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 |
|---|---|---|---|---|---|
| 1 | g.179557084T>A | CA422025735 | NPHS2 | c.681A>T (p.Ala227=) c.535-2553A>T (n.535-2553A>T) c.504A>T (p.Ala168=) c.461+2595A>T (n.461+2595A>T) c.534+2595A>T (n.534+2595A>T) | |
| 1 | g.179557084T>C | CA422025736 | NPHS2 | c.681A>G (p.Ala227=) c.535-2553A>G (n.535-2553A>G) c.504A>G (p.Ala168=) c.461+2595A>G (n.461+2595A>G) c.534+2595A>G (n.534+2595A>G) | |
| 1 | g.179557084T>G | CA422025737 | NPHS2 | c.681A>C (p.Ala227=) c.535-2553A>C (n.535-2553A>C) c.504A>C (p.Ala168=) c.461+2595A>C (n.461+2595A>C) c.534+2595A>C (n.534+2595A>C) | |
| 1 | g.179557085G>A | CA343567639 | NPHS2 | c.680C>T (p.Ala227Val) c.535-2554C>T (n.535-2554C>T) c.503C>T (p.Ala168Val) c.461+2594C>T (n.461+2594C>T) c.534+2594C>T (n.534+2594C>T) | gnomAD v4 |
| 1 | g.179557085G>C | CA343567641 | NPHS2 | c.680C>G (p.Ala227Gly) c.535-2554C>G (n.535-2554C>G) c.503C>G (p.Ala168Gly) c.461+2594C>G (n.461+2594C>G) c.534+2594C>G (n.534+2594C>G) | gnomAD v4 |
| 1 | g.179557085G>T | CA343567643 | NPHS2 | c.680C>A (p.Ala227Glu) c.535-2554C>A (n.535-2554C>A) c.503C>A (p.Ala168Glu) c.461+2594C>A (n.461+2594C>A) c.534+2594C>A (n.534+2594C>A) | |
| 1 | g.179557086C>A | CA343567646 | NPHS2 | c.679G>T (p.Ala227Ser) c.535-2555G>T (n.535-2555G>T) c.502G>T (p.Ala168Ser) c.461+2593G>T (n.461+2593G>T) c.534+2593G>T (n.534+2593G>T) | |
| 1 | g.179557086C>G | CA343567649 | NPHS2 | c.679G>C (p.Ala227Pro) c.535-2555G>C (n.535-2555G>C) c.502G>C (p.Ala168Pro) c.461+2593G>C (n.461+2593G>C) c.534+2593G>C (n.534+2593G>C) | |
| 1 | g.179557086C>T | CA343567644 | NPHS2 | c.679G>A (p.Ala227Thr) c.535-2555G>A (n.535-2555G>A) c.502G>A (p.Ala168Thr) c.461+2593G>A (n.461+2593G>A) c.534+2593G>A (n.534+2593G>A) | gnomAD v4 |
| 1 | g.179557087T>A | CA422025738 | NPHS2 | c.678A>T (p.Leu226=) c.535-2556A>T (n.535-2556A>T) c.501A>T (p.Leu167=) c.461+2592A>T (n.461+2592A>T) c.534+2592A>T (n.534+2592A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.179557087T>C | CA422025739 | NPHS2 | c.678A>G (p.Leu226=) c.535-2556A>G (n.535-2556A>G) c.501A>G (p.Leu167=) c.461+2592A>G (n.461+2592A>G) c.534+2592A>G (n.534+2592A>G) | |
| 1 | g.179557087T>G | CA422025740 | NPHS2 | c.678A>C (p.Leu226=) c.535-2556A>C (n.535-2556A>C) c.501A>C (p.Leu167=) c.461+2592A>C (n.461+2592A>C) c.534+2592A>C (n.534+2592A>C) | gnomAD v4 |
| 1 | g.179557087T= | CA1210319244 | NPHS2 | c.678A= (p.Leu226=) c.535-2556A= (n.535-2556A=) c.501A= (p.Leu167=) c.461+2592A= (n.461+2592A=) c.534+2592A= (n.534+2592A=) | |
| 1 | g.179557088A= | CA1210319245 | NPHS2 | c.677T= (p.Leu226=) c.535-2557T= (n.535-2557T=) c.500T= (p.Leu167=) c.461+2591T= (n.461+2591T=) c.534+2591T= (n.534+2591T=) | |
| 1 | g.179557088A>C | CA343567652 | NPHS2 | c.677T>G (p.Leu226Arg) c.535-2557T>G (n.535-2557T>G) c.500T>G (p.Leu167Arg) c.461+2591T>G (n.461+2591T>G) c.534+2591T>G (n.534+2591T>G) | |
| 1 | g.179557088A>G | CA343567654 | NPHS2 | c.677T>C (p.Leu226Pro) c.535-2557T>C (n.535-2557T>C) c.500T>C (p.Leu167Pro) c.461+2591T>C (n.461+2591T>C) c.534+2591T>C (n.534+2591T>C) | dbSNP |
| 1 | g.179557088A>T | CA343567656 | NPHS2 | c.677T>A (p.Leu226Gln) c.535-2557T>A (n.535-2557T>A) c.500T>A (p.Leu167Gln) c.461+2591T>A (n.461+2591T>A) c.534+2591T>A (n.534+2591T>A) | COSMIC |
| 1 | g.179557089G>A | CA422025741 | NPHS2 | c.676C>T (p.Leu226=) c.535-2558C>T (n.535-2558C>T) c.499C>T (p.Leu167=) c.461+2590C>T (n.461+2590C>T) c.534+2590C>T (n.534+2590C>T) | |
| 1 | g.179557089G>C | CA343567659 | NPHS2 | c.676C>G (p.Leu226Val) c.535-2558C>G (n.535-2558C>G) c.499C>G (p.Leu167Val) c.461+2590C>G (n.461+2590C>G) c.534+2590C>G (n.534+2590C>G) | |
| 1 | g.179557089G= | CA1210319246 | NPHS2 | c.676C= (p.Leu226=) c.535-2558C= (n.535-2558C=) c.499C= (p.Leu167=) c.461+2590C= (n.461+2590C=) c.534+2590C= (n.534+2590C=) | |
| 1 | g.179557089G>T | CA343567661 | NPHS2 | c.676C>A (p.Leu226Ile) c.535-2558C>A (n.535-2558C>A) c.499C>A (p.Leu167Ile) c.461+2590C>A (n.461+2590C>A) c.534+2590C>A (n.534+2590C>A) | dbSNP |
| 1 | g.179557090del | CA2580061530 | NPHS2 | c.676del (p.Leu226Ter) c.535-2558del (n.535-2558del) c.499del (p.Leu167Ter) c.461+2590del (n.461+2590del) c.534+2590del (n.534+2590del) | ClinVar |
| 1 | g.179557090G>A | CA422025742 | NPHS2 | c.675C>T (p.Leu225=) c.535-2559C>T (n.535-2559C>T) c.498C>T (p.Leu166=) c.461+2589C>T (n.461+2589C>T) c.534+2589C>T (n.534+2589C>T) | gnomAD v4 |
| 1 | g.179557090G>C | CA422025743 | NPHS2 | c.675C>G (p.Leu225=) c.535-2559C>G (n.535-2559C>G) c.498C>G (p.Leu166=) c.461+2589C>G (n.461+2589C>G) c.534+2589C>G (n.534+2589C>G) | |
| 1 | g.179557090G>T | CA422025744 | NPHS2 | c.675C>A (p.Leu225=) c.535-2559C>A (n.535-2559C>A) c.498C>A (p.Leu166=) c.461+2589C>A (n.461+2589C>A) c.534+2589C>A (n.534+2589C>A) | |
| 1 | g.179557091A>C | CA343567667 | NPHS2 | c.674T>G (p.Leu225Arg) c.535-2560T>G (n.535-2560T>G) c.497T>G (p.Leu166Arg) c.461+2588T>G (n.461+2588T>G) c.534+2588T>G (n.534+2588T>G) | |
| 1 | g.179557091A>G | CA343567663 | NPHS2 | c.674T>C (p.Leu225Pro) c.535-2560T>C (n.535-2560T>C) c.497T>C (p.Leu166Pro) c.461+2588T>C (n.461+2588T>C) c.534+2588T>C (n.534+2588T>C) | |
| 1 | g.179557091A>T | CA343567665 | NPHS2 | c.674T>A (p.Leu225His) c.535-2560T>A (n.535-2560T>A) c.497T>A (p.Leu166His) c.461+2588T>A (n.461+2588T>A) c.534+2588T>A (n.534+2588T>A) | |
| 1 | g.179557092G>A | CA343567669 | NPHS2 | c.673C>T (p.Leu225Phe) c.535-2561C>T (n.535-2561C>T) c.496C>T (p.Leu166Phe) c.461+2587C>T (n.461+2587C>T) c.534+2587C>T (n.534+2587C>T) | dbSNP gnomAD v4 |
| 1 | g.179557092G>C | CA343567670 | NPHS2 | c.673C>G (p.Leu225Val) c.535-2561C>G (n.535-2561C>G) c.496C>G (p.Leu166Val) c.461+2587C>G (n.461+2587C>G) c.534+2587C>G (n.534+2587C>G) | |
| 1 | g.179557092G= | CA1210319247 | NPHS2 | c.673C= (p.Leu225=) c.535-2561C= (n.535-2561C=) c.496C= (p.Leu166=) c.461+2587C= (n.461+2587C=) c.534+2587C= (n.534+2587C=) | |
| 1 | g.179557092G>T | CA343567672 | NPHS2 | c.673C>A (p.Leu225Ile) c.535-2561C>A (n.535-2561C>A) c.496C>A (p.Leu166Ile) c.461+2587C>A (n.461+2587C>A) c.534+2587C>A (n.534+2587C>A) | |
| 1 | g.179557093A>C | CA422025745 | NPHS2 | c.672T>G (p.Arg224=) c.535-2562T>G (n.535-2562T>G) c.495T>G (p.Arg165=) c.461+2586T>G (n.461+2586T>G) c.534+2586T>G (n.534+2586T>G) | |
| 1 | g.179557093A>G | CA422025746 | NPHS2 | c.672T>C (p.Arg224=) c.535-2562T>C (n.535-2562T>C) c.495T>C (p.Arg165=) c.461+2586T>C (n.461+2586T>C) c.534+2586T>C (n.534+2586T>C) | |
| 1 | g.179557093A>T | CA422025747 | NPHS2 | c.672T>A (p.Arg224=) c.535-2562T>A (n.535-2562T>A) c.495T>A (p.Arg165=) c.461+2586T>A (n.461+2586T>A) c.534+2586T>A (n.534+2586T>A) | ClinVar |
| 1 | g.179557094C>A | CA343567674 | NPHS2 | c.671G>T (p.Arg224Leu) c.535-2563G>T (n.535-2563G>T) c.494G>T (p.Arg165Leu) c.461+2585G>T (n.461+2585G>T) c.534+2585G>T (n.534+2585G>T) | |
| 1 | g.179557094C= | CA1141624900 | NPHS2 | c.671G= (p.Arg224=) c.535-2563G= (n.535-2563G=) c.494G= (p.Arg165=) c.461+2585G= (n.461+2585G=) c.534+2585G= (n.534+2585G=) | |
| 1 | g.179557094C>G | CA343567676 | NPHS2 | c.671G>C (p.Arg224Pro) c.535-2563G>C (n.535-2563G>C) c.494G>C (p.Arg165Pro) c.461+2585G>C (n.461+2585G>C) c.534+2585G>C (n.534+2585G>C) | |
| 1 | g.179557094C>T | CA1267156 | NPHS2 | c.671G>A (p.Arg224His) c.535-2563G>A (n.535-2563G>A) c.494G>A (p.Arg165His) c.461+2585G>A (n.461+2585G>A) c.534+2585G>A (n.534+2585G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.179557095G>A | CA1267157 | NPHS2 | c.670C>T (p.Arg224Cys) c.535-2564C>T (n.535-2564C>T) c.493C>T (p.Arg165Cys) c.461+2584C>T (n.461+2584C>T) c.534+2584C>T (n.534+2584C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.179557095G>C | CA343567678 | NPHS2 | c.670C>G (p.Arg224Gly) c.535-2564C>G (n.535-2564C>G) c.493C>G (p.Arg165Gly) c.461+2584C>G (n.461+2584C>G) c.534+2584C>G (n.534+2584C>G) | gnomAD v4 |
| 1 | g.179557095G= | CA1143940533 | NPHS2 | c.670C= (p.Arg224=) c.535-2564C= (n.535-2564C=) c.493C= (p.Arg165=) c.461+2584C= (n.461+2584C=) c.534+2584C= (n.534+2584C=) | |
| 1 | g.179557095G>T | CA343567677 | NPHS2 | c.670C>A (p.Arg224Ser) c.535-2564C>A (n.535-2564C>A) c.493C>A (p.Arg165Ser) c.461+2584C>A (n.461+2584C>A) c.534+2584C>A (n.534+2584C>A) | |
| 1 | g.179557096C>A | CA343567683 | NPHS2 | c.669G>T (p.Lys223Asn) c.535-2565G>T (n.535-2565G>T) c.492G>T (p.Lys164Asn) c.461+2583G>T (n.461+2583G>T) c.534+2583G>T (n.534+2583G>T) | |
| 1 | g.179557096C>G | CA343567681 | NPHS2 | c.669G>C (p.Lys223Asn) c.535-2565G>C (n.535-2565G>C) c.492G>C (p.Lys164Asn) c.461+2583G>C (n.461+2583G>C) c.534+2583G>C (n.534+2583G>C) | |
| 1 | g.179557096C>T | CA422025748 | NPHS2 | c.669G>A (p.Lys223=) c.535-2565G>A (n.535-2565G>A) c.492G>A (p.Lys164=) c.461+2583G>A (n.461+2583G>A) c.534+2583G>A (n.534+2583G>A) | |
| 1 | g.179557097T>A | CA343567685 | NPHS2 | c.668A>T (p.Lys223Met) c.535-2566A>T (n.535-2566A>T) c.491A>T (p.Lys164Met) c.461+2582A>T (n.461+2582A>T) c.534+2582A>T (n.534+2582A>T) | |
| 1 | g.179557097T>C | CA343567687 | NPHS2 | c.668A>G (p.Lys223Arg) c.535-2566A>G (n.535-2566A>G) c.491A>G (p.Lys164Arg) c.461+2582A>G (n.461+2582A>G) c.534+2582A>G (n.534+2582A>G) | COSMIC |
| 1 | g.179557097T>G | CA343567689 | NPHS2 | c.668A>C (p.Lys223Thr) c.535-2566A>C (n.535-2566A>C) c.491A>C (p.Lys164Thr) c.461+2582A>C (n.461+2582A>C) c.534+2582A>C (n.534+2582A>C) | |
| 1 | g.179557098T>A | CA343567691 | NPHS2 | c.667A>T (p.Lys223Ter) c.535-2567A>T (n.535-2567A>T) c.490A>T (p.Lys164Ter) c.461+2581A>T (n.461+2581A>T) c.534+2581A>T (n.534+2581A>T) |