WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23898739A= | CA2290322158 | LAMA3 | c.788A= (p.Asn263=) c.5615A= (p.Asn1872=) c.2507A= (p.Asn836=) n.3A= c.393A= n.193A= c.5642A= (p.Asn1881=) c.5633A= (p.Asn1878=) c.5624A= (p.Asn1875=) c.5510A= (p.Asn1837=) c.3494A= (p.Asn1165=) c.1184A= (p.Asn395=) n.5883A= | |
| 18 | g.23898739A>C | CA402046301 | LAMA3 | c.788A>C (p.Asn263Thr) c.5615A>C (p.Asn1872Thr) c.2507A>C (p.Asn836Thr) n.3A>C c.393A>C n.193A>C c.5642A>C (p.Asn1881Thr) c.5633A>C (p.Asn1878Thr) c.5624A>C (p.Asn1875Thr) c.5510A>C (p.Asn1837Thr) c.3494A>C (p.Asn1165Thr) c.1184A>C (p.Asn395Thr) n.5883A>C | |
| 18 | g.23898739A>G | CA402046302 | LAMA3 | c.788A>G (p.Asn263Ser) c.5615A>G (p.Asn1872Ser) c.2507A>G (p.Asn836Ser) n.3A>G c.393A>G n.193A>G c.5642A>G (p.Asn1881Ser) c.5633A>G (p.Asn1878Ser) c.5624A>G (p.Asn1875Ser) c.5510A>G (p.Asn1837Ser) c.3494A>G (p.Asn1165Ser) c.1184A>G (p.Asn395Ser) n.5883A>G | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23898739A>T | CA402046303 | LAMA3 | c.788A>T (p.Asn263Ile) c.5615A>T (p.Asn1872Ile) c.2507A>T (p.Asn836Ile) n.3A>T c.393A>T n.193A>T c.5642A>T (p.Asn1881Ile) c.5633A>T (p.Asn1878Ile) c.5624A>T (p.Asn1875Ile) c.5510A>T (p.Asn1837Ile) c.3494A>T (p.Asn1165Ile) c.1184A>T (p.Asn395Ile) n.5883A>T | |
| 18 | g.23898740T>A | CA402046304 | LAMA3 | c.789T>A (p.Asn263Lys) c.5616T>A (p.Asn1872Lys) c.2508T>A (p.Asn836Lys) n.4T>A c.394T>A n.194T>A c.5643T>A (p.Asn1881Lys) c.5634T>A (p.Asn1878Lys) c.5625T>A (p.Asn1875Lys) c.5511T>A (p.Asn1837Lys) c.3495T>A (p.Asn1165Lys) c.1185T>A (p.Asn395Lys) n.5884T>A | gnomAD v4 |
| 18 | g.23898740T>C | CA503331842 | LAMA3 | c.789T>C (p.Asn263=) c.5616T>C (p.Asn1872=) c.2508T>C (p.Asn836=) n.4T>C c.394T>C n.194T>C c.5643T>C (p.Asn1881=) c.5634T>C (p.Asn1878=) c.5625T>C (p.Asn1875=) c.5511T>C (p.Asn1837=) c.3495T>C (p.Asn1165=) c.1185T>C (p.Asn395=) n.5884T>C | gnomAD v4 |
| 18 | g.23898740T>G | CA402046305 | LAMA3 | c.789T>G (p.Asn263Lys) c.5616T>G (p.Asn1872Lys) c.2508T>G (p.Asn836Lys) n.4T>G c.394T>G n.194T>G c.5643T>G (p.Asn1881Lys) c.5634T>G (p.Asn1878Lys) c.5625T>G (p.Asn1875Lys) c.5511T>G (p.Asn1837Lys) c.3495T>G (p.Asn1165Lys) c.1185T>G (p.Asn395Lys) n.5884T>G | |
| 18 | g.23898741C>A | CA402046306 | LAMA3 | c.790C>A (p.Gln264Lys) c.5617C>A (p.Gln1873Lys) c.2509C>A (p.Gln837Lys) n.5C>A c.395C>A n.195C>A c.5644C>A (p.Gln1882Lys) c.5635C>A (p.Gln1879Lys) c.5626C>A (p.Gln1876Lys) c.5512C>A (p.Gln1838Lys) c.3496C>A (p.Gln1166Lys) c.1186C>A (p.Gln396Lys) n.5885C>A | gnomAD v4 |
| 18 | g.23898741C>G | CA402046307 | LAMA3 | c.790C>G (p.Gln264Glu) c.5617C>G (p.Gln1873Glu) c.2509C>G (p.Gln837Glu) n.5C>G c.395C>G n.195C>G c.5644C>G (p.Gln1882Glu) c.5635C>G (p.Gln1879Glu) c.5626C>G (p.Gln1876Glu) c.5512C>G (p.Gln1838Glu) c.3496C>G (p.Gln1166Glu) c.1186C>G (p.Gln396Glu) n.5885C>G | |
| 18 | g.23898741C>T | CA402046308 | LAMA3 | c.790C>T (p.Gln264Ter) c.5617C>T (p.Gln1873Ter) c.2509C>T (p.Gln837Ter) n.5C>T c.395C>T n.195C>T c.5644C>T (p.Gln1882Ter) c.5635C>T (p.Gln1879Ter) c.5626C>T (p.Gln1876Ter) c.5512C>T (p.Gln1838Ter) c.3496C>T (p.Gln1166Ter) c.1186C>T (p.Gln396Ter) n.5885C>T | |
| 18 | g.23898742A>C | CA402046309 | LAMA3 | c.791A>C (p.Gln264Pro) c.5618A>C (p.Gln1873Pro) c.2510A>C (p.Gln837Pro) n.6A>C c.396A>C n.196A>C c.5645A>C (p.Gln1882Pro) c.5636A>C (p.Gln1879Pro) c.5627A>C (p.Gln1876Pro) c.5513A>C (p.Gln1838Pro) c.3497A>C (p.Gln1166Pro) c.1187A>C (p.Gln396Pro) n.5886A>C | |
| 18 | g.23898742A>G | CA402046310 | LAMA3 | c.791A>G (p.Gln264Arg) c.5618A>G (p.Gln1873Arg) c.2510A>G (p.Gln837Arg) n.6A>G c.396A>G n.196A>G c.5645A>G (p.Gln1882Arg) c.5636A>G (p.Gln1879Arg) c.5627A>G (p.Gln1876Arg) c.5513A>G (p.Gln1838Arg) c.3497A>G (p.Gln1166Arg) c.1187A>G (p.Gln396Arg) n.5886A>G | gnomAD v4 |
| 18 | g.23898742A>T | CA402046311 | LAMA3 | c.791A>T (p.Gln264Leu) c.5618A>T (p.Gln1873Leu) c.2510A>T (p.Gln837Leu) n.6A>T c.396A>T n.196A>T c.5645A>T (p.Gln1882Leu) c.5636A>T (p.Gln1879Leu) c.5627A>T (p.Gln1876Leu) c.5513A>T (p.Gln1838Leu) c.3497A>T (p.Gln1166Leu) c.1187A>T (p.Gln396Leu) n.5886A>T | |
| 18 | g.23898743G>A | CA503331843 | LAMA3 | c.792G>A (p.Gln264=) c.5619G>A (p.Gln1873=) c.2511G>A (p.Gln837=) n.7G>A c.397G>A n.197G>A c.5646G>A (p.Gln1882=) c.5637G>A (p.Gln1879=) c.5628G>A (p.Gln1876=) c.5514G>A (p.Gln1838=) c.3498G>A (p.Gln1166=) c.1188G>A (p.Gln396=) n.5887G>A | |
| 18 | g.23898743G>C | CA402046312 | LAMA3 | c.792G>C (p.Gln264His) c.5619G>C (p.Gln1873His) c.2511G>C (p.Gln837His) n.7G>C c.397G>C n.197G>C c.5646G>C (p.Gln1882His) c.5637G>C (p.Gln1879His) c.5628G>C (p.Gln1876His) c.5514G>C (p.Gln1838His) c.3498G>C (p.Gln1166His) c.1188G>C (p.Gln396His) n.5887G>C | |
| 18 | g.23898743G>T | CA402046313 | LAMA3 | c.792G>T (p.Gln264His) c.5619G>T (p.Gln1873His) c.2511G>T (p.Gln837His) n.7G>T c.397G>T n.197G>T c.5646G>T (p.Gln1882His) c.5637G>T (p.Gln1879His) c.5628G>T (p.Gln1876His) c.5514G>T (p.Gln1838His) c.3498G>T (p.Gln1166His) c.1188G>T (p.Gln396His) n.5887G>T | |
| 18 | g.23898746_23898759del | CA2499225082 | LAMA3 | c.795_808del (p.Leu265PhefsTer19) c.5622_5635del (p.Leu1874PhefsTer19) c.2514_2527del (p.Leu838PhefsTer19) n.10_23del c.400_413del n.200_213del c.5649_5662del (p.Leu1883PhefsTer19) c.5640_5653del (p.Leu1880PhefsTer19) c.5631_5644del (p.Leu1877PhefsTer19) c.5517_5530del (p.Leu1839PhefsTer19) c.3501_3514del (p.Leu1167PhefsTer19) c.1191_1204del (p.Leu397PhefsTer19) n.5890_5903del | ClinVar dbSNP |
| 18 | g.23898744T>A | CA402046314 | LAMA3 | c.793T>A (p.Leu265Met) c.5620T>A (p.Leu1874Met) c.2512T>A (p.Leu838Met) n.8T>A c.398T>A n.198T>A c.5647T>A (p.Leu1883Met) c.5638T>A (p.Leu1880Met) c.5629T>A (p.Leu1877Met) c.5515T>A (p.Leu1839Met) c.3499T>A (p.Leu1167Met) c.1189T>A (p.Leu397Met) n.5888T>A | |
| 18 | g.23898744T>C | CA503331844 | LAMA3 | c.793T>C (p.Leu265=) c.5620T>C (p.Leu1874=) c.2512T>C (p.Leu838=) n.8T>C c.398T>C n.198T>C c.5647T>C (p.Leu1883=) c.5638T>C (p.Leu1880=) c.5629T>C (p.Leu1877=) c.5515T>C (p.Leu1839=) c.3499T>C (p.Leu1167=) c.1189T>C (p.Leu397=) n.5888T>C | gnomAD v4 |
| 18 | g.23898744T>G | CA402046315 | LAMA3 | c.793T>G (p.Leu265Val) c.5620T>G (p.Leu1874Val) c.2512T>G (p.Leu838Val) n.8T>G c.398T>G n.198T>G c.5647T>G (p.Leu1883Val) c.5638T>G (p.Leu1880Val) c.5629T>G (p.Leu1877Val) c.5515T>G (p.Leu1839Val) c.3499T>G (p.Leu1167Val) c.1189T>G (p.Leu397Val) n.5888T>G | |
| 18 | g.23898745T>A | CA402046316 | LAMA3 | c.794T>A (p.Leu265Ter) c.5621T>A (p.Leu1874Ter) c.2513T>A (p.Leu838Ter) n.9T>A c.399T>A n.199T>A c.5648T>A (p.Leu1883Ter) c.5639T>A (p.Leu1880Ter) c.5630T>A (p.Leu1877Ter) c.5516T>A (p.Leu1839Ter) c.3500T>A (p.Leu1167Ter) c.1190T>A (p.Leu397Ter) n.5889T>A | |
| 18 | g.23898745T>C | CA8916130 | LAMA3 | c.794T>C (p.Leu265Ser) c.5621T>C (p.Leu1874Ser) c.2513T>C (p.Leu838Ser) n.9T>C c.399T>C n.199T>C c.5648T>C (p.Leu1883Ser) c.5639T>C (p.Leu1880Ser) c.5630T>C (p.Leu1877Ser) c.5516T>C (p.Leu1839Ser) c.3500T>C (p.Leu1167Ser) c.1190T>C (p.Leu397Ser) n.5889T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23898745T>G | CA402046317 | LAMA3 | c.794T>G (p.Leu265Trp) c.5621T>G (p.Leu1874Trp) c.2513T>G (p.Leu838Trp) n.9T>G c.399T>G n.199T>G c.5648T>G (p.Leu1883Trp) c.5639T>G (p.Leu1880Trp) c.5630T>G (p.Leu1877Trp) c.5516T>G (p.Leu1839Trp) c.3500T>G (p.Leu1167Trp) c.1190T>G (p.Leu397Trp) n.5889T>G | |
| 18 | g.23898745T= | CA2290322159 | LAMA3 | c.794T= (p.Leu265=) c.5621T= (p.Leu1874=) c.2513T= (p.Leu838=) n.9T= c.399T= n.199T= c.5648T= (p.Leu1883=) c.5639T= (p.Leu1880=) c.5630T= (p.Leu1877=) c.5516T= (p.Leu1839=) c.3500T= (p.Leu1167=) c.1190T= (p.Leu397=) n.5889T= | |
| 18 | g.23898746G>A | CA503331845 | LAMA3 | c.795G>A (p.Leu265=) c.5622G>A (p.Leu1874=) c.2514G>A (p.Leu838=) n.10G>A c.400G>A n.200G>A c.5649G>A (p.Leu1883=) c.5640G>A (p.Leu1880=) c.5631G>A (p.Leu1877=) c.5517G>A (p.Leu1839=) c.3501G>A (p.Leu1167=) c.1191G>A (p.Leu397=) n.5890G>A | gnomAD v4 |
| 18 | g.23898746G>C | CA402046318 | LAMA3 | c.795G>C (p.Leu265Phe) c.5622G>C (p.Leu1874Phe) c.2514G>C (p.Leu838Phe) n.10G>C c.400G>C n.200G>C c.5649G>C (p.Leu1883Phe) c.5640G>C (p.Leu1880Phe) c.5631G>C (p.Leu1877Phe) c.5517G>C (p.Leu1839Phe) c.3501G>C (p.Leu1167Phe) c.1191G>C (p.Leu397Phe) n.5890G>C | |
| 18 | g.23898746G>T | CA402046319 | LAMA3 | c.795G>T (p.Leu265Phe) c.5622G>T (p.Leu1874Phe) c.2514G>T (p.Leu838Phe) n.10G>T c.400G>T n.200G>T c.5649G>T (p.Leu1883Phe) c.5640G>T (p.Leu1880Phe) c.5631G>T (p.Leu1877Phe) c.5517G>T (p.Leu1839Phe) c.3501G>T (p.Leu1167Phe) c.1191G>T (p.Leu397Phe) n.5890G>T | |
| 18 | g.23898747C>A | CA402046320 | LAMA3 | c.796C>A (p.Leu266Ile) c.5623C>A (p.Leu1875Ile) c.2515C>A (p.Leu839Ile) n.11C>A c.401C>A n.201C>A c.5650C>A (p.Leu1884Ile) c.5641C>A (p.Leu1881Ile) c.5632C>A (p.Leu1878Ile) c.5518C>A (p.Leu1840Ile) c.3502C>A (p.Leu1168Ile) c.1192C>A (p.Leu398Ile) n.5891C>A | gnomAD v4 |
| 18 | g.23898747C= | CA2290322160 | LAMA3 | c.796C= (p.Leu266=) c.5623C= (p.Leu1875=) c.2515C= (p.Leu839=) n.11C= c.401C= n.201C= c.5650C= (p.Leu1884=) c.5641C= (p.Leu1881=) c.5632C= (p.Leu1878=) c.5518C= (p.Leu1840=) c.3502C= (p.Leu1168=) c.1192C= (p.Leu398=) n.5891C= | |
| 18 | g.23898747C>G | CA402046321 | LAMA3 | c.796C>G (p.Leu266Val) c.5623C>G (p.Leu1875Val) c.2515C>G (p.Leu839Val) n.11C>G c.401C>G n.201C>G c.5650C>G (p.Leu1884Val) c.5641C>G (p.Leu1881Val) c.5632C>G (p.Leu1878Val) c.5518C>G (p.Leu1840Val) c.3502C>G (p.Leu1168Val) c.1192C>G (p.Leu398Val) n.5891C>G | gnomAD v4 |
| 18 | g.23898747C>T | CA8916131 | LAMA3 | c.796C>T (p.Leu266Phe) c.5623C>T (p.Leu1875Phe) c.2515C>T (p.Leu839Phe) n.11C>T c.401C>T n.201C>T c.5650C>T (p.Leu1884Phe) c.5641C>T (p.Leu1881Phe) c.5632C>T (p.Leu1878Phe) c.5518C>T (p.Leu1840Phe) c.3502C>T (p.Leu1168Phe) c.1192C>T (p.Leu398Phe) n.5891C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23898748T>A | CA8916132 | LAMA3 | c.797T>A (p.Leu266His) c.5624T>A (p.Leu1875His) c.2516T>A (p.Leu839His) n.12T>A c.402T>A n.202T>A c.5651T>A (p.Leu1884His) c.5642T>A (p.Leu1881His) c.5633T>A (p.Leu1878His) c.5519T>A (p.Leu1840His) c.3503T>A (p.Leu1168His) c.1193T>A (p.Leu398His) n.5892T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23898748T>C | CA402046322 | LAMA3 | c.797T>C (p.Leu266Pro) c.5624T>C (p.Leu1875Pro) c.2516T>C (p.Leu839Pro) n.12T>C c.402T>C n.202T>C c.5651T>C (p.Leu1884Pro) c.5642T>C (p.Leu1881Pro) c.5633T>C (p.Leu1878Pro) c.5519T>C (p.Leu1840Pro) c.3503T>C (p.Leu1168Pro) c.1193T>C (p.Leu398Pro) n.5892T>C | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23898748T>G | CA402046323 | LAMA3 | c.797T>G (p.Leu266Arg) c.5624T>G (p.Leu1875Arg) c.2516T>G (p.Leu839Arg) n.12T>G c.402T>G n.202T>G c.5651T>G (p.Leu1884Arg) c.5642T>G (p.Leu1881Arg) c.5633T>G (p.Leu1878Arg) c.5519T>G (p.Leu1840Arg) c.3503T>G (p.Leu1168Arg) c.1193T>G (p.Leu398Arg) n.5892T>G | |
| 18 | g.23898748T= | CA2290322161 | LAMA3 | c.797T= (p.Leu266=) c.5624T= (p.Leu1875=) c.2516T= (p.Leu839=) n.12T= c.402T= n.202T= c.5651T= (p.Leu1884=) c.5642T= (p.Leu1881=) c.5633T= (p.Leu1878=) c.5519T= (p.Leu1840=) c.3503T= (p.Leu1168=) c.1193T= (p.Leu398=) n.5892T= | |
| 18 | g.23898749C>A | CA503331846 | LAMA3 | c.798C>A (p.Leu266=) c.5625C>A (p.Leu1875=) c.2517C>A (p.Leu839=) n.13C>A c.403C>A n.203C>A c.5652C>A (p.Leu1884=) c.5643C>A (p.Leu1881=) c.5634C>A (p.Leu1878=) c.5520C>A (p.Leu1840=) c.3504C>A (p.Leu1168=) c.1194C>A (p.Leu398=) n.5893C>A | gnomAD v4 |
| 18 | g.23898749C= | CA2290322162 | LAMA3 | c.798C= (p.Leu266=) c.5625C= (p.Leu1875=) c.2517C= (p.Leu839=) n.13C= c.403C= n.203C= c.5652C= (p.Leu1884=) c.5643C= (p.Leu1881=) c.5634C= (p.Leu1878=) c.5520C= (p.Leu1840=) c.3504C= (p.Leu1168=) c.1194C= (p.Leu398=) n.5893C= | |
| 18 | g.23898749C>G | CA503331847 | LAMA3 | c.798C>G (p.Leu266=) c.5625C>G (p.Leu1875=) c.2517C>G (p.Leu839=) n.13C>G c.403C>G n.203C>G c.5652C>G (p.Leu1884=) c.5643C>G (p.Leu1881=) c.5634C>G (p.Leu1878=) c.5520C>G (p.Leu1840=) c.3504C>G (p.Leu1168=) c.1194C>G (p.Leu398=) n.5893C>G | |
| 18 | g.23898749C>T | CA503331848 | LAMA3 | c.798C>T (p.Leu266=) c.5625C>T (p.Leu1875=) c.2517C>T (p.Leu839=) n.13C>T c.403C>T n.203C>T c.5652C>T (p.Leu1884=) c.5643C>T (p.Leu1881=) c.5634C>T (p.Leu1878=) c.5520C>T (p.Leu1840=) c.3504C>T (p.Leu1168=) c.1194C>T (p.Leu398=) n.5893C>T | ClinVar dbSNP gnomAD v4 |
| 18 | g.23898749_23898750del | CA2576553374 | LAMA3 | c.798_799del (p.Asn267LeufsTer21) c.5625_5626del (p.Asn1876LeufsTer21) c.2517_2518del (p.Asn840LeufsTer21) n.13_14del c.403_404del n.203_204del c.5652_5653del (p.Asn1885LeufsTer21) c.5643_5644del (p.Asn1882LeufsTer21) c.5634_5635del (p.Asn1879LeufsTer21) c.5520_5521del (p.Asn1841LeufsTer21) c.3504_3505del (p.Asn1169LeufsTer21) c.1194_1195del (p.Asn399LeufsTer21) n.5893_5894del | |
| 18 | g.23898750A>C | CA402046324 | LAMA3 | c.799A>C (p.Asn267His) c.5626A>C (p.Asn1876His) c.2518A>C (p.Asn840His) n.14A>C c.404A>C n.204A>C c.5653A>C (p.Asn1885His) c.5644A>C (p.Asn1882His) c.5635A>C (p.Asn1879His) c.5521A>C (p.Asn1841His) c.3505A>C (p.Asn1169His) c.1195A>C (p.Asn399His) n.5894A>C | |
| 18 | g.23898750A>G | CA402046325 | LAMA3 | c.799A>G (p.Asn267Asp) c.5626A>G (p.Asn1876Asp) c.2518A>G (p.Asn840Asp) n.14A>G c.404A>G n.204A>G c.5653A>G (p.Asn1885Asp) c.5644A>G (p.Asn1882Asp) c.5635A>G (p.Asn1879Asp) c.5521A>G (p.Asn1841Asp) c.3505A>G (p.Asn1169Asp) c.1195A>G (p.Asn399Asp) n.5894A>G | |
| 18 | g.23898750A>T | CA402046326 | LAMA3 | c.799A>T (p.Asn267Tyr) c.5626A>T (p.Asn1876Tyr) c.2518A>T (p.Asn840Tyr) n.14A>T c.404A>T n.204A>T c.5653A>T (p.Asn1885Tyr) c.5644A>T (p.Asn1882Tyr) c.5635A>T (p.Asn1879Tyr) c.5521A>T (p.Asn1841Tyr) c.3505A>T (p.Asn1169Tyr) c.1195A>T (p.Asn399Tyr) n.5894A>T | |
| 18 | g.23898751A>C | CA402046327 | LAMA3 | c.800A>C (p.Asn267Thr) c.5627A>C (p.Asn1876Thr) c.2519A>C (p.Asn840Thr) n.15A>C c.405A>C n.205A>C c.5654A>C (p.Asn1885Thr) c.5645A>C (p.Asn1882Thr) c.5636A>C (p.Asn1879Thr) c.5522A>C (p.Asn1841Thr) c.3506A>C (p.Asn1169Thr) c.1196A>C (p.Asn399Thr) n.5895A>C | |
| 18 | g.23898751A>G | CA402046328 | LAMA3 | c.800A>G (p.Asn267Ser) c.5627A>G (p.Asn1876Ser) c.2519A>G (p.Asn840Ser) n.15A>G c.405A>G n.205A>G c.5654A>G (p.Asn1885Ser) c.5645A>G (p.Asn1882Ser) c.5636A>G (p.Asn1879Ser) c.5522A>G (p.Asn1841Ser) c.3506A>G (p.Asn1169Ser) c.1196A>G (p.Asn399Ser) n.5895A>G | |
| 18 | g.23898751A>T | CA402046329 | LAMA3 | c.800A>T (p.Asn267Ile) c.5627A>T (p.Asn1876Ile) c.2519A>T (p.Asn840Ile) n.15A>T c.405A>T n.205A>T c.5654A>T (p.Asn1885Ile) c.5645A>T (p.Asn1882Ile) c.5636A>T (p.Asn1879Ile) c.5522A>T (p.Asn1841Ile) c.3506A>T (p.Asn1169Ile) c.1196A>T (p.Asn399Ile) n.5895A>T | |
| 18 | g.23898752C>A | CA402046330 | LAMA3 | c.801C>A (p.Asn267Lys) c.5628C>A (p.Asn1876Lys) c.2520C>A (p.Asn840Lys) n.16C>A c.406C>A n.206C>A c.5655C>A (p.Asn1885Lys) c.5646C>A (p.Asn1882Lys) c.5637C>A (p.Asn1879Lys) c.5523C>A (p.Asn1841Lys) c.3507C>A (p.Asn1169Lys) c.1197C>A (p.Asn399Lys) n.5896C>A | gnomAD v4 |
| 18 | g.23898752C>G | CA402046331 | LAMA3 | c.801C>G (p.Asn267Lys) c.5628C>G (p.Asn1876Lys) c.2520C>G (p.Asn840Lys) n.16C>G c.406C>G n.206C>G c.5655C>G (p.Asn1885Lys) c.5646C>G (p.Asn1882Lys) c.5637C>G (p.Asn1879Lys) c.5523C>G (p.Asn1841Lys) c.3507C>G (p.Asn1169Lys) c.1197C>G (p.Asn399Lys) n.5896C>G | |
| 18 | g.23898752C>T | CA503331849 | LAMA3 | c.801C>T (p.Asn267=) c.5628C>T (p.Asn1876=) c.2520C>T (p.Asn840=) n.16C>T c.406C>T n.206C>T c.5655C>T (p.Asn1885=) c.5646C>T (p.Asn1882=) c.5637C>T (p.Asn1879=) c.5523C>T (p.Asn1841=) c.3507C>T (p.Asn1169=) c.1197C>T (p.Asn399=) n.5896C>T | |
| 18 | g.23898753T>A | CA402046334 | LAMA3 | c.802T>A (p.Tyr268Asn) c.5629T>A (p.Tyr1877Asn) c.2521T>A (p.Tyr841Asn) n.17T>A c.407T>A n.207T>A c.5656T>A (p.Tyr1886Asn) c.5647T>A (p.Tyr1883Asn) c.5638T>A (p.Tyr1880Asn) c.5524T>A (p.Tyr1842Asn) c.3508T>A (p.Tyr1170Asn) c.1198T>A (p.Tyr400Asn) n.5897T>A |