|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
|
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)
|
rs142572218
|
0.00088
|
|
NM_005373.3(MPL):c.305G>C (p.Arg102Pro)
|
rs28928907
|
0.00035
|
|
NM_012452.3(TNFRSF13B):c.311G>A (p.Cys104Tyr)
|
rs72553879
|
0.00016
|
|
NM_000250.2(MPO):c.604G>T (p.Glu202Ter)
|
rs778013714
|
0.00014
|
|
NM_030943.4(AMN):c.208-2A>G
|
rs386834170
|
0.00004
|
|
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter)
|
rs386834061
|
0.00002
|
|
NM_016222.4(DDX41):c.931C>T (p.Arg311Ter)
|
rs899399494
|
0.00001
|
|
GRCh38/hg38 16q24.3(chr16:89764796-89811592)x1
|
|
|
|
NM_000037.4(ANK1):c.4040_4041del (p.Met1347fs)
|
|
|
|
NM_000061.3(BTK):c.1925C>T (p.Pro642Leu)
|
|
|
|
NM_000061.3(BTK):c.894+1G>A
|
rs1064793859
|
|
|
NM_000135.4(FANCA):c.2T>A (p.Met1Lys)
|
rs769479800
|
|
|
NM_000135.4(FANCA):c.[2316+1_2316+3del];[2778+1G>A]
|
|
|
|
NM_000195.5(HPS1):c.1090dup (p.Leu364fs)
|
rs2136156603
|
|
|
NM_000195.5(HPS1):c.1189del (p.Gln397fs)
|
rs281865084
|
|
|
NM_000195.5(HPS1):c.972dup (p.Met325fs)
|
rs281865082
|
|
|
NM_000250.2(MPO):c.1711C>T (p.Arg571Ter)
|
|
|
|
NM_000250.2(MPO):c.[1281del];[518A>G]
|
|
|
|
NM_000250.2(MPO):c.[2031-2A>C];[752T>C]
|
|
|
|
NM_000377.3(WAS):c.464-11T>G
|
|
|
|
NM_000397.4(CYBB):c.1075G>A (p.Gly359Arg)
|
|
|
|
NM_000969.5(RPL5):c.236del (p.Tyr79fs)
|
|
|
|
NM_000975.5(RPL11):c.508-9_508-5del
|
|
|
|
NM_001018115.3(FANCD2):c.1948-16T>G
|
rs2087653225
|
|
|
NM_001022.4(RPS19):c.353A>G (p.Asp118Gly)
|
|
|
|
NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln)
|
rs1590753221
|
|
|
NM_001258392.3(CLPB):c.979G>T (p.Val327Leu)
|
|
|
|
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter)
|
rs397514332
|
|
|
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu)
|
rs137854450
|
|
|
NM_001972.4(ELANE):c.597+5G>A
|
rs879253882
|
|
|
NM_001972.4(ELANE):c.607G>C (p.Gly203Arg)
|
rs201139487
|
|
|
NM_001972.4(ELANE):c.640G>A (p.Gly214Arg)
|
rs137854451
|
|
|
NM_001972.4(ELANE):c.674C>G (p.Ser225Ter)
|
|
|
|
NM_005050.4(ABCD4):c.301del (p.Gln101fs)
|
|
|
|
NM_006118.4(HAX1):c.53+1G>A
|
|
|
|
NM_033022.4(RPS24):c.273del (p.Ala92fs)
|
|
|
|
NM_139027.6(ADAMTS13):c.1169G>A (p.Trp390Ter)
|
|
|
|
NM_152564.5(VPS13B):c.11044+1G>A
|
|
|
|
NM_152564.5(VPS13B):c.11141G>A (p.Trp3714Ter)
|
rs386834060
|
|
|
NM_152564.5(VPS13B):c.9330+1G>A
|
|
|