NM_000143.4(FH):c.2T>G (p.Met1Arg)
|
rs201261794
|
0.00002
|
NM_000143.4(FH):c.151C>T (p.Arg51Trp)
|
rs778678782
|
0.00001
|
NM_000143.4(FH):c.1A>G (p.Met1Val)
|
rs776806414
|
0.00001
|
NM_000143.4(FH):c.405T>G (p.His135Gln)
|
rs1298815479
|
0.00001
|
NM_000143.4(FH):c.514A>G (p.Lys172Glu)
|
rs201154463
|
0.00001
|
NM_000143.4(FH):c.908T>C (p.Leu303Ser)
|
rs201502246
|
0.00001
|
NC_000001.11:g.(?_241508593)_(241513723_?)del
|
|
|
NM_000143.4(FH):c.1000A>C (p.Ser334Arg)
|
rs587782216
|
|
NM_000143.4(FH):c.1084G>A (p.Glu362Lys)
|
rs121913119
|
|
NM_000143.4(FH):c.1109-1G>C
|
rs1298313966
|
|
NM_000143.4(FH):c.1117A>G (p.Asn373Asp)
|
|
|
NM_000143.4(FH):c.1145T>C (p.Met382Thr)
|
rs2147914987
|
|
NM_000143.4(FH):c.1158A>C (p.Gln386His)
|
rs2147914951
|
|
NM_000143.4(FH):c.1178C>T (p.Ala393Val)
|
|
|
NM_000143.4(FH):c.1205A>T (p.His402Leu)
|
rs886039366
|
|
NM_000143.4(FH):c.1237-1G>C
|
|
|
NM_000143.4(FH):c.1237-1G>T
|
rs1573878149
|
|
NM_000143.4(FH):c.1255T>G (p.Ser419Ala)
|
|
|
NM_000143.4(FH):c.1256C>T (p.Ser419Leu)
|
rs1131691244
|
|
NM_000143.4(FH):c.1268T>G (p.Leu423Arg)
|
rs863224009
|
|
NM_000143.4(FH):c.1273G>A (p.Asp425Asn)
|
|
|
NM_000143.4(FH):c.1275T>A (p.Asp425Glu)
|
|
|
NM_000143.4(FH):c.1390+1G>T
|
rs886039367
|
|
NM_000143.4(FH):c.1424C>A (p.Ala475Glu)
|
rs863224012
|
|
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)
|
rs367543046
|
|
NM_000143.4(FH):c.1520T>A (p.Leu507Gln)
|
|
|
NM_000143.4(FH):c.152G>C (p.Arg51Pro)
|
rs976734433
|
|
NM_000143.4(FH):c.199T>G (p.Tyr67Asp)
|
rs1660243497
|
|
NM_000143.4(FH):c.1A>C (p.Met1Leu)
|
rs776806414
|
|
NM_000143.4(FH):c.1A>T (p.Met1Leu)
|
rs776806414
|
|
NM_000143.4(FH):c.214A>C (p.Thr72Pro)
|
rs886039362
|
|
NM_000143.4(FH):c.263T>A (p.Met88Lys)
|
rs763390436
|
|
NM_000143.4(FH):c.266_267+1delinsATT
|
|
|
NM_000143.4(FH):c.268-3_268-2del
|
rs2147923117
|
|
NM_000143.4(FH):c.2T>A (p.Met1Lys)
|
rs201261794
|
|
NM_000143.4(FH):c.2T>C (p.Met1Thr)
|
rs201261794
|
|
NM_000143.4(FH):c.378+1G>A
|
rs1660143675
|
|
NM_000143.4(FH):c.3G>A (p.Met1Ile)
|
rs564147469
|
|
NM_000143.4(FH):c.3G>C (p.Met1Ile)
|
rs564147469
|
|
NM_000143.4(FH):c.425A>G (p.Gln142Arg)
|
rs1573885503
|
|
NM_000143.4(FH):c.448A>G (p.Asn150Asp)
|
rs1660099527
|
|
NM_000143.4(FH):c.450T>A (p.Asn150Lys)
|
rs1131691242
|
|
NM_000143.4(FH):c.452T>A (p.Met151Lys)
|
rs1660099266
|
|
NM_000143.4(FH):c.462T>G (p.Asn154Lys)
|
rs2147921891
|
|
NM_000143.4(FH):c.479G>C (p.Arg160Thr)
|
|
|
NM_000143.4(FH):c.480A>T (p.Arg160Ser)
|
|
|
NM_000143.4(FH):c.521C>A (p.Pro174His)
|
rs199822819
|
|
NM_000143.4(FH):c.530C>G (p.Pro177Arg)
|
rs2147921795
|
|
NM_000143.4(FH):c.539A>G (p.His180Arg)
|
rs863224015
|
|
NM_000143.4(FH):c.539A>T (p.His180Leu)
|
rs863224015
|
|
NM_000143.4(FH):c.554A>C (p.Gln185Pro)
|
rs779707997
|
|
NM_000143.4(FH):c.556-2A>C
|
|
|
NM_000143.4(FH):c.556-2A>G
|
rs750273092
|
|
NM_000143.4(FH):c.556-2A>T
|
rs750273092
|
|
NM_000143.4(FH):c.556-9_556-2del
|
|
|
NM_000143.4(FH):c.563A>T (p.Asn188Ile)
|
rs2147919711
|
|
NM_000143.4(FH):c.566A>T (p.Asp189Val)
|
rs1064793125
|
|
NM_000143.4(FH):c.574C>G (p.Pro192Ala)
|
rs1573883345
|
|
NM_000143.4(FH):c.574C>T (p.Pro192Ser)
|
rs1573883345
|
|
NM_000143.4(FH):c.589A>T (p.Ile197Phe)
|
rs201764931
|
|
NM_000143.4(FH):c.690G>C (p.Lys230Asn)
|
rs2147919465
|
|
NM_000143.4(FH):c.697C>G (p.Arg233Gly)
|
rs587781682
|
|
NM_000143.4(FH):c.698G>C (p.Arg233Pro)
|
rs121913123
|
|
NM_000143.4(FH):c.700A>C (p.Thr234Pro)
|
rs372505976
|
|
NM_000143.4(FH):c.700A>T (p.Thr234Ser)
|
|
|
NM_000143.4(FH):c.701C>A (p.Thr234Asn)
|
|
|
NM_000143.4(FH):c.703C>A (p.His235Asn)
|
|
|
NM_000143.4(FH):c.703C>G (p.His235Asp)
|
rs863223968
|
|
NM_000143.4(FH):c.705T>G (p.His235Gln)
|
rs919993170
|
|
NM_000143.4(FH):c.712G>C (p.Asp238His)
|
|
|
NM_000143.4(FH):c.731T>G (p.Leu244Arg)
|
rs1060499636
|
|
NM_000143.4(FH):c.839G>A (p.Gly280Asp)
|
rs863223969
|
|
NM_000143.4(FH):c.844G>C (p.Gly282Arg)
|
rs1573881629
|
|
NM_000143.4(FH):c.845G>T (p.Gly282Val)
|
rs935002190
|
|
NM_000143.4(FH):c.893C>T (p.Ala298Val)
|
|
|
NM_000143.4(FH):c.904+1G>A
|
rs1553341148
|
|
NM_000143.4(FH):c.904+1G>T
|
rs1553341148
|
|
NM_000143.4(FH):c.915T>G (p.Phe305Leu)
|
rs2147916371
|
|
NM_000143.4(FH):c.923C>T (p.Ala308Val)
|
|
|
NM_000143.4(FH):c.934T>G (p.Phe312Val)
|
rs863224000
|
|
NM_000143.4(FH):c.935T>G (p.Phe312Cys)
|
rs1553341046
|
|
NM_000143.4(FH):c.944T>C (p.Leu315Pro)
|
rs1573880531
|
|
NM_000143.4(FH):c.947C>T (p.Ala316Val)
|
|
|
NM_000143.4(FH):c.967G>A (p.Glu323Lys)
|
rs2147916256
|
|
NM_000143.4(FH):c.977G>A (p.Gly326Glu)
|
rs1553341037
|
|
NM_000143.4(FH):c.988A>C (p.Thr330Pro)
|
rs776313200
|
|
NM_000143.4(FH):c.998G>A (p.Cys333Tyr)
|
rs1553341032
|
|