Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189563705T>ACA430367262SLC40A1c.1281A>T (p.Thr427=)
c.1161A>T (p.Thr387=)
2g.189563705T>CCA430367263SLC40A1c.1281A>G (p.Thr427=)
c.1161A>G (p.Thr387=)
2g.189563705T>GCA430367264SLC40A1c.1281A>C (p.Thr427=)
c.1161A>C (p.Thr387=)
2g.189563706G>ACA349987362SLC40A1c.1280C>T (p.Thr427Ile)
c.1160C>T (p.Thr387Ile)
2g.189563706G>CCA349987363SLC40A1c.1280C>G (p.Thr427Arg)
c.1160C>G (p.Thr387Arg)
2g.189563706G>TCA349987364SLC40A1c.1280C>A (p.Thr427Lys)
c.1160C>A (p.Thr387Lys)
 gnomAD v4
2g.189563707T>ACA349987365SLC40A1c.1279A>T (p.Thr427Ser)
c.1159A>T (p.Thr387Ser)
2g.189563707T>CCA349987366SLC40A1c.1279A>G (p.Thr427Ala)
c.1159A>G (p.Thr387Ala)
2g.189563707T>GCA349987367SLC40A1c.1279A>C (p.Thr427Pro)
c.1159A>C (p.Thr387Pro)
2g.189563708A>CCA349987368SLC40A1c.1278T>G (p.Ile426Met)
c.1158T>G (p.Ile386Met)
2g.189563708A>GCA430367265SLC40A1c.1278T>C (p.Ile426=)
c.1158T>C (p.Ile386=)
2g.189563708A>TCA430367266SLC40A1c.1278T>A (p.Ile426=)
c.1158T>A (p.Ile386=)
2g.189563709A>CCA349987369SLC40A1c.1277T>G (p.Ile426Ser)
c.1157T>G (p.Ile386Ser)
2g.189563709A>GCA349987370SLC40A1c.1277T>C (p.Ile426Thr)
c.1157T>C (p.Ile386Thr)
2g.189563709A>TCA349987371SLC40A1c.1277T>A (p.Ile426Asn)
c.1157T>A (p.Ile386Asn)
2g.189563709_189563710delinsATCA1315653929SLC40A1c.1276_1277delinsAT (p.Ile426=)
c.1156_1157delinsAT (p.Ile386=)
2g.189563710T>ACA349987372SLC40A1c.1276A>T (p.Ile426Phe)
c.1156A>T (p.Ile386Phe)
2g.189563710T>CCA349987373SLC40A1c.1276A>G (p.Ile426Val)
c.1156A>G (p.Ile386Val)
2g.189563710T>GCA349987374SLC40A1c.1276A>C (p.Ile426Leu)
c.1156A>C (p.Ile386Leu)
2g.189563712delCA1040449922SLC40A1c.1276del (p.Ile426LeufsTer27)
c.1156del (p.Ile386LeufsTer27)
 dbSNP gnomAD v3 gnomAD v4
2g.189563711T>ACA349987376SLC40A1c.1275A>T (p.Glu425Asp)
c.1155A>T (p.Glu385Asp)
2g.189563711T>CCA430367267SLC40A1c.1275A>G (p.Glu425=)
c.1155A>G (p.Glu385=)
2g.189563711T>GCA349987375SLC40A1c.1275A>C (p.Glu425Asp)
c.1155A>C (p.Glu385Asp)
2g.189563712T>ACA349987377SLC40A1c.1274A>T (p.Glu425Val)
c.1154A>T (p.Glu385Val)
2g.189563712T>CCA349987378SLC40A1c.1274A>G (p.Glu425Gly)
c.1154A>G (p.Glu385Gly)
2g.189563712T>GCA349987379SLC40A1c.1274A>C (p.Glu425Ala)
c.1154A>C (p.Glu385Ala)
2g.189563712T=CA1315653931SLC40A1c.1274A= (p.Glu425=)
c.1154A= (p.Glu385=)
2g.189563713C>ACA349987380SLC40A1c.1273G>T (p.Glu425Ter)
c.1153G>T (p.Glu385Ter)
2g.189563713C=CA1315653934SLC40A1c.1273G= (p.Glu425=)
c.1153G= (p.Glu385=)
2g.189563713C>GCA349987381SLC40A1c.1273G>C (p.Glu425Gln)
c.1153G>C (p.Glu385Gln)
2g.189563713C>TCA2024092SLC40A1c.1273G>A (p.Glu425Lys)
c.1153G>A (p.Glu385Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563713dupCA62902885SLC40A1c.1273dup (p.Glu425GlyfsTer5)
c.1153dup (p.Glu385GlyfsTer5)
 dbSNP
2g.189563714A>CCA430367270SLC40A1c.1272T>G (p.Pro424=)
c.1152T>G (p.Pro384=)
2g.189563714A>GCA430367268SLC40A1c.1272T>C (p.Pro424=)
c.1152T>C (p.Pro384=)
2g.189563714A>TCA430367269SLC40A1c.1272T>A (p.Pro424=)
c.1152T>A (p.Pro384=)
2g.189563715G>ACA349987382SLC40A1c.1271C>T (p.Pro424Leu)
c.1151C>T (p.Pro384Leu)
2g.189563715G>CCA349987383SLC40A1c.1271C>G (p.Pro424Arg)
c.1151C>G (p.Pro384Arg)
2g.189563715G>TCA349987384SLC40A1c.1271C>A (p.Pro424His)
c.1151C>A (p.Pro384His)
2g.189563716G>ACA2024093SLC40A1c.1270C>T (p.Pro424Ser)
c.1150C>T (p.Pro384Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563716G>CCA349987385SLC40A1c.1270C>G (p.Pro424Ala)
c.1150C>G (p.Pro384Ala)
 dbSNP
2g.189563716G=CA1315653939SLC40A1c.1270C= (p.Pro424=)
c.1150C= (p.Pro384=)
2g.189563716G>TCA349987386SLC40A1c.1270C>A (p.Pro424Thr)
c.1150C>A (p.Pro384Thr)
 COSMIC
2g.189563717T>ACA430367271SLC40A1c.1269A>T (p.Ile423=)
c.1149A>T (p.Ile383=)
2g.189563717T>CCA349987387SLC40A1c.1269A>G (p.Ile423Met)
c.1149A>G (p.Ile383Met)
2g.189563717T>GCA430367272SLC40A1c.1269A>C (p.Ile423=)
c.1149A>C (p.Ile383=)
2g.189563717dupCA2024094SLC40A1c.1269dup (p.Pro424ThrfsTer2)
c.1149dup (p.Pro384ThrfsTer2)
 dbSNP ExAC gnomAD v2
2g.189563718A>CCA349987390SLC40A1c.1268T>G (p.Ile423Arg)
c.1148T>G (p.Ile383Arg)
2g.189563718A>GCA349987389SLC40A1c.1268T>C (p.Ile423Thr)
c.1148T>C (p.Ile383Thr)
 gnomAD v4
2g.189563718A>TCA349987388SLC40A1c.1268T>A (p.Ile423Lys)
c.1148T>A (p.Ile383Lys)
2g.189563719T>ACA349987391SLC40A1c.1267A>T (p.Ile423Leu)
c.1147A>T (p.Ile383Leu)
2g.189563719T>CCA349987392SLC40A1c.1267A>G (p.Ile423Val)
c.1147A>G (p.Ile383Val)
2g.189563719T>GCA349987393SLC40A1c.1267A>C (p.Ile423Leu)
c.1147A>C (p.Ile383Leu)
2g.189563720C>ACA349987394SLC40A1c.1266G>T (p.Lys422Asn)
c.1146G>T (p.Lys382Asn)
2g.189563720C=CA1315653944SLC40A1c.1266G= (p.Lys422=)
c.1146G= (p.Lys382=)
2g.189563720C>GCA349987395SLC40A1c.1266G>C (p.Lys422Asn)
c.1146G>C (p.Lys382Asn)
2g.189563720C>TCA2024095SLC40A1c.1266G>A (p.Lys422=)
c.1146G>A (p.Lys382=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563721T>ACA349987398SLC40A1c.1265A>T (p.Lys422Met)
c.1145A>T (p.Lys382Met)
2g.189563721T>CCA349987397SLC40A1c.1265A>G (p.Lys422Arg)
c.1145A>G (p.Lys382Arg)
2g.189563721T>GCA349987396SLC40A1c.1265A>C (p.Lys422Thr)
c.1145A>C (p.Lys382Thr)
2g.189563722T>ACA349987399SLC40A1c.1264A>T (p.Lys422Ter)
c.1144A>T (p.Lys382Ter)
2g.189563722T>CCA349987400SLC40A1c.1264A>G (p.Lys422Glu)
c.1144A>G (p.Lys382Glu)
2g.189563722T>GCA349987401SLC40A1c.1264A>C (p.Lys422Gln)
c.1144A>C (p.Lys382Gln)
2g.189563723G>ACA430367274SLC40A1c.1263C>T (p.Thr421=)
c.1143C>T (p.Thr381=)
2g.189563723G>CCA430367275SLC40A1c.1263C>G (p.Thr421=)
c.1143C>G (p.Thr381=)
 gnomAD v4
2g.189563723G>TCA430367273SLC40A1c.1263C>A (p.Thr421=)
c.1143C>A (p.Thr381=)
2g.189563750_189563751insCAGGATTTGTGGCACCTTCTGACTGTCAAACTGTTCTTGTCAATCTCACGGTAGGTGTAATTGACTCTCCTTGAATGCA2499215545SLC40A1c.1263_1264insGTGAGATTGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGCATTCAAGGAGAGTCAATTACACCTACC (p.Lys422ValfsTer8)
c.1143_1144insGTGAGATTGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGCATTCAAGGAGAGTCAATTACACCTACC (p.Lys382ValfsTer8)
 ClinVar dbSNP
2g.189563724G>ACA349987402SLC40A1c.1262C>T (p.Thr421Ile)
c.1142C>T (p.Thr381Ile)
 dbSNP
2g.189563724G>CCA349987403SLC40A1c.1262C>G (p.Thr421Ser)
c.1142C>G (p.Thr381Ser)
2g.189563724G=CA1315653945SLC40A1c.1262C= (p.Thr421=)
c.1142C= (p.Thr381=)
2g.189563724G>TCA349987404SLC40A1c.1262C>A (p.Thr421Asn)
c.1142C>A (p.Thr381Asn)
2g.189563725T>ACA349987407SLC40A1c.1261A>T (p.Thr421Ser)
c.1141A>T (p.Thr381Ser)
2g.189563725T>CCA349987405SLC40A1c.1261A>G (p.Thr421Ala)
c.1141A>G (p.Thr381Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189563725T>GCA349987406SLC40A1c.1261A>C (p.Thr421Pro)
c.1141A>C (p.Thr381Pro)
2g.189563725T=CA1315653948SLC40A1c.1261A= (p.Thr421=)
c.1141A= (p.Thr381=)
2g.189563726A>CCA430367278SLC40A1c.1260T>G (p.Pro420=)
c.1140T>G (p.Pro380=)
2g.189563726A>GCA430367276SLC40A1c.1260T>C (p.Pro420=)
c.1140T>C (p.Pro380=)
 gnomAD v4
2g.189563726A>TCA430367277SLC40A1c.1260T>A (p.Pro420=)
c.1140T>A (p.Pro380=)
2g.189563727G>ACA349987408SLC40A1c.1259C>T (p.Pro420Leu)
c.1139C>T (p.Pro380Leu)
 gnomAD v4
2g.189563727G>CCA349987409SLC40A1c.1259C>G (p.Pro420Arg)
c.1139C>G (p.Pro380Arg)
2g.189563727G>TCA349987410SLC40A1c.1259C>A (p.Pro420His)
c.1139C>A (p.Pro380His)
2g.189563728G>ACA349987411SLC40A1c.1258C>T (p.Pro420Ser)
c.1138C>T (p.Pro380Ser)
 dbSNP gnomAD v4
2g.189563728G>CCA349987412SLC40A1c.1258C>G (p.Pro420Ala)
c.1138C>G (p.Pro380Ala)
 dbSNP
2g.189563728G=CA1315653951SLC40A1c.1258C= (p.Pro420=)
c.1138C= (p.Pro380=)
2g.189563728G>TCA62902886SLC40A1c.1258C>A (p.Pro420Thr)
c.1138C>A (p.Pro380Thr)
 dbSNP gnomAD v4
2g.189563729T>ACA430367279SLC40A1c.1257A>T (p.Thr419=)
c.1137A>T (p.Thr379=)
2g.189563729T>CCA430367281SLC40A1c.1257A>G (p.Thr419=)
c.1137A>G (p.Thr379=)
 dbSNP gnomAD v4
2g.189563729T>GCA430367280SLC40A1c.1257A>C (p.Thr419=)
c.1137A>C (p.Thr379=)
2g.189563729T=CA1315653954SLC40A1c.1257A= (p.Thr419=)
c.1137A= (p.Thr379=)
2g.189563730G>ACA2024096SLC40A1c.1256C>T (p.Thr419Ile)
c.1136C>T (p.Thr379Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563730G>CCA349987413SLC40A1c.1256C>G (p.Thr419Arg)
c.1136C>G (p.Thr379Arg)
2g.189563730G=CA1315653956SLC40A1c.1256C= (p.Thr419=)
c.1136C= (p.Thr379=)
2g.189563730G>TCA349987414SLC40A1c.1256C>A (p.Thr419Lys)
c.1136C>A (p.Thr379Lys)
2g.189563731T>ACA349987415SLC40A1c.1255A>T (p.Thr419Ser)
c.1135A>T (p.Thr379Ser)
2g.189563731T>CCA349987416SLC40A1c.1255A>G (p.Thr419Ala)
c.1135A>G (p.Thr379Ala)
2g.189563731T>GCA349987417SLC40A1c.1255A>C (p.Thr419Pro)
c.1135A>C (p.Thr379Pro)
2g.189563732A=CA1315653958SLC40A1c.1254T= (p.Ile418=)
c.1134T= (p.Ile378=)
2g.189563732A>CCA349987418SLC40A1c.1254T>G (p.Ile418Met)
c.1134T>G (p.Ile378Met)
2g.189563732A>GCA430367282SLC40A1c.1254T>C (p.Ile418=)
c.1134T>C (p.Ile378=)
 COSMIC
2g.189563732A>TCA430367283SLC40A1c.1254T>A (p.Ile418=)
c.1134T>A (p.Ile378=)
 dbSNP
2g.189563733A>CCA349987421SLC40A1c.1253T>G (p.Ile418Ser)
c.1133T>G (p.Ile378Ser)
2g.189563733A>GCA349987419SLC40A1c.1253T>C (p.Ile418Thr)
c.1133T>C (p.Ile378Thr)
2g.189563733A>TCA349987420SLC40A1c.1253T>A (p.Ile418Asn)
c.1133T>A (p.Ile378Asn)
2g.189563734T>ACA349987422SLC40A1c.1252A>T (p.Ile418Phe)
c.1132A>T (p.Ile378Phe)
2g.189563734T>CCA2024097SLC40A1c.1252A>G (p.Ile418Val)
c.1132A>G (p.Ile378Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563734T>GCA349987423SLC40A1c.1252A>C (p.Ile418Leu)
c.1132A>C (p.Ile378Leu)
2g.189563734T=CA1315653961SLC40A1c.1252A= (p.Ile418=)
c.1132A= (p.Ile378=)
2g.189563735T>ACA430367284SLC40A1c.1251A>T (p.Ser417=)
c.1131A>T (p.Ser377=)
2g.189563735T>CCA2024098SLC40A1c.1251A>G (p.Ser417=)
c.1131A>G (p.Ser377=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563735T>GCA430367285SLC40A1c.1251A>C (p.Ser417=)
c.1131A>C (p.Ser377=)
2g.189563735T=CA1315653964SLC40A1c.1251A= (p.Ser417=)
c.1131A= (p.Ser377=)
2g.189563736G>ACA349987424SLC40A1c.1250C>T (p.Ser417Leu)
c.1130C>T (p.Ser377Leu)
2g.189563736G>CCA349987425SLC40A1c.1250C>G (p.Ser417Ter)
c.1130C>G (p.Ser377Ter)
2g.189563736G>TCA349987426SLC40A1c.1250C>A (p.Ser417Ter)
c.1130C>A (p.Ser377Ter)
2g.189563750_189563751insCAGGATTTGTGGCACCTTCTGACTGTCAAACTGTTCTTGTCGACTCTCCTTGAATGCA2499215546SLC40A1c.1250_1251insGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGCATTCAAGGAGAGTC (p.Ile418ThrfsTer5)
c.1130_1131insGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGCATTCAAGGAGAGTC (p.Ile378ThrfsTer5)
 ClinVar dbSNP
2g.189563737A=CA1315653968SLC40A1c.1249T= (p.Ser417=)
c.1129T= (p.Ser377=)
2g.189563737A>CCA349987428SLC40A1c.1249T>G (p.Ser417Ala)
c.1129T>G (p.Ser377Ala)
2g.189563737A>GCA2024099SLC40A1c.1249T>C (p.Ser417Pro)
c.1129T>C (p.Ser377Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563737A>TCA349987427SLC40A1c.1249T>A (p.Ser417Thr)
c.1129T>A (p.Ser377Thr)
2g.189563738C>ACA349987429SLC40A1c.1248G>T (p.Glu416Asp)
c.1128G>T (p.Glu376Asp)
2g.189563738C=CA1315653971SLC40A1c.1248G= (p.Glu416=)
c.1128G= (p.Glu376=)
2g.189563738C>GCA349987430SLC40A1c.1248G>C (p.Glu416Asp)
c.1128G>C (p.Glu376Asp)
2g.189563738C>TCA430367286SLC40A1c.1248G>A (p.Glu416=)
c.1128G>A (p.Glu376=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189563739T>ACA349987431SLC40A1c.1247A>T (p.Glu416Val)
c.1127A>T (p.Glu376Val)
2g.189563739T>CCA349987432SLC40A1c.1247A>G (p.Glu416Gly)
c.1127A>G (p.Glu376Gly)
2g.189563739T>GCA349987433SLC40A1c.1247A>C (p.Glu416Ala)
c.1127A>C (p.Glu376Ala)
2g.189563740C>ACA349987434SLC40A1c.1246G>T (p.Glu416Ter)
c.1126G>T (p.Glu376Ter)
2g.189563740C>GCA349987436SLC40A1c.1246G>C (p.Glu416Gln)
c.1126G>C (p.Glu376Gln)
 gnomAD v4
2g.189563740C>TCA349987435SLC40A1c.1246G>A (p.Glu416Lys)
c.1126G>A (p.Glu376Lys)
 gnomAD v4
2g.189563741T>ACA430367287SLC40A1c.1245A>T (p.Gly415=)
c.1125A>T (p.Gly375=)
2g.189563741T>CCA430367288SLC40A1c.1245A>G (p.Gly415=)
c.1125A>G (p.Gly375=)
2g.189563741T>GCA430367289SLC40A1c.1245A>C (p.Gly415=)
c.1125A>C (p.Gly375=)
2g.189563742C>ACA349987437SLC40A1c.1244G>T (p.Gly415Val)
c.1124G>T (p.Gly375Val)
2g.189563742C>GCA349987438SLC40A1c.1244G>C (p.Gly415Ala)
c.1124G>C (p.Gly375Ala)
2g.189563742C>TCA349987439SLC40A1c.1244G>A (p.Gly415Glu)
c.1124G>A (p.Gly375Glu)
2g.189563743delCA2662328577SLC40A1c.1244del (p.Gly415GlufsTer?)
c.1124del (p.Gly375GlufsTer?)
 gnomAD v4
2g.189563743C>ACA349987440SLC40A1c.1243G>T (p.Gly415Ter)
c.1123G>T (p.Gly375Ter)
2g.189563743C>GCA349987441SLC40A1c.1243G>C (p.Gly415Arg)
c.1123G>C (p.Gly375Arg)
2g.189563743C>TCA349987442SLC40A1c.1243G>A (p.Gly415Arg)
c.1123G>A (p.Gly375Arg)
2g.189563744T>ACA349987443SLC40A1c.1242A>T (p.Gln414His)
c.1122A>T (p.Gln374His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189563744T>CCA430367290SLC40A1c.1242A>G (p.Gln414=)
c.1122A>G (p.Gln374=)
2g.189563744T>GCA349987444SLC40A1c.1242A>C (p.Gln414His)
c.1122A>C (p.Gln374His)
2g.189563744T=CA1315653973SLC40A1c.1242A= (p.Gln414=)
c.1122A= (p.Gln374=)
2g.189563745T>ACA349987445SLC40A1c.1241A>T (p.Gln414Leu)
c.1121A>T (p.Gln374Leu)
2g.189563745T>CCA349987446SLC40A1c.1241A>G (p.Gln414Arg)
c.1121A>G (p.Gln374Arg)
2g.189563745T>GCA349987447SLC40A1c.1241A>C (p.Gln414Pro)
c.1121A>C (p.Gln374Pro)
2g.189563750_189563813dupCA2607006871SLC40A1c.1178_1241dup (p.Gln414HisfsTer14)
c.1058_1121dup (p.Gln374HisfsTer14)
 gnomAD v3 gnomAD v4
2g.189563746G>ACA349987448SLC40A1c.1240C>T (p.Gln414Ter)
c.1120C>T (p.Gln374Ter)
 dbSNP gnomAD v3 gnomAD v4
2g.189563746G>CCA349987450SLC40A1c.1240C>G (p.Gln414Glu)
c.1120C>G (p.Gln374Glu)
2g.189563746G=CA1315653974SLC40A1c.1240C= (p.Gln414=)
c.1120C= (p.Gln374=)
2g.189563746G>TCA349987449SLC40A1c.1240C>A (p.Gln414Lys)
c.1120C>A (p.Gln374Lys)
2g.189563747A>CCA349987451SLC40A1c.1239T>G (p.Ile413Met)
c.1119T>G (p.Ile373Met)
2g.189563747A>GCA430367292SLC40A1c.1239T>C (p.Ile413=)
c.1119T>C (p.Ile373=)
2g.189563747A>TCA430367293SLC40A1c.1239T>A (p.Ile413=)
c.1119T>A (p.Ile373=)
2g.189563748A>CCA349987454SLC40A1c.1238T>G (p.Ile413Ser)
c.1118T>G (p.Ile373Ser)
2g.189563748A>GCA349987452SLC40A1c.1238T>C (p.Ile413Thr)
c.1118T>C (p.Ile373Thr)
2g.189563748A>TCA349987453SLC40A1c.1238T>A (p.Ile413Asn)
c.1118T>A (p.Ile373Asn)
2g.189563749T>ACA349987455SLC40A1c.1237A>T (p.Ile413Phe)
c.1117A>T (p.Ile373Phe)
2g.189563749T>CCA349987456SLC40A1c.1237A>G (p.Ile413Val)
c.1117A>G (p.Ile373Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189563749T>GCA349987457SLC40A1c.1237A>C (p.Ile413Leu)
c.1117A>C (p.Ile373Leu)
2g.189563749T=CA1315653976SLC40A1c.1237A= (p.Ile413=)
c.1117A= (p.Ile373=)
2g.189563750G>ACA430367294SLC40A1c.1236C>T (p.Phe412=)
c.1116C>T (p.Phe372=)
2g.189563750G>CCA349987458SLC40A1c.1236C>G (p.Phe412Leu)
c.1116C>G (p.Phe372Leu)
2g.189563750G=CA1315653979SLC40A1c.1236C= (p.Phe412=)
c.1116C= (p.Phe372=)
2g.189563750G>TCA349987459SLC40A1c.1236C>A (p.Phe412Leu)
c.1116C>A (p.Phe372Leu)
 dbSNP COSMIC
2g.189563751A>CCA349987460SLC40A1c.1235T>G (p.Phe412Cys)
c.1115T>G (p.Phe372Cys)
2g.189563751A>GCA349987461SLC40A1c.1235T>C (p.Phe412Ser)
c.1115T>C (p.Phe372Ser)
2g.189563751A>TCA349987462SLC40A1c.1235T>A (p.Phe412Tyr)
c.1115T>A (p.Phe372Tyr)
 COSMIC
2g.189563752A=CA1315653982SLC40A1c.1234T= (p.Phe412=)
c.1114T= (p.Phe372=)
2g.189563752A>CCA349987463SLC40A1c.1234T>G (p.Phe412Val)
c.1114T>G (p.Phe372Val)
2g.189563752A>GCA349987464SLC40A1c.1234T>C (p.Phe412Leu)
c.1114T>C (p.Phe372Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.189563752A>TCA349987465SLC40A1c.1234T>A (p.Phe412Ile)
c.1114T>A (p.Phe372Ile)
2g.189563753C>ACA349987466SLC40A1c.1233G>T (p.Arg411Ser)
c.1113G>T (p.Arg371Ser)
 gnomAD v4
2g.189563753C>GCA349987467SLC40A1c.1233G>C (p.Arg411Ser)
c.1113G>C (p.Arg371Ser)
2g.189563753C>TCA430367295SLC40A1c.1233G>A (p.Arg411=)
c.1113G>A (p.Arg371=)
2g.189563754C>ACA349987468SLC40A1c.1232G>T (p.Arg411Met)
c.1112G>T (p.Arg371Met)
2g.189563754C>GCA349987469SLC40A1c.1232G>C (p.Arg411Thr)
c.1112G>C (p.Arg371Thr)
2g.189563754C>TCA349987470SLC40A1c.1232G>A (p.Arg411Lys)
c.1112G>A (p.Arg371Lys)
2g.189563755T>ACA349987471SLC40A1c.1231A>T (p.Arg411Trp)
c.1111A>T (p.Arg371Trp)
2g.189563755T>CCA349987472SLC40A1c.1231A>G (p.Arg411Gly)
c.1111A>G (p.Arg371Gly)
2g.189563755T>GCA430367296SLC40A1c.1231A>C (p.Arg411=)
c.1111A>C (p.Arg371=)
2g.189563756T>ACA430367299SLC40A1c.1230A>T (p.Ser410=)
c.1110A>T (p.Ser370=)
2g.189563756T>CCA430367298SLC40A1c.1230A>G (p.Ser410=)
c.1110A>G (p.Ser370=)
2g.189563756T>GCA430367297SLC40A1c.1230A>C (p.Ser410=)
c.1110A>C (p.Ser370=)
 gnomAD v4
2g.189563757G>ACA349987473SLC40A1c.1229C>T (p.Ser410Leu)
c.1109C>T (p.Ser370Leu)
2g.189563757G>CCA349987474SLC40A1c.1229C>G (p.Ser410Ter)
c.1109C>G (p.Ser370Ter)
2g.189563757G=CA1315653983SLC40A1c.1229C= (p.Ser410=)
c.1109C= (p.Ser370=)
2g.189563757G>TCA349987475SLC40A1c.1229C>A (p.Ser410Ter)
c.1109C>A (p.Ser370Ter)
 dbSNP gnomAD v3 gnomAD v4
2g.189563758A>CCA349987476SLC40A1c.1228T>G (p.Ser410Ala)
c.1108T>G (p.Ser370Ala)
2g.189563758A>GCA349987477SLC40A1c.1228T>C (p.Ser410Pro)
c.1108T>C (p.Ser370Pro)
2g.189563758A>TCA349987478SLC40A1c.1228T>A (p.Ser410Thr)
c.1108T>A (p.Ser370Thr)
2g.189563759T>ACA430367302SLC40A1c.1227A>T (p.Arg409=)
c.1107A>T (p.Arg369=)
2g.189563759T>CCA430367301SLC40A1c.1227A>G (p.Arg409=)
c.1107A>G (p.Arg369=)
 gnomAD v4
2g.189563759T>GCA430367300SLC40A1c.1227A>C (p.Arg409=)
c.1107A>C (p.Arg369=)
 dbSNP
2g.189563759T=CA1315653986SLC40A1c.1227A= (p.Arg409=)
c.1107A= (p.Arg369=)
2g.189563760C>ACA349987479SLC40A1c.1226G>T (p.Arg409Leu)
c.1106G>T (p.Arg369Leu)
 gnomAD v4
2g.189563760C=CA1315653989SLC40A1c.1226G= (p.Arg409=)
c.1106G= (p.Arg369=)
2g.189563760C>GCA349987480SLC40A1c.1226G>C (p.Arg409Pro)
c.1106G>C (p.Arg369Pro)
2g.189563760C>TCA2024100SLC40A1c.1226G>A (p.Arg409Gln)
c.1106G>A (p.Arg369Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563761G>ACA349987481SLC40A1c.1225C>T (p.Arg409Ter)
c.1105C>T (p.Arg369Ter)
 dbSNP gnomAD v4
2g.189563761G>CCA2024101SLC40A1c.1225C>G (p.Arg409Gly)
c.1105C>G (p.Arg369Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563761G=CA1315653994SLC40A1c.1225C= (p.Arg409=)
c.1105C= (p.Arg369=)
2g.189563761G>TCA2024102SLC40A1c.1225C>A (p.Arg409=)
c.1105C>A (p.Arg369=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563762G>ACA430367303SLC40A1c.1224C>T (p.Ile408=)
c.1104C>T (p.Ile368=)
 gnomAD v4
2g.189563762G>CCA349987482SLC40A1c.1224C>G (p.Ile408Met)
c.1104C>G (p.Ile368Met)
 dbSNP
2g.189563762G=CA1315653997SLC40A1c.1224C= (p.Ile408=)
c.1104C= (p.Ile368=)
2g.189563762G>TCA430367304SLC40A1c.1224C>A (p.Ile408=)
c.1104C>A (p.Ile368=)
2g.189563763delCA2577188083SLC40A1c.1223del (p.Ile408ThrfsTer?)
c.1103del (p.Ile368ThrfsTer?)
2g.189563763A=CA1315653999SLC40A1c.1223T= (p.Ile408=)
c.1103T= (p.Ile368=)
2g.189563763A>CCA349987483SLC40A1c.1223T>G (p.Ile408Ser)
c.1103T>G (p.Ile368Ser)
2g.189563763A>GCA2024103SLC40A1c.1223T>C (p.Ile408Thr)
c.1103T>C (p.Ile368Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563763A>TCA349987484SLC40A1c.1223T>A (p.Ile408Asn)
c.1103T>A (p.Ile368Asn)
 gnomAD v4
2g.189563764T>ACA2024104SLC40A1c.1222A>T (p.Ile408Phe)
c.1102A>T (p.Ile368Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563764T>CCA349987485SLC40A1c.1222A>G (p.Ile408Val)
c.1102A>G (p.Ile368Val)
2g.189563764T>GCA349987486SLC40A1c.1222A>C (p.Ile408Leu)
c.1102A>C (p.Ile368Leu)
2g.189563764T=CA1315654001SLC40A1c.1222A= (p.Ile408=)
c.1102A= (p.Ile368=)
2g.189563765A>CCA349987487SLC40A1c.1221T>G (p.Asp407Glu)
c.1101T>G (p.Asp367Glu)
2g.189563765A>GCA430367305SLC40A1c.1221T>C (p.Asp407=)
c.1101T>C (p.Asp367=)
2g.189563765A>TCA349987488SLC40A1c.1221T>A (p.Asp407Glu)
c.1101T>A (p.Asp367Glu)
2g.189563766T>ACA349987490SLC40A1c.1220A>T (p.Asp407Val)
c.1100A>T (p.Asp367Val)
2g.189563766T>CCA349987491SLC40A1c.1220A>G (p.Asp407Gly)
c.1100A>G (p.Asp367Gly)
2g.189563766T>GCA349987489SLC40A1c.1220A>C (p.Asp407Ala)
c.1100A>C (p.Asp367Ala)
2g.189563767C>ACA349987492SLC40A1c.1219G>T (p.Asp407Tyr)
c.1099G>T (p.Asp367Tyr)
2g.189563767C>GCA349987493SLC40A1c.1219G>C (p.Asp407His)
c.1099G>C (p.Asp367His)
2g.189563767C>TCA349987494SLC40A1c.1219G>A (p.Asp407Asn)
c.1099G>A (p.Asp367Asn)
2g.189563768T>ACA349987495SLC40A1c.1218A>T (p.Glu406Asp)
c.1098A>T (p.Glu366Asp)
2g.189563768T>CCA430367306SLC40A1c.1218A>G (p.Glu406=)
c.1098A>G (p.Glu366=)
 gnomAD v4
2g.189563768T>GCA349987496SLC40A1c.1218A>C (p.Glu406Asp)
c.1098A>C (p.Glu366Asp)
2g.189563769T>ACA349987499SLC40A1c.1217A>T (p.Glu406Val)
c.1097A>T (p.Glu366Val)
2g.189563769T>CCA349987497SLC40A1c.1217A>G (p.Glu406Gly)
c.1097A>G (p.Glu366Gly)
2g.189563769T>GCA349987498SLC40A1c.1217A>C (p.Glu406Ala)
c.1097A>C (p.Glu366Ala)
2g.189563770C>ACA349987500SLC40A1c.1216G>T (p.Glu406Ter)
c.1096G>T (p.Glu366Ter)
2g.189563770C=CA1315654005SLC40A1c.1216G= (p.Glu406=)
c.1096G= (p.Glu366=)
2g.189563770C>GCA349987501SLC40A1c.1216G>C (p.Glu406Gln)
c.1096G>C (p.Glu366Gln)
 dbSNP gnomAD v3 gnomAD v4
2g.189563770C>TCA349987502SLC40A1c.1216G>A (p.Glu406Lys)
c.1096G>A (p.Glu366Lys)
2g.189563770_189563771delinsCACA1315654007SLC40A1c.1215_1216delinsTG (p.Phe405=)
c.1095_1096delinsTG (p.Phe365=)
2g.189563771A>CCA349987503SLC40A1c.1215T>G (p.Phe405Leu)
c.1095T>G (p.Phe365Leu)
2g.189563771A>GCA430367307SLC40A1c.1215T>C (p.Phe405=)
c.1095T>C (p.Phe365=)
2g.189563771A>TCA349987504SLC40A1c.1215T>A (p.Phe405Leu)
c.1095T>A (p.Phe365Leu)
2g.189563774delCA1040449931SLC40A1c.1215del (p.Phe405LeufsTer?)
c.1095del (p.Phe365LeufsTer?)
 dbSNP gnomAD v3 gnomAD v4
2g.189563772A=CA1315654012SLC40A1c.1214T= (p.Phe405=)
c.1094T= (p.Phe365=)
2g.189563772A>CCA349987505SLC40A1c.1214T>G (p.Phe405Cys)
c.1094T>G (p.Phe365Cys)
2g.189563772A>GCA62902887SLC40A1c.1214T>C (p.Phe405Ser)
c.1094T>C (p.Phe365Ser)
 dbSNP
2g.189563772A>TCA349987506SLC40A1c.1214T>A (p.Phe405Tyr)
c.1094T>A (p.Phe365Tyr)
2g.189563773A>CCA349987507SLC40A1c.1213T>G (p.Phe405Val)
c.1093T>G (p.Phe365Val)
2g.189563773A>GCA349987509SLC40A1c.1213T>C (p.Phe405Leu)
c.1093T>C (p.Phe365Leu)
 gnomAD v4
2g.189563773A>TCA349987508SLC40A1c.1213T>A (p.Phe405Ile)
c.1093T>A (p.Phe365Ile)
2g.189563774A>CCA430367308SLC40A1c.1212T>G (p.Pro404=)
c.1092T>G (p.Pro364=)
2g.189563774A>GCA430367309SLC40A1c.1212T>C (p.Pro404=)
c.1092T>C (p.Pro364=)
2g.189563774A>TCA430367310SLC40A1c.1212T>A (p.Pro404=)
c.1092T>A (p.Pro364=)
2g.189563775G>ACA349987510SLC40A1c.1211C>T (p.Pro404Leu)
c.1091C>T (p.Pro364Leu)
2g.189563775G>CCA349987512SLC40A1c.1211C>G (p.Pro404Arg)
c.1091C>G (p.Pro364Arg)
2g.189563775G>TCA349987511SLC40A1c.1211C>A (p.Pro404His)
c.1091C>A (p.Pro364His)
2g.189563776G>ACA349987513SLC40A1c.1210C>T (p.Pro404Ser)
c.1090C>T (p.Pro364Ser)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.189563776G>CCA349987514SLC40A1c.1210C>G (p.Pro404Ala)
c.1090C>G (p.Pro364Ala)
2g.189563776G=CA1315654015SLC40A1c.1210C= (p.Pro404=)
c.1090C= (p.Pro364=)
2g.189563776G>TCA2024105SLC40A1c.1210C>A (p.Pro404Thr)
c.1090C>A (p.Pro364Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563777A=CA1315654020SLC40A1c.1209T= (p.Ser403=)
c.1089T= (p.Ser363=)
2g.189563777A>CCA430367313SLC40A1c.1209T>G (p.Ser403=)
c.1089T>G (p.Ser363=)
2g.189563777A>GCA430367312SLC40A1c.1209T>C (p.Ser403=)
c.1089T>C (p.Ser363=)
 dbSNP gnomAD v2 gnomAD v4
2g.189563777A>TCA430367311SLC40A1c.1209T>A (p.Ser403=)
c.1089T>A (p.Ser363=)
2g.189563778G>ACA349987515SLC40A1c.1208C>T (p.Ser403Phe)
c.1088C>T (p.Ser363Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189563778G>CCA349987516SLC40A1c.1208C>G (p.Ser403Cys)
c.1088C>G (p.Ser363Cys)
2g.189563778G=CA1315654024SLC40A1c.1208C= (p.Ser403=)
c.1088C= (p.Ser363=)
2g.189563778G>TCA62902888SLC40A1c.1208C>A (p.Ser403Tyr)
c.1088C>A (p.Ser363Tyr)
 dbSNP
2g.189563779A>CCA349987517SLC40A1c.1207T>G (p.Ser403Ala)
c.1087T>G (p.Ser363Ala)
2g.189563779A>GCA349987518SLC40A1c.1207T>C (p.Ser403Pro)
c.1087T>C (p.Ser363Pro)
2g.189563779A>TCA349987519SLC40A1c.1207T>A (p.Ser403Thr)
c.1087T>A (p.Ser363Thr)
2g.189563780A>CCA430502702SLC40A1c.1206T>G (p.Val402=)
c.1086T>G (p.Val362=)
2g.189563780A>GCA430502703SLC40A1c.1206T>C (p.Val402=)
c.1086T>C (p.Val362=)
2g.189563780A>TCA430502705SLC40A1c.1206T>A (p.Val402=)
c.1086T>A (p.Val362=)
2g.189563781A>CCA349987520SLC40A1c.1205T>G (p.Val402Gly)
c.1085T>G (p.Val362Gly)
2g.189563781A>GCA349987521SLC40A1c.1205T>C (p.Val402Ala)
c.1085T>C (p.Val362Ala)
2g.189563781A>TCA349987522SLC40A1c.1205T>A (p.Val402Asp)
c.1085T>A (p.Val362Asp)
2g.189563782C>ACA62902889SLC40A1c.1204G>T (p.Val402Phe)
c.1084G>T (p.Val362Phe)
 dbSNP gnomAD v4
2g.189563782C=CA1315654028SLC40A1c.1204G= (p.Val402=)
c.1084G= (p.Val362=)
2g.189563782C>GCA349987523SLC40A1c.1204G>C (p.Val402Leu)
c.1084G>C (p.Val362Leu)
2g.189563782C>TCA2024106SLC40A1c.1204G>A (p.Val402Ile)
c.1084G>A (p.Val362Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189563783G>ACA2024107SLC40A1c.1203C>T (p.Ser401=)
c.1083C>T (p.Ser361=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189563783G>CCA430502714SLC40A1c.1203C>G (p.Ser401=)
c.1083C>G (p.Ser361=)
 dbSNP gnomAD v2 gnomAD v4
2g.189563783G=CA1315654034SLC40A1c.1203C= (p.Ser401=)
c.1083C= (p.Ser361=)
2g.189563783G>TCA430502713SLC40A1c.1203C>A (p.Ser401=)
c.1083C>A (p.Ser361=)
2g.189563784G>ACA349987524SLC40A1c.1202C>T (p.Ser401Phe)
c.1082C>T (p.Ser361Phe)
2g.189563784G>CCA349987525SLC40A1c.1202C>G (p.Ser401Cys)
c.1082C>G (p.Ser361Cys)
2g.189563784G>TCA349987526SLC40A1c.1202C>A (p.Ser401Tyr)
c.1082C>A (p.Ser361Tyr)
2g.189563785A>CCA349987527SLC40A1c.1201T>G (p.Ser401Ala)
c.1081T>G (p.Ser361Ala)
2g.189563785A>GCA349987528SLC40A1c.1201T>C (p.Ser401Pro)
c.1081T>C (p.Ser361Pro)
2g.189563785A>TCA349987529SLC40A1c.1201T>A (p.Ser401Thr)
c.1081T>A (p.Ser361Thr)
2g.189563786C>ACA349987530SLC40A1c.1200G>T (p.Leu400Phe)
c.1080G>T (p.Leu360Phe)
 gnomAD v4
2g.189563786C>GCA349987531SLC40A1c.1200G>C (p.Leu400Phe)
c.1080G>C (p.Leu360Phe)
 gnomAD v4
2g.189563786C>TCA430502727SLC40A1c.1200G>A (p.Leu400=)
c.1080G>A (p.Leu360=)
2g.189563787A>CCA349987532SLC40A1c.1199T>G (p.Leu400Trp)
c.1079T>G (p.Leu360Trp)
2g.189563787A>GCA349987533SLC40A1c.1199T>C (p.Leu400Ser)
c.1079T>C (p.Leu360Ser)
2g.189563787A>TCA349987534SLC40A1c.1199T>A (p.Leu400Ter)
c.1079T>A (p.Leu360Ter)
2g.189563788A>CCA349987536SLC40A1c.1198T>G (p.Leu400Val)
c.1078T>G (p.Leu360Val)
2g.189563788A>GCA430502733SLC40A1c.1198T>C (p.Leu400=)
c.1078T>C (p.Leu360=)
2g.189563788A>TCA349987535SLC40A1c.1198T>A (p.Leu400Met)
c.1078T>A (p.Leu360Met)
2g.189563789G>ACA430502734SLC40A1c.1197C>T (p.Asp399=)
c.1077C>T (p.Asp359=)
2g.189563789G>CCA349987537SLC40A1c.1197C>G (p.Asp399Glu)
c.1077C>G (p.Asp359Glu)
 gnomAD v4
2g.189563789G>TCA349987538SLC40A1c.1197C>A (p.Asp399Glu)
c.1077C>A (p.Asp359Glu)
2g.189563790T>ACA349987539SLC40A1c.1196A>T (p.Asp399Val)
c.1076A>T (p.Asp359Val)
2g.189563790T>CCA349987540SLC40A1c.1196A>G (p.Asp399Gly)
c.1076A>G (p.Asp359Gly)
2g.189563790T>GCA349987541SLC40A1c.1196A>C (p.Asp399Ala)
c.1076A>C (p.Asp359Ala)
2g.189563791C>ACA349987542SLC40A1c.1195G>T (p.Asp399Tyr)
c.1075G>T (p.Asp359Tyr)
2g.189563791C>GCA349987543SLC40A1c.1195G>C (p.Asp399His)
c.1075G>C (p.Asp359His)
2g.189563791C>TCA349987544SLC40A1c.1195G>A (p.Asp399Asn)
c.1075G>A (p.Asp359Asn)
2g.189563792C>ACA430502740SLC40A1c.1194G>T (p.Leu398=)
c.1074G>T (p.Leu358=)
2g.189563792C>GCA430502741SLC40A1c.1194G>C (p.Leu398=)
c.1074G>C (p.Leu358=)
2g.189563792C>TCA430502743SLC40A1c.1194G>A (p.Leu398=)
c.1074G>A (p.Leu358=)
2g.189563793A>CCA349987545SLC40A1c.1193T>G (p.Leu398Arg)
c.1073T>G (p.Leu358Arg)
2g.189563793A>GCA349987546SLC40A1c.1193T>C (p.Leu398Pro)
c.1073T>C (p.Leu358Pro)
2g.189563793A>TCA349987547SLC40A1c.1193T>A (p.Leu398Gln)
c.1073T>A (p.Leu358Gln)
2g.189563793_189563794delinsAGCA1315654038SLC40A1c.1192_1193delinsCT (p.Leu398=)
c.1072_1073delinsCT (p.Leu358=)
2g.189563794G>ACA430502750SLC40A1c.1192C>T (p.Leu398=)
c.1072C>T (p.Leu358=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189563794G>CCA349987548SLC40A1c.1192C>G (p.Leu398Val)
c.1072C>G (p.Leu358Val)
 gnomAD v4
2g.189563794G=CA1315654043SLC40A1c.1192C= (p.Leu398=)
c.1072C= (p.Leu358=)
2g.189563794G>TCA349987549SLC40A1c.1192C>A (p.Leu398Met)
c.1072C>A (p.Leu358Met)
2g.189563798delCA430502749SLC40A1c.1192del (p.Leu398TrpfsTer?)
c.1072del (p.Leu358TrpfsTer?)
 dbSNP COSMIC
2g.189563795G>ACA430502752SLC40A1c.1191C>T (p.Pro397=)
c.1071C>T (p.Pro357=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189563795G>CCA430502753SLC40A1c.1191C>G (p.Pro397=)
c.1071C>G (p.Pro357=)
 dbSNP gnomAD v3 gnomAD v4
2g.189563795G=CA1315654047SLC40A1c.1191C= (p.Pro397=)
c.1071C= (p.Pro357=)
2g.189563795G>TCA430502754SLC40A1c.1191C>A (p.Pro397=)
c.1071C>A (p.Pro357=)
2g.189563796G>ACA349987550SLC40A1c.1190C>T (p.Pro397Leu)
c.1070C>T (p.Pro357Leu)
 dbSNP gnomAD v4
2g.189563796G>CCA349987552SLC40A1c.1190C>G (p.Pro397Arg)
c.1070C>G (p.Pro357Arg)
 gnomAD v4
2g.189563796G=CA1315654049SLC40A1c.1190C= (p.Pro397=)
c.1070C= (p.Pro357=)
2g.189563796G>TCA349987551SLC40A1c.1190C>A (p.Pro397His)
c.1070C>A (p.Pro357His)
 COSMIC
2g.189563797G>ACA349987553SLC40A1c.1189C>T (p.Pro397Ser)
c.1069C>T (p.Pro357Ser)
 dbSNP
2g.189563797G>CCA349987554SLC40A1c.1189C>G (p.Pro397Ala)
c.1069C>G (p.Pro357Ala)
2g.189563797G=CA1315654053SLC40A1c.1189C= (p.Pro397=)
c.1069C= (p.Pro357=)
2g.189563797G>TCA349987555SLC40A1c.1189C>A (p.Pro397Thr)
c.1069C>A (p.Pro357Thr)
2g.189563798G>ACA430502759SLC40A1c.1188C>T (p.Ser396=)
c.1068C>T (p.Ser356=)
 gnomAD v4
2g.189563798G>CCA349987556SLC40A1c.1188C>G (p.Ser396Arg)
c.1068C>G (p.Ser356Arg)
2g.189563798G>TCA349987557SLC40A1c.1188C>A (p.Ser396Arg)
c.1068C>A (p.Ser356Arg)
2g.189563799C>ACA349987558SLC40A1c.1187G>T (p.Ser396Ile)
c.1067G>T (p.Ser356Ile)
2g.189563799C>GCA349987559SLC40A1c.1187G>C (p.Ser396Thr)
c.1067G>C (p.Ser356Thr)
2g.189563799C>TCA349987560SLC40A1c.1187G>A (p.Ser396Asn)
c.1067G>A (p.Ser356Asn)
 gnomAD v4
2g.189563800T>ACA349987561SLC40A1c.1186A>T (p.Ser396Cys)
c.1066A>T (p.Ser356Cys)
2g.189563800T>CCA349987562SLC40A1c.1186A>G (p.Ser396Gly)
c.1066A>G (p.Ser356Gly)
2g.189563800T>GCA349987563SLC40A1c.1186A>C (p.Ser396Arg)
c.1066A>C (p.Ser356Arg)
2g.189563801T>ACA430502765SLC40A1c.1185A>T (p.Gly395=)
c.1065A>T (p.Gly355=)
 dbSNP gnomAD v2 gnomAD v4
2g.189563801T>CCA430502767SLC40A1c.1185A>G (p.Gly395=)
c.1065A>G (p.Gly355=)
2g.189563801T>GCA430502769SLC40A1c.1185A>C (p.Gly395=)
c.1065A>C (p.Gly355=)
2g.189563801T=CA1315654055SLC40A1c.1185A= (p.Gly395=)
c.1065A= (p.Gly355=)
2g.189563802C>ACA349987565SLC40A1c.1184G>T (p.Gly395Val)
c.1064G>T (p.Gly355Val)
2g.189563802C=CA1315654057SLC40A1c.1184G= (p.Gly395=)
c.1064G= (p.Gly355=)
2g.189563802C>GCA349987566SLC40A1c.1184G>C (p.Gly395Ala)
c.1064G>C (p.Gly355Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189563802C>TCA349987564SLC40A1c.1184G>A (p.Gly395Glu)
c.1064G>A (p.Gly355Glu)
2g.189563803C>ACA349987569SLC40A1c.1183G>T (p.Gly395Ter)
c.1063G>T (p.Gly355Ter)
2g.189563803C>GCA349987567SLC40A1c.1183G>C (p.Gly395Arg)
c.1063G>C (p.Gly355Arg)
2g.189563803C>TCA349987568SLC40A1c.1183G>A (p.Gly395Arg)
c.1063G>A (p.Gly355Arg)
2g.189563804A>CCA430502772SLC40A1c.1182T>G (p.Pro394=)
c.1062T>G (p.Pro354=)
2g.189563804A>GCA430502773SLC40A1c.1182T>C (p.Pro394=)
c.1062T>C (p.Pro354=)
 gnomAD v4
2g.189563804A>TCA430502775SLC40A1c.1182T>A (p.Pro394=)
c.1062T>A (p.Pro354=)
2g.189563805G>ACA349987570SLC40A1c.1181C>T (p.Pro394Leu)
c.1061C>T (p.Pro354Leu)
 gnomAD v4
2g.189563805G>CCA349987571SLC40A1c.1181C>G (p.Pro394Arg)
c.1061C>G (p.Pro354Arg)
2g.189563805G>TCA349987572SLC40A1c.1181C>A (p.Pro394His)
c.1061C>A (p.Pro354His)

Number of alleles fetched