Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.48750356G>ACA406701927FUT1c.926C>T (p.Thr309Ile)
c.1295C>T (p.Thr432Ile)
19g.48750356G>CCA406701929FUT1c.926C>G (p.Thr309Ser)
c.1295C>G (p.Thr432Ser)
19g.48750356G>TCA406701928FUT1c.926C>A (p.Thr309Asn)
c.1295C>A (p.Thr432Asn)
19g.48750357T>ACA406701930FUT1c.925A>T (p.Thr309Ser)
c.1294A>T (p.Thr432Ser)
19g.48750357T>CCA406701931FUT1c.925A>G (p.Thr309Ala)
c.1294A>G (p.Thr432Ala)
19g.48750357T>GCA406701932FUT1c.925A>C (p.Thr309Pro)
c.1294A>C (p.Thr432Pro)
19g.48750358G>ACA508054424FUT1c.924C>T (p.Gly308=)
c.1293C>T (p.Gly431=)
19g.48750358G>CCA508054425FUT1c.924C>G (p.Gly308=)
c.1293C>G (p.Gly431=)
 gnomAD v4
19g.48750358G>TCA508054427FUT1c.924C>A (p.Gly308=)
c.1293C>A (p.Gly431=)
19g.48750359C>ACA9557654FUT1c.923G>T (p.Gly308Val)
c.1292G>T (p.Gly431Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.48750359C=CA2340052608FUT1c.923G= (p.Gly308=)
c.1292G= (p.Gly431=)
19g.48750359C>GCA406701934FUT1c.923G>C (p.Gly308Ala)
c.1292G>C (p.Gly431Ala)
 dbSNP gnomAD v2 gnomAD v4
19g.48750359C>TCA406701936FUT1c.923G>A (p.Gly308Asp)
c.1292G>A (p.Gly431Asp)
19g.48750360C>ACA406701938FUT1c.922G>T (p.Gly308Cys)
c.1291G>T (p.Gly431Cys)
19g.48750360C=CA2340052609FUT1c.922G= (p.Gly308=)
c.1291G= (p.Gly431=)
19g.48750360C>GCA406702061FUT1c.922G>C (p.Gly308Arg)
c.1291G>C (p.Gly431Arg)
19g.48750360C>TCA9557655FUT1c.922G>A (p.Gly308Ser)
c.1291G>A (p.Gly431Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.48750361A>CCA406702065FUT1c.921T>G (p.Ile307Met)
c.1290T>G (p.Ile430Met)
 gnomAD v4
19g.48750361A>GCA508054442FUT1c.921T>C (p.Ile307=)
c.1290T>C (p.Ile430=)
 gnomAD v4
19g.48750361A>TCA508054446FUT1c.921T>A (p.Ile307=)
c.1290T>A (p.Ile430=)
19g.48750362A=CA2340052610FUT1c.920T= (p.Ile307=)
c.1289T= (p.Ile430=)
19g.48750362A>CCA406702075FUT1c.920T>G (p.Ile307Ser)
c.1289T>G (p.Ile430Ser)
19g.48750362A>GCA406702074FUT1c.920T>C (p.Ile307Thr)
c.1289T>C (p.Ile430Thr)
 dbSNP gnomAD v3 gnomAD v4
19g.48750362A>TCA406702071FUT1c.920T>A (p.Ile307Asn)
c.1289T>A (p.Ile430Asn)
19g.48750363T>ACA406702078FUT1c.919A>T (p.Ile307Phe)
c.1288A>T (p.Ile430Phe)
19g.48750363T>CCA406702079FUT1c.919A>G (p.Ile307Val)
c.1288A>G (p.Ile430Val)
 dbSNP gnomAD v2 gnomAD v4
19g.48750363T>GCA406702080FUT1c.919A>C (p.Ile307Leu)
c.1288A>C (p.Ile430Leu)
19g.48750363T=CA2340052611FUT1c.919A= (p.Ile307=)
c.1288A= (p.Ile430=)
19g.48750364G>ACA508054461FUT1c.918C>T (p.Thr306=)
c.1287C>T (p.Thr429=)
19g.48750364G>CCA508054463FUT1c.918C>G (p.Thr306=)
c.1287C>G (p.Thr429=)
19g.48750364G>TCA508054465FUT1c.918C>A (p.Thr306=)
c.1287C>A (p.Thr429=)
19g.48750365G>ACA406702082FUT1c.917C>T (p.Thr306Ile)
c.1286C>T (p.Thr429Ile)
19g.48750365G>CCA406702083FUT1c.917C>G (p.Thr306Ser)
c.1286C>G (p.Thr429Ser)
19g.48750365G>TCA406702085FUT1c.917C>A (p.Thr306Asn)
c.1286C>A (p.Thr429Asn)
 gnomAD v4 COSMIC
19g.48750366T>ACA406702086FUT1c.916A>T (p.Thr306Ser)
c.1285A>T (p.Thr429Ser)
19g.48750366T>CCA406702087FUT1c.916A>G (p.Thr306Ala)
c.1285A>G (p.Thr429Ala)
19g.48750366T>GCA406702088FUT1c.916A>C (p.Thr306Pro)
c.1285A>C (p.Thr429Pro)
19g.48750367C>ACA406702089FUT1c.915G>T (p.Met305Ile)
c.1284G>T (p.Met428Ile)
19g.48750367C>GCA406702090FUT1c.915G>C (p.Met305Ile)
c.1284G>C (p.Met428Ile)
19g.48750367C>TCA406702091FUT1c.915G>A (p.Met305Ile)
c.1284G>A (p.Met428Ile)
19g.48750368A=CA2340052612FUT1c.914T= (p.Met305=)
c.1283T= (p.Met428=)
19g.48750368A>CCA406702093FUT1c.914T>G (p.Met305Arg)
c.1283T>G (p.Met428Arg)
19g.48750368A>GCA9557656FUT1c.914T>C (p.Met305Thr)
c.1283T>C (p.Met428Thr)
 dbSNP ExAC gnomAD v4
19g.48750368A>TCA406702092FUT1c.914T>A (p.Met305Lys)
c.1283T>A (p.Met428Lys)
19g.48750369T>ACA406702094FUT1c.913A>T (p.Met305Leu)
c.1282A>T (p.Met428Leu)
19g.48750369T>CCA406702095FUT1c.913A>G (p.Met305Val)
c.1282A>G (p.Met428Val)
19g.48750369T>GCA406702096FUT1c.913A>C (p.Met305Leu)
c.1282A>C (p.Met428Leu)
19g.48750370A>CCA406702097FUT1c.912T>G (p.Ile304Met)
c.1281T>G (p.Ile427Met)
19g.48750370A>GCA508054481FUT1c.912T>C (p.Ile304=)
c.1281T>C (p.Ile427=)
 gnomAD v4
19g.48750370A>TCA508054483FUT1c.912T>A (p.Ile304=)
c.1281T>A (p.Ile427=)
19g.48750371A>CCA406702098FUT1c.911T>G (p.Ile304Ser)
c.1280T>G (p.Ile427Ser)
19g.48750371A>GCA406702099FUT1c.911T>C (p.Ile304Thr)
c.1280T>C (p.Ile427Thr)
19g.48750371A>TCA406702100FUT1c.911T>A (p.Ile304Asn)
c.1280T>A (p.Ile427Asn)
19g.48750372T>ACA406702101FUT1c.910A>T (p.Ile304Phe)
c.1279A>T (p.Ile427Phe)
19g.48750372T>CCA406702102FUT1c.910A>G (p.Ile304Val)
c.1279A>G (p.Ile427Val)
 gnomAD v4
19g.48750372T>GCA406702103FUT1c.910A>C (p.Ile304Leu)
c.1279A>C (p.Ile427Leu)
19g.48750373G>ACA508054491FUT1c.909C>T (p.Thr303=)
c.1278C>T (p.Thr426=)
19g.48750373G>CCA508054492FUT1c.909C>G (p.Thr303=)
c.1278C>G (p.Thr426=)
19g.48750373G>TCA508054496FUT1c.909C>A (p.Thr303=)
c.1278C>A (p.Thr426=)
19g.48750374G>ACA406702104FUT1c.908C>T (p.Thr303Ile)
c.1277C>T (p.Thr426Ile)
19g.48750374G>CCA406702105FUT1c.908C>G (p.Thr303Ser)
c.1277C>G (p.Thr426Ser)
 dbSNP gnomAD v4
19g.48750374G=CA2340052613FUT1c.908C= (p.Thr303=)
c.1277C= (p.Thr426=)
19g.48750374G>TCA406702106FUT1c.908C>A (p.Thr303Asn)
c.1277C>A (p.Thr426Asn)
19g.48750375T>ACA406702109FUT1c.907A>T (p.Thr303Ser)
c.1276A>T (p.Thr426Ser)
19g.48750375T>CCA406702108FUT1c.907A>G (p.Thr303Ala)
c.1276A>G (p.Thr426Ala)
 dbSNP
19g.48750375T>GCA406702107FUT1c.907A>C (p.Thr303Pro)
c.1276A>C (p.Thr426Pro)
19g.48750375T=CA2340052614FUT1c.907A= (p.Thr303=)
c.1276A= (p.Thr426=)
19g.48750376G>ACA508054510FUT1c.906C>T (p.His302=)
c.1275C>T (p.His425=)
19g.48750376G>CCA406702110FUT1c.906C>G (p.His302Gln)
c.1275C>G (p.His425Gln)
19g.48750376G>TCA406702111FUT1c.906C>A (p.His302Gln)
c.1275C>A (p.His425Gln)
19g.48750377T>ACA406702112FUT1c.905A>T (p.His302Leu)
c.1274A>T (p.His425Leu)
19g.48750377T>CCA406702113FUT1c.905A>G (p.His302Arg)
c.1274A>G (p.His425Arg)
 gnomAD v4 COSMIC
19g.48750377T>GCA406702114FUT1c.905A>C (p.His302Pro)
c.1274A>C (p.His425Pro)
19g.48750378G>ACA406702115FUT1c.904C>T (p.His302Tyr)
c.1273C>T (p.His425Tyr)
19g.48750378G>CCA406702116FUT1c.904C>G (p.His302Asp)
c.1273C>G (p.His425Asp)
19g.48750378G=CA2340052615FUT1c.904C= (p.His302=)
c.1273C= (p.His425=)
19g.48750378G>TCA406702117FUT1c.904C>A (p.His302Asn)
c.1273C>A (p.His425Asn)
 dbSNP gnomAD v2 gnomAD v4
19g.48750379G>ACA508054520FUT1c.903C>T (p.Asn301=)
c.1272C>T (p.Asn424=)
19g.48750379G>CCA406702118FUT1c.903C>G (p.Asn301Lys)
c.1272C>G (p.Asn424Lys)
19g.48750379G>TCA406702119FUT1c.903C>A (p.Asn301Lys)
c.1272C>A (p.Asn424Lys)
19g.48750380_48750382dupCA2695228992FUT1c.901_903dup (p.Asn301_His302insAsn)
c.1270_1272dup (p.Asn424_His425insAsn)
19g.48750380T>ACA406702120FUT1c.902A>T (p.Asn301Ile)
c.1271A>T (p.Asn424Ile)
19g.48750380T>CCA406702121FUT1c.902A>G (p.Asn301Ser)
c.1271A>G (p.Asn424Ser)
 gnomAD v4
19g.48750380T>GCA406702122FUT1c.902A>C (p.Asn301Thr)
c.1271A>C (p.Asn424Thr)
19g.48750381T>ACA406702123FUT1c.901A>T (p.Asn301Tyr)
c.1270A>T (p.Asn424Tyr)
19g.48750381T>CCA406702125FUT1c.901A>G (p.Asn301Asp)
c.1270A>G (p.Asn424Asp)
19g.48750381T>GCA406702124FUT1c.901A>C (p.Asn301His)
c.1270A>C (p.Asn424His)
19g.48750382G>ACA508054529FUT1c.900C>T (p.Cys300=)
c.1269C>T (p.Cys423=)
19g.48750382G>CCA406702126FUT1c.900C>G (p.Cys300Trp)
c.1269C>G (p.Cys423Trp)
 gnomAD v4
19g.48750382G>TCA406702127FUT1c.900C>A (p.Cys300Ter)
c.1269C>A (p.Cys423Ter)
19g.48750383C>ACA406702128FUT1c.899G>T (p.Cys300Phe)
c.1268G>T (p.Cys423Phe)
19g.48750383C>GCA406702129FUT1c.899G>C (p.Cys300Ser)
c.1268G>C (p.Cys423Ser)
19g.48750383C>TCA406702130FUT1c.899G>A (p.Cys300Tyr)
c.1268G>A (p.Cys423Tyr)
19g.48750384A>CCA406702131FUT1c.898T>G (p.Cys300Gly)
c.1267T>G (p.Cys423Gly)
19g.48750384A>GCA406702132FUT1c.898T>C (p.Cys300Arg)
c.1267T>C (p.Cys423Arg)
19g.48750384A>TCA406702133FUT1c.898T>A (p.Cys300Ser)
c.1267T>A (p.Cys423Ser)
19g.48750385C>ACA406702134FUT1c.897G>T (p.Gln299His)
c.1266G>T (p.Gln422His)
19g.48750385C>GCA406702135FUT1c.897G>C (p.Gln299His)
c.1266G>C (p.Gln422His)
19g.48750385C>TCA508274122FUT1c.897G>A (p.Gln299=)
c.1266G>A (p.Gln422=)
19g.48750386T>ACA406702136FUT1c.896A>T (p.Gln299Leu)
c.1265A>T (p.Gln422Leu)
19g.48750386T>CCA406702137FUT1c.896A>G (p.Gln299Arg)
c.1265A>G (p.Gln422Arg)
19g.48750386T>GCA406702138FUT1c.896A>C (p.Gln299Pro)
c.1265A>C (p.Gln422Pro)
19g.48750387G>ACA406702139FUT1c.895C>T (p.Gln299Ter)
c.1264C>T (p.Gln422Ter)
 gnomAD v4
19g.48750387G>CCA406702140FUT1c.895C>G (p.Gln299Glu)
c.1264C>G (p.Gln422Glu)
19g.48750387G>TCA406702141FUT1c.895C>A (p.Gln299Lys)
c.1264C>A (p.Gln422Lys)
 gnomAD v4
19g.48750388T>ACA508274127FUT1c.894A>T (p.Thr298=)
c.1263A>T (p.Thr421=)
19g.48750388T>CCA9557657FUT1c.894A>G (p.Thr298=)
c.1263A>G (p.Thr421=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.48750388T>GCA508274132FUT1c.894A>C (p.Thr298=)
c.1263A>C (p.Thr421=)
19g.48750388T=CA2340052616FUT1c.894A= (p.Thr298=)
c.1263A= (p.Thr421=)
19g.48750389G>ACA406702142FUT1c.893C>T (p.Thr298Ile)
c.1262C>T (p.Thr421Ile)
19g.48750389G>CCA406702143FUT1c.893C>G (p.Thr298Arg)
c.1262C>G (p.Thr421Arg)
19g.48750389G>TCA406702144FUT1c.893C>A (p.Thr298Lys)
c.1262C>A (p.Thr421Lys)
19g.48750390T>ACA406702145FUT1c.892A>T (p.Thr298Ser)
c.1261A>T (p.Thr421Ser)
19g.48750390T>CCA406702146FUT1c.892A>G (p.Thr298Ala)
c.1261A>G (p.Thr421Ala)
19g.48750390T>GCA406702147FUT1c.892A>C (p.Thr298Pro)
c.1261A>C (p.Thr421Pro)
19g.48750391G>ACA508274136FUT1c.891C>T (p.Leu297=)
c.1260C>T (p.Leu420=)
19g.48750391G>CCA508274139FUT1c.891C>G (p.Leu297=)
c.1260C>G (p.Leu420=)
19g.48750391G=CA2340052617FUT1c.891C= (p.Leu297=)
c.1260C= (p.Leu420=)
19g.48750391G>TCA9557658FUT1c.891C>A (p.Leu297=)
c.1260C>A (p.Leu420=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.48750392A>CCA406702148FUT1c.890T>G (p.Leu297Arg)
c.1259T>G (p.Leu420Arg)
19g.48750392A>GCA406702149FUT1c.890T>C (p.Leu297Pro)
c.1259T>C (p.Leu420Pro)
19g.48750392A>TCA406702150FUT1c.890T>A (p.Leu297His)
c.1259T>A (p.Leu420His)
19g.48750393G>ACA406702151FUT1c.889C>T (p.Leu297Phe)
c.1258C>T (p.Leu420Phe)
 COSMIC
19g.48750393G>CCA406702152FUT1c.889C>G (p.Leu297Val)
c.1258C>G (p.Leu420Val)
19g.48750393G>TCA406702153FUT1c.889C>A (p.Leu297Ile)
c.1258C>A (p.Leu420Ile)
19g.48750394C>ACA508274144FUT1c.888G>T (p.Leu296=)
c.1257G>T (p.Leu419=)
 dbSNP
19g.48750394C=CA2340052618FUT1c.888G= (p.Leu296=)
c.1257G= (p.Leu419=)
19g.48750394C>GCA508274146FUT1c.888G>C (p.Leu296=)
c.1257G>C (p.Leu419=)
 dbSNP gnomAD v2 gnomAD v4
19g.48750394C>TCA508274149FUT1c.888G>A (p.Leu296=)
c.1257G>A (p.Leu419=)
19g.48750395A=CA2340052619FUT1c.887T= (p.Leu296=)
c.1256T= (p.Leu419=)
19g.48750395A>CCA406702155FUT1c.887T>G (p.Leu296Arg)
c.1256T>G (p.Leu419Arg)
19g.48750395A>GCA406702154FUT1c.887T>C (p.Leu296Pro)
c.1256T>C (p.Leu419Pro)
19g.48750395A>TCA309357767FUT1c.887T>A (p.Leu296Gln)
c.1256T>A (p.Leu419Gln)
 dbSNP
19g.48750396G>ACA508274151FUT1c.886C>T (p.Leu296=)
c.1255C>T (p.Leu419=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.48750396G>CCA406702157FUT1c.886C>G (p.Leu296Val)
c.1255C>G (p.Leu419Val)
 gnomAD v4
19g.48750396G=CA2340052620FUT1c.886C= (p.Leu296=)
c.1255C= (p.Leu419=)
19g.48750396G>TCA406702156FUT1c.886C>A (p.Leu296Met)
c.1255C>A (p.Leu419Met)
19g.48750397G>ACA508274152FUT1c.885C>T (p.Ala295=)
c.1254C>T (p.Ala418=)
19g.48750397G>CCA508274154FUT1c.885C>G (p.Ala295=)
c.1254C>G (p.Ala418=)
 dbSNP gnomAD v2
19g.48750397G=CA2340052621FUT1c.885C= (p.Ala295=)
c.1254C= (p.Ala418=)
19g.48750397G>TCA508274158FUT1c.885C>A (p.Ala295=)
c.1254C>A (p.Ala418=)
19g.48750398G>ACA406702158FUT1c.884C>T (p.Ala295Val)
c.1253C>T (p.Ala418Val)
 dbSNP gnomAD v2 gnomAD v4
19g.48750398G>CCA406702159FUT1c.884C>G (p.Ala295Gly)
c.1253C>G (p.Ala418Gly)
19g.48750398G=CA2340052622FUT1c.884C= (p.Ala295=)
c.1253C= (p.Ala418=)
19g.48750398G>TCA406702160FUT1c.884C>A (p.Ala295Asp)
c.1253C>A (p.Ala418Asp)
19g.48750399C>ACA406702161FUT1c.883G>T (p.Ala295Ser)
c.1252G>T (p.Ala418Ser)
19g.48750399C=CA2340052624FUT1c.883G= (p.Ala295=)
c.1252G= (p.Ala418=)
19g.48750399C>GCA406702162FUT1c.883G>C (p.Ala295Pro)
c.1252G>C (p.Ala418Pro)
19g.48750399C>TCA406702163FUT1c.883G>A (p.Ala295Thr)
c.1252G>A (p.Ala418Thr)
 dbSNP gnomAD v4
19g.48750399_48750401delinsCAACA2340052623FUT1c.881_883delinsTTG (p.Phe294=)
c.1250_1252delinsTTG (p.Phe417=)
19g.48750400A>CCA406702164FUT1c.882T>G (p.Phe294Leu)
c.1251T>G (p.Phe417Leu)
19g.48750400A>GCA508274162FUT1c.882T>C (p.Phe294=)
c.1251T>C (p.Phe417=)
 gnomAD v4
19g.48750400A>TCA406702165FUT1c.882T>A (p.Phe294Leu)
c.1251T>A (p.Phe417Leu)
19g.48750401_48750402delCA9557659FUT1c.881_882del (p.Phe294CysfsTer?)
c.1250_1251del (p.Phe417CysfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.48750401A>CCA406702166FUT1c.881T>G (p.Phe294Cys)
c.1250T>G (p.Phe417Cys)
19g.48750401A>GCA406702167FUT1c.881T>C (p.Phe294Ser)
c.1250T>C (p.Phe417Ser)
19g.48750401A>TCA406702168FUT1c.881T>A (p.Phe294Tyr)
c.1250T>A (p.Phe417Tyr)
19g.48750402A=CA2340052625FUT1c.880T= (p.Phe294=)
c.1249T= (p.Phe417=)
19g.48750402A>CCA406702171FUT1c.880T>G (p.Phe294Val)
c.1249T>G (p.Phe417Val)
 dbSNP gnomAD v4
19g.48750402A>GCA406702169FUT1c.880T>C (p.Phe294Leu)
c.1249T>C (p.Phe417Leu)
19g.48750402A>TCA406702170FUT1c.880T>A (p.Phe294Ile)
c.1249T>A (p.Phe417Ile)
19g.48750403G>ACA508274169FUT1c.879C>T (p.Asp293=)
c.1248C>T (p.Asp416=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.48750403G>CCA406702172FUT1c.879C>G (p.Asp293Glu)
c.1248C>G (p.Asp416Glu)
19g.48750403G=CA2340052626FUT1c.879C= (p.Asp293=)
c.1248C= (p.Asp416=)
19g.48750403G>TCA406702173FUT1c.879C>A (p.Asp293Glu)
c.1248C>A (p.Asp416Glu)
19g.48750404T>ACA406702174FUT1c.878A>T (p.Asp293Val)
c.1247A>T (p.Asp416Val)
 dbSNP
19g.48750404T>CCA406702175FUT1c.878A>G (p.Asp293Gly)
c.1247A>G (p.Asp416Gly)
19g.48750404T>GCA406702176FUT1c.878A>C (p.Asp293Ala)
c.1247A>C (p.Asp416Ala)
19g.48750404T=CA2340052627FUT1c.878A= (p.Asp293=)
c.1247A= (p.Asp416=)
19g.48750405C>ACA406702177FUT1c.877G>T (p.Asp293Tyr)
c.1246G>T (p.Asp416Tyr)
19g.48750405C=CA2340052628FUT1c.877G= (p.Asp293=)
c.1246G= (p.Asp416=)
19g.48750405C>GCA309357778FUT1c.877G>C (p.Asp293His)
c.1246G>C (p.Asp416His)
 dbSNP gnomAD v2 gnomAD v4
19g.48750405C>TCA406702178FUT1c.877G>A (p.Asp293Asn)
c.1246G>A (p.Asp416Asn)
19g.48750406T>ACA406702179FUT1c.876A>T (p.Lys292Asn)
c.1245A>T (p.Lys415Asn)
19g.48750406T>CCA508274174FUT1c.876A>G (p.Lys292=)
c.1245A>G (p.Lys415=)
 dbSNP gnomAD v2 gnomAD v4
19g.48750406T>GCA406702180FUT1c.876A>C (p.Lys292Asn)
c.1245A>C (p.Lys415Asn)
19g.48750406T=CA2340052629FUT1c.876A= (p.Lys292=)
c.1245A= (p.Lys415=)
19g.48750407T>ACA309357782FUT1c.875A>T (p.Lys292Ile)
c.1244A>T (p.Lys415Ile)
 dbSNP gnomAD v3 gnomAD v4
19g.48750407T>CCA406702181FUT1c.875A>G (p.Lys292Arg)
c.1244A>G (p.Lys415Arg)
 gnomAD v4
19g.48750407T>GCA406702182FUT1c.875A>C (p.Lys292Thr)
c.1244A>C (p.Lys415Thr)
19g.48750407T=CA2340052630FUT1c.875A= (p.Lys292=)
c.1244A= (p.Lys415=)
19g.48750408T>ACA406702185FUT1c.874A>T (p.Lys292Ter)
c.1243A>T (p.Lys415Ter)
19g.48750408T>CCA406702184FUT1c.874A>G (p.Lys292Glu)
c.1243A>G (p.Lys415Glu)
19g.48750408T>GCA406702183FUT1c.874A>C (p.Lys292Gln)
c.1243A>C (p.Lys415Gln)
19g.48750409C>ACA406702186FUT1c.873G>T (p.Trp291Cys)
c.1242G>T (p.Trp414Cys)
19g.48750409C>GCA406702188FUT1c.873G>C (p.Trp291Cys)
c.1242G>C (p.Trp414Cys)
19g.48750409C>TCA406702187FUT1c.873G>A (p.Trp291Ter)
c.1242G>A (p.Trp414Ter)
19g.48750410C>ACA406702189FUT1c.872G>T (p.Trp291Leu)
c.1241G>T (p.Trp414Leu)
19g.48750410C>GCA406702190FUT1c.872G>C (p.Trp291Ser)
c.1241G>C (p.Trp414Ser)
19g.48750410C>TCA406702191FUT1c.872G>A (p.Trp291Ter)
c.1241G>A (p.Trp414Ter)
19g.48750411A=CA2340052631FUT1c.871T= (p.Trp291=)
c.1240T= (p.Trp414=)
19g.48750411A>CCA406702192FUT1c.871T>G (p.Trp291Gly)
c.1240T>G (p.Trp414Gly)
19g.48750411A>GCA406702193FUT1c.871T>C (p.Trp291Arg)
c.1240T>C (p.Trp414Arg)
 dbSNP
19g.48750411A>TCA406702194FUT1c.871T>A (p.Trp291Arg)
c.1240T>A (p.Trp414Arg)
19g.48750411dupCA2586255161FUT1c.871dup (p.Trp291LeufsTer?)
c.1240dup (p.Trp414LeufsTer?)
 gnomAD v4
19g.48750412C>ACA508274182FUT1c.870G>T (p.Pro290=)
c.1239G>T (p.Pro413=)
 dbSNP gnomAD v3 gnomAD v4
19g.48750412C=CA2340052632FUT1c.870G= (p.Pro290=)
c.1239G= (p.Pro413=)
19g.48750412C>GCA508274185FUT1c.870G>C (p.Pro290=)
c.1239G>C (p.Pro413=)
19g.48750412C>TCA508274187FUT1c.870G>A (p.Pro290=)
c.1239G>A (p.Pro413=)
 dbSNP gnomAD v4 COSMIC
19g.48750413G>ACA9557660FUT1c.869C>T (p.Pro290Leu)
c.1238C>T (p.Pro413Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.48750413G>CCA406702195FUT1c.869C>G (p.Pro290Arg)
c.1238C>G (p.Pro413Arg)
 dbSNP gnomAD v4
19g.48750413G=CA2340052633FUT1c.869C= (p.Pro290=)
c.1238C= (p.Pro413=)
19g.48750413G>TCA406702196FUT1c.869C>A (p.Pro290Gln)
c.1238C>A (p.Pro413Gln)
 gnomAD v4
19g.48750414G>ACA406702197FUT1c.868C>T (p.Pro290Ser)
c.1237C>T (p.Pro413Ser)
19g.48750414G>CCA406702198FUT1c.868C>G (p.Pro290Ala)
c.1237C>G (p.Pro413Ala)
 dbSNP gnomAD v2 gnomAD v4
19g.48750414G=CA2340052634FUT1c.868C= (p.Pro290=)
c.1237C= (p.Pro413=)
19g.48750414G>TCA406702199FUT1c.868C>A (p.Pro290Thr)
c.1237C>A (p.Pro413Thr)
19g.48750415T>ACA508274189FUT1c.867A>T (p.Thr289=)
c.1236A>T (p.Thr412=)
19g.48750415T>CCA508274190FUT1c.867A>G (p.Thr289=)
c.1236A>G (p.Thr412=)
19g.48750415T>GCA508274191FUT1c.867A>C (p.Thr289=)
c.1236A>C (p.Thr412=)
19g.48750416G>ACA406702202FUT1c.866C>T (p.Thr289Ile)
c.1235C>T (p.Thr412Ile)
19g.48750416G>CCA406702200FUT1c.866C>G (p.Thr289Arg)
c.1235C>G (p.Thr412Arg)
19g.48750416G>TCA406702201FUT1c.866C>A (p.Thr289Lys)
c.1235C>A (p.Thr412Lys)
 gnomAD v4
19g.48750417T>ACA406702203FUT1c.865A>T (p.Thr289Ser)
c.1234A>T (p.Thr412Ser)
19g.48750417T>CCA406702204FUT1c.865A>G (p.Thr289Ala)
c.1234A>G (p.Thr412Ala)
19g.48750417T>GCA406702205FUT1c.865A>C (p.Thr289Pro)
c.1234A>C (p.Thr412Pro)
19g.48750418A>CCA508274194FUT1c.864T>G (p.Ala288=)
c.1233T>G (p.Ala411=)
19g.48750418A>GCA508274196FUT1c.864T>C (p.Ala288=)
c.1233T>C (p.Ala411=)
19g.48750418A>TCA508274197FUT1c.864T>A (p.Ala288=)
c.1233T>A (p.Ala411=)
19g.48750419G>ACA406702206FUT1c.863C>T (p.Ala288Val)
c.1232C>T (p.Ala411Val)
 dbSNP gnomAD v2 gnomAD v4
19g.48750419G>CCA406702207FUT1c.863C>G (p.Ala288Gly)
c.1232C>G (p.Ala411Gly)
19g.48750419G=CA2340052635FUT1c.863C= (p.Ala288=)
c.1232C= (p.Ala411=)
19g.48750419G>TCA406702208FUT1c.863C>A (p.Ala288Asp)
c.1232C>A (p.Ala411Asp)
19g.48750420C>ACA406702209FUT1c.862G>T (p.Ala288Ser)
c.1231G>T (p.Ala411Ser)
19g.48750420C=CA2340052636FUT1c.862G= (p.Ala288=)
c.1231G= (p.Ala411=)
19g.48750420C>GCA406702210FUT1c.862G>C (p.Ala288Pro)
c.1231G>C (p.Ala411Pro)
19g.48750420C>TCA309357789FUT1c.862G>A (p.Ala288Thr)
c.1231G>A (p.Ala411Thr)
 dbSNP gnomAD v3 gnomAD v4
19g.48750421C>ACA406702211FUT1c.861G>T (p.Glu287Asp)
c.1230G>T (p.Glu410Asp)
19g.48750421C>GCA406702212FUT1c.861G>C (p.Glu287Asp)
c.1230G>C (p.Glu410Asp)
19g.48750421C>TCA508274201FUT1c.861G>A (p.Glu287=)
c.1230G>A (p.Glu410=)
19g.48750422T>ACA406702215FUT1c.860A>T (p.Glu287Val)
c.1229A>T (p.Glu410Val)
19g.48750422T>CCA406702214FUT1c.860A>G (p.Glu287Gly)
c.1229A>G (p.Glu410Gly)
19g.48750422T>GCA406702213FUT1c.860A>C (p.Glu287Ala)
c.1229A>C (p.Glu410Ala)
19g.48750423C>ACA406702218FUT1c.859G>T (p.Glu287Ter)
c.1228G>T (p.Glu410Ter)
19g.48750423C>GCA406702216FUT1c.859G>C (p.Glu287Gln)
c.1228G>C (p.Glu410Gln)
19g.48750423C>TCA406702217FUT1c.859G>A (p.Glu287Lys)
c.1228G>A (p.Glu410Lys)
 gnomAD v4 COSMIC
19g.48750424C>ACA406702219FUT1c.858G>T (p.Gln286His)
c.1227G>T (p.Gln409His)
19g.48750424C>GCA406702220FUT1c.858G>C (p.Gln286His)
c.1227G>C (p.Gln409His)
19g.48750424C>TCA508274206FUT1c.858G>A (p.Gln286=)
c.1227G>A (p.Gln409=)
19g.48750425T>ACA406702221FUT1c.857A>T (p.Gln286Leu)
c.1226A>T (p.Gln409Leu)
19g.48750425T>CCA406702222FUT1c.857A>G (p.Gln286Arg)
c.1226A>G (p.Gln409Arg)
19g.48750425T>GCA406702223FUT1c.857A>C (p.Gln286Pro)
c.1226A>C (p.Gln409Pro)
19g.48750426G>ACA406702224FUT1c.856C>T (p.Gln286Ter)
c.1225C>T (p.Gln409Ter)
19g.48750426G>CCA406702225FUT1c.856C>G (p.Gln286Glu)
c.1225C>G (p.Gln409Glu)
19g.48750426G>TCA406702226FUT1c.856C>A (p.Gln286Lys)
c.1225C>A (p.Gln409Lys)
19g.48750426_48750427insAGTAGATGGGACTACAGGCACAGGCCATTATGCCTGGCTAATTTTTGTATCA2563658485FUT1c.855_856insATACAAAAATTAGCCAGGCATAATGGCCTGTGCCTGTAGTCCCATCTACT (p.Gln286IlefsTer13)
c.1224_1225insATACAAAAATTAGCCAGGCATAATGGCCTGTGCCTGTAGTCCCATCTACT (p.Gln409IlefsTer13)
19g.48750427T>ACA508274210FUT1c.855A>T (p.Gly285=)
c.1224A>T (p.Gly408=)
19g.48750427T>CCA508274211FUT1c.855A>G (p.Gly285=)
c.1224A>G (p.Gly408=)
19g.48750427T>GCA508274212FUT1c.855A>C (p.Gly285=)
c.1224A>C (p.Gly408=)
19g.48750428C>ACA406702227FUT1c.854G>T (p.Gly285Val)
c.1223G>T (p.Gly408Val)
19g.48750428C=CA2340052637FUT1c.854G= (p.Gly285=)
c.1223G= (p.Gly408=)
19g.48750428C>GCA406702228FUT1c.854G>C (p.Gly285Ala)
c.1223G>C (p.Gly408Ala)
19g.48750428C>TCA9557661FUT1c.854G>A (p.Gly285Glu)
c.1223G>A (p.Gly408Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.48750429C>ACA406702231FUT1c.853G>T (p.Gly285Ter)
c.1222G>T (p.Gly408Ter)
19g.48750429C>GCA406702229FUT1c.853G>C (p.Gly285Arg)
c.1222G>C (p.Gly408Arg)
19g.48750429C>TCA406702230FUT1c.853G>A (p.Gly285Arg)
c.1222G>A (p.Gly408Arg)
 COSMIC
19g.48750430A=CA2340052638FUT1c.852T= (p.Asp284=)
c.1221T= (p.Asp407=)
19g.48750430A>CCA406702232FUT1c.852T>G (p.Asp284Glu)
c.1221T>G (p.Asp407Glu)
19g.48750430A>GCA9557662FUT1c.852T>C (p.Asp284=)
c.1221T>C (p.Asp407=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.48750430A>TCA406702233FUT1c.852T>A (p.Asp284Glu)
c.1221T>A (p.Asp407Glu)
19g.48750431T>ACA406702234FUT1c.851A>T (p.Asp284Val)
c.1220A>T (p.Asp407Val)
19g.48750431T>CCA406702235FUT1c.851A>G (p.Asp284Gly)
c.1220A>G (p.Asp407Gly)
 gnomAD v4
19g.48750431T>GCA406702236FUT1c.851A>C (p.Asp284Ala)
c.1220A>C (p.Asp407Ala)
19g.48750432C>ACA406702237FUT1c.850G>T (p.Asp284Tyr)
c.1219G>T (p.Asp407Tyr)
 gnomAD v4
19g.48750432C=CA2340052639FUT1c.850G= (p.Asp284=)
c.1219G= (p.Asp407=)
19g.48750432C>GCA406702238FUT1c.850G>C (p.Asp284His)
c.1219G>C (p.Asp407His)
19g.48750432C>TCA9557663FUT1c.850G>A (p.Asp284Asn)
c.1219G>A (p.Asp407Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.48750433G>ACA508274220FUT1c.849C>T (p.Gly283=)
c.1218C>T (p.Gly406=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.48750433G>CCA508274221FUT1c.849C>G (p.Gly283=)
c.1218C>G (p.Gly406=)
 gnomAD v4
19g.48750433G=CA2340052640FUT1c.849C= (p.Gly283=)
c.1218C= (p.Gly406=)
19g.48750433G>TCA508274222FUT1c.849C>A (p.Gly283=)
c.1218C>A (p.Gly406=)
 gnomAD v4
19g.48750434C>ACA406702239FUT1c.848G>T (p.Gly283Val)
c.1217G>T (p.Gly406Val)
19g.48750434C=CA2340052641FUT1c.848G= (p.Gly283=)
c.1217G= (p.Gly406=)
19g.48750434C>GCA406702240FUT1c.848G>C (p.Gly283Ala)
c.1217G>C (p.Gly406Ala)
 dbSNP gnomAD v2 gnomAD v4
19g.48750434C>TCA406702241FUT1c.848G>A (p.Gly283Asp)
c.1217G>A (p.Gly406Asp)
19g.48750435C>ACA406702243FUT1c.847G>T (p.Gly283Cys)
c.1216G>T (p.Gly406Cys)
19g.48750435C>GCA406702244FUT1c.847G>C (p.Gly283Arg)
c.1216G>C (p.Gly406Arg)
19g.48750435C>TCA406702242FUT1c.847G>A (p.Gly283Ser)
c.1216G>A (p.Gly406Ser)
 gnomAD v4
19g.48750436A=CA2340052642FUT1c.846T= (p.Ala282=)
c.1215T= (p.Ala405=)
19g.48750436A>CCA9557664FUT1c.846T>G (p.Ala282=)
c.1215T>G (p.Ala405=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.48750436A>GCA508274229FUT1c.846T>C (p.Ala282=)
c.1215T>C (p.Ala405=)
19g.48750436A>TCA508274231FUT1c.846T>A (p.Ala282=)
c.1215T>A (p.Ala405=)
19g.48750437G>ACA406702246FUT1c.845C>T (p.Ala282Val)
c.1214C>T (p.Ala405Val)
 dbSNP gnomAD v2 gnomAD v4
19g.48750437G>CCA406702245FUT1c.845C>G (p.Ala282Gly)
c.1214C>G (p.Ala405Gly)
 dbSNP gnomAD v2 gnomAD v4
19g.48750437G=CA2340052643FUT1c.845C= (p.Ala282=)
c.1214C= (p.Ala405=)
19g.48750437G>TCA406702247FUT1c.845C>A (p.Ala282Asp)
c.1214C>A (p.Ala405Asp)
19g.48750438C>ACA406702248FUT1c.844G>T (p.Ala282Ser)
c.1213G>T (p.Ala405Ser)
19g.48750438C=CA2340052644FUT1c.844G= (p.Ala282=)
c.1213G= (p.Ala405=)
19g.48750438C>GCA406702249FUT1c.844G>C (p.Ala282Pro)
c.1213G>C (p.Ala405Pro)
 dbSNP gnomAD v3 gnomAD v4
19g.48750438C>TCA406702250FUT1c.844G>A (p.Ala282Thr)
c.1213G>A (p.Ala405Thr)
19g.48750439A>CCA406702251FUT1c.843T>G (p.Phe281Leu)
c.1212T>G (p.Phe404Leu)
 dbSNP
19g.48750439A>GCA508274233FUT1c.843T>C (p.Phe281=)
c.1212T>C (p.Phe404=)
19g.48750439A>TCA406702252FUT1c.843T>A (p.Phe281Leu)
c.1212T>A (p.Phe404Leu)
19g.48750440A>CCA406702253FUT1c.842T>G (p.Phe281Cys)
c.1211T>G (p.Phe404Cys)
19g.48750440A>GCA406702254FUT1c.842T>C (p.Phe281Ser)
c.1211T>C (p.Phe404Ser)
19g.48750440A>TCA406702255FUT1c.842T>A (p.Phe281Tyr)
c.1211T>A (p.Phe404Tyr)
19g.48750441A>CCA406702256FUT1c.841T>G (p.Phe281Val)
c.1210T>G (p.Phe404Val)
19g.48750441A>GCA406702257FUT1c.841T>C (p.Phe281Leu)
c.1210T>C (p.Phe404Leu)
19g.48750441A>TCA406702258FUT1c.841T>A (p.Phe281Ile)
c.1210T>A (p.Phe404Ile)
19g.48750442C>ACA508274237FUT1c.840G>T (p.Thr280=)
c.1209G>T (p.Thr403=)
19g.48750442C=CA2340052645FUT1c.840G= (p.Thr280=)
c.1209G= (p.Thr403=)
19g.48750442C>GCA508274238FUT1c.840G>C (p.Thr280=)
c.1209G>C (p.Thr403=)
 dbSNP gnomAD v2 gnomAD v4
19g.48750442C>TCA9557665FUT1c.840G>A (p.Thr280=)
c.1209G>A (p.Thr403=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.48750443G>ACA9557666FUT1c.839C>T (p.Thr280Met)
c.1208C>T (p.Thr403Met)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.48750443G>CCA406702259FUT1c.839C>G (p.Thr280Arg)
c.1208C>G (p.Thr403Arg)
 dbSNP
19g.48750443G=CA2340052646FUT1c.839C= (p.Thr280=)
c.1208C= (p.Thr403=)
19g.48750443G>TCA406702260FUT1c.839C>A (p.Thr280Lys)
c.1208C>A (p.Thr403Lys)
19g.48750443_48750444delCA2814665338FUT1c.838_839del (p.Thr280ValfsTer?)
c.1207_1208del (p.Thr403ValfsTer?)
19g.48750444T>ACA406702261FUT1c.838A>T (p.Thr280Ser)
c.1207A>T (p.Thr403Ser)
19g.48750444T>CCA406702262FUT1c.838A>G (p.Thr280Ala)
c.1207A>G (p.Thr403Ala)
19g.48750444T>GCA406702263FUT1c.838A>C (p.Thr280Pro)
c.1207A>C (p.Thr403Pro)
 gnomAD v4
19g.48750445C>ACA508274244FUT1c.837G>T (p.Val279=)
c.1206G>T (p.Val402=)
19g.48750445C=CA2340052647FUT1c.837G= (p.Val279=)
c.1206G= (p.Val402=)
19g.48750445C>GCA508274245FUT1c.837G>C (p.Val279=)
c.1206G>C (p.Val402=)
19g.48750445C>TCA508274246FUT1c.837G>A (p.Val279=)
c.1206G>A (p.Val402=)
 dbSNP gnomAD v3 gnomAD v4
19g.48750446A=CA2340052648FUT1c.836T= (p.Val279=)
c.1205T= (p.Val402=)
19g.48750446A>CCA406702264FUT1c.836T>G (p.Val279Gly)
c.1205T>G (p.Val402Gly)
 dbSNP gnomAD v3 gnomAD v4
19g.48750446A>GCA406702265FUT1c.836T>C (p.Val279Ala)
c.1205T>C (p.Val402Ala)
19g.48750446A>TCA406702266FUT1c.836T>A (p.Val279Glu)
c.1205T>A (p.Val402Glu)
19g.48750447C>ACA406702267FUT1c.835G>T (p.Val279Leu)
c.1204G>T (p.Val402Leu)
19g.48750447C=CA2340052649FUT1c.835G= (p.Val279=)
c.1204G= (p.Val402=)
19g.48750447C>GCA406702268FUT1c.835G>C (p.Val279Leu)
c.1204G>C (p.Val402Leu)
19g.48750447C>TCA406702269FUT1c.835G>A (p.Val279Met)
c.1204G>A (p.Val402Met)
 dbSNP gnomAD v3 gnomAD v4
19g.48750448A=CA2340052650FUT1c.834T= (p.Asp278=)
c.1203T= (p.Asp401=)
19g.48750448A>CCA406702270FUT1c.834T>G (p.Asp278Glu)
c.1203T>G (p.Asp401Glu)
19g.48750448A>GCA508274253FUT1c.834T>C (p.Asp278=)
c.1203T>C (p.Asp401=)
 dbSNP
19g.48750448A>TCA406702271FUT1c.834T>A (p.Asp278Glu)
c.1203T>A (p.Asp401Glu)
19g.48750449T>ACA406702273FUT1c.833A>T (p.Asp278Val)
c.1202A>T (p.Asp401Val)
 gnomAD v4
19g.48750449T>CCA406702274FUT1c.833A>G (p.Asp278Gly)
c.1202A>G (p.Asp401Gly)
19g.48750449T>GCA406702272FUT1c.833A>C (p.Asp278Ala)
c.1202A>C (p.Asp401Ala)
19g.48750450C>ACA406702275FUT1c.832G>T (p.Asp278Tyr)
c.1201G>T (p.Asp401Tyr)
 gnomAD v4
19g.48750450C=CA2340052651FUT1c.832G= (p.Asp278=)
c.1201G= (p.Asp401=)
19g.48750450C>GCA406702276FUT1c.832G>C (p.Asp278His)
c.1201G>C (p.Asp401His)
 gnomAD v4
19g.48750450C>TCA406702277FUT1c.832G>A (p.Asp278Asn)
c.1201G>A (p.Asp401Asn)
 dbSNP gnomAD v4
19g.48750451G>ACA508274258FUT1c.831C>T (p.Gly277=)
c.1200C>T (p.Gly400=)
 dbSNP gnomAD v4 COSMIC
19g.48750451G>CCA508274257FUT1c.831C>G (p.Gly277=)
c.1200C>G (p.Gly400=)
19g.48750451G=CA2340052652FUT1c.831C= (p.Gly277=)
c.1200C= (p.Gly400=)
19g.48750451G>TCA508274256FUT1c.831C>A (p.Gly277=)
c.1200C>A (p.Gly400=)
 gnomAD v4
19g.48750452C>ACA406702278FUT1c.830G>T (p.Gly277Val)
c.1199G>T (p.Gly400Val)
19g.48750452C>GCA406702279FUT1c.830G>C (p.Gly277Ala)
c.1199G>C (p.Gly400Ala)
19g.48750452C>TCA406702280FUT1c.830G>A (p.Gly277Asp)
c.1199G>A (p.Gly400Asp)
 gnomAD v4
19g.48750453C>ACA406702281FUT1c.829G>T (p.Gly277Cys)
c.1198G>T (p.Gly400Cys)
19g.48750453C>GCA406702282FUT1c.829G>C (p.Gly277Arg)
c.1198G>C (p.Gly400Arg)
19g.48750453C>TCA406702283FUT1c.829G>A (p.Gly277Ser)
c.1198G>A (p.Gly400Ser)
19g.48750454C>ACA406702284FUT1c.828G>T (p.Gln276His)
c.1197G>T (p.Gln399His)
19g.48750454C=CA2340052653FUT1c.828G= (p.Gln276=)
c.1197G= (p.Gln399=)
19g.48750454C>GCA406702285FUT1c.828G>C (p.Gln276His)
c.1197G>C (p.Gln399His)
19g.48750454C>TCA9557667FUT1c.828G>A (p.Gln276=)
c.1197G>A (p.Gln399=)
 dbSNP ExAC
19g.48750455T>ACA406702287FUT1c.827A>T (p.Gln276Leu)
c.1196A>T (p.Gln399Leu)
19g.48750455T>CCA406702288FUT1c.827A>G (p.Gln276Arg)
c.1196A>G (p.Gln399Arg)
19g.48750455T>GCA406702286FUT1c.827A>C (p.Gln276Pro)
c.1196A>C (p.Gln399Pro)
19g.48750456G>ACA251325FUT1c.826C>T (p.Gln276Ter)
c.1195C>T (p.Gln399Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.48750456G>CCA406702289FUT1c.826C>G (p.Gln276Glu)
c.1195C>G (p.Gln399Glu)
19g.48750456G=CA2340052654FUT1c.826C= (p.Gln276=)
c.1195C= (p.Gln399=)
19g.48750456G>TCA406702290FUT1c.826C>A (p.Gln276Lys)
c.1195C>A (p.Gln399Lys)

Number of alleles fetched