UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.123291363T>A | CA354223870 | ADCY5 | c.1754A>T (p.Lys585Ile) c.2042A>T (p.Lys681Ile) n.1480A>T c.3152A>T (p.Lys1051Ile) c.3077A>T (p.Lys1026Ile) c.2027A>T (p.Lys676Ile) c.2051A>T (p.Lys684Ile) c.2102A>T (p.Lys701Ile) c.1829A>T (p.Lys610Ile) c.2153A>T (p.Lys718Ile) c.2063A>T (p.Lys688Ile) c.2054A>T (p.Lys685Ile) | |
| 3 | g.123291363T>C | CA354223868 | ADCY5 | c.1754A>G (p.Lys585Arg) c.2042A>G (p.Lys681Arg) n.1480A>G c.3152A>G (p.Lys1051Arg) c.3077A>G (p.Lys1026Arg) c.2027A>G (p.Lys676Arg) c.2051A>G (p.Lys684Arg) c.2102A>G (p.Lys701Arg) c.1829A>G (p.Lys610Arg) c.2153A>G (p.Lys718Arg) c.2063A>G (p.Lys688Arg) c.2054A>G (p.Lys685Arg) | |
| 3 | g.123291363T>G | CA354223869 | ADCY5 | c.1754A>C (p.Lys585Thr) c.2042A>C (p.Lys681Thr) n.1480A>C c.3152A>C (p.Lys1051Thr) c.3077A>C (p.Lys1026Thr) c.2027A>C (p.Lys676Thr) c.2051A>C (p.Lys684Thr) c.2102A>C (p.Lys701Thr) c.1829A>C (p.Lys610Thr) c.2153A>C (p.Lys718Thr) c.2063A>C (p.Lys688Thr) c.2054A>C (p.Lys685Thr) | |
| 3 | g.123291364T>A | CA354223871 | ADCY5 | c.1753A>T (p.Lys585Ter) c.2041A>T (p.Lys681Ter) n.1479A>T c.3151A>T (p.Lys1051Ter) c.3076A>T (p.Lys1026Ter) c.2026A>T (p.Lys676Ter) c.2050A>T (p.Lys684Ter) c.2101A>T (p.Lys701Ter) c.1828A>T (p.Lys610Ter) c.2152A>T (p.Lys718Ter) c.2062A>T (p.Lys688Ter) c.2053A>T (p.Lys685Ter) | dbSNP |
| 3 | g.123291364T>C | CA354223872 | ADCY5 | c.1753A>G (p.Lys585Glu) c.2041A>G (p.Lys681Glu) n.1479A>G c.3151A>G (p.Lys1051Glu) c.3076A>G (p.Lys1026Glu) c.2026A>G (p.Lys676Glu) c.2050A>G (p.Lys684Glu) c.2101A>G (p.Lys701Glu) c.1828A>G (p.Lys610Glu) c.2152A>G (p.Lys718Glu) c.2062A>G (p.Lys688Glu) c.2053A>G (p.Lys685Glu) | |
| 3 | g.123291364T>G | CA354223873 | ADCY5 | c.1753A>C (p.Lys585Gln) c.2041A>C (p.Lys681Gln) n.1479A>C c.3151A>C (p.Lys1051Gln) c.3076A>C (p.Lys1026Gln) c.2026A>C (p.Lys676Gln) c.2050A>C (p.Lys684Gln) c.2101A>C (p.Lys701Gln) c.1828A>C (p.Lys610Gln) c.2152A>C (p.Lys718Gln) c.2062A>C (p.Lys688Gln) c.2053A>C (p.Lys685Gln) | |
| 3 | g.123291364T= | CA1398330457 | ADCY5 | c.1753A= (p.Lys585=) c.2041A= (p.Lys681=) n.1479A= c.3151A= (p.Lys1051=) c.3076A= (p.Lys1026=) c.2026A= (p.Lys676=) c.2050A= (p.Lys684=) c.2101A= (p.Lys701=) c.1828A= (p.Lys610=) c.2152A= (p.Lys718=) c.2062A= (p.Lys688=) c.2053A= (p.Lys685=) | |
| 3 | g.123291365C>A | CA354223874 | ADCY5 | c.1752G>T (p.Glu584Asp) c.2040G>T (p.Glu680Asp) n.1478G>T c.3150G>T (p.Glu1050Asp) c.3075G>T (p.Glu1025Asp) c.2025G>T (p.Glu675Asp) c.2049G>T (p.Glu683Asp) c.2100G>T (p.Glu700Asp) c.1827G>T (p.Glu609Asp) c.2151G>T (p.Glu717Asp) c.2061G>T (p.Glu687Asp) c.2052G>T (p.Glu684Asp) | |
| 3 | g.123291365C>G | CA354223875 | ADCY5 | c.1752G>C (p.Glu584Asp) c.2040G>C (p.Glu680Asp) n.1478G>C c.3150G>C (p.Glu1050Asp) c.3075G>C (p.Glu1025Asp) c.2025G>C (p.Glu675Asp) c.2049G>C (p.Glu683Asp) c.2100G>C (p.Glu700Asp) c.1827G>C (p.Glu609Asp) c.2151G>C (p.Glu717Asp) c.2061G>C (p.Glu687Asp) c.2052G>C (p.Glu684Asp) | |
| 3 | g.123291365C>T | CA435431366 | ADCY5 | c.1752G>A (p.Glu584=) c.2040G>A (p.Glu680=) n.1478G>A c.3150G>A (p.Glu1050=) c.3075G>A (p.Glu1025=) c.2025G>A (p.Glu675=) c.2049G>A (p.Glu683=) c.2100G>A (p.Glu700=) c.1827G>A (p.Glu609=) c.2151G>A (p.Glu717=) c.2061G>A (p.Glu687=) c.2052G>A (p.Glu684=) | |
| 3 | g.123291366T>A | CA354223876 | ADCY5 | c.1751A>T (p.Glu584Val) c.2039A>T (p.Glu680Val) n.1477A>T c.3149A>T (p.Glu1050Val) c.3074A>T (p.Glu1025Val) c.2024A>T (p.Glu675Val) c.2048A>T (p.Glu683Val) c.2099A>T (p.Glu700Val) c.1826A>T (p.Glu609Val) c.2150A>T (p.Glu717Val) c.2060A>T (p.Glu687Val) c.2051A>T (p.Glu684Val) | |
| 3 | g.123291366T>C | CA354223878 | ADCY5 | c.1751A>G (p.Glu584Gly) c.2039A>G (p.Glu680Gly) n.1477A>G c.3149A>G (p.Glu1050Gly) c.3074A>G (p.Glu1025Gly) c.2024A>G (p.Glu675Gly) c.2048A>G (p.Glu683Gly) c.2099A>G (p.Glu700Gly) c.1826A>G (p.Glu609Gly) c.2150A>G (p.Glu717Gly) c.2060A>G (p.Glu687Gly) c.2051A>G (p.Glu684Gly) | ClinVar dbSNP |
| 3 | g.123291366T>G | CA354223877 | ADCY5 | c.1751A>C (p.Glu584Ala) c.2039A>C (p.Glu680Ala) n.1477A>C c.3149A>C (p.Glu1050Ala) c.3074A>C (p.Glu1025Ala) c.2024A>C (p.Glu675Ala) c.2048A>C (p.Glu683Ala) c.2099A>C (p.Glu700Ala) c.1826A>C (p.Glu609Ala) c.2150A>C (p.Glu717Ala) c.2060A>C (p.Glu687Ala) c.2051A>C (p.Glu684Ala) | ClinVar dbSNP |
| 3 | g.123291366T= | CA1398330458 | ADCY5 | c.1751A= (p.Glu584=) c.2039A= (p.Glu680=) n.1477A= c.3149A= (p.Glu1050=) c.3074A= (p.Glu1025=) c.2024A= (p.Glu675=) c.2048A= (p.Glu683=) c.2099A= (p.Glu700=) c.1826A= (p.Glu609=) c.2150A= (p.Glu717=) c.2060A= (p.Glu687=) c.2051A= (p.Glu684=) | |
| 3 | g.123291367C>A | CA354223879 | ADCY5 | c.1750G>T (p.Glu584Ter) c.2038G>T (p.Glu680Ter) n.1476G>T c.3148G>T (p.Glu1050Ter) c.3073G>T (p.Glu1025Ter) c.2023G>T (p.Glu675Ter) c.2047G>T (p.Glu683Ter) c.2098G>T (p.Glu700Ter) c.1825G>T (p.Glu609Ter) c.2149G>T (p.Glu717Ter) c.2059G>T (p.Glu687Ter) c.2050G>T (p.Glu684Ter) | dbSNP |
| 3 | g.123291367C= | CA1398330459 | ADCY5 | c.1750G= (p.Glu584=) c.2038G= (p.Glu680=) n.1476G= c.3148G= (p.Glu1050=) c.3073G= (p.Glu1025=) c.2023G= (p.Glu675=) c.2047G= (p.Glu683=) c.2098G= (p.Glu700=) c.1825G= (p.Glu609=) c.2149G= (p.Glu717=) c.2059G= (p.Glu687=) c.2050G= (p.Glu684=) | |
| 3 | g.123291367C>G | CA354223880 | ADCY5 | c.1750G>C (p.Glu584Gln) c.2038G>C (p.Glu680Gln) n.1476G>C c.3148G>C (p.Glu1050Gln) c.3073G>C (p.Glu1025Gln) c.2023G>C (p.Glu675Gln) c.2047G>C (p.Glu683Gln) c.2098G>C (p.Glu700Gln) c.1825G>C (p.Glu609Gln) c.2149G>C (p.Glu717Gln) c.2059G>C (p.Glu687Gln) c.2050G>C (p.Glu684Gln) | |
| 3 | g.123291367C>T | CA354223881 | ADCY5 | c.1750G>A (p.Glu584Lys) c.2038G>A (p.Glu680Lys) n.1476G>A c.3148G>A (p.Glu1050Lys) c.3073G>A (p.Glu1025Lys) c.2023G>A (p.Glu675Lys) c.2047G>A (p.Glu683Lys) c.2098G>A (p.Glu700Lys) c.1825G>A (p.Glu609Lys) c.2149G>A (p.Glu717Lys) c.2059G>A (p.Glu687Lys) c.2050G>A (p.Glu684Lys) | ClinVar dbSNP |
| 3 | g.123291367_123291368insGCCCGTCGC | CA2519265323 | ADCY5 | c.1750_1751insCGACGGGCG (p.Glu583_Glu584insAlaThrGly) c.2038_2039insCGACGGGCG (p.Glu679_Glu680insAlaThrGly) n.1476_1477insCGACGGGCG c.3148_3149insCGACGGGCG (p.Glu1049_Glu1050insAlaThrGly) c.3073_3074insCGACGGGCG (p.Glu1024_Glu1025insAlaThrGly) c.2023_2024insCGACGGGCG (p.Glu674_Glu675insAlaThrGly) c.2047_2048insCGACGGGCG (p.Glu682_Glu683insAlaThrGly) c.2098_2099insCGACGGGCG (p.Glu699_Glu700insAlaThrGly) c.1825_1826insCGACGGGCG (p.Glu608_Glu609insAlaThrGly) c.2149_2150insCGACGGGCG (p.Glu716_Glu717insAlaThrGly) c.2059_2060insCGACGGGCG (p.Glu686_Glu687insAlaThrGly) c.2050_2051insCGACGGGCG (p.Glu683_Glu684insAlaThrGly) | |
| 3 | g.123291367_123291369delinsCCT | CA1398330460 | ADCY5 | c.1748_1750delinsAGG (p.Glu583=) c.2036_2038delinsAGG (p.Glu679=) n.1474_1476delinsAGG c.3146_3148delinsAGG (p.Glu1049=) c.3071_3073delinsAGG (p.Glu1024=) c.2021_2023delinsAGG (p.Glu674=) c.2045_2047delinsAGG (p.Glu682=) c.2096_2098delinsAGG (p.Glu699=) c.1823_1825delinsAGG (p.Glu608=) c.2147_2149delinsAGG (p.Glu716=) c.2057_2059delinsAGG (p.Glu686=) c.2048_2050delinsAGG (p.Glu683=) | |
| 3 | g.123291368C>A | CA354223882 | ADCY5 | c.1749G>T (p.Glu583Asp) c.2037G>T (p.Glu679Asp) n.1475G>T c.3147G>T (p.Glu1049Asp) c.3072G>T (p.Glu1024Asp) c.2022G>T (p.Glu674Asp) c.2046G>T (p.Glu682Asp) c.2097G>T (p.Glu699Asp) c.1824G>T (p.Glu608Asp) c.2148G>T (p.Glu716Asp) c.2058G>T (p.Glu686Asp) c.2049G>T (p.Glu683Asp) | COSMIC |
| 3 | g.123291368C>G | CA354223883 | ADCY5 | c.1749G>C (p.Glu583Asp) c.2037G>C (p.Glu679Asp) n.1475G>C c.3147G>C (p.Glu1049Asp) c.3072G>C (p.Glu1024Asp) c.2022G>C (p.Glu674Asp) c.2046G>C (p.Glu682Asp) c.2097G>C (p.Glu699Asp) c.1824G>C (p.Glu608Asp) c.2148G>C (p.Glu716Asp) c.2058G>C (p.Glu686Asp) c.2049G>C (p.Glu683Asp) | |
| 3 | g.123291368C>T | CA435431368 | ADCY5 | c.1749G>A (p.Glu583=) c.2037G>A (p.Glu679=) n.1475G>A c.3147G>A (p.Glu1049=) c.3072G>A (p.Glu1024=) c.2022G>A (p.Glu674=) c.2046G>A (p.Glu682=) c.2097G>A (p.Glu699=) c.1824G>A (p.Glu608=) c.2148G>A (p.Glu716=) c.2058G>A (p.Glu686=) c.2049G>A (p.Glu683=) | gnomAD v4 |
| 3 | g.123291370_123291371del | CA1398330461 | ADCY5 | c.1748_1749del (p.Glu583GlyfsTer?) c.2036_2037del (p.Glu679GlyfsTer?) n.1474_1475del c.3146_3147del (p.Glu1049GlyfsTer?) c.3071_3072del (p.Glu1024GlyfsTer?) c.2021_2022del (p.Glu674GlyfsTer?) c.2045_2046del (p.Glu682GlyfsTer?) c.2096_2097del (p.Glu699GlyfsTer?) c.1823_1824del (p.Glu608GlyfsTer?) c.2147_2148del (p.Glu716GlyfsTer?) c.2057_2058del (p.Glu686GlyfsTer?) c.2048_2049del (p.Glu683GlyfsTer?) | dbSNP |
| 3 | g.123291369T>A | CA354223884 | ADCY5 | c.1748A>T (p.Glu583Val) c.2036A>T (p.Glu679Val) n.1474A>T c.3146A>T (p.Glu1049Val) c.3071A>T (p.Glu1024Val) c.2021A>T (p.Glu674Val) c.2045A>T (p.Glu682Val) c.2096A>T (p.Glu699Val) c.1823A>T (p.Glu608Val) c.2147A>T (p.Glu716Val) c.2057A>T (p.Glu686Val) c.2048A>T (p.Glu683Val) | |
| 3 | g.123291369T>C | CA354223885 | ADCY5 | c.1748A>G (p.Glu583Gly) c.2036A>G (p.Glu679Gly) n.1474A>G c.3146A>G (p.Glu1049Gly) c.3071A>G (p.Glu1024Gly) c.2021A>G (p.Glu674Gly) c.2045A>G (p.Glu682Gly) c.2096A>G (p.Glu699Gly) c.1823A>G (p.Glu608Gly) c.2147A>G (p.Glu716Gly) c.2057A>G (p.Glu686Gly) c.2048A>G (p.Glu683Gly) | |
| 3 | g.123291369T>G | CA354223886 | ADCY5 | c.1748A>C (p.Glu583Ala) c.2036A>C (p.Glu679Ala) n.1474A>C c.3146A>C (p.Glu1049Ala) c.3071A>C (p.Glu1024Ala) c.2021A>C (p.Glu674Ala) c.2045A>C (p.Glu682Ala) c.2096A>C (p.Glu699Ala) c.1823A>C (p.Glu608Ala) c.2147A>C (p.Glu716Ala) c.2057A>C (p.Glu686Ala) c.2048A>C (p.Glu683Ala) | |
| 3 | g.123291370C>A | CA354223887 | ADCY5 | c.1747G>T (p.Glu583Ter) c.2035G>T (p.Glu679Ter) n.1473G>T c.3145G>T (p.Glu1049Ter) c.3070G>T (p.Glu1024Ter) c.2020G>T (p.Glu674Ter) c.2044G>T (p.Glu682Ter) c.2095G>T (p.Glu699Ter) c.1822G>T (p.Glu608Ter) c.2146G>T (p.Glu716Ter) c.2056G>T (p.Glu686Ter) c.2047G>T (p.Glu683Ter) | dbSNP |
| 3 | g.123291370C= | CA1398330462 | ADCY5 | c.1747G= (p.Glu583=) c.2035G= (p.Glu679=) n.1473G= c.3145G= (p.Glu1049=) c.3070G= (p.Glu1024=) c.2020G= (p.Glu674=) c.2044G= (p.Glu682=) c.2095G= (p.Glu699=) c.1822G= (p.Glu608=) c.2146G= (p.Glu716=) c.2056G= (p.Glu686=) c.2047G= (p.Glu683=) | |
| 3 | g.123291370C>G | CA354223888 | ADCY5 | c.1747G>C (p.Glu583Gln) c.2035G>C (p.Glu679Gln) n.1473G>C c.3145G>C (p.Glu1049Gln) c.3070G>C (p.Glu1024Gln) c.2020G>C (p.Glu674Gln) c.2044G>C (p.Glu682Gln) c.2095G>C (p.Glu699Gln) c.1822G>C (p.Glu608Gln) c.2146G>C (p.Glu716Gln) c.2056G>C (p.Glu686Gln) c.2047G>C (p.Glu683Gln) | |
| 3 | g.123291370C>T | CA354223889 | ADCY5 | c.1747G>A (p.Glu583Lys) c.2035G>A (p.Glu679Lys) n.1473G>A c.3145G>A (p.Glu1049Lys) c.3070G>A (p.Glu1024Lys) c.2020G>A (p.Glu674Lys) c.2044G>A (p.Glu682Lys) c.2095G>A (p.Glu699Lys) c.1822G>A (p.Glu608Lys) c.2146G>A (p.Glu716Lys) c.2056G>A (p.Glu686Lys) c.2047G>A (p.Glu683Lys) | |
| 3 | g.123291371T>A | CA435431372 | ADCY5 | c.1746A>T (p.Thr582=) c.2034A>T (p.Thr678=) n.1472A>T c.3144A>T (p.Thr1048=) c.3069A>T (p.Thr1023=) c.2019A>T (p.Thr673=) c.2043A>T (p.Thr681=) c.2094A>T (p.Thr698=) c.1821A>T (p.Thr607=) c.2145A>T (p.Thr715=) c.2055A>T (p.Thr685=) c.2046A>T (p.Thr682=) | |
| 3 | g.123291371T>C | CA435431374 | ADCY5 | c.1746A>G (p.Thr582=) c.2034A>G (p.Thr678=) n.1472A>G c.3144A>G (p.Thr1048=) c.3069A>G (p.Thr1023=) c.2019A>G (p.Thr673=) c.2043A>G (p.Thr681=) c.2094A>G (p.Thr698=) c.1821A>G (p.Thr607=) c.2145A>G (p.Thr715=) c.2055A>G (p.Thr685=) c.2046A>G (p.Thr682=) | |
| 3 | g.123291371T>G | CA435431371 | ADCY5 | c.1746A>C (p.Thr582=) c.2034A>C (p.Thr678=) n.1472A>C c.3144A>C (p.Thr1048=) c.3069A>C (p.Thr1023=) c.2019A>C (p.Thr673=) c.2043A>C (p.Thr681=) c.2094A>C (p.Thr698=) c.1821A>C (p.Thr607=) c.2145A>C (p.Thr715=) c.2055A>C (p.Thr685=) c.2046A>C (p.Thr682=) | |
| 3 | g.123291372G>A | CA354223890 | ADCY5 | c.1745C>T (p.Thr582Ile) c.2033C>T (p.Thr678Ile) n.1471C>T c.3143C>T (p.Thr1048Ile) c.3068C>T (p.Thr1023Ile) c.2018C>T (p.Thr673Ile) c.2042C>T (p.Thr681Ile) c.2093C>T (p.Thr698Ile) c.1820C>T (p.Thr607Ile) c.2144C>T (p.Thr715Ile) c.2054C>T (p.Thr685Ile) c.2045C>T (p.Thr682Ile) | |
| 3 | g.123291372G>C | CA354223892 | ADCY5 | c.1745C>G (p.Thr582Arg) c.2033C>G (p.Thr678Arg) n.1471C>G c.3143C>G (p.Thr1048Arg) c.3068C>G (p.Thr1023Arg) c.2018C>G (p.Thr673Arg) c.2042C>G (p.Thr681Arg) c.2093C>G (p.Thr698Arg) c.1820C>G (p.Thr607Arg) c.2144C>G (p.Thr715Arg) c.2054C>G (p.Thr685Arg) c.2045C>G (p.Thr682Arg) | |
| 3 | g.123291372G>T | CA354223891 | ADCY5 | c.1745C>A (p.Thr582Lys) c.2033C>A (p.Thr678Lys) n.1471C>A c.3143C>A (p.Thr1048Lys) c.3068C>A (p.Thr1023Lys) c.2018C>A (p.Thr673Lys) c.2042C>A (p.Thr681Lys) c.2093C>A (p.Thr698Lys) c.1820C>A (p.Thr607Lys) c.2144C>A (p.Thr715Lys) c.2054C>A (p.Thr685Lys) c.2045C>A (p.Thr682Lys) | |
| 3 | g.123291373T>A | CA354223893 | ADCY5 | c.1744A>T (p.Thr582Ser) c.2032A>T (p.Thr678Ser) n.1470A>T c.3142A>T (p.Thr1048Ser) c.3067A>T (p.Thr1023Ser) c.2017A>T (p.Thr673Ser) c.2041A>T (p.Thr681Ser) c.2092A>T (p.Thr698Ser) c.1819A>T (p.Thr607Ser) c.2143A>T (p.Thr715Ser) c.2053A>T (p.Thr685Ser) c.2044A>T (p.Thr682Ser) | |
| 3 | g.123291373T>C | CA354223895 | ADCY5 | c.1744A>G (p.Thr582Ala) c.2032A>G (p.Thr678Ala) n.1470A>G c.3142A>G (p.Thr1048Ala) c.3067A>G (p.Thr1023Ala) c.2017A>G (p.Thr673Ala) c.2041A>G (p.Thr681Ala) c.2092A>G (p.Thr698Ala) c.1819A>G (p.Thr607Ala) c.2143A>G (p.Thr715Ala) c.2053A>G (p.Thr685Ala) c.2044A>G (p.Thr682Ala) | |
| 3 | g.123291373T>G | CA354223894 | ADCY5 | c.1744A>C (p.Thr582Pro) c.2032A>C (p.Thr678Pro) n.1470A>C c.3142A>C (p.Thr1048Pro) c.3067A>C (p.Thr1023Pro) c.2017A>C (p.Thr673Pro) c.2041A>C (p.Thr681Pro) c.2092A>C (p.Thr698Pro) c.1819A>C (p.Thr607Pro) c.2143A>C (p.Thr715Pro) c.2053A>C (p.Thr685Pro) c.2044A>C (p.Thr682Pro) | |
| 3 | g.123291374G>A | CA435431377 | ADCY5 | c.1743C>T (p.Ala581=) c.2031C>T (p.Ala677=) n.1469C>T c.3141C>T (p.Ala1047=) c.3066C>T (p.Ala1022=) c.2016C>T (p.Ala672=) c.2040C>T (p.Ala680=) c.2091C>T (p.Ala697=) c.1818C>T (p.Ala606=) c.2142C>T (p.Ala714=) c.2052C>T (p.Ala684=) c.2043C>T (p.Ala681=) | |
| 3 | g.123291374G>C | CA435431376 | ADCY5 | c.1743C>G (p.Ala581=) c.2031C>G (p.Ala677=) n.1469C>G c.3141C>G (p.Ala1047=) c.3066C>G (p.Ala1022=) c.2016C>G (p.Ala672=) c.2040C>G (p.Ala680=) c.2091C>G (p.Ala697=) c.1818C>G (p.Ala606=) c.2142C>G (p.Ala714=) c.2052C>G (p.Ala684=) c.2043C>G (p.Ala681=) | |
| 3 | g.123291374G>T | CA435431375 | ADCY5 | c.1743C>A (p.Ala581=) c.2031C>A (p.Ala677=) n.1469C>A c.3141C>A (p.Ala1047=) c.3066C>A (p.Ala1022=) c.2016C>A (p.Ala672=) c.2040C>A (p.Ala680=) c.2091C>A (p.Ala697=) c.1818C>A (p.Ala606=) c.2142C>A (p.Ala714=) c.2052C>A (p.Ala684=) c.2043C>A (p.Ala681=) | |
| 3 | g.123291375G>A | CA354223896 | ADCY5 | c.1742C>T (p.Ala581Val) c.2030C>T (p.Ala677Val) n.1468C>T c.3140C>T (p.Ala1047Val) c.3065C>T (p.Ala1022Val) c.2015C>T (p.Ala672Val) c.2039C>T (p.Ala680Val) c.2090C>T (p.Ala697Val) c.1817C>T (p.Ala606Val) c.2141C>T (p.Ala714Val) c.2051C>T (p.Ala684Val) c.2042C>T (p.Ala681Val) | |
| 3 | g.123291375G>C | CA354223897 | ADCY5 | c.1742C>G (p.Ala581Gly) c.2030C>G (p.Ala677Gly) n.1468C>G c.3140C>G (p.Ala1047Gly) c.3065C>G (p.Ala1022Gly) c.2015C>G (p.Ala672Gly) c.2039C>G (p.Ala680Gly) c.2090C>G (p.Ala697Gly) c.1817C>G (p.Ala606Gly) c.2141C>G (p.Ala714Gly) c.2051C>G (p.Ala684Gly) c.2042C>G (p.Ala681Gly) | |
| 3 | g.123291375G= | CA1398330463 | ADCY5 | c.1742C= (p.Ala581=) c.2030C= (p.Ala677=) n.1468C= c.3140C= (p.Ala1047=) c.3065C= (p.Ala1022=) c.2015C= (p.Ala672=) c.2039C= (p.Ala680=) c.2090C= (p.Ala697=) c.1817C= (p.Ala606=) c.2141C= (p.Ala714=) c.2051C= (p.Ala684=) c.2042C= (p.Ala681=) | |
| 3 | g.123291375G>T | CA354223898 | ADCY5 | c.1742C>A (p.Ala581Asp) c.2030C>A (p.Ala677Asp) n.1468C>A c.3140C>A (p.Ala1047Asp) c.3065C>A (p.Ala1022Asp) c.2015C>A (p.Ala672Asp) c.2039C>A (p.Ala680Asp) c.2090C>A (p.Ala697Asp) c.1817C>A (p.Ala606Asp) c.2141C>A (p.Ala714Asp) c.2051C>A (p.Ala684Asp) c.2042C>A (p.Ala681Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.123291376C>A | CA354223899 | ADCY5 | c.1741G>T (p.Ala581Ser) c.2029G>T (p.Ala677Ser) n.1467G>T c.3139G>T (p.Ala1047Ser) c.3064G>T (p.Ala1022Ser) c.2014G>T (p.Ala672Ser) c.2038G>T (p.Ala680Ser) c.2089G>T (p.Ala697Ser) c.1816G>T (p.Ala606Ser) c.2140G>T (p.Ala714Ser) c.2050G>T (p.Ala684Ser) c.2041G>T (p.Ala681Ser) | |
| 3 | g.123291376C>G | CA354223900 | ADCY5 | c.1741G>C (p.Ala581Pro) c.2029G>C (p.Ala677Pro) n.1467G>C c.3139G>C (p.Ala1047Pro) c.3064G>C (p.Ala1022Pro) c.2014G>C (p.Ala672Pro) c.2038G>C (p.Ala680Pro) c.2089G>C (p.Ala697Pro) c.1816G>C (p.Ala606Pro) c.2140G>C (p.Ala714Pro) c.2050G>C (p.Ala684Pro) c.2041G>C (p.Ala681Pro) | |
| 3 | g.123291376C>T | CA354223901 | ADCY5 | c.1741G>A (p.Ala581Thr) c.2029G>A (p.Ala677Thr) n.1467G>A c.3139G>A (p.Ala1047Thr) c.3064G>A (p.Ala1022Thr) c.2014G>A (p.Ala672Thr) c.2038G>A (p.Ala680Thr) c.2089G>A (p.Ala697Thr) c.1816G>A (p.Ala606Thr) c.2140G>A (p.Ala714Thr) c.2050G>A (p.Ala684Thr) c.2041G>A (p.Ala681Thr) |