|
NM_006432.5(NPC2):c.441+1G>A
|
rs140130028
|
0.00399
|
|
NR_003051.4(RMRP):n.72A>G
|
rs199476103
|
0.00156
|
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
|
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)
|
rs121434254
|
0.00105
|
|
NM_000543.5(SMPD1):c.689G>A (p.Arg230His)
|
rs141387770
|
0.00071
|
|
NM_000543.5(SMPD1):c.340G>A (p.Val114Met)
|
rs142215226
|
0.00061
|
|
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)
|
rs80356491
|
0.00026
|
|
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)
|
rs80358259
|
0.00025
|
|
NM_000136.3(FANCC):c.456+4A>T
|
rs104886456
|
0.00021
|
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
|
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)
|
rs761341952
|
0.00012
|
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
|
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu)
|
rs120074117
|
0.00010
|
|
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)
|
rs574034197
|
0.00009
|
|
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys)
|
rs80356490
|
0.00008
|
|
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)
|
rs104886457
|
0.00007
|
|
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
rs28940578
|
0.00006
|
|
NM_000135.4(FANCA):c.1827-1G>A
|
rs555449842
|
0.00005
|
|
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro)
|
rs120074124
|
0.00004
|
|
NM_000022.4(ADA):c.478+1G>A
|
rs761242509
|
0.00003
|
|
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)
|
rs149851163
|
0.00003
|
|
NM_000022.4(ADA):c.911T>G (p.Leu304Arg)
|
rs199422327
|
0.00002
|
|
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln)
|
rs120074132
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr)
|
rs80356492
|
0.00002
|
|
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys)
|
rs56399311
|
0.00001
|
|
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro)
|
rs780825099
|
0.00001
|
|
NM_000135.4(FANCA):c.3382C>G (p.Gln1128Glu)
|
rs1439817346
|
0.00001
|
|
NM_000136.3(FANCC):c.844-1G>C
|
rs774209201
|
0.00001
|
|
NM_000136.3(FANCC):c.996+1G>T
|
rs370510954
|
0.00001
|
|
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys)
|
rs1053321823
|
0.00001
|
|
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu)
|
rs143124972
|
0.00001
|
|
NM_000271.5(NPC1):c.410C>T (p.Thr137Met)
|
rs372947142
|
0.00001
|
|
NM_000383.4(AIRE):c.637C>T (p.Gln213Ter)
|
rs1029475010
|
0.00001
|
|
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln)
|
rs763566905
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys)
|
rs193302880
|
0.00001
|
|
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp)
|
rs780598553
|
0.00001
|
|
NM_000022.4(ADA):c.141_142del (p.Asn48fs)
|
|
|
|
NM_000022.4(ADA):c.187del (p.Ala63fs)
|
|
|
|
NM_000022.4(ADA):c.322del (p.Ala108fs)
|
|
|
|
NM_000022.4(ADA):c.410del (p.Leu137fs)
|
|
|
|
NM_000022.4(ADA):c.511A>T (p.Lys171Ter)
|
rs2065361731
|
|
|
NM_000022.4(ADA):c.516C>A (p.Tyr172Ter)
|
rs748810619
|
|
|
NM_000022.4(ADA):c.622_632del (p.Gly208fs)
|
|
|
|
NM_000022.4(ADA):c.755_756insTG (p.Arg253fs)
|
|
|
|
NM_000022.4(ADA):c.767del (p.Asn256fs)
|
rs2123517868
|
|
|
NM_000022.4(ADA):c.791G>A (p.Trp264Ter)
|
rs2065342571
|
|
|
NM_000022.4(ADA):c.813_814insAC (p.Trp272fs)
|
|
|
|
NM_000022.4(ADA):c.829del (p.Glu277fs)
|
|
|
|
NM_000022.4(ADA):c.83T>A (p.Leu28Ter)
|
|
|
|
NM_000022.4(ADA):c.859C>T (p.Gln287Ter)
|
rs2065327852
|
|
|
NM_000022.4(ADA):c.877_878delinsT (p.Asn293fs)
|
|
|
|
NM_000022.4(ADA):c.946_947insTGTT (p.Gly316fs)
|
|
|
|
NM_000135.4(FANCA):c.1070C>A (p.Ser357Ter)
|
rs773687142
|
|
|
NM_000135.4(FANCA):c.1162A>T (p.Arg388Ter)
|
rs2040091746
|
|
|
NM_000135.4(FANCA):c.1222G>T (p.Glu408Ter)
|
|
|
|
NM_000135.4(FANCA):c.1450G>T (p.Glu484Ter)
|
rs2039845162
|
|
|
NM_000135.4(FANCA):c.1468C>T (p.Gln490Ter)
|
rs1266348463
|
|
|
NM_000135.4(FANCA):c.1585G>T (p.Gly529Ter)
|
rs2039768709
|
|
|
NM_000135.4(FANCA):c.1654G>T (p.Glu552Ter)
|
|
|
|
NM_000135.4(FANCA):c.1822A>T (p.Lys608Ter)
|
rs938278864
|
|
|
NM_000135.4(FANCA):c.1888G>T (p.Glu630Ter)
|
|
|
|
NM_000135.4(FANCA):c.1912G>T (p.Gly638Ter)
|
rs2143367693
|
|
|
NM_000135.4(FANCA):c.1951G>T (p.Gly651Ter)
|
rs140785340
|
|
|
NM_000135.4(FANCA):c.1972G>T (p.Gly658Ter)
|
|
|
|
NM_000135.4(FANCA):c.1A>C (p.Met1Leu)
|
rs772751654
|
|
|
NM_000135.4(FANCA):c.2234G>A (p.Trp745Ter)
|
rs1338018512
|
|
|
NM_000135.4(FANCA):c.2472T>A (p.Cys824Ter)
|
rs2039261844
|
|
|
NM_000135.4(FANCA):c.2489T>A (p.Leu830Ter)
|
rs772477788
|
|
|
NM_000135.4(FANCA):c.2499C>A (p.Cys833Ter)
|
rs2039260856
|
|
|
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter)
|
rs1452688134
|
|
|
NM_000135.4(FANCA):c.2778+83C>G
|
rs750997715
|
|
|
NM_000135.4(FANCA):c.2848G>T (p.Glu950Ter)
|
rs2038967261
|
|
|
NM_000135.4(FANCA):c.2994T>G (p.Tyr998Ter)
|
|
|
|
NM_000135.4(FANCA):c.3017T>A (p.Leu1006Ter)
|
rs2038618125
|
|
|
NM_000135.4(FANCA):c.301C>T (p.Gln101Ter)
|
|
|
|
NM_000135.4(FANCA):c.308C>G (p.Ser103Ter)
|
rs147176389
|
|
|
NM_000135.4(FANCA):c.3133G>T (p.Glu1045Ter)
|
rs2038519770
|
|
|
NM_000135.4(FANCA):c.3478C>T (p.Gln1160Ter)
|
|
|
|
NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter)
|
rs2038398856
|
|
|
NM_000135.4(FANCA):c.3640G>T (p.Glu1214Ter)
|
rs2062172011
|
|
|
NM_000135.4(FANCA):c.364G>T (p.Gly122Ter)
|
rs2040857662
|
|
|
NM_000135.4(FANCA):c.3753C>A (p.Cys1251Ter)
|
rs752126515
|
|
|
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)
|
rs397507553
|
|
|
NM_000135.4(FANCA):c.424A>T (p.Arg142Ter)
|
rs2040853392
|
|
|
NM_000135.4(FANCA):c.467T>A (p.Leu156Ter)
|
rs1419169954
|
|
|
NM_000135.4(FANCA):c.520C>T (p.Gln174Ter)
|
rs1454055874
|
|
|
NM_000135.4(FANCA):c.658C>T (p.Gln220Ter)
|
rs775697743
|
|
|
NM_000135.4(FANCA):c.714dup (p.Val239fs)
|
|
|
|
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter)
|
rs2041102320
|
|
|
NM_000136.3(FANCC):c.1029C>A (p.Tyr343Ter)
|
rs2072504418
|
|
|
NM_000136.3(FANCC):c.1029C>G (p.Tyr343Ter)
|
|
|
|
NM_000136.3(FANCC):c.1084G>T (p.Gly362Ter)
|
rs2072245226
|
|
|
NM_000136.3(FANCC):c.225T>A (p.Cys75Ter)
|
|
|
|
NM_000136.3(FANCC):c.249T>A (p.Tyr83Ter)
|
|
|
|
NM_000136.3(FANCC):c.275G>A (p.Trp92Ter)
|
rs1830584796
|
|
|
NM_000136.3(FANCC):c.282_283del (p.Cys95fs)
|
|
|
|
NM_000136.3(FANCC):c.315_316insCCCG (p.Gly106fs)
|
|
|
|
NM_000136.3(FANCC):c.323C>A (p.Ser108Ter)
|
rs1830581816
|
|
|
NM_000136.3(FANCC):c.353T>A (p.Leu118Ter)
|
rs1825725461
|
|
|
NM_000136.3(FANCC):c.464T>A (p.Leu155Ter)
|
rs1825652774
|
|
|
NM_000136.3(FANCC):c.560del (p.Cys187fs)
|
|
|
|
NM_000136.3(FANCC):c.661G>T (p.Glu221Ter)
|
rs1830059125
|
|
|
NM_000136.3(FANCC):c.67del (p.Asp23fs)
|
rs104886459
|
|
|
NM_000136.3(FANCC):c.683dup (p.Leu228fs)
|
|
|
|
NM_000136.3(FANCC):c.793G>T (p.Glu265Ter)
|
rs1827526425
|
|
|
NM_000136.3(FANCC):c.822C>A (p.Cys274Ter)
|
|
|
|
NM_000206.3(IL2RG):c.235_236delinsT (p.Glu79fs)
|
|
|
|
NM_000206.3(IL2RG):c.480_481del (p.Leu162fs)
|
|
|
|
NM_000206.3(IL2RG):c.481del (p.Thr161fs)
|
|
|
|
NM_000206.3(IL2RG):c.489_490del (p.His163fs)
|
|
|
|
NM_000206.3(IL2RG):c.537_538del (p.Asn180fs)
|
|
|
|
NM_000206.3(IL2RG):c.715G>T (p.Glu239Ter)
|
|
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
|
NM_000271.5(NPC1):c.1070C>A (p.Ser357Ter)
|
rs1555637232
|
|
|
NM_000271.5(NPC1):c.1092T>A (p.Cys364Ter)
|
rs2058953311
|
|
|
NM_000271.5(NPC1):c.1182C>A (p.Tyr394Ter)
|
|
|
|
NM_000271.5(NPC1):c.1337T>A (p.Leu446Ter)
|
rs2058929021
|
|
|
NM_000271.5(NPC1):c.1348dup (p.Ile450fs)
|
|
|
|
NM_000271.5(NPC1):c.1371T>A (p.Tyr457Ter)
|
|
|
|
NM_000271.5(NPC1):c.1642G>T (p.Gly548Ter)
|
|
|
|
NM_000271.5(NPC1):c.1731_1737del (p.Gln578fs)
|
|
|
|
NM_000271.5(NPC1):c.173T>A (p.Leu58Ter)
|
|
|
|
NM_000271.5(NPC1):c.1996_1997del (p.Ser666fs)
|
|
|
|
NM_000271.5(NPC1):c.2035_2036delinsT (p.Gly679fs)
|
|
|
|
NM_000271.5(NPC1):c.2044_2045insGTCATACACATCTG (p.Leu682fs)
|
|
|
|
NM_000271.5(NPC1):c.2046_2047del (p.Leu682fs)
|
|
|
|
NM_000271.5(NPC1):c.2086del (p.Ala696fs)
|
|
|
|
NM_000271.5(NPC1):c.2092G>T (p.Gly698Ter)
|
rs2058754064
|
|
|
NM_000271.5(NPC1):c.2146C>T (p.Gln716Ter)
|
|
|
|
NM_000271.5(NPC1):c.2174del (p.Gly725fs)
|
|
|
|
NM_000271.5(NPC1):c.2383_2384del (p.Leu795fs)
|
|
|
|
NM_000271.5(NPC1):c.2434del (p.Ala812fs)
|
|
|
|
NM_000271.5(NPC1):c.2575G>T (p.Gly859Ter)
|
rs2058698654
|
|
|
NM_000271.5(NPC1):c.2579T>A (p.Leu860Ter)
|
rs2058698544
|
|
|
NM_000271.5(NPC1):c.2670C>A (p.Tyr890Ter)
|
rs780592540
|
|
|
NM_000271.5(NPC1):c.2742C>A (p.Cys914Ter)
|
rs2058687419
|
|
|
NM_000271.5(NPC1):c.2871T>A (p.Cys957Ter)
|
|
|
|
NM_000271.5(NPC1):c.2901C>A (p.Cys967Ter)
|
rs2058679233
|
|
|
NM_000271.5(NPC1):c.2953_2954insT (p.Glu985fs)
|
rs2145366898
|
|
|
NM_000271.5(NPC1):c.29_30insGTCTCTTATACACACTG (p.Leu11fs)
|
|
|
|
NM_000271.5(NPC1):c.3017del (p.Asn1006fs)
|
|
|
|
NM_000271.5(NPC1):c.3026_3027del (p.Pro1009fs)
|
|
|
|
NM_000271.5(NPC1):c.3136C>T (p.Gln1046Ter)
|
rs1446718670
|
|
|
NM_000271.5(NPC1):c.3141_3147delinsAG (p.Ser1048fs)
|
|
|
|
NM_000271.5(NPC1):c.315_317delinsT (p.Asn106fs)
|
|
|
|
NM_000271.5(NPC1):c.3182_3183del (p.Ile1061fs)
|
|
|
|
NM_000271.5(NPC1):c.3255T>A (p.Tyr1085Ter)
|
rs774602107
|
|
|
NM_000271.5(NPC1):c.3273C>G (p.Tyr1091Ter)
|
rs1598937493
|
|
|
NM_000271.5(NPC1):c.3276_3277del (p.Thr1093fs)
|
|
|
|
NM_000271.5(NPC1):c.327T>A (p.Cys109Ter)
|
rs2059164764
|
|
|
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr)
|
rs1338658857
|
|
|
NM_000271.5(NPC1):c.3359_3360insAC (p.Leu1121fs)
|
|
|
|
NM_000271.5(NPC1):c.339T>A (p.Cys113Ter)
|
rs2059164609
|
|
|
NM_000271.5(NPC1):c.3553G>T (p.Glu1185Ter)
|
|
|
|
NM_000271.5(NPC1):c.378del (p.Glu127fs)
|
|
|
|
NM_000271.5(NPC1):c.473dup (p.Asn158fs)
|
|
|
|
NM_000271.5(NPC1):c.586A>T (p.Lys196Ter)
|
rs754653682
|
|
|
NM_000271.5(NPC1):c.608_609del (p.Phe203fs)
|
|
|
|
NM_000271.5(NPC1):c.681T>A (p.Cys227Ter)
|
rs2059021939
|
|
|
NM_000271.5(NPC1):c.718_719del (p.Cys240fs)
|
|
|
|
NM_000271.5(NPC1):c.747del (p.Lys250fs)
|
|
|
|
NM_000271.5(NPC1):c.75T>A (p.Cys25Ter)
|
|
|
|
NM_000271.5(NPC1):c.872G>A (p.Trp291Ter)
|
rs2059018297
|
|
|
NM_000271.5(NPC1):c.88G>T (p.Glu30Ter)
|
rs2059233326
|
|
|
NM_000271.5(NPC1):c.901G>T (p.Glu301Ter)
|
rs150154006
|
|
|
NM_000271.5(NPC1):c.906C>A (p.Tyr302Ter)
|
|
|
|
NM_000271.5(NPC1):c.943del (p.Ala315fs)
|
|
|
|
NM_000383.4(AIRE):c.1034_1036delinsA (p.Val345fs)
|
|
|
|
NM_000383.4(AIRE):c.1121del (p.Gly374fs)
|
|
|
|
NM_000383.4(AIRE):c.1122_1123insCTGTCTCTTATACACATCT (p.Glu375delinsLeuSerLeuIleHisIleTer)
|
|
|
|
NM_000383.4(AIRE):c.1257T>A (p.Cys419Ter)
|
rs2040561421
|
|
|
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys)
|
rs179363882
|
|
|
NM_000383.4(AIRE):c.481A>T (p.Lys161Ter)
|
rs2040495130
|
|
|
NM_000383.4(AIRE):c.487_489delinsA (p.Pro163fs)
|
|
|
|
NM_000383.4(AIRE):c.496_497insA (p.Pro166fs)
|
|
|
|
NM_000383.4(AIRE):c.619G>T (p.Glu207Ter)
|
|
|
|
NM_000383.4(AIRE):c.61del (p.Ala21fs)
|
|
|
|
NM_000383.4(AIRE):c.685del (p.Glu229fs)
|
|
|
|
NM_000383.4(AIRE):c.708_709del (p.Phe236fs)
|
|
|
|
NM_000383.4(AIRE):c.775A>T (p.Lys259Ter)
|
|
|
|
NM_000383.4(AIRE):c.868del (p.Gln290fs)
|
rs2146379725
|
|
|
NM_000383.4(AIRE):c.880A>T (p.Lys294Ter)
|
rs2040534254
|
|
|
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)
|
rs386833675
|
|
|
NM_000543.5(SMPD1):c.1118del (p.Pro373fs)
|
|
|
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NM_000543.5(SMPD1):c.1152del (p.Met384fs)
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NM_000543.5(SMPD1):c.168_169del (p.Trp56fs)
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NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del)
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rs120074118
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NM_000543.5(SMPD1):c.295_296del (p.Thr99fs)
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NM_000543.5(SMPD1):c.448_449insTAGGAAGCCGTAAA (p.Arg150fs)
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NM_000543.5(SMPD1):c.450_453delinsTCTCCTTT (p.Ser151fs)
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NM_000543.5(SMPD1):c.451_452del (p.Val152fs)
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NM_000543.5(SMPD1):c.722del (p.Pro241fs)
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NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)
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rs202081954
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NM_000543.5(SMPD1):c.996del (p.Phe333fs)
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rs387906289
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NM_006432.5(NPC2):c.142C>T (p.Gln48Ter)
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rs2086712538
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NM_006432.5(NPC2):c.148_149del (p.Ser50fs)
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NM_006432.5(NPC2):c.154G>T (p.Gly52Ter)
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NM_006432.5(NPC2):c.184_185del (p.Thr62fs)
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NM_006432.5(NPC2):c.218del (p.Val73fs)
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NM_006432.5(NPC2):c.249_250insAATTCCA (p.Pro84fs)
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NM_006432.5(NPC2):c.297C>A (p.Cys99Ter)
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rs2086687936
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NM_006432.5(NPC2):c.304C>T (p.Gln102Ter)
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rs2086687862
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NM_006432.5(NPC2):c.334A>T (p.Lys112Ter)
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rs2086687425
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NM_006432.5(NPC2):c.336_339delinsCTT (p.Lys112fs)
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NM_006432.5(NPC2):c.357T>A (p.Tyr119Ter)
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rs2086687086
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NM_006432.5(NPC2):c.64_65delinsCTCACC (p.Val22fs)
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NM_006432.5(NPC2):c.91del (p.Asp31fs)
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NM_152564.5(VPS13B):c.10282C>T (p.Gln3428Ter)
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NM_152564.5(VPS13B):c.10661T>A (p.Leu3554Ter)
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NM_152564.5(VPS13B):c.10675A>T (p.Lys3559Ter)
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NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs)
|
rs1180933570
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NM_152564.5(VPS13B):c.1275T>A (p.Cys425Ter)
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NM_152564.5(VPS13B):c.1564G>T (p.Glu522Ter)
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NM_152564.5(VPS13B):c.1944T>A (p.Cys648Ter)
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NM_152564.5(VPS13B):c.2221C>T (p.Gln741Ter)
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NM_152564.5(VPS13B):c.2908A>T (p.Lys970Ter)
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NM_152564.5(VPS13B):c.2980A>T (p.Lys994Ter)
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NM_152564.5(VPS13B):c.3154A>T (p.Arg1052Ter)
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NM_152564.5(VPS13B):c.3160A>T (p.Lys1054Ter)
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NM_152564.5(VPS13B):c.3172G>T (p.Gly1058Ter)
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NM_152564.5(VPS13B):c.3309G>A (p.Trp1103Ter)
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NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs)
|
rs180177327
|
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NM_152564.5(VPS13B):c.3439G>T (p.Glu1147Ter)
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|
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NM_152564.5(VPS13B):c.4119T>A (p.Cys1373Ter)
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NM_152564.5(VPS13B):c.4319T>A (p.Leu1440Ter)
|
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NM_152564.5(VPS13B):c.4445T>A (p.Leu1482Ter)
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NM_152564.5(VPS13B):c.4471C>T (p.Gln1491Ter)
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NM_152564.5(VPS13B):c.4556T>A (p.Leu1519Ter)
|
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NM_152564.5(VPS13B):c.4867A>T (p.Lys1623Ter)
|
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NM_152564.5(VPS13B):c.5829T>A (p.Cys1943Ter)
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NM_152564.5(VPS13B):c.6473C>G (p.Ser2158Ter)
|
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NM_152564.5(VPS13B):c.6505A>T (p.Lys2169Ter)
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NM_152564.5(VPS13B):c.6552T>A (p.Cys2184Ter)
|
|
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NM_152564.5(VPS13B):c.6865+1G>T
|
rs202046738
|
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NM_152564.5(VPS13B):c.7177A>T (p.Lys2393Ter)
|
|
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NM_152564.5(VPS13B):c.7317T>A (p.Cys2439Ter)
|
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NM_152564.5(VPS13B):c.7480G>T (p.Glu2494Ter)
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NM_152564.5(VPS13B):c.9394A>T (p.Lys3132Ter)
|
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NM_152564.5(VPS13B):c.9739A>T (p.Lys3247Ter)
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