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 |
|---|---|---|---|---|---|
| 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) | |
| X | g.48905024G>T | CA516359928 | SLC35A2 | c.885C>A (p.Ile295=) c.355-132C>A (n.355-132C>A) c.427-132C>A (n.427-132C>A) c.447C>A c.969C>A (p.Ile323=) c.924C>A (p.Ile308=) c.424+1368C>A c.702C>A (p.Ile234=) c.*779C>A (n.*779C>A) | |
| X | g.48905025A>C | CA412894973 | SLC35A2 | c.884T>G (p.Ile295Ser) c.355-133T>G (n.355-133T>G) c.427-133T>G (n.427-133T>G) c.446T>G c.968T>G (p.Ile323Ser) c.923T>G (p.Ile308Ser) c.424+1367T>G c.701T>G (p.Ile234Ser) c.*778T>G (n.*778T>G) | |
| X | g.48905025A>G | CA412894975 | SLC35A2 | c.884T>C (p.Ile295Thr) c.355-133T>C (n.355-133T>C) c.427-133T>C (n.427-133T>C) c.446T>C c.968T>C (p.Ile323Thr) c.923T>C (p.Ile308Thr) c.424+1367T>C c.701T>C (p.Ile234Thr) c.*778T>C (n.*778T>C) | |
| X | g.48905025A>T | CA412894978 | SLC35A2 | c.884T>A (p.Ile295Asn) c.355-133T>A (n.355-133T>A) c.427-133T>A (n.427-133T>A) c.446T>A c.968T>A (p.Ile323Asn) c.923T>A (p.Ile308Asn) c.424+1367T>A c.701T>A (p.Ile234Asn) c.*778T>A (n.*778T>A) | |
| X | g.48905026T>A | CA412894983 | SLC35A2 | c.883A>T (p.Ile295Phe) c.355-134A>T (n.355-134A>T) c.427-134A>T (n.427-134A>T) c.445A>T c.967A>T (p.Ile323Phe) c.922A>T (p.Ile308Phe) c.424+1366A>T c.700A>T (p.Ile234Phe) c.*777A>T (n.*777A>T) | |
| X | g.48905026T>C | CA412894985 | SLC35A2 | c.883A>G (p.Ile295Val) c.355-134A>G (n.355-134A>G) c.427-134A>G (n.427-134A>G) c.445A>G c.967A>G (p.Ile323Val) c.922A>G (p.Ile308Val) c.424+1366A>G c.700A>G (p.Ile234Val) c.*777A>G (n.*777A>G) | |
| X | g.48905026T>G | CA412894987 | SLC35A2 | c.883A>C (p.Ile295Leu) c.355-134A>C (n.355-134A>C) c.427-134A>C (n.427-134A>C) c.445A>C c.967A>C (p.Ile323Leu) c.922A>C (p.Ile308Leu) c.424+1366A>C c.700A>C (p.Ile234Leu) c.*777A>C (n.*777A>C) | |
| X | g.48905027A>C | CA412894990 | SLC35A2 | c.882T>G (p.Asn294Lys) c.355-135T>G (n.355-135T>G) c.427-135T>G (n.427-135T>G) c.444T>G c.966T>G (p.Asn322Lys) c.921T>G (p.Asn307Lys) c.424+1365T>G c.699T>G (p.Asn233Lys) c.*776T>G (n.*776T>G) | |
| X | g.48905027A>G | CA516359929 | SLC35A2 | c.882T>C (p.Asn294=) c.355-135T>C (n.355-135T>C) c.427-135T>C (n.427-135T>C) c.444T>C c.966T>C (p.Asn322=) c.921T>C (p.Asn307=) c.424+1365T>C c.699T>C (p.Asn233=) c.*776T>C (n.*776T>C) | |
| X | g.48905027A>T | CA412894992 | SLC35A2 | c.882T>A (p.Asn294Lys) c.355-135T>A (n.355-135T>A) c.427-135T>A (n.427-135T>A) c.444T>A c.966T>A (p.Asn322Lys) c.921T>A (p.Asn307Lys) c.424+1365T>A c.699T>A (p.Asn233Lys) c.*776T>A (n.*776T>A) | |
| X | g.48905028T>A | CA412894995 | SLC35A2 | c.881A>T (p.Asn294Ile) c.355-136A>T (n.355-136A>T) c.427-136A>T (n.427-136A>T) c.443A>T c.965A>T (p.Asn322Ile) c.920A>T (p.Asn307Ile) c.424+1364A>T c.698A>T (p.Asn233Ile) c.*775A>T (n.*775A>T) | |
| X | g.48905028T>C | CA412894997 | SLC35A2 | c.881A>G (p.Asn294Ser) c.355-136A>G (n.355-136A>G) c.427-136A>G (n.427-136A>G) c.443A>G c.965A>G (p.Asn322Ser) c.920A>G (p.Asn307Ser) c.424+1364A>G c.698A>G (p.Asn233Ser) c.*775A>G (n.*775A>G) | ClinVar dbSNP gnomAD v4 |
| X | g.48905028T>G | CA412894998 | SLC35A2 | c.881A>C (p.Asn294Thr) c.355-136A>C (n.355-136A>C) c.427-136A>C (n.427-136A>C) c.443A>C c.965A>C (p.Asn322Thr) c.920A>C (p.Asn307Thr) c.424+1364A>C c.698A>C (p.Asn233Thr) c.*775A>C (n.*775A>C) | |
| X | g.48905028T= | CA2428428849 | SLC35A2 | c.881A= (p.Asn294=) c.355-136A= (n.355-136A=) c.427-136A= (n.427-136A=) c.443A= c.965A= (p.Asn322=) c.920A= (p.Asn307=) c.424+1364A= c.698A= (p.Asn233=) c.*775A= (n.*775A=) | |
| X | g.48905029T>A | CA412895001 | SLC35A2 | c.880A>T (p.Asn294Tyr) c.355-137A>T (n.355-137A>T) c.427-137A>T (n.427-137A>T) c.442A>T c.964A>T (p.Asn322Tyr) c.919A>T (p.Asn307Tyr) c.424+1363A>T c.697A>T (p.Asn233Tyr) c.*774A>T (n.*774A>T) | |
| X | g.48905029T>C | CA412894999 | SLC35A2 | c.880A>G (p.Asn294Asp) c.355-137A>G (n.355-137A>G) c.427-137A>G (n.427-137A>G) c.442A>G c.964A>G (p.Asn322Asp) c.919A>G (p.Asn307Asp) c.424+1363A>G c.697A>G (p.Asn233Asp) c.*774A>G (n.*774A>G) | |
| X | g.48905029T>G | CA412895000 | SLC35A2 | c.880A>C (p.Asn294His) c.355-137A>C (n.355-137A>C) c.427-137A>C (n.427-137A>C) c.442A>C c.964A>C (p.Asn322His) c.919A>C (p.Asn307His) c.424+1363A>C c.697A>C (p.Asn233His) c.*774A>C (n.*774A>C) | |
| X | g.48905030G>A | CA516359930 | SLC35A2 | c.879C>T (p.Asp293=) c.355-138C>T (n.355-138C>T) c.427-138C>T (n.427-138C>T) c.441C>T c.963C>T (p.Asp321=) c.918C>T (p.Asp306=) c.424+1362C>T c.696C>T (p.Asp232=) c.*773C>T (n.*773C>T) | dbSNP |
| X | g.48905030G>C | CA412895002 | SLC35A2 | c.879C>G (p.Asp293Glu) c.355-138C>G (n.355-138C>G) c.427-138C>G (n.427-138C>G) c.441C>G c.963C>G (p.Asp321Glu) c.918C>G (p.Asp306Glu) c.424+1362C>G c.696C>G (p.Asp232Glu) c.*773C>G (n.*773C>G) | |
| X | g.48905030G= | CA2428428850 | SLC35A2 | c.879C= (p.Asp293=) c.355-138C= (n.355-138C=) c.427-138C= (n.427-138C=) c.441C= c.963C= (p.Asp321=) c.918C= (p.Asp306=) c.424+1362C= c.696C= (p.Asp232=) c.*773C= (n.*773C=) | |
| X | g.48905030G>T | CA412895004 | SLC35A2 | c.879C>A (p.Asp293Glu) c.355-138C>A (n.355-138C>A) c.427-138C>A (n.427-138C>A) c.441C>A c.963C>A (p.Asp321Glu) c.918C>A (p.Asp306Glu) c.424+1362C>A c.696C>A (p.Asp232Glu) c.*773C>A (n.*773C>A) | |
| X | g.48905031T>A | CA412895007 | SLC35A2 | c.878A>T (p.Asp293Val) c.355-139A>T (n.355-139A>T) c.427-139A>T (n.427-139A>T) c.440A>T c.962A>T (p.Asp321Val) c.917A>T (p.Asp306Val) c.424+1361A>T c.695A>T (p.Asp232Val) c.*772A>T (n.*772A>T) | |
| X | g.48905031T>C | CA412895009 | SLC35A2 | c.878A>G (p.Asp293Gly) c.355-139A>G (n.355-139A>G) c.427-139A>G (n.427-139A>G) c.440A>G c.962A>G (p.Asp321Gly) c.917A>G (p.Asp306Gly) c.424+1361A>G c.695A>G (p.Asp232Gly) c.*772A>G (n.*772A>G) | |
| X | g.48905031T>G | CA412895011 | SLC35A2 | c.878A>C (p.Asp293Ala) c.355-139A>C (n.355-139A>C) c.427-139A>C (n.427-139A>C) c.440A>C c.962A>C (p.Asp321Ala) c.917A>C (p.Asp306Ala) c.424+1361A>C c.695A>C (p.Asp232Ala) c.*772A>C (n.*772A>C) | |
| X | g.48905032C>A | CA412895014 | SLC35A2 | c.877G>T (p.Asp293Tyr) c.355-140G>T (n.355-140G>T) c.427-140G>T (n.427-140G>T) c.439G>T c.961G>T (p.Asp321Tyr) c.916G>T (p.Asp306Tyr) c.424+1360G>T c.694G>T (p.Asp232Tyr) c.*771G>T (n.*771G>T) | |
| X | g.48905032C>G | CA412895016 | SLC35A2 | c.877G>C (p.Asp293His) c.355-140G>C (n.355-140G>C) c.427-140G>C (n.427-140G>C) c.439G>C c.961G>C (p.Asp321His) c.916G>C (p.Asp306His) c.424+1360G>C c.694G>C (p.Asp232His) c.*771G>C (n.*771G>C) | |
| X | g.48905032C>T | CA412895018 | SLC35A2 | c.877G>A (p.Asp293Asn) c.355-140G>A (n.355-140G>A) c.427-140G>A (n.427-140G>A) c.439G>A c.961G>A (p.Asp321Asn) c.916G>A (p.Asp306Asn) c.424+1360G>A c.694G>A (p.Asp232Asn) c.*771G>A (n.*771G>A) | |
| X | g.48905032_48905033insTACCTTAGGATAAATATCATCACTCAGATAGGTCGTATCTACACGAGGATAAGTCGTCAGTTTACGTTCGTAAAGTGTCTGTATCGTAGCCAAAGTTTCTTCGGCAGACATAGCAAACTTCTTATTACA | CA2553408221 | SLC35A2 | c.876_877insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA (p.Ala292_Asp293insCysAsnLysLysPheAlaMetSerAlaGluGluThrLeuAlaThrIleGlnThrLeuTyrGluArgLysLeuThrThrTyrProArgValAspThrThrTyrLeuSerAspAspIleTyrProLysVal) c.355-141_355-140insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA (n.355-141_355-140insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA) c.427-141_427-140insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA (n.427-141_427-140insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA) c.438_439insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA c.960_961insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA (p.Ala320_Asp321insCysAsnLysLysPheAlaMetSerAlaGluGluThrLeuAlaThrIleGlnThrLeuTyrGluArgLysLeuThrThrTyrProArgValAspThrThrTyrLeuSerAspAspIleTyrProLysVal) c.915_916insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA (p.Ala305_Asp306insCysAsnLysLysPheAlaMetSerAlaGluGluThrLeuAlaThrIleGlnThrLeuTyrGluArgLysLeuThrThrTyrProArgValAspThrThrTyrLeuSerAspAspIleTyrProLysVal) c.424+1359_424+1360insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA c.693_694insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA (p.Ala231_Asp232insCysAsnLysLysPheAlaMetSerAlaGluGluThrLeuAlaThrIleGlnThrLeuTyrGluArgLysLeuThrThrTyrProArgValAspThrThrTyrLeuSerAspAspIleTyrProLysVal) c.*770_*771insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA (n.*770_*771insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA) | |
| X | g.48905033A>C | CA516359931 | SLC35A2 | c.876T>G (p.Ala292=) c.355-141T>G (n.355-141T>G) c.427-141T>G (n.427-141T>G) c.438T>G c.960T>G (p.Ala320=) c.915T>G (p.Ala305=) c.424+1359T>G c.693T>G (p.Ala231=) c.*770T>G (n.*770T>G) | |
| X | g.48905033A>G | CA516359932 | SLC35A2 | c.876T>C (p.Ala292=) c.355-141T>C (n.355-141T>C) c.427-141T>C (n.427-141T>C) c.438T>C c.960T>C (p.Ala320=) c.915T>C (p.Ala305=) c.424+1359T>C c.693T>C (p.Ala231=) c.*770T>C (n.*770T>C) | |
| X | g.48905033A>T | CA516359933 | SLC35A2 | c.876T>A (p.Ala292=) c.355-141T>A (n.355-141T>A) c.427-141T>A (n.427-141T>A) c.438T>A c.960T>A (p.Ala320=) c.915T>A (p.Ala305=) c.424+1359T>A c.693T>A (p.Ala231=) c.*770T>A (n.*770T>A) | |
| X | g.48905034G>A | CA412895020 | SLC35A2 | c.875C>T (p.Ala292Val) c.355-142C>T (n.355-142C>T) c.427-142C>T (n.427-142C>T) c.437C>T c.959C>T (p.Ala320Val) c.914C>T (p.Ala305Val) c.424+1358C>T c.692C>T (p.Ala231Val) c.*769C>T (n.*769C>T) | |
| X | g.48905034G>C | CA412895021 | SLC35A2 | c.875C>G (p.Ala292Gly) c.355-142C>G (n.355-142C>G) c.427-142C>G (n.427-142C>G) c.437C>G c.959C>G (p.Ala320Gly) c.914C>G (p.Ala305Gly) c.424+1358C>G c.692C>G (p.Ala231Gly) c.*769C>G (n.*769C>G) | |
| X | g.48905034G>T | CA412895023 | SLC35A2 | c.875C>A (p.Ala292Asp) c.355-142C>A (n.355-142C>A) c.427-142C>A (n.427-142C>A) c.437C>A c.959C>A (p.Ala320Asp) c.914C>A (p.Ala305Asp) c.424+1358C>A c.692C>A (p.Ala231Asp) c.*769C>A (n.*769C>A) | |
| X | g.48905035C>A | CA412895030 | SLC35A2 | c.874G>T (p.Ala292Ser) c.355-143G>T (n.355-143G>T) c.427-143G>T (n.427-143G>T) c.436G>T c.958G>T (p.Ala320Ser) c.913G>T (p.Ala305Ser) c.424+1357G>T c.691G>T (p.Ala231Ser) c.*768G>T (n.*768G>T) | gnomAD v4 |
| X | g.48905035C= | CA2428428851 | SLC35A2 | c.874G= (p.Ala292=) c.355-143G= (n.355-143G=) c.427-143G= (n.427-143G=) c.436G= c.958G= (p.Ala320=) c.913G= (p.Ala305=) c.424+1357G= c.691G= (p.Ala231=) c.*768G= (n.*768G=) | |
| X | g.48905035C>G | CA412895028 | SLC35A2 | c.874G>C (p.Ala292Pro) c.355-143G>C (n.355-143G>C) c.427-143G>C (n.427-143G>C) c.436G>C c.958G>C (p.Ala320Pro) c.913G>C (p.Ala305Pro) c.424+1357G>C c.691G>C (p.Ala231Pro) c.*768G>C (n.*768G>C) | |
| X | g.48905035C>T | CA10406086 | SLC35A2 | c.874G>A (p.Ala292Thr) c.355-143G>A (n.355-143G>A) c.427-143G>A (n.427-143G>A) c.436G>A c.958G>A (p.Ala320Thr) c.913G>A (p.Ala305Thr) c.424+1357G>A c.691G>A (p.Ala231Thr) c.*768G>A (n.*768G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48905036G>A | CA10406087 | SLC35A2 | c.873C>T (p.Tyr291=) c.355-144C>T (n.355-144C>T) c.427-144C>T (n.427-144C>T) c.435C>T c.957C>T (p.Tyr319=) c.912C>T (p.Tyr304=) c.424+1356C>T c.690C>T (p.Tyr230=) c.*767C>T (n.*767C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48905036G>C | CA412895032 | SLC35A2 | c.873C>G (p.Tyr291Ter) c.355-144C>G (n.355-144C>G) c.427-144C>G (n.427-144C>G) c.435C>G c.957C>G (p.Tyr319Ter) c.912C>G (p.Tyr304Ter) c.424+1356C>G c.690C>G (p.Tyr230Ter) c.*767C>G (n.*767C>G) | |
| X | g.48905036G= | CA2428428852 | SLC35A2 | c.873C= (p.Tyr291=) c.355-144C= (n.355-144C=) c.427-144C= (n.427-144C=) c.435C= c.957C= (p.Tyr319=) c.912C= (p.Tyr304=) c.424+1356C= c.690C= (p.Tyr230=) c.*767C= (n.*767C=) | |
| X | g.48905036G>T | CA412895034 | SLC35A2 | c.873C>A (p.Tyr291Ter) c.355-144C>A (n.355-144C>A) c.427-144C>A (n.427-144C>A) c.435C>A c.957C>A (p.Tyr319Ter) c.912C>A (p.Tyr304Ter) c.424+1356C>A c.690C>A (p.Tyr230Ter) c.*767C>A (n.*767C>A) | |
| X | g.48905037T>A | CA412895036 | SLC35A2 | c.872A>T (p.Tyr291Phe) c.355-145A>T (n.355-145A>T) c.427-145A>T (n.427-145A>T) c.434A>T c.956A>T (p.Tyr319Phe) c.911A>T (p.Tyr304Phe) c.424+1355A>T c.689A>T (p.Tyr230Phe) c.*766A>T (n.*766A>T) | |
| X | g.48905037T>C | CA412895037 | SLC35A2 | c.872A>G (p.Tyr291Cys) c.355-145A>G (n.355-145A>G) c.427-145A>G (n.427-145A>G) c.434A>G c.956A>G (p.Tyr319Cys) c.911A>G (p.Tyr304Cys) c.424+1355A>G c.689A>G (p.Tyr230Cys) c.*766A>G (n.*766A>G) | |
| X | g.48905037T>G | CA412895038 | SLC35A2 | c.872A>C (p.Tyr291Ser) c.355-145A>C (n.355-145A>C) c.427-145A>C (n.427-145A>C) c.434A>C c.956A>C (p.Tyr319Ser) c.911A>C (p.Tyr304Ser) c.424+1355A>C c.689A>C (p.Tyr230Ser) c.*766A>C (n.*766A>C) | |
| X | g.48905038A>C | CA412895039 | SLC35A2 | c.871T>G (p.Tyr291Asp) c.355-146T>G (n.355-146T>G) c.427-146T>G (n.427-146T>G) c.433T>G c.955T>G (p.Tyr319Asp) c.910T>G (p.Tyr304Asp) c.424+1354T>G c.688T>G (p.Tyr230Asp) c.*765T>G (n.*765T>G) | |
| X | g.48905038A>G | CA412895040 | SLC35A2 | c.871T>C (p.Tyr291His) c.355-146T>C (n.355-146T>C) c.427-146T>C (n.427-146T>C) c.433T>C c.955T>C (p.Tyr319His) c.910T>C (p.Tyr304His) c.424+1354T>C c.688T>C (p.Tyr230His) c.*765T>C (n.*765T>C) | |
| X | g.48905038A>T | CA412895041 | SLC35A2 | c.871T>A (p.Tyr291Asn) c.355-146T>A (n.355-146T>A) c.427-146T>A (n.427-146T>A) c.433T>A c.955T>A (p.Tyr319Asn) c.910T>A (p.Tyr304Asn) c.424+1354T>A c.688T>A (p.Tyr230Asn) c.*765T>A (n.*765T>A) | |
| X | g.48905039C>A | CA412895042 | SLC35A2 | c.870G>T (p.Lys290Asn) c.355-147G>T (n.355-147G>T) c.427-147G>T (n.427-147G>T) c.432G>T c.954G>T (p.Lys318Asn) c.909G>T (p.Lys303Asn) c.424+1353G>T c.687G>T (p.Lys229Asn) c.*764G>T (n.*764G>T) | |
| X | g.48905039C>G | CA412895043 | SLC35A2 | c.870G>C (p.Lys290Asn) c.355-147G>C (n.355-147G>C) c.427-147G>C (n.427-147G>C) c.432G>C c.954G>C (p.Lys318Asn) c.909G>C (p.Lys303Asn) c.424+1353G>C c.687G>C (p.Lys229Asn) c.*764G>C (n.*764G>C) | |
| X | g.48905039C>T | CA516359934 | SLC35A2 | c.870G>A (p.Lys290=) c.355-147G>A (n.355-147G>A) c.427-147G>A (n.427-147G>A) c.432G>A c.954G>A (p.Lys318=) c.909G>A (p.Lys303=) c.424+1353G>A c.687G>A (p.Lys229=) c.*764G>A (n.*764G>A) | |
| X | g.48905040T>A | CA412895044 | SLC35A2 | c.869A>T (p.Lys290Met) c.355-148A>T (n.355-148A>T) c.427-148A>T (n.427-148A>T) c.431A>T c.953A>T (p.Lys318Met) c.908A>T (p.Lys303Met) c.424+1352A>T c.686A>T (p.Lys229Met) c.*763A>T (n.*763A>T) | |
| X | g.48905040T>C | CA412895045 | SLC35A2 | c.869A>G (p.Lys290Arg) c.355-148A>G (n.355-148A>G) c.427-148A>G (n.427-148A>G) c.431A>G c.953A>G (p.Lys318Arg) c.908A>G (p.Lys303Arg) c.424+1352A>G c.686A>G (p.Lys229Arg) c.*763A>G (n.*763A>G) | |
| X | g.48905040T>G | CA412895046 | SLC35A2 | c.869A>C (p.Lys290Thr) c.355-148A>C (n.355-148A>C) c.427-148A>C (n.427-148A>C) c.431A>C c.953A>C (p.Lys318Thr) c.908A>C (p.Lys303Thr) c.424+1352A>C c.686A>C (p.Lys229Thr) c.*763A>C (n.*763A>C) | |
| X | g.48905041T>A | CA412895049 | SLC35A2 | c.868A>T (p.Lys290Ter) c.355-149A>T (n.355-149A>T) c.427-149A>T (n.427-149A>T) c.430A>T c.952A>T (p.Lys318Ter) c.907A>T (p.Lys303Ter) c.424+1351A>T c.685A>T (p.Lys229Ter) c.*762A>T (n.*762A>T) | |
| X | g.48905041T>C | CA412895047 | SLC35A2 | c.868A>G (p.Lys290Glu) c.355-149A>G (n.355-149A>G) c.427-149A>G (n.427-149A>G) c.430A>G c.952A>G (p.Lys318Glu) c.907A>G (p.Lys303Glu) c.424+1351A>G c.685A>G (p.Lys229Glu) c.*762A>G (n.*762A>G) | |
| X | g.48905041T>G | CA412895048 | SLC35A2 | c.868A>C (p.Lys290Gln) c.355-149A>C (n.355-149A>C) c.427-149A>C (n.427-149A>C) c.430A>C c.952A>C (p.Lys318Gln) c.907A>C (p.Lys303Gln) c.424+1351A>C c.685A>C (p.Lys229Gln) c.*762A>C (n.*762A>C) | |
| X | g.48905042G>A | CA516359935 | SLC35A2 | c.867C>T (p.Val289=) c.355-150C>T (n.355-150C>T) c.427-150C>T (n.427-150C>T) c.429C>T c.951C>T (p.Val317=) c.906C>T (p.Val302=) c.424+1350C>T c.684C>T (p.Val228=) c.*761C>T (n.*761C>T) | gnomAD v4 |
| X | g.48905042G>C | CA516359936 | SLC35A2 | c.867C>G (p.Val289=) c.355-150C>G (n.355-150C>G) c.427-150C>G (n.427-150C>G) c.429C>G c.951C>G (p.Val317=) c.906C>G (p.Val302=) c.424+1350C>G c.684C>G (p.Val228=) c.*761C>G (n.*761C>G) | |
| X | g.48905042G>T | CA516359937 | SLC35A2 | c.867C>A (p.Val289=) c.355-150C>A (n.355-150C>A) c.427-150C>A (n.427-150C>A) c.429C>A c.951C>A (p.Val317=) c.906C>A (p.Val302=) c.424+1350C>A c.684C>A (p.Val228=) c.*761C>A (n.*761C>A) | |
| X | g.48905043A>C | CA412895050 | SLC35A2 | c.866T>G (p.Val289Gly) c.355-151T>G (n.355-151T>G) c.427-151T>G (n.427-151T>G) c.428T>G c.950T>G (p.Val317Gly) c.905T>G (p.Val302Gly) c.424+1349T>G c.683T>G (p.Val228Gly) c.*760T>G (n.*760T>G) | |
| X | g.48905043A>G | CA412895051 | SLC35A2 | c.866T>C (p.Val289Ala) c.355-151T>C (n.355-151T>C) c.427-151T>C (n.427-151T>C) c.428T>C c.950T>C (p.Val317Ala) c.905T>C (p.Val302Ala) c.424+1349T>C c.683T>C (p.Val228Ala) c.*760T>C (n.*760T>C) | |
| X | g.48905043A>T | CA412895052 | SLC35A2 | c.866T>A (p.Val289Asp) c.355-151T>A (n.355-151T>A) c.427-151T>A (n.427-151T>A) c.428T>A c.950T>A (p.Val317Asp) c.905T>A (p.Val302Asp) c.424+1349T>A c.683T>A (p.Val228Asp) c.*760T>A (n.*760T>A) | |
| X | g.48905044C>A | CA412895053 | SLC35A2 | c.865G>T (p.Val289Phe) c.355-152G>T (n.355-152G>T) c.427-152G>T (n.427-152G>T) c.427G>T c.949G>T (p.Val317Phe) c.904G>T (p.Val302Phe) c.424+1348G>T c.682G>T (p.Val228Phe) c.*759G>T (n.*759G>T) | |
| X | g.48905044C>G | CA412895054 | SLC35A2 | c.865G>C (p.Val289Leu) c.355-152G>C (n.355-152G>C) c.427-152G>C (n.427-152G>C) c.427G>C c.949G>C (p.Val317Leu) c.904G>C (p.Val302Leu) c.424+1348G>C c.682G>C (p.Val228Leu) c.*759G>C (n.*759G>C) | |
| X | g.48905044C>T | CA412895055 | SLC35A2 | c.865G>A (p.Val289Ile) c.355-152G>A (n.355-152G>A) c.427-152G>A (n.427-152G>A) c.427G>A c.949G>A (p.Val317Ile) c.904G>A (p.Val302Ile) c.424+1348G>A c.682G>A (p.Val228Ile) c.*759G>A (n.*759G>A) | gnomAD v4 |
| X | g.48905045A>C | CA516359938 | SLC35A2 | c.864T>G (p.Val288=) c.355-153T>G (n.355-153T>G) c.427-153T>G (n.427-153T>G) c.426T>G c.948T>G (p.Val316=) c.903T>G (p.Val301=) c.424+1347T>G c.681T>G (p.Val227=) c.*758T>G (n.*758T>G) | |
| X | g.48905045A>G | CA516359939 | SLC35A2 | c.864T>C (p.Val288=) c.355-153T>C (n.355-153T>C) c.427-153T>C (n.427-153T>C) c.426T>C c.948T>C (p.Val316=) c.903T>C (p.Val301=) c.424+1347T>C c.681T>C (p.Val227=) c.*758T>C (n.*758T>C) | |
| X | g.48905045A>T | CA516359940 | SLC35A2 | c.864T>A (p.Val288=) c.355-153T>A (n.355-153T>A) c.427-153T>A (n.427-153T>A) c.426T>A c.948T>A (p.Val316=) c.903T>A (p.Val301=) c.424+1347T>A c.681T>A (p.Val227=) c.*758T>A (n.*758T>A) | |
| X | g.48905046A>C | CA412895056 | SLC35A2 | c.863T>G (p.Val288Gly) c.355-154T>G (n.355-154T>G) c.427-154T>G (n.427-154T>G) c.425T>G c.947T>G (p.Val316Gly) c.902T>G (p.Val301Gly) c.424+1346T>G c.680T>G (p.Val227Gly) c.*757T>G (n.*757T>G) | |
| X | g.48905046A>G | CA412895057 | SLC35A2 | c.863T>C (p.Val288Ala) c.355-154T>C (n.355-154T>C) c.427-154T>C (n.427-154T>C) c.425T>C c.947T>C (p.Val316Ala) c.902T>C (p.Val301Ala) c.424+1346T>C c.680T>C (p.Val227Ala) c.*757T>C (n.*757T>C) | |
| X | g.48905046A>T | CA412895058 | SLC35A2 | c.863T>A (p.Val288Asp) c.355-154T>A (n.355-154T>A) c.427-154T>A (n.427-154T>A) c.425T>A c.947T>A (p.Val316Asp) c.902T>A (p.Val301Asp) c.424+1346T>A c.680T>A (p.Val227Asp) c.*757T>A (n.*757T>A) | |
| X | g.48905047C>A | CA412895059 | SLC35A2 | c.862G>T (p.Val288Phe) c.355-155G>T (n.355-155G>T) c.427-155G>T (n.427-155G>T) c.424G>T c.946G>T (p.Val316Phe) c.901G>T (p.Val301Phe) c.424+1345G>T c.679G>T (p.Val227Phe) c.*756G>T (n.*756G>T) | |
| X | g.48905047C>G | CA412895060 | SLC35A2 | c.862G>C (p.Val288Leu) c.355-155G>C (n.355-155G>C) c.427-155G>C (n.427-155G>C) c.424G>C c.946G>C (p.Val316Leu) c.901G>C (p.Val301Leu) c.424+1345G>C c.679G>C (p.Val227Leu) c.*756G>C (n.*756G>C) | |
| X | g.48905047C>T | CA412895061 | SLC35A2 | c.862G>A (p.Val288Ile) c.355-155G>A (n.355-155G>A) c.427-155G>A (n.427-155G>A) c.424G>A c.946G>A (p.Val316Ile) c.901G>A (p.Val301Ile) c.424+1345G>A c.679G>A (p.Val227Ile) c.*756G>A (n.*756G>A) | |
| X | g.48905048C>A | CA516359941 | SLC35A2 | c.861G>T (p.Val287=) c.355-156G>T (n.355-156G>T) c.427-156G>T (n.427-156G>T) c.423G>T c.945G>T (p.Val315=) c.900G>T (p.Val300=) c.424+1344G>T c.678G>T (p.Val226=) c.*755G>T (n.*755G>T) | |
| X | g.48905048C>G | CA516359942 | SLC35A2 | c.861G>C (p.Val287=) c.355-156G>C (n.355-156G>C) c.427-156G>C (n.427-156G>C) c.423G>C c.945G>C (p.Val315=) c.900G>C (p.Val300=) c.424+1344G>C c.678G>C (p.Val226=) c.*755G>C (n.*755G>C) | |
| X | g.48905048C>T | CA516359943 | SLC35A2 | c.861G>A (p.Val287=) c.355-156G>A (n.355-156G>A) c.427-156G>A (n.427-156G>A) c.423G>A c.945G>A (p.Val315=) c.900G>A (p.Val300=) c.424+1344G>A c.678G>A (p.Val226=) c.*755G>A (n.*755G>A) | |
| X | g.48905049A>C | CA412895063 | SLC35A2 | c.860T>G (p.Val287Gly) c.355-157T>G (n.355-157T>G) c.427-157T>G (n.427-157T>G) c.422T>G c.944T>G (p.Val315Gly) c.899T>G (p.Val300Gly) c.424+1343T>G c.677T>G (p.Val226Gly) c.*754T>G (n.*754T>G) | |
| X | g.48905049A>G | CA412895064 | SLC35A2 | c.860T>C (p.Val287Ala) c.355-157T>C (n.355-157T>C) c.427-157T>C (n.427-157T>C) c.422T>C c.944T>C (p.Val315Ala) c.899T>C (p.Val300Ala) c.424+1343T>C c.677T>C (p.Val226Ala) c.*754T>C (n.*754T>C) | |
| X | g.48905049A>T | CA412895062 | SLC35A2 | c.860T>A (p.Val287Glu) c.355-157T>A (n.355-157T>A) c.427-157T>A (n.427-157T>A) c.422T>A c.944T>A (p.Val315Glu) c.899T>A (p.Val300Glu) c.424+1343T>A c.677T>A (p.Val226Glu) c.*754T>A (n.*754T>A) | |
| X | g.48905050C>A | CA412895065 | SLC35A2 | c.859G>T (p.Val287Leu) c.355-158G>T (n.355-158G>T) c.427-158G>T (n.427-158G>T) c.421G>T c.943G>T (p.Val315Leu) c.898G>T (p.Val300Leu) c.424+1342G>T c.676G>T (p.Val226Leu) c.*753G>T (n.*753G>T) | |
| X | g.48905050C>G | CA412895067 | SLC35A2 | c.859G>C (p.Val287Leu) c.355-158G>C (n.355-158G>C) c.427-158G>C (n.427-158G>C) c.421G>C c.943G>C (p.Val315Leu) c.898G>C (p.Val300Leu) c.424+1342G>C c.676G>C (p.Val226Leu) c.*753G>C (n.*753G>C) | |
| X | g.48905050C>T | CA412895066 | SLC35A2 | c.859G>A (p.Val287Met) c.355-158G>A (n.355-158G>A) c.427-158G>A (n.427-158G>A) c.421G>A c.943G>A (p.Val315Met) c.898G>A (p.Val300Met) c.424+1342G>A c.676G>A (p.Val226Met) c.*753G>A (n.*753G>A) | gnomAD v4 |
| X | g.48905051A>C | CA516359944 | SLC35A2 | c.858T>G (p.Ala286=) c.355-159T>G (n.355-159T>G) c.427-159T>G (n.427-159T>G) c.420T>G c.942T>G (p.Ala314=) c.897T>G (p.Ala299=) c.424+1341T>G c.675T>G (p.Ala225=) c.*752T>G (n.*752T>G) | |
| X | g.48905051A>G | CA516359945 | SLC35A2 | c.858T>C (p.Ala286=) c.355-159T>C (n.355-159T>C) c.427-159T>C (n.427-159T>C) c.420T>C c.942T>C (p.Ala314=) c.897T>C (p.Ala299=) c.424+1341T>C c.675T>C (p.Ala225=) c.*752T>C (n.*752T>C) | |
| X | g.48905051A>T | CA516359946 | SLC35A2 | c.858T>A (p.Ala286=) c.355-159T>A (n.355-159T>A) c.427-159T>A (n.427-159T>A) c.420T>A c.942T>A (p.Ala314=) c.897T>A (p.Ala299=) c.424+1341T>A c.675T>A (p.Ala225=) c.*752T>A (n.*752T>A) | |
| X | g.48905052G>A | CA412895068 | SLC35A2 | c.857C>T (p.Ala286Val) c.355-160C>T (n.355-160C>T) c.427-160C>T (n.427-160C>T) c.419C>T c.941C>T (p.Ala314Val) c.896C>T (p.Ala299Val) c.424+1340C>T c.674C>T (p.Ala225Val) c.*751C>T (n.*751C>T) | |
| X | g.48905052G>C | CA412895069 | SLC35A2 | c.857C>G (p.Ala286Gly) c.355-160C>G (n.355-160C>G) c.427-160C>G (n.427-160C>G) c.419C>G c.941C>G (p.Ala314Gly) c.896C>G (p.Ala299Gly) c.424+1340C>G c.674C>G (p.Ala225Gly) c.*751C>G (n.*751C>G) | |
| X | g.48905052G>T | CA412895070 | SLC35A2 | c.857C>A (p.Ala286Asp) c.355-160C>A (n.355-160C>A) c.427-160C>A (n.427-160C>A) c.419C>A c.941C>A (p.Ala314Asp) c.896C>A (p.Ala299Asp) c.424+1340C>A c.674C>A (p.Ala225Asp) c.*751C>A (n.*751C>A) | |
| X | g.48905053C>A | CA412895071 | SLC35A2 | c.856G>T (p.Ala286Ser) c.355-161G>T (n.355-161G>T) c.427-161G>T (n.427-161G>T) c.418G>T c.940G>T (p.Ala314Ser) c.895G>T (p.Ala299Ser) c.424+1339G>T c.673G>T (p.Ala225Ser) c.*750G>T (n.*750G>T) | |
| X | g.48905053C>G | CA412895072 | SLC35A2 | c.856G>C (p.Ala286Pro) c.355-161G>C (n.355-161G>C) c.427-161G>C (n.427-161G>C) c.418G>C c.940G>C (p.Ala314Pro) c.895G>C (p.Ala299Pro) c.424+1339G>C c.673G>C (p.Ala225Pro) c.*750G>C (n.*750G>C) | |
| X | g.48905053C>T | CA412895073 | SLC35A2 | c.856G>A (p.Ala286Thr) c.355-161G>A (n.355-161G>A) c.427-161G>A (n.427-161G>A) c.418G>A c.940G>A (p.Ala314Thr) c.895G>A (p.Ala299Thr) c.424+1339G>A c.673G>A (p.Ala225Thr) c.*750G>A (n.*750G>A) | |
| X | g.48905054del | CA2695233837 | SLC35A2 | c.856del (p.Ala286LeufsTer?) c.355-161del (n.355-161del) c.427-161del (n.427-161del) c.418del c.940del (p.Ala314LeufsTer?) c.895del (p.Ala299LeufsTer?) c.424+1339del c.673del (p.Ala225LeufsTer?) c.*750del (n.*750del) | |
| X | g.48905054C>A | CA516359947 | SLC35A2 | c.855G>T (p.Val285=) c.355-162G>T (n.355-162G>T) c.427-162G>T (n.427-162G>T) c.417G>T c.939G>T (p.Val313=) c.894G>T (p.Val298=) c.424+1338G>T c.672G>T (p.Val224=) c.*749G>T (n.*749G>T) | |
| X | g.48905054C= | CA2428428853 | SLC35A2 | c.855G= (p.Val285=) c.355-162G= (n.355-162G=) c.427-162G= (n.427-162G=) c.417G= c.939G= (p.Val313=) c.894G= (p.Val298=) c.424+1338G= c.672G= (p.Val224=) c.*749G= (n.*749G=) | |
| X | g.48905054C>G | CA516359948 | SLC35A2 | c.855G>C (p.Val285=) c.355-162G>C (n.355-162G>C) c.427-162G>C (n.427-162G>C) c.417G>C c.939G>C (p.Val313=) c.894G>C (p.Val298=) c.424+1338G>C c.672G>C (p.Val224=) c.*749G>C (n.*749G>C) | |
| X | g.48905054C>T | CA516359949 | SLC35A2 | c.855G>A (p.Val285=) c.355-162G>A (n.355-162G>A) c.427-162G>A (n.427-162G>A) c.417G>A c.939G>A (p.Val313=) c.894G>A (p.Val298=) c.424+1338G>A c.672G>A (p.Val224=) c.*749G>A (n.*749G>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48905055A>C | CA412895074 | SLC35A2 | c.854T>G (p.Val285Gly) c.355-163T>G (n.355-163T>G) c.427-163T>G (n.427-163T>G) c.416T>G c.938T>G (p.Val313Gly) c.893T>G (p.Val298Gly) c.424+1337T>G c.671T>G (p.Val224Gly) c.*748T>G (n.*748T>G) | |
| X | g.48905055A>G | CA412895075 | SLC35A2 | c.854T>C (p.Val285Ala) c.355-163T>C (n.355-163T>C) c.427-163T>C (n.427-163T>C) c.416T>C c.938T>C (p.Val313Ala) c.893T>C (p.Val298Ala) c.424+1337T>C c.671T>C (p.Val224Ala) c.*748T>C (n.*748T>C) | |
| X | g.48905055A>T | CA412895076 | SLC35A2 | c.854T>A (p.Val285Glu) c.355-163T>A (n.355-163T>A) c.427-163T>A (n.427-163T>A) c.416T>A c.938T>A (p.Val313Glu) c.893T>A (p.Val298Glu) c.424+1337T>A c.671T>A (p.Val224Glu) c.*748T>A (n.*748T>A) | |
| X | g.48905056C>A | CA412895077 | SLC35A2 | c.853G>T (p.Val285Leu) c.355-164G>T (n.355-164G>T) c.427-164G>T (n.427-164G>T) c.415G>T c.937G>T (p.Val313Leu) c.892G>T (p.Val298Leu) c.424+1336G>T c.670G>T (p.Val224Leu) c.*747G>T (n.*747G>T) | |
| X | g.48905056C>G | CA412895078 | SLC35A2 | c.853G>C (p.Val285Leu) c.355-164G>C (n.355-164G>C) c.427-164G>C (n.427-164G>C) c.415G>C c.937G>C (p.Val313Leu) c.892G>C (p.Val298Leu) c.424+1336G>C c.670G>C (p.Val224Leu) c.*747G>C (n.*747G>C) | |
| X | g.48905056C>T | CA412895079 | SLC35A2 | c.853G>A (p.Val285Met) c.355-164G>A (n.355-164G>A) c.427-164G>A (n.427-164G>A) c.415G>A c.937G>A (p.Val313Met) c.892G>A (p.Val298Met) c.424+1336G>A c.670G>A (p.Val224Met) c.*747G>A (n.*747G>A) | |
| X | g.48905057C>A | CA10406088 | SLC35A2 | c.852G>T (p.Leu284=) c.355-165G>T (n.355-165G>T) c.427-165G>T (n.427-165G>T) c.414G>T c.936G>T (p.Leu312=) c.891G>T (p.Leu297=) c.424+1335G>T c.669G>T (p.Leu223=) c.*746G>T (n.*746G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48905057C= | CA2428428854 | SLC35A2 | c.852G= (p.Leu284=) c.355-165G= (n.355-165G=) c.427-165G= (n.427-165G=) c.414G= c.936G= (p.Leu312=) c.891G= (p.Leu297=) c.424+1335G= c.669G= (p.Leu223=) c.*746G= (n.*746G=) | |
| X | g.48905057C>G | CA516359952 | SLC35A2 | c.852G>C (p.Leu284=) c.355-165G>C (n.355-165G>C) c.427-165G>C (n.427-165G>C) c.414G>C c.936G>C (p.Leu312=) c.891G>C (p.Leu297=) c.424+1335G>C c.669G>C (p.Leu223=) c.*746G>C (n.*746G>C) | |
| X | g.48905057C>T | CA516359951 | SLC35A2 | c.852G>A (p.Leu284=) c.355-165G>A (n.355-165G>A) c.427-165G>A (n.427-165G>A) c.414G>A c.936G>A (p.Leu312=) c.891G>A (p.Leu297=) c.424+1335G>A c.669G>A (p.Leu223=) c.*746G>A (n.*746G>A) | |
| X | g.48905058A>C | CA412895080 | SLC35A2 | c.851T>G (p.Leu284Arg) c.355-166T>G (n.355-166T>G) c.427-166T>G (n.427-166T>G) c.413T>G c.935T>G (p.Leu312Arg) c.890T>G (p.Leu297Arg) c.424+1334T>G c.668T>G (p.Leu223Arg) c.*745T>G (n.*745T>G) | |
| X | g.48905058A>G | CA412895081 | SLC35A2 | c.851T>C (p.Leu284Pro) c.355-166T>C (n.355-166T>C) c.427-166T>C (n.427-166T>C) c.413T>C c.935T>C (p.Leu312Pro) c.890T>C (p.Leu297Pro) c.424+1334T>C c.668T>C (p.Leu223Pro) c.*745T>C (n.*745T>C) | |
| X | g.48905058A>T | CA412895082 | SLC35A2 | c.851T>A (p.Leu284Gln) c.355-166T>A (n.355-166T>A) c.427-166T>A (n.427-166T>A) c.413T>A c.935T>A (p.Leu312Gln) c.890T>A (p.Leu297Gln) c.424+1334T>A c.668T>A (p.Leu223Gln) c.*745T>A (n.*745T>A) | |
| X | g.48905059G>A | CA516359953 | SLC35A2 | c.850C>T (p.Leu284=) c.355-167C>T (n.355-167C>T) c.427-167C>T (n.427-167C>T) c.412C>T c.934C>T (p.Leu312=) c.889C>T (p.Leu297=) c.424+1333C>T c.667C>T (p.Leu223=) c.*744C>T (n.*744C>T) | gnomAD v4 |
| X | g.48905059G>C | CA412895083 | SLC35A2 | c.850C>G (p.Leu284Val) c.355-167C>G (n.355-167C>G) c.427-167C>G (n.427-167C>G) c.412C>G c.934C>G (p.Leu312Val) c.889C>G (p.Leu297Val) c.424+1333C>G c.667C>G (p.Leu223Val) c.*744C>G (n.*744C>G) | |
| X | g.48905059G>T | CA412895084 | SLC35A2 | c.850C>A (p.Leu284Met) c.355-167C>A (n.355-167C>A) c.427-167C>A (n.427-167C>A) c.412C>A c.934C>A (p.Leu312Met) c.889C>A (p.Leu297Met) c.424+1333C>A c.667C>A (p.Leu223Met) c.*744C>A (n.*744C>A) | |
| X | g.48905060T>A | CA516359954 | SLC35A2 | c.849A>T (p.Leu283=) c.355-168A>T (n.355-168A>T) c.427-168A>T (n.427-168A>T) c.411A>T c.933A>T (p.Leu311=) c.888A>T (p.Leu296=) c.424+1332A>T c.666A>T (p.Leu222=) c.*743A>T (n.*743A>T) | |
| X | g.48905060T>C | CA516359955 | SLC35A2 | c.849A>G (p.Leu283=) c.355-168A>G (n.355-168A>G) c.427-168A>G (n.427-168A>G) c.411A>G c.933A>G (p.Leu311=) c.888A>G (p.Leu296=) c.424+1332A>G c.666A>G (p.Leu222=) c.*743A>G (n.*743A>G) | gnomAD v4 |
| X | g.48905060T>G | CA516359956 | SLC35A2 | c.849A>C (p.Leu283=) c.355-168A>C (n.355-168A>C) c.427-168A>C (n.427-168A>C) c.411A>C c.933A>C (p.Leu311=) c.888A>C (p.Leu296=) c.424+1332A>C c.666A>C (p.Leu222=) c.*743A>C (n.*743A>C) | |
| X | g.48905061A>C | CA412895085 | SLC35A2 | c.848T>G (p.Leu283Arg) c.355-169T>G (n.355-169T>G) c.427-169T>G (n.427-169T>G) c.410T>G c.932T>G (p.Leu311Arg) c.887T>G (p.Leu296Arg) c.424+1331T>G c.665T>G (p.Leu222Arg) c.*742T>G (n.*742T>G) | |
| X | g.48905061A>G | CA412895086 | SLC35A2 | c.848T>C (p.Leu283Pro) c.355-169T>C (n.355-169T>C) c.427-169T>C (n.427-169T>C) c.410T>C c.932T>C (p.Leu311Pro) c.887T>C (p.Leu296Pro) c.424+1331T>C c.665T>C (p.Leu222Pro) c.*742T>C (n.*742T>C) | |
| X | g.48905061A>T | CA412895087 | SLC35A2 | c.848T>A (p.Leu283Gln) c.355-169T>A (n.355-169T>A) c.427-169T>A (n.427-169T>A) c.410T>A c.932T>A (p.Leu311Gln) c.887T>A (p.Leu296Gln) c.424+1331T>A c.665T>A (p.Leu222Gln) c.*742T>A (n.*742T>A) | |
| X | g.48905062G>A | CA516359957 | SLC35A2 | c.847C>T (p.Leu283=) c.355-170C>T (n.355-170C>T) c.427-170C>T (n.427-170C>T) c.409C>T c.931C>T (p.Leu311=) c.886C>T (p.Leu296=) c.424+1330C>T c.664C>T (p.Leu222=) c.*741C>T (n.*741C>T) | |
| X | g.48905062G>C | CA412895088 | SLC35A2 | c.847C>G (p.Leu283Val) c.355-170C>G (n.355-170C>G) c.427-170C>G (n.427-170C>G) c.409C>G c.931C>G (p.Leu311Val) c.886C>G (p.Leu296Val) c.424+1330C>G c.664C>G (p.Leu222Val) c.*741C>G (n.*741C>G) | |
| X | g.48905062G>T | CA412895089 | SLC35A2 | c.847C>A (p.Leu283Ile) c.355-170C>A (n.355-170C>A) c.427-170C>A (n.427-170C>A) c.409C>A c.931C>A (p.Leu311Ile) c.886C>A (p.Leu296Ile) c.424+1330C>A c.664C>A (p.Leu222Ile) c.*741C>A (n.*741C>A) | |
| X | g.48905063C>A | CA516359958 | SLC35A2 | c.846G>T (p.Gly282=) c.355-171G>T (n.355-171G>T) c.427-171G>T (n.427-171G>T) c.408G>T c.930G>T (p.Gly310=) c.885G>T (p.Gly295=) c.424+1329G>T c.663G>T (p.Gly221=) c.*740G>T (n.*740G>T) | |
| X | g.48905063C>G | CA516359959 | SLC35A2 | c.846G>C (p.Gly282=) c.355-171G>C (n.355-171G>C) c.427-171G>C (n.427-171G>C) c.408G>C c.930G>C (p.Gly310=) c.885G>C (p.Gly295=) c.424+1329G>C c.663G>C (p.Gly221=) c.*740G>C (n.*740G>C) | |
| X | g.48905063C>T | CA516359960 | SLC35A2 | c.846G>A (p.Gly282=) c.355-171G>A (n.355-171G>A) c.427-171G>A (n.427-171G>A) c.408G>A c.930G>A (p.Gly310=) c.885G>A (p.Gly295=) c.424+1329G>A c.663G>A (p.Gly221=) c.*740G>A (n.*740G>A) | COSMIC |
| X | g.48905064C>A | CA412895090 | SLC35A2 | c.845G>T (p.Gly282Val) c.355-172G>T (n.355-172G>T) c.427-172G>T (n.427-172G>T) c.407G>T c.929G>T (p.Gly310Val) c.884G>T (p.Gly295Val) c.424+1328G>T c.662G>T (p.Gly221Val) c.*739G>T (n.*739G>T) | |
| X | g.48905064C>G | CA412895091 | SLC35A2 | c.845G>C (p.Gly282Ala) c.355-172G>C (n.355-172G>C) c.427-172G>C (n.427-172G>C) c.407G>C c.929G>C (p.Gly310Ala) c.884G>C (p.Gly295Ala) c.424+1328G>C c.662G>C (p.Gly221Ala) c.*739G>C (n.*739G>C) | |
| X | g.48905064C>T | CA412895092 | SLC35A2 | c.845G>A (p.Gly282Glu) c.355-172G>A (n.355-172G>A) c.427-172G>A (n.427-172G>A) c.407G>A c.929G>A (p.Gly310Glu) c.884G>A (p.Gly295Glu) c.424+1328G>A c.662G>A (p.Gly221Glu) c.*739G>A (n.*739G>A) | |
| X | g.48905065C>A | CA412895093 | SLC35A2 | c.844G>T (p.Gly282Trp) c.355-173G>T (n.355-173G>T) c.427-173G>T (n.427-173G>T) c.406G>T c.928G>T (p.Gly310Trp) c.883G>T (p.Gly295Trp) c.424+1327G>T c.661G>T (p.Gly221Trp) c.*738G>T (n.*738G>T) | COSMIC |
| X | g.48905065C= | CA2428428855 | SLC35A2 | c.844G= (p.Gly282=) c.355-173G= (n.355-173G=) c.427-173G= (n.427-173G=) c.406G= c.928G= (p.Gly310=) c.883G= (p.Gly295=) c.424+1327G= c.661G= (p.Gly221=) c.*738G= (n.*738G=) | |
| X | g.48905065C>G | CA412895095 | SLC35A2 | c.844G>C (p.Gly282Arg) c.355-173G>C (n.355-173G>C) c.427-173G>C (n.427-173G>C) c.406G>C c.928G>C (p.Gly310Arg) c.883G>C (p.Gly295Arg) c.424+1327G>C c.661G>C (p.Gly221Arg) c.*738G>C (n.*738G>C) | |
| X | g.48905065C>T | CA412895094 | SLC35A2 | c.844G>A (p.Gly282Arg) c.355-173G>A (n.355-173G>A) c.427-173G>A (n.427-173G>A) c.406G>A c.928G>A (p.Gly310Arg) c.883G>A (p.Gly295Arg) c.424+1327G>A c.661G>A (p.Gly221Arg) c.*738G>A (n.*738G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.48905065_48905072delinsCGCCGAAG | CA2428428856 | SLC35A2 | c.837_844delinsCTTCGGCG (p.Ala279=) c.355-180_355-173delinsCTTCGGCG (n.355-180_355-173delinsCTTCGGCG) c.427-180_427-173delinsCTTCGGCG (n.427-180_427-173delinsCTTCGGCG) c.399_406delinsCTTCGGCG c.921_928delinsCTTCGGCG (p.Ala307=) c.876_883delinsCTTCGGCG (p.Ala292=) c.424+1320_424+1327delinsCTTCGGCG c.654_661delinsCTTCGGCG (p.Ala218=) c.*731_*738delinsCTTCGGCG (n.*731_*738delinsCTTCGGCG) | |
| X | g.48905066G>A | CA10406089 | SLC35A2 | c.843C>T (p.Gly281=) c.355-174C>T (n.355-174C>T) c.427-174C>T (n.427-174C>T) c.405C>T c.927C>T (p.Gly309=) c.882C>T (p.Gly294=) c.424+1326C>T c.660C>T (p.Gly220=) c.*737C>T (n.*737C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48905066G>C | CA516359961 | SLC35A2 | c.843C>G (p.Gly281=) c.355-174C>G (n.355-174C>G) c.427-174C>G (n.427-174C>G) c.405C>G c.927C>G (p.Gly309=) c.882C>G (p.Gly294=) c.424+1326C>G c.660C>G (p.Gly220=) c.*737C>G (n.*737C>G) | |
| X | g.48905066G= | CA2428428857 | SLC35A2 | c.843C= (p.Gly281=) c.355-174C= (n.355-174C=) c.427-174C= (n.427-174C=) c.405C= c.927C= (p.Gly309=) c.882C= (p.Gly294=) c.424+1326C= c.660C= (p.Gly220=) c.*737C= (n.*737C=) | |
| X | g.48905066G>T | CA516359962 | SLC35A2 | c.843C>A (p.Gly281=) c.355-174C>A (n.355-174C>A) c.427-174C>A (n.427-174C>A) c.405C>A c.927C>A (p.Gly309=) c.882C>A (p.Gly294=) c.424+1326C>A c.660C>A (p.Gly220=) c.*737C>A (n.*737C>A) | gnomAD v4 |
| X | g.48905069_48905075del | CA916083953 | SLC35A2 | c.837_843del (p.Phe280GlyfsTer?) c.355-180_355-174del (n.355-180_355-174del) c.427-180_427-174del (n.427-180_427-174del) c.399_405del c.921_927del (p.Phe308GlyfsTer?) c.876_882del (p.Phe293GlyfsTer?) c.424+1320_424+1326del c.654_660del (p.Phe219GlyfsTer?) c.*731_*737del (n.*731_*737del) | ClinVar dbSNP |
| X | g.48905067C>A | CA412895096 | SLC35A2 | c.842G>T (p.Gly281Val) c.355-175G>T (n.355-175G>T) c.427-175G>T (n.427-175G>T) c.404G>T c.926G>T (p.Gly309Val) c.881G>T (p.Gly294Val) c.424+1325G>T c.659G>T (p.Gly220Val) c.*736G>T (n.*736G>T) | ClinVar |
| X | g.48905067C>G | CA412895097 | SLC35A2 | c.842G>C (p.Gly281Ala) c.355-175G>C (n.355-175G>C) c.427-175G>C (n.427-175G>C) c.404G>C c.926G>C (p.Gly309Ala) c.881G>C (p.Gly294Ala) c.424+1325G>C c.659G>C (p.Gly220Ala) c.*736G>C (n.*736G>C) | |
| X | g.48905067C>T | CA412895098 | SLC35A2 | c.842G>A (p.Gly281Asp) c.355-175G>A (n.355-175G>A) c.427-175G>A (n.427-175G>A) c.404G>A c.926G>A (p.Gly309Asp) c.881G>A (p.Gly294Asp) c.424+1325G>A c.659G>A (p.Gly220Asp) c.*736G>A (n.*736G>A) | |
| X | g.48905068C>A | CA412895099 | SLC35A2 | c.841G>T (p.Gly281Cys) c.355-176G>T (n.355-176G>T) c.427-176G>T (n.427-176G>T) c.403G>T c.925G>T (p.Gly309Cys) c.880G>T (p.Gly294Cys) c.424+1324G>T c.658G>T (p.Gly220Cys) c.*735G>T (n.*735G>T) | |
| X | g.48905068C= | CA2428428858 | SLC35A2 | c.841G= (p.Gly281=) c.355-176G= (n.355-176G=) c.427-176G= (n.427-176G=) c.403G= c.925G= (p.Gly309=) c.880G= (p.Gly294=) c.424+1324G= c.658G= (p.Gly220=) c.*735G= (n.*735G=) | |
| X | g.48905068C>G | CA412895100 | SLC35A2 | c.841G>C (p.Gly281Arg) c.355-176G>C (n.355-176G>C) c.427-176G>C (n.427-176G>C) c.403G>C c.925G>C (p.Gly309Arg) c.880G>C (p.Gly294Arg) c.424+1324G>C c.658G>C (p.Gly220Arg) c.*735G>C (n.*735G>C) | COSMIC COSMIC |
| X | g.48905068C>T | CA412895101 | SLC35A2 | c.841G>A (p.Gly281Ser) c.355-176G>A (n.355-176G>A) c.427-176G>A (n.427-176G>A) c.403G>A c.925G>A (p.Gly309Ser) c.880G>A (p.Gly294Ser) c.424+1324G>A c.658G>A (p.Gly220Ser) c.*735G>A (n.*735G>A) | ClinVar dbSNP |
| X | g.48905069G>A | CA10406090 | SLC35A2 | c.840C>T (p.Phe280=) c.355-177C>T (n.355-177C>T) c.427-177C>T (n.427-177C>T) c.402C>T c.924C>T (p.Phe308=) c.879C>T (p.Phe293=) c.424+1323C>T c.657C>T (p.Phe219=) c.*734C>T (n.*734C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48905069G>C | CA412895102 | SLC35A2 | c.840C>G (p.Phe280Leu) c.355-177C>G (n.355-177C>G) c.427-177C>G (n.427-177C>G) c.402C>G c.924C>G (p.Phe308Leu) c.879C>G (p.Phe293Leu) c.424+1323C>G c.657C>G (p.Phe219Leu) c.*734C>G (n.*734C>G) | |
| X | g.48905069G= | CA2428428859 | SLC35A2 | c.840C= (p.Phe280=) c.355-177C= (n.355-177C=) c.427-177C= (n.427-177C=) c.402C= c.924C= (p.Phe308=) c.879C= (p.Phe293=) c.424+1323C= c.657C= (p.Phe219=) c.*734C= (n.*734C=) | |
| X | g.48905069G>T | CA412895103 | SLC35A2 | c.840C>A (p.Phe280Leu) c.355-177C>A (n.355-177C>A) c.427-177C>A (n.427-177C>A) c.402C>A c.924C>A (p.Phe308Leu) c.879C>A (p.Phe293Leu) c.424+1323C>A c.657C>A (p.Phe219Leu) c.*734C>A (n.*734C>A) | |
| X | g.48905070A>C | CA412895104 | SLC35A2 | c.839T>G (p.Phe280Cys) c.355-178T>G (n.355-178T>G) c.427-178T>G (n.427-178T>G) c.401T>G c.923T>G (p.Phe308Cys) c.878T>G (p.Phe293Cys) c.424+1322T>G c.656T>G (p.Phe219Cys) c.*733T>G (n.*733T>G) | |
| X | g.48905070A>G | CA412895105 | SLC35A2 | c.839T>C (p.Phe280Ser) c.355-178T>C (n.355-178T>C) c.427-178T>C (n.427-178T>C) c.401T>C c.923T>C (p.Phe308Ser) c.878T>C (p.Phe293Ser) c.424+1322T>C c.656T>C (p.Phe219Ser) c.*733T>C (n.*733T>C) | |
| X | g.48905070A>T | CA412895106 | SLC35A2 | c.839T>A (p.Phe280Tyr) c.355-178T>A (n.355-178T>A) c.427-178T>A (n.427-178T>A) c.401T>A c.923T>A (p.Phe308Tyr) c.878T>A (p.Phe293Tyr) c.424+1322T>A c.656T>A (p.Phe219Tyr) c.*733T>A (n.*733T>A) | |
| X | g.48905071A= | CA2428428860 | SLC35A2 | c.838T= (p.Phe280=) c.355-179T= (n.355-179T=) c.427-179T= (n.427-179T=) c.400T= c.922T= (p.Phe308=) c.877T= (p.Phe293=) c.424+1321T= c.655T= (p.Phe219=) c.*732T= (n.*732T=) | |
| X | g.48905071A>C | CA412895107 | SLC35A2 | c.838T>G (p.Phe280Val) c.355-179T>G (n.355-179T>G) c.427-179T>G (n.427-179T>G) c.400T>G c.922T>G (p.Phe308Val) c.877T>G (p.Phe293Val) c.424+1321T>G c.655T>G (p.Phe219Val) c.*732T>G (n.*732T>G) | |
| X | g.48905071A>G | CA412895109 | SLC35A2 | c.838T>C (p.Phe280Leu) c.355-179T>C (n.355-179T>C) c.427-179T>C (n.427-179T>C) c.400T>C c.922T>C (p.Phe308Leu) c.877T>C (p.Phe293Leu) c.424+1321T>C c.655T>C (p.Phe219Leu) c.*732T>C (n.*732T>C) | dbSNP gnomAD v4 |
| X | g.48905071A>T | CA412895108 | SLC35A2 | c.838T>A (p.Phe280Ile) c.355-179T>A (n.355-179T>A) c.427-179T>A (n.427-179T>A) c.400T>A c.922T>A (p.Phe308Ile) c.877T>A (p.Phe293Ile) c.424+1321T>A c.655T>A (p.Phe219Ile) c.*732T>A (n.*732T>A) | |
| X | g.48905072G>A | CA516359967 | SLC35A2 | c.837C>T (p.Ala279=) c.355-180C>T (n.355-180C>T) c.427-180C>T (n.427-180C>T) c.399C>T c.921C>T (p.Ala307=) c.876C>T (p.Ala292=) c.424+1320C>T c.654C>T (p.Ala218=) c.*731C>T (n.*731C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48905072G>C | CA516359968 | SLC35A2 | c.837C>G (p.Ala279=) c.355-180C>G (n.355-180C>G) c.427-180C>G (n.427-180C>G) c.399C>G c.921C>G (p.Ala307=) c.876C>G (p.Ala292=) c.424+1320C>G c.654C>G (p.Ala218=) c.*731C>G (n.*731C>G) | gnomAD v4 |
| X | g.48905072G= | CA2428428861 | SLC35A2 | c.837C= (p.Ala279=) c.355-180C= (n.355-180C=) c.427-180C= (n.427-180C=) c.399C= c.921C= (p.Ala307=) c.876C= (p.Ala292=) c.424+1320C= c.654C= (p.Ala218=) c.*731C= (n.*731C=) | |
| X | g.48905072G>T | CA516359969 | SLC35A2 | c.837C>A (p.Ala279=) c.355-180C>A (n.355-180C>A) c.427-180C>A (n.427-180C>A) c.399C>A c.921C>A (p.Ala307=) c.876C>A (p.Ala292=) c.424+1320C>A c.654C>A (p.Ala218=) c.*731C>A (n.*731C>A) | |
| X | g.48905073G>A | CA412895110 | SLC35A2 | c.836C>T (p.Ala279Val) c.355-181C>T (n.355-181C>T) c.427-181C>T (n.427-181C>T) c.398C>T c.920C>T (p.Ala307Val) c.875C>T (p.Ala292Val) c.424+1319C>T c.653C>T (p.Ala218Val) c.*730C>T (n.*730C>T) | |
| X | g.48905073G>C | CA412895111 | SLC35A2 | c.836C>G (p.Ala279Gly) c.355-181C>G (n.355-181C>G) c.427-181C>G (n.427-181C>G) c.398C>G c.920C>G (p.Ala307Gly) c.875C>G (p.Ala292Gly) c.424+1319C>G c.653C>G (p.Ala218Gly) c.*730C>G (n.*730C>G) | |
| X | g.48905073G>T | CA412895112 | SLC35A2 | c.836C>A (p.Ala279Asp) c.355-181C>A (n.355-181C>A) c.427-181C>A (n.427-181C>A) c.398C>A c.920C>A (p.Ala307Asp) c.875C>A (p.Ala292Asp) c.424+1319C>A c.653C>A (p.Ala218Asp) c.*730C>A (n.*730C>A) | |
| X | g.48905074C>A | CA412895113 | SLC35A2 | c.835G>T (p.Ala279Ser) c.355-182G>T (n.355-182G>T) c.427-182G>T (n.427-182G>T) c.397G>T c.919G>T (p.Ala307Ser) c.874G>T (p.Ala292Ser) c.424+1318G>T c.652G>T (p.Ala218Ser) c.*729G>T (n.*729G>T) | |
| X | g.48905074C>G | CA412895114 | SLC35A2 | c.835G>C (p.Ala279Pro) c.355-182G>C (n.355-182G>C) c.427-182G>C (n.427-182G>C) c.397G>C c.919G>C (p.Ala307Pro) c.874G>C (p.Ala292Pro) c.424+1318G>C c.652G>C (p.Ala218Pro) c.*729G>C (n.*729G>C) | |
| X | g.48905074C>T | CA412895115 | SLC35A2 | c.835G>A (p.Ala279Thr) c.355-182G>A (n.355-182G>A) c.427-182G>A (n.427-182G>A) c.397G>A c.919G>A (p.Ala307Thr) c.874G>A (p.Ala292Thr) c.424+1318G>A c.652G>A (p.Ala218Thr) c.*729G>A (n.*729G>A) | |
| X | g.48905075C>A | CA412895116 | SLC35A2 | c.834G>T (p.Gln278His) c.355-183G>T (n.355-183G>T) c.427-183G>T (n.427-183G>T) c.396G>T c.918G>T (p.Gln306His) c.873G>T (p.Gln291His) c.424+1317G>T c.651G>T (p.Gln217His) c.*728G>T (n.*728G>T) | |
| X | g.48905075C>G | CA412895117 | SLC35A2 | c.834G>C (p.Gln278His) c.355-183G>C (n.355-183G>C) c.427-183G>C (n.427-183G>C) c.396G>C c.918G>C (p.Gln306His) c.873G>C (p.Gln291His) c.424+1317G>C c.651G>C (p.Gln217His) c.*728G>C (n.*728G>C) | |
| X | g.48905075C>T | CA516359971 | SLC35A2 | c.834G>A (p.Gln278=) c.355-183G>A (n.355-183G>A) c.427-183G>A (n.427-183G>A) c.396G>A c.918G>A (p.Gln306=) c.873G>A (p.Gln291=) c.424+1317G>A c.651G>A (p.Gln217=) c.*728G>A (n.*728G>A) | |
| X | g.48905076T>A | CA412895118 | SLC35A2 | c.833A>T (p.Gln278Leu) c.355-184A>T (n.355-184A>T) c.427-184A>T (n.427-184A>T) c.395A>T c.917A>T (p.Gln306Leu) c.872A>T (p.Gln291Leu) c.424+1316A>T c.650A>T (p.Gln217Leu) c.*727A>T (n.*727A>T) | |
| X | g.48905076T>C | CA412895119 | SLC35A2 | c.833A>G (p.Gln278Arg) c.355-184A>G (n.355-184A>G) c.427-184A>G (n.427-184A>G) c.395A>G c.917A>G (p.Gln306Arg) c.872A>G (p.Gln291Arg) c.424+1316A>G c.650A>G (p.Gln217Arg) c.*727A>G (n.*727A>G) | |
| X | g.48905076T>G | CA412895120 | SLC35A2 | c.833A>C (p.Gln278Pro) c.355-184A>C (n.355-184A>C) c.427-184A>C (n.427-184A>C) c.395A>C c.917A>C (p.Gln306Pro) c.872A>C (p.Gln291Pro) c.424+1316A>C c.650A>C (p.Gln217Pro) c.*727A>C (n.*727A>C) | |
| X | g.48905077G>A | CA412895122 | SLC35A2 | c.832C>T (p.Gln278Ter) c.355-185C>T (n.355-185C>T) c.427-185C>T (n.427-185C>T) c.394C>T c.916C>T (p.Gln306Ter) c.871C>T (p.Gln291Ter) c.424+1315C>T c.649C>T (p.Gln217Ter) c.*726C>T (n.*726C>T) | ClinVar |
| X | g.48905077G>C | CA412895123 | SLC35A2 | c.832C>G (p.Gln278Glu) c.355-185C>G (n.355-185C>G) c.427-185C>G (n.427-185C>G) c.394C>G c.916C>G (p.Gln306Glu) c.871C>G (p.Gln291Glu) c.424+1315C>G c.649C>G (p.Gln217Glu) c.*726C>G (n.*726C>G) | |
| X | g.48905077G>T | CA412895121 | SLC35A2 | c.832C>A (p.Gln278Lys) c.355-185C>A (n.355-185C>A) c.427-185C>A (n.427-185C>A) c.394C>A c.916C>A (p.Gln306Lys) c.871C>A (p.Gln291Lys) c.424+1315C>A c.649C>A (p.Gln217Lys) c.*726C>A (n.*726C>A) | |
| X | g.48905078G>A | CA516359977 | SLC35A2 | c.831C>T (p.Asn277=) c.355-186C>T (n.355-186C>T) c.427-186C>T (n.427-186C>T) c.393C>T c.915C>T (p.Asn305=) c.870C>T (p.Asn290=) c.424+1314C>T c.648C>T (p.Asn216=) c.*725C>T (n.*725C>T) | ClinVar dbSNP gnomAD v4 |
| X | g.48905078G>C | CA412895125 | SLC35A2 | c.831C>G (p.Asn277Lys) c.355-186C>G (n.355-186C>G) c.427-186C>G (n.427-186C>G) c.393C>G c.915C>G (p.Asn305Lys) c.870C>G (p.Asn290Lys) c.424+1314C>G c.648C>G (p.Asn216Lys) c.*725C>G (n.*725C>G) | |
| X | g.48905078G= | CA2428428862 | SLC35A2 | c.831C= (p.Asn277=) c.355-186C= (n.355-186C=) c.427-186C= (n.427-186C=) c.393C= c.915C= (p.Asn305=) c.870C= (p.Asn290=) c.424+1314C= c.648C= (p.Asn216=) c.*725C= (n.*725C=) | |
| X | g.48905078G>T | CA412895124 | SLC35A2 | c.831C>A (p.Asn277Lys) c.355-186C>A (n.355-186C>A) c.427-186C>A (n.427-186C>A) c.393C>A c.915C>A (p.Asn305Lys) c.870C>A (p.Asn290Lys) c.424+1314C>A c.648C>A (p.Asn216Lys) c.*725C>A (n.*725C>A) | |
| X | g.48905079T>A | CA412895127 | SLC35A2 | c.830A>T (p.Asn277Ile) c.355-187A>T (n.355-187A>T) c.427-187A>T (n.427-187A>T) c.392A>T c.914A>T (p.Asn305Ile) c.869A>T (p.Asn290Ile) c.424+1313A>T c.647A>T (p.Asn216Ile) c.*724A>T (n.*724A>T) | |
| X | g.48905079T>C | CA412895126 | SLC35A2 | c.830A>G (p.Asn277Ser) c.355-187A>G (n.355-187A>G) c.427-187A>G (n.427-187A>G) c.392A>G c.914A>G (p.Asn305Ser) c.869A>G (p.Asn290Ser) c.424+1313A>G c.647A>G (p.Asn216Ser) c.*724A>G (n.*724A>G) | |
| X | g.48905079T>G | CA412895128 | SLC35A2 | c.830A>C (p.Asn277Thr) c.355-187A>C (n.355-187A>C) c.427-187A>C (n.427-187A>C) c.392A>C c.914A>C (p.Asn305Thr) c.869A>C (p.Asn290Thr) c.424+1313A>C c.647A>C (p.Asn216Thr) c.*724A>C (n.*724A>C) | |
| X | g.48905080T>A | CA412895129 | SLC35A2 | c.829A>T (p.Asn277Tyr) c.355-188A>T (n.355-188A>T) c.427-188A>T (n.427-188A>T) c.391A>T c.913A>T (p.Asn305Tyr) c.868A>T (p.Asn290Tyr) c.424+1312A>T c.646A>T (p.Asn216Tyr) c.*723A>T (n.*723A>T) | |
| X | g.48905080T>C | CA412895131 | SLC35A2 | c.829A>G (p.Asn277Asp) c.355-188A>G (n.355-188A>G) c.427-188A>G (n.427-188A>G) c.391A>G c.913A>G (p.Asn305Asp) c.868A>G (p.Asn290Asp) c.424+1312A>G c.646A>G (p.Asn216Asp) c.*723A>G (n.*723A>G) | |
| X | g.48905080T>G | CA412895130 | SLC35A2 | c.829A>C (p.Asn277His) c.355-188A>C (n.355-188A>C) c.427-188A>C (n.427-188A>C) c.391A>C c.913A>C (p.Asn305His) c.868A>C (p.Asn290His) c.424+1312A>C c.646A>C (p.Asn216His) c.*723A>C (n.*723A>C) | |
| X | g.48905081G>A | CA10406091 | SLC35A2 | c.828C>T (p.Leu276=) c.355-189C>T (n.355-189C>T) c.427-189C>T (n.427-189C>T) c.390C>T c.912C>T (p.Leu304=) c.867C>T (p.Leu289=) c.424+1311C>T c.645C>T (p.Leu215=) c.*722C>T (n.*722C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48905081G>C | CA516359980 | SLC35A2 | c.828C>G (p.Leu276=) c.355-189C>G (n.355-189C>G) c.427-189C>G (n.427-189C>G) c.390C>G c.912C>G (p.Leu304=) c.867C>G (p.Leu289=) c.424+1311C>G c.645C>G (p.Leu215=) c.*722C>G (n.*722C>G) | |
| X | g.48905081G= | CA2428428863 | SLC35A2 | c.828C= (p.Leu276=) c.355-189C= (n.355-189C=) c.427-189C= (n.427-189C=) c.390C= c.912C= (p.Leu304=) c.867C= (p.Leu289=) c.424+1311C= c.645C= (p.Leu215=) c.*722C= (n.*722C=) | |
| X | g.48905081G>T | CA516359979 | SLC35A2 | c.828C>A (p.Leu276=) c.355-189C>A (n.355-189C>A) c.427-189C>A (n.427-189C>A) c.390C>A c.912C>A (p.Leu304=) c.867C>A (p.Leu289=) c.424+1311C>A c.645C>A (p.Leu215=) c.*722C>A (n.*722C>A) | |
| X | g.48905082A>C | CA412895132 | SLC35A2 | c.827T>G (p.Leu276Arg) c.355-190T>G (n.355-190T>G) c.427-190T>G (n.427-190T>G) c.389T>G c.911T>G (p.Leu304Arg) c.866T>G (p.Leu289Arg) c.424+1310T>G c.644T>G (p.Leu215Arg) c.*721T>G (n.*721T>G) | |
| X | g.48905082A>G | CA412895133 | SLC35A2 | c.827T>C (p.Leu276Pro) c.355-190T>C (n.355-190T>C) c.427-190T>C (n.427-190T>C) c.389T>C c.911T>C (p.Leu304Pro) c.866T>C (p.Leu289Pro) c.424+1310T>C c.644T>C (p.Leu215Pro) c.*721T>C (n.*721T>C) | |
| X | g.48905082A>T | CA412895134 | SLC35A2 | c.827T>A (p.Leu276His) c.355-190T>A (n.355-190T>A) c.427-190T>A (n.427-190T>A) c.389T>A c.911T>A (p.Leu304His) c.866T>A (p.Leu289His) c.424+1310T>A c.644T>A (p.Leu215His) c.*721T>A (n.*721T>A) | |
| X | g.48905083G>A | CA10406092 | SLC35A2 | c.826C>T (p.Leu276Phe) c.355-191C>T (n.355-191C>T) c.427-191C>T (n.427-191C>T) c.388C>T c.910C>T (p.Leu304Phe) c.865C>T (p.Leu289Phe) c.424+1309C>T c.643C>T (p.Leu215Phe) c.*720C>T (n.*720C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48905083G>C | CA412895135 | SLC35A2 | c.826C>G (p.Leu276Val) c.355-191C>G (n.355-191C>G) c.427-191C>G (n.427-191C>G) c.388C>G c.910C>G (p.Leu304Val) c.865C>G (p.Leu289Val) c.424+1309C>G c.643C>G (p.Leu215Val) c.*720C>G (n.*720C>G) | |
| X | g.48905083G= | CA2428428864 | SLC35A2 | c.826C= (p.Leu276=) c.355-191C= (n.355-191C=) c.427-191C= (n.427-191C=) c.388C= c.910C= (p.Leu304=) c.865C= (p.Leu289=) c.424+1309C= c.643C= (p.Leu215=) c.*720C= (n.*720C=) | |
| X | g.48905083G>T | CA412895136 | SLC35A2 | c.826C>A (p.Leu276Ile) c.355-191C>A (n.355-191C>A) c.427-191C>A (n.427-191C>A) c.388C>A c.910C>A (p.Leu304Ile) c.865C>A (p.Leu289Ile) c.424+1309C>A c.643C>A (p.Leu215Ile) c.*720C>A (n.*720C>A) | |
| X | g.48905084C>A | CA516359984 | SLC35A2 | c.825G>T (p.Val275=) c.355-192G>T (n.355-192G>T) c.427-192G>T (n.427-192G>T) c.387G>T c.909G>T (p.Val303=) c.864G>T (p.Val288=) c.424+1308G>T c.642G>T (p.Val214=) c.*719G>T (n.*719G>T) | |
| X | g.48905084C= | CA2428428865 | SLC35A2 | c.825G= (p.Val275=) c.355-192G= (n.355-192G=) c.427-192G= (n.427-192G=) c.387G= c.909G= (p.Val303=) c.864G= (p.Val288=) c.424+1308G= c.642G= (p.Val214=) c.*719G= (n.*719G=) | |
| X | g.48905084C>G | CA516359986 | SLC35A2 | c.825G>C (p.Val275=) c.355-192G>C (n.355-192G>C) c.427-192G>C (n.427-192G>C) c.387G>C c.909G>C (p.Val303=) c.864G>C (p.Val288=) c.424+1308G>C c.642G>C (p.Val214=) c.*719G>C (n.*719G>C) | ClinVar dbSNP gnomAD v4 |
| X | g.48905084C>T | CA516359985 | SLC35A2 | c.825G>A (p.Val275=) c.355-192G>A (n.355-192G>A) c.427-192G>A (n.427-192G>A) c.387G>A c.909G>A (p.Val303=) c.864G>A (p.Val288=) c.424+1308G>A c.642G>A (p.Val214=) c.*719G>A (n.*719G>A) | |
| X | g.48905085A>C | CA412895137 | SLC35A2 | c.824T>G (p.Val275Gly) c.355-193T>G (n.355-193T>G) c.427-193T>G (n.427-193T>G) c.386T>G c.908T>G (p.Val303Gly) c.863T>G (p.Val288Gly) c.424+1307T>G c.641T>G (p.Val214Gly) c.*718T>G (n.*718T>G) | |
| X | g.48905085A>G | CA412895138 | SLC35A2 | c.824T>C (p.Val275Ala) c.355-193T>C (n.355-193T>C) c.427-193T>C (n.427-193T>C) c.386T>C c.908T>C (p.Val303Ala) c.863T>C (p.Val288Ala) c.424+1307T>C c.641T>C (p.Val214Ala) c.*718T>C (n.*718T>C) | |
| X | g.48905085A>T | CA412895139 | SLC35A2 | c.824T>A (p.Val275Glu) c.355-193T>A (n.355-193T>A) c.427-193T>A (n.427-193T>A) c.386T>A c.908T>A (p.Val303Glu) c.863T>A (p.Val288Glu) c.424+1307T>A c.641T>A (p.Val214Glu) c.*718T>A (n.*718T>A) | |
| X | g.48905086C>A | CA412895142 | SLC35A2 | c.823G>T (p.Val275Leu) c.355-194G>T (n.355-194G>T) c.427-194G>T (n.427-194G>T) c.385G>T c.907G>T (p.Val303Leu) c.862G>T (p.Val288Leu) c.424+1306G>T c.640G>T (p.Val214Leu) c.*717G>T (n.*717G>T) | |
| X | g.48905086C>G | CA412895140 | SLC35A2 | c.823G>C (p.Val275Leu) c.355-194G>C (n.355-194G>C) c.427-194G>C (n.427-194G>C) c.385G>C c.907G>C (p.Val303Leu) c.862G>C (p.Val288Leu) c.424+1306G>C c.640G>C (p.Val214Leu) c.*717G>C (n.*717G>C) | |
| X | g.48905086C>T | CA412895141 | SLC35A2 | c.823G>A (p.Val275Met) c.355-194G>A (n.355-194G>A) c.427-194G>A (n.427-194G>A) c.385G>A c.907G>A (p.Val303Met) c.862G>A (p.Val288Met) c.424+1306G>A c.640G>A (p.Val214Met) c.*717G>A (n.*717G>A) | |
| X | g.48905087C>A | CA516359990 | SLC35A2 | c.822G>T (p.Val274=) c.355-195G>T (n.355-195G>T) c.427-195G>T (n.427-195G>T) c.384G>T c.906G>T (p.Val302=) c.861G>T (p.Val287=) c.424+1305G>T c.639G>T (p.Val213=) c.*716G>T (n.*716G>T) | |
| X | g.48905087C= | CA2428428866 | SLC35A2 | c.822G= (p.Val274=) c.355-195G= (n.355-195G=) c.427-195G= (n.427-195G=) c.384G= c.906G= (p.Val302=) c.861G= (p.Val287=) c.424+1305G= c.639G= (p.Val213=) c.*716G= (n.*716G=) | |
| X | g.48905087C>G | CA516359991 | SLC35A2 | c.822G>C (p.Val274=) c.355-195G>C (n.355-195G>C) c.427-195G>C (n.427-195G>C) c.384G>C c.906G>C (p.Val302=) c.861G>C (p.Val287=) c.424+1305G>C c.639G>C (p.Val213=) c.*716G>C (n.*716G>C) | |
| X | g.48905087C>T | CA10406093 | SLC35A2 | c.822G>A (p.Val274=) c.355-195G>A (n.355-195G>A) c.427-195G>A (n.427-195G>A) c.384G>A c.906G>A (p.Val302=) c.861G>A (p.Val287=) c.424+1305G>A c.639G>A (p.Val213=) c.*716G>A (n.*716G>A) | dbSNP ExAC gnomAD v2 |
| X | g.48905088A>C | CA412895143 | SLC35A2 | c.821T>G (p.Val274Gly) c.355-196T>G (n.355-196T>G) c.427-196T>G (n.427-196T>G) c.383T>G c.905T>G (p.Val302Gly) c.860T>G (p.Val287Gly) c.424+1304T>G c.638T>G (p.Val213Gly) c.*715T>G (n.*715T>G) | |
| X | g.48905088A>G | CA412895144 | SLC35A2 | c.821T>C (p.Val274Ala) c.355-196T>C (n.355-196T>C) c.427-196T>C (n.427-196T>C) c.383T>C c.905T>C (p.Val302Ala) c.860T>C (p.Val287Ala) c.424+1304T>C c.638T>C (p.Val213Ala) c.*715T>C (n.*715T>C) | COSMIC COSMIC |
| X | g.48905088A>T | CA412895145 | SLC35A2 | c.821T>A (p.Val274Glu) c.355-196T>A (n.355-196T>A) c.427-196T>A (n.427-196T>A) c.383T>A c.905T>A (p.Val302Glu) c.860T>A (p.Val287Glu) c.424+1304T>A c.638T>A (p.Val213Glu) c.*715T>A (n.*715T>A) | |
| X | g.48905089C>A | CA412895146 | SLC35A2 | c.820G>T (p.Val274Leu) c.355-197G>T (n.355-197G>T) c.427-197G>T (n.427-197G>T) c.382G>T c.904G>T (p.Val302Leu) c.859G>T (p.Val287Leu) c.424+1303G>T c.637G>T (p.Val213Leu) c.*714G>T (n.*714G>T) | dbSNP |
| X | g.48905089C= | CA2428428867 | SLC35A2 | c.820G= (p.Val274=) c.355-197G= (n.355-197G=) c.427-197G= (n.427-197G=) c.382G= c.904G= (p.Val302=) c.859G= (p.Val287=) c.424+1303G= c.637G= (p.Val213=) c.*714G= (n.*714G=) | |
| X | g.48905089C>G | CA412895147 | SLC35A2 | c.820G>C (p.Val274Leu) c.355-197G>C (n.355-197G>C) c.427-197G>C (n.427-197G>C) c.382G>C c.904G>C (p.Val302Leu) c.859G>C (p.Val287Leu) c.424+1303G>C c.637G>C (p.Val213Leu) c.*714G>C (n.*714G>C) | |
| X | g.48905089C>T | CA412895148 | SLC35A2 | c.820G>A (p.Val274Met) c.355-197G>A (n.355-197G>A) c.427-197G>A (n.427-197G>A) c.382G>A c.904G>A (p.Val302Met) c.859G>A (p.Val287Met) c.424+1303G>A c.637G>A (p.Val213Met) c.*714G>A (n.*714G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.48905090G>A | CA516359996 | SLC35A2 | c.819C>T (p.Gly273=) c.355-198C>T (n.355-198C>T) c.427-198C>T (n.427-198C>T) c.381C>T c.903C>T (p.Gly301=) c.858C>T (p.Gly286=) c.424+1302C>T c.636C>T (p.Gly212=) c.*713C>T (n.*713C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.48905090G>C | CA516359997 | SLC35A2 | c.819C>G (p.Gly273=) c.355-198C>G (n.355-198C>G) c.427-198C>G (n.427-198C>G) c.381C>G c.903C>G (p.Gly301=) c.858C>G (p.Gly286=) c.424+1302C>G c.636C>G (p.Gly212=) c.*713C>G (n.*713C>G) | ClinVar |
| X | g.48905090G= | CA2428428868 | SLC35A2 | c.819C= (p.Gly273=) c.355-198C= (n.355-198C=) c.427-198C= (n.427-198C=) c.381C= c.903C= (p.Gly301=) c.858C= (p.Gly286=) c.424+1302C= c.636C= (p.Gly212=) c.*713C= (n.*713C=) | |
| X | g.48905090G>T | CA516359998 | SLC35A2 | c.819C>A (p.Gly273=) c.355-198C>A (n.355-198C>A) c.427-198C>A (n.427-198C>A) c.381C>A c.903C>A (p.Gly301=) c.858C>A (p.Gly286=) c.424+1302C>A c.636C>A (p.Gly212=) c.*713C>A (n.*713C>A) | |
| X | g.48905091C>A | CA412895149 | SLC35A2 | c.818G>T (p.Gly273Val) c.355-199G>T (n.355-199G>T) c.427-199G>T (n.427-199G>T) c.380G>T c.902G>T (p.Gly301Val) c.857G>T (p.Gly286Val) c.424+1301G>T c.635G>T (p.Gly212Val) c.*712G>T (n.*712G>T) | |
| X | g.48905091C= | CA2428428869 | SLC35A2 | c.818G= (p.Gly273=) c.355-199G= (n.355-199G=) c.427-199G= (n.427-199G=) c.380G= c.902G= (p.Gly301=) c.857G= (p.Gly286=) c.424+1301G= c.635G= (p.Gly212=) c.*712G= (n.*712G=) | |
| X | g.48905091C>G | CA412895150 | SLC35A2 | c.818G>C (p.Gly273Ala) c.355-199G>C (n.355-199G>C) c.427-199G>C (n.427-199G>C) c.380G>C c.902G>C (p.Gly301Ala) c.857G>C (p.Gly286Ala) c.424+1301G>C c.635G>C (p.Gly212Ala) c.*712G>C (n.*712G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.48905091C>T | CA412895151 | SLC35A2 | c.818G>A (p.Gly273Asp) c.355-199G>A (n.355-199G>A) c.427-199G>A (n.427-199G>A) c.380G>A c.902G>A (p.Gly301Asp) c.857G>A (p.Gly286Asp) c.424+1301G>A c.635G>A (p.Gly212Asp) c.*712G>A (n.*712G>A) | ClinVar dbSNP |
| X | g.48905092C>A | CA412895153 | SLC35A2 | c.817G>T (p.Gly273Cys) c.355-200G>T (n.355-200G>T) c.427-200G>T (n.427-200G>T) c.379G>T c.901G>T (p.Gly301Cys) c.856G>T (p.Gly286Cys) c.424+1300G>T c.634G>T (p.Gly212Cys) c.*711G>T (n.*711G>T) | |
| X | g.48905092C>G | CA412895154 | SLC35A2 | c.817G>C (p.Gly273Arg) c.355-200G>C (n.355-200G>C) c.427-200G>C (n.427-200G>C) c.379G>C c.901G>C (p.Gly301Arg) c.856G>C (p.Gly286Arg) c.424+1300G>C c.634G>C (p.Gly212Arg) c.*711G>C (n.*711G>C) | |
| X | g.48905092C>T | CA412895152 | SLC35A2 | c.817G>A (p.Gly273Ser) c.355-200G>A (n.355-200G>A) c.427-200G>A (n.427-200G>A) c.379G>A c.901G>A (p.Gly301Ser) c.856G>A (p.Gly286Ser) c.424+1300G>A c.634G>A (p.Gly212Ser) c.*711G>A (n.*711G>A) | |
| X | g.48905093C>A | CA412895155 | SLC35A2 | c.816G>T (p.Trp272Cys) c.355-201G>T (n.355-201G>T) c.427-201G>T (n.427-201G>T) c.378G>T c.900G>T (p.Trp300Cys) c.855G>T (p.Trp285Cys) c.424+1299G>T c.633G>T (p.Trp211Cys) c.*710G>T (n.*710G>T) | |
| X | g.48905093C>G | CA412895156 | SLC35A2 | c.816G>C (p.Trp272Cys) c.355-201G>C (n.355-201G>C) c.427-201G>C (n.427-201G>C) c.378G>C c.900G>C (p.Trp300Cys) c.855G>C (p.Trp285Cys) c.424+1299G>C c.633G>C (p.Trp211Cys) c.*710G>C (n.*710G>C) | |
| X | g.48905093C>T | CA412895157 | SLC35A2 | c.816G>A (p.Trp272Ter) c.355-201G>A (n.355-201G>A) c.427-201G>A (n.427-201G>A) c.378G>A c.900G>A (p.Trp300Ter) c.855G>A (p.Trp285Ter) c.424+1299G>A c.633G>A (p.Trp211Ter) c.*710G>A (n.*710G>A) | |
| X | g.48905094C>A | CA10406094 | SLC35A2 | c.815G>T (p.Trp272Leu) c.355-202G>T (n.355-202G>T) c.427-202G>T (n.427-202G>T) c.377G>T c.899G>T (p.Trp300Leu) c.854G>T (p.Trp285Leu) c.424+1298G>T c.632G>T (p.Trp211Leu) c.*709G>T (n.*709G>T) | dbSNP ExAC gnomAD v2 COSMIC COSMIC |
| X | g.48905094C= | CA2428428870 | SLC35A2 | c.815G= (p.Trp272=) c.355-202G= (n.355-202G=) c.427-202G= (n.427-202G=) c.377G= c.899G= (p.Trp300=) c.854G= (p.Trp285=) c.424+1298G= c.632G= (p.Trp211=) c.*709G= (n.*709G=) | |
| X | g.48905094C>G | CA412895158 | SLC35A2 | c.815G>C (p.Trp272Ser) c.355-202G>C (n.355-202G>C) c.427-202G>C (n.427-202G>C) c.377G>C c.899G>C (p.Trp300Ser) c.854G>C (p.Trp285Ser) c.424+1298G>C c.632G>C (p.Trp211Ser) c.*709G>C (n.*709G>C) | |
| X | g.48905094C>T | CA412895159 | SLC35A2 | c.815G>A (p.Trp272Ter) c.355-202G>A (n.355-202G>A) c.427-202G>A (n.427-202G>A) c.377G>A c.899G>A (p.Trp300Ter) c.854G>A (p.Trp285Ter) c.424+1298G>A c.632G>A (p.Trp211Ter) c.*709G>A (n.*709G>A) | |
| X | g.48905095A>C | CA412895160 | SLC35A2 | c.814T>G (p.Trp272Gly) c.355-203T>G (n.355-203T>G) c.427-203T>G (n.427-203T>G) c.376T>G c.898T>G (p.Trp300Gly) c.853T>G (p.Trp285Gly) c.424+1297T>G c.631T>G (p.Trp211Gly) c.*708T>G (n.*708T>G) | |
| X | g.48905095A>G | CA412895161 | SLC35A2 | c.814T>C (p.Trp272Arg) c.355-203T>C (n.355-203T>C) c.427-203T>C (n.427-203T>C) c.376T>C c.898T>C (p.Trp300Arg) c.853T>C (p.Trp285Arg) c.424+1297T>C c.631T>C (p.Trp211Arg) c.*708T>C (n.*708T>C) | |
| X | g.48905095A>T | CA412895162 | SLC35A2 | c.814T>A (p.Trp272Arg) c.355-203T>A (n.355-203T>A) c.427-203T>A (n.427-203T>A) c.376T>A c.898T>A (p.Trp300Arg) c.853T>A (p.Trp285Arg) c.424+1297T>A c.631T>A (p.Trp211Arg) c.*708T>A (n.*708T>A) | |
| X | g.48905096G>A | CA516360006 | SLC35A2 | c.813C>T (p.Val271=) c.355-204C>T (n.355-204C>T) c.427-204C>T (n.427-204C>T) c.375C>T c.897C>T (p.Val299=) c.852C>T (p.Val284=) c.424+1296C>T c.630C>T (p.Val210=) c.*707C>T (n.*707C>T) | gnomAD v4 |
| X | g.48905096G>C | CA516360007 | SLC35A2 | c.813C>G (p.Val271=) c.355-204C>G (n.355-204C>G) c.427-204C>G (n.427-204C>G) c.375C>G c.897C>G (p.Val299=) c.852C>G (p.Val284=) c.424+1296C>G c.630C>G (p.Val210=) c.*707C>G (n.*707C>G) | |
| X | g.48905096G>T | CA516360008 | SLC35A2 | c.813C>A (p.Val271=) c.355-204C>A (n.355-204C>A) c.427-204C>A (n.427-204C>A) c.375C>A c.897C>A (p.Val299=) c.852C>A (p.Val284=) c.424+1296C>A c.630C>A (p.Val210=) c.*707C>A (n.*707C>A) | |
| X | g.48905097A>C | CA412895163 | SLC35A2 | c.812T>G (p.Val271Gly) c.355-205T>G (n.355-205T>G) c.427-205T>G (n.427-205T>G) c.374T>G c.896T>G (p.Val299Gly) c.851T>G (p.Val284Gly) c.424+1295T>G c.629T>G (p.Val210Gly) c.*706T>G (n.*706T>G) | |
| X | g.48905097A>G | CA412895164 | SLC35A2 | c.812T>C (p.Val271Ala) c.355-205T>C (n.355-205T>C) c.427-205T>C (n.427-205T>C) c.374T>C c.896T>C (p.Val299Ala) c.851T>C (p.Val284Ala) c.424+1295T>C c.629T>C (p.Val210Ala) c.*706T>C (n.*706T>C) | |
| X | g.48905097A>T | CA412895165 | SLC35A2 | c.812T>A (p.Val271Asp) c.355-205T>A (n.355-205T>A) c.427-205T>A (n.427-205T>A) c.374T>A c.896T>A (p.Val299Asp) c.851T>A (p.Val284Asp) c.424+1295T>A c.629T>A (p.Val210Asp) c.*706T>A (n.*706T>A) | |
| X | g.48905098C>A | CA412895168 | SLC35A2 | c.811G>T (p.Val271Phe) c.355-206G>T (n.355-206G>T) c.427-206G>T (n.427-206G>T) c.373G>T c.895G>T (p.Val299Phe) c.850G>T (p.Val284Phe) c.424+1294G>T c.628G>T (p.Val210Phe) c.*705G>T (n.*705G>T) | |
| X | g.48905098C>G | CA412895166 | SLC35A2 | c.811G>C (p.Val271Leu) c.355-206G>C (n.355-206G>C) c.427-206G>C (n.427-206G>C) c.373G>C c.895G>C (p.Val299Leu) c.850G>C (p.Val284Leu) c.424+1294G>C c.628G>C (p.Val210Leu) c.*705G>C (n.*705G>C) | gnomAD v4 |
| X | g.48905098C>T | CA412895167 | SLC35A2 | c.811G>A (p.Val271Ile) c.355-206G>A (n.355-206G>A) c.427-206G>A (n.427-206G>A) c.373G>A c.895G>A (p.Val299Ile) c.850G>A (p.Val284Ile) c.424+1294G>A c.628G>A (p.Val210Ile) c.*705G>A (n.*705G>A) | |
| X | g.48905099A= | CA2428428871 | SLC35A2 | c.810T= (p.Ala270=) c.355-207T= (n.355-207T=) c.427-207T= (n.427-207T=) c.372T= c.894T= (p.Ala298=) c.849T= (p.Ala283=) c.424+1293T= c.627T= (p.Ala209=) c.*704T= (n.*704T=) | |
| X | g.48905099A>C | CA516360011 | SLC35A2 | c.810T>G (p.Ala270=) c.355-207T>G (n.355-207T>G) c.427-207T>G (n.427-207T>G) c.372T>G c.894T>G (p.Ala298=) c.849T>G (p.Ala283=) c.424+1293T>G c.627T>G (p.Ala209=) c.*704T>G (n.*704T>G) | |
| X | g.48905099A>G | CA10406095 | SLC35A2 | c.810T>C (p.Ala270=) c.355-207T>C (n.355-207T>C) c.427-207T>C (n.427-207T>C) c.372T>C c.894T>C (p.Ala298=) c.849T>C (p.Ala283=) c.424+1293T>C c.627T>C (p.Ala209=) c.*704T>C (n.*704T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48905099A>T | CA516360012 | SLC35A2 | c.810T>A (p.Ala270=) c.355-207T>A (n.355-207T>A) c.427-207T>A (n.427-207T>A) c.372T>A c.894T>A (p.Ala298=) c.849T>A (p.Ala283=) c.424+1293T>A c.627T>A (p.Ala209=) c.*704T>A (n.*704T>A) | |
| X | g.48905100G>A | CA412895169 | SLC35A2 | c.809C>T (p.Ala270Val) c.355-208C>T (n.355-208C>T) c.427-208C>T (n.427-208C>T) c.371C>T c.893C>T (p.Ala298Val) c.848C>T (p.Ala283Val) c.424+1292C>T c.626C>T (p.Ala209Val) c.*703C>T (n.*703C>T) | gnomAD v4 COSMIC |
| X | g.48905100G>C | CA412895170 | SLC35A2 | c.809C>G (p.Ala270Gly) c.355-208C>G (n.355-208C>G) c.427-208C>G (n.427-208C>G) c.371C>G c.893C>G (p.Ala298Gly) c.848C>G (p.Ala283Gly) c.424+1292C>G c.626C>G (p.Ala209Gly) c.*703C>G (n.*703C>G) | |
| X | g.48905100G>T | CA412895171 | SLC35A2 | c.809C>A (p.Ala270Asp) c.355-208C>A (n.355-208C>A) c.427-208C>A (n.427-208C>A) c.371C>A c.893C>A (p.Ala298Asp) c.848C>A (p.Ala283Asp) c.424+1292C>A c.626C>A (p.Ala209Asp) c.*703C>A (n.*703C>A) | |
| X | g.48905101C>A | CA412895172 | SLC35A2 | c.808G>T (p.Ala270Ser) c.355-209G>T (n.355-209G>T) c.427-209G>T (n.427-209G>T) c.370G>T c.892G>T (p.Ala298Ser) c.847G>T (p.Ala283Ser) c.424+1291G>T c.625G>T (p.Ala209Ser) c.*702G>T (n.*702G>T) | |
| X | g.48905101C= | CA2428428872 | SLC35A2 | c.808G= (p.Ala270=) c.355-209G= (n.355-209G=) c.427-209G= (n.427-209G=) c.370G= c.892G= (p.Ala298=) c.847G= (p.Ala283=) c.424+1291G= c.625G= (p.Ala209=) c.*702G= (n.*702G=) | |
| X | g.48905101C>G | CA412895173 | SLC35A2 | c.808G>C (p.Ala270Pro) c.355-209G>C (n.355-209G>C) c.427-209G>C (n.427-209G>C) c.370G>C c.892G>C (p.Ala298Pro) c.847G>C (p.Ala283Pro) c.424+1291G>C c.625G>C (p.Ala209Pro) c.*702G>C (n.*702G>C) | |
| X | g.48905101C>T | CA412895174 | SLC35A2 | c.808G>A (p.Ala270Thr) c.355-209G>A (n.355-209G>A) c.427-209G>A (n.427-209G>A) c.370G>A c.892G>A (p.Ala298Thr) c.847G>A (p.Ala283Thr) c.424+1291G>A c.625G>A (p.Ala209Thr) c.*702G>A (n.*702G>A) | dbSNP |
| X | g.48905102A>C | CA516360016 | SLC35A2 | c.807T>G (p.Pro269=) c.355-210T>G (n.355-210T>G) c.427-210T>G (n.427-210T>G) c.369T>G c.891T>G (p.Pro297=) c.846T>G (p.Pro282=) c.424+1290T>G c.624T>G (p.Pro208=) c.*701T>G (n.*701T>G) | |
| X | g.48905102A>G | CA516360018 | SLC35A2 | c.807T>C (p.Pro269=) c.355-210T>C (n.355-210T>C) c.427-210T>C (n.427-210T>C) c.369T>C c.891T>C (p.Pro297=) c.846T>C (p.Pro282=) c.424+1290T>C c.624T>C (p.Pro208=) c.*701T>C (n.*701T>C) | |
| X | g.48905102A>T | CA516360019 | SLC35A2 | c.807T>A (p.Pro269=) c.355-210T>A (n.355-210T>A) c.427-210T>A (n.427-210T>A) c.369T>A c.891T>A (p.Pro297=) c.846T>A (p.Pro282=) c.424+1290T>A c.624T>A (p.Pro208=) c.*701T>A (n.*701T>A) | |
| X | g.48905103G>A | CA412895175 | SLC35A2 | c.806C>T (p.Pro269Leu) c.355-211C>T (n.355-211C>T) c.427-211C>T (n.427-211C>T) c.368C>T c.890C>T (p.Pro297Leu) c.845C>T (p.Pro282Leu) c.424+1289C>T c.623C>T (p.Pro208Leu) c.*700C>T (n.*700C>T) | |
| X | g.48905103G>C | CA412895176 | SLC35A2 | c.806C>G (p.Pro269Arg) c.355-211C>G (n.355-211C>G) c.427-211C>G (n.427-211C>G) c.368C>G c.890C>G (p.Pro297Arg) c.845C>G (p.Pro282Arg) c.424+1289C>G c.623C>G (p.Pro208Arg) c.*700C>G (n.*700C>G) | |
| X | g.48905103G>T | CA412895177 | SLC35A2 | c.806C>A (p.Pro269His) c.355-211C>A (n.355-211C>A) c.427-211C>A (n.427-211C>A) c.368C>A c.890C>A (p.Pro297His) c.845C>A (p.Pro282His) c.424+1289C>A c.623C>A (p.Pro208His) c.*700C>A (n.*700C>A) | |
| X | g.48905104G>A | CA412895178 | SLC35A2 | c.805C>T (p.Pro269Ser) c.355-212C>T (n.355-212C>T) c.427-212C>T (n.427-212C>T) c.367C>T c.889C>T (p.Pro297Ser) c.844C>T (p.Pro282Ser) c.424+1288C>T c.622C>T (p.Pro208Ser) c.*699C>T (n.*699C>T) | |
| X | g.48905104G>C | CA412895179 | SLC35A2 | c.805C>G (p.Pro269Ala) c.355-212C>G (n.355-212C>G) c.427-212C>G (n.427-212C>G) c.367C>G c.889C>G (p.Pro297Ala) c.844C>G (p.Pro282Ala) c.424+1288C>G c.622C>G (p.Pro208Ala) c.*699C>G (n.*699C>G) | |
| X | g.48905104G>T | CA412895180 | SLC35A2 | c.805C>A (p.Pro269Thr) c.355-212C>A (n.355-212C>A) c.427-212C>A (n.427-212C>A) c.367C>A c.889C>A (p.Pro297Thr) c.844C>A (p.Pro282Thr) c.424+1288C>A c.622C>A (p.Pro208Thr) c.*699C>A (n.*699C>A) | |
| X | g.48905105T>A | CA516360025 | SLC35A2 | c.804A>T (p.Thr268=) c.355-213A>T (n.355-213A>T) c.427-213A>T (n.427-213A>T) c.366A>T c.888A>T (p.Thr296=) c.843A>T (p.Thr281=) c.424+1287A>T c.621A>T (p.Thr207=) c.*698A>T (n.*698A>T) | |
| X | g.48905105T>C | CA516360023 | SLC35A2 | c.804A>G (p.Thr268=) c.355-213A>G (n.355-213A>G) c.427-213A>G (n.427-213A>G) c.366A>G c.888A>G (p.Thr296=) c.843A>G (p.Thr281=) c.424+1287A>G c.621A>G (p.Thr207=) c.*698A>G (n.*698A>G) | |
| X | g.48905105T>G | CA516360022 | SLC35A2 | c.804A>C (p.Thr268=) c.355-213A>C (n.355-213A>C) c.427-213A>C (n.427-213A>C) c.366A>C c.888A>C (p.Thr296=) c.843A>C (p.Thr281=) c.424+1287A>C c.621A>C (p.Thr207=) c.*698A>C (n.*698A>C) | |
| X | g.48905106G>A | CA412895182 | SLC35A2 | c.803C>T (p.Thr268Ile) c.355-214C>T (n.355-214C>T) c.427-214C>T (n.427-214C>T) c.365C>T c.887C>T (p.Thr296Ile) c.842C>T (p.Thr281Ile) c.424+1286C>T c.620C>T (p.Thr207Ile) c.*697C>T (n.*697C>T) | ClinVar dbSNP |
| X | g.48905106G>C | CA412895183 | SLC35A2 | c.803C>G (p.Thr268Arg) c.355-214C>G (n.355-214C>G) c.427-214C>G (n.427-214C>G) c.365C>G c.887C>G (p.Thr296Arg) c.842C>G (p.Thr281Arg) c.424+1286C>G c.620C>G (p.Thr207Arg) c.*697C>G (n.*697C>G) | |
| X | g.48905106G>T | CA412895181 | SLC35A2 | c.803C>A (p.Thr268Lys) c.355-214C>A (n.355-214C>A) c.427-214C>A (n.427-214C>A) c.365C>A c.887C>A (p.Thr296Lys) c.842C>A (p.Thr281Lys) c.424+1286C>A c.620C>A (p.Thr207Lys) c.*697C>A (n.*697C>A) | |
| X | g.48905107T>A | CA412895186 | SLC35A2 | c.802A>T (p.Thr268Ser) c.355-215A>T (n.355-215A>T) c.427-215A>T (n.427-215A>T) c.364A>T c.886A>T (p.Thr296Ser) c.841A>T (p.Thr281Ser) c.424+1285A>T c.619A>T (p.Thr207Ser) c.*696A>T (n.*696A>T) | |
| X | g.48905107T>C | CA412895184 | SLC35A2 | c.802A>G (p.Thr268Ala) c.355-215A>G (n.355-215A>G) c.427-215A>G (n.427-215A>G) c.364A>G c.886A>G (p.Thr296Ala) c.841A>G (p.Thr281Ala) c.424+1285A>G c.619A>G (p.Thr207Ala) c.*696A>G (n.*696A>G) | |
| X | g.48905107T>G | CA412895185 | SLC35A2 | c.802A>C (p.Thr268Pro) c.355-215A>C (n.355-215A>C) c.427-215A>C (n.427-215A>C) c.364A>C c.886A>C (p.Thr296Pro) c.841A>C (p.Thr281Pro) c.424+1285A>C c.619A>C (p.Thr207Pro) c.*696A>C (n.*696A>C) | |
| X | g.48905108G>A | CA10406096 | SLC35A2 | c.801C>T (p.Tyr267=) c.355-216C>T (n.355-216C>T) c.427-216C>T (n.427-216C>T) c.363C>T c.885C>T (p.Tyr295=) c.840C>T (p.Tyr280=) c.424+1284C>T c.618C>T (p.Tyr206=) c.*695C>T (n.*695C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48905108G>C | CA412895187 | SLC35A2 | c.801C>G (p.Tyr267Ter) c.355-216C>G (n.355-216C>G) c.427-216C>G (n.427-216C>G) c.363C>G c.885C>G (p.Tyr295Ter) c.840C>G (p.Tyr280Ter) c.424+1284C>G c.618C>G (p.Tyr206Ter) c.*695C>G (n.*695C>G) | |
| X | g.48905108G= | CA2428428873 | SLC35A2 | c.801C= (p.Tyr267=) c.355-216C= (n.355-216C=) c.427-216C= (n.427-216C=) c.363C= c.885C= (p.Tyr295=) c.840C= (p.Tyr280=) c.424+1284C= c.618C= (p.Tyr206=) c.*695C= (n.*695C=) | |
| X | g.48905108G>T | CA412895188 | SLC35A2 | c.801C>A (p.Tyr267Ter) c.355-216C>A (n.355-216C>A) c.427-216C>A (n.427-216C>A) c.363C>A c.885C>A (p.Tyr295Ter) c.840C>A (p.Tyr280Ter) c.424+1284C>A c.618C>A (p.Tyr206Ter) c.*695C>A (n.*695C>A) | |
| X | g.48905109T>A | CA412895189 | SLC35A2 | c.800A>T (p.Tyr267Phe) c.355-217A>T (n.355-217A>T) c.427-217A>T (n.427-217A>T) c.362A>T c.884A>T (p.Tyr295Phe) c.839A>T (p.Tyr280Phe) c.424+1283A>T c.617A>T (p.Tyr206Phe) c.*694A>T (n.*694A>T) | |
| X | g.48905109T>C | CA357924 | SLC35A2 | c.800A>G (p.Tyr267Cys) c.355-217A>G (n.355-217A>G) c.427-217A>G (n.427-217A>G) c.362A>G c.884A>G (p.Tyr295Cys) c.839A>G (p.Tyr280Cys) c.424+1283A>G c.617A>G (p.Tyr206Cys) c.*694A>G (n.*694A>G) | ClinVar dbSNP |
| X | g.48905109T>G | CA412895190 | SLC35A2 | c.800A>C (p.Tyr267Ser) c.355-217A>C (n.355-217A>C) c.427-217A>C (n.427-217A>C) c.362A>C c.884A>C (p.Tyr295Ser) c.839A>C (p.Tyr280Ser) c.424+1283A>C c.617A>C (p.Tyr206Ser) c.*694A>C (n.*694A>C) | |
| X | g.48905109T= | CA2428428874 | SLC35A2 | c.800A= (p.Tyr267=) c.355-217A= (n.355-217A=) c.427-217A= (n.427-217A=) c.362A= c.884A= (p.Tyr295=) c.839A= (p.Tyr280=) c.424+1283A= c.617A= (p.Tyr206=) c.*694A= (n.*694A=) | |
| X | g.48905110A>C | CA412895191 | SLC35A2 | c.799T>G (p.Tyr267Asp) c.355-218T>G (n.355-218T>G) c.427-218T>G (n.427-218T>G) c.361T>G c.883T>G (p.Tyr295Asp) c.838T>G (p.Tyr280Asp) c.424+1282T>G c.616T>G (p.Tyr206Asp) c.*693T>G (n.*693T>G) | |
| X | g.48905110A>G | CA412895192 | SLC35A2 | c.799T>C (p.Tyr267His) c.355-218T>C (n.355-218T>C) c.427-218T>C (n.427-218T>C) c.361T>C c.883T>C (p.Tyr295His) c.838T>C (p.Tyr280His) c.424+1282T>C c.616T>C (p.Tyr206His) c.*693T>C (n.*693T>C) | |
| X | g.48905110A>T | CA412895193 | SLC35A2 | c.799T>A (p.Tyr267Asn) c.355-218T>A (n.355-218T>A) c.427-218T>A (n.427-218T>A) c.361T>A c.883T>A (p.Tyr295Asn) c.838T>A (p.Tyr280Asn) c.424+1282T>A c.616T>A (p.Tyr206Asn) c.*693T>A (n.*693T>A) | |
| X | g.48905111C>A | CA516360032 | SLC35A2 | c.798G>T (p.Gly266=) c.355-219G>T (n.355-219G>T) c.427-219G>T (n.427-219G>T) c.360G>T c.882G>T (p.Gly294=) c.837G>T (p.Gly279=) c.424+1281G>T c.615G>T (p.Gly205=) c.*692G>T (n.*692G>T) | |
| X | g.48905111C>G | CA516360036 | SLC35A2 | c.798G>C (p.Gly266=) c.355-219G>C (n.355-219G>C) c.427-219G>C (n.427-219G>C) c.360G>C c.882G>C (p.Gly294=) c.837G>C (p.Gly279=) c.424+1281G>C c.615G>C (p.Gly205=) c.*692G>C (n.*692G>C) | |
| X | g.48905111C>T | CA516360034 | SLC35A2 | c.798G>A (p.Gly266=) c.355-219G>A (n.355-219G>A) c.427-219G>A (n.427-219G>A) c.360G>A c.882G>A (p.Gly294=) c.837G>A (p.Gly279=) c.424+1281G>A c.615G>A (p.Gly205=) c.*692G>A (n.*692G>A) | gnomAD v4 |
| X | g.48905112C>A | CA412895196 | SLC35A2 | c.797G>T (p.Gly266Val) c.355-220G>T (n.355-220G>T) c.427-220G>T (n.427-220G>T) c.359G>T c.881G>T (p.Gly294Val) c.836G>T (p.Gly279Val) c.424+1280G>T c.614G>T (p.Gly205Val) c.*691G>T (n.*691G>T) | |
| X | g.48905112C>G | CA412895195 | SLC35A2 | c.797G>C (p.Gly266Ala) c.355-220G>C (n.355-220G>C) c.427-220G>C (n.427-220G>C) c.359G>C c.881G>C (p.Gly294Ala) c.836G>C (p.Gly279Ala) c.424+1280G>C c.614G>C (p.Gly205Ala) c.*691G>C (n.*691G>C) | |
| X | g.48905112C>T | CA412895194 | SLC35A2 | c.797G>A (p.Gly266Glu) c.355-220G>A (n.355-220G>A) c.427-220G>A (n.427-220G>A) c.359G>A c.881G>A (p.Gly294Glu) c.836G>A (p.Gly279Glu) c.424+1280G>A c.614G>A (p.Gly205Glu) c.*691G>A (n.*691G>A) | |
| X | g.48905113C>A | CA412895197 | SLC35A2 | c.796G>T (p.Gly266Trp) c.355-221G>T (n.355-221G>T) c.427-221G>T (n.427-221G>T) c.358G>T c.880G>T (p.Gly294Trp) c.835G>T (p.Gly279Trp) c.424+1279G>T c.613G>T (p.Gly205Trp) c.*690G>T (n.*690G>T) | gnomAD v4 |
| X | g.48905113C>G | CA412895198 | SLC35A2 | c.796G>C (p.Gly266Arg) c.355-221G>C (n.355-221G>C) c.427-221G>C (n.427-221G>C) c.358G>C c.880G>C (p.Gly294Arg) c.835G>C (p.Gly279Arg) c.424+1279G>C c.613G>C (p.Gly205Arg) c.*690G>C (n.*690G>C) | |
| X | g.48905113C>T | CA412895199 | SLC35A2 | c.796G>A (p.Gly266Arg) c.355-221G>A (n.355-221G>A) c.427-221G>A (n.427-221G>A) c.358G>A c.880G>A (p.Gly294Arg) c.835G>A (p.Gly279Arg) c.424+1279G>A c.613G>A (p.Gly205Arg) c.*690G>A (n.*690G>A) | |
| X | g.48905113_48905114delinsCA | CA2428428875 | SLC35A2 | c.795_796delinsTG (p.Phe265=) c.355-222_355-221delinsTG (n.355-222_355-221delinsTG) c.427-222_427-221delinsTG (n.427-222_427-221delinsTG) c.357_358delinsTG c.879_880delinsTG (p.Phe293=) c.834_835delinsTG (p.Phe278=) c.424+1278_424+1279delinsTG c.612_613delinsTG (p.Phe204=) c.*689_*690delinsTG (n.*689_*690delinsTG) | |
| X | g.48905114A>C | CA412895200 | SLC35A2 | c.795T>G (p.Phe265Leu) c.355-222T>G (n.355-222T>G) c.427-222T>G (n.427-222T>G) c.357T>G c.879T>G (p.Phe293Leu) c.834T>G (p.Phe278Leu) c.424+1278T>G c.612T>G (p.Phe204Leu) c.*689T>G (n.*689T>G) | |
| X | g.48905114A>G | CA516360042 | SLC35A2 | c.795T>C (p.Phe265=) c.355-222T>C (n.355-222T>C) c.427-222T>C (n.427-222T>C) c.357T>C c.879T>C (p.Phe293=) c.834T>C (p.Phe278=) c.424+1278T>C c.612T>C (p.Phe204=) c.*689T>C (n.*689T>C) | |
| X | g.48905114A>T | CA412895201 | SLC35A2 | c.795T>A (p.Phe265Leu) c.355-222T>A (n.355-222T>A) c.427-222T>A (n.427-222T>A) c.357T>A c.879T>A (p.Phe293Leu) c.834T>A (p.Phe278Leu) c.424+1278T>A c.612T>A (p.Phe204Leu) c.*689T>A (n.*689T>A) | |
| X | g.48905119dup | CA2580101089 | SLC35A2 | c.795dup (p.Gly266TrpfsTer28) c.355-222dup (n.355-222dup) c.427-222dup (n.427-222dup) c.357dup c.879dup (p.Gly294TrpfsTer28) c.834dup (p.Gly279TrpfsTer28) c.424+1278dup c.612dup (p.Gly205TrpfsTer28) c.*689dup (n.*689dup) | ClinVar |
| X | g.48905119del | CA658799742 | SLC35A2 | c.795del (p.Phe265LeufsTer?) c.355-222del (n.355-222del) c.427-222del (n.427-222del) c.357del c.879del (p.Phe293LeufsTer?) c.834del (p.Phe278LeufsTer?) c.424+1278del c.612del (p.Phe204LeufsTer?) c.*689del (n.*689del) | ClinVar dbSNP |
| X | g.48905115A>C | CA412895202 | SLC35A2 | c.794T>G (p.Phe265Cys) c.355-223T>G (n.355-223T>G) c.427-223T>G (n.427-223T>G) c.356T>G c.878T>G (p.Phe293Cys) c.833T>G (p.Phe278Cys) c.424+1277T>G c.611T>G (p.Phe204Cys) c.*688T>G (n.*688T>G) | |
| X | g.48905115A>G | CA412895203 | SLC35A2 | c.794T>C (p.Phe265Ser) c.355-223T>C (n.355-223T>C) c.427-223T>C (n.427-223T>C) c.356T>C c.878T>C (p.Phe293Ser) c.833T>C (p.Phe278Ser) c.424+1277T>C c.611T>C (p.Phe204Ser) c.*688T>C (n.*688T>C) | |
| X | g.48905115A>T | CA412895204 | SLC35A2 | c.794T>A (p.Phe265Tyr) c.355-223T>A (n.355-223T>A) c.427-223T>A (n.427-223T>A) c.356T>A c.878T>A (p.Phe293Tyr) c.833T>A (p.Phe278Tyr) c.424+1277T>A c.611T>A (p.Phe204Tyr) c.*688T>A (n.*688T>A) | |
| X | g.48905116A>C | CA412895205 | SLC35A2 | c.793T>G (p.Phe265Val) c.355-224T>G (n.355-224T>G) c.427-224T>G (n.427-224T>G) c.355T>G c.877T>G (p.Phe293Val) c.832T>G (p.Phe278Val) c.424+1276T>G c.610T>G (p.Phe204Val) c.*687T>G (n.*687T>G) | |
| X | g.48905116A>G | CA412895206 | SLC35A2 | c.793T>C (p.Phe265Leu) c.355-224T>C (n.355-224T>C) c.427-224T>C (n.427-224T>C) c.355T>C c.877T>C (p.Phe293Leu) c.832T>C (p.Phe278Leu) c.424+1276T>C c.610T>C (p.Phe204Leu) c.*687T>C (n.*687T>C) | |
| X | g.48905116A>T | CA412895207 | SLC35A2 | c.793T>A (p.Phe265Ile) c.355-224T>A (n.355-224T>A) c.427-224T>A (n.427-224T>A) c.355T>A c.877T>A (p.Phe293Ile) c.832T>A (p.Phe278Ile) c.424+1276T>A c.610T>A (p.Phe204Ile) c.*687T>A (n.*687T>A) | |
| X | g.48905117A>C | CA412895208 | SLC35A2 | c.792T>G (p.Phe264Leu) c.355-225T>G (n.355-225T>G) c.427-225T>G (n.427-225T>G) c.354T>G c.876T>G (p.Phe292Leu) c.831T>G (p.Phe277Leu) c.424+1275T>G c.609T>G (p.Phe203Leu) c.*686T>G (n.*686T>G) | |
| X | g.48905117A>G | CA516360047 | SLC35A2 | c.792T>C (p.Phe264=) c.355-225T>C (n.355-225T>C) c.427-225T>C (n.427-225T>C) c.354T>C c.876T>C (p.Phe292=) c.831T>C (p.Phe277=) c.424+1275T>C c.609T>C (p.Phe203=) c.*686T>C (n.*686T>C) | |
| X | g.48905117A>T | CA412895209 | SLC35A2 | c.792T>A (p.Phe264Leu) c.355-225T>A (n.355-225T>A) c.427-225T>A (n.427-225T>A) c.354T>A c.876T>A (p.Phe292Leu) c.831T>A (p.Phe277Leu) c.424+1275T>A c.609T>A (p.Phe203Leu) c.*686T>A (n.*686T>A) | |
| X | g.48905118A>C | CA412895211 | SLC35A2 | c.791T>G (p.Phe264Cys) c.355-226T>G (n.355-226T>G) c.427-226T>G (n.427-226T>G) c.353T>G c.875T>G (p.Phe292Cys) c.830T>G (p.Phe277Cys) c.424+1274T>G c.608T>G (p.Phe203Cys) c.*685T>G (n.*685T>G) | |
| X | g.48905118A>G | CA412895212 | SLC35A2 | c.791T>C (p.Phe264Ser) c.355-226T>C (n.355-226T>C) c.427-226T>C (n.427-226T>C) c.353T>C c.875T>C (p.Phe292Ser) c.830T>C (p.Phe277Ser) c.424+1274T>C c.608T>C (p.Phe203Ser) c.*685T>C (n.*685T>C) | |
| X | g.48905118A>T | CA412895210 | SLC35A2 | c.791T>A (p.Phe264Tyr) c.355-226T>A (n.355-226T>A) c.427-226T>A (n.427-226T>A) c.353T>A c.875T>A (p.Phe292Tyr) c.830T>A (p.Phe277Tyr) c.424+1274T>A c.608T>A (p.Phe203Tyr) c.*685T>A (n.*685T>A) | |
| X | g.48905119A>C | CA412895213 | SLC35A2 | c.790T>G (p.Phe264Val) c.355-227T>G (n.355-227T>G) c.427-227T>G (n.427-227T>G) c.352T>G c.874T>G (p.Phe292Val) c.829T>G (p.Phe277Val) c.424+1273T>G c.607T>G (p.Phe203Val) c.*684T>G (n.*684T>G) | |
| X | g.48905119A>G | CA412895214 | SLC35A2 | c.790T>C (p.Phe264Leu) c.355-227T>C (n.355-227T>C) c.427-227T>C (n.427-227T>C) c.352T>C c.874T>C (p.Phe292Leu) c.829T>C (p.Phe277Leu) c.424+1273T>C c.607T>C (p.Phe203Leu) c.*684T>C (n.*684T>C) | |
| X | g.48905119A>T | CA412895215 | SLC35A2 | c.790T>A (p.Phe264Ile) c.355-227T>A (n.355-227T>A) c.427-227T>A (n.427-227T>A) c.352T>A c.874T>A (p.Phe292Ile) c.829T>A (p.Phe277Ile) c.424+1273T>A c.607T>A (p.Phe203Ile) c.*684T>A (n.*684T>A) | |
| X | g.48905120G>A | CA516360053 | SLC35A2 | c.789C>T (p.Phe263=) c.355-228C>T (n.355-228C>T) c.427-228C>T (n.427-228C>T) c.351C>T c.873C>T (p.Phe291=) c.828C>T (p.Phe276=) c.424+1272C>T c.606C>T (p.Phe202=) c.*683C>T (n.*683C>T) | |
| X | g.48905120G>C | CA412895216 | SLC35A2 | c.789C>G (p.Phe263Leu) c.355-228C>G (n.355-228C>G) c.427-228C>G (n.427-228C>G) c.351C>G c.873C>G (p.Phe291Leu) c.828C>G (p.Phe276Leu) c.424+1272C>G c.606C>G (p.Phe202Leu) c.*683C>G (n.*683C>G) | gnomAD v4 |
| X | g.48905120G>T | CA412895217 | SLC35A2 | c.789C>A (p.Phe263Leu) c.355-228C>A (n.355-228C>A) c.427-228C>A (n.427-228C>A) c.351C>A c.873C>A (p.Phe291Leu) c.828C>A (p.Phe276Leu) c.424+1272C>A c.606C>A (p.Phe202Leu) c.*683C>A (n.*683C>A) | |
| X | g.48905121A>C | CA412895220 | SLC35A2 | c.788T>G (p.Phe263Cys) c.355-229T>G (n.355-229T>G) c.427-229T>G (n.427-229T>G) c.350T>G c.872T>G (p.Phe291Cys) c.827T>G (p.Phe276Cys) c.424+1271T>G c.605T>G (p.Phe202Cys) c.*682T>G (n.*682T>G) | |
| X | g.48905121A>G | CA412895219 | SLC35A2 | c.788T>C (p.Phe263Ser) c.355-229T>C (n.355-229T>C) c.427-229T>C (n.427-229T>C) c.350T>C c.872T>C (p.Phe291Ser) c.827T>C (p.Phe276Ser) c.424+1271T>C c.605T>C (p.Phe202Ser) c.*682T>C (n.*682T>C) | |
| X | g.48905121A>T | CA412895218 | SLC35A2 | c.788T>A (p.Phe263Tyr) c.355-229T>A (n.355-229T>A) c.427-229T>A (n.427-229T>A) c.350T>A c.872T>A (p.Phe291Tyr) c.827T>A (p.Phe276Tyr) c.424+1271T>A c.605T>A (p.Phe202Tyr) c.*682T>A (n.*682T>A) |