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 |
|---|---|---|---|---|---|
| 8 | g.132963046G>A | CA463012100 | TG | c.5520G>A (p.Val1840=) c.53G>A c.886G>A c.2175G>A c.5328G>A (p.Val1776=) c.5454G>A (p.Val1818=) c.5349G>A (p.Val1783=) c.5301G>A (p.Val1767=) c.5259G>A (p.Val1753=) | |
| 8 | g.132963046G>C | CA463012097 | TG | c.5520G>C (p.Val1840=) c.53G>C c.886G>C c.2175G>C c.5328G>C (p.Val1776=) c.5454G>C (p.Val1818=) c.5349G>C (p.Val1783=) c.5301G>C (p.Val1767=) c.5259G>C (p.Val1753=) | |
| 8 | g.132963046G>T | CA463012099 | TG | c.5520G>T (p.Val1840=) c.53G>T c.886G>T c.2175G>T c.5328G>T (p.Val1776=) c.5454G>T (p.Val1818=) c.5349G>T (p.Val1783=) c.5301G>T (p.Val1767=) c.5259G>T (p.Val1753=) | |
| 8 | g.132963047C>A | CA372231462 | TG | c.5521C>A (p.Pro1841Thr) c.54C>A c.887C>A c.2176C>A c.5329C>A (p.Pro1777Thr) c.5455C>A (p.Pro1819Thr) c.5350C>A (p.Pro1784Thr) c.5302C>A (p.Pro1768Thr) c.5260C>A (p.Pro1754Thr) | |
| 8 | g.132963047C= | CA1821029270 | TG | c.5521C= (p.Pro1841=) c.54C= c.887C= c.2176C= c.5329C= (p.Pro1777=) c.5455C= (p.Pro1819=) c.5350C= (p.Pro1784=) c.5302C= (p.Pro1768=) c.5260C= (p.Pro1754=) | |
| 8 | g.132963047C>G | CA372231463 | TG | c.5521C>G (p.Pro1841Ala) c.54C>G c.887C>G c.2176C>G c.5329C>G (p.Pro1777Ala) c.5455C>G (p.Pro1819Ala) c.5350C>G (p.Pro1784Ala) c.5302C>G (p.Pro1768Ala) c.5260C>G (p.Pro1754Ala) | |
| 8 | g.132963047C>T | CA4884540 | TG | c.5521C>T (p.Pro1841Ser) c.54C>T c.887C>T c.2176C>T c.5329C>T (p.Pro1777Ser) c.5455C>T (p.Pro1819Ser) c.5350C>T (p.Pro1784Ser) c.5302C>T (p.Pro1768Ser) c.5260C>T (p.Pro1754Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132963048C>A | CA372231467 | TG | c.5522C>A (p.Pro1841Gln) c.55C>A c.888C>A c.2177C>A c.5330C>A (p.Pro1777Gln) c.5456C>A (p.Pro1819Gln) c.5351C>A (p.Pro1784Gln) c.5303C>A (p.Pro1768Gln) c.5261C>A (p.Pro1754Gln) | |
| 8 | g.132963048C>G | CA372231470 | TG | c.5522C>G (p.Pro1841Arg) c.55C>G c.888C>G c.2177C>G c.5330C>G (p.Pro1777Arg) c.5456C>G (p.Pro1819Arg) c.5351C>G (p.Pro1784Arg) c.5303C>G (p.Pro1768Arg) c.5261C>G (p.Pro1754Arg) | |
| 8 | g.132963048C>T | CA372231472 | TG | c.5522C>T (p.Pro1841Leu) c.55C>T c.888C>T c.2177C>T c.5330C>T (p.Pro1777Leu) c.5456C>T (p.Pro1819Leu) c.5351C>T (p.Pro1784Leu) c.5303C>T (p.Pro1768Leu) c.5261C>T (p.Pro1754Leu) | gnomAD v4 |
| 8 | g.132963049A= | CA1821029271 | TG | c.5523A= (p.Pro1841=) c.56A= c.889A= c.2178A= c.5331A= (p.Pro1777=) c.5457A= (p.Pro1819=) c.5352A= (p.Pro1784=) c.5304A= (p.Pro1768=) c.5262A= (p.Pro1754=) | |
| 8 | g.132963049A>C | CA463012104 | TG | c.5523A>C (p.Pro1841=) c.56A>C c.889A>C c.2178A>C c.5331A>C (p.Pro1777=) c.5457A>C (p.Pro1819=) c.5352A>C (p.Pro1784=) c.5304A>C (p.Pro1768=) c.5262A>C (p.Pro1754=) | |
| 8 | g.132963049A>G | CA463012105 | TG | c.5523A>G (p.Pro1841=) c.56A>G c.889A>G c.2178A>G c.5331A>G (p.Pro1777=) c.5457A>G (p.Pro1819=) c.5352A>G (p.Pro1784=) c.5304A>G (p.Pro1768=) c.5262A>G (p.Pro1754=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132963049A>T | CA463012106 | TG | c.5523A>T (p.Pro1841=) c.56A>T c.889A>T c.2178A>T c.5331A>T (p.Pro1777=) c.5457A>T (p.Pro1819=) c.5352A>T (p.Pro1784=) c.5304A>T (p.Pro1768=) c.5262A>T (p.Pro1754=) | |
| 8 | g.132963050A= | CA1821029272 | TG | c.5524A= (p.Arg1842=) c.57A= c.890A= c.2179A= c.5332A= (p.Arg1778=) c.5458A= (p.Arg1820=) c.5353A= (p.Arg1785=) c.5305A= (p.Arg1769=) c.5263A= (p.Arg1755=) | |
| 8 | g.132963050A>C | CA463012107 | TG | c.5524A>C (p.Arg1842=) c.57A>C c.890A>C c.2179A>C c.5332A>C (p.Arg1778=) c.5458A>C (p.Arg1820=) c.5353A>C (p.Arg1785=) c.5305A>C (p.Arg1769=) c.5263A>C (p.Arg1755=) | |
| 8 | g.132963050A>G | CA372231475 | TG | c.5524A>G (p.Arg1842Gly) c.57A>G c.890A>G c.2179A>G c.5332A>G (p.Arg1778Gly) c.5458A>G (p.Arg1820Gly) c.5353A>G (p.Arg1785Gly) c.5305A>G (p.Arg1769Gly) c.5263A>G (p.Arg1755Gly) | dbSNP gnomAD v2 |
| 8 | g.132963050A>T | CA372231478 | TG | c.5524A>T (p.Arg1842Trp) c.57A>T c.890A>T c.2179A>T c.5332A>T (p.Arg1778Trp) c.5458A>T (p.Arg1820Trp) c.5353A>T (p.Arg1785Trp) c.5305A>T (p.Arg1769Trp) c.5263A>T (p.Arg1755Trp) | |
| 8 | g.132963051G>A | CA372231488 | TG | c.5525G>A (p.Arg1842Lys) c.58G>A c.891G>A c.2180G>A c.5333G>A (p.Arg1778Lys) c.5459G>A (p.Arg1820Lys) c.5354G>A (p.Arg1785Lys) c.5306G>A (p.Arg1769Lys) c.5264G>A (p.Arg1755Lys) | |
| 8 | g.132963051G>C | CA372231486 | TG | c.5525G>C (p.Arg1842Thr) c.58G>C c.891G>C c.2180G>C c.5333G>C (p.Arg1778Thr) c.5459G>C (p.Arg1820Thr) c.5354G>C (p.Arg1785Thr) c.5306G>C (p.Arg1769Thr) c.5264G>C (p.Arg1755Thr) | |
| 8 | g.132963051G>T | CA372231483 | TG | c.5525G>T (p.Arg1842Met) c.58G>T c.891G>T c.2180G>T c.5333G>T (p.Arg1778Met) c.5459G>T (p.Arg1820Met) c.5354G>T (p.Arg1785Met) c.5306G>T (p.Arg1769Met) c.5264G>T (p.Arg1755Met) | |
| 8 | g.132963052G>A | CA463012112 | TG | c.5526G>A (p.Arg1842=) c.59G>A c.892G>A c.2181G>A c.5334G>A (p.Arg1778=) c.5460G>A (p.Arg1820=) c.5355G>A (p.Arg1785=) c.5307G>A (p.Arg1769=) c.5265G>A (p.Arg1755=) | gnomAD v4 |
| 8 | g.132963052G>C | CA4884541 | TG | c.5526G>C (p.Arg1842Ser) c.59G>C c.892G>C c.2181G>C c.5334G>C (p.Arg1778Ser) c.5460G>C (p.Arg1820Ser) c.5355G>C (p.Arg1785Ser) c.5307G>C (p.Arg1769Ser) c.5265G>C (p.Arg1755Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132963052G= | CA1821029273 | TG | c.5526G= (p.Arg1842=) c.59G= c.892G= c.2181G= c.5334G= (p.Arg1778=) c.5460G= (p.Arg1820=) c.5355G= (p.Arg1785=) c.5307G= (p.Arg1769=) c.5265G= (p.Arg1755=) | |
| 8 | g.132963052G>T | CA372231490 | TG | c.5526G>T (p.Arg1842Ser) c.59G>T c.892G>T c.2181G>T c.5334G>T (p.Arg1778Ser) c.5460G>T (p.Arg1820Ser) c.5355G>T (p.Arg1785Ser) c.5307G>T (p.Arg1769Ser) c.5265G>T (p.Arg1755Ser) | |
| 8 | g.132963053C>A | CA372231491 | TG | c.5527C>A (p.Pro1843Thr) c.60C>A c.893C>A c.2182C>A c.5335C>A (p.Pro1779Thr) c.5461C>A (p.Pro1821Thr) c.5356C>A (p.Pro1786Thr) c.5308C>A (p.Pro1770Thr) c.5266C>A (p.Pro1756Thr) | |
| 8 | g.132963053C>G | CA372231492 | TG | c.5527C>G (p.Pro1843Ala) c.60C>G c.893C>G c.2182C>G c.5335C>G (p.Pro1779Ala) c.5461C>G (p.Pro1821Ala) c.5356C>G (p.Pro1786Ala) c.5308C>G (p.Pro1770Ala) c.5266C>G (p.Pro1756Ala) | |
| 8 | g.132963053C>T | CA372231493 | TG | c.5527C>T (p.Pro1843Ser) c.60C>T c.893C>T c.2182C>T c.5335C>T (p.Pro1779Ser) c.5461C>T (p.Pro1821Ser) c.5356C>T (p.Pro1786Ser) c.5308C>T (p.Pro1770Ser) c.5266C>T (p.Pro1756Ser) | |
| 8 | g.132963054C>A | CA372231494 | TG | c.5528C>A (p.Pro1843Gln) c.61C>A c.894C>A c.2183C>A c.5336C>A (p.Pro1779Gln) c.5462C>A (p.Pro1821Gln) c.5357C>A (p.Pro1786Gln) c.5309C>A (p.Pro1770Gln) c.5267C>A (p.Pro1756Gln) | |
| 8 | g.132963054C= | CA1821029274 | TG | c.5528C= (p.Pro1843=) c.61C= c.894C= c.2183C= c.5336C= (p.Pro1779=) c.5462C= (p.Pro1821=) c.5357C= (p.Pro1786=) c.5309C= (p.Pro1770=) c.5267C= (p.Pro1756=) | |
| 8 | g.132963054C>G | CA4884542 | TG | c.5528C>G (p.Pro1843Arg) c.61C>G c.894C>G c.2183C>G c.5336C>G (p.Pro1779Arg) c.5462C>G (p.Pro1821Arg) c.5357C>G (p.Pro1786Arg) c.5309C>G (p.Pro1770Arg) c.5267C>G (p.Pro1756Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132963054C>T | CA372231495 | TG | c.5528C>T (p.Pro1843Leu) c.61C>T c.894C>T c.2183C>T c.5336C>T (p.Pro1779Leu) c.5462C>T (p.Pro1821Leu) c.5357C>T (p.Pro1786Leu) c.5309C>T (p.Pro1770Leu) c.5267C>T (p.Pro1756Leu) | |
| 8 | g.132963055A>C | CA463012115 | TG | c.5529A>C (p.Pro1843=) c.62A>C c.895A>C c.2184A>C c.5337A>C (p.Pro1779=) c.5463A>C (p.Pro1821=) c.5358A>C (p.Pro1786=) c.5310A>C (p.Pro1770=) c.5268A>C (p.Pro1756=) | |
| 8 | g.132963055A>G | CA463012116 | TG | c.5529A>G (p.Pro1843=) c.62A>G c.895A>G c.2184A>G c.5337A>G (p.Pro1779=) c.5463A>G (p.Pro1821=) c.5358A>G (p.Pro1786=) c.5310A>G (p.Pro1770=) c.5268A>G (p.Pro1756=) | gnomAD v4 |
| 8 | g.132963055A>T | CA463012117 | TG | c.5529A>T (p.Pro1843=) c.62A>T c.895A>T c.2184A>T c.5337A>T (p.Pro1779=) c.5463A>T (p.Pro1821=) c.5358A>T (p.Pro1786=) c.5310A>T (p.Pro1770=) c.5268A>T (p.Pro1756=) | |
| 8 | g.132963056G>A | CA372231496 | TG | c.5530G>A (p.Ala1844Thr) c.63G>A c.896G>A c.2185G>A c.5338G>A (p.Ala1780Thr) c.5464G>A (p.Ala1822Thr) c.5359G>A (p.Ala1787Thr) c.5311G>A (p.Ala1771Thr) c.5269G>A (p.Ala1757Thr) | gnomAD v4 |
| 8 | g.132963056G>C | CA372231497 | TG | c.5530G>C (p.Ala1844Pro) c.63G>C c.896G>C c.2185G>C c.5338G>C (p.Ala1780Pro) c.5464G>C (p.Ala1822Pro) c.5359G>C (p.Ala1787Pro) c.5311G>C (p.Ala1771Pro) c.5269G>C (p.Ala1757Pro) | gnomAD v4 |
| 8 | g.132963056G= | CA1821029275 | TG | c.5530G= (p.Ala1844=) c.63G= c.896G= c.2185G= c.5338G= (p.Ala1780=) c.5464G= (p.Ala1822=) c.5359G= (p.Ala1787=) c.5311G= (p.Ala1771=) c.5269G= (p.Ala1757=) | |
| 8 | g.132963056G>T | CA372231498 | TG | c.5530G>T (p.Ala1844Ser) c.63G>T c.896G>T c.2185G>T c.5338G>T (p.Ala1780Ser) c.5464G>T (p.Ala1822Ser) c.5359G>T (p.Ala1787Ser) c.5311G>T (p.Ala1771Ser) c.5269G>T (p.Ala1757Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132963056_132963057insGTGA | CA918371999 | TG | c.5530_5531insGTGA (p.Ala1844GlyfsTer?) c.63_64insGTGA c.896_897insGTGA c.2185_2186insGTGA c.5338_5339insGTGA (p.Ala1780GlyfsTer?) c.5464_5465insGTGA (p.Ala1822GlyfsTer?) c.5359_5360insGTGA (p.Ala1787GlyfsTer?) c.5311_5312insGTGA (p.Ala1771GlyfsTer?) c.5269_5270insGTGA (p.Ala1757GlyfsTer?) | dbSNP |
| 8 | g.132963057C>A | CA372231502 | TG | c.5531C>A (p.Ala1844Glu) c.64C>A c.897C>A c.2186C>A c.5339C>A (p.Ala1780Glu) c.5465C>A (p.Ala1822Glu) c.5360C>A (p.Ala1787Glu) c.5312C>A (p.Ala1771Glu) c.5270C>A (p.Ala1757Glu) | |
| 8 | g.132963057C>G | CA372231501 | TG | c.5531C>G (p.Ala1844Gly) c.64C>G c.897C>G c.2186C>G c.5339C>G (p.Ala1780Gly) c.5465C>G (p.Ala1822Gly) c.5360C>G (p.Ala1787Gly) c.5312C>G (p.Ala1771Gly) c.5270C>G (p.Ala1757Gly) | |
| 8 | g.132963057C>T | CA372231499 | TG | c.5531C>T (p.Ala1844Val) c.64C>T c.897C>T c.2186C>T c.5339C>T (p.Ala1780Val) c.5465C>T (p.Ala1822Val) c.5360C>T (p.Ala1787Val) c.5312C>T (p.Ala1771Val) c.5270C>T (p.Ala1757Val) | |
| 8 | g.132963058A= | CA1821029276 | TG | c.5532A= (p.Ala1844=) c.65A= c.898A= c.2187A= c.5340A= (p.Ala1780=) c.5466A= (p.Ala1822=) c.5361A= (p.Ala1787=) c.5313A= (p.Ala1771=) c.5271A= (p.Ala1757=) | |
| 8 | g.132963058A>C | CA463012119 | TG | c.5532A>C (p.Ala1844=) c.65A>C c.898A>C c.2187A>C c.5340A>C (p.Ala1780=) c.5466A>C (p.Ala1822=) c.5361A>C (p.Ala1787=) c.5313A>C (p.Ala1771=) c.5271A>C (p.Ala1757=) | |
| 8 | g.132963058A>G | CA463012120 | TG | c.5532A>G (p.Ala1844=) c.65A>G c.898A>G c.2187A>G c.5340A>G (p.Ala1780=) c.5466A>G (p.Ala1822=) c.5361A>G (p.Ala1787=) c.5313A>G (p.Ala1771=) c.5271A>G (p.Ala1757=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132963058A>T | CA463012121 | TG | c.5532A>T (p.Ala1844=) c.65A>T c.898A>T c.2187A>T c.5340A>T (p.Ala1780=) c.5466A>T (p.Ala1822=) c.5361A>T (p.Ala1787=) c.5313A>T (p.Ala1771=) c.5271A>T (p.Ala1757=) | dbSNP |
| 8 | g.132963059T>A | CA372231506 | TG | c.5533T>A (p.Ser1845Thr) c.66T>A c.899T>A c.2188T>A c.5341T>A (p.Ser1781Thr) c.5467T>A (p.Ser1823Thr) c.5362T>A (p.Ser1788Thr) c.5314T>A (p.Ser1772Thr) c.5272T>A (p.Ser1758Thr) | |
| 8 | g.132963059T>C | CA372231516 | TG | c.5533T>C (p.Ser1845Pro) c.66T>C c.899T>C c.2188T>C c.5341T>C (p.Ser1781Pro) c.5467T>C (p.Ser1823Pro) c.5362T>C (p.Ser1788Pro) c.5314T>C (p.Ser1772Pro) c.5272T>C (p.Ser1758Pro) | |
| 8 | g.132963059T>G | CA372231512 | TG | c.5533T>G (p.Ser1845Ala) c.66T>G c.899T>G c.2188T>G c.5341T>G (p.Ser1781Ala) c.5467T>G (p.Ser1823Ala) c.5362T>G (p.Ser1788Ala) c.5314T>G (p.Ser1772Ala) c.5272T>G (p.Ser1758Ala) | |
| 8 | g.132963060C>A | CA372231519 | TG | c.5534C>A (p.Ser1845Tyr) c.67C>A c.900C>A c.2189C>A c.5342C>A (p.Ser1781Tyr) c.5468C>A (p.Ser1823Tyr) c.5363C>A (p.Ser1788Tyr) c.5315C>A (p.Ser1772Tyr) c.5273C>A (p.Ser1758Tyr) | |
| 8 | g.132963060C>G | CA372231521 | TG | c.5534C>G (p.Ser1845Cys) c.67C>G c.900C>G c.2189C>G c.5342C>G (p.Ser1781Cys) c.5468C>G (p.Ser1823Cys) c.5363C>G (p.Ser1788Cys) c.5315C>G (p.Ser1772Cys) c.5273C>G (p.Ser1758Cys) | |
| 8 | g.132963060C>T | CA372231522 | TG | c.5534C>T (p.Ser1845Phe) c.67C>T c.900C>T c.2189C>T c.5342C>T (p.Ser1781Phe) c.5468C>T (p.Ser1823Phe) c.5363C>T (p.Ser1788Phe) c.5315C>T (p.Ser1772Phe) c.5273C>T (p.Ser1758Phe) | gnomAD v4 |
| 8 | g.132963061T>A | CA463012126 | TG | c.5535T>A (p.Ser1845=) c.68T>A c.901T>A c.2190T>A c.5343T>A (p.Ser1781=) c.5469T>A (p.Ser1823=) c.5364T>A (p.Ser1788=) c.5316T>A (p.Ser1772=) c.5274T>A (p.Ser1758=) | dbSNP |
| 8 | g.132963061T>C | CA463012127 | TG | c.5535T>C (p.Ser1845=) c.68T>C c.901T>C c.2190T>C c.5343T>C (p.Ser1781=) c.5469T>C (p.Ser1823=) c.5364T>C (p.Ser1788=) c.5316T>C (p.Ser1772=) c.5274T>C (p.Ser1758=) | |
| 8 | g.132963061T>G | CA463012125 | TG | c.5535T>G (p.Ser1845=) c.68T>G c.901T>G c.2190T>G c.5343T>G (p.Ser1781=) c.5469T>G (p.Ser1823=) c.5364T>G (p.Ser1788=) c.5316T>G (p.Ser1772=) c.5274T>G (p.Ser1758=) | |
| 8 | g.132963061T= | CA1821029277 | TG | c.5535T= (p.Ser1845=) c.68T= c.901T= c.2190T= c.5343T= (p.Ser1781=) c.5469T= (p.Ser1823=) c.5364T= (p.Ser1788=) c.5316T= (p.Ser1772=) c.5274T= (p.Ser1758=) | |
| 8 | g.132963062C>A | CA372231524 | TG | c.5536C>A (p.Pro1846Thr) c.69C>A c.902C>A c.2191C>A c.5344C>A (p.Pro1782Thr) c.5470C>A (p.Pro1824Thr) c.5365C>A (p.Pro1789Thr) c.5317C>A (p.Pro1773Thr) c.5275C>A (p.Pro1759Thr) | |
| 8 | g.132963062C= | CA1821029278 | TG | c.5536C= (p.Pro1846=) c.69C= c.902C= c.2191C= c.5344C= (p.Pro1782=) c.5470C= (p.Pro1824=) c.5365C= (p.Pro1789=) c.5317C= (p.Pro1773=) c.5275C= (p.Pro1759=) | |
| 8 | g.132963062C>G | CA372231526 | TG | c.5536C>G (p.Pro1846Ala) c.69C>G c.902C>G c.2191C>G c.5344C>G (p.Pro1782Ala) c.5470C>G (p.Pro1824Ala) c.5365C>G (p.Pro1789Ala) c.5317C>G (p.Pro1773Ala) c.5275C>G (p.Pro1759Ala) | |
| 8 | g.132963062C>T | CA4884543 | TG | c.5536C>T (p.Pro1846Ser) c.69C>T c.902C>T c.2191C>T c.5344C>T (p.Pro1782Ser) c.5470C>T (p.Pro1824Ser) c.5365C>T (p.Pro1789Ser) c.5317C>T (p.Pro1773Ser) c.5275C>T (p.Pro1759Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132963063C>A | CA372231529 | TG | c.5537C>A (p.Pro1846Gln) c.70C>A c.903C>A c.2192C>A c.5345C>A (p.Pro1782Gln) c.5471C>A (p.Pro1824Gln) c.5366C>A (p.Pro1789Gln) c.5318C>A (p.Pro1773Gln) c.5276C>A (p.Pro1759Gln) | |
| 8 | g.132963063C>G | CA372231530 | TG | c.5537C>G (p.Pro1846Arg) c.70C>G c.903C>G c.2192C>G c.5345C>G (p.Pro1782Arg) c.5471C>G (p.Pro1824Arg) c.5366C>G (p.Pro1789Arg) c.5318C>G (p.Pro1773Arg) c.5276C>G (p.Pro1759Arg) | |
| 8 | g.132963063C>T | CA372231531 | TG | c.5537C>T (p.Pro1846Leu) c.70C>T c.903C>T c.2192C>T c.5345C>T (p.Pro1782Leu) c.5471C>T (p.Pro1824Leu) c.5366C>T (p.Pro1789Leu) c.5318C>T (p.Pro1773Leu) c.5276C>T (p.Pro1759Leu) | |
| 8 | g.132963064A>C | CA463012133 | TG | c.5538A>C (p.Pro1846=) c.71A>C c.904A>C c.2193A>C c.5346A>C (p.Pro1782=) c.5472A>C (p.Pro1824=) c.5367A>C (p.Pro1789=) c.5319A>C (p.Pro1773=) c.5277A>C (p.Pro1759=) | |
| 8 | g.132963064A>G | CA463012131 | TG | c.5538A>G (p.Pro1846=) c.71A>G c.904A>G c.2193A>G c.5346A>G (p.Pro1782=) c.5472A>G (p.Pro1824=) c.5367A>G (p.Pro1789=) c.5319A>G (p.Pro1773=) c.5277A>G (p.Pro1759=) | |
| 8 | g.132963064A>T | CA463012132 | TG | c.5538A>T (p.Pro1846=) c.71A>T c.904A>T c.2193A>T c.5346A>T (p.Pro1782=) c.5472A>T (p.Pro1824=) c.5367A>T (p.Pro1789=) c.5319A>T (p.Pro1773=) c.5277A>T (p.Pro1759=) | |
| 8 | g.132963065A>C | CA372231532 | TG | c.5539A>C (p.Thr1847Pro) c.72A>C c.905A>C c.2194A>C c.5347A>C (p.Thr1783Pro) c.5473A>C (p.Thr1825Pro) c.5368A>C (p.Thr1790Pro) c.5320A>C (p.Thr1774Pro) c.5278A>C (p.Thr1760Pro) | |
| 8 | g.132963065A>G | CA372231535 | TG | c.5539A>G (p.Thr1847Ala) c.72A>G c.905A>G c.2194A>G c.5347A>G (p.Thr1783Ala) c.5473A>G (p.Thr1825Ala) c.5368A>G (p.Thr1790Ala) c.5320A>G (p.Thr1774Ala) c.5278A>G (p.Thr1760Ala) | |
| 8 | g.132963065A>T | CA372231542 | TG | c.5539A>T (p.Thr1847Ser) c.72A>T c.905A>T c.2194A>T c.5347A>T (p.Thr1783Ser) c.5473A>T (p.Thr1825Ser) c.5368A>T (p.Thr1790Ser) c.5320A>T (p.Thr1774Ser) c.5278A>T (p.Thr1760Ser) | |
| 8 | g.132963066C>A | CA372231545 | TG | c.5540C>A (p.Thr1847Lys) c.73C>A c.906C>A c.2195C>A c.5348C>A (p.Thr1783Lys) c.5474C>A (p.Thr1825Lys) c.5369C>A (p.Thr1790Lys) c.5321C>A (p.Thr1774Lys) c.5279C>A (p.Thr1760Lys) | dbSNP gnomAD v4 |
| 8 | g.132963066C= | CA1821029279 | TG | c.5540C= (p.Thr1847=) c.73C= c.906C= c.2195C= c.5348C= (p.Thr1783=) c.5474C= (p.Thr1825=) c.5369C= (p.Thr1790=) c.5321C= (p.Thr1774=) c.5279C= (p.Thr1760=) | |
| 8 | g.132963066C>G | CA372231550 | TG | c.5540C>G (p.Thr1847Arg) c.73C>G c.906C>G c.2195C>G c.5348C>G (p.Thr1783Arg) c.5474C>G (p.Thr1825Arg) c.5369C>G (p.Thr1790Arg) c.5321C>G (p.Thr1774Arg) c.5279C>G (p.Thr1760Arg) | |
| 8 | g.132963066C>T | CA372231549 | TG | c.5540C>T (p.Thr1847Ile) c.73C>T c.906C>T c.2195C>T c.5348C>T (p.Thr1783Ile) c.5474C>T (p.Thr1825Ile) c.5369C>T (p.Thr1790Ile) c.5321C>T (p.Thr1774Ile) c.5279C>T (p.Thr1760Ile) | |
| 8 | g.132963067A= | CA1821029280 | TG | c.5541A= (p.Thr1847=) c.74A= c.907A= c.2196A= c.5349A= (p.Thr1783=) c.5475A= (p.Thr1825=) c.5370A= (p.Thr1790=) c.5322A= (p.Thr1774=) c.5280A= (p.Thr1760=) | |
| 8 | g.132963067A>C | CA463012135 | TG | c.5541A>C (p.Thr1847=) c.74A>C c.907A>C c.2196A>C c.5349A>C (p.Thr1783=) c.5475A>C (p.Thr1825=) c.5370A>C (p.Thr1790=) c.5322A>C (p.Thr1774=) c.5280A>C (p.Thr1760=) | |
| 8 | g.132963067A>G | CA463012137 | TG | c.5541A>G (p.Thr1847=) c.74A>G c.907A>G c.2196A>G c.5349A>G (p.Thr1783=) c.5475A>G (p.Thr1825=) c.5370A>G (p.Thr1790=) c.5322A>G (p.Thr1774=) c.5280A>G (p.Thr1760=) | |
| 8 | g.132963067A>T | CA4884544 | TG | c.5541A>T (p.Thr1847=) c.74A>T c.907A>T c.2196A>T c.5349A>T (p.Thr1783=) c.5475A>T (p.Thr1825=) c.5370A>T (p.Thr1790=) c.5322A>T (p.Thr1774=) c.5280A>T (p.Thr1760=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132963068G>A | CA372231553 | TG | c.5542G>A (p.Glu1848Lys) c.75G>A c.908G>A c.2197G>A c.5350G>A (p.Glu1784Lys) c.5476G>A (p.Glu1826Lys) c.5371G>A (p.Glu1791Lys) c.5323G>A (p.Glu1775Lys) c.5281G>A (p.Glu1761Lys) | |
| 8 | g.132963068G>C | CA372231555 | TG | c.5542G>C (p.Glu1848Gln) c.75G>C c.908G>C c.2197G>C c.5350G>C (p.Glu1784Gln) c.5476G>C (p.Glu1826Gln) c.5371G>C (p.Glu1791Gln) c.5323G>C (p.Glu1775Gln) c.5281G>C (p.Glu1761Gln) | |
| 8 | g.132963068G>T | CA372231557 | TG | c.5542G>T (p.Glu1848Ter) c.75G>T c.908G>T c.2197G>T c.5350G>T (p.Glu1784Ter) c.5476G>T (p.Glu1826Ter) c.5371G>T (p.Glu1791Ter) c.5323G>T (p.Glu1775Ter) c.5281G>T (p.Glu1761Ter) | |
| 8 | g.132963069A>C | CA372231559 | TG | c.5543A>C (p.Glu1848Ala) c.76A>C c.909A>C c.2198A>C c.5351A>C (p.Glu1784Ala) c.5477A>C (p.Glu1826Ala) c.5372A>C (p.Glu1791Ala) c.5324A>C (p.Glu1775Ala) c.5282A>C (p.Glu1761Ala) | |
| 8 | g.132963069A>G | CA372231561 | TG | c.5543A>G (p.Glu1848Gly) c.76A>G c.909A>G c.2198A>G c.5351A>G (p.Glu1784Gly) c.5477A>G (p.Glu1826Gly) c.5372A>G (p.Glu1791Gly) c.5324A>G (p.Glu1775Gly) c.5282A>G (p.Glu1761Gly) | |
| 8 | g.132963069A>T | CA372231563 | TG | c.5543A>T (p.Glu1848Val) c.76A>T c.909A>T c.2198A>T c.5351A>T (p.Glu1784Val) c.5477A>T (p.Glu1826Val) c.5372A>T (p.Glu1791Val) c.5324A>T (p.Glu1775Val) c.5282A>T (p.Glu1761Val) | |
| 8 | g.132963070A>C | CA372231565 | TG | c.5544A>C (p.Glu1848Asp) c.77A>C c.910A>C c.2199A>C c.5352A>C (p.Glu1784Asp) c.5478A>C (p.Glu1826Asp) c.5373A>C (p.Glu1791Asp) c.5325A>C (p.Glu1775Asp) c.5283A>C (p.Glu1761Asp) | |
| 8 | g.132963070A>G | CA463012138 | TG | c.5544A>G (p.Glu1848=) c.77A>G c.910A>G c.2199A>G c.5352A>G (p.Glu1784=) c.5478A>G (p.Glu1826=) c.5373A>G (p.Glu1791=) c.5325A>G (p.Glu1775=) c.5283A>G (p.Glu1761=) | |
| 8 | g.132963070A>T | CA372231566 | TG | c.5544A>T (p.Glu1848Asp) c.77A>T c.910A>T c.2199A>T c.5352A>T (p.Glu1784Asp) c.5478A>T (p.Glu1826Asp) c.5373A>T (p.Glu1791Asp) c.5325A>T (p.Glu1775Asp) c.5283A>T (p.Glu1761Asp) | |
| 8 | g.132963071G>A | CA372231570 | TG | c.5545G>A (p.Ala1849Thr) c.78G>A c.911G>A c.2200G>A c.5353G>A (p.Ala1785Thr) c.5479G>A (p.Ala1827Thr) c.5374G>A (p.Ala1792Thr) c.5326G>A (p.Ala1776Thr) c.5284G>A (p.Ala1762Thr) | |
| 8 | g.132963071G>C | CA372231572 | TG | c.5545G>C (p.Ala1849Pro) c.78G>C c.911G>C c.2200G>C c.5353G>C (p.Ala1785Pro) c.5479G>C (p.Ala1827Pro) c.5374G>C (p.Ala1792Pro) c.5326G>C (p.Ala1776Pro) c.5284G>C (p.Ala1762Pro) | |
| 8 | g.132963071G>T | CA372231569 | TG | c.5545G>T (p.Ala1849Ser) c.78G>T c.911G>T c.2200G>T c.5353G>T (p.Ala1785Ser) c.5479G>T (p.Ala1827Ser) c.5374G>T (p.Ala1792Ser) c.5326G>T (p.Ala1776Ser) c.5284G>T (p.Ala1762Ser) | |
| 8 | g.132963071_132963072insATACTGAC | CA2688652481 | TG | c.5545_5546insATACTGAC (p.Ala1849AspfsTer6) c.78_79insATACTGAC c.911_912insATACTGAC c.2200_2201insATACTGAC c.5353_5354insATACTGAC (p.Ala1785AspfsTer6) c.5479_5480insATACTGAC (p.Ala1827AspfsTer6) c.5374_5375insATACTGAC (p.Ala1792AspfsTer6) c.5326_5327insATACTGAC (p.Ala1776AspfsTer6) c.5284_5285insATACTGAC (p.Ala1762AspfsTer6) | gnomAD v4 |
| 8 | g.132963072C>A | CA372231574 | TG | c.5546C>A (p.Ala1849Glu) c.79C>A c.912C>A c.2201C>A c.5354C>A (p.Ala1785Glu) c.5480C>A (p.Ala1827Glu) c.5375C>A (p.Ala1792Glu) c.5327C>A (p.Ala1776Glu) c.5285C>A (p.Ala1762Glu) | |
| 8 | g.132963072C>G | CA372231576 | TG | c.5546C>G (p.Ala1849Gly) c.79C>G c.912C>G c.2201C>G c.5354C>G (p.Ala1785Gly) c.5480C>G (p.Ala1827Gly) c.5375C>G (p.Ala1792Gly) c.5327C>G (p.Ala1776Gly) c.5285C>G (p.Ala1762Gly) | gnomAD v4 |
| 8 | g.132963072C>T | CA372231578 | TG | c.5546C>T (p.Ala1849Val) c.79C>T c.912C>T c.2201C>T c.5354C>T (p.Ala1785Val) c.5480C>T (p.Ala1827Val) c.5375C>T (p.Ala1792Val) c.5327C>T (p.Ala1776Val) c.5285C>T (p.Ala1762Val) | |
| 8 | g.132963073A>C | CA463012141 | TG | c.5547A>C (p.Ala1849=) c.80A>C c.913A>C c.2202A>C c.5355A>C (p.Ala1785=) c.5481A>C (p.Ala1827=) c.5376A>C (p.Ala1792=) c.5328A>C (p.Ala1776=) c.5286A>C (p.Ala1762=) | |
| 8 | g.132963073A>G | CA463012142 | TG | c.5547A>G (p.Ala1849=) c.80A>G c.913A>G c.2202A>G c.5355A>G (p.Ala1785=) c.5481A>G (p.Ala1827=) c.5376A>G (p.Ala1792=) c.5328A>G (p.Ala1776=) c.5286A>G (p.Ala1762=) | |
| 8 | g.132963073A>T | CA463012143 | TG | c.5547A>T (p.Ala1849=) c.80A>T c.913A>T c.2202A>T c.5355A>T (p.Ala1785=) c.5481A>T (p.Ala1827=) c.5376A>T (p.Ala1792=) c.5328A>T (p.Ala1776=) c.5286A>T (p.Ala1762=) | |
| 8 | g.132963074G>A | CA372231579 | TG | c.5548G>A (p.Gly1850Ser) c.81G>A c.914G>A c.2203G>A c.5356G>A (p.Gly1786Ser) c.5482G>A (p.Gly1828Ser) c.5377G>A (p.Gly1793Ser) c.5329G>A (p.Gly1777Ser) c.5287G>A (p.Gly1763Ser) | |
| 8 | g.132963074G>C | CA372231581 | TG | c.5548G>C (p.Gly1850Arg) c.81G>C c.914G>C c.2203G>C c.5356G>C (p.Gly1786Arg) c.5482G>C (p.Gly1828Arg) c.5377G>C (p.Gly1793Arg) c.5329G>C (p.Gly1777Arg) c.5287G>C (p.Gly1763Arg) | |
| 8 | g.132963074G>T | CA372231583 | TG | c.5548G>T (p.Gly1850Cys) c.81G>T c.914G>T c.2203G>T c.5356G>T (p.Gly1786Cys) c.5482G>T (p.Gly1828Cys) c.5377G>T (p.Gly1793Cys) c.5329G>T (p.Gly1777Cys) c.5287G>T (p.Gly1763Cys) | |
| 8 | g.132963075G>A | CA372231585 | TG | c.5548+1G>A (n.5548+1G>A) c.81+1G>A c.914+1G>A c.2203+1G>A c.5356+1G>A (n.5356+1G>A) c.5482+1G>A (n.5482+1G>A) c.5377+1G>A (n.5377+1G>A) c.5329+1G>A (n.5329+1G>A) c.5287+1G>A (n.5287+1G>A) | dbSNP gnomAD v4 |
| 8 | g.132963075G>C | CA372231590 | TG | c.5548+1G>C (n.5548+1G>C) c.81+1G>C c.914+1G>C c.2203+1G>C c.5356+1G>C (n.5356+1G>C) c.5482+1G>C (n.5482+1G>C) c.5377+1G>C (n.5377+1G>C) c.5329+1G>C (n.5329+1G>C) c.5287+1G>C (n.5287+1G>C) | |
| 8 | g.132963075G= | CA1821029281 | TG | c.5548+1G= (n.5548+1G=) c.81+1G= c.914+1G= c.2203+1G= c.5356+1G= (n.5356+1G=) c.5482+1G= (n.5482+1G=) c.5377+1G= (n.5377+1G=) c.5329+1G= (n.5329+1G=) c.5287+1G= (n.5287+1G=) | |
| 8 | g.132963075G>T | CA372231593 | TG | c.5548+1G>T (n.5548+1G>T) c.81+1G>T c.914+1G>T c.2203+1G>T c.5356+1G>T (n.5356+1G>T) c.5482+1G>T (n.5482+1G>T) c.5377+1G>T (n.5377+1G>T) c.5329+1G>T (n.5329+1G>T) c.5287+1G>T (n.5287+1G>T) | gnomAD v4 |
| 8 | g.132963076T>A | CA372231595 | TG | c.5548+2T>A (n.5548+2T>A) c.81+2T>A c.914+2T>A c.2203+2T>A c.5356+2T>A (n.5356+2T>A) c.5482+2T>A (n.5482+2T>A) c.5377+2T>A (n.5377+2T>A) c.5329+2T>A (n.5329+2T>A) c.5287+2T>A (n.5287+2T>A) | |
| 8 | g.132963076T>C | CA372231596 | TG | c.5548+2T>C (n.5548+2T>C) c.81+2T>C c.914+2T>C c.2203+2T>C c.5356+2T>C (n.5356+2T>C) c.5482+2T>C (n.5482+2T>C) c.5377+2T>C (n.5377+2T>C) c.5329+2T>C (n.5329+2T>C) c.5287+2T>C (n.5287+2T>C) | |
| 8 | g.132963076T>G | CA372231598 | TG | c.5548+2T>G (n.5548+2T>G) c.81+2T>G c.914+2T>G c.2203+2T>G c.5356+2T>G (n.5356+2T>G) c.5482+2T>G (n.5482+2T>G) c.5377+2T>G (n.5377+2T>G) c.5329+2T>G (n.5329+2T>G) c.5287+2T>G (n.5287+2T>G) | |
| 8 | g.132963077A= | CA1821029282 | TG | c.5548+3A= (n.5548+3A=) c.81+3A= c.914+3A= c.2203+3A= c.5356+3A= (n.5356+3A=) c.5482+3A= (n.5482+3A=) c.5377+3A= (n.5377+3A=) c.5329+3A= (n.5329+3A=) c.5287+3A= (n.5287+3A=) | |
| 8 | g.132963077A>G | CA1119386699 | TG | c.5548+3A>G (n.5548+3A>G) c.81+3A>G c.914+3A>G c.2203+3A>G c.5356+3A>G (n.5356+3A>G) c.5482+3A>G (n.5482+3A>G) c.5377+3A>G (n.5377+3A>G) c.5329+3A>G (n.5329+3A>G) c.5287+3A>G (n.5287+3A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132963078C= | CA1821029283 | TG | c.5548+4C= (n.5548+4C=) c.81+4C= c.914+4C= c.2203+4C= c.5356+4C= (n.5356+4C=) c.5482+4C= (n.5482+4C=) c.5377+4C= (n.5377+4C=) c.5329+4C= (n.5329+4C=) c.5287+4C= (n.5287+4C=) | |
| 8 | g.132963078C>G | CA847717228 | TG | c.5548+4C>G (n.5548+4C>G) c.81+4C>G c.914+4C>G c.2203+4C>G c.5356+4C>G (n.5356+4C>G) c.5482+4C>G (n.5482+4C>G) c.5377+4C>G (n.5377+4C>G) c.5329+4C>G (n.5329+4C>G) c.5287+4C>G (n.5287+4C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132963081A= | CA1821029284 | TG | c.5548+7A= (n.5548+7A=) c.81+7A= c.914+7A= c.2203+7A= c.5356+7A= (n.5356+7A=) c.5482+7A= (n.5482+7A=) c.5377+7A= (n.5377+7A=) c.5329+7A= (n.5329+7A=) c.5287+7A= (n.5287+7A=) | |
| 8 | g.132963081A>C | CA4884545 | TG | c.5548+7A>C (n.5548+7A>C) c.81+7A>C c.914+7A>C c.2203+7A>C c.5356+7A>C (n.5356+7A>C) c.5482+7A>C (n.5482+7A>C) c.5377+7A>C (n.5377+7A>C) c.5329+7A>C (n.5329+7A>C) c.5287+7A>C (n.5287+7A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132963081A>G | CA2782272868 | TG | c.5548+7A>G (n.5548+7A>G) c.81+7A>G c.914+7A>G c.2203+7A>G c.5356+7A>G (n.5356+7A>G) c.5482+7A>G (n.5482+7A>G) c.5377+7A>G (n.5377+7A>G) c.5329+7A>G (n.5329+7A>G) c.5287+7A>G (n.5287+7A>G) | |
| 8 | g.132963082C>A | CA2688652483 | TG | c.5548+8C>A (n.5548+8C>A) c.81+8C>A c.914+8C>A c.2203+8C>A c.5356+8C>A (n.5356+8C>A) c.5482+8C>A (n.5482+8C>A) c.5377+8C>A (n.5377+8C>A) c.5329+8C>A (n.5329+8C>A) c.5287+8C>A (n.5287+8C>A) | gnomAD v4 |
| 8 | g.132963086del | CA2688652482 | TG | c.5548+12del (n.5548+12del) c.81+12del c.914+12del c.2203+12del c.5356+12del (n.5356+12del) c.5482+12del (n.5482+12del) c.5377+12del (n.5377+12del) c.5329+12del (n.5329+12del) c.5287+12del (n.5287+12del) | gnomAD v4 |
| 8 | g.132963083C= | CA1821029285 | TG | c.5548+9C= (n.5548+9C=) c.81+9C= c.914+9C= c.2203+9C= c.5356+9C= (n.5356+9C=) c.5482+9C= (n.5482+9C=) c.5377+9C= (n.5377+9C=) c.5329+9C= (n.5329+9C=) c.5287+9C= (n.5287+9C=) | |
| 8 | g.132963083C>T | CA4884546 | TG | c.5548+9C>T (n.5548+9C>T) c.81+9C>T c.914+9C>T c.2203+9C>T c.5356+9C>T (n.5356+9C>T) c.5482+9C>T (n.5482+9C>T) c.5377+9C>T (n.5377+9C>T) c.5329+9C>T (n.5329+9C>T) c.5287+9C>T (n.5287+9C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132963084C= | CA1821029286 | TG | c.5548+10C= (n.5548+10C=) c.81+10C= c.914+10C= c.2203+10C= c.5356+10C= (n.5356+10C=) c.5482+10C= (n.5482+10C=) c.5377+10C= (n.5377+10C=) c.5329+10C= (n.5329+10C=) c.5287+10C= (n.5287+10C=) | |
| 8 | g.132963084C>G | CA4884547 | TG | c.5548+10C>G (n.5548+10C>G) c.81+10C>G c.914+10C>G c.2203+10C>G c.5356+10C>G (n.5356+10C>G) c.5482+10C>G (n.5482+10C>G) c.5377+10C>G (n.5377+10C>G) c.5329+10C>G (n.5329+10C>G) c.5287+10C>G (n.5287+10C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132963085C= | CA1821029287 | TG | c.5548+11C= (n.5548+11C=) c.81+11C= c.914+11C= c.2203+11C= c.5356+11C= (n.5356+11C=) c.5482+11C= (n.5482+11C=) c.5377+11C= (n.5377+11C=) c.5329+11C= (n.5329+11C=) c.5287+11C= (n.5287+11C=) | |
| 8 | g.132963085C>G | CA2688652484 | TG | c.5548+11C>G (n.5548+11C>G) c.81+11C>G c.914+11C>G c.2203+11C>G c.5356+11C>G (n.5356+11C>G) c.5482+11C>G (n.5482+11C>G) c.5377+11C>G (n.5377+11C>G) c.5329+11C>G (n.5329+11C>G) c.5287+11C>G (n.5287+11C>G) | gnomAD v4 |
| 8 | g.132963085C>T | CA1821029288 | TG | c.5548+11C>T (n.5548+11C>T) c.81+11C>T c.914+11C>T c.2203+11C>T c.5356+11C>T (n.5356+11C>T) c.5482+11C>T (n.5482+11C>T) c.5377+11C>T (n.5377+11C>T) c.5329+11C>T (n.5329+11C>T) c.5287+11C>T (n.5287+11C>T) | dbSNP |
| 8 | g.132963086C>A | CA186288711 | TG | c.5548+12C>A (n.5548+12C>A) c.81+12C>A c.914+12C>A c.2203+12C>A c.5356+12C>A (n.5356+12C>A) c.5482+12C>A (n.5482+12C>A) c.5377+12C>A (n.5377+12C>A) c.5329+12C>A (n.5329+12C>A) c.5287+12C>A (n.5287+12C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132963086C= | CA1821029289 | TG | c.5548+12C= (n.5548+12C=) c.81+12C= c.914+12C= c.2203+12C= c.5356+12C= (n.5356+12C=) c.5482+12C= (n.5482+12C=) c.5377+12C= (n.5377+12C=) c.5329+12C= (n.5329+12C=) c.5287+12C= (n.5287+12C=) | |
| 8 | g.132963086C>G | CA2688652485 | TG | c.5548+12C>G (n.5548+12C>G) c.81+12C>G c.914+12C>G c.2203+12C>G c.5356+12C>G (n.5356+12C>G) c.5482+12C>G (n.5482+12C>G) c.5377+12C>G (n.5377+12C>G) c.5329+12C>G (n.5329+12C>G) c.5287+12C>G (n.5287+12C>G) | ClinVar gnomAD v4 |
| 8 | g.132963086C>T | CA186288712 | TG | c.5548+12C>T (n.5548+12C>T) c.81+12C>T c.914+12C>T c.2203+12C>T c.5356+12C>T (n.5356+12C>T) c.5482+12C>T (n.5482+12C>T) c.5377+12C>T (n.5377+12C>T) c.5329+12C>T (n.5329+12C>T) c.5287+12C>T (n.5287+12C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132963088A>C | CA2688652486 | TG | c.5548+14A>C (n.5548+14A>C) c.81+14A>C c.914+14A>C c.2203+14A>C c.5356+14A>C (n.5356+14A>C) c.5482+14A>C (n.5482+14A>C) c.5377+14A>C (n.5377+14A>C) c.5329+14A>C (n.5329+14A>C) c.5287+14A>C (n.5287+14A>C) | gnomAD v4 |
| 8 | g.132963090C= | CA1821029290 | TG | c.5548+16C= (n.5548+16C=) c.81+16C= c.914+16C= c.2203+16C= c.5356+16C= (n.5356+16C=) c.5482+16C= (n.5482+16C=) c.5377+16C= (n.5377+16C=) c.5329+16C= (n.5329+16C=) c.5287+16C= (n.5287+16C=) | |
| 8 | g.132963090C>G | CA2782272869 | TG | c.5548+16C>G (n.5548+16C>G) c.81+16C>G c.914+16C>G c.2203+16C>G c.5356+16C>G (n.5356+16C>G) c.5482+16C>G (n.5482+16C>G) c.5377+16C>G (n.5377+16C>G) c.5329+16C>G (n.5329+16C>G) c.5287+16C>G (n.5287+16C>G) | |
| 8 | g.132963090C>T | CA4884548 | TG | c.5548+16C>T (n.5548+16C>T) c.81+16C>T c.914+16C>T c.2203+16C>T c.5356+16C>T (n.5356+16C>T) c.5482+16C>T (n.5482+16C>T) c.5377+16C>T (n.5377+16C>T) c.5329+16C>T (n.5329+16C>T) c.5287+16C>T (n.5287+16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132963090_132963093delinsCCTT | CA1821029291 | TG | c.5548+16_5548+19delinsCCTT (n.5548+16_5548+19delinsCCTT) c.81+16_81+19delinsCCTT c.914+16_914+19delinsCCTT c.2203+16_2203+19delinsCCTT c.5356+16_5356+19delinsCCTT (n.5356+16_5356+19delinsCCTT) c.5482+16_5482+19delinsCCTT (n.5482+16_5482+19delinsCCTT) c.5377+16_5377+19delinsCCTT (n.5377+16_5377+19delinsCCTT) c.5329+16_5329+19delinsCCTT (n.5329+16_5329+19delinsCCTT) c.5287+16_5287+19delinsCCTT (n.5287+16_5287+19delinsCCTT) | |
| 8 | g.132963090_132963091insACA | CA2782272870 | TG | c.5548+16_5548+17insACA (n.5548+16_5548+17insACA) c.81+16_81+17insACA c.914+16_914+17insACA c.2203+16_2203+17insACA c.5356+16_5356+17insACA (n.5356+16_5356+17insACA) c.5482+16_5482+17insACA (n.5482+16_5482+17insACA) c.5377+16_5377+17insACA (n.5377+16_5377+17insACA) c.5329+16_5329+17insACA (n.5329+16_5329+17insACA) c.5287+16_5287+17insACA (n.5287+16_5287+17insACA) | |
| 8 | g.132963091C>A | CA186288718 | TG | c.5548+17C>A (n.5548+17C>A) c.81+17C>A c.914+17C>A c.2203+17C>A c.5356+17C>A (n.5356+17C>A) c.5482+17C>A (n.5482+17C>A) c.5377+17C>A (n.5377+17C>A) c.5329+17C>A (n.5329+17C>A) c.5287+17C>A (n.5287+17C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132963091C= | CA1821029292 | TG | c.5548+17C= (n.5548+17C=) c.81+17C= c.914+17C= c.2203+17C= c.5356+17C= (n.5356+17C=) c.5482+17C= (n.5482+17C=) c.5377+17C= (n.5377+17C=) c.5329+17C= (n.5329+17C=) c.5287+17C= (n.5287+17C=) | |
| 8 | g.132963091C>T | CA2688652487 | TG | c.5548+17C>T (n.5548+17C>T) c.81+17C>T c.914+17C>T c.2203+17C>T c.5356+17C>T (n.5356+17C>T) c.5482+17C>T (n.5482+17C>T) c.5377+17C>T (n.5377+17C>T) c.5329+17C>T (n.5329+17C>T) c.5287+17C>T (n.5287+17C>T) | gnomAD v4 |
| 8 | g.132963094_132963096del | CA4884549 | TG | c.5548+20_5548+22del (n.5548+20_5548+22del) c.81+20_81+22del c.914+20_914+22del c.2203+20_2203+22del c.5356+20_5356+22del (n.5356+20_5356+22del) c.5482+20_5482+22del (n.5482+20_5482+22del) c.5377+20_5377+22del (n.5377+20_5377+22del) c.5329+20_5329+22del (n.5329+20_5329+22del) c.5287+20_5287+22del (n.5287+20_5287+22del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132963092T>G | CA1821029294 | TG | c.5548+18T>G (n.5548+18T>G) c.81+18T>G c.914+18T>G c.2203+18T>G c.5356+18T>G (n.5356+18T>G) c.5482+18T>G (n.5482+18T>G) c.5377+18T>G (n.5377+18T>G) c.5329+18T>G (n.5329+18T>G) c.5287+18T>G (n.5287+18T>G) | dbSNP |
| 8 | g.132963092T= | CA1821029293 | TG | c.5548+18T= (n.5548+18T=) c.81+18T= c.914+18T= c.2203+18T= c.5356+18T= (n.5356+18T=) c.5482+18T= (n.5482+18T=) c.5377+18T= (n.5377+18T=) c.5329+18T= (n.5329+18T=) c.5287+18T= (n.5287+18T=) | |
| 8 | g.132963092_132963093del | CA2782272871 | TG | c.5548+18_5548+19del (n.5548+18_5548+19del) c.81+18_81+19del c.914+18_914+19del c.2203+18_2203+19del c.5356+18_5356+19del (n.5356+18_5356+19del) c.5482+18_5482+19del (n.5482+18_5482+19del) c.5377+18_5377+19del (n.5377+18_5377+19del) c.5329+18_5329+19del (n.5329+18_5329+19del) c.5287+18_5287+19del (n.5287+18_5287+19del) | |
| 8 | g.132963094C= | CA1821029295 | TG | c.5548+20C= (n.5548+20C=) c.81+20C= c.914+20C= c.2203+20C= c.5356+20C= (n.5356+20C=) c.5482+20C= (n.5482+20C=) c.5377+20C= (n.5377+20C=) c.5329+20C= (n.5329+20C=) c.5287+20C= (n.5287+20C=) | |
| 8 | g.132963094C>G | CA584923276 | TG | c.5548+20C>G (n.5548+20C>G) c.81+20C>G c.914+20C>G c.2203+20C>G c.5356+20C>G (n.5356+20C>G) c.5482+20C>G (n.5482+20C>G) c.5377+20C>G (n.5377+20C>G) c.5329+20C>G (n.5329+20C>G) c.5287+20C>G (n.5287+20C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132963095T>C | CA584923277 | TG | c.5548+21T>C (n.5548+21T>C) c.81+21T>C c.914+21T>C c.2203+21T>C c.5356+21T>C (n.5356+21T>C) c.5482+21T>C (n.5482+21T>C) c.5377+21T>C (n.5377+21T>C) c.5329+21T>C (n.5329+21T>C) c.5287+21T>C (n.5287+21T>C) | dbSNP gnomAD v2 |
| 8 | g.132963095T= | CA1821029296 | TG | c.5548+21T= (n.5548+21T=) c.81+21T= c.914+21T= c.2203+21T= c.5356+21T= (n.5356+21T=) c.5482+21T= (n.5482+21T=) c.5377+21T= (n.5377+21T=) c.5329+21T= (n.5329+21T=) c.5287+21T= (n.5287+21T=) | |
| 8 | g.132963096T>A | CA2782272872 | TG | c.5548+22T>A (n.5548+22T>A) c.81+22T>A c.914+22T>A c.2203+22T>A c.5356+22T>A (n.5356+22T>A) c.5482+22T>A (n.5482+22T>A) c.5377+22T>A (n.5377+22T>A) c.5329+22T>A (n.5329+22T>A) c.5287+22T>A (n.5287+22T>A) | |
| 8 | g.132963096T>C | CA2688652488 | TG | c.5548+22T>C (n.5548+22T>C) c.81+22T>C c.914+22T>C c.2203+22T>C c.5356+22T>C (n.5356+22T>C) c.5482+22T>C (n.5482+22T>C) c.5377+22T>C (n.5377+22T>C) c.5329+22T>C (n.5329+22T>C) c.5287+22T>C (n.5287+22T>C) | gnomAD v4 |
| 8 | g.132963098C>A | CA2688652489 | TG | c.5548+24C>A (n.5548+24C>A) c.81+24C>A c.914+24C>A c.2203+24C>A c.5356+24C>A (n.5356+24C>A) c.5482+24C>A (n.5482+24C>A) c.5377+24C>A (n.5377+24C>A) c.5329+24C>A (n.5329+24C>A) c.5287+24C>A (n.5287+24C>A) | gnomAD v4 |
| 8 | g.132963098C= | CA1821029297 | TG | c.5548+24C= (n.5548+24C=) c.81+24C= c.914+24C= c.2203+24C= c.5356+24C= (n.5356+24C=) c.5482+24C= (n.5482+24C=) c.5377+24C= (n.5377+24C=) c.5329+24C= (n.5329+24C=) c.5287+24C= (n.5287+24C=) | |
| 8 | g.132963098C>T | CA847717245 | TG | c.5548+24C>T (n.5548+24C>T) c.81+24C>T c.914+24C>T c.2203+24C>T c.5356+24C>T (n.5356+24C>T) c.5482+24C>T (n.5482+24C>T) c.5377+24C>T (n.5377+24C>T) c.5329+24C>T (n.5329+24C>T) c.5287+24C>T (n.5287+24C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132963100C>A | CA2688652490 | TG | c.5548+26C>A (n.5548+26C>A) c.81+26C>A c.914+26C>A c.2203+26C>A c.5356+26C>A (n.5356+26C>A) c.5482+26C>A (n.5482+26C>A) c.5377+26C>A (n.5377+26C>A) c.5329+26C>A (n.5329+26C>A) c.5287+26C>A (n.5287+26C>A) | gnomAD v4 |
| 8 | g.132963100C= | CA1821029298 | TG | c.5548+26C= (n.5548+26C=) c.81+26C= c.914+26C= c.2203+26C= c.5356+26C= (n.5356+26C=) c.5482+26C= (n.5482+26C=) c.5377+26C= (n.5377+26C=) c.5329+26C= (n.5329+26C=) c.5287+26C= (n.5287+26C=) | |
| 8 | g.132963100C>T | CA1821029299 | TG | c.5548+26C>T (n.5548+26C>T) c.81+26C>T c.914+26C>T c.2203+26C>T c.5356+26C>T (n.5356+26C>T) c.5482+26C>T (n.5482+26C>T) c.5377+26C>T (n.5377+26C>T) c.5329+26C>T (n.5329+26C>T) c.5287+26C>T (n.5287+26C>T) | dbSNP gnomAD v4 |
| 8 | g.132963101A= | CA1821029300 | TG | c.5548+27A= (n.5548+27A=) c.81+27A= c.914+27A= c.2203+27A= c.5356+27A= (n.5356+27A=) c.5482+27A= (n.5482+27A=) c.5377+27A= (n.5377+27A=) c.5329+27A= (n.5329+27A=) c.5287+27A= (n.5287+27A=) | |
| 8 | g.132963101A>G | CA1119386702 | TG | c.5548+27A>G (n.5548+27A>G) c.81+27A>G c.914+27A>G c.2203+27A>G c.5356+27A>G (n.5356+27A>G) c.5482+27A>G (n.5482+27A>G) c.5377+27A>G (n.5377+27A>G) c.5329+27A>G (n.5329+27A>G) c.5287+27A>G (n.5287+27A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132963102C>T | CA2688652491 | TG | c.5548+28C>T (n.5548+28C>T) c.81+28C>T c.914+28C>T c.2203+28C>T c.5356+28C>T (n.5356+28C>T) c.5482+28C>T (n.5482+28C>T) c.5377+28C>T (n.5377+28C>T) c.5329+28C>T (n.5329+28C>T) c.5287+28C>T (n.5287+28C>T) | gnomAD v4 |
| 8 | g.132963103T>C | CA4884550 | TG | c.5548+29T>C (n.5548+29T>C) c.81+29T>C c.914+29T>C c.2203+29T>C c.5356+29T>C (n.5356+29T>C) c.5482+29T>C (n.5482+29T>C) c.5377+29T>C (n.5377+29T>C) c.5329+29T>C (n.5329+29T>C) c.5287+29T>C (n.5287+29T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132963103T= | CA1821029301 | TG | c.5548+29T= (n.5548+29T=) c.81+29T= c.914+29T= c.2203+29T= c.5356+29T= (n.5356+29T=) c.5482+29T= (n.5482+29T=) c.5377+29T= (n.5377+29T=) c.5329+29T= (n.5329+29T=) c.5287+29T= (n.5287+29T=) | |
| 8 | g.132963105G>A | CA4884551 | TG | c.5548+31G>A (n.5548+31G>A) c.81+31G>A c.914+31G>A c.2203+31G>A c.5356+31G>A (n.5356+31G>A) c.5482+31G>A (n.5482+31G>A) c.5377+31G>A (n.5377+31G>A) c.5329+31G>A (n.5329+31G>A) c.5287+31G>A (n.5287+31G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132963105G>C | CA4884552 | TG | c.5548+31G>C (n.5548+31G>C) c.81+31G>C c.914+31G>C c.2203+31G>C c.5356+31G>C (n.5356+31G>C) c.5482+31G>C (n.5482+31G>C) c.5377+31G>C (n.5377+31G>C) c.5329+31G>C (n.5329+31G>C) c.5287+31G>C (n.5287+31G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132963105G= | CA1821029302 | TG | c.5548+31G= (n.5548+31G=) c.81+31G= c.914+31G= c.2203+31G= c.5356+31G= (n.5356+31G=) c.5482+31G= (n.5482+31G=) c.5377+31G= (n.5377+31G=) c.5329+31G= (n.5329+31G=) c.5287+31G= (n.5287+31G=) | |
| 8 | g.132963105G>T | CA847717248 | TG | c.5548+31G>T (n.5548+31G>T) c.81+31G>T c.914+31G>T c.2203+31G>T c.5356+31G>T (n.5356+31G>T) c.5482+31G>T (n.5482+31G>T) c.5377+31G>T (n.5377+31G>T) c.5329+31G>T (n.5329+31G>T) c.5287+31G>T (n.5287+31G>T) | dbSNP gnomAD v4 |
| 8 | g.132963106G>A | CA2688652492 | TG | c.5548+32G>A (n.5548+32G>A) c.81+32G>A c.914+32G>A c.2203+32G>A c.5356+32G>A (n.5356+32G>A) c.5482+32G>A (n.5482+32G>A) c.5377+32G>A (n.5377+32G>A) c.5329+32G>A (n.5329+32G>A) c.5287+32G>A (n.5287+32G>A) | gnomAD v4 |
| 8 | g.132963107G>A | CA186288728 | TG | c.5548+33G>A (n.5548+33G>A) c.81+33G>A c.914+33G>A c.2203+33G>A c.5356+33G>A (n.5356+33G>A) c.5482+33G>A (n.5482+33G>A) c.5377+33G>A (n.5377+33G>A) c.5329+33G>A (n.5329+33G>A) c.5287+33G>A (n.5287+33G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132963107G>C | CA584923278 | TG | c.5548+33G>C (n.5548+33G>C) c.81+33G>C c.914+33G>C c.2203+33G>C c.5356+33G>C (n.5356+33G>C) c.5482+33G>C (n.5482+33G>C) c.5377+33G>C (n.5377+33G>C) c.5329+33G>C (n.5329+33G>C) c.5287+33G>C (n.5287+33G>C) | dbSNP gnomAD v2 |
| 8 | g.132963107G= | CA1821029303 | TG | c.5548+33G= (n.5548+33G=) c.81+33G= c.914+33G= c.2203+33G= c.5356+33G= (n.5356+33G=) c.5482+33G= (n.5482+33G=) c.5377+33G= (n.5377+33G=) c.5329+33G= (n.5329+33G=) c.5287+33G= (n.5287+33G=) | |
| 8 | g.132963107G>T | CA4884553 | TG | c.5548+33G>T (n.5548+33G>T) c.81+33G>T c.914+33G>T c.2203+33G>T c.5356+33G>T (n.5356+33G>T) c.5482+33G>T (n.5482+33G>T) c.5377+33G>T (n.5377+33G>T) c.5329+33G>T (n.5329+33G>T) c.5287+33G>T (n.5287+33G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132963108T= | CA1821029304 | TG | c.5548+34T= (n.5548+34T=) c.81+34T= c.914+34T= c.2203+34T= c.5356+34T= (n.5356+34T=) c.5482+34T= (n.5482+34T=) c.5377+34T= (n.5377+34T=) c.5329+34T= (n.5329+34T=) c.5287+34T= (n.5287+34T=) | |
| 8 | g.132963109G>A | CA2688652493 | TG | c.5548+35G>A (n.5548+35G>A) c.81+35G>A c.914+35G>A c.2203+35G>A c.5356+35G>A (n.5356+35G>A) c.5482+35G>A (n.5482+35G>A) c.5377+35G>A (n.5377+35G>A) c.5329+35G>A (n.5329+35G>A) c.5287+35G>A (n.5287+35G>A) | gnomAD v4 |
| 8 | g.132963109dup | CA186288733 | TG | c.5548+35dup (n.5548+35dup) c.81+35dup c.914+35dup c.2203+35dup c.5356+35dup (n.5356+35dup) c.5482+35dup (n.5482+35dup) c.5377+35dup (n.5377+35dup) c.5329+35dup (n.5329+35dup) c.5287+35dup (n.5287+35dup) | dbSNP |
| 8 | g.132963111C>A | CA1821029306 | TG | c.5548+37C>A (n.5548+37C>A) c.81+37C>A c.914+37C>A c.2203+37C>A c.5356+37C>A (n.5356+37C>A) c.5482+37C>A (n.5482+37C>A) c.5377+37C>A (n.5377+37C>A) c.5329+37C>A (n.5329+37C>A) c.5287+37C>A (n.5287+37C>A) | dbSNP gnomAD v4 |
| 8 | g.132963111C= | CA1821029305 | TG | c.5548+37C= (n.5548+37C=) c.81+37C= c.914+37C= c.2203+37C= c.5356+37C= (n.5356+37C=) c.5482+37C= (n.5482+37C=) c.5377+37C= (n.5377+37C=) c.5329+37C= (n.5329+37C=) c.5287+37C= (n.5287+37C=) | |
| 8 | g.132963112T>A | CA2579254444 | TG | c.5548+38T>A (n.5548+38T>A) c.81+38T>A c.914+38T>A c.2203+38T>A c.5356+38T>A (n.5356+38T>A) c.5482+38T>A (n.5482+38T>A) c.5377+38T>A (n.5377+38T>A) c.5329+38T>A (n.5329+38T>A) c.5287+38T>A (n.5287+38T>A) | gnomAD v4 |
| 8 | g.132963112T>C | CA2688652495 | TG | c.5548+38T>C (n.5548+38T>C) c.81+38T>C c.914+38T>C c.2203+38T>C c.5356+38T>C (n.5356+38T>C) c.5482+38T>C (n.5482+38T>C) c.5377+38T>C (n.5377+38T>C) c.5329+38T>C (n.5329+38T>C) c.5287+38T>C (n.5287+38T>C) | gnomAD v4 |
| 8 | g.132963114_132963117del | CA2688652494 | TG | c.5548+40_5548+43del (n.5548+40_5548+43del) c.81+40_81+43del c.914+40_914+43del c.2203+40_2203+43del c.5356+40_5356+43del (n.5356+40_5356+43del) c.5482+40_5482+43del (n.5482+40_5482+43del) c.5377+40_5377+43del (n.5377+40_5377+43del) c.5329+40_5329+43del (n.5329+40_5329+43del) c.5287+40_5287+43del (n.5287+40_5287+43del) | gnomAD v4 |
| 8 | g.132963117G>A | CA4884554 | TG | c.5548+43G>A (n.5548+43G>A) c.81+43G>A c.914+43G>A c.2203+43G>A c.5356+43G>A (n.5356+43G>A) c.5482+43G>A (n.5482+43G>A) c.5377+43G>A (n.5377+43G>A) c.5329+43G>A (n.5329+43G>A) c.5287+43G>A (n.5287+43G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132963117G= | CA1821029307 | TG | c.5548+43G= (n.5548+43G=) c.81+43G= c.914+43G= c.2203+43G= c.5356+43G= (n.5356+43G=) c.5482+43G= (n.5482+43G=) c.5377+43G= (n.5377+43G=) c.5329+43G= (n.5329+43G=) c.5287+43G= (n.5287+43G=) | |
| 8 | g.132963118C>A | CA2579254445 | TG | c.5548+44C>A (n.5548+44C>A) c.81+44C>A c.914+44C>A c.2203+44C>A c.5356+44C>A (n.5356+44C>A) c.5482+44C>A (n.5482+44C>A) c.5377+44C>A (n.5377+44C>A) c.5329+44C>A (n.5329+44C>A) c.5287+44C>A (n.5287+44C>A) | |
| 8 | g.132963118C>T | CA2579254446 | TG | c.5548+44C>T (n.5548+44C>T) c.81+44C>T c.914+44C>T c.2203+44C>T c.5356+44C>T (n.5356+44C>T) c.5482+44C>T (n.5482+44C>T) c.5377+44C>T (n.5377+44C>T) c.5329+44C>T (n.5329+44C>T) c.5287+44C>T (n.5287+44C>T) | |
| 8 | g.132963118_132963120delinsCAG | CA1821029308 | TG | c.5548+44_5548+46delinsCAG (n.5548+44_5548+46delinsCAG) c.81+44_81+46delinsCAG c.914+44_914+46delinsCAG c.2203+44_2203+46delinsCAG c.5356+44_5356+46delinsCAG (n.5356+44_5356+46delinsCAG) c.5482+44_5482+46delinsCAG (n.5482+44_5482+46delinsCAG) c.5377+44_5377+46delinsCAG (n.5377+44_5377+46delinsCAG) c.5329+44_5329+46delinsCAG (n.5329+44_5329+46delinsCAG) c.5287+44_5287+46delinsCAG (n.5287+44_5287+46delinsCAG) | |
| 8 | g.132963119A>G | CA2688652496 | TG | c.5548+45A>G (n.5548+45A>G) c.81+45A>G c.914+45A>G c.2203+45A>G c.5356+45A>G (n.5356+45A>G) c.5482+45A>G (n.5482+45A>G) c.5377+45A>G (n.5377+45A>G) c.5329+45A>G (n.5329+45A>G) c.5287+45A>G (n.5287+45A>G) | gnomAD v4 |
| 8 | g.132963122_132963123del | CA584923279 | TG | c.5548+48_5548+49del (n.5548+48_5548+49del) c.81+48_81+49del c.914+48_914+49del c.2203+48_2203+49del c.5356+48_5356+49del (n.5356+48_5356+49del) c.5482+48_5482+49del (n.5482+48_5482+49del) c.5377+48_5377+49del (n.5377+48_5377+49del) c.5329+48_5329+49del (n.5329+48_5329+49del) c.5287+48_5287+49del (n.5287+48_5287+49del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132963122G>T | CA2688652497 | TG | c.5548+48G>T (n.5548+48G>T) c.81+48G>T c.914+48G>T c.2203+48G>T c.5356+48G>T (n.5356+48G>T) c.5482+48G>T (n.5482+48G>T) c.5377+48G>T (n.5377+48G>T) c.5329+48G>T (n.5329+48G>T) c.5287+48G>T (n.5287+48G>T) | gnomAD v4 |
| 8 | g.132963123A= | CA1821029309 | TG | c.5548+49A= (n.5548+49A=) c.81+49A= c.914+49A= c.2203+49A= c.5356+49A= (n.5356+49A=) c.5482+49A= (n.5482+49A=) c.5377+49A= (n.5377+49A=) c.5329+49A= (n.5329+49A=) c.5287+49A= (n.5287+49A=) | |
| 8 | g.132963123A>G | CA4884555 | TG | c.5548+49A>G (n.5548+49A>G) c.81+49A>G c.914+49A>G c.2203+49A>G c.5356+49A>G (n.5356+49A>G) c.5482+49A>G (n.5482+49A>G) c.5377+49A>G (n.5377+49A>G) c.5329+49A>G (n.5329+49A>G) c.5287+49A>G (n.5287+49A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132963124C>A | CA2688652498 | TG | c.5548+50C>A (n.5548+50C>A) c.81+50C>A c.914+50C>A c.2203+50C>A c.5356+50C>A (n.5356+50C>A) c.5482+50C>A (n.5482+50C>A) c.5377+50C>A (n.5377+50C>A) c.5329+50C>A (n.5329+50C>A) c.5287+50C>A (n.5287+50C>A) | gnomAD v4 |
| 8 | g.132963126A= | CA1821029310 | TG | c.5548+52A= (n.5548+52A=) c.81+52A= c.914+52A= c.2203+52A= c.5356+52A= (n.5356+52A=) c.5482+52A= (n.5482+52A=) c.5377+52A= (n.5377+52A=) c.5329+52A= (n.5329+52A=) c.5287+52A= (n.5287+52A=) | |
| 8 | g.132963126A>G | CA584923280 | TG | c.5548+52A>G (n.5548+52A>G) c.81+52A>G c.914+52A>G c.2203+52A>G c.5356+52A>G (n.5356+52A>G) c.5482+52A>G (n.5482+52A>G) c.5377+52A>G (n.5377+52A>G) c.5329+52A>G (n.5329+52A>G) c.5287+52A>G (n.5287+52A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132963127A>G | CA2688652499 | TG | c.5548+53A>G (n.5548+53A>G) c.81+53A>G c.914+53A>G c.2203+53A>G c.5356+53A>G (n.5356+53A>G) c.5482+53A>G (n.5482+53A>G) c.5377+53A>G (n.5377+53A>G) c.5329+53A>G (n.5329+53A>G) c.5287+53A>G (n.5287+53A>G) | gnomAD v4 |
| 8 | g.132963128A>C | CA2688652500 | TG | c.5548+54A>C (n.5548+54A>C) c.81+54A>C c.914+54A>C c.2203+54A>C c.5356+54A>C (n.5356+54A>C) c.5482+54A>C (n.5482+54A>C) c.5377+54A>C (n.5377+54A>C) c.5329+54A>C (n.5329+54A>C) c.5287+54A>C (n.5287+54A>C) | gnomAD v4 |
| 8 | g.132963130G>T | CA2688652501 | TG | c.5548+56G>T (n.5548+56G>T) c.81+56G>T c.914+56G>T c.2203+56G>T c.5356+56G>T (n.5356+56G>T) c.5482+56G>T (n.5482+56G>T) c.5377+56G>T (n.5377+56G>T) c.5329+56G>T (n.5329+56G>T) c.5287+56G>T (n.5287+56G>T) | gnomAD v4 |
| 8 | g.132963131G= | CA1821029311 | TG | c.5548+57G= (n.5548+57G=) c.81+57G= c.914+57G= c.2203+57G= c.5356+57G= (n.5356+57G=) c.5482+57G= (n.5482+57G=) c.5377+57G= (n.5377+57G=) c.5329+57G= (n.5329+57G=) c.5287+57G= (n.5287+57G=) | |
| 8 | g.132963131G>T | CA186288741 | TG | c.5548+57G>T (n.5548+57G>T) c.81+57G>T c.914+57G>T c.2203+57G>T c.5356+57G>T (n.5356+57G>T) c.5482+57G>T (n.5482+57G>T) c.5377+57G>T (n.5377+57G>T) c.5329+57G>T (n.5329+57G>T) c.5287+57G>T (n.5287+57G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132963132G>A | CA1821029313 | TG | c.5548+58G>A (n.5548+58G>A) c.81+58G>A c.914+58G>A c.2203+58G>A c.5356+58G>A (n.5356+58G>A) c.5482+58G>A (n.5482+58G>A) c.5377+58G>A (n.5377+58G>A) c.5329+58G>A (n.5329+58G>A) c.5287+58G>A (n.5287+58G>A) | dbSNP |
| 8 | g.132963132G>C | CA2579254447 | TG | c.5548+58G>C (n.5548+58G>C) c.81+58G>C c.914+58G>C c.2203+58G>C c.5356+58G>C (n.5356+58G>C) c.5482+58G>C (n.5482+58G>C) c.5377+58G>C (n.5377+58G>C) c.5329+58G>C (n.5329+58G>C) c.5287+58G>C (n.5287+58G>C) | |
| 8 | g.132963132G= | CA1821029312 | TG | c.5548+58G= (n.5548+58G=) c.81+58G= c.914+58G= c.2203+58G= c.5356+58G= (n.5356+58G=) c.5482+58G= (n.5482+58G=) c.5377+58G= (n.5377+58G=) c.5329+58G= (n.5329+58G=) c.5287+58G= (n.5287+58G=) | |
| 8 | g.132963132G>T | CA2688652502 | TG | c.5548+58G>T (n.5548+58G>T) c.81+58G>T c.914+58G>T c.2203+58G>T c.5356+58G>T (n.5356+58G>T) c.5482+58G>T (n.5482+58G>T) c.5377+58G>T (n.5377+58G>T) c.5329+58G>T (n.5329+58G>T) c.5287+58G>T (n.5287+58G>T) | gnomAD v4 |
| 8 | g.132963133T>C | CA186288743 | TG | c.5548+59T>C (n.5548+59T>C) c.81+59T>C c.914+59T>C c.2203+59T>C c.5356+59T>C (n.5356+59T>C) c.5482+59T>C (n.5482+59T>C) c.5377+59T>C (n.5377+59T>C) c.5329+59T>C (n.5329+59T>C) c.5287+59T>C (n.5287+59T>C) | dbSNP |
| 8 | g.132963133T>G | CA2688652503 | TG | c.5548+59T>G (n.5548+59T>G) c.81+59T>G c.914+59T>G c.2203+59T>G c.5356+59T>G (n.5356+59T>G) c.5482+59T>G (n.5482+59T>G) c.5377+59T>G (n.5377+59T>G) c.5329+59T>G (n.5329+59T>G) c.5287+59T>G (n.5287+59T>G) | gnomAD v4 |
| 8 | g.132963133T= | CA1821029314 | TG | c.5548+59T= (n.5548+59T=) c.81+59T= c.914+59T= c.2203+59T= c.5356+59T= (n.5356+59T=) c.5482+59T= (n.5482+59T=) c.5377+59T= (n.5377+59T=) c.5329+59T= (n.5329+59T=) c.5287+59T= (n.5287+59T=) | |
| 8 | g.132963134G>A | CA2579254448 | TG | c.5548+60G>A (n.5548+60G>A) c.81+60G>A c.914+60G>A c.2203+60G>A c.5356+60G>A (n.5356+60G>A) c.5482+60G>A (n.5482+60G>A) c.5377+60G>A (n.5377+60G>A) c.5329+60G>A (n.5329+60G>A) c.5287+60G>A (n.5287+60G>A) | gnomAD v4 |
| 8 | g.132963134G>T | CA2688652504 | TG | c.5548+60G>T (n.5548+60G>T) c.81+60G>T c.914+60G>T c.2203+60G>T c.5356+60G>T (n.5356+60G>T) c.5482+60G>T (n.5482+60G>T) c.5377+60G>T (n.5377+60G>T) c.5329+60G>T (n.5329+60G>T) c.5287+60G>T (n.5287+60G>T) | gnomAD v4 |
| 8 | g.132963135C>A | CA2688652505 | TG | c.5548+61C>A (n.5548+61C>A) c.81+61C>A c.914+61C>A c.2203+61C>A c.5356+61C>A (n.5356+61C>A) c.5482+61C>A (n.5482+61C>A) c.5377+61C>A (n.5377+61C>A) c.5329+61C>A (n.5329+61C>A) c.5287+61C>A (n.5287+61C>A) | gnomAD v4 |
| 8 | g.132963136A= | CA1821029315 | TG | c.5548+62A= (n.5548+62A=) c.81+62A= c.914+62A= c.2203+62A= c.5356+62A= (n.5356+62A=) c.5482+62A= (n.5482+62A=) c.5377+62A= (n.5377+62A=) c.5329+62A= (n.5329+62A=) c.5287+62A= (n.5287+62A=) | |
| 8 | g.132963136A>C | CA1821029316 | TG | c.5548+62A>C (n.5548+62A>C) c.81+62A>C c.914+62A>C c.2203+62A>C c.5356+62A>C (n.5356+62A>C) c.5482+62A>C (n.5482+62A>C) c.5377+62A>C (n.5377+62A>C) c.5329+62A>C (n.5329+62A>C) c.5287+62A>C (n.5287+62A>C) | dbSNP |
| 8 | g.132963137C>A | CA2688652506 | TG | c.5548+63C>A (n.5548+63C>A) c.81+63C>A c.914+63C>A c.2203+63C>A c.5356+63C>A (n.5356+63C>A) c.5482+63C>A (n.5482+63C>A) c.5377+63C>A (n.5377+63C>A) c.5329+63C>A (n.5329+63C>A) c.5287+63C>A (n.5287+63C>A) | gnomAD v4 |
| 8 | g.132963137C= | CA1821029317 | TG | c.5548+63C= (n.5548+63C=) c.81+63C= c.914+63C= c.2203+63C= c.5356+63C= (n.5356+63C=) c.5482+63C= (n.5482+63C=) c.5377+63C= (n.5377+63C=) c.5329+63C= (n.5329+63C=) c.5287+63C= (n.5287+63C=) | |
| 8 | g.132963137C>G | CA1821029318 | TG | c.5548+63C>G (n.5548+63C>G) c.81+63C>G c.914+63C>G c.2203+63C>G c.5356+63C>G (n.5356+63C>G) c.5482+63C>G (n.5482+63C>G) c.5377+63C>G (n.5377+63C>G) c.5329+63C>G (n.5329+63C>G) c.5287+63C>G (n.5287+63C>G) | dbSNP |
| 8 | g.132963137C>T | CA1821029319 | TG | c.5548+63C>T (n.5548+63C>T) c.81+63C>T c.914+63C>T c.2203+63C>T c.5356+63C>T (n.5356+63C>T) c.5482+63C>T (n.5482+63C>T) c.5377+63C>T (n.5377+63C>T) c.5329+63C>T (n.5329+63C>T) c.5287+63C>T (n.5287+63C>T) | dbSNP gnomAD v4 |
| 8 | g.132963138C>A | CA2579254449 | TG | c.5548+64C>A (n.5548+64C>A) c.81+64C>A c.914+64C>A c.2203+64C>A c.5356+64C>A (n.5356+64C>A) c.5482+64C>A (n.5482+64C>A) c.5377+64C>A (n.5377+64C>A) c.5329+64C>A (n.5329+64C>A) c.5287+64C>A (n.5287+64C>A) | gnomAD v4 |
| 8 | g.132963139A>G | CA2718292732 | TG | c.5548+65A>G (n.5548+65A>G) c.81+65A>G c.914+65A>G c.2203+65A>G c.5356+65A>G (n.5356+65A>G) c.5482+65A>G (n.5482+65A>G) c.5377+65A>G (n.5377+65A>G) c.5329+65A>G (n.5329+65A>G) c.5287+65A>G (n.5287+65A>G) | dbSNP |
| 8 | g.132963139A>T | CA2688652507 | TG | c.5548+65A>T (n.5548+65A>T) c.81+65A>T c.914+65A>T c.2203+65A>T c.5356+65A>T (n.5356+65A>T) c.5482+65A>T (n.5482+65A>T) c.5377+65A>T (n.5377+65A>T) c.5329+65A>T (n.5329+65A>T) c.5287+65A>T (n.5287+65A>T) | gnomAD v4 |
| 8 | g.132963140A= | CA1821029320 | TG | c.5548+66A= (n.5548+66A=) c.81+66A= c.914+66A= c.2203+66A= c.5356+66A= (n.5356+66A=) c.5482+66A= (n.5482+66A=) c.5377+66A= (n.5377+66A=) c.5329+66A= (n.5329+66A=) c.5287+66A= (n.5287+66A=) | |
| 8 | g.132963140A>G | CA847717274 | TG | c.5548+66A>G (n.5548+66A>G) c.81+66A>G c.914+66A>G c.2203+66A>G c.5356+66A>G (n.5356+66A>G) c.5482+66A>G (n.5482+66A>G) c.5377+66A>G (n.5377+66A>G) c.5329+66A>G (n.5329+66A>G) c.5287+66A>G (n.5287+66A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132963141G>A | CA847717275 | TG | c.5548+67G>A (n.5548+67G>A) c.81+67G>A c.914+67G>A c.2203+67G>A c.5356+67G>A (n.5356+67G>A) c.5482+67G>A (n.5482+67G>A) c.5377+67G>A (n.5377+67G>A) c.5329+67G>A (n.5329+67G>A) c.5287+67G>A (n.5287+67G>A) | dbSNP |
| 8 | g.132963141G= | CA1821029321 | TG | c.5548+67G= (n.5548+67G=) c.81+67G= c.914+67G= c.2203+67G= c.5356+67G= (n.5356+67G=) c.5482+67G= (n.5482+67G=) c.5377+67G= (n.5377+67G=) c.5329+67G= (n.5329+67G=) c.5287+67G= (n.5287+67G=) | |
| 8 | g.132963141G>T | CA2688652508 | TG | c.5548+67G>T (n.5548+67G>T) c.81+67G>T c.914+67G>T c.2203+67G>T c.5356+67G>T (n.5356+67G>T) c.5482+67G>T (n.5482+67G>T) c.5377+67G>T (n.5377+67G>T) c.5329+67G>T (n.5329+67G>T) c.5287+67G>T (n.5287+67G>T) | gnomAD v4 |
| 8 | g.132963143G>A | CA1821029323 | TG | c.5548+69G>A (n.5548+69G>A) c.81+69G>A c.914+69G>A c.2203+69G>A c.5356+69G>A (n.5356+69G>A) c.5482+69G>A (n.5482+69G>A) c.5377+69G>A (n.5377+69G>A) c.5329+69G>A (n.5329+69G>A) c.5287+69G>A (n.5287+69G>A) | dbSNP gnomAD v4 |
| 8 | g.132963143G>C | CA186288745 | TG | c.5548+69G>C (n.5548+69G>C) c.81+69G>C c.914+69G>C c.2203+69G>C c.5356+69G>C (n.5356+69G>C) c.5482+69G>C (n.5482+69G>C) c.5377+69G>C (n.5377+69G>C) c.5329+69G>C (n.5329+69G>C) c.5287+69G>C (n.5287+69G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132963143G= | CA1821029322 | TG | c.5548+69G= (n.5548+69G=) c.81+69G= c.914+69G= c.2203+69G= c.5356+69G= (n.5356+69G=) c.5482+69G= (n.5482+69G=) c.5377+69G= (n.5377+69G=) c.5329+69G= (n.5329+69G=) c.5287+69G= (n.5287+69G=) | |
| 8 | g.132963144T>G | CA186288749 | TG | c.5548+70T>G (n.5548+70T>G) c.81+70T>G c.914+70T>G c.2203+70T>G c.5356+70T>G (n.5356+70T>G) c.5482+70T>G (n.5482+70T>G) c.5377+70T>G (n.5377+70T>G) c.5329+70T>G (n.5329+70T>G) c.5287+70T>G (n.5287+70T>G) | dbSNP |
| 8 | g.132963144T= | CA1821029324 | TG | c.5548+70T= (n.5548+70T=) c.81+70T= c.914+70T= c.2203+70T= c.5356+70T= (n.5356+70T=) c.5482+70T= (n.5482+70T=) c.5377+70T= (n.5377+70T=) c.5329+70T= (n.5329+70T=) c.5287+70T= (n.5287+70T=) | |
| 8 | g.132963145T>C | CA2718292775 | TG | c.5548+71T>C (n.5548+71T>C) c.81+71T>C c.914+71T>C c.2203+71T>C c.5356+71T>C (n.5356+71T>C) c.5482+71T>C (n.5482+71T>C) c.5377+71T>C (n.5377+71T>C) c.5329+71T>C (n.5329+71T>C) c.5287+71T>C (n.5287+71T>C) | dbSNP |
| 8 | g.132963146T>A | CA2688652509 | TG | c.5548+72T>A (n.5548+72T>A) c.81+72T>A c.914+72T>A c.2203+72T>A c.5356+72T>A (n.5356+72T>A) c.5482+72T>A (n.5482+72T>A) c.5377+72T>A (n.5377+72T>A) c.5329+72T>A (n.5329+72T>A) c.5287+72T>A (n.5287+72T>A) | gnomAD v4 |