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.129315638C>A | CA365613108 | LAMA2 | c.3718C>A (p.Gln1240Lys) c.3982C>A (p.Gln1328Lys) c.3988C>A (p.Gln1330Lys) c.2113C>A (p.Gln705Lys) | |
| 6 | g.129315638C= | CA1663080101 | LAMA2 | c.3718C= (p.Gln1240=) c.3982C= (p.Gln1328=) c.3988C= (p.Gln1330=) c.2113C= (p.Gln705=) | |
| 6 | g.129315638C>G | CA365613109 | LAMA2 | c.3718C>G (p.Gln1240Glu) c.3982C>G (p.Gln1328Glu) c.3988C>G (p.Gln1330Glu) c.2113C>G (p.Gln705Glu) | |
| 6 | g.129315638C>T | CA220762 | LAMA2 | c.3718C>T (p.Gln1240Ter) c.3982C>T (p.Gln1328Ter) c.3988C>T (p.Gln1330Ter) c.2113C>T (p.Gln705Ter) | ClinVar dbSNP |
| 6 | g.129315639A>C | CA365613110 | LAMA2 | c.3719A>C (p.Gln1240Pro) c.3983A>C (p.Gln1328Pro) c.3989A>C (p.Gln1330Pro) c.2114A>C (p.Gln705Pro) | |
| 6 | g.129315639A>G | CA365613111 | LAMA2 | c.3719A>G (p.Gln1240Arg) c.3983A>G (p.Gln1328Arg) c.3989A>G (p.Gln1330Arg) c.2114A>G (p.Gln705Arg) | |
| 6 | g.129315639A>T | CA365613112 | LAMA2 | c.3719A>T (p.Gln1240Leu) c.3983A>T (p.Gln1328Leu) c.3989A>T (p.Gln1330Leu) c.2114A>T (p.Gln705Leu) | |
| 6 | g.129315640A= | CA1663080111 | LAMA2 | c.3720A= (p.Gln1240=) c.3984A= (p.Gln1328=) c.3990A= (p.Gln1330=) c.2115A= (p.Gln705=) | |
| 6 | g.129315640A>C | CA365613113 | LAMA2 | c.3720A>C (p.Gln1240His) c.3984A>C (p.Gln1328His) c.3990A>C (p.Gln1330His) c.2115A>C (p.Gln705His) | COSMIC |
| 6 | g.129315640A>G | CA3993335 | LAMA2 | c.3720A>G (p.Gln1240=) c.3984A>G (p.Gln1328=) c.3990A>G (p.Gln1330=) c.2115A>G (p.Gln705=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129315640A>T | CA365613114 | LAMA2 | c.3720A>T (p.Gln1240His) c.3984A>T (p.Gln1328His) c.3990A>T (p.Gln1330His) c.2115A>T (p.Gln705His) | |
| 6 | g.129315641T>A | CA365613115 | LAMA2 | c.3721T>A (p.Phe1241Ile) c.3985T>A (p.Phe1329Ile) c.3991T>A (p.Phe1331Ile) c.2116T>A (p.Phe706Ile) | |
| 6 | g.129315641T>C | CA365613117 | LAMA2 | c.3721T>C (p.Phe1241Leu) c.3985T>C (p.Phe1329Leu) c.3991T>C (p.Phe1331Leu) c.2116T>C (p.Phe706Leu) | |
| 6 | g.129315641T>G | CA365613116 | LAMA2 | c.3721T>G (p.Phe1241Val) c.3985T>G (p.Phe1329Val) c.3991T>G (p.Phe1331Val) c.2116T>G (p.Phe706Val) | |
| 6 | g.129315642T>A | CA365613118 | LAMA2 | c.3722T>A (p.Phe1241Tyr) c.3986T>A (p.Phe1329Tyr) c.3992T>A (p.Phe1331Tyr) c.2117T>A (p.Phe706Tyr) | |
| 6 | g.129315642T>C | CA365613119 | LAMA2 | c.3722T>C (p.Phe1241Ser) c.3986T>C (p.Phe1329Ser) c.3992T>C (p.Phe1331Ser) c.2117T>C (p.Phe706Ser) | |
| 6 | g.129315642T>G | CA365613120 | LAMA2 | c.3722T>G (p.Phe1241Cys) c.3986T>G (p.Phe1329Cys) c.3992T>G (p.Phe1331Cys) c.2117T>G (p.Phe706Cys) | |
| 6 | g.129315643T>A | CA365613121 | LAMA2 | c.3723T>A (p.Phe1241Leu) c.3987T>A (p.Phe1329Leu) c.3993T>A (p.Phe1331Leu) c.2118T>A (p.Phe706Leu) | gnomAD v4 |
| 6 | g.129315643T>C | CA451936778 | LAMA2 | c.3723T>C (p.Phe1241=) c.3987T>C (p.Phe1329=) c.3993T>C (p.Phe1331=) c.2118T>C (p.Phe706=) | |
| 6 | g.129315643T>G | CA365613122 | LAMA2 | c.3723T>G (p.Phe1241Leu) c.3987T>G (p.Phe1329Leu) c.3993T>G (p.Phe1331Leu) c.2118T>G (p.Phe706Leu) | |
| 6 | g.129315644G>A | CA3993336 | LAMA2 | c.3724G>A (p.Glu1242Lys) c.3988G>A (p.Glu1330Lys) c.3994G>A (p.Glu1332Lys) c.2119G>A (p.Glu707Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129315644G>C | CA365613123 | LAMA2 | c.3724G>C (p.Glu1242Gln) c.3988G>C (p.Glu1330Gln) c.3994G>C (p.Glu1332Gln) c.2119G>C (p.Glu707Gln) | |
| 6 | g.129315644G= | CA1663080116 | LAMA2 | c.3724G= (p.Glu1242=) c.3988G= (p.Glu1330=) c.3994G= (p.Glu1332=) c.2119G= (p.Glu707=) | |
| 6 | g.129315644G>T | CA365613124 | LAMA2 | c.3724G>T (p.Glu1242Ter) c.3988G>T (p.Glu1330Ter) c.3994G>T (p.Glu1332Ter) c.2119G>T (p.Glu707Ter) | |
| 6 | g.129315645A>C | CA365613125 | LAMA2 | c.3725A>C (p.Glu1242Ala) c.3989A>C (p.Glu1330Ala) c.3995A>C (p.Glu1332Ala) c.2120A>C (p.Glu707Ala) | |
| 6 | g.129315645A>G | CA365613126 | LAMA2 | c.3725A>G (p.Glu1242Gly) c.3989A>G (p.Glu1330Gly) c.3995A>G (p.Glu1332Gly) c.2120A>G (p.Glu707Gly) | |
| 6 | g.129315645A>T | CA365613127 | LAMA2 | c.3725A>T (p.Glu1242Val) c.3989A>T (p.Glu1330Val) c.3995A>T (p.Glu1332Val) c.2120A>T (p.Glu707Val) | |
| 6 | g.129315646del | CA2695206986 | LAMA2 | c.3726del (p.Gly1243GlufsTer4) c.3990del (p.Gly1331GlufsTer4) c.3996del (p.Gly1333GlufsTer4) c.2121del (p.Gly708GlufsTer4) | |
| 6 | g.129315646A>C | CA365613128 | LAMA2 | c.3726A>C (p.Glu1242Asp) c.3990A>C (p.Glu1330Asp) c.3996A>C (p.Glu1332Asp) c.2121A>C (p.Glu707Asp) | |
| 6 | g.129315646A>G | CA451936779 | LAMA2 | c.3726A>G (p.Glu1242=) c.3990A>G (p.Glu1330=) c.3996A>G (p.Glu1332=) c.2121A>G (p.Glu707=) | |
| 6 | g.129315646A>T | CA365613129 | LAMA2 | c.3726A>T (p.Glu1242Asp) c.3990A>T (p.Glu1330Asp) c.3996A>T (p.Glu1332Asp) c.2121A>T (p.Glu707Asp) | |
| 6 | g.129315647G>A | CA365613130 | LAMA2 | c.3727G>A (p.Gly1243Arg) c.3991G>A (p.Gly1331Arg) c.3997G>A (p.Gly1333Arg) c.2122G>A (p.Gly708Arg) | ClinVar |
| 6 | g.129315647G>C | CA365613132 | LAMA2 | c.3727G>C (p.Gly1243Arg) c.3991G>C (p.Gly1331Arg) c.3997G>C (p.Gly1333Arg) c.2122G>C (p.Gly708Arg) | |
| 6 | g.129315647G>T | CA365613131 | LAMA2 | c.3727G>T (p.Gly1243Ter) c.3991G>T (p.Gly1331Ter) c.3997G>T (p.Gly1333Ter) c.2122G>T (p.Gly708Ter) | |
| 6 | g.129315648G>A | CA146914121 | LAMA2 | c.3728G>A (p.Gly1243Glu) c.3992G>A (p.Gly1331Glu) c.3998G>A (p.Gly1333Glu) c.2123G>A (p.Gly708Glu) | dbSNP |
| 6 | g.129315648G>C | CA365613133 | LAMA2 | c.3728G>C (p.Gly1243Ala) c.3992G>C (p.Gly1331Ala) c.3998G>C (p.Gly1333Ala) c.2123G>C (p.Gly708Ala) | gnomAD v4 |
| 6 | g.129315648G= | CA1663080118 | LAMA2 | c.3728G= (p.Gly1243=) c.3992G= (p.Gly1331=) c.3998G= (p.Gly1333=) c.2123G= (p.Gly708=) | |
| 6 | g.129315648G>T | CA365613134 | LAMA2 | c.3728G>T (p.Gly1243Val) c.3992G>T (p.Gly1331Val) c.3998G>T (p.Gly1333Val) c.2123G>T (p.Gly708Val) | |
| 6 | g.129315649A= | CA1663080121 | LAMA2 | c.3729A= (p.Gly1243=) c.3993A= (p.Gly1331=) c.3999A= (p.Gly1333=) c.2124A= (p.Gly708=) | |
| 6 | g.129315649A>C | CA451936780 | LAMA2 | c.3729A>C (p.Gly1243=) c.3993A>C (p.Gly1331=) c.3999A>C (p.Gly1333=) c.2124A>C (p.Gly708=) | |
| 6 | g.129315649A>G | CA451936781 | LAMA2 | c.3729A>G (p.Gly1243=) c.3993A>G (p.Gly1331=) c.3999A>G (p.Gly1333=) c.2124A>G (p.Gly708=) | dbSNP |
| 6 | g.129315649A>T | CA451936782 | LAMA2 | c.3729A>T (p.Gly1243=) c.3993A>T (p.Gly1331=) c.3999A>T (p.Gly1333=) c.2124A>T (p.Gly708=) | |
| 6 | g.129315650A>C | CA365613135 | LAMA2 | c.3730A>C (p.Lys1244Gln) c.3994A>C (p.Lys1332Gln) c.4000A>C (p.Lys1334Gln) c.2125A>C (p.Lys709Gln) | |
| 6 | g.129315650A>G | CA365613136 | LAMA2 | c.3730A>G (p.Lys1244Glu) c.3994A>G (p.Lys1332Glu) c.4000A>G (p.Lys1334Glu) c.2125A>G (p.Lys709Glu) | ClinVar |
| 6 | g.129315650A>T | CA365613137 | LAMA2 | c.3730A>T (p.Lys1244Ter) c.3994A>T (p.Lys1332Ter) c.4000A>T (p.Lys1334Ter) c.2125A>T (p.Lys709Ter) | |
| 6 | g.129315651A>C | CA365613138 | LAMA2 | c.3731A>C (p.Lys1244Thr) c.3995A>C (p.Lys1332Thr) c.4001A>C (p.Lys1334Thr) c.2126A>C (p.Lys709Thr) | gnomAD v4 |
| 6 | g.129315651A>G | CA365613139 | LAMA2 | c.3731A>G (p.Lys1244Arg) c.3995A>G (p.Lys1332Arg) c.4001A>G (p.Lys1334Arg) c.2126A>G (p.Lys709Arg) | |
| 6 | g.129315651A>T | CA365613140 | LAMA2 | c.3731A>T (p.Lys1244Met) c.3995A>T (p.Lys1332Met) c.4001A>T (p.Lys1334Met) c.2126A>T (p.Lys709Met) | |
| 6 | g.129315652G>A | CA451936783 | LAMA2 | c.3732G>A (p.Lys1244=) c.3996G>A (p.Lys1332=) c.4002G>A (p.Lys1334=) c.2127G>A (p.Lys709=) | gnomAD v4 COSMIC |
| 6 | g.129315652G>C | CA365613141 | LAMA2 | c.3732G>C (p.Lys1244Asn) c.3996G>C (p.Lys1332Asn) c.4002G>C (p.Lys1334Asn) c.2127G>C (p.Lys709Asn) |