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 |
|---|---|---|---|---|---|
| 17 | g.50189520_50189521delinsCA | CA2263915703 | COL1A1 | c.2685_2686delinsTG (p.Pro895=) c.2667+158_2667+159delinsTG (n.2667+158_2667+159delinsTG) c.1767_1768delinsTG (p.Pro589=) c.2487_2488delinsTG (p.Pro829=) | |
| 17 | g.50189521del | CA260301 | COL1A1 | c.2685del (p.Gly896AlafsTer?) c.2667+158del (n.2667+158del) c.1767del (p.Gly590AlafsTer?) c.2487del (p.Gly830AlafsTer?) | ClinVar dbSNP |
| 17 | g.50189521A>C | CA500992200 | COL1A1 | c.2685T>G (p.Pro895=) c.2667+158T>G (n.2667+158T>G) c.1767T>G (p.Pro589=) c.2487T>G (p.Pro829=) | |
| 17 | g.50189521A>G | CA500992201 | COL1A1 | c.2685T>C (p.Pro895=) c.2667+158T>C (n.2667+158T>C) c.1767T>C (p.Pro589=) c.2487T>C (p.Pro829=) | |
| 17 | g.50189521A>T | CA500992202 | COL1A1 | c.2685T>A (p.Pro895=) c.2667+158T>A (n.2667+158T>A) c.1767T>A (p.Pro589=) c.2487T>A (p.Pro829=) | |
| 17 | g.50189521_50189522delinsAG | CA2263915704 | COL1A1 | c.2684_2685delinsCT (p.Pro895=) c.2667+157_2667+158delinsCT (n.2667+157_2667+158delinsCT) c.1766_1767delinsCT (p.Pro589=) c.2486_2487delinsCT (p.Pro829=) | |
| 17 | g.50189522G>A | CA291543207 | COL1A1 | c.2684C>T (p.Pro895Leu) c.2667+157C>T (n.2667+157C>T) c.1766C>T (p.Pro589Leu) c.2486C>T (p.Pro829Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50189522G>C | CA400206039 | COL1A1 | c.2684C>G (p.Pro895Arg) c.2667+157C>G (n.2667+157C>G) c.1766C>G (p.Pro589Arg) c.2486C>G (p.Pro829Arg) | |
| 17 | g.50189522G= | CA2263915705 | COL1A1 | c.2684C= (p.Pro895=) c.2667+157C= (n.2667+157C=) c.1766C= (p.Pro589=) c.2486C= (p.Pro829=) | |
| 17 | g.50189522G>T | CA400206041 | COL1A1 | c.2684C>A (p.Pro895His) c.2667+157C>A (n.2667+157C>A) c.1766C>A (p.Pro589His) c.2486C>A (p.Pro829His) | |
| 17 | g.50189526dup | CA891843991 | COL1A1 | c.2684dup (p.Gly896TrpfsTer17) c.2667+157dup (n.2667+157dup) c.1766dup (p.Gly590TrpfsTer17) c.2486dup (p.Gly830TrpfsTer17) | ClinVar dbSNP |
| 17 | g.50189526del | CA291543204 | COL1A1 | c.2684del (p.Pro895LeufsTer?) c.2667+157del (n.2667+157del) c.1766del (p.Pro589LeufsTer?) c.2486del (p.Pro829LeufsTer?) | ClinVar dbSNP |
| 17 | g.50189523G>A | CA400206044 | COL1A1 | c.2683C>T (p.Pro895Ser) c.2667+156C>T (n.2667+156C>T) c.1765C>T (p.Pro589Ser) c.2485C>T (p.Pro829Ser) | |
| 17 | g.50189523G>C | CA400206046 | COL1A1 | c.2683C>G (p.Pro895Ala) c.2667+156C>G (n.2667+156C>G) c.1765C>G (p.Pro589Ala) c.2485C>G (p.Pro829Ala) | |
| 17 | g.50189523G>T | CA400206048 | COL1A1 | c.2683C>A (p.Pro895Thr) c.2667+156C>A (n.2667+156C>A) c.1765C>A (p.Pro589Thr) c.2485C>A (p.Pro829Thr) | |
| 17 | g.50189524G>A | CA500992203 | COL1A1 | c.2682C>T (p.Pro894=) c.2667+155C>T (n.2667+155C>T) c.1764C>T (p.Pro588=) c.2484C>T (p.Pro828=) | |
| 17 | g.50189524G>C | CA500992204 | COL1A1 | c.2682C>G (p.Pro894=) c.2667+155C>G (n.2667+155C>G) c.1764C>G (p.Pro588=) c.2484C>G (p.Pro828=) | |
| 17 | g.50189524G= | CA2263915706 | COL1A1 | c.2682C= (p.Pro894=) c.2667+155C= (n.2667+155C=) c.1764C= (p.Pro588=) c.2484C= (p.Pro828=) | |
| 17 | g.50189524G>T | CA500992205 | COL1A1 | c.2682C>A (p.Pro894=) c.2667+155C>A (n.2667+155C>A) c.1764C>A (p.Pro588=) c.2484C>A (p.Pro828=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50189525G>A | CA400206051 | COL1A1 | c.2681C>T (p.Pro894Leu) c.2667+154C>T (n.2667+154C>T) c.1763C>T (p.Pro588Leu) c.2483C>T (p.Pro828Leu) | |
| 17 | g.50189525G>C | CA400206054 | COL1A1 | c.2681C>G (p.Pro894Arg) c.2667+154C>G (n.2667+154C>G) c.1763C>G (p.Pro588Arg) c.2483C>G (p.Pro828Arg) | |
| 17 | g.50189525G= | CA2263915707 | COL1A1 | c.2681C= (p.Pro894=) c.2667+154C= (n.2667+154C=) c.1763C= (p.Pro588=) c.2483C= (p.Pro828=) | |
| 17 | g.50189525G>T | CA8644699 | COL1A1 | c.2681C>A (p.Pro894His) c.2667+154C>A (n.2667+154C>A) c.1763C>A (p.Pro588His) c.2483C>A (p.Pro828His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50189526G>A | CA400206061 | COL1A1 | c.2680C>T (p.Pro894Ser) c.2667+153C>T (n.2667+153C>T) c.1762C>T (p.Pro588Ser) c.2482C>T (p.Pro828Ser) | ClinVar gnomAD v4 |
| 17 | g.50189526G>C | CA400206060 | COL1A1 | c.2680C>G (p.Pro894Ala) c.2667+153C>G (n.2667+153C>G) c.1762C>G (p.Pro588Ala) c.2482C>G (p.Pro828Ala) | |
| 17 | g.50189526G>T | CA400206057 | COL1A1 | c.2680C>A (p.Pro894Thr) c.2667+153C>A (n.2667+153C>A) c.1762C>A (p.Pro588Thr) c.2482C>A (p.Pro828Thr) | |
| 17 | g.50189527T>A | CA500992208 | COL1A1 | c.2679A>T (p.Gly893=) c.2667+152A>T (n.2667+152A>T) c.1761A>T (p.Gly587=) c.2481A>T (p.Gly827=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50189527T>C | CA500992206 | COL1A1 | c.2679A>G (p.Gly893=) c.2667+152A>G (n.2667+152A>G) c.1761A>G (p.Gly587=) c.2481A>G (p.Gly827=) | |
| 17 | g.50189527T>G | CA500992207 | COL1A1 | c.2679A>C (p.Gly893=) c.2667+152A>C (n.2667+152A>C) c.1761A>C (p.Gly587=) c.2481A>C (p.Gly827=) | dbSNP |
| 17 | g.50189528C>A | CA400206064 | COL1A1 | c.2678G>T (p.Gly893Val) c.2667+151G>T (n.2667+151G>T) c.1760G>T (p.Gly587Val) c.2480G>T (p.Gly827Val) | |
| 17 | g.50189528C>G | CA400206066 | COL1A1 | c.2678G>C (p.Gly893Ala) c.2667+151G>C (n.2667+151G>C) c.1760G>C (p.Gly587Ala) c.2480G>C (p.Gly827Ala) | ClinVar dbSNP |
| 17 | g.50189528C>T | CA400206067 | COL1A1 | c.2678G>A (p.Gly893Glu) c.2667+151G>A (n.2667+151G>A) c.1760G>A (p.Gly587Glu) c.2480G>A (p.Gly827Glu) | |
| 17 | g.50189529C>A | CA400206070 | COL1A1 | c.2677G>T (p.Gly893Ter) c.2667+150G>T (n.2667+150G>T) c.1759G>T (p.Gly587Ter) c.2479G>T (p.Gly827Ter) | |
| 17 | g.50189529C>G | CA400206072 | COL1A1 | c.2677G>C (p.Gly893Arg) c.2667+150G>C (n.2667+150G>C) c.1759G>C (p.Gly587Arg) c.2479G>C (p.Gly827Arg) | |
| 17 | g.50189529C>T | CA400206074 | COL1A1 | c.2677G>A (p.Gly893Arg) c.2667+150G>A (n.2667+150G>A) c.1759G>A (p.Gly587Arg) c.2479G>A (p.Gly827Arg) | |
| 17 | g.50189530A>C | CA500992209 | COL1A1 | c.2676T>G (p.Ala892=) c.2667+149T>G (n.2667+149T>G) c.1758T>G (p.Ala586=) c.2478T>G (p.Ala826=) | |
| 17 | g.50189530A>G | CA500992210 | COL1A1 | c.2676T>C (p.Ala892=) c.2667+149T>C (n.2667+149T>C) c.1758T>C (p.Ala586=) c.2478T>C (p.Ala826=) | |
| 17 | g.50189530A>T | CA500992211 | COL1A1 | c.2676T>A (p.Ala892=) c.2667+149T>A (n.2667+149T>A) c.1758T>A (p.Ala586=) c.2478T>A (p.Ala826=) | |
| 17 | g.50189531G>A | CA400206076 | COL1A1 | c.2675C>T (p.Ala892Val) c.2667+148C>T (n.2667+148C>T) c.1757C>T (p.Ala586Val) c.2477C>T (p.Ala826Val) | |
| 17 | g.50189531G>C | CA400206077 | COL1A1 | c.2675C>G (p.Ala892Gly) c.2667+148C>G (n.2667+148C>G) c.1757C>G (p.Ala586Gly) c.2477C>G (p.Ala826Gly) | |
| 17 | g.50189531G= | CA2263915708 | COL1A1 | c.2675C= (p.Ala892=) c.2667+148C= (n.2667+148C=) c.1757C= (p.Ala586=) c.2477C= (p.Ala826=) | |
| 17 | g.50189531G>T | CA400206081 | COL1A1 | c.2675C>A (p.Ala892Asp) c.2667+148C>A (n.2667+148C>A) c.1757C>A (p.Ala586Asp) c.2477C>A (p.Ala826Asp) | dbSNP |
| 17 | g.50189532C>A | CA400206083 | COL1A1 | c.2674G>T (p.Ala892Ser) c.2667+147G>T (n.2667+147G>T) c.1756G>T (p.Ala586Ser) c.2476G>T (p.Ala826Ser) | |
| 17 | g.50189532C= | CA2263915709 | COL1A1 | c.2674G= (p.Ala892=) c.2667+147G= (n.2667+147G=) c.1756G= (p.Ala586=) c.2476G= (p.Ala826=) | |
| 17 | g.50189532C>G | CA291543209 | COL1A1 | c.2674G>C (p.Ala892Pro) c.2667+147G>C (n.2667+147G>C) c.1756G>C (p.Ala586Pro) c.2476G>C (p.Ala826Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50189532C>T | CA400206086 | COL1A1 | c.2674G>A (p.Ala892Thr) c.2667+147G>A (n.2667+147G>A) c.1756G>A (p.Ala586Thr) c.2476G>A (p.Ala826Thr) | gnomAD v4 |
| 17 | g.50189533A= | CA2263915710 | COL1A1 | c.2673T= (p.Asn891=) c.2667+146T= (n.2667+146T=) c.1755T= (p.Asn585=) c.2475T= (p.Asn825=) | |
| 17 | g.50189533A>C | CA400206088 | COL1A1 | c.2673T>G (p.Asn891Lys) c.2667+146T>G (n.2667+146T>G) c.1755T>G (p.Asn585Lys) c.2475T>G (p.Asn825Lys) | gnomAD v4 |
| 17 | g.50189533A>G | CA500992212 | COL1A1 | c.2673T>C (p.Asn891=) c.2667+146T>C (n.2667+146T>C) c.1755T>C (p.Asn585=) c.2475T>C (p.Asn825=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50189533A>T | CA400206090 | COL1A1 | c.2673T>A (p.Asn891Lys) c.2667+146T>A (n.2667+146T>A) c.1755T>A (p.Asn585Lys) c.2475T>A (p.Asn825Lys) |