lys2841Asn) c.8409A>T (p.Lys2803Asn) c.8244A>T (p.Lys2748Asn) c.6393A>T (p.Lys2131Asn) c.4083A>T (p.Lys1361Asn) n.8782A>T | |
| 18 | g.23931140T>A | CA402064805 | LAMA3 | c.3688T>A (p.Ser1230Thr) c.8515T>A (p.Ser2839Thr) c.5110T>A (p.Ser1704Thr) c.8347T>A (p.Ser2783Thr) c.3293T>A c.3520T>A (p.Ser1174Thr) c.220T>A (p.Ser74Thr) n.3093T>A c.8542T>A (p.Ser2848Thr) c.8533T>A (p.Ser2845Thr) c.8524T>A (p.Ser2842Thr) c.8410T>A (p.Ser2804Thr) c.8245T>A (p.Ser2749Thr) c.6394T>A (p.Ser2132Thr) c.4084T>A (p.Ser1362Thr) n.8783T>A | |
| 18 | g.23931140T>C | CA402064802 | LAMA3 | c.3688T>C (p.Ser1230Pro) c.8515T>C (p.Ser2839Pro) c.5110T>C (p.Ser1704Pro) c.8347T>C (p.Ser2783Pro) c.3293T>C c.3520T>C (p.Ser1174Pro) c.220T>C (p.Ser74Pro) n.3093T>C c.8542T>C (p.Ser2848Pro) c.8533T>C (p.Ser2845Pro) c.8524T>C (p.Ser2842Pro) c.8410T>C (p.Ser2804Pro) c.8245T>C (p.Ser2749Pro) c.6394T>C (p.Ser2132Pro) c.4084T>C (p.Ser1362Pro) n.8783T>C | |
| 18 | g.23931140T>G | CA8916934 | LAMA3 | c.3688T>G (p.Ser1230Ala) c.8515T>G (p.Ser2839Ala) c.5110T>G (p.Ser1704Ala) c.8347T>G (p.Ser2783Ala) c.3293T>G c.3520T>G (p.Ser1174Ala) c.220T>G (p.Ser74Ala) n.3093T>G c.8542T>G (p.Ser2848Ala) c.8533T>G (p.Ser2845Ala) c.8524T>G (p.Ser2842Ala) c.8410T>G (p.Ser2804Ala) c.8245T>G (p.Ser2749Ala) c.6394T>G (p.Ser2132Ala) c.4084T>G (p.Ser1362Ala) n.8783T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23931140T= | CA2290335746 | LAMA3 | c.3688T= (p.Ser1230=) c.8515T= (p.Ser2839=) c.5110T= (p.Ser1704=) c.8347T= (p.Ser2783=) c.3293T= c.3520T= (p.Ser1174=) c.220T= (p.Ser74=) n.3093T= c.8542T= (p.Ser2848=) c.8533T= (p.Ser2845=) c.8524T= (p.Ser2842=) c.8410T= (p.Ser2804=) c.8245T= (p.Ser2749=) c.6394T= (p.Ser2132=) c.4084T= (p.Ser1362=) n.8783T= | |
| 18 | g.23931141C>A | CA402064809 | LAMA3 | c.3689C>A (p.Ser1230Tyr) c.8516C>A (p.Ser2839Tyr) c.5111C>A (p.Ser1704Tyr) c.8348C>A (p.Ser2783Tyr) c.3294C>A c.3521C>A (p.Ser1174Tyr) c.221C>A (p.Ser74Tyr) n.3094C>A c.8543C>A (p.Ser2848Tyr) c.8534C>A (p.Ser2845Tyr) c.8525C>A (p.Ser2842Tyr) c.8411C>A (p.Ser2804Tyr) c.8246C>A (p.Ser2749Tyr) c.6395C>A (p.Ser2132Tyr) c.4085C>A (p.Ser1362Tyr) n.8784C>A | gnomAD v4 |
| 18 | g.23931141C= | CA2290335747 | LAMA3 | c.3689C= (p.Ser1230=) c.8516C= (p.Ser2839=) c.5111C= (p.Ser1704=) c.8348C= (p.Ser2783=) c.3294C= c.3521C= (p.Ser1174=) c.221C= (p.Ser74=) n.3094C= c.8543C= (p.Ser2848=) c.8534C= (p.Ser2845=) c.8525C= (p.Ser2842=) c.8411C= (p.Ser2804=) c.8246C= (p.Ser2749=) c.6395C= (p.Ser2132=) c.4085C= (p.Ser1362=) n.8784C= | |
| 18 | g.23931141C>G | CA402064815 | LAMA3 | c.3689C>G (p.Ser1230Cys) c.8516C>G (p.Ser2839Cys) c.5111C>G (p.Ser1704Cys) c.8348C>G (p.Ser2783Cys) c.3294C>G c.3521C>G (p.Ser1174Cys) c.221C>G (p.Ser74Cys) n.3094C>G c.8543C>G (p.Ser2848Cys) c.8534C>G (p.Ser2845Cys) c.8525C>G (p.Ser2842Cys) c.8411C>G (p.Ser2804Cys) c.8246C>G (p.Ser2749Cys) c.6395C>G (p.Ser2132Cys) c.4085C>G (p.Ser1362Cys) n.8784C>G | |
| 18 | g.23931141C>T | CA402064812 | LAMA3 | c.3689C>T (p.Ser1230Phe) c.8516C>T (p.Ser2839Phe) c.5111C>T (p.Ser1704Phe) c.8348C>T (p.Ser2783Phe) c.3294C>T c.3521C>T (p.Ser1174Phe) c.221C>T (p.Ser74Phe) n.3094C>T c.8543C>T (p.Ser2848Phe) c.8534C>T (p.Ser2845Phe) c.8525C>T (p.Ser2842Phe) c.8411C>T (p.Ser2804Phe) c.8246C>T (p.Ser2749Phe) c.6395C>T (p.Ser2132Phe) c.4085C>T (p.Ser1362Phe) n.8784C>T | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23931142T>A | CA503341180 | LAMA3 | c.3690T>A (p.Ser1230=) c.8517T>A (p.Ser2839=) c.5112T>A (p.Ser1704=) c.8349T>A (p.Ser2783=) c.3295T>A c.3522T>A (p.Ser1174=) c.222T>A (p.Ser74=) n.3095T>A c.8544T>A (p.Ser2848=) c.8535T>A (p.Ser2845=) c.8526T>A (p.Ser2842=) c.8412T>A (p.Ser2804=) c.8247T>A (p.Ser2749=) c.6396T>A (p.Ser2132=) c.4086T>A (p.Ser1362=) n.8785T>A | |
| 18 | g.23931142T>C | CA503341181 | LAMA3 | c.3690T>C (p.Ser1230=) c.8517T>C (p.Ser2839=) c.5112T>C (p.Ser1704=) c.8349T>C (p.Ser2783=) c.3295T>C c.3522T>C (p.Ser1174=) c.222T>C (p.Ser74=) n.3095T>C c.8544T>C (p.Ser2848=) c.8535T>C (p.Ser2845=) c.8526T>C (p.Ser2842=) c.8412T>C (p.Ser2804=) c.8247T>C (p.Ser2749=) c.6396T>C (p.Ser2132=) c.4086T>C (p.Ser1362=) n.8785T>C | ClinVar dbSNP |