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.129464288_129464451delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT | CA1663191420 | LAMA2 | c.6993-2_7154delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT c.7257-2_7418delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT n.624-2_785delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT n.332-2_493delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT c.6990-2_7151delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT c.7251-2_7412delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT c.7263-2_7424delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT c.5388-2_5549delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT | |
| 6 | g.129464290_129464452del | CA10588988 | LAMA2 | c.6993_7155del c.7257_7419del n.624_786del n.332_494del c.6990_7152del c.7251_7413del c.7263_7425del c.5388_5550del | ClinVar dbSNP |
| 6 | g.129464344A= | CA1663191505 | LAMA2 | c.7047A= (p.Ala2349=) c.7311A= (p.Ala2437=) n.678A= n.386A= c.7044A= (p.Ala2348=) c.7305A= (p.Ala2435=) c.7317A= (p.Ala2439=) c.5442A= (p.Ala1814=) | |
| 6 | g.129464344A>C | CA451925829 | LAMA2 | c.7047A>C (p.Ala2349=) c.7311A>C (p.Ala2437=) n.678A>C n.386A>C c.7044A>C (p.Ala2348=) c.7305A>C (p.Ala2435=) c.7317A>C (p.Ala2439=) c.5442A>C (p.Ala1814=) | |
| 6 | g.129464344A>G | CA451925825 | LAMA2 | c.7047A>G (p.Ala2349=) c.7311A>G (p.Ala2437=) n.678A>G n.386A>G c.7044A>G (p.Ala2348=) c.7305A>G (p.Ala2435=) c.7317A>G (p.Ala2439=) c.5442A>G (p.Ala1814=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129464344A>T | CA451925823 | LAMA2 | c.7047A>T (p.Ala2349=) c.7311A>T (p.Ala2437=) n.678A>T n.386A>T c.7044A>T (p.Ala2348=) c.7305A>T (p.Ala2435=) c.7317A>T (p.Ala2439=) c.5442A>T (p.Ala1814=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129464345T>A | CA365620246 | LAMA2 | c.7048T>A (p.Leu2350Met) c.7312T>A (p.Leu2438Met) n.679T>A n.387T>A c.7045T>A (p.Leu2349Met) c.7306T>A (p.Leu2436Met) c.7318T>A (p.Leu2440Met) c.5443T>A (p.Leu1815Met) | |
| 6 | g.129464345T>C | CA451925833 | LAMA2 | c.7048T>C (p.Leu2350=) c.7312T>C (p.Leu2438=) n.679T>C n.387T>C c.7045T>C (p.Leu2349=) c.7306T>C (p.Leu2436=) c.7318T>C (p.Leu2440=) c.5443T>C (p.Leu1815=) | dbSNP |
| 6 | g.129464345T>G | CA365620247 | LAMA2 | c.7048T>G (p.Leu2350Val) c.7312T>G (p.Leu2438Val) n.679T>G n.387T>G c.7045T>G (p.Leu2349Val) c.7306T>G (p.Leu2436Val) c.7318T>G (p.Leu2440Val) c.5443T>G (p.Leu1815Val) | |
| 6 | g.129464345T= | CA1663191507 | LAMA2 | c.7048T= (p.Leu2350=) c.7312T= (p.Leu2438=) n.679T= n.387T= c.7045T= (p.Leu2349=) c.7306T= (p.Leu2436=) c.7318T= (p.Leu2440=) c.5443T= (p.Leu1815=) | |
| 6 | g.129464346T>A | CA365620251 | LAMA2 | c.7049T>A (p.Leu2350Ter) c.7313T>A (p.Leu2438Ter) n.680T>A n.388T>A c.7046T>A (p.Leu2349Ter) c.7307T>A (p.Leu2436Ter) c.7319T>A (p.Leu2440Ter) c.5444T>A (p.Leu1815Ter) | |
| 6 | g.129464346T>C | CA365620255 | LAMA2 | c.7049T>C (p.Leu2350Ser) c.7313T>C (p.Leu2438Ser) n.680T>C n.388T>C c.7046T>C (p.Leu2349Ser) c.7307T>C (p.Leu2436Ser) c.7319T>C (p.Leu2440Ser) c.5444T>C (p.Leu1815Ser) | |
| 6 | g.129464346T>G | CA365620258 | LAMA2 | c.7049T>G (p.Leu2350Trp) c.7313T>G (p.Leu2438Trp) n.680T>G n.388T>G c.7046T>G (p.Leu2349Trp) c.7307T>G (p.Leu2436Trp) c.7319T>G (p.Leu2440Trp) c.5444T>G (p.Leu1815Trp) | |
| 6 | g.129464347G>A | CA451925838 | LAMA2 | c.7050G>A (p.Leu2350=) c.7314G>A (p.Leu2438=) n.681G>A n.389G>A c.7047G>A (p.Leu2349=) c.7308G>A (p.Leu2436=) c.7320G>A (p.Leu2440=) c.5445G>A (p.Leu1815=) | gnomAD v4 |
| 6 | g.129464347G>C | CA365620268 | LAMA2 | c.7050G>C (p.Leu2350Phe) c.7314G>C (p.Leu2438Phe) n.681G>C n.389G>C c.7047G>C (p.Leu2349Phe) c.7308G>C (p.Leu2436Phe) c.7320G>C (p.Leu2440Phe) c.5445G>C (p.Leu1815Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129464347G= | CA1663191512 | LAMA2 | c.7050G= (p.Leu2350=) c.7314G= (p.Leu2438=) n.681G= n.389G= c.7047G= (p.Leu2349=) c.7308G= (p.Leu2436=) c.7320G= (p.Leu2440=) c.5445G= (p.Leu1815=) | |
| 6 | g.129464347G>T | CA365620273 | LAMA2 | c.7050G>T (p.Leu2350Phe) c.7314G>T (p.Leu2438Phe) n.681G>T n.389G>T c.7047G>T (p.Leu2349Phe) c.7308G>T (p.Leu2436Phe) c.7320G>T (p.Leu2440Phe) c.5445G>T (p.Leu1815Phe) | |
| 6 | g.129464348G>A | CA3994425 | LAMA2 | c.7051G>A (p.Val2351Ile) c.7315G>A (p.Val2439Ile) n.682G>A n.390G>A c.7048G>A (p.Val2350Ile) c.7309G>A (p.Val2437Ile) c.7321G>A (p.Val2441Ile) c.5446G>A (p.Val1816Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129464348G>C | CA365620277 | LAMA2 | c.7051G>C (p.Val2351Leu) c.7315G>C (p.Val2439Leu) n.682G>C n.390G>C c.7048G>C (p.Val2350Leu) c.7309G>C (p.Val2437Leu) c.7321G>C (p.Val2441Leu) c.5446G>C (p.Val1816Leu) | |
| 6 | g.129464348G= | CA1663191515 | LAMA2 | c.7051G= (p.Val2351=) c.7315G= (p.Val2439=) n.682G= n.390G= c.7048G= (p.Val2350=) c.7309G= (p.Val2437=) c.7321G= (p.Val2441=) c.5446G= (p.Val1816=) | |
| 6 | g.129464348G>T | CA365620279 | LAMA2 | c.7051G>T (p.Val2351Phe) c.7315G>T (p.Val2439Phe) n.682G>T n.390G>T c.7048G>T (p.Val2350Phe) c.7309G>T (p.Val2437Phe) c.7321G>T (p.Val2441Phe) c.5446G>T (p.Val1816Phe) | |
| 6 | g.129464349T>A | CA365620286 | LAMA2 | c.7052T>A (p.Val2351Asp) c.7316T>A (p.Val2439Asp) n.683T>A n.391T>A c.7049T>A (p.Val2350Asp) c.7310T>A (p.Val2437Asp) c.7322T>A (p.Val2441Asp) c.5447T>A (p.Val1816Asp) | |
| 6 | g.129464349T>C | CA365620288 | LAMA2 | c.7052T>C (p.Val2351Ala) c.7316T>C (p.Val2439Ala) n.683T>C n.391T>C c.7049T>C (p.Val2350Ala) c.7310T>C (p.Val2437Ala) c.7322T>C (p.Val2441Ala) c.5447T>C (p.Val1816Ala) | ClinVar |
| 6 | g.129464349T>G | CA365620306 | LAMA2 | c.7052T>G (p.Val2351Gly) c.7316T>G (p.Val2439Gly) n.683T>G n.391T>G c.7049T>G (p.Val2350Gly) c.7310T>G (p.Val2437Gly) c.7322T>G (p.Val2441Gly) c.5447T>G (p.Val1816Gly) | |
| 6 | g.129464350C>A | CA451925859 | LAMA2 | c.7053C>A (p.Val2351=) c.7317C>A (p.Val2439=) n.684C>A n.392C>A c.7050C>A (p.Val2350=) c.7311C>A (p.Val2437=) c.7323C>A (p.Val2441=) c.5448C>A (p.Val1816=) | |
| 6 | g.129464350C>G | CA451925860 | LAMA2 | c.7053C>G (p.Val2351=) c.7317C>G (p.Val2439=) n.684C>G n.392C>G c.7050C>G (p.Val2350=) c.7311C>G (p.Val2437=) c.7323C>G (p.Val2441=) c.5448C>G (p.Val1816=) | |
| 6 | g.129464350C>T | CA451925862 | LAMA2 | c.7053C>T (p.Val2351=) c.7317C>T (p.Val2439=) n.684C>T n.392C>T c.7050C>T (p.Val2350=) c.7311C>T (p.Val2437=) c.7323C>T (p.Val2441=) c.5448C>T (p.Val1816=) | |
| 6 | g.129464351A>C | CA365620314 | LAMA2 | c.7054A>C (p.Ser2352Arg) c.7318A>C (p.Ser2440Arg) n.685A>C n.393A>C c.7051A>C (p.Ser2351Arg) c.7312A>C (p.Ser2438Arg) c.7324A>C (p.Ser2442Arg) c.5449A>C (p.Ser1817Arg) | gnomAD v4 |
| 6 | g.129464351A>G | CA365620315 | LAMA2 | c.7054A>G (p.Ser2352Gly) c.7318A>G (p.Ser2440Gly) n.685A>G n.393A>G c.7051A>G (p.Ser2351Gly) c.7312A>G (p.Ser2438Gly) c.7324A>G (p.Ser2442Gly) c.5449A>G (p.Ser1817Gly) | |
| 6 | g.129464351A>T | CA365620312 | LAMA2 | c.7054A>T (p.Ser2352Cys) c.7318A>T (p.Ser2440Cys) n.685A>T n.393A>T c.7051A>T (p.Ser2351Cys) c.7312A>T (p.Ser2438Cys) c.7324A>T (p.Ser2442Cys) c.5449A>T (p.Ser1817Cys) | |
| 6 | g.129464352G>A | CA365620317 | LAMA2 | c.7055G>A (p.Ser2352Asn) c.7319G>A (p.Ser2440Asn) n.686G>A n.394G>A c.7052G>A (p.Ser2351Asn) c.7313G>A (p.Ser2438Asn) c.7325G>A (p.Ser2442Asn) c.5450G>A (p.Ser1817Asn) | |
| 6 | g.129464352G>C | CA3994426 | LAMA2 | c.7055G>C (p.Ser2352Thr) c.7319G>C (p.Ser2440Thr) n.686G>C n.394G>C c.7052G>C (p.Ser2351Thr) c.7313G>C (p.Ser2438Thr) c.7325G>C (p.Ser2442Thr) c.5450G>C (p.Ser1817Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129464352G= | CA1663191517 | LAMA2 | c.7055G= (p.Ser2352=) c.7319G= (p.Ser2440=) n.686G= n.394G= c.7052G= (p.Ser2351=) c.7313G= (p.Ser2438=) c.7325G= (p.Ser2442=) c.5450G= (p.Ser1817=) | |
| 6 | g.129464352G>T | CA365620325 | LAMA2 | c.7055G>T (p.Ser2352Ile) c.7319G>T (p.Ser2440Ile) n.686G>T n.394G>T c.7052G>T (p.Ser2351Ile) c.7313G>T (p.Ser2438Ile) c.7325G>T (p.Ser2442Ile) c.5450G>T (p.Ser1817Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129464353C>A | CA365620340 | LAMA2 | c.7056C>A (p.Ser2352Arg) c.7320C>A (p.Ser2440Arg) n.687C>A n.395C>A c.7053C>A (p.Ser2351Arg) c.7314C>A (p.Ser2438Arg) c.7326C>A (p.Ser2442Arg) c.5451C>A (p.Ser1817Arg) | dbSNP |
| 6 | g.129464353C= | CA1663191520 | LAMA2 | c.7056C= (p.Ser2352=) c.7320C= (p.Ser2440=) n.687C= n.395C= c.7053C= (p.Ser2351=) c.7314C= (p.Ser2438=) c.7326C= (p.Ser2442=) c.5451C= (p.Ser1817=) | |
| 6 | g.129464353C>G | CA365620342 | LAMA2 | c.7056C>G (p.Ser2352Arg) c.7320C>G (p.Ser2440Arg) n.687C>G n.395C>G c.7053C>G (p.Ser2351Arg) c.7314C>G (p.Ser2438Arg) c.7326C>G (p.Ser2442Arg) c.5451C>G (p.Ser1817Arg) | |
| 6 | g.129464353C>T | CA451925881 | LAMA2 | c.7056C>T (p.Ser2352=) c.7320C>T (p.Ser2440=) n.687C>T n.395C>T c.7053C>T (p.Ser2351=) c.7314C>T (p.Ser2438=) c.7326C>T (p.Ser2442=) c.5451C>T (p.Ser1817=) | ClinVar dbSNP COSMIC |
| 6 | g.129464354C>A | CA365620371 | LAMA2 | c.7057C>A (p.Arg2353Ser) c.7321C>A (p.Arg2441Ser) n.688C>A n.396C>A c.7054C>A (p.Arg2352Ser) c.7315C>A (p.Arg2439Ser) c.7327C>A (p.Arg2443Ser) c.5452C>A (p.Arg1818Ser) | dbSNP gnomAD v4 |
| 6 | g.129464354C= | CA1663191525 | LAMA2 | c.7057C= (p.Arg2353=) c.7321C= (p.Arg2441=) n.688C= n.396C= c.7054C= (p.Arg2352=) c.7315C= (p.Arg2439=) c.7327C= (p.Arg2443=) c.5452C= (p.Arg1818=) | |
| 6 | g.129464354C>G | CA365620361 | LAMA2 | c.7057C>G (p.Arg2353Gly) c.7321C>G (p.Arg2441Gly) n.688C>G n.396C>G c.7054C>G (p.Arg2352Gly) c.7315C>G (p.Arg2439Gly) c.7327C>G (p.Arg2443Gly) c.5452C>G (p.Arg1818Gly) | |
| 6 | g.129464354C>T | CA3994427 | LAMA2 | c.7057C>T (p.Arg2353Cys) c.7321C>T (p.Arg2441Cys) n.688C>T n.396C>T c.7054C>T (p.Arg2352Cys) c.7315C>T (p.Arg2439Cys) c.7327C>T (p.Arg2443Cys) c.5452C>T (p.Arg1818Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129464355G>A | CA3994428 | LAMA2 | c.7058G>A (p.Arg2353His) c.7322G>A (p.Arg2441His) n.689G>A n.397G>A c.7055G>A (p.Arg2352His) c.7316G>A (p.Arg2439His) c.7328G>A (p.Arg2443His) c.5453G>A (p.Arg1818His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.129464355G>C | CA365620382 | LAMA2 | c.7058G>C (p.Arg2353Pro) c.7322G>C (p.Arg2441Pro) n.689G>C n.397G>C c.7055G>C (p.Arg2352Pro) c.7316G>C (p.Arg2439Pro) c.7328G>C (p.Arg2443Pro) c.5453G>C (p.Arg1818Pro) | |
| 6 | g.129464355G= | CA1663191533 | LAMA2 | c.7058G= (p.Arg2353=) c.7322G= (p.Arg2441=) n.689G= n.397G= c.7055G= (p.Arg2352=) c.7316G= (p.Arg2439=) c.7328G= (p.Arg2443=) c.5453G= (p.Arg1818=) | |
| 6 | g.129464355G>T | CA3994429 | LAMA2 | c.7058G>T (p.Arg2353Leu) c.7322G>T (p.Arg2441Leu) n.689G>T n.397G>T c.7055G>T (p.Arg2352Leu) c.7316G>T (p.Arg2439Leu) c.7328G>T (p.Arg2443Leu) c.5453G>T (p.Arg1818Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129464356T>A | CA451925887 | LAMA2 | c.7059T>A (p.Arg2353=) c.7323T>A (p.Arg2441=) n.690T>A n.398T>A c.7056T>A (p.Arg2352=) c.7317T>A (p.Arg2439=) c.7329T>A (p.Arg2443=) c.5454T>A (p.Arg1818=) | |
| 6 | g.129464356T>C | CA451925894 | LAMA2 | c.7059T>C (p.Arg2353=) c.7323T>C (p.Arg2441=) n.690T>C n.398T>C c.7056T>C (p.Arg2352=) c.7317T>C (p.Arg2439=) c.7329T>C (p.Arg2443=) c.5454T>C (p.Arg1818=) | dbSNP |
| 6 | g.129464356T>G | CA451925897 | LAMA2 | c.7059T>G (p.Arg2353=) c.7323T>G (p.Arg2441=) n.690T>G n.398T>G c.7056T>G (p.Arg2352=) c.7317T>G (p.Arg2439=) c.7329T>G (p.Arg2443=) c.5454T>G (p.Arg1818=) | |
| 6 | g.129464356T= | CA1663191538 | LAMA2 | c.7059T= (p.Arg2353=) c.7323T= (p.Arg2441=) n.690T= n.398T= c.7056T= (p.Arg2352=) c.7317T= (p.Arg2439=) c.7329T= (p.Arg2443=) c.5454T= (p.Arg1818=) |