| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.130880747A= | CA2009229872 | SNX19 | c.2633T= (p.Leu878=) c.137T= (p.Leu46=) n.178-1036T= n.395T= c.773T= (p.Leu258=) n.369T= n.993T= c.353T= (p.Leu118=) c.2574-1036T= (n.2574-1036T=) c.2879T= (p.Leu960=) c.2867T= (p.Leu956=) c.2759T= (p.Leu920=) c.1997T= (p.Leu666=) c.1154T= (p.Leu385=) c.1019T= (p.Leu340=) c.899T= (p.Leu300=) c.2513T= (p.Leu838=) c.962T= (p.Leu321=) c.908T= (p.Leu303=) c.653T= (p.Leu218=) c.599T= (p.Leu200=) c.714-1036T= (n.714-1036T=) n.3266T= n.3704T= n.3050T= n.3364T= c.*21029T= (n.*21029T=) n.3258T= | |
| 11 | g.130880747A>C | CA6366590 | SNX19 | c.2633T>G (p.Leu878Arg) c.137T>G (p.Leu46Arg) n.178-1036T>G n.395T>G c.773T>G (p.Leu258Arg) n.369T>G n.993T>G c.353T>G (p.Leu118Arg) c.2574-1036T>G (n.2574-1036T>G) c.2879T>G (p.Leu960Arg) c.2867T>G (p.Leu956Arg) c.2759T>G (p.Leu920Arg) c.1997T>G (p.Leu666Arg) c.1154T>G (p.Leu385Arg) c.1019T>G (p.Leu340Arg) c.899T>G (p.Leu300Arg) c.2513T>G (p.Leu838Arg) c.962T>G (p.Leu321Arg) c.908T>G (p.Leu303Arg) c.653T>G (p.Leu218Arg) c.599T>G (p.Leu200Arg) c.714-1036T>G (n.714-1036T>G) n.3266T>G n.3704T>G n.3050T>G n.3364T>G c.*21029T>G (n.*21029T>G) n.3258T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.130880747A>G | CA383457836 | SNX19 | c.2633T>C (p.Leu878Pro) c.137T>C (p.Leu46Pro) n.178-1036T>C n.395T>C c.773T>C (p.Leu258Pro) n.369T>C n.993T>C c.353T>C (p.Leu118Pro) c.2574-1036T>C (n.2574-1036T>C) c.2879T>C (p.Leu960Pro) c.2867T>C (p.Leu956Pro) c.2759T>C (p.Leu920Pro) c.1997T>C (p.Leu666Pro) c.1154T>C (p.Leu385Pro) c.1019T>C (p.Leu340Pro) c.899T>C (p.Leu300Pro) c.2513T>C (p.Leu838Pro) c.962T>C (p.Leu321Pro) c.908T>C (p.Leu303Pro) c.653T>C (p.Leu218Pro) c.599T>C (p.Leu200Pro) c.714-1036T>C (n.714-1036T>C) n.3266T>C n.3704T>C n.3050T>C n.3364T>C c.*21029T>C (n.*21029T>C) n.3258T>C | gnomAD v4 |
| 11 | g.130880747A>T | CA6366591 | SNX19 | c.2633T>A (p.Leu878Gln) c.137T>A (p.Leu46Gln) n.178-1036T>A n.395T>A c.773T>A (p.Leu258Gln) n.369T>A n.993T>A c.353T>A (p.Leu118Gln) c.2574-1036T>A (n.2574-1036T>A) c.2879T>A (p.Leu960Gln) c.2867T>A (p.Leu956Gln) c.2759T>A (p.Leu920Gln) c.1997T>A (p.Leu666Gln) c.1154T>A (p.Leu385Gln) c.1019T>A (p.Leu340Gln) c.899T>A (p.Leu300Gln) c.2513T>A (p.Leu838Gln) c.962T>A (p.Leu321Gln) c.908T>A (p.Leu303Gln) c.653T>A (p.Leu218Gln) c.599T>A (p.Leu200Gln) c.714-1036T>A (n.714-1036T>A) n.3266T>A n.3704T>A n.3050T>A n.3364T>A c.*21029T>A (n.*21029T>A) n.3258T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.130880748G>A | CA230763272 | SNX19 | c.2632C>T (p.Leu878=) c.136C>T (p.Leu46=) n.178-1037C>T n.394C>T c.772C>T (p.Leu258=) n.368C>T n.992C>T c.352C>T (p.Leu118=) c.2574-1037C>T (n.2574-1037C>T) c.2878C>T (p.Leu960=) c.2866C>T (p.Leu956=) c.2758C>T (p.Leu920=) c.1996C>T (p.Leu666=) c.1153C>T (p.Leu385=) c.1018C>T (p.Leu340=) c.898C>T (p.Leu300=) c.2512C>T (p.Leu838=) c.961C>T (p.Leu321=) c.907C>T (p.Leu303=) c.652C>T (p.Leu218=) c.598C>T (p.Leu200=) c.714-1037C>T (n.714-1037C>T) n.3265C>T n.3703C>T n.3049C>T n.3363C>T c.*21028C>T (n.*21028C>T) n.3257C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.130880748G>C | CA383457837 | SNX19 | c.2632C>G (p.Leu878Val) c.136C>G (p.Leu46Val) n.178-1037C>G n.394C>G c.772C>G (p.Leu258Val) n.368C>G n.992C>G c.352C>G (p.Leu118Val) c.2574-1037C>G (n.2574-1037C>G) c.2878C>G (p.Leu960Val) c.2866C>G (p.Leu956Val) c.2758C>G (p.Leu920Val) c.1996C>G (p.Leu666Val) c.1153C>G (p.Leu385Val) c.1018C>G (p.Leu340Val) c.898C>G (p.Leu300Val) c.2512C>G (p.Leu838Val) c.961C>G (p.Leu321Val) c.907C>G (p.Leu303Val) c.652C>G (p.Leu218Val) c.598C>G (p.Leu200Val) c.714-1037C>G (n.714-1037C>G) n.3265C>G n.3703C>G n.3049C>G n.3363C>G c.*21028C>G (n.*21028C>G) n.3257C>G | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.130880748G= | CA2009229879 | SNX19 | c.2632C= (p.Leu878=) c.136C= (p.Leu46=) n.178-1037C= n.394C= c.772C= (p.Leu258=) n.368C= n.992C= c.352C= (p.Leu118=) c.2574-1037C= (n.2574-1037C=) c.2878C= (p.Leu960=) c.2866C= (p.Leu956=) c.2758C= (p.Leu920=) c.1996C= (p.Leu666=) c.1153C= (p.Leu385=) c.1018C= (p.Leu340=) c.898C= (p.Leu300=) c.2512C= (p.Leu838=) c.961C= (p.Leu321=) c.907C= (p.Leu303=) c.652C= (p.Leu218=) c.598C= (p.Leu200=) c.714-1037C= (n.714-1037C=) n.3265C= n.3703C= n.3049C= n.3363C= c.*21028C= (n.*21028C=) n.3257C= | |
| 11 | g.130880748G>T | CA383457838 | SNX19 | c.2632C>A (p.Leu878Met) c.136C>A (p.Leu46Met) n.178-1037C>A n.394C>A c.772C>A (p.Leu258Met) n.368C>A n.992C>A c.352C>A (p.Leu118Met) c.2574-1037C>A (n.2574-1037C>A) c.2878C>A (p.Leu960Met) c.2866C>A (p.Leu956Met) c.2758C>A (p.Leu920Met) c.1996C>A (p.Leu666Met) c.1153C>A (p.Leu385Met) c.1018C>A (p.Leu340Met) c.898C>A (p.Leu300Met) c.2512C>A (p.Leu838Met) c.961C>A (p.Leu321Met) c.907C>A (p.Leu303Met) c.652C>A (p.Leu218Met) c.598C>A (p.Leu200Met) c.714-1037C>A (n.714-1037C>A) n.3265C>A n.3703C>A n.3049C>A n.3363C>A c.*21028C>A (n.*21028C>A) n.3257C>A | |
| 11 | g.130880749del | CA2616844395 | SNX19 | c.2632del (p.Leu878CysfsTer20) c.136del (p.Leu46CysfsTer20) n.178-1037del n.394del c.772del (p.Leu258CysfsTer20) n.368del n.992del c.352del (p.Leu118CysfsTer20) c.2574-1037del (n.2574-1037del) c.2878del (p.Leu960CysfsTer20) c.2866del (p.Leu956CysfsTer20) c.2758del (p.Leu920CysfsTer20) c.1996del (p.Leu666CysfsTer20) c.1153del (p.Leu385CysfsTer20) c.1018del (p.Leu340CysfsTer20) c.898del (p.Leu300CysfsTer20) c.2512del (p.Leu838CysfsTer20) c.961del (p.Leu321CysfsTer20) c.907del (p.Leu303CysfsTer20) c.652del (p.Leu218CysfsTer20) c.598del (p.Leu200CysfsTer20) c.714-1037del (n.714-1037del) n.3265del n.3703del n.3049del n.3363del c.*21028del (n.*21028del) n.3257del | gnomAD v4 |
| 11 | g.130880749G>A | CA477582328 | SNX19 | c.2631C>T (p.Leu877=) c.135C>T (p.Leu45=) n.178-1038C>T n.393C>T c.771C>T (p.Leu257=) n.367C>T n.991C>T c.351C>T (p.Leu117=) c.2574-1038C>T (n.2574-1038C>T) c.2877C>T (p.Leu959=) c.2865C>T (p.Leu955=) c.2757C>T (p.Leu919=) c.1995C>T (p.Leu665=) c.1152C>T (p.Leu384=) c.1017C>T (p.Leu339=) c.897C>T (p.Leu299=) c.2511C>T (p.Leu837=) c.960C>T (p.Leu320=) c.906C>T (p.Leu302=) c.651C>T (p.Leu217=) c.597C>T (p.Leu199=) c.714-1038C>T (n.714-1038C>T) n.3264C>T n.3702C>T n.3048C>T n.3362C>T c.*21027C>T (n.*21027C>T) n.3256C>T | gnomAD v4 |
| 11 | g.130880749G>C | CA477582329 | SNX19 | c.2631C>G (p.Leu877=) c.135C>G (p.Leu45=) n.178-1038C>G n.393C>G c.771C>G (p.Leu257=) n.367C>G n.991C>G c.351C>G (p.Leu117=) c.2574-1038C>G (n.2574-1038C>G) c.2877C>G (p.Leu959=) c.2865C>G (p.Leu955=) c.2757C>G (p.Leu919=) c.1995C>G (p.Leu665=) c.1152C>G (p.Leu384=) c.1017C>G (p.Leu339=) c.897C>G (p.Leu299=) c.2511C>G (p.Leu837=) c.960C>G (p.Leu320=) c.906C>G (p.Leu302=) c.651C>G (p.Leu217=) c.597C>G (p.Leu199=) c.714-1038C>G (n.714-1038C>G) n.3264C>G n.3702C>G n.3048C>G n.3362C>G c.*21027C>G (n.*21027C>G) n.3256C>G | |
| 11 | g.130880749G>T | CA477582330 | SNX19 | c.2631C>A (p.Leu877=) c.135C>A (p.Leu45=) n.178-1038C>A n.393C>A c.771C>A (p.Leu257=) n.367C>A n.991C>A c.351C>A (p.Leu117=) c.2574-1038C>A (n.2574-1038C>A) c.2877C>A (p.Leu959=) c.2865C>A (p.Leu955=) c.2757C>A (p.Leu919=) c.1995C>A (p.Leu665=) c.1152C>A (p.Leu384=) c.1017C>A (p.Leu339=) c.897C>A (p.Leu299=) c.2511C>A (p.Leu837=) c.960C>A (p.Leu320=) c.906C>A (p.Leu302=) c.651C>A (p.Leu217=) c.597C>A (p.Leu199=) c.714-1038C>A (n.714-1038C>A) n.3264C>A n.3702C>A n.3048C>A n.3362C>A c.*21027C>A (n.*21027C>A) n.3256C>A | |
| 11 | g.130880750A>C | CA383457839 | SNX19 | c.2630T>G (p.Leu877Arg) c.134T>G (p.Leu45Arg) n.178-1039T>G n.392T>G c.770T>G (p.Leu257Arg) n.366T>G n.990T>G c.350T>G (p.Leu117Arg) c.2574-1039T>G (n.2574-1039T>G) c.2876T>G (p.Leu959Arg) c.2864T>G (p.Leu955Arg) c.2756T>G (p.Leu919Arg) c.1994T>G (p.Leu665Arg) c.1151T>G (p.Leu384Arg) c.1016T>G (p.Leu339Arg) c.896T>G (p.Leu299Arg) c.2510T>G (p.Leu837Arg) c.959T>G (p.Leu320Arg) c.905T>G (p.Leu302Arg) c.650T>G (p.Leu217Arg) c.596T>G (p.Leu199Arg) c.714-1039T>G (n.714-1039T>G) n.3263T>G n.3701T>G n.3047T>G n.3361T>G c.*21026T>G (n.*21026T>G) n.3255T>G | |
| 11 | g.130880750A>G | CA383457840 | SNX19 | c.2630T>C (p.Leu877Pro) c.134T>C (p.Leu45Pro) n.178-1039T>C n.392T>C c.770T>C (p.Leu257Pro) n.366T>C n.990T>C c.350T>C (p.Leu117Pro) c.2574-1039T>C (n.2574-1039T>C) c.2876T>C (p.Leu959Pro) c.2864T>C (p.Leu955Pro) c.2756T>C (p.Leu919Pro) c.1994T>C (p.Leu665Pro) c.1151T>C (p.Leu384Pro) c.1016T>C (p.Leu339Pro) c.896T>C (p.Leu299Pro) c.2510T>C (p.Leu837Pro) c.959T>C (p.Leu320Pro) c.905T>C (p.Leu302Pro) c.650T>C (p.Leu217Pro) c.596T>C (p.Leu199Pro) c.714-1039T>C (n.714-1039T>C) n.3263T>C n.3701T>C n.3047T>C n.3361T>C c.*21026T>C (n.*21026T>C) n.3255T>C | gnomAD v4 |
| 11 | g.130880750A>T | CA383457841 | SNX19 | c.2630T>A (p.Leu877His) c.134T>A (p.Leu45His) n.178-1039T>A n.392T>A c.770T>A (p.Leu257His) n.366T>A n.990T>A c.350T>A (p.Leu117His) c.2574-1039T>A (n.2574-1039T>A) c.2876T>A (p.Leu959His) c.2864T>A (p.Leu955His) c.2756T>A (p.Leu919His) c.1994T>A (p.Leu665His) c.1151T>A (p.Leu384His) c.1016T>A (p.Leu339His) c.896T>A (p.Leu299His) c.2510T>A (p.Leu837His) c.959T>A (p.Leu320His) c.905T>A (p.Leu302His) c.650T>A (p.Leu217His) c.596T>A (p.Leu199His) c.714-1039T>A (n.714-1039T>A) n.3263T>A n.3701T>A n.3047T>A n.3361T>A c.*21026T>A (n.*21026T>A) n.3255T>A | |
| 11 | g.130880751G>A | CA383457842 | SNX19 | c.2629C>T (p.Leu877Phe) c.133C>T (p.Leu45Phe) n.178-1040C>T n.391C>T c.769C>T (p.Leu257Phe) n.365C>T n.989C>T c.349C>T (p.Leu117Phe) c.2574-1040C>T (n.2574-1040C>T) c.2875C>T (p.Leu959Phe) c.2863C>T (p.Leu955Phe) c.2755C>T (p.Leu919Phe) c.1993C>T (p.Leu665Phe) c.1150C>T (p.Leu384Phe) c.1015C>T (p.Leu339Phe) c.895C>T (p.Leu299Phe) c.2509C>T (p.Leu837Phe) c.958C>T (p.Leu320Phe) c.904C>T (p.Leu302Phe) c.649C>T (p.Leu217Phe) c.595C>T (p.Leu199Phe) c.714-1040C>T (n.714-1040C>T) n.3262C>T n.3700C>T n.3046C>T n.3360C>T c.*21025C>T (n.*21025C>T) n.3254C>T | gnomAD v4 |
| 11 | g.130880751G>C | CA383457843 | SNX19 | c.2629C>G (p.Leu877Val) c.133C>G (p.Leu45Val) n.178-1040C>G n.391C>G c.769C>G (p.Leu257Val) n.365C>G n.989C>G c.349C>G (p.Leu117Val) c.2574-1040C>G (n.2574-1040C>G) c.2875C>G (p.Leu959Val) c.2863C>G (p.Leu955Val) c.2755C>G (p.Leu919Val) c.1993C>G (p.Leu665Val) c.1150C>G (p.Leu384Val) c.1015C>G (p.Leu339Val) c.895C>G (p.Leu299Val) c.2509C>G (p.Leu837Val) c.958C>G (p.Leu320Val) c.904C>G (p.Leu302Val) c.649C>G (p.Leu217Val) c.595C>G (p.Leu199Val) c.714-1040C>G (n.714-1040C>G) n.3262C>G n.3700C>G n.3046C>G n.3360C>G c.*21025C>G (n.*21025C>G) n.3254C>G | |
| 11 | g.130880751G= | CA2009229883 | SNX19 | c.2629C= (p.Leu877=) c.133C= (p.Leu45=) n.178-1040C= n.391C= c.769C= (p.Leu257=) n.365C= n.989C= c.349C= (p.Leu117=) c.2574-1040C= (n.2574-1040C=) c.2875C= (p.Leu959=) c.2863C= (p.Leu955=) c.2755C= (p.Leu919=) c.1993C= (p.Leu665=) c.1150C= (p.Leu384=) c.1015C= (p.Leu339=) c.895C= (p.Leu299=) c.2509C= (p.Leu837=) c.958C= (p.Leu320=) c.904C= (p.Leu302=) c.649C= (p.Leu217=) c.595C= (p.Leu199=) c.714-1040C= (n.714-1040C=) n.3262C= n.3700C= n.3046C= n.3360C= c.*21025C= (n.*21025C=) n.3254C= | |
| 11 | g.130880751G>T | CA383457844 | SNX19 | c.2629C>A (p.Leu877Ile) c.133C>A (p.Leu45Ile) n.178-1040C>A n.391C>A c.769C>A (p.Leu257Ile) n.365C>A n.989C>A c.349C>A (p.Leu117Ile) c.2574-1040C>A (n.2574-1040C>A) c.2875C>A (p.Leu959Ile) c.2863C>A (p.Leu955Ile) c.2755C>A (p.Leu919Ile) c.1993C>A (p.Leu665Ile) c.1150C>A (p.Leu384Ile) c.1015C>A (p.Leu339Ile) c.895C>A (p.Leu299Ile) c.2509C>A (p.Leu837Ile) c.958C>A (p.Leu320Ile) c.904C>A (p.Leu302Ile) c.649C>A (p.Leu217Ile) c.595C>A (p.Leu199Ile) c.714-1040C>A (n.714-1040C>A) n.3262C>A n.3700C>A n.3046C>A n.3360C>A c.*21025C>A (n.*21025C>A) n.3254C>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.130880752G>A | CA477582331 | SNX19 | c.2628C>T (p.Tyr876=) c.132C>T (p.Tyr44=) n.178-1041C>T n.390C>T c.768C>T (p.Tyr256=) n.364C>T n.988C>T c.348C>T (p.Tyr116=) c.2574-1041C>T (n.2574-1041C>T) c.2874C>T (p.Tyr958=) c.2862C>T (p.Tyr954=) c.2754C>T (p.Tyr918=) c.1992C>T (p.Tyr664=) c.1149C>T (p.Tyr383=) c.1014C>T (p.Tyr338=) c.894C>T (p.Tyr298=) c.2508C>T (p.Tyr836=) c.957C>T (p.Tyr319=) c.903C>T (p.Tyr301=) c.648C>T (p.Tyr216=) c.594C>T (p.Tyr198=) c.714-1041C>T (n.714-1041C>T) n.3261C>T n.3699C>T n.3045C>T n.3359C>T c.*21024C>T (n.*21024C>T) n.3253C>T | gnomAD v4 |
| 11 | g.130880752G>C | CA383457846 | SNX19 | c.2628C>G (p.Tyr876Ter) c.132C>G (p.Tyr44Ter) n.178-1041C>G n.390C>G c.768C>G (p.Tyr256Ter) n.364C>G n.988C>G c.348C>G (p.Tyr116Ter) c.2574-1041C>G (n.2574-1041C>G) c.2874C>G (p.Tyr958Ter) c.2862C>G (p.Tyr954Ter) c.2754C>G (p.Tyr918Ter) c.1992C>G (p.Tyr664Ter) c.1149C>G (p.Tyr383Ter) c.1014C>G (p.Tyr338Ter) c.894C>G (p.Tyr298Ter) c.2508C>G (p.Tyr836Ter) c.957C>G (p.Tyr319Ter) c.903C>G (p.Tyr301Ter) c.648C>G (p.Tyr216Ter) c.594C>G (p.Tyr198Ter) c.714-1041C>G (n.714-1041C>G) n.3261C>G n.3699C>G n.3045C>G n.3359C>G c.*21024C>G (n.*21024C>G) n.3253C>G | |
| 11 | g.130880752G>T | CA383457845 | SNX19 | c.2628C>A (p.Tyr876Ter) c.132C>A (p.Tyr44Ter) n.178-1041C>A n.390C>A c.768C>A (p.Tyr256Ter) n.364C>A n.988C>A c.348C>A (p.Tyr116Ter) c.2574-1041C>A (n.2574-1041C>A) c.2874C>A (p.Tyr958Ter) c.2862C>A (p.Tyr954Ter) c.2754C>A (p.Tyr918Ter) c.1992C>A (p.Tyr664Ter) c.1149C>A (p.Tyr383Ter) c.1014C>A (p.Tyr338Ter) c.894C>A (p.Tyr298Ter) c.2508C>A (p.Tyr836Ter) c.957C>A (p.Tyr319Ter) c.903C>A (p.Tyr301Ter) c.648C>A (p.Tyr216Ter) c.594C>A (p.Tyr198Ter) c.714-1041C>A (n.714-1041C>A) n.3261C>A n.3699C>A n.3045C>A n.3359C>A c.*21024C>A (n.*21024C>A) n.3253C>A | |
| 11 | g.130880753T>A | CA383457847 | SNX19 | c.2627A>T (p.Tyr876Phe) c.131A>T (p.Tyr44Phe) n.178-1042A>T n.389A>T c.767A>T (p.Tyr256Phe) n.363A>T n.987A>T c.347A>T (p.Tyr116Phe) c.2574-1042A>T (n.2574-1042A>T) c.2873A>T (p.Tyr958Phe) c.2861A>T (p.Tyr954Phe) c.2753A>T (p.Tyr918Phe) c.1991A>T (p.Tyr664Phe) c.1148A>T (p.Tyr383Phe) c.1013A>T (p.Tyr338Phe) c.893A>T (p.Tyr298Phe) c.2507A>T (p.Tyr836Phe) c.956A>T (p.Tyr319Phe) c.902A>T (p.Tyr301Phe) c.647A>T (p.Tyr216Phe) c.593A>T (p.Tyr198Phe) c.714-1042A>T (n.714-1042A>T) n.3260A>T n.3698A>T n.3044A>T n.3358A>T c.*21023A>T (n.*21023A>T) n.3252A>T | |
| 11 | g.130880753T>C | CA383457848 | SNX19 | c.2627A>G (p.Tyr876Cys) c.131A>G (p.Tyr44Cys) n.178-1042A>G n.389A>G c.767A>G (p.Tyr256Cys) n.363A>G n.987A>G c.347A>G (p.Tyr116Cys) c.2574-1042A>G (n.2574-1042A>G) c.2873A>G (p.Tyr958Cys) c.2861A>G (p.Tyr954Cys) c.2753A>G (p.Tyr918Cys) c.1991A>G (p.Tyr664Cys) c.1148A>G (p.Tyr383Cys) c.1013A>G (p.Tyr338Cys) c.893A>G (p.Tyr298Cys) c.2507A>G (p.Tyr836Cys) c.956A>G (p.Tyr319Cys) c.902A>G (p.Tyr301Cys) c.647A>G (p.Tyr216Cys) c.593A>G (p.Tyr198Cys) c.714-1042A>G (n.714-1042A>G) n.3260A>G n.3698A>G n.3044A>G n.3358A>G c.*21023A>G (n.*21023A>G) n.3252A>G | |
| 11 | g.130880753T>G | CA383457849 | SNX19 | c.2627A>C (p.Tyr876Ser) c.131A>C (p.Tyr44Ser) n.178-1042A>C n.389A>C c.767A>C (p.Tyr256Ser) n.363A>C n.987A>C c.347A>C (p.Tyr116Ser) c.2574-1042A>C (n.2574-1042A>C) c.2873A>C (p.Tyr958Ser) c.2861A>C (p.Tyr954Ser) c.2753A>C (p.Tyr918Ser) c.1991A>C (p.Tyr664Ser) c.1148A>C (p.Tyr383Ser) c.1013A>C (p.Tyr338Ser) c.893A>C (p.Tyr298Ser) c.2507A>C (p.Tyr836Ser) c.956A>C (p.Tyr319Ser) c.902A>C (p.Tyr301Ser) c.647A>C (p.Tyr216Ser) c.593A>C (p.Tyr198Ser) c.714-1042A>C (n.714-1042A>C) n.3260A>C n.3698A>C n.3044A>C n.3358A>C c.*21023A>C (n.*21023A>C) n.3252A>C | |
| 11 | g.130880754A>C | CA383457850 | SNX19 | c.2626T>G (p.Tyr876Asp) c.130T>G (p.Tyr44Asp) n.178-1043T>G n.388T>G c.766T>G (p.Tyr256Asp) n.362T>G n.986T>G c.346T>G (p.Tyr116Asp) c.2574-1043T>G (n.2574-1043T>G) c.2872T>G (p.Tyr958Asp) c.2860T>G (p.Tyr954Asp) c.2752T>G (p.Tyr918Asp) c.1990T>G (p.Tyr664Asp) c.1147T>G (p.Tyr383Asp) c.1012T>G (p.Tyr338Asp) c.892T>G (p.Tyr298Asp) c.2506T>G (p.Tyr836Asp) c.955T>G (p.Tyr319Asp) c.901T>G (p.Tyr301Asp) c.646T>G (p.Tyr216Asp) c.592T>G (p.Tyr198Asp) c.714-1043T>G (n.714-1043T>G) n.3259T>G n.3697T>G n.3043T>G n.3357T>G c.*21022T>G (n.*21022T>G) n.3251T>G | |
| 11 | g.130880754A>G | CA383457851 | SNX19 | c.2626T>C (p.Tyr876His) c.130T>C (p.Tyr44His) n.178-1043T>C n.388T>C c.766T>C (p.Tyr256His) n.362T>C n.986T>C c.346T>C (p.Tyr116His) c.2574-1043T>C (n.2574-1043T>C) c.2872T>C (p.Tyr958His) c.2860T>C (p.Tyr954His) c.2752T>C (p.Tyr918His) c.1990T>C (p.Tyr664His) c.1147T>C (p.Tyr383His) c.1012T>C (p.Tyr338His) c.892T>C (p.Tyr298His) c.2506T>C (p.Tyr836His) c.955T>C (p.Tyr319His) c.901T>C (p.Tyr301His) c.646T>C (p.Tyr216His) c.592T>C (p.Tyr198His) c.714-1043T>C (n.714-1043T>C) n.3259T>C n.3697T>C n.3043T>C n.3357T>C c.*21022T>C (n.*21022T>C) n.3251T>C | |
| 11 | g.130880754A>T | CA383457852 | SNX19 | c.2626T>A (p.Tyr876Asn) c.130T>A (p.Tyr44Asn) n.178-1043T>A n.388T>A c.766T>A (p.Tyr256Asn) n.362T>A n.986T>A c.346T>A (p.Tyr116Asn) c.2574-1043T>A (n.2574-1043T>A) c.2872T>A (p.Tyr958Asn) c.2860T>A (p.Tyr954Asn) c.2752T>A (p.Tyr918Asn) c.1990T>A (p.Tyr664Asn) c.1147T>A (p.Tyr383Asn) c.1012T>A (p.Tyr338Asn) c.892T>A (p.Tyr298Asn) c.2506T>A (p.Tyr836Asn) c.955T>A (p.Tyr319Asn) c.901T>A (p.Tyr301Asn) c.646T>A (p.Tyr216Asn) c.592T>A (p.Tyr198Asn) c.714-1043T>A (n.714-1043T>A) n.3259T>A n.3697T>A n.3043T>A n.3357T>A c.*21022T>A (n.*21022T>A) n.3251T>A | |
| 11 | g.130880755C>A | CA383457854 | SNX19 | c.2625G>T (p.Gln875His) c.129G>T (p.Gln43His) n.178-1044G>T n.387G>T c.765G>T (p.Gln255His) n.361G>T n.985G>T c.345G>T (p.Gln115His) c.2574-1044G>T (n.2574-1044G>T) c.2871G>T (p.Gln957His) c.2859G>T (p.Gln953His) c.2751G>T (p.Gln917His) c.1989G>T (p.Gln663His) c.1146G>T (p.Gln382His) c.1011G>T (p.Gln337His) c.891G>T (p.Gln297His) c.2505G>T (p.Gln835His) c.954G>T (p.Gln318His) c.900G>T (p.Gln300His) c.645G>T (p.Gln215His) c.591G>T (p.Gln197His) c.714-1044G>T (n.714-1044G>T) n.3258G>T n.3696G>T n.3042G>T n.3356G>T c.*21021G>T (n.*21021G>T) n.3250G>T | gnomAD v4 |
| 11 | g.130880755C= | CA2009229888 | SNX19 | c.2625G= (p.Gln875=) c.129G= (p.Gln43=) n.178-1044G= n.387G= c.765G= (p.Gln255=) n.361G= n.985G= c.345G= (p.Gln115=) c.2574-1044G= (n.2574-1044G=) c.2871G= (p.Gln957=) c.2859G= (p.Gln953=) c.2751G= (p.Gln917=) c.1989G= (p.Gln663=) c.1146G= (p.Gln382=) c.1011G= (p.Gln337=) c.891G= (p.Gln297=) c.2505G= (p.Gln835=) c.954G= (p.Gln318=) c.900G= (p.Gln300=) c.645G= (p.Gln215=) c.591G= (p.Gln197=) c.714-1044G= (n.714-1044G=) n.3258G= n.3696G= n.3042G= n.3356G= c.*21021G= (n.*21021G=) n.3250G= | |
| 11 | g.130880755C>G | CA383457853 | SNX19 | c.2625G>C (p.Gln875His) c.129G>C (p.Gln43His) n.178-1044G>C n.387G>C c.765G>C (p.Gln255His) n.361G>C n.985G>C c.345G>C (p.Gln115His) c.2574-1044G>C (n.2574-1044G>C) c.2871G>C (p.Gln957His) c.2859G>C (p.Gln953His) c.2751G>C (p.Gln917His) c.1989G>C (p.Gln663His) c.1146G>C (p.Gln382His) c.1011G>C (p.Gln337His) c.891G>C (p.Gln297His) c.2505G>C (p.Gln835His) c.954G>C (p.Gln318His) c.900G>C (p.Gln300His) c.645G>C (p.Gln215His) c.591G>C (p.Gln197His) c.714-1044G>C (n.714-1044G>C) n.3258G>C n.3696G>C n.3042G>C n.3356G>C c.*21021G>C (n.*21021G>C) n.3250G>C | gnomAD v4 |
| 11 | g.130880755C>T | CA230763276 | SNX19 | c.2625G>A (p.Gln875=) c.129G>A (p.Gln43=) n.178-1044G>A n.387G>A c.765G>A (p.Gln255=) n.361G>A n.985G>A c.345G>A (p.Gln115=) c.2574-1044G>A (n.2574-1044G>A) c.2871G>A (p.Gln957=) c.2859G>A (p.Gln953=) c.2751G>A (p.Gln917=) c.1989G>A (p.Gln663=) c.1146G>A (p.Gln382=) c.1011G>A (p.Gln337=) c.891G>A (p.Gln297=) c.2505G>A (p.Gln835=) c.954G>A (p.Gln318=) c.900G>A (p.Gln300=) c.645G>A (p.Gln215=) c.591G>A (p.Gln197=) c.714-1044G>A (n.714-1044G>A) n.3258G>A n.3696G>A n.3042G>A n.3356G>A c.*21021G>A (n.*21021G>A) n.3250G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.130880760_130880761insTCCTGCAC | CA2616844396 | SNX19 | c.2625_2626insGAGTGCAG (p.Tyr876GlufsTer25) c.129_130insGAGTGCAG (p.Tyr44GlufsTer25) n.178-1044_178-1043insGAGTGCAG n.387_388insGAGTGCAG c.765_766insGAGTGCAG (p.Tyr256GlufsTer25) n.361_362insGAGTGCAG n.985_986insGAGTGCAG c.345_346insGAGTGCAG (p.Tyr116GlufsTer25) c.2574-1044_2574-1043insGAGTGCAG (n.2574-1044_2574-1043insGAGTGCAG) c.2871_2872insGAGTGCAG (p.Tyr958GlufsTer25) c.2859_2860insGAGTGCAG (p.Tyr954GlufsTer25) c.2751_2752insGAGTGCAG (p.Tyr918GlufsTer25) c.1989_1990insGAGTGCAG (p.Tyr664GlufsTer25) c.1146_1147insGAGTGCAG (p.Tyr383GlufsTer25) c.1011_1012insGAGTGCAG (p.Tyr338GlufsTer25) c.891_892insGAGTGCAG (p.Tyr298GlufsTer25) c.2505_2506insGAGTGCAG (p.Tyr836GlufsTer25) c.954_955insGAGTGCAG (p.Tyr319GlufsTer25) c.900_901insGAGTGCAG (p.Tyr301GlufsTer25) c.645_646insGAGTGCAG (p.Tyr216GlufsTer25) c.591_592insGAGTGCAG (p.Tyr198GlufsTer25) c.714-1044_714-1043insGAGTGCAG (n.714-1044_714-1043insGAGTGCAG) n.3258_3259insGAGTGCAG n.3696_3697insGAGTGCAG n.3042_3043insGAGTGCAG n.3356_3357insGAGTGCAG c.*21021_*21022insGAGTGCAG (n.*21021_*21022insGAGTGCAG) n.3250_3251insGAGTGCAG | gnomAD v4 |
| 11 | g.130880756T>A | CA383457855 | SNX19 | c.2624A>T (p.Gln875Leu) c.128A>T (p.Gln43Leu) n.178-1045A>T n.386A>T c.764A>T (p.Gln255Leu) n.360A>T n.984A>T c.344A>T (p.Gln115Leu) c.2574-1045A>T (n.2574-1045A>T) c.2870A>T (p.Gln957Leu) c.2858A>T (p.Gln953Leu) c.2750A>T (p.Gln917Leu) c.1988A>T (p.Gln663Leu) c.1145A>T (p.Gln382Leu) c.1010A>T (p.Gln337Leu) c.890A>T (p.Gln297Leu) c.2504A>T (p.Gln835Leu) c.953A>T (p.Gln318Leu) c.899A>T (p.Gln300Leu) c.644A>T (p.Gln215Leu) c.590A>T (p.Gln197Leu) c.714-1045A>T (n.714-1045A>T) n.3257A>T n.3695A>T n.3041A>T n.3355A>T c.*21020A>T (n.*21020A>T) n.3249A>T | |
| 11 | g.130880756T>C | CA230763279 | SNX19 | c.2624A>G (p.Gln875Arg) c.128A>G (p.Gln43Arg) n.178-1045A>G n.386A>G c.764A>G (p.Gln255Arg) n.360A>G n.984A>G c.344A>G (p.Gln115Arg) c.2574-1045A>G (n.2574-1045A>G) c.2870A>G (p.Gln957Arg) c.2858A>G (p.Gln953Arg) c.2750A>G (p.Gln917Arg) c.1988A>G (p.Gln663Arg) c.1145A>G (p.Gln382Arg) c.1010A>G (p.Gln337Arg) c.890A>G (p.Gln297Arg) c.2504A>G (p.Gln835Arg) c.953A>G (p.Gln318Arg) c.899A>G (p.Gln300Arg) c.644A>G (p.Gln215Arg) c.590A>G (p.Gln197Arg) c.714-1045A>G (n.714-1045A>G) n.3257A>G n.3695A>G n.3041A>G n.3355A>G c.*21020A>G (n.*21020A>G) n.3249A>G | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.130880756T>G | CA383457856 | SNX19 | c.2624A>C (p.Gln875Pro) c.128A>C (p.Gln43Pro) n.178-1045A>C n.386A>C c.764A>C (p.Gln255Pro) n.360A>C n.984A>C c.344A>C (p.Gln115Pro) c.2574-1045A>C (n.2574-1045A>C) c.2870A>C (p.Gln957Pro) c.2858A>C (p.Gln953Pro) c.2750A>C (p.Gln917Pro) c.1988A>C (p.Gln663Pro) c.1145A>C (p.Gln382Pro) c.1010A>C (p.Gln337Pro) c.890A>C (p.Gln297Pro) c.2504A>C (p.Gln835Pro) c.953A>C (p.Gln318Pro) c.899A>C (p.Gln300Pro) c.644A>C (p.Gln215Pro) c.590A>C (p.Gln197Pro) c.714-1045A>C (n.714-1045A>C) n.3257A>C n.3695A>C n.3041A>C n.3355A>C c.*21020A>C (n.*21020A>C) n.3249A>C | |
| 11 | g.130880756T= | CA2009229892 | SNX19 | c.2624A= (p.Gln875=) c.128A= (p.Gln43=) n.178-1045A= n.386A= c.764A= (p.Gln255=) n.360A= n.984A= c.344A= (p.Gln115=) c.2574-1045A= (n.2574-1045A=) c.2870A= (p.Gln957=) c.2858A= (p.Gln953=) c.2750A= (p.Gln917=) c.1988A= (p.Gln663=) c.1145A= (p.Gln382=) c.1010A= (p.Gln337=) c.890A= (p.Gln297=) c.2504A= (p.Gln835=) c.953A= (p.Gln318=) c.899A= (p.Gln300=) c.644A= (p.Gln215=) c.590A= (p.Gln197=) c.714-1045A= (n.714-1045A=) n.3257A= n.3695A= n.3041A= n.3355A= c.*21020A= (n.*21020A=) n.3249A= | |
| 11 | g.130880757G>A | CA383457857 | SNX19 | c.2623C>T (p.Gln875Ter) c.127C>T (p.Gln43Ter) n.178-1046C>T n.385C>T c.763C>T (p.Gln255Ter) n.359C>T n.983C>T c.343C>T (p.Gln115Ter) c.2574-1046C>T (n.2574-1046C>T) c.2869C>T (p.Gln957Ter) c.2857C>T (p.Gln953Ter) c.2749C>T (p.Gln917Ter) c.1987C>T (p.Gln663Ter) c.1144C>T (p.Gln382Ter) c.1009C>T (p.Gln337Ter) c.889C>T (p.Gln297Ter) c.2503C>T (p.Gln835Ter) c.952C>T (p.Gln318Ter) c.898C>T (p.Gln300Ter) c.643C>T (p.Gln215Ter) c.589C>T (p.Gln197Ter) c.714-1046C>T (n.714-1046C>T) n.3256C>T n.3694C>T n.3040C>T n.3354C>T c.*21019C>T (n.*21019C>T) n.3248C>T | gnomAD v4 |
| 11 | g.130880757G>C | CA383457858 | SNX19 | c.2623C>G (p.Gln875Glu) c.127C>G (p.Gln43Glu) n.178-1046C>G n.385C>G c.763C>G (p.Gln255Glu) n.359C>G n.983C>G c.343C>G (p.Gln115Glu) c.2574-1046C>G (n.2574-1046C>G) c.2869C>G (p.Gln957Glu) c.2857C>G (p.Gln953Glu) c.2749C>G (p.Gln917Glu) c.1987C>G (p.Gln663Glu) c.1144C>G (p.Gln382Glu) c.1009C>G (p.Gln337Glu) c.889C>G (p.Gln297Glu) c.2503C>G (p.Gln835Glu) c.952C>G (p.Gln318Glu) c.898C>G (p.Gln300Glu) c.643C>G (p.Gln215Glu) c.589C>G (p.Gln197Glu) c.714-1046C>G (n.714-1046C>G) n.3256C>G n.3694C>G n.3040C>G n.3354C>G c.*21019C>G (n.*21019C>G) n.3248C>G | |
| 11 | g.130880757G>T | CA383457859 | SNX19 | c.2623C>A (p.Gln875Lys) c.127C>A (p.Gln43Lys) n.178-1046C>A n.385C>A c.763C>A (p.Gln255Lys) n.359C>A n.983C>A c.343C>A (p.Gln115Lys) c.2574-1046C>A (n.2574-1046C>A) c.2869C>A (p.Gln957Lys) c.2857C>A (p.Gln953Lys) c.2749C>A (p.Gln917Lys) c.1987C>A (p.Gln663Lys) c.1144C>A (p.Gln382Lys) c.1009C>A (p.Gln337Lys) c.889C>A (p.Gln297Lys) c.2503C>A (p.Gln835Lys) c.952C>A (p.Gln318Lys) c.898C>A (p.Gln300Lys) c.643C>A (p.Gln215Lys) c.589C>A (p.Gln197Lys) c.714-1046C>A (n.714-1046C>A) n.3256C>A n.3694C>A n.3040C>A n.3354C>A c.*21019C>A (n.*21019C>A) n.3248C>A | |
| 11 | g.130880758C>A | CA477582332 | SNX19 | c.2622G>T (p.Val874=) c.126G>T (p.Val42=) n.178-1047G>T n.384G>T c.762G>T (p.Val254=) n.358G>T n.982G>T c.342G>T (p.Val114=) c.2574-1047G>T (n.2574-1047G>T) c.2868G>T (p.Val956=) c.2856G>T (p.Val952=) c.2748G>T (p.Val916=) c.1986G>T (p.Val662=) c.1143G>T (p.Val381=) c.1008G>T (p.Val336=) c.888G>T (p.Val296=) c.2502G>T (p.Val834=) c.951G>T (p.Val317=) c.897G>T (p.Val299=) c.642G>T (p.Val214=) c.588G>T (p.Val196=) c.714-1047G>T (n.714-1047G>T) n.3255G>T n.3693G>T n.3039G>T n.3353G>T c.*21018G>T (n.*21018G>T) n.3247G>T | gnomAD v4 |
| 11 | g.130880758C>G | CA477582333 | SNX19 | c.2622G>C (p.Val874=) c.126G>C (p.Val42=) n.178-1047G>C n.384G>C c.762G>C (p.Val254=) n.358G>C n.982G>C c.342G>C (p.Val114=) c.2574-1047G>C (n.2574-1047G>C) c.2868G>C (p.Val956=) c.2856G>C (p.Val952=) c.2748G>C (p.Val916=) c.1986G>C (p.Val662=) c.1143G>C (p.Val381=) c.1008G>C (p.Val336=) c.888G>C (p.Val296=) c.2502G>C (p.Val834=) c.951G>C (p.Val317=) c.897G>C (p.Val299=) c.642G>C (p.Val214=) c.588G>C (p.Val196=) c.714-1047G>C (n.714-1047G>C) n.3255G>C n.3693G>C n.3039G>C n.3353G>C c.*21018G>C (n.*21018G>C) n.3247G>C | |
| 11 | g.130880758C>T | CA477582334 | SNX19 | c.2622G>A (p.Val874=) c.126G>A (p.Val42=) n.178-1047G>A n.384G>A c.762G>A (p.Val254=) n.358G>A n.982G>A c.342G>A (p.Val114=) c.2574-1047G>A (n.2574-1047G>A) c.2868G>A (p.Val956=) c.2856G>A (p.Val952=) c.2748G>A (p.Val916=) c.1986G>A (p.Val662=) c.1143G>A (p.Val381=) c.1008G>A (p.Val336=) c.888G>A (p.Val296=) c.2502G>A (p.Val834=) c.951G>A (p.Val317=) c.897G>A (p.Val299=) c.642G>A (p.Val214=) c.588G>A (p.Val196=) c.714-1047G>A (n.714-1047G>A) n.3255G>A n.3693G>A n.3039G>A n.3353G>A c.*21018G>A (n.*21018G>A) n.3247G>A | gnomAD v4 |
| 11 | g.130880759A= | CA2009229901 | SNX19 | c.2621T= (p.Val874=) c.125T= (p.Val42=) n.178-1048T= n.383T= c.761T= (p.Val254=) n.357T= n.981T= c.341T= (p.Val114=) c.2574-1048T= (n.2574-1048T=) c.2867T= (p.Val956=) c.2855T= (p.Val952=) c.2747T= (p.Val916=) c.1985T= (p.Val662=) c.1142T= (p.Val381=) c.1007T= (p.Val336=) c.887T= (p.Val296=) c.2501T= (p.Val834=) c.950T= (p.Val317=) c.896T= (p.Val299=) c.641T= (p.Val214=) c.587T= (p.Val196=) c.714-1048T= (n.714-1048T=) n.3254T= n.3692T= n.3038T= n.3352T= c.*21017T= (n.*21017T=) n.3246T= | |
| 11 | g.130880759A>C | CA6366592 | SNX19 | c.2621T>G (p.Val874Gly) c.125T>G (p.Val42Gly) n.178-1048T>G n.383T>G c.761T>G (p.Val254Gly) n.357T>G n.981T>G c.341T>G (p.Val114Gly) c.2574-1048T>G (n.2574-1048T>G) c.2867T>G (p.Val956Gly) c.2855T>G (p.Val952Gly) c.2747T>G (p.Val916Gly) c.1985T>G (p.Val662Gly) c.1142T>G (p.Val381Gly) c.1007T>G (p.Val336Gly) c.887T>G (p.Val296Gly) c.2501T>G (p.Val834Gly) c.950T>G (p.Val317Gly) c.896T>G (p.Val299Gly) c.641T>G (p.Val214Gly) c.587T>G (p.Val196Gly) c.714-1048T>G (n.714-1048T>G) n.3254T>G n.3692T>G n.3038T>G n.3352T>G c.*21017T>G (n.*21017T>G) n.3246T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.130880759A>G | CA383457860 | SNX19 | c.2621T>C (p.Val874Ala) c.125T>C (p.Val42Ala) n.178-1048T>C n.383T>C c.761T>C (p.Val254Ala) n.357T>C n.981T>C c.341T>C (p.Val114Ala) c.2574-1048T>C (n.2574-1048T>C) c.2867T>C (p.Val956Ala) c.2855T>C (p.Val952Ala) c.2747T>C (p.Val916Ala) c.1985T>C (p.Val662Ala) c.1142T>C (p.Val381Ala) c.1007T>C (p.Val336Ala) c.887T>C (p.Val296Ala) c.2501T>C (p.Val834Ala) c.950T>C (p.Val317Ala) c.896T>C (p.Val299Ala) c.641T>C (p.Val214Ala) c.587T>C (p.Val196Ala) c.714-1048T>C (n.714-1048T>C) n.3254T>C n.3692T>C n.3038T>C n.3352T>C c.*21017T>C (n.*21017T>C) n.3246T>C | gnomAD v4 |
| 11 | g.130880759A>T | CA383457861 | SNX19 | c.2621T>A (p.Val874Glu) c.125T>A (p.Val42Glu) n.178-1048T>A n.383T>A c.761T>A (p.Val254Glu) n.357T>A n.981T>A c.341T>A (p.Val114Glu) c.2574-1048T>A (n.2574-1048T>A) c.2867T>A (p.Val956Glu) c.2855T>A (p.Val952Glu) c.2747T>A (p.Val916Glu) c.1985T>A (p.Val662Glu) c.1142T>A (p.Val381Glu) c.1007T>A (p.Val336Glu) c.887T>A (p.Val296Glu) c.2501T>A (p.Val834Glu) c.950T>A (p.Val317Glu) c.896T>A (p.Val299Glu) c.641T>A (p.Val214Glu) c.587T>A (p.Val196Glu) c.714-1048T>A (n.714-1048T>A) n.3254T>A n.3692T>A n.3038T>A n.3352T>A c.*21017T>A (n.*21017T>A) n.3246T>A | |
| 11 | g.130880760C>A | CA383457862 | SNX19 | c.2620G>T (p.Val874Leu) c.124G>T (p.Val42Leu) n.178-1049G>T n.382G>T c.760G>T (p.Val254Leu) n.356G>T n.980G>T c.340G>T (p.Val114Leu) c.2574-1049G>T (n.2574-1049G>T) c.2866G>T (p.Val956Leu) c.2854G>T (p.Val952Leu) c.2746G>T (p.Val916Leu) c.1984G>T (p.Val662Leu) c.1141G>T (p.Val381Leu) c.1006G>T (p.Val336Leu) c.886G>T (p.Val296Leu) c.2500G>T (p.Val834Leu) c.949G>T (p.Val317Leu) c.895G>T (p.Val299Leu) c.640G>T (p.Val214Leu) c.586G>T (p.Val196Leu) c.714-1049G>T (n.714-1049G>T) n.3253G>T n.3691G>T n.3037G>T n.3351G>T c.*21016G>T (n.*21016G>T) n.3245G>T | dbSNP gnomAD v4 |
| 11 | g.130880760C= | CA2009229910 | SNX19 | c.2620G= (p.Val874=) c.124G= (p.Val42=) n.178-1049G= n.382G= c.760G= (p.Val254=) n.356G= n.980G= c.340G= (p.Val114=) c.2574-1049G= (n.2574-1049G=) c.2866G= (p.Val956=) c.2854G= (p.Val952=) c.2746G= (p.Val916=) c.1984G= (p.Val662=) c.1141G= (p.Val381=) c.1006G= (p.Val336=) c.886G= (p.Val296=) c.2500G= (p.Val834=) c.949G= (p.Val317=) c.895G= (p.Val299=) c.640G= (p.Val214=) c.586G= (p.Val196=) c.714-1049G= (n.714-1049G=) n.3253G= n.3691G= n.3037G= n.3351G= c.*21016G= (n.*21016G=) n.3245G= | |
| 11 | g.130880760C>G | CA383457863 | SNX19 | c.2620G>C (p.Val874Leu) c.124G>C (p.Val42Leu) n.178-1049G>C n.382G>C c.760G>C (p.Val254Leu) n.356G>C n.980G>C c.340G>C (p.Val114Leu) c.2574-1049G>C (n.2574-1049G>C) c.2866G>C (p.Val956Leu) c.2854G>C (p.Val952Leu) c.2746G>C (p.Val916Leu) c.1984G>C (p.Val662Leu) c.1141G>C (p.Val381Leu) c.1006G>C (p.Val336Leu) c.886G>C (p.Val296Leu) c.2500G>C (p.Val834Leu) c.949G>C (p.Val317Leu) c.895G>C (p.Val299Leu) c.640G>C (p.Val214Leu) c.586G>C (p.Val196Leu) c.714-1049G>C (n.714-1049G>C) n.3253G>C n.3691G>C n.3037G>C n.3351G>C c.*21016G>C (n.*21016G>C) n.3245G>C | gnomAD v4 |