| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.48905009G>A | CA516359915 | SLC35A2 | c.900C>T (p.Ala300=) c.355-117C>T (n.355-117C>T) c.427-117C>T (n.427-117C>T) c.462C>T c.984C>T (p.Ala328=) c.939C>T (p.Ala313=) c.424+1383C>T c.717C>T (p.Ala239=) c.*794C>T (n.*794C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48905009G>C | CA516359916 | SLC35A2 | c.900C>G (p.Ala300=) c.355-117C>G (n.355-117C>G) c.427-117C>G (n.427-117C>G) c.462C>G c.984C>G (p.Ala328=) c.939C>G (p.Ala313=) c.424+1383C>G c.717C>G (p.Ala239=) c.*794C>G (n.*794C>G) | |
| X | g.48905009G= | CA2428428846 | SLC35A2 | c.900C= (p.Ala300=) c.355-117C= (n.355-117C=) c.427-117C= (n.427-117C=) c.462C= c.984C= (p.Ala328=) c.939C= (p.Ala313=) c.424+1383C= c.717C= (p.Ala239=) c.*794C= (n.*794C=) | |
| X | g.48905009G>T | CA516359917 | SLC35A2 | c.900C>A (p.Ala300=) c.355-117C>A (n.355-117C>A) c.427-117C>A (n.427-117C>A) c.462C>A c.984C>A (p.Ala328=) c.939C>A (p.Ala313=) c.424+1383C>A c.717C>A (p.Ala239=) c.*794C>A (n.*794C>A) | |
| X | g.48905010G>A | CA412894901 | SLC35A2 | c.899C>T (p.Ala300Val) c.355-118C>T (n.355-118C>T) c.427-118C>T (n.427-118C>T) c.461C>T c.983C>T (p.Ala328Val) c.938C>T (p.Ala313Val) c.424+1382C>T c.716C>T (p.Ala239Val) c.*793C>T (n.*793C>T) | dbSNP |
| X | g.48905010G>C | CA412894902 | SLC35A2 | c.899C>G (p.Ala300Gly) c.355-118C>G (n.355-118C>G) c.427-118C>G (n.427-118C>G) c.461C>G c.983C>G (p.Ala328Gly) c.938C>G (p.Ala313Gly) c.424+1382C>G c.716C>G (p.Ala239Gly) c.*793C>G (n.*793C>G) | |
| X | g.48905010G= | CA2428428847 | SLC35A2 | c.899C= (p.Ala300=) c.355-118C= (n.355-118C=) c.427-118C= (n.427-118C=) c.461C= c.983C= (p.Ala328=) c.938C= (p.Ala313=) c.424+1382C= c.716C= (p.Ala239=) c.*793C= (n.*793C=) | |
| X | g.48905010G>T | CA412894904 | SLC35A2 | c.899C>A (p.Ala300Asp) c.355-118C>A (n.355-118C>A) c.427-118C>A (n.427-118C>A) c.461C>A c.983C>A (p.Ala328Asp) c.938C>A (p.Ala313Asp) c.424+1382C>A c.716C>A (p.Ala239Asp) c.*793C>A (n.*793C>A) | |
| X | g.48905011C>A | CA412894906 | SLC35A2 | c.898G>T (p.Ala300Ser) c.355-119G>T (n.355-119G>T) c.427-119G>T (n.427-119G>T) c.460G>T c.982G>T (p.Ala328Ser) c.937G>T (p.Ala313Ser) c.424+1381G>T c.715G>T (p.Ala239Ser) c.*792G>T (n.*792G>T) | |
| X | g.48905011C>G | CA412894907 | SLC35A2 | c.898G>C (p.Ala300Pro) c.355-119G>C (n.355-119G>C) c.427-119G>C (n.427-119G>C) c.460G>C c.982G>C (p.Ala328Pro) c.937G>C (p.Ala313Pro) c.424+1381G>C c.715G>C (p.Ala239Pro) c.*792G>C (n.*792G>C) | |
| X | g.48905011C>T | CA412894909 | SLC35A2 | c.898G>A (p.Ala300Thr) c.355-119G>A (n.355-119G>A) c.427-119G>A (n.427-119G>A) c.460G>A c.982G>A (p.Ala328Thr) c.937G>A (p.Ala313Thr) c.424+1381G>A c.715G>A (p.Ala239Thr) c.*792G>A (n.*792G>A) | |
| X | g.48905012A>C | CA412894913 | SLC35A2 | c.897T>G (p.Phe299Leu) c.355-120T>G (n.355-120T>G) c.427-120T>G (n.427-120T>G) c.459T>G c.981T>G (p.Phe327Leu) c.936T>G (p.Phe312Leu) c.424+1380T>G c.714T>G (p.Phe238Leu) c.*791T>G (n.*791T>G) | |
| X | g.48905012A>G | CA516359918 | SLC35A2 | c.897T>C (p.Phe299=) c.355-120T>C (n.355-120T>C) c.427-120T>C (n.427-120T>C) c.459T>C c.981T>C (p.Phe327=) c.936T>C (p.Phe312=) c.424+1380T>C c.714T>C (p.Phe238=) c.*791T>C (n.*791T>C) | |
| X | g.48905012A>T | CA412894912 | SLC35A2 | c.897T>A (p.Phe299Leu) c.355-120T>A (n.355-120T>A) c.427-120T>A (n.427-120T>A) c.459T>A c.981T>A (p.Phe327Leu) c.936T>A (p.Phe312Leu) c.424+1380T>A c.714T>A (p.Phe238Leu) c.*791T>A (n.*791T>A) | |
| X | g.48905013A>C | CA412894915 | SLC35A2 | c.896T>G (p.Phe299Cys) c.355-121T>G (n.355-121T>G) c.427-121T>G (n.427-121T>G) c.458T>G c.980T>G (p.Phe327Cys) c.935T>G (p.Phe312Cys) c.424+1379T>G c.713T>G (p.Phe238Cys) c.*790T>G (n.*790T>G) | |
| X | g.48905013A>G | CA412894926 | SLC35A2 | c.896T>C (p.Phe299Ser) c.355-121T>C (n.355-121T>C) c.427-121T>C (n.427-121T>C) c.458T>C c.980T>C (p.Phe327Ser) c.935T>C (p.Phe312Ser) c.424+1379T>C c.713T>C (p.Phe238Ser) c.*790T>C (n.*790T>C) | |
| X | g.48905013A>T | CA412894927 | SLC35A2 | c.896T>A (p.Phe299Tyr) c.355-121T>A (n.355-121T>A) c.427-121T>A (n.427-121T>A) c.458T>A c.980T>A (p.Phe327Tyr) c.935T>A (p.Phe312Tyr) c.424+1379T>A c.713T>A (p.Phe238Tyr) c.*790T>A (n.*790T>A) | |
| X | g.48905014A>C | CA412894929 | SLC35A2 | c.895T>G (p.Phe299Val) c.355-122T>G (n.355-122T>G) c.427-122T>G (n.427-122T>G) c.457T>G c.979T>G (p.Phe327Val) c.934T>G (p.Phe312Val) c.424+1378T>G c.712T>G (p.Phe238Val) c.*789T>G (n.*789T>G) | |
| X | g.48905014A>G | CA412894931 | SLC35A2 | c.895T>C (p.Phe299Leu) c.355-122T>C (n.355-122T>C) c.427-122T>C (n.427-122T>C) c.457T>C c.979T>C (p.Phe327Leu) c.934T>C (p.Phe312Leu) c.424+1378T>C c.712T>C (p.Phe238Leu) c.*789T>C (n.*789T>C) | |
| X | g.48905014A>T | CA412894932 | SLC35A2 | c.895T>A (p.Phe299Ile) c.355-122T>A (n.355-122T>A) c.427-122T>A (n.427-122T>A) c.457T>A c.979T>A (p.Phe327Ile) c.934T>A (p.Phe312Ile) c.424+1378T>A c.712T>A (p.Phe238Ile) c.*789T>A (n.*789T>A) | |
| X | g.48905015G>A | CA516359920 | SLC35A2 | c.894C>T (p.Gly298=) c.355-123C>T (n.355-123C>T) c.427-123C>T (n.427-123C>T) c.456C>T c.978C>T (p.Gly326=) c.933C>T (p.Gly311=) c.424+1377C>T c.711C>T (p.Gly237=) c.*788C>T (n.*788C>T) | |
| X | g.48905015G>C | CA516359922 | SLC35A2 | c.894C>G (p.Gly298=) c.355-123C>G (n.355-123C>G) c.427-123C>G (n.427-123C>G) c.456C>G c.978C>G (p.Gly326=) c.933C>G (p.Gly311=) c.424+1377C>G c.711C>G (p.Gly237=) c.*788C>G (n.*788C>G) | |
| X | g.48905015G>T | CA516359921 | SLC35A2 | c.894C>A (p.Gly298=) c.355-123C>A (n.355-123C>A) c.427-123C>A (n.427-123C>A) c.456C>A c.978C>A (p.Gly326=) c.933C>A (p.Gly311=) c.424+1377C>A c.711C>A (p.Gly237=) c.*788C>A (n.*788C>A) | |
| X | g.48905016C>A | CA412894933 | SLC35A2 | c.893G>T (p.Gly298Val) c.355-124G>T (n.355-124G>T) c.427-124G>T (n.427-124G>T) c.455G>T c.977G>T (p.Gly326Val) c.932G>T (p.Gly311Val) c.424+1376G>T c.710G>T (p.Gly237Val) c.*787G>T (n.*787G>T) | |
| X | g.48905016C>G | CA412894935 | SLC35A2 | c.893G>C (p.Gly298Ala) c.355-124G>C (n.355-124G>C) c.427-124G>C (n.427-124G>C) c.455G>C c.977G>C (p.Gly326Ala) c.932G>C (p.Gly311Ala) c.424+1376G>C c.710G>C (p.Gly237Ala) c.*787G>C (n.*787G>C) | |
| X | g.48905016C>T | CA412894934 | SLC35A2 | c.893G>A (p.Gly298Asp) c.355-124G>A (n.355-124G>A) c.427-124G>A (n.427-124G>A) c.455G>A c.977G>A (p.Gly326Asp) c.932G>A (p.Gly311Asp) c.424+1376G>A c.710G>A (p.Gly237Asp) c.*787G>A (n.*787G>A) | |
| X | g.48905017C>A | CA412894938 | SLC35A2 | c.892G>T (p.Gly298Cys) c.355-125G>T (n.355-125G>T) c.427-125G>T (n.427-125G>T) c.454G>T c.976G>T (p.Gly326Cys) c.931G>T (p.Gly311Cys) c.424+1375G>T c.709G>T (p.Gly237Cys) c.*786G>T (n.*786G>T) | gnomAD v4 |
| X | g.48905017C>G | CA412894940 | SLC35A2 | c.892G>C (p.Gly298Arg) c.355-125G>C (n.355-125G>C) c.427-125G>C (n.427-125G>C) c.454G>C c.976G>C (p.Gly326Arg) c.931G>C (p.Gly311Arg) c.424+1375G>C c.709G>C (p.Gly237Arg) c.*786G>C (n.*786G>C) | |
| X | g.48905017C>T | CA412894942 | SLC35A2 | c.892G>A (p.Gly298Ser) c.355-125G>A (n.355-125G>A) c.427-125G>A (n.427-125G>A) c.454G>A c.976G>A (p.Gly326Ser) c.931G>A (p.Gly311Ser) c.424+1375G>A c.709G>A (p.Gly237Ser) c.*786G>A (n.*786G>A) | |
| X | g.48905018C>A | CA412894944 | SLC35A2 | c.891G>T (p.Lys297Asn) c.355-126G>T (n.355-126G>T) c.427-126G>T (n.427-126G>T) c.453G>T c.975G>T (p.Lys325Asn) c.930G>T (p.Lys310Asn) c.424+1374G>T c.708G>T (p.Lys236Asn) c.*785G>T (n.*785G>T) | |
| X | g.48905018C>G | CA412894946 | SLC35A2 | c.891G>C (p.Lys297Asn) c.355-126G>C (n.355-126G>C) c.427-126G>C (n.427-126G>C) c.453G>C c.975G>C (p.Lys325Asn) c.930G>C (p.Lys310Asn) c.424+1374G>C c.708G>C (p.Lys236Asn) c.*785G>C (n.*785G>C) | |
| X | g.48905018C>T | CA516359923 | SLC35A2 | c.891G>A (p.Lys297=) c.355-126G>A (n.355-126G>A) c.427-126G>A (n.427-126G>A) c.453G>A c.975G>A (p.Lys325=) c.930G>A (p.Lys310=) c.424+1374G>A c.708G>A (p.Lys236=) c.*785G>A (n.*785G>A) | gnomAD v4 |
| X | g.48905019T>A | CA412894947 | SLC35A2 | c.890A>T (p.Lys297Met) c.355-127A>T (n.355-127A>T) c.427-127A>T (n.427-127A>T) c.452A>T c.974A>T (p.Lys325Met) c.929A>T (p.Lys310Met) c.424+1373A>T c.707A>T (p.Lys236Met) c.*784A>T (n.*784A>T) | |
| X | g.48905019T>C | CA412894948 | SLC35A2 | c.890A>G (p.Lys297Arg) c.355-127A>G (n.355-127A>G) c.427-127A>G (n.427-127A>G) c.452A>G c.974A>G (p.Lys325Arg) c.929A>G (p.Lys310Arg) c.424+1373A>G c.707A>G (p.Lys236Arg) c.*784A>G (n.*784A>G) | |
| X | g.48905019T>G | CA412894950 | SLC35A2 | c.890A>C (p.Lys297Thr) c.355-127A>C (n.355-127A>C) c.427-127A>C (n.427-127A>C) c.452A>C c.974A>C (p.Lys325Thr) c.929A>C (p.Lys310Thr) c.424+1373A>C c.707A>C (p.Lys236Thr) c.*784A>C (n.*784A>C) | |
| X | g.48905020T>A | CA412894953 | SLC35A2 | c.889A>T (p.Lys297Ter) c.355-128A>T (n.355-128A>T) c.427-128A>T (n.427-128A>T) c.451A>T c.973A>T (p.Lys325Ter) c.928A>T (p.Lys310Ter) c.424+1372A>T c.706A>T (p.Lys236Ter) c.*783A>T (n.*783A>T) | |
| X | g.48905020T>C | CA412894954 | SLC35A2 | c.889A>G (p.Lys297Glu) c.355-128A>G (n.355-128A>G) c.427-128A>G (n.427-128A>G) c.451A>G c.973A>G (p.Lys325Glu) c.928A>G (p.Lys310Glu) c.424+1372A>G c.706A>G (p.Lys236Glu) c.*783A>G (n.*783A>G) | |
| X | g.48905020T>G | CA412894956 | SLC35A2 | c.889A>C (p.Lys297Gln) c.355-128A>C (n.355-128A>C) c.427-128A>C (n.427-128A>C) c.451A>C c.973A>C (p.Lys325Gln) c.928A>C (p.Lys310Gln) c.424+1372A>C c.706A>C (p.Lys236Gln) c.*783A>C (n.*783A>C) | |
| X | g.48905021G>A | CA516359924 | SLC35A2 | c.888C>T (p.Leu296=) c.355-129C>T (n.355-129C>T) c.427-129C>T (n.427-129C>T) c.450C>T c.972C>T (p.Leu324=) c.927C>T (p.Leu309=) c.424+1371C>T c.705C>T (p.Leu235=) c.*782C>T (n.*782C>T) | |
| X | g.48905021G>C | CA516359925 | SLC35A2 | c.888C>G (p.Leu296=) c.355-129C>G (n.355-129C>G) c.427-129C>G (n.427-129C>G) c.450C>G c.972C>G (p.Leu324=) c.927C>G (p.Leu309=) c.424+1371C>G c.705C>G (p.Leu235=) c.*782C>G (n.*782C>G) | dbSNP gnomAD v4 |
| X | g.48905021G= | CA2428428848 | SLC35A2 | c.888C= (p.Leu296=) c.355-129C= (n.355-129C=) c.427-129C= (n.427-129C=) c.450C= c.972C= (p.Leu324=) c.927C= (p.Leu309=) c.424+1371C= c.705C= (p.Leu235=) c.*782C= (n.*782C=) | |
| X | g.48905021G>T | CA516359926 | SLC35A2 | c.888C>A (p.Leu296=) c.355-129C>A (n.355-129C>A) c.427-129C>A (n.427-129C>A) c.450C>A c.972C>A (p.Leu324=) c.927C>A (p.Leu309=) c.424+1371C>A c.705C>A (p.Leu235=) c.*782C>A (n.*782C>A) | |
| X | g.48905022A>C | CA412894962 | SLC35A2 | c.887T>G (p.Leu296Arg) c.355-130T>G (n.355-130T>G) c.427-130T>G (n.427-130T>G) c.449T>G c.971T>G (p.Leu324Arg) c.926T>G (p.Leu309Arg) c.424+1370T>G c.704T>G (p.Leu235Arg) c.*781T>G (n.*781T>G) | |
| X | g.48905022A>G | CA412894960 | SLC35A2 | c.887T>C (p.Leu296Pro) c.355-130T>C (n.355-130T>C) c.427-130T>C (n.427-130T>C) c.449T>C c.971T>C (p.Leu324Pro) c.926T>C (p.Leu309Pro) c.424+1370T>C c.704T>C (p.Leu235Pro) c.*781T>C (n.*781T>C) | |
| X | g.48905022A>T | CA412894959 | SLC35A2 | c.887T>A (p.Leu296His) c.355-130T>A (n.355-130T>A) c.427-130T>A (n.427-130T>A) c.449T>A c.971T>A (p.Leu324His) c.926T>A (p.Leu309His) c.424+1370T>A c.704T>A (p.Leu235His) c.*781T>A (n.*781T>A) | |
| X | g.48905023G>A | CA412894964 | SLC35A2 | c.886C>T (p.Leu296Phe) c.355-131C>T (n.355-131C>T) c.427-131C>T (n.427-131C>T) c.448C>T c.970C>T (p.Leu324Phe) c.925C>T (p.Leu309Phe) c.424+1369C>T c.703C>T (p.Leu235Phe) c.*780C>T (n.*780C>T) | |
| X | g.48905023G>C | CA412894967 | SLC35A2 | c.886C>G (p.Leu296Val) c.355-131C>G (n.355-131C>G) c.427-131C>G (n.427-131C>G) c.448C>G c.970C>G (p.Leu324Val) c.925C>G (p.Leu309Val) c.424+1369C>G c.703C>G (p.Leu235Val) c.*780C>G (n.*780C>G) | |
| X | g.48905023G>T | CA412894966 | SLC35A2 | c.886C>A (p.Leu296Ile) c.355-131C>A (n.355-131C>A) c.427-131C>A (n.427-131C>A) c.448C>A c.970C>A (p.Leu324Ile) c.925C>A (p.Leu309Ile) c.424+1369C>A c.703C>A (p.Leu235Ile) c.*780C>A (n.*780C>A) | gnomAD v4 |
| X | g.48905024G>A | CA516359927 | SLC35A2 | c.885C>T (p.Ile295=) c.355-132C>T (n.355-132C>T) c.427-132C>T (n.427-132C>T) c.447C>T c.969C>T (p.Ile323=) c.924C>T (p.Ile308=) c.424+1368C>T c.702C>T (p.Ile234=) c.*779C>T (n.*779C>T) | |
| X | g.48905024G>C | CA412894969 | SLC35A2 | c.885C>G (p.Ile295Met) c.355-132C>G (n.355-132C>G) c.427-132C>G (n.427-132C>G) c.447C>G c.969C>G (p.Ile323Met) c.924C>G (p.Ile308Met) c.424+1368C>G c.702C>G (p.Ile234Met) c.*779C>G (n.*779C>G) |