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 |
|---|---|---|---|---|---|
| 15 | g.75392404G>A | CA16620009 | SIN3A | c.2689C>T (p.Arg897Ter) c.2011C>T (p.Arg671Ter) c.*2643C>T (n.*2643C>T) c.2799C>T (n.2799C>T) c.1586C>T | ClinVar dbSNP COSMIC |
| 15 | g.75392404G>C | CA393490659 | SIN3A | c.2689C>G (p.Arg897Gly) c.2011C>G (p.Arg671Gly) c.*2643C>G (n.*2643C>G) c.2799C>G (n.2799C>G) c.1586C>G | |
| 15 | g.75392404G= | CA2188126752 | SIN3A | c.2689C= (p.Arg897=) c.2011C= (p.Arg671=) c.*2643C= (n.*2643C=) c.2799C= (n.2799C=) c.1586C= | |
| 15 | g.75392404G>T | CA491497185 | SIN3A | c.2689C>A (p.Arg897=) c.2011C>A (p.Arg671=) c.*2643C>A (n.*2643C>A) c.2799C>A (n.2799C>A) c.1586C>A | |
| 15 | g.75392405C>A | CA393490660 | SIN3A | c.2688G>T (p.Met896Ile) c.2010G>T (p.Met670Ile) c.*2642G>T (n.*2642G>T) c.2798G>T (n.2798G>T) c.1585G>T | |
| 15 | g.75392405C= | CA2188126762 | SIN3A | c.2688G= (p.Met896=) c.2010G= (p.Met670=) c.*2642G= (n.*2642G=) c.2798G= (n.2798G=) c.1585G= | |
| 15 | g.75392405C>G | CA393490661 | SIN3A | c.2688G>C (p.Met896Ile) c.2010G>C (p.Met670Ile) c.*2642G>C (n.*2642G>C) c.2798G>C (n.2798G>C) c.1585G>C | |
| 15 | g.75392405C>T | CA393490662 | SIN3A | c.2688G>A (p.Met896Ile) c.2010G>A (p.Met670Ile) c.*2642G>A (n.*2642G>A) c.2798G>A (n.2798G>A) c.1585G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.75392406A>C | CA393490664 | SIN3A | c.2687T>G (p.Met896Arg) c.2009T>G (p.Met670Arg) c.*2641T>G (n.*2641T>G) c.2797T>G (n.2797T>G) c.1584T>G | |
| 15 | g.75392406A>G | CA393490665 | SIN3A | c.2687T>C (p.Met896Thr) c.2009T>C (p.Met670Thr) c.*2641T>C (n.*2641T>C) c.2797T>C (n.2797T>C) c.1584T>C | |
| 15 | g.75392406A>T | CA393490663 | SIN3A | c.2687T>A (p.Met896Lys) c.2009T>A (p.Met670Lys) c.*2641T>A (n.*2641T>A) c.2797T>A (n.2797T>A) c.1584T>A | |
| 15 | g.75392407T>A | CA393490668 | SIN3A | c.2686A>T (p.Met896Leu) c.2008A>T (p.Met670Leu) c.*2640A>T (n.*2640A>T) c.2796A>T (n.2796A>T) c.1583A>T | |
| 15 | g.75392407T>C | CA393490666 | SIN3A | c.2686A>G (p.Met896Val) c.2008A>G (p.Met670Val) c.*2640A>G (n.*2640A>G) c.2796A>G (n.2796A>G) c.1583A>G | |
| 15 | g.75392407T>G | CA393490667 | SIN3A | c.2686A>C (p.Met896Leu) c.2008A>C (p.Met670Leu) c.*2640A>C (n.*2640A>C) c.2796A>C (n.2796A>C) c.1583A>C | |
| 15 | g.75392408A>C | CA393490669 | SIN3A | c.2685T>G (p.Phe895Leu) c.2007T>G (p.Phe669Leu) c.*2639T>G (n.*2639T>G) c.2795T>G (n.2795T>G) c.1582T>G | |
| 15 | g.75392408A>G | CA491497194 | SIN3A | c.2685T>C (p.Phe895=) c.2007T>C (p.Phe669=) c.*2639T>C (n.*2639T>C) c.2795T>C (n.2795T>C) c.1582T>C | gnomAD v4 |
| 15 | g.75392408A>T | CA393490670 | SIN3A | c.2685T>A (p.Phe895Leu) c.2007T>A (p.Phe669Leu) c.*2639T>A (n.*2639T>A) c.2795T>A (n.2795T>A) c.1582T>A | |
| 15 | g.75392409A>C | CA393490671 | SIN3A | c.2684T>G (p.Phe895Cys) c.2006T>G (p.Phe669Cys) c.*2638T>G (n.*2638T>G) c.2794T>G (n.2794T>G) c.1581T>G | |
| 15 | g.75392409A>G | CA393490672 | SIN3A | c.2684T>C (p.Phe895Ser) c.2006T>C (p.Phe669Ser) c.*2638T>C (n.*2638T>C) c.2794T>C (n.2794T>C) c.1581T>C | |
| 15 | g.75392409A>T | CA393490673 | SIN3A | c.2684T>A (p.Phe895Tyr) c.2006T>A (p.Phe669Tyr) c.*2638T>A (n.*2638T>A) c.2794T>A (n.2794T>A) c.1581T>A | |
| 15 | g.75392410A= | CA2188126766 | SIN3A | c.2683T= (p.Phe895=) c.2005T= (p.Phe669=) c.*2637T= (n.*2637T=) c.2793T= (n.2793T=) c.1580T= | |
| 15 | g.75392410A>C | CA393490674 | SIN3A | c.2683T>G (p.Phe895Val) c.2005T>G (p.Phe669Val) c.*2637T>G (n.*2637T>G) c.2793T>G (n.2793T>G) c.1580T>G | |
| 15 | g.75392410A>G | CA7667423 | SIN3A | c.2683T>C (p.Phe895Leu) c.2005T>C (p.Phe669Leu) c.*2637T>C (n.*2637T>C) c.2793T>C (n.2793T>C) c.1580T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.75392410A>T | CA393490675 | SIN3A | c.2683T>A (p.Phe895Ile) c.2005T>A (p.Phe669Ile) c.*2637T>A (n.*2637T>A) c.2793T>A (n.2793T>A) c.1580T>A | |
| 15 | g.75392411A>C | CA393490676 | SIN3A | c.2682T>G (p.Ile894Met) c.2004T>G (p.Ile668Met) c.*2636T>G (n.*2636T>G) c.2792T>G (n.2792T>G) c.1579T>G | |
| 15 | g.75392411A>G | CA491497198 | SIN3A | c.2682T>C (p.Ile894=) c.2004T>C (p.Ile668=) c.*2636T>C (n.*2636T>C) c.2792T>C (n.2792T>C) c.1579T>C | |
| 15 | g.75392411A>T | CA491497199 | SIN3A | c.2682T>A (p.Ile894=) c.2004T>A (p.Ile668=) c.*2636T>A (n.*2636T>A) c.2792T>A (n.2792T>A) c.1579T>A | |
| 15 | g.75392412A>C | CA393490677 | SIN3A | c.2681T>G (p.Ile894Ser) c.2003T>G (p.Ile668Ser) c.*2635T>G (n.*2635T>G) c.2791T>G (n.2791T>G) c.1578T>G | |
| 15 | g.75392412A>G | CA393490678 | SIN3A | c.2681T>C (p.Ile894Thr) c.2003T>C (p.Ile668Thr) c.*2635T>C (n.*2635T>C) c.2791T>C (n.2791T>C) c.1578T>C | |
| 15 | g.75392412A>T | CA393490679 | SIN3A | c.2681T>A (p.Ile894Asn) c.2003T>A (p.Ile668Asn) c.*2635T>A (n.*2635T>A) c.2791T>A (n.2791T>A) c.1578T>A | |
| 15 | g.75392413T>A | CA393490680 | SIN3A | c.2680A>T (p.Ile894Phe) c.2002A>T (p.Ile668Phe) c.*2634A>T (n.*2634A>T) c.2790A>T (n.2790A>T) c.1577A>T | |
| 15 | g.75392413T>C | CA393490682 | SIN3A | c.2680A>G (p.Ile894Val) c.2002A>G (p.Ile668Val) c.*2634A>G (n.*2634A>G) c.2790A>G (n.2790A>G) c.1577A>G | ClinVar |
| 15 | g.75392413T>G | CA393490681 | SIN3A | c.2680A>C (p.Ile894Leu) c.2002A>C (p.Ile668Leu) c.*2634A>C (n.*2634A>C) c.2790A>C (n.2790A>C) c.1577A>C | |
| 15 | g.75392414A>C | CA393490683 | SIN3A | c.2679T>G (p.Tyr893Ter) c.2001T>G (p.Tyr667Ter) c.*2633T>G (n.*2633T>G) c.2789T>G (n.2789T>G) c.1576T>G | |
| 15 | g.75392414A>G | CA491497203 | SIN3A | c.2679T>C (p.Tyr893=) c.2001T>C (p.Tyr667=) c.*2633T>C (n.*2633T>C) c.2789T>C (n.2789T>C) c.1576T>C | |
| 15 | g.75392414A>T | CA393490684 | SIN3A | c.2679T>A (p.Tyr893Ter) c.2001T>A (p.Tyr667Ter) c.*2633T>A (n.*2633T>A) c.2789T>A (n.2789T>A) c.1576T>A | |
| 15 | g.75392415T>A | CA393490685 | SIN3A | c.2678A>T (p.Tyr893Phe) c.2000A>T (p.Tyr667Phe) c.*2632A>T (n.*2632A>T) c.2788A>T (n.2788A>T) c.1575A>T | gnomAD v4 |
| 15 | g.75392415T>C | CA393490686 | SIN3A | c.2678A>G (p.Tyr893Cys) c.2000A>G (p.Tyr667Cys) c.*2632A>G (n.*2632A>G) c.2788A>G (n.2788A>G) c.1575A>G | |
| 15 | g.75392415T>G | CA393490687 | SIN3A | c.2678A>C (p.Tyr893Ser) c.2000A>C (p.Tyr667Ser) c.*2632A>C (n.*2632A>C) c.2788A>C (n.2788A>C) c.1575A>C | |
| 15 | g.75392416A>C | CA393490688 | SIN3A | c.2677T>G (p.Tyr893Asp) c.1999T>G (p.Tyr667Asp) c.*2631T>G (n.*2631T>G) c.2787T>G (n.2787T>G) c.1574T>G | |
| 15 | g.75392416A>G | CA393490689 | SIN3A | c.2677T>C (p.Tyr893His) c.1999T>C (p.Tyr667His) c.*2631T>C (n.*2631T>C) c.2787T>C (n.2787T>C) c.1574T>C | |
| 15 | g.75392416A>T | CA393490690 | SIN3A | c.2677T>A (p.Tyr893Asn) c.1999T>A (p.Tyr667Asn) c.*2631T>A (n.*2631T>A) c.2787T>A (n.2787T>A) c.1574T>A | |
| 15 | g.75392417C>A | CA393490691 | SIN3A | c.2676G>T (p.Trp892Cys) c.1998G>T (p.Trp666Cys) c.*2630G>T (n.*2630G>T) c.2786G>T (n.2786G>T) c.1573G>T | |
| 15 | g.75392417C>G | CA393490692 | SIN3A | c.2676G>C (p.Trp892Cys) c.1998G>C (p.Trp666Cys) c.*2630G>C (n.*2630G>C) c.2786G>C (n.2786G>C) c.1573G>C | |
| 15 | g.75392417C>T | CA393490693 | SIN3A | c.2676G>A (p.Trp892Ter) c.1998G>A (p.Trp666Ter) c.*2630G>A (n.*2630G>A) c.2786G>A (n.2786G>A) c.1573G>A | |
| 15 | g.75392418C>A | CA393490696 | SIN3A | c.2675G>T (p.Trp892Leu) c.1997G>T (p.Trp666Leu) c.*2629G>T (n.*2629G>T) c.2785G>T (n.2785G>T) c.1572G>T | |
| 15 | g.75392418C= | CA2188126773 | SIN3A | c.2675G= (p.Trp892=) c.1997G= (p.Trp666=) c.*2629G= (n.*2629G=) c.2785G= (n.2785G=) c.1572G= | |
| 15 | g.75392418C>G | CA393490695 | SIN3A | c.2675G>C (p.Trp892Ser) c.1997G>C (p.Trp666Ser) c.*2629G>C (n.*2629G>C) c.2785G>C (n.2785G>C) c.1572G>C | |
| 15 | g.75392418C>T | CA393490694 | SIN3A | c.2675G>A (p.Trp892Ter) c.1997G>A (p.Trp666Ter) c.*2629G>A (n.*2629G>A) c.2785G>A (n.2785G>A) c.1572G>A | ClinVar dbSNP |
| 15 | g.75392419A>C | CA393490697 | SIN3A | c.2674T>G (p.Trp892Gly) c.1996T>G (p.Trp666Gly) c.*2628T>G (n.*2628T>G) c.2784T>G (n.2784T>G) c.1571T>G |