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.63488713C>A | CA501186969 | ACE | c.2371C>A (p.Arg791=) c.649C>A (p.Arg217=) c.*441C>A (n.*441C>A) c.630C>A (n.630C>A) c.*100C>A (n.*100C>A) c.*291C>A (n.*291C>A) c.139C>A (p.Arg47=) n.317C>A c.1822C>A (p.Arg608=) c.709C>A (p.Arg237=) c.1804C>A (p.Arg602=) c.1519C>A (p.Arg507=) c.301C>A (p.Arg101=) n.749C>A | |
| 17 | g.63488713C= | CA2269945957 | ACE | c.2371C= (p.Arg791=) c.649C= (p.Arg217=) c.*441C= (n.*441C=) c.630C= (n.630C=) c.*100C= (n.*100C=) c.*291C= (n.*291C=) c.139C= (p.Arg47=) n.317C= c.1822C= (p.Arg608=) c.709C= (p.Arg237=) c.1804C= (p.Arg602=) c.1519C= (p.Arg507=) c.301C= (p.Arg101=) n.749C= | |
| 17 | g.63488713C>G | CA400557925 | ACE | c.2371C>G (p.Arg791Gly) c.649C>G (p.Arg217Gly) c.*441C>G (n.*441C>G) c.630C>G (n.630C>G) c.*100C>G (n.*100C>G) c.*291C>G (n.*291C>G) c.139C>G (p.Arg47Gly) n.317C>G c.1822C>G (p.Arg608Gly) c.709C>G (p.Arg237Gly) c.1804C>G (p.Arg602Gly) c.1519C>G (p.Arg507Gly) c.301C>G (p.Arg101Gly) n.749C>G | |
| 17 | g.63488713C>T | CA143701 | ACE | c.2371C>T (p.Arg791Ter) c.649C>T (p.Arg217Ter) c.*441C>T (n.*441C>T) c.630C>T (n.630C>T) c.*100C>T (n.*100C>T) c.*291C>T (n.*291C>T) c.139C>T (p.Arg47Ter) n.317C>T c.1822C>T (p.Arg608Ter) c.709C>T (p.Arg237Ter) c.1804C>T (p.Arg602Ter) c.1519C>T (p.Arg507Ter) c.301C>T (p.Arg101Ter) n.749C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 17 | g.63488714G>A | CA8700075 | ACE | c.2372G>A (p.Arg791Gln) c.650G>A (p.Arg217Gln) c.*442G>A (n.*442G>A) c.631G>A (n.631G>A) c.*101G>A (n.*101G>A) c.*292G>A (n.*292G>A) c.140G>A (p.Arg47Gln) n.318G>A c.1823G>A (p.Arg608Gln) c.710G>A (p.Arg237Gln) c.1805G>A (p.Arg602Gln) c.1520G>A (p.Arg507Gln) c.302G>A (p.Arg101Gln) n.750G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 17 | g.63488714G>C | CA400557926 | ACE | c.2372G>C (p.Arg791Pro) c.650G>C (p.Arg217Pro) c.*442G>C (n.*442G>C) c.631G>C (n.631G>C) c.*101G>C (n.*101G>C) c.*292G>C (n.*292G>C) c.140G>C (p.Arg47Pro) n.318G>C c.1823G>C (p.Arg608Pro) c.710G>C (p.Arg237Pro) c.1805G>C (p.Arg602Pro) c.1520G>C (p.Arg507Pro) c.302G>C (p.Arg101Pro) n.750G>C | |
| 17 | g.63488714G= | CA2269945958 | ACE | c.2372G= (p.Arg791=) c.650G= (p.Arg217=) c.*442G= (n.*442G=) c.631G= (n.631G=) c.*101G= (n.*101G=) c.*292G= (n.*292G=) c.140G= (p.Arg47=) n.318G= c.1823G= (p.Arg608=) c.710G= (p.Arg237=) c.1805G= (p.Arg602=) c.1520G= (p.Arg507=) c.302G= (p.Arg101=) n.750G= | |
| 17 | g.63488714G>T | CA400557927 | ACE | c.2372G>T (p.Arg791Leu) c.650G>T (p.Arg217Leu) c.*442G>T (n.*442G>T) c.631G>T (n.631G>T) c.*101G>T (n.*101G>T) c.*292G>T (n.*292G>T) c.140G>T (p.Arg47Leu) n.318G>T c.1823G>T (p.Arg608Leu) c.710G>T (p.Arg237Leu) c.1805G>T (p.Arg602Leu) c.1520G>T (p.Arg507Leu) c.302G>T (p.Arg101Leu) n.750G>T | |
| 17 | g.63488715A>C | CA501186980 | ACE | c.2373A>C (p.Arg791=) c.651A>C (p.Arg217=) c.*443A>C (n.*443A>C) c.632A>C (n.632A>C) c.*102A>C (n.*102A>C) c.*293A>C (n.*293A>C) c.141A>C (p.Arg47=) n.319A>C c.1824A>C (p.Arg608=) c.711A>C (p.Arg237=) c.1806A>C (p.Arg602=) c.1521A>C (p.Arg507=) c.303A>C (p.Arg101=) n.751A>C | |
| 17 | g.63488715A>G | CA501186984 | ACE | c.2373A>G (p.Arg791=) c.651A>G (p.Arg217=) c.*443A>G (n.*443A>G) c.632A>G (n.632A>G) c.*102A>G (n.*102A>G) c.*293A>G (n.*293A>G) c.141A>G (p.Arg47=) n.319A>G c.1824A>G (p.Arg608=) c.711A>G (p.Arg237=) c.1806A>G (p.Arg602=) c.1521A>G (p.Arg507=) c.303A>G (p.Arg101=) n.751A>G | |
| 17 | g.63488715A>T | CA501186987 | ACE | c.2373A>T (p.Arg791=) c.651A>T (p.Arg217=) c.*443A>T (n.*443A>T) c.632A>T (n.632A>T) c.*102A>T (n.*102A>T) c.*293A>T (n.*293A>T) c.141A>T (p.Arg47=) n.319A>T c.1824A>T (p.Arg608=) c.711A>T (p.Arg237=) c.1806A>T (p.Arg602=) c.1521A>T (p.Arg507=) c.303A>T (p.Arg101=) n.751A>T | |
| 17 | g.63488716G>A | CA400557928 | ACE | c.2374G>A (p.Asp792Asn) c.652G>A (p.Asp218Asn) c.*444G>A (n.*444G>A) c.633G>A (n.633G>A) c.*103G>A (n.*103G>A) c.*294G>A (n.*294G>A) c.142G>A (p.Asp48Asn) n.320G>A c.1825G>A (p.Asp609Asn) c.712G>A (p.Asp238Asn) c.1807G>A (p.Asp603Asn) c.1522G>A (p.Asp508Asn) c.304G>A (p.Asp102Asn) n.752G>A | gnomAD v4 |
| 17 | g.63488716G>C | CA400557929 | ACE | c.2374G>C (p.Asp792His) c.652G>C (p.Asp218His) c.*444G>C (n.*444G>C) c.633G>C (n.633G>C) c.*103G>C (n.*103G>C) c.*294G>C (n.*294G>C) c.142G>C (p.Asp48His) n.320G>C c.1825G>C (p.Asp609His) c.712G>C (p.Asp238His) c.1807G>C (p.Asp603His) c.1522G>C (p.Asp508His) c.304G>C (p.Asp102His) n.752G>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63488716G= | CA2269945959 | ACE | c.2374G= (p.Asp792=) c.652G= (p.Asp218=) c.*444G= (n.*444G=) c.633G= (n.633G=) c.*103G= (n.*103G=) c.*294G= (n.*294G=) c.142G= (p.Asp48=) n.320G= c.1825G= (p.Asp609=) c.712G= (p.Asp238=) c.1807G= (p.Asp603=) c.1522G= (p.Asp508=) c.304G= (p.Asp102=) n.752G= | |
| 17 | g.63488716G>T | CA400557930 | ACE | c.2374G>T (p.Asp792Tyr) c.652G>T (p.Asp218Tyr) c.*444G>T (n.*444G>T) c.633G>T (n.633G>T) c.*103G>T (n.*103G>T) c.*294G>T (n.*294G>T) c.142G>T (p.Asp48Tyr) n.320G>T c.1825G>T (p.Asp609Tyr) c.712G>T (p.Asp238Tyr) c.1807G>T (p.Asp603Tyr) c.1522G>T (p.Asp508Tyr) c.304G>T (p.Asp102Tyr) n.752G>T | |
| 17 | g.63488717A>C | CA400557932 | ACE | c.2375A>C (p.Asp792Ala) c.653A>C (p.Asp218Ala) c.*445A>C (n.*445A>C) c.634A>C (n.634A>C) c.*104A>C (n.*104A>C) c.*295A>C (n.*295A>C) c.143A>C (p.Asp48Ala) n.321A>C c.1826A>C (p.Asp609Ala) c.713A>C (p.Asp238Ala) c.1808A>C (p.Asp603Ala) c.1523A>C (p.Asp508Ala) c.305A>C (p.Asp102Ala) n.753A>C | |
| 17 | g.63488717A>G | CA400557933 | ACE | c.2375A>G (p.Asp792Gly) c.653A>G (p.Asp218Gly) c.*445A>G (n.*445A>G) c.634A>G (n.634A>G) c.*104A>G (n.*104A>G) c.*295A>G (n.*295A>G) c.143A>G (p.Asp48Gly) n.321A>G c.1826A>G (p.Asp609Gly) c.713A>G (p.Asp238Gly) c.1808A>G (p.Asp603Gly) c.1523A>G (p.Asp508Gly) c.305A>G (p.Asp102Gly) n.753A>G | |
| 17 | g.63488717A>T | CA400557931 | ACE | c.2375A>T (p.Asp792Val) c.653A>T (p.Asp218Val) c.*445A>T (n.*445A>T) c.634A>T (n.634A>T) c.*104A>T (n.*104A>T) c.*295A>T (n.*295A>T) c.143A>T (p.Asp48Val) n.321A>T c.1826A>T (p.Asp609Val) c.713A>T (p.Asp238Val) c.1808A>T (p.Asp603Val) c.1523A>T (p.Asp508Val) c.305A>T (p.Asp102Val) n.753A>T | |
| 17 | g.63488718C>A | CA400557935 | ACE | c.2376C>A (p.Asp792Glu) c.654C>A (p.Asp218Glu) c.*446C>A (n.*446C>A) c.635C>A (n.635C>A) c.*105C>A (n.*105C>A) c.*296C>A (n.*296C>A) c.144C>A (p.Asp48Glu) n.322C>A c.1827C>A (p.Asp609Glu) c.714C>A (p.Asp238Glu) c.1809C>A (p.Asp603Glu) c.1524C>A (p.Asp508Glu) c.306C>A (p.Asp102Glu) n.754C>A | |
| 17 | g.63488718C= | CA2269945960 | ACE | c.2376C= (p.Asp792=) c.654C= (p.Asp218=) c.*446C= (n.*446C=) c.635C= (n.635C=) c.*105C= (n.*105C=) c.*296C= (n.*296C=) c.144C= (p.Asp48=) n.322C= c.1827C= (p.Asp609=) c.714C= (p.Asp238=) c.1809C= (p.Asp603=) c.1524C= (p.Asp508=) c.306C= (p.Asp102=) n.754C= | |
| 17 | g.63488718C>G | CA400557934 | ACE | c.2376C>G (p.Asp792Glu) c.654C>G (p.Asp218Glu) c.*446C>G (n.*446C>G) c.635C>G (n.635C>G) c.*105C>G (n.*105C>G) c.*296C>G (n.*296C>G) c.144C>G (p.Asp48Glu) n.322C>G c.1827C>G (p.Asp609Glu) c.714C>G (p.Asp238Glu) c.1809C>G (p.Asp603Glu) c.1524C>G (p.Asp508Glu) c.306C>G (p.Asp102Glu) n.754C>G | gnomAD v4 |
| 17 | g.63488718C>T | CA8700076 | ACE | c.2376C>T (p.Asp792=) c.654C>T (p.Asp218=) c.*446C>T (n.*446C>T) c.635C>T (n.635C>T) c.*105C>T (n.*105C>T) c.*296C>T (n.*296C>T) c.144C>T (p.Asp48=) n.322C>T c.1827C>T (p.Asp609=) c.714C>T (p.Asp238=) c.1809C>T (p.Asp603=) c.1524C>T (p.Asp508=) c.306C>T (p.Asp102=) n.754C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63488719A>C | CA400557936 | ACE | c.2377A>C (p.Lys793Gln) c.655A>C (p.Lys219Gln) c.*447A>C (n.*447A>C) c.636A>C (n.636A>C) c.*106A>C (n.*106A>C) c.*297A>C (n.*297A>C) c.145A>C (p.Lys49Gln) n.323A>C c.1828A>C (p.Lys610Gln) c.715A>C (p.Lys239Gln) c.1810A>C (p.Lys604Gln) c.1525A>C (p.Lys509Gln) c.307A>C (p.Lys103Gln) n.755A>C | |
| 17 | g.63488719A>G | CA400557938 | ACE | c.2377A>G (p.Lys793Glu) c.655A>G (p.Lys219Glu) c.*447A>G (n.*447A>G) c.636A>G (n.636A>G) c.*106A>G (n.*106A>G) c.*297A>G (n.*297A>G) c.145A>G (p.Lys49Glu) n.323A>G c.1828A>G (p.Lys610Glu) c.715A>G (p.Lys239Glu) c.1810A>G (p.Lys604Glu) c.1525A>G (p.Lys509Glu) c.307A>G (p.Lys103Glu) n.755A>G | |
| 17 | g.63488719A>T | CA400557937 | ACE | c.2377A>T (p.Lys793Ter) c.655A>T (p.Lys219Ter) c.*447A>T (n.*447A>T) c.636A>T (n.636A>T) c.*106A>T (n.*106A>T) c.*297A>T (n.*297A>T) c.145A>T (p.Lys49Ter) n.323A>T c.1828A>T (p.Lys610Ter) c.715A>T (p.Lys239Ter) c.1810A>T (p.Lys604Ter) c.1525A>T (p.Lys509Ter) c.307A>T (p.Lys103Ter) n.755A>T | |
| 17 | g.63488720A= | CA2269945961 | ACE | c.2378A= (p.Lys793=) c.656A= (p.Lys219=) c.*448A= (n.*448A=) c.637A= (n.637A=) c.*107A= (n.*107A=) c.*298A= (n.*298A=) c.146A= (p.Lys49=) n.324A= c.1829A= (p.Lys610=) c.716A= (p.Lys239=) c.1811A= (p.Lys604=) c.1526A= (p.Lys509=) c.308A= (p.Lys103=) n.756A= | |
| 17 | g.63488720A>C | CA8700077 | ACE | c.2378A>C (p.Lys793Thr) c.656A>C (p.Lys219Thr) c.*448A>C (n.*448A>C) c.637A>C (n.637A>C) c.*107A>C (n.*107A>C) c.*298A>C (n.*298A>C) c.146A>C (p.Lys49Thr) n.324A>C c.1829A>C (p.Lys610Thr) c.716A>C (p.Lys239Thr) c.1811A>C (p.Lys604Thr) c.1526A>C (p.Lys509Thr) c.308A>C (p.Lys103Thr) n.756A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63488720A>G | CA400557939 | ACE | c.2378A>G (p.Lys793Arg) c.656A>G (p.Lys219Arg) c.*448A>G (n.*448A>G) c.637A>G (n.637A>G) c.*107A>G (n.*107A>G) c.*298A>G (n.*298A>G) c.146A>G (p.Lys49Arg) n.324A>G c.1829A>G (p.Lys610Arg) c.716A>G (p.Lys239Arg) c.1811A>G (p.Lys604Arg) c.1526A>G (p.Lys509Arg) c.308A>G (p.Lys103Arg) n.756A>G | |
| 17 | g.63488720A>T | CA400557940 | ACE | c.2378A>T (p.Lys793Met) c.656A>T (p.Lys219Met) c.*448A>T (n.*448A>T) c.637A>T (n.637A>T) c.*107A>T (n.*107A>T) c.*298A>T (n.*298A>T) c.146A>T (p.Lys49Met) n.324A>T c.1829A>T (p.Lys610Met) c.716A>T (p.Lys239Met) c.1811A>T (p.Lys604Met) c.1526A>T (p.Lys509Met) c.308A>T (p.Lys103Met) n.756A>T | dbSNP |
| 17 | g.63488721G>A | CA501187043 | ACE | c.2379G>A (p.Lys793=) c.657G>A (p.Lys219=) c.*449G>A (n.*449G>A) c.638G>A (n.638G>A) c.*108G>A (n.*108G>A) c.*299G>A (n.*299G>A) c.147G>A (p.Lys49=) n.325G>A c.1830G>A (p.Lys610=) c.717G>A (p.Lys239=) c.1812G>A (p.Lys604=) c.1527G>A (p.Lys509=) c.309G>A (p.Lys103=) n.757G>A | |
| 17 | g.63488721G>C | CA400557941 | ACE | c.2379G>C (p.Lys793Asn) c.657G>C (p.Lys219Asn) c.*449G>C (n.*449G>C) c.638G>C (n.638G>C) c.*108G>C (n.*108G>C) c.*299G>C (n.*299G>C) c.147G>C (p.Lys49Asn) n.325G>C c.1830G>C (p.Lys610Asn) c.717G>C (p.Lys239Asn) c.1812G>C (p.Lys604Asn) c.1527G>C (p.Lys509Asn) c.309G>C (p.Lys103Asn) n.757G>C | |
| 17 | g.63488721G>T | CA400557942 | ACE | c.2379G>T (p.Lys793Asn) c.657G>T (p.Lys219Asn) c.*449G>T (n.*449G>T) c.638G>T (n.638G>T) c.*108G>T (n.*108G>T) c.*299G>T (n.*299G>T) c.147G>T (p.Lys49Asn) n.325G>T c.1830G>T (p.Lys610Asn) c.717G>T (p.Lys239Asn) c.1812G>T (p.Lys604Asn) c.1527G>T (p.Lys509Asn) c.309G>T (p.Lys103Asn) n.757G>T | |
| 17 | g.63488722G>A | CA8700078 | ACE | c.2380G>A (p.Ala794Thr) c.658G>A (p.Ala220Thr) c.*450G>A (n.*450G>A) c.639G>A (n.639G>A) c.*109G>A (n.*109G>A) c.*300G>A (n.*300G>A) c.148G>A (p.Ala50Thr) n.326G>A c.1831G>A (p.Ala611Thr) c.718G>A (p.Ala240Thr) c.1813G>A (p.Ala605Thr) c.1528G>A (p.Ala510Thr) c.310G>A (p.Ala104Thr) n.758G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63488722G>C | CA400557943 | ACE | c.2380G>C (p.Ala794Pro) c.658G>C (p.Ala220Pro) c.*450G>C (n.*450G>C) c.639G>C (n.639G>C) c.*109G>C (n.*109G>C) c.*300G>C (n.*300G>C) c.148G>C (p.Ala50Pro) n.326G>C c.1831G>C (p.Ala611Pro) c.718G>C (p.Ala240Pro) c.1813G>C (p.Ala605Pro) c.1528G>C (p.Ala510Pro) c.310G>C (p.Ala104Pro) n.758G>C | |
| 17 | g.63488722G= | CA2269945962 | ACE | c.2380G= (p.Ala794=) c.658G= (p.Ala220=) c.*450G= (n.*450G=) c.639G= (n.639G=) c.*109G= (n.*109G=) c.*300G= (n.*300G=) c.148G= (p.Ala50=) n.326G= c.1831G= (p.Ala611=) c.718G= (p.Ala240=) c.1813G= (p.Ala605=) c.1528G= (p.Ala510=) c.310G= (p.Ala104=) n.758G= | |
| 17 | g.63488722G>T | CA400557944 | ACE | c.2380G>T (p.Ala794Ser) c.658G>T (p.Ala220Ser) c.*450G>T (n.*450G>T) c.639G>T (n.639G>T) c.*109G>T (n.*109G>T) c.*300G>T (n.*300G>T) c.148G>T (p.Ala50Ser) n.326G>T c.1831G>T (p.Ala611Ser) c.718G>T (p.Ala240Ser) c.1813G>T (p.Ala605Ser) c.1528G>T (p.Ala510Ser) c.310G>T (p.Ala104Ser) n.758G>T | |
| 17 | g.63488723C>A | CA400557945 | ACE | c.2381C>A (p.Ala794Glu) c.659C>A (p.Ala220Glu) c.*451C>A (n.*451C>A) c.640C>A (n.640C>A) c.*110C>A (n.*110C>A) c.*301C>A (n.*301C>A) c.149C>A (p.Ala50Glu) n.327C>A c.1832C>A (p.Ala611Glu) c.719C>A (p.Ala240Glu) c.1814C>A (p.Ala605Glu) c.1529C>A (p.Ala510Glu) c.311C>A (p.Ala104Glu) n.759C>A | |
| 17 | g.63488723C= | CA2269945963 | ACE | c.2381C= (p.Ala794=) c.659C= (p.Ala220=) c.*451C= (n.*451C=) c.640C= (n.640C=) c.*110C= (n.*110C=) c.*301C= (n.*301C=) c.149C= (p.Ala50=) n.327C= c.1832C= (p.Ala611=) c.719C= (p.Ala240=) c.1814C= (p.Ala605=) c.1529C= (p.Ala510=) c.311C= (p.Ala104=) n.759C= | |
| 17 | g.63488723C>G | CA400557946 | ACE | c.2381C>G (p.Ala794Gly) c.659C>G (p.Ala220Gly) c.*451C>G (n.*451C>G) c.640C>G (n.640C>G) c.*110C>G (n.*110C>G) c.*301C>G (n.*301C>G) c.149C>G (p.Ala50Gly) n.327C>G c.1832C>G (p.Ala611Gly) c.719C>G (p.Ala240Gly) c.1814C>G (p.Ala605Gly) c.1529C>G (p.Ala510Gly) c.311C>G (p.Ala104Gly) n.759C>G | |
| 17 | g.63488723C>T | CA8700079 | ACE | c.2381C>T (p.Ala794Val) c.659C>T (p.Ala220Val) c.*451C>T (n.*451C>T) c.640C>T (n.640C>T) c.*110C>T (n.*110C>T) c.*301C>T (n.*301C>T) c.149C>T (p.Ala50Val) n.327C>T c.1832C>T (p.Ala611Val) c.719C>T (p.Ala240Val) c.1814C>T (p.Ala605Val) c.1529C>T (p.Ala510Val) c.311C>T (p.Ala104Val) n.759C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 17 | g.63488724G>A | CA8700080 | ACE | c.2382G>A (p.Ala794=) c.660G>A (p.Ala220=) c.*452G>A (n.*452G>A) c.641G>A (n.641G>A) c.*111G>A (n.*111G>A) c.*302G>A (n.*302G>A) c.150G>A (p.Ala50=) n.328G>A c.1833G>A (p.Ala611=) c.720G>A (p.Ala240=) c.1815G>A (p.Ala605=) c.1530G>A (p.Ala510=) c.312G>A (p.Ala104=) n.760G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63488724G>C | CA8700081 | ACE | c.2382G>C (p.Ala794=) c.660G>C (p.Ala220=) c.*452G>C (n.*452G>C) c.641G>C (n.641G>C) c.*111G>C (n.*111G>C) c.*302G>C (n.*302G>C) c.150G>C (p.Ala50=) n.328G>C c.1833G>C (p.Ala611=) c.720G>C (p.Ala240=) c.1815G>C (p.Ala605=) c.1530G>C (p.Ala510=) c.312G>C (p.Ala104=) n.760G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63488724G= | CA2269945964 | ACE | c.2382G= (p.Ala794=) c.660G= (p.Ala220=) c.*452G= (n.*452G=) c.641G= (n.641G=) c.*111G= (n.*111G=) c.*302G= (n.*302G=) c.150G= (p.Ala50=) n.328G= c.1833G= (p.Ala611=) c.720G= (p.Ala240=) c.1815G= (p.Ala605=) c.1530G= (p.Ala510=) c.312G= (p.Ala104=) n.760G= | |
| 17 | g.63488724G>T | CA501187063 | ACE | c.2382G>T (p.Ala794=) c.660G>T (p.Ala220=) c.*452G>T (n.*452G>T) c.641G>T (n.641G>T) c.*111G>T (n.*111G>T) c.*302G>T (n.*302G>T) c.150G>T (p.Ala50=) n.328G>T c.1833G>T (p.Ala611=) c.720G>T (p.Ala240=) c.1815G>T (p.Ala605=) c.1530G>T (p.Ala510=) c.312G>T (p.Ala104=) n.760G>T | |
| 17 | g.63488725G>A | CA400557947 | ACE | c.2383G>A (p.Gly795Arg) c.661G>A (p.Gly221Arg) c.*453G>A (n.*453G>A) c.642G>A (n.642G>A) c.*112G>A (n.*112G>A) c.*303G>A (n.*303G>A) c.151G>A (p.Gly51Arg) n.329G>A c.1834G>A (p.Gly612Arg) c.721G>A (p.Gly241Arg) c.1816G>A (p.Gly606Arg) c.1531G>A (p.Gly511Arg) c.313G>A (p.Gly105Arg) n.761G>A | dbSNP gnomAD v4 |
| 17 | g.63488725G>C | CA400557948 | ACE | c.2383G>C (p.Gly795Arg) c.661G>C (p.Gly221Arg) c.*453G>C (n.*453G>C) c.642G>C (n.642G>C) c.*112G>C (n.*112G>C) c.*303G>C (n.*303G>C) c.151G>C (p.Gly51Arg) n.329G>C c.1834G>C (p.Gly612Arg) c.721G>C (p.Gly241Arg) c.1816G>C (p.Gly606Arg) c.1531G>C (p.Gly511Arg) c.313G>C (p.Gly105Arg) n.761G>C | |
| 17 | g.63488725G= | CA2269945965 | ACE | c.2383G= (p.Gly795=) c.661G= (p.Gly221=) c.*453G= (n.*453G=) c.642G= (n.642G=) c.*112G= (n.*112G=) c.*303G= (n.*303G=) c.151G= (p.Gly51=) n.329G= c.1834G= (p.Gly612=) c.721G= (p.Gly241=) c.1816G= (p.Gly606=) c.1531G= (p.Gly511=) c.313G= (p.Gly105=) n.761G= | |
| 17 | g.63488725G>T | CA400557949 | ACE | c.2383G>T (p.Gly795Trp) c.661G>T (p.Gly221Trp) c.*453G>T (n.*453G>T) c.642G>T (n.642G>T) c.*112G>T (n.*112G>T) c.*303G>T (n.*303G>T) c.151G>T (p.Gly51Trp) n.329G>T c.1834G>T (p.Gly612Trp) c.721G>T (p.Gly241Trp) c.1816G>T (p.Gly606Trp) c.1531G>T (p.Gly511Trp) c.313G>T (p.Gly105Trp) n.761G>T | |
| 17 | g.63488726G>A | CA400557950 | ACE | c.2384G>A (p.Gly795Glu) c.662G>A (p.Gly221Glu) c.*454G>A (n.*454G>A) c.643G>A (n.643G>A) c.*113G>A (n.*113G>A) c.*304G>A (n.*304G>A) c.152G>A (p.Gly51Glu) n.330G>A c.1835G>A (p.Gly612Glu) c.722G>A (p.Gly241Glu) c.1817G>A (p.Gly606Glu) c.1532G>A (p.Gly511Glu) c.314G>A (p.Gly105Glu) n.762G>A | COSMIC COSMIC COSMIC |
| 17 | g.63488726G>C | CA400557952 | ACE | c.2384G>C (p.Gly795Ala) c.662G>C (p.Gly221Ala) c.*454G>C (n.*454G>C) c.643G>C (n.643G>C) c.*113G>C (n.*113G>C) c.*304G>C (n.*304G>C) c.152G>C (p.Gly51Ala) n.330G>C c.1835G>C (p.Gly612Ala) c.722G>C (p.Gly241Ala) c.1817G>C (p.Gly606Ala) c.1532G>C (p.Gly511Ala) c.314G>C (p.Gly105Ala) n.762G>C |