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.42729065_42729073del | CA490001958 | CDAN1 | c.2598_2606del (p.Glu867_Val869del) c.*1776_*1784del (n.*1776_*1784del) c.591_599del (p.Glu198_Val200del) c.2601_2609del (p.Glu868_Val870del) c.2625_2633del (p.Glu876_Val878del) c.2622_2630del (p.Glu875_Val877del) c.1590_1598del (p.Glu531_Val533del) c.1842_1850del (p.Glu615_Val617del) n.2655_2663del | |
| 15 | g.42729066A= | CA2172869183 | CDAN1 | c.2602T= (p.Phe868=) c.*1780T= (n.*1780T=) c.595T= (p.Phe199=) c.2605T= (p.Phe869=) c.2629T= (p.Phe877=) c.2626T= (p.Phe876=) c.1594T= (p.Phe532=) c.1846T= (p.Phe616=) n.2659T= | |
| 15 | g.42729066A>C | CA392037020 | CDAN1 | c.2602T>G (p.Phe868Val) c.*1780T>G (n.*1780T>G) c.595T>G (p.Phe199Val) c.2605T>G (p.Phe869Val) c.2629T>G (p.Phe877Val) c.2626T>G (p.Phe876Val) c.1594T>G (p.Phe532Val) c.1846T>G (p.Phe616Val) n.2659T>G | |
| 15 | g.42729066A>G | CA392037021 | CDAN1 | c.2602T>C (p.Phe868Leu) c.*1780T>C (n.*1780T>C) c.595T>C (p.Phe199Leu) c.2605T>C (p.Phe869Leu) c.2629T>C (p.Phe877Leu) c.2626T>C (p.Phe876Leu) c.1594T>C (p.Phe532Leu) c.1846T>C (p.Phe616Leu) n.2659T>C | |
| 15 | g.42729066A>T | CA252609 | CDAN1 | c.2602T>A (p.Phe868Ile) c.*1780T>A (n.*1780T>A) c.595T>A (p.Phe199Ile) c.2605T>A (p.Phe869Ile) c.2629T>A (p.Phe877Ile) c.2626T>A (p.Phe876Ile) c.1594T>A (p.Phe532Ile) c.1846T>A (p.Phe616Ile) n.2659T>A | ClinVar dbSNP |
| 15 | g.42729067C>A | CA392037027 | CDAN1 | c.2601G>T (p.Glu867Asp) c.*1779G>T (n.*1779G>T) c.594G>T (p.Glu198Asp) c.2604G>T (p.Glu868Asp) c.2628G>T (p.Glu876Asp) c.2625G>T (p.Glu875Asp) c.1593G>T (p.Glu531Asp) c.1845G>T (p.Glu615Asp) n.2658G>T | |
| 15 | g.42729067C= | CA2172869184 | CDAN1 | c.2601G= (p.Glu867=) c.*1779G= (n.*1779G=) c.594G= (p.Glu198=) c.2604G= (p.Glu868=) c.2628G= (p.Glu876=) c.2625G= (p.Glu875=) c.1593G= (p.Glu531=) c.1845G= (p.Glu615=) n.2658G= | |
| 15 | g.42729067C>G | CA392037029 | CDAN1 | c.2601G>C (p.Glu867Asp) c.*1779G>C (n.*1779G>C) c.594G>C (p.Glu198Asp) c.2604G>C (p.Glu868Asp) c.2628G>C (p.Glu876Asp) c.2625G>C (p.Glu875Asp) c.1593G>C (p.Glu531Asp) c.1845G>C (p.Glu615Asp) n.2658G>C | |
| 15 | g.42729067C>T | CA490001959 | CDAN1 | c.2601G>A (p.Glu867=) c.*1779G>A (n.*1779G>A) c.594G>A (p.Glu198=) c.2604G>A (p.Glu868=) c.2628G>A (p.Glu876=) c.2625G>A (p.Glu875=) c.1593G>A (p.Glu531=) c.1845G>A (p.Glu615=) n.2658G>A | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.42729068T>A | CA392037031 | CDAN1 | c.2600A>T (p.Glu867Val) c.*1778A>T (n.*1778A>T) c.593A>T (p.Glu198Val) c.2603A>T (p.Glu868Val) c.2627A>T (p.Glu876Val) c.2624A>T (p.Glu875Val) c.1592A>T (p.Glu531Val) c.1844A>T (p.Glu615Val) n.2657A>T | |
| 15 | g.42729068T>C | CA7515555 | CDAN1 | c.2600A>G (p.Glu867Gly) c.*1778A>G (n.*1778A>G) c.593A>G (p.Glu198Gly) c.2603A>G (p.Glu868Gly) c.2627A>G (p.Glu876Gly) c.2624A>G (p.Glu875Gly) c.1592A>G (p.Glu531Gly) c.1844A>G (p.Glu615Gly) n.2657A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42729068T>G | CA392037039 | CDAN1 | c.2600A>C (p.Glu867Ala) c.*1778A>C (n.*1778A>C) c.593A>C (p.Glu198Ala) c.2603A>C (p.Glu868Ala) c.2627A>C (p.Glu876Ala) c.2624A>C (p.Glu875Ala) c.1592A>C (p.Glu531Ala) c.1844A>C (p.Glu615Ala) n.2657A>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42729068T= | CA2172869185 | CDAN1 | c.2600A= (p.Glu867=) c.*1778A= (n.*1778A=) c.593A= (p.Glu198=) c.2603A= (p.Glu868=) c.2627A= (p.Glu876=) c.2624A= (p.Glu875=) c.1592A= (p.Glu531=) c.1844A= (p.Glu615=) n.2657A= | |
| 15 | g.42729069C>A | CA392037045 | CDAN1 | c.2599G>T (p.Glu867Ter) c.*1777G>T (n.*1777G>T) c.592G>T (p.Glu198Ter) c.2602G>T (p.Glu868Ter) c.2626G>T (p.Glu876Ter) c.2623G>T (p.Glu875Ter) c.1591G>T (p.Glu531Ter) c.1843G>T (p.Glu615Ter) n.2656G>T | |
| 15 | g.42729069C>G | CA392037046 | CDAN1 | c.2599G>C (p.Glu867Gln) c.*1777G>C (n.*1777G>C) c.592G>C (p.Glu198Gln) c.2602G>C (p.Glu868Gln) c.2626G>C (p.Glu876Gln) c.2623G>C (p.Glu875Gln) c.1591G>C (p.Glu531Gln) c.1843G>C (p.Glu615Gln) n.2656G>C | |
| 15 | g.42729069C>T | CA392037048 | CDAN1 | c.2599G>A (p.Glu867Lys) c.*1777G>A (n.*1777G>A) c.592G>A (p.Glu198Lys) c.2602G>A (p.Glu868Lys) c.2626G>A (p.Glu876Lys) c.2623G>A (p.Glu875Lys) c.1591G>A (p.Glu531Lys) c.1843G>A (p.Glu615Lys) n.2656G>A | gnomAD v4 |
| 15 | g.42729069_42729071delinsCTA | CA2172869186 | CDAN1 | c.2597_2599delinsTAG (p.Val866=) c.*1775_*1777delinsTAG (n.*1775_*1777delinsTAG) c.590_592delinsTAG (p.Val197=) c.2600_2602delinsTAG (p.Val867=) c.2624_2626delinsTAG (p.Val875=) c.2621_2623delinsTAG (p.Val874=) c.1589_1591delinsTAG (p.Val530=) c.1841_1843delinsTAG (p.Val614=) n.2654_2656delinsTAG | |
| 15 | g.42729070T>A | CA490001961 | CDAN1 | c.2598A>T (p.Val866=) c.*1776A>T (n.*1776A>T) c.591A>T (p.Val197=) c.2601A>T (p.Val867=) c.2625A>T (p.Val875=) c.2622A>T (p.Val874=) c.1590A>T (p.Val530=) c.1842A>T (p.Val614=) n.2655A>T | |
| 15 | g.42729070T>C | CA269902975 | CDAN1 | c.2598A>G (p.Val866=) c.*1776A>G (n.*1776A>G) c.591A>G (p.Val197=) c.2601A>G (p.Val867=) c.2625A>G (p.Val875=) c.2622A>G (p.Val874=) c.1590A>G (p.Val530=) c.1842A>G (p.Val614=) n.2655A>G | ClinVar dbSNP gnomAD v4 |
| 15 | g.42729070T>G | CA490001960 | CDAN1 | c.2598A>C (p.Val866=) c.*1776A>C (n.*1776A>C) c.591A>C (p.Val197=) c.2601A>C (p.Val867=) c.2625A>C (p.Val875=) c.2622A>C (p.Val874=) c.1590A>C (p.Val530=) c.1842A>C (p.Val614=) n.2655A>C | gnomAD v4 |
| 15 | g.42729070T= | CA2172869187 | CDAN1 | c.2598A= (p.Val866=) c.*1776A= (n.*1776A=) c.591A= (p.Val197=) c.2601A= (p.Val867=) c.2625A= (p.Val875=) c.2622A= (p.Val874=) c.1590A= (p.Val530=) c.1842A= (p.Val614=) n.2655A= | |
| 15 | g.42729070_42729071del | CA7515556 | CDAN1 | c.2597_2598del (p.Val866GlyfsTer?) c.*1775_*1776del (n.*1775_*1776del) c.590_591del (p.Val197GlyfsTer?) c.2600_2601del (p.Val867GlyfsTer?) c.2624_2625del (p.Val875GlyfsTer?) c.2621_2622del (p.Val874GlyfsTer?) c.1589_1590del (p.Val530GlyfsTer?) c.1841_1842del (p.Val614GlyfsTer?) n.2654_2655del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42729071A= | CA2172869188 | CDAN1 | c.2597T= (p.Val866=) c.*1775T= (n.*1775T=) c.590T= (p.Val197=) c.2600T= (p.Val867=) c.2624T= (p.Val875=) c.2621T= (p.Val874=) c.1589T= (p.Val530=) c.1841T= (p.Val614=) n.2654T= | |
| 15 | g.42729071A>C | CA392037053 | CDAN1 | c.2597T>G (p.Val866Gly) c.*1775T>G (n.*1775T>G) c.590T>G (p.Val197Gly) c.2600T>G (p.Val867Gly) c.2624T>G (p.Val875Gly) c.2621T>G (p.Val874Gly) c.1589T>G (p.Val530Gly) c.1841T>G (p.Val614Gly) n.2654T>G | |
| 15 | g.42729071A>G | CA392037056 | CDAN1 | c.2597T>C (p.Val866Ala) c.*1775T>C (n.*1775T>C) c.590T>C (p.Val197Ala) c.2600T>C (p.Val867Ala) c.2624T>C (p.Val875Ala) c.2621T>C (p.Val874Ala) c.1589T>C (p.Val530Ala) c.1841T>C (p.Val614Ala) n.2654T>C | gnomAD v4 |
| 15 | g.42729071A>T | CA392037058 | CDAN1 | c.2597T>A (p.Val866Glu) c.*1775T>A (n.*1775T>A) c.590T>A (p.Val197Glu) c.2600T>A (p.Val867Glu) c.2624T>A (p.Val875Glu) c.2621T>A (p.Val874Glu) c.1589T>A (p.Val530Glu) c.1841T>A (p.Val614Glu) n.2654T>A | |
| 15 | g.42729072C>A | CA392037060 | CDAN1 | c.2596G>T (p.Val866Leu) c.*1774G>T (n.*1774G>T) c.589G>T (p.Val197Leu) c.2599G>T (p.Val867Leu) c.2623G>T (p.Val875Leu) c.2620G>T (p.Val874Leu) c.1588G>T (p.Val530Leu) c.1840G>T (p.Val614Leu) n.2653G>T | gnomAD v4 |
| 15 | g.42729072C= | CA2172869189 | CDAN1 | c.2596G= (p.Val866=) c.*1774G= (n.*1774G=) c.589G= (p.Val197=) c.2599G= (p.Val867=) c.2623G= (p.Val875=) c.2620G= (p.Val874=) c.1588G= (p.Val530=) c.1840G= (p.Val614=) n.2653G= | |
| 15 | g.42729072C>G | CA392037072 | CDAN1 | c.2596G>C (p.Val866Leu) c.*1774G>C (n.*1774G>C) c.589G>C (p.Val197Leu) c.2599G>C (p.Val867Leu) c.2623G>C (p.Val875Leu) c.2620G>C (p.Val874Leu) c.1588G>C (p.Val530Leu) c.1840G>C (p.Val614Leu) n.2653G>C | dbSNP gnomAD v4 |
| 15 | g.42729072C>T | CA7515557 | CDAN1 | c.2596G>A (p.Val866Ile) c.*1774G>A (n.*1774G>A) c.589G>A (p.Val197Ile) c.2599G>A (p.Val867Ile) c.2623G>A (p.Val875Ile) c.2620G>A (p.Val874Ile) c.1588G>A (p.Val530Ile) c.1840G>A (p.Val614Ile) n.2653G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42729075_42729079dup | CA618002288 | CDAN1 | c.2592_2596dup (p.Val866GlyfsTer3) c.*1770_*1774dup (n.*1770_*1774dup) c.585_589dup (p.Val197GlyfsTer3) c.2595_2599dup (p.Val867GlyfsTer3) c.2619_2623dup (p.Val875GlyfsTer3) c.2616_2620dup (p.Val874GlyfsTer3) c.1584_1588dup (p.Val530GlyfsTer3) c.1836_1840dup (p.Val614GlyfsTer3) n.2649_2653dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42729073G>A | CA7515559 | CDAN1 | c.2595C>T (p.Thr865=) c.*1773C>T (n.*1773C>T) c.588C>T (p.Thr196=) c.2598C>T (p.Thr866=) c.2622C>T (p.Thr874=) c.2619C>T (p.Thr873=) c.1587C>T (p.Thr529=) c.1839C>T (p.Thr613=) n.2652C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.42729073G>C | CA7515558 | CDAN1 | c.2595C>G (p.Thr865=) c.*1773C>G (n.*1773C>G) c.588C>G (p.Thr196=) c.2598C>G (p.Thr866=) c.2622C>G (p.Thr874=) c.2619C>G (p.Thr873=) c.1587C>G (p.Thr529=) c.1839C>G (p.Thr613=) n.2652C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42729073G= | CA2172869190 | CDAN1 | c.2595C= (p.Thr865=) c.*1773C= (n.*1773C=) c.588C= (p.Thr196=) c.2598C= (p.Thr866=) c.2622C= (p.Thr874=) c.2619C= (p.Thr873=) c.1587C= (p.Thr529=) c.1839C= (p.Thr613=) n.2652C= | |
| 15 | g.42729073G>T | CA490001962 | CDAN1 | c.2595C>A (p.Thr865=) c.*1773C>A (n.*1773C>A) c.588C>A (p.Thr196=) c.2598C>A (p.Thr866=) c.2622C>A (p.Thr874=) c.2619C>A (p.Thr873=) c.1587C>A (p.Thr529=) c.1839C>A (p.Thr613=) n.2652C>A | gnomAD v4 |
| 15 | g.42729075_42729086dup | CA2628070864 | CDAN1 | c.2584_2595dup (p.Thr865_Val866insLeuArgArgThr) c.*1762_*1773dup (n.*1762_*1773dup) c.577_588dup (p.Thr196_Val197insLeuArgArgThr) c.2587_2598dup (p.Thr866_Val867insLeuArgArgThr) c.2611_2622dup (p.Thr874_Val875insLeuArgArgThr) c.2608_2619dup (p.Thr873_Val874insLeuArgArgThr) c.1576_1587dup (p.Thr529_Val530insLeuArgArgThr) c.1828_1839dup (p.Thr613_Val614insLeuArgArgThr) n.2641_2652dup | gnomAD v4 |
| 15 | g.42729074G>A | CA392037080 | CDAN1 | c.2594C>T (p.Thr865Ile) c.*1772C>T (n.*1772C>T) c.587C>T (p.Thr196Ile) c.2597C>T (p.Thr866Ile) c.2621C>T (p.Thr874Ile) c.2618C>T (p.Thr873Ile) c.1586C>T (p.Thr529Ile) c.1838C>T (p.Thr613Ile) n.2651C>T | gnomAD v4 |
| 15 | g.42729074G>C | CA392037082 | CDAN1 | c.2594C>G (p.Thr865Ser) c.*1772C>G (n.*1772C>G) c.587C>G (p.Thr196Ser) c.2597C>G (p.Thr866Ser) c.2621C>G (p.Thr874Ser) c.2618C>G (p.Thr873Ser) c.1586C>G (p.Thr529Ser) c.1838C>G (p.Thr613Ser) n.2651C>G | |
| 15 | g.42729074G>T | CA392037083 | CDAN1 | c.2594C>A (p.Thr865Asn) c.*1772C>A (n.*1772C>A) c.587C>A (p.Thr196Asn) c.2597C>A (p.Thr866Asn) c.2621C>A (p.Thr874Asn) c.2618C>A (p.Thr873Asn) c.1586C>A (p.Thr529Asn) c.1838C>A (p.Thr613Asn) n.2651C>A | |
| 15 | g.42729075_42729078dup | CA2172869191 | CDAN1 | c.2591_2594dup (p.Val866AspfsTer?) c.*1769_*1772dup (n.*1769_*1772dup) c.584_587dup (p.Val197AspfsTer?) c.2594_2597dup (p.Val867AspfsTer?) c.2618_2621dup (p.Val875AspfsTer?) c.2615_2618dup (p.Val874AspfsTer?) c.1583_1586dup (p.Val530AspfsTer?) c.1835_1838dup (p.Val614AspfsTer?) n.2648_2651dup | dbSNP |
| 15 | g.42729075T>A | CA392037085 | CDAN1 | c.2593A>T (p.Thr865Ser) c.*1771A>T (n.*1771A>T) c.586A>T (p.Thr196Ser) c.2596A>T (p.Thr866Ser) c.2620A>T (p.Thr874Ser) c.2617A>T (p.Thr873Ser) c.1585A>T (p.Thr529Ser) c.1837A>T (p.Thr613Ser) n.2650A>T | |
| 15 | g.42729075T>C | CA7515560 | CDAN1 | c.2593A>G (p.Thr865Ala) c.*1771A>G (n.*1771A>G) c.586A>G (p.Thr196Ala) c.2596A>G (p.Thr866Ala) c.2620A>G (p.Thr874Ala) c.2617A>G (p.Thr873Ala) c.1585A>G (p.Thr529Ala) c.1837A>G (p.Thr613Ala) n.2650A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42729075T>G | CA392037088 | CDAN1 | c.2593A>C (p.Thr865Pro) c.*1771A>C (n.*1771A>C) c.586A>C (p.Thr196Pro) c.2596A>C (p.Thr866Pro) c.2620A>C (p.Thr874Pro) c.2617A>C (p.Thr873Pro) c.1585A>C (p.Thr529Pro) c.1837A>C (p.Thr613Pro) n.2650A>C | |
| 15 | g.42729075T= | CA2172869192 | CDAN1 | c.2593A= (p.Thr865=) c.*1771A= (n.*1771A=) c.586A= (p.Thr196=) c.2596A= (p.Thr866=) c.2620A= (p.Thr874=) c.2617A= (p.Thr873=) c.1585A= (p.Thr529=) c.1837A= (p.Thr613=) n.2650A= | |
| 15 | g.42729076C>A | CA490001963 | CDAN1 | c.2592G>T (p.Arg864=) c.*1770G>T (n.*1770G>T) c.585G>T (p.Arg195=) c.2595G>T (p.Arg865=) c.2619G>T (p.Arg873=) c.2616G>T (p.Arg872=) c.1584G>T (p.Arg528=) c.1836G>T (p.Arg612=) n.2649G>T | gnomAD v4 |
| 15 | g.42729076C>G | CA490001964 | CDAN1 | c.2592G>C (p.Arg864=) c.*1770G>C (n.*1770G>C) c.585G>C (p.Arg195=) c.2595G>C (p.Arg865=) c.2619G>C (p.Arg873=) c.2616G>C (p.Arg872=) c.1584G>C (p.Arg528=) c.1836G>C (p.Arg612=) n.2649G>C | |
| 15 | g.42729076C>T | CA490001965 | CDAN1 | c.2592G>A (p.Arg864=) c.*1770G>A (n.*1770G>A) c.585G>A (p.Arg195=) c.2595G>A (p.Arg865=) c.2619G>A (p.Arg873=) c.2616G>A (p.Arg872=) c.1584G>A (p.Arg528=) c.1836G>A (p.Arg612=) n.2649G>A | |
| 15 | g.42729077C>A | CA392037092 | CDAN1 | c.2591G>T (p.Arg864Leu) c.*1769G>T (n.*1769G>T) c.584G>T (p.Arg195Leu) c.2594G>T (p.Arg865Leu) c.2618G>T (p.Arg873Leu) c.2615G>T (p.Arg872Leu) c.1583G>T (p.Arg528Leu) c.1835G>T (p.Arg612Leu) n.2648G>T | COSMIC |
| 15 | g.42729077C= | CA2172869193 | CDAN1 | c.2591G= (p.Arg864=) c.*1769G= (n.*1769G=) c.584G= (p.Arg195=) c.2594G= (p.Arg865=) c.2618G= (p.Arg873=) c.2615G= (p.Arg872=) c.1583G= (p.Arg528=) c.1835G= (p.Arg612=) n.2648G= | |
| 15 | g.42729077C>G | CA392037096 | CDAN1 | c.2591G>C (p.Arg864Pro) c.*1769G>C (n.*1769G>C) c.584G>C (p.Arg195Pro) c.2594G>C (p.Arg865Pro) c.2618G>C (p.Arg873Pro) c.2615G>C (p.Arg872Pro) c.1583G>C (p.Arg528Pro) c.1835G>C (p.Arg612Pro) n.2648G>C |