Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189563674A>CCA349987295SLC40A1c.1312T>G (p.Ser438Ala)
c.1192T>G (p.Ser398Ala)
2g.189563674A>GCA349987296SLC40A1c.1312T>C (p.Ser438Pro)
c.1192T>C (p.Ser398Pro)
2g.189563674A>TCA349987297SLC40A1c.1312T>A (p.Ser438Thr)
c.1192T>A (p.Ser398Thr)
2g.189563675A>CCA349987298SLC40A1c.1311T>G (p.Asn437Lys)
c.1191T>G (p.Asn397Lys)
2g.189563675A>GCA430367245SLC40A1c.1311T>C (p.Asn437=)
c.1191T>C (p.Asn397=)
2g.189563675A>TCA349987299SLC40A1c.1311T>A (p.Asn437Lys)
c.1191T>A (p.Asn397Lys)
2g.189563676T>ACA349987300SLC40A1c.1310A>T (p.Asn437Ile)
c.1190A>T (p.Asn397Ile)
2g.189563676T>CCA349987301SLC40A1c.1310A>G (p.Asn437Ser)
c.1190A>G (p.Asn397Ser)
 gnomAD v4
2g.189563676T>GCA349987302SLC40A1c.1310A>C (p.Asn437Thr)
c.1190A>C (p.Asn397Thr)
2g.189563677T>ACA349987304SLC40A1c.1309A>T (p.Asn437Tyr)
c.1189A>T (p.Asn397Tyr)
2g.189563677T>CCA349987305SLC40A1c.1309A>G (p.Asn437Asp)
c.1189A>G (p.Asn397Asp)
2g.189563677T>GCA349987303SLC40A1c.1309A>C (p.Asn437His)
c.1189A>C (p.Asn397His)
2g.189563678A=CA1315653887SLC40A1c.1308T= (p.Ser436=)
c.1188T= (p.Ser396=)
2g.189563678A>CCA430367246SLC40A1c.1308T>G (p.Ser436=)
c.1188T>G (p.Ser396=)
 gnomAD v4
2g.189563678A>GCA430367247SLC40A1c.1308T>C (p.Ser436=)
c.1188T>C (p.Ser396=)
 dbSNP gnomAD v4
2g.189563678A>TCA430367248SLC40A1c.1308T>A (p.Ser436=)
c.1188T>A (p.Ser396=)
2g.189563679G>ACA62902884SLC40A1c.1307C>T (p.Ser436Phe)
c.1187C>T (p.Ser396Phe)
 dbSNP gnomAD v3 gnomAD v4
2g.189563679G>CCA349987306SLC40A1c.1307C>G (p.Ser436Cys)
c.1187C>G (p.Ser396Cys)
2g.189563679G=CA1315653890SLC40A1c.1307C= (p.Ser436=)
c.1187C= (p.Ser396=)
2g.189563679G>TCA349987307SLC40A1c.1307C>A (p.Ser436Tyr)
c.1187C>A (p.Ser396Tyr)
2g.189563680A>CCA349987308SLC40A1c.1306T>G (p.Ser436Ala)
c.1186T>G (p.Ser396Ala)
2g.189563680A>GCA349987309SLC40A1c.1306T>C (p.Ser436Pro)
c.1186T>C (p.Ser396Pro)
2g.189563680A>TCA349987310SLC40A1c.1306T>A (p.Ser436Thr)
c.1186T>A (p.Ser396Thr)
 gnomAD v4
2g.189563681C>ACA430367249SLC40A1c.1305G>T (p.Gly435=)
c.1185G>T (p.Gly395=)
 COSMIC
2g.189563681C>GCA430367250SLC40A1c.1305G>C (p.Gly435=)
c.1185G>C (p.Gly395=)
2g.189563681C>TCA430367251SLC40A1c.1305G>A (p.Gly435=)
c.1185G>A (p.Gly395=)
 gnomAD v4
2g.189563682C>ACA349987313SLC40A1c.1304G>T (p.Gly435Val)
c.1184G>T (p.Gly395Val)
 gnomAD v4
2g.189563682C>GCA349987311SLC40A1c.1304G>C (p.Gly435Ala)
c.1184G>C (p.Gly395Ala)
2g.189563682C>TCA349987312SLC40A1c.1304G>A (p.Gly435Glu)
c.1184G>A (p.Gly395Glu)
2g.189563683C>ACA349987314SLC40A1c.1303G>T (p.Gly435Trp)
c.1183G>T (p.Gly395Trp)
2g.189563683C>GCA349987315SLC40A1c.1303G>C (p.Gly435Arg)
c.1183G>C (p.Gly395Arg)
2g.189563683C>TCA349987316SLC40A1c.1303G>A (p.Gly435Arg)
c.1183G>A (p.Gly395Arg)
2g.189563684A>CCA349987317SLC40A1c.1302T>G (p.Asn434Lys)
c.1182T>G (p.Asn394Lys)
2g.189563684A>GCA430367252SLC40A1c.1302T>C (p.Asn434=)
c.1182T>C (p.Asn394=)
2g.189563684A>TCA349987318SLC40A1c.1302T>A (p.Asn434Lys)
c.1182T>A (p.Asn394Lys)
2g.189563685T>ACA349987319SLC40A1c.1301A>T (p.Asn434Ile)
c.1181A>T (p.Asn394Ile)
2g.189563685T>CCA2024085SLC40A1c.1301A>G (p.Asn434Ser)
c.1181A>G (p.Asn394Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563685T>GCA2024084SLC40A1c.1301A>C (p.Asn434Thr)
c.1181A>C (p.Asn394Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563685T=CA1315653895SLC40A1c.1301A= (p.Asn434=)
c.1181A= (p.Asn394=)
2g.189563686T>ACA349987320SLC40A1c.1300A>T (p.Asn434Tyr)
c.1180A>T (p.Asn394Tyr)
2g.189563686T>CCA349987321SLC40A1c.1300A>G (p.Asn434Asp)
c.1180A>G (p.Asn394Asp)
 dbSNP
2g.189563686T>GCA349987322SLC40A1c.1300A>C (p.Asn434His)
c.1180A>C (p.Asn394His)
2g.189563686T=CA1315653899SLC40A1c.1300A= (p.Asn434=)
c.1180A= (p.Asn394=)
2g.189563687A>CCA430367255SLC40A1c.1299T>G (p.Ser433=)
c.1179T>G (p.Ser393=)
2g.189563687A>GCA430367254SLC40A1c.1299T>C (p.Ser433=)
c.1179T>C (p.Ser393=)
2g.189563687A>TCA430367253SLC40A1c.1299T>A (p.Ser433=)
c.1179T>A (p.Ser393=)
2g.189563688G>ACA349987323SLC40A1c.1298C>T (p.Ser433Phe)
c.1178C>T (p.Ser393Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189563688G>CCA349987324SLC40A1c.1298C>G (p.Ser433Cys)
c.1178C>G (p.Ser393Cys)
2g.189563688G=CA1315653901SLC40A1c.1298C= (p.Ser433=)
c.1178C= (p.Ser393=)
2g.189563688G>TCA349987325SLC40A1c.1298C>A (p.Ser433Tyr)
c.1178C>A (p.Ser393Tyr)
2g.189563689A>CCA349987326SLC40A1c.1297T>G (p.Ser433Ala)
c.1177T>G (p.Ser393Ala)
2g.189563689A>GCA349987327SLC40A1c.1297T>C (p.Ser433Pro)
c.1177T>C (p.Ser393Pro)
2g.189563689A>TCA349987328SLC40A1c.1297T>A (p.Ser433Thr)
c.1177T>A (p.Ser393Thr)
2g.189563690C>ACA349987329SLC40A1c.1296G>T (p.Met432Ile)
c.1176G>T (p.Met392Ile)
2g.189563690C>GCA349987330SLC40A1c.1296G>C (p.Met432Ile)
c.1176G>C (p.Met392Ile)
 gnomAD v4
2g.189563690C>TCA349987331SLC40A1c.1296G>A (p.Met432Ile)
c.1176G>A (p.Met392Ile)
2g.189563691A=CA1315653905SLC40A1c.1295T= (p.Met432=)
c.1175T= (p.Met392=)
2g.189563691A>CCA349987333SLC40A1c.1295T>G (p.Met432Arg)
c.1175T>G (p.Met392Arg)
2g.189563691A>GCA2024086SLC40A1c.1295T>C (p.Met432Thr)
c.1175T>C (p.Met392Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563691A>TCA349987332SLC40A1c.1295T>A (p.Met432Lys)
c.1175T>A (p.Met392Lys)
2g.189563692T>ACA349987334SLC40A1c.1294A>T (p.Met432Leu)
c.1174A>T (p.Met392Leu)
2g.189563692T>CCA2024087SLC40A1c.1294A>G (p.Met432Val)
c.1174A>G (p.Met392Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189563692T>GCA2024088SLC40A1c.1294A>C (p.Met432Leu)
c.1174A>C (p.Met392Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563692T=CA1315653914SLC40A1c.1294A= (p.Met432=)
c.1174A= (p.Met392=)
2g.189563693G>ACA430367256SLC40A1c.1293C>T (p.Tyr431=)
c.1173C>T (p.Tyr391=)
 gnomAD v4
2g.189563693G>CCA349987335SLC40A1c.1293C>G (p.Tyr431Ter)
c.1173C>G (p.Tyr391Ter)
2g.189563693G>TCA349987336SLC40A1c.1293C>A (p.Tyr431Ter)
c.1173C>A (p.Tyr391Ter)
2g.189563694T>ACA349987337SLC40A1c.1292A>T (p.Tyr431Phe)
c.1172A>T (p.Tyr391Phe)
2g.189563694T>CCA349987338SLC40A1c.1292A>G (p.Tyr431Cys)
c.1172A>G (p.Tyr391Cys)
 gnomAD v4
2g.189563694T>GCA349987339SLC40A1c.1292A>C (p.Tyr431Ser)
c.1172A>C (p.Tyr391Ser)
2g.189563695A>CCA349987340SLC40A1c.1291T>G (p.Tyr431Asp)
c.1171T>G (p.Tyr391Asp)
2g.189563695A>GCA349987341SLC40A1c.1291T>C (p.Tyr431His)
c.1171T>C (p.Tyr391His)
 gnomAD v4
2g.189563695A>TCA349987342SLC40A1c.1291T>A (p.Tyr431Asn)
c.1171T>A (p.Tyr391Asn)
2g.189563696T>ACA430367257SLC40A1c.1290A>T (p.Ile430=)
c.1170A>T (p.Ile390=)
2g.189563696T>CCA349987343SLC40A1c.1290A>G (p.Ile430Met)
c.1170A>G (p.Ile390Met)
2g.189563696T>GCA430367258SLC40A1c.1290A>C (p.Ile430=)
c.1170A>C (p.Ile390=)
2g.189563697A>CCA349987344SLC40A1c.1289T>G (p.Ile430Arg)
c.1169T>G (p.Ile390Arg)
2g.189563697A>GCA349987345SLC40A1c.1289T>C (p.Ile430Thr)
c.1169T>C (p.Ile390Thr)
2g.189563697A>TCA349987346SLC40A1c.1289T>A (p.Ile430Lys)
c.1169T>A (p.Ile390Lys)
2g.189563698T>ACA349987349SLC40A1c.1288A>T (p.Ile430Leu)
c.1168A>T (p.Ile390Leu)
2g.189563698T>CCA349987348SLC40A1c.1288A>G (p.Ile430Val)
c.1168A>G (p.Ile390Val)
2g.189563698T>GCA349987347SLC40A1c.1288A>C (p.Ile430Leu)
c.1168A>C (p.Ile390Leu)
2g.189563699T>ACA349987350SLC40A1c.1287A>T (p.Glu429Asp)
c.1167A>T (p.Glu389Asp)
2g.189563699T>CCA430367259SLC40A1c.1287A>G (p.Glu429=)
c.1167A>G (p.Glu389=)
 gnomAD v4
2g.189563699T>GCA349987351SLC40A1c.1287A>C (p.Glu429Asp)
c.1167A>C (p.Glu389Asp)
2g.189563700T>ACA349987352SLC40A1c.1286A>T (p.Glu429Val)
c.1166A>T (p.Glu389Val)
2g.189563700T>CCA349987353SLC40A1c.1286A>G (p.Glu429Gly)
c.1166A>G (p.Glu389Gly)
2g.189563700T>GCA349987354SLC40A1c.1286A>C (p.Glu429Ala)
c.1166A>C (p.Glu389Ala)
2g.189563701C>ACA349987355SLC40A1c.1285G>T (p.Glu429Ter)
c.1165G>T (p.Glu389Ter)
2g.189563701C>GCA349987356SLC40A1c.1285G>C (p.Glu429Gln)
c.1165G>C (p.Glu389Gln)
2g.189563701C>TCA349987357SLC40A1c.1285G>A (p.Glu429Lys)
c.1165G>A (p.Glu389Lys)
2g.189563702A=CA1315653919SLC40A1c.1284T= (p.Thr428=)
c.1164T= (p.Thr388=)
2g.189563702A>CCA430367260SLC40A1c.1284T>G (p.Thr428=)
c.1164T>G (p.Thr388=)
2g.189563702A>GCA2024089SLC40A1c.1284T>C (p.Thr428=)
c.1164T>C (p.Thr388=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563702A>TCA430367261SLC40A1c.1284T>A (p.Thr428=)
c.1164T>A (p.Thr388=)
2g.189563703G>ACA349987358SLC40A1c.1283C>T (p.Thr428Ile)
c.1163C>T (p.Thr388Ile)
 dbSNP
2g.189563703G>CCA2024090SLC40A1c.1283C>G (p.Thr428Ser)
c.1163C>G (p.Thr388Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563703G=CA1315653921SLC40A1c.1283C= (p.Thr428=)
c.1163C= (p.Thr388=)
2g.189563703G>TCA349987359SLC40A1c.1283C>A (p.Thr428Asn)
c.1163C>A (p.Thr388Asn)
2g.189563704T>ACA349987361SLC40A1c.1282A>T (p.Thr428Ser)
c.1162A>T (p.Thr388Ser)
2g.189563704T>CCA349987360SLC40A1c.1282A>G (p.Thr428Ala)
c.1162A>G (p.Thr388Ala)
2g.189563704T>GCA2024091SLC40A1c.1282A>C (p.Thr428Pro)
c.1162A>C (p.Thr388Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189563704T=CA1315653927SLC40A1c.1282A= (p.Thr428=)
c.1162A= (p.Thr388=)
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=)

Number of alleles fetched