| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) |