ClinVar Miner

List of variants studied for Glucose-6-phosphate transport defect by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 634
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001164277.2(SLC37A4):c.1224G>A (p.Thr408=) rs8192696 0.24916
NM_001164277.2(SLC37A4):c.-195-64C>T rs56258965 0.15980
NM_001164277.2(SLC37A4):c.626+19C>T rs741811 0.11102
NM_001164277.2(SLC37A4):c.183T>C (p.Ala61=) rs34123220 0.04470
NM_001164277.2(SLC37A4):c.539C>G (p.Ser180Cys) rs374991345 0.03070
NM_001164277.2(SLC37A4):c.1278G>A (p.Lys426=) rs34871377 0.01714
NM_001164277.2(SLC37A4):c.626+14C>T rs56394886 0.01293
NM_001164277.2(SLC37A4):c.149-14A>G rs79849261 0.01232
NM_001164277.2(SLC37A4):c.1275C>T (p.Ser425=) rs35010541 0.01045
NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=) rs61730035 0.00758
NM_001164277.2(SLC37A4):c.593A>T (p.Asn198Ile) rs34203644 0.00280
NM_001164277.2(SLC37A4):c.968C>T (p.Thr323Ile) rs202209699 0.00273
NM_001164277.2(SLC37A4):c.540C>T (p.Ser180=) rs371716153 0.00262
NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val) rs201036248 0.00214
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His) rs186476316 0.00076
NM_001164277.2(SLC37A4):c.628T>C (p.Ser210Pro) rs201101662 0.00073
NM_001164277.2(SLC37A4):c.785+6A>T rs369358436 0.00072
NM_001164277.2(SLC37A4):c.663G>A (p.Leu221=) rs150083315 0.00053
NM_001164277.2(SLC37A4):c.930C>T (p.Gly310=) rs148971334 0.00053
NM_001164277.2(SLC37A4):c.242C>T (p.Ser81Phe) rs181879065 0.00051
NM_001164277.2(SLC37A4):c.1168C>T (p.His390Tyr) rs199764888 0.00048
NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala) rs149974794 0.00046
NM_001164277.2(SLC37A4):c.205G>T (p.Val69Leu) rs375754042 0.00042
NM_001164277.2(SLC37A4):c.1240C>T (p.Leu414=) rs200703321 0.00041
NM_001164277.2(SLC37A4):c.100G>A (p.Val34Ile) rs782644732 0.00039
NM_001164277.2(SLC37A4):c.1012T>C (p.Phe338Leu) rs200662873 0.00036
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00026
NM_001164277.2(SLC37A4):c.857G>A (p.Arg286Gln) rs548684318 0.00019
NM_001164277.2(SLC37A4):c.174A>G (p.Ala58=) rs371347098 0.00014
NM_001164277.2(SLC37A4):c.1128C>T (p.Gly376=) rs200713586 0.00013
NM_001164277.2(SLC37A4):c.148+20G>A rs782050642 0.00013
NM_001164277.2(SLC37A4):c.294C>T (p.Ser98=) rs542959160 0.00011
NM_001164277.2(SLC37A4):c.150G>T (p.Gly50=) rs202137454 0.00010
NM_001164277.2(SLC37A4):c.71A>G (p.Tyr24Cys) rs569831771 0.00010
NM_001164277.2(SLC37A4):c.871+6C>T rs377101167 0.00010
NM_001164277.2(SLC37A4):c.956G>A (p.Arg319Gln) rs782703235 0.00010
NM_001164277.2(SLC37A4):c.230G>T (p.Arg77Leu) rs370839177 0.00009
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys) rs80356490 0.00008
NM_001164277.2(SLC37A4):c.201T>C (p.Ser67=) rs372405501 0.00008
NM_001164277.2(SLC37A4):c.496C>T (p.Arg166Cys) rs11552539 0.00007
NM_001164277.2(SLC37A4):c.567T>C (p.Asn189=) rs368678559 0.00007
NM_001164277.2(SLC37A4):c.1073C>T (p.Pro358Leu) rs782025581 0.00006
NM_001164277.2(SLC37A4):c.1125-7_1125-6del rs782342989 0.00006
NM_001164277.2(SLC37A4):c.149-16G>A rs373027415 0.00006
NM_001164277.2(SLC37A4):c.377G>A (p.Arg126Gln) rs78735156 0.00006
NM_001164277.2(SLC37A4):c.84C>G (p.Arg28=) rs568517935 0.00006
NM_001164277.2(SLC37A4):c.972T>C (p.Ser324=) rs781824710 0.00006
NM_001164277.2(SLC37A4):c.1026G>A (p.Ser342=) rs782777751 0.00005
NM_001164277.2(SLC37A4):c.594C>T (p.Asn198=) rs758536145 0.00005
NM_001164277.2(SLC37A4):c.631T>G (p.Leu211Val) rs537115620 0.00005
NM_001164277.2(SLC37A4):c.675C>T (p.Tyr225=) rs996440530 0.00005
NM_001164277.2(SLC37A4):c.80A>G (p.Asn27Ser) rs782308530 0.00005
NM_001164277.2(SLC37A4):c.943A>G (p.Met315Val) rs782475284 0.00005
NM_001164277.2(SLC37A4):c.112T>C (p.Leu38=) rs376965474 0.00004
NM_001164277.2(SLC37A4):c.1159A>G (p.Ile387Val) rs782480303 0.00004
NM_001164277.2(SLC37A4):c.1220G>C (p.Ser407Thr) rs863224212 0.00004
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter) rs121908979 0.00004
NM_001164277.2(SLC37A4):c.29G>A (p.Arg10His) rs782500443 0.00004
NM_001164277.2(SLC37A4):c.382-17C>T rs1369693461 0.00004
NM_001164277.2(SLC37A4):c.626+13C>T rs746096087 0.00004
NM_001164277.2(SLC37A4):c.700C>T (p.Leu234Phe) rs782616313 0.00004
NM_001164277.2(SLC37A4):c.703G>T (p.Val235Leu) rs141105181 0.00004
NM_001164277.2(SLC37A4):c.785+3A>G rs373543021 0.00004
NM_001164277.2(SLC37A4):c.871+17G>T rs199848791 0.00004
NM_001164277.2(SLC37A4):c.141T>G (p.Asp47Glu) rs373540523 0.00003
NM_001164277.2(SLC37A4):c.171G>A (p.Ser57=) rs782713974 0.00003
NM_001164277.2(SLC37A4):c.381+15A>G rs1057520372 0.00003
NM_001164277.2(SLC37A4):c.390G>A (p.Glu130=) rs752687782 0.00003
NM_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu) rs193302892 0.00003
NM_001164277.2(SLC37A4):c.515C>T (p.Ser172Phe) rs750732128 0.00003
NM_001164277.2(SLC37A4):c.544C>T (p.Leu182Phe) rs775311483 0.00003
NM_001164277.2(SLC37A4):c.590G>A (p.Arg197His) rs377180238 0.00003
NM_001164277.2(SLC37A4):c.834C>T (p.Ile278=) rs781864019 0.00003
NM_001164277.2(SLC37A4):c.878T>C (p.Leu293Pro) rs886042302 0.00003
NM_001164277.2(SLC37A4):c.986-18C>T rs374784735 0.00003
NM_001164277.2(SLC37A4):c.1008T>G (p.Ala336=) rs782726848 0.00002
NM_001164277.2(SLC37A4):c.1098C>T (p.His366=) rs782587864 0.00002
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr) rs80356492 0.00002
NM_001164277.2(SLC37A4):c.1124+18G>C rs1555190434 0.00002
NM_001164277.2(SLC37A4):c.1129G>A (p.Gly377Ser) rs782255299 0.00002
NM_001164277.2(SLC37A4):c.1175G>A (p.Ser392Asn) rs1035199340 0.00002
NM_001164277.2(SLC37A4):c.1179G>A (p.Trp393Ter) rs902775927 0.00002
NM_001164277.2(SLC37A4):c.1252C>T (p.Arg418Cys) rs376140990 0.00002
NM_001164277.2(SLC37A4):c.149-7C>T rs1316874319 0.00002
NM_001164277.2(SLC37A4):c.382-10T>C rs914753772 0.00002
NM_001164277.2(SLC37A4):c.382-4A>C rs923058912 0.00002
NM_001164277.2(SLC37A4):c.460del (p.Ile154fs) rs769726248 0.00002
NM_001164277.2(SLC37A4):c.462C>A (p.Ile154=) rs1309434778 0.00002
NM_001164277.2(SLC37A4):c.558C>T (p.Leu186=) rs745721191 0.00002
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter) rs781784543 0.00002
NM_001164277.2(SLC37A4):c.785+12A>G rs976964945 0.00002
NM_001164277.2(SLC37A4):c.839C>T (p.Ala280Val) rs555640045 0.00002
NM_001164277.2(SLC37A4):c.944T>C (p.Met315Thr) rs781834870 0.00002
NM_001164277.2(SLC37A4):c.955C>T (p.Arg319Trp) rs376730573 0.00002
NM_001164277.2(SLC37A4):c.991A>G (p.Ile331Val) rs201967384 0.00002
NM_001164277.2(SLC37A4):c.102C>A (p.Val34=) rs1277712643 0.00001
NM_001164277.2(SLC37A4):c.1068T>C (p.Ser356=) rs946752823 0.00001
NM_001164277.2(SLC37A4):c.1084T>G (p.Cys362Gly) rs958173659 0.00001
NM_001164277.2(SLC37A4):c.1092C>T (p.Thr364=) rs1483400314 0.00001
NM_001164277.2(SLC37A4):c.1103T>C (p.Ile368Thr) rs370696612 0.00001
NM_001164277.2(SLC37A4):c.110C>A (p.Ser37Ter) rs1444468055 0.00001
NM_001164277.2(SLC37A4):c.1118C>G (p.Ala373Gly) rs193302901 0.00001
NM_001164277.2(SLC37A4):c.1124+1G>T rs782630676 0.00001
NM_001164277.2(SLC37A4):c.1124+2dup rs1459811938 0.00001
NM_001164277.2(SLC37A4):c.1124+8T>C rs377506675 0.00001
NM_001164277.2(SLC37A4):c.1125-6T>C rs782323567 0.00001
NM_001164277.2(SLC37A4):c.1130G>A (p.Gly377Asp) rs782665493 0.00001
NM_001164277.2(SLC37A4):c.1208T>C (p.Ile403Thr) rs1555190374 0.00001
NM_001164277.2(SLC37A4):c.1209T>C (p.Ile403=) rs782074488 0.00001
NM_001164277.2(SLC37A4):c.1214C>T (p.Ala405Val) rs782753044 0.00001
NM_001164277.2(SLC37A4):c.1215G>A (p.Ala405=) rs1043721709 0.00001
NM_001164277.2(SLC37A4):c.145T>G (p.Leu49Val) rs1277675258 0.00001
NM_001164277.2(SLC37A4):c.149-3C>T rs782625122 0.00001
NM_001164277.2(SLC37A4):c.185T>G (p.Ile62Ser) rs1555191621 0.00001
NM_001164277.2(SLC37A4):c.186C>T (p.Ile62=) rs1452761654 0.00001
NM_001164277.2(SLC37A4):c.1A>G (p.Met1Val) rs786204740 0.00001
NM_001164277.2(SLC37A4):c.202G>T (p.Gly68Trp) rs193302885 0.00001
NM_001164277.2(SLC37A4):c.21C>G (p.Gly7=) rs370153031 0.00001
NM_001164277.2(SLC37A4):c.231C>G (p.Arg77=) rs1478378942 0.00001
NM_001164277.2(SLC37A4):c.237C>T (p.Leu79=) rs546808955 0.00001
NM_001164277.2(SLC37A4):c.23A>G (p.Tyr8Cys) rs782446107 0.00001
NM_001164277.2(SLC37A4):c.264C>T (p.Gly88=) rs782292086 0.00001
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter) rs121908976 0.00001
NM_001164277.2(SLC37A4):c.297A>G (p.Thr99=) rs1273132953 0.00001
NM_001164277.2(SLC37A4):c.310G>A (p.Ala104Thr) rs781808875 0.00001
NM_001164277.2(SLC37A4):c.323T>C (p.Phe108Ser) rs1210339491 0.00001
NM_001164277.2(SLC37A4):c.340C>T (p.Gln114Ter) rs782313064 0.00001
NM_001164277.2(SLC37A4):c.346C>T (p.Leu116=) rs191768893 0.00001
NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg) rs80356489 0.00001
NM_001164277.2(SLC37A4):c.357C>G (p.Pro119=) rs782358834 0.00001
NM_001164277.2(SLC37A4):c.376C>T (p.Arg126Trp) rs946341075 0.00001
NM_001164277.2(SLC37A4):c.381+2T>G rs782645078 0.00001
NM_001164277.2(SLC37A4):c.382-16G>A rs778665353 0.00001
NM_001164277.2(SLC37A4):c.399G>A (p.Gln133=) rs767772187 0.00001
NM_001164277.2(SLC37A4):c.433A>G (p.Met145Val) rs863224210 0.00001
NM_001164277.2(SLC37A4):c.443C>T (p.Ala148Val) rs193302879 0.00001
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg) rs193302883 0.00001
NM_001164277.2(SLC37A4):c.456C>T (p.Gly152=) rs1943620012 0.00001
NM_001164277.2(SLC37A4):c.458C>T (p.Pro153Leu) rs193302890 0.00001
NM_001164277.2(SLC37A4):c.465G>C (p.Leu155=) rs776272750 0.00001
NM_001164277.2(SLC37A4):c.479C>G (p.Ala160Gly) rs1438731101 0.00001
NM_001164277.2(SLC37A4):c.489C>T (p.Tyr163=) rs745606440 0.00001
NM_001164277.2(SLC37A4):c.503C>T (p.Thr168Met) rs754982680 0.00001
NM_001164277.2(SLC37A4):c.504G>A (p.Thr168=) rs751791093 0.00001
NM_001164277.2(SLC37A4):c.507G>A (p.Leu169=) rs1326476812 0.00001
NM_001164277.2(SLC37A4):c.513A>G (p.Leu171=) rs1943617167 0.00001
NM_001164277.2(SLC37A4):c.591C>T (p.Arg197=) rs1476372585 0.00001
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp) rs193302881 0.00001
NM_001164277.2(SLC37A4):c.625G>C (p.Gly209Arg) rs1272300904 0.00001
NM_001164277.2(SLC37A4):c.626+12C>T rs549251533 0.00001
NM_001164277.2(SLC37A4):c.626+9C>T rs1316816882 0.00001
NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter) rs551439289 0.00001
NM_001164277.2(SLC37A4):c.68T>A (p.Leu23Gln) rs781982938 0.00001
NM_001164277.2(SLC37A4):c.699C>T (p.Tyr233=) rs1197991440 0.00001
NM_001164277.2(SLC37A4):c.69G>A (p.Leu23=) rs1256797588 0.00001
NM_001164277.2(SLC37A4):c.756C>T (p.Ile252=) rs1943586351 0.00001
NM_001164277.2(SLC37A4):c.761A>G (p.Glu254Gly) rs781834348 0.00001
NM_001164277.2(SLC37A4):c.76T>C (p.Phe26Leu) rs1468641405 0.00001
NM_001164277.2(SLC37A4):c.777C>T (p.Ala259=) rs529075134 0.00001
NM_001164277.2(SLC37A4):c.781G>A (p.Val261Ile) rs561701030 0.00001
NM_001164277.2(SLC37A4):c.785+13T>C rs1351380633 0.00001
NM_001164277.2(SLC37A4):c.785+16G>A rs1283553362 0.00001
NM_001164277.2(SLC37A4):c.786-10C>T rs782502549 0.00001
NM_001164277.2(SLC37A4):c.786-7A>G rs781887799 0.00001
NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys) rs193302889 0.00001
NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys) rs193302882 0.00001
NM_001164277.2(SLC37A4):c.831C>T (p.Ser277=) rs996156142 0.00001
NM_001164277.2(SLC37A4):c.833T>A (p.Ile278Asn) rs193302900 0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His) rs121908978 0.00001
NM_001164277.2(SLC37A4):c.846C>T (p.Tyr282=) rs372837897 0.00001
NM_001164277.2(SLC37A4):c.871+7G>A rs782177602 0.00001
NM_001164277.2(SLC37A4):c.872-11T>C rs1265857875 0.00001
NM_001164277.2(SLC37A4):c.872-6C>G rs781985446 0.00001
NM_001164277.2(SLC37A4):c.888C>T (p.Tyr296=) rs782326705 0.00001
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys) rs193302880 0.00001
NM_001164277.2(SLC37A4):c.923T>C (p.Met308Thr) rs1555190738 0.00001
NM_001164277.2(SLC37A4):c.936dup (p.Val313fs) rs782172072 0.00001
NM_001164277.2(SLC37A4):c.940T>C (p.Ser314Pro) rs1365079218 0.00001
NM_001164277.2(SLC37A4):c.963A>G (p.Thr321=) rs1388219398 0.00001
NM_001164277.2(SLC37A4):c.986-12T>C rs1180556897 0.00001
NM_001164277.2(SLC37A4):c.986-15C>T rs782640506 0.00001
NM_001164277.2(SLC37A4):c.986-8C>T rs782425309 0.00001
NM_001164277.2(SLC37A4):c.989G>C (p.Trp330Ser) rs782282206 0.00001
NC_000011.10:g.(?_119024900)_(119029379_?)del
NC_000011.10:g.(?_119028174)_(119029389_?)del
NC_000011.9:g.(?_117856768)_(118972385_?)dup
NC_000011.9:g.(?_118895600)_(118972385_?)dup
NC_000011.9:g.(?_118899922)_(118900089_?)del
NM_001164277.1(SLC37A4):c.529_533del rs2089891548
NM_001164277.2(SLC37A4):c.1004G>A (p.Gly335Glu) rs1326123837
NM_001164277.2(SLC37A4):c.1011A>G (p.Val337=) rs2134628485
NM_001164277.2(SLC37A4):c.1013T>C (p.Phe338Ser)
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp) rs121908980
NM_001164277.2(SLC37A4):c.1019_1038del (p.Phe340fs) rs1943525176
NM_001164277.2(SLC37A4):c.1022C>T (p.Ser341Phe) rs938040106
NM_001164277.2(SLC37A4):c.1023C>T (p.Ser341=) rs1555190535
NM_001164277.2(SLC37A4):c.1025C>T (p.Ser342Leu)
NM_001164277.2(SLC37A4):c.1026G>C (p.Ser342=)
NM_001164277.2(SLC37A4):c.1028_1036delinsTGCCTCG (p.Tyr343fs)
NM_001164277.2(SLC37A4):c.1036A>C (p.Ile346Leu)
NM_001164277.2(SLC37A4):c.1036A>G (p.Ile346Val)
NM_001164277.2(SLC37A4):c.1038T>C (p.Ile346=)
NM_001164277.2(SLC37A4):c.1047T>C (p.Phe349=) rs368615623
NM_001164277.2(SLC37A4):c.1049_1052del (p.Gly350fs) rs2134628172
NM_001164277.2(SLC37A4):c.1054A>G (p.Ile352Val) rs1943524404
NM_001164277.2(SLC37A4):c.1063G>T (p.Glu355Ter) rs121908975
NM_001164277.2(SLC37A4):c.1063_1064delinsAG (p.Glu355Arg)
NM_001164277.2(SLC37A4):c.1064A>C (p.Glu355Ala)
NM_001164277.2(SLC37A4):c.1065del (p.Ser356fs)
NM_001164277.2(SLC37A4):c.1067G>C (p.Ser356Thr) rs547488738
NM_001164277.2(SLC37A4):c.1071C>T (p.Ala357=) rs1555190486
NM_001164277.2(SLC37A4):c.1072C>T (p.Pro358Ser)
NM_001164277.2(SLC37A4):c.1074T>C (p.Pro358=) rs1592108548
NM_001164277.2(SLC37A4):c.1077C>G (p.Pro359=) rs1555190477
NM_001164277.2(SLC37A4):c.1079del (p.Asn360fs)
NM_001164277.2(SLC37A4):c.107C>T (p.Pro36Leu) rs781797026
NM_001164277.2(SLC37A4):c.1083G>A (p.Leu361=)
NM_001164277.2(SLC37A4):c.1085G>C (p.Cys362Ser)
NM_001164277.2(SLC37A4):c.1089C>T (p.Gly363=) rs2134627864
NM_001164277.2(SLC37A4):c.1095C>T (p.Ser365=) rs2134627842
NM_001164277.2(SLC37A4):c.1099G>C (p.Ala367Pro)
NM_001164277.2(SLC37A4):c.1101C>T (p.Ala367=) rs1555190455
NM_001164277.2(SLC37A4):c.1104T>C (p.Ile368=)
NM_001164277.2(SLC37A4):c.1113C>T (p.Leu371=) rs1592108432
NM_001164277.2(SLC37A4):c.1115T>C (p.Met372Thr) rs1555190443
NM_001164277.2(SLC37A4):c.1117G>A (p.Ala373Thr) rs1565686175
NM_001164277.2(SLC37A4):c.111A>G (p.Ser37=)
NM_001164277.2(SLC37A4):c.1121A>G (p.Asn374Ser)
NM_001164277.2(SLC37A4):c.1124+12C>T
NM_001164277.2(SLC37A4):c.1124+17A>G
NM_001164277.2(SLC37A4):c.1124+1G>C rs782630676
NM_001164277.2(SLC37A4):c.1124+20G>A
NM_001164277.2(SLC37A4):c.1124+3_1124+6del rs782612223
NM_001164277.2(SLC37A4):c.1124+4A>C
NM_001164277.2(SLC37A4):c.1124+5G>A rs2134627689
NM_001164277.2(SLC37A4):c.1124+7G>A rs1555190438
NM_001164277.2(SLC37A4):c.1124T>C (p.Val375Ala)
NM_001164277.2(SLC37A4):c.1125-10C>G
NM_001164277.2(SLC37A4):c.1125-11C>A
NM_001164277.2(SLC37A4):c.1125-12T>A rs2134627316
NM_001164277.2(SLC37A4):c.1125-14T>C rs1555190405
NM_001164277.2(SLC37A4):c.1125-15C>G
NM_001164277.2(SLC37A4):c.1125-3C>A
NM_001164277.2(SLC37A4):c.1125-4A>G
NM_001164277.2(SLC37A4):c.1125-6T>G rs782323567
NM_001164277.2(SLC37A4):c.1125-6del rs1565686054
NM_001164277.2(SLC37A4):c.1125-7C>A
NM_001164277.2(SLC37A4):c.1125-7dup
NM_001164277.2(SLC37A4):c.1125-9C>T rs1592108198
NM_001164277.2(SLC37A4):c.1127G>A (p.Gly376Asp) rs781962569
NM_001164277.2(SLC37A4):c.1134T>C (p.Phe378=)
NM_001164277.2(SLC37A4):c.1135C>T (p.Leu379=) rs962377661
NM_001164277.2(SLC37A4):c.1149C>G (p.Pro383=) rs2134627010
NM_001164277.2(SLC37A4):c.1152C>T (p.Phe384=) rs1943511879
NM_001164277.2(SLC37A4):c.1158C>A (p.Thr386=) rs1943511456
NM_001164277.2(SLC37A4):c.1158C>T (p.Thr386=) rs1943511456
NM_001164277.2(SLC37A4):c.1167G>A (p.Lys389=) rs1943511012
NM_001164277.2(SLC37A4):c.1170C>T (p.His390=)
NM_001164277.2(SLC37A4):c.1172_1173insT (p.Ser392fs)
NM_001164277.2(SLC37A4):c.1173C>T (p.Tyr391=) rs1555190394
NM_001164277.2(SLC37A4):c.1175del (p.Ser392fs)
NM_001164277.2(SLC37A4):c.1176T>A (p.Ser392Arg) rs782552989
NM_001164277.2(SLC37A4):c.1176T>C (p.Ser392=)
NM_001164277.2(SLC37A4):c.1176T>G (p.Ser392Arg) rs782552989
NM_001164277.2(SLC37A4):c.1178G>A (p.Trp393Ter) rs2134626765
NM_001164277.2(SLC37A4):c.117G>T (p.Val39=)
NM_001164277.2(SLC37A4):c.1190del (p.Phe397fs)
NM_001164277.2(SLC37A4):c.1197G>C (p.Val399=) rs2134626678
NM_001164277.2(SLC37A4):c.11del (p.Gln4fs) rs2134644472
NM_001164277.2(SLC37A4):c.1201_1218dup (p.Ala406_Ser407insGluValIleCysAlaAla)
NM_001164277.2(SLC37A4):c.1206G>A (p.Val402=)
NM_001164277.2(SLC37A4):c.1206G>T (p.Val402=) rs781909798
NM_001164277.2(SLC37A4):c.1212T>A (p.Cys404Ter)
NM_001164277.2(SLC37A4):c.1216G>C (p.Ala406Pro)
NM_001164277.2(SLC37A4):c.1221C>T (p.Ser407=) rs1592107877
NM_001164277.2(SLC37A4):c.122A>G (p.Glu41Gly) rs782470624
NM_001164277.2(SLC37A4):c.1230C>T (p.Ala410=) rs1555190367
NM_001164277.2(SLC37A4):c.1231_1232delinsGC (p.Phe411Ala)
NM_001164277.2(SLC37A4):c.1242A>G (p.Leu414=) rs2134626404
NM_001164277.2(SLC37A4):c.1248C>T (p.Asn416=) rs2134626360
NM_001164277.2(SLC37A4):c.1249A>G (p.Ile417Val)
NM_001164277.2(SLC37A4):c.1256C>T (p.Thr419Ile) rs782594411
NM_001164277.2(SLC37A4):c.1257C>T (p.Thr419=)
NM_001164277.2(SLC37A4):c.1258A>G (p.Lys420Glu) rs890913792
NM_001164277.2(SLC37A4):c.1265G>C (p.Gly422Ala) rs2134626279
NM_001164277.2(SLC37A4):c.1271T>A (p.Val424Glu)
NM_001164277.2(SLC37A4):c.1277A>G (p.Lys426Arg)
NM_001164277.2(SLC37A4):c.1279_1280delinsGC (p.Lys427Ala)
NM_001164277.2(SLC37A4):c.127C>T (p.Pro43Ser) rs781846380
NM_001164277.2(SLC37A4):c.1287G>A (p.Glu429=)
NM_001164277.2(SLC37A4):c.1287G>C (p.Glu429Asp) rs1483724786
NM_001164277.2(SLC37A4):c.1287_1290del (p.Ter430GluextTer?) rs1592107594
NM_001164277.2(SLC37A4):c.1289G>A (p.Ter430=)
NM_001164277.2(SLC37A4):c.131T>C (p.Leu44Ser)
NM_001164277.2(SLC37A4):c.135C>T (p.Asp45=) rs1943673151
NM_001164277.2(SLC37A4):c.137A>G (p.Lys46Arg)
NM_001164277.2(SLC37A4):c.138G>A (p.Lys46=) rs1555191835
NM_001164277.2(SLC37A4):c.13G>A (p.Gly5Ser) rs571267951
NM_001164277.2(SLC37A4):c.13G>C (p.Gly5Arg) rs571267951
NM_001164277.2(SLC37A4):c.13GGCTAT[3] (p.5GY[3]) rs782663171
NM_001164277.2(SLC37A4):c.141T>C (p.Asp47=) rs373540523
NM_001164277.2(SLC37A4):c.148+16G>A rs2134643318
NM_001164277.2(SLC37A4):c.148+1G>A rs1943672400
NM_001164277.2(SLC37A4):c.148+20G>C
NM_001164277.2(SLC37A4):c.148+2T>C rs1449998297
NM_001164277.2(SLC37A4):c.148+4A>G rs1943672237
NM_001164277.2(SLC37A4):c.148+6C>T rs1565691594
NM_001164277.2(SLC37A4):c.148+7_148+8del
NM_001164277.2(SLC37A4):c.149-11G>A rs1555191644
NM_001164277.2(SLC37A4):c.149-17T>C
NM_001164277.2(SLC37A4):c.149-18G>C
NM_001164277.2(SLC37A4):c.149-20A>G rs1555191648
NM_001164277.2(SLC37A4):c.149-2A>G
NM_001164277.2(SLC37A4):c.149-6del rs2134640825
NM_001164277.2(SLC37A4):c.149-8C>G
NM_001164277.2(SLC37A4):c.149-9T>C
NM_001164277.2(SLC37A4):c.149G>A (p.Gly50Glu) rs193302877
NM_001164277.2(SLC37A4):c.149G>T (p.Gly50Val) rs193302877
NM_001164277.2(SLC37A4):c.14G>A (p.Gly5Asp) rs2134644442
NM_001164277.2(SLC37A4):c.150G>C (p.Gly50=) rs202137454
NM_001164277.2(SLC37A4):c.153C>T (p.Phe51=) rs1352116986
NM_001164277.2(SLC37A4):c.154A>C (p.Ile52Leu) rs1565690903
NM_001164277.2(SLC37A4):c.156C>T (p.Ile52=)
NM_001164277.2(SLC37A4):c.159C>G (p.Thr53=) rs2134640708
NM_001164277.2(SLC37A4):c.15C>T (p.Gly5=) rs1555191904
NM_001164277.2(SLC37A4):c.163A>C (p.Ser55Arg) rs193302884
NM_001164277.2(SLC37A4):c.165C>T (p.Ser55=) rs782548085
NM_001164277.2(SLC37A4):c.169_175del (p.Ser57fs) rs782501672
NM_001164277.2(SLC37A4):c.170C>A (p.Ser57Ter) rs374848317
NM_001164277.2(SLC37A4):c.180T>C (p.Tyr60=)
NM_001164277.2(SLC37A4):c.180T>G (p.Tyr60Ter)
NM_001164277.2(SLC37A4):c.184A>G (p.Ile62Val) rs1555191625
NM_001164277.2(SLC37A4):c.189C>G (p.Ser63Arg) rs1359256648
NM_001164277.2(SLC37A4):c.191A>G (p.Lys64Arg)
NM_001164277.2(SLC37A4):c.195T>C (p.Phe65=)
NM_001164277.2(SLC37A4):c.195dup (p.Val66fs)
NM_001164277.2(SLC37A4):c.202G>A (p.Gly68Arg) rs193302885
NM_001164277.2(SLC37A4):c.207G>A (p.Val69=) rs1295497535
NM_001164277.2(SLC37A4):c.210G>T (p.Leu70=) rs2134640432
NM_001164277.2(SLC37A4):c.217C>G (p.Gln73Glu) rs1555191604
NM_001164277.2(SLC37A4):c.217C>T (p.Gln73Ter) rs1555191604
NM_001164277.2(SLC37A4):c.226G>C (p.Ala76Pro) rs948802122
NM_001164277.2(SLC37A4):c.227C>T (p.Ala76Val) rs782429783
NM_001164277.2(SLC37A4):c.229C>A (p.Arg77Ser) rs1417623185
NM_001164277.2(SLC37A4):c.229C>G (p.Arg77Gly)
NM_001164277.2(SLC37A4):c.229C>T (p.Arg77Cys)
NM_001164277.2(SLC37A4):c.230G>A (p.Arg77His) rs370839177
NM_001164277.2(SLC37A4):c.232T>C (p.Trp78Arg)
NM_001164277.2(SLC37A4):c.233G>A (p.Trp78Ter)
NM_001164277.2(SLC37A4):c.240C>T (p.Phe80=)
NM_001164277.2(SLC37A4):c.243T>G (p.Ser81=)
NM_001164277.2(SLC37A4):c.248G>A (p.Gly83Glu) rs2134640168
NM_001164277.2(SLC37A4):c.252G>T (p.Leu84=)
NM_001164277.2(SLC37A4):c.255C>A (p.Leu85=) rs2134640137
NM_001164277.2(SLC37A4):c.258G>C (p.Leu86=) rs1555191590
NM_001164277.2(SLC37A4):c.264C>A (p.Gly88=) rs782292086
NM_001164277.2(SLC37A4):c.267G>A (p.Leu89=) rs2134640047
NM_001164277.2(SLC37A4):c.274A>G (p.Ile92Val) rs1280285676
NM_001164277.2(SLC37A4):c.279del (p.Phe94fs)
NM_001164277.2(SLC37A4):c.27T>C (p.Tyr9=) rs2134644380
NM_001164277.2(SLC37A4):c.285C>G (p.Ala95=) rs2134639947
NM_001164277.2(SLC37A4):c.28C>G (p.Arg10Gly) rs546577012
NM_001164277.2(SLC37A4):c.291C>T (p.Ser97=) rs561054469
NM_001164277.2(SLC37A4):c.294del (p.Thr99fs)
NM_001164277.2(SLC37A4):c.301C>G (p.Pro101Ala)
NM_001164277.2(SLC37A4):c.303T>C (p.Pro101=) rs782803340
NM_001164277.2(SLC37A4):c.309T>G (p.Phe103Leu) rs1171686379
NM_001164277.2(SLC37A4):c.312T>C (p.Ala104=) rs2134639818
NM_001164277.2(SLC37A4):c.318C>G (p.Leu106=) rs11552540
NM_001164277.2(SLC37A4):c.31A>C (p.Thr11Pro) rs1399227780
NM_001164277.2(SLC37A4):c.330T>C (p.Asn110=)
NM_001164277.2(SLC37A4):c.332G>A (p.Gly111Asp) rs1356550790
NM_001164277.2(SLC37A4):c.334C>T (p.Leu112=)
NM_001164277.2(SLC37A4):c.335dup (p.Ala113fs) rs2134639714
NM_001164277.2(SLC37A4):c.337G>A (p.Ala113Thr)
NM_001164277.2(SLC37A4):c.339C>T (p.Ala113=) rs1376674013
NM_001164277.2(SLC37A4):c.344_345dup (p.Leu116fs) rs782604758
NM_001164277.2(SLC37A4):c.345G>A (p.Gly115=) rs782188658
NM_001164277.2(SLC37A4):c.345G>T (p.Gly115=) rs782188658
NM_001164277.2(SLC37A4):c.345dup (p.Leu116fs) rs782604758
NM_001164277.2(SLC37A4):c.347T>C (p.Leu116Pro)
NM_001164277.2(SLC37A4):c.349G>A (p.Gly117Ser)
NM_001164277.2(SLC37A4):c.351C>T (p.Gly117=) rs1311198538
NM_001164277.2(SLC37A4):c.355C>T (p.Pro119Ser) rs1158229491
NM_001164277.2(SLC37A4):c.356C>G (p.Pro119Arg)
NM_001164277.2(SLC37A4):c.358C>T (p.Pro120Ser) rs1045954164
NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs) rs1182102272
NM_001164277.2(SLC37A4):c.364G>A (p.Gly122Arg) rs1254956942
NM_001164277.2(SLC37A4):c.366G>A (p.Gly122=) rs1555191518
NM_001164277.2(SLC37A4):c.369G>A (p.Lys123=) rs1218213940
NM_001164277.2(SLC37A4):c.369G>T (p.Lys123Asn)
NM_001164277.2(SLC37A4):c.372C>T (p.Val124=) rs137940481
NM_001164277.2(SLC37A4):c.375G>A (p.Leu125=)
NM_001164277.2(SLC37A4):c.381+18G>T
NM_001164277.2(SLC37A4):c.381+1G>A rs786204637
NM_001164277.2(SLC37A4):c.381+1G>T rs786204637
NM_001164277.2(SLC37A4):c.381+5G>A
NM_001164277.2(SLC37A4):c.381+8C>T rs782284449
NM_001164277.2(SLC37A4):c.381G>A (p.Lys127=) rs1315203966
NM_001164277.2(SLC37A4):c.382-1G>T
NM_001164277.2(SLC37A4):c.382-20T>G
NM_001164277.2(SLC37A4):c.382-2A>G
NM_001164277.2(SLC37A4):c.382-5C>T
NM_001164277.2(SLC37A4):c.382-7C>T rs2134638535
NM_001164277.2(SLC37A4):c.382-8C>T rs2134638543
NM_001164277.2(SLC37A4):c.382-9G>C rs985534169
NM_001164277.2(SLC37A4):c.38T>A (p.Ile13Asn)
NM_001164277.2(SLC37A4):c.390G>C (p.Glu130Asp) rs752687782
NM_001164277.2(SLC37A4):c.398dup (p.Phe134fs) rs2134638421
NM_001164277.2(SLC37A4):c.399G>T (p.Gln133His) rs767772187
NM_001164277.2(SLC37A4):c.405C>T (p.Gly135=) rs377452076
NM_001164277.2(SLC37A4):c.410G>A (p.Trp137Ter)
NM_001164277.2(SLC37A4):c.412T>C (p.Trp138Arg)
NM_001164277.2(SLC37A4):c.413G>A (p.Trp138Ter)
NM_001164277.2(SLC37A4):c.417C>T (p.Ala139=) rs2134638267
NM_001164277.2(SLC37A4):c.420C>G (p.Ile140Met) rs2134638252
NM_001164277.2(SLC37A4):c.420C>T (p.Ile140=)
NM_001164277.2(SLC37A4):c.421C>T (p.Leu141=)
NM_001164277.2(SLC37A4):c.421del (p.Leu141fs)
NM_001164277.2(SLC37A4):c.423G>C (p.Leu141=) rs766732034
NM_001164277.2(SLC37A4):c.423G>T (p.Leu141=) rs766732034
NM_001164277.2(SLC37A4):c.429C>T (p.Thr143=) rs1250941400
NM_001164277.2(SLC37A4):c.447A>G (p.Gly149=) rs2134638161
NM_001164277.2(SLC37A4):c.45A>G (p.Ser15=) rs1555191880
NM_001164277.2(SLC37A4):c.463C>T (p.Leu155=) rs1395373487
NM_001164277.2(SLC37A4):c.468A>G (p.Ala156=) rs1395094300
NM_001164277.2(SLC37A4):c.473T>C (p.Ile158Thr)
NM_001164277.2(SLC37A4):c.483G>A (p.Gln161=) rs2134637952
NM_001164277.2(SLC37A4):c.492C>A (p.Ser164Arg) rs369399624
NM_001164277.2(SLC37A4):c.492C>T (p.Ser164=) rs369399624
NM_001164277.2(SLC37A4):c.494G>A (p.Trp165Ter) rs1943618079
NM_001164277.2(SLC37A4):c.495G>A (p.Trp165Ter) rs1233639372
NM_001164277.2(SLC37A4):c.497GCA[3] (p.Ser167dup) rs2134637839
NM_001164277.2(SLC37A4):c.497_509del (p.Arg166fs)
NM_001164277.2(SLC37A4):c.504G>T (p.Thr168=)
NM_001164277.2(SLC37A4):c.507G>C (p.Leu169=)
NM_001164277.2(SLC37A4):c.519G>T (p.Gly173=)
NM_001164277.2(SLC37A4):c.520G>A (p.Ala174Thr) rs1432294427
NM_001164277.2(SLC37A4):c.522A>C (p.Ala174=) rs369409989
NM_001164277.2(SLC37A4):c.523C>G (p.Leu175Val)
NM_001164277.2(SLC37A4):c.525G>C (p.Leu175=) rs1010838306
NM_001164277.2(SLC37A4):c.527= (p.Cys176=) rs56966114
NM_001164277.2(SLC37A4):c.528_530del (p.Cys176_Val177delinsTrp) rs2134637643
NM_001164277.2(SLC37A4):c.531G>T (p.Val177=)
NM_001164277.2(SLC37A4):c.537C>T (p.Val179=) rs1780828602
NM_001164277.2(SLC37A4):c.53T>C (p.Phe18Ser)
NM_001164277.2(SLC37A4):c.543C>T (p.Phe181=) rs760217061
NM_001164277.2(SLC37A4):c.547T>C (p.Cys183Arg) rs193302893
NM_001164277.2(SLC37A4):c.553C>T (p.Leu185=)
NM_001164277.2(SLC37A4):c.556C>T (p.Leu186Phe) rs538938823
NM_001164277.2(SLC37A4):c.557T>A (p.Leu186His) rs1943614259
NM_001164277.2(SLC37A4):c.560T>C (p.Ile187Thr) rs1452797070
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu) rs193302888
NM_001164277.2(SLC37A4):c.576T>C (p.Ala192=) rs1555191231
NM_001164277.2(SLC37A4):c.577G>A (p.Asp193Asn)
NM_001164277.2(SLC37A4):c.581T>C (p.Val194Ala)
NM_001164277.2(SLC37A4):c.588C>T (p.Leu196=) rs1555191222
NM_001164277.2(SLC37A4):c.589C>T (p.Arg197Cys)
NM_001164277.2(SLC37A4):c.58G>T (p.Gly20Cys) rs2134644210
NM_001164277.2(SLC37A4):c.593A>G (p.Asn198Ser)
NM_001164277.2(SLC37A4):c.593del (p.Asn198fs)
NM_001164277.2(SLC37A4):c.595C>T (p.Leu199=) rs1565689217
NM_001164277.2(SLC37A4):c.595del (p.Leu199fs) rs1474282972
NM_001164277.2(SLC37A4):c.596T>G (p.Leu199Arg) rs2134637316
NM_001164277.2(SLC37A4):c.597G>A (p.Leu199=) rs750870724
NM_001164277.2(SLC37A4):c.598G>T (p.Asp200Tyr)
NM_001164277.2(SLC37A4):c.59G>C (p.Gly20Ala) rs193302881
NM_001164277.2(SLC37A4):c.59dup (p.Tyr21fs) rs1943676862
NM_001164277.2(SLC37A4):c.600C>G (p.Asp200Glu) rs1565689207
NM_001164277.2(SLC37A4):c.603C>T (p.Pro201=) rs368398459
NM_001164277.2(SLC37A4):c.606G>A (p.Met202Ile) rs764654621
NM_001164277.2(SLC37A4):c.607C>A (p.Pro203Thr) rs534894133
NM_001164277.2(SLC37A4):c.60C>A (p.Gly20=)
NM_001164277.2(SLC37A4):c.60C>T (p.Gly20=)
NM_001164277.2(SLC37A4):c.611C>T (p.Ser204Phe) rs567419206
NM_001164277.2(SLC37A4):c.613G>A (p.Glu205Lys)
NM_001164277.2(SLC37A4):c.615G>C (p.Glu205Asp)
NM_001164277.2(SLC37A4):c.61T>C (p.Tyr21His) rs1943676569
NM_001164277.2(SLC37A4):c.623A>G (p.Lys208Arg)
NM_001164277.2(SLC37A4):c.626+10C>A rs757924969
NM_001164277.2(SLC37A4):c.626+10C>G
NM_001164277.2(SLC37A4):c.626+10C>T rs757924969
NM_001164277.2(SLC37A4):c.626+10del
NM_001164277.2(SLC37A4):c.626+11A>T rs747150144
NM_001164277.2(SLC37A4):c.626+15A>G
NM_001164277.2(SLC37A4):c.626+16G>A rs74673344
NM_001164277.2(SLC37A4):c.626+16G>C rs74673344
NM_001164277.2(SLC37A4):c.626+5G>A rs1943610138
NM_001164277.2(SLC37A4):c.626+6C>T rs762685017
NM_001164277.2(SLC37A4):c.626+7C>T rs1555191207
NM_001164277.2(SLC37A4):c.626+8C>T
NM_001164277.2(SLC37A4):c.627-11C>T
NM_001164277.2(SLC37A4):c.627-16C>T
NM_001164277.2(SLC37A4):c.627-20C>T rs1191557410
NM_001164277.2(SLC37A4):c.627-6C>T rs782514947
NM_001164277.2(SLC37A4):c.627-7C>T
NM_001164277.2(SLC37A4):c.627-8A>G
NM_001164277.2(SLC37A4):c.627-9C>T
NM_001164277.2(SLC37A4):c.627C>T (p.Gly209=)
NM_001164277.2(SLC37A4):c.633G>A (p.Leu211=) rs2134635379
NM_001164277.2(SLC37A4):c.634_636del (p.Lys212del) rs782141145
NM_001164277.2(SLC37A4):c.63C>T (p.Tyr21=) rs1257759060
NM_001164277.2(SLC37A4):c.645C>T (p.Ser215=)
NM_001164277.2(SLC37A4):c.648C>T (p.Thr216=)
NM_001164277.2(SLC37A4):c.653A>G (p.Gln218Arg) rs782005026
NM_001164277.2(SLC37A4):c.664C>T (p.Leu222=)
NM_001164277.2(SLC37A4):c.666G>C (p.Leu222=) rs1943590147
NM_001164277.2(SLC37A4):c.669C>T (p.Ser223=)
NM_001164277.2(SLC37A4):c.66C>G (p.Ser22Arg)
NM_001164277.2(SLC37A4):c.66C>T (p.Ser22=) rs2134644140
NM_001164277.2(SLC37A4):c.675C>A (p.Tyr225Ter) rs996440530
NM_001164277.2(SLC37A4):c.680G>A (p.Trp227Ter)
NM_001164277.2(SLC37A4):c.686del (p.Leu229fs)
NM_001164277.2(SLC37A4):c.690C>G (p.Ser230=) rs782333619
NM_001164277.2(SLC37A4):c.690C>T (p.Ser230=) rs782333619
NM_001164277.2(SLC37A4):c.692C>T (p.Thr231Ile)
NM_001164277.2(SLC37A4):c.702T>G (p.Leu234=)
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del) rs121908977
NM_001164277.2(SLC37A4):c.711T>G (p.Phe237Leu) rs1295327218
NM_001164277.2(SLC37A4):c.713del (p.Gly238fs)
NM_001164277.2(SLC37A4):c.717A>C (p.Val239=)
NM_001164277.2(SLC37A4):c.71_74dup (p.Tyr25Ter) rs2134644045
NM_001164277.2(SLC37A4):c.723C>G (p.Thr241=) rs782547500
NM_001164277.2(SLC37A4):c.723C>T (p.Thr241=) rs782547500
NM_001164277.2(SLC37A4):c.724T>G (p.Cys242Gly)
NM_001164277.2(SLC37A4):c.728G>A (p.Cys243Tyr) rs1555191076
NM_001164277.2(SLC37A4):c.740G>A (p.Gly247Asp) rs1345697523
NM_001164277.2(SLC37A4):c.743A>G (p.Gln248Arg)
NM_001164277.2(SLC37A4):c.744G>T (p.Gln248His)
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs) rs1447366650
NM_001164277.2(SLC37A4):c.751C>G (p.Leu251Val) rs2134634814
NM_001164277.2(SLC37A4):c.751dup (p.Leu251fs)
NM_001164277.2(SLC37A4):c.762G>A (p.Glu254=) rs782774153
NM_001164277.2(SLC37A4):c.770A>G (p.Gln257Arg)
NM_001164277.2(SLC37A4):c.774A>C (p.Ser258=)
NM_001164277.2(SLC37A4):c.778del (p.Leu260_Val261insTer)
NM_001164277.2(SLC37A4):c.780_781insTCTTACCTT (p.Leu260_Val261insSerTyrLeu) rs1565688245
NM_001164277.2(SLC37A4):c.785+15G>A
NM_001164277.2(SLC37A4):c.785+19C>G
NM_001164277.2(SLC37A4):c.785+2T>G rs1592111559
NM_001164277.2(SLC37A4):c.785+8G>A rs782075266
NM_001164277.2(SLC37A4):c.785G>C (p.Gly262Ala) rs782692832
NM_001164277.2(SLC37A4):c.786-17A>G
NM_001164277.2(SLC37A4):c.786-18_786-16del rs1555191005
NM_001164277.2(SLC37A4):c.786-1G>A rs1943578039
NM_001164277.2(SLC37A4):c.786-22_786-13del
NM_001164277.2(SLC37A4):c.786-2A>C
NM_001164277.2(SLC37A4):c.786-2A>G rs2134633880
NM_001164277.2(SLC37A4):c.786-3_787del rs2134633858
NM_001164277.2(SLC37A4):c.786-6C>T rs2134633894
NM_001164277.2(SLC37A4):c.786T>A (p.Gly262=) rs2134633851
NM_001164277.2(SLC37A4):c.78C>T (p.Phe26=) rs1943675742
NM_001164277.2(SLC37A4):c.792C>T (p.Ser264=)
NM_001164277.2(SLC37A4):c.793T>C (p.Tyr265His)
NM_001164277.2(SLC37A4):c.795C>T (p.Tyr265=) rs2134633831
NM_001164277.2(SLC37A4):c.796A>G (p.Met266Val)
NM_001164277.2(SLC37A4):c.796_797del (p.Met266fs) rs1592111172
NM_001164277.2(SLC37A4):c.804C>T (p.Ala268=) rs1468281804
NM_001164277.2(SLC37A4):c.824T>G (p.Val275Gly) rs2134633732
NM_001164277.2(SLC37A4):c.827G>C (p.Gly276Ala) rs1350014866
NM_001164277.2(SLC37A4):c.834C>A (p.Ile278=)
NM_001164277.2(SLC37A4):c.83G>T (p.Arg28Leu)
NM_001164277.2(SLC37A4):c.847C>T (p.Leu283=)
NM_001164277.2(SLC37A4):c.852A>G (p.Ser284=)
NM_001164277.2(SLC37A4):c.85A>G (p.Lys29Glu) rs1943675245
NM_001164277.2(SLC37A4):c.861C>T (p.Ala287=) rs782246067
NM_001164277.2(SLC37A4):c.871+15G>A
NM_001164277.2(SLC37A4):c.871+17G>A
NM_001164277.2(SLC37A4):c.871+19C>G
NM_001164277.2(SLC37A4):c.871+19C>T rs782487764
NM_001164277.2(SLC37A4):c.871+1G>A
NM_001164277.2(SLC37A4):c.871+7G>C rs782177602
NM_001164277.2(SLC37A4):c.871+8G>C rs2134633461
NM_001164277.2(SLC37A4):c.872-10G>A rs1555190776
NM_001164277.2(SLC37A4):c.872-15_872-9dup rs782321213
NM_001164277.2(SLC37A4):c.872-17C>T rs1286218803
NM_001164277.2(SLC37A4):c.872-1G>A
NM_001164277.2(SLC37A4):c.872-4A>C
NM_001164277.2(SLC37A4):c.872-4A>G
NM_001164277.2(SLC37A4):c.872-8A>G
NM_001164277.2(SLC37A4):c.872-8_881del
NM_001164277.2(SLC37A4):c.872C>G (p.Ala291Gly) rs200147602
NM_001164277.2(SLC37A4):c.872C>T (p.Ala291Val) rs200147602
NM_001164277.2(SLC37A4):c.873G>A (p.Ala291=) rs974857648
NM_001164277.2(SLC37A4):c.879G>A (p.Leu293=)
NM_001164277.2(SLC37A4):c.87G>A (p.Lys29=) rs1171604521
NM_001164277.2(SLC37A4):c.87G>T (p.Lys29Asn)
NM_001164277.2(SLC37A4):c.886_888delinsCAA (p.Tyr296Gln) rs1943560243
NM_001164277.2(SLC37A4):c.891G>A (p.Gly297=) rs1388277495
NM_001164277.2(SLC37A4):c.891G>T (p.Gly297=) rs1388277495
NM_001164277.2(SLC37A4):c.894C>A (p.Asn298Lys)
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His) rs193302903
NM_001164277.2(SLC37A4):c.89C>T (p.Thr30Ile)
NM_001164277.2(SLC37A4):c.900C>T (p.Arg300=) rs2134631794
NM_001164277.2(SLC37A4):c.901C>G (p.His301Asp) rs539911116
NM_001164277.2(SLC37A4):c.901C>T (p.His301Tyr)
NM_001164277.2(SLC37A4):c.906C>A (p.Gly302=) rs374287329
NM_001164277.2(SLC37A4):c.909G>A (p.Leu303=) rs1555190747
NM_001164277.2(SLC37A4):c.919A>G (p.Met307Val)
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup) rs786204477
NM_001164277.2(SLC37A4):c.925del (p.Ala309fs) rs2134631619
NM_001164277.2(SLC37A4):c.927del (p.Gly310fs) rs1943557200
NM_001164277.2(SLC37A4):c.928G>A (p.Gly310Ser)
NM_001164277.2(SLC37A4):c.929del (p.Gly310fs) rs1943556915
NM_001164277.2(SLC37A4):c.92_94del (p.Phe31del) rs1432360280
NM_001164277.2(SLC37A4):c.935_936del (p.Thr312fs)
NM_001164277.2(SLC37A4):c.939G>A (p.Val313=) rs782577230
NM_001164277.2(SLC37A4):c.939G>C (p.Val313=) rs782577230
NM_001164277.2(SLC37A4):c.942C>T (p.Ser314=) rs1555190722
NM_001164277.2(SLC37A4):c.944T>G (p.Met315Arg)
NM_001164277.2(SLC37A4):c.948C>T (p.Tyr316=)
NM_001164277.2(SLC37A4):c.949C>G (p.Leu317Val)
NM_001164277.2(SLC37A4):c.956G>C (p.Arg319Pro) rs782703235
NM_001164277.2(SLC37A4):c.956G>T (p.Arg319Leu)
NM_001164277.2(SLC37A4):c.958del (p.Arg319_Val320insTer) rs1943554955
NM_001164277.2(SLC37A4):c.961A>T (p.Thr321Ser)
NM_001164277.2(SLC37A4):c.962_963del (p.Thr321fs)
NM_001164277.2(SLC37A4):c.976dup (p.Ser326fs) rs2134631242
NM_001164277.2(SLC37A4):c.977C>A (p.Ser326Tyr) rs1943553852
NM_001164277.2(SLC37A4):c.979C>T (p.Pro327Ser)
NM_001164277.2(SLC37A4):c.981del (p.Lys328fs) rs1001301633
NM_001164277.2(SLC37A4):c.984G>A (p.Lys328=)
NM_001164277.2(SLC37A4):c.985+10A>G rs2134631117
NM_001164277.2(SLC37A4):c.985+15C>G
NM_001164277.2(SLC37A4):c.985+18G>A
NM_001164277.2(SLC37A4):c.985+1G>A rs1943553565
NM_001164277.2(SLC37A4):c.985+20C>T rs1453624071
NM_001164277.2(SLC37A4):c.985+9G>C
NM_001164277.2(SLC37A4):c.986-13C>A rs2134628756
NM_001164277.2(SLC37A4):c.986-14T>G rs863224211
NM_001164277.2(SLC37A4):c.986-1G>A
NM_001164277.2(SLC37A4):c.986-4G>A
NM_001164277.2(SLC37A4):c.989G>A (p.Trp330Ter)
NM_001164277.2(SLC37A4):c.999A>G (p.Val333=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.