NM_000155.2(GALT):c.-119_-116delGTCA
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rs111033640 |
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
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NM_000155.4(GALT):c.1030C>A (p.Gln344Lys)
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rs111033814 |
NM_000155.4(GALT):c.1048del (p.Thr350fs)
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rs775762045 |
NM_000155.4(GALT):c.1052del (p.Pro351fs)
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rs111033813 |
NM_000155.4(GALT):c.1057C>T (p.Gln353Ter)
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rs111033818 |
NM_000155.4(GALT):c.1059+1G>T
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rs1554709516 |
NM_000155.4(GALT):c.1060-1G>A
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rs367543268 |
NM_000155.4(GALT):c.1140A>C (p.Ter380Cys)
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rs111033827 |
NM_000155.4(GALT):c.132del (p.Ser45fs)
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rs1554709139 |
NM_000155.4(GALT):c.14_23dup (p.Gln9fs)
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rs1554709110 |
NM_000155.4(GALT):c.164del (p.Gly55fs)
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rs1554709146 |
NM_000155.4(GALT):c.180del (p.Gln60fs)
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rs1554709148 |
NM_000155.4(GALT):c.189dup (p.Thr64fs)
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rs1554709151 |
NM_000155.4(GALT):c.18del (p.Asp7fs)
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rs111033638 |
NM_000155.4(GALT):c.221T>C (p.Leu74Pro)
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rs111033663 |
NM_000155.4(GALT):c.238C>T (p.Arg80Ter)
|
rs111033664 |
NM_000155.4(GALT):c.25C>T (p.Gln9Ter)
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rs111033848 |
NM_000155.4(GALT):c.290A>G (p.Asn97Ser)
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rs111033669 |
NM_000155.4(GALT):c.290A>T (p.Asn97Ile)
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rs111033669 |
NM_000155.4(GALT):c.292G>A (p.Asp98Asn)
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rs111033670 |
NM_000155.4(GALT):c.292G>C (p.Asp98His)
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rs111033670 |
NM_000155.4(GALT):c.29_48delinsGACC (p.Gln10fs)
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rs1587236467 |
NM_000155.4(GALT):c.2T>C (p.Met1Thr)
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rs771702963 |
NM_000155.4(GALT):c.307C>T (p.Gln103Ter)
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rs1225091358 |
NM_000155.4(GALT):c.378-2A>T
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rs1554709280 |
NM_000155.4(GALT):c.379A>G (p.Lys127Glu)
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rs111033682 |
NM_000155.4(GALT):c.385A>T (p.Met129Leu)
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rs193922248 |
NM_000155.4(GALT):c.394C>T (p.His132Tyr)
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rs111033688 |
NM_000155.4(GALT):c.404C>G (p.Ser135Trp)
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rs111033690 |
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)
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rs111033690 |
NM_000155.4(GALT):c.413C>T (p.Thr138Met)
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rs111033686 |
NM_000155.4(GALT):c.41delinsTT (p.Ala14fs)
|
rs111033634 |
NM_000155.4(GALT):c.428C>T (p.Ser143Leu)
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rs111033697 |
NM_000155.4(GALT):c.443G>A (p.Arg148Gln)
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rs111033694 |
NM_000155.4(GALT):c.502G>A (p.Val168Met)
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rs367543258 |
NM_000155.4(GALT):c.502G>T (p.Val168Leu)
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rs367543258 |
NM_000155.4(GALT):c.508-1G>C
|
rs398123181 |
NM_000155.4(GALT):c.512T>C (p.Phe171Ser)
|
rs111033715 |
NM_000155.4(GALT):c.513dup (p.Glu172Ter)
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rs886044409 |
NM_000155.4(GALT):c.514G>T (p.Glu172Ter)
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NM_000155.4(GALT):c.561C>A (p.Cys187Ter)
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NM_000155.4(GALT):c.561_564+9del
|
rs1554709342 |
NM_000155.4(GALT):c.564+1G>A
|
rs111033723 |
NM_000155.4(GALT):c.564+1G>T
|
rs111033723 |
NM_000155.4(GALT):c.565-2A>G
|
rs111033731 |
NM_000155.4(GALT):c.572C>T (p.Ala191Val)
|
rs794727838 |
NM_000155.4(GALT):c.598C>T (p.Gln200Ter)
|
rs1564101619 |
NM_000155.4(GALT):c.598del (p.Gln200fs)
|
rs111033738 |
NM_000155.4(GALT):c.602G>A (p.Arg201His)
|
rs111033735 |
NM_000155.4(GALT):c.607G>A (p.Glu203Lys)
|
rs111033736 |
NM_000155.4(GALT):c.610C>T (p.Arg204Ter)
|
rs111033737 |
NM_000155.4(GALT):c.617A>G (p.Gln206Arg)
|
rs1587239309 |
NM_000155.4(GALT):c.619C>T (p.Gln207Ter)
|
rs111033743 |
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys)
|
rs111033744 |
NM_000155.4(GALT):c.627T>A (p.Tyr209Ter)
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rs1057516720 |
NM_000155.4(GALT):c.634C>T (p.Gln212Ter)
|
rs111033746 |
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer)
|
rs111033742 |
NM_000155.4(GALT):c.670C>T (p.Gln224Ter)
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NM_000155.4(GALT):c.670del (p.Gln224fs)
|
rs1057516883 |
NM_000155.4(GALT):c.687+1G>T
|
rs193922250 |
NM_000155.4(GALT):c.688-1G>C
|
|
NM_000155.4(GALT):c.688-2A>C
|
rs398123185 |
NM_000155.4(GALT):c.691C>G (p.Arg231Gly)
|
|
NM_000155.4(GALT):c.691C>T (p.Arg231Cys)
|
rs111033749 |
NM_000155.4(GALT):c.737G>A (p.Trp246Ter)
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|
NM_000155.4(GALT):c.761dup (p.Leu255fs)
|
rs747036550 |
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)
|
rs368166217 |
NM_000155.4(GALT):c.775C>T (p.Arg259Trp)
|
rs786204763 |
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)
|
rs886042070 |
NM_000155.4(GALT):c.796G>T (p.Glu266Ter)
|
|
NM_000155.4(GALT):c.814C>T (p.Arg272Cys)
|
rs111033766 |
NM_000155.4(GALT):c.815G>A (p.Arg272His)
|
rs111033831 |
NM_000155.4(GALT):c.820+13A>G
|
rs111033768 |
NM_000155.4(GALT):c.83-2A>G
|
rs1057517415 |
NM_000155.4(GALT):c.853A>T (p.Lys285Ter)
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|
NM_000155.4(GALT):c.856_864del (p.Tyr286_Asn288del)
|
rs1587240095 |
NM_000155.4(GALT):c.888C>A (p.Tyr296Ter)
|
|
NM_000155.4(GALT):c.888C>G (p.Tyr296Ter)
|
rs1554709447 |
NM_000155.4(GALT):c.895G>A (p.Gly299Ser)
|
rs1587240180 |
NM_000155.4(GALT):c.912dup (p.Thr305fs)
|
rs746285782 |
NM_000155.4(GALT):c.938G>A (p.Trp313Ter)
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rs1410159094 |
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)
|
rs2070074 |
NM_000155.4(GALT):c.947G>A (p.Trp316Ter)
|
rs111033790 |
NM_000155.4(GALT):c.957C>A (p.His319Gln)
|
rs111033792 |
NM_000155.4(GALT):c.958G>A (p.Ala320Thr)
|
rs111033795 |
NM_000155.4(GALT):c.959C>T (p.Ala320Val)
|
rs367543272 |
NM_000155.4(GALT):c.974C>T (p.Pro325Leu)
|
rs111033794 |
NM_000155.4(GALT):c.979_986del (p.Leu327fs)
|
rs1554709502 |
NM_000155.4(GALT):c.982C>T (p.Arg328Cys)
|
rs144993986 |
NM_000155.4(GALT):c.983G>A (p.Arg328His)
|
rs111033802 |
NM_000155.4(GALT):c.98G>A (p.Arg33His)
|
rs111033829 |
NM_000155.4(GALT):c.997C>T (p.Arg333Trp)
|
rs111033800 |
NM_000155.4(GALT):c.998G>A (p.Arg333Gln)
|
rs111033808 |