NM_194454.3(KRIT1):c.850C>T (p.Arg284Ter)
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rs374662170
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0.00001
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GRCh37/hg19 7q21.2(chr7:91830050-91830737)x1
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NC_000007.13:g.(?_91851196)_(91852312_?)del
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NC_000007.13:g.(?_91864697)_(91867093_?)dup
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NM_194454.3(KRIT1):c.1114C>T (p.Gln372Ter)
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rs780114710
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NM_194454.3(KRIT1):c.1146+1G>C
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rs886039401
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NM_194454.3(KRIT1):c.1146+3_1146+4del
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rs1554518369
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NM_194454.3(KRIT1):c.1146+4_1146+8del
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rs2131525308
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NM_194454.3(KRIT1):c.1237del (p.Glu413fs)
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rs1563275284
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NM_194454.3(KRIT1):c.1263_1267delinsTGTA (p.Lys421fs)
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rs1563266994
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NM_194454.3(KRIT1):c.1355_1359del (p.Arg452fs)
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rs1563266256
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NM_194454.3(KRIT1):c.1358dup (p.Ser454fs)
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rs1563266277
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NM_194454.3(KRIT1):c.1372C>T (p.Gln458Ter)
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rs1563266163
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NM_194454.3(KRIT1):c.1400C>T (p.Ser467Leu)
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rs1554513911
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NM_194454.3(KRIT1):c.1406dup (p.Asn469fs)
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rs1563265838
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NM_194454.3(KRIT1):c.141_145del (p.Arg49fs)
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rs770594592
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NM_194454.3(KRIT1):c.1421_1422dup (p.Lys475fs)
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rs1563264033
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NM_194454.3(KRIT1):c.146_147del (p.Arg49fs)
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rs1057518665
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NM_194454.3(KRIT1):c.1470dup (p.Leu491fs)
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rs1563263604
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NM_194454.3(KRIT1):c.1474dup (p.Ala492fs)
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rs1554512816
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NM_194454.3(KRIT1):c.1477G>T (p.Glu493Ter)
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rs1563263545
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NM_194454.3(KRIT1):c.1524_1528del (p.Arg510fs)
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rs1057517754
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NM_194454.3(KRIT1):c.1561C>T (p.Gln521Ter)
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rs2131435199
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NM_194454.3(KRIT1):c.1564-2A>T
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NM_194454.3(KRIT1):c.1574del (p.Pro525fs)
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rs1584807148
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NM_194454.3(KRIT1):c.1579G>A (p.Ala527Thr)
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rs374303823
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NM_194454.3(KRIT1):c.1606A>T (p.Arg536Ter)
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NM_194454.3(KRIT1):c.1616T>A (p.Leu539Ter)
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rs1563245596
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NM_194454.3(KRIT1):c.1666del (p.Ser556fs)
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rs1563245191
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NM_194454.3(KRIT1):c.1721_1730+5del
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NM_194454.3(KRIT1):c.1730+3A>C
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rs1563244629
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NM_194454.3(KRIT1):c.1731-3C>A
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rs1563243075
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NM_194454.3(KRIT1):c.1739del (p.Asn580fs)
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rs1563243016
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NM_194454.3(KRIT1):c.1754dup (p.Pro586fs)
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rs1563242899
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NM_194454.3(KRIT1):c.1818+1G>A
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rs2131315805
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NM_194454.3(KRIT1):c.1897_1903del (p.Pro633fs)
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rs1563240821
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NM_194454.3(KRIT1):c.1927C>T (p.Gln643Ter)
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rs1563240592
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NM_194454.3(KRIT1):c.1959_1960insC (p.Lys654fs)
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rs2131307878
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NM_194454.3(KRIT1):c.1959_1962dup (p.Val655Ter)
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NM_194454.3(KRIT1):c.1A>G (p.Met1Val)
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rs1554539120
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NM_194454.3(KRIT1):c.2025+2T>C
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rs1563239833
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NM_194454.3(KRIT1):c.2043del (p.Lys682fs)
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rs1563212150
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NM_194454.3(KRIT1):c.2083dup (p.Thr695fs)
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rs1563211839
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NM_194454.3(KRIT1):c.2134del (p.Thr712fs)
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rs2131087593
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NM_194454.3(KRIT1):c.2139del (p.Lys713fs)
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rs1563211361
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NM_194454.3(KRIT1):c.2140C>T (p.Gln714Ter)
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NM_194454.3(KRIT1):c.2142+1G>C
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rs1790081665
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NM_194454.3(KRIT1):c.2142+2dup
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NM_194454.3(KRIT1):c.2143-1G>C
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rs1554489785
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NM_194454.3(KRIT1):c.249_250dup (p.Gln84fs)
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rs1563321624
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NM_194454.3(KRIT1):c.301G>A (p.Gly101Arg)
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rs1057521140
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NM_194454.3(KRIT1):c.363_369del (p.Lys122fs)
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rs1563309967
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NM_194454.3(KRIT1):c.410A>G (p.Asp137Gly)
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rs137853139
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NM_194454.3(KRIT1):c.486-1G>T
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NM_194454.3(KRIT1):c.488G>A (p.Trp163Ter)
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rs1563307254
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NM_194454.3(KRIT1):c.489G>A (p.Trp163Ter)
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rs1563307239
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NM_194454.3(KRIT1):c.587del (p.Ala196fs)
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rs1563306485
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NM_194454.3(KRIT1):c.674del (p.Ala225fs)
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rs1563305648
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NM_194454.3(KRIT1):c.707C>G (p.Ser236Ter)
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rs1563305269
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NM_194454.3(KRIT1):c.715C>T (p.Gln239Ter)
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rs886043300
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NM_194454.3(KRIT1):c.729+1G>A
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rs1563305064
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NM_194454.3(KRIT1):c.729+5G>C
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rs1468613071
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NM_194454.3(KRIT1):c.730-1G>C
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rs1554527922
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NM_194454.3(KRIT1):c.730G>T (p.Val244Leu)
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rs1554527919
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NM_194454.3(KRIT1):c.790_794del (p.Gln264fs)
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rs1563303222
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NM_194454.3(KRIT1):c.802C>T (p.Gln268Ter)
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rs886039659
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NM_194454.3(KRIT1):c.813G>A (p.Trp271Ter)
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NM_194454.3(KRIT1):c.845+2T>A
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rs1563302930
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NM_194454.3(KRIT1):c.896del (p.Gly299fs)
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rs1563301954
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NM_194454.3(KRIT1):c.947_948insAC (p.Leu317fs)
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rs1563301527
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NM_194454.3(KRIT1):c.972del (p.Ile325fs)
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rs1563301305
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NM_194454.3(KRIT1):c.981T>G (p.Tyr327Ter)
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NM_194454.3(KRIT1):c.990-1G>A
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rs1554518790
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Single allele
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