NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys)
|
rs121918221
|
0.00024
|
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp)
|
rs121918222
|
0.00018
|
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter)
|
rs121918226
|
0.00013
|
NM_006363.6(SEC23B):c.835-2A>G
|
rs371646735
|
0.00008
|
NM_006363.6(SEC23B):c.2101C>T (p.Arg701Cys)
|
rs201270568
|
0.00005
|
NM_006363.6(SEC23B):c.1489C>T (p.Arg497Cys)
|
rs727504145
|
0.00004
|
NM_006363.6(SEC23B):c.53G>A (p.Arg18His)
|
rs905074313
|
0.00004
|
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter)
|
rs121918225
|
0.00004
|
NM_006363.6(SEC23B):c.1648C>T (p.Arg550Ter)
|
rs199939108
|
0.00003
|
NM_006363.6(SEC23B):c.367C>T (p.Arg123Ter)
|
rs775380378
|
0.00003
|
NM_006363.6(SEC23B):c.689+1G>A
|
rs398124226
|
0.00003
|
NM_006363.6(SEC23B):c.1603C>T (p.Arg535Ter)
|
rs201921350
|
0.00002
|
NM_006363.6(SEC23B):c.790C>T (p.Arg264Ter)
|
rs121918224
|
0.00002
|
NM_006363.6(SEC23B):c.1015C>T (p.Arg339Ter)
|
rs368960604
|
0.00001
|
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys)
|
rs780978419
|
0.00001
|
NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter)
|
rs1568617456
|
0.00001
|
NM_006363.6(SEC23B):c.1571C>T (p.Ala524Val)
|
rs398124225
|
0.00001
|
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp)
|
rs121918223
|
0.00001
|
NM_006363.6(SEC23B):c.1660C>T (p.Arg554Ter)
|
rs778016282
|
0.00001
|
NM_006363.6(SEC23B):c.1989dup (p.Glu664Ter)
|
rs762302707
|
0.00001
|
NM_006363.6(SEC23B):c.2150del (p.Ala717fs)
|
rs1334741748
|
0.00001
|
NM_006363.6(SEC23B):c.2152C>T (p.Arg718Ter)
|
rs751349881
|
0.00001
|
NM_006363.6(SEC23B):c.249G>A (p.Trp83Ter)
|
rs1413836890
|
0.00001
|
NC_000020.10:g.(?_17603729)_(18541384_?)del
|
|
|
NC_000020.10:g.(?_18491480)_(18496400_?)del
|
|
|
NC_000020.10:g.(?_18491480)_(18505684_?)del
|
|
|
NC_000020.10:g.(?_18491480)_(18535837_?)del
|
|
|
NC_000020.10:g.(?_18522920)_(18523066_?)del
|
|
|
NC_000020.11:g.(?_18512225)_(18515736_?)del
|
|
|
NC_000020.11:g.18512225_18512228del
|
|
|
NM_006363.6(SEC23B):c.1079del (p.Leu360fs)
|
rs1600244935
|
|
NM_006363.6(SEC23B):c.1129_1130del (p.Asp377fs)
|
rs2517482273
|
|
NM_006363.6(SEC23B):c.1201C>T (p.Arg401Ter)
|
rs1403456625
|
|
NM_006363.6(SEC23B):c.1243del (p.Glu415fs)
|
rs2517485589
|
|
NM_006363.6(SEC23B):c.1326_1327del (p.Gly443fs)
|
|
|
NM_006363.6(SEC23B):c.1389_1390del (p.Phe463fs)
|
|
|
NM_006363.6(SEC23B):c.1402C>T (p.Gln468Ter)
|
rs2517489991
|
|
NM_006363.6(SEC23B):c.1515_1536dup (p.Arg513fs)
|
|
|
NM_006363.6(SEC23B):c.1660del (p.Arg554fs)
|
rs781770571
|
|
NM_006363.6(SEC23B):c.1710dup (p.Arg571Ter)
|
rs771869140
|
|
NM_006363.6(SEC23B):c.1733T>C (p.Leu578Pro)
|
|
|
NM_006363.6(SEC23B):c.1741C>T (p.Gln581Ter)
|
rs2517508341
|
|
NM_006363.6(SEC23B):c.1831del (p.Arg611fs)
|
rs2517513022
|
|
NM_006363.6(SEC23B):c.1887del (p.His631fs)
|
rs1216879587
|
|
NM_006363.6(SEC23B):c.1909del (p.Val637fs)
|
rs1349052942
|
|
NM_006363.6(SEC23B):c.2074_2077dup (p.Asp693delinsGlyTer)
|
|
|
NM_006363.6(SEC23B):c.2190_2191dup (p.Asn731fs)
|
rs2517523586
|
|
NM_006363.6(SEC23B):c.2202T>A (p.Tyr734Ter)
|
rs1600281886
|
|
NM_006363.6(SEC23B):c.2212C>T (p.Gln738Ter)
|
rs2517523659
|
|
NM_006363.6(SEC23B):c.235C>T (p.Arg79Ter)
|
rs150263014
|
|
NM_006363.6(SEC23B):c.279+2T>C
|
|
|
NM_006363.6(SEC23B):c.337del (p.Gln113fs)
|
rs2517457737
|
|
NM_006363.6(SEC23B):c.394_397del (p.Leu132fs)
|
|
|
NM_006363.6(SEC23B):c.490del (p.Val164fs)
|
rs776983439
|
|
NM_006363.6(SEC23B):c.545del (p.Gly182fs)
|
rs2517470846
|
|
NM_006363.6(SEC23B):c.568C>T (p.Arg190Ter)
|
rs541860697
|
|
NM_006363.6(SEC23B):c.576_583delinsA (p.Thr192_Lys193insTer)
|
rs1555788144
|
|
NM_006363.6(SEC23B):c.584dup (p.Leu195fs)
|
rs1568605364
|
|
NM_006363.6(SEC23B):c.592A>T (p.Lys198Ter)
|
rs2517471083
|
|
NM_006363.6(SEC23B):c.640C>T (p.Gln214Ter)
|
rs201418257
|
|
NM_006363.6(SEC23B):c.689+1G>C
|
rs398124226
|
|
NM_006363.6(SEC23B):c.689+1G>T
|
rs398124226
|
|
NM_006363.6(SEC23B):c.762G>A (p.Trp254Ter)
|
rs2517473808
|
|
NM_006363.6(SEC23B):c.816del (p.Ile272fs)
|
rs1568606490
|
|
NM_006363.6(SEC23B):c.873del (p.Phe291fs)
|
rs2517475167
|
|
NM_006363.6(SEC23B):c.938G>A (p.Arg313His)
|
rs750888081
|
|
NM_006363.6(SEC23B):c.953T>C (p.Ile318Thr)
|
rs953079477
|
|
NM_006363.6(SEC23B):c.983dup (p.Ala329fs)
|
rs2517475620
|
|