NM_000751.3(CHRND):c.821-2A>C
|
rs762875734
|
0.00014
|
NM_001360.3(DHCR7):c.1349G>A (p.Arg450His)
|
rs542266962
|
0.00010
|
NM_012414.4(RAB3GAP2):c.713-2A>G
|
rs797045103
|
0.00007
|
NM_000193.4(SHH):c.676G>A (p.Ala226Thr)
|
rs104894043
|
0.00006
|
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala)
|
rs200334114
|
0.00006
|
NM_001360.3(DHCR7):c.92G>A (p.Arg31His)
|
rs370307688
|
0.00006
|
NM_014141.6(CNTNAP2):c.3716-2A>G
|
rs746894028
|
0.00006
|
NM_003244.4(TGIF1):c.83C>G (p.Ser28Cys)
|
rs121909066
|
0.00005
|
NM_000751.3(CHRND):c.1252+1G>A
|
rs1285705072
|
0.00004
|
NM_001330078.2(NRXN1):c.772+1032G>A
|
rs771759988
|
0.00004
|
NM_176787.5(PIGN):c.2354G>A (p.Arg785His)
|
rs535563062
|
0.00004
|
NM_198525.3(KIF7):c.1443+2T>C
|
rs751900799
|
0.00004
|
NM_198525.3(KIF7):c.328+2T>G
|
rs781752990
|
0.00004
|
NM_001360.3(DHCR7):c.1336C>T (p.Arg446Trp)
|
rs145043679
|
0.00003
|
NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys)
|
rs565893436
|
0.00003
|
NM_152564.5(VPS13B):c.7248-1G>A
|
rs763079458
|
0.00003
|
NM_000751.3(CHRND):c.127C>T (p.Arg43Trp)
|
rs55868108
|
0.00002
|
NM_001367561.1(DOCK7):c.4380-1G>T
|
rs774949595
|
0.00002
|
NM_015937.6(PIGT):c.188-2A>G
|
rs771691280
|
0.00002
|
NM_000079.4(CHRNA1):c.779-1_779insA
|
rs771260711
|
0.00001
|
NM_000751.3(CHRND):c.243+1G>A
|
rs751237539
|
0.00001
|
NM_001101.5(ACTB):c.478A>G (p.Thr160Ala)
|
rs1784814961
|
0.00001
|
NM_001291415.2(KDM6A):c.3366-1G>A
|
rs1374292312
|
0.00001
|
NM_001330078.2(NRXN1):c.772+1133T>C
|
rs1476850082
|
0.00001
|
NM_001330078.2(NRXN1):c.832+1G>A
|
rs764621123
|
0.00001
|
NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys)
|
rs371302153
|
0.00001
|
NM_001360.3(DHCR7):c.1085G>A (p.Arg362His)
|
rs142213147
|
0.00001
|
NM_001360.3(DHCR7):c.1146C>A (p.Tyr382Ter)
|
rs1555145605
|
0.00001
|
NM_001360.3(DHCR7):c.1221C>A (p.Asn407Lys)
|
rs1481450955
|
0.00001
|
NM_001360.3(DHCR7):c.1277A>C (p.His426Pro)
|
rs1354718634
|
0.00001
|
NM_001360.3(DHCR7):c.1328G>T (p.Arg443Leu)
|
rs781687341
|
0.00001
|
NM_001360.3(DHCR7):c.1409T>A (p.Leu470Gln)
|
rs1331331095
|
0.00001
|
NM_001360.3(DHCR7):c.1424T>C (p.Phe475Ser)
|
rs1478872904
|
0.00001
|
NM_001360.3(DHCR7):c.412+3A>T
|
rs786200926
|
0.00001
|
NM_001360.3(DHCR7):c.413-2A>G
|
rs775575609
|
0.00001
|
NM_001360.3(DHCR7):c.627-1G>A
|
rs1057517210
|
0.00001
|
NM_001360.3(DHCR7):c.727C>T (p.Pro243Ser)
|
rs1329227520
|
0.00001
|
NM_001360.3(DHCR7):c.831+2T>A
|
rs1057516920
|
0.00001
|
NM_001367561.1(DOCK7):c.819-1G>A
|
rs763358033
|
0.00001
|
NM_014846.4(WASHC5):c.2505-1G>C
|
rs953586472
|
0.00001
|
NM_015937.6(PIGT):c.550G>A (p.Glu184Lys)
|
rs774753616
|
0.00001
|
NM_022552.5(DNMT3A):c.2478+1G>A
|
rs762213449
|
0.00001
|
NM_058179.4(PSAT1):c.976G>T (p.Glu326Ter)
|
rs199998249
|
0.00001
|
NM_080632.3(UPF3B):c.846+1G>A
|
rs373920032
|
0.00001
|
NM_138425.4(C12orf57):c.52+1G>T
|
rs782640048
|
0.00001
|
NM_138425.4(C12orf57):c.53-1G>A
|
rs374836404
|
0.00001
|
NM_152564.5(VPS13B):c.10061+1G>A
|
rs1200459145
|
0.00001
|
NM_152564.5(VPS13B):c.10867+1G>A
|
rs780902262
|
0.00001
|
NM_152564.5(VPS13B):c.147+1G>A
|
rs1057517029
|
0.00001
|
NM_152564.5(VPS13B):c.2824+2T>C
|
rs141703746
|
0.00001
|
NM_152564.5(VPS13B):c.3082+2T>C
|
rs1188811827
|
0.00001
|
NM_152564.5(VPS13B):c.3083-2A>C
|
rs1456528242
|
0.00001
|
NM_152564.5(VPS13B):c.4746-1G>C
|
rs768342041
|
0.00001
|
NM_152564.5(VPS13B):c.4949+2T>C
|
rs761273297
|
0.00001
|
NM_152564.5(VPS13B):c.7051-1G>A
|
rs930144563
|
0.00001
|
NM_152564.5(VPS13B):c.8097+1G>A
|
rs1813590716
|
0.00001
|
NM_152564.5(VPS13B):c.8792+1G>T
|
rs1415714103
|
0.00001
|
NM_176787.5(PIGN):c.344-1G>T
|
rs776568529
|
0.00001
|
NM_176787.5(PIGN):c.805+2T>C
|
rs2036353930
|
0.00001
|
NM_176787.5(PIGN):c.996T>G (p.Ile332Met)
|
rs1060499763
|
0.00001
|
NM_198525.3(KIF7):c.1561-1G>A
|
rs763238645
|
0.00001
|
NC_000001.10:g.(?_220345211)_(220375736_?)dup
|
|
|
NC_000002.11:g.(?_233396141)_(233398358_?)del
|
|
|
NC_000002.11:g.(?_50692560)_(50780183_?)dup
|
|
|
NC_000002.11:g.(?_50724523)_(50808051_?)del
|
|
|
NC_000002.11:g.(?_50750595)_(50765696_?)del
|
|
|
NC_000002.11:g.(?_50847140)_(50850773_?)dup
|
|
|
NC_000002.11:g.(?_50847140)_(51153113_?)dup
|
|
|
NC_000002.11:g.(?_50850729)_(50947381_?)del
|
|
|
NC_000002.11:g.(?_51107396)_(51255135_?)del
|
|
|
NC_000002.12:g.(?_50236769)_(50346969_?)dup
|
|
|
NC_000005.10:g.(?_37045443)_(37048675_?)del
|
|
|
NC_000005.9:g.(?_37045525)_(37048797_?)del
|
|
|
NC_000005.9:g.(?_37057268)_(37061140_?)del
|
|
|
NC_000007.13:g.(?_146471343)_(146537016_?)dup
|
|
|
NC_000007.13:g.(?_146536783)_(146537016_?)dup
|
|
|
NC_000007.13:g.(?_146740979)_(146741166_?)dup
|
|
|
NC_000007.13:g.(?_146740979)_(146829621_?)dup
|
|
|
NC_000007.13:g.(?_146740989)_(146997392_?)dup
|
|
|
NC_000007.13:g.(?_147183007)_(147259369_?)dup
|
|
|
NC_000007.13:g.(?_147183017)_(147183143_?)dup
|
|
|
NC_000007.13:g.(?_147600637)_(147600833_?)dup
|
|
|
NC_000007.13:g.(?_147964105)_(147964238_?)dup
|
|
|
NC_000007.14:g.(?_146774251)_(146774401_?)del
|
|
|
NC_000007.14:g.(?_147977842)_(147978009_?)dup
|
|
|
NC_000008.10:g.(?_100050631)_(100128122_?)dup
|
|
|
NC_000008.10:g.(?_100050631)_(100287502_?)dup
|
|
|
NC_000008.10:g.(?_100050713)_(100057034_?)del
|
|
|
NC_000008.10:g.(?_100108520)_(100205305_?)dup
|
|
|
NC_000008.10:g.(?_100108530)_(100182401_?)dup
|
|
|
NC_000008.10:g.(?_100123306)_(100133735_?)dup
|
|
|
NC_000008.10:g.(?_100133385)_(100160258_?)dup
|
|
|
NC_000008.10:g.(?_100157931)_(100160219_?)del
|
|
|
NC_000008.10:g.(?_100162579)_(100168929_?)del
|
|
|
NC_000008.10:g.(?_100205094)_(100205295_?)dup
|
|
|
NC_000008.10:g.(?_100205094)_(100287492_?)dup
|
|
|
NC_000008.10:g.(?_100286406)_(100287502_?)del
|
|
|
NC_000008.10:g.(?_100396426)_(100479872_?)dup
|
|
|
NC_000008.10:g.(?_100403765)_(100403952_?)dup
|
|
|
NC_000008.10:g.(?_100443745)_(100533258_?)dup
|
|
|
NC_000008.10:g.(?_100443755)_(100443902_?)dup
|
|
|
NC_000008.10:g.(?_100479254)_(100479653_?)del
|
|
|
NC_000008.10:g.(?_100515082)_(100516199_?)del
|
|
|
NC_000008.10:g.(?_100515082)_(100589871_?)del
|
|
|
NC_000008.10:g.(?_100568668)_(100673729_?)dup
|
|
|
NC_000008.10:g.(?_100654029)_(100654736_?)dup
|
|
|
NC_000008.10:g.(?_100673562)_(100847986_?)dup
|
|
|
NC_000008.10:g.(?_100711743)_(100712170_?)del
|
|
|
NC_000008.10:g.(?_100778144)_(100779154_?)del
|
|
|
NC_000008.10:g.(?_100781239)_(100789156_?)del
|
|
|
NC_000008.10:g.(?_100790890)_(100836226_?)dup
|
|
|
NC_000008.10:g.(?_100821583)_(100821778_?)del
|
|
|
NC_000008.10:g.(?_100821603)_(100821758_?)del
|
|
|
NC_000008.10:g.(?_100882993)_(100883945_?)dup
|
|
|
NC_000008.10:g.(?_126079753)_(126096155_?)del
|
|
|
NC_000008.11:g.(?_99134631)_(99511512_?)dup
|
|
|
NC_000008.11:g.(?_99192876)_(99209768_?)dup
|
|
|
NC_000008.11:g.(?_99209582)_(99275264_?)del
|
|
|
NC_000009.11:g.(?_140605399)_(140652483_?)dup
|
|
|
NC_000009.11:g.(?_140605409)_(140605492_?)dup
|
|
|
NC_000009.11:g.(?_140657107)_(140685442_?)dup
|
|
|
NC_000009.12:g.(?_137743351)_(137744110_?)dup
|
|
|
NC_000009.12:g.(?_137790828)_(137790990_?)del
|
|
|
NC_000009.12:g.(?_137790828)_(137818158_?)del
|
|
|
NC_000011.9:g.(?_71146411)_(71152496_?)del
|
|
|
NC_000012.11:g.(?_49419036)_(49424698_?)del
|
|
|
NC_000015.9:g.(?_90173498)_(90188702_?)dup
|
|
|
NC_000016.10:g.(?_3744874)_(3758992_?)del
|
|
|
NC_000016.10:g.89274957_89274959del
|
|
|
NC_000016.9:g.(?_3786017)_(3786836_?)dup
|
|
|
NC_000016.9:g.(?_3786631)_(3790570_?)dup
|
|
|
NC_000016.9:g.(?_3829526)_(3830870_?)del
|
|
|
NC_000016.9:g.(?_89346276)_(89348939_?)del
|
|
|
NC_000018.9:g.(?_59755969)_(59763203_?)dup
|
|
|
NC_000018.9:g.(?_59755969)_(59770155_?)dup
|
|
|
NC_000018.9:g.(?_59772865)_(59775077_?)del
|
|
|
NC_000018.9:g.(?_59819870)_(59824935_?)del
|
|
|
NC_000020.10:g.(?_33044890)_(33049935_?)del
|
|
|
NC_000021.8:g.(?_38868400)_(38884854_?)del
|
|
|
NC_000021.9:g.(?_37492997)_(37493183_?)del
|
|
|
NC_000022.10:g.(?_41531797)_(41566595_?)dup
|
|
|
NC_000022.10:g.(?_41566450)_(41572658_?)del
|
|
|
NC_000023.10:g.(?_152959003)_(152959194_?)del
|
|
|
NC_000023.10:g.(?_71681834)_(71715138_?)dup
|
|
|
NM_000079.4(CHRNA1):c.189+1G>A
|
|
|
NM_000079.4(CHRNA1):c.757T>G (p.Phe253Val)
|
rs137852805
|
|
NM_000079.4(CHRNA1):c.778+2T>A
|
|
|
NM_000193.4(SHH):c.1037C>T (p.Ala346Val)
|
rs2117126655
|
|
NM_000193.4(SHH):c.300+2T>C
|
rs1584805934
|
|
NM_000193.4(SHH):c.596_604del (p.Phe199_Gly201del)
|
rs2117128881
|
|
NM_000751.3(CHRND):c.423G>C (p.Trp141Cys)
|
|
|
NM_000751.3(CHRND):c.509+1G>A
|
|
|
NM_000751.3(CHRND):c.510-1G>T
|
|
|
NM_000751.3(CHRND):c.866C>T (p.Ser289Phe)
|
rs121909502
|
|
NM_000751.3(CHRND):c.932+2T>A
|
|
|
NM_000751.3(CHRND):c.933-2A>G
|
rs1064795719
|
|
NM_001083962.2(TCF4):c.1147-2A>G
|
rs2145503668
|
|
NM_001083962.2(TCF4):c.146-1G>A
|
|
|
NM_001083962.2(TCF4):c.1469C>G (p.Pro490Arg)
|
rs1555722023
|
|
NM_001083962.2(TCF4):c.1486+1G>T
|
rs2048816852
|
|
NM_001083962.2(TCF4):c.1486+5del
|
|
|
NM_001083962.2(TCF4):c.1619A>G (p.Asp540Gly)
|
rs1568329461
|
|
NM_001083962.2(TCF4):c.1705C>T (p.Arg569Trp)
|
|
|
NM_001083962.2(TCF4):c.1721A>T (p.Asn574Ile)
|
|
|
NM_001083962.2(TCF4):c.1727G>T (p.Arg576Leu)
|
rs1057521070
|
|
NM_001083962.2(TCF4):c.1732C>A (p.Arg578Ser)
|
|
|
NM_001083962.2(TCF4):c.1771C>T (p.Leu591Phe)
|
rs2047107163
|
|
NM_001083962.2(TCF4):c.1772T>C (p.Leu591Pro)
|
rs2047106597
|
|
NM_001083962.2(TCF4):c.178G>A (p.Gly60Arg)
|
rs2144897134
|
|
NM_001083962.2(TCF4):c.329C>T (p.Ser110Leu)
|
|
|
NM_001083962.2(TCF4):c.550-12_550-2del
|
rs2146265987
|
|
NM_001083962.2(TCF4):c.550-1G>A
|
rs1601260508
|
|
NM_001083962.2(TCF4):c.655+1G>A
|
rs587784465
|
|
NM_001083962.2(TCF4):c.991-1del
|
rs2145681074
|
|
NM_001083962.2(TCF4):c.998C>T (p.Ser333Phe)
|
rs2057699910
|
|
NM_001101.5(ACTB):c.1021A>G (p.Ile341Val)
|
rs886041305
|
|
NM_001101.5(ACTB):c.1097dup (p.Ser368fs)
|
rs1554329078
|
|
NM_001101.5(ACTB):c.113C>T (p.Pro38Leu)
|
rs1554329646
|
|
NM_001101.5(ACTB):c.143G>A (p.Gly48Asp)
|
rs886041268
|
|
NM_001101.5(ACTB):c.19G>A (p.Ala7Thr)
|
rs1562720119
|
|
NM_001101.5(ACTB):c.220G>A (p.Gly74Ser)
|
rs587779770
|
|
NM_001101.5(ACTB):c.323C>A (p.Ala108Asp)
|
rs1411316425
|
|
NM_001101.5(ACTB):c.511C>T (p.Leu171Phe)
|
|
|
NM_001101.5(ACTB):c.589G>A (p.Gly197Ser)
|
rs1554329317
|
|
NM_001101.5(ACTB):c.7_8delinsTT (p.Asp3Phe)
|
rs1784841235
|
|
NM_001291415.2(KDM6A):c.1581+1G>T
|
rs1602799769
|
|
NM_001291415.2(KDM6A):c.1683+1G>T
|
|
|
NM_001291415.2(KDM6A):c.2079+1G>A
|
|
|
NM_001291415.2(KDM6A):c.3094+2T>C
|
rs1569537333
|
|
NM_001291415.2(KDM6A):c.3300+1G>A
|
rs1602928572
|
|
NM_001291415.2(KDM6A):c.3301-2A>G
|
rs1195711941
|
|
NM_001291415.2(KDM6A):c.334+1G>A
|
|
|
NM_001291415.2(KDM6A):c.3614G>A (p.Cys1205Tyr)
|
rs1556350571
|
|
NM_001291415.2(KDM6A):c.3740C>T (p.Pro1247Leu)
|
rs1602985802
|
|
NM_001291415.2(KDM6A):c.4034+3_4034+6del
|
|
|
NM_001291415.2(KDM6A):c.619_619+1dup
|
|
|
NM_001330078.2(NRXN1):c.1134+1G>A
|
|
|
NM_001330078.2(NRXN1):c.1135-1G>T
|
|
|
NM_001330078.2(NRXN1):c.1135-2A>G
|
rs1679958581
|
|
NM_001330078.2(NRXN1):c.1158+23T>G
|
|
|
NM_001330078.2(NRXN1):c.1759+2T>C
|
rs2105344238
|
|
NM_001330078.2(NRXN1):c.2374+1G>C
|
|
|
NM_001330078.2(NRXN1):c.3070+1G>A
|
|
|
NM_001330078.2(NRXN1):c.3364+1G>A
|
|
|
NM_001330078.2(NRXN1):c.833-2A>C
|
|
|
NM_001347721.2(DYRK1A):c.1235G>A (p.Arg412His)
|
rs202011970
|
|
NM_001347721.2(DYRK1A):c.301-2A>C
|
|
|
NM_001347721.2(DYRK1A):c.476G>T (p.Gly159Val)
|
rs1064796406
|
|
NM_001347721.2(DYRK1A):c.490-1G>C
|
|
|
NM_001347721.2(DYRK1A):c.637+2_637+13del
|
|
|
NM_001347721.2(DYRK1A):c.925-1G>C
|
rs2148619382
|
|
NM_001360.3(DHCR7):c.1022T>C (p.Leu341Pro)
|
rs1317526744
|
|
NM_001360.3(DHCR7):c.1040G>T (p.Gly347Val)
|
|
|
NM_001360.3(DHCR7):c.1084C>G (p.Arg362Gly)
|
rs371302153
|
|
NM_001360.3(DHCR7):c.1210C>A (p.Arg404Ser)
|
rs61757582
|
|
NM_001360.3(DHCR7):c.1210C>G (p.Arg404Gly)
|
rs61757582
|
|
NM_001360.3(DHCR7):c.1211G>A (p.Arg404His)
|
rs1949268223
|
|
NM_001360.3(DHCR7):c.1211G>T (p.Arg404Leu)
|
|
|
NM_001360.3(DHCR7):c.1223A>T (p.Tyr408Phe)
|
rs1219026826
|
|
NM_001360.3(DHCR7):c.1294T>C (p.Tyr432His)
|
rs747656720
|
|
NM_001360.3(DHCR7):c.1324C>G (p.His442Asp)
|
rs2135939533
|
|
NM_001360.3(DHCR7):c.1337G>C (p.Arg446Pro)
|
rs751604696
|
|
NM_001360.3(DHCR7):c.1342G>C (p.Glu448Gln)
|
rs80338864
|
|
NM_001360.3(DHCR7):c.1348C>T (p.Arg450Cys)
|
|
|
NM_001360.3(DHCR7):c.1352G>T (p.Cys451Phe)
|
|
|
NM_001360.3(DHCR7):c.1385A>G (p.Tyr462Cys)
|
|
|
NM_001360.3(DHCR7):c.1397T>C (p.Val466Ala)
|
|
|
NM_001360.3(DHCR7):c.1399C>T (p.Pro467Ser)
|
|
|
NM_001360.3(DHCR7):c.1406G>C (p.Arg469Pro)
|
rs201150384
|
|
NM_001360.3(DHCR7):c.152C>T (p.Pro51Leu)
|
|
|
NM_001360.3(DHCR7):c.278C>A (p.Thr93Lys)
|
|
|
NM_001360.3(DHCR7):c.322-1G>A
|
rs1565588719
|
|
NM_001360.3(DHCR7):c.322-1G>C
|
rs1565588719
|
|
NM_001360.3(DHCR7):c.373T>C (p.Tyr125His)
|
|
|
NM_001360.3(DHCR7):c.374A>G (p.Tyr125Cys)
|
rs2135945513
|
|
NM_001360.3(DHCR7):c.412+2T>C
|
|
|
NM_001360.3(DHCR7):c.533T>A (p.Ile178Asn)
|
|
|
NM_001360.3(DHCR7):c.546G>C (p.Trp182Cys)
|
|
|
NM_001360.3(DHCR7):c.546G>T (p.Trp182Cys)
|
|
|
NM_001360.3(DHCR7):c.548G>A (p.Cys183Tyr)
|
rs2135944619
|
|
NM_001360.3(DHCR7):c.626+2del
|
|
|
NM_001360.3(DHCR7):c.683G>A (p.Arg228Gln)
|
|
|
NM_001360.3(DHCR7):c.725G>C (p.Arg242Pro)
|
|
|
NM_001360.3(DHCR7):c.725G>T (p.Arg242Leu)
|
|
|
NM_001360.3(DHCR7):c.739G>T (p.Ala247Ser)
|
rs767031102
|
|
NM_001360.3(DHCR7):c.782A>G (p.Glu261Gly)
|
rs1406131499
|
|
NM_001360.3(DHCR7):c.817G>A (p.Val273Ile)
|
|
|
NM_001360.3(DHCR7):c.821A>C (p.Asn274Thr)
|
rs774275482
|
|
NM_001360.3(DHCR7):c.838T>G (p.Tyr280Asp)
|
|
|
NM_001360.3(DHCR7):c.88G>A (p.Gly30Ser)
|
|
|
NM_001360.3(DHCR7):c.89G>A (p.Gly30Asp)
|
|
|
NM_001360.3(DHCR7):c.901C>A (p.His301Asn)
|
|
|
NM_001360.3(DHCR7):c.904T>G (p.Phe302Val)
|
|
|
NM_001360.3(DHCR7):c.907G>T (p.Gly303Trp)
|
rs142808899
|
|
NM_001360.3(DHCR7):c.908G>A (p.Gly303Glu)
|
|
|
NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys)
|
rs367585401
|
|
NM_001360.3(DHCR7):c.926G>A (p.Gly309Asp)
|
|
|
NM_001360.3(DHCR7):c.952T>C (p.Tyr318His)
|
|
|
NM_001360.3(DHCR7):c.953A>G (p.Tyr318Cys)
|
rs1457166572
|
|
NM_001360.3(DHCR7):c.977T>G (p.Val326Gly)
|
rs1333822866
|
|
NM_001360.3(DHCR7):c.98+1G>T
|
|
|
NM_001360.3(DHCR7):c.98+2T>C
|
|
|
NM_001360.3(DHCR7):c.98+2_98+6del
|
rs1301873688
|
|
NM_001367561.1(DOCK7):c.1519+1G>A
|
|
|
NM_001367561.1(DOCK7):c.2200-2A>G
|
|
|
NM_001367561.1(DOCK7):c.2431+1G>A
|
|
|
NM_001367561.1(DOCK7):c.2432-2A>C
|
rs760580647
|
|
NM_001367561.1(DOCK7):c.2596+1G>C
|
|
|
NM_001367561.1(DOCK7):c.2767-1G>A
|
rs1645656856
|
|
NM_001367561.1(DOCK7):c.2949+2T>C
|
|
|
NM_001367561.1(DOCK7):c.3187-31_3274del
|
rs2149393215
|
|
NM_001367561.1(DOCK7):c.5493+1G>T
|
|
|
NM_001367561.1(DOCK7):c.5724+1G>A
|
rs2149260122
|
|
NM_001367561.1(DOCK7):c.5725-2A>G
|
|
|
NM_001374353.1(GLI2):c.149-877_238del
|
|
|
NM_001374353.1(GLI2):c.1905+1G>A
|
rs1558937172
|
|
NM_001429.4(EP300):c.1282+1G>A
|
|
|
NM_001429.4(EP300):c.1739G>A (p.Arg580Gln)
|
|
|
NM_001429.4(EP300):c.1878+1G>A
|
rs2058974109
|
|
NM_001429.4(EP300):c.3589A>T (p.Arg1197Trp)
|
rs1340981566
|
|
NM_001429.4(EP300):c.3729-1G>T
|
rs2145756375
|
|
NM_001429.4(EP300):c.4287-1G>T
|
|
|
NM_001429.4(EP300):c.5897del (p.Gly1966fs)
|
|
|
NM_001614.5(ACTG1):c.1013C>G (p.Ser338Trp)
|
rs1192977984
|
|
NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val)
|
rs782217473
|
|
NM_001614.5(ACTG1):c.188G>C (p.Gly63Ala)
|
|
|
NM_001614.5(ACTG1):c.404C>T (p.Ala135Val)
|
rs11549190
|
|
NM_001614.5(ACTG1):c.431C>T (p.Ala144Val)
|
|
|
NM_001614.5(ACTG1):c.442A>G (p.Thr148Ala)
|
|
|
NM_001614.5(ACTG1):c.457A>G (p.Met153Val)
|
rs1555666789
|
|
NM_001614.5(ACTG1):c.547C>T (p.Arg183Trp)
|
rs1362994447
|
|
NM_001614.5(ACTG1):c.617G>A (p.Arg206Gln)
|
rs1555666715
|
|
NM_001614.5(ACTG1):c.714_716del (p.Lys238_Ser239delinsAsn)
|
|
|
NM_002397.5(MEF2C):c.170A>G (p.Tyr57Cys)
|
rs2153074319
|
|
NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys)
|
rs796052728
|
|
NM_002397.5(MEF2C):c.637+1G>C
|
rs2152497250
|
|
NM_002397.5(MEF2C):c.637+1G>T
|
|
|
NM_002397.5(MEF2C):c.638-1G>A
|
rs2152281284
|
|
NM_002397.5(MEF2C):c.71G>A (p.Arg24Lys)
|
rs869312698
|
|
NM_002397.5(MEF2C):c.79G>A (p.Gly27Arg)
|
|
|
NM_002397.5(MEF2C):c.810+2T>C
|
|
|
NM_002641.4(PIGA):c.1352T>C (p.Ile451Thr)
|
rs2147714706
|
|
NM_002641.4(PIGA):c.145G>A (p.Val49Met)
|
rs1569180100
|
|
NM_002641.4(PIGA):c.188G>C (p.Arg63Thr)
|
|
|
NM_002641.4(PIGA):c.193C>T (p.His65Tyr)
|
rs1602212285
|
|
NM_002641.4(PIGA):c.242G>A (p.Arg81His)
|
rs1922162801
|
|
NM_003036.4(SKI):c.104C>A (p.Pro35Gln)
|
rs397514589
|
|
NM_003036.4(SKI):c.104C>T (p.Pro35Leu)
|
|
|
NM_003036.4(SKI):c.350G>A (p.Gly117Asp)
|
rs2100790073
|
|
NM_003036.4(SKI):c.68A>C (p.Gln23Pro)
|
rs1557806222
|
|
NM_003244.4(TGIF1):c.268C>T (p.Arg90Cys)
|
rs1555650923
|
|
NM_003482.4(KMT2D):c.10232-1G>A
|
|
|
NM_003482.4(KMT2D):c.10502T>G (p.Val3501Gly)
|
rs1565781216
|
|
NM_003482.4(KMT2D):c.10595T>C (p.Ile3532Thr)
|
rs1943100257
|
|
NM_003482.4(KMT2D):c.10690C>T (p.Leu3564Phe)
|
rs2120452029
|
|
NM_003482.4(KMT2D):c.10744C>T (p.Arg3582Trp)
|
rs1943085639
|
|
NM_003482.4(KMT2D):c.1112+1G>C
|
|
|
NM_003482.4(KMT2D):c.13651_15785-305del
|
|
|
NM_003482.4(KMT2D):c.14075+1G>A
|
rs1057516039
|
|
NM_003482.4(KMT2D):c.14076-2A>C
|
rs1592110749
|
|
NM_003482.4(KMT2D):c.15157GACCTG[1] (p.5053DL[1])
|
rs398123725
|
|
NM_003482.4(KMT2D):c.15185G>C (p.Cys5062Ser)
|
|
|
NM_003482.4(KMT2D):c.15230T>C (p.Leu5077Pro)
|
rs398123726
|
|
NM_003482.4(KMT2D):c.15397T>C (p.Cys5133Arg)
|
rs2120360235
|
|
NM_003482.4(KMT2D):c.15536G>C (p.Arg5179Pro)
|
rs267607237
|
|
NM_003482.4(KMT2D):c.15565G>A (p.Gly5189Arg)
|
rs1555185701
|
|
NM_003482.4(KMT2D):c.15629A>G (p.Tyr5210Cys)
|
rs1942587772
|
|
NM_003482.4(KMT2D):c.15921+1G>A
|
rs1555185299
|
|
NM_003482.4(KMT2D):c.15922-1G>A
|
|
|
NM_003482.4(KMT2D):c.15922-2A>G
|
rs2137710791
|
|
NM_003482.4(KMT2D):c.16052+2T>G
|
|
|
NM_003482.4(KMT2D):c.16295G>T (p.Arg5432Leu)
|
|
|
NM_003482.4(KMT2D):c.16338+1G>A
|
rs1555184782
|
|
NM_003482.4(KMT2D):c.16338+2T>C
|
rs1555184777
|
|
NM_003482.4(KMT2D):c.16339-1G>C
|
rs2137705201
|
|
NM_003482.4(KMT2D):c.16339-2A>C
|
|
|
NM_003482.4(KMT2D):c.16529A>G (p.Tyr5510Cys)
|
rs1383821738
|
|
NM_003482.4(KMT2D):c.2798-1G>A
|
|
|
NM_003482.4(KMT2D):c.3907-1G>A
|
rs2120632521
|
|
NM_003482.4(KMT2D):c.4222T>G (p.Cys1408Gly)
|
rs1555195432
|
|
NM_003482.4(KMT2D):c.4237-2A>G
|
rs797045001
|
|
NM_003482.4(KMT2D):c.4267C>A (p.Arg1423Ser)
|
|
|
NM_003482.4(KMT2D):c.4290T>G (p.Cys1430Trp)
|
|
|
NM_003482.4(KMT2D):c.4359C>G (p.His1453Gln)
|
rs767737749
|
|
NM_003482.4(KMT2D):c.49+1del
|
rs1565826250
|
|
NM_003482.4(KMT2D):c.4963+1G>T
|
|
|
NM_003482.4(KMT2D):c.510+2T>C
|
|
|
NM_003482.4(KMT2D):c.5189-1G>C
|
rs2120577091
|
|
NM_003482.4(KMT2D):c.5189-2A>G
|
|
|
NM_003482.4(KMT2D):c.5319+1G>A
|
rs1057520722
|
|
NM_003482.4(KMT2D):c.5868-1G>A
|
rs867333942
|
|
NM_003482.4(KMT2D):c.8046+2T>G
|
|
|
NM_003482.4(KMT2D):c.840-2A>G
|
rs1555198201
|
|
NM_004380.3(CREBBP):c.1574-2A>G
|
rs2141248421
|
|
NM_004380.3(CREBBP):c.2283+1G>T
|
|
|
NM_004380.3(CREBBP):c.2464-1G>A
|
rs2052993075
|
|
NM_004380.3(CREBBP):c.3248_3250+4del
|
|
|
NM_004380.3(CREBBP):c.4216G>T (p.Asp1406Tyr)
|
rs2052153254
|
|
NM_004380.3(CREBBP):c.4281-2A>T
|
|
|
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys)
|
rs398124146
|
|
NM_004380.3(CREBBP):c.4395-2A>C
|
rs2151330226
|
|
NM_004380.3(CREBBP):c.4615T>A (p.Tyr1539Asn)
|
|
|
NM_004380.3(CREBBP):c.4719_4728+614del
|
|
|
NM_004380.3(CREBBP):c.5059T>C (p.Ser1687Pro)
|
rs61731407
|
|
NM_004380.3(CREBBP):c.5060C>T (p.Ser1687Phe)
|
rs2151316542
|
|
NM_004380.3(CREBBP):c.5600G>A (p.Arg1867Gln)
|
rs1131691326
|
|
NM_004380.3(CREBBP):c.5615T>C (p.Met1872Thr)
|
rs879255381
|
|
NM_004456.5(EZH2):c.1990G>T (p.Asp664Tyr)
|
rs1060503430
|
|
NM_004456.5(EZH2):c.2000T>C (p.Met667Thr)
|
rs1584875099
|
|
NM_004456.5(EZH2):c.2048C>A (p.Thr683Asn)
|
rs1802412684
|
|
NM_004456.5(EZH2):c.2132A>T (p.His711Leu)
|
rs1584862929
|
|
NM_004456.5(EZH2):c.2187T>G (p.Phe729Leu)
|
rs1584862620
|
|
NM_004456.5(EZH2):c.2196-10_2197dup
|
rs1584844589
|
|
NM_004456.5(EZH2):c.2218_2220dup (p.Lys740dup)
|
rs1563181659
|
|
NM_005343.4(HRAS):c.171_185dup (p.Asp57_Gln61dup)
|
rs2133990973
|
|
NM_005343.4(HRAS):c.178G>A (p.Gly60Ser)
|
rs1589792804
|
|
NM_005343.4(HRAS):c.37G>A (p.Gly13Ser)
|
rs104894228
|
|
NM_005343.4(HRAS):c.437C>T (p.Ala146Val)
|
rs121917759
|
|
NM_005360.5(MAF):c.185C>T (p.Thr62Met)
|
rs727502771
|
|
NM_005360.5(MAF):c.905C>T (p.Ala302Val)
|
rs1481963503
|
|
NM_005360.5(MAF):c.916C>G (p.Arg306Gly)
|
rs1913781557
|
|
NM_005413.4(SIX3):c.770G>C (p.Arg257Pro)
|
rs121917879
|
|
NM_005445.4(SMC3):c.1127A>C (p.Tyr376Ser)
|
|
|
NM_005445.4(SMC3):c.1417T>C (p.Trp473Arg)
|
rs1861180567
|
|
NM_005445.4(SMC3):c.1505G>A (p.Gly502Glu)
|
|
|
NM_005445.4(SMC3):c.1901G>A (p.Arg634His)
|
rs2134740210
|
|
NM_005445.4(SMC3):c.1925T>C (p.Leu642Pro)
|
rs1590563617
|
|
NM_005445.4(SMC3):c.1942A>G (p.Met648Val)
|
rs886041239
|
|
NM_005445.4(SMC3):c.2347A>C (p.Thr783Pro)
|
|
|
NM_005445.4(SMC3):c.2590T>C (p.Ser864Pro)
|
|
|
NM_005629.4(SLC6A8):c.1016+2T>C
|
rs1557045066
|
|
NM_005629.4(SLC6A8):c.1016+2_1016+5del
|
rs2148363006
|
|
NM_005629.4(SLC6A8):c.1513GAC[1] (p.Asp506del)
|
rs2091477188
|
|
NM_005629.4(SLC6A8):c.1631C>T (p.Pro544Leu)
|
rs397515558
|
|
NM_005629.4(SLC6A8):c.263-3_271del
|
|
|
NM_005629.4(SLC6A8):c.342G>C (p.Gln114His)
|
rs2091449037
|
|
NM_005629.4(SLC6A8):c.394+2T>G
|
|
|
NM_005629.4(SLC6A8):c.859_913-39del
|
|
|
NM_005629.4(SLC6A8):c.912+2T>G
|
rs2091466607
|
|
NM_006265.3(RAD21):c.1858A>T (p.Ile620Phe)
|
rs764118613
|
|
NM_006265.3(RAD21):c.814+2T>C
|
|
|
NM_006306.4(SMC1A):c.1405C>T (p.Arg469Cys)
|
|
|
NM_006306.4(SMC1A):c.1486C>T (p.Arg496Cys)
|
rs2075701790
|
|
NM_006306.4(SMC1A):c.1546-2A>C
|
|
|
NM_006306.4(SMC1A):c.1714C>T (p.Pro572Ser)
|
|
|
NM_006306.4(SMC1A):c.1877G>A (p.Arg626His)
|
rs587784407
|
|
NM_006306.4(SMC1A):c.2314-2A>G
|
rs1602409271
|
|
NM_006306.4(SMC1A):c.2314-2A>T
|
rs1602409271
|
|
NM_006306.4(SMC1A):c.2314-7_2314-3del
|
rs2146598341
|
|
NM_006306.4(SMC1A):c.2320G>T (p.Asp774Tyr)
|
rs2075680329
|
|
NM_006306.4(SMC1A):c.3056_3082delinsTGCAG (p.Arg1019fs)
|
rs1556886127
|
|
NM_006306.4(SMC1A):c.3254A>G (p.Tyr1085Cys)
|
rs587784418
|
|
NM_006306.4(SMC1A):c.3344G>A (p.Cys1115Tyr)
|
rs2146582443
|
|
NM_006306.4(SMC1A):c.3344G>T (p.Cys1115Phe)
|
rs2146582443
|
|
NM_006306.4(SMC1A):c.3437+1G>A
|
rs2146582412
|
|
NM_006306.4(SMC1A):c.3461T>A (p.Val1154Asp)
|
rs1569351534
|
|
NM_006306.4(SMC1A):c.3497A>G (p.Asn1166Ser)
|
rs1556885810
|
|
NM_006306.4(SMC1A):c.3652_3663del (p.Phe1218_Thr1221del)
|
rs1569351341
|
|
NM_006306.4(SMC1A):c.855-1G>A
|
|
|
NM_007129.5(ZIC2):c.1200_1205del (p.Lys400_Tyr402delinsAsn)
|
rs2053256914
|
|
NM_007129.5(ZIC2):c.1229_1234del (p.Lys410_His411del)
|
rs1566405714
|
|
NM_007129.5(ZIC2):c.1243del (p.His415fs)
|
rs2152163697
|
|
NM_007129.5(ZIC2):c.1388_1389insAGCGGCGGCGGCAGCGGCGGCGGCAGCGGCGGC (p.Ala470_Val471insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
|
|
|
NM_012330.4(KAT6B):c.3022-1G>C
|
|
|
NM_012414.4(RAB3GAP2):c.1715-1G>A
|
|
|
NM_013275.6(ANKRD11):c.226G>A (p.Glu76Lys)
|
rs1555535454
|
|
NM_013275.6(ANKRD11):c.745-2A>G
|
|
|
NM_013275.6(ANKRD11):c.7714-1G>C
|
rs2151676035
|
|
NM_013275.6(ANKRD11):c.893-2A>G
|
rs2151766883
|
|
NM_014141.6(CNTNAP2):c.1084-2A>C
|
|
|
NM_014141.6(CNTNAP2):c.1348+1G>A
|
|
|
NM_014141.6(CNTNAP2):c.1349-1G>A
|
|
|
NM_014141.6(CNTNAP2):c.208+1G>A
|
|
|
NM_014141.6(CNTNAP2):c.3345_3381+346del
|
|
|
NM_014141.6(CNTNAP2):c.3382-2A>C
|
rs1085307838
|
|
NM_014141.6(CNTNAP2):c.3922_3970dup (p.Glu1324delinsGlyArgArgHisHisGluGlnArgProGlnLeuHisArgAspHisTer)
|
rs757043221
|
|
NM_014141.6(CNTNAP2):c.402+1G>C
|
rs767408882
|
|
NM_014141.6(CNTNAP2):c.97+1G>A
|
rs972116002
|
|
NM_014141.6(CNTNAP2):c.98-1G>A
|
rs2129185949
|
|
NM_014795.4(ZEB2):c.3119ACC[3] (p.His1041_Leu1042insHis)
|
|
|
NM_014795.4(ZEB2):c.3146A>G (p.His1049Arg)
|
rs1114167349
|
|
NM_014795.4(ZEB2):c.3208_3213del (p.Tyr1070_Ser1071del)
|
|
|
NM_014795.4(ZEB2):c.73+2T>C
|
rs398124282
|
|
NM_014795.4(ZEB2):c.916+1G>T
|
rs2149877941
|
|
NM_014795.4(ZEB2):c.917G>A (p.Gly306Asp)
|
rs1703292916
|
|
NM_014846.4(WASHC5):c.1151-2A>G
|
rs1563627853
|
|
NM_014846.4(WASHC5):c.186+1G>C
|
|
|
NM_014846.4(WASHC5):c.2086G>A (p.Gly696Ser)
|
rs1060502725
|
|
NM_014846.4(WASHC5):c.2087G>A (p.Gly696Asp)
|
rs397515564
|
|
NM_014846.4(WASHC5):c.740G>A (p.Arg247His)
|
|
|
NM_015443.4(KANSL1):c.1533+1G>A
|
|
|
NM_015443.4(KANSL1):c.1768_1769delinsAG (p.Ala590Arg)
|
rs2078387202
|
|
NM_015443.4(KANSL1):c.2542-1G>A
|
rs111514883
|
|
NM_017890.5(VPS13B):c.4158-2A>G
|
rs2133626470
|
|
NM_018486.3(HDAC8):c.1005+2T>C
|
rs2148039062
|
|
NM_018486.3(HDAC8):c.1019A>C (p.Tyr340Ser)
|
rs1555949010
|
|
NM_018486.3(HDAC8):c.738-2A>G
|
|
|
NM_022552.5(DNMT3A):c.1523T>C (p.Leu508Pro)
|
|
|
NM_022552.5(DNMT3A):c.1554+1G>A
|
rs766110518
|
|
NM_022552.5(DNMT3A):c.1667+1G>A
|
|
|
NM_022552.5(DNMT3A):c.2409-1G>A
|
rs866917013
|
|
NM_022552.5(DNMT3A):c.2495C>T (p.Thr832Ile)
|
rs1573297136
|
|
NM_022552.5(DNMT3A):c.2540_2541del (p.His847fs)
|
rs1558653090
|
|
NM_022552.5(DNMT3A):c.855+1G>A
|
rs772041639
|
|
NM_024665.7(TBL1XR1):c.1048-1G>A
|
rs1576993734
|
|
NM_024665.7(TBL1XR1):c.1385T>C (p.Phe462Ser)
|
|
|
NM_024665.7(TBL1XR1):c.1387G>A (p.Asp463Asn)
|
rs1560098548
|
|
NM_024665.7(TBL1XR1):c.514G>C (p.Val172Leu)
|
rs1716920045
|
|
NM_024665.7(TBL1XR1):c.734A>G (p.Tyr245Cys)
|
rs878854401
|
|
NM_024665.7(TBL1XR1):c.864+1G>A
|
|
|
NM_024757.5(EHMT1):c.1170+2T>C
|
|
|
NM_024757.5(EHMT1):c.1370-1G>C
|
|
|
NM_024757.5(EHMT1):c.13_21+153del
|
rs1564509503
|
|
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu)
|
rs587780332
|
|
NM_024757.5(EHMT1):c.3259-1G>A
|
rs1554897763
|
|
NM_024757.5(EHMT1):c.3313T>C (p.Cys1105Arg)
|
|
|
NM_024757.5(EHMT1):c.347A>G (p.Gln116Arg)
|
|
|
NM_024757.5(EHMT1):c.50_85+60del
|
rs2135388757
|
|
NM_024757.5(EHMT1):c.643-1G>A
|
|
|
NM_031483.7(ITCH):c.1099_1140+38dup
|
|
|
NM_031483.7(ITCH):c.1569+1G>T
|
|
|
NM_058179.4(PSAT1):c.122-1G>C
|
rs772958302
|
|
NM_058179.4(PSAT1):c.43_60+9del
|
|
|
NM_058179.4(PSAT1):c.570+2T>C
|
|
|
NM_058179.4(PSAT1):c.570+2_570+15del
|
rs2118643983
|
|
NM_058179.4(PSAT1):c.571-1G>A
|
rs1828216198
|
|
NM_133433.4(NIPBL):c.3575-2A>G
|
|
|
NM_133433.4(NIPBL):c.3664+1G>A
|
|
|
NM_133433.4(NIPBL):c.4560+1G>C
|
rs2149681631
|
|
NM_133433.4(NIPBL):c.4746ACT[3] (p.Leu1585dup)
|
rs1748964402
|
|
NM_133433.4(NIPBL):c.5011-1G>C
|
rs1561169166
|
|
NM_133433.4(NIPBL):c.5225+2T>G
|
|
|
NM_133433.4(NIPBL):c.5374G>C (p.Ala1792Pro)
|
rs1554025675
|
|
NM_133433.4(NIPBL):c.5464G>A (p.Asp1822Asn)
|
|
|
NM_133433.4(NIPBL):c.5466T>G (p.Asp1822Glu)
|
|
|
NM_133433.4(NIPBL):c.5575-1G>A
|
rs1750049152
|
|
NM_133433.4(NIPBL):c.5862+1G>A
|
rs587783985
|
|
NM_133433.4(NIPBL):c.6038G>A (p.Ser2013Asn)
|
rs1554030233
|
|
NM_133433.4(NIPBL):c.6068A>G (p.His2023Arg)
|
rs587783991
|
|
NM_133433.4(NIPBL):c.6249+1G>A
|
rs2149730953
|
|
NM_133433.4(NIPBL):c.6455G>C (p.Arg2152Pro)
|
rs781297222
|
|
NM_133433.4(NIPBL):c.6860T>C (p.Leu2287Pro)
|
|
|
NM_133433.4(NIPBL):c.7079G>A (p.Gly2360Asp)
|
rs2149742261
|
|
NM_133433.4(NIPBL):c.7169C>T (p.Ala2390Val)
|
|
|
NM_133433.4(NIPBL):c.7263+1G>A
|
|
|
NM_133433.4(NIPBL):c.7410+4A>G
|
rs1561222738
|
|
NM_133433.4(NIPBL):c.7623G>A (p.Gln2541=)
|
rs1754396332
|
|
NM_133433.4(NIPBL):c.7832A>G (p.Lys2611Arg)
|
rs1554035311
|
|
NM_138425.4(C12orf57):c.184C>T (p.Gln62Ter)
|
rs587777698
|
|
NM_138425.4(C12orf57):c.52+1G>C
|
|
|
NM_152564.5(VPS13B):c.10867+1G>T
|
rs780902262
|
|
NM_152564.5(VPS13B):c.10868-2A>G
|
|
|
NM_152564.5(VPS13B):c.11181_11215+10del
|
|
|
NM_152564.5(VPS13B):c.11392+1G>T
|
rs1554587021
|
|
NM_152564.5(VPS13B):c.11393-1G>C
|
|
|
NM_152564.5(VPS13B):c.11495+178_11507delinsCAG
|
|
|
NM_152564.5(VPS13B):c.11495+1G>A
|
|
|
NM_152564.5(VPS13B):c.1303-1G>C
|
rs1554634091
|
|
NM_152564.5(VPS13B):c.147+1G>C
|
|
|
NM_152564.5(VPS13B):c.148-2A>G
|
rs768406797
|
|
NM_152564.5(VPS13B):c.1563+1G>T
|
rs1057516923
|
|
NM_152564.5(VPS13B):c.1563G>A (p.Lys521=)
|
rs180177355
|
|
NM_152564.5(VPS13B):c.1651+1G>T
|
|
|
NM_152564.5(VPS13B):c.1652-2A>T
|
rs2132580903
|
|
NM_152564.5(VPS13B):c.1843+1G>A
|
|
|
NM_152564.5(VPS13B):c.2013+2341_2166del
|
|
|
NM_152564.5(VPS13B):c.2209-2A>G
|
|
|
NM_152564.5(VPS13B):c.2333+1G>T
|
rs1812243683
|
|
NM_152564.5(VPS13B):c.2516-2A>G
|
rs1554706114
|
|
NM_152564.5(VPS13B):c.2824+2T>G
|
rs141703746
|
|
NM_152564.5(VPS13B):c.291+1G>A
|
rs1057516857
|
|
NM_152564.5(VPS13B):c.291+2T>A
|
|
|
NM_152564.5(VPS13B):c.292-2A>G
|
rs386834079
|
|
NM_152564.5(VPS13B):c.2934+1G>T
|
rs775729058
|
|
NM_152564.5(VPS13B):c.2934+2T>A
|
|
|
NM_152564.5(VPS13B):c.2935-1G>A
|
rs2133312466
|
|
NM_152564.5(VPS13B):c.3082+1G>A
|
|
|
NM_152564.5(VPS13B):c.3083-1G>A
|
rs1563726973
|
|
NM_152564.5(VPS13B):c.3445+2T>A
|
|
|
NM_152564.5(VPS13B):c.3446-1G>A
|
|
|
NM_152564.5(VPS13B):c.3446-382_3463del
|
rs1588410519
|
|
NM_152564.5(VPS13B):c.3667-1G>A
|
rs750609612
|
|
NM_152564.5(VPS13B):c.3870+1G>A
|
rs764225649
|
|
NM_152564.5(VPS13B):c.3870+1G>T
|
rs764225649
|
|
NM_152564.5(VPS13B):c.412+1G>C
|
rs1057517295
|
|
NM_152564.5(VPS13B):c.412+2T>C
|
|
|
NM_152564.5(VPS13B):c.4157+2T>G
|
|
|
NM_152564.5(VPS13B):c.4225-1G>A
|
rs2133637043
|
|
NM_152564.5(VPS13B):c.4633+1G>A
|
|
|
NM_152564.5(VPS13B):c.4634-2A>G
|
rs2133668102
|
|
NM_152564.5(VPS13B):c.4746-1G>T
|
rs768342041
|
|
NM_152564.5(VPS13B):c.4950-1G>C
|
rs1554852945
|
|
NM_152564.5(VPS13B):c.5076+1G>C
|
|
|
NM_152564.5(VPS13B):c.5076+1G>T
|
|
|
NM_152564.5(VPS13B):c.5077-62_5084delinsAAGTAAGG
|
|
|
NM_152564.5(VPS13B):c.580+1G>A
|
rs1846848656
|
|
NM_152564.5(VPS13B):c.580+2T>C
|
|
|
NM_152564.5(VPS13B):c.581-1G>A
|
|
|
NM_152564.5(VPS13B):c.5908+2dup
|
rs587777381
|
|
NM_152564.5(VPS13B):c.6046+1G>T
|
rs750003804
|
|
NM_152564.5(VPS13B):c.7050+1G>T
|
rs1057516840
|
|
NM_152564.5(VPS13B):c.7247+2043_7403del
|
|
|
NM_152564.5(VPS13B):c.7248-1G>C
|
rs763079458
|
|
NM_152564.5(VPS13B):c.762+1G>A
|
|
|
NM_152564.5(VPS13B):c.762+2T>C
|
rs1588048848
|
|
NM_152564.5(VPS13B):c.763-1G>T
|
|
|
NM_152564.5(VPS13B):c.7779+1G>C
|
|
|
NM_152564.5(VPS13B):c.7779+1G>T
|
|
|
NM_152564.5(VPS13B):c.8098-1G>C
|
rs1554565484
|
|
NM_152564.5(VPS13B):c.8243C>T (p.Ser2748Leu)
|
rs180177370
|
|
NM_152564.5(VPS13B):c.8361+1G>A
|
rs542757501
|
|
NM_152564.5(VPS13B):c.8362-1G>C
|
|
|
NM_152564.5(VPS13B):c.8445+1G>C
|
|
|
NM_152564.5(VPS13B):c.8622-9A>G
|
rs386834116
|
|
NM_152564.5(VPS13B):c.8793-2A>G
|
|
|
NM_152564.5(VPS13B):c.8995-1G>A
|
|
|
NM_152564.5(VPS13B):c.8995-2A>G
|
rs1554569259
|
|
NM_152564.5(VPS13B):c.9183+1G>A
|
rs2130822351
|
|
NM_152564.5(VPS13B):c.9183+2T>G
|
|
|
NM_152564.5(VPS13B):c.9184-1G>A
|
|
|
NM_152564.5(VPS13B):c.9184-2A>G
|
|
|
NM_152564.5(VPS13B):c.9184-2_9184del
|
rs1057516807
|
|
NM_152564.5(VPS13B):c.9330+1G>C
|
rs756013171
|
|
NM_152564.5(VPS13B):c.9330+2T>C
|
rs1554570388
|
|
NM_152564.5(VPS13B):c.937+1G>A
|
|
|
NM_152564.5(VPS13B):c.938-1G>C
|
rs2132515671
|
|
NM_152564.5(VPS13B):c.9742+1G>A
|
|
|
NM_152564.5(VPS13B):c.9742+2T>C
|
rs1434569440
|
|
NM_152564.5(VPS13B):c.9743-2A>C
|
rs1815345770
|
|
NM_152564.5(VPS13B):c.9743-5_9744del
|
|
|
NM_152564.5(VPS13B):c.9934_9942+5del
|
rs1554575693
|
|
NM_152564.5(VPS13B):c.9942+1G>A
|
rs1057517063
|
|
NM_152564.5(VPS13B):c.9942+1G>T
|
rs1057517063
|
|
NM_176787.5(PIGN):c.1109A>C (p.Gln370Pro)
|
|
|
NM_176787.5(PIGN):c.1116+1G>A
|
|
|
NM_176787.5(PIGN):c.1173-1G>T
|
rs2035018293
|
|
NM_176787.5(PIGN):c.1434_1434+1delinsAA
|
rs886041514
|
|
NM_176787.5(PIGN):c.1574+1G>A
|
|
|
NM_176787.5(PIGN):c.1574+1G>C
|
rs371315187
|
|
NM_176787.5(PIGN):c.1675-1G>T
|
rs772411133
|
|
NM_176787.5(PIGN):c.1860-1G>A
|
rs1599525360
|
|
NM_176787.5(PIGN):c.2077+2T>A
|
rs1599520660
|
|
NM_176787.5(PIGN):c.2181-2A>G
|
rs1453224514
|
|
NM_176787.5(PIGN):c.222-1G>A
|
|
|
NM_176787.5(PIGN):c.2271_2283+1del
|
rs2033903740
|
|
NM_176787.5(PIGN):c.2370+1G>A
|
|
|
NM_176787.5(PIGN):c.2371-1G>T
|
rs778689280
|
|
NM_176787.5(PIGN):c.2371-2A>G
|
|
|
NM_176787.5(PIGN):c.2426+1G>T
|
rs1458045074
|
|
NM_176787.5(PIGN):c.2426+2T>G
|
|
|
NM_176787.5(PIGN):c.2427-1G>A
|
|
|
NM_176787.5(PIGN):c.2427-1G>T
|
|
|
NM_176787.5(PIGN):c.2502+1G>A
|
|
|
NM_176787.5(PIGN):c.2502+1G>T
|
|
|
NM_176787.5(PIGN):c.2503-2A>G
|
|
|
NM_176787.5(PIGN):c.2577-1G>A
|
rs2033087760
|
|
NM_176787.5(PIGN):c.2620-1G>A
|
rs759453664
|
|
NM_176787.5(PIGN):c.2620-2A>G
|
rs1568143319
|
|
NM_176787.5(PIGN):c.283C>T (p.Arg95Trp)
|
rs558341655
|
|
NM_176787.5(PIGN):c.328_549+1908del
|
|
|
NM_176787.5(PIGN):c.343+1G>A
|
|
|
NM_176787.5(PIGN):c.343+2T>C
|
|
|
NM_176787.5(PIGN):c.344-1G>A
|
rs776568529
|
|
NM_176787.5(PIGN):c.344-2A>C
|
rs2147517939
|
|
NM_176787.5(PIGN):c.654T>G (p.His218Gln)
|
rs1035743375
|
|
NM_176787.5(PIGN):c.674+1G>A
|
rs1555694770
|
|
NM_176787.5(PIGN):c.674+2T>A
|
|
|
NM_176787.5(PIGN):c.675-1G>C
|
|
|
NM_176787.5(PIGN):c.675-2A>T
|
|
|
NM_176787.5(PIGN):c.806-1G>C
|
|
|
NM_176787.5(PIGN):c.806-4_808del
|
|
|
NM_176787.5(PIGN):c.922+2T>C
|
|
|
NM_176787.5(PIGN):c.923-1G>A
|
rs1000602230
|
|
NM_176787.5(PIGN):c.923-1G>T
|
|
|
NM_176787.5(PIGN):c.963+1G>T
|
rs1568224018
|
|
NM_176787.5(PIGN):c.963+2T>C
|
|
|
NM_194318.4(B3GLCT):c.161-1G>T
|
|
|
NM_194318.4(B3GLCT):c.71-1G>T
|
|
|
NM_194318.4(B3GLCT):c.851-1G>T
|
|
|
NM_198525.3(KIF7):c.1789-2A>G
|
|
|
NM_198525.3(KIF7):c.2192-1G>A
|
rs1424230161
|
|
NM_198525.3(KIF7):c.2592+2T>G
|
|
|
NM_198525.3(KIF7):c.3318+1G>T
|
|
|
NM_198525.3(KIF7):c.3518-1G>C
|
rs1567057019
|
|
NM_198525.3(KIF7):c.923+2T>G
|
|
|