NM_000187.4(HGD):c.260A>C (p.Glu87Ala)
|
rs35702995
|
0.00416
|
NM_000187.4(HGD):c.1112A>G (p.His371Arg)
|
rs120074172
|
0.00012
|
NM_000187.4(HGD):c.125A>C (p.Glu42Ala)
|
rs373921680
|
0.00007
|
NM_000187.4(HGD):c.158G>A (p.Arg53Gln)
|
rs200808744
|
0.00006
|
NM_000187.4(HGD):c.365C>T (p.Ala122Val)
|
rs544956641
|
0.00006
|
NM_000187.4(HGD):c.808G>A (p.Gly270Arg)
|
rs120074174
|
0.00006
|
NM_000187.4(HGD):c.347T>C (p.Leu116Pro)
|
rs569846003
|
0.00004
|
NM_000187.4(HGD):c.1336T>C (p.Ter446Arg)
|
rs143370662
|
0.00002
|
NM_000187.4(HGD):c.342+1G>T
|
rs397515518
|
0.00002
|
NM_000187.4(HGD):c.367G>A (p.Gly123Arg)
|
rs564979861
|
0.00002
|
NM_000187.4(HGD):c.11T>A (p.Leu4Ter)
|
rs786204422
|
0.00001
|
NM_000187.4(HGD):c.157C>T (p.Arg53Trp)
|
rs759435977
|
0.00001
|
NM_000187.4(HGD):c.16-2063A>C
|
rs1168687230
|
0.00001
|
NM_000187.4(HGD):c.291G>A (p.Trp97Ter)
|
rs766714128
|
0.00001
|
NM_000187.4(HGD):c.343G>C (p.Gly115Arg)
|
rs755734596
|
0.00001
|
NM_000187.4(HGD):c.473C>T (p.Pro158Leu)
|
rs375396766
|
0.00001
|
NM_000187.4(HGD):c.536T>G (p.Ile179Ser)
|
rs1031569954
|
0.00001
|
NM_000187.4(HGD):c.587C>T (p.Thr196Ile)
|
rs781491692
|
0.00001
|
NM_000187.4(HGD):c.673C>T (p.Arg225Cys)
|
rs756789146
|
0.00001
|
NM_000187.4(HGD):c.674G>A (p.Arg225His)
|
rs562853291
|
0.00001
|
NM_000187.4(HGD):c.821C>T (p.Pro274Leu)
|
rs1397264922
|
0.00001
|
NM_000187.4(HGD):c.1064dup (p.Gly356fs)
|
rs1057516847
|
|
NM_000187.4(HGD):c.1076C>T (p.Pro359Leu)
|
|
|
NM_000187.4(HGD):c.1084G>A (p.Gly362Arg)
|
rs2107489383
|
|
NM_000187.4(HGD):c.1114G>A (p.Gly372Arg)
|
rs1940645842
|
|
NM_000187.4(HGD):c.1188+1G>T
|
rs760206323
|
|
NM_000187.4(HGD):c.1201G>C (p.Glu401Gln)
|
rs767159114
|
|
NM_000187.4(HGD):c.127C>G (p.Gln43Glu)
|
rs1243059404
|
|
NM_000187.4(HGD):c.1290_1300del (p.Lys431fs)
|
rs1553715351
|
|
NM_000187.4(HGD):c.131T>C (p.Leu44Pro)
|
rs1708095030
|
|
NM_000187.4(HGD):c.148_149del (p.Thr50fs)
|
|
|
NM_000187.4(HGD):c.15+1G>A
|
rs552207335
|
|
NM_000187.4(HGD):c.170del (p.Lys57fs)
|
|
|
NM_000187.4(HGD):c.177-1G>A
|
rs1057517370
|
|
NM_000187.4(HGD):c.177-1G>T
|
|
|
NM_000187.4(HGD):c.179G>A (p.Trp60Ter)
|
rs1057516467
|
|
NM_000187.4(HGD):c.186T>A (p.Tyr62Ter)
|
|
|
NM_000187.4(HGD):c.283-1G>A
|
rs2107522179
|
|
NM_000187.4(HGD):c.302_303insTG (p.Glu101fs)
|
|
|
NM_000187.4(HGD):c.31_32delinsATT (p.Gly11fs)
|
rs1057516362
|
|
NM_000187.4(HGD):c.339_342+2del
|
rs1057516662
|
|
NM_000187.4(HGD):c.342+1G>A
|
rs397515518
|
|
NM_000187.4(HGD):c.346del (p.Leu116fs)
|
rs1057516911
|
|
NM_000187.4(HGD):c.368G>A (p.Gly123Glu)
|
rs374473331
|
|
NM_000187.4(HGD):c.376_377del (p.Lys126fs)
|
rs1057516976
|
|
NM_000187.4(HGD):c.390del (p.Ala132fs)
|
rs1057516352
|
|
NM_000187.4(HGD):c.3G>C (p.Met1Ile)
|
rs1057516355
|
|
NM_000187.4(HGD):c.409del (p.Leu137fs)
|
rs1057516921
|
|
NM_000187.4(HGD):c.413G>A (p.Cys138Tyr)
|
rs1941316527
|
|
NM_000187.4(HGD):c.435-1G>C
|
|
|
NM_000187.4(HGD):c.482G>A (p.Gly161Glu)
|
|
|
NM_000187.4(HGD):c.566G>T (p.Ser189Ile)
|
rs2107510544
|
|
NM_000187.4(HGD):c.58del (p.Arg20fs)
|
rs1057516849
|
|
NM_000187.4(HGD):c.626_635del (p.Glu209fs)
|
|
|
NM_000187.4(HGD):c.649+2T>C
|
rs1057516307
|
|
NM_000187.4(HGD):c.652del
|
rs786204662
|
|
NM_000187.4(HGD):c.662T>A (p.Leu221Ter)
|
|
|
NM_000187.4(HGD):c.665C>A (p.Ala222Asp)
|
rs1576294110
|
|
NM_000187.4(HGD):c.674G>C (p.Arg225Pro)
|
|
|
NM_000187.4(HGD):c.747C>A (p.Tyr249Ter)
|
|
|
NM_000187.4(HGD):c.748del (p.Gln250fs)
|
|
|
NM_000187.4(HGD):c.753C>T (p.Gly251=)
|
rs1357020990
|
|
NM_000187.4(HGD):c.774+711_879+1293del
|
|
|
NM_000187.4(HGD):c.775-1G>A
|
rs2107502859
|
|
NM_000187.4(HGD):c.781dup (p.Ser261fs)
|
rs1057517418
|
|
NM_000187.4(HGD):c.820C>A (p.Pro274Thr)
|
|
|
NM_000187.4(HGD):c.824del (p.Tyr275fs)
|
|
|
NM_000187.4(HGD):c.832A>G (p.Asn278Asp)
|
|
|
NM_000187.4(HGD):c.87+1G>A
|
|
|
NM_000187.4(HGD):c.879+1G>A
|
rs1553716979
|
|
NM_000187.4(HGD):c.880-2A>G
|
|
|
NM_000187.4(HGD):c.898G>C (p.Val300Leu)
|
|
|
NM_000187.4(HGD):c.899T>G (p.Val300Gly)
|
rs120074170
|
|
NM_000187.4(HGD):c.956del (p.Pro319fs)
|
rs1057517089
|
|
NM_000187.4(HGD):c.970dup (p.Val324fs)
|
rs34214309
|
|