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.75392304A>C | CA393490436 | SIN3A | c.2789T>G (p.Val930Gly) c.2111T>G (p.Val704Gly) c.*2743T>G (n.*2743T>G) c.2899T>G (n.2899T>G) c.1686T>G | |
| 15 | g.75392304A>G | CA393490437 | SIN3A | c.2789T>C (p.Val930Ala) c.2111T>C (p.Val704Ala) c.*2743T>C (n.*2743T>C) c.2899T>C (n.2899T>C) c.1686T>C | |
| 15 | g.75392304A>T | CA393490438 | SIN3A | c.2789T>A (p.Val930Glu) c.2111T>A (p.Val704Glu) c.*2743T>A (n.*2743T>A) c.2899T>A (n.2899T>A) c.1686T>A | |
| 15 | g.75392305C>A | CA393490439 | SIN3A | c.2788G>T (p.Val930Leu) c.2110G>T (p.Val704Leu) c.*2742G>T (n.*2742G>T) c.2898G>T (n.2898G>T) c.1685G>T | |
| 15 | g.75392305C>G | CA393490440 | SIN3A | c.2788G>C (p.Val930Leu) c.2110G>C (p.Val704Leu) c.*2742G>C (n.*2742G>C) c.2898G>C (n.2898G>C) c.1685G>C | |
| 15 | g.75392305C>T | CA393490441 | SIN3A | c.2788G>A (p.Val930Met) c.2110G>A (p.Val704Met) c.*2742G>A (n.*2742G>A) c.2898G>A (n.2898G>A) c.1685G>A | |
| 15 | g.75392306T>A | CA393490442 | SIN3A | c.2787A>T (p.Glu929Asp) c.2109A>T (p.Glu703Asp) c.*2741A>T (n.*2741A>T) c.2897A>T (n.2897A>T) c.1684A>T | |
| 15 | g.75392306T>C | CA7667407 | SIN3A | c.2787A>G (p.Glu929=) c.2109A>G (p.Glu703=) c.*2741A>G (n.*2741A>G) c.2897A>G (n.2897A>G) c.1684A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.75392306T>G | CA393490443 | SIN3A | c.2787A>C (p.Glu929Asp) c.2109A>C (p.Glu703Asp) c.*2741A>C (n.*2741A>C) c.2897A>C (n.2897A>C) c.1684A>C | gnomAD v4 |
| 15 | g.75392306T= | CA2188126646 | SIN3A | c.2787A= (p.Glu929=) c.2109A= (p.Glu703=) c.*2741A= (n.*2741A=) c.2897A= (n.2897A=) c.1684A= | |
| 15 | g.75392307T>A | CA393490444 | SIN3A | c.2786A>T (p.Glu929Val) c.2108A>T (p.Glu703Val) c.*2740A>T (n.*2740A>T) c.2896A>T (n.2896A>T) c.1683A>T | |
| 15 | g.75392307T>C | CA393490446 | SIN3A | c.2786A>G (p.Glu929Gly) c.2108A>G (p.Glu703Gly) c.*2740A>G (n.*2740A>G) c.2896A>G (n.2896A>G) c.1683A>G | |
| 15 | g.75392307T>G | CA393490445 | SIN3A | c.2786A>C (p.Glu929Ala) c.2108A>C (p.Glu703Ala) c.*2740A>C (n.*2740A>C) c.2896A>C (n.2896A>C) c.1683A>C | |
| 15 | g.75392308C>A | CA393490447 | SIN3A | c.2785G>T (p.Glu929Ter) c.2107G>T (p.Glu703Ter) c.*2739G>T (n.*2739G>T) c.2895G>T (n.2895G>T) c.1682G>T | |
| 15 | g.75392308C>G | CA393490448 | SIN3A | c.2785G>C (p.Glu929Gln) c.2107G>C (p.Glu703Gln) c.*2739G>C (n.*2739G>C) c.2895G>C (n.2895G>C) c.1682G>C | |
| 15 | g.75392308C>T | CA393490449 | SIN3A | c.2785G>A (p.Glu929Lys) c.2107G>A (p.Glu703Lys) c.*2739G>A (n.*2739G>A) c.2895G>A (n.2895G>A) c.1682G>A | |
| 15 | g.75392309C>A | CA491497047 | SIN3A | c.2784G>T (p.Arg928=) c.2106G>T (p.Arg702=) c.*2738G>T (n.*2738G>T) c.2894G>T (n.2894G>T) c.1681G>T | dbSNP gnomAD v4 |
| 15 | g.75392309C= | CA2188126650 | SIN3A | c.2784G= (p.Arg928=) c.2106G= (p.Arg702=) c.*2738G= (n.*2738G=) c.2894G= (n.2894G=) c.1681G= | |
| 15 | g.75392309C>G | CA491497046 | SIN3A | c.2784G>C (p.Arg928=) c.2106G>C (p.Arg702=) c.*2738G>C (n.*2738G>C) c.2894G>C (n.2894G>C) c.1681G>C | |
| 15 | g.75392309C>T | CA491497045 | SIN3A | c.2784G>A (p.Arg928=) c.2106G>A (p.Arg702=) c.*2738G>A (n.*2738G>A) c.2894G>A (n.2894G>A) c.1681G>A | |
| 15 | g.75392310C>A | CA393490450 | SIN3A | c.2783G>T (p.Arg928Leu) c.2105G>T (p.Arg702Leu) c.*2737G>T (n.*2737G>T) c.2893G>T (n.2893G>T) c.1680G>T | |
| 15 | g.75392310C= | CA2188126654 | SIN3A | c.2783G= (p.Arg928=) c.2105G= (p.Arg702=) c.*2737G= (n.*2737G=) c.2893G= (n.2893G=) c.1680G= | |
| 15 | g.75392310C>G | CA393490451 | SIN3A | c.2783G>C (p.Arg928Pro) c.2105G>C (p.Arg702Pro) c.*2737G>C (n.*2737G>C) c.2893G>C (n.2893G>C) c.1680G>C | |
| 15 | g.75392310C>T | CA7667408 | SIN3A | c.2783G>A (p.Arg928Gln) c.2105G>A (p.Arg702Gln) c.*2737G>A (n.*2737G>A) c.2893G>A (n.2893G>A) c.1680G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.75392311G>A | CA393490452 | SIN3A | c.2782C>T (p.Arg928Trp) c.2104C>T (p.Arg702Trp) c.*2736C>T (n.*2736C>T) c.2892C>T (n.2892C>T) c.1679C>T | ClinVar gnomAD v4 |
| 15 | g.75392311G>C | CA393490453 | SIN3A | c.2782C>G (p.Arg928Gly) c.2104C>G (p.Arg702Gly) c.*2736C>G (n.*2736C>G) c.2892C>G (n.2892C>G) c.1679C>G | |
| 15 | g.75392311G= | CA2188126658 | SIN3A | c.2782C= (p.Arg928=) c.2104C= (p.Arg702=) c.*2736C= (n.*2736C=) c.2892C= (n.2892C=) c.1679C= | |
| 15 | g.75392311G>T | CA491497049 | SIN3A | c.2782C>A (p.Arg928=) c.2104C>A (p.Arg702=) c.*2736C>A (n.*2736C>A) c.2892C>A (n.2892C>A) c.1679C>A | dbSNP |
| 15 | g.75392312T>A | CA393490454 | SIN3A | c.2781A>T (p.Glu927Asp) c.2103A>T (p.Glu701Asp) c.*2735A>T (n.*2735A>T) c.2891A>T (n.2891A>T) c.1678A>T | gnomAD v4 |
| 15 | g.75392312T>C | CA491497050 | SIN3A | c.2781A>G (p.Glu927=) c.2103A>G (p.Glu701=) c.*2735A>G (n.*2735A>G) c.2891A>G (n.2891A>G) c.1678A>G | |
| 15 | g.75392312T>G | CA393490455 | SIN3A | c.2781A>C (p.Glu927Asp) c.2103A>C (p.Glu701Asp) c.*2735A>C (n.*2735A>C) c.2891A>C (n.2891A>C) c.1678A>C | |
| 15 | g.75392313T>A | CA393490457 | SIN3A | c.2780A>T (p.Glu927Val) c.2102A>T (p.Glu701Val) c.*2734A>T (n.*2734A>T) c.2890A>T (n.2890A>T) c.1677A>T | |
| 15 | g.75392313T>C | CA393490458 | SIN3A | c.2780A>G (p.Glu927Gly) c.2102A>G (p.Glu701Gly) c.*2734A>G (n.*2734A>G) c.2890A>G (n.2890A>G) c.1677A>G | |
| 15 | g.75392313T>G | CA393490456 | SIN3A | c.2780A>C (p.Glu927Ala) c.2102A>C (p.Glu701Ala) c.*2734A>C (n.*2734A>C) c.2890A>C (n.2890A>C) c.1677A>C | |
| 15 | g.75392314C>A | CA393490459 | SIN3A | c.2779G>T (p.Glu927Ter) c.2101G>T (p.Glu701Ter) c.*2733G>T (n.*2733G>T) c.2889G>T (n.2889G>T) c.1676G>T | COSMIC |
| 15 | g.75392314C>G | CA393490460 | SIN3A | c.2779G>C (p.Glu927Gln) c.2101G>C (p.Glu701Gln) c.*2733G>C (n.*2733G>C) c.2889G>C (n.2889G>C) c.1676G>C | |
| 15 | g.75392314C>T | CA393490461 | SIN3A | c.2779G>A (p.Glu927Lys) c.2101G>A (p.Glu701Lys) c.*2733G>A (n.*2733G>A) c.2889G>A (n.2889G>A) c.1676G>A | gnomAD v4 |
| 15 | g.75392315C>A | CA393490462 | SIN3A | c.2778G>T (p.Trp926Cys) c.2100G>T (p.Trp700Cys) c.*2732G>T (n.*2732G>T) c.2888G>T (n.2888G>T) c.1675G>T | |
| 15 | g.75392315C>G | CA393490463 | SIN3A | c.2778G>C (p.Trp926Cys) c.2100G>C (p.Trp700Cys) c.*2732G>C (n.*2732G>C) c.2888G>C (n.2888G>C) c.1675G>C | |
| 15 | g.75392315C>T | CA393490464 | SIN3A | c.2778G>A (p.Trp926Ter) c.2100G>A (p.Trp700Ter) c.*2732G>A (n.*2732G>A) c.2888G>A (n.2888G>A) c.1675G>A | |
| 15 | g.75392316C>A | CA393490467 | SIN3A | c.2777G>T (p.Trp926Leu) c.2099G>T (p.Trp700Leu) c.*2731G>T (n.*2731G>T) c.2887G>T (n.2887G>T) c.1674G>T | |
| 15 | g.75392316C>G | CA393490465 | SIN3A | c.2777G>C (p.Trp926Ser) c.2099G>C (p.Trp700Ser) c.*2731G>C (n.*2731G>C) c.2887G>C (n.2887G>C) c.1674G>C | |
| 15 | g.75392316C>T | CA393490466 | SIN3A | c.2777G>A (p.Trp926Ter) c.2099G>A (p.Trp700Ter) c.*2731G>A (n.*2731G>A) c.2887G>A (n.2887G>A) c.1674G>A | |
| 15 | g.75392317A>C | CA393490468 | SIN3A | c.2776T>G (p.Trp926Gly) c.2098T>G (p.Trp700Gly) c.*2730T>G (n.*2730T>G) c.2886T>G (n.2886T>G) c.1673T>G | |
| 15 | g.75392317A>G | CA393490469 | SIN3A | c.2776T>C (p.Trp926Arg) c.2098T>C (p.Trp700Arg) c.*2730T>C (n.*2730T>C) c.2886T>C (n.2886T>C) c.1673T>C | gnomAD v4 |
| 15 | g.75392317A>T | CA393490470 | SIN3A | c.2776T>A (p.Trp926Arg) c.2098T>A (p.Trp700Arg) c.*2730T>A (n.*2730T>A) c.2886T>A (n.2886T>A) c.1673T>A | |
| 15 | g.75392318T>A | CA393490471 | SIN3A | c.2775A>T (p.Glu925Asp) c.2097A>T (p.Glu699Asp) c.*2729A>T (n.*2729A>T) c.2885A>T (n.2885A>T) c.1672A>T | |
| 15 | g.75392318T>C | CA491497055 | SIN3A | c.2775A>G (p.Glu925=) c.2097A>G (p.Glu699=) c.*2729A>G (n.*2729A>G) c.2885A>G (n.2885A>G) c.1672A>G | |
| 15 | g.75392318T>G | CA393490472 | SIN3A | c.2775A>C (p.Glu925Asp) c.2097A>C (p.Glu699Asp) c.*2729A>C (n.*2729A>C) c.2885A>C (n.2885A>C) c.1672A>C | |
| 15 | g.75392319del | CA645586437 | SIN3A | c.2775del (p.Glu925AspfsTer9) c.2097del (p.Glu699AspfsTer9) c.*2729del (n.*2729del) c.2885del (n.2885del) c.1672del | COSMIC |