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 |
|---|---|---|---|---|---|
| 5 | g.128357293G>A | CA360767305 | FBN2 | c.2657C>T (p.Thr886Ile) c.2558C>T (p.Thr853Ile) c.2654C>T (p.Thr885Ile) c.2504C>T (p.Thr835Ile) | |
| 5 | g.128357293G>C | CA360767302 | FBN2 | c.2657C>G (p.Thr886Arg) c.2558C>G (p.Thr853Arg) c.2654C>G (p.Thr885Arg) c.2504C>G (p.Thr835Arg) | |
| 5 | g.128357293G>T | CA360767303 | FBN2 | c.2657C>A (p.Thr886Lys) c.2558C>A (p.Thr853Lys) c.2654C>A (p.Thr885Lys) c.2504C>A (p.Thr835Lys) | |
| 5 | g.128357294T>A | CA360767307 | FBN2 | c.2656A>T (p.Thr886Ser) c.2557A>T (p.Thr853Ser) c.2653A>T (p.Thr885Ser) c.2503A>T (p.Thr835Ser) | |
| 5 | g.128357294T>C | CA360767308 | FBN2 | c.2656A>G (p.Thr886Ala) c.2557A>G (p.Thr853Ala) c.2653A>G (p.Thr885Ala) c.2503A>G (p.Thr835Ala) | |
| 5 | g.128357294T>G | CA360767309 | FBN2 | c.2656A>C (p.Thr886Pro) c.2557A>C (p.Thr853Pro) c.2653A>C (p.Thr885Pro) c.2503A>C (p.Thr835Pro) | |
| 5 | g.128357295G>A | CA446312310 | FBN2 | c.2655C>T (p.Ser885=) c.2556C>T (p.Ser852=) c.2652C>T (p.Ser884=) c.2502C>T (p.Ser834=) | gnomAD v4 |
| 5 | g.128357295G>C | CA446312312 | FBN2 | c.2655C>G (p.Ser885=) c.2556C>G (p.Ser852=) c.2652C>G (p.Ser884=) c.2502C>G (p.Ser834=) | |
| 5 | g.128357295G>T | CA446312311 | FBN2 | c.2655C>A (p.Ser885=) c.2556C>A (p.Ser852=) c.2652C>A (p.Ser884=) c.2502C>A (p.Ser834=) | |
| 5 | g.128357296G>A | CA360767310 | FBN2 | c.2654C>T (p.Ser885Phe) c.2555C>T (p.Ser852Phe) c.2651C>T (p.Ser884Phe) c.2501C>T (p.Ser834Phe) | |
| 5 | g.128357296G>C | CA360767311 | FBN2 | c.2654C>G (p.Ser885Cys) c.2555C>G (p.Ser852Cys) c.2651C>G (p.Ser884Cys) c.2501C>G (p.Ser834Cys) | gnomAD v4 |
| 5 | g.128357296G= | CA1581282257 | FBN2 | c.2654C= (p.Ser885=) c.2555C= (p.Ser852=) c.2651C= (p.Ser884=) c.2501C= (p.Ser834=) | |
| 5 | g.128357296G>T | CA127026841 | FBN2 | c.2654C>A (p.Ser885Tyr) c.2555C>A (p.Ser852Tyr) c.2651C>A (p.Ser884Tyr) c.2501C>A (p.Ser834Tyr) | dbSNP |
| 5 | g.128357297A>C | CA360767314 | FBN2 | c.2653T>G (p.Ser885Ala) c.2554T>G (p.Ser852Ala) c.2650T>G (p.Ser884Ala) c.2500T>G (p.Ser834Ala) | |
| 5 | g.128357297A>G | CA360767316 | FBN2 | c.2653T>C (p.Ser885Pro) c.2554T>C (p.Ser852Pro) c.2650T>C (p.Ser884Pro) c.2500T>C (p.Ser834Pro) | |
| 5 | g.128357297A>T | CA360767317 | FBN2 | c.2653T>A (p.Ser885Thr) c.2554T>A (p.Ser852Thr) c.2650T>A (p.Ser884Thr) c.2500T>A (p.Ser834Thr) | |
| 5 | g.128357298G>A | CA446312313 | FBN2 | c.2652C>T (p.Ser884=) c.2553C>T (p.Ser851=) c.2649C>T (p.Ser883=) c.2499C>T (p.Ser833=) | gnomAD v4 |
| 5 | g.128357298G>C | CA360767319 | FBN2 | c.2652C>G (p.Ser884Arg) c.2553C>G (p.Ser851Arg) c.2649C>G (p.Ser883Arg) c.2499C>G (p.Ser833Arg) | |
| 5 | g.128357298G>T | CA360767321 | FBN2 | c.2652C>A (p.Ser884Arg) c.2553C>A (p.Ser851Arg) c.2649C>A (p.Ser883Arg) c.2499C>A (p.Ser833Arg) | |
| 5 | g.128357299C>A | CA360767322 | FBN2 | c.2651G>T (p.Ser884Ile) c.2552G>T (p.Ser851Ile) c.2648G>T (p.Ser883Ile) c.2498G>T (p.Ser833Ile) | |
| 5 | g.128357299C= | CA1581282258 | FBN2 | c.2651G= (p.Ser884=) c.2552G= (p.Ser851=) c.2648G= (p.Ser883=) c.2498G= (p.Ser833=) | |
| 5 | g.128357299C>G | CA322791 | FBN2 | c.2651G>C (p.Ser884Thr) c.2552G>C (p.Ser851Thr) c.2648G>C (p.Ser883Thr) c.2498G>C (p.Ser833Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128357299C>T | CA360767326 | FBN2 | c.2651G>A (p.Ser884Asn) c.2552G>A (p.Ser851Asn) c.2648G>A (p.Ser883Asn) c.2498G>A (p.Ser833Asn) | dbSNP |
| 5 | g.128357300T>A | CA360767329 | FBN2 | c.2650A>T (p.Ser884Cys) c.2551A>T (p.Ser851Cys) c.2647A>T (p.Ser883Cys) c.2497A>T (p.Ser833Cys) | |
| 5 | g.128357300T>C | CA360767330 | FBN2 | c.2650A>G (p.Ser884Gly) c.2551A>G (p.Ser851Gly) c.2647A>G (p.Ser883Gly) c.2497A>G (p.Ser833Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128357300T>G | CA360767331 | FBN2 | c.2650A>C (p.Ser884Arg) c.2551A>C (p.Ser851Arg) c.2647A>C (p.Ser883Arg) c.2497A>C (p.Ser833Arg) | gnomAD v4 |
| 5 | g.128357300T= | CA1581282259 | FBN2 | c.2650A= (p.Ser884=) c.2551A= (p.Ser851=) c.2647A= (p.Ser883=) c.2497A= (p.Ser833=) | |
| 5 | g.128357301G>A | CA446312314 | FBN2 | c.2649C>T (p.Leu883=) c.2550C>T (p.Leu850=) c.2646C>T (p.Leu882=) c.2496C>T (p.Leu832=) | |
| 5 | g.128357301G>C | CA446312315 | FBN2 | c.2649C>G (p.Leu883=) c.2550C>G (p.Leu850=) c.2646C>G (p.Leu882=) c.2496C>G (p.Leu832=) | gnomAD v4 |
| 5 | g.128357301G>T | CA446312316 | FBN2 | c.2649C>A (p.Leu883=) c.2550C>A (p.Leu850=) c.2646C>A (p.Leu882=) c.2496C>A (p.Leu832=) | |
| 5 | g.128357302A>C | CA360767332 | FBN2 | c.2648T>G (p.Leu883Arg) c.2549T>G (p.Leu850Arg) c.2645T>G (p.Leu882Arg) c.2495T>G (p.Leu832Arg) | |
| 5 | g.128357302A>G | CA360767333 | FBN2 | c.2648T>C (p.Leu883Pro) c.2549T>C (p.Leu850Pro) c.2645T>C (p.Leu882Pro) c.2495T>C (p.Leu832Pro) | |
| 5 | g.128357302A>T | CA360767334 | FBN2 | c.2648T>A (p.Leu883His) c.2549T>A (p.Leu850His) c.2645T>A (p.Leu882His) c.2495T>A (p.Leu832His) | ClinVar |
| 5 | g.128357303G>A | CA360767335 | FBN2 | c.2647C>T (p.Leu883Phe) c.2548C>T (p.Leu850Phe) c.2644C>T (p.Leu882Phe) c.2494C>T (p.Leu832Phe) | |
| 5 | g.128357303G>C | CA360767336 | FBN2 | c.2647C>G (p.Leu883Val) c.2548C>G (p.Leu850Val) c.2644C>G (p.Leu882Val) c.2494C>G (p.Leu832Val) | |
| 5 | g.128357303G>T | CA360767337 | FBN2 | c.2647C>A (p.Leu883Ile) c.2548C>A (p.Leu850Ile) c.2644C>A (p.Leu882Ile) c.2494C>A (p.Leu832Ile) | |
| 5 | g.128357304T>A | CA360767338 | FBN2 | c.2646A>T (p.Lys882Asn) c.2547A>T (p.Lys849Asn) c.2643A>T (p.Lys881Asn) c.2493A>T (p.Lys831Asn) | |
| 5 | g.128357304T>C | CA127026858 | FBN2 | c.2646A>G (p.Lys882=) c.2547A>G (p.Lys849=) c.2643A>G (p.Lys881=) c.2493A>G (p.Lys831=) | ClinVar dbSNP |
| 5 | g.128357304T>G | CA360767339 | FBN2 | c.2646A>C (p.Lys882Asn) c.2547A>C (p.Lys849Asn) c.2643A>C (p.Lys881Asn) c.2493A>C (p.Lys831Asn) | COSMIC COSMIC |
| 5 | g.128357304T= | CA1581282260 | FBN2 | c.2646A= (p.Lys882=) c.2547A= (p.Lys849=) c.2643A= (p.Lys881=) c.2493A= (p.Lys831=) | |
| 5 | g.128357305T>A | CA360767341 | FBN2 | c.2645A>T (p.Lys882Ile) c.2546A>T (p.Lys849Ile) c.2642A>T (p.Lys881Ile) c.2492A>T (p.Lys831Ile) | |
| 5 | g.128357305T>C | CA360767342 | FBN2 | c.2645A>G (p.Lys882Arg) c.2546A>G (p.Lys849Arg) c.2642A>G (p.Lys881Arg) c.2492A>G (p.Lys831Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128357305T>G | CA360767340 | FBN2 | c.2645A>C (p.Lys882Thr) c.2546A>C (p.Lys849Thr) c.2642A>C (p.Lys881Thr) c.2492A>C (p.Lys831Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128357305T= | CA1581282261 | FBN2 | c.2645A= (p.Lys882=) c.2546A= (p.Lys849=) c.2642A= (p.Lys881=) c.2492A= (p.Lys831=) | |
| 5 | g.128357306T>A | CA360767343 | FBN2 | c.2644A>T (p.Lys882Ter) c.2545A>T (p.Lys849Ter) c.2641A>T (p.Lys881Ter) c.2491A>T (p.Lys831Ter) | |
| 5 | g.128357306T>C | CA360767344 | FBN2 | c.2644A>G (p.Lys882Glu) c.2545A>G (p.Lys849Glu) c.2641A>G (p.Lys881Glu) c.2491A>G (p.Lys831Glu) | |
| 5 | g.128357306T>G | CA360767345 | FBN2 | c.2644A>C (p.Lys882Gln) c.2545A>C (p.Lys849Gln) c.2641A>C (p.Lys881Gln) c.2491A>C (p.Lys831Gln) | gnomAD v4 |
| 5 | g.128357307G>A | CA446312317 | FBN2 | c.2643C>T (p.Ser881=) c.2544C>T (p.Ser848=) c.2640C>T (p.Ser880=) c.2490C>T (p.Ser830=) | |
| 5 | g.128357307G>C | CA360767346 | FBN2 | c.2643C>G (p.Ser881Arg) c.2544C>G (p.Ser848Arg) c.2640C>G (p.Ser880Arg) c.2490C>G (p.Ser830Arg) | |
| 5 | g.128357307G>T | CA360767347 | FBN2 | c.2643C>A (p.Ser881Arg) c.2544C>A (p.Ser848Arg) c.2640C>A (p.Ser880Arg) c.2490C>A (p.Ser830Arg) |