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.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.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.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) | |
| 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) |