| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.48904893_48904894del | CA2579602571 | SLC35A2 | c.1015_1016del (p.Ser339ProfsTer?) c.355-2_355-1del (n.355-2_355-1del) c.427-2_427-1del (n.427-2_427-1del) c.577_578del c.1099_1100del (p.Ser367ProfsTer?) c.1054_1055del (p.Ser352ProfsTer?) c.425-1429_425-1428del c.832_833del (p.Ser278ProfsTer?) c.*909_*910del (n.*909_*910del) | |
| X | g.48904894T>A | CA412894514 | SLC35A2 | c.1015A>T (p.Ser339Cys) c.355-2A>T (n.355-2A>T) c.427-2A>T (n.427-2A>T) c.577A>T c.1099A>T (p.Ser367Cys) c.1054A>T (p.Ser352Cys) c.425-1429A>T c.832A>T (p.Ser278Cys) c.*909A>T (n.*909A>T) | |
| X | g.48904894T>C | CA10406075 | SLC35A2 | c.1015A>G (p.Ser339Gly) c.355-2A>G (n.355-2A>G) c.427-2A>G (n.427-2A>G) c.577A>G c.1099A>G (p.Ser367Gly) c.1054A>G (p.Ser352Gly) c.425-1429A>G c.832A>G (p.Ser278Gly) c.*909A>G (n.*909A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48904894T>G | CA412894513 | SLC35A2 | c.1015A>C (p.Ser339Arg) c.355-2A>C (n.355-2A>C) c.427-2A>C (n.427-2A>C) c.577A>C c.1099A>C (p.Ser367Arg) c.1054A>C (p.Ser352Arg) c.425-1429A>C c.832A>C (p.Ser278Arg) c.*909A>C (n.*909A>C) | |
| X | g.48904894T= | CA2428428816 | SLC35A2 | c.1015A= (p.Ser339=) c.355-2A= (n.355-2A=) c.427-2A= (n.427-2A=) c.577A= c.1099A= (p.Ser367=) c.1054A= (p.Ser352=) c.425-1429A= c.832A= (p.Ser278=) c.*909A= (n.*909A=) | |
| X | g.48904895G>A | CA516359963 | SLC35A2 | c.1014C>T (p.Tyr338=) c.355-3C>T (n.355-3C>T) c.427-3C>T (n.427-3C>T) c.576C>T c.1098C>T (p.Tyr366=) c.1053C>T (p.Tyr351=) c.425-1430C>T c.831C>T (p.Tyr277=) c.*908C>T (n.*908C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.48904895G>C | CA412894515 | SLC35A2 | c.1014C>G (p.Tyr338Ter) c.355-3C>G (n.355-3C>G) c.427-3C>G (n.427-3C>G) c.576C>G c.1098C>G (p.Tyr366Ter) c.1053C>G (p.Tyr351Ter) c.425-1430C>G c.831C>G (p.Tyr277Ter) c.*908C>G (n.*908C>G) | |
| X | g.48904895G= | CA2428428817 | SLC35A2 | c.1014C= (p.Tyr338=) c.355-3C= (n.355-3C=) c.427-3C= (n.427-3C=) c.576C= c.1098C= (p.Tyr366=) c.1053C= (p.Tyr351=) c.425-1430C= c.831C= (p.Tyr277=) c.*908C= (n.*908C=) | |
| X | g.48904895G>T | CA412894516 | SLC35A2 | c.1014C>A (p.Tyr338Ter) c.355-3C>A (n.355-3C>A) c.427-3C>A (n.427-3C>A) c.576C>A c.1098C>A (p.Tyr366Ter) c.1053C>A (p.Tyr351Ter) c.425-1430C>A c.831C>A (p.Tyr277Ter) c.*908C>A (n.*908C>A) | |
| X | g.48904896T>A | CA412894517 | SLC35A2 | c.1013A>T (p.Tyr338Phe) c.355-4A>T (n.355-4A>T) c.427-4A>T (n.427-4A>T) c.575A>T c.1097A>T (p.Tyr366Phe) c.1052A>T (p.Tyr351Phe) c.425-1431A>T c.830A>T (p.Tyr277Phe) c.*907A>T (n.*907A>T) | |
| X | g.48904896T>C | CA412894518 | SLC35A2 | c.1013A>G (p.Tyr338Cys) c.355-4A>G (n.355-4A>G) c.427-4A>G (n.427-4A>G) c.575A>G c.1097A>G (p.Tyr366Cys) c.1052A>G (p.Tyr351Cys) c.425-1431A>G c.830A>G (p.Tyr277Cys) c.*907A>G (n.*907A>G) | dbSNP |
| X | g.48904896T>G | CA412894519 | SLC35A2 | c.1013A>C (p.Tyr338Ser) c.355-4A>C (n.355-4A>C) c.427-4A>C (n.427-4A>C) c.575A>C c.1097A>C (p.Tyr366Ser) c.1052A>C (p.Tyr351Ser) c.425-1431A>C c.830A>C (p.Tyr277Ser) c.*907A>C (n.*907A>C) | |
| X | g.48904897A>C | CA412894520 | SLC35A2 | c.1012T>G (p.Tyr338Asp) c.355-5T>G (n.355-5T>G) c.427-5T>G (n.427-5T>G) c.574T>G c.1096T>G (p.Tyr366Asp) c.1051T>G (p.Tyr351Asp) c.425-1432T>G c.829T>G (p.Tyr277Asp) c.*906T>G (n.*906T>G) | |
| X | g.48904897A>G | CA412894521 | SLC35A2 | c.1012T>C (p.Tyr338His) c.355-5T>C (n.355-5T>C) c.427-5T>C (n.427-5T>C) c.574T>C c.1096T>C (p.Tyr366His) c.1051T>C (p.Tyr351His) c.425-1432T>C c.829T>C (p.Tyr277His) c.*906T>C (n.*906T>C) | |
| X | g.48904897A>T | CA412894522 | SLC35A2 | c.1012T>A (p.Tyr338Asn) c.355-5T>A (n.355-5T>A) c.427-5T>A (n.427-5T>A) c.574T>A c.1096T>A (p.Tyr366Asn) c.1051T>A (p.Tyr351Asn) c.425-1432T>A c.829T>A (p.Tyr277Asn) c.*906T>A (n.*906T>A) | |
| X | g.48904898G>A | CA516359964 | SLC35A2 | c.1011C>T (p.Leu337=) c.355-6C>T (n.355-6C>T) c.427-6C>T (n.427-6C>T) c.573C>T c.1095C>T (p.Leu365=) c.1050C>T (p.Leu350=) c.425-1433C>T c.828C>T (p.Leu276=) c.*905C>T (n.*905C>T) | |
| X | g.48904898G>C | CA516359966 | SLC35A2 | c.1011C>G (p.Leu337=) c.355-6C>G (n.355-6C>G) c.427-6C>G (n.427-6C>G) c.573C>G c.1095C>G (p.Leu365=) c.1050C>G (p.Leu350=) c.425-1433C>G c.828C>G (p.Leu276=) c.*905C>G (n.*905C>G) | |
| X | g.48904898G>T | CA516359965 | SLC35A2 | c.1011C>A (p.Leu337=) c.355-6C>A (n.355-6C>A) c.427-6C>A (n.427-6C>A) c.573C>A c.1095C>A (p.Leu365=) c.1050C>A (p.Leu350=) c.425-1433C>A c.828C>A (p.Leu276=) c.*905C>A (n.*905C>A) | |
| X | g.48904899A>C | CA412894523 | SLC35A2 | c.1010T>G (p.Leu337Arg) c.355-7T>G (n.355-7T>G) c.427-7T>G (n.427-7T>G) c.572T>G c.1094T>G (p.Leu365Arg) c.1049T>G (p.Leu350Arg) c.425-1434T>G c.827T>G (p.Leu276Arg) c.*904T>G (n.*904T>G) | |
| X | g.48904899A>G | CA412894524 | SLC35A2 | c.1010T>C (p.Leu337Pro) c.355-7T>C (n.355-7T>C) c.427-7T>C (n.427-7T>C) c.572T>C c.1094T>C (p.Leu365Pro) c.1049T>C (p.Leu350Pro) c.425-1434T>C c.827T>C (p.Leu276Pro) c.*904T>C (n.*904T>C) | |
| X | g.48904899A>T | CA412894525 | SLC35A2 | c.1010T>A (p.Leu337His) c.355-7T>A (n.355-7T>A) c.427-7T>A (n.427-7T>A) c.572T>A c.1094T>A (p.Leu365His) c.1049T>A (p.Leu350His) c.425-1434T>A c.827T>A (p.Leu276His) c.*904T>A (n.*904T>A) | |
| X | g.48904900G>A | CA412894526 | SLC35A2 | c.1009C>T (p.Leu337Phe) c.355-8C>T (n.355-8C>T) c.427-8C>T (n.427-8C>T) c.571C>T c.1093C>T (p.Leu365Phe) c.1048C>T (p.Leu350Phe) c.425-1435C>T c.826C>T (p.Leu276Phe) c.*903C>T (n.*903C>T) | |
| X | g.48904900G>C | CA412894527 | SLC35A2 | c.1009C>G (p.Leu337Val) c.355-8C>G (n.355-8C>G) c.427-8C>G (n.427-8C>G) c.571C>G c.1093C>G (p.Leu365Val) c.1048C>G (p.Leu350Val) c.425-1435C>G c.826C>G (p.Leu276Val) c.*903C>G (n.*903C>G) | |
| X | g.48904900G>T | CA412894528 | SLC35A2 | c.1009C>A (p.Leu337Ile) c.355-8C>A (n.355-8C>A) c.427-8C>A (n.427-8C>A) c.571C>A c.1093C>A (p.Leu365Ile) c.1048C>A (p.Leu350Ile) c.425-1435C>A c.826C>A (p.Leu276Ile) c.*903C>A (n.*903C>A) | |
| X | g.48904901G>A | CA516359970 | SLC35A2 | c.1008C>T (p.Tyr336=) c.355-9C>T (n.355-9C>T) c.427-9C>T (n.427-9C>T) c.570C>T c.1092C>T (p.Tyr364=) c.1047C>T (p.Tyr349=) c.425-1436C>T c.825C>T (p.Tyr275=) c.*902C>T (n.*902C>T) | gnomAD v4 |
| X | g.48904901G>C | CA412894529 | SLC35A2 | c.1008C>G (p.Tyr336Ter) c.355-9C>G (n.355-9C>G) c.427-9C>G (n.427-9C>G) c.570C>G c.1092C>G (p.Tyr364Ter) c.1047C>G (p.Tyr349Ter) c.425-1436C>G c.825C>G (p.Tyr275Ter) c.*902C>G (n.*902C>G) | |
| X | g.48904901G>T | CA412894530 | SLC35A2 | c.1008C>A (p.Tyr336Ter) c.355-9C>A (n.355-9C>A) c.427-9C>A (n.427-9C>A) c.570C>A c.1092C>A (p.Tyr364Ter) c.1047C>A (p.Tyr349Ter) c.425-1436C>A c.825C>A (p.Tyr275Ter) c.*902C>A (n.*902C>A) | |
| X | g.48904902T>A | CA412894531 | SLC35A2 | c.1007A>T (p.Tyr336Phe) c.355-10A>T (n.355-10A>T) c.427-10A>T (n.427-10A>T) c.569A>T c.1091A>T (p.Tyr364Phe) c.1046A>T (p.Tyr349Phe) c.425-1437A>T c.824A>T (p.Tyr275Phe) c.*901A>T (n.*901A>T) | |
| X | g.48904902T>C | CA412894532 | SLC35A2 | c.1007A>G (p.Tyr336Cys) c.355-10A>G (n.355-10A>G) c.427-10A>G (n.427-10A>G) c.569A>G c.1091A>G (p.Tyr364Cys) c.1046A>G (p.Tyr349Cys) c.425-1437A>G c.824A>G (p.Tyr275Cys) c.*901A>G (n.*901A>G) | gnomAD v4 |
| X | g.48904902T>G | CA412894533 | SLC35A2 | c.1007A>C (p.Tyr336Ser) c.355-10A>C (n.355-10A>C) c.427-10A>C (n.427-10A>C) c.569A>C c.1091A>C (p.Tyr364Ser) c.1046A>C (p.Tyr349Ser) c.425-1437A>C c.824A>C (p.Tyr275Ser) c.*901A>C (n.*901A>C) | |
| X | g.48904903A>C | CA412894534 | SLC35A2 | c.1006T>G (p.Tyr336Asp) c.355-11T>G (n.355-11T>G) c.427-11T>G (n.427-11T>G) c.568T>G c.1090T>G (p.Tyr364Asp) c.1045T>G (p.Tyr349Asp) c.425-1438T>G c.823T>G (p.Tyr275Asp) c.*900T>G (n.*900T>G) | |
| X | g.48904903A>G | CA412894535 | SLC35A2 | c.1006T>C (p.Tyr336His) c.355-11T>C (n.355-11T>C) c.427-11T>C (n.427-11T>C) c.568T>C c.1090T>C (p.Tyr364His) c.1045T>C (p.Tyr349His) c.425-1438T>C c.823T>C (p.Tyr275His) c.*900T>C (n.*900T>C) | |
| X | g.48904903A>T | CA412894536 | SLC35A2 | c.1006T>A (p.Tyr336Asn) c.355-11T>A (n.355-11T>A) c.427-11T>A (n.427-11T>A) c.568T>A c.1090T>A (p.Tyr364Asn) c.1045T>A (p.Tyr349Asn) c.425-1438T>A c.823T>A (p.Tyr275Asn) c.*900T>A (n.*900T>A) | |
| X | g.48904904G>A | CA516359972 | SLC35A2 | c.1005C>T (p.Val335=) c.355-12C>T (n.355-12C>T) c.427-12C>T (n.427-12C>T) c.567C>T c.1089C>T (p.Val363=) c.1044C>T (p.Val348=) c.425-1439C>T c.822C>T (p.Val274=) c.*899C>T (n.*899C>T) | |
| X | g.48904904G>C | CA516359973 | SLC35A2 | c.1005C>G (p.Val335=) c.355-12C>G (n.355-12C>G) c.427-12C>G (n.427-12C>G) c.567C>G c.1089C>G (p.Val363=) c.1044C>G (p.Val348=) c.425-1439C>G c.822C>G (p.Val274=) c.*899C>G (n.*899C>G) | |
| X | g.48904904G>T | CA516359974 | SLC35A2 | c.1005C>A (p.Val335=) c.355-12C>A (n.355-12C>A) c.427-12C>A (n.427-12C>A) c.567C>A c.1089C>A (p.Val363=) c.1044C>A (p.Val348=) c.425-1439C>A c.822C>A (p.Val274=) c.*899C>A (n.*899C>A) | |
| X | g.48904905A>C | CA412894537 | SLC35A2 | c.1004T>G (p.Val335Gly) c.355-13T>G (n.355-13T>G) c.427-13T>G (n.427-13T>G) c.566T>G c.1088T>G (p.Val363Gly) c.1043T>G (p.Val348Gly) c.425-1440T>G c.821T>G (p.Val274Gly) c.*898T>G (n.*898T>G) | |
| X | g.48904905A>G | CA412894538 | SLC35A2 | c.1004T>C (p.Val335Ala) c.355-13T>C (n.355-13T>C) c.427-13T>C (n.427-13T>C) c.566T>C c.1088T>C (p.Val363Ala) c.1043T>C (p.Val348Ala) c.425-1440T>C c.821T>C (p.Val274Ala) c.*898T>C (n.*898T>C) | |
| X | g.48904905A>T | CA412894539 | SLC35A2 | c.1004T>A (p.Val335Asp) c.355-13T>A (n.355-13T>A) c.427-13T>A (n.427-13T>A) c.566T>A c.1088T>A (p.Val363Asp) c.1043T>A (p.Val348Asp) c.425-1440T>A c.821T>A (p.Val274Asp) c.*898T>A (n.*898T>A) | COSMIC COSMIC |
| X | g.48904906C>A | CA412894540 | SLC35A2 | c.1003G>T (p.Val335Phe) c.355-14G>T (n.355-14G>T) c.427-14G>T (n.427-14G>T) c.565G>T c.1087G>T (p.Val363Phe) c.1042G>T (p.Val348Phe) c.425-1441G>T c.820G>T (p.Val274Phe) c.*897G>T (n.*897G>T) | |
| X | g.48904906C>G | CA412894541 | SLC35A2 | c.1003G>C (p.Val335Leu) c.355-14G>C (n.355-14G>C) c.427-14G>C (n.427-14G>C) c.565G>C c.1087G>C (p.Val363Leu) c.1042G>C (p.Val348Leu) c.425-1441G>C c.820G>C (p.Val274Leu) c.*897G>C (n.*897G>C) | |
| X | g.48904906C>T | CA412894542 | SLC35A2 | c.1003G>A (p.Val335Ile) c.355-14G>A (n.355-14G>A) c.427-14G>A (n.427-14G>A) c.565G>A c.1087G>A (p.Val363Ile) c.1042G>A (p.Val348Ile) c.425-1441G>A c.820G>A (p.Val274Ile) c.*897G>A (n.*897G>A) | |
| X | g.48904907A>C | CA516359975 | SLC35A2 | c.1002T>G (p.Ala334=) c.355-15T>G (n.355-15T>G) c.427-15T>G (n.427-15T>G) c.564T>G c.1086T>G (p.Ala362=) c.1041T>G (p.Ala347=) c.425-1442T>G c.819T>G (p.Ala273=) c.*896T>G (n.*896T>G) | |
| X | g.48904907A>G | CA516359976 | SLC35A2 | c.1002T>C (p.Ala334=) c.355-15T>C (n.355-15T>C) c.427-15T>C (n.427-15T>C) c.564T>C c.1086T>C (p.Ala362=) c.1041T>C (p.Ala347=) c.425-1442T>C c.819T>C (p.Ala273=) c.*896T>C (n.*896T>C) | |
| X | g.48904907A>T | CA516359978 | SLC35A2 | c.1002T>A (p.Ala334=) c.355-15T>A (n.355-15T>A) c.427-15T>A (n.427-15T>A) c.564T>A c.1086T>A (p.Ala362=) c.1041T>A (p.Ala347=) c.425-1442T>A c.819T>A (p.Ala273=) c.*896T>A (n.*896T>A) | |
| X | g.48904907_48904908dup | CA645604021 | SLC35A2 | c.1001_1002dup (p.Val335LeufsTer15) c.355-16_355-15dup (n.355-16_355-15dup) c.427-16_427-15dup (n.427-16_427-15dup) c.563_564dup c.1085_1086dup (p.Val363LeufsTer15) c.1040_1041dup (p.Val348LeufsTer15) c.425-1443_425-1442dup c.818_819dup (p.Val274LeufsTer15) c.*895_*896dup (n.*895_*896dup) | COSMIC COSMIC |
| X | g.48904908G>A | CA412894545 | SLC35A2 | c.1001C>T (p.Ala334Val) c.355-16C>T (n.355-16C>T) c.427-16C>T (n.427-16C>T) c.563C>T c.1085C>T (p.Ala362Val) c.1040C>T (p.Ala347Val) c.425-1443C>T c.818C>T (p.Ala273Val) c.*895C>T (n.*895C>T) | |
| X | g.48904908G>C | CA412894544 | SLC35A2 | c.1001C>G (p.Ala334Gly) c.355-16C>G (n.355-16C>G) c.427-16C>G (n.427-16C>G) c.563C>G c.1085C>G (p.Ala362Gly) c.1040C>G (p.Ala347Gly) c.425-1443C>G c.818C>G (p.Ala273Gly) c.*895C>G (n.*895C>G) | |
| X | g.48904908G>T | CA412894543 | SLC35A2 | c.1001C>A (p.Ala334Asp) c.355-16C>A (n.355-16C>A) c.427-16C>A (n.427-16C>A) c.563C>A c.1085C>A (p.Ala362Asp) c.1040C>A (p.Ala347Asp) c.425-1443C>A c.818C>A (p.Ala273Asp) c.*895C>A (n.*895C>A) | |
| X | g.48904909C>A | CA412894546 | SLC35A2 | c.1000G>T (p.Ala334Ser) c.355-17G>T (n.355-17G>T) c.427-17G>T (n.427-17G>T) c.562G>T c.1084G>T (p.Ala362Ser) c.1039G>T (p.Ala347Ser) c.425-1444G>T c.817G>T (p.Ala273Ser) c.*894G>T (n.*894G>T) | |
| X | g.48904909C>G | CA412894548 | SLC35A2 | c.1000G>C (p.Ala334Pro) c.355-17G>C (n.355-17G>C) c.427-17G>C (n.427-17G>C) c.562G>C c.1084G>C (p.Ala362Pro) c.1039G>C (p.Ala347Pro) c.425-1444G>C c.817G>C (p.Ala273Pro) c.*894G>C (n.*894G>C) | |
| X | g.48904909C>T | CA412894547 | SLC35A2 | c.1000G>A (p.Ala334Thr) c.355-17G>A (n.355-17G>A) c.427-17G>A (n.427-17G>A) c.562G>A c.1084G>A (p.Ala362Thr) c.1039G>A (p.Ala347Thr) c.425-1444G>A c.817G>A (p.Ala273Thr) c.*894G>A (n.*894G>A) | |
| X | g.48904910A>C | CA516359981 | SLC35A2 | c.999T>G (p.Gly333=) c.355-18T>G (n.355-18T>G) c.427-18T>G (n.427-18T>G) c.561T>G c.1083T>G (p.Gly361=) c.1038T>G (p.Gly346=) c.425-1445T>G c.816T>G (p.Gly272=) c.*893T>G (n.*893T>G) | |
| X | g.48904910A>G | CA516359982 | SLC35A2 | c.999T>C (p.Gly333=) c.355-18T>C (n.355-18T>C) c.427-18T>C (n.427-18T>C) c.561T>C c.1083T>C (p.Gly361=) c.1038T>C (p.Gly346=) c.425-1445T>C c.816T>C (p.Gly272=) c.*893T>C (n.*893T>C) | |
| X | g.48904910A>T | CA516359983 | SLC35A2 | c.999T>A (p.Gly333=) c.355-18T>A (n.355-18T>A) c.427-18T>A (n.427-18T>A) c.561T>A c.1083T>A (p.Gly361=) c.1038T>A (p.Gly346=) c.425-1445T>A c.816T>A (p.Gly272=) c.*893T>A (n.*893T>A) | |
| X | g.48904911C>A | CA412894549 | SLC35A2 | c.998G>T (p.Gly333Val) c.355-19G>T (n.355-19G>T) c.427-19G>T (n.427-19G>T) c.560G>T c.1082G>T (p.Gly361Val) c.1037G>T (p.Gly346Val) c.425-1446G>T c.815G>T (p.Gly272Val) c.*892G>T (n.*892G>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48904911C= | CA2428428818 | SLC35A2 | c.998G= (p.Gly333=) c.355-19G= (n.355-19G=) c.427-19G= (n.427-19G=) c.560G= c.1082G= (p.Gly361=) c.1037G= (p.Gly346=) c.425-1446G= c.815G= (p.Gly272=) c.*892G= (n.*892G=) | |
| X | g.48904911C>G | CA412894550 | SLC35A2 | c.998G>C (p.Gly333Ala) c.355-19G>C (n.355-19G>C) c.427-19G>C (n.427-19G>C) c.560G>C c.1082G>C (p.Gly361Ala) c.1037G>C (p.Gly346Ala) c.425-1446G>C c.815G>C (p.Gly272Ala) c.*892G>C (n.*892G>C) | |
| X | g.48904911C>T | CA412894551 | SLC35A2 | c.998G>A (p.Gly333Asp) c.355-19G>A (n.355-19G>A) c.427-19G>A (n.427-19G>A) c.560G>A c.1082G>A (p.Gly361Asp) c.1037G>A (p.Gly346Asp) c.425-1446G>A c.815G>A (p.Gly272Asp) c.*892G>A (n.*892G>A) | ClinVar |
| X | g.48904912C>A | CA412894552 | SLC35A2 | c.997G>T (p.Gly333Cys) c.355-20G>T (n.355-20G>T) c.427-20G>T (n.427-20G>T) c.559G>T c.1081G>T (p.Gly361Cys) c.1036G>T (p.Gly346Cys) c.425-1447G>T c.814G>T (p.Gly272Cys) c.*891G>T (n.*891G>T) | |
| X | g.48904912C>G | CA412894553 | SLC35A2 | c.997G>C (p.Gly333Arg) c.355-20G>C (n.355-20G>C) c.427-20G>C (n.427-20G>C) c.559G>C c.1081G>C (p.Gly361Arg) c.1036G>C (p.Gly346Arg) c.425-1447G>C c.814G>C (p.Gly272Arg) c.*891G>C (n.*891G>C) | |
| X | g.48904912C>T | CA412894554 | SLC35A2 | c.997G>A (p.Gly333Ser) c.355-20G>A (n.355-20G>A) c.427-20G>A (n.427-20G>A) c.559G>A c.1081G>A (p.Gly361Ser) c.1036G>A (p.Gly346Ser) c.425-1447G>A c.814G>A (p.Gly272Ser) c.*891G>A (n.*891G>A) | |
| X | g.48904913A>C | CA412894555 | SLC35A2 | c.996T>G (p.Ile332Met) c.355-21T>G (n.355-21T>G) c.427-21T>G (n.427-21T>G) c.558T>G c.1080T>G (p.Ile360Met) c.1035T>G (p.Ile345Met) c.425-1448T>G c.813T>G (p.Ile271Met) c.*890T>G (n.*890T>G) | |
| X | g.48904913A>G | CA516359836 | SLC35A2 | c.996T>C (p.Ile332=) c.355-21T>C (n.355-21T>C) c.427-21T>C (n.427-21T>C) c.558T>C c.1080T>C (p.Ile360=) c.1035T>C (p.Ile345=) c.425-1448T>C c.813T>C (p.Ile271=) c.*890T>C (n.*890T>C) | |
| X | g.48904913A>T | CA516359837 | SLC35A2 | c.996T>A (p.Ile332=) c.355-21T>A (n.355-21T>A) c.427-21T>A (n.427-21T>A) c.558T>A c.1080T>A (p.Ile360=) c.1035T>A (p.Ile345=) c.425-1448T>A c.813T>A (p.Ile271=) c.*890T>A (n.*890T>A) | |
| X | g.48904914A>C | CA412894556 | SLC35A2 | c.995T>G (p.Ile332Ser) c.355-22T>G (n.355-22T>G) c.427-22T>G (n.427-22T>G) c.557T>G c.1079T>G (p.Ile360Ser) c.1034T>G (p.Ile345Ser) c.425-1449T>G c.812T>G (p.Ile271Ser) c.*889T>G (n.*889T>G) | |
| X | g.48904914A>G | CA412894557 | SLC35A2 | c.995T>C (p.Ile332Thr) c.355-22T>C (n.355-22T>C) c.427-22T>C (n.427-22T>C) c.557T>C c.1079T>C (p.Ile360Thr) c.1034T>C (p.Ile345Thr) c.425-1449T>C c.812T>C (p.Ile271Thr) c.*889T>C (n.*889T>C) | dbSNP |
| X | g.48904914A>T | CA412894558 | SLC35A2 | c.995T>A (p.Ile332Asn) c.355-22T>A (n.355-22T>A) c.427-22T>A (n.427-22T>A) c.557T>A c.1079T>A (p.Ile360Asn) c.1034T>A (p.Ile345Asn) c.425-1449T>A c.812T>A (p.Ile271Asn) c.*889T>A (n.*889T>A) | |
| X | g.48904915T>A | CA412894559 | SLC35A2 | c.994A>T (p.Ile332Phe) c.355-23A>T (n.355-23A>T) c.427-23A>T (n.427-23A>T) c.556A>T c.1078A>T (p.Ile360Phe) c.1033A>T (p.Ile345Phe) c.425-1450A>T c.811A>T (p.Ile271Phe) c.*888A>T (n.*888A>T) | COSMIC |
| X | g.48904915T>C | CA412894560 | SLC35A2 | c.994A>G (p.Ile332Val) c.355-23A>G (n.355-23A>G) c.427-23A>G (n.427-23A>G) c.556A>G c.1078A>G (p.Ile360Val) c.1033A>G (p.Ile345Val) c.425-1450A>G c.811A>G (p.Ile271Val) c.*888A>G (n.*888A>G) | |
| X | g.48904915T>G | CA412894561 | SLC35A2 | c.994A>C (p.Ile332Leu) c.355-23A>C (n.355-23A>C) c.427-23A>C (n.427-23A>C) c.556A>C c.1078A>C (p.Ile360Leu) c.1033A>C (p.Ile345Leu) c.425-1450A>C c.811A>C (p.Ile271Leu) c.*888A>C (n.*888A>C) | |
| X | g.48904915_48904918delinsTGAC | CA2428428819 | SLC35A2 | c.991_994delinsGTCA (p.Val331=) c.355-26_355-23delinsGTCA (n.355-26_355-23delinsGTCA) c.427-26_427-23delinsGTCA (n.427-26_427-23delinsGTCA) c.553_556delinsGTCA c.1075_1078delinsGTCA (p.Val359=) c.1030_1033delinsGTCA (p.Val344=) c.425-1453_425-1450delinsGTCA c.808_811delinsGTCA (p.Val270=) c.*885_*888delinsGTCA (n.*885_*888delinsGTCA) | |
| X | g.48904916G>A | CA516359838 | SLC35A2 | c.993C>T (p.Val331=) c.355-24C>T (n.355-24C>T) c.427-24C>T (n.427-24C>T) c.555C>T c.1077C>T (p.Val359=) c.1032C>T (p.Val344=) c.425-1451C>T c.810C>T (p.Val270=) c.*887C>T (n.*887C>T) | |
| X | g.48904916G>C | CA516359839 | SLC35A2 | c.993C>G (p.Val331=) c.355-24C>G (n.355-24C>G) c.427-24C>G (n.427-24C>G) c.555C>G c.1077C>G (p.Val359=) c.1032C>G (p.Val344=) c.425-1451C>G c.810C>G (p.Val270=) c.*887C>G (n.*887C>G) | |
| X | g.48904916G>T | CA516359840 | SLC35A2 | c.993C>A (p.Val331=) c.355-24C>A (n.355-24C>A) c.427-24C>A (n.427-24C>A) c.555C>A c.1077C>A (p.Val359=) c.1032C>A (p.Val344=) c.425-1451C>A c.810C>A (p.Val270=) c.*887C>A (n.*887C>A) | |
| X | g.48904918_48904920del | CA2428428820 | SLC35A2 | c.991_993del (p.Val331del) c.355-26_355-24del (n.355-26_355-24del) c.427-26_427-24del (n.427-26_427-24del) c.553_555del c.1075_1077del (p.Val359del) c.1030_1032del (p.Val344del) c.425-1453_425-1451del c.808_810del (p.Val270del) c.*885_*887del (n.*885_*887del) | ClinVar dbSNP |
| X | g.48904917A>C | CA412894564 | SLC35A2 | c.992T>G (p.Val331Gly) c.355-25T>G (n.355-25T>G) c.427-25T>G (n.427-25T>G) c.554T>G c.1076T>G (p.Val359Gly) c.1031T>G (p.Val344Gly) c.425-1452T>G c.809T>G (p.Val270Gly) c.*886T>G (n.*886T>G) | |
| X | g.48904917A>G | CA412894563 | SLC35A2 | c.992T>C (p.Val331Ala) c.355-25T>C (n.355-25T>C) c.427-25T>C (n.427-25T>C) c.554T>C c.1076T>C (p.Val359Ala) c.1031T>C (p.Val344Ala) c.425-1452T>C c.809T>C (p.Val270Ala) c.*886T>C (n.*886T>C) | |
| X | g.48904917A>T | CA412894562 | SLC35A2 | c.992T>A (p.Val331Asp) c.355-25T>A (n.355-25T>A) c.427-25T>A (n.427-25T>A) c.554T>A c.1076T>A (p.Val359Asp) c.1031T>A (p.Val344Asp) c.425-1452T>A c.809T>A (p.Val270Asp) c.*886T>A (n.*886T>A) | |
| X | g.48904918C>A | CA412894565 | SLC35A2 | c.991G>T (p.Val331Phe) c.355-26G>T (n.355-26G>T) c.427-26G>T (n.427-26G>T) c.553G>T c.1075G>T (p.Val359Phe) c.1030G>T (p.Val344Phe) c.425-1453G>T c.808G>T (p.Val270Phe) c.*885G>T (n.*885G>T) | |
| X | g.48904918C= | CA2428428821 | SLC35A2 | c.991G= (p.Val331=) c.355-26G= (n.355-26G=) c.427-26G= (n.427-26G=) c.553G= c.1075G= (p.Val359=) c.1030G= (p.Val344=) c.425-1453G= c.808G= (p.Val270=) c.*885G= (n.*885G=) | |
| X | g.48904918C>G | CA412894566 | SLC35A2 | c.991G>C (p.Val331Leu) c.355-26G>C (n.355-26G>C) c.427-26G>C (n.427-26G>C) c.553G>C c.1075G>C (p.Val359Leu) c.1030G>C (p.Val344Leu) c.425-1453G>C c.808G>C (p.Val270Leu) c.*885G>C (n.*885G>C) | |
| X | g.48904918C>T | CA143742 | SLC35A2 | c.991G>A (p.Val331Ile) c.355-26G>A (n.355-26G>A) c.427-26G>A (n.427-26G>A) c.553G>A c.1075G>A (p.Val359Ile) c.1030G>A (p.Val344Ile) c.425-1453G>A c.808G>A (p.Val270Ile) c.*885G>A (n.*885G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.48904919G>A | CA10406076 | SLC35A2 | c.990C>T (p.Leu330=) c.355-27C>T (n.355-27C>T) c.427-27C>T (n.427-27C>T) c.552C>T c.1074C>T (p.Leu358=) c.1029C>T (p.Leu343=) c.425-1454C>T c.807C>T (p.Leu269=) c.*884C>T (n.*884C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.48904919G>C | CA516359842 | SLC35A2 | c.990C>G (p.Leu330=) c.355-27C>G (n.355-27C>G) c.427-27C>G (n.427-27C>G) c.552C>G c.1074C>G (p.Leu358=) c.1029C>G (p.Leu343=) c.425-1454C>G c.807C>G (p.Leu269=) c.*884C>G (n.*884C>G) | |
| X | g.48904919G= | CA2428428822 | SLC35A2 | c.990C= (p.Leu330=) c.355-27C= (n.355-27C=) c.427-27C= (n.427-27C=) c.552C= c.1074C= (p.Leu358=) c.1029C= (p.Leu343=) c.425-1454C= c.807C= (p.Leu269=) c.*884C= (n.*884C=) | |
| X | g.48904919G>T | CA516359841 | SLC35A2 | c.990C>A (p.Leu330=) c.355-27C>A (n.355-27C>A) c.427-27C>A (n.427-27C>A) c.552C>A c.1074C>A (p.Leu358=) c.1029C>A (p.Leu343=) c.425-1454C>A c.807C>A (p.Leu269=) c.*884C>A (n.*884C>A) | |
| X | g.48904920A= | CA2428428823 | SLC35A2 | c.989T= (p.Leu330=) c.355-28T= (n.355-28T=) c.427-28T= (n.427-28T=) c.551T= c.1073T= (p.Leu358=) c.1028T= (p.Leu343=) c.425-1455T= c.806T= (p.Leu269=) c.*883T= (n.*883T=) | |
| X | g.48904920A>C | CA412894567 | SLC35A2 | c.989T>G (p.Leu330Arg) c.355-28T>G (n.355-28T>G) c.427-28T>G (n.427-28T>G) c.551T>G c.1073T>G (p.Leu358Arg) c.1028T>G (p.Leu343Arg) c.425-1455T>G c.806T>G (p.Leu269Arg) c.*883T>G (n.*883T>G) | |
| X | g.48904920A>G | CA412894568 | SLC35A2 | c.989T>C (p.Leu330Pro) c.355-28T>C (n.355-28T>C) c.427-28T>C (n.427-28T>C) c.551T>C c.1073T>C (p.Leu358Pro) c.1028T>C (p.Leu343Pro) c.425-1455T>C c.806T>C (p.Leu269Pro) c.*883T>C (n.*883T>C) | ClinVar dbSNP |
| X | g.48904920A>T | CA412894569 | SLC35A2 | c.989T>A (p.Leu330His) c.355-28T>A (n.355-28T>A) c.427-28T>A (n.427-28T>A) c.551T>A c.1073T>A (p.Leu358His) c.1028T>A (p.Leu343His) c.425-1455T>A c.806T>A (p.Leu269His) c.*883T>A (n.*883T>A) | gnomAD v4 |
| X | g.48904921G>A | CA412894570 | SLC35A2 | c.988C>T (p.Leu330Phe) c.355-29C>T (n.355-29C>T) c.427-29C>T (n.427-29C>T) c.550C>T c.1072C>T (p.Leu358Phe) c.1027C>T (p.Leu343Phe) c.425-1456C>T c.805C>T (p.Leu269Phe) c.*882C>T (n.*882C>T) | |
| X | g.48904921G>C | CA412894571 | SLC35A2 | c.988C>G (p.Leu330Val) c.355-29C>G (n.355-29C>G) c.427-29C>G (n.427-29C>G) c.550C>G c.1072C>G (p.Leu358Val) c.1027C>G (p.Leu343Val) c.425-1456C>G c.805C>G (p.Leu269Val) c.*882C>G (n.*882C>G) | |
| X | g.48904921G>T | CA412894572 | SLC35A2 | c.988C>A (p.Leu330Ile) c.355-29C>A (n.355-29C>A) c.427-29C>A (n.427-29C>A) c.550C>A c.1072C>A (p.Leu358Ile) c.1027C>A (p.Leu343Ile) c.425-1456C>A c.805C>A (p.Leu269Ile) c.*882C>A (n.*882C>A) | |
| X | g.48904922T>A | CA516359845 | SLC35A2 | c.987A>T (p.Gly329=) c.355-30A>T (n.355-30A>T) c.427-30A>T (n.427-30A>T) c.549A>T c.1071A>T (p.Gly357=) c.1026A>T (p.Gly342=) c.425-1457A>T c.804A>T (p.Gly268=) c.*881A>T (n.*881A>T) | |
| X | g.48904922T>C | CA516359844 | SLC35A2 | c.987A>G (p.Gly329=) c.355-30A>G (n.355-30A>G) c.427-30A>G (n.427-30A>G) c.549A>G c.1071A>G (p.Gly357=) c.1026A>G (p.Gly342=) c.425-1457A>G c.804A>G (p.Gly268=) c.*881A>G (n.*881A>G) | |
| X | g.48904922T>G | CA516359843 | SLC35A2 | c.987A>C (p.Gly329=) c.355-30A>C (n.355-30A>C) c.427-30A>C (n.427-30A>C) c.549A>C c.1071A>C (p.Gly357=) c.1026A>C (p.Gly342=) c.425-1457A>C c.804A>C (p.Gly268=) c.*881A>C (n.*881A>C) | |
| X | g.48904923C>A | CA412894573 | SLC35A2 | c.986G>T (p.Gly329Val) c.355-31G>T (n.355-31G>T) c.427-31G>T (n.427-31G>T) c.548G>T c.1070G>T (p.Gly357Val) c.1025G>T (p.Gly342Val) c.425-1458G>T c.803G>T (p.Gly268Val) c.*880G>T (n.*880G>T) | |
| X | g.48904923C>G | CA412894574 | SLC35A2 | c.986G>C (p.Gly329Ala) c.355-31G>C (n.355-31G>C) c.427-31G>C (n.427-31G>C) c.548G>C c.1070G>C (p.Gly357Ala) c.1025G>C (p.Gly342Ala) c.425-1458G>C c.803G>C (p.Gly268Ala) c.*880G>C (n.*880G>C) | |
| X | g.48904923C>T | CA412894575 | SLC35A2 | c.986G>A (p.Gly329Glu) c.355-31G>A (n.355-31G>A) c.427-31G>A (n.427-31G>A) c.548G>A c.1070G>A (p.Gly357Glu) c.1025G>A (p.Gly342Glu) c.425-1458G>A c.803G>A (p.Gly268Glu) c.*880G>A (n.*880G>A) | |
| X | g.48904924C>A | CA412894577 | SLC35A2 | c.985G>T (p.Gly329Ter) c.355-32G>T (n.355-32G>T) c.427-32G>T (n.427-32G>T) c.547G>T c.1069G>T (p.Gly357Ter) c.1024G>T (p.Gly342Ter) c.425-1459G>T c.802G>T (p.Gly268Ter) c.*879G>T (n.*879G>T) | |
| X | g.48904924C>G | CA412894578 | SLC35A2 | c.985G>C (p.Gly329Arg) c.355-32G>C (n.355-32G>C) c.427-32G>C (n.427-32G>C) c.547G>C c.1069G>C (p.Gly357Arg) c.1024G>C (p.Gly342Arg) c.425-1459G>C c.802G>C (p.Gly268Arg) c.*879G>C (n.*879G>C) | |
| X | g.48904924C>T | CA412894576 | SLC35A2 | c.985G>A (p.Gly329Arg) c.355-32G>A (n.355-32G>A) c.427-32G>A (n.427-32G>A) c.547G>A c.1069G>A (p.Gly357Arg) c.1024G>A (p.Gly342Arg) c.425-1459G>A c.802G>A (p.Gly268Arg) c.*879G>A (n.*879G>A) | |
| X | g.48904925A>C | CA516359846 | SLC35A2 | c.984T>G (p.Ala328=) c.355-33T>G (n.355-33T>G) c.427-33T>G (n.427-33T>G) c.546T>G c.1068T>G (p.Ala356=) c.1023T>G (p.Ala341=) c.425-1460T>G c.801T>G (p.Ala267=) c.*878T>G (n.*878T>G) | |
| X | g.48904925A>G | CA516359848 | SLC35A2 | c.984T>C (p.Ala328=) c.355-33T>C (n.355-33T>C) c.427-33T>C (n.427-33T>C) c.546T>C c.1068T>C (p.Ala356=) c.1023T>C (p.Ala341=) c.425-1460T>C c.801T>C (p.Ala267=) c.*878T>C (n.*878T>C) | |
| X | g.48904925A>T | CA516359847 | SLC35A2 | c.984T>A (p.Ala328=) c.355-33T>A (n.355-33T>A) c.427-33T>A (n.427-33T>A) c.546T>A c.1068T>A (p.Ala356=) c.1023T>A (p.Ala341=) c.425-1460T>A c.801T>A (p.Ala267=) c.*878T>A (n.*878T>A) | |
| X | g.48904926G>A | CA412894579 | SLC35A2 | c.983C>T (p.Ala328Val) c.355-34C>T (n.355-34C>T) c.427-34C>T (n.427-34C>T) c.545C>T c.1067C>T (p.Ala356Val) c.1022C>T (p.Ala341Val) c.425-1461C>T c.800C>T (p.Ala267Val) c.*877C>T (n.*877C>T) | gnomAD v4 |
| X | g.48904926G>C | CA412894580 | SLC35A2 | c.983C>G (p.Ala328Gly) c.355-34C>G (n.355-34C>G) c.427-34C>G (n.427-34C>G) c.545C>G c.1067C>G (p.Ala356Gly) c.1022C>G (p.Ala341Gly) c.425-1461C>G c.800C>G (p.Ala267Gly) c.*877C>G (n.*877C>G) | |
| X | g.48904926G>T | CA412894581 | SLC35A2 | c.983C>A (p.Ala328Asp) c.355-34C>A (n.355-34C>A) c.427-34C>A (n.427-34C>A) c.545C>A c.1067C>A (p.Ala356Asp) c.1022C>A (p.Ala341Asp) c.425-1461C>A c.800C>A (p.Ala267Asp) c.*877C>A (n.*877C>A) | |
| X | g.48904927C>A | CA412894582 | SLC35A2 | c.982G>T (p.Ala328Ser) c.355-35G>T (n.355-35G>T) c.427-35G>T (n.427-35G>T) c.544G>T c.1066G>T (p.Ala356Ser) c.1021G>T (p.Ala341Ser) c.425-1462G>T c.799G>T (p.Ala267Ser) c.*876G>T (n.*876G>T) | |
| X | g.48904927C= | CA2428428824 | SLC35A2 | c.982G= (p.Ala328=) c.355-35G= (n.355-35G=) c.427-35G= (n.427-35G=) c.544G= c.1066G= (p.Ala356=) c.1021G= (p.Ala341=) c.425-1462G= c.799G= (p.Ala267=) c.*876G= (n.*876G=) | |
| X | g.48904927C>G | CA412894583 | SLC35A2 | c.982G>C (p.Ala328Pro) c.355-35G>C (n.355-35G>C) c.427-35G>C (n.427-35G>C) c.544G>C c.1066G>C (p.Ala356Pro) c.1021G>C (p.Ala341Pro) c.425-1462G>C c.799G>C (p.Ala267Pro) c.*876G>C (n.*876G>C) | |
| X | g.48904927C>T | CA10406077 | SLC35A2 | c.982G>A (p.Ala328Thr) c.355-35G>A (n.355-35G>A) c.427-35G>A (n.427-35G>A) c.544G>A c.1066G>A (p.Ala356Thr) c.1021G>A (p.Ala341Thr) c.425-1462G>A c.799G>A (p.Ala267Thr) c.*876G>A (n.*876G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.48904928G>A | CA10406078 | SLC35A2 | c.981C>T (p.Gly327=) c.355-36C>T (n.355-36C>T) c.427-36C>T (n.427-36C>T) c.543C>T c.1065C>T (p.Gly355=) c.1020C>T (p.Gly340=) c.425-1463C>T c.798C>T (p.Gly266=) c.*875C>T (n.*875C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48904928G>C | CA516359849 | SLC35A2 | c.981C>G (p.Gly327=) c.355-36C>G (n.355-36C>G) c.427-36C>G (n.427-36C>G) c.543C>G c.1065C>G (p.Gly355=) c.1020C>G (p.Gly340=) c.425-1463C>G c.798C>G (p.Gly266=) c.*875C>G (n.*875C>G) | |
| X | g.48904928G= | CA2428428825 | SLC35A2 | c.981C= (p.Gly327=) c.355-36C= (n.355-36C=) c.427-36C= (n.427-36C=) c.543C= c.1065C= (p.Gly355=) c.1020C= (p.Gly340=) c.425-1463C= c.798C= (p.Gly266=) c.*875C= (n.*875C=) | |
| X | g.48904928G>T | CA516359850 | SLC35A2 | c.981C>A (p.Gly327=) c.355-36C>A (n.355-36C>A) c.427-36C>A (n.427-36C>A) c.543C>A c.1065C>A (p.Gly355=) c.1020C>A (p.Gly340=) c.425-1463C>A c.798C>A (p.Gly266=) c.*875C>A (n.*875C>A) | |
| X | g.48904929C>A | CA412894584 | SLC35A2 | c.980G>T (p.Gly327Val) c.355-37G>T (n.355-37G>T) c.427-37G>T (n.427-37G>T) c.542G>T c.1064G>T (p.Gly355Val) c.1019G>T (p.Gly340Val) c.425-1464G>T c.797G>T (p.Gly266Val) c.*874G>T (n.*874G>T) | |
| X | g.48904929C>G | CA412894585 | SLC35A2 | c.980G>C (p.Gly327Ala) c.355-37G>C (n.355-37G>C) c.427-37G>C (n.427-37G>C) c.542G>C c.1064G>C (p.Gly355Ala) c.1019G>C (p.Gly340Ala) c.425-1464G>C c.797G>C (p.Gly266Ala) c.*874G>C (n.*874G>C) | |
| X | g.48904929C>T | CA412894586 | SLC35A2 | c.980G>A (p.Gly327Asp) c.355-37G>A (n.355-37G>A) c.427-37G>A (n.427-37G>A) c.542G>A c.1064G>A (p.Gly355Asp) c.1019G>A (p.Gly340Asp) c.425-1464G>A c.797G>A (p.Gly266Asp) c.*874G>A (n.*874G>A) | |
| X | g.48904930C>A | CA412894587 | SLC35A2 | c.979G>T (p.Gly327Cys) c.355-38G>T (n.355-38G>T) c.427-38G>T (n.427-38G>T) c.541G>T c.1063G>T (p.Gly355Cys) c.1018G>T (p.Gly340Cys) c.424+1462G>T c.796G>T (p.Gly266Cys) c.*873G>T (n.*873G>T) | |
| X | g.48904930C>G | CA412894588 | SLC35A2 | c.979G>C (p.Gly327Arg) c.355-38G>C (n.355-38G>C) c.427-38G>C (n.427-38G>C) c.541G>C c.1063G>C (p.Gly355Arg) c.1018G>C (p.Gly340Arg) c.424+1462G>C c.796G>C (p.Gly266Arg) c.*873G>C (n.*873G>C) | |
| X | g.48904930C>T | CA412894589 | SLC35A2 | c.979G>A (p.Gly327Ser) c.355-38G>A (n.355-38G>A) c.427-38G>A (n.427-38G>A) c.541G>A c.1063G>A (p.Gly355Ser) c.1018G>A (p.Gly340Ser) c.424+1462G>A c.796G>A (p.Gly266Ser) c.*873G>A (n.*873G>A) | gnomAD v4 |
| X | g.48904931A= | CA2428428826 | SLC35A2 | c.978T= (p.Leu326=) c.355-39T= (n.355-39T=) c.427-39T= (n.427-39T=) c.540T= c.1062T= (p.Leu354=) c.1017T= (p.Leu339=) c.424+1461T= c.795T= (p.Leu265=) c.*872T= (n.*872T=) | |
| X | g.48904931A>C | CA516359851 | SLC35A2 | c.978T>G (p.Leu326=) c.355-39T>G (n.355-39T>G) c.427-39T>G (n.427-39T>G) c.540T>G c.1062T>G (p.Leu354=) c.1017T>G (p.Leu339=) c.424+1461T>G c.795T>G (p.Leu265=) c.*872T>G (n.*872T>G) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48904931A>G | CA516359852 | SLC35A2 | c.978T>C (p.Leu326=) c.355-39T>C (n.355-39T>C) c.427-39T>C (n.427-39T>C) c.540T>C c.1062T>C (p.Leu354=) c.1017T>C (p.Leu339=) c.424+1461T>C c.795T>C (p.Leu265=) c.*872T>C (n.*872T>C) | |
| X | g.48904931A>T | CA516359853 | SLC35A2 | c.978T>A (p.Leu326=) c.355-39T>A (n.355-39T>A) c.427-39T>A (n.427-39T>A) c.540T>A c.1062T>A (p.Leu354=) c.1017T>A (p.Leu339=) c.424+1461T>A c.795T>A (p.Leu265=) c.*872T>A (n.*872T>A) | |
| X | g.48904932A>C | CA412894590 | SLC35A2 | c.977T>G (p.Leu326Arg) c.355-40T>G (n.355-40T>G) c.427-40T>G (n.427-40T>G) c.539T>G c.1061T>G (p.Leu354Arg) c.1016T>G (p.Leu339Arg) c.424+1460T>G c.794T>G (p.Leu265Arg) c.*871T>G (n.*871T>G) | |
| X | g.48904932A>G | CA412894592 | SLC35A2 | c.977T>C (p.Leu326Pro) c.355-40T>C (n.355-40T>C) c.427-40T>C (n.427-40T>C) c.539T>C c.1061T>C (p.Leu354Pro) c.1016T>C (p.Leu339Pro) c.424+1460T>C c.794T>C (p.Leu265Pro) c.*871T>C (n.*871T>C) | |
| X | g.48904932A>T | CA412894591 | SLC35A2 | c.977T>A (p.Leu326His) c.355-40T>A (n.355-40T>A) c.427-40T>A (n.427-40T>A) c.539T>A c.1061T>A (p.Leu354His) c.1016T>A (p.Leu339His) c.424+1460T>A c.794T>A (p.Leu265His) c.*871T>A (n.*871T>A) | |
| X | g.48904933G>A | CA412894593 | SLC35A2 | c.976C>T (p.Leu326Phe) c.355-41C>T (n.355-41C>T) c.427-41C>T (n.427-41C>T) c.538C>T c.1060C>T (p.Leu354Phe) c.1015C>T (p.Leu339Phe) c.424+1459C>T c.793C>T (p.Leu265Phe) c.*870C>T (n.*870C>T) | gnomAD v4 |
| X | g.48904933G>C | CA412894594 | SLC35A2 | c.976C>G (p.Leu326Val) c.355-41C>G (n.355-41C>G) c.427-41C>G (n.427-41C>G) c.538C>G c.1060C>G (p.Leu354Val) c.1015C>G (p.Leu339Val) c.424+1459C>G c.793C>G (p.Leu265Val) c.*870C>G (n.*870C>G) | |
| X | g.48904933G>T | CA412894595 | SLC35A2 | c.976C>A (p.Leu326Ile) c.355-41C>A (n.355-41C>A) c.427-41C>A (n.427-41C>A) c.538C>A c.1060C>A (p.Leu354Ile) c.1015C>A (p.Leu339Ile) c.424+1459C>A c.793C>A (p.Leu265Ile) c.*870C>A (n.*870C>A) | gnomAD v4 |
| X | g.48904934G>A | CA516359854 | SLC35A2 | c.975C>T (p.Ala325=) c.355-42C>T (n.355-42C>T) c.427-42C>T (n.427-42C>T) c.537C>T c.1059C>T (p.Ala353=) c.1014C>T (p.Ala338=) c.424+1458C>T c.792C>T (p.Ala264=) c.*869C>T (n.*869C>T) | COSMIC |
| X | g.48904934G>C | CA516359855 | SLC35A2 | c.975C>G (p.Ala325=) c.355-42C>G (n.355-42C>G) c.427-42C>G (n.427-42C>G) c.537C>G c.1059C>G (p.Ala353=) c.1014C>G (p.Ala338=) c.424+1458C>G c.792C>G (p.Ala264=) c.*869C>G (n.*869C>G) | |
| X | g.48904934G>T | CA516359856 | SLC35A2 | c.975C>A (p.Ala325=) c.355-42C>A (n.355-42C>A) c.427-42C>A (n.427-42C>A) c.537C>A c.1059C>A (p.Ala353=) c.1014C>A (p.Ala338=) c.424+1458C>A c.792C>A (p.Ala264=) c.*869C>A (n.*869C>A) | |
| X | g.48904935G>A | CA412894596 | SLC35A2 | c.974C>T (p.Ala325Val) c.355-43C>T (n.355-43C>T) c.427-43C>T (n.427-43C>T) c.536C>T c.1058C>T (p.Ala353Val) c.1013C>T (p.Ala338Val) c.424+1457C>T c.791C>T (p.Ala264Val) c.*868C>T (n.*868C>T) | gnomAD v4 |
| X | g.48904935G>C | CA412894597 | SLC35A2 | c.974C>G (p.Ala325Gly) c.355-43C>G (n.355-43C>G) c.427-43C>G (n.427-43C>G) c.536C>G c.1058C>G (p.Ala353Gly) c.1013C>G (p.Ala338Gly) c.424+1457C>G c.791C>G (p.Ala264Gly) c.*868C>G (n.*868C>G) | |
| X | g.48904935G>T | CA412894598 | SLC35A2 | c.974C>A (p.Ala325Asp) c.355-43C>A (n.355-43C>A) c.427-43C>A (n.427-43C>A) c.536C>A c.1058C>A (p.Ala353Asp) c.1013C>A (p.Ala338Asp) c.424+1457C>A c.791C>A (p.Ala264Asp) c.*868C>A (n.*868C>A) | |
| X | g.48904936C>A | CA412894599 | SLC35A2 | c.973G>T (p.Ala325Ser) c.355-44G>T (n.355-44G>T) c.427-44G>T (n.427-44G>T) c.535G>T c.1057G>T (p.Ala353Ser) c.1012G>T (p.Ala338Ser) c.424+1456G>T c.790G>T (p.Ala264Ser) c.*867G>T (n.*867G>T) | |
| X | g.48904936C>G | CA412894600 | SLC35A2 | c.973G>C (p.Ala325Pro) c.355-44G>C (n.355-44G>C) c.427-44G>C (n.427-44G>C) c.535G>C c.1057G>C (p.Ala353Pro) c.1012G>C (p.Ala338Pro) c.424+1456G>C c.790G>C (p.Ala264Pro) c.*867G>C (n.*867G>C) | |
| X | g.48904936C>T | CA412894601 | SLC35A2 | c.973G>A (p.Ala325Thr) c.355-44G>A (n.355-44G>A) c.427-44G>A (n.427-44G>A) c.535G>A c.1057G>A (p.Ala353Thr) c.1012G>A (p.Ala338Thr) c.424+1456G>A c.790G>A (p.Ala264Thr) c.*867G>A (n.*867G>A) | |
| X | g.48904936_48904937delinsCA | CA2428428827 | SLC35A2 | c.972_973delinsTG (p.Phe324=) c.355-45_355-44delinsTG (n.355-45_355-44delinsTG) c.427-45_427-44delinsTG (n.427-45_427-44delinsTG) c.534_535delinsTG c.1056_1057delinsTG (p.Phe352=) c.1011_1012delinsTG (p.Phe337=) c.424+1455_424+1456delinsTG c.789_790delinsTG (p.Phe263=) c.*866_*867delinsTG (n.*866_*867delinsTG) | |
| X | g.48904937A>C | CA412894603 | SLC35A2 | c.972T>G (p.Phe324Leu) c.355-45T>G (n.355-45T>G) c.427-45T>G (n.427-45T>G) c.534T>G c.1056T>G (p.Phe352Leu) c.1011T>G (p.Phe337Leu) c.424+1455T>G c.789T>G (p.Phe263Leu) c.*866T>G (n.*866T>G) | |
| X | g.48904937A>G | CA516359857 | SLC35A2 | c.972T>C (p.Phe324=) c.355-45T>C (n.355-45T>C) c.427-45T>C (n.427-45T>C) c.534T>C c.1056T>C (p.Phe352=) c.1011T>C (p.Phe337=) c.424+1455T>C c.789T>C (p.Phe263=) c.*866T>C (n.*866T>C) | |
| X | g.48904937A>T | CA412894602 | SLC35A2 | c.972T>A (p.Phe324Leu) c.355-45T>A (n.355-45T>A) c.427-45T>A (n.427-45T>A) c.534T>A c.1056T>A (p.Phe352Leu) c.1011T>A (p.Phe337Leu) c.424+1455T>A c.789T>A (p.Phe263Leu) c.*866T>A (n.*866T>A) | |
| X | g.48904939del | CA163126 | SLC35A2 | c.972del (p.Phe324LeufsTer25) c.355-45del (n.355-45del) c.427-45del (n.427-45del) c.534del c.1056del (p.Phe352LeufsTer25) c.1011del (p.Phe337LeufsTer25) c.424+1455del c.789del (p.Phe263LeufsTer25) c.*866del (n.*866del) | ClinVar dbSNP |
| X | g.48904938A>C | CA412894604 | SLC35A2 | c.971T>G (p.Phe324Cys) c.355-46T>G (n.355-46T>G) c.427-46T>G (n.427-46T>G) c.533T>G c.1055T>G (p.Phe352Cys) c.1010T>G (p.Phe337Cys) c.424+1454T>G c.788T>G (p.Phe263Cys) c.*865T>G (n.*865T>G) | |
| X | g.48904938A>G | CA412894606 | SLC35A2 | c.971T>C (p.Phe324Ser) c.355-46T>C (n.355-46T>C) c.427-46T>C (n.427-46T>C) c.533T>C c.1055T>C (p.Phe352Ser) c.1010T>C (p.Phe337Ser) c.424+1454T>C c.788T>C (p.Phe263Ser) c.*865T>C (n.*865T>C) | |
| X | g.48904938A>T | CA412894605 | SLC35A2 | c.971T>A (p.Phe324Tyr) c.355-46T>A (n.355-46T>A) c.427-46T>A (n.427-46T>A) c.533T>A c.1055T>A (p.Phe352Tyr) c.1010T>A (p.Phe337Tyr) c.424+1454T>A c.788T>A (p.Phe263Tyr) c.*865T>A (n.*865T>A) | |
| X | g.48904939A>C | CA412894608 | SLC35A2 | c.970T>G (p.Phe324Val) c.355-47T>G (n.355-47T>G) c.427-47T>G (n.427-47T>G) c.532T>G c.1054T>G (p.Phe352Val) c.1009T>G (p.Phe337Val) c.424+1453T>G c.787T>G (p.Phe263Val) c.*864T>G (n.*864T>G) | |
| X | g.48904939A>G | CA412894609 | SLC35A2 | c.970T>C (p.Phe324Leu) c.355-47T>C (n.355-47T>C) c.427-47T>C (n.427-47T>C) c.532T>C c.1054T>C (p.Phe352Leu) c.1009T>C (p.Phe337Leu) c.424+1453T>C c.787T>C (p.Phe263Leu) c.*864T>C (n.*864T>C) | |
| X | g.48904939A>T | CA412894610 | SLC35A2 | c.970T>A (p.Phe324Ile) c.355-47T>A (n.355-47T>A) c.427-47T>A (n.427-47T>A) c.532T>A c.1054T>A (p.Phe352Ile) c.1009T>A (p.Phe337Ile) c.424+1453T>A c.787T>A (p.Phe263Ile) c.*864T>A (n.*864T>A) | |
| X | g.48904940T>A | CA412894611 | SLC35A2 | c.969A>T (p.Leu323Phe) c.355-48A>T (n.355-48A>T) c.427-48A>T (n.427-48A>T) c.531A>T c.1053A>T (p.Leu351Phe) c.1008A>T (p.Leu336Phe) c.424+1452A>T c.786A>T (p.Leu262Phe) c.*863A>T (n.*863A>T) | |
| X | g.48904940T>C | CA516359858 | SLC35A2 | c.969A>G (p.Leu323=) c.355-48A>G (n.355-48A>G) c.427-48A>G (n.427-48A>G) c.531A>G c.1053A>G (p.Leu351=) c.1008A>G (p.Leu336=) c.424+1452A>G c.786A>G (p.Leu262=) c.*863A>G (n.*863A>G) | |
| X | g.48904940T>G | CA412894612 | SLC35A2 | c.969A>C (p.Leu323Phe) c.355-48A>C (n.355-48A>C) c.427-48A>C (n.427-48A>C) c.531A>C c.1053A>C (p.Leu351Phe) c.1008A>C (p.Leu336Phe) c.424+1452A>C c.786A>C (p.Leu262Phe) c.*863A>C (n.*863A>C) | |
| X | g.48904941A>C | CA412894613 | SLC35A2 | c.968T>G (p.Leu323Ter) c.355-49T>G (n.355-49T>G) c.427-49T>G (n.427-49T>G) c.530T>G c.1052T>G (p.Leu351Ter) c.1007T>G (p.Leu336Ter) c.424+1451T>G c.785T>G (p.Leu262Ter) c.*862T>G (n.*862T>G) | |
| X | g.48904941A>G | CA412894614 | SLC35A2 | c.968T>C (p.Leu323Ser) c.355-49T>C (n.355-49T>C) c.427-49T>C (n.427-49T>C) c.530T>C c.1052T>C (p.Leu351Ser) c.1007T>C (p.Leu336Ser) c.424+1451T>C c.785T>C (p.Leu262Ser) c.*862T>C (n.*862T>C) | |
| X | g.48904941A>T | CA412894615 | SLC35A2 | c.968T>A (p.Leu323Ter) c.355-49T>A (n.355-49T>A) c.427-49T>A (n.427-49T>A) c.530T>A c.1052T>A (p.Leu351Ter) c.1007T>A (p.Leu336Ter) c.424+1451T>A c.785T>A (p.Leu262Ter) c.*862T>A (n.*862T>A) | |
| X | g.48904942A>C | CA412894616 | SLC35A2 | c.967T>G (p.Leu323Val) c.355-50T>G (n.355-50T>G) c.427-50T>G (n.427-50T>G) c.529T>G c.1051T>G (p.Leu351Val) c.1006T>G (p.Leu336Val) c.424+1450T>G c.784T>G (p.Leu262Val) c.*861T>G (n.*861T>G) | |
| X | g.48904942A>G | CA516359859 | SLC35A2 | c.967T>C (p.Leu323=) c.355-50T>C (n.355-50T>C) c.427-50T>C (n.427-50T>C) c.529T>C c.1051T>C (p.Leu351=) c.1006T>C (p.Leu336=) c.424+1450T>C c.784T>C (p.Leu262=) c.*861T>C (n.*861T>C) | gnomAD v4 |
| X | g.48904942A>T | CA412894617 | SLC35A2 | c.967T>A (p.Leu323Ile) c.355-50T>A (n.355-50T>A) c.427-50T>A (n.427-50T>A) c.529T>A c.1051T>A (p.Leu351Ile) c.1006T>A (p.Leu336Ile) c.424+1450T>A c.784T>A (p.Leu262Ile) c.*861T>A (n.*861T>A) | |
| X | g.48904943T>A | CA516359860 | SLC35A2 | c.966A>T (p.Pro322=) c.355-51A>T (n.355-51A>T) c.427-51A>T (n.427-51A>T) c.528A>T c.1050A>T (p.Pro350=) c.1005A>T (p.Pro335=) c.424+1449A>T c.783A>T (p.Pro261=) c.*860A>T (n.*860A>T) | |
| X | g.48904943T>C | CA10406079 | SLC35A2 | c.966A>G (p.Pro322=) c.355-51A>G (n.355-51A>G) c.427-51A>G (n.427-51A>G) c.528A>G c.1050A>G (p.Pro350=) c.1005A>G (p.Pro335=) c.424+1449A>G c.783A>G (p.Pro261=) c.*860A>G (n.*860A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48904943T>G | CA516359861 | SLC35A2 | c.966A>C (p.Pro322=) c.355-51A>C (n.355-51A>C) c.427-51A>C (n.427-51A>C) c.528A>C c.1050A>C (p.Pro350=) c.1005A>C (p.Pro335=) c.424+1449A>C c.783A>C (p.Pro261=) c.*860A>C (n.*860A>C) | |
| X | g.48904943T= | CA2428428828 | SLC35A2 | c.966A= (p.Pro322=) c.355-51A= (n.355-51A=) c.427-51A= (n.427-51A=) c.528A= c.1050A= (p.Pro350=) c.1005A= (p.Pro335=) c.424+1449A= c.783A= (p.Pro261=) c.*860A= (n.*860A=) | |
| X | g.48904944G>A | CA412894620 | SLC35A2 | c.965C>T (p.Pro322Leu) c.355-52C>T (n.355-52C>T) c.427-52C>T (n.427-52C>T) c.527C>T c.1049C>T (p.Pro350Leu) c.1004C>T (p.Pro335Leu) c.424+1448C>T c.782C>T (p.Pro261Leu) c.*859C>T (n.*859C>T) | |
| X | g.48904944G>C | CA412894618 | SLC35A2 | c.965C>G (p.Pro322Arg) c.355-52C>G (n.355-52C>G) c.427-52C>G (n.427-52C>G) c.527C>G c.1049C>G (p.Pro350Arg) c.1004C>G (p.Pro335Arg) c.424+1448C>G c.782C>G (p.Pro261Arg) c.*859C>G (n.*859C>G) | |
| X | g.48904944G>T | CA412894619 | SLC35A2 | c.965C>A (p.Pro322Gln) c.355-52C>A (n.355-52C>A) c.427-52C>A (n.427-52C>A) c.527C>A c.1049C>A (p.Pro350Gln) c.1004C>A (p.Pro335Gln) c.424+1448C>A c.782C>A (p.Pro261Gln) c.*859C>A (n.*859C>A) | |
| X | g.48904945G>A | CA412894622 | SLC35A2 | c.964C>T (p.Pro322Ser) c.355-53C>T (n.355-53C>T) c.427-53C>T (n.427-53C>T) c.526C>T c.1048C>T (p.Pro350Ser) c.1003C>T (p.Pro335Ser) c.424+1447C>T c.781C>T (p.Pro261Ser) c.*858C>T (n.*858C>T) | |
| X | g.48904945G>C | CA412894623 | SLC35A2 | c.964C>G (p.Pro322Ala) c.355-53C>G (n.355-53C>G) c.427-53C>G (n.427-53C>G) c.526C>G c.1048C>G (p.Pro350Ala) c.1003C>G (p.Pro335Ala) c.424+1447C>G c.781C>G (p.Pro261Ala) c.*858C>G (n.*858C>G) | |
| X | g.48904945G>T | CA412894625 | SLC35A2 | c.964C>A (p.Pro322Thr) c.355-53C>A (n.355-53C>A) c.427-53C>A (n.427-53C>A) c.526C>A c.1048C>A (p.Pro350Thr) c.1003C>A (p.Pro335Thr) c.424+1447C>A c.781C>A (p.Pro261Thr) c.*858C>A (n.*858C>A) | |
| X | g.48904946G>A | CA516359862 | SLC35A2 | c.963C>T (p.Asp321=) c.355-54C>T (n.355-54C>T) c.427-54C>T (n.427-54C>T) c.525C>T c.1047C>T (p.Asp349=) c.1002C>T (p.Asp334=) c.424+1446C>T c.780C>T (p.Asp260=) c.*857C>T (n.*857C>T) | ClinVar dbSNP |
| X | g.48904946G>C | CA412894627 | SLC35A2 | c.963C>G (p.Asp321Glu) c.355-54C>G (n.355-54C>G) c.427-54C>G (n.427-54C>G) c.525C>G c.1047C>G (p.Asp349Glu) c.1002C>G (p.Asp334Glu) c.424+1446C>G c.780C>G (p.Asp260Glu) c.*857C>G (n.*857C>G) | |
| X | g.48904946G= | CA2428428829 | SLC35A2 | c.963C= (p.Asp321=) c.355-54C= (n.355-54C=) c.427-54C= (n.427-54C=) c.525C= c.1047C= (p.Asp349=) c.1002C= (p.Asp334=) c.424+1446C= c.780C= (p.Asp260=) c.*857C= (n.*857C=) | |
| X | g.48904946G>T | CA412894629 | SLC35A2 | c.963C>A (p.Asp321Glu) c.355-54C>A (n.355-54C>A) c.427-54C>A (n.427-54C>A) c.525C>A c.1047C>A (p.Asp349Glu) c.1002C>A (p.Asp334Glu) c.424+1446C>A c.780C>A (p.Asp260Glu) c.*857C>A (n.*857C>A) | |
| X | g.48904947T>A | CA412894630 | SLC35A2 | c.962A>T (p.Asp321Val) c.355-55A>T (n.355-55A>T) c.427-55A>T (n.427-55A>T) c.524A>T c.1046A>T (p.Asp349Val) c.1001A>T (p.Asp334Val) c.424+1445A>T c.779A>T (p.Asp260Val) c.*856A>T (n.*856A>T) | |
| X | g.48904947T>C | CA412894632 | SLC35A2 | c.962A>G (p.Asp321Gly) c.355-55A>G (n.355-55A>G) c.427-55A>G (n.427-55A>G) c.524A>G c.1046A>G (p.Asp349Gly) c.1001A>G (p.Asp334Gly) c.424+1445A>G c.779A>G (p.Asp260Gly) c.*856A>G (n.*856A>G) | ClinVar |
| X | g.48904947T>G | CA412894635 | SLC35A2 | c.962A>C (p.Asp321Ala) c.355-55A>C (n.355-55A>C) c.427-55A>C (n.427-55A>C) c.524A>C c.1046A>C (p.Asp349Ala) c.1001A>C (p.Asp334Ala) c.424+1445A>C c.779A>C (p.Asp260Ala) c.*856A>C (n.*856A>C) | |
| X | g.48904948C>A | CA412894637 | SLC35A2 | c.961G>T (p.Asp321Tyr) c.355-56G>T (n.355-56G>T) c.427-56G>T (n.427-56G>T) c.523G>T c.1045G>T (p.Asp349Tyr) c.1000G>T (p.Asp334Tyr) c.424+1444G>T c.778G>T (p.Asp260Tyr) c.*855G>T (n.*855G>T) | |
| X | g.48904948C>G | CA412894639 | SLC35A2 | c.961G>C (p.Asp321His) c.355-56G>C (n.355-56G>C) c.427-56G>C (n.427-56G>C) c.523G>C c.1045G>C (p.Asp349His) c.1000G>C (p.Asp334His) c.424+1444G>C c.778G>C (p.Asp260His) c.*855G>C (n.*855G>C) | |
| X | g.48904948C>T | CA412894641 | SLC35A2 | c.961G>A (p.Asp321Asn) c.355-56G>A (n.355-56G>A) c.427-56G>A (n.427-56G>A) c.523G>A c.1045G>A (p.Asp349Asn) c.1000G>A (p.Asp334Asn) c.424+1444G>A c.778G>A (p.Asp260Asn) c.*855G>A (n.*855G>A) | |
| X | g.48904949C>A | CA516359863 | SLC35A2 | c.960G>T (p.Val320=) c.355-57G>T (n.355-57G>T) c.427-57G>T (n.427-57G>T) c.522G>T c.1044G>T (p.Val348=) c.999G>T (p.Val333=) c.424+1443G>T c.777G>T (p.Val259=) c.*854G>T (n.*854G>T) | |
| X | g.48904949C>G | CA516359864 | SLC35A2 | c.960G>C (p.Val320=) c.355-57G>C (n.355-57G>C) c.427-57G>C (n.427-57G>C) c.522G>C c.1044G>C (p.Val348=) c.999G>C (p.Val333=) c.424+1443G>C c.777G>C (p.Val259=) c.*854G>C (n.*854G>C) | |
| X | g.48904949C>T | CA516359865 | SLC35A2 | c.960G>A (p.Val320=) c.355-57G>A (n.355-57G>A) c.427-57G>A (n.427-57G>A) c.522G>A c.1044G>A (p.Val348=) c.999G>A (p.Val333=) c.424+1443G>A c.777G>A (p.Val259=) c.*854G>A (n.*854G>A) | |
| X | g.48904950A>C | CA412894645 | SLC35A2 | c.959T>G (p.Val320Gly) c.355-58T>G (n.355-58T>G) c.427-58T>G (n.427-58T>G) c.521T>G c.1043T>G (p.Val348Gly) c.998T>G (p.Val333Gly) c.424+1442T>G c.776T>G (p.Val259Gly) c.*853T>G (n.*853T>G) | |
| X | g.48904950A>G | CA412894647 | SLC35A2 | c.959T>C (p.Val320Ala) c.355-58T>C (n.355-58T>C) c.427-58T>C (n.427-58T>C) c.521T>C c.1043T>C (p.Val348Ala) c.998T>C (p.Val333Ala) c.424+1442T>C c.776T>C (p.Val259Ala) c.*853T>C (n.*853T>C) | |
| X | g.48904950A>T | CA412894643 | SLC35A2 | c.959T>A (p.Val320Glu) c.355-58T>A (n.355-58T>A) c.427-58T>A (n.427-58T>A) c.521T>A c.1043T>A (p.Val348Glu) c.998T>A (p.Val333Glu) c.424+1442T>A c.776T>A (p.Val259Glu) c.*853T>A (n.*853T>A) | |
| X | g.48904951C>A | CA412894650 | SLC35A2 | c.958G>T (p.Val320Leu) c.355-59G>T (n.355-59G>T) c.427-59G>T (n.427-59G>T) c.520G>T c.1042G>T (p.Val348Leu) c.997G>T (p.Val333Leu) c.424+1441G>T c.775G>T (p.Val259Leu) c.*852G>T (n.*852G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48904951C= | CA2428428830 | SLC35A2 | c.958G= (p.Val320=) c.355-59G= (n.355-59G=) c.427-59G= (n.427-59G=) c.520G= c.1042G= (p.Val348=) c.997G= (p.Val333=) c.424+1441G= c.775G= (p.Val259=) c.*852G= (n.*852G=) | |
| X | g.48904951C>G | CA412894651 | SLC35A2 | c.958G>C (p.Val320Leu) c.355-59G>C (n.355-59G>C) c.427-59G>C (n.427-59G>C) c.520G>C c.1042G>C (p.Val348Leu) c.997G>C (p.Val333Leu) c.424+1441G>C c.775G>C (p.Val259Leu) c.*852G>C (n.*852G>C) | gnomAD v4 |
| X | g.48904951C>T | CA10406080 | SLC35A2 | c.958G>A (p.Val320Met) c.355-59G>A (n.355-59G>A) c.427-59G>A (n.427-59G>A) c.520G>A c.1042G>A (p.Val348Met) c.997G>A (p.Val333Met) c.424+1441G>A c.775G>A (p.Val259Met) c.*852G>A (n.*852G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.48904952G>A | CA10406081 | SLC35A2 | c.957C>T (p.His319=) c.355-60C>T (n.355-60C>T) c.427-60C>T (n.427-60C>T) c.519C>T c.1041C>T (p.His347=) c.996C>T (p.His332=) c.424+1440C>T c.774C>T (p.His258=) c.*851C>T (n.*851C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.48904952G>C | CA412894655 | SLC35A2 | c.957C>G (p.His319Gln) c.355-60C>G (n.355-60C>G) c.427-60C>G (n.427-60C>G) c.519C>G c.1041C>G (p.His347Gln) c.996C>G (p.His332Gln) c.424+1440C>G c.774C>G (p.His258Gln) c.*851C>G (n.*851C>G) | |
| X | g.48904952G= | CA2428428831 | SLC35A2 | c.957C= (p.His319=) c.355-60C= (n.355-60C=) c.427-60C= (n.427-60C=) c.519C= c.1041C= (p.His347=) c.996C= (p.His332=) c.424+1440C= c.774C= (p.His258=) c.*851C= (n.*851C=) | |
| X | g.48904952G>T | CA412894657 | SLC35A2 | c.957C>A (p.His319Gln) c.355-60C>A (n.355-60C>A) c.427-60C>A (n.427-60C>A) c.519C>A c.1041C>A (p.His347Gln) c.996C>A (p.His332Gln) c.424+1440C>A c.774C>A (p.His258Gln) c.*851C>A (n.*851C>A) | |
| X | g.48904953T>A | CA412894662 | SLC35A2 | c.956A>T (p.His319Leu) c.355-61A>T (n.355-61A>T) c.427-61A>T (n.427-61A>T) c.518A>T c.1040A>T (p.His347Leu) c.995A>T (p.His332Leu) c.424+1439A>T c.773A>T (p.His258Leu) c.*850A>T (n.*850A>T) | |
| X | g.48904953T>C | CA412894659 | SLC35A2 | c.956A>G (p.His319Arg) c.355-61A>G (n.355-61A>G) c.427-61A>G (n.427-61A>G) c.518A>G c.1040A>G (p.His347Arg) c.995A>G (p.His332Arg) c.424+1439A>G c.773A>G (p.His258Arg) c.*850A>G (n.*850A>G) | |
| X | g.48904953T>G | CA412894660 | SLC35A2 | c.956A>C (p.His319Pro) c.355-61A>C (n.355-61A>C) c.427-61A>C (n.427-61A>C) c.518A>C c.1040A>C (p.His347Pro) c.995A>C (p.His332Pro) c.424+1439A>C c.773A>C (p.His258Pro) c.*850A>C (n.*850A>C) | |
| X | g.48904954G>A | CA412894664 | SLC35A2 | c.955C>T (p.His319Tyr) c.355-62C>T (n.355-62C>T) c.427-62C>T (n.427-62C>T) c.517C>T c.1039C>T (p.His347Tyr) c.994C>T (p.His332Tyr) c.424+1438C>T c.772C>T (p.His258Tyr) c.*849C>T (n.*849C>T) | ClinVar dbSNP gnomAD v4 |
| X | g.48904954G>C | CA412894666 | SLC35A2 | c.955C>G (p.His319Asp) c.355-62C>G (n.355-62C>G) c.427-62C>G (n.427-62C>G) c.517C>G c.1039C>G (p.His347Asp) c.994C>G (p.His332Asp) c.424+1438C>G c.772C>G (p.His258Asp) c.*849C>G (n.*849C>G) | |
| X | g.48904954G= | CA2428428832 | SLC35A2 | c.955C= (p.His319=) c.355-62C= (n.355-62C=) c.427-62C= (n.427-62C=) c.517C= c.1039C= (p.His347=) c.994C= (p.His332=) c.424+1438C= c.772C= (p.His258=) c.*849C= (n.*849C=) | |
| X | g.48904954G>T | CA412894668 | SLC35A2 | c.955C>A (p.His319Asn) c.355-62C>A (n.355-62C>A) c.427-62C>A (n.427-62C>A) c.517C>A c.1039C>A (p.His347Asn) c.994C>A (p.His332Asn) c.424+1438C>A c.772C>A (p.His258Asn) c.*849C>A (n.*849C>A) | |
| X | g.48904955G>A | CA516359866 | SLC35A2 | c.954C>T (p.Phe318=) c.355-63C>T (n.355-63C>T) c.427-63C>T (n.427-63C>T) c.516C>T c.1038C>T (p.Phe346=) c.993C>T (p.Phe331=) c.424+1437C>T c.771C>T (p.Phe257=) c.*848C>T (n.*848C>T) | |
| X | g.48904955G>C | CA412894671 | SLC35A2 | c.954C>G (p.Phe318Leu) c.355-63C>G (n.355-63C>G) c.427-63C>G (n.427-63C>G) c.516C>G c.1038C>G (p.Phe346Leu) c.993C>G (p.Phe331Leu) c.424+1437C>G c.771C>G (p.Phe257Leu) c.*848C>G (n.*848C>G) | |
| X | g.48904955G= | CA2428428833 | SLC35A2 | c.954C= (p.Phe318=) c.355-63C= (n.355-63C=) c.427-63C= (n.427-63C=) c.516C= c.1038C= (p.Phe346=) c.993C= (p.Phe331=) c.424+1437C= c.771C= (p.Phe257=) c.*848C= (n.*848C=) | |
| X | g.48904955G>T | CA412894673 | SLC35A2 | c.954C>A (p.Phe318Leu) c.355-63C>A (n.355-63C>A) c.427-63C>A (n.427-63C>A) c.516C>A c.1038C>A (p.Phe346Leu) c.993C>A (p.Phe331Leu) c.424+1437C>A c.771C>A (p.Phe257Leu) c.*848C>A (n.*848C>A) | |
| X | g.48904956A>C | CA412894676 | SLC35A2 | c.953T>G (p.Phe318Cys) c.355-64T>G (n.355-64T>G) c.427-64T>G (n.427-64T>G) c.515T>G c.1037T>G (p.Phe346Cys) c.992T>G (p.Phe331Cys) c.424+1436T>G c.770T>G (p.Phe257Cys) c.*847T>G (n.*847T>G) | |
| X | g.48904956A>G | CA412894679 | SLC35A2 | c.953T>C (p.Phe318Ser) c.355-64T>C (n.355-64T>C) c.427-64T>C (n.427-64T>C) c.515T>C c.1037T>C (p.Phe346Ser) c.992T>C (p.Phe331Ser) c.424+1436T>C c.770T>C (p.Phe257Ser) c.*847T>C (n.*847T>C) | |
| X | g.48904956A>T | CA412894677 | SLC35A2 | c.953T>A (p.Phe318Tyr) c.355-64T>A (n.355-64T>A) c.427-64T>A (n.427-64T>A) c.515T>A c.1037T>A (p.Phe346Tyr) c.992T>A (p.Phe331Tyr) c.424+1436T>A c.770T>A (p.Phe257Tyr) c.*847T>A (n.*847T>A) | |
| X | g.48904957dup | CA329098668 | SLC35A2 | c.953dup (p.His319ProfsTer?) c.355-64dup (n.355-64dup) c.427-64dup (n.427-64dup) c.515dup c.1037dup (p.His347ProfsTer?) c.992dup (p.His332ProfsTer?) c.424+1436dup c.770dup (p.His258ProfsTer?) c.*847dup (n.*847dup) | dbSNP |
| X | g.48904957A>C | CA412894681 | SLC35A2 | c.952T>G (p.Phe318Val) c.355-65T>G (n.355-65T>G) c.427-65T>G (n.427-65T>G) c.514T>G c.1036T>G (p.Phe346Val) c.991T>G (p.Phe331Val) c.424+1435T>G c.769T>G (p.Phe257Val) c.*846T>G (n.*846T>G) | |
| X | g.48904957A>G | CA412894683 | SLC35A2 | c.952T>C (p.Phe318Leu) c.355-65T>C (n.355-65T>C) c.427-65T>C (n.427-65T>C) c.514T>C c.1036T>C (p.Phe346Leu) c.991T>C (p.Phe331Leu) c.424+1435T>C c.769T>C (p.Phe257Leu) c.*846T>C (n.*846T>C) | |
| X | g.48904957A>T | CA412894684 | SLC35A2 | c.952T>A (p.Phe318Ile) c.355-65T>A (n.355-65T>A) c.427-65T>A (n.427-65T>A) c.514T>A c.1036T>A (p.Phe346Ile) c.991T>A (p.Phe331Ile) c.424+1435T>A c.769T>A (p.Phe257Ile) c.*846T>A (n.*846T>A) | |
| X | g.48904958G>A | CA516359867 | SLC35A2 | c.951C>T (p.Gly317=) c.355-66C>T (n.355-66C>T) c.427-66C>T (n.427-66C>T) c.513C>T c.1035C>T (p.Gly345=) c.990C>T (p.Gly330=) c.424+1434C>T c.768C>T (p.Gly256=) c.*845C>T (n.*845C>T) | |
| X | g.48904958G>C | CA516359868 | SLC35A2 | c.951C>G (p.Gly317=) c.355-66C>G (n.355-66C>G) c.427-66C>G (n.427-66C>G) c.513C>G c.1035C>G (p.Gly345=) c.990C>G (p.Gly330=) c.424+1434C>G c.768C>G (p.Gly256=) c.*845C>G (n.*845C>G) | |
| X | g.48904958G>T | CA516359869 | SLC35A2 | c.951C>A (p.Gly317=) c.355-66C>A (n.355-66C>A) c.427-66C>A (n.427-66C>A) c.513C>A c.1035C>A (p.Gly345=) c.990C>A (p.Gly330=) c.424+1434C>A c.768C>A (p.Gly256=) c.*845C>A (n.*845C>A) | |
| X | g.48904959C>A | CA412894688 | SLC35A2 | c.950G>T (p.Gly317Val) c.355-67G>T (n.355-67G>T) c.427-67G>T (n.427-67G>T) c.512G>T c.1034G>T (p.Gly345Val) c.989G>T (p.Gly330Val) c.424+1433G>T c.767G>T (p.Gly256Val) c.*844G>T (n.*844G>T) | |
| X | g.48904959C>G | CA412894689 | SLC35A2 | c.950G>C (p.Gly317Ala) c.355-67G>C (n.355-67G>C) c.427-67G>C (n.427-67G>C) c.512G>C c.1034G>C (p.Gly345Ala) c.989G>C (p.Gly330Ala) c.424+1433G>C c.767G>C (p.Gly256Ala) c.*844G>C (n.*844G>C) | |
| X | g.48904959C>T | CA412894690 | SLC35A2 | c.950G>A (p.Gly317Asp) c.355-67G>A (n.355-67G>A) c.427-67G>A (n.427-67G>A) c.512G>A c.1034G>A (p.Gly345Asp) c.989G>A (p.Gly330Asp) c.424+1433G>A c.767G>A (p.Gly256Asp) c.*844G>A (n.*844G>A) | |
| X | g.48904960del | CA2695233836 | SLC35A2 | c.950del (p.Gly317AlafsTer?) c.355-67del (n.355-67del) c.427-67del (n.427-67del) c.512del c.1034del (p.Gly345AlafsTer?) c.989del (p.Gly330AlafsTer?) c.424+1433del c.767del (p.Gly256AlafsTer?) c.*844del (n.*844del) | |
| X | g.48904960C>A | CA412894692 | SLC35A2 | c.949G>T (p.Gly317Cys) c.355-68G>T (n.355-68G>T) c.427-68G>T (n.427-68G>T) c.511G>T c.1033G>T (p.Gly345Cys) c.988G>T (p.Gly330Cys) c.424+1432G>T c.766G>T (p.Gly256Cys) c.*843G>T (n.*843G>T) | |
| X | g.48904960C>G | CA412894694 | SLC35A2 | c.949G>C (p.Gly317Arg) c.355-68G>C (n.355-68G>C) c.427-68G>C (n.427-68G>C) c.511G>C c.1033G>C (p.Gly345Arg) c.988G>C (p.Gly330Arg) c.424+1432G>C c.766G>C (p.Gly256Arg) c.*843G>C (n.*843G>C) | |
| X | g.48904960C>T | CA412894696 | SLC35A2 | c.949G>A (p.Gly317Ser) c.355-68G>A (n.355-68G>A) c.427-68G>A (n.427-68G>A) c.511G>A c.1033G>A (p.Gly345Ser) c.988G>A (p.Gly330Ser) c.424+1432G>A c.766G>A (p.Gly256Ser) c.*843G>A (n.*843G>A) | |
| X | g.48904960_48904962delinsCAA | CA2428428834 | SLC35A2 | c.947_949delinsTTG (p.Phe316=) c.355-70_355-68delinsTTG (n.355-70_355-68delinsTTG) c.427-70_427-68delinsTTG (n.427-70_427-68delinsTTG) c.509_511delinsTTG c.1031_1033delinsTTG (p.Phe344=) c.986_988delinsTTG (p.Phe329=) c.424+1430_424+1432delinsTTG c.764_766delinsTTG (p.Phe255=) c.*841_*843delinsTTG (n.*841_*843delinsTTG) | |
| X | g.48904961A>C | CA412894697 | SLC35A2 | c.948T>G (p.Phe316Leu) c.355-69T>G (n.355-69T>G) c.427-69T>G (n.427-69T>G) c.510T>G c.1032T>G (p.Phe344Leu) c.987T>G (p.Phe329Leu) c.424+1431T>G c.765T>G (p.Phe255Leu) c.*842T>G (n.*842T>G) | |
| X | g.48904961A>G | CA516359870 | SLC35A2 | c.948T>C (p.Phe316=) c.355-69T>C (n.355-69T>C) c.427-69T>C (n.427-69T>C) c.510T>C c.1032T>C (p.Phe344=) c.987T>C (p.Phe329=) c.424+1431T>C c.765T>C (p.Phe255=) c.*842T>C (n.*842T>C) | |
| X | g.48904961A>T | CA412894699 | SLC35A2 | c.948T>A (p.Phe316Leu) c.355-69T>A (n.355-69T>A) c.427-69T>A (n.427-69T>A) c.510T>A c.1032T>A (p.Phe344Leu) c.987T>A (p.Phe329Leu) c.424+1431T>A c.765T>A (p.Phe255Leu) c.*842T>A (n.*842T>A) | |
| X | g.48904962_48904963del | CA916083952 | SLC35A2 | c.947_948del (p.Phe316TrpfsTer?) c.355-70_355-69del (n.355-70_355-69del) c.427-70_427-69del (n.427-70_427-69del) c.509_510del c.1031_1032del (p.Phe344TrpfsTer?) c.986_987del (p.Phe329TrpfsTer?) c.424+1430_424+1431del c.764_765del (p.Phe255TrpfsTer?) c.*841_*842del (n.*841_*842del) | ClinVar dbSNP |
| X | g.48904962A>C | CA412894706 | SLC35A2 | c.947T>G (p.Phe316Cys) c.355-70T>G (n.355-70T>G) c.427-70T>G (n.427-70T>G) c.509T>G c.1031T>G (p.Phe344Cys) c.986T>G (p.Phe329Cys) c.424+1430T>G c.764T>G (p.Phe255Cys) c.*841T>G (n.*841T>G) | |
| X | g.48904962A>G | CA412894704 | SLC35A2 | c.947T>C (p.Phe316Ser) c.355-70T>C (n.355-70T>C) c.427-70T>C (n.427-70T>C) c.509T>C c.1031T>C (p.Phe344Ser) c.986T>C (p.Phe329Ser) c.424+1430T>C c.764T>C (p.Phe255Ser) c.*841T>C (n.*841T>C) | |
| X | g.48904962A>T | CA412894702 | SLC35A2 | c.947T>A (p.Phe316Tyr) c.355-70T>A (n.355-70T>A) c.427-70T>A (n.427-70T>A) c.509T>A c.1031T>A (p.Phe344Tyr) c.986T>A (p.Phe329Tyr) c.424+1430T>A c.764T>A (p.Phe255Tyr) c.*841T>A (n.*841T>A) | |
| X | g.48904963A>C | CA412894709 | SLC35A2 | c.946T>G (p.Phe316Val) c.355-71T>G (n.355-71T>G) c.427-71T>G (n.427-71T>G) c.508T>G c.1030T>G (p.Phe344Val) c.985T>G (p.Phe329Val) c.424+1429T>G c.763T>G (p.Phe255Val) c.*840T>G (n.*840T>G) | |
| X | g.48904963A>G | CA412894713 | SLC35A2 | c.946T>C (p.Phe316Leu) c.355-71T>C (n.355-71T>C) c.427-71T>C (n.427-71T>C) c.508T>C c.1030T>C (p.Phe344Leu) c.985T>C (p.Phe329Leu) c.424+1429T>C c.763T>C (p.Phe255Leu) c.*840T>C (n.*840T>C) | |
| X | g.48904963A>T | CA412894710 | SLC35A2 | c.946T>A (p.Phe316Ile) c.355-71T>A (n.355-71T>A) c.427-71T>A (n.427-71T>A) c.508T>A c.1030T>A (p.Phe344Ile) c.985T>A (p.Phe329Ile) c.424+1429T>A c.763T>A (p.Phe255Ile) c.*840T>A (n.*840T>A) | |
| X | g.48904964G>A | CA10406082 | SLC35A2 | c.945C>T (p.Leu315=) c.355-72C>T (n.355-72C>T) c.427-72C>T (n.427-72C>T) c.507C>T c.1029C>T (p.Leu343=) c.984C>T (p.Leu328=) c.424+1428C>T c.762C>T (p.Leu254=) c.*839C>T (n.*839C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48904964G>C | CA516359871 | SLC35A2 | c.945C>G (p.Leu315=) c.355-72C>G (n.355-72C>G) c.427-72C>G (n.427-72C>G) c.507C>G c.1029C>G (p.Leu343=) c.984C>G (p.Leu328=) c.424+1428C>G c.762C>G (p.Leu254=) c.*839C>G (n.*839C>G) | |
| X | g.48904964G= | CA2428428835 | SLC35A2 | c.945C= (p.Leu315=) c.355-72C= (n.355-72C=) c.427-72C= (n.427-72C=) c.507C= c.1029C= (p.Leu343=) c.984C= (p.Leu328=) c.424+1428C= c.762C= (p.Leu254=) c.*839C= (n.*839C=) | |
| X | g.48904964G>T | CA516359872 | SLC35A2 | c.945C>A (p.Leu315=) c.355-72C>A (n.355-72C>A) c.427-72C>A (n.427-72C>A) c.507C>A c.1029C>A (p.Leu343=) c.984C>A (p.Leu328=) c.424+1428C>A c.762C>A (p.Leu254=) c.*839C>A (n.*839C>A) | |
| X | g.48904965A= | CA2428428836 | SLC35A2 | c.944T= (p.Leu315=) c.355-73T= (n.355-73T=) c.427-73T= (n.427-73T=) c.506T= c.1028T= (p.Leu343=) c.983T= (p.Leu328=) c.424+1427T= c.761T= (p.Leu254=) c.*838T= (n.*838T=) | |
| X | g.48904965A>C | CA412894720 | SLC35A2 | c.944T>G (p.Leu315Arg) c.355-73T>G (n.355-73T>G) c.427-73T>G (n.427-73T>G) c.506T>G c.1028T>G (p.Leu343Arg) c.983T>G (p.Leu328Arg) c.424+1427T>G c.761T>G (p.Leu254Arg) c.*838T>G (n.*838T>G) | |
| X | g.48904965A>G | CA412894717 | SLC35A2 | c.944T>C (p.Leu315Pro) c.355-73T>C (n.355-73T>C) c.427-73T>C (n.427-73T>C) c.506T>C c.1028T>C (p.Leu343Pro) c.983T>C (p.Leu328Pro) c.424+1427T>C c.761T>C (p.Leu254Pro) c.*838T>C (n.*838T>C) | ClinVar dbSNP |
| X | g.48904965A>T | CA412894719 | SLC35A2 | c.944T>A (p.Leu315His) c.355-73T>A (n.355-73T>A) c.427-73T>A (n.427-73T>A) c.506T>A c.1028T>A (p.Leu343His) c.983T>A (p.Leu328His) c.424+1427T>A c.761T>A (p.Leu254His) c.*838T>A (n.*838T>A) | |
| X | g.48904966G>A | CA412894723 | SLC35A2 | c.943C>T (p.Leu315Phe) c.355-74C>T (n.355-74C>T) c.427-74C>T (n.427-74C>T) c.505C>T c.1027C>T (p.Leu343Phe) c.982C>T (p.Leu328Phe) c.424+1426C>T c.760C>T (p.Leu254Phe) c.*837C>T (n.*837C>T) | |
| X | g.48904966G>C | CA412894724 | SLC35A2 | c.943C>G (p.Leu315Val) c.355-74C>G (n.355-74C>G) c.427-74C>G (n.427-74C>G) c.505C>G c.1027C>G (p.Leu343Val) c.982C>G (p.Leu328Val) c.424+1426C>G c.760C>G (p.Leu254Val) c.*837C>G (n.*837C>G) | |
| X | g.48904966G>T | CA412894726 | SLC35A2 | c.943C>A (p.Leu315Ile) c.355-74C>A (n.355-74C>A) c.427-74C>A (n.427-74C>A) c.505C>A c.1027C>A (p.Leu343Ile) c.982C>A (p.Leu328Ile) c.424+1426C>A c.760C>A (p.Leu254Ile) c.*837C>A (n.*837C>A) | COSMIC |
| X | g.48904967G>A | CA10406083 | SLC35A2 | c.942C>T (p.Arg314=) c.355-75C>T (n.355-75C>T) c.427-75C>T (n.427-75C>T) c.504C>T c.1026C>T (p.Arg342=) c.981C>T (p.Arg327=) c.424+1425C>T c.759C>T (p.Arg253=) c.*836C>T (n.*836C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48904967G>C | CA516359874 | SLC35A2 | c.942C>G (p.Arg314=) c.355-75C>G (n.355-75C>G) c.427-75C>G (n.427-75C>G) c.504C>G c.1026C>G (p.Arg342=) c.981C>G (p.Arg327=) c.424+1425C>G c.759C>G (p.Arg253=) c.*836C>G (n.*836C>G) | |
| X | g.48904967G= | CA2428428837 | SLC35A2 | c.942C= (p.Arg314=) c.355-75C= (n.355-75C=) c.427-75C= (n.427-75C=) c.504C= c.1026C= (p.Arg342=) c.981C= (p.Arg327=) c.424+1425C= c.759C= (p.Arg253=) c.*836C= (n.*836C=) | |
| X | g.48904967G>T | CA516359873 | SLC35A2 | c.942C>A (p.Arg314=) c.355-75C>A (n.355-75C>A) c.427-75C>A (n.427-75C>A) c.504C>A c.1026C>A (p.Arg342=) c.981C>A (p.Arg327=) c.424+1425C>A c.759C>A (p.Arg253=) c.*836C>A (n.*836C>A) | |
| X | g.48904968C>A | CA412894730 | SLC35A2 | c.941G>T (p.Arg314Leu) c.355-76G>T (n.355-76G>T) c.427-76G>T (n.427-76G>T) c.503G>T c.1025G>T (p.Arg342Leu) c.980G>T (p.Arg327Leu) c.424+1424G>T c.758G>T (p.Arg253Leu) c.*835G>T (n.*835G>T) | dbSNP |
| X | g.48904968C= | CA2428428838 | SLC35A2 | c.941G= (p.Arg314=) c.355-76G= (n.355-76G=) c.427-76G= (n.427-76G=) c.503G= c.1025G= (p.Arg342=) c.980G= (p.Arg327=) c.424+1424G= c.758G= (p.Arg253=) c.*835G= (n.*835G=) | |
| X | g.48904968C>G | CA412894732 | SLC35A2 | c.941G>C (p.Arg314Pro) c.355-76G>C (n.355-76G>C) c.427-76G>C (n.427-76G>C) c.503G>C c.1025G>C (p.Arg342Pro) c.980G>C (p.Arg327Pro) c.424+1424G>C c.758G>C (p.Arg253Pro) c.*835G>C (n.*835G>C) | |
| X | g.48904968C>T | CA329098725 | SLC35A2 | c.941G>A (p.Arg314His) c.355-76G>A (n.355-76G>A) c.427-76G>A (n.427-76G>A) c.503G>A c.1025G>A (p.Arg342His) c.980G>A (p.Arg327His) c.424+1424G>A c.758G>A (p.Arg253His) c.*835G>A (n.*835G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48904969G>A | CA10406084 | SLC35A2 | c.940C>T (p.Arg314Cys) c.355-77C>T (n.355-77C>T) c.427-77C>T (n.427-77C>T) c.502C>T c.1024C>T (p.Arg342Cys) c.979C>T (p.Arg327Cys) c.424+1423C>T c.757C>T (p.Arg253Cys) c.*834C>T (n.*834C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48904969G>C | CA412894736 | SLC35A2 | c.940C>G (p.Arg314Gly) c.355-77C>G (n.355-77C>G) c.427-77C>G (n.427-77C>G) c.502C>G c.1024C>G (p.Arg342Gly) c.979C>G (p.Arg327Gly) c.424+1423C>G c.757C>G (p.Arg253Gly) c.*834C>G (n.*834C>G) | |
| X | g.48904969G= | CA2428428839 | SLC35A2 | c.940C= (p.Arg314=) c.355-77C= (n.355-77C=) c.427-77C= (n.427-77C=) c.502C= c.1024C= (p.Arg342=) c.979C= (p.Arg327=) c.424+1423C= c.757C= (p.Arg253=) c.*834C= (n.*834C=) | |
| X | g.48904969G>T | CA412894738 | SLC35A2 | c.940C>A (p.Arg314Ser) c.355-77C>A (n.355-77C>A) c.427-77C>A (n.427-77C>A) c.502C>A c.1024C>A (p.Arg342Ser) c.979C>A (p.Arg327Ser) c.424+1423C>A c.757C>A (p.Arg253Ser) c.*834C>A (n.*834C>A) | gnomAD v4 |
| X | g.48904970A= | CA2428428840 | SLC35A2 | c.939T= (p.Ile313=) c.355-78T= (n.355-78T=) c.427-78T= (n.427-78T=) c.501T= c.1023T= (p.Ile341=) c.978T= (p.Ile326=) c.424+1422T= c.756T= (p.Ile252=) c.*833T= (n.*833T=) | |
| X | g.48904970A>C | CA412894741 | SLC35A2 | c.939T>G (p.Ile313Met) c.355-78T>G (n.355-78T>G) c.427-78T>G (n.427-78T>G) c.501T>G c.1023T>G (p.Ile341Met) c.978T>G (p.Ile326Met) c.424+1422T>G c.756T>G (p.Ile252Met) c.*833T>G (n.*833T>G) | |
| X | g.48904970A>G | CA516359875 | SLC35A2 | c.939T>C (p.Ile313=) c.355-78T>C (n.355-78T>C) c.427-78T>C (n.427-78T>C) c.501T>C c.1023T>C (p.Ile341=) c.978T>C (p.Ile326=) c.424+1422T>C c.756T>C (p.Ile252=) c.*833T>C (n.*833T>C) | dbSNP |
| X | g.48904970A>T | CA516359876 | SLC35A2 | c.939T>A (p.Ile313=) c.355-78T>A (n.355-78T>A) c.427-78T>A (n.427-78T>A) c.501T>A c.1023T>A (p.Ile341=) c.978T>A (p.Ile326=) c.424+1422T>A c.756T>A (p.Ile252=) c.*833T>A (n.*833T>A) | |
| X | g.48904971A= | CA2428428841 | SLC35A2 | c.938T= (p.Ile313=) c.355-79T= (n.355-79T=) c.427-79T= (n.427-79T=) c.500T= c.1022T= (p.Ile341=) c.977T= (p.Ile326=) c.424+1421T= c.755T= (p.Ile252=) c.*832T= (n.*832T=) | |
| X | g.48904971A>C | CA412894746 | SLC35A2 | c.938T>G (p.Ile313Ser) c.355-79T>G (n.355-79T>G) c.427-79T>G (n.427-79T>G) c.500T>G c.1022T>G (p.Ile341Ser) c.977T>G (p.Ile326Ser) c.424+1421T>G c.755T>G (p.Ile252Ser) c.*832T>G (n.*832T>G) | |
| X | g.48904971A>G | CA412894742 | SLC35A2 | c.938T>C (p.Ile313Thr) c.355-79T>C (n.355-79T>C) c.427-79T>C (n.427-79T>C) c.500T>C c.1022T>C (p.Ile341Thr) c.977T>C (p.Ile326Thr) c.424+1421T>C c.755T>C (p.Ile252Thr) c.*832T>C (n.*832T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48904971A>T | CA412894744 | SLC35A2 | c.938T>A (p.Ile313Asn) c.355-79T>A (n.355-79T>A) c.427-79T>A (n.427-79T>A) c.500T>A c.1022T>A (p.Ile341Asn) c.977T>A (p.Ile326Asn) c.424+1421T>A c.755T>A (p.Ile252Asn) c.*832T>A (n.*832T>A) | |
| X | g.48904972T>A | CA412894749 | SLC35A2 | c.937A>T (p.Ile313Phe) c.355-80A>T (n.355-80A>T) c.427-80A>T (n.427-80A>T) c.499A>T c.1021A>T (p.Ile341Phe) c.976A>T (p.Ile326Phe) c.424+1420A>T c.754A>T (p.Ile252Phe) c.*831A>T (n.*831A>T) | |
| X | g.48904972T>C | CA412894751 | SLC35A2 | c.937A>G (p.Ile313Val) c.355-80A>G (n.355-80A>G) c.427-80A>G (n.427-80A>G) c.499A>G c.1021A>G (p.Ile341Val) c.976A>G (p.Ile326Val) c.424+1420A>G c.754A>G (p.Ile252Val) c.*831A>G (n.*831A>G) | |
| X | g.48904972T>G | CA412894752 | SLC35A2 | c.937A>C (p.Ile313Leu) c.355-80A>C (n.355-80A>C) c.427-80A>C (n.427-80A>C) c.499A>C c.1021A>C (p.Ile341Leu) c.976A>C (p.Ile326Leu) c.424+1420A>C c.754A>C (p.Ile252Leu) c.*831A>C (n.*831A>C) | gnomAD v4 |
| X | g.48904973G>A | CA516359877 | SLC35A2 | c.936C>T (p.Ser312=) c.355-81C>T (n.355-81C>T) c.427-81C>T (n.427-81C>T) c.498C>T c.1020C>T (p.Ser340=) c.975C>T (p.Ser325=) c.424+1419C>T c.753C>T (p.Ser251=) c.*830C>T (n.*830C>T) | |
| X | g.48904973G>C | CA516359878 | SLC35A2 | c.936C>G (p.Ser312=) c.355-81C>G (n.355-81C>G) c.427-81C>G (n.427-81C>G) c.498C>G c.1020C>G (p.Ser340=) c.975C>G (p.Ser325=) c.424+1419C>G c.753C>G (p.Ser251=) c.*830C>G (n.*830C>G) | |
| X | g.48904973G>T | CA516359879 | SLC35A2 | c.936C>A (p.Ser312=) c.355-81C>A (n.355-81C>A) c.427-81C>A (n.427-81C>A) c.498C>A c.1020C>A (p.Ser340=) c.975C>A (p.Ser325=) c.424+1419C>A c.753C>A (p.Ser251=) c.*830C>A (n.*830C>A) | |
| X | g.48904974G>A | CA412894755 | SLC35A2 | c.935C>T (p.Ser312Phe) c.355-82C>T (n.355-82C>T) c.427-82C>T (n.427-82C>T) c.497C>T c.1019C>T (p.Ser340Phe) c.974C>T (p.Ser325Phe) c.424+1418C>T c.752C>T (p.Ser251Phe) c.*829C>T (n.*829C>T) | |
| X | g.48904974G>C | CA412894757 | SLC35A2 | c.935C>G (p.Ser312Cys) c.355-82C>G (n.355-82C>G) c.427-82C>G (n.427-82C>G) c.497C>G c.1019C>G (p.Ser340Cys) c.974C>G (p.Ser325Cys) c.424+1418C>G c.752C>G (p.Ser251Cys) c.*829C>G (n.*829C>G) | |
| X | g.48904974G>T | CA412894758 | SLC35A2 | c.935C>A (p.Ser312Tyr) c.355-82C>A (n.355-82C>A) c.427-82C>A (n.427-82C>A) c.497C>A c.1019C>A (p.Ser340Tyr) c.974C>A (p.Ser325Tyr) c.424+1418C>A c.752C>A (p.Ser251Tyr) c.*829C>A (n.*829C>A) | |
| X | g.48904975A>C | CA412894761 | SLC35A2 | c.934T>G (p.Ser312Ala) c.355-83T>G (n.355-83T>G) c.427-83T>G (n.427-83T>G) c.496T>G c.1018T>G (p.Ser340Ala) c.973T>G (p.Ser325Ala) c.424+1417T>G c.751T>G (p.Ser251Ala) c.*828T>G (n.*828T>G) | |
| X | g.48904975A>G | CA412894763 | SLC35A2 | c.934T>C (p.Ser312Pro) c.355-83T>C (n.355-83T>C) c.427-83T>C (n.427-83T>C) c.496T>C c.1018T>C (p.Ser340Pro) c.973T>C (p.Ser325Pro) c.424+1417T>C c.751T>C (p.Ser251Pro) c.*828T>C (n.*828T>C) | |
| X | g.48904975A>T | CA412894765 | SLC35A2 | c.934T>A (p.Ser312Thr) c.355-83T>A (n.355-83T>A) c.427-83T>A (n.427-83T>A) c.496T>A c.1018T>A (p.Ser340Thr) c.973T>A (p.Ser325Thr) c.424+1417T>A c.751T>A (p.Ser251Thr) c.*828T>A (n.*828T>A) | |
| X | g.48904976G>A | CA516359880 | SLC35A2 | c.933C>T (p.Ala311=) c.355-84C>T (n.355-84C>T) c.427-84C>T (n.427-84C>T) c.495C>T c.1017C>T (p.Ala339=) c.972C>T (p.Ala324=) c.424+1416C>T c.750C>T (p.Ala250=) c.*827C>T (n.*827C>T) | dbSNP gnomAD v4 |
| X | g.48904976G>C | CA516359881 | SLC35A2 | c.933C>G (p.Ala311=) c.355-84C>G (n.355-84C>G) c.427-84C>G (n.427-84C>G) c.495C>G c.1017C>G (p.Ala339=) c.972C>G (p.Ala324=) c.424+1416C>G c.750C>G (p.Ala250=) c.*827C>G (n.*827C>G) | |
| X | g.48904976G= | CA2428428842 | SLC35A2 | c.933C= (p.Ala311=) c.355-84C= (n.355-84C=) c.427-84C= (n.427-84C=) c.495C= c.1017C= (p.Ala339=) c.972C= (p.Ala324=) c.424+1416C= c.750C= (p.Ala250=) c.*827C= (n.*827C=) | |
| X | g.48904976G>T | CA516359882 | SLC35A2 | c.933C>A (p.Ala311=) c.355-84C>A (n.355-84C>A) c.427-84C>A (n.427-84C>A) c.495C>A c.1017C>A (p.Ala339=) c.972C>A (p.Ala324=) c.424+1416C>A c.750C>A (p.Ala250=) c.*827C>A (n.*827C>A) | |
| X | g.48904977G>A | CA412894767 | SLC35A2 | c.932C>T (p.Ala311Val) c.355-85C>T (n.355-85C>T) c.427-85C>T (n.427-85C>T) c.494C>T c.1016C>T (p.Ala339Val) c.971C>T (p.Ala324Val) c.424+1415C>T c.749C>T (p.Ala250Val) c.*826C>T (n.*826C>T) | |
| X | g.48904977G>C | CA412894769 | SLC35A2 | c.932C>G (p.Ala311Gly) c.355-85C>G (n.355-85C>G) c.427-85C>G (n.427-85C>G) c.494C>G c.1016C>G (p.Ala339Gly) c.971C>G (p.Ala324Gly) c.424+1415C>G c.749C>G (p.Ala250Gly) c.*826C>G (n.*826C>G) | |
| X | g.48904977G>T | CA412894771 | SLC35A2 | c.932C>A (p.Ala311Asp) c.355-85C>A (n.355-85C>A) c.427-85C>A (n.427-85C>A) c.494C>A c.1016C>A (p.Ala339Asp) c.971C>A (p.Ala324Asp) c.424+1415C>A c.749C>A (p.Ala250Asp) c.*826C>A (n.*826C>A) | |
| X | g.48904978C>A | CA412894773 | SLC35A2 | c.931G>T (p.Ala311Ser) c.355-86G>T (n.355-86G>T) c.427-86G>T (n.427-86G>T) c.493G>T c.1015G>T (p.Ala339Ser) c.970G>T (p.Ala324Ser) c.424+1414G>T c.748G>T (p.Ala250Ser) c.*825G>T (n.*825G>T) | |
| X | g.48904978C>G | CA412894777 | SLC35A2 | c.931G>C (p.Ala311Pro) c.355-86G>C (n.355-86G>C) c.427-86G>C (n.427-86G>C) c.493G>C c.1015G>C (p.Ala339Pro) c.970G>C (p.Ala324Pro) c.424+1414G>C c.748G>C (p.Ala250Pro) c.*825G>C (n.*825G>C) | |
| X | g.48904978C>T | CA412894775 | SLC35A2 | c.931G>A (p.Ala311Thr) c.355-86G>A (n.355-86G>A) c.427-86G>A (n.427-86G>A) c.493G>A c.1015G>A (p.Ala339Thr) c.970G>A (p.Ala324Thr) c.424+1414G>A c.748G>A (p.Ala250Thr) c.*825G>A (n.*825G>A) | |
| X | g.48904979A>C | CA516359883 | SLC35A2 | c.930T>G (p.Val310=) c.355-87T>G (n.355-87T>G) c.427-87T>G (n.427-87T>G) c.492T>G c.1014T>G (p.Val338=) c.969T>G (p.Val323=) c.424+1413T>G c.747T>G (p.Val249=) c.*824T>G (n.*824T>G) | |
| X | g.48904979A>G | CA516359884 | SLC35A2 | c.930T>C (p.Val310=) c.355-87T>C (n.355-87T>C) c.427-87T>C (n.427-87T>C) c.492T>C c.1014T>C (p.Val338=) c.969T>C (p.Val323=) c.424+1413T>C c.747T>C (p.Val249=) c.*824T>C (n.*824T>C) | |
| X | g.48904979A>T | CA516359885 | SLC35A2 | c.930T>A (p.Val310=) c.355-87T>A (n.355-87T>A) c.427-87T>A (n.427-87T>A) c.492T>A c.1014T>A (p.Val338=) c.969T>A (p.Val323=) c.424+1413T>A c.747T>A (p.Val249=) c.*824T>A (n.*824T>A) | |
| X | g.48904980A>C | CA412894779 | SLC35A2 | c.929T>G (p.Val310Gly) c.355-88T>G (n.355-88T>G) c.427-88T>G (n.427-88T>G) c.491T>G c.1013T>G (p.Val338Gly) c.968T>G (p.Val323Gly) c.424+1412T>G c.746T>G (p.Val249Gly) c.*823T>G (n.*823T>G) | |
| X | g.48904980A>G | CA412894781 | SLC35A2 | c.929T>C (p.Val310Ala) c.355-88T>C (n.355-88T>C) c.427-88T>C (n.427-88T>C) c.491T>C c.1013T>C (p.Val338Ala) c.968T>C (p.Val323Ala) c.424+1412T>C c.746T>C (p.Val249Ala) c.*823T>C (n.*823T>C) | |
| X | g.48904980A>T | CA412894783 | SLC35A2 | c.929T>A (p.Val310Asp) c.355-88T>A (n.355-88T>A) c.427-88T>A (n.427-88T>A) c.491T>A c.1013T>A (p.Val338Asp) c.968T>A (p.Val323Asp) c.424+1412T>A c.746T>A (p.Val249Asp) c.*823T>A (n.*823T>A) | |
| X | g.48904983_48904994dup | CA2740092153 | SLC35A2 | c.918_929dup (p.Val310_Ala311insLeuSerThrVal) c.355-99_355-88dup (n.355-99_355-88dup) c.427-99_427-88dup (n.427-99_427-88dup) c.480_491dup c.1002_1013dup (p.Val338_Ala339insLeuSerThrVal) c.957_968dup (p.Val323_Ala324insLeuSerThrVal) c.424+1401_424+1412dup c.735_746dup (p.Val249_Ala250insLeuSerThrVal) c.*812_*823dup (n.*812_*823dup) | ClinVar |
| X | g.48904981C>A | CA412894785 | SLC35A2 | c.928G>T (p.Val310Phe) c.355-89G>T (n.355-89G>T) c.427-89G>T (n.427-89G>T) c.490G>T c.1012G>T (p.Val338Phe) c.967G>T (p.Val323Phe) c.424+1411G>T c.745G>T (p.Val249Phe) c.*822G>T (n.*822G>T) | |
| X | g.48904981C>G | CA412894787 | SLC35A2 | c.928G>C (p.Val310Leu) c.355-89G>C (n.355-89G>C) c.427-89G>C (n.427-89G>C) c.490G>C c.1012G>C (p.Val338Leu) c.967G>C (p.Val323Leu) c.424+1411G>C c.745G>C (p.Val249Leu) c.*822G>C (n.*822G>C) | gnomAD v4 |
| X | g.48904981C>T | CA412894789 | SLC35A2 | c.928G>A (p.Val310Ile) c.355-89G>A (n.355-89G>A) c.427-89G>A (n.427-89G>A) c.490G>A c.1012G>A (p.Val338Ile) c.967G>A (p.Val323Ile) c.424+1411G>A c.745G>A (p.Val249Ile) c.*822G>A (n.*822G>A) | |
| X | g.48904982A= | CA2428428843 | SLC35A2 | c.927T= (p.Thr309=) c.355-90T= (n.355-90T=) c.427-90T= (n.427-90T=) c.489T= c.1011T= (p.Thr337=) c.966T= (p.Thr322=) c.424+1410T= c.744T= (p.Thr248=) c.*821T= (n.*821T=) | |
| X | g.48904982A>C | CA516359888 | SLC35A2 | c.927T>G (p.Thr309=) c.355-90T>G (n.355-90T>G) c.427-90T>G (n.427-90T>G) c.489T>G c.1011T>G (p.Thr337=) c.966T>G (p.Thr322=) c.424+1410T>G c.744T>G (p.Thr248=) c.*821T>G (n.*821T>G) | |
| X | g.48904982A>G | CA516359886 | SLC35A2 | c.927T>C (p.Thr309=) c.355-90T>C (n.355-90T>C) c.427-90T>C (n.427-90T>C) c.489T>C c.1011T>C (p.Thr337=) c.966T>C (p.Thr322=) c.424+1410T>C c.744T>C (p.Thr248=) c.*821T>C (n.*821T>C) | dbSNP gnomAD v4 |
| X | g.48904982A>T | CA516359887 | SLC35A2 | c.927T>A (p.Thr309=) c.355-90T>A (n.355-90T>A) c.427-90T>A (n.427-90T>A) c.489T>A c.1011T>A (p.Thr337=) c.966T>A (p.Thr322=) c.424+1410T>A c.744T>A (p.Thr248=) c.*821T>A (n.*821T>A) | |
| X | g.48904983G>A | CA412894791 | SLC35A2 | c.926C>T (p.Thr309Ile) c.355-91C>T (n.355-91C>T) c.427-91C>T (n.427-91C>T) c.488C>T c.1010C>T (p.Thr337Ile) c.965C>T (p.Thr322Ile) c.424+1409C>T c.743C>T (p.Thr248Ile) c.*820C>T (n.*820C>T) | |
| X | g.48904983G>C | CA412894793 | SLC35A2 | c.926C>G (p.Thr309Ser) c.355-91C>G (n.355-91C>G) c.427-91C>G (n.427-91C>G) c.488C>G c.1010C>G (p.Thr337Ser) c.965C>G (p.Thr322Ser) c.424+1409C>G c.743C>G (p.Thr248Ser) c.*820C>G (n.*820C>G) | |
| X | g.48904983G>T | CA412894795 | SLC35A2 | c.926C>A (p.Thr309Asn) c.355-91C>A (n.355-91C>A) c.427-91C>A (n.427-91C>A) c.488C>A c.1010C>A (p.Thr337Asn) c.965C>A (p.Thr322Asn) c.424+1409C>A c.743C>A (p.Thr248Asn) c.*820C>A (n.*820C>A) | |
| X | g.48904984T>A | CA412894800 | SLC35A2 | c.925A>T (p.Thr309Ser) c.355-92A>T (n.355-92A>T) c.427-92A>T (n.427-92A>T) c.487A>T c.1009A>T (p.Thr337Ser) c.964A>T (p.Thr322Ser) c.424+1408A>T c.742A>T (p.Thr248Ser) c.*819A>T (n.*819A>T) | |
| X | g.48904984T>C | CA412894802 | SLC35A2 | c.925A>G (p.Thr309Ala) c.355-92A>G (n.355-92A>G) c.427-92A>G (n.427-92A>G) c.487A>G c.1009A>G (p.Thr337Ala) c.964A>G (p.Thr322Ala) c.424+1408A>G c.742A>G (p.Thr248Ala) c.*819A>G (n.*819A>G) | |
| X | g.48904984T>G | CA412894804 | SLC35A2 | c.925A>C (p.Thr309Pro) c.355-92A>C (n.355-92A>C) c.427-92A>C (n.427-92A>C) c.487A>C c.1009A>C (p.Thr337Pro) c.964A>C (p.Thr322Pro) c.424+1408A>C c.742A>C (p.Thr248Pro) c.*819A>C (n.*819A>C) | |
| X | g.48904985G>A | CA516359889 | SLC35A2 | c.924C>T (p.Ser308=) c.355-93C>T (n.355-93C>T) c.427-93C>T (n.427-93C>T) c.486C>T c.1008C>T (p.Ser336=) c.963C>T (p.Ser321=) c.424+1407C>T c.741C>T (p.Ser247=) c.*818C>T (n.*818C>T) | |
| X | g.48904985G>C | CA516359890 | SLC35A2 | c.924C>G (p.Ser308=) c.355-93C>G (n.355-93C>G) c.427-93C>G (n.427-93C>G) c.486C>G c.1008C>G (p.Ser336=) c.963C>G (p.Ser321=) c.424+1407C>G c.741C>G (p.Ser247=) c.*818C>G (n.*818C>G) | |
| X | g.48904985G>T | CA516359891 | SLC35A2 | c.924C>A (p.Ser308=) c.355-93C>A (n.355-93C>A) c.427-93C>A (n.427-93C>A) c.486C>A c.1008C>A (p.Ser336=) c.963C>A (p.Ser321=) c.424+1407C>A c.741C>A (p.Ser247=) c.*818C>A (n.*818C>A) | |
| X | g.48904986G>A | CA412894810 | SLC35A2 | c.923C>T (p.Ser308Phe) c.355-94C>T (n.355-94C>T) c.427-94C>T (n.427-94C>T) c.485C>T c.1007C>T (p.Ser336Phe) c.962C>T (p.Ser321Phe) c.424+1406C>T c.740C>T (p.Ser247Phe) c.*817C>T (n.*817C>T) | ClinVar |
| X | g.48904986G>C | CA412894807 | SLC35A2 | c.923C>G (p.Ser308Cys) c.355-94C>G (n.355-94C>G) c.427-94C>G (n.427-94C>G) c.485C>G c.1007C>G (p.Ser336Cys) c.962C>G (p.Ser321Cys) c.424+1406C>G c.740C>G (p.Ser247Cys) c.*817C>G (n.*817C>G) | |
| X | g.48904986G>T | CA412894808 | SLC35A2 | c.923C>A (p.Ser308Tyr) c.355-94C>A (n.355-94C>A) c.427-94C>A (n.427-94C>A) c.485C>A c.1007C>A (p.Ser336Tyr) c.962C>A (p.Ser321Tyr) c.424+1406C>A c.740C>A (p.Ser247Tyr) c.*817C>A (n.*817C>A) | |
| X | g.48904987A>C | CA412894811 | SLC35A2 | c.922T>G (p.Ser308Ala) c.355-95T>G (n.355-95T>G) c.427-95T>G (n.427-95T>G) c.484T>G c.1006T>G (p.Ser336Ala) c.961T>G (p.Ser321Ala) c.424+1405T>G c.739T>G (p.Ser247Ala) c.*816T>G (n.*816T>G) | |
| X | g.48904987A>G | CA412894812 | SLC35A2 | c.922T>C (p.Ser308Pro) c.355-95T>C (n.355-95T>C) c.427-95T>C (n.427-95T>C) c.484T>C c.1006T>C (p.Ser336Pro) c.961T>C (p.Ser321Pro) c.424+1405T>C c.739T>C (p.Ser247Pro) c.*816T>C (n.*816T>C) | |
| X | g.48904987A>T | CA412894813 | SLC35A2 | c.922T>A (p.Ser308Thr) c.355-95T>A (n.355-95T>A) c.427-95T>A (n.427-95T>A) c.484T>A c.1006T>A (p.Ser336Thr) c.961T>A (p.Ser321Thr) c.424+1405T>A c.739T>A (p.Ser247Thr) c.*816T>A (n.*816T>A) | |
| X | g.48904988C>A | CA516359894 | SLC35A2 | c.921G>T (p.Leu307=) c.355-96G>T (n.355-96G>T) c.427-96G>T (n.427-96G>T) c.483G>T c.1005G>T (p.Leu335=) c.960G>T (p.Leu320=) c.424+1404G>T c.738G>T (p.Leu246=) c.*815G>T (n.*815G>T) | |
| X | g.48904988C>G | CA516359892 | SLC35A2 | c.921G>C (p.Leu307=) c.355-96G>C (n.355-96G>C) c.427-96G>C (n.427-96G>C) c.483G>C c.1005G>C (p.Leu335=) c.960G>C (p.Leu320=) c.424+1404G>C c.738G>C (p.Leu246=) c.*815G>C (n.*815G>C) | |
| X | g.48904988C>T | CA516359893 | SLC35A2 | c.921G>A (p.Leu307=) c.355-96G>A (n.355-96G>A) c.427-96G>A (n.427-96G>A) c.483G>A c.1005G>A (p.Leu335=) c.960G>A (p.Leu320=) c.424+1404G>A c.738G>A (p.Leu246=) c.*815G>A (n.*815G>A) | |
| X | g.48904989A>C | CA412894816 | SLC35A2 | c.920T>G (p.Leu307Arg) c.355-97T>G (n.355-97T>G) c.427-97T>G (n.427-97T>G) c.482T>G c.1004T>G (p.Leu335Arg) c.959T>G (p.Leu320Arg) c.424+1403T>G c.737T>G (p.Leu246Arg) c.*814T>G (n.*814T>G) | |
| X | g.48904989A>G | CA412894817 | SLC35A2 | c.920T>C (p.Leu307Pro) c.355-97T>C (n.355-97T>C) c.427-97T>C (n.427-97T>C) c.482T>C c.1004T>C (p.Leu335Pro) c.959T>C (p.Leu320Pro) c.424+1403T>C c.737T>C (p.Leu246Pro) c.*814T>C (n.*814T>C) | |
| X | g.48904989A>T | CA412894819 | SLC35A2 | c.920T>A (p.Leu307Gln) c.355-97T>A (n.355-97T>A) c.427-97T>A (n.427-97T>A) c.482T>A c.1004T>A (p.Leu335Gln) c.959T>A (p.Leu320Gln) c.424+1403T>A c.737T>A (p.Leu246Gln) c.*814T>A (n.*814T>A) | |
| X | g.48904990G>A | CA516359895 | SLC35A2 | c.919C>T (p.Leu307=) c.355-98C>T (n.355-98C>T) c.427-98C>T (n.427-98C>T) c.481C>T c.1003C>T (p.Leu335=) c.958C>T (p.Leu320=) c.424+1402C>T c.736C>T (p.Leu246=) c.*813C>T (n.*813C>T) | dbSNP gnomAD v4 |
| X | g.48904990G>C | CA412894821 | SLC35A2 | c.919C>G (p.Leu307Val) c.355-98C>G (n.355-98C>G) c.427-98C>G (n.427-98C>G) c.481C>G c.1003C>G (p.Leu335Val) c.958C>G (p.Leu320Val) c.424+1402C>G c.736C>G (p.Leu246Val) c.*813C>G (n.*813C>G) | |
| X | g.48904990G= | CA2428428844 | SLC35A2 | c.919C= (p.Leu307=) c.355-98C= (n.355-98C=) c.427-98C= (n.427-98C=) c.481C= c.1003C= (p.Leu335=) c.958C= (p.Leu320=) c.424+1402C= c.736C= (p.Leu246=) c.*813C= (n.*813C=) | |
| X | g.48904990G>T | CA412894823 | SLC35A2 | c.919C>A (p.Leu307Met) c.355-98C>A (n.355-98C>A) c.427-98C>A (n.427-98C>A) c.481C>A c.1003C>A (p.Leu335Met) c.958C>A (p.Leu320Met) c.424+1402C>A c.736C>A (p.Leu246Met) c.*813C>A (n.*813C>A) | |
| X | g.48904991C>A | CA516359896 | SLC35A2 | c.918G>T (p.Val306=) c.355-99G>T (n.355-99G>T) c.427-99G>T (n.427-99G>T) c.480G>T c.1002G>T (p.Val334=) c.957G>T (p.Val319=) c.424+1401G>T c.735G>T (p.Val245=) c.*812G>T (n.*812G>T) | |
| X | g.48904991C>G | CA516359897 | SLC35A2 | c.918G>C (p.Val306=) c.355-99G>C (n.355-99G>C) c.427-99G>C (n.427-99G>C) c.480G>C c.1002G>C (p.Val334=) c.957G>C (p.Val319=) c.424+1401G>C c.735G>C (p.Val245=) c.*812G>C (n.*812G>C) | |
| X | g.48904991C>T | CA516359898 | SLC35A2 | c.918G>A (p.Val306=) c.355-99G>A (n.355-99G>A) c.427-99G>A (n.427-99G>A) c.480G>A c.1002G>A (p.Val334=) c.957G>A (p.Val319=) c.424+1401G>A c.735G>A (p.Val245=) c.*812G>A (n.*812G>A) | gnomAD v4 |
| X | g.48904992A>C | CA412894825 | SLC35A2 | c.917T>G (p.Val306Gly) c.355-100T>G (n.355-100T>G) c.427-100T>G (n.427-100T>G) c.479T>G c.1001T>G (p.Val334Gly) c.956T>G (p.Val319Gly) c.424+1400T>G c.734T>G (p.Val245Gly) c.*811T>G (n.*811T>G) | |
| X | g.48904992A>G | CA412894827 | SLC35A2 | c.917T>C (p.Val306Ala) c.355-100T>C (n.355-100T>C) c.427-100T>C (n.427-100T>C) c.479T>C c.1001T>C (p.Val334Ala) c.956T>C (p.Val319Ala) c.424+1400T>C c.734T>C (p.Val245Ala) c.*811T>C (n.*811T>C) | |
| X | g.48904992A>T | CA412894829 | SLC35A2 | c.917T>A (p.Val306Glu) c.355-100T>A (n.355-100T>A) c.427-100T>A (n.427-100T>A) c.479T>A c.1001T>A (p.Val334Glu) c.956T>A (p.Val319Glu) c.424+1400T>A c.734T>A (p.Val245Glu) c.*811T>A (n.*811T>A) | |
| X | g.48904993C>A | CA412894833 | SLC35A2 | c.916G>T (p.Val306Leu) c.355-101G>T (n.355-101G>T) c.427-101G>T (n.427-101G>T) c.478G>T c.1000G>T (p.Val334Leu) c.955G>T (p.Val319Leu) c.424+1399G>T c.733G>T (p.Val245Leu) c.*810G>T (n.*810G>T) | |
| X | g.48904993C>G | CA412894835 | SLC35A2 | c.916G>C (p.Val306Leu) c.355-101G>C (n.355-101G>C) c.427-101G>C (n.427-101G>C) c.478G>C c.1000G>C (p.Val334Leu) c.955G>C (p.Val319Leu) c.424+1399G>C c.733G>C (p.Val245Leu) c.*810G>C (n.*810G>C) | |
| X | g.48904993C>T | CA412894831 | SLC35A2 | c.916G>A (p.Val306Met) c.355-101G>A (n.355-101G>A) c.427-101G>A (n.427-101G>A) c.478G>A c.1000G>A (p.Val334Met) c.955G>A (p.Val319Met) c.424+1399G>A c.733G>A (p.Val245Met) c.*810G>A (n.*810G>A) | |
| X | g.48904994A>C | CA412894837 | SLC35A2 | c.915T>G (p.Ile305Met) c.355-102T>G (n.355-102T>G) c.427-102T>G (n.427-102T>G) c.477T>G c.999T>G (p.Ile333Met) c.954T>G (p.Ile318Met) c.424+1398T>G c.732T>G (p.Ile244Met) c.*809T>G (n.*809T>G) | |
| X | g.48904994A>G | CA516359900 | SLC35A2 | c.915T>C (p.Ile305=) c.355-102T>C (n.355-102T>C) c.427-102T>C (n.427-102T>C) c.477T>C c.999T>C (p.Ile333=) c.954T>C (p.Ile318=) c.424+1398T>C c.732T>C (p.Ile244=) c.*809T>C (n.*809T>C) | |
| X | g.48904994A>T | CA516359901 | SLC35A2 | c.915T>A (p.Ile305=) c.355-102T>A (n.355-102T>A) c.427-102T>A (n.427-102T>A) c.477T>A c.999T>A (p.Ile333=) c.954T>A (p.Ile318=) c.424+1398T>A c.732T>A (p.Ile244=) c.*809T>A (n.*809T>A) |