Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.10239811C>A | CA741073187 | SNAP25 | c.-64+20834C>A (p.=) c.-64+20598C>A (p.=) c.-64+5474C>A (p.=) c.-64+12373C>A (p.=) c.-123-4164C>A (p.=) c.-64+1785C>A (p.=) c.-241-4164C>A (p.=) c.-108-19546C>A (p.=) | |
20 | g.10239813C>T | CA1015342114 | SNAP25 | c.-64+20836C>T (p.=) c.-64+20600C>T (p.=) c.-64+5476C>T (p.=) c.-64+12375C>T (p.=) c.-123-4162C>T (p.=) c.-64+1787C>T (p.=) c.-241-4162C>T (p.=) c.-108-19544C>T (p.=) | |
20 | g.10239829G>A | CA741073188 | SNAP25 | c.-64+20852G>A (p.=) c.-64+20616G>A (p.=) c.-64+5492G>A (p.=) c.-64+12391G>A (p.=) c.-123-4146G>A (p.=) c.-64+1803G>A (p.=) c.-241-4146G>A (p.=) c.-108-19528G>A (p.=) | |
20 | g.10239832G>C | CA741073189 | SNAP25 | c.-64+20855G>C (p.=) c.-64+20619G>C (p.=) c.-64+5495G>C (p.=) c.-64+12394G>C (p.=) c.-123-4143G>C (p.=) c.-64+1806G>C (p.=) c.-241-4143G>C (p.=) c.-108-19525G>C (p.=) | |
20 | g.10239832_10239834del | CA914587242 | SNAP25 | c.-64+20855_-64+20857del (p.=) c.-64+20619_-64+20621del (p.=) c.-64+5495_-64+5497del (p.=) c.-64+12394_-64+12396del (p.=) c.-123-4143_-123-4141del (p.=) c.-64+1806_-64+1808del (p.=) c.-241-4143_-241-4141del (p.=) c.-108-19525_-108-19523del (p.=) | dbSNP gnomAD |
20 | g.10239834G>C | CA741073190 | SNAP25 | c.-64+20857G>C (p.=) c.-64+20621G>C (p.=) c.-64+5497G>C (p.=) c.-64+12396G>C (p.=) c.-123-4141G>C (p.=) c.-64+1808G>C (p.=) c.-241-4141G>C (p.=) c.-108-19523G>C (p.=) | |
20 | g.10239835G>A | CA1015342118 | SNAP25 | c.-64+20858G>A (p.=) c.-64+20622G>A (p.=) c.-64+5498G>A (p.=) c.-64+12397G>A (p.=) c.-123-4140G>A (p.=) c.-64+1809G>A (p.=) c.-241-4140G>A (p.=) c.-108-19522G>A (p.=) | |
20 | g.10239847G>A | CA914587243 | SNAP25 | c.-64+20870G>A (p.=) c.-64+20634G>A (p.=) c.-64+5510G>A (p.=) c.-64+12409G>A (p.=) c.-123-4128G>A (p.=) c.-64+1821G>A (p.=) c.-241-4128G>A (p.=) c.-108-19510G>A (p.=) | gnomAD |
20 | g.10239848G>A | CA14749804 | SNAP25 | c.-64+20871G>A (p.=) c.-64+20635G>A (p.=) c.-64+5511G>A (p.=) c.-64+12410G>A (p.=) c.-123-4127G>A (p.=) c.-64+1822G>A (p.=) c.-241-4127G>A (p.=) c.-108-19509G>A (p.=) | dbSNP gnomAD |
20 | g.10239849G>A | CA311794795 | SNAP25 | c.-64+20872G>A (p.=) c.-64+20636G>A (p.=) c.-64+5512G>A (p.=) c.-64+12411G>A (p.=) c.-123-4126G>A (p.=) c.-64+1823G>A (p.=) c.-241-4126G>A (p.=) c.-108-19508G>A (p.=) | dbSNP |
20 | g.10239851A>G | CA311794796 | SNAP25 | c.-64+20874A>G (p.=) c.-64+20638A>G (p.=) c.-64+5514A>G (p.=) c.-64+12413A>G (p.=) c.-123-4124A>G (p.=) c.-64+1825A>G (p.=) c.-241-4124A>G (p.=) c.-108-19506A>G (p.=) | dbSNP |
20 | g.10239856C>G | CA311794797 | SNAP25 | c.-64+20879C>G (p.=) c.-64+20643C>G (p.=) c.-64+5519C>G (p.=) c.-64+12418C>G (p.=) c.-123-4119C>G (p.=) c.-64+1830C>G (p.=) c.-241-4119C>G (p.=) c.-108-19501C>G (p.=) | dbSNP gnomAD |
20 | g.10239857C>T | CA311794798 | SNAP25 | c.-64+20880C>T (p.=) c.-64+20644C>T (p.=) c.-64+5520C>T (p.=) c.-64+12419C>T (p.=) c.-123-4118C>T (p.=) c.-64+1831C>T (p.=) c.-241-4118C>T (p.=) c.-108-19500C>T (p.=) | dbSNP |
20 | g.10239859C>T | CA1015342121 | SNAP25 | c.-64+20882C>T (p.=) c.-64+20646C>T (p.=) c.-64+5522C>T (p.=) c.-64+12421C>T (p.=) c.-123-4116C>T (p.=) c.-64+1833C>T (p.=) c.-241-4116C>T (p.=) c.-108-19498C>T (p.=) | |
20 | g.10239862G>A | CA634612547 | SNAP25 | c.-64+20885G>A (p.=) c.-64+20649G>A (p.=) c.-64+5525G>A (p.=) c.-64+12424G>A (p.=) c.-123-4113G>A (p.=) c.-64+1836G>A (p.=) c.-241-4113G>A (p.=) c.-108-19495G>A (p.=) | gnomAD |
20 | g.10239866T>C | CA311794799 | SNAP25 | c.-64+20889T>C (p.=) c.-64+20653T>C (p.=) c.-64+5529T>C (p.=) c.-64+12428T>C (p.=) c.-123-4109T>C (p.=) c.-64+1840T>C (p.=) c.-241-4109T>C (p.=) c.-108-19491T>C (p.=) | dbSNP |
20 | g.10239873G>A | CA741073194 | SNAP25 | c.-64+20896G>A (p.=) c.-64+20660G>A (p.=) c.-64+5536G>A (p.=) c.-64+12435G>A (p.=) c.-123-4102G>A (p.=) c.-64+1847G>A (p.=) c.-241-4102G>A (p.=) c.-108-19484G>A (p.=) | |
20 | g.10239878C>T | CA741073195 | SNAP25 | c.-64+20901C>T (p.=) c.-64+20665C>T (p.=) c.-64+5541C>T (p.=) c.-64+12440C>T (p.=) c.-123-4097C>T (p.=) c.-64+1852C>T (p.=) c.-241-4097C>T (p.=) c.-108-19479C>T (p.=) | |
20 | g.10239882A>G | CA634612548 | SNAP25 | c.-64+20905A>G (p.=) c.-64+20669A>G (p.=) c.-64+5545A>G (p.=) c.-64+12444A>G (p.=) c.-123-4093A>G (p.=) c.-64+1856A>G (p.=) c.-241-4093A>G (p.=) c.-108-19475A>G (p.=) | gnomAD |
20 | g.10239887C>T | CA634612549 | SNAP25 | c.-64+20910C>T (p.=) c.-64+20674C>T (p.=) c.-64+5550C>T (p.=) c.-64+12449C>T (p.=) c.-123-4088C>T (p.=) c.-64+1861C>T (p.=) c.-241-4088C>T (p.=) c.-108-19470C>T (p.=) | gnomAD |
20 | g.10239888dup | CA311794800 | SNAP25 | c.-64+20911dup (p.=) c.-64+20675dup (p.=) c.-64+5551dup (p.=) c.-64+12450dup (p.=) c.-123-4087dup (p.=) c.-64+1862dup (p.=) c.-241-4087dup (p.=) c.-108-19469dup (p.=) | dbSNP |
20 | g.10239888C>T | CA311794801 | SNAP25 | c.-64+20911C>T (p.=) c.-64+20675C>T (p.=) c.-64+5551C>T (p.=) c.-64+12450C>T (p.=) c.-123-4087C>T (p.=) c.-64+1862C>T (p.=) c.-241-4087C>T (p.=) c.-108-19469C>T (p.=) | dbSNP |
20 | g.10239892A>G | CA634612552 | SNAP25 | c.-64+20915A>G (p.=) c.-64+20679A>G (p.=) c.-64+5555A>G (p.=) c.-64+12454A>G (p.=) c.-123-4083A>G (p.=) c.-64+1866A>G (p.=) c.-241-4083A>G (p.=) c.-108-19465A>G (p.=) | gnomAD |
20 | g.10239896G>C | CA741073204 | SNAP25 | c.-64+20919G>C (p.=) c.-64+20683G>C (p.=) c.-64+5559G>C (p.=) c.-64+12458G>C (p.=) c.-123-4079G>C (p.=) c.-64+1870G>C (p.=) c.-241-4079G>C (p.=) c.-108-19461G>C (p.=) | |
20 | g.10239897C>T | CA741073205 | SNAP25 | c.-64+20920C>T (p.=) c.-64+20684C>T (p.=) c.-64+5560C>T (p.=) c.-64+12459C>T (p.=) c.-123-4078C>T (p.=) c.-64+1871C>T (p.=) c.-241-4078C>T (p.=) c.-108-19460C>T (p.=) | |
20 | g.10239899T>C | CA311794802 | SNAP25 | c.-64+20922T>C (p.=) c.-64+20686T>C (p.=) c.-64+5562T>C (p.=) c.-64+12461T>C (p.=) c.-123-4076T>C (p.=) c.-64+1873T>C (p.=) c.-241-4076T>C (p.=) c.-108-19458T>C (p.=) | dbSNP |
20 | g.10239909C>G | CA311794803 | SNAP25 | c.-64+20932C>G (p.=) c.-64+20696C>G (p.=) c.-64+5572C>G (p.=) c.-64+12471C>G (p.=) c.-123-4066C>G (p.=) c.-64+1883C>G (p.=) c.-241-4066C>G (p.=) c.-108-19448C>G (p.=) | dbSNP |
20 | g.10239910C>T | CA311794804 | SNAP25 | c.-64+20933C>T (p.=) c.-64+20697C>T (p.=) c.-64+5573C>T (p.=) c.-64+12472C>T (p.=) c.-123-4065C>T (p.=) c.-64+1884C>T (p.=) c.-241-4065C>T (p.=) c.-108-19447C>T (p.=) | dbSNP gnomAD |
20 | g.10239911G>A | CA311794805 | SNAP25 | c.-64+20934G>A (p.=) c.-64+20698G>A (p.=) c.-64+5574G>A (p.=) c.-64+12473G>A (p.=) c.-123-4064G>A (p.=) c.-64+1885G>A (p.=) c.-241-4064G>A (p.=) c.-108-19446G>A (p.=) | dbSNP |