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NC_000001.10:g.(?_235613501)_(235667572_?)dup
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NC_000001.10:g.(?_235613511)_(235658148_?)dup
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NC_000001.10:g.(?_235613511)_(235667562_?)dup
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NC_000001.11:g.(?_235465599)_(235465734_?)del
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NC_000001.11:g.(?_235470840)_(235470970_?)dup
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NM_152490.5(B3GALNT2):c.1013A>G (p.Asn338Ser)
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rs1553343724 |
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NM_152490.5(B3GALNT2):c.1019A>G (p.Tyr340Cys)
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rs773864097 |
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NM_152490.5(B3GALNT2):c.102C>G (p.Ala34=)
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rs1358930332 |
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NM_152490.5(B3GALNT2):c.1040C>T (p.Thr347Met)
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NM_152490.5(B3GALNT2):c.1057C>G (p.Leu353Val)
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rs1553342995 |
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NM_152490.5(B3GALNT2):c.1069G>A (p.Asp357Asn)
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NM_152490.5(B3GALNT2):c.1076G>A (p.Cys359Tyr)
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rs1553342979 |
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NM_152490.5(B3GALNT2):c.107C>G (p.Pro36Arg)
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rs1553356108 |
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NM_152490.5(B3GALNT2):c.1089C>T (p.Leu363=)
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rs1057522976 |
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NM_152490.5(B3GALNT2):c.10T>C (p.Trp4Arg)
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rs1553356208 |
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NM_152490.5(B3GALNT2):c.1108A>T (p.Ile370Phe)
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rs1553342963 |
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NM_152490.5(B3GALNT2):c.112+10T>G
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rs1572574802 |
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NM_152490.5(B3GALNT2):c.1178G>A (p.Arg393Gln)
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rs140708018 |
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NM_152490.5(B3GALNT2):c.1207C>T (p.Pro403Ser)
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NM_152490.5(B3GALNT2):c.1214C>T (p.Pro405Leu)
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rs554797006 |
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NM_152490.5(B3GALNT2):c.1215C>T (p.Pro405=)
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rs145518904 |
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NM_152490.5(B3GALNT2):c.1216G>A (p.Ala406Thr)
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rs369079608 |
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NM_152490.5(B3GALNT2):c.1223del (p.Pro408fs)
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rs1553342786 |
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NM_152490.5(B3GALNT2):c.1255T>A (p.Ser419Thr)
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NM_152490.5(B3GALNT2):c.1275_1278delinsCCT (p.Trp425fs)
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NM_152490.5(B3GALNT2):c.1286A>G (p.Asn429Ser)
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NM_152490.5(B3GALNT2):c.1311+1G>C
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NM_152490.5(B3GALNT2):c.1311+9_1311+11del
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rs1572482653 |
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NM_152490.5(B3GALNT2):c.1318G>A (p.Asp440Asn)
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NM_152490.5(B3GALNT2):c.1368+3A>G
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rs1558407116 |
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NM_152490.5(B3GALNT2):c.1373G>A (p.Ser458Asn)
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rs202067569 |
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NM_152490.5(B3GALNT2):c.1394C>T (p.Thr465Ile)
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NM_152490.5(B3GALNT2):c.1397G>A (p.Cys466Tyr)
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rs1572474424 |
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NM_152490.5(B3GALNT2):c.1433C>T (p.Pro478Leu)
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rs373773440 |
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NM_152490.5(B3GALNT2):c.1445C>T (p.Thr482Met)
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rs541697587 |
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NM_152490.5(B3GALNT2):c.1453_1454del (p.Trp485fs)
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NM_152490.5(B3GALNT2):c.1468C>T (p.Arg490Trp)
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rs751445150 |
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NM_152490.5(B3GALNT2):c.1474G>A (p.Gly492Ser)
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rs772910525 |
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NM_152490.5(B3GALNT2):c.1486C>T (p.Arg496Ter)
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NM_152490.5(B3GALNT2):c.1487G>A (p.Arg496Gln)
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rs111541487 |
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NM_152490.5(B3GALNT2):c.152A>G (p.Tyr51Cys)
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rs61742900 |
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NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met)
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rs142756842 |
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NM_152490.5(B3GALNT2):c.199C>T (p.Arg67Ter)
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NM_152490.5(B3GALNT2):c.218C>G (p.Thr73Ser)
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NM_152490.5(B3GALNT2):c.249A>T (p.Thr83=)
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rs770930732 |
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NM_152490.5(B3GALNT2):c.259C>G (p.Arg87Gly)
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rs747653180 |
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NM_152490.5(B3GALNT2):c.268G>T (p.Val90Leu)
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NM_152490.5(B3GALNT2):c.276C>T (p.Phe92=)
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rs114039725 |
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NM_152490.5(B3GALNT2):c.279A>C (p.Ile93=)
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rs148341787 |
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NM_152490.5(B3GALNT2):c.29C>G (p.Pro10Arg)
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rs1335073175 |
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NM_152490.5(B3GALNT2):c.30G>A (p.Pro10=)
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rs986453979 |
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NM_152490.5(B3GALNT2):c.31T>G (p.Cys11Gly)
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NM_152490.5(B3GALNT2):c.321G>A (p.Glu107=)
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rs291396 |
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NM_152490.5(B3GALNT2):c.339A>G (p.Lys113=)
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NM_152490.5(B3GALNT2):c.347A>G (p.Asn116Ser)
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rs1572547857 |
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NM_152490.5(B3GALNT2):c.369T>C (p.Asn123=)
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rs149734145 |
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NM_152490.5(B3GALNT2):c.383C>T (p.Ala128Val)
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rs1572539209 |
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NM_152490.5(B3GALNT2):c.397G>A (p.Glu133Lys)
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rs146090744 |
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NM_152490.5(B3GALNT2):c.402C>T (p.Asp134=)
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rs144848710 |
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NM_152490.5(B3GALNT2):c.410C>T (p.Ser137Leu)
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rs140393851 |
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NM_152490.5(B3GALNT2):c.436A>C (p.Ser146Arg)
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NM_152490.5(B3GALNT2):c.439G>C (p.Val147Leu)
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rs143983025 |
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NM_152490.5(B3GALNT2):c.43G>A (p.Ala15Thr)
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rs997345764 |
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NM_152490.5(B3GALNT2):c.448C>T (p.Arg150Ter)
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rs1282726649 |
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NM_152490.5(B3GALNT2):c.458A>G (p.Tyr153Cys)
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NM_152490.5(B3GALNT2):c.458A>T (p.Tyr153Phe)
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rs757111780 |
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NM_152490.5(B3GALNT2):c.465C>T (p.Ile155=)
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rs138058326 |
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NM_152490.5(B3GALNT2):c.466G>A (p.Val156Ile)
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rs151133469 |
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NM_152490.5(B3GALNT2):c.46G>A (p.Ala16Thr)
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NM_152490.5(B3GALNT2):c.493G>A (p.Asp165Asn)
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NM_152490.5(B3GALNT2):c.500A>G (p.Asn167Ser)
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rs144123418 |
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NM_152490.5(B3GALNT2):c.538T>C (p.Tyr180His)
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NM_152490.5(B3GALNT2):c.555+5G>A
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NM_152490.5(B3GALNT2):c.574C>T (p.Arg192Cys)
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NM_152490.5(B3GALNT2):c.575G>A (p.Arg192His)
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rs201345883 |
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NM_152490.5(B3GALNT2):c.608A>G (p.Asn203Ser)
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NM_152490.5(B3GALNT2):c.628G>A (p.Val210Met)
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rs781198538 |
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NM_152490.5(B3GALNT2):c.629T>G (p.Val210Gly)
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NM_152490.5(B3GALNT2):c.652-2A>G
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rs1553347936 |
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NM_152490.5(B3GALNT2):c.699T>C (p.Leu233=)
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rs368068535 |
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NM_152490.5(B3GALNT2):c.699del (p.Val234fs)
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rs1572513308 |
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NM_152490.5(B3GALNT2):c.706A>G (p.Arg236Gly)
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rs113948040 |
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NM_152490.5(B3GALNT2):c.727G>C (p.Val243Leu)
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rs755405777 |
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NM_152490.5(B3GALNT2):c.73T>C (p.Ser25Pro)
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NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu)
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rs367543072 |
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NM_152490.5(B3GALNT2):c.748C>A (p.Leu250Ile)
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NM_152490.5(B3GALNT2):c.762+1G>A
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rs757347274 |
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NM_152490.5(B3GALNT2):c.790T>A (p.Phe264Ile)
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rs779469431 |
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NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met)
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rs367543074 |
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NM_152490.5(B3GALNT2):c.81G>T (p.Pro27=)
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rs766891631 |
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NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs)
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rs367543075 |
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NM_152490.5(B3GALNT2):c.842-1G>C
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rs764784497 |
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NM_152490.5(B3GALNT2):c.842-3T>G
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rs1247622470 |
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NM_152490.5(B3GALNT2):c.842-4A>G
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rs750335648 |
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NM_152490.5(B3GALNT2):c.865C>T (p.Leu289Phe)
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rs185213208 |
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NM_152490.5(B3GALNT2):c.886C>T (p.Leu296Phe)
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NM_152490.5(B3GALNT2):c.895C>G (p.His299Asp)
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NM_152490.5(B3GALNT2):c.896A>G (p.His299Arg)
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rs955249712 |
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NM_152490.5(B3GALNT2):c.959T>C (p.Ile320Thr)
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rs148808160 |