NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln)
|
rs2238472
|
0.22903
|
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly)
|
rs72653762
|
0.00459
|
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter)
|
rs72653706
|
0.00122
|
NM_001171.6(ABCC6):c.3940C>T (p.Arg1314Trp)
|
rs63750759
|
0.00069
|
NM_001171.6(ABCC6):c.1703T>C (p.Phe568Ser)
|
rs66864704
|
0.00036
|
NM_001171.6(ABCC6):c.1132C>T (p.Gln378Ter)
|
rs72650699
|
0.00019
|
NM_001171.6(ABCC6):c.2787+1G>T
|
rs72664209
|
0.00017
|
NM_001171.6(ABCC6):c.3490C>T (p.Arg1164Ter)
|
rs72653744
|
0.00012
|
NM_001171.6(ABCC6):c.1553G>A (p.Arg518Gln)
|
rs72653772
|
0.00011
|
NM_001171.6(ABCC6):c.3941G>A (p.Arg1314Gln)
|
rs63751086
|
0.00011
|
NM_001171.6(ABCC6):c.3341G>A (p.Arg1114His)
|
rs63750427
|
0.00009
|
NM_001171.6(ABCC6):c.4015C>T (p.Arg1339Cys)
|
rs28939702
|
0.00008
|
NM_001171.6(ABCC6):c.2278C>T (p.Arg760Trp)
|
rs72653788
|
0.00006
|
NM_001171.6(ABCC6):c.2294G>A (p.Arg765Gln)
|
rs67561842
|
0.00006
|
NM_001171.6(ABCC6):c.2542del (p.Met848fs)
|
rs67867306
|
0.00006
|
NM_001171.6(ABCC6):c.3389C>T (p.Thr1130Met)
|
rs63750459
|
0.00006
|
NM_001171.6(ABCC6):c.3413G>A (p.Arg1138Gln)
|
rs60791294
|
0.00006
|
NM_001171.6(ABCC6):c.3887G>A (p.Gly1296Asp)
|
rs374086268
|
0.00006
|
NM_001171.6(ABCC6):c.3775del (p.Trp1259fs)
|
rs72664233
|
0.00005
|
NM_001171.6(ABCC6):c.1552C>T (p.Arg518Ter)
|
rs72650700
|
0.00004
|
NM_001171.6(ABCC6):c.1798C>T (p.Arg600Cys)
|
rs72653777
|
0.00004
|
NM_001171.6(ABCC6):c.2252T>A (p.Met751Lys)
|
rs72653786
|
0.00004
|
NM_001171.6(ABCC6):c.3340C>T (p.Arg1114Cys)
|
rs63749794
|
0.00004
|
NM_001171.6(ABCC6):c.3412C>T (p.Arg1138Trp)
|
rs28939701
|
0.00004
|
NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp)
|
rs63750428
|
0.00004
|
NM_001171.6(ABCC6):c.4182del (p.Lys1394fs)
|
rs67791546
|
0.00004
|
NM_001171.6(ABCC6):c.1256G>A (p.Arg419Gln)
|
rs772434460
|
0.00003
|
NM_001171.6(ABCC6):c.2263G>A (p.Gly755Arg)
|
rs72653787
|
0.00003
|
NM_001171.6(ABCC6):c.2420G>A (p.Arg807Gln)
|
rs72653794
|
0.00003
|
NM_001171.6(ABCC6):c.3662G>A (p.Arg1221His)
|
rs63751001
|
0.00003
|
NM_001171.6(ABCC6):c.3703C>T (p.Arg1235Trp)
|
rs63750402
|
0.00003
|
NM_001171.6(ABCC6):c.3735G>T (p.Glu1245Asp)
|
rs281865557
|
0.00003
|
NM_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg)
|
rs63749856
|
0.00003
|
NM_001171.6(ABCC6):c.4016G>A (p.Arg1339His)
|
rs63750622
|
0.00003
|
NM_001171.6(ABCC6):c.4104del (p.Asp1368fs)
|
rs72664237
|
0.00003
|
NM_001171.6(ABCC6):c.1460G>A (p.Arg487Gln)
|
rs72653768
|
0.00002
|
NM_001171.6(ABCC6):c.2248-2_2248-1del
|
rs111113624
|
0.00002
|
NM_001171.6(ABCC6):c.2419C>T (p.Arg807Trp)
|
rs72653793
|
0.00002
|
NM_001171.6(ABCC6):c.2428G>A (p.Val810Met)
|
rs72653795
|
0.00002
|
NM_001171.6(ABCC6):c.3088C>T (p.Arg1030Ter)
|
rs72653705
|
0.00002
|
NM_001171.6(ABCC6):c.3188T>G (p.Leu1063Arg)
|
rs72657695
|
0.00002
|
NM_001171.6(ABCC6):c.3491G>A (p.Arg1164Gln)
|
rs63750457
|
0.00002
|
NM_001171.6(ABCC6):c.3661C>T (p.Arg1221Cys)
|
rs63751215
|
0.00002
|
NM_001171.6(ABCC6):c.3883-6G>A
|
rs72664214
|
0.00002
|
NM_001171.6(ABCC6):c.3902C>T (p.Thr1301Ile)
|
rs63750494
|
0.00002
|
NM_001171.6(ABCC6):c.3907G>C (p.Ala1303Pro)
|
rs63750410
|
0.00002
|
NM_001171.6(ABCC6):c.4192C>T (p.Arg1398Ter)
|
rs66913554
|
0.00002
|
NM_001171.6(ABCC6):c.951C>A (p.Ser317Arg)
|
rs78678589
|
0.00002
|
NM_001171.6(ABCC6):c.1199C>T (p.Ser400Phe)
|
rs747386965
|
0.00001
|
NM_001171.6(ABCC6):c.1255C>T (p.Arg419Trp)
|
rs775853778
|
0.00001
|
NM_001171.6(ABCC6):c.1484T>A (p.Leu495His)
|
rs72653769
|
0.00001
|
NM_001171.6(ABCC6):c.1799_1805dup (p.Thr603fs)
|
rs781369291
|
0.00001
|
NM_001171.6(ABCC6):c.2018T>C (p.Leu673Pro)
|
rs67470842
|
0.00001
|
NM_001171.6(ABCC6):c.2153A>G (p.Asp718Gly)
|
rs1357894483
|
0.00001
|
NM_001171.6(ABCC6):c.2258T>C (p.Leu753Pro)
|
rs1555512484
|
0.00001
|
NM_001171.6(ABCC6):c.2279G>A (p.Arg760Gln)
|
rs769405586
|
0.00001
|
NM_001171.6(ABCC6):c.2458G>C (p.Ala820Pro)
|
rs72653797
|
0.00001
|
NM_001171.6(ABCC6):c.2477T>C (p.Leu826Pro)
|
rs72653798
|
0.00001
|
NM_001171.6(ABCC6):c.2678C>G (p.Ser893Ter)
|
rs1481200467
|
0.00001
|
NM_001171.6(ABCC6):c.3381G>A (p.Met1127Ile)
|
rs63750758
|
0.00001
|
NM_001171.6(ABCC6):c.3507-1G>A
|
rs72664210
|
0.00001
|
NM_001171.6(ABCC6):c.37-1G>A
|
rs72657702
|
0.00001
|
NM_001171.6(ABCC6):c.3722G>A (p.Trp1241Ter)
|
rs72653748
|
0.00001
|
NM_001171.6(ABCC6):c.3736-1G>A
|
rs63750273
|
0.00001
|
NM_001171.6(ABCC6):c.3823C>T (p.Arg1275Ter)
|
rs72653749
|
0.00001
|
NM_001171.6(ABCC6):c.3895G>A (p.Gly1299Ser)
|
rs63750446
|
0.00001
|
NM_001171.6(ABCC6):c.3961G>A (p.Gly1321Ser)
|
rs63749823
|
0.00001
|
NM_001171.6(ABCC6):c.3971G>A (p.Trp1324Ter)
|
rs72653750
|
0.00001
|
NM_001171.6(ABCC6):c.4041G>A (p.Gln1347=)
|
rs63751111
|
0.00001
|
NM_001171.6(ABCC6):c.4198G>A (p.Glu1400Lys)
|
rs63751241
|
0.00001
|
NM_001171.6(ABCC6):c.4209C>A (p.Ser1403Arg)
|
rs63750700
|
0.00001
|
GRCh37/hg19 16p13.11(chr16:16247252-16258276)x1
|
|
|
GRCh37/hg19 16p13.11(chr16:16247252-16258394)x1
|
|
|
GRCh37/hg19 16p13.11(chr16:16247252-16262036)x1
|
|
|
GRCh37/hg19 16p13.11(chr16:16247470-16262036)x1
|
|
|
GRCh37/hg19 16p13.11(chr16:16247818-16262005)x1
|
|
|
GRCh37/hg19 16p13.11(chr16:16248154-16262036)x1
|
|
|
GRCh37/hg19 16p13.11(chr16:16248464-16259810)
|
|
|
GRCh37/hg19 16p13.11(chr16:16248485-16259790)x1
|
|
|
GRCh37/hg19 16p13.11(chr16:16248791-16260443)
|
|
|
GRCh37/hg19 16p13.11(chr16:16258393-16295900)x1
|
|
|
GRCh37/hg19 16p13.11(chr16:16259360-16302623)x1
|
|
|
NC_000016.9:g.(?_16243990)_(16292059_?)del
|
|
|
NC_000016.9:g.(?_16248465)_(16259810_?)del
|
|
|
NC_000016.9:g.(?_16259460)_(16292059_?)del
|
|
|
NC_000016.9:g.(?_16263483)_(16292059_?)del
|
|
|
NC_000016.9:g.(?_16291858)_(16292059_?)del
|
|
|
NG_007558.2:g.(60799_60814)_(77206_77221)del
|
|
|
NM_001171.5(ABCC6):c.1944_1965del22
|
|
|
NM_001171.5(ABCC6):c.2237_2238ins10 (p.?)
|
|
|
NM_001171.6(ABCC6):c.1087C>T (p.Gln363Ter)
|
rs72650698
|
|
NM_001171.6(ABCC6):c.1088_1120del (p.Gln363_Arg373del)
|
rs387906353
|
|
NM_001171.6(ABCC6):c.1091C>G (p.Thr364Arg)
|
rs72653759
|
|
NM_001171.6(ABCC6):c.1192A>G (p.Ser398Gly)
|
rs72653764
|
|
NM_001171.6(ABCC6):c.1277dup (p.Tyr426Ter)
|
|
|
NM_001171.6(ABCC6):c.1288del (p.Leu430fs)
|
|
|
NM_001171.6(ABCC6):c.1308G>A (p.Trp436Ter)
|
|
|
NM_001171.6(ABCC6):c.1334G>A (p.Trp445Ter)
|
|
|
NM_001171.6(ABCC6):c.1339-2A>G
|
rs2047911840
|
|
NM_001171.6(ABCC6):c.1355C>A (p.Ala452Asp)
|
|
|
NM_001171.6(ABCC6):c.1413del (p.Arg473fs)
|
rs1596687174
|
|
NM_001171.6(ABCC6):c.1505A>G (p.Lys502Arg)
|
rs72653771
|
|
NM_001171.6(ABCC6):c.1609del (p.Val537fs)
|
rs1596678798
|
|
NM_001171.6(ABCC6):c.1674del (p.Glu559fs)
|
rs1313008538
|
|
NM_001171.6(ABCC6):c.1675G>T (p.Glu559Ter)
|
rs114149656
|
|
NM_001171.6(ABCC6):c.1755del (p.Phe586fs)
|
|
|
NM_001171.6(ABCC6):c.1786del (p.Val596fs)
|
|
|
NM_001171.6(ABCC6):c.1791del (p.Phe598fs)
|
|
|
NM_001171.6(ABCC6):c.1799G>C (p.Arg600Pro)
|
rs761433545
|
|
NM_001171.6(ABCC6):c.1967_1989del (p.Gly656fs)
|
rs74315130
|
|
NM_001171.6(ABCC6):c.196dup (p.Ser66fs)
|
rs1064793538
|
|
NM_001171.6(ABCC6):c.1987G>A (p.Gly663Ser)
|
rs72653780
|
|
NM_001171.6(ABCC6):c.1987G>T (p.Gly663Cys)
|
rs72653780
|
|
NM_001171.6(ABCC6):c.1996G>T (p.Gly666Trp)
|
rs72653781
|
|
NM_001171.6(ABCC6):c.1999del (p.Ala667fs)
|
rs72664227
|
|
NM_001171.6(ABCC6):c.2035G>T (p.Glu679Ter)
|
|
|
NM_001171.6(ABCC6):c.2044_2045del (p.Lys682fs)
|
|
|
NM_001171.6(ABCC6):c.2068G>T (p.Glu690Ter)
|
|
|
NM_001171.6(ABCC6):c.2093A>C (p.Gln698Pro)
|
rs72653783
|
|
NM_001171.6(ABCC6):c.2125G>T (p.Glu709Ter)
|
rs114303883
|
|
NM_001171.6(ABCC6):c.2162G>A (p.Trp721Ter)
|
rs72650701
|
|
NM_001171.6(ABCC6):c.2293C>T (p.Arg765Trp)
|
rs776513864
|
|
NM_001171.6(ABCC6):c.2297C>A (p.Ala766Asp)
|
rs72653789
|
|
NM_001171.6(ABCC6):c.2304C>A (p.Tyr768Ter)
|
rs66492417
|
|
NM_001171.6(ABCC6):c.2329G>A (p.Asp777Asn)
|
rs72653790
|
|
NM_001171.6(ABCC6):c.2338del (p.Leu780fs)
|
rs1596649191
|
|
NM_001171.6(ABCC6):c.2359G>T (p.Val787Phe)
|
rs72653792
|
|
NM_001171.6(ABCC6):c.2365C>T (p.Gln789Ter)
|
|
|
NM_001171.6(ABCC6):c.2407del (p.Gln803fs)
|
rs2152252393
|
|
NM_001171.6(ABCC6):c.2432C>G (p.Thr811Arg)
|
rs72653796
|
|
NM_001171.6(ABCC6):c.2432C>T (p.Thr811Met)
|
rs72653796
|
|
NM_001171.6(ABCC6):c.2464_2465del (p.Trp822fs)
|
|
|
NM_001171.6(ABCC6):c.2536dup (p.Ala846fs)
|
rs2152249910
|
|
NM_001171.6(ABCC6):c.2698dup (p.Thr900fs)
|
rs2152243320
|
|
NM_001171.6(ABCC6):c.2738_2739del (p.Pro913fs)
|
|
|
NM_001171.6(ABCC6):c.2781C>A (p.Tyr927Ter)
|
rs61731973
|
|
NM_001171.6(ABCC6):c.2781C>G (p.Tyr927Ter)
|
|
|
NM_001171.6(ABCC6):c.2784_2787del (p.Gly928_Arg929insTer)
|
rs765405352
|
|
NM_001171.6(ABCC6):c.2814C>A (p.Tyr938Ter)
|
rs72653704
|
|
NM_001171.6(ABCC6):c.2889C>A (p.Cys963Ter)
|
rs2152235635
|
|
NM_001171.6(ABCC6):c.2900G>A (p.Trp967Ter)
|
rs2046997344
|
|
NM_001171.6(ABCC6):c.2974G>A (p.Gly992Arg)
|
rs72657692
|
|
NM_001171.6(ABCC6):c.2974G>C (p.Gly992Arg)
|
rs72657692
|
|
NM_001171.6(ABCC6):c.3077G>A (p.Trp1026Ter)
|
|
|
NM_001171.6(ABCC6):c.3256_3257dup (p.Ala1087fs)
|
|
|
NM_001171.6(ABCC6):c.3294C>A (p.Tyr1098Ter)
|
rs371889155
|
|
NM_001171.6(ABCC6):c.3304C>T (p.Gln1102Ter)
|
|
|
NM_001171.6(ABCC6):c.3306+1del
|
rs797045078
|
|
NM_001171.6(ABCC6):c.3315T>G (p.Tyr1105Ter)
|
rs1268592638
|
|
NM_001171.6(ABCC6):c.3335dup (p.Arg1113fs)
|
|
|
NM_001171.6(ABCC6):c.3341G>C (p.Arg1114Pro)
|
rs63750427
|
|
NM_001171.6(ABCC6):c.3362C>T (p.Ser1121Leu)
|
rs63750987
|
|
NM_001171.6(ABCC6):c.3413G>C (p.Arg1138Pro)
|
rs60791294
|
|
NM_001171.6(ABCC6):c.3427del (p.Gln1143fs)
|
|
|
NM_001171.6(ABCC6):c.3497del (p.Val1166fs)
|
rs2152224246
|
|
NM_001171.6(ABCC6):c.3506+1G>A
|
|
|
NM_001171.6(ABCC6):c.3506+2_3506+5del
|
rs72664211
|
|
NM_001171.6(ABCC6):c.3507-2A>G
|
|
|
NM_001171.6(ABCC6):c.3510G>A (p.Trp1170Ter)
|
|
|
NM_001171.6(ABCC6):c.3614_3615del (p.Ser1205fs)
|
rs745900279
|
|
NM_001171.6(ABCC6):c.3634-1G>T
|
rs2152218824
|
|
NM_001171.6(ABCC6):c.3668G>A (p.Trp1223Ter)
|
rs72653745
|
|
NM_001171.6(ABCC6):c.3712G>C (p.Asp1238His)
|
rs63749796
|
|
NM_001171.6(ABCC6):c.3774dup (p.Trp1259fs)
|
rs72664220
|
|
NM_001171.6(ABCC6):c.3775_3776insC (p.Trp1259fs)
|
rs1555507927
|
|
NM_001171.6(ABCC6):c.3835_3838del (p.Pro1279fs)
|
|
|
NM_001171.6(ABCC6):c.3892G>T (p.Val1298Phe)
|
rs63751325
|
|
NM_001171.6(ABCC6):c.3913_3931dup (p.Gly1311fs)
|
|
|
NM_001171.6(ABCC6):c.3987dup (p.Ile1330fs)
|
rs1567465730
|
|
NM_001171.6(ABCC6):c.4004T>A (p.Leu1335Gln)
|
rs63750414
|
|
NM_001171.6(ABCC6):c.4004T>C (p.Leu1335Pro)
|
rs63750414
|
|
NM_001171.6(ABCC6):c.4041G>C (p.Gln1347His)
|
rs63751111
|
|
NM_001171.6(ABCC6):c.4060G>C (p.Gly1354Arg)
|
rs63750018
|
|
NM_001171.6(ABCC6):c.4063_4080del (p.Ser1355_Leu1360del)
|
rs2152211980
|
|
NM_001171.6(ABCC6):c.4093del (p.Glu1365fs)
|
|
|
NM_001171.6(ABCC6):c.4209-2A>C
|
rs1555506740
|
|
NM_001171.6(ABCC6):c.4213G>A (p.Gly1405Ser)
|
rs947230593
|
|
NM_001171.6(ABCC6):c.4216C>A (p.Gln1406Lys)
|
rs387906859
|
|
NM_001171.6(ABCC6):c.4243_4244insAGAA (p.Ala1415fs)
|
rs387906352
|
|
NM_001171.6(ABCC6):c.450dup (p.Ala151fs)
|
rs387906860
|
|
NM_001171.6(ABCC6):c.654G>T (p.Trp218Cys)
|
rs72653754
|
|
NM_001171.6(ABCC6):c.951C>G (p.Ser317Arg)
|
rs78678589
|
|
NM_001171.6(ABCC6):c.982_988delinsTTCCCC (p.Val328fs)
|
|
|
NM_001171.6(ABCC6):c.998+2_998+3del
|
rs72664204
|
|