Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.48904529_48904813delinsCCTCCCG | CA2573055342 | SLC35A2 | c.1096_1163+217delinsCGGGAGG c.434_*61delinsCGGGAGG (n.[c.434_*61delinsCGGGAGG;Arg145ProfsTer?]) c.1096_*198delinsCGGGAGG (n.[c.1096_*198delinsCGGGAGG;Gly366ArgfsTer11]) c.506_573+217delinsCGGGAGG c.658_942delinsCGGGAGG c.506_*61delinsCGGGAGG (n.[c.506_*61delinsCGGGAGG;Arg169ProfsTer?]) c.1180_*198delinsCGGGAGG (n.[c.1180_*198delinsCGGGAGG;Gly394ArgfsTer11]) c.1135_*198delinsCGGGAGG (n.[c.1135_*198delinsCGGGAGG;Gly379ArgfsTer11]) c.425-1348_425-1064delinsCGGGAGG c.913_*198delinsCGGGAGG (n.[c.913_*198delinsCGGGAGG;Gly305ArgfsTer11]) c.*990_*1274delinsCGGGAGG (n.*990_*1274delinsCGGGAGG) | ClinVar dbSNP |
X | g.48904796_48904798del | CA2693659122 | SLC35A2 | c.1112_1114del (p.Pro371del) c.450_452del (p.Ala151del) c.522_524del (p.Ala175del) c.674_676del c.1196_1198del (p.Pro399del) c.1151_1153del (p.Pro384del) c.425-1332_425-1330del c.929_931del (p.Pro310del) c.*1006_*1008del (n.*1006_*1008del) | gnomAD v4 |
X | g.48904798G>A | CA412894083 | SLC35A2 | c.1111C>T (p.Pro371Ser) c.449C>T (p.Thr150Ile) c.521C>T (p.Thr174Ile) c.673C>T c.1195C>T (p.Pro399Ser) c.1150C>T (p.Pro384Ser) c.425-1333C>T c.928C>T (p.Pro310Ser) c.*1005C>T (n.*1005C>T) | COSMIC COSMIC COSMIC COSMIC |
X | g.48904798G>C | CA412894084 | SLC35A2 | c.1111C>G (p.Pro371Ala) c.449C>G (p.Thr150Ser) c.521C>G (p.Thr174Ser) c.673C>G c.1195C>G (p.Pro399Ala) c.1150C>G (p.Pro384Ala) c.425-1333C>G c.928C>G (p.Pro310Ala) c.*1005C>G (n.*1005C>G) | |
X | g.48904798G>T | CA412894085 | SLC35A2 | c.1111C>A (p.Pro371Thr) c.449C>A (p.Thr150Asn) c.521C>A (p.Thr174Asn) c.673C>A c.1195C>A (p.Pro399Thr) c.1150C>A (p.Pro384Thr) c.425-1333C>A c.928C>A (p.Pro310Thr) c.*1005C>A (n.*1005C>A) | |
X | g.48904799T>A | CA412894086 | SLC35A2 | c.1110A>T (p.Pro370=) c.448A>T (p.Thr150Ser) c.520A>T (p.Thr174Ser) c.672A>T c.1194A>T (p.Pro398=) c.1149A>T (p.Pro383=) c.425-1334A>T c.927A>T (p.Pro309=) c.*1004A>T (n.*1004A>T) | ClinVar |
X | g.48904799T>C | CA10406057 | SLC35A2 | c.1110A>G (p.Pro370=) c.448A>G (p.Thr150Ala) c.520A>G (p.Thr174Ala) c.672A>G c.1194A>G (p.Pro398=) c.1149A>G (p.Pro383=) c.425-1334A>G c.927A>G (p.Pro309=) c.*1004A>G (n.*1004A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904799T>G | CA412894087 | SLC35A2 | c.1110A>C (p.Pro370=) c.448A>C (p.Thr150Pro) c.520A>C (p.Thr174Pro) c.672A>C c.1194A>C (p.Pro398=) c.1149A>C (p.Pro383=) c.425-1334A>C c.927A>C (p.Pro309=) c.*1004A>C (n.*1004A>C) | |
X | g.48904799T= | CA2428428778 | SLC35A2 | c.1110A= (p.Pro370=) c.448A= (p.Thr150=) c.520A= (p.Thr174=) c.672A= c.1194A= (p.Pro398=) c.1149A= (p.Pro383=) c.425-1334A= c.927A= (p.Pro309=) c.*1004A= (n.*1004A=) | |
X | g.48904800G>A | CA412894088 | SLC35A2 | c.1109C>T (p.Pro370Leu) c.447C>T (p.Thr149=) c.519C>T (p.Thr173=) c.671C>T c.1193C>T (p.Pro398Leu) c.1148C>T (p.Pro383Leu) c.425-1335C>T c.926C>T (p.Pro309Leu) c.*1003C>T (n.*1003C>T) | |
X | g.48904800G>C | CA412894089 | SLC35A2 | c.1109C>G (p.Pro370Arg) c.447C>G (p.Thr149=) c.519C>G (p.Thr173=) c.671C>G c.1193C>G (p.Pro398Arg) c.1148C>G (p.Pro383Arg) c.425-1335C>G c.926C>G (p.Pro309Arg) c.*1003C>G (n.*1003C>G) | |
X | g.48904800G>T | CA412894090 | SLC35A2 | c.1109C>A (p.Pro370Gln) c.447C>A (p.Thr149=) c.519C>A (p.Thr173=) c.671C>A c.1193C>A (p.Pro398Gln) c.1148C>A (p.Pro383Gln) c.425-1335C>A c.926C>A (p.Pro309Gln) c.*1003C>A (n.*1003C>A) | |
X | g.48904801G>A | CA412894091 | SLC35A2 | c.1108C>T (p.Pro370Ser) c.446C>T (p.Thr149Ile) c.518C>T (p.Thr173Ile) c.670C>T c.1192C>T (p.Pro398Ser) c.1147C>T (p.Pro383Ser) c.425-1336C>T c.925C>T (p.Pro309Ser) c.*1002C>T (n.*1002C>T) | |
X | g.48904801G>C | CA412894093 | SLC35A2 | c.1108C>G (p.Pro370Ala) c.446C>G (p.Thr149Ser) c.518C>G (p.Thr173Ser) c.670C>G c.1192C>G (p.Pro398Ala) c.1147C>G (p.Pro383Ala) c.425-1336C>G c.925C>G (p.Pro309Ala) c.*1002C>G (n.*1002C>G) | |
X | g.48904801G>T | CA412894092 | SLC35A2 | c.1108C>A (p.Pro370Thr) c.446C>A (p.Thr149Asn) c.518C>A (p.Thr173Asn) c.670C>A c.1192C>A (p.Pro398Thr) c.1147C>A (p.Pro383Thr) c.425-1336C>A c.925C>A (p.Pro309Thr) c.*1002C>A (n.*1002C>A) | |
X | g.48904802T>A | CA412894094 | SLC35A2 | c.1107A>T (p.Pro369=) c.445A>T (p.Thr149Ser) c.517A>T (p.Thr173Ser) c.669A>T c.1191A>T (p.Pro397=) c.1146A>T (p.Pro382=) c.425-1337A>T c.924A>T (p.Pro308=) c.*1001A>T (n.*1001A>T) | |
X | g.48904802T>C | CA412894095 | SLC35A2 | c.1107A>G (p.Pro369=) c.445A>G (p.Thr149Ala) c.517A>G (p.Thr173Ala) c.669A>G c.1191A>G (p.Pro397=) c.1146A>G (p.Pro382=) c.425-1337A>G c.924A>G (p.Pro308=) c.*1001A>G (n.*1001A>G) | |
X | g.48904802T>G | CA412894096 | SLC35A2 | c.1107A>C (p.Pro369=) c.445A>C (p.Thr149Pro) c.517A>C (p.Thr173Pro) c.669A>C c.1191A>C (p.Pro397=) c.1146A>C (p.Pro382=) c.425-1337A>C c.924A>C (p.Pro308=) c.*1001A>C (n.*1001A>C) | |
X | g.48904803G>A | CA412894097 | SLC35A2 | c.1106C>T (p.Pro369Leu) c.444C>T (p.Thr148=) c.516C>T (p.Thr172=) c.668C>T c.1190C>T (p.Pro397Leu) c.1145C>T (p.Pro382Leu) c.425-1338C>T c.923C>T (p.Pro308Leu) c.*1000C>T (n.*1000C>T) | |
X | g.48904803G>C | CA412894098 | SLC35A2 | c.1106C>G (p.Pro369Arg) c.444C>G (p.Thr148=) c.516C>G (p.Thr172=) c.668C>G c.1190C>G (p.Pro397Arg) c.1145C>G (p.Pro382Arg) c.425-1338C>G c.923C>G (p.Pro308Arg) c.*1000C>G (n.*1000C>G) | |
X | g.48904803G>T | CA412894099 | SLC35A2 | c.1106C>A (p.Pro369Gln) c.444C>A (p.Thr148=) c.516C>A (p.Thr172=) c.668C>A c.1190C>A (p.Pro397Gln) c.1145C>A (p.Pro382Gln) c.425-1338C>A c.923C>A (p.Pro308Gln) c.*1000C>A (n.*1000C>A) | |
X | g.48904804G>A | CA412894100 | SLC35A2 | c.1105C>T (p.Pro369Ser) c.443C>T (p.Thr148Ile) c.515C>T (p.Thr172Ile) c.667C>T c.1189C>T (p.Pro397Ser) c.1144C>T (p.Pro382Ser) c.425-1339C>T c.922C>T (p.Pro308Ser) c.*999C>T (n.*999C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.48904804G>C | CA412894101 | SLC35A2 | c.1105C>G (p.Pro369Ala) c.443C>G (p.Thr148Ser) c.515C>G (p.Thr172Ser) c.667C>G c.1189C>G (p.Pro397Ala) c.1144C>G (p.Pro382Ala) c.425-1339C>G c.922C>G (p.Pro308Ala) c.*999C>G (n.*999C>G) | |
X | g.48904804G= | CA2428428779 | SLC35A2 | c.1105C= (p.Pro369=) c.443C= (p.Thr148=) c.515C= (p.Thr172=) c.667C= c.1189C= (p.Pro397=) c.1144C= (p.Pro382=) c.425-1339C= c.922C= (p.Pro308=) c.*999C= (n.*999C=) | |
X | g.48904804G>T | CA412894102 | SLC35A2 | c.1105C>A (p.Pro369Thr) c.443C>A (p.Thr148Asn) c.515C>A (p.Thr172Asn) c.667C>A c.1189C>A (p.Pro397Thr) c.1144C>A (p.Pro382Thr) c.425-1339C>A c.922C>A (p.Pro308Thr) c.*999C>A (n.*999C>A) | |
X | g.48904805T>A | CA412894104 | SLC35A2 | c.1104A>T (p.Pro368=) c.442A>T (p.Thr148Ser) c.514A>T (p.Thr172Ser) c.666A>T c.1188A>T (p.Pro396=) c.1143A>T (p.Pro381=) c.425-1340A>T c.921A>T (p.Pro307=) c.*998A>T (n.*998A>T) | |
X | g.48904805T>C | CA412894105 | SLC35A2 | c.1104A>G (p.Pro368=) c.442A>G (p.Thr148Ala) c.514A>G (p.Thr172Ala) c.666A>G c.1188A>G (p.Pro396=) c.1143A>G (p.Pro381=) c.425-1340A>G c.921A>G (p.Pro307=) c.*998A>G (n.*998A>G) | |
X | g.48904805T>G | CA412894103 | SLC35A2 | c.1104A>C (p.Pro368=) c.442A>C (p.Thr148Pro) c.514A>C (p.Thr172Pro) c.666A>C c.1188A>C (p.Pro396=) c.1143A>C (p.Pro381=) c.425-1340A>C c.921A>C (p.Pro307=) c.*998A>C (n.*998A>C) | |
X | g.48904806G>A | CA412894106 | SLC35A2 | c.1103C>T (p.Pro368Leu) c.441C>T (p.Ala147=) c.513C>T (p.Ala171=) c.665C>T c.1187C>T (p.Pro396Leu) c.1142C>T (p.Pro381Leu) c.425-1341C>T c.920C>T (p.Pro307Leu) c.*997C>T (n.*997C>T) | |
X | g.48904806G>C | CA412894107 | SLC35A2 | c.1103C>G (p.Pro368Arg) c.441C>G (p.Ala147=) c.513C>G (p.Ala171=) c.665C>G c.1187C>G (p.Pro396Arg) c.1142C>G (p.Pro381Arg) c.425-1341C>G c.920C>G (p.Pro307Arg) c.*997C>G (n.*997C>G) | |
X | g.48904806G>T | CA412894108 | SLC35A2 | c.1103C>A (p.Pro368Gln) c.441C>A (p.Ala147=) c.513C>A (p.Ala171=) c.665C>A c.1187C>A (p.Pro396Gln) c.1142C>A (p.Pro381Gln) c.425-1341C>A c.920C>A (p.Pro307Gln) c.*997C>A (n.*997C>A) | |
X | g.48904807G>A | CA412894109 | SLC35A2 | c.1102C>T (p.Pro368Ser) c.440C>T (p.Ala147Val) c.512C>T (p.Ala171Val) c.664C>T c.1186C>T (p.Pro396Ser) c.1141C>T (p.Pro381Ser) c.425-1342C>T c.919C>T (p.Pro307Ser) c.*996C>T (n.*996C>T) | dbSNP |
X | g.48904807G>C | CA412894110 | SLC35A2 | c.1102C>G (p.Pro368Ala) c.440C>G (p.Ala147Gly) c.512C>G (p.Ala171Gly) c.664C>G c.1186C>G (p.Pro396Ala) c.1141C>G (p.Pro381Ala) c.425-1342C>G c.919C>G (p.Pro307Ala) c.*996C>G (n.*996C>G) | |
X | g.48904807G= | CA2428428780 | SLC35A2 | c.1102C= (p.Pro368=) c.440C= (p.Ala147=) c.512C= (p.Ala171=) c.664C= c.1186C= (p.Pro396=) c.1141C= (p.Pro381=) c.425-1342C= c.919C= (p.Pro307=) c.*996C= (n.*996C=) | |
X | g.48904807G>T | CA412894111 | SLC35A2 | c.1102C>A (p.Pro368Thr) c.440C>A (p.Ala147Asp) c.512C>A (p.Ala171Asp) c.664C>A c.1186C>A (p.Pro396Thr) c.1141C>A (p.Pro381Thr) c.425-1342C>A c.919C>A (p.Pro307Thr) c.*996C>A (n.*996C>A) | |
X | g.48904808C>A | CA412894112 | SLC35A2 | c.1101G>T (p.Gln367His) c.439G>T (p.Ala147Ser) c.511G>T (p.Ala171Ser) c.663G>T c.1185G>T (p.Gln395His) c.1140G>T (p.Gln380His) c.425-1343G>T c.918G>T (p.Gln306His) c.*995G>T (n.*995G>T) | |
X | g.48904808C>G | CA412894113 | SLC35A2 | c.1101G>C (p.Gln367His) c.439G>C (p.Ala147Pro) c.511G>C (p.Ala171Pro) c.663G>C c.1185G>C (p.Gln395His) c.1140G>C (p.Gln380His) c.425-1343G>C c.918G>C (p.Gln306His) c.*995G>C (n.*995G>C) | |
X | g.48904808C>T | CA412894114 | SLC35A2 | c.1101G>A (p.Gln367=) c.439G>A (p.Ala147Thr) c.511G>A (p.Ala171Thr) c.663G>A c.1185G>A (p.Gln395=) c.1140G>A (p.Gln380=) c.425-1343G>A c.918G>A (p.Gln306=) c.*995G>A (n.*995G>A) | |
X | g.48904809T>A | CA412894115 | SLC35A2 | c.1100A>T (p.Gln367Leu) c.438A>T (p.Ala146=) c.510A>T (p.Ala170=) c.662A>T c.1184A>T (p.Gln395Leu) c.1139A>T (p.Gln380Leu) c.425-1344A>T c.917A>T (p.Gln306Leu) c.*994A>T (n.*994A>T) | |
X | g.48904809T>C | CA10406058 | SLC35A2 | c.1100A>G (p.Gln367Arg) c.438A>G (p.Ala146=) c.510A>G (p.Ala170=) c.662A>G c.1184A>G (p.Gln395Arg) c.1139A>G (p.Gln380Arg) c.425-1344A>G c.917A>G (p.Gln306Arg) c.*994A>G (n.*994A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904809T>G | CA412894116 | SLC35A2 | c.1100A>C (p.Gln367Pro) c.438A>C (p.Ala146=) c.510A>C (p.Ala170=) c.662A>C c.1184A>C (p.Gln395Pro) c.1139A>C (p.Gln380Pro) c.425-1344A>C c.917A>C (p.Gln306Pro) c.*994A>C (n.*994A>C) | |
X | g.48904809T= | CA2428428781 | SLC35A2 | c.1100A= (p.Gln367=) c.438A= (p.Ala146=) c.510A= (p.Ala170=) c.662A= c.1184A= (p.Gln395=) c.1139A= (p.Gln380=) c.425-1344A= c.917A= (p.Gln306=) c.*994A= (n.*994A=) | |
X | g.48904810G>A | CA412894118 | SLC35A2 | c.1099C>T (p.Gln367Ter) c.437C>T (p.Ala146Val) c.509C>T (p.Ala170Val) c.661C>T c.1183C>T (p.Gln395Ter) c.1138C>T (p.Gln380Ter) c.425-1345C>T c.916C>T (p.Gln306Ter) c.*993C>T (n.*993C>T) | |
X | g.48904810G>C | CA412894119 | SLC35A2 | c.1099C>G (p.Gln367Glu) c.437C>G (p.Ala146Gly) c.509C>G (p.Ala170Gly) c.661C>G c.1183C>G (p.Gln395Glu) c.1138C>G (p.Gln380Glu) c.425-1345C>G c.916C>G (p.Gln306Glu) c.*993C>G (n.*993C>G) | |
X | g.48904810G= | CA2428428782 | SLC35A2 | c.1099C= (p.Gln367=) c.437C= (p.Ala146=) c.509C= (p.Ala170=) c.661C= c.1183C= (p.Gln395=) c.1138C= (p.Gln380=) c.425-1345C= c.916C= (p.Gln306=) c.*993C= (n.*993C=) | |
X | g.48904810G>T | CA412894117 | SLC35A2 | c.1099C>A (p.Gln367Lys) c.437C>A (p.Ala146Glu) c.509C>A (p.Ala170Glu) c.661C>A c.1183C>A (p.Gln395Lys) c.1138C>A (p.Gln380Lys) c.425-1345C>A c.916C>A (p.Gln306Lys) c.*993C>A (n.*993C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.48904811C>A | CA412894120 | SLC35A2 | c.1098G>T (p.Gly366=) c.436G>T (p.Ala146Ser) c.508G>T (p.Ala170Ser) c.660G>T c.1182G>T (p.Gly394=) c.1137G>T (p.Gly379=) c.425-1346G>T c.915G>T (p.Gly305=) c.*992G>T (n.*992G>T) | |
X | g.48904811C>G | CA412894121 | SLC35A2 | c.1098G>C (p.Gly366=) c.436G>C (p.Ala146Pro) c.508G>C (p.Ala170Pro) c.660G>C c.1182G>C (p.Gly394=) c.1137G>C (p.Gly379=) c.425-1346G>C c.915G>C (p.Gly305=) c.*992G>C (n.*992G>C) | |
X | g.48904811C>T | CA412894122 | SLC35A2 | c.1098G>A (p.Gly366=) c.436G>A (p.Ala146Thr) c.508G>A (p.Ala170Thr) c.660G>A c.1182G>A (p.Gly394=) c.1137G>A (p.Gly379=) c.425-1346G>A c.915G>A (p.Gly305=) c.*992G>A (n.*992G>A) | gnomAD v4 |
X | g.48904812C>A | CA412894123 | SLC35A2 | c.1097G>T (p.Gly366Val) c.435G>T (p.Arg145=) c.507G>T (p.Arg169=) c.659G>T c.1181G>T (p.Gly394Val) c.1136G>T (p.Gly379Val) c.425-1347G>T c.914G>T (p.Gly305Val) c.*991G>T (n.*991G>T) | |
X | g.48904812C= | CA2428428783 | SLC35A2 | c.1097G= (p.Gly366=) c.435G= (p.Arg145=) c.507G= (p.Arg169=) c.659G= c.1181G= (p.Gly394=) c.1136G= (p.Gly379=) c.425-1347G= c.914G= (p.Gly305=) c.*991G= (n.*991G=) | |
X | g.48904812C>G | CA412894124 | SLC35A2 | c.1097G>C (p.Gly366Ala) c.435G>C (p.Arg145=) c.507G>C (p.Arg169=) c.659G>C c.1181G>C (p.Gly394Ala) c.1136G>C (p.Gly379Ala) c.425-1347G>C c.914G>C (p.Gly305Ala) c.*991G>C (n.*991G>C) | |
X | g.48904812C>T | CA412894125 | SLC35A2 | c.1097G>A (p.Gly366Glu) c.435G>A (p.Arg145=) c.507G>A (p.Arg169=) c.659G>A c.1181G>A (p.Gly394Glu) c.1136G>A (p.Gly379Glu) c.425-1347G>A c.914G>A (p.Gly305Glu) c.*991G>A (n.*991G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.48904813C>A | CA412894126 | SLC35A2 | c.1096G>T (p.Gly366Trp) c.434G>T (p.Arg145Leu) c.506G>T (p.Arg169Leu) c.658G>T c.1180G>T (p.Gly394Trp) c.1135G>T (p.Gly379Trp) c.425-1348G>T c.913G>T (p.Gly305Trp) c.*990G>T (n.*990G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.48904813C= | CA2428428784 | SLC35A2 | c.1096G= (p.Gly366=) c.434G= (p.Arg145=) c.506G= (p.Arg169=) c.658G= c.1180G= (p.Gly394=) c.1135G= (p.Gly379=) c.425-1348G= c.913G= (p.Gly305=) c.*990G= (n.*990G=) | |
X | g.48904813C>G | CA10406059 | SLC35A2 | c.1096G>C (p.Gly366Arg) c.434G>C (p.Arg145Pro) c.506G>C (p.Arg169Pro) c.658G>C c.1180G>C (p.Gly394Arg) c.1135G>C (p.Gly379Arg) c.425-1348G>C c.913G>C (p.Gly305Arg) c.*990G>C (n.*990G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48904813C>T | CA329098571 | SLC35A2 | c.1096G>A (p.Gly366Arg) c.434G>A (p.Arg145Gln) c.506G>A (p.Arg169Gln) c.658G>A c.1180G>A (p.Gly394Arg) c.1135G>A (p.Gly379Arg) c.425-1348G>A c.913G>A (p.Gly305Arg) c.*990G>A (n.*990G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.48904814G>A | CA412894127 | SLC35A2 | c.1095C>T (p.Pro365=) c.433C>T (p.Arg145Trp) c.505C>T (p.Arg169Trp) c.657C>T c.1179C>T (p.Pro393=) c.1134C>T (p.Pro378=) c.425-1349C>T c.912C>T (p.Pro304=) c.*989C>T (n.*989C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.48904814G>C | CA412894128 | SLC35A2 | c.1095C>G (p.Pro365=) c.433C>G (p.Arg145Gly) c.505C>G (p.Arg169Gly) c.657C>G c.1179C>G (p.Pro393=) c.1134C>G (p.Pro378=) c.425-1349C>G c.912C>G (p.Pro304=) c.*989C>G (n.*989C>G) | |
X | g.48904814G= | CA2428428785 | SLC35A2 | c.1095C= (p.Pro365=) c.433C= (p.Arg145=) c.505C= (p.Arg169=) c.657C= c.1179C= (p.Pro393=) c.1134C= (p.Pro378=) c.425-1349C= c.912C= (p.Pro304=) c.*989C= (n.*989C=) | |
X | g.48904814G>T | CA516359899 | SLC35A2 | c.1095C>A (p.Pro365=) c.433C>A (p.Arg145=) c.505C>A (p.Arg169=) c.657C>A c.1179C>A (p.Pro393=) c.1134C>A (p.Pro378=) c.425-1349C>A c.912C>A (p.Pro304=) c.*989C>A (n.*989C>A) | |
X | g.48904815G>A | CA412894129 | SLC35A2 | c.1094C>T (p.Pro365Leu) c.432C>T (p.Ser144=) c.504C>T (p.Ser168=) c.656C>T c.1178C>T (p.Pro393Leu) c.1133C>T (p.Pro378Leu) c.425-1350C>T c.911C>T (p.Pro304Leu) c.*988C>T (n.*988C>T) | |
X | g.48904815G>C | CA412894130 | SLC35A2 | c.1094C>G (p.Pro365Arg) c.432C>G (p.Ser144=) c.504C>G (p.Ser168=) c.656C>G c.1178C>G (p.Pro393Arg) c.1133C>G (p.Pro378Arg) c.425-1350C>G c.911C>G (p.Pro304Arg) c.*988C>G (n.*988C>G) | |
X | g.48904815G>T | CA412894131 | SLC35A2 | c.1094C>A (p.Pro365His) c.432C>A (p.Ser144=) c.504C>A (p.Ser168=) c.656C>A c.1178C>A (p.Pro393His) c.1133C>A (p.Pro378His) c.425-1350C>A c.911C>A (p.Pro304His) c.*988C>A (n.*988C>A) | |
X | g.48904816G>A | CA412894133 | SLC35A2 | c.1093C>T (p.Pro365Ser) c.431C>T (p.Ser144Phe) c.503C>T (p.Ser168Phe) c.655C>T c.1177C>T (p.Pro393Ser) c.1132C>T (p.Pro378Ser) c.425-1351C>T c.910C>T (p.Pro304Ser) c.*987C>T (n.*987C>T) | |
X | g.48904816G>C | CA412894134 | SLC35A2 | c.1093C>G (p.Pro365Ala) c.431C>G (p.Ser144Cys) c.503C>G (p.Ser168Cys) c.655C>G c.1177C>G (p.Pro393Ala) c.1132C>G (p.Pro378Ala) c.425-1351C>G c.910C>G (p.Pro304Ala) c.*987C>G (n.*987C>G) | |
X | g.48904816G>T | CA412894132 | SLC35A2 | c.1093C>A (p.Pro365Thr) c.431C>A (p.Ser144Tyr) c.503C>A (p.Ser168Tyr) c.655C>A c.1177C>A (p.Pro393Thr) c.1132C>A (p.Pro378Thr) c.425-1351C>A c.910C>A (p.Pro304Thr) c.*987C>A (n.*987C>A) | |
X | g.48904817del | CA2840092298 | SLC35A2 | c.1092del (p.Gln367SerfsTer27) c.430del (p.Ser144ProfsTer30) c.1092del (p.Gln367SerfsTer26) c.502del (p.Ser168ProfsTer?) c.654del c.502del (p.Ser168ProfsTer30) c.1176del (p.Gln395SerfsTer26) c.1131del (p.Gln380SerfsTer26) c.425-1352del c.909del (p.Gln306SerfsTer26) c.*986del (n.*986del) | |
X | g.48904817A>C | CA412894135 | SLC35A2 | c.1092T>G (p.Pro364=) c.430T>G (p.Ser144Ala) c.502T>G (p.Ser168Ala) c.654T>G c.1176T>G (p.Pro392=) c.1131T>G (p.Pro377=) c.425-1352T>G c.909T>G (p.Pro303=) c.*986T>G (n.*986T>G) | |
X | g.48904817A>G | CA412894136 | SLC35A2 | c.1092T>C (p.Pro364=) c.430T>C (p.Ser144Pro) c.502T>C (p.Ser168Pro) c.654T>C c.1176T>C (p.Pro392=) c.1131T>C (p.Pro377=) c.425-1352T>C c.909T>C (p.Pro303=) c.*986T>C (n.*986T>C) | |
X | g.48904817A>T | CA412894137 | SLC35A2 | c.1092T>A (p.Pro364=) c.430T>A (p.Ser144Thr) c.502T>A (p.Ser168Thr) c.654T>A c.1176T>A (p.Pro392=) c.1131T>A (p.Pro377=) c.425-1352T>A c.909T>A (p.Pro303=) c.*986T>A (n.*986T>A) | |
X | g.48904818G>A | CA412894138 | SLC35A2 | c.1091C>T (p.Pro364Leu) c.429C>T (p.Ala143=) c.501C>T (p.Ala167=) c.653C>T c.1175C>T (p.Pro392Leu) c.1130C>T (p.Pro377Leu) c.425-1353C>T c.908C>T (p.Pro303Leu) c.*985C>T (n.*985C>T) | dbSNP gnomAD v4 |
X | g.48904818G>C | CA412894139 | SLC35A2 | c.1091C>G (p.Pro364Arg) c.429C>G (p.Ala143=) c.501C>G (p.Ala167=) c.653C>G c.1175C>G (p.Pro392Arg) c.1130C>G (p.Pro377Arg) c.425-1353C>G c.908C>G (p.Pro303Arg) c.*985C>G (n.*985C>G) | |
X | g.48904818G= | CA2428428786 | SLC35A2 | c.1091C= (p.Pro364=) c.429C= (p.Ala143=) c.501C= (p.Ala167=) c.653C= c.1175C= (p.Pro392=) c.1130C= (p.Pro377=) c.425-1353C= c.908C= (p.Pro303=) c.*985C= (n.*985C=) | |
X | g.48904818G>T | CA412894140 | SLC35A2 | c.1091C>A (p.Pro364His) c.429C>A (p.Ala143=) c.501C>A (p.Ala167=) c.653C>A c.1175C>A (p.Pro392His) c.1130C>A (p.Pro377His) c.425-1353C>A c.908C>A (p.Pro303His) c.*985C>A (n.*985C>A) | |
X | g.48904819G>A | CA412894143 | SLC35A2 | c.1090C>T (p.Pro364Ser) c.428C>T (p.Ala143Val) c.500C>T (p.Ala167Val) c.652C>T c.1174C>T (p.Pro392Ser) c.1129C>T (p.Pro377Ser) c.425-1354C>T c.907C>T (p.Pro303Ser) c.*984C>T (n.*984C>T) | ClinVar gnomAD v4 |
X | g.48904819G>C | CA412894141 | SLC35A2 | c.1090C>G (p.Pro364Ala) c.428C>G (p.Ala143Gly) c.500C>G (p.Ala167Gly) c.652C>G c.1174C>G (p.Pro392Ala) c.1129C>G (p.Pro377Ala) c.425-1354C>G c.907C>G (p.Pro303Ala) c.*984C>G (n.*984C>G) | |
X | g.48904819G>T | CA412894142 | SLC35A2 | c.1090C>A (p.Pro364Thr) c.428C>A (p.Ala143Asp) c.500C>A (p.Ala167Asp) c.652C>A c.1174C>A (p.Pro392Thr) c.1129C>A (p.Pro377Thr) c.425-1354C>A c.907C>A (p.Pro303Thr) c.*984C>A (n.*984C>A) | |
X | g.48904820C>A | CA412894144 | SLC35A2 | c.1089G>T (p.Gln363His) c.427G>T (p.Ala143Ser) c.499G>T (p.Ala167Ser) c.651G>T c.1173G>T (p.Gln391His) c.1128G>T (p.Gln376His) c.425-1355G>T c.906G>T (p.Gln302His) c.*983G>T (n.*983G>T) | |
X | g.48904820C>G | CA412894145 | SLC35A2 | c.1089G>C (p.Gln363His) c.427G>C (p.Ala143Pro) c.499G>C (p.Ala167Pro) c.651G>C c.1173G>C (p.Gln391His) c.1128G>C (p.Gln376His) c.425-1355G>C c.906G>C (p.Gln302His) c.*983G>C (n.*983G>C) | |
X | g.48904820C>T | CA412894146 | SLC35A2 | c.1089G>A (p.Gln363=) c.427G>A (p.Ala143Thr) c.499G>A (p.Ala167Thr) c.651G>A c.1173G>A (p.Gln391=) c.1128G>A (p.Gln376=) c.425-1355G>A c.906G>A (p.Gln302=) c.*983G>A (n.*983G>A) | |
X | g.48904821T>A | CA412894147 | SLC35A2 | c.1088A>T (p.Gln363Leu) c.426A>T (p.Ala142=) c.498A>T (p.Ala166=) c.650A>T c.1172A>T (p.Gln391Leu) c.1127A>T (p.Gln376Leu) c.425-1356A>T c.905A>T (p.Gln302Leu) c.*982A>T (n.*982A>T) | |
X | g.48904821T>C | CA412894148 | SLC35A2 | c.1088A>G (p.Gln363Arg) c.426A>G (p.Ala142=) c.498A>G (p.Ala166=) c.650A>G c.1172A>G (p.Gln391Arg) c.1127A>G (p.Gln376Arg) c.425-1356A>G c.905A>G (p.Gln302Arg) c.*982A>G (n.*982A>G) | |
X | g.48904821T>G | CA412894149 | SLC35A2 | c.1088A>C (p.Gln363Pro) c.426A>C (p.Ala142=) c.498A>C (p.Ala166=) c.650A>C c.1172A>C (p.Gln391Pro) c.1127A>C (p.Gln376Pro) c.425-1356A>C c.905A>C (p.Gln302Pro) c.*982A>C (n.*982A>C) | |
X | g.48904822G>A | CA412894150 | SLC35A2 | c.1087C>T (p.Gln363Ter) c.425C>T (p.Ala142Val) c.497C>T (p.Ala166Val) c.649C>T c.1171C>T (p.Gln391Ter) c.1126C>T (p.Gln376Ter) c.425-1357C>T c.904C>T (p.Gln302Ter) c.*981C>T (n.*981C>T) | |
X | g.48904822G>C | CA412894152 | SLC35A2 | c.1087C>G (p.Gln363Glu) c.425C>G (p.Ala142Gly) c.497C>G (p.Ala166Gly) c.649C>G c.1171C>G (p.Gln391Glu) c.1126C>G (p.Gln376Glu) c.425-1357C>G c.904C>G (p.Gln302Glu) c.*981C>G (n.*981C>G) | |
X | g.48904822G>T | CA412894151 | SLC35A2 | c.1087C>A (p.Gln363Lys) c.425C>A (p.Ala142Glu) c.497C>A (p.Ala166Glu) c.649C>A c.1171C>A (p.Gln391Lys) c.1126C>A (p.Gln376Lys) c.425-1357C>A c.904C>A (p.Gln302Lys) c.*981C>A (n.*981C>A) | |
X | g.48904823C>A | CA412894153 | SLC35A2 | c.1086G>T (p.Gln362His) c.424G>T (p.Ala142Ser) c.496G>T (p.Ala166Ser) c.648G>T c.1170G>T (p.Gln390His) c.1125G>T (p.Gln375His) c.425-1358G>T c.903G>T (p.Gln301His) c.*980G>T (n.*980G>T) | |
X | g.48904823C>G | CA412894154 | SLC35A2 | c.1086G>C (p.Gln362His) c.424G>C (p.Ala142Pro) c.496G>C (p.Ala166Pro) c.648G>C c.1170G>C (p.Gln390His) c.1125G>C (p.Gln375His) c.425-1358G>C c.903G>C (p.Gln301His) c.*980G>C (n.*980G>C) | |
X | g.48904823C>T | CA412894155 | SLC35A2 | c.1086G>A (p.Gln362=) c.424G>A (p.Ala142Thr) c.496G>A (p.Ala166Thr) c.648G>A c.1170G>A (p.Gln390=) c.1125G>A (p.Gln375=) c.425-1358G>A c.903G>A (p.Gln301=) c.*980G>A (n.*980G>A) | |
X | g.48904824T>A | CA412894156 | SLC35A2 | c.1085A>T (p.Gln362Leu) c.423A>T (p.Pro141=) c.495A>T (p.Pro165=) c.647A>T c.1169A>T (p.Gln390Leu) c.1124A>T (p.Gln375Leu) c.425-1359A>T c.902A>T (p.Gln301Leu) c.*979A>T (n.*979A>T) | |
X | g.48904824T>C | CA412894157 | SLC35A2 | c.1085A>G (p.Gln362Arg) c.423A>G (p.Pro141=) c.495A>G (p.Pro165=) c.647A>G c.1169A>G (p.Gln390Arg) c.1124A>G (p.Gln375Arg) c.425-1359A>G c.902A>G (p.Gln301Arg) c.*979A>G (n.*979A>G) | |
X | g.48904824T>G | CA412894158 | SLC35A2 | c.1085A>C (p.Gln362Pro) c.423A>C (p.Pro141=) c.495A>C (p.Pro165=) c.647A>C c.1169A>C (p.Gln390Pro) c.1124A>C (p.Gln375Pro) c.425-1359A>C c.902A>C (p.Gln301Pro) c.*979A>C (n.*979A>C) | |
X | g.48904825G>A | CA412894159 | SLC35A2 | c.1084C>T (p.Gln362Ter) c.422C>T (p.Pro141Leu) c.494C>T (p.Pro165Leu) c.646C>T c.1168C>T (p.Gln390Ter) c.1123C>T (p.Gln375Ter) c.425-1360C>T c.901C>T (p.Gln301Ter) c.*978C>T (n.*978C>T) | |
X | g.48904825G>C | CA412894160 | SLC35A2 | c.1084C>G (p.Gln362Glu) c.422C>G (p.Pro141Arg) c.494C>G (p.Pro165Arg) c.646C>G c.1168C>G (p.Gln390Glu) c.1123C>G (p.Gln375Glu) c.425-1360C>G c.901C>G (p.Gln301Glu) c.*978C>G (n.*978C>G) | |
X | g.48904825G= | CA2428428787 | SLC35A2 | c.1084C= (p.Gln362=) c.422C= (p.Pro141=) c.494C= (p.Pro165=) c.646C= c.1168C= (p.Gln390=) c.1123C= (p.Gln375=) c.425-1360C= c.901C= (p.Gln301=) c.*978C= (n.*978C=) | |
X | g.48904825G>T | CA412894161 | SLC35A2 | c.1084C>A (p.Gln362Lys) c.422C>A (p.Pro141Gln) c.494C>A (p.Pro165Gln) c.646C>A c.1168C>A (p.Gln390Lys) c.1123C>A (p.Gln375Lys) c.425-1360C>A c.901C>A (p.Gln301Lys) c.*978C>A (n.*978C>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48904826G>A | CA412894162 | SLC35A2 | c.1083C>T (p.His361=) c.421C>T (p.Pro141Ser) c.493C>T (p.Pro165Ser) c.645C>T c.1167C>T (p.His389=) c.1122C>T (p.His374=) c.425-1361C>T c.900C>T (p.His300=) c.*977C>T (n.*977C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48904826G>C | CA412894163 | SLC35A2 | c.1083C>G (p.His361Gln) c.421C>G (p.Pro141Ala) c.493C>G (p.Pro165Ala) c.645C>G c.1167C>G (p.His389Gln) c.1122C>G (p.His374Gln) c.425-1361C>G c.900C>G (p.His300Gln) c.*977C>G (n.*977C>G) | |
X | g.48904826G= | CA2428428788 | SLC35A2 | c.1083C= (p.His361=) c.421C= (p.Pro141=) c.493C= (p.Pro165=) c.645C= c.1167C= (p.His389=) c.1122C= (p.His374=) c.425-1361C= c.900C= (p.His300=) c.*977C= (n.*977C=) | |
X | g.48904826G>T | CA412894164 | SLC35A2 | c.1083C>A (p.His361Gln) c.421C>A (p.Pro141Thr) c.493C>A (p.Pro165Thr) c.645C>A c.1167C>A (p.His389Gln) c.1122C>A (p.His374Gln) c.425-1361C>A c.900C>A (p.His300Gln) c.*977C>A (n.*977C>A) | |
X | g.48904827T>A | CA412894167 | SLC35A2 | c.1082A>T (p.His361Leu) c.420A>T (p.Ser140=) c.492A>T (p.Ser164=) c.644A>T c.1166A>T (p.His389Leu) c.1121A>T (p.His374Leu) c.425-1362A>T c.899A>T (p.His300Leu) c.*976A>T (n.*976A>T) | |
X | g.48904827T>C | CA412894165 | SLC35A2 | c.1082A>G (p.His361Arg) c.420A>G (p.Ser140=) c.492A>G (p.Ser164=) c.644A>G c.1166A>G (p.His389Arg) c.1121A>G (p.His374Arg) c.425-1362A>G c.899A>G (p.His300Arg) c.*976A>G (n.*976A>G) | |
X | g.48904827T>G | CA412894166 | SLC35A2 | c.1082A>C (p.His361Pro) c.420A>C (p.Ser140=) c.492A>C (p.Ser164=) c.644A>C c.1166A>C (p.His389Pro) c.1121A>C (p.His374Pro) c.425-1362A>C c.899A>C (p.His300Pro) c.*976A>C (n.*976A>C) | |
X | g.48904828G>A | CA412894168 | SLC35A2 | c.1081C>T (p.His361Tyr) c.419C>T (p.Ser140Leu) c.491C>T (p.Ser164Leu) c.643C>T c.1165C>T (p.His389Tyr) c.1120C>T (p.His374Tyr) c.425-1363C>T c.898C>T (p.His300Tyr) c.*975C>T (n.*975C>T) | |
X | g.48904828G>C | CA412894169 | SLC35A2 | c.1081C>G (p.His361Asp) c.419C>G (p.Ser140Ter) c.491C>G (p.Ser164Ter) c.643C>G c.1165C>G (p.His389Asp) c.1120C>G (p.His374Asp) c.425-1363C>G c.898C>G (p.His300Asp) c.*975C>G (n.*975C>G) | |
X | g.48904828G>T | CA412894170 | SLC35A2 | c.1081C>A (p.His361Asn) c.419C>A (p.Ser140Ter) c.491C>A (p.Ser164Ter) c.643C>A c.1165C>A (p.His389Asn) c.1120C>A (p.His374Asn) c.425-1363C>A c.898C>A (p.His300Asn) c.*975C>A (n.*975C>A) | |
X | g.48904829A>C | CA412894171 | SLC35A2 | c.1080T>G (p.Val360=) c.418T>G (p.Ser140Ala) c.490T>G (p.Ser164Ala) c.642T>G c.1164T>G (p.Val388=) c.1119T>G (p.Val373=) c.425-1364T>G c.897T>G (p.Val299=) c.*974T>G (n.*974T>G) | |
X | g.48904829A>G | CA412894172 | SLC35A2 | c.1080T>C (p.Val360=) c.418T>C (p.Ser140Pro) c.490T>C (p.Ser164Pro) c.642T>C c.1164T>C (p.Val388=) c.1119T>C (p.Val373=) c.425-1364T>C c.897T>C (p.Val299=) c.*974T>C (n.*974T>C) | |
X | g.48904829A>T | CA412894173 | SLC35A2 | c.1080T>A (p.Val360=) c.418T>A (p.Ser140Thr) c.490T>A (p.Ser164Thr) c.642T>A c.1164T>A (p.Val388=) c.1119T>A (p.Val373=) c.425-1364T>A c.897T>A (p.Val299=) c.*974T>A (n.*974T>A) | |
X | g.48904830A= | CA2428428789 | SLC35A2 | c.1079T= (p.Val360=) c.417T= (p.Arg139=) c.489T= (p.Arg163=) c.641T= c.1163T= (p.Val388=) c.1118T= (p.Val373=) c.425-1365T= c.896T= (p.Val299=) c.*973T= (n.*973T=) | |
X | g.48904830A>C | CA412894176 | SLC35A2 | c.1079T>G (p.Val360Gly) c.417T>G (p.Arg139=) c.489T>G (p.Arg163=) c.641T>G c.1163T>G (p.Val388Gly) c.1118T>G (p.Val373Gly) c.425-1365T>G c.896T>G (p.Val299Gly) c.*973T>G (n.*973T>G) | |
X | g.48904830A>G | CA412894175 | SLC35A2 | c.1079T>C (p.Val360Ala) c.417T>C (p.Arg139=) c.489T>C (p.Arg163=) c.641T>C c.1163T>C (p.Val388Ala) c.1118T>C (p.Val373Ala) c.425-1365T>C c.896T>C (p.Val299Ala) c.*973T>C (n.*973T>C) | dbSNP |
X | g.48904830A>T | CA412894174 | SLC35A2 | c.1079T>A (p.Val360Asp) c.417T>A (p.Arg139=) c.489T>A (p.Arg163=) c.641T>A c.1163T>A (p.Val388Asp) c.1118T>A (p.Val373Asp) c.425-1365T>A c.896T>A (p.Val299Asp) c.*973T>A (n.*973T>A) | |
X | g.48904831C>A | CA412894177 | SLC35A2 | c.1078G>T (p.Val360Phe) c.416G>T (p.Arg139Leu) c.488G>T (p.Arg163Leu) c.640G>T c.1162G>T (p.Val388Phe) c.1117G>T (p.Val373Phe) c.425-1366G>T c.895G>T (p.Val299Phe) c.*972G>T (n.*972G>T) | |
X | g.48904831C= | CA2428428790 | SLC35A2 | c.1078G= (p.Val360=) c.416G= (p.Arg139=) c.488G= (p.Arg163=) c.640G= c.1162G= (p.Val388=) c.1117G= (p.Val373=) c.425-1366G= c.895G= (p.Val299=) c.*972G= (n.*972G=) | |
X | g.48904831C>G | CA412894178 | SLC35A2 | c.1078G>C (p.Val360Leu) c.416G>C (p.Arg139Pro) c.488G>C (p.Arg163Pro) c.640G>C c.1162G>C (p.Val388Leu) c.1117G>C (p.Val373Leu) c.425-1366G>C c.895G>C (p.Val299Leu) c.*972G>C (n.*972G>C) | ClinVar |
X | g.48904831C>T | CA10406060 | SLC35A2 | c.1078G>A (p.Val360Ile) c.416G>A (p.Arg139His) c.488G>A (p.Arg163His) c.640G>A c.1162G>A (p.Val388Ile) c.1117G>A (p.Val373Ile) c.425-1366G>A c.895G>A (p.Val299Ile) c.*972G>A (n.*972G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904832G>A | CA412894179 | SLC35A2 | c.1077C>T (p.Cys359=) c.415C>T (p.Arg139Cys) c.487C>T (p.Arg163Cys) c.639C>T c.1161C>T (p.Cys387=) c.1116C>T (p.Cys372=) c.425-1367C>T c.894C>T (p.Cys298=) c.*971C>T (n.*971C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.48904832G>C | CA412894180 | SLC35A2 | c.1077C>G (p.Cys359Trp) c.415C>G (p.Arg139Gly) c.487C>G (p.Arg163Gly) c.639C>G c.1161C>G (p.Cys387Trp) c.1116C>G (p.Cys372Trp) c.425-1367C>G c.894C>G (p.Cys298Trp) c.*971C>G (n.*971C>G) | |
X | g.48904832G= | CA2428428791 | SLC35A2 | c.1077C= (p.Cys359=) c.415C= (p.Arg139=) c.487C= (p.Arg163=) c.639C= c.1161C= (p.Cys387=) c.1116C= (p.Cys372=) c.425-1367C= c.894C= (p.Cys298=) c.*971C= (n.*971C=) | |
X | g.48904832G>T | CA412894181 | SLC35A2 | c.1077C>A (p.Cys359Ter) c.415C>A (p.Arg139Ser) c.487C>A (p.Arg163Ser) c.639C>A c.1161C>A (p.Cys387Ter) c.1116C>A (p.Cys372Ter) c.425-1367C>A c.894C>A (p.Cys298Ter) c.*971C>A (n.*971C>A) | gnomAD v4 |
X | g.48904833C>A | CA412894182 | SLC35A2 | c.1076G>T (p.Cys359Phe) c.414G>T (p.Leu138=) c.486G>T (p.Leu162=) c.638G>T c.1160G>T (p.Cys387Phe) c.1115G>T (p.Cys372Phe) c.425-1368G>T c.893G>T (p.Cys298Phe) c.*970G>T (n.*970G>T) | |
X | g.48904833C>G | CA412894184 | SLC35A2 | c.1076G>C (p.Cys359Ser) c.414G>C (p.Leu138=) c.486G>C (p.Leu162=) c.638G>C c.1160G>C (p.Cys387Ser) c.1115G>C (p.Cys372Ser) c.425-1368G>C c.893G>C (p.Cys298Ser) c.*970G>C (n.*970G>C) | |
X | g.48904833C>T | CA412894183 | SLC35A2 | c.1076G>A (p.Cys359Tyr) c.414G>A (p.Leu138=) c.486G>A (p.Leu162=) c.638G>A c.1160G>A (p.Cys387Tyr) c.1115G>A (p.Cys372Tyr) c.425-1368G>A c.893G>A (p.Cys298Tyr) c.*970G>A (n.*970G>A) | |
X | g.48904834A>C | CA412894185 | SLC35A2 | c.1075T>G (p.Cys359Gly) c.413T>G (p.Leu138Arg) c.485T>G (p.Leu162Arg) c.637T>G c.1159T>G (p.Cys387Gly) c.1114T>G (p.Cys372Gly) c.425-1369T>G c.892T>G (p.Cys298Gly) c.*969T>G (n.*969T>G) | |
X | g.48904834A>G | CA412894186 | SLC35A2 | c.1075T>C (p.Cys359Arg) c.413T>C (p.Leu138Pro) c.485T>C (p.Leu162Pro) c.637T>C c.1159T>C (p.Cys387Arg) c.1114T>C (p.Cys372Arg) c.425-1369T>C c.892T>C (p.Cys298Arg) c.*969T>C (n.*969T>C) | |
X | g.48904834A>T | CA412894187 | SLC35A2 | c.1075T>A (p.Cys359Ser) c.413T>A (p.Leu138Gln) c.485T>A (p.Leu162Gln) c.637T>A c.1159T>A (p.Cys387Ser) c.1114T>A (p.Cys372Ser) c.425-1369T>A c.892T>A (p.Cys298Ser) c.*969T>A (n.*969T>A) | |
X | g.48904835G>A | CA516359914 | SLC35A2 | c.1074C>T (p.Pro358=) c.412C>T (p.Leu138=) c.484C>T (p.Leu162=) c.636C>T c.1158C>T (p.Pro386=) c.1113C>T (p.Pro371=) c.425-1370C>T c.891C>T (p.Pro297=) c.*968C>T (n.*968C>T) | |
X | g.48904835G>C | CA412894188 | SLC35A2 | c.1074C>G (p.Pro358=) c.412C>G (p.Leu138Val) c.484C>G (p.Leu162Val) c.636C>G c.1158C>G (p.Pro386=) c.1113C>G (p.Pro371=) c.425-1370C>G c.891C>G (p.Pro297=) c.*968C>G (n.*968C>G) | |
X | g.48904835G>T | CA412894189 | SLC35A2 | c.1074C>A (p.Pro358=) c.412C>A (p.Leu138Met) c.484C>A (p.Leu162Met) c.636C>A c.1158C>A (p.Pro386=) c.1113C>A (p.Pro371=) c.425-1370C>A c.891C>A (p.Pro297=) c.*968C>A (n.*968C>A) | |
X | g.48904836G>A | CA412894190 | SLC35A2 | c.1073C>T (p.Pro358Leu) c.411C>T (p.Ala137=) c.483C>T (p.Ala161=) c.635C>T c.1157C>T (p.Pro386Leu) c.1112C>T (p.Pro371Leu) c.425-1371C>T c.890C>T (p.Pro297Leu) c.*967C>T (n.*967C>T) | ClinVar dbSNP gnomAD v4 |
X | g.48904836G>C | CA412894191 | SLC35A2 | c.1073C>G (p.Pro358Arg) c.411C>G (p.Ala137=) c.483C>G (p.Ala161=) c.635C>G c.1157C>G (p.Pro386Arg) c.1112C>G (p.Pro371Arg) c.425-1371C>G c.890C>G (p.Pro297Arg) c.*967C>G (n.*967C>G) | |
X | g.48904836G>T | CA412894192 | SLC35A2 | c.1073C>A (p.Pro358His) c.411C>A (p.Ala137=) c.483C>A (p.Ala161=) c.635C>A c.1157C>A (p.Pro386His) c.1112C>A (p.Pro371His) c.425-1371C>A c.890C>A (p.Pro297His) c.*967C>A (n.*967C>A) | |
X | g.48904837G>A | CA412894193 | SLC35A2 | c.1072C>T (p.Pro358Ser) c.410C>T (p.Ala137Val) c.482C>T (p.Ala161Val) c.634C>T c.1156C>T (p.Pro386Ser) c.1111C>T (p.Pro371Ser) c.425-1372C>T c.889C>T (p.Pro297Ser) c.*966C>T (n.*966C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.48904837G>C | CA412894194 | SLC35A2 | c.1072C>G (p.Pro358Ala) c.410C>G (p.Ala137Gly) c.482C>G (p.Ala161Gly) c.634C>G c.1156C>G (p.Pro386Ala) c.1111C>G (p.Pro371Ala) c.425-1372C>G c.889C>G (p.Pro297Ala) c.*966C>G (n.*966C>G) | |
X | g.48904837G= | CA2428428792 | SLC35A2 | c.1072C= (p.Pro358=) c.410C= (p.Ala137=) c.482C= (p.Ala161=) c.634C= c.1156C= (p.Pro386=) c.1111C= (p.Pro371=) c.425-1372C= c.889C= (p.Pro297=) c.*966C= (n.*966C=) | |
X | g.48904837G>T | CA412894195 | SLC35A2 | c.1072C>A (p.Pro358Thr) c.410C>A (p.Ala137Asp) c.482C>A (p.Ala161Asp) c.634C>A c.1156C>A (p.Pro386Thr) c.1111C>A (p.Pro371Thr) c.425-1372C>A c.889C>A (p.Pro297Thr) c.*966C>A (n.*966C>A) | |
X | g.48904838C>A | CA412894197 | SLC35A2 | c.1071G>T (p.Gly357=) c.409G>T (p.Ala137Ser) c.481G>T (p.Ala161Ser) c.633G>T c.1155G>T (p.Gly385=) c.1110G>T (p.Gly370=) c.425-1373G>T c.888G>T (p.Gly296=) c.*965G>T (n.*965G>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48904838C= | CA2428428793 | SLC35A2 | c.1071G= (p.Gly357=) c.409G= (p.Ala137=) c.481G= (p.Ala161=) c.633G= c.1155G= (p.Gly385=) c.1110G= (p.Gly370=) c.425-1373G= c.888G= (p.Gly296=) c.*965G= (n.*965G=) | |
X | g.48904838C>G | CA412894201 | SLC35A2 | c.1071G>C (p.Gly357=) c.409G>C (p.Ala137Pro) c.481G>C (p.Ala161Pro) c.633G>C c.1155G>C (p.Gly385=) c.1110G>C (p.Gly370=) c.425-1373G>C c.888G>C (p.Gly296=) c.*965G>C (n.*965G>C) | |
X | g.48904838C>T | CA412894199 | SLC35A2 | c.1071G>A (p.Gly357=) c.409G>A (p.Ala137Thr) c.481G>A (p.Ala161Thr) c.633G>A c.1155G>A (p.Gly385=) c.1110G>A (p.Gly370=) c.425-1373G>A c.888G>A (p.Gly296=) c.*965G>A (n.*965G>A) | |
X | g.48904838_48904844delinsCCCGGAG | CA2428428794 | SLC35A2 | c.1065_1071delinsCTCCGGG (p.Ala355=) c.403_409delinsCTCCGGG (p.Leu135=) c.475_481delinsCTCCGGG (p.Leu159=) c.627_633delinsCTCCGGG c.1149_1155delinsCTCCGGG (p.Ala383=) c.1104_1110delinsCTCCGGG (p.Ala368=) c.425-1379_425-1373delinsCTCCGGG c.882_888delinsCTCCGGG (p.Ala294=) c.*959_*965delinsCTCCGGG (n.*959_*965delinsCTCCGGG) | |
X | g.48904839C>A | CA412894203 | SLC35A2 | c.1070G>T (p.Gly357Val) c.408G>T (p.Arg136=) c.480G>T (p.Arg160=) c.632G>T c.1154G>T (p.Gly385Val) c.1109G>T (p.Gly370Val) c.425-1374G>T c.887G>T (p.Gly296Val) c.*964G>T (n.*964G>T) | |
X | g.48904839C= | CA2428428796 | SLC35A2 | c.1070G= (p.Gly357=) c.408G= (p.Arg136=) c.480G= (p.Arg160=) c.632G= c.1154G= (p.Gly385=) c.1109G= (p.Gly370=) c.425-1374G= c.887G= (p.Gly296=) c.*964G= (n.*964G=) | |
X | g.48904839C>G | CA412894205 | SLC35A2 | c.1070G>C (p.Gly357Ala) c.408G>C (p.Arg136=) c.480G>C (p.Arg160=) c.632G>C c.1154G>C (p.Gly385Ala) c.1109G>C (p.Gly370Ala) c.425-1374G>C c.887G>C (p.Gly296Ala) c.*964G>C (n.*964G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.48904839C>T | CA412894206 | SLC35A2 | c.1070G>A (p.Gly357Glu) c.408G>A (p.Arg136=) c.480G>A (p.Arg160=) c.632G>A c.1154G>A (p.Gly385Glu) c.1109G>A (p.Gly370Glu) c.425-1374G>A c.887G>A (p.Gly296Glu) c.*964G>A (n.*964G>A) | |
X | g.48904839_48904844del | CA641902148 | SLC35A2 | c.1065_1070del (p.Ser356_Gly357del) c.403_408del (p.Leu135_Arg136del) c.475_480del (p.Leu159_Arg160del) c.627_632del c.1149_1154del (p.Ser384_Gly385del) c.1104_1109del (p.Ser369_Gly370del) c.425-1379_425-1374del c.882_887del (p.Ser295_Gly296del) c.*959_*964del (n.*959_*964del) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48904839_48904845delinsCCGGAGG | CA2428428795 | SLC35A2 | c.1064_1070delinsCCTCCGG (p.Ala355=) c.402_408delinsCCTCCGG (p.Arg134=) c.474_480delinsCCTCCGG (p.Arg158=) c.626_632delinsCCTCCGG c.1148_1154delinsCCTCCGG (p.Ala383=) c.1103_1109delinsCCTCCGG (p.Ala368=) c.425-1380_425-1374delinsCCTCCGG c.881_887delinsCCTCCGG (p.Ala294=) c.*958_*964delinsCCTCCGG (n.*958_*964delinsCCTCCGG) | |
X | g.48904840C>A | CA412894211 | SLC35A2 | c.1069G>T (p.Gly357Trp) c.407G>T (p.Arg136Leu) c.479G>T (p.Arg160Leu) c.631G>T c.1153G>T (p.Gly385Trp) c.1108G>T (p.Gly370Trp) c.425-1375G>T c.886G>T (p.Gly296Trp) c.*963G>T (n.*963G>T) | gnomAD v4 |
X | g.48904840C= | CA2428428797 | SLC35A2 | c.1069G= (p.Gly357=) c.407G= (p.Arg136=) c.479G= (p.Arg160=) c.631G= c.1153G= (p.Gly385=) c.1108G= (p.Gly370=) c.425-1375G= c.886G= (p.Gly296=) c.*963G= (n.*963G=) | |
X | g.48904840C>G | CA10406062 | SLC35A2 | c.1069G>C (p.Gly357Arg) c.407G>C (p.Arg136Pro) c.479G>C (p.Arg160Pro) c.631G>C c.1153G>C (p.Gly385Arg) c.1108G>C (p.Gly370Arg) c.425-1375G>C c.886G>C (p.Gly296Arg) c.*963G>C (n.*963G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48904840C>T | CA10406063 | SLC35A2 | c.1069G>A (p.Gly357Arg) c.407G>A (p.Arg136Gln) c.479G>A (p.Arg160Gln) c.631G>A c.1153G>A (p.Gly385Arg) c.1108G>A (p.Gly370Arg) c.425-1375G>A c.886G>A (p.Gly296Arg) c.*963G>A (n.*963G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904847_48904852dup | CA641902149 | SLC35A2 | c.1064_1069dup (p.Ser356_Gly357insAlaSer) c.402_407dup (p.Arg136_Ala137insLeuArg) c.474_479dup (p.Arg160_Ala161insLeuArg) c.626_631dup c.1148_1153dup (p.Ser384_Gly385insAlaSer) c.1103_1108dup (p.Ser369_Gly370insAlaSer) c.425-1380_425-1375dup c.881_886dup (p.Ser295_Gly296insAlaSer) c.*958_*963dup (n.*958_*963dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904847_48904852del | CA10406061 | SLC35A2 | c.1064_1069del (p.Ala355_Ser356del) c.402_407del (p.Leu135_Arg136del) c.474_479del (p.Leu159_Arg160del) c.626_631del c.1148_1153del (p.Ala383_Ser384del) c.1103_1108del (p.Ala368_Ser369del) c.425-1380_425-1375del c.881_886del (p.Ala294_Ser295del) c.*958_*963del (n.*958_*963del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904841G>A | CA10406064 | SLC35A2 | c.1068C>T (p.Ser356=) c.406C>T (p.Arg136Trp) c.478C>T (p.Arg160Trp) c.630C>T c.1152C>T (p.Ser384=) c.1107C>T (p.Ser369=) c.425-1376C>T c.885C>T (p.Ser295=) c.*962C>T (n.*962C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904841G>C | CA412894214 | SLC35A2 | c.1068C>G (p.Ser356=) c.406C>G (p.Arg136Gly) c.478C>G (p.Arg160Gly) c.630C>G c.1152C>G (p.Ser384=) c.1107C>G (p.Ser369=) c.425-1376C>G c.885C>G (p.Ser295=) c.*962C>G (n.*962C>G) | |
X | g.48904841G= | CA2428428798 | SLC35A2 | c.1068C= (p.Ser356=) c.406C= (p.Arg136=) c.478C= (p.Arg160=) c.630C= c.1152C= (p.Ser384=) c.1107C= (p.Ser369=) c.425-1376C= c.885C= (p.Ser295=) c.*962C= (n.*962C=) | |
X | g.48904841G>T | CA516359919 | SLC35A2 | c.1068C>A (p.Ser356=) c.406C>A (p.Arg136=) c.478C>A (p.Arg160=) c.630C>A c.1152C>A (p.Ser384=) c.1107C>A (p.Ser369=) c.425-1376C>A c.885C>A (p.Ser295=) c.*962C>A (n.*962C>A) | |
X | g.48904842dup | CA2840092300 | SLC35A2 | c.1068dup (p.Gly357ArgfsTer?) c.406dup (p.Arg136ProfsTer?) c.478dup (p.Arg160ProfsTer?) c.630dup c.1152dup (p.Gly385ArgfsTer?) c.1107dup (p.Gly370ArgfsTer?) c.425-1376dup c.885dup (p.Gly296ArgfsTer?) c.*962dup (n.*962dup) | |
X | g.48904842G>A | CA412894216 | SLC35A2 | c.1067C>T (p.Ser356Phe) c.405C>T (p.Leu135=) c.477C>T (p.Leu159=) c.629C>T c.1151C>T (p.Ser384Phe) c.1106C>T (p.Ser369Phe) c.425-1377C>T c.884C>T (p.Ser295Phe) c.*961C>T (n.*961C>T) | |
X | g.48904842G>C | CA412894218 | SLC35A2 | c.1067C>G (p.Ser356Cys) c.405C>G (p.Leu135=) c.477C>G (p.Leu159=) c.629C>G c.1151C>G (p.Ser384Cys) c.1106C>G (p.Ser369Cys) c.425-1377C>G c.884C>G (p.Ser295Cys) c.*961C>G (n.*961C>G) | |
X | g.48904842G= | CA2428428799 | SLC35A2 | c.1067C= (p.Ser356=) c.405C= (p.Leu135=) c.477C= (p.Leu159=) c.629C= c.1151C= (p.Ser384=) c.1106C= (p.Ser369=) c.425-1377C= c.884C= (p.Ser295=) c.*961C= (n.*961C=) | |
X | g.48904842G>T | CA412894220 | SLC35A2 | c.1067C>A (p.Ser356Tyr) c.405C>A (p.Leu135=) c.477C>A (p.Leu159=) c.629C>A c.1151C>A (p.Ser384Tyr) c.1106C>A (p.Ser369Tyr) c.425-1377C>A c.884C>A (p.Ser295Tyr) c.*961C>A (n.*961C>A) | |
X | g.48904847_48904858dup | CA2693659196 | SLC35A2 | c.1056_1067dup (p.Ser356_Gly357insAlaSerAlaSer) c.394_405dup (p.Leu135_Arg136insCysLeuArgLeu) c.466_477dup (p.Leu159_Arg160insCysLeuArgLeu) c.618_629dup c.1140_1151dup (p.Ser384_Gly385insAlaSerAlaSer) c.1095_1106dup (p.Ser369_Gly370insAlaSerAlaSer) c.425-1388_425-1377dup c.873_884dup (p.Ser295_Gly296insAlaSerAlaSer) c.*950_*961dup (n.*950_*961dup) | gnomAD v4 |
X | g.48904843A>C | CA412894222 | SLC35A2 | c.1066T>G (p.Ser356Ala) c.404T>G (p.Leu135Arg) c.476T>G (p.Leu159Arg) c.628T>G c.1150T>G (p.Ser384Ala) c.1105T>G (p.Ser369Ala) c.425-1378T>G c.883T>G (p.Ser295Ala) c.*960T>G (n.*960T>G) | |
X | g.48904843A>G | CA412894224 | SLC35A2 | c.1066T>C (p.Ser356Pro) c.404T>C (p.Leu135Pro) c.476T>C (p.Leu159Pro) c.628T>C c.1150T>C (p.Ser384Pro) c.1105T>C (p.Ser369Pro) c.425-1378T>C c.883T>C (p.Ser295Pro) c.*960T>C (n.*960T>C) | |
X | g.48904843A>T | CA412894226 | SLC35A2 | c.1066T>A (p.Ser356Thr) c.404T>A (p.Leu135His) c.476T>A (p.Leu159His) c.628T>A c.1150T>A (p.Ser384Thr) c.1105T>A (p.Ser369Thr) c.425-1378T>A c.883T>A (p.Ser295Thr) c.*960T>A (n.*960T>A) | |
X | g.48904844_48904845insAGGCAG | CA658799741 | SLC35A2 | c.1066_1067insGCCTCT (p.Ala355_Ser356insCysLeu) c.404_405insGCCTCT (p.Leu135_Arg136insProLeu) c.476_477insGCCTCT (p.Leu159_Arg160insProLeu) c.628_629insGCCTCT c.1150_1151insGCCTCT (p.Ala383_Ser384insCysLeu) c.1105_1106insGCCTCT (p.Ala368_Ser369insCysLeu) c.425-1378_425-1377insGCCTCT c.883_884insGCCTCT (p.Ala294_Ser295insCysLeu) c.*960_*961insGCCTCT (n.*960_*961insGCCTCT) | dbSNP |
X | g.48904844G>A | CA412894228 | SLC35A2 | c.1065C>T (p.Ala355=) c.403C>T (p.Leu135Phe) c.475C>T (p.Leu159Phe) c.627C>T c.1149C>T (p.Ala383=) c.1104C>T (p.Ala368=) c.425-1379C>T c.882C>T (p.Ala294=) c.*959C>T (n.*959C>T) | |
X | g.48904844G>C | CA412894233 | SLC35A2 | c.1065C>G (p.Ala355=) c.403C>G (p.Leu135Val) c.475C>G (p.Leu159Val) c.627C>G c.1149C>G (p.Ala383=) c.1104C>G (p.Ala368=) c.425-1379C>G c.882C>G (p.Ala294=) c.*959C>G (n.*959C>G) | |
X | g.48904844G>T | CA412894231 | SLC35A2 | c.1065C>A (p.Ala355=) c.403C>A (p.Leu135Ile) c.475C>A (p.Leu159Ile) c.627C>A c.1149C>A (p.Ala383=) c.1104C>A (p.Ala368=) c.425-1379C>A c.882C>A (p.Ala294=) c.*959C>A (n.*959C>A) | |
X | g.48904845G>A | CA412894234 | SLC35A2 | c.1064C>T (p.Ala355Val) c.402C>T (p.Arg134=) c.474C>T (p.Arg158=) c.626C>T c.1148C>T (p.Ala383Val) c.1103C>T (p.Ala368Val) c.425-1380C>T c.881C>T (p.Ala294Val) c.*958C>T (n.*958C>T) | |
X | g.48904845G>C | CA412894236 | SLC35A2 | c.1064C>G (p.Ala355Gly) c.402C>G (p.Arg134=) c.474C>G (p.Arg158=) c.626C>G c.1148C>G (p.Ala383Gly) c.1103C>G (p.Ala368Gly) c.425-1380C>G c.881C>G (p.Ala294Gly) c.*958C>G (n.*958C>G) | |
X | g.48904845G>T | CA412894237 | SLC35A2 | c.1064C>A (p.Ala355Asp) c.402C>A (p.Arg134=) c.474C>A (p.Arg158=) c.626C>A c.1148C>A (p.Ala383Asp) c.1103C>A (p.Ala368Asp) c.425-1380C>A c.881C>A (p.Ala294Asp) c.*958C>A (n.*958C>A) | |
X | g.48904846C>A | CA412894238 | SLC35A2 | c.1063G>T (p.Ala355Ser) c.401G>T (p.Arg134Leu) c.473G>T (p.Arg158Leu) c.625G>T c.1147G>T (p.Ala383Ser) c.1102G>T (p.Ala368Ser) c.425-1381G>T c.880G>T (p.Ala294Ser) c.*957G>T (n.*957G>T) | |
X | g.48904846C= | CA2428428800 | SLC35A2 | c.1063G= (p.Ala355=) c.401G= (p.Arg134=) c.473G= (p.Arg158=) c.625G= c.1147G= (p.Ala383=) c.1102G= (p.Ala368=) c.425-1381G= c.880G= (p.Ala294=) c.*957G= (n.*957G=) | |
X | g.48904846C>G | CA412894240 | SLC35A2 | c.1063G>C (p.Ala355Pro) c.401G>C (p.Arg134Pro) c.473G>C (p.Arg158Pro) c.625G>C c.1147G>C (p.Ala383Pro) c.1102G>C (p.Ala368Pro) c.425-1381G>C c.880G>C (p.Ala294Pro) c.*957G>C (n.*957G>C) | |
X | g.48904846C>T | CA10406065 | SLC35A2 | c.1063G>A (p.Ala355Thr) c.401G>A (p.Arg134His) c.473G>A (p.Arg158His) c.625G>A c.1147G>A (p.Ala383Thr) c.1102G>A (p.Ala368Thr) c.425-1381G>A c.880G>A (p.Ala294Thr) c.*957G>A (n.*957G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.48904847G>A | CA10406067 | SLC35A2 | c.1062C>T (p.Ser354=) c.400C>T (p.Arg134Cys) c.472C>T (p.Arg158Cys) c.624C>T c.1146C>T (p.Ser382=) c.1101C>T (p.Ser367=) c.425-1382C>T c.879C>T (p.Ser293=) c.*956C>T (n.*956C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904847G>C | CA412894244 | SLC35A2 | c.1062C>G (p.Ser354=) c.400C>G (p.Arg134Gly) c.472C>G (p.Arg158Gly) c.624C>G c.1146C>G (p.Ser382=) c.1101C>G (p.Ser367=) c.425-1382C>G c.879C>G (p.Ser293=) c.*956C>G (n.*956C>G) | |
X | g.48904847G= | CA2428428801 | SLC35A2 | c.1062C= (p.Ser354=) c.400C= (p.Arg134=) c.472C= (p.Arg158=) c.624C= c.1146C= (p.Ser382=) c.1101C= (p.Ser367=) c.425-1382C= c.879C= (p.Ser293=) c.*956C= (n.*956C=) | |
X | g.48904847G>T | CA412894246 | SLC35A2 | c.1062C>A (p.Ser354=) c.400C>A (p.Arg134Ser) c.472C>A (p.Arg158Ser) c.624C>A c.1146C>A (p.Ser382=) c.1101C>A (p.Ser367=) c.425-1382C>A c.879C>A (p.Ser293=) c.*956C>A (n.*956C>A) | |
X | g.48904847_48904853delinsGGAGGCA | CA2428428802 | SLC35A2 | c.1056_1062delinsTGCCTCC (p.Ser352=) c.394_400delinsTGCCTCC (p.Cys132=) c.466_472delinsTGCCTCC (p.Cys156=) c.618_624delinsTGCCTCC c.1140_1146delinsTGCCTCC (p.Ser380=) c.1095_1101delinsTGCCTCC (p.Ser365=) c.425-1388_425-1382delinsTGCCTCC c.873_879delinsTGCCTCC (p.Ser291=) c.*950_*956delinsTGCCTCC (n.*950_*956delinsTGCCTCC) | |
X | g.48904848G>A | CA412894248 | SLC35A2 | c.1061C>T (p.Ser354Phe) c.399C>T (p.Leu133=) c.471C>T (p.Leu157=) c.623C>T c.1145C>T (p.Ser382Phe) c.1100C>T (p.Ser367Phe) c.425-1383C>T c.878C>T (p.Ser293Phe) c.*955C>T (n.*955C>T) | |
X | g.48904848G>C | CA412894251 | SLC35A2 | c.1061C>G (p.Ser354Cys) c.399C>G (p.Leu133=) c.471C>G (p.Leu157=) c.623C>G c.1145C>G (p.Ser382Cys) c.1100C>G (p.Ser367Cys) c.425-1383C>G c.878C>G (p.Ser293Cys) c.*955C>G (n.*955C>G) | |
X | g.48904848G>T | CA412894253 | SLC35A2 | c.1061C>A (p.Ser354Tyr) c.399C>A (p.Leu133=) c.471C>A (p.Leu157=) c.623C>A c.1145C>A (p.Ser382Tyr) c.1100C>A (p.Ser367Tyr) c.425-1383C>A c.878C>A (p.Ser293Tyr) c.*955C>A (n.*955C>A) | |
X | g.48904859_48904864dup | CA641902150 | SLC35A2 | c.1056_1061dup (p.Ser354_Ala355insAlaSer) c.394_399dup (p.Leu133_Arg134insCysLeu) c.466_471dup (p.Leu157_Arg158insCysLeu) c.618_623dup c.1140_1145dup (p.Ser382_Ala383insAlaSer) c.1095_1100dup (p.Ser367_Ala368insAlaSer) c.425-1388_425-1383dup c.873_878dup (p.Ser293_Ala294insAlaSer) c.*950_*955dup (n.*950_*955dup) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.48904859_48904864del | CA10406066 | SLC35A2 | c.1056_1061del (p.Ala353_Ser354del) c.394_399del (p.Cys132_Leu133del) c.466_471del (p.Cys156_Leu157del) c.618_623del c.1140_1145del (p.Ala381_Ser382del) c.1095_1100del (p.Ala366_Ser367del) c.425-1388_425-1383del c.873_878del (p.Ala292_Ser293del) c.*950_*955del (n.*950_*955del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.48904849A>C | CA412894255 | SLC35A2 | c.1060T>G (p.Ser354Ala) c.398T>G (p.Leu133Arg) c.470T>G (p.Leu157Arg) c.622T>G c.1144T>G (p.Ser382Ala) c.1099T>G (p.Ser367Ala) c.425-1384T>G c.877T>G (p.Ser293Ala) c.*954T>G (n.*954T>G) | |
X | g.48904849A>G | CA412894260 | SLC35A2 | c.1060T>C (p.Ser354Pro) c.398T>C (p.Leu133Pro) c.470T>C (p.Leu157Pro) c.622T>C c.1144T>C (p.Ser382Pro) c.1099T>C (p.Ser367Pro) c.425-1384T>C c.877T>C (p.Ser293Pro) c.*954T>C (n.*954T>C) | |
X | g.48904849A>T | CA412894258 | SLC35A2 | c.1060T>A (p.Ser354Thr) c.398T>A (p.Leu133His) c.470T>A (p.Leu157His) c.622T>A c.1144T>A (p.Ser382Thr) c.1099T>A (p.Ser367Thr) c.425-1384T>A c.877T>A (p.Ser293Thr) c.*954T>A (n.*954T>A) | |
X | g.48904850G>A | CA412894262 | SLC35A2 | c.1059C>T (p.Ala353=) c.397C>T (p.Leu133Phe) c.469C>T (p.Leu157Phe) c.621C>T c.1143C>T (p.Ala381=) c.1098C>T (p.Ala366=) c.425-1385C>T c.876C>T (p.Ala292=) c.*953C>T (n.*953C>T) | |
X | g.48904850G>C | CA412894264 | SLC35A2 | c.1059C>G (p.Ala353=) c.397C>G (p.Leu133Val) c.469C>G (p.Leu157Val) c.621C>G c.1143C>G (p.Ala381=) c.1098C>G (p.Ala366=) c.425-1385C>G c.876C>G (p.Ala292=) c.*953C>G (n.*953C>G) | |
X | g.48904850G>T | CA412894266 | SLC35A2 | c.1059C>A (p.Ala353=) c.397C>A (p.Leu133Ile) c.469C>A (p.Leu157Ile) c.621C>A c.1143C>A (p.Ala381=) c.1098C>A (p.Ala366=) c.425-1385C>A c.876C>A (p.Ala292=) c.*953C>A (n.*953C>A) | |
X | g.48904851G>A | CA412894268 | SLC35A2 | c.1058C>T (p.Ala353Val) c.396C>T (p.Cys132=) c.468C>T (p.Cys156=) c.620C>T c.1142C>T (p.Ala381Val) c.1097C>T (p.Ala366Val) c.425-1386C>T c.875C>T (p.Ala292Val) c.*952C>T (n.*952C>T) | |
X | g.48904851G>C | CA412894269 | SLC35A2 | c.1058C>G (p.Ala353Gly) c.396C>G (p.Cys132Trp) c.468C>G (p.Cys156Trp) c.620C>G c.1142C>G (p.Ala381Gly) c.1097C>G (p.Ala366Gly) c.425-1386C>G c.875C>G (p.Ala292Gly) c.*952C>G (n.*952C>G) | |
X | g.48904851G>T | CA412894272 | SLC35A2 | c.1058C>A (p.Ala353Asp) c.396C>A (p.Cys132Ter) c.468C>A (p.Cys156Ter) c.620C>A c.1142C>A (p.Ala381Asp) c.1097C>A (p.Ala366Asp) c.425-1386C>A c.875C>A (p.Ala292Asp) c.*952C>A (n.*952C>A) | |
X | g.48904852C>A | CA412894274 | SLC35A2 | c.1057G>T (p.Ala353Ser) c.395G>T (p.Cys132Phe) c.467G>T (p.Cys156Phe) c.619G>T c.1141G>T (p.Ala381Ser) c.1096G>T (p.Ala366Ser) c.425-1387G>T c.874G>T (p.Ala292Ser) c.*951G>T (n.*951G>T) | |
X | g.48904852C>G | CA412894276 | SLC35A2 | c.1057G>C (p.Ala353Pro) c.395G>C (p.Cys132Ser) c.467G>C (p.Cys156Ser) c.619G>C c.1141G>C (p.Ala381Pro) c.1096G>C (p.Ala366Pro) c.425-1387G>C c.874G>C (p.Ala292Pro) c.*951G>C (n.*951G>C) | |
X | g.48904852C>T | CA412894278 | SLC35A2 | c.1057G>A (p.Ala353Thr) c.395G>A (p.Cys132Tyr) c.467G>A (p.Cys156Tyr) c.619G>A c.1141G>A (p.Ala381Thr) c.1096G>A (p.Ala366Thr) c.425-1387G>A c.874G>A (p.Ala292Thr) c.*951G>A (n.*951G>A) | |
X | g.48904853A= | CA2428428803 | SLC35A2 | c.1056T= (p.Ser352=) c.394T= (p.Cys132=) c.466T= (p.Cys156=) c.618T= c.1140T= (p.Ser380=) c.1095T= (p.Ser365=) c.425-1388T= c.873T= (p.Ser291=) c.*950T= (n.*950T=) | |
X | g.48904853A>C | CA412894280 | SLC35A2 | c.1056T>G (p.Ser352=) c.394T>G (p.Cys132Gly) c.466T>G (p.Cys156Gly) c.618T>G c.1140T>G (p.Ser380=) c.1095T>G (p.Ser365=) c.425-1388T>G c.873T>G (p.Ser291=) c.*950T>G (n.*950T>G) | |
X | g.48904853A>G | CA10406068 | SLC35A2 | c.1056T>C (p.Ser352=) c.394T>C (p.Cys132Arg) c.466T>C (p.Cys156Arg) c.618T>C c.1140T>C (p.Ser380=) c.1095T>C (p.Ser365=) c.425-1388T>C c.873T>C (p.Ser291=) c.*950T>C (n.*950T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904853A>T | CA412894283 | SLC35A2 | c.1056T>A (p.Ser352=) c.394T>A (p.Cys132Ser) c.466T>A (p.Cys156Ser) c.618T>A c.1140T>A (p.Ser380=) c.1095T>A (p.Ser365=) c.425-1388T>A c.873T>A (p.Ser291=) c.*950T>A (n.*950T>A) | |
X | g.48904854G>A | CA412894289 | SLC35A2 | c.1055C>T (p.Ser352Phe) c.393C>T (p.Leu131=) c.465C>T (p.Leu155=) c.617C>T c.1139C>T (p.Ser380Phe) c.1094C>T (p.Ser365Phe) c.425-1389C>T c.872C>T (p.Ser291Phe) c.*949C>T (n.*949C>T) | |
X | g.48904854G>C | CA412894288 | SLC35A2 | c.1055C>G (p.Ser352Cys) c.393C>G (p.Leu131=) c.465C>G (p.Leu155=) c.617C>G c.1139C>G (p.Ser380Cys) c.1094C>G (p.Ser365Cys) c.425-1389C>G c.872C>G (p.Ser291Cys) c.*949C>G (n.*949C>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48904854G= | CA2428428804 | SLC35A2 | c.1055C= (p.Ser352=) c.393C= (p.Leu131=) c.465C= (p.Leu155=) c.617C= c.1139C= (p.Ser380=) c.1094C= (p.Ser365=) c.425-1389C= c.872C= (p.Ser291=) c.*949C= (n.*949C=) | |
X | g.48904854G>T | CA412894285 | SLC35A2 | c.1055C>A (p.Ser352Tyr) c.393C>A (p.Leu131=) c.465C>A (p.Leu155=) c.617C>A c.1139C>A (p.Ser380Tyr) c.1094C>A (p.Ser365Tyr) c.425-1389C>A c.872C>A (p.Ser291Tyr) c.*949C>A (n.*949C>A) | |
X | g.48904855A>C | CA412894292 | SLC35A2 | c.1054T>G (p.Ser352Ala) c.392T>G (p.Leu131Arg) c.464T>G (p.Leu155Arg) c.616T>G c.1138T>G (p.Ser380Ala) c.1093T>G (p.Ser365Ala) c.425-1390T>G c.871T>G (p.Ser291Ala) c.*948T>G (n.*948T>G) | |
X | g.48904855A>G | CA412894294 | SLC35A2 | c.1054T>C (p.Ser352Pro) c.392T>C (p.Leu131Pro) c.464T>C (p.Leu155Pro) c.616T>C c.1138T>C (p.Ser380Pro) c.1093T>C (p.Ser365Pro) c.425-1390T>C c.871T>C (p.Ser291Pro) c.*948T>C (n.*948T>C) | |
X | g.48904855A>T | CA412894296 | SLC35A2 | c.1054T>A (p.Ser352Thr) c.392T>A (p.Leu131His) c.464T>A (p.Leu155His) c.616T>A c.1138T>A (p.Ser380Thr) c.1093T>A (p.Ser365Thr) c.425-1390T>A c.871T>A (p.Ser291Thr) c.*948T>A (n.*948T>A) | |
X | g.48904856G>A | CA412894299 | SLC35A2 | c.1053C>T (p.Ala351=) c.391C>T (p.Leu131Phe) c.463C>T (p.Leu155Phe) c.615C>T c.1137C>T (p.Ala379=) c.1092C>T (p.Ala364=) c.425-1391C>T c.870C>T (p.Ala290=) c.*947C>T (n.*947C>T) | |
X | g.48904856G>C | CA412894300 | SLC35A2 | c.1053C>G (p.Ala351=) c.391C>G (p.Leu131Val) c.463C>G (p.Leu155Val) c.615C>G c.1137C>G (p.Ala379=) c.1092C>G (p.Ala364=) c.425-1391C>G c.870C>G (p.Ala290=) c.*947C>G (n.*947C>G) | |
X | g.48904856G>T | CA412894302 | SLC35A2 | c.1053C>A (p.Ala351=) c.391C>A (p.Leu131Ile) c.463C>A (p.Leu155Ile) c.615C>A c.1137C>A (p.Ala379=) c.1092C>A (p.Ala364=) c.425-1391C>A c.870C>A (p.Ala290=) c.*947C>A (n.*947C>A) | |
X | g.48904857G>A | CA412894305 | SLC35A2 | c.1052C>T (p.Ala351Val) c.390C>T (p.Cys130=) c.462C>T (p.Cys154=) c.614C>T c.1136C>T (p.Ala379Val) c.1091C>T (p.Ala364Val) c.425-1392C>T c.869C>T (p.Ala290Val) c.*946C>T (n.*946C>T) | |
X | g.48904857G>C | CA412894306 | SLC35A2 | c.1052C>G (p.Ala351Gly) c.390C>G (p.Cys130Trp) c.462C>G (p.Cys154Trp) c.614C>G c.1136C>G (p.Ala379Gly) c.1091C>G (p.Ala364Gly) c.425-1392C>G c.869C>G (p.Ala290Gly) c.*946C>G (n.*946C>G) | |
X | g.48904857G>T | CA412894308 | SLC35A2 | c.1052C>A (p.Ala351Asp) c.390C>A (p.Cys130Ter) c.462C>A (p.Cys154Ter) c.614C>A c.1136C>A (p.Ala379Asp) c.1091C>A (p.Ala364Asp) c.425-1392C>A c.869C>A (p.Ala290Asp) c.*946C>A (n.*946C>A) | |
X | g.48904858C>A | CA412894311 | SLC35A2 | c.1051G>T (p.Ala351Ser) c.389G>T (p.Cys130Phe) c.461G>T (p.Cys154Phe) c.613G>T c.1135G>T (p.Ala379Ser) c.1090G>T (p.Ala364Ser) c.425-1393G>T c.868G>T (p.Ala290Ser) c.*945G>T (n.*945G>T) | |
X | g.48904858C>G | CA412894314 | SLC35A2 | c.1051G>C (p.Ala351Pro) c.389G>C (p.Cys130Ser) c.461G>C (p.Cys154Ser) c.613G>C c.1135G>C (p.Ala379Pro) c.1090G>C (p.Ala364Pro) c.425-1393G>C c.868G>C (p.Ala290Pro) c.*945G>C (n.*945G>C) | |
X | g.48904858C>T | CA412894316 | SLC35A2 | c.1051G>A (p.Ala351Thr) c.389G>A (p.Cys130Tyr) c.461G>A (p.Cys154Tyr) c.613G>A c.1135G>A (p.Ala379Thr) c.1090G>A (p.Ala364Thr) c.425-1393G>A c.868G>A (p.Ala290Thr) c.*945G>A (n.*945G>A) | |
X | g.48904859A= | CA2428428805 | SLC35A2 | c.1050T= (p.Ser350=) c.388T= (p.Cys130=) c.460T= (p.Cys154=) c.612T= c.1134T= (p.Ser378=) c.1089T= (p.Ser363=) c.425-1394T= c.867T= (p.Ser289=) c.*944T= (n.*944T=) | |
X | g.48904859A>C | CA412894321 | SLC35A2 | c.1050T>G (p.Ser350=) c.388T>G (p.Cys130Gly) c.460T>G (p.Cys154Gly) c.612T>G c.1134T>G (p.Ser378=) c.1089T>G (p.Ser363=) c.425-1394T>G c.867T>G (p.Ser289=) c.*944T>G (n.*944T>G) | |
X | g.48904859A>G | CA10406069 | SLC35A2 | c.1050T>C (p.Ser350=) c.388T>C (p.Cys130Arg) c.460T>C (p.Cys154Arg) c.612T>C c.1134T>C (p.Ser378=) c.1089T>C (p.Ser363=) c.425-1394T>C c.867T>C (p.Ser289=) c.*944T>C (n.*944T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904859A>T | CA412894319 | SLC35A2 | c.1050T>A (p.Ser350=) c.388T>A (p.Cys130Ser) c.460T>A (p.Cys154Ser) c.612T>A c.1134T>A (p.Ser378=) c.1089T>A (p.Ser363=) c.425-1394T>A c.867T>A (p.Ser289=) c.*944T>A (n.*944T>A) | |
X | g.48904860G>A | CA412894323 | SLC35A2 | c.1049C>T (p.Ser350Phe) c.387C>T (p.Leu129=) c.459C>T (p.Leu153=) c.611C>T c.1133C>T (p.Ser378Phe) c.1088C>T (p.Ser363Phe) c.425-1395C>T c.866C>T (p.Ser289Phe) c.*943C>T (n.*943C>T) | |
X | g.48904860G>C | CA412894327 | SLC35A2 | c.1049C>G (p.Ser350Cys) c.387C>G (p.Leu129=) c.459C>G (p.Leu153=) c.611C>G c.1133C>G (p.Ser378Cys) c.1088C>G (p.Ser363Cys) c.425-1395C>G c.866C>G (p.Ser289Cys) c.*943C>G (n.*943C>G) | |
X | g.48904860G>T | CA412894325 | SLC35A2 | c.1049C>A (p.Ser350Tyr) c.387C>A (p.Leu129=) c.459C>A (p.Leu153=) c.611C>A c.1133C>A (p.Ser378Tyr) c.1088C>A (p.Ser363Tyr) c.425-1395C>A c.866C>A (p.Ser289Tyr) c.*943C>A (n.*943C>A) | |
X | g.48904861A>C | CA412894329 | SLC35A2 | c.1048T>G (p.Ser350Ala) c.386T>G (p.Leu129Arg) c.458T>G (p.Leu153Arg) c.610T>G c.1132T>G (p.Ser378Ala) c.1087T>G (p.Ser363Ala) c.425-1396T>G c.865T>G (p.Ser289Ala) c.*942T>G (n.*942T>G) | |
X | g.48904861A>G | CA412894333 | SLC35A2 | c.1048T>C (p.Ser350Pro) c.386T>C (p.Leu129Pro) c.458T>C (p.Leu153Pro) c.610T>C c.1132T>C (p.Ser378Pro) c.1087T>C (p.Ser363Pro) c.425-1396T>C c.865T>C (p.Ser289Pro) c.*942T>C (n.*942T>C) | |
X | g.48904861A>T | CA412894331 | SLC35A2 | c.1048T>A (p.Ser350Thr) c.386T>A (p.Leu129His) c.458T>A (p.Leu153His) c.610T>A c.1132T>A (p.Ser378Thr) c.1087T>A (p.Ser363Thr) c.425-1396T>A c.865T>A (p.Ser289Thr) c.*942T>A (n.*942T>A) | |
X | g.48904862G>A | CA412894335 | SLC35A2 | c.1047C>T (p.Ala349=) c.385C>T (p.Leu129Phe) c.457C>T (p.Leu153Phe) c.609C>T c.1131C>T (p.Ala377=) c.1086C>T (p.Ala362=) c.425-1397C>T c.864C>T (p.Ala288=) c.*941C>T (n.*941C>T) | |
X | g.48904862G>C | CA412894339 | SLC35A2 | c.1047C>G (p.Ala349=) c.385C>G (p.Leu129Val) c.457C>G (p.Leu153Val) c.609C>G c.1131C>G (p.Ala377=) c.1086C>G (p.Ala362=) c.425-1397C>G c.864C>G (p.Ala288=) c.*941C>G (n.*941C>G) | gnomAD v4 |
X | g.48904862G>T | CA412894337 | SLC35A2 | c.1047C>A (p.Ala349=) c.385C>A (p.Leu129Ile) c.457C>A (p.Leu153Ile) c.609C>A c.1131C>A (p.Ala377=) c.1086C>A (p.Ala362=) c.425-1397C>A c.864C>A (p.Ala288=) c.*941C>A (n.*941C>A) | |
X | g.48904863G>A | CA412894341 | SLC35A2 | c.1046C>T (p.Ala349Val) c.384C>T (p.Ser128=) c.456C>T (p.Ser152=) c.608C>T c.1130C>T (p.Ala377Val) c.1085C>T (p.Ala362Val) c.425-1398C>T c.863C>T (p.Ala288Val) c.*940C>T (n.*940C>T) | |
X | g.48904863G>C | CA412894344 | SLC35A2 | c.1046C>G (p.Ala349Gly) c.384C>G (p.Ser128Arg) c.456C>G (p.Ser152Arg) c.608C>G c.1130C>G (p.Ala377Gly) c.1085C>G (p.Ala362Gly) c.425-1398C>G c.863C>G (p.Ala288Gly) c.*940C>G (n.*940C>G) | |
X | g.48904863G>T | CA412894343 | SLC35A2 | c.1046C>A (p.Ala349Asp) c.384C>A (p.Ser128Arg) c.456C>A (p.Ser152Arg) c.608C>A c.1130C>A (p.Ala377Asp) c.1085C>A (p.Ala362Asp) c.425-1398C>A c.863C>A (p.Ala288Asp) c.*940C>A (n.*940C>A) | gnomAD v4 |
X | g.48904864C>A | CA412894347 | SLC35A2 | c.1045G>T (p.Ala349Ser) c.383G>T (p.Ser128Ile) c.455G>T (p.Ser152Ile) c.607G>T c.1129G>T (p.Ala377Ser) c.1084G>T (p.Ala362Ser) c.425-1399G>T c.862G>T (p.Ala288Ser) c.*939G>T (n.*939G>T) | gnomAD v4 |
X | g.48904864C>G | CA412894350 | SLC35A2 | c.1045G>C (p.Ala349Pro) c.383G>C (p.Ser128Thr) c.455G>C (p.Ser152Thr) c.607G>C c.1129G>C (p.Ala377Pro) c.1084G>C (p.Ala362Pro) c.425-1399G>C c.862G>C (p.Ala288Pro) c.*939G>C (n.*939G>C) | |
X | g.48904864C>T | CA412894349 | SLC35A2 | c.1045G>A (p.Ala349Thr) c.383G>A (p.Ser128Asn) c.455G>A (p.Ser152Asn) c.607G>A c.1129G>A (p.Ala377Thr) c.1084G>A (p.Ala362Thr) c.425-1399G>A c.862G>A (p.Ala288Thr) c.*939G>A (n.*939G>A) | |
X | g.48904865T>A | CA412894353 | SLC35A2 | c.1044A>T (p.Ile348=) c.382A>T (p.Ser128Cys) c.454A>T (p.Ser152Cys) c.606A>T c.1128A>T (p.Ile376=) c.1083A>T (p.Ile361=) c.425-1400A>T c.861A>T (p.Ile287=) c.*938A>T (n.*938A>T) | |
X | g.48904865T>C | CA412894357 | SLC35A2 | c.1044A>G (p.Ile348Met) c.382A>G (p.Ser128Gly) c.454A>G (p.Ser152Gly) c.606A>G c.1128A>G (p.Ile376Met) c.1083A>G (p.Ile361Met) c.425-1400A>G c.861A>G (p.Ile287Met) c.*938A>G (n.*938A>G) | |
X | g.48904865T>G | CA412894355 | SLC35A2 | c.1044A>C (p.Ile348=) c.382A>C (p.Ser128Arg) c.454A>C (p.Ser152Arg) c.606A>C c.1128A>C (p.Ile376=) c.1083A>C (p.Ile361=) c.425-1400A>C c.861A>C (p.Ile287=) c.*938A>C (n.*938A>C) | |
X | g.48904866A>C | CA412894358 | SLC35A2 | c.1043T>G (p.Ile348Arg) c.381T>G (p.His127Gln) c.453T>G (p.His151Gln) c.605T>G c.1127T>G (p.Ile376Arg) c.1082T>G (p.Ile361Arg) c.425-1401T>G c.860T>G (p.Ile287Arg) c.*937T>G (n.*937T>G) | |
X | g.48904866A>G | CA412894360 | SLC35A2 | c.1043T>C (p.Ile348Thr) c.381T>C (p.His127=) c.453T>C (p.His151=) c.605T>C c.1127T>C (p.Ile376Thr) c.1082T>C (p.Ile361Thr) c.425-1401T>C c.860T>C (p.Ile287Thr) c.*937T>C (n.*937T>C) | gnomAD v4 |
X | g.48904866A>T | CA412894362 | SLC35A2 | c.1043T>A (p.Ile348Lys) c.381T>A (p.His127Gln) c.453T>A (p.His151Gln) c.605T>A c.1127T>A (p.Ile376Lys) c.1082T>A (p.Ile361Lys) c.425-1401T>A c.860T>A (p.Ile287Lys) c.*937T>A (n.*937T>A) | |
X | g.48904867T>A | CA412894364 | SLC35A2 | c.1042A>T (p.Ile348Leu) c.380A>T (p.His127Leu) c.452A>T (p.His151Leu) c.604A>T c.1126A>T (p.Ile376Leu) c.1081A>T (p.Ile361Leu) c.425-1402A>T c.859A>T (p.Ile287Leu) c.*936A>T (n.*936A>T) | |
X | g.48904867T>C | CA412894366 | SLC35A2 | c.1042A>G (p.Ile348Val) c.380A>G (p.His127Arg) c.452A>G (p.His151Arg) c.604A>G c.1126A>G (p.Ile376Val) c.1081A>G (p.Ile361Val) c.425-1402A>G c.859A>G (p.Ile287Val) c.*936A>G (n.*936A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.48904867T>G | CA412894368 | SLC35A2 | c.1042A>C (p.Ile348Leu) c.380A>C (p.His127Pro) c.452A>C (p.His151Pro) c.604A>C c.1126A>C (p.Ile376Leu) c.1081A>C (p.Ile361Leu) c.425-1402A>C c.859A>C (p.Ile287Leu) c.*936A>C (n.*936A>C) | |
X | g.48904867T= | CA2428428806 | SLC35A2 | c.1042A= (p.Ile348=) c.380A= (p.His127=) c.452A= (p.His151=) c.604A= c.1126A= (p.Ile376=) c.1081A= (p.Ile361=) c.425-1402A= c.859A= (p.Ile287=) c.*936A= (n.*936A=) | |
X | g.48904868G>A | CA412894372 | SLC35A2 | c.1041C>T (p.Ala347=) c.379C>T (p.His127Tyr) c.451C>T (p.His151Tyr) c.603C>T c.1125C>T (p.Ala375=) c.1080C>T (p.Ala360=) c.425-1403C>T c.858C>T (p.Ala286=) c.*935C>T (n.*935C>T) | |
X | g.48904868G>C | CA412894373 | SLC35A2 | c.1041C>G (p.Ala347=) c.379C>G (p.His127Asp) c.451C>G (p.His151Asp) c.603C>G c.1125C>G (p.Ala375=) c.1080C>G (p.Ala360=) c.425-1403C>G c.858C>G (p.Ala286=) c.*935C>G (n.*935C>G) | |
X | g.48904868G>T | CA412894376 | SLC35A2 | c.1041C>A (p.Ala347=) c.379C>A (p.His127Asn) c.451C>A (p.His151Asn) c.603C>A c.1125C>A (p.Ala375=) c.1080C>A (p.Ala360=) c.425-1403C>A c.858C>A (p.Ala286=) c.*935C>A (n.*935C>A) | |
X | g.48904869G>A | CA412894378 | SLC35A2 | c.1040C>T (p.Ala347Val) c.378C>T (p.Ser126=) c.450C>T (p.Ser150=) c.602C>T c.1124C>T (p.Ala375Val) c.1079C>T (p.Ala360Val) c.425-1404C>T c.857C>T (p.Ala286Val) c.*934C>T (n.*934C>T) | |
X | g.48904869G>C | CA412894380 | SLC35A2 | c.1040C>G (p.Ala347Gly) c.378C>G (p.Ser126Arg) c.450C>G (p.Ser150Arg) c.602C>G c.1124C>G (p.Ala375Gly) c.1079C>G (p.Ala360Gly) c.425-1404C>G c.857C>G (p.Ala286Gly) c.*934C>G (n.*934C>G) | |
X | g.48904869G>T | CA412894382 | SLC35A2 | c.1040C>A (p.Ala347Asp) c.378C>A (p.Ser126Arg) c.450C>A (p.Ser150Arg) c.602C>A c.1124C>A (p.Ala375Asp) c.1079C>A (p.Ala360Asp) c.425-1404C>A c.857C>A (p.Ala286Asp) c.*934C>A (n.*934C>A) | |
X | g.48904870C>A | CA412894384 | SLC35A2 | c.1039G>T (p.Ala347Ser) c.377G>T (p.Ser126Ile) c.449G>T (p.Ser150Ile) c.601G>T c.1123G>T (p.Ala375Ser) c.1078G>T (p.Ala360Ser) c.425-1405G>T c.856G>T (p.Ala286Ser) c.*933G>T (n.*933G>T) | |
X | g.48904870C= | CA2428428807 | SLC35A2 | c.1039G= (p.Ala347=) c.377G= (p.Ser126=) c.449G= (p.Ser150=) c.601G= c.1123G= (p.Ala375=) c.1078G= (p.Ala360=) c.425-1405G= c.856G= (p.Ala286=) c.*933G= (n.*933G=) | |
X | g.48904870C>G | CA412894388 | SLC35A2 | c.1039G>C (p.Ala347Pro) c.377G>C (p.Ser126Thr) c.449G>C (p.Ser150Thr) c.601G>C c.1123G>C (p.Ala375Pro) c.1078G>C (p.Ala360Pro) c.425-1405G>C c.856G>C (p.Ala286Pro) c.*933G>C (n.*933G>C) | |
X | g.48904870C>T | CA10406070 | SLC35A2 | c.1039G>A (p.Ala347Thr) c.377G>A (p.Ser126Asn) c.449G>A (p.Ser150Asn) c.601G>A c.1123G>A (p.Ala375Thr) c.1078G>A (p.Ala360Thr) c.425-1405G>A c.856G>A (p.Ala286Thr) c.*933G>A (n.*933G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48904871T>A | CA412894390 | SLC35A2 | c.1038A>T (p.Lys346Asn) c.376A>T (p.Ser126Cys) c.448A>T (p.Ser150Cys) c.600A>T c.1122A>T (p.Lys374Asn) c.1077A>T (p.Lys359Asn) c.425-1406A>T c.855A>T (p.Lys285Asn) c.*932A>T (n.*932A>T) | |
X | g.48904871T>C | CA412894392 | SLC35A2 | c.1038A>G (p.Lys346=) c.376A>G (p.Ser126Gly) c.448A>G (p.Ser150Gly) c.600A>G c.1122A>G (p.Lys374=) c.1077A>G (p.Lys359=) c.425-1406A>G c.855A>G (p.Lys285=) c.*932A>G (n.*932A>G) | |
X | g.48904871T>G | CA412894394 | SLC35A2 | c.1038A>C (p.Lys346Asn) c.376A>C (p.Ser126Arg) c.448A>C (p.Ser150Arg) c.600A>C c.1122A>C (p.Lys374Asn) c.1077A>C (p.Lys359Asn) c.425-1406A>C c.855A>C (p.Lys285Asn) c.*932A>C (n.*932A>C) | |
X | g.48904872T>A | CA412894397 | SLC35A2 | c.1037A>T (p.Lys346Ile) c.375A>T (p.Gln125His) c.447A>T (p.Gln149His) c.599A>T c.1121A>T (p.Lys374Ile) c.1076A>T (p.Lys359Ile) c.425-1407A>T c.854A>T (p.Lys285Ile) c.*931A>T (n.*931A>T) | |
X | g.48904872T>C | CA412894399 | SLC35A2 | c.1037A>G (p.Lys346Arg) c.375A>G (p.Gln125=) c.447A>G (p.Gln149=) c.599A>G c.1121A>G (p.Lys374Arg) c.1076A>G (p.Lys359Arg) c.425-1407A>G c.854A>G (p.Lys285Arg) c.*931A>G (n.*931A>G) | |
X | g.48904872T>G | CA412894401 | SLC35A2 | c.1037A>C (p.Lys346Thr) c.375A>C (p.Gln125His) c.447A>C (p.Gln149His) c.599A>C c.1121A>C (p.Lys374Thr) c.1076A>C (p.Lys359Thr) c.425-1407A>C c.854A>C (p.Lys285Thr) c.*931A>C (n.*931A>C) | |
X | g.48904873T>A | CA412894403 | SLC35A2 | c.1036A>T (p.Lys346Ter) c.374A>T (p.Gln125Leu) c.446A>T (p.Gln149Leu) c.598A>T c.1120A>T (p.Lys374Ter) c.1075A>T (p.Lys359Ter) c.425-1408A>T c.853A>T (p.Lys285Ter) c.*930A>T (n.*930A>T) | |
X | g.48904873T>C | CA412894406 | SLC35A2 | c.1036A>G (p.Lys346Glu) c.374A>G (p.Gln125Arg) c.446A>G (p.Gln149Arg) c.598A>G c.1120A>G (p.Lys374Glu) c.1075A>G (p.Lys359Glu) c.425-1408A>G c.853A>G (p.Lys285Glu) c.*930A>G (n.*930A>G) | |
X | g.48904873T>G | CA412894409 | SLC35A2 | c.1036A>C (p.Lys346Gln) c.374A>C (p.Gln125Pro) c.446A>C (p.Gln149Pro) c.598A>C c.1120A>C (p.Lys374Gln) c.1075A>C (p.Lys359Gln) c.425-1408A>C c.853A>C (p.Lys285Gln) c.*930A>C (n.*930A>C) | |
X | g.48904874G>A | CA412894417 | SLC35A2 | c.1035C>T (p.Ala345=) c.373C>T (p.Gln125Ter) c.445C>T (p.Gln149Ter) c.597C>T c.1119C>T (p.Ala373=) c.1074C>T (p.Ala358=) c.425-1409C>T c.852C>T (p.Ala284=) c.*929C>T (n.*929C>T) | |
X | g.48904874G>C | CA412894415 | SLC35A2 | c.1035C>G (p.Ala345=) c.373C>G (p.Gln125Glu) c.445C>G (p.Gln149Glu) c.597C>G c.1119C>G (p.Ala373=) c.1074C>G (p.Ala358=) c.425-1409C>G c.852C>G (p.Ala284=) c.*929C>G (n.*929C>G) | |
X | g.48904874G>T | CA412894412 | SLC35A2 | c.1035C>A (p.Ala345=) c.373C>A (p.Gln125Lys) c.445C>A (p.Gln149Lys) c.597C>A c.1119C>A (p.Ala373=) c.1074C>A (p.Ala358=) c.425-1409C>A c.852C>A (p.Ala284=) c.*929C>A (n.*929C>A) | |
X | g.48904875G>A | CA412894419 | SLC35A2 | c.1034C>T (p.Ala345Val) c.372C>T (p.Ser124=) c.444C>T (p.Ser148=) c.596C>T c.1118C>T (p.Ala373Val) c.1073C>T (p.Ala358Val) c.425-1410C>T c.851C>T (p.Ala284Val) c.*928C>T (n.*928C>T) | |
X | g.48904875G>C | CA412894421 | SLC35A2 | c.1034C>G (p.Ala345Gly) c.372C>G (p.Ser124Arg) c.444C>G (p.Ser148Arg) c.596C>G c.1118C>G (p.Ala373Gly) c.1073C>G (p.Ala358Gly) c.425-1410C>G c.851C>G (p.Ala284Gly) c.*928C>G (n.*928C>G) | |
X | g.48904875G>T | CA412894422 | SLC35A2 | c.1034C>A (p.Ala345Asp) c.372C>A (p.Ser124Arg) c.444C>A (p.Ser148Arg) c.596C>A c.1118C>A (p.Ala373Asp) c.1073C>A (p.Ala358Asp) c.425-1410C>A c.851C>A (p.Ala284Asp) c.*928C>A (n.*928C>A) | |
X | g.48904876C>A | CA412894423 | SLC35A2 | c.1033G>T (p.Ala345Ser) c.371G>T (p.Ser124Ile) c.443G>T (p.Ser148Ile) c.595G>T c.1117G>T (p.Ala373Ser) c.1072G>T (p.Ala358Ser) c.425-1411G>T c.850G>T (p.Ala284Ser) c.*927G>T (n.*927G>T) | |
X | g.48904876C= | CA2428428808 | SLC35A2 | c.1033G= (p.Ala345=) c.371G= (p.Ser124=) c.443G= (p.Ser148=) c.595G= c.1117G= (p.Ala373=) c.1072G= (p.Ala358=) c.425-1411G= c.850G= (p.Ala284=) c.*927G= (n.*927G=) | |
X | g.48904876C>G | CA412894424 | SLC35A2 | c.1033G>C (p.Ala345Pro) c.371G>C (p.Ser124Thr) c.443G>C (p.Ser148Thr) c.595G>C c.1117G>C (p.Ala373Pro) c.1072G>C (p.Ala358Pro) c.425-1411G>C c.850G>C (p.Ala284Pro) c.*927G>C (n.*927G>C) | |
X | g.48904876C>T | CA412894426 | SLC35A2 | c.1033G>A (p.Ala345Thr) c.371G>A (p.Ser124Asn) c.443G>A (p.Ser148Asn) c.595G>A c.1117G>A (p.Ala373Thr) c.1072G>A (p.Ala358Thr) c.425-1411G>A c.850G>A (p.Ala284Thr) c.*927G>A (n.*927G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.48904877T>A | CA412894428 | SLC35A2 | c.1032A>T (p.Ala344=) c.370A>T (p.Ser124Cys) c.442A>T (p.Ser148Cys) c.594A>T c.1116A>T (p.Ala372=) c.1071A>T (p.Ala357=) c.425-1412A>T c.849A>T (p.Ala283=) c.*926A>T (n.*926A>T) | |
X | g.48904877T>C | CA10406071 | SLC35A2 | c.1032A>G (p.Ala344=) c.370A>G (p.Ser124Gly) c.442A>G (p.Ser148Gly) c.594A>G c.1116A>G (p.Ala372=) c.1071A>G (p.Ala357=) c.425-1412A>G c.849A>G (p.Ala283=) c.*926A>G (n.*926A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904877T>G | CA412894431 | SLC35A2 | c.1032A>C (p.Ala344=) c.370A>C (p.Ser124Arg) c.442A>C (p.Ser148Arg) c.594A>C c.1116A>C (p.Ala372=) c.1071A>C (p.Ala357=) c.425-1412A>C c.849A>C (p.Ala283=) c.*926A>C (n.*926A>C) | |
X | g.48904877T= | CA2428428809 | SLC35A2 | c.1032A= (p.Ala344=) c.370A= (p.Ser124=) c.442A= (p.Ser148=) c.594A= c.1116A= (p.Ala372=) c.1071A= (p.Ala357=) c.425-1412A= c.849A= (p.Ala283=) c.*926A= (n.*926A=) | |
X | g.48904878G>A | CA412894433 | SLC35A2 | c.1031C>T (p.Ala344Val) c.369C>T (p.Cys123=) c.441C>T (p.Cys147=) c.593C>T c.1115C>T (p.Ala372Val) c.1070C>T (p.Ala357Val) c.425-1413C>T c.848C>T (p.Ala283Val) c.*925C>T (n.*925C>T) | dbSNP |
X | g.48904878G>C | CA412894435 | SLC35A2 | c.1031C>G (p.Ala344Gly) c.369C>G (p.Cys123Trp) c.441C>G (p.Cys147Trp) c.593C>G c.1115C>G (p.Ala372Gly) c.1070C>G (p.Ala357Gly) c.425-1413C>G c.848C>G (p.Ala283Gly) c.*925C>G (n.*925C>G) | |
X | g.48904878G= | CA2428428810 | SLC35A2 | c.1031C= (p.Ala344=) c.369C= (p.Cys123=) c.441C= (p.Cys147=) c.593C= c.1115C= (p.Ala372=) c.1070C= (p.Ala357=) c.425-1413C= c.848C= (p.Ala283=) c.*925C= (n.*925C=) | |
X | g.48904878G>T | CA412894437 | SLC35A2 | c.1031C>A (p.Ala344Glu) c.369C>A (p.Cys123Ter) c.441C>A (p.Cys147Ter) c.593C>A c.1115C>A (p.Ala372Glu) c.1070C>A (p.Ala357Glu) c.425-1413C>A c.848C>A (p.Ala283Glu) c.*925C>A (n.*925C>A) | |
X | g.48904879C>A | CA10406072 | SLC35A2 | c.1030G>T (p.Ala344Ser) c.368G>T (p.Cys123Phe) c.440G>T (p.Cys147Phe) c.592G>T c.1114G>T (p.Ala372Ser) c.1069G>T (p.Ala357Ser) c.425-1414G>T c.847G>T (p.Ala283Ser) c.*924G>T (n.*924G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904879C= | CA2428428811 | SLC35A2 | c.1030G= (p.Ala344=) c.368G= (p.Cys123=) c.440G= (p.Cys147=) c.592G= c.1114G= (p.Ala372=) c.1069G= (p.Ala357=) c.425-1414G= c.847G= (p.Ala283=) c.*924G= (n.*924G=) | |
X | g.48904879C>G | CA412894439 | SLC35A2 | c.1030G>C (p.Ala344Pro) c.368G>C (p.Cys123Ser) c.440G>C (p.Cys147Ser) c.592G>C c.1114G>C (p.Ala372Pro) c.1069G>C (p.Ala357Pro) c.425-1414G>C c.847G>C (p.Ala283Pro) c.*924G>C (n.*924G>C) | |
X | g.48904879C>T | CA412894441 | SLC35A2 | c.1030G>A (p.Ala344Thr) c.368G>A (p.Cys123Tyr) c.440G>A (p.Cys147Tyr) c.592G>A c.1114G>A (p.Ala372Thr) c.1069G>A (p.Ala357Thr) c.425-1414G>A c.847G>A (p.Ala283Thr) c.*924G>A (n.*924G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48904880A>C | CA412894444 | SLC35A2 | c.1029T>G (p.Gly343=) c.367T>G (p.Cys123Gly) c.439T>G (p.Cys147Gly) c.591T>G c.1113T>G (p.Gly371=) c.1068T>G (p.Gly356=) c.425-1415T>G c.846T>G (p.Gly282=) c.*923T>G (n.*923T>G) | |
X | g.48904880A>G | CA412894446 | SLC35A2 | c.1029T>C (p.Gly343=) c.367T>C (p.Cys123Arg) c.439T>C (p.Cys147Arg) c.591T>C c.1113T>C (p.Gly371=) c.1068T>C (p.Gly356=) c.425-1415T>C c.846T>C (p.Gly282=) c.*923T>C (n.*923T>C) | |
X | g.48904880A>T | CA412894449 | SLC35A2 | c.1029T>A (p.Gly343=) c.367T>A (p.Cys123Ser) c.439T>A (p.Cys147Ser) c.591T>A c.1113T>A (p.Gly371=) c.1068T>A (p.Gly356=) c.425-1415T>A c.846T>A (p.Gly282=) c.*923T>A (n.*923T>A) | |
X | g.48904881C>A | CA412894451 | SLC35A2 | c.1028G>T (p.Gly343Val) c.366G>T (p.Arg122Ser) c.438G>T (p.Arg146Ser) c.590G>T c.1112G>T (p.Gly371Val) c.1067G>T (p.Gly356Val) c.425-1416G>T c.845G>T (p.Gly282Val) c.*922G>T (n.*922G>T) | |
X | g.48904881C= | CA2428428812 | SLC35A2 | c.1028G= (p.Gly343=) c.366G= (p.Arg122=) c.438G= (p.Arg146=) c.590G= c.1112G= (p.Gly371=) c.1067G= (p.Gly356=) c.425-1416G= c.845G= (p.Gly282=) c.*922G= (n.*922G=) | |
X | g.48904881C>G | CA412894453 | SLC35A2 | c.1028G>C (p.Gly343Ala) c.366G>C (p.Arg122Ser) c.438G>C (p.Arg146Ser) c.590G>C c.1112G>C (p.Gly371Ala) c.1067G>C (p.Gly356Ala) c.425-1416G>C c.845G>C (p.Gly282Ala) c.*922G>C (n.*922G>C) | |
X | g.48904881C>T | CA412894454 | SLC35A2 | c.1028G>A (p.Gly343Asp) c.366G>A (p.Arg122=) c.438G>A (p.Arg146=) c.590G>A c.1112G>A (p.Gly371Asp) c.1067G>A (p.Gly356Asp) c.425-1416G>A c.845G>A (p.Gly282Asp) c.*922G>A (n.*922G>A) | dbSNP |
X | g.48904882C>A | CA412894456 | SLC35A2 | c.1027G>T (p.Gly343Cys) c.365G>T (p.Arg122Met) c.437G>T (p.Arg146Met) c.589G>T c.1111G>T (p.Gly371Cys) c.1066G>T (p.Gly356Cys) c.425-1417G>T c.844G>T (p.Gly282Cys) c.*921G>T (n.*921G>T) | |
X | g.48904882C>G | CA412894458 | SLC35A2 | c.1027G>C (p.Gly343Arg) c.365G>C (p.Arg122Thr) c.437G>C (p.Arg146Thr) c.589G>C c.1111G>C (p.Gly371Arg) c.1066G>C (p.Gly356Arg) c.425-1417G>C c.844G>C (p.Gly282Arg) c.*921G>C (n.*921G>C) | |
X | g.48904882C>T | CA412894460 | SLC35A2 | c.1027G>A (p.Gly343Ser) c.365G>A (p.Arg122Lys) c.437G>A (p.Arg146Lys) c.589G>A c.1111G>A (p.Gly371Ser) c.1066G>A (p.Gly356Ser) c.425-1417G>A c.844G>A (p.Gly282Ser) c.*921G>A (n.*921G>A) | |
X | g.48904883T>A | CA412894462 | SLC35A2 | c.1026A>T (p.Arg342=) c.364A>T (p.Arg122Trp) c.436A>T (p.Arg146Trp) c.588A>T c.1110A>T (p.Arg370=) c.1065A>T (p.Arg355=) c.425-1418A>T c.843A>T (p.Arg281=) c.*920A>T (n.*920A>T) | |
X | g.48904883T>C | CA412894464 | SLC35A2 | c.1026A>G (p.Arg342=) c.364A>G (p.Arg122Gly) c.436A>G (p.Arg146Gly) c.588A>G c.1110A>G (p.Arg370=) c.1065A>G (p.Arg355=) c.425-1418A>G c.843A>G (p.Arg281=) c.*920A>G (n.*920A>G) | |
X | g.48904883T>G | CA516359950 | SLC35A2 | c.1026A>C (p.Arg342=) c.364A>C (p.Arg122=) c.436A>C (p.Arg146=) c.588A>C c.1110A>C (p.Arg370=) c.1065A>C (p.Arg355=) c.425-1418A>C c.843A>C (p.Arg281=) c.*920A>C (n.*920A>C) | |
X | g.48904884C>A | CA412894469 | SLC35A2 | c.1025G>T (p.Arg342Leu) c.363G>T (p.Pro121=) c.435G>T (p.Pro145=) c.587G>T c.1109G>T (p.Arg370Leu) c.1064G>T (p.Arg355Leu) c.425-1419G>T c.842G>T (p.Arg281Leu) c.*919G>T (n.*919G>T) | |
X | g.48904884C= | CA2428428813 | SLC35A2 | c.1025G= (p.Arg342=) c.363G= (p.Pro121=) c.435G= (p.Pro145=) c.587G= c.1109G= (p.Arg370=) c.1064G= (p.Arg355=) c.425-1419G= c.842G= (p.Arg281=) c.*919G= (n.*919G=) | |
X | g.48904884C>G | CA412894467 | SLC35A2 | c.1025G>C (p.Arg342Pro) c.363G>C (p.Pro121=) c.435G>C (p.Pro145=) c.587G>C c.1109G>C (p.Arg370Pro) c.1064G>C (p.Arg355Pro) c.425-1419G>C c.842G>C (p.Arg281Pro) c.*919G>C (n.*919G>C) | dbSNP gnomAD v2 |
X | g.48904884C>T | CA10406073 | SLC35A2 | c.1025G>A (p.Arg342Gln) c.363G>A (p.Pro121=) c.435G>A (p.Pro145=) c.587G>A c.1109G>A (p.Arg370Gln) c.1064G>A (p.Arg355Gln) c.425-1419G>A c.842G>A (p.Arg281Gln) c.*919G>A (n.*919G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
X | g.48904885G>A | CA412894471 | SLC35A2 | c.1024C>T (p.Arg342Ter) c.362C>T (p.Pro121Leu) c.434C>T (p.Pro145Leu) c.586C>T c.1108C>T (p.Arg370Ter) c.1063C>T (p.Arg355Ter) c.425-1420C>T c.841C>T (p.Arg281Ter) c.*918C>T (n.*918C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.48904885G>C | CA412894475 | SLC35A2 | c.1024C>G (p.Arg342Gly) c.362C>G (p.Pro121Arg) c.434C>G (p.Pro145Arg) c.586C>G c.1108C>G (p.Arg370Gly) c.1063C>G (p.Arg355Gly) c.425-1420C>G c.841C>G (p.Arg281Gly) c.*918C>G (n.*918C>G) | |
X | g.48904885G= | CA2428428814 | SLC35A2 | c.1024C= (p.Arg342=) c.362C= (p.Pro121=) c.434C= (p.Pro145=) c.586C= c.1108C= (p.Arg370=) c.1063C= (p.Arg355=) c.425-1420C= c.841C= (p.Arg281=) c.*918C= (n.*918C=) | |
X | g.48904885G>T | CA412894473 | SLC35A2 | c.1024C>A (p.Arg342=) c.362C>A (p.Pro121Gln) c.434C>A (p.Pro145Gln) c.586C>A c.1108C>A (p.Arg370=) c.1063C>A (p.Arg355=) c.425-1420C>A c.841C>A (p.Arg281=) c.*918C>A (n.*918C>A) | |
X | g.48904887_48904888del | CA2840092308 | SLC35A2 | c.1023_1024del (p.Gly343CysfsTer?) c.361_362del (p.Pro121GlufsTer7) c.433_434del (p.Pro145GlufsTer7) c.585_586del c.1107_1108del (p.Gly371CysfsTer?) c.1062_1063del (p.Gly356CysfsTer?) c.425-1421_425-1420del c.840_841del (p.Gly282CysfsTer?) c.*917_*918del (n.*917_*918del) | |
X | g.48904886G>A | CA412894476 | SLC35A2 | c.1023C>T (p.Pro341=) c.361C>T (p.Pro121Ser) c.433C>T (p.Pro145Ser) c.585C>T c.1107C>T (p.Pro369=) c.1062C>T (p.Pro354=) c.425-1421C>T c.840C>T (p.Pro280=) c.*917C>T (n.*917C>T) | gnomAD v4 |
X | g.48904886G>C | CA412894477 | SLC35A2 | c.1023C>G (p.Pro341=) c.361C>G (p.Pro121Ala) c.433C>G (p.Pro145Ala) c.585C>G c.1107C>G (p.Pro369=) c.1062C>G (p.Pro354=) c.425-1421C>G c.840C>G (p.Pro280=) c.*917C>G (n.*917C>G) | |
X | g.48904886G>T | CA412894479 | SLC35A2 | c.1023C>A (p.Pro341=) c.361C>A (p.Pro121Thr) c.433C>A (p.Pro145Thr) c.585C>A c.1107C>A (p.Pro369=) c.1062C>A (p.Pro354=) c.425-1421C>A c.840C>A (p.Pro280=) c.*917C>A (n.*917C>A) | dbSNP |
X | g.48904887G>A | CA412894481 | SLC35A2 | c.1022C>T (p.Pro341Leu) c.360C>T (p.Ser120=) c.432C>T (p.Ser144=) c.584C>T c.1106C>T (p.Pro369Leu) c.1061C>T (p.Pro354Leu) c.425-1422C>T c.839C>T (p.Pro280Leu) c.*916C>T (n.*916C>T) | |
X | g.48904887G>C | CA412894483 | SLC35A2 | c.1022C>G (p.Pro341Arg) c.360C>G (p.Ser120=) c.432C>G (p.Ser144=) c.584C>G c.1106C>G (p.Pro369Arg) c.1061C>G (p.Pro354Arg) c.425-1422C>G c.839C>G (p.Pro280Arg) c.*916C>G (n.*916C>G) | |
X | g.48904887G>T | CA412894485 | SLC35A2 | c.1022C>A (p.Pro341His) c.360C>A (p.Ser120=) c.432C>A (p.Ser144=) c.584C>A c.1106C>A (p.Pro369His) c.1061C>A (p.Pro354His) c.425-1422C>A c.839C>A (p.Pro280His) c.*916C>A (n.*916C>A) | |
X | g.48904888G>A | CA412894487 | SLC35A2 | c.1021C>T (p.Pro341Ser) c.359C>T (p.Ser120Phe) c.431C>T (p.Ser144Phe) c.583C>T c.1105C>T (p.Pro369Ser) c.1060C>T (p.Pro354Ser) c.425-1423C>T c.838C>T (p.Pro280Ser) c.*915C>T (n.*915C>T) | ClinVar |
X | g.48904888G>C | CA10406074 | SLC35A2 | c.1021C>G (p.Pro341Ala) c.359C>G (p.Ser120Cys) c.431C>G (p.Ser144Cys) c.583C>G c.1105C>G (p.Pro369Ala) c.1060C>G (p.Pro354Ala) c.425-1423C>G c.838C>G (p.Pro280Ala) c.*915C>G (n.*915C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48904888G= | CA2428428815 | SLC35A2 | c.1021C= (p.Pro341=) c.359C= (p.Ser120=) c.431C= (p.Ser144=) c.583C= c.1105C= (p.Pro369=) c.1060C= (p.Pro354=) c.425-1423C= c.838C= (p.Pro280=) c.*915C= (n.*915C=) | |
X | g.48904888G>T | CA412894490 | SLC35A2 | c.1021C>A (p.Pro341Thr) c.359C>A (p.Ser120Tyr) c.431C>A (p.Ser144Tyr) c.583C>A c.1105C>A (p.Pro369Thr) c.1060C>A (p.Pro354Thr) c.425-1423C>A c.838C>A (p.Pro280Thr) c.*915C>A (n.*915C>A) | |
X | g.48904889A>C | CA412894492 | SLC35A2 | c.1020T>G (p.Leu340=) c.358T>G (p.Ser120Ala) c.430T>G (p.Ser144Ala) c.582T>G c.1104T>G (p.Leu368=) c.1059T>G (p.Leu353=) c.425-1424T>G c.837T>G (p.Leu279=) c.*914T>G (n.*914T>G) | |
X | g.48904889A>G | CA412894494 | SLC35A2 | c.1020T>C (p.Leu340=) c.358T>C (p.Ser120Pro) c.430T>C (p.Ser144Pro) c.582T>C c.1104T>C (p.Leu368=) c.1059T>C (p.Leu353=) c.425-1424T>C c.837T>C (p.Leu279=) c.*914T>C (n.*914T>C) | |
X | g.48904889A>T | CA412894496 | SLC35A2 | c.1020T>A (p.Leu340=) c.358T>A (p.Ser120Thr) c.430T>A (p.Ser144Thr) c.582T>A c.1104T>A (p.Leu368=) c.1059T>A (p.Leu353=) c.425-1424T>A c.837T>A (p.Leu279=) c.*914T>A (n.*914T>A) | |
X | g.48904890A>C | CA412894498 | SLC35A2 | c.1019T>G (p.Leu340Arg) c.357T>G (p.Pro119=) c.429T>G (p.Pro143=) c.581T>G c.1103T>G (p.Leu368Arg) c.1058T>G (p.Leu353Arg) c.425-1425T>G c.836T>G (p.Leu279Arg) c.*913T>G (n.*913T>G) | |
X | g.48904890A>G | CA412894503 | SLC35A2 | c.1019T>C (p.Leu340Pro) c.357T>C (p.Pro119=) c.429T>C (p.Pro143=) c.581T>C c.1103T>C (p.Leu368Pro) c.1058T>C (p.Leu353Pro) c.425-1425T>C c.836T>C (p.Leu279Pro) c.*913T>C (n.*913T>C) | |
X | g.48904890A>T | CA412894501 | SLC35A2 | c.1019T>A (p.Leu340His) c.357T>A (p.Pro119=) c.429T>A (p.Pro143=) c.581T>A c.1103T>A (p.Leu368His) c.1058T>A (p.Leu353His) c.425-1425T>A c.836T>A (p.Leu279His) c.*913T>A (n.*913T>A) | |
X | g.48904891G>A | CA412894504 | SLC35A2 | c.1018C>T (p.Leu340Phe) c.356C>T (p.Pro119Leu) c.428C>T (p.Pro143Leu) c.580C>T c.1102C>T (p.Leu368Phe) c.1057C>T (p.Leu353Phe) c.425-1426C>T c.835C>T (p.Leu279Phe) c.*912C>T (n.*912C>T) | |
X | g.48904891G>C | CA412894505 | SLC35A2 | c.1018C>G (p.Leu340Val) c.356C>G (p.Pro119Arg) c.428C>G (p.Pro143Arg) c.580C>G c.1102C>G (p.Leu368Val) c.1057C>G (p.Leu353Val) c.425-1426C>G c.835C>G (p.Leu279Val) c.*912C>G (n.*912C>G) | |
X | g.48904891G>T | CA412894506 | SLC35A2 | c.1018C>A (p.Leu340Ile) c.356C>A (p.Pro119His) c.428C>A (p.Pro143His) c.580C>A c.1102C>A (p.Leu368Ile) c.1057C>A (p.Leu353Ile) c.425-1426C>A c.835C>A (p.Leu279Ile) c.*912C>A (n.*912C>A) | |
X | g.48904892G>A | CA412894507 | SLC35A2 | c.1017C>T (p.Ser339=) c.355C>T (p.Pro119Ser) c.427C>T (p.Pro143Ser) c.579C>T c.1101C>T (p.Ser367=) c.1056C>T (p.Ser352=) c.425-1427C>T c.834C>T (p.Ser278=) c.*911C>T (n.*911C>T) | |
X | g.48904892G>C | CA412894508 | SLC35A2 | c.1017C>G (p.Ser339Arg) c.355C>G (p.Pro119Ala) c.427C>G (p.Pro143Ala) c.579C>G c.1101C>G (p.Ser367Arg) c.1056C>G (p.Ser352Arg) c.425-1427C>G c.834C>G (p.Ser278Arg) c.*911C>G (n.*911C>G) | |
X | g.48904892G>T | CA412894509 | SLC35A2 | c.1017C>A (p.Ser339Arg) c.355C>A (p.Pro119Thr) c.427C>A (p.Pro143Thr) c.579C>A c.1101C>A (p.Ser367Arg) c.1056C>A (p.Ser352Arg) c.425-1427C>A c.834C>A (p.Ser278Arg) c.*911C>A (n.*911C>A) | |
X | g.48904893C>A | CA412894510 | SLC35A2 | c.1016G>T (p.Ser339Ile) c.355-1G>T (n.355-1G>T) c.427-1G>T (n.427-1G>T) c.578G>T c.1100G>T (p.Ser367Ile) c.1055G>T (p.Ser352Ile) c.425-1428G>T c.833G>T (p.Ser278Ile) c.*910G>T (n.*910G>T) | |
X | g.48904893C>G | CA412894511 | SLC35A2 | c.1016G>C (p.Ser339Thr) c.355-1G>C (n.355-1G>C) c.427-1G>C (n.427-1G>C) c.578G>C c.1100G>C (p.Ser367Thr) c.1055G>C (p.Ser352Thr) c.425-1428G>C c.833G>C (p.Ser278Thr) c.*910G>C (n.*910G>C) | |
X | g.48904893C>T | CA412894512 | SLC35A2 | c.1016G>A (p.Ser339Asn) c.355-1G>A (n.355-1G>A) c.427-1G>A (n.427-1G>A) c.578G>A c.1100G>A (p.Ser367Asn) c.1055G>A (p.Ser352Asn) c.425-1428G>A c.833G>A (p.Ser278Asn) c.*910G>A (n.*910G>A) | |
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) |