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 |
|---|---|---|---|---|---|
| 6 | g.129465268_129465269del | CA220801 | LAMA2 | c.7279_7280del (p.Leu2427ValfsTer17) c.7543_7544del (p.Leu2515ValfsTer17) n.910_911del c.7276_7277del (p.Leu2426ValfsTer17) c.7537_7538del (p.Leu2513ValfsTer17) c.7549_7550del (p.Leu2517ValfsTer17) c.5674_5675del (p.Leu1892ValfsTer17) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129465269_129465272del | CA2580074992 | LAMA2 | c.7280_7283del (p.Leu2427GlnfsTer12) c.7544_7547del (p.Leu2515GlnfsTer12) n.911_914del c.7277_7280del (p.Leu2426GlnfsTer12) c.7538_7541del (p.Leu2513GlnfsTer12) c.7550_7553del (p.Leu2517GlnfsTer12) c.5675_5678del (p.Leu1892GlnfsTer12) | ClinVar |
| 6 | g.129465268C>A | CA365622159 | LAMA2 | c.7279C>A (p.Leu2427Met) c.7543C>A (p.Leu2515Met) n.910C>A c.7276C>A (p.Leu2426Met) c.7537C>A (p.Leu2513Met) c.7549C>A (p.Leu2517Met) c.5674C>A (p.Leu1892Met) | |
| 6 | g.129465268C>G | CA365622162 | LAMA2 | c.7279C>G (p.Leu2427Val) c.7543C>G (p.Leu2515Val) n.910C>G c.7276C>G (p.Leu2426Val) c.7537C>G (p.Leu2513Val) c.7549C>G (p.Leu2517Val) c.5674C>G (p.Leu1892Val) | |
| 6 | g.129465268C>T | CA451926486 | LAMA2 | c.7279C>T (p.Leu2427=) c.7543C>T (p.Leu2515=) n.910C>T c.7276C>T (p.Leu2426=) c.7537C>T (p.Leu2513=) c.7549C>T (p.Leu2517=) c.5674C>T (p.Leu1892=) | |
| 6 | g.129465269del | CA2697553711 | LAMA2 | c.7280del (p.Leu2427ArgfsTer13) c.7544del (p.Leu2515ArgfsTer13) n.911del c.7277del (p.Leu2426ArgfsTer13) c.7538del (p.Leu2513ArgfsTer13) c.7550del (p.Leu2517ArgfsTer13) c.5675del (p.Leu1892ArgfsTer13) | ClinVar |
| 6 | g.129465269T>A | CA365622166 | LAMA2 | c.7280T>A (p.Leu2427Gln) c.7544T>A (p.Leu2515Gln) n.911T>A c.7277T>A (p.Leu2426Gln) c.7538T>A (p.Leu2513Gln) c.7550T>A (p.Leu2517Gln) c.5675T>A (p.Leu1892Gln) | |
| 6 | g.129465269T>C | CA365622168 | LAMA2 | c.7280T>C (p.Leu2427Pro) c.7544T>C (p.Leu2515Pro) n.911T>C c.7277T>C (p.Leu2426Pro) c.7538T>C (p.Leu2513Pro) c.7550T>C (p.Leu2517Pro) c.5675T>C (p.Leu1892Pro) | ClinVar dbSNP |
| 6 | g.129465269T>G | CA365622171 | LAMA2 | c.7280T>G (p.Leu2427Arg) c.7544T>G (p.Leu2515Arg) n.911T>G c.7277T>G (p.Leu2426Arg) c.7538T>G (p.Leu2513Arg) c.7550T>G (p.Leu2517Arg) c.5675T>G (p.Leu1892Arg) | |
| 6 | g.129465269T= | CA1663192691 | LAMA2 | c.7280T= (p.Leu2427=) c.7544T= (p.Leu2515=) n.911T= c.7277T= (p.Leu2426=) c.7538T= (p.Leu2513=) c.7550T= (p.Leu2517=) c.5675T= (p.Leu1892=) | |
| 6 | g.129465270G>A | CA451926487 | LAMA2 | c.7281G>A (p.Leu2427=) c.7545G>A (p.Leu2515=) n.912G>A c.7278G>A (p.Leu2426=) c.7539G>A (p.Leu2513=) c.7551G>A (p.Leu2517=) c.5676G>A (p.Leu1892=) | |
| 6 | g.129465270G>C | CA451926488 | LAMA2 | c.7281G>C (p.Leu2427=) c.7545G>C (p.Leu2515=) n.912G>C c.7278G>C (p.Leu2426=) c.7539G>C (p.Leu2513=) c.7551G>C (p.Leu2517=) c.5676G>C (p.Leu1892=) | |
| 6 | g.129465270G>T | CA451926489 | LAMA2 | c.7281G>T (p.Leu2427=) c.7545G>T (p.Leu2515=) n.912G>T c.7278G>T (p.Leu2426=) c.7539G>T (p.Leu2513=) c.7551G>T (p.Leu2517=) c.5676G>T (p.Leu1892=) | |
| 6 | g.129465271T>A | CA365622172 | LAMA2 | c.7282T>A (p.Ser2428Thr) c.7546T>A (p.Ser2516Thr) n.913T>A c.7279T>A (p.Ser2427Thr) c.7540T>A (p.Ser2514Thr) c.7552T>A (p.Ser2518Thr) c.5677T>A (p.Ser1893Thr) | |
| 6 | g.129465271T>C | CA365622173 | LAMA2 | c.7282T>C (p.Ser2428Pro) c.7546T>C (p.Ser2516Pro) n.913T>C c.7279T>C (p.Ser2427Pro) c.7540T>C (p.Ser2514Pro) c.7552T>C (p.Ser2518Pro) c.5677T>C (p.Ser1893Pro) | |
| 6 | g.129465271T>G | CA365622174 | LAMA2 | c.7282T>G (p.Ser2428Ala) c.7546T>G (p.Ser2516Ala) n.913T>G c.7279T>G (p.Ser2427Ala) c.7540T>G (p.Ser2514Ala) c.7552T>G (p.Ser2518Ala) c.5677T>G (p.Ser1893Ala) | |
| 6 | g.129465272C>A | CA365622175 | LAMA2 | c.7283C>A (p.Ser2428Ter) c.7547C>A (p.Ser2516Ter) n.914C>A c.7280C>A (p.Ser2427Ter) c.7541C>A (p.Ser2514Ter) c.7553C>A (p.Ser2518Ter) c.5678C>A (p.Ser1893Ter) | gnomAD v4 |
| 6 | g.129465272C= | CA1663192696 | LAMA2 | c.7283C= (p.Ser2428=) c.7547C= (p.Ser2516=) n.914C= c.7280C= (p.Ser2427=) c.7541C= (p.Ser2514=) c.7553C= (p.Ser2518=) c.5678C= (p.Ser1893=) | |
| 6 | g.129465272C>G | CA3994494 | LAMA2 | c.7283C>G (p.Ser2428Ter) c.7547C>G (p.Ser2516Ter) n.914C>G c.7280C>G (p.Ser2427Ter) c.7541C>G (p.Ser2514Ter) c.7553C>G (p.Ser2518Ter) c.5678C>G (p.Ser1893Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465272C>T | CA365622177 | LAMA2 | c.7283C>T (p.Ser2428Leu) c.7547C>T (p.Ser2516Leu) n.914C>T c.7280C>T (p.Ser2427Leu) c.7541C>T (p.Ser2514Leu) c.7553C>T (p.Ser2518Leu) c.5678C>T (p.Ser1893Leu) | |
| 6 | g.129465272_129465275del | CA913109499 | LAMA2 | c.7283_7286del (p.Ser2428Ter) c.7547_7550del (p.Ser2516Ter) n.914_917del c.7280_7283del (p.Ser2427Ter) c.7541_7544del (p.Ser2514Ter) c.7553_7556del (p.Ser2518Ter) c.5678_5681del (p.Ser1893Ter) | |
| 6 | g.129465272_129465275delinsCAAG | CA1663192694 | LAMA2 | c.7283_7286delinsCAAG (p.Ser2428=) c.7547_7550delinsCAAG (p.Ser2516=) n.914_917delinsCAAG c.7280_7283delinsCAAG (p.Ser2427=) c.7541_7544delinsCAAG (p.Ser2514=) c.7553_7556delinsCAAG (p.Ser2518=) c.5678_5681delinsCAAG (p.Ser1893=) | |
| 6 | g.129465273A>C | CA451926491 | LAMA2 | c.7284A>C (p.Ser2428=) c.7548A>C (p.Ser2516=) n.915A>C c.7281A>C (p.Ser2427=) c.7542A>C (p.Ser2514=) c.7554A>C (p.Ser2518=) c.5679A>C (p.Ser1893=) | |
| 6 | g.129465273A>G | CA451926490 | LAMA2 | c.7284A>G (p.Ser2428=) c.7548A>G (p.Ser2516=) n.915A>G c.7281A>G (p.Ser2427=) c.7542A>G (p.Ser2514=) c.7554A>G (p.Ser2518=) c.5679A>G (p.Ser1893=) | |
| 6 | g.129465273A>T | CA451926492 | LAMA2 | c.7284A>T (p.Ser2428=) c.7548A>T (p.Ser2516=) n.915A>T c.7281A>T (p.Ser2427=) c.7542A>T (p.Ser2514=) c.7554A>T (p.Ser2518=) c.5679A>T (p.Ser1893=) | |
| 6 | g.129465275_129465277del | CA365622178 | LAMA2 | c.7286_7288del (p.Arg2429del) c.7550_7552del (p.Arg2517del) n.917_919del c.7283_7285del (p.Arg2428del) c.7544_7546del (p.Arg2515del) c.7556_7558del (p.Arg2519del) c.5681_5683del (p.Arg1894del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465274A>C | CA451926493 | LAMA2 | c.7285A>C (p.Arg2429=) c.7549A>C (p.Arg2517=) n.916A>C c.7282A>C (p.Arg2428=) c.7543A>C (p.Arg2515=) c.7555A>C (p.Arg2519=) c.5680A>C (p.Arg1894=) | |
| 6 | g.129465274A>G | CA365622184 | LAMA2 | c.7285A>G (p.Arg2429Gly) c.7549A>G (p.Arg2517Gly) n.916A>G c.7282A>G (p.Arg2428Gly) c.7543A>G (p.Arg2515Gly) c.7555A>G (p.Arg2519Gly) c.5680A>G (p.Arg1894Gly) | |
| 6 | g.129465274A>T | CA365622181 | LAMA2 | c.7285A>T (p.Arg2429Ter) c.7549A>T (p.Arg2517Ter) n.916A>T c.7282A>T (p.Arg2428Ter) c.7543A>T (p.Arg2515Ter) c.7555A>T (p.Arg2519Ter) c.5680A>T (p.Arg1894Ter) | |
| 6 | g.129465275G>A | CA365622185 | LAMA2 | c.7286G>A (p.Arg2429Lys) c.7550G>A (p.Arg2517Lys) n.917G>A c.7283G>A (p.Arg2428Lys) c.7544G>A (p.Arg2515Lys) c.7556G>A (p.Arg2519Lys) c.5681G>A (p.Arg1894Lys) | |
| 6 | g.129465275G>C | CA365622188 | LAMA2 | c.7286G>C (p.Arg2429Thr) c.7550G>C (p.Arg2517Thr) n.917G>C c.7283G>C (p.Arg2428Thr) c.7544G>C (p.Arg2515Thr) c.7556G>C (p.Arg2519Thr) c.5681G>C (p.Arg1894Thr) | dbSNP |
| 6 | g.129465275G= | CA1663192703 | LAMA2 | c.7286G= (p.Arg2429=) c.7550G= (p.Arg2517=) n.917G= c.7283G= (p.Arg2428=) c.7544G= (p.Arg2515=) c.7556G= (p.Arg2519=) c.5681G= (p.Arg1894=) | |
| 6 | g.129465275G>T | CA365622189 | LAMA2 | c.7286G>T (p.Arg2429Ile) c.7550G>T (p.Arg2517Ile) n.917G>T c.7283G>T (p.Arg2428Ile) c.7544G>T (p.Arg2515Ile) c.7556G>T (p.Arg2519Ile) c.5681G>T (p.Arg1894Ile) | |
| 6 | g.129465276A>C | CA365622194 | LAMA2 | c.7287A>C (p.Arg2429Ser) c.7551A>C (p.Arg2517Ser) n.918A>C c.7284A>C (p.Arg2428Ser) c.7545A>C (p.Arg2515Ser) c.7557A>C (p.Arg2519Ser) c.5682A>C (p.Arg1894Ser) | |
| 6 | g.129465276A>G | CA451926494 | LAMA2 | c.7287A>G (p.Arg2429=) c.7551A>G (p.Arg2517=) n.918A>G c.7284A>G (p.Arg2428=) c.7545A>G (p.Arg2515=) c.7557A>G (p.Arg2519=) c.5682A>G (p.Arg1894=) | |
| 6 | g.129465276A>T | CA365622198 | LAMA2 | c.7287A>T (p.Arg2429Ser) c.7551A>T (p.Arg2517Ser) n.918A>T c.7284A>T (p.Arg2428Ser) c.7545A>T (p.Arg2515Ser) c.7557A>T (p.Arg2519Ser) c.5682A>T (p.Arg1894Ser) | gnomAD v4 |
| 6 | g.129465277A= | CA1663192708 | LAMA2 | c.7288A= (p.Ile2430=) c.7552A= (p.Ile2518=) n.919A= c.7285A= (p.Ile2429=) c.7546A= (p.Ile2516=) c.7558A= (p.Ile2520=) c.5683A= (p.Ile1895=) | |
| 6 | g.129465277A>C | CA365622200 | LAMA2 | c.7288A>C (p.Ile2430Leu) c.7552A>C (p.Ile2518Leu) n.919A>C c.7285A>C (p.Ile2429Leu) c.7546A>C (p.Ile2516Leu) c.7558A>C (p.Ile2520Leu) c.5683A>C (p.Ile1895Leu) | ClinVar dbSNP |
| 6 | g.129465277A>G | CA365622201 | LAMA2 | c.7288A>G (p.Ile2430Val) c.7552A>G (p.Ile2518Val) n.919A>G c.7285A>G (p.Ile2429Val) c.7546A>G (p.Ile2516Val) c.7558A>G (p.Ile2520Val) c.5683A>G (p.Ile1895Val) | |
| 6 | g.129465277A>T | CA365622203 | LAMA2 | c.7288A>T (p.Ile2430Phe) c.7552A>T (p.Ile2518Phe) n.919A>T c.7285A>T (p.Ile2429Phe) c.7546A>T (p.Ile2516Phe) c.7558A>T (p.Ile2520Phe) c.5683A>T (p.Ile1895Phe) | |
| 6 | g.129465278T>A | CA365622205 | LAMA2 | c.7289T>A (p.Ile2430Asn) c.7553T>A (p.Ile2518Asn) n.920T>A c.7286T>A (p.Ile2429Asn) c.7547T>A (p.Ile2516Asn) c.7559T>A (p.Ile2520Asn) c.5684T>A (p.Ile1895Asn) | |
| 6 | g.129465278T>C | CA365622207 | LAMA2 | c.7289T>C (p.Ile2430Thr) c.7553T>C (p.Ile2518Thr) n.920T>C c.7286T>C (p.Ile2429Thr) c.7547T>C (p.Ile2516Thr) c.7559T>C (p.Ile2520Thr) c.5684T>C (p.Ile1895Thr) | |
| 6 | g.129465278T>G | CA365622209 | LAMA2 | c.7289T>G (p.Ile2430Ser) c.7553T>G (p.Ile2518Ser) n.920T>G c.7286T>G (p.Ile2429Ser) c.7547T>G (p.Ile2516Ser) c.7559T>G (p.Ile2520Ser) c.5684T>G (p.Ile1895Ser) | |
| 6 | g.129465279T>A | CA451926495 | LAMA2 | c.7290T>A (p.Ile2430=) c.7554T>A (p.Ile2518=) n.921T>A c.7287T>A (p.Ile2429=) c.7548T>A (p.Ile2516=) c.7560T>A (p.Ile2520=) c.5685T>A (p.Ile1895=) | |
| 6 | g.129465279T>C | CA451926496 | LAMA2 | c.7290T>C (p.Ile2430=) c.7554T>C (p.Ile2518=) n.921T>C c.7287T>C (p.Ile2429=) c.7548T>C (p.Ile2516=) c.7560T>C (p.Ile2520=) c.5685T>C (p.Ile1895=) | gnomAD v4 |
| 6 | g.129465279T>G | CA365622211 | LAMA2 | c.7290T>G (p.Ile2430Met) c.7554T>G (p.Ile2518Met) n.921T>G c.7287T>G (p.Ile2429Met) c.7548T>G (p.Ile2516Met) c.7560T>G (p.Ile2520Met) c.5685T>G (p.Ile1895Met) | |
| 6 | g.129465280C>A | CA365622214 | LAMA2 | c.7291C>A (p.Gln2431Lys) c.7555C>A (p.Gln2519Lys) n.922C>A c.7288C>A (p.Gln2430Lys) c.7549C>A (p.Gln2517Lys) c.7561C>A (p.Gln2521Lys) c.5686C>A (p.Gln1896Lys) | |
| 6 | g.129465280C>G | CA365622221 | LAMA2 | c.7291C>G (p.Gln2431Glu) c.7555C>G (p.Gln2519Glu) n.922C>G c.7288C>G (p.Gln2430Glu) c.7549C>G (p.Gln2517Glu) c.7561C>G (p.Gln2521Glu) c.5686C>G (p.Gln1896Glu) | |
| 6 | g.129465280C>T | CA365622217 | LAMA2 | c.7291C>T (p.Gln2431Ter) c.7555C>T (p.Gln2519Ter) n.922C>T c.7288C>T (p.Gln2430Ter) c.7549C>T (p.Gln2517Ter) c.7561C>T (p.Gln2521Ter) c.5686C>T (p.Gln1896Ter) | |
| 6 | g.129465281A>C | CA365622225 | LAMA2 | c.7292A>C (p.Gln2431Pro) c.7556A>C (p.Gln2519Pro) n.923A>C c.7289A>C (p.Gln2430Pro) c.7550A>C (p.Gln2517Pro) c.7562A>C (p.Gln2521Pro) c.5687A>C (p.Gln1896Pro) |