Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.48904927C>A | CA412894582 | SLC35A2 | c.982G>T (p.Ala328Ser) c.355-35G>T (n.355-35G>T) c.427-35G>T (n.427-35G>T) c.544G>T c.1066G>T (p.Ala356Ser) c.1021G>T (p.Ala341Ser) c.425-1462G>T c.799G>T (p.Ala267Ser) c.*876G>T (n.*876G>T) | |
X | g.48904927C= | CA2428428824 | SLC35A2 | c.982G= (p.Ala328=) c.355-35G= (n.355-35G=) c.427-35G= (n.427-35G=) c.544G= c.1066G= (p.Ala356=) c.1021G= (p.Ala341=) c.425-1462G= c.799G= (p.Ala267=) c.*876G= (n.*876G=) | |
X | g.48904927C>G | CA412894583 | SLC35A2 | c.982G>C (p.Ala328Pro) c.355-35G>C (n.355-35G>C) c.427-35G>C (n.427-35G>C) c.544G>C c.1066G>C (p.Ala356Pro) c.1021G>C (p.Ala341Pro) c.425-1462G>C c.799G>C (p.Ala267Pro) c.*876G>C (n.*876G>C) | |
X | g.48904927C>T | CA10406077 | SLC35A2 | c.982G>A (p.Ala328Thr) c.355-35G>A (n.355-35G>A) c.427-35G>A (n.427-35G>A) c.544G>A c.1066G>A (p.Ala356Thr) c.1021G>A (p.Ala341Thr) c.425-1462G>A c.799G>A (p.Ala267Thr) c.*876G>A (n.*876G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
X | g.48904928G>A | CA10406078 | SLC35A2 | c.981C>T (p.Gly327=) c.355-36C>T (n.355-36C>T) c.427-36C>T (n.427-36C>T) c.543C>T c.1065C>T (p.Gly355=) c.1020C>T (p.Gly340=) c.425-1463C>T c.798C>T (p.Gly266=) c.*875C>T (n.*875C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904928G>C | CA516359849 | SLC35A2 | c.981C>G (p.Gly327=) c.355-36C>G (n.355-36C>G) c.427-36C>G (n.427-36C>G) c.543C>G c.1065C>G (p.Gly355=) c.1020C>G (p.Gly340=) c.425-1463C>G c.798C>G (p.Gly266=) c.*875C>G (n.*875C>G) | |
X | g.48904928G= | CA2428428825 | SLC35A2 | c.981C= (p.Gly327=) c.355-36C= (n.355-36C=) c.427-36C= (n.427-36C=) c.543C= c.1065C= (p.Gly355=) c.1020C= (p.Gly340=) c.425-1463C= c.798C= (p.Gly266=) c.*875C= (n.*875C=) | |
X | g.48904928G>T | CA516359850 | SLC35A2 | c.981C>A (p.Gly327=) c.355-36C>A (n.355-36C>A) c.427-36C>A (n.427-36C>A) c.543C>A c.1065C>A (p.Gly355=) c.1020C>A (p.Gly340=) c.425-1463C>A c.798C>A (p.Gly266=) c.*875C>A (n.*875C>A) | |
X | g.48904929C>A | CA412894584 | SLC35A2 | c.980G>T (p.Gly327Val) c.355-37G>T (n.355-37G>T) c.427-37G>T (n.427-37G>T) c.542G>T c.1064G>T (p.Gly355Val) c.1019G>T (p.Gly340Val) c.425-1464G>T c.797G>T (p.Gly266Val) c.*874G>T (n.*874G>T) | |
X | g.48904929C>G | CA412894585 | SLC35A2 | c.980G>C (p.Gly327Ala) c.355-37G>C (n.355-37G>C) c.427-37G>C (n.427-37G>C) c.542G>C c.1064G>C (p.Gly355Ala) c.1019G>C (p.Gly340Ala) c.425-1464G>C c.797G>C (p.Gly266Ala) c.*874G>C (n.*874G>C) | |
X | g.48904929C>T | CA412894586 | SLC35A2 | c.980G>A (p.Gly327Asp) c.355-37G>A (n.355-37G>A) c.427-37G>A (n.427-37G>A) c.542G>A c.1064G>A (p.Gly355Asp) c.1019G>A (p.Gly340Asp) c.425-1464G>A c.797G>A (p.Gly266Asp) c.*874G>A (n.*874G>A) | |
X | g.48904930C>A | CA412894587 | SLC35A2 | c.979G>T (p.Gly327Cys) c.355-38G>T (n.355-38G>T) c.427-38G>T (n.427-38G>T) c.541G>T c.1063G>T (p.Gly355Cys) c.1018G>T (p.Gly340Cys) c.424+1462G>T c.796G>T (p.Gly266Cys) c.*873G>T (n.*873G>T) | |
X | g.48904930C>G | CA412894588 | SLC35A2 | c.979G>C (p.Gly327Arg) c.355-38G>C (n.355-38G>C) c.427-38G>C (n.427-38G>C) c.541G>C c.1063G>C (p.Gly355Arg) c.1018G>C (p.Gly340Arg) c.424+1462G>C c.796G>C (p.Gly266Arg) c.*873G>C (n.*873G>C) | |
X | g.48904930C>T | CA412894589 | SLC35A2 | c.979G>A (p.Gly327Ser) c.355-38G>A (n.355-38G>A) c.427-38G>A (n.427-38G>A) c.541G>A c.1063G>A (p.Gly355Ser) c.1018G>A (p.Gly340Ser) c.424+1462G>A c.796G>A (p.Gly266Ser) c.*873G>A (n.*873G>A) | gnomAD v4 |
X | g.48904931A= | CA2428428826 | SLC35A2 | c.978T= (p.Leu326=) c.355-39T= (n.355-39T=) c.427-39T= (n.427-39T=) c.540T= c.1062T= (p.Leu354=) c.1017T= (p.Leu339=) c.424+1461T= c.795T= (p.Leu265=) c.*872T= (n.*872T=) | |
X | g.48904931A>C | CA516359851 | SLC35A2 | c.978T>G (p.Leu326=) c.355-39T>G (n.355-39T>G) c.427-39T>G (n.427-39T>G) c.540T>G c.1062T>G (p.Leu354=) c.1017T>G (p.Leu339=) c.424+1461T>G c.795T>G (p.Leu265=) c.*872T>G (n.*872T>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48904931A>G | CA516359852 | SLC35A2 | c.978T>C (p.Leu326=) c.355-39T>C (n.355-39T>C) c.427-39T>C (n.427-39T>C) c.540T>C c.1062T>C (p.Leu354=) c.1017T>C (p.Leu339=) c.424+1461T>C c.795T>C (p.Leu265=) c.*872T>C (n.*872T>C) | |
X | g.48904931A>T | CA516359853 | SLC35A2 | c.978T>A (p.Leu326=) c.355-39T>A (n.355-39T>A) c.427-39T>A (n.427-39T>A) c.540T>A c.1062T>A (p.Leu354=) c.1017T>A (p.Leu339=) c.424+1461T>A c.795T>A (p.Leu265=) c.*872T>A (n.*872T>A) | |
X | g.48904932A>C | CA412894590 | SLC35A2 | c.977T>G (p.Leu326Arg) c.355-40T>G (n.355-40T>G) c.427-40T>G (n.427-40T>G) c.539T>G c.1061T>G (p.Leu354Arg) c.1016T>G (p.Leu339Arg) c.424+1460T>G c.794T>G (p.Leu265Arg) c.*871T>G (n.*871T>G) | |
X | g.48904932A>G | CA412894592 | SLC35A2 | c.977T>C (p.Leu326Pro) c.355-40T>C (n.355-40T>C) c.427-40T>C (n.427-40T>C) c.539T>C c.1061T>C (p.Leu354Pro) c.1016T>C (p.Leu339Pro) c.424+1460T>C c.794T>C (p.Leu265Pro) c.*871T>C (n.*871T>C) | |
X | g.48904932A>T | CA412894591 | SLC35A2 | c.977T>A (p.Leu326His) c.355-40T>A (n.355-40T>A) c.427-40T>A (n.427-40T>A) c.539T>A c.1061T>A (p.Leu354His) c.1016T>A (p.Leu339His) c.424+1460T>A c.794T>A (p.Leu265His) c.*871T>A (n.*871T>A) | |
X | g.48904933G>A | CA412894593 | SLC35A2 | c.976C>T (p.Leu326Phe) c.355-41C>T (n.355-41C>T) c.427-41C>T (n.427-41C>T) c.538C>T c.1060C>T (p.Leu354Phe) c.1015C>T (p.Leu339Phe) c.424+1459C>T c.793C>T (p.Leu265Phe) c.*870C>T (n.*870C>T) | gnomAD v4 |
X | g.48904933G>C | CA412894594 | SLC35A2 | c.976C>G (p.Leu326Val) c.355-41C>G (n.355-41C>G) c.427-41C>G (n.427-41C>G) c.538C>G c.1060C>G (p.Leu354Val) c.1015C>G (p.Leu339Val) c.424+1459C>G c.793C>G (p.Leu265Val) c.*870C>G (n.*870C>G) | |
X | g.48904933G>T | CA412894595 | SLC35A2 | c.976C>A (p.Leu326Ile) c.355-41C>A (n.355-41C>A) c.427-41C>A (n.427-41C>A) c.538C>A c.1060C>A (p.Leu354Ile) c.1015C>A (p.Leu339Ile) c.424+1459C>A c.793C>A (p.Leu265Ile) c.*870C>A (n.*870C>A) | gnomAD v4 |
X | g.48904934G>A | CA516359854 | SLC35A2 | c.975C>T (p.Ala325=) c.355-42C>T (n.355-42C>T) c.427-42C>T (n.427-42C>T) c.537C>T c.1059C>T (p.Ala353=) c.1014C>T (p.Ala338=) c.424+1458C>T c.792C>T (p.Ala264=) c.*869C>T (n.*869C>T) | COSMIC |
X | g.48904934G>C | CA516359855 | SLC35A2 | c.975C>G (p.Ala325=) c.355-42C>G (n.355-42C>G) c.427-42C>G (n.427-42C>G) c.537C>G c.1059C>G (p.Ala353=) c.1014C>G (p.Ala338=) c.424+1458C>G c.792C>G (p.Ala264=) c.*869C>G (n.*869C>G) | |
X | g.48904934G>T | CA516359856 | SLC35A2 | c.975C>A (p.Ala325=) c.355-42C>A (n.355-42C>A) c.427-42C>A (n.427-42C>A) c.537C>A c.1059C>A (p.Ala353=) c.1014C>A (p.Ala338=) c.424+1458C>A c.792C>A (p.Ala264=) c.*869C>A (n.*869C>A) | |
X | g.48904935G>A | CA412894596 | SLC35A2 | c.974C>T (p.Ala325Val) c.355-43C>T (n.355-43C>T) c.427-43C>T (n.427-43C>T) c.536C>T c.1058C>T (p.Ala353Val) c.1013C>T (p.Ala338Val) c.424+1457C>T c.791C>T (p.Ala264Val) c.*868C>T (n.*868C>T) | gnomAD v4 |
X | g.48904935G>C | CA412894597 | SLC35A2 | c.974C>G (p.Ala325Gly) c.355-43C>G (n.355-43C>G) c.427-43C>G (n.427-43C>G) c.536C>G c.1058C>G (p.Ala353Gly) c.1013C>G (p.Ala338Gly) c.424+1457C>G c.791C>G (p.Ala264Gly) c.*868C>G (n.*868C>G) | |
X | g.48904935G>T | CA412894598 | SLC35A2 | c.974C>A (p.Ala325Asp) c.355-43C>A (n.355-43C>A) c.427-43C>A (n.427-43C>A) c.536C>A c.1058C>A (p.Ala353Asp) c.1013C>A (p.Ala338Asp) c.424+1457C>A c.791C>A (p.Ala264Asp) c.*868C>A (n.*868C>A) | |
X | g.48904936C>A | CA412894599 | SLC35A2 | c.973G>T (p.Ala325Ser) c.355-44G>T (n.355-44G>T) c.427-44G>T (n.427-44G>T) c.535G>T c.1057G>T (p.Ala353Ser) c.1012G>T (p.Ala338Ser) c.424+1456G>T c.790G>T (p.Ala264Ser) c.*867G>T (n.*867G>T) | |
X | g.48904936C>G | CA412894600 | SLC35A2 | c.973G>C (p.Ala325Pro) c.355-44G>C (n.355-44G>C) c.427-44G>C (n.427-44G>C) c.535G>C c.1057G>C (p.Ala353Pro) c.1012G>C (p.Ala338Pro) c.424+1456G>C c.790G>C (p.Ala264Pro) c.*867G>C (n.*867G>C) | |
X | g.48904936C>T | CA412894601 | SLC35A2 | c.973G>A (p.Ala325Thr) c.355-44G>A (n.355-44G>A) c.427-44G>A (n.427-44G>A) c.535G>A c.1057G>A (p.Ala353Thr) c.1012G>A (p.Ala338Thr) c.424+1456G>A c.790G>A (p.Ala264Thr) c.*867G>A (n.*867G>A) | |
X | g.48904936_48904937delinsCA | CA2428428827 | SLC35A2 | c.972_973delinsTG (p.Phe324=) c.355-45_355-44delinsTG (n.355-45_355-44delinsTG) c.427-45_427-44delinsTG (n.427-45_427-44delinsTG) c.534_535delinsTG c.1056_1057delinsTG (p.Phe352=) c.1011_1012delinsTG (p.Phe337=) c.424+1455_424+1456delinsTG c.789_790delinsTG (p.Phe263=) c.*866_*867delinsTG (n.*866_*867delinsTG) | |
X | g.48904937A>C | CA412894603 | SLC35A2 | c.972T>G (p.Phe324Leu) c.355-45T>G (n.355-45T>G) c.427-45T>G (n.427-45T>G) c.534T>G c.1056T>G (p.Phe352Leu) c.1011T>G (p.Phe337Leu) c.424+1455T>G c.789T>G (p.Phe263Leu) c.*866T>G (n.*866T>G) | |
X | g.48904937A>G | CA516359857 | SLC35A2 | c.972T>C (p.Phe324=) c.355-45T>C (n.355-45T>C) c.427-45T>C (n.427-45T>C) c.534T>C c.1056T>C (p.Phe352=) c.1011T>C (p.Phe337=) c.424+1455T>C c.789T>C (p.Phe263=) c.*866T>C (n.*866T>C) | |
X | g.48904937A>T | CA412894602 | SLC35A2 | c.972T>A (p.Phe324Leu) c.355-45T>A (n.355-45T>A) c.427-45T>A (n.427-45T>A) c.534T>A c.1056T>A (p.Phe352Leu) c.1011T>A (p.Phe337Leu) c.424+1455T>A c.789T>A (p.Phe263Leu) c.*866T>A (n.*866T>A) | |
X | g.48904939del | CA163126 | SLC35A2 | c.972del (p.Phe324LeufsTer25) c.355-45del (n.355-45del) c.427-45del (n.427-45del) c.534del c.1056del (p.Phe352LeufsTer25) c.1011del (p.Phe337LeufsTer25) c.424+1455del c.789del (p.Phe263LeufsTer25) c.*866del (n.*866del) | ClinVar dbSNP |
X | g.48904938A>C | CA412894604 | SLC35A2 | c.971T>G (p.Phe324Cys) c.355-46T>G (n.355-46T>G) c.427-46T>G (n.427-46T>G) c.533T>G c.1055T>G (p.Phe352Cys) c.1010T>G (p.Phe337Cys) c.424+1454T>G c.788T>G (p.Phe263Cys) c.*865T>G (n.*865T>G) | |
X | g.48904938A>G | CA412894606 | SLC35A2 | c.971T>C (p.Phe324Ser) c.355-46T>C (n.355-46T>C) c.427-46T>C (n.427-46T>C) c.533T>C c.1055T>C (p.Phe352Ser) c.1010T>C (p.Phe337Ser) c.424+1454T>C c.788T>C (p.Phe263Ser) c.*865T>C (n.*865T>C) | |
X | g.48904938A>T | CA412894605 | SLC35A2 | c.971T>A (p.Phe324Tyr) c.355-46T>A (n.355-46T>A) c.427-46T>A (n.427-46T>A) c.533T>A c.1055T>A (p.Phe352Tyr) c.1010T>A (p.Phe337Tyr) c.424+1454T>A c.788T>A (p.Phe263Tyr) c.*865T>A (n.*865T>A) | |
X | g.48904939A>C | CA412894608 | SLC35A2 | c.970T>G (p.Phe324Val) c.355-47T>G (n.355-47T>G) c.427-47T>G (n.427-47T>G) c.532T>G c.1054T>G (p.Phe352Val) c.1009T>G (p.Phe337Val) c.424+1453T>G c.787T>G (p.Phe263Val) c.*864T>G (n.*864T>G) | |
X | g.48904939A>G | CA412894609 | SLC35A2 | c.970T>C (p.Phe324Leu) c.355-47T>C (n.355-47T>C) c.427-47T>C (n.427-47T>C) c.532T>C c.1054T>C (p.Phe352Leu) c.1009T>C (p.Phe337Leu) c.424+1453T>C c.787T>C (p.Phe263Leu) c.*864T>C (n.*864T>C) | |
X | g.48904939A>T | CA412894610 | SLC35A2 | c.970T>A (p.Phe324Ile) c.355-47T>A (n.355-47T>A) c.427-47T>A (n.427-47T>A) c.532T>A c.1054T>A (p.Phe352Ile) c.1009T>A (p.Phe337Ile) c.424+1453T>A c.787T>A (p.Phe263Ile) c.*864T>A (n.*864T>A) | |
X | g.48904940T>A | CA412894611 | SLC35A2 | c.969A>T (p.Leu323Phe) c.355-48A>T (n.355-48A>T) c.427-48A>T (n.427-48A>T) c.531A>T c.1053A>T (p.Leu351Phe) c.1008A>T (p.Leu336Phe) c.424+1452A>T c.786A>T (p.Leu262Phe) c.*863A>T (n.*863A>T) | |
X | g.48904940T>C | CA516359858 | SLC35A2 | c.969A>G (p.Leu323=) c.355-48A>G (n.355-48A>G) c.427-48A>G (n.427-48A>G) c.531A>G c.1053A>G (p.Leu351=) c.1008A>G (p.Leu336=) c.424+1452A>G c.786A>G (p.Leu262=) c.*863A>G (n.*863A>G) | |
X | g.48904940T>G | CA412894612 | SLC35A2 | c.969A>C (p.Leu323Phe) c.355-48A>C (n.355-48A>C) c.427-48A>C (n.427-48A>C) c.531A>C c.1053A>C (p.Leu351Phe) c.1008A>C (p.Leu336Phe) c.424+1452A>C c.786A>C (p.Leu262Phe) c.*863A>C (n.*863A>C) | |
X | g.48904941A>C | CA412894613 | SLC35A2 | c.968T>G (p.Leu323Ter) c.355-49T>G (n.355-49T>G) c.427-49T>G (n.427-49T>G) c.530T>G c.1052T>G (p.Leu351Ter) c.1007T>G (p.Leu336Ter) c.424+1451T>G c.785T>G (p.Leu262Ter) c.*862T>G (n.*862T>G) | |
X | g.48904941A>G | CA412894614 | SLC35A2 | c.968T>C (p.Leu323Ser) c.355-49T>C (n.355-49T>C) c.427-49T>C (n.427-49T>C) c.530T>C c.1052T>C (p.Leu351Ser) c.1007T>C (p.Leu336Ser) c.424+1451T>C c.785T>C (p.Leu262Ser) c.*862T>C (n.*862T>C) | |
X | g.48904941A>T | CA412894615 | SLC35A2 | c.968T>A (p.Leu323Ter) c.355-49T>A (n.355-49T>A) c.427-49T>A (n.427-49T>A) c.530T>A c.1052T>A (p.Leu351Ter) c.1007T>A (p.Leu336Ter) c.424+1451T>A c.785T>A (p.Leu262Ter) c.*862T>A (n.*862T>A) | |
X | g.48904942A>C | CA412894616 | SLC35A2 | c.967T>G (p.Leu323Val) c.355-50T>G (n.355-50T>G) c.427-50T>G (n.427-50T>G) c.529T>G c.1051T>G (p.Leu351Val) c.1006T>G (p.Leu336Val) c.424+1450T>G c.784T>G (p.Leu262Val) c.*861T>G (n.*861T>G) | |
X | g.48904942A>G | CA516359859 | SLC35A2 | c.967T>C (p.Leu323=) c.355-50T>C (n.355-50T>C) c.427-50T>C (n.427-50T>C) c.529T>C c.1051T>C (p.Leu351=) c.1006T>C (p.Leu336=) c.424+1450T>C c.784T>C (p.Leu262=) c.*861T>C (n.*861T>C) | gnomAD v4 |
X | g.48904942A>T | CA412894617 | SLC35A2 | c.967T>A (p.Leu323Ile) c.355-50T>A (n.355-50T>A) c.427-50T>A (n.427-50T>A) c.529T>A c.1051T>A (p.Leu351Ile) c.1006T>A (p.Leu336Ile) c.424+1450T>A c.784T>A (p.Leu262Ile) c.*861T>A (n.*861T>A) | |
X | g.48904943T>A | CA516359860 | SLC35A2 | c.966A>T (p.Pro322=) c.355-51A>T (n.355-51A>T) c.427-51A>T (n.427-51A>T) c.528A>T c.1050A>T (p.Pro350=) c.1005A>T (p.Pro335=) c.424+1449A>T c.783A>T (p.Pro261=) c.*860A>T (n.*860A>T) | |
X | g.48904943T>C | CA10406079 | SLC35A2 | c.966A>G (p.Pro322=) c.355-51A>G (n.355-51A>G) c.427-51A>G (n.427-51A>G) c.528A>G c.1050A>G (p.Pro350=) c.1005A>G (p.Pro335=) c.424+1449A>G c.783A>G (p.Pro261=) c.*860A>G (n.*860A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904943T>G | CA516359861 | SLC35A2 | c.966A>C (p.Pro322=) c.355-51A>C (n.355-51A>C) c.427-51A>C (n.427-51A>C) c.528A>C c.1050A>C (p.Pro350=) c.1005A>C (p.Pro335=) c.424+1449A>C c.783A>C (p.Pro261=) c.*860A>C (n.*860A>C) | |
X | g.48904943T= | CA2428428828 | SLC35A2 | c.966A= (p.Pro322=) c.355-51A= (n.355-51A=) c.427-51A= (n.427-51A=) c.528A= c.1050A= (p.Pro350=) c.1005A= (p.Pro335=) c.424+1449A= c.783A= (p.Pro261=) c.*860A= (n.*860A=) | |
X | g.48904944G>A | CA412894620 | SLC35A2 | c.965C>T (p.Pro322Leu) c.355-52C>T (n.355-52C>T) c.427-52C>T (n.427-52C>T) c.527C>T c.1049C>T (p.Pro350Leu) c.1004C>T (p.Pro335Leu) c.424+1448C>T c.782C>T (p.Pro261Leu) c.*859C>T (n.*859C>T) | |
X | g.48904944G>C | CA412894618 | SLC35A2 | c.965C>G (p.Pro322Arg) c.355-52C>G (n.355-52C>G) c.427-52C>G (n.427-52C>G) c.527C>G c.1049C>G (p.Pro350Arg) c.1004C>G (p.Pro335Arg) c.424+1448C>G c.782C>G (p.Pro261Arg) c.*859C>G (n.*859C>G) | |
X | g.48904944G>T | CA412894619 | SLC35A2 | c.965C>A (p.Pro322Gln) c.355-52C>A (n.355-52C>A) c.427-52C>A (n.427-52C>A) c.527C>A c.1049C>A (p.Pro350Gln) c.1004C>A (p.Pro335Gln) c.424+1448C>A c.782C>A (p.Pro261Gln) c.*859C>A (n.*859C>A) | |
X | g.48904945G>A | CA412894622 | SLC35A2 | c.964C>T (p.Pro322Ser) c.355-53C>T (n.355-53C>T) c.427-53C>T (n.427-53C>T) c.526C>T c.1048C>T (p.Pro350Ser) c.1003C>T (p.Pro335Ser) c.424+1447C>T c.781C>T (p.Pro261Ser) c.*858C>T (n.*858C>T) | |
X | g.48904945G>C | CA412894623 | SLC35A2 | c.964C>G (p.Pro322Ala) c.355-53C>G (n.355-53C>G) c.427-53C>G (n.427-53C>G) c.526C>G c.1048C>G (p.Pro350Ala) c.1003C>G (p.Pro335Ala) c.424+1447C>G c.781C>G (p.Pro261Ala) c.*858C>G (n.*858C>G) | |
X | g.48904945G>T | CA412894625 | SLC35A2 | c.964C>A (p.Pro322Thr) c.355-53C>A (n.355-53C>A) c.427-53C>A (n.427-53C>A) c.526C>A c.1048C>A (p.Pro350Thr) c.1003C>A (p.Pro335Thr) c.424+1447C>A c.781C>A (p.Pro261Thr) c.*858C>A (n.*858C>A) | |
X | g.48904946G>A | CA516359862 | SLC35A2 | c.963C>T (p.Asp321=) c.355-54C>T (n.355-54C>T) c.427-54C>T (n.427-54C>T) c.525C>T c.1047C>T (p.Asp349=) c.1002C>T (p.Asp334=) c.424+1446C>T c.780C>T (p.Asp260=) c.*857C>T (n.*857C>T) | ClinVar dbSNP |
X | g.48904946G>C | CA412894627 | SLC35A2 | c.963C>G (p.Asp321Glu) c.355-54C>G (n.355-54C>G) c.427-54C>G (n.427-54C>G) c.525C>G c.1047C>G (p.Asp349Glu) c.1002C>G (p.Asp334Glu) c.424+1446C>G c.780C>G (p.Asp260Glu) c.*857C>G (n.*857C>G) | |
X | g.48904946G= | CA2428428829 | SLC35A2 | c.963C= (p.Asp321=) c.355-54C= (n.355-54C=) c.427-54C= (n.427-54C=) c.525C= c.1047C= (p.Asp349=) c.1002C= (p.Asp334=) c.424+1446C= c.780C= (p.Asp260=) c.*857C= (n.*857C=) | |
X | g.48904946G>T | CA412894629 | SLC35A2 | c.963C>A (p.Asp321Glu) c.355-54C>A (n.355-54C>A) c.427-54C>A (n.427-54C>A) c.525C>A c.1047C>A (p.Asp349Glu) c.1002C>A (p.Asp334Glu) c.424+1446C>A c.780C>A (p.Asp260Glu) c.*857C>A (n.*857C>A) | |
X | g.48904947T>A | CA412894630 | SLC35A2 | c.962A>T (p.Asp321Val) c.355-55A>T (n.355-55A>T) c.427-55A>T (n.427-55A>T) c.524A>T c.1046A>T (p.Asp349Val) c.1001A>T (p.Asp334Val) c.424+1445A>T c.779A>T (p.Asp260Val) c.*856A>T (n.*856A>T) | |
X | g.48904947T>C | CA412894632 | SLC35A2 | c.962A>G (p.Asp321Gly) c.355-55A>G (n.355-55A>G) c.427-55A>G (n.427-55A>G) c.524A>G c.1046A>G (p.Asp349Gly) c.1001A>G (p.Asp334Gly) c.424+1445A>G c.779A>G (p.Asp260Gly) c.*856A>G (n.*856A>G) | ClinVar |
X | g.48904947T>G | CA412894635 | SLC35A2 | c.962A>C (p.Asp321Ala) c.355-55A>C (n.355-55A>C) c.427-55A>C (n.427-55A>C) c.524A>C c.1046A>C (p.Asp349Ala) c.1001A>C (p.Asp334Ala) c.424+1445A>C c.779A>C (p.Asp260Ala) c.*856A>C (n.*856A>C) | |
X | g.48904948C>A | CA412894637 | SLC35A2 | c.961G>T (p.Asp321Tyr) c.355-56G>T (n.355-56G>T) c.427-56G>T (n.427-56G>T) c.523G>T c.1045G>T (p.Asp349Tyr) c.1000G>T (p.Asp334Tyr) c.424+1444G>T c.778G>T (p.Asp260Tyr) c.*855G>T (n.*855G>T) | |
X | g.48904948C>G | CA412894639 | SLC35A2 | c.961G>C (p.Asp321His) c.355-56G>C (n.355-56G>C) c.427-56G>C (n.427-56G>C) c.523G>C c.1045G>C (p.Asp349His) c.1000G>C (p.Asp334His) c.424+1444G>C c.778G>C (p.Asp260His) c.*855G>C (n.*855G>C) | |
X | g.48904948C>T | CA412894641 | SLC35A2 | c.961G>A (p.Asp321Asn) c.355-56G>A (n.355-56G>A) c.427-56G>A (n.427-56G>A) c.523G>A c.1045G>A (p.Asp349Asn) c.1000G>A (p.Asp334Asn) c.424+1444G>A c.778G>A (p.Asp260Asn) c.*855G>A (n.*855G>A) | |
X | g.48904949C>A | CA516359863 | SLC35A2 | c.960G>T (p.Val320=) c.355-57G>T (n.355-57G>T) c.427-57G>T (n.427-57G>T) c.522G>T c.1044G>T (p.Val348=) c.999G>T (p.Val333=) c.424+1443G>T c.777G>T (p.Val259=) c.*854G>T (n.*854G>T) | |
X | g.48904949C>G | CA516359864 | SLC35A2 | c.960G>C (p.Val320=) c.355-57G>C (n.355-57G>C) c.427-57G>C (n.427-57G>C) c.522G>C c.1044G>C (p.Val348=) c.999G>C (p.Val333=) c.424+1443G>C c.777G>C (p.Val259=) c.*854G>C (n.*854G>C) | |
X | g.48904949C>T | CA516359865 | SLC35A2 | c.960G>A (p.Val320=) c.355-57G>A (n.355-57G>A) c.427-57G>A (n.427-57G>A) c.522G>A c.1044G>A (p.Val348=) c.999G>A (p.Val333=) c.424+1443G>A c.777G>A (p.Val259=) c.*854G>A (n.*854G>A) | |
X | g.48904950A>C | CA412894645 | SLC35A2 | c.959T>G (p.Val320Gly) c.355-58T>G (n.355-58T>G) c.427-58T>G (n.427-58T>G) c.521T>G c.1043T>G (p.Val348Gly) c.998T>G (p.Val333Gly) c.424+1442T>G c.776T>G (p.Val259Gly) c.*853T>G (n.*853T>G) | |
X | g.48904950A>G | CA412894647 | SLC35A2 | c.959T>C (p.Val320Ala) c.355-58T>C (n.355-58T>C) c.427-58T>C (n.427-58T>C) c.521T>C c.1043T>C (p.Val348Ala) c.998T>C (p.Val333Ala) c.424+1442T>C c.776T>C (p.Val259Ala) c.*853T>C (n.*853T>C) | |
X | g.48904950A>T | CA412894643 | SLC35A2 | c.959T>A (p.Val320Glu) c.355-58T>A (n.355-58T>A) c.427-58T>A (n.427-58T>A) c.521T>A c.1043T>A (p.Val348Glu) c.998T>A (p.Val333Glu) c.424+1442T>A c.776T>A (p.Val259Glu) c.*853T>A (n.*853T>A) | |
X | g.48904951C>A | CA412894650 | SLC35A2 | c.958G>T (p.Val320Leu) c.355-59G>T (n.355-59G>T) c.427-59G>T (n.427-59G>T) c.520G>T c.1042G>T (p.Val348Leu) c.997G>T (p.Val333Leu) c.424+1441G>T c.775G>T (p.Val259Leu) c.*852G>T (n.*852G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904951C= | CA2428428830 | SLC35A2 | c.958G= (p.Val320=) c.355-59G= (n.355-59G=) c.427-59G= (n.427-59G=) c.520G= c.1042G= (p.Val348=) c.997G= (p.Val333=) c.424+1441G= c.775G= (p.Val259=) c.*852G= (n.*852G=) | |
X | g.48904951C>G | CA412894651 | SLC35A2 | c.958G>C (p.Val320Leu) c.355-59G>C (n.355-59G>C) c.427-59G>C (n.427-59G>C) c.520G>C c.1042G>C (p.Val348Leu) c.997G>C (p.Val333Leu) c.424+1441G>C c.775G>C (p.Val259Leu) c.*852G>C (n.*852G>C) | gnomAD v4 |
X | g.48904951C>T | CA10406080 | SLC35A2 | c.958G>A (p.Val320Met) c.355-59G>A (n.355-59G>A) c.427-59G>A (n.427-59G>A) c.520G>A c.1042G>A (p.Val348Met) c.997G>A (p.Val333Met) c.424+1441G>A c.775G>A (p.Val259Met) c.*852G>A (n.*852G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.48904952G>A | CA10406081 | SLC35A2 | c.957C>T (p.His319=) c.355-60C>T (n.355-60C>T) c.427-60C>T (n.427-60C>T) c.519C>T c.1041C>T (p.His347=) c.996C>T (p.His332=) c.424+1440C>T c.774C>T (p.His258=) c.*851C>T (n.*851C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.48904952G>C | CA412894655 | SLC35A2 | c.957C>G (p.His319Gln) c.355-60C>G (n.355-60C>G) c.427-60C>G (n.427-60C>G) c.519C>G c.1041C>G (p.His347Gln) c.996C>G (p.His332Gln) c.424+1440C>G c.774C>G (p.His258Gln) c.*851C>G (n.*851C>G) | |
X | g.48904952G= | CA2428428831 | SLC35A2 | c.957C= (p.His319=) c.355-60C= (n.355-60C=) c.427-60C= (n.427-60C=) c.519C= c.1041C= (p.His347=) c.996C= (p.His332=) c.424+1440C= c.774C= (p.His258=) c.*851C= (n.*851C=) | |
X | g.48904952G>T | CA412894657 | SLC35A2 | c.957C>A (p.His319Gln) c.355-60C>A (n.355-60C>A) c.427-60C>A (n.427-60C>A) c.519C>A c.1041C>A (p.His347Gln) c.996C>A (p.His332Gln) c.424+1440C>A c.774C>A (p.His258Gln) c.*851C>A (n.*851C>A) | |
X | g.48904953T>A | CA412894662 | SLC35A2 | c.956A>T (p.His319Leu) c.355-61A>T (n.355-61A>T) c.427-61A>T (n.427-61A>T) c.518A>T c.1040A>T (p.His347Leu) c.995A>T (p.His332Leu) c.424+1439A>T c.773A>T (p.His258Leu) c.*850A>T (n.*850A>T) | |
X | g.48904953T>C | CA412894659 | SLC35A2 | c.956A>G (p.His319Arg) c.355-61A>G (n.355-61A>G) c.427-61A>G (n.427-61A>G) c.518A>G c.1040A>G (p.His347Arg) c.995A>G (p.His332Arg) c.424+1439A>G c.773A>G (p.His258Arg) c.*850A>G (n.*850A>G) | |
X | g.48904953T>G | CA412894660 | SLC35A2 | c.956A>C (p.His319Pro) c.355-61A>C (n.355-61A>C) c.427-61A>C (n.427-61A>C) c.518A>C c.1040A>C (p.His347Pro) c.995A>C (p.His332Pro) c.424+1439A>C c.773A>C (p.His258Pro) c.*850A>C (n.*850A>C) | |
X | g.48904954G>A | CA412894664 | SLC35A2 | c.955C>T (p.His319Tyr) c.355-62C>T (n.355-62C>T) c.427-62C>T (n.427-62C>T) c.517C>T c.1039C>T (p.His347Tyr) c.994C>T (p.His332Tyr) c.424+1438C>T c.772C>T (p.His258Tyr) c.*849C>T (n.*849C>T) | ClinVar dbSNP gnomAD v4 |
X | g.48904954G>C | CA412894666 | SLC35A2 | c.955C>G (p.His319Asp) c.355-62C>G (n.355-62C>G) c.427-62C>G (n.427-62C>G) c.517C>G c.1039C>G (p.His347Asp) c.994C>G (p.His332Asp) c.424+1438C>G c.772C>G (p.His258Asp) c.*849C>G (n.*849C>G) | |
X | g.48904954G= | CA2428428832 | SLC35A2 | c.955C= (p.His319=) c.355-62C= (n.355-62C=) c.427-62C= (n.427-62C=) c.517C= c.1039C= (p.His347=) c.994C= (p.His332=) c.424+1438C= c.772C= (p.His258=) c.*849C= (n.*849C=) | |
X | g.48904954G>T | CA412894668 | SLC35A2 | c.955C>A (p.His319Asn) c.355-62C>A (n.355-62C>A) c.427-62C>A (n.427-62C>A) c.517C>A c.1039C>A (p.His347Asn) c.994C>A (p.His332Asn) c.424+1438C>A c.772C>A (p.His258Asn) c.*849C>A (n.*849C>A) | |
X | g.48904955G>A | CA516359866 | SLC35A2 | c.954C>T (p.Phe318=) c.355-63C>T (n.355-63C>T) c.427-63C>T (n.427-63C>T) c.516C>T c.1038C>T (p.Phe346=) c.993C>T (p.Phe331=) c.424+1437C>T c.771C>T (p.Phe257=) c.*848C>T (n.*848C>T) | |
X | g.48904955G>C | CA412894671 | SLC35A2 | c.954C>G (p.Phe318Leu) c.355-63C>G (n.355-63C>G) c.427-63C>G (n.427-63C>G) c.516C>G c.1038C>G (p.Phe346Leu) c.993C>G (p.Phe331Leu) c.424+1437C>G c.771C>G (p.Phe257Leu) c.*848C>G (n.*848C>G) | |
X | g.48904955G= | CA2428428833 | SLC35A2 | c.954C= (p.Phe318=) c.355-63C= (n.355-63C=) c.427-63C= (n.427-63C=) c.516C= c.1038C= (p.Phe346=) c.993C= (p.Phe331=) c.424+1437C= c.771C= (p.Phe257=) c.*848C= (n.*848C=) | |
X | g.48904955G>T | CA412894673 | SLC35A2 | c.954C>A (p.Phe318Leu) c.355-63C>A (n.355-63C>A) c.427-63C>A (n.427-63C>A) c.516C>A c.1038C>A (p.Phe346Leu) c.993C>A (p.Phe331Leu) c.424+1437C>A c.771C>A (p.Phe257Leu) c.*848C>A (n.*848C>A) | |
X | g.48904956A>C | CA412894676 | SLC35A2 | c.953T>G (p.Phe318Cys) c.355-64T>G (n.355-64T>G) c.427-64T>G (n.427-64T>G) c.515T>G c.1037T>G (p.Phe346Cys) c.992T>G (p.Phe331Cys) c.424+1436T>G c.770T>G (p.Phe257Cys) c.*847T>G (n.*847T>G) | |
X | g.48904956A>G | CA412894679 | SLC35A2 | c.953T>C (p.Phe318Ser) c.355-64T>C (n.355-64T>C) c.427-64T>C (n.427-64T>C) c.515T>C c.1037T>C (p.Phe346Ser) c.992T>C (p.Phe331Ser) c.424+1436T>C c.770T>C (p.Phe257Ser) c.*847T>C (n.*847T>C) | |
X | g.48904956A>T | CA412894677 | SLC35A2 | c.953T>A (p.Phe318Tyr) c.355-64T>A (n.355-64T>A) c.427-64T>A (n.427-64T>A) c.515T>A c.1037T>A (p.Phe346Tyr) c.992T>A (p.Phe331Tyr) c.424+1436T>A c.770T>A (p.Phe257Tyr) c.*847T>A (n.*847T>A) | |
X | g.48904957dup | CA329098668 | SLC35A2 | c.953dup (p.His319ProfsTer?) c.355-64dup (n.355-64dup) c.427-64dup (n.427-64dup) c.515dup c.1037dup (p.His347ProfsTer?) c.992dup (p.His332ProfsTer?) c.424+1436dup c.770dup (p.His258ProfsTer?) c.*847dup (n.*847dup) | dbSNP |
X | g.48904957A>C | CA412894681 | SLC35A2 | c.952T>G (p.Phe318Val) c.355-65T>G (n.355-65T>G) c.427-65T>G (n.427-65T>G) c.514T>G c.1036T>G (p.Phe346Val) c.991T>G (p.Phe331Val) c.424+1435T>G c.769T>G (p.Phe257Val) c.*846T>G (n.*846T>G) | |
X | g.48904957A>G | CA412894683 | SLC35A2 | c.952T>C (p.Phe318Leu) c.355-65T>C (n.355-65T>C) c.427-65T>C (n.427-65T>C) c.514T>C c.1036T>C (p.Phe346Leu) c.991T>C (p.Phe331Leu) c.424+1435T>C c.769T>C (p.Phe257Leu) c.*846T>C (n.*846T>C) | |
X | g.48904957A>T | CA412894684 | SLC35A2 | c.952T>A (p.Phe318Ile) c.355-65T>A (n.355-65T>A) c.427-65T>A (n.427-65T>A) c.514T>A c.1036T>A (p.Phe346Ile) c.991T>A (p.Phe331Ile) c.424+1435T>A c.769T>A (p.Phe257Ile) c.*846T>A (n.*846T>A) | |
X | g.48904958G>A | CA516359867 | SLC35A2 | c.951C>T (p.Gly317=) c.355-66C>T (n.355-66C>T) c.427-66C>T (n.427-66C>T) c.513C>T c.1035C>T (p.Gly345=) c.990C>T (p.Gly330=) c.424+1434C>T c.768C>T (p.Gly256=) c.*845C>T (n.*845C>T) | |
X | g.48904958G>C | CA516359868 | SLC35A2 | c.951C>G (p.Gly317=) c.355-66C>G (n.355-66C>G) c.427-66C>G (n.427-66C>G) c.513C>G c.1035C>G (p.Gly345=) c.990C>G (p.Gly330=) c.424+1434C>G c.768C>G (p.Gly256=) c.*845C>G (n.*845C>G) | |
X | g.48904958G>T | CA516359869 | SLC35A2 | c.951C>A (p.Gly317=) c.355-66C>A (n.355-66C>A) c.427-66C>A (n.427-66C>A) c.513C>A c.1035C>A (p.Gly345=) c.990C>A (p.Gly330=) c.424+1434C>A c.768C>A (p.Gly256=) c.*845C>A (n.*845C>A) | |
X | g.48904959C>A | CA412894688 | SLC35A2 | c.950G>T (p.Gly317Val) c.355-67G>T (n.355-67G>T) c.427-67G>T (n.427-67G>T) c.512G>T c.1034G>T (p.Gly345Val) c.989G>T (p.Gly330Val) c.424+1433G>T c.767G>T (p.Gly256Val) c.*844G>T (n.*844G>T) | |
X | g.48904959C>G | CA412894689 | SLC35A2 | c.950G>C (p.Gly317Ala) c.355-67G>C (n.355-67G>C) c.427-67G>C (n.427-67G>C) c.512G>C c.1034G>C (p.Gly345Ala) c.989G>C (p.Gly330Ala) c.424+1433G>C c.767G>C (p.Gly256Ala) c.*844G>C (n.*844G>C) | |
X | g.48904959C>T | CA412894690 | SLC35A2 | c.950G>A (p.Gly317Asp) c.355-67G>A (n.355-67G>A) c.427-67G>A (n.427-67G>A) c.512G>A c.1034G>A (p.Gly345Asp) c.989G>A (p.Gly330Asp) c.424+1433G>A c.767G>A (p.Gly256Asp) c.*844G>A (n.*844G>A) | |
X | g.48904960del | CA2695233836 | SLC35A2 | c.950del (p.Gly317AlafsTer?) c.355-67del (n.355-67del) c.427-67del (n.427-67del) c.512del c.1034del (p.Gly345AlafsTer?) c.989del (p.Gly330AlafsTer?) c.424+1433del c.767del (p.Gly256AlafsTer?) c.*844del (n.*844del) | |
X | g.48904960C>A | CA412894692 | SLC35A2 | c.949G>T (p.Gly317Cys) c.355-68G>T (n.355-68G>T) c.427-68G>T (n.427-68G>T) c.511G>T c.1033G>T (p.Gly345Cys) c.988G>T (p.Gly330Cys) c.424+1432G>T c.766G>T (p.Gly256Cys) c.*843G>T (n.*843G>T) | |
X | g.48904960C>G | CA412894694 | SLC35A2 | c.949G>C (p.Gly317Arg) c.355-68G>C (n.355-68G>C) c.427-68G>C (n.427-68G>C) c.511G>C c.1033G>C (p.Gly345Arg) c.988G>C (p.Gly330Arg) c.424+1432G>C c.766G>C (p.Gly256Arg) c.*843G>C (n.*843G>C) | |
X | g.48904960C>T | CA412894696 | SLC35A2 | c.949G>A (p.Gly317Ser) c.355-68G>A (n.355-68G>A) c.427-68G>A (n.427-68G>A) c.511G>A c.1033G>A (p.Gly345Ser) c.988G>A (p.Gly330Ser) c.424+1432G>A c.766G>A (p.Gly256Ser) c.*843G>A (n.*843G>A) | |
X | g.48904960_48904962delinsCAA | CA2428428834 | SLC35A2 | c.947_949delinsTTG (p.Phe316=) c.355-70_355-68delinsTTG (n.355-70_355-68delinsTTG) c.427-70_427-68delinsTTG (n.427-70_427-68delinsTTG) c.509_511delinsTTG c.1031_1033delinsTTG (p.Phe344=) c.986_988delinsTTG (p.Phe329=) c.424+1430_424+1432delinsTTG c.764_766delinsTTG (p.Phe255=) c.*841_*843delinsTTG (n.*841_*843delinsTTG) | |
X | g.48904961A>C | CA412894697 | SLC35A2 | c.948T>G (p.Phe316Leu) c.355-69T>G (n.355-69T>G) c.427-69T>G (n.427-69T>G) c.510T>G c.1032T>G (p.Phe344Leu) c.987T>G (p.Phe329Leu) c.424+1431T>G c.765T>G (p.Phe255Leu) c.*842T>G (n.*842T>G) | |
X | g.48904961A>G | CA516359870 | SLC35A2 | c.948T>C (p.Phe316=) c.355-69T>C (n.355-69T>C) c.427-69T>C (n.427-69T>C) c.510T>C c.1032T>C (p.Phe344=) c.987T>C (p.Phe329=) c.424+1431T>C c.765T>C (p.Phe255=) c.*842T>C (n.*842T>C) | |
X | g.48904961A>T | CA412894699 | SLC35A2 | c.948T>A (p.Phe316Leu) c.355-69T>A (n.355-69T>A) c.427-69T>A (n.427-69T>A) c.510T>A c.1032T>A (p.Phe344Leu) c.987T>A (p.Phe329Leu) c.424+1431T>A c.765T>A (p.Phe255Leu) c.*842T>A (n.*842T>A) | |
X | g.48904962_48904963del | CA916083952 | SLC35A2 | c.947_948del (p.Phe316TrpfsTer?) c.355-70_355-69del (n.355-70_355-69del) c.427-70_427-69del (n.427-70_427-69del) c.509_510del c.1031_1032del (p.Phe344TrpfsTer?) c.986_987del (p.Phe329TrpfsTer?) c.424+1430_424+1431del c.764_765del (p.Phe255TrpfsTer?) c.*841_*842del (n.*841_*842del) | ClinVar dbSNP |
X | g.48904962A>C | CA412894706 | SLC35A2 | c.947T>G (p.Phe316Cys) c.355-70T>G (n.355-70T>G) c.427-70T>G (n.427-70T>G) c.509T>G c.1031T>G (p.Phe344Cys) c.986T>G (p.Phe329Cys) c.424+1430T>G c.764T>G (p.Phe255Cys) c.*841T>G (n.*841T>G) | |
X | g.48904962A>G | CA412894704 | SLC35A2 | c.947T>C (p.Phe316Ser) c.355-70T>C (n.355-70T>C) c.427-70T>C (n.427-70T>C) c.509T>C c.1031T>C (p.Phe344Ser) c.986T>C (p.Phe329Ser) c.424+1430T>C c.764T>C (p.Phe255Ser) c.*841T>C (n.*841T>C) | |
X | g.48904962A>T | CA412894702 | SLC35A2 | c.947T>A (p.Phe316Tyr) c.355-70T>A (n.355-70T>A) c.427-70T>A (n.427-70T>A) c.509T>A c.1031T>A (p.Phe344Tyr) c.986T>A (p.Phe329Tyr) c.424+1430T>A c.764T>A (p.Phe255Tyr) c.*841T>A (n.*841T>A) | |
X | g.48904963A>C | CA412894709 | SLC35A2 | c.946T>G (p.Phe316Val) c.355-71T>G (n.355-71T>G) c.427-71T>G (n.427-71T>G) c.508T>G c.1030T>G (p.Phe344Val) c.985T>G (p.Phe329Val) c.424+1429T>G c.763T>G (p.Phe255Val) c.*840T>G (n.*840T>G) | |
X | g.48904963A>G | CA412894713 | SLC35A2 | c.946T>C (p.Phe316Leu) c.355-71T>C (n.355-71T>C) c.427-71T>C (n.427-71T>C) c.508T>C c.1030T>C (p.Phe344Leu) c.985T>C (p.Phe329Leu) c.424+1429T>C c.763T>C (p.Phe255Leu) c.*840T>C (n.*840T>C) | |
X | g.48904963A>T | CA412894710 | SLC35A2 | c.946T>A (p.Phe316Ile) c.355-71T>A (n.355-71T>A) c.427-71T>A (n.427-71T>A) c.508T>A c.1030T>A (p.Phe344Ile) c.985T>A (p.Phe329Ile) c.424+1429T>A c.763T>A (p.Phe255Ile) c.*840T>A (n.*840T>A) | |
X | g.48904964G>A | CA10406082 | SLC35A2 | c.945C>T (p.Leu315=) c.355-72C>T (n.355-72C>T) c.427-72C>T (n.427-72C>T) c.507C>T c.1029C>T (p.Leu343=) c.984C>T (p.Leu328=) c.424+1428C>T c.762C>T (p.Leu254=) c.*839C>T (n.*839C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904964G>C | CA516359871 | SLC35A2 | c.945C>G (p.Leu315=) c.355-72C>G (n.355-72C>G) c.427-72C>G (n.427-72C>G) c.507C>G c.1029C>G (p.Leu343=) c.984C>G (p.Leu328=) c.424+1428C>G c.762C>G (p.Leu254=) c.*839C>G (n.*839C>G) | |
X | g.48904964G= | CA2428428835 | SLC35A2 | c.945C= (p.Leu315=) c.355-72C= (n.355-72C=) c.427-72C= (n.427-72C=) c.507C= c.1029C= (p.Leu343=) c.984C= (p.Leu328=) c.424+1428C= c.762C= (p.Leu254=) c.*839C= (n.*839C=) | |
X | g.48904964G>T | CA516359872 | SLC35A2 | c.945C>A (p.Leu315=) c.355-72C>A (n.355-72C>A) c.427-72C>A (n.427-72C>A) c.507C>A c.1029C>A (p.Leu343=) c.984C>A (p.Leu328=) c.424+1428C>A c.762C>A (p.Leu254=) c.*839C>A (n.*839C>A) | |
X | g.48904965A= | CA2428428836 | SLC35A2 | c.944T= (p.Leu315=) c.355-73T= (n.355-73T=) c.427-73T= (n.427-73T=) c.506T= c.1028T= (p.Leu343=) c.983T= (p.Leu328=) c.424+1427T= c.761T= (p.Leu254=) c.*838T= (n.*838T=) | |
X | g.48904965A>C | CA412894720 | SLC35A2 | c.944T>G (p.Leu315Arg) c.355-73T>G (n.355-73T>G) c.427-73T>G (n.427-73T>G) c.506T>G c.1028T>G (p.Leu343Arg) c.983T>G (p.Leu328Arg) c.424+1427T>G c.761T>G (p.Leu254Arg) c.*838T>G (n.*838T>G) | |
X | g.48904965A>G | CA412894717 | SLC35A2 | c.944T>C (p.Leu315Pro) c.355-73T>C (n.355-73T>C) c.427-73T>C (n.427-73T>C) c.506T>C c.1028T>C (p.Leu343Pro) c.983T>C (p.Leu328Pro) c.424+1427T>C c.761T>C (p.Leu254Pro) c.*838T>C (n.*838T>C) | ClinVar dbSNP |
X | g.48904965A>T | CA412894719 | SLC35A2 | c.944T>A (p.Leu315His) c.355-73T>A (n.355-73T>A) c.427-73T>A (n.427-73T>A) c.506T>A c.1028T>A (p.Leu343His) c.983T>A (p.Leu328His) c.424+1427T>A c.761T>A (p.Leu254His) c.*838T>A (n.*838T>A) | |
X | g.48904966G>A | CA412894723 | SLC35A2 | c.943C>T (p.Leu315Phe) c.355-74C>T (n.355-74C>T) c.427-74C>T (n.427-74C>T) c.505C>T c.1027C>T (p.Leu343Phe) c.982C>T (p.Leu328Phe) c.424+1426C>T c.760C>T (p.Leu254Phe) c.*837C>T (n.*837C>T) | |
X | g.48904966G>C | CA412894724 | SLC35A2 | c.943C>G (p.Leu315Val) c.355-74C>G (n.355-74C>G) c.427-74C>G (n.427-74C>G) c.505C>G c.1027C>G (p.Leu343Val) c.982C>G (p.Leu328Val) c.424+1426C>G c.760C>G (p.Leu254Val) c.*837C>G (n.*837C>G) | |
X | g.48904966G>T | CA412894726 | SLC35A2 | c.943C>A (p.Leu315Ile) c.355-74C>A (n.355-74C>A) c.427-74C>A (n.427-74C>A) c.505C>A c.1027C>A (p.Leu343Ile) c.982C>A (p.Leu328Ile) c.424+1426C>A c.760C>A (p.Leu254Ile) c.*837C>A (n.*837C>A) | COSMIC |
X | g.48904967G>A | CA10406083 | SLC35A2 | c.942C>T (p.Arg314=) c.355-75C>T (n.355-75C>T) c.427-75C>T (n.427-75C>T) c.504C>T c.1026C>T (p.Arg342=) c.981C>T (p.Arg327=) c.424+1425C>T c.759C>T (p.Arg253=) c.*836C>T (n.*836C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904967G>C | CA516359874 | SLC35A2 | c.942C>G (p.Arg314=) c.355-75C>G (n.355-75C>G) c.427-75C>G (n.427-75C>G) c.504C>G c.1026C>G (p.Arg342=) c.981C>G (p.Arg327=) c.424+1425C>G c.759C>G (p.Arg253=) c.*836C>G (n.*836C>G) | |
X | g.48904967G= | CA2428428837 | SLC35A2 | c.942C= (p.Arg314=) c.355-75C= (n.355-75C=) c.427-75C= (n.427-75C=) c.504C= c.1026C= (p.Arg342=) c.981C= (p.Arg327=) c.424+1425C= c.759C= (p.Arg253=) c.*836C= (n.*836C=) | |
X | g.48904967G>T | CA516359873 | SLC35A2 | c.942C>A (p.Arg314=) c.355-75C>A (n.355-75C>A) c.427-75C>A (n.427-75C>A) c.504C>A c.1026C>A (p.Arg342=) c.981C>A (p.Arg327=) c.424+1425C>A c.759C>A (p.Arg253=) c.*836C>A (n.*836C>A) | |
X | g.48904968C>A | CA412894730 | SLC35A2 | c.941G>T (p.Arg314Leu) c.355-76G>T (n.355-76G>T) c.427-76G>T (n.427-76G>T) c.503G>T c.1025G>T (p.Arg342Leu) c.980G>T (p.Arg327Leu) c.424+1424G>T c.758G>T (p.Arg253Leu) c.*835G>T (n.*835G>T) | dbSNP |
X | g.48904968C= | CA2428428838 | SLC35A2 | c.941G= (p.Arg314=) c.355-76G= (n.355-76G=) c.427-76G= (n.427-76G=) c.503G= c.1025G= (p.Arg342=) c.980G= (p.Arg327=) c.424+1424G= c.758G= (p.Arg253=) c.*835G= (n.*835G=) | |
X | g.48904968C>G | CA412894732 | SLC35A2 | c.941G>C (p.Arg314Pro) c.355-76G>C (n.355-76G>C) c.427-76G>C (n.427-76G>C) c.503G>C c.1025G>C (p.Arg342Pro) c.980G>C (p.Arg327Pro) c.424+1424G>C c.758G>C (p.Arg253Pro) c.*835G>C (n.*835G>C) | |
X | g.48904968C>T | CA329098725 | SLC35A2 | c.941G>A (p.Arg314His) c.355-76G>A (n.355-76G>A) c.427-76G>A (n.427-76G>A) c.503G>A c.1025G>A (p.Arg342His) c.980G>A (p.Arg327His) c.424+1424G>A c.758G>A (p.Arg253His) c.*835G>A (n.*835G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904969G>A | CA10406084 | SLC35A2 | c.940C>T (p.Arg314Cys) c.355-77C>T (n.355-77C>T) c.427-77C>T (n.427-77C>T) c.502C>T c.1024C>T (p.Arg342Cys) c.979C>T (p.Arg327Cys) c.424+1423C>T c.757C>T (p.Arg253Cys) c.*834C>T (n.*834C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904969G>C | CA412894736 | SLC35A2 | c.940C>G (p.Arg314Gly) c.355-77C>G (n.355-77C>G) c.427-77C>G (n.427-77C>G) c.502C>G c.1024C>G (p.Arg342Gly) c.979C>G (p.Arg327Gly) c.424+1423C>G c.757C>G (p.Arg253Gly) c.*834C>G (n.*834C>G) | |
X | g.48904969G= | CA2428428839 | SLC35A2 | c.940C= (p.Arg314=) c.355-77C= (n.355-77C=) c.427-77C= (n.427-77C=) c.502C= c.1024C= (p.Arg342=) c.979C= (p.Arg327=) c.424+1423C= c.757C= (p.Arg253=) c.*834C= (n.*834C=) | |
X | g.48904969G>T | CA412894738 | SLC35A2 | c.940C>A (p.Arg314Ser) c.355-77C>A (n.355-77C>A) c.427-77C>A (n.427-77C>A) c.502C>A c.1024C>A (p.Arg342Ser) c.979C>A (p.Arg327Ser) c.424+1423C>A c.757C>A (p.Arg253Ser) c.*834C>A (n.*834C>A) | gnomAD v4 |
X | g.48904970A= | CA2428428840 | SLC35A2 | c.939T= (p.Ile313=) c.355-78T= (n.355-78T=) c.427-78T= (n.427-78T=) c.501T= c.1023T= (p.Ile341=) c.978T= (p.Ile326=) c.424+1422T= c.756T= (p.Ile252=) c.*833T= (n.*833T=) | |
X | g.48904970A>C | CA412894741 | SLC35A2 | c.939T>G (p.Ile313Met) c.355-78T>G (n.355-78T>G) c.427-78T>G (n.427-78T>G) c.501T>G c.1023T>G (p.Ile341Met) c.978T>G (p.Ile326Met) c.424+1422T>G c.756T>G (p.Ile252Met) c.*833T>G (n.*833T>G) | |
X | g.48904970A>G | CA516359875 | SLC35A2 | c.939T>C (p.Ile313=) c.355-78T>C (n.355-78T>C) c.427-78T>C (n.427-78T>C) c.501T>C c.1023T>C (p.Ile341=) c.978T>C (p.Ile326=) c.424+1422T>C c.756T>C (p.Ile252=) c.*833T>C (n.*833T>C) | dbSNP |
X | g.48904970A>T | CA516359876 | SLC35A2 | c.939T>A (p.Ile313=) c.355-78T>A (n.355-78T>A) c.427-78T>A (n.427-78T>A) c.501T>A c.1023T>A (p.Ile341=) c.978T>A (p.Ile326=) c.424+1422T>A c.756T>A (p.Ile252=) c.*833T>A (n.*833T>A) | |
X | g.48904971A= | CA2428428841 | SLC35A2 | c.938T= (p.Ile313=) c.355-79T= (n.355-79T=) c.427-79T= (n.427-79T=) c.500T= c.1022T= (p.Ile341=) c.977T= (p.Ile326=) c.424+1421T= c.755T= (p.Ile252=) c.*832T= (n.*832T=) | |
X | g.48904971A>C | CA412894746 | SLC35A2 | c.938T>G (p.Ile313Ser) c.355-79T>G (n.355-79T>G) c.427-79T>G (n.427-79T>G) c.500T>G c.1022T>G (p.Ile341Ser) c.977T>G (p.Ile326Ser) c.424+1421T>G c.755T>G (p.Ile252Ser) c.*832T>G (n.*832T>G) | |
X | g.48904971A>G | CA412894742 | SLC35A2 | c.938T>C (p.Ile313Thr) c.355-79T>C (n.355-79T>C) c.427-79T>C (n.427-79T>C) c.500T>C c.1022T>C (p.Ile341Thr) c.977T>C (p.Ile326Thr) c.424+1421T>C c.755T>C (p.Ile252Thr) c.*832T>C (n.*832T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904971A>T | CA412894744 | SLC35A2 | c.938T>A (p.Ile313Asn) c.355-79T>A (n.355-79T>A) c.427-79T>A (n.427-79T>A) c.500T>A c.1022T>A (p.Ile341Asn) c.977T>A (p.Ile326Asn) c.424+1421T>A c.755T>A (p.Ile252Asn) c.*832T>A (n.*832T>A) | |
X | g.48904972T>A | CA412894749 | SLC35A2 | c.937A>T (p.Ile313Phe) c.355-80A>T (n.355-80A>T) c.427-80A>T (n.427-80A>T) c.499A>T c.1021A>T (p.Ile341Phe) c.976A>T (p.Ile326Phe) c.424+1420A>T c.754A>T (p.Ile252Phe) c.*831A>T (n.*831A>T) | |
X | g.48904972T>C | CA412894751 | SLC35A2 | c.937A>G (p.Ile313Val) c.355-80A>G (n.355-80A>G) c.427-80A>G (n.427-80A>G) c.499A>G c.1021A>G (p.Ile341Val) c.976A>G (p.Ile326Val) c.424+1420A>G c.754A>G (p.Ile252Val) c.*831A>G (n.*831A>G) | |
X | g.48904972T>G | CA412894752 | SLC35A2 | c.937A>C (p.Ile313Leu) c.355-80A>C (n.355-80A>C) c.427-80A>C (n.427-80A>C) c.499A>C c.1021A>C (p.Ile341Leu) c.976A>C (p.Ile326Leu) c.424+1420A>C c.754A>C (p.Ile252Leu) c.*831A>C (n.*831A>C) | gnomAD v4 |
X | g.48904973G>A | CA516359877 | SLC35A2 | c.936C>T (p.Ser312=) c.355-81C>T (n.355-81C>T) c.427-81C>T (n.427-81C>T) c.498C>T c.1020C>T (p.Ser340=) c.975C>T (p.Ser325=) c.424+1419C>T c.753C>T (p.Ser251=) c.*830C>T (n.*830C>T) | |
X | g.48904973G>C | CA516359878 | SLC35A2 | c.936C>G (p.Ser312=) c.355-81C>G (n.355-81C>G) c.427-81C>G (n.427-81C>G) c.498C>G c.1020C>G (p.Ser340=) c.975C>G (p.Ser325=) c.424+1419C>G c.753C>G (p.Ser251=) c.*830C>G (n.*830C>G) | |
X | g.48904973G>T | CA516359879 | SLC35A2 | c.936C>A (p.Ser312=) c.355-81C>A (n.355-81C>A) c.427-81C>A (n.427-81C>A) c.498C>A c.1020C>A (p.Ser340=) c.975C>A (p.Ser325=) c.424+1419C>A c.753C>A (p.Ser251=) c.*830C>A (n.*830C>A) | |
X | g.48904974G>A | CA412894755 | SLC35A2 | c.935C>T (p.Ser312Phe) c.355-82C>T (n.355-82C>T) c.427-82C>T (n.427-82C>T) c.497C>T c.1019C>T (p.Ser340Phe) c.974C>T (p.Ser325Phe) c.424+1418C>T c.752C>T (p.Ser251Phe) c.*829C>T (n.*829C>T) | |
X | g.48904974G>C | CA412894757 | SLC35A2 | c.935C>G (p.Ser312Cys) c.355-82C>G (n.355-82C>G) c.427-82C>G (n.427-82C>G) c.497C>G c.1019C>G (p.Ser340Cys) c.974C>G (p.Ser325Cys) c.424+1418C>G c.752C>G (p.Ser251Cys) c.*829C>G (n.*829C>G) | |
X | g.48904974G>T | CA412894758 | SLC35A2 | c.935C>A (p.Ser312Tyr) c.355-82C>A (n.355-82C>A) c.427-82C>A (n.427-82C>A) c.497C>A c.1019C>A (p.Ser340Tyr) c.974C>A (p.Ser325Tyr) c.424+1418C>A c.752C>A (p.Ser251Tyr) c.*829C>A (n.*829C>A) | |
X | g.48904975A>C | CA412894761 | SLC35A2 | c.934T>G (p.Ser312Ala) c.355-83T>G (n.355-83T>G) c.427-83T>G (n.427-83T>G) c.496T>G c.1018T>G (p.Ser340Ala) c.973T>G (p.Ser325Ala) c.424+1417T>G c.751T>G (p.Ser251Ala) c.*828T>G (n.*828T>G) | |
X | g.48904975A>G | CA412894763 | SLC35A2 | c.934T>C (p.Ser312Pro) c.355-83T>C (n.355-83T>C) c.427-83T>C (n.427-83T>C) c.496T>C c.1018T>C (p.Ser340Pro) c.973T>C (p.Ser325Pro) c.424+1417T>C c.751T>C (p.Ser251Pro) c.*828T>C (n.*828T>C) | |
X | g.48904975A>T | CA412894765 | SLC35A2 | c.934T>A (p.Ser312Thr) c.355-83T>A (n.355-83T>A) c.427-83T>A (n.427-83T>A) c.496T>A c.1018T>A (p.Ser340Thr) c.973T>A (p.Ser325Thr) c.424+1417T>A c.751T>A (p.Ser251Thr) c.*828T>A (n.*828T>A) | |
X | g.48904976G>A | CA516359880 | SLC35A2 | c.933C>T (p.Ala311=) c.355-84C>T (n.355-84C>T) c.427-84C>T (n.427-84C>T) c.495C>T c.1017C>T (p.Ala339=) c.972C>T (p.Ala324=) c.424+1416C>T c.750C>T (p.Ala250=) c.*827C>T (n.*827C>T) | dbSNP gnomAD v4 |
X | g.48904976G>C | CA516359881 | SLC35A2 | c.933C>G (p.Ala311=) c.355-84C>G (n.355-84C>G) c.427-84C>G (n.427-84C>G) c.495C>G c.1017C>G (p.Ala339=) c.972C>G (p.Ala324=) c.424+1416C>G c.750C>G (p.Ala250=) c.*827C>G (n.*827C>G) | |
X | g.48904976G= | CA2428428842 | SLC35A2 | c.933C= (p.Ala311=) c.355-84C= (n.355-84C=) c.427-84C= (n.427-84C=) c.495C= c.1017C= (p.Ala339=) c.972C= (p.Ala324=) c.424+1416C= c.750C= (p.Ala250=) c.*827C= (n.*827C=) | |
X | g.48904976G>T | CA516359882 | SLC35A2 | c.933C>A (p.Ala311=) c.355-84C>A (n.355-84C>A) c.427-84C>A (n.427-84C>A) c.495C>A c.1017C>A (p.Ala339=) c.972C>A (p.Ala324=) c.424+1416C>A c.750C>A (p.Ala250=) c.*827C>A (n.*827C>A) | |
X | g.48904977G>A | CA412894767 | SLC35A2 | c.932C>T (p.Ala311Val) c.355-85C>T (n.355-85C>T) c.427-85C>T (n.427-85C>T) c.494C>T c.1016C>T (p.Ala339Val) c.971C>T (p.Ala324Val) c.424+1415C>T c.749C>T (p.Ala250Val) c.*826C>T (n.*826C>T) | |
X | g.48904977G>C | CA412894769 | SLC35A2 | c.932C>G (p.Ala311Gly) c.355-85C>G (n.355-85C>G) c.427-85C>G (n.427-85C>G) c.494C>G c.1016C>G (p.Ala339Gly) c.971C>G (p.Ala324Gly) c.424+1415C>G c.749C>G (p.Ala250Gly) c.*826C>G (n.*826C>G) | |
X | g.48904977G>T | CA412894771 | SLC35A2 | c.932C>A (p.Ala311Asp) c.355-85C>A (n.355-85C>A) c.427-85C>A (n.427-85C>A) c.494C>A c.1016C>A (p.Ala339Asp) c.971C>A (p.Ala324Asp) c.424+1415C>A c.749C>A (p.Ala250Asp) c.*826C>A (n.*826C>A) | |
X | g.48904978C>A | CA412894773 | SLC35A2 | c.931G>T (p.Ala311Ser) c.355-86G>T (n.355-86G>T) c.427-86G>T (n.427-86G>T) c.493G>T c.1015G>T (p.Ala339Ser) c.970G>T (p.Ala324Ser) c.424+1414G>T c.748G>T (p.Ala250Ser) c.*825G>T (n.*825G>T) | |
X | g.48904978C>G | CA412894777 | SLC35A2 | c.931G>C (p.Ala311Pro) c.355-86G>C (n.355-86G>C) c.427-86G>C (n.427-86G>C) c.493G>C c.1015G>C (p.Ala339Pro) c.970G>C (p.Ala324Pro) c.424+1414G>C c.748G>C (p.Ala250Pro) c.*825G>C (n.*825G>C) | |
X | g.48904978C>T | CA412894775 | SLC35A2 | c.931G>A (p.Ala311Thr) c.355-86G>A (n.355-86G>A) c.427-86G>A (n.427-86G>A) c.493G>A c.1015G>A (p.Ala339Thr) c.970G>A (p.Ala324Thr) c.424+1414G>A c.748G>A (p.Ala250Thr) c.*825G>A (n.*825G>A) | |
X | g.48904979A>C | CA516359883 | SLC35A2 | c.930T>G (p.Val310=) c.355-87T>G (n.355-87T>G) c.427-87T>G (n.427-87T>G) c.492T>G c.1014T>G (p.Val338=) c.969T>G (p.Val323=) c.424+1413T>G c.747T>G (p.Val249=) c.*824T>G (n.*824T>G) | |
X | g.48904979A>G | CA516359884 | SLC35A2 | c.930T>C (p.Val310=) c.355-87T>C (n.355-87T>C) c.427-87T>C (n.427-87T>C) c.492T>C c.1014T>C (p.Val338=) c.969T>C (p.Val323=) c.424+1413T>C c.747T>C (p.Val249=) c.*824T>C (n.*824T>C) | |
X | g.48904979A>T | CA516359885 | SLC35A2 | c.930T>A (p.Val310=) c.355-87T>A (n.355-87T>A) c.427-87T>A (n.427-87T>A) c.492T>A c.1014T>A (p.Val338=) c.969T>A (p.Val323=) c.424+1413T>A c.747T>A (p.Val249=) c.*824T>A (n.*824T>A) | |
X | g.48904980A>C | CA412894779 | SLC35A2 | c.929T>G (p.Val310Gly) c.355-88T>G (n.355-88T>G) c.427-88T>G (n.427-88T>G) c.491T>G c.1013T>G (p.Val338Gly) c.968T>G (p.Val323Gly) c.424+1412T>G c.746T>G (p.Val249Gly) c.*823T>G (n.*823T>G) | |
X | g.48904980A>G | CA412894781 | SLC35A2 | c.929T>C (p.Val310Ala) c.355-88T>C (n.355-88T>C) c.427-88T>C (n.427-88T>C) c.491T>C c.1013T>C (p.Val338Ala) c.968T>C (p.Val323Ala) c.424+1412T>C c.746T>C (p.Val249Ala) c.*823T>C (n.*823T>C) | |
X | g.48904980A>T | CA412894783 | SLC35A2 | c.929T>A (p.Val310Asp) c.355-88T>A (n.355-88T>A) c.427-88T>A (n.427-88T>A) c.491T>A c.1013T>A (p.Val338Asp) c.968T>A (p.Val323Asp) c.424+1412T>A c.746T>A (p.Val249Asp) c.*823T>A (n.*823T>A) | |
X | g.48904983_48904994dup | CA2740092153 | SLC35A2 | c.918_929dup (p.Val310_Ala311insLeuSerThrVal) c.355-99_355-88dup (n.355-99_355-88dup) c.427-99_427-88dup (n.427-99_427-88dup) c.480_491dup c.1002_1013dup (p.Val338_Ala339insLeuSerThrVal) c.957_968dup (p.Val323_Ala324insLeuSerThrVal) c.424+1401_424+1412dup c.735_746dup (p.Val249_Ala250insLeuSerThrVal) c.*812_*823dup (n.*812_*823dup) | ClinVar |
X | g.48904981C>A | CA412894785 | SLC35A2 | c.928G>T (p.Val310Phe) c.355-89G>T (n.355-89G>T) c.427-89G>T (n.427-89G>T) c.490G>T c.1012G>T (p.Val338Phe) c.967G>T (p.Val323Phe) c.424+1411G>T c.745G>T (p.Val249Phe) c.*822G>T (n.*822G>T) | |
X | g.48904981C>G | CA412894787 | SLC35A2 | c.928G>C (p.Val310Leu) c.355-89G>C (n.355-89G>C) c.427-89G>C (n.427-89G>C) c.490G>C c.1012G>C (p.Val338Leu) c.967G>C (p.Val323Leu) c.424+1411G>C c.745G>C (p.Val249Leu) c.*822G>C (n.*822G>C) | gnomAD v4 |
X | g.48904981C>T | CA412894789 | SLC35A2 | c.928G>A (p.Val310Ile) c.355-89G>A (n.355-89G>A) c.427-89G>A (n.427-89G>A) c.490G>A c.1012G>A (p.Val338Ile) c.967G>A (p.Val323Ile) c.424+1411G>A c.745G>A (p.Val249Ile) c.*822G>A (n.*822G>A) | |
X | g.48904982A= | CA2428428843 | SLC35A2 | c.927T= (p.Thr309=) c.355-90T= (n.355-90T=) c.427-90T= (n.427-90T=) c.489T= c.1011T= (p.Thr337=) c.966T= (p.Thr322=) c.424+1410T= c.744T= (p.Thr248=) c.*821T= (n.*821T=) | |
X | g.48904982A>C | CA516359888 | SLC35A2 | c.927T>G (p.Thr309=) c.355-90T>G (n.355-90T>G) c.427-90T>G (n.427-90T>G) c.489T>G c.1011T>G (p.Thr337=) c.966T>G (p.Thr322=) c.424+1410T>G c.744T>G (p.Thr248=) c.*821T>G (n.*821T>G) | |
X | g.48904982A>G | CA516359886 | SLC35A2 | c.927T>C (p.Thr309=) c.355-90T>C (n.355-90T>C) c.427-90T>C (n.427-90T>C) c.489T>C c.1011T>C (p.Thr337=) c.966T>C (p.Thr322=) c.424+1410T>C c.744T>C (p.Thr248=) c.*821T>C (n.*821T>C) | dbSNP gnomAD v4 |
X | g.48904982A>T | CA516359887 | SLC35A2 | c.927T>A (p.Thr309=) c.355-90T>A (n.355-90T>A) c.427-90T>A (n.427-90T>A) c.489T>A c.1011T>A (p.Thr337=) c.966T>A (p.Thr322=) c.424+1410T>A c.744T>A (p.Thr248=) c.*821T>A (n.*821T>A) | |
X | g.48904983G>A | CA412894791 | SLC35A2 | c.926C>T (p.Thr309Ile) c.355-91C>T (n.355-91C>T) c.427-91C>T (n.427-91C>T) c.488C>T c.1010C>T (p.Thr337Ile) c.965C>T (p.Thr322Ile) c.424+1409C>T c.743C>T (p.Thr248Ile) c.*820C>T (n.*820C>T) | |
X | g.48904983G>C | CA412894793 | SLC35A2 | c.926C>G (p.Thr309Ser) c.355-91C>G (n.355-91C>G) c.427-91C>G (n.427-91C>G) c.488C>G c.1010C>G (p.Thr337Ser) c.965C>G (p.Thr322Ser) c.424+1409C>G c.743C>G (p.Thr248Ser) c.*820C>G (n.*820C>G) | |
X | g.48904983G>T | CA412894795 | SLC35A2 | c.926C>A (p.Thr309Asn) c.355-91C>A (n.355-91C>A) c.427-91C>A (n.427-91C>A) c.488C>A c.1010C>A (p.Thr337Asn) c.965C>A (p.Thr322Asn) c.424+1409C>A c.743C>A (p.Thr248Asn) c.*820C>A (n.*820C>A) | |
X | g.48904984T>A | CA412894800 | SLC35A2 | c.925A>T (p.Thr309Ser) c.355-92A>T (n.355-92A>T) c.427-92A>T (n.427-92A>T) c.487A>T c.1009A>T (p.Thr337Ser) c.964A>T (p.Thr322Ser) c.424+1408A>T c.742A>T (p.Thr248Ser) c.*819A>T (n.*819A>T) | |
X | g.48904984T>C | CA412894802 | SLC35A2 | c.925A>G (p.Thr309Ala) c.355-92A>G (n.355-92A>G) c.427-92A>G (n.427-92A>G) c.487A>G c.1009A>G (p.Thr337Ala) c.964A>G (p.Thr322Ala) c.424+1408A>G c.742A>G (p.Thr248Ala) c.*819A>G (n.*819A>G) | |
X | g.48904984T>G | CA412894804 | SLC35A2 | c.925A>C (p.Thr309Pro) c.355-92A>C (n.355-92A>C) c.427-92A>C (n.427-92A>C) c.487A>C c.1009A>C (p.Thr337Pro) c.964A>C (p.Thr322Pro) c.424+1408A>C c.742A>C (p.Thr248Pro) c.*819A>C (n.*819A>C) | |
X | g.48904985G>A | CA516359889 | SLC35A2 | c.924C>T (p.Ser308=) c.355-93C>T (n.355-93C>T) c.427-93C>T (n.427-93C>T) c.486C>T c.1008C>T (p.Ser336=) c.963C>T (p.Ser321=) c.424+1407C>T c.741C>T (p.Ser247=) c.*818C>T (n.*818C>T) | |
X | g.48904985G>C | CA516359890 | SLC35A2 | c.924C>G (p.Ser308=) c.355-93C>G (n.355-93C>G) c.427-93C>G (n.427-93C>G) c.486C>G c.1008C>G (p.Ser336=) c.963C>G (p.Ser321=) c.424+1407C>G c.741C>G (p.Ser247=) c.*818C>G (n.*818C>G) | |
X | g.48904985G>T | CA516359891 | SLC35A2 | c.924C>A (p.Ser308=) c.355-93C>A (n.355-93C>A) c.427-93C>A (n.427-93C>A) c.486C>A c.1008C>A (p.Ser336=) c.963C>A (p.Ser321=) c.424+1407C>A c.741C>A (p.Ser247=) c.*818C>A (n.*818C>A) | |
X | g.48904986G>A | CA412894810 | SLC35A2 | c.923C>T (p.Ser308Phe) c.355-94C>T (n.355-94C>T) c.427-94C>T (n.427-94C>T) c.485C>T c.1007C>T (p.Ser336Phe) c.962C>T (p.Ser321Phe) c.424+1406C>T c.740C>T (p.Ser247Phe) c.*817C>T (n.*817C>T) | ClinVar |
X | g.48904986G>C | CA412894807 | SLC35A2 | c.923C>G (p.Ser308Cys) c.355-94C>G (n.355-94C>G) c.427-94C>G (n.427-94C>G) c.485C>G c.1007C>G (p.Ser336Cys) c.962C>G (p.Ser321Cys) c.424+1406C>G c.740C>G (p.Ser247Cys) c.*817C>G (n.*817C>G) | |
X | g.48904986G>T | CA412894808 | SLC35A2 | c.923C>A (p.Ser308Tyr) c.355-94C>A (n.355-94C>A) c.427-94C>A (n.427-94C>A) c.485C>A c.1007C>A (p.Ser336Tyr) c.962C>A (p.Ser321Tyr) c.424+1406C>A c.740C>A (p.Ser247Tyr) c.*817C>A (n.*817C>A) | |
X | g.48904987A>C | CA412894811 | SLC35A2 | c.922T>G (p.Ser308Ala) c.355-95T>G (n.355-95T>G) c.427-95T>G (n.427-95T>G) c.484T>G c.1006T>G (p.Ser336Ala) c.961T>G (p.Ser321Ala) c.424+1405T>G c.739T>G (p.Ser247Ala) c.*816T>G (n.*816T>G) | |
X | g.48904987A>G | CA412894812 | SLC35A2 | c.922T>C (p.Ser308Pro) c.355-95T>C (n.355-95T>C) c.427-95T>C (n.427-95T>C) c.484T>C c.1006T>C (p.Ser336Pro) c.961T>C (p.Ser321Pro) c.424+1405T>C c.739T>C (p.Ser247Pro) c.*816T>C (n.*816T>C) | |
X | g.48904987A>T | CA412894813 | SLC35A2 | c.922T>A (p.Ser308Thr) c.355-95T>A (n.355-95T>A) c.427-95T>A (n.427-95T>A) c.484T>A c.1006T>A (p.Ser336Thr) c.961T>A (p.Ser321Thr) c.424+1405T>A c.739T>A (p.Ser247Thr) c.*816T>A (n.*816T>A) | |
X | g.48904988C>A | CA516359894 | SLC35A2 | c.921G>T (p.Leu307=) c.355-96G>T (n.355-96G>T) c.427-96G>T (n.427-96G>T) c.483G>T c.1005G>T (p.Leu335=) c.960G>T (p.Leu320=) c.424+1404G>T c.738G>T (p.Leu246=) c.*815G>T (n.*815G>T) | |
X | g.48904988C>G | CA516359892 | SLC35A2 | c.921G>C (p.Leu307=) c.355-96G>C (n.355-96G>C) c.427-96G>C (n.427-96G>C) c.483G>C c.1005G>C (p.Leu335=) c.960G>C (p.Leu320=) c.424+1404G>C c.738G>C (p.Leu246=) c.*815G>C (n.*815G>C) | |
X | g.48904988C>T | CA516359893 | SLC35A2 | c.921G>A (p.Leu307=) c.355-96G>A (n.355-96G>A) c.427-96G>A (n.427-96G>A) c.483G>A c.1005G>A (p.Leu335=) c.960G>A (p.Leu320=) c.424+1404G>A c.738G>A (p.Leu246=) c.*815G>A (n.*815G>A) | |
X | g.48904989A>C | CA412894816 | SLC35A2 | c.920T>G (p.Leu307Arg) c.355-97T>G (n.355-97T>G) c.427-97T>G (n.427-97T>G) c.482T>G c.1004T>G (p.Leu335Arg) c.959T>G (p.Leu320Arg) c.424+1403T>G c.737T>G (p.Leu246Arg) c.*814T>G (n.*814T>G) | |
X | g.48904989A>G | CA412894817 | SLC35A2 | c.920T>C (p.Leu307Pro) c.355-97T>C (n.355-97T>C) c.427-97T>C (n.427-97T>C) c.482T>C c.1004T>C (p.Leu335Pro) c.959T>C (p.Leu320Pro) c.424+1403T>C c.737T>C (p.Leu246Pro) c.*814T>C (n.*814T>C) | |
X | g.48904989A>T | CA412894819 | SLC35A2 | c.920T>A (p.Leu307Gln) c.355-97T>A (n.355-97T>A) c.427-97T>A (n.427-97T>A) c.482T>A c.1004T>A (p.Leu335Gln) c.959T>A (p.Leu320Gln) c.424+1403T>A c.737T>A (p.Leu246Gln) c.*814T>A (n.*814T>A) | |
X | g.48904990G>A | CA516359895 | SLC35A2 | c.919C>T (p.Leu307=) c.355-98C>T (n.355-98C>T) c.427-98C>T (n.427-98C>T) c.481C>T c.1003C>T (p.Leu335=) c.958C>T (p.Leu320=) c.424+1402C>T c.736C>T (p.Leu246=) c.*813C>T (n.*813C>T) | dbSNP gnomAD v4 |
X | g.48904990G>C | CA412894821 | SLC35A2 | c.919C>G (p.Leu307Val) c.355-98C>G (n.355-98C>G) c.427-98C>G (n.427-98C>G) c.481C>G c.1003C>G (p.Leu335Val) c.958C>G (p.Leu320Val) c.424+1402C>G c.736C>G (p.Leu246Val) c.*813C>G (n.*813C>G) | |
X | g.48904990G= | CA2428428844 | SLC35A2 | c.919C= (p.Leu307=) c.355-98C= (n.355-98C=) c.427-98C= (n.427-98C=) c.481C= c.1003C= (p.Leu335=) c.958C= (p.Leu320=) c.424+1402C= c.736C= (p.Leu246=) c.*813C= (n.*813C=) | |
X | g.48904990G>T | CA412894823 | SLC35A2 | c.919C>A (p.Leu307Met) c.355-98C>A (n.355-98C>A) c.427-98C>A (n.427-98C>A) c.481C>A c.1003C>A (p.Leu335Met) c.958C>A (p.Leu320Met) c.424+1402C>A c.736C>A (p.Leu246Met) c.*813C>A (n.*813C>A) | |
X | g.48904991C>A | CA516359896 | SLC35A2 | c.918G>T (p.Val306=) c.355-99G>T (n.355-99G>T) c.427-99G>T (n.427-99G>T) c.480G>T c.1002G>T (p.Val334=) c.957G>T (p.Val319=) c.424+1401G>T c.735G>T (p.Val245=) c.*812G>T (n.*812G>T) | |
X | g.48904991C>G | CA516359897 | SLC35A2 | c.918G>C (p.Val306=) c.355-99G>C (n.355-99G>C) c.427-99G>C (n.427-99G>C) c.480G>C c.1002G>C (p.Val334=) c.957G>C (p.Val319=) c.424+1401G>C c.735G>C (p.Val245=) c.*812G>C (n.*812G>C) | |
X | g.48904991C>T | CA516359898 | SLC35A2 | c.918G>A (p.Val306=) c.355-99G>A (n.355-99G>A) c.427-99G>A (n.427-99G>A) c.480G>A c.1002G>A (p.Val334=) c.957G>A (p.Val319=) c.424+1401G>A c.735G>A (p.Val245=) c.*812G>A (n.*812G>A) | gnomAD v4 |
X | g.48904992A>C | CA412894825 | SLC35A2 | c.917T>G (p.Val306Gly) c.355-100T>G (n.355-100T>G) c.427-100T>G (n.427-100T>G) c.479T>G c.1001T>G (p.Val334Gly) c.956T>G (p.Val319Gly) c.424+1400T>G c.734T>G (p.Val245Gly) c.*811T>G (n.*811T>G) | |
X | g.48904992A>G | CA412894827 | SLC35A2 | c.917T>C (p.Val306Ala) c.355-100T>C (n.355-100T>C) c.427-100T>C (n.427-100T>C) c.479T>C c.1001T>C (p.Val334Ala) c.956T>C (p.Val319Ala) c.424+1400T>C c.734T>C (p.Val245Ala) c.*811T>C (n.*811T>C) | |
X | g.48904992A>T | CA412894829 | SLC35A2 | c.917T>A (p.Val306Glu) c.355-100T>A (n.355-100T>A) c.427-100T>A (n.427-100T>A) c.479T>A c.1001T>A (p.Val334Glu) c.956T>A (p.Val319Glu) c.424+1400T>A c.734T>A (p.Val245Glu) c.*811T>A (n.*811T>A) | |
X | g.48904993C>A | CA412894833 | SLC35A2 | c.916G>T (p.Val306Leu) c.355-101G>T (n.355-101G>T) c.427-101G>T (n.427-101G>T) c.478G>T c.1000G>T (p.Val334Leu) c.955G>T (p.Val319Leu) c.424+1399G>T c.733G>T (p.Val245Leu) c.*810G>T (n.*810G>T) | |
X | g.48904993C>G | CA412894835 | SLC35A2 | c.916G>C (p.Val306Leu) c.355-101G>C (n.355-101G>C) c.427-101G>C (n.427-101G>C) c.478G>C c.1000G>C (p.Val334Leu) c.955G>C (p.Val319Leu) c.424+1399G>C c.733G>C (p.Val245Leu) c.*810G>C (n.*810G>C) | |
X | g.48904993C>T | CA412894831 | SLC35A2 | c.916G>A (p.Val306Met) c.355-101G>A (n.355-101G>A) c.427-101G>A (n.427-101G>A) c.478G>A c.1000G>A (p.Val334Met) c.955G>A (p.Val319Met) c.424+1399G>A c.733G>A (p.Val245Met) c.*810G>A (n.*810G>A) | |
X | g.48904994A>C | CA412894837 | SLC35A2 | c.915T>G (p.Ile305Met) c.355-102T>G (n.355-102T>G) c.427-102T>G (n.427-102T>G) c.477T>G c.999T>G (p.Ile333Met) c.954T>G (p.Ile318Met) c.424+1398T>G c.732T>G (p.Ile244Met) c.*809T>G (n.*809T>G) | |
X | g.48904994A>G | CA516359900 | SLC35A2 | c.915T>C (p.Ile305=) c.355-102T>C (n.355-102T>C) c.427-102T>C (n.427-102T>C) c.477T>C c.999T>C (p.Ile333=) c.954T>C (p.Ile318=) c.424+1398T>C c.732T>C (p.Ile244=) c.*809T>C (n.*809T>C) | |
X | g.48904994A>T | CA516359901 | SLC35A2 | c.915T>A (p.Ile305=) c.355-102T>A (n.355-102T>A) c.427-102T>A (n.427-102T>A) c.477T>A c.999T>A (p.Ile333=) c.954T>A (p.Ile318=) c.424+1398T>A c.732T>A (p.Ile244=) c.*809T>A (n.*809T>A) | |
X | g.48904995A>C | CA412894839 | SLC35A2 | c.914T>G (p.Ile305Ser) c.355-103T>G (n.355-103T>G) c.427-103T>G (n.427-103T>G) c.476T>G c.998T>G (p.Ile333Ser) c.953T>G (p.Ile318Ser) c.424+1397T>G c.731T>G (p.Ile244Ser) c.*808T>G (n.*808T>G) | |
X | g.48904995A>G | CA412894841 | SLC35A2 | c.914T>C (p.Ile305Thr) c.355-103T>C (n.355-103T>C) c.427-103T>C (n.427-103T>C) c.476T>C c.998T>C (p.Ile333Thr) c.953T>C (p.Ile318Thr) c.424+1397T>C c.731T>C (p.Ile244Thr) c.*808T>C (n.*808T>C) | |
X | g.48904995A>T | CA412894843 | SLC35A2 | c.914T>A (p.Ile305Asn) c.355-103T>A (n.355-103T>A) c.427-103T>A (n.427-103T>A) c.476T>A c.998T>A (p.Ile333Asn) c.953T>A (p.Ile318Asn) c.424+1397T>A c.731T>A (p.Ile244Asn) c.*808T>A (n.*808T>A) | |
X | g.48904996T>A | CA412894846 | SLC35A2 | c.913A>T (p.Ile305Phe) c.355-104A>T (n.355-104A>T) c.427-104A>T (n.427-104A>T) c.475A>T c.997A>T (p.Ile333Phe) c.952A>T (p.Ile318Phe) c.424+1396A>T c.730A>T (p.Ile244Phe) c.*807A>T (n.*807A>T) | |
X | g.48904996T>C | CA412894851 | SLC35A2 | c.913A>G (p.Ile305Val) c.355-104A>G (n.355-104A>G) c.427-104A>G (n.427-104A>G) c.475A>G c.997A>G (p.Ile333Val) c.952A>G (p.Ile318Val) c.424+1396A>G c.730A>G (p.Ile244Val) c.*807A>G (n.*807A>G) | |
X | g.48904996T>G | CA412894852 | SLC35A2 | c.913A>C (p.Ile305Leu) c.355-104A>C (n.355-104A>C) c.427-104A>C (n.427-104A>C) c.475A>C c.997A>C (p.Ile333Leu) c.952A>C (p.Ile318Leu) c.424+1396A>C c.730A>C (p.Ile244Leu) c.*807A>C (n.*807A>C) | |
X | g.48904997G>A | CA516359902 | SLC35A2 | c.912C>T (p.Ser304=) c.355-105C>T (n.355-105C>T) c.427-105C>T (n.427-105C>T) c.474C>T c.996C>T (p.Ser332=) c.951C>T (p.Ser317=) c.424+1395C>T c.729C>T (p.Ser243=) c.*806C>T (n.*806C>T) | |
X | g.48904997G>C | CA516359903 | SLC35A2 | c.912C>G (p.Ser304=) c.355-105C>G (n.355-105C>G) c.427-105C>G (n.427-105C>G) c.474C>G c.996C>G (p.Ser332=) c.951C>G (p.Ser317=) c.424+1395C>G c.729C>G (p.Ser243=) c.*806C>G (n.*806C>G) | |
X | g.48904997G>T | CA516359904 | SLC35A2 | c.912C>A (p.Ser304=) c.355-105C>A (n.355-105C>A) c.427-105C>A (n.427-105C>A) c.474C>A c.996C>A (p.Ser332=) c.951C>A (p.Ser317=) c.424+1395C>A c.729C>A (p.Ser243=) c.*806C>A (n.*806C>A) | |
X | g.48904998G>A | CA412894856 | SLC35A2 | c.911C>T (p.Ser304Phe) c.355-106C>T (n.355-106C>T) c.427-106C>T (n.427-106C>T) c.473C>T c.995C>T (p.Ser332Phe) c.950C>T (p.Ser317Phe) c.424+1394C>T c.728C>T (p.Ser243Phe) c.*805C>T (n.*805C>T) | |
X | g.48904998G>C | CA412894861 | SLC35A2 | c.911C>G (p.Ser304Cys) c.355-106C>G (n.355-106C>G) c.427-106C>G (n.427-106C>G) c.473C>G c.995C>G (p.Ser332Cys) c.950C>G (p.Ser317Cys) c.424+1394C>G c.728C>G (p.Ser243Cys) c.*805C>G (n.*805C>G) | |
X | g.48904998G>T | CA412894863 | SLC35A2 | c.911C>A (p.Ser304Tyr) c.355-106C>A (n.355-106C>A) c.427-106C>A (n.427-106C>A) c.473C>A c.995C>A (p.Ser332Tyr) c.950C>A (p.Ser317Tyr) c.424+1394C>A c.728C>A (p.Ser243Tyr) c.*805C>A (n.*805C>A) | |
X | g.48904999A>C | CA412894866 | SLC35A2 | c.910T>G (p.Ser304Ala) c.355-107T>G (n.355-107T>G) c.427-107T>G (n.427-107T>G) c.472T>G c.994T>G (p.Ser332Ala) c.949T>G (p.Ser317Ala) c.424+1393T>G c.727T>G (p.Ser243Ala) c.*804T>G (n.*804T>G) | |
X | g.48904999A>G | CA412894867 | SLC35A2 | c.910T>C (p.Ser304Pro) c.355-107T>C (n.355-107T>C) c.427-107T>C (n.427-107T>C) c.472T>C c.994T>C (p.Ser332Pro) c.949T>C (p.Ser317Pro) c.424+1393T>C c.727T>C (p.Ser243Pro) c.*804T>C (n.*804T>C) | ClinVar dbSNP |
X | g.48904999A>T | CA412894868 | SLC35A2 | c.910T>A (p.Ser304Thr) c.355-107T>A (n.355-107T>A) c.427-107T>A (n.427-107T>A) c.472T>A c.994T>A (p.Ser332Thr) c.949T>A (p.Ser317Thr) c.424+1393T>A c.727T>A (p.Ser243Thr) c.*804T>A (n.*804T>A) | |
X | g.48905000C>A | CA516359905 | SLC35A2 | c.909G>T (p.Leu303=) c.355-108G>T (n.355-108G>T) c.427-108G>T (n.427-108G>T) c.471G>T c.993G>T (p.Leu331=) c.948G>T (p.Leu316=) c.424+1392G>T c.726G>T (p.Leu242=) c.*803G>T (n.*803G>T) | |
X | g.48905000C>G | CA516359906 | SLC35A2 | c.909G>C (p.Leu303=) c.355-108G>C (n.355-108G>C) c.427-108G>C (n.427-108G>C) c.471G>C c.993G>C (p.Leu331=) c.948G>C (p.Leu316=) c.424+1392G>C c.726G>C (p.Leu242=) c.*803G>C (n.*803G>C) | |
X | g.48905000C>T | CA516359907 | SLC35A2 | c.909G>A (p.Leu303=) c.355-108G>A (n.355-108G>A) c.427-108G>A (n.427-108G>A) c.471G>A c.993G>A (p.Leu331=) c.948G>A (p.Leu316=) c.424+1392G>A c.726G>A (p.Leu242=) c.*803G>A (n.*803G>A) | |
X | g.48905001A>C | CA412894875 | SLC35A2 | c.908T>G (p.Leu303Arg) c.355-109T>G (n.355-109T>G) c.427-109T>G (n.427-109T>G) c.470T>G c.992T>G (p.Leu331Arg) c.947T>G (p.Leu316Arg) c.424+1391T>G c.725T>G (p.Leu242Arg) c.*802T>G (n.*802T>G) | |
X | g.48905001A>G | CA412894873 | SLC35A2 | c.908T>C (p.Leu303Pro) c.355-109T>C (n.355-109T>C) c.427-109T>C (n.427-109T>C) c.470T>C c.992T>C (p.Leu331Pro) c.947T>C (p.Leu316Pro) c.424+1391T>C c.725T>C (p.Leu242Pro) c.*802T>C (n.*802T>C) | |
X | g.48905001A>T | CA412894871 | SLC35A2 | c.908T>A (p.Leu303Gln) c.355-109T>A (n.355-109T>A) c.427-109T>A (n.427-109T>A) c.470T>A c.992T>A (p.Leu331Gln) c.947T>A (p.Leu316Gln) c.424+1391T>A c.725T>A (p.Leu242Gln) c.*802T>A (n.*802T>A) | |
X | g.48905002G>A | CA516359908 | SLC35A2 | c.907C>T (p.Leu303=) c.355-110C>T (n.355-110C>T) c.427-110C>T (n.427-110C>T) c.469C>T c.991C>T (p.Leu331=) c.946C>T (p.Leu316=) c.424+1390C>T c.724C>T (p.Leu242=) c.*801C>T (n.*801C>T) | |
X | g.48905002G>C | CA412894877 | SLC35A2 | c.907C>G (p.Leu303Val) c.355-110C>G (n.355-110C>G) c.427-110C>G (n.427-110C>G) c.469C>G c.991C>G (p.Leu331Val) c.946C>G (p.Leu316Val) c.424+1390C>G c.724C>G (p.Leu242Val) c.*801C>G (n.*801C>G) | gnomAD v4 |
X | g.48905002G>T | CA412894879 | SLC35A2 | c.907C>A (p.Leu303Met) c.355-110C>A (n.355-110C>A) c.427-110C>A (n.427-110C>A) c.469C>A c.991C>A (p.Leu331Met) c.946C>A (p.Leu316Met) c.424+1390C>A c.724C>A (p.Leu242Met) c.*801C>A (n.*801C>A) | |
X | g.48905004dup | CA2840092319 | SLC35A2 | c.907dup (p.Leu303ProfsTer?) c.355-110dup (n.355-110dup) c.427-110dup (n.427-110dup) c.469dup c.991dup (p.Leu331ProfsTer?) c.946dup (p.Leu316ProfsTer?) c.424+1390dup c.724dup (p.Leu242ProfsTer?) c.*801dup (n.*801dup) | |
X | g.48905003G>A | CA516359909 | SLC35A2 | c.906C>T (p.Ser302=) c.355-111C>T (n.355-111C>T) c.427-111C>T (n.427-111C>T) c.468C>T c.990C>T (p.Ser330=) c.945C>T (p.Ser315=) c.424+1389C>T c.723C>T (p.Ser241=) c.*800C>T (n.*800C>T) | gnomAD v4 |
X | g.48905003G>C | CA516359910 | SLC35A2 | c.906C>G (p.Ser302=) c.355-111C>G (n.355-111C>G) c.427-111C>G (n.427-111C>G) c.468C>G c.990C>G (p.Ser330=) c.945C>G (p.Ser315=) c.424+1389C>G c.723C>G (p.Ser241=) c.*800C>G (n.*800C>G) | |
X | g.48905003G>T | CA516359911 | SLC35A2 | c.906C>A (p.Ser302=) c.355-111C>A (n.355-111C>A) c.427-111C>A (n.427-111C>A) c.468C>A c.990C>A (p.Ser330=) c.945C>A (p.Ser315=) c.424+1389C>A c.723C>A (p.Ser241=) c.*800C>A (n.*800C>A) | |
X | g.48905004G>A | CA412894881 | SLC35A2 | c.905C>T (p.Ser302Phe) c.355-112C>T (n.355-112C>T) c.427-112C>T (n.427-112C>T) c.467C>T c.989C>T (p.Ser330Phe) c.944C>T (p.Ser315Phe) c.424+1388C>T c.722C>T (p.Ser241Phe) c.*799C>T (n.*799C>T) | ClinVar |
X | g.48905004G>C | CA412894882 | SLC35A2 | c.905C>G (p.Ser302Cys) c.355-112C>G (n.355-112C>G) c.427-112C>G (n.427-112C>G) c.467C>G c.989C>G (p.Ser330Cys) c.944C>G (p.Ser315Cys) c.424+1388C>G c.722C>G (p.Ser241Cys) c.*799C>G (n.*799C>G) | |
X | g.48905004G>T | CA412894883 | SLC35A2 | c.905C>A (p.Ser302Tyr) c.355-112C>A (n.355-112C>A) c.427-112C>A (n.427-112C>A) c.467C>A c.989C>A (p.Ser330Tyr) c.944C>A (p.Ser315Tyr) c.424+1388C>A c.722C>A (p.Ser241Tyr) c.*799C>A (n.*799C>A) | |
X | g.48905005A>C | CA412894885 | SLC35A2 | c.904T>G (p.Ser302Ala) c.355-113T>G (n.355-113T>G) c.427-113T>G (n.427-113T>G) c.466T>G c.988T>G (p.Ser330Ala) c.943T>G (p.Ser315Ala) c.424+1387T>G c.721T>G (p.Ser241Ala) c.*798T>G (n.*798T>G) | |
X | g.48905005A>G | CA412894886 | SLC35A2 | c.904T>C (p.Ser302Pro) c.355-113T>C (n.355-113T>C) c.427-113T>C (n.427-113T>C) c.466T>C c.988T>C (p.Ser330Pro) c.943T>C (p.Ser315Pro) c.424+1387T>C c.721T>C (p.Ser241Pro) c.*798T>C (n.*798T>C) | |
X | g.48905005A>T | CA412894888 | SLC35A2 | c.904T>A (p.Ser302Thr) c.355-113T>A (n.355-113T>A) c.427-113T>A (n.427-113T>A) c.466T>A c.988T>A (p.Ser330Thr) c.943T>A (p.Ser315Thr) c.424+1387T>A c.721T>A (p.Ser241Thr) c.*798T>A (n.*798T>A) | |
X | g.48905006G>A | CA516359912 | SLC35A2 | c.903C>T (p.Thr301=) c.355-114C>T (n.355-114C>T) c.427-114C>T (n.427-114C>T) c.465C>T c.987C>T (p.Thr329=) c.942C>T (p.Thr314=) c.424+1386C>T c.720C>T (p.Thr240=) c.*797C>T (n.*797C>T) | dbSNP gnomAD v2 |
X | g.48905006G>C | CA516359913 | SLC35A2 | c.903C>G (p.Thr301=) c.355-114C>G (n.355-114C>G) c.427-114C>G (n.427-114C>G) c.465C>G c.987C>G (p.Thr329=) c.942C>G (p.Thr314=) c.424+1386C>G c.720C>G (p.Thr240=) c.*797C>G (n.*797C>G) | |
X | g.48905006G= | CA2428428845 | SLC35A2 | c.903C= (p.Thr301=) c.355-114C= (n.355-114C=) c.427-114C= (n.427-114C=) c.465C= c.987C= (p.Thr329=) c.942C= (p.Thr314=) c.424+1386C= c.720C= (p.Thr240=) c.*797C= (n.*797C=) | |
X | g.48905006G>T | CA10406085 | SLC35A2 | c.903C>A (p.Thr301=) c.355-114C>A (n.355-114C>A) c.427-114C>A (n.427-114C>A) c.465C>A c.987C>A (p.Thr329=) c.942C>A (p.Thr314=) c.424+1386C>A c.720C>A (p.Thr240=) c.*797C>A (n.*797C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48905007del | CA2840092320 | SLC35A2 | c.903del (p.Ser302ProfsTer?) c.355-114del (n.355-114del) c.427-114del (n.427-114del) c.465del c.987del (p.Ser330ProfsTer?) c.942del (p.Ser315ProfsTer?) c.424+1386del c.720del (p.Ser241ProfsTer?) c.*797del (n.*797del) | |
X | g.48905007G>A | CA412894889 | SLC35A2 | c.902C>T (p.Thr301Ile) c.355-115C>T (n.355-115C>T) c.427-115C>T (n.427-115C>T) c.464C>T c.986C>T (p.Thr329Ile) c.941C>T (p.Thr314Ile) c.424+1385C>T c.719C>T (p.Thr240Ile) c.*796C>T (n.*796C>T) | |
X | g.48905007G>C | CA412894891 | SLC35A2 | c.902C>G (p.Thr301Ser) c.355-115C>G (n.355-115C>G) c.427-115C>G (n.427-115C>G) c.464C>G c.986C>G (p.Thr329Ser) c.941C>G (p.Thr314Ser) c.424+1385C>G c.719C>G (p.Thr240Ser) c.*796C>G (n.*796C>G) | |
X | g.48905007G>T | CA412894892 | SLC35A2 | c.902C>A (p.Thr301Asn) c.355-115C>A (n.355-115C>A) c.427-115C>A (n.427-115C>A) c.464C>A c.986C>A (p.Thr329Asn) c.941C>A (p.Thr314Asn) c.424+1385C>A c.719C>A (p.Thr240Asn) c.*796C>A (n.*796C>A) | |
X | g.48905008T>A | CA412894898 | SLC35A2 | c.901A>T (p.Thr301Ser) c.355-116A>T (n.355-116A>T) c.427-116A>T (n.427-116A>T) c.463A>T c.985A>T (p.Thr329Ser) c.940A>T (p.Thr314Ser) c.424+1384A>T c.718A>T (p.Thr240Ser) c.*795A>T (n.*795A>T) | |
X | g.48905008T>C | CA412894897 | SLC35A2 | c.901A>G (p.Thr301Ala) c.355-116A>G (n.355-116A>G) c.427-116A>G (n.427-116A>G) c.463A>G c.985A>G (p.Thr329Ala) c.940A>G (p.Thr314Ala) c.424+1384A>G c.718A>G (p.Thr240Ala) c.*795A>G (n.*795A>G) | |
X | g.48905008T>G | CA412894895 | SLC35A2 | c.901A>C (p.Thr301Pro) c.355-116A>C (n.355-116A>C) c.427-116A>C (n.427-116A>C) c.463A>C c.985A>C (p.Thr329Pro) c.940A>C (p.Thr314Pro) c.424+1384A>C c.718A>C (p.Thr240Pro) c.*795A>C (n.*795A>C) | |
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) | |
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) |