ClinVar Miner

List of variants reported as pathogenic for agranulocytosis by Invitae

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1033
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter) rs138156467 0.00026
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00026
NM_006118.4(HAX1):c.91del (p.Glu31fs) rs764082747 0.00026
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys) rs80356490 0.00008
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter) rs144539572 0.00008
NM_138387.4(G6PC3):c.778G>C (p.Gly260Arg) rs200478425 0.00006
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter) rs146960401 0.00006
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636 0.00006
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter) rs121908979 0.00004
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter) rs120074151 0.00004
NM_000760.4(CSF3R):c.1388G>A (p.Trp463Ter) rs374536805 0.00003
NM_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu) rs193302892 0.00003
NM_001972.4(ELANE):c.659G>A (p.Arg220Gln) rs137854445 0.00003
NM_138387.4(G6PC3):c.207dup (p.Ile70fs) rs1191239079 0.00003
NM_138387.4(G6PC3):c.565C>T (p.Arg189Ter) rs745582203 0.00003
NM_138387.4(G6PC3):c.765_766del (p.Ala257fs) rs748931188 0.00003
NM_152564.5(VPS13B):c.4569T>A (p.Tyr1523Ter) rs1361356353 0.00003
NM_001164277.2(SLC37A4):c.1179G>A (p.Trp393Ter) rs902775927 0.00002
NM_001164277.2(SLC37A4):c.460del (p.Ile154fs) rs769726248 0.00002
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter) rs781784543 0.00002
NM_006118.4(HAX1):c.256C>T (p.Arg86Ter) rs121908165 0.00002
NM_138387.4(G6PC3):c.829C>T (p.Gln277Ter) rs148559256 0.00002
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter) rs386834061 0.00002
NM_152564.5(VPS13B):c.1504C>T (p.Arg502Ter) rs180177354 0.00002
NM_152564.5(VPS13B):c.1915C>T (p.Arg639Ter) rs764776104 0.00002
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter) rs386834078 0.00002
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201 0.00002
NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs) rs786204533 0.00002
NM_152564.5(VPS13B):c.5334del (p.Arg1779fs) rs763909903 0.00002
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter) rs180177365 0.00002
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter) rs386834113 0.00002
NM_183235.3(RAB27A):c.227C>T (p.Ala76Val) rs766632505 0.00002
NM_183235.3(RAB27A):c.239+1G>T rs761810607 0.00002
NM_183235.3(RAB27A):c.239G>C (p.Arg80Thr) rs765369750 0.00002
NM_000081.4(LYST):c.1507C>T (p.Arg503Ter) rs1558282769 0.00001
NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter) rs80338652 0.00001
NM_000377.3(WAS):c.223G>A (p.Val75Met) rs782290433 0.00001
NM_000760.4(CSF3R):c.340C>T (p.Gln114Ter) rs756667927 0.00001
NM_000760.4(CSF3R):c.799del (p.Glu267fs) rs759302795 0.00001
NM_001164277.2(SLC37A4):c.110C>A (p.Ser37Ter) rs1444468055 0.00001
NM_001164277.2(SLC37A4):c.1124+1G>T rs782630676 0.00001
NM_001164277.2(SLC37A4):c.1A>G (p.Met1Val) rs786204740 0.00001
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter) rs121908976 0.00001
NM_001164277.2(SLC37A4):c.340C>T (p.Gln114Ter) rs782313064 0.00001
NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg) rs80356489 0.00001
NM_001164277.2(SLC37A4):c.381+2T>G rs782645078 0.00001
NM_001164277.2(SLC37A4):c.443C>T (p.Ala148Val) rs193302879 0.00001
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg) rs193302883 0.00001
NM_001164277.2(SLC37A4):c.458C>T (p.Pro153Leu) rs193302890 0.00001
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp) rs193302881 0.00001
NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter) rs551439289 0.00001
NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys) rs193302889 0.00001
NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys) rs193302882 0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His) rs121908978 0.00001
NM_001164277.2(SLC37A4):c.936dup (p.Val313fs) rs782172072 0.00001
NM_006118.4(HAX1):c.337G>T (p.Glu113Ter) rs374758765 0.00001
NM_006118.4(HAX1):c.407del (p.His136fs) rs748595772 0.00001
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter) rs559590419 0.00001
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter) rs765998879 0.00001
NM_017890.5(VPS13B):c.4246C>T (p.Arg1416Ter) rs145741622 0.00001
NM_138387.4(G6PC3):c.210del (p.Phe71fs) rs769441127 0.00001
NM_138387.4(G6PC3):c.218+1G>A rs772298089 0.00001
NM_138387.4(G6PC3):c.758G>A (p.Arg253His) rs118203968 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_152564.5(VPS13B):c.11131C>T (p.Gln3711Ter) rs1451352816 0.00001
NM_152564.5(VPS13B):c.11216-1G>C rs1057517441 0.00001
NM_152564.5(VPS13B):c.11364del (p.Ala3789fs) rs1485428182 0.00001
NM_152564.5(VPS13B):c.1141C>T (p.Gln381Ter) rs774376104 0.00001
NM_152564.5(VPS13B):c.11501del (p.Met3834fs) rs1394681818 0.00001
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs) rs747217399 0.00001
NM_152564.5(VPS13B):c.11746-1G>A rs372327659 0.00001
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter) rs933746831 0.00001
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356 0.00001
NM_152564.5(VPS13B):c.2911C>T (p.Arg971Ter) rs120074152 0.00001
NM_152564.5(VPS13B):c.3022C>T (p.Gln1008Ter) rs567092790 0.00001
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080 0.00001
NM_152564.5(VPS13B):c.3984G>A (p.Trp1328Ter) rs1156390688 0.00001
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter) rs386834086 0.00001
NM_152564.5(VPS13B):c.4745+1G>A rs1469729130 0.00001
NM_152564.5(VPS13B):c.5011C>T (p.Arg1671Ter) rs386834093 0.00001
NM_152564.5(VPS13B):c.5515C>T (p.Gln1839Ter) rs1057516633 0.00001
NM_152564.5(VPS13B):c.5539_5540del (p.Lys1847fs) rs1829394659 0.00001
NM_152564.5(VPS13B):c.5678_5679del (p.Leu1893fs) rs886041586 0.00001
NM_152564.5(VPS13B):c.5752C>T (p.Arg1918Ter) rs386834099 0.00001
NM_152564.5(VPS13B):c.5772dup (p.Gln1925fs) rs754016783 0.00001
NM_152564.5(VPS13B):c.6077T>A (p.Leu2026Ter) rs1293372026 0.00001
NM_152564.5(VPS13B):c.6125T>A (p.Leu2042Ter) rs371364257 0.00001
NM_152564.5(VPS13B):c.6295_6296del (p.Met2099fs) rs748404277 0.00001
NM_152564.5(VPS13B):c.6976C>T (p.Arg2326Ter) rs120074150 0.00001
NM_152564.5(VPS13B):c.7429+1G>A rs386834106 0.00001
NM_152564.5(VPS13B):c.7528C>T (p.Arg2510Ter) rs386834107 0.00001
NM_152564.5(VPS13B):c.7968G>A (p.Trp2656Ter) rs766484806 0.00001
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter) rs386834110 0.00001
NM_152564.5(VPS13B):c.8397G>A (p.Trp2799Ter) rs386834112 0.00001
NM_152564.5(VPS13B):c.8827C>T (p.Arg2943Ter) rs755996065 0.00001
NM_183235.3(RAB27A):c.149del (p.Arg50fs) rs770601673 0.00001
NM_183235.3(RAB27A):c.400_401del (p.Lys134fs) rs755338751 0.00001
NC_000001.10:g.(?_153963273)_(154580482_?)del
NC_000001.10:g.(?_235826240)_(235976381_?)del
NC_000001.10:g.(?_235827745)_(235827941_?)del
NC_000001.11:g.(?_235662920)_(235782107_?)del
NC_000005.10:g.(?_78089373)_(78141339_?)del
NC_000005.9:g.(?_76115008)_(78281071_?)del
NC_000008.10:g.(?_100025484)_(100026173_?)del
NC_000008.10:g.(?_100026017)_(100026183_?)del
NC_000008.10:g.(?_100026017)_(100887894_?)del
NC_000008.10:g.(?_100050631)_(100115368_?)del
NC_000008.10:g.(?_100108530)_(100128112_?)del
NC_000008.10:g.(?_100108530)_(100155403_?)dup
NC_000008.10:g.(?_100108530)_(100182401_?)del
NC_000008.10:g.(?_100108530)_(100205295_?)del
NC_000008.10:g.(?_100108530)_(100287492_?)del
NC_000008.10:g.(?_100108530)_(100494040_?)del
NC_000008.10:g.(?_100123306)_(100182411_?)del
NC_000008.10:g.(?_100123306)_(100403952_?)del
NC_000008.10:g.(?_100123316)_(100123517_?)del
NC_000008.10:g.(?_100133395)_(100134000_?)del
NC_000008.10:g.(?_100146850)_(100221906_?)del
NC_000008.10:g.(?_100146850)_(100287492_?)del
NC_000008.10:g.(?_100146850)_(100533248_?)del
NC_000008.10:g.(?_100147223)_(100155413_?)del
NC_000008.10:g.(?_100155192)_(100287492_?)del
NC_000008.10:g.(?_100160049)_(100160258_?)del
NC_000008.10:g.(?_100160049)_(100168991_?)del
NC_000008.10:g.(?_100182257)_(100221906_?)del
NC_000008.10:g.(?_100182257)_(100479872_?)del
NC_000008.10:g.(?_100205084)_(100454883_?)del
NC_000008.10:g.(?_100205094)_(100287492_?)del
NC_000008.10:g.(?_100205094)_(100733285_?)del
NC_000008.10:g.(?_100286406)_(100494050_?)del
NC_000008.10:g.(?_100286406)_(100520159_?)del
NC_000008.10:g.(?_100286406)_(100523760_?)del
NC_000008.10:g.(?_100286406)_(100874194_?)del
NC_000008.10:g.(?_100286416)_(100454873_?)del
NC_000008.10:g.(?_100286416)_(100568891_?)del
NC_000008.10:g.(?_100286416)_(100673729_?)del
NC_000008.10:g.(?_100286416)_(100821768_?)del
NC_000008.10:g.(?_100396416)_(100396565_?)del
NC_000008.10:g.(?_100396416)_(100443912_?)del
NC_000008.10:g.(?_100396426)_(100403942_?)del
NC_000008.10:g.(?_100396426)_(100454873_?)del
NC_000008.10:g.(?_100396426)_(100523750_?)del
NC_000008.10:g.(?_100396426)_(100589871_?)del
NC_000008.10:g.(?_100403765)_(100403952_?)del
NC_000008.10:g.(?_100443745)_(100443912_?)del
NC_000008.10:g.(?_100443745)_(100589881_?)del
NC_000008.10:g.(?_100443755)_(100568891_?)del
NC_000008.10:g.(?_100454619)_(100533248_?)del
NC_000008.10:g.(?_100454619)_(100673729_?)del
NC_000008.10:g.(?_100479622)_(100533258_?)del
NC_000008.10:g.(?_100479622)_(100589881_?)del
NC_000008.10:g.(?_100479632)_(100494040_?)del
NC_000008.10:g.(?_100493807)_(100533258_?)del
NC_000008.10:g.(?_100493807)_(100729621_?)del
NC_000008.10:g.(?_100493817)_(100588022_?)del
NC_000008.10:g.(?_100513905)_(100514096_?)del
NC_000008.10:g.(?_100533107)_(100588032_?)del
NC_000008.10:g.(?_100533107)_(100733295_?)del
NC_000008.10:g.(?_100533117)_(100568891_?)del
NC_000008.10:g.(?_100568668)_(100568891_?)del
NC_000008.10:g.(?_100568668)_(100589871_?)del
NC_000008.10:g.(?_100568668)_(100654736_?)del
NC_000008.10:g.(?_100568668)_(100673729_?)del
NC_000008.10:g.(?_100587866)_(100589881_?)dup
NC_000008.10:g.(?_100654019)_(100673739_?)del
NC_000008.10:g.(?_100654029)_(100654736_?)del
NC_000008.10:g.(?_100654029)_(100673729_?)del
NC_000008.10:g.(?_100654029)_(100712170_?)del
NC_000008.10:g.(?_100654029)_(100733285_?)del
NC_000008.10:g.(?_100711733)_(100796724_?)del
NC_000008.10:g.(?_100778992)_(100779208_?)del
NC_000008.10:g.(?_100830669)_(100833720_?)del
NC_000008.10:g.(?_100860984)_(100866504_?)del
NC_000008.10:g.(?_100883666)_(100883935_?)del
NC_000008.11:g.(?_99013769)_(99209688_?)del
NC_000008.11:g.(?_99096292)_(99193077_?)del
NC_000008.11:g.(?_99096292)_(99577653_?)del
NC_000008.11:g.(?_99096302)_(99136762_?)del
NC_000008.11:g.(?_99096302)_(99556663_?)del
NC_000008.11:g.(?_99102953)_(99170163_?)del
NC_000008.11:g.(?_99111088)_(99170173_?)del
NC_000008.11:g.(?_99115680)_(99193077_?)del
NC_000008.11:g.(?_99121157)_(99193077_?)del
NC_000008.11:g.(?_99121167)_(99721057_?)del
NC_000008.11:g.(?_99134612)_(99136772_?)del
NC_000008.11:g.(?_99135005)_(99143175_?)del
NC_000008.11:g.(?_99135015)_(99143165_?)del
NC_000008.11:g.(?_99170039)_(99170163_?)del
NC_000008.11:g.(?_99209572)_(99391724_?)del
NC_000008.11:g.(?_99274178)_(99577653_?)del
NC_000008.11:g.(?_99274178)_(99721067_?)del
NC_000008.11:g.(?_99384188)_(99511532_?)del
NC_000008.11:g.(?_99391537)_(99521030_?)del
NC_000008.11:g.(?_99391557)_(99556653_?)del
NC_000008.11:g.(?_99431517)_(99721067_?)del
NC_000008.11:g.(?_99467404)_(99521020_?)del
NC_000008.11:g.(?_99481579)_(99721067_?)del
NC_000008.11:g.(?_99501677)_(99502960_?)del
NC_000008.11:g.(?_99520889)_(99521020_?)del
NC_000008.11:g.(?_99520899)_(99584089_?)del
NC_000008.11:g.(?_99556430)_(99577653_?)del
NC_000008.11:g.(?_99556430)_(99642518_?)del
NC_000008.11:g.(?_99661334)_(99661511_?)del
NC_000008.11:g.(?_99661344)_(99784486_?)del
NC_000011.10:g.(?_119024900)_(119029379_?)del
NC_000011.10:g.(?_119028174)_(119029389_?)del
NC_000011.9:g.(?_118899922)_(118900089_?)del
NC_000015.10:g.(?_55223869)_(55224032_?)del
NC_000015.10:g.(?_55223869)_(55234954_?)del
NC_000015.10:g.(?_55228589)_(55234954_?)del
NC_000015.10:g.(?_55234762)_(55234954_?)del
NC_000015.10:g.55224013del
NC_000015.9:g.(?_55497685)_(55527152_?)del
NC_000015.9:g.(?_55526960)_(55613608_?)del
NC_000017.10:g.(?_42151508)_(42153411_?)del
NC_000023.10:g.(?_152014869)_(155171615_?)del
NC_000023.10:g.(?_153639844)_(153642537_?)del
NC_000023.10:g.(?_153640161)_(153649363_?)del
NC_000023.10:g.(?_153647872)_(153650075_?)del
NC_000023.10:g.(?_46618120)_(48549553_?)del
NC_000023.10:g.(?_48542233)_(48542384_?)del
NM_000081.4(LYST):c.10027C>T (p.Gln3343Ter)
NM_000081.4(LYST):c.10062_10063del (p.Ile3354fs)
NM_000081.4(LYST):c.10083del (p.Phe3362fs)
NM_000081.4(LYST):c.10153G>T (p.Gly3385Ter)
NM_000081.4(LYST):c.10206del (p.Thr3402_Met3403insTer)
NM_000081.4(LYST):c.10345C>T (p.Arg3449Ter) rs754616030
NM_000081.4(LYST):c.10360G>T (p.Glu3454Ter)
NM_000081.4(LYST):c.10568_10569del (p.Val3523fs)
NM_000081.4(LYST):c.10601C>A (p.Ser3534Ter)
NM_000081.4(LYST):c.10654del (p.Gln3552fs)
NM_000081.4(LYST):c.106G>T (p.Glu36Ter)
NM_000081.4(LYST):c.1082_1083insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCTCTAGAGCAGCTTT (p.Leu361delinsPhePhePhePhePhePhePheXaaXaaXaaXaaValPheCysValAlaHisAlaGlySerCysArgProGluLeuPheLeuPheGlyHisLeuGlySerSerLeuTer)
NM_000081.4(LYST):c.11002G>T (p.Glu3668Ter)
NM_000081.4(LYST):c.1189A>T (p.Arg397Ter)
NM_000081.4(LYST):c.1202T>G (p.Leu401Ter)
NM_000081.4(LYST):c.130C>T (p.Gln44Ter)
NM_000081.4(LYST):c.1361G>A (p.Trp454Ter)
NM_000081.4(LYST):c.1391del (p.Glu464fs)
NM_000081.4(LYST):c.1406T>A (p.Leu469Ter)
NM_000081.4(LYST):c.1467del (p.Glu489fs) rs80338644
NM_000081.4(LYST):c.1492A>T (p.Arg498Ter)
NM_000081.4(LYST):c.1540C>T (p.Arg514Ter) rs80338645
NM_000081.4(LYST):c.1592dup (p.Asn531fs)
NM_000081.4(LYST):c.1599dup (p.Glu534Ter)
NM_000081.4(LYST):c.1758_1761dup (p.Pro588fs)
NM_000081.4(LYST):c.1897A>T (p.Lys633Ter)
NM_000081.4(LYST):c.1902dup (p.Ala635fs) rs80338646
NM_000081.4(LYST):c.192+1G>A
NM_000081.4(LYST):c.192+2T>C
NM_000081.4(LYST):c.2015dup (p.Tyr672Ter)
NM_000081.4(LYST):c.2016C>A (p.Tyr672Ter)
NM_000081.4(LYST):c.2158C>T (p.Gln720Ter)
NM_000081.4(LYST):c.236_237del (p.Leu79fs)
NM_000081.4(LYST):c.2413G>T (p.Glu805Ter)
NM_000081.4(LYST):c.2413del (p.Glu805fs) rs80338647
NM_000081.4(LYST):c.2437C>T (p.Arg813Ter)
NM_000081.4(LYST):c.244dup (p.Leu82fs)
NM_000081.4(LYST):c.2540del (p.Lys847fs)
NM_000081.4(LYST):c.2730_2734del (p.Ser910fs)
NM_000081.4(LYST):c.2832del (p.Ser945fs)
NM_000081.4(LYST):c.2962C>T (p.Arg988Ter)
NM_000081.4(LYST):c.3085C>T (p.Gln1029Ter) rs80338651
NM_000081.4(LYST):c.3301_3302insCAGGATTTAAACAGAATTTCTCAACCTAAGAGAACTATGAAGGAAGATTTATTATCTTTGGCTATAA (p.Gln1101delinsProGlyPheLysGlnAsnPheSerThrTer)
NM_000081.4(LYST):c.3433del (p.His1145fs)
NM_000081.4(LYST):c.3574G>T (p.Glu1192Ter)
NM_000081.4(LYST):c.3601del (p.Ser1201fs)
NM_000081.4(LYST):c.3736_3737del (p.Glu1246fs)
NM_000081.4(LYST):c.3770T>A (p.Leu1257Ter)
NM_000081.4(LYST):c.3817_3821dup (p.Glu1275fs)
NM_000081.4(LYST):c.3910del (p.Glu1304fs)
NM_000081.4(LYST):c.3996del (p.Asp1333fs)
NM_000081.4(LYST):c.4264del (p.Ala1422fs)
NM_000081.4(LYST):c.4288C>T (p.Arg1430Ter) rs1468055437
NM_000081.4(LYST):c.4322_4325del (p.Glu1441fs)
NM_000081.4(LYST):c.433C>T (p.Arg145Ter)
NM_000081.4(LYST):c.4434G>A (p.Trp1478Ter)
NM_000081.4(LYST):c.4469del (p.Thr1490fs)
NM_000081.4(LYST):c.4479del (p.Gly1494fs)
NM_000081.4(LYST):c.4498_4502del (p.Arg1500fs)
NM_000081.4(LYST):c.4900A>T (p.Lys1634Ter)
NM_000081.4(LYST):c.4978C>T (p.Gln1660Ter)
NM_000081.4(LYST):c.5351_5352insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGAGCATCTT (p.Leu1784delinsPhePhePhePhePhePhePheXaaXaaXaaXaaSerTer)
NM_000081.4(LYST):c.5491C>T (p.Gln1831Ter)
NM_000081.4(LYST):c.5506C>T (p.Arg1836Ter)
NM_000081.4(LYST):c.5519C>G (p.Ser1840Ter)
NM_000081.4(LYST):c.575del (p.Phe191_Leu192insTer)
NM_000081.4(LYST):c.575dup (p.Leu192fs)
NM_000081.4(LYST):c.5785C>T (p.Gln1929Ter)
NM_000081.4(LYST):c.5881C>T (p.Gln1961Ter)
NM_000081.4(LYST):c.5956C>T (p.Arg1986Ter)
NM_000081.4(LYST):c.6077dup (p.Tyr2026Ter)
NM_000081.4(LYST):c.6078C>G (p.Tyr2026Ter)
NM_000081.4(LYST):c.6187del (p.Arg2063fs)
NM_000081.4(LYST):c.6283C>T (p.Gln2095Ter)
NM_000081.4(LYST):c.6397C>T (p.Gln2133Ter)
NM_000081.4(LYST):c.6676C>T (p.Arg2226Ter)
NM_000081.4(LYST):c.6862C>T (p.Arg2288Ter)
NM_000081.4(LYST):c.7135dup (p.Leu2379fs)
NM_000081.4(LYST):c.713_714insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGGGCGCGGACGGGGAGCCGGGCCCGGAGCCGCCGTCACGGCCGCGACCGCCCCGCGGGGCCGGCCTGGGCCGCGCTCAAACACTGACATTTT (p.Ile237_Leu238insPhePhePhePhePhePhePheXaaXaaXaaXaaGlyArgGlyArgGlyAlaGlyProGlyAlaAlaValThrAlaAlaThrAlaProArgGlyArgProGlyProArgSerAsnThrAspIle)
NM_000081.4(LYST):c.7168C>T (p.Gln2390Ter)
NM_000081.4(LYST):c.7499del (p.Ile2500fs)
NM_000081.4(LYST):c.7786C>T (p.Arg2596Ter)
NM_000081.4(LYST):c.8080C>T (p.Gln2694Ter)
NM_000081.4(LYST):c.8122dup (p.Tyr2708fs)
NM_000081.4(LYST):c.8373_8376del (p.Leu2791fs)
NM_000081.4(LYST):c.8425dup (p.Glu2809fs)
NM_000081.4(LYST):c.8536-1G>A
NM_000081.4(LYST):c.8668_8669dup (p.Thr2891fs)
NM_000081.4(LYST):c.8691_8692del (p.Gln2898fs)
NM_000081.4(LYST):c.8760del (p.Ser2920fs)
NM_000081.4(LYST):c.8869C>T (p.Arg2957Ter)
NM_000081.4(LYST):c.9143del (p.Ser3048fs)
NM_000081.4(LYST):c.9219_9222del (p.Glu3074fs)
NM_000081.4(LYST):c.9239G>A (p.Trp3080Ter)
NM_000081.4(LYST):c.9245dup (p.Leu3082fs)
NM_000081.4(LYST):c.925C>T (p.Arg309Ter)
NM_000081.4(LYST):c.934del (p.Ser312fs)
NM_000081.4(LYST):c.9377_9389del (p.Gly3126fs)
NM_000081.4(LYST):c.9434_9435dup (p.Leu3146fs)
NM_000081.4(LYST):c.9449del (p.Asn3150fs)
NM_000081.4(LYST):c.9463C>T (p.Arg3155Ter)
NM_000081.4(LYST):c.9600del (p.Glu3201fs)
NM_000081.4(LYST):c.9612T>G (p.Tyr3204Ter)
NM_000081.4(LYST):c.973dup (p.Arg325fs)
NM_000081.4(LYST):c.9838C>T (p.Arg3280Ter)
NM_000081.4(LYST):c.985C>T (p.Arg329Ter)
NM_000081.4(LYST):c.9874G>T (p.Glu3292Ter)
NM_000081.4(LYST):c.9893del (p.Phe3298fs) rs80338668
NM_000081.4(LYST):c.9961dup (p.Val3321fs)
NM_000081.4(LYST):c.9988del (p.Ala3330fs)
NM_000116.5(TAFAZZIN):c.109+5G>A rs2148185111
NM_000116.5(TAFAZZIN):c.110-2A>G rs1603376833
NM_000116.5(TAFAZZIN):c.129del (p.Val44fs) rs2148186224
NM_000116.5(TAFAZZIN):c.153C>A (p.Tyr51Ter)
NM_000116.5(TAFAZZIN):c.238+1del
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys) rs104894942
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His) rs1060500044
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu) rs1060500044
NM_000116.5(TAFAZZIN):c.293_294insTTAGGACCCC (p.Ala98_Ala99insTer) rs2148191858
NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter) rs1569552731
NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter) rs1603377945
NM_000116.5(TAFAZZIN):c.536del (p.Pro179fs)
NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val)
NM_000116.5(TAFAZZIN):c.562G>T (p.Glu188Ter)
NM_000116.5(TAFAZZIN):c.575del (p.Phe192fs)
NM_000116.5(TAFAZZIN):c.582G>A (p.Trp194Ter) rs794729167
NM_000116.5(TAFAZZIN):c.586del (p.Ile196fs)
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg) rs132630277
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg) rs1085307797
NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter) rs1603381860
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg) rs387907218
NM_000377.3(WAS):c.-37_132+35del rs1602176146
NM_000377.3(WAS):c.1001del (p.Gly334fs) rs1569494025
NM_000377.3(WAS):c.1001dup (p.Gly334_Asn335insTer) rs1569494025
NM_000377.3(WAS):c.100C>T (p.Arg34Ter) rs132630271
NM_000377.3(WAS):c.1021_1022insT (p.Pro341fs) rs2147266379
NM_000377.3(WAS):c.1040dup (p.Leu347fs)
NM_000377.3(WAS):c.1058dup (p.Pro354fs) rs1557007165
NM_000377.3(WAS):c.1073dup (p.Pro359fs)
NM_000377.3(WAS):c.1085del (p.Pro362fs) rs2147266474
NM_000377.3(WAS):c.1090C>T (p.Arg364Ter) rs2062429013
NM_000377.3(WAS):c.1157del (p.Pro386fs) rs886041379
NM_000377.3(WAS):c.11del (p.Gly4fs) rs587776745
NM_000377.3(WAS):c.1203del (p.Pro402fs)
NM_000377.3(WAS):c.121C>T (p.Arg41Ter) rs11545907
NM_000377.3(WAS):c.1221del (p.Asn408fs)
NM_000377.3(WAS):c.1266del (p.Gly424fs)
NM_000377.3(WAS):c.1271del (p.Gly424fs)
NM_000377.3(WAS):c.1271dup (p.Leu425fs) rs1557007312
NM_000377.3(WAS):c.1318C>T (p.Gln440Ter)
NM_000377.3(WAS):c.134C>T (p.Thr45Met) rs132630273
NM_000377.3(WAS):c.1453+2T>G rs2147267350
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn) rs1064793293
NM_000377.3(WAS):c.167C>T (p.Ala56Val) rs132630269
NM_000377.3(WAS):c.172C>A (p.Pro58Thr) rs2062412365
NM_000377.3(WAS):c.176del (p.Pro59fs) rs2147262809
NM_000377.3(WAS):c.192G>A (p.Trp64Ter) rs2147262855
NM_000377.3(WAS):c.19_41del (p.Gly7fs)
NM_000377.3(WAS):c.238C>T (p.Gln80Ter) rs2062412730
NM_000377.3(WAS):c.256C>T (p.Arg86Cys) rs2062412810
NM_000377.3(WAS):c.256del (p.Arg86fs)
NM_000377.3(WAS):c.257G>A (p.Arg86His) rs132630268
NM_000377.3(WAS):c.264C>A (p.Tyr88Ter)
NM_000377.3(WAS):c.271C>T (p.Gln91Ter) rs1557006354
NM_000377.3(WAS):c.295del (p.Gln99fs)
NM_000377.3(WAS):c.302T>C (p.Leu101Pro)
NM_000377.3(WAS):c.302_303insC (p.Tyr102fs) rs2062416187
NM_000377.3(WAS):c.311_312insAA (p.Leu105fs) rs2062416272
NM_000377.3(WAS):c.319T>C (p.Tyr107His)
NM_000377.3(WAS):c.355G>T (p.Gly119Ter) rs1602177243
NM_000377.3(WAS):c.35dup (p.Arg13fs) rs2062410421
NM_000377.3(WAS):c.360+1G>A rs1057520700
NM_000377.3(WAS):c.361-1G>C
NM_000377.3(WAS):c.37C>T (p.Arg13Ter) rs193922415
NM_000377.3(WAS):c.382T>C (p.Phe128Leu) rs2147263906
NM_000377.3(WAS):c.383T>C (p.Phe128Ser)
NM_000377.3(WAS):c.399G>T (p.Glu133Asp)
NM_000377.3(WAS):c.401C>T (p.Ala134Val)
NM_000377.3(WAS):c.412dup (p.Arg138fs)
NM_000377.3(WAS):c.436del (p.Gln146fs) rs2062417558
NM_000377.3(WAS):c.451_452del (p.Arg151fs)
NM_000377.3(WAS):c.466del (p.Arg156fs)
NM_000377.3(WAS):c.470_471del (p.Arg157fs) rs1602177562
NM_000377.3(WAS):c.539dup (p.His180fs) rs2147264299
NM_000377.3(WAS):c.559+5G>A rs886039451
NM_000377.3(WAS):c.58C>T (p.Gln20Ter)
NM_000377.3(WAS):c.619_623del (p.Ile207fs)
NM_000377.3(WAS):c.631C>T (p.Arg211Ter) rs1602178165
NM_000377.3(WAS):c.660_664del (p.Ser221_Pro222insTer) rs1602178184
NM_000377.3(WAS):c.692del (p.Lys231fs) rs2062422078
NM_000377.3(WAS):c.701del (p.Ser234fs)
NM_000377.3(WAS):c.723del (p.Ser242fs) rs2147264981
NM_000377.3(WAS):c.734+1G>C
NM_000377.3(WAS):c.734+2T>A rs1569493877
NM_000377.3(WAS):c.735-2A>T
NM_000377.3(WAS):c.753dup (p.Trp252fs) rs2147265693
NM_000377.3(WAS):c.777+1G>A rs1057517845
NM_000377.3(WAS):c.778-6G>A rs1557007011
NM_000377.3(WAS):c.803delinsTT (p.Arg268fs) rs1602178952
NM_000377.3(WAS):c.809T>C (p.Leu270Pro) rs132630274
NM_000377.3(WAS):c.827_828insGGGCCTTCTCCAGGGCAGGAAT (p.Ile276fs) rs2147265917
NM_000377.3(WAS):c.82C>T (p.Gln28Ter)
NM_000377.3(WAS):c.858del (p.Ser287fs) rs1602179000
NM_000377.3(WAS):c.881T>C (p.Ile294Thr) rs387906717
NM_000377.3(WAS):c.91G>A (p.Glu31Lys) rs1557006239
NM_000377.3(WAS):c.961C>T (p.Arg321Ter) rs1557007123
NM_000377.3(WAS):c.964G>T (p.Gly322Ter)
NM_000377.3(WAS):c.969del (p.Asn324fs)
NM_000760.4(CSF3R):c.1003del (p.Thr335fs)
NM_000760.4(CSF3R):c.1072-1G>A
NM_000760.4(CSF3R):c.1072-1G>C rs992318824
NM_000760.4(CSF3R):c.1105C>T (p.Gln369Ter)
NM_000760.4(CSF3R):c.1216dup (p.Val406fs) rs890101650
NM_000760.4(CSF3R):c.1233_1234dup (p.Asn412fs)
NM_000760.4(CSF3R):c.1404del (p.Ser469fs) rs747437399
NM_000760.4(CSF3R):c.1488del (p.Gln498fs)
NM_000760.4(CSF3R):c.1525C>T (p.Gln509Ter) rs1236469336
NM_000760.4(CSF3R):c.203_221del (p.Glu68fs) rs757401069
NM_000760.4(CSF3R):c.218dup (p.Arg74fs) rs765536522
NM_000760.4(CSF3R):c.296_299del (p.Leu99fs)
NM_000760.4(CSF3R):c.32G>A (p.Trp11Ter) rs2124152665
NM_000760.4(CSF3R):c.642_650delinsTTGATCCCATGGATGTTGGTGTCTTGATCCCATGGATGTTG (p.Pro215_Leu217delinsTer) rs2124127693
NM_000760.4(CSF3R):c.690dup (p.Met231fs)
NM_000760.4(CSF3R):c.769C>T (p.Gln257Ter)
NM_000760.4(CSF3R):c.78C>A (p.Cys26Ter) rs767458386
NM_000760.4(CSF3R):c.836G>A (p.Trp279Ter) rs1650834725
NM_000760.4(CSF3R):c.935_963del (p.Arg311_Trp312insTer) rs1570588220
NM_001164277.1(SLC37A4):c.529_533del rs2089891548
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp) rs121908980
NM_001164277.2(SLC37A4):c.1019_1038del (p.Phe340fs) rs1943525176
NM_001164277.2(SLC37A4):c.1028_1036delinsTGCCTCG (p.Tyr343fs)
NM_001164277.2(SLC37A4):c.1049_1052del (p.Gly350fs) rs2134628172
NM_001164277.2(SLC37A4):c.1063G>T (p.Glu355Ter) rs121908975
NM_001164277.2(SLC37A4):c.1065del (p.Ser356fs)
NM_001164277.2(SLC37A4):c.1079del (p.Asn360fs)
NM_001164277.2(SLC37A4):c.1124+1G>C rs782630676
NM_001164277.2(SLC37A4):c.1172_1173insT (p.Ser392fs)
NM_001164277.2(SLC37A4):c.1175del (p.Ser392fs)
NM_001164277.2(SLC37A4):c.1178G>A (p.Trp393Ter) rs2134626765
NM_001164277.2(SLC37A4):c.1190del (p.Phe397fs)
NM_001164277.2(SLC37A4):c.11del (p.Gln4fs) rs2134644472
NM_001164277.2(SLC37A4):c.1212T>A (p.Cys404Ter)
NM_001164277.2(SLC37A4):c.148+1G>A rs1943672400
NM_001164277.2(SLC37A4):c.148+2T>C rs1449998297
NM_001164277.2(SLC37A4):c.149-2A>G
NM_001164277.2(SLC37A4):c.169_175del (p.Ser57fs) rs782501672
NM_001164277.2(SLC37A4):c.170C>A (p.Ser57Ter) rs374848317
NM_001164277.2(SLC37A4):c.180T>G (p.Tyr60Ter)
NM_001164277.2(SLC37A4):c.195dup (p.Val66fs)
NM_001164277.2(SLC37A4):c.217C>T (p.Gln73Ter) rs1555191604
NM_001164277.2(SLC37A4):c.233G>A (p.Trp78Ter)
NM_001164277.2(SLC37A4):c.279del (p.Phe94fs)
NM_001164277.2(SLC37A4):c.294del (p.Thr99fs)
NM_001164277.2(SLC37A4):c.335dup (p.Ala113fs) rs2134639714
NM_001164277.2(SLC37A4):c.344_345dup (p.Leu116fs) rs782604758
NM_001164277.2(SLC37A4):c.345dup (p.Leu116fs) rs782604758
NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs) rs1182102272
NM_001164277.2(SLC37A4):c.381+1G>A rs786204637
NM_001164277.2(SLC37A4):c.381+1G>T rs786204637
NM_001164277.2(SLC37A4):c.398dup (p.Phe134fs) rs2134638421
NM_001164277.2(SLC37A4):c.410G>A (p.Trp137Ter)
NM_001164277.2(SLC37A4):c.413G>A (p.Trp138Ter)
NM_001164277.2(SLC37A4):c.421del (p.Leu141fs)
NM_001164277.2(SLC37A4):c.494G>A (p.Trp165Ter) rs1943618079
NM_001164277.2(SLC37A4):c.495G>A (p.Trp165Ter) rs1233639372
NM_001164277.2(SLC37A4):c.497_509del (p.Arg166fs)
NM_001164277.2(SLC37A4):c.528_530del (p.Cys176_Val177delinsTrp) rs2134637643
NM_001164277.2(SLC37A4):c.547T>C (p.Cys183Arg) rs193302893
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu) rs193302888
NM_001164277.2(SLC37A4):c.593del (p.Asn198fs)
NM_001164277.2(SLC37A4):c.595del (p.Leu199fs) rs1474282972
NM_001164277.2(SLC37A4):c.59dup (p.Tyr21fs) rs1943676862
NM_001164277.2(SLC37A4):c.675C>A (p.Tyr225Ter) rs996440530
NM_001164277.2(SLC37A4):c.680G>A (p.Trp227Ter)
NM_001164277.2(SLC37A4):c.686del (p.Leu229fs)
NM_001164277.2(SLC37A4):c.713del (p.Gly238fs)
NM_001164277.2(SLC37A4):c.71_74dup (p.Tyr25Ter) rs2134644045
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs) rs1447366650
NM_001164277.2(SLC37A4):c.751dup (p.Leu251fs)
NM_001164277.2(SLC37A4):c.778del (p.Leu260_Val261insTer)
NM_001164277.2(SLC37A4):c.786-3_787del rs2134633858
NM_001164277.2(SLC37A4):c.796_797del (p.Met266fs) rs1592111172
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His) rs193302903
NM_001164277.2(SLC37A4):c.925del (p.Ala309fs) rs2134631619
NM_001164277.2(SLC37A4):c.927del (p.Gly310fs) rs1943557200
NM_001164277.2(SLC37A4):c.929del (p.Gly310fs) rs1943556915
NM_001164277.2(SLC37A4):c.935_936del (p.Thr312fs)
NM_001164277.2(SLC37A4):c.958del (p.Arg319_Val320insTer) rs1943554955
NM_001164277.2(SLC37A4):c.962_963del (p.Thr321fs)
NM_001164277.2(SLC37A4):c.976dup (p.Ser326fs) rs2134631242
NM_001164277.2(SLC37A4):c.981del (p.Lys328fs) rs1001301633
NM_001164277.2(SLC37A4):c.989G>A (p.Trp330Ter)
NM_001972.4(ELANE):c.129C>G (p.Phe43Leu)
NM_001972.4(ELANE):c.137C>T (p.Ser46Phe) rs878855320
NM_001972.4(ELANE):c.140T>C (p.Leu47Pro) rs878855319
NM_001972.4(ELANE):c.164G>A (p.Cys55Tyr)
NM_001972.4(ELANE):c.182C>T (p.Ala61Val) rs137854447
NM_001972.4(ELANE):c.1A>G (p.Met1Val) rs2145142832
NM_001972.4(ELANE):c.242G>C (p.Arg81Pro) rs762470485
NM_001972.4(ELANE):c.251T>C (p.Leu84Pro) rs1064793108
NM_001972.4(ELANE):c.253G>A (p.Gly85Arg) rs1405536870
NM_001972.4(ELANE):c.301G>A (p.Val101Met) rs137854449
NM_001972.4(ELANE):c.308G>C (p.Arg103Pro) rs745455816
NM_001972.4(ELANE):c.367-8C>A rs200752339
NM_001972.4(ELANE):c.377C>G (p.Ser126Trp) rs137854450
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) rs137854450
NM_001972.4(ELANE):c.416C>G (p.Pro139Arg)
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu) rs137854448
NM_001972.4(ELANE):c.452G>A (p.Cys151Tyr) rs57246956
NM_001972.4(ELANE):c.461T>G (p.Met154Arg) rs1429051935
NM_001972.4(ELANE):c.538del (p.Leu180fs)
NM_001972.4(ELANE):c.597+1G>A rs1555710005
NM_001972.4(ELANE):c.597+1G>C rs1555710005
NM_001972.4(ELANE):c.597+5G>A rs879253882
NM_001972.4(ELANE):c.597+5G>T rs879253882
NM_001972.4(ELANE):c.607G>C (p.Gly203Arg) rs201139487
NM_001972.4(ELANE):c.639del (p.His213fs)
NM_001972.4(ELANE):c.640G>A (p.Gly214Arg) rs137854451
NM_001972.4(ELANE):c.669C>A (p.Cys223Ter) rs1599294750
NM_001972.4(ELANE):c.687del (p.Asp230fs) rs2145149748
NM_001972.4(ELANE):c.722G>A (p.Trp241Ter) rs2035677025
NM_001972.4(ELANE):c.723G>A (p.Trp241Ter) rs2145149815
NM_003467.3(CXCR4):c.1000C>T (p.Arg334Ter) rs104893624
NM_003467.3(CXCR4):c.1006G>T (p.Gly336Ter) rs2104915575
NM_003467.3(CXCR4):c.1014del (p.Ser339fs) rs2104915548
NM_003467.3(CXCR4):c.1025_1026del (p.Thr342fs) rs2104915518
NM_003467.3(CXCR4):c.893_1034dup (p.Glu345_Ser346insProHisProLeuCysPheProTrpSerGlnIleTer) rs2104915487
NM_003467.3(CXCR4):c.956_957del (p.Ser319fs) rs1684841455
NM_003467.3(CXCR4):c.959_960del (p.Val320fs) rs2104915680
NM_003467.3(CXCR4):c.963dup (p.Arg322fs) rs2104915668
NM_003467.3(CXCR4):c.969dup (p.Ser324fs) rs1684840786
NM_003467.3(CXCR4):c.994G>T (p.Gly332Ter) rs1240625960
NM_003664.4(AP3B1):c.1839_1842delTAGA
NM_003664.5(AP3B1):c.1101dup (p.Phe368fs) rs1744118616
NM_003664.5(AP3B1):c.1255C>T (p.Gln419Ter)
NM_003664.5(AP3B1):c.1286del (p.Gly429fs)
NM_003664.5(AP3B1):c.1408del (p.Gln470fs)
NM_003664.5(AP3B1):c.1525C>T (p.Arg509Ter) rs121908906
NM_003664.5(AP3B1):c.1619dup (p.Ala541fs) rs1753129765
NM_003664.5(AP3B1):c.1907T>G (p.Leu636Ter)
NM_003664.5(AP3B1):c.1930_1937del (p.Pro644fs)
NM_003664.5(AP3B1):c.1945C>T (p.Arg649Ter)
NM_003664.5(AP3B1):c.1973_1983dup (p.Pro662fs)
NM_003664.5(AP3B1):c.237_238del (p.Phe80fs) rs2112518616
NM_003664.5(AP3B1):c.2640del (p.Gly881fs)
NM_003664.5(AP3B1):c.2675_2679del (p.Pro892fs)
NM_003664.5(AP3B1):c.2694_2712del (p.Met899fs) rs2112100310
NM_003664.5(AP3B1):c.2734C>T (p.Arg912Ter)
NM_003664.5(AP3B1):c.2738del (p.Lys913fs) rs2112100217
NM_003664.5(AP3B1):c.2757del (p.Ile919fs) rs2112100189
NM_003664.5(AP3B1):c.2801del (p.Asn934fs) rs2112100020
NM_003664.5(AP3B1):c.364C>T (p.Arg122Ter)
NM_003664.5(AP3B1):c.753T>G (p.Tyr251Ter)
NM_003664.5(AP3B1):c.778del (p.Trp260fs)
NM_003664.5(AP3B1):c.779G>A (p.Trp260Ter) rs1745947620
NM_006118.4(HAX1):c.103_106del (p.Glu35fs)
NM_006118.4(HAX1):c.11_12del (p.Leu3_Phe4insTer)
NM_006118.4(HAX1):c.125dup (p.Ser43fs) rs745666437
NM_006118.4(HAX1):c.146del (p.Pro49fs) rs2149139668
NM_006118.4(HAX1):c.154_155dup (p.Ser53fs)
NM_006118.4(HAX1):c.163C>T (p.Gln55Ter)
NM_006118.4(HAX1):c.166del (p.His56fs) rs2149139706
NM_006118.4(HAX1):c.16del (p.Leu6fs)
NM_006118.4(HAX1):c.173del (p.Pro58fs)
NM_006118.4(HAX1):c.214_217dup (p.Ile73fs) rs2149139793
NM_006118.4(HAX1):c.216_217insC (p.Ile73fs)
NM_006118.4(HAX1):c.235_236del (p.Phe79fs) rs2149139817
NM_006118.4(HAX1):c.314dup (p.Pro105_Glu106insTer)
NM_006118.4(HAX1):c.349G>T (p.Glu117Ter) rs1487742962
NM_006118.4(HAX1):c.368_381del (p.Gln123fs) rs1425877227
NM_006118.4(HAX1):c.430dup (p.Val144fs) rs770288337
NM_006118.4(HAX1):c.432del (p.Leu145fs)
NM_006118.4(HAX1):c.43G>T (p.Gly15Ter)
NM_006118.4(HAX1):c.480G>A (p.Trp160Ter) rs1392118289
NM_006118.4(HAX1):c.487C>T (p.Gln163Ter) rs2149140056
NM_006118.4(HAX1):c.505-1G>C
NM_006118.4(HAX1):c.518G>A (p.Trp173Ter)
NM_006118.4(HAX1):c.556+1del rs2149140495
NM_006118.4(HAX1):c.58dup (p.Arg20fs) rs2149139493
NM_006118.4(HAX1):c.85C>T (p.Arg29Ter)
NM_007259.5(VPS45):c.671C>A (p.Thr224Asn) rs879255237
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs) rs774357106
NM_017890.5(VPS13B):c.4165G>T (p.Glu1389Ter)
NM_017890.5(VPS13B):c.4176G>A (p.Trp1392Ter)
NM_017890.5(VPS13B):c.4207del (p.Ser1403fs)
NM_017890.5(VPS13B):c.4233dup (p.Thr1412fs) rs2133626786
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs) rs1427643616
NM_138387.4(G6PC3):c.131C>T (p.Pro44Leu)
NM_138387.4(G6PC3):c.163del (p.Ile55fs)
NM_138387.4(G6PC3):c.210_213del (p.Phe71fs)
NM_138387.4(G6PC3):c.215del (p.Lys72fs)
NM_138387.4(G6PC3):c.218+2T>C
NM_138387.4(G6PC3):c.246G>A (p.Trp82Ter)
NM_138387.4(G6PC3):c.267C>G (p.Tyr89Ter)
NM_138387.4(G6PC3):c.376del (p.Ile125_Met126insTer)
NM_138387.4(G6PC3):c.3G>T (p.Met1Ile)
NM_138387.4(G6PC3):c.464del (p.Leu155fs) rs1295168770
NM_138387.4(G6PC3):c.481C>T (p.Arg161Ter)
NM_138387.4(G6PC3):c.575dup (p.Met192fs)
NM_138387.4(G6PC3):c.62G>A (p.Trp21Ter)
NM_138387.4(G6PC3):c.635del (p.Leu212fs) rs769634275
NM_138387.4(G6PC3):c.63G>A (p.Trp21Ter)
NM_138387.4(G6PC3):c.677+1G>A rs778208850
NM_138387.4(G6PC3):c.758_781del (p.Arg253_Gly260del) rs777475388
NM_138387.4(G6PC3):c.765del (p.Ala257fs)
NM_152564.5(VPS13B):c.10000_10019dup (p.Pro3341fs) rs2130902516
NM_152564.5(VPS13B):c.10001_10002del (p.Thr3334fs) rs386834054
NM_152564.5(VPS13B):c.1001del (p.Tyr334fs) rs1057516324
NM_152564.5(VPS13B):c.10080del (p.Thr3361fs)
NM_152564.5(VPS13B):c.10087A>T (p.Lys3363Ter) rs1816395005
NM_152564.5(VPS13B):c.10148C>G (p.Ser3383Ter) rs1014479884
NM_152564.5(VPS13B):c.10161_10170del (p.Arg3388fs)
NM_152564.5(VPS13B):c.10166_10167del (p.Leu3389fs) rs1554581267
NM_152564.5(VPS13B):c.10189del (p.Cys3397fs)
NM_152564.5(VPS13B):c.10209dup (p.Pro3404fs)
NM_152564.5(VPS13B):c.10272T>A (p.Cys3424Ter)
NM_152564.5(VPS13B):c.10327del (p.Val3443fs) rs1816408985
NM_152564.5(VPS13B):c.1034G>A (p.Trp345Ter)
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs) rs180177371
NM_152564.5(VPS13B):c.10425dup (p.Cys3476fs) rs1816414644
NM_152564.5(VPS13B):c.10440_10441del (p.Cys3481fs) rs1554581504
NM_152564.5(VPS13B):c.1044G>A (p.Trp348Ter) rs1847921335
NM_152564.5(VPS13B):c.10544_10545delinsGA (p.Tyr3515Ter)
NM_152564.5(VPS13B):c.10558_10561del (p.Phe3520fs) rs1354326532
NM_152564.5(VPS13B):c.10636C>T (p.Gln3546Ter)
NM_152564.5(VPS13B):c.10661T>A (p.Leu3554Ter)
NM_152564.5(VPS13B):c.10696C>T (p.Gln3566Ter) rs2130918298
NM_152564.5(VPS13B):c.10735A>T (p.Lys3579Ter) rs1057520769
NM_152564.5(VPS13B):c.10812del (p.Arg3604fs)
NM_152564.5(VPS13B):c.10892_10893del (p.Ile3631fs)
NM_152564.5(VPS13B):c.10936del (p.Val3646fs) rs2130933596
NM_152564.5(VPS13B):c.10975del (p.Arg3659fs) rs1816713664
NM_152564.5(VPS13B):c.10982del (p.Pro3661fs) rs2130933734
NM_152564.5(VPS13B):c.11016del (p.Thr3673fs)
NM_152564.5(VPS13B):c.11044+2T>C rs587777382
NM_152564.5(VPS13B):c.11047del (p.Thr3683fs) rs2130941591
NM_152564.5(VPS13B):c.11050del (p.Leu3684fs) rs386834058
NM_152564.5(VPS13B):c.11083del (p.Ala3695fs)
NM_152564.5(VPS13B):c.11124C>G (p.Tyr3708Ter) rs2130941863
NM_152564.5(VPS13B):c.11158G>T (p.Glu3720Ter)
NM_152564.5(VPS13B):c.11179C>T (p.Arg3727Ter)
NM_152564.5(VPS13B):c.11216-2A>G rs867112705
NM_152564.5(VPS13B):c.1122del (p.Met375fs)
NM_152564.5(VPS13B):c.11236del (p.Asp3746fs) rs1347701279
NM_152564.5(VPS13B):c.11252del (p.Asn3751fs) rs2130962934
NM_152564.5(VPS13B):c.11263del (p.Thr3755fs) rs1057516245
NM_152564.5(VPS13B):c.11275C>T (p.Gln3759Ter)
NM_152564.5(VPS13B):c.11298dup (p.Lys3767fs)
NM_152564.5(VPS13B):c.11315del (p.Gly3772fs)
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs) rs1554586953
NM_152564.5(VPS13B):c.11352dup (p.Ile3785fs)
NM_152564.5(VPS13B):c.11413_11414del (p.Leu3805fs)
NM_152564.5(VPS13B):c.11416dup (p.Ser3806fs)
NM_152564.5(VPS13B):c.11419C>T (p.Gln3807Ter) rs2130972411
NM_152564.5(VPS13B):c.11429_11432dup (p.Arg3812fs) rs1588810695
NM_152564.5(VPS13B):c.11431C>T (p.Gln3811Ter)
NM_152564.5(VPS13B):c.11438_11450del (p.His3813fs) rs2130972502
NM_152564.5(VPS13B):c.11453_11454insC (p.His3819fs)
NM_152564.5(VPS13B):c.11473_11476del (p.Asn3825fs) rs2130972632
NM_152564.5(VPS13B):c.11496-2A>G rs1554588353
NM_152564.5(VPS13B):c.11496G>A (p.Trp3832Ter)
NM_152564.5(VPS13B):c.11506_11507del (p.Gln3836fs)
NM_152564.5(VPS13B):c.1150A>T (p.Lys384Ter) rs1554625838
NM_152564.5(VPS13B):c.11510_11513dup (p.Gly3839fs) rs1588811810
NM_152564.5(VPS13B):c.11524_11525del (p.Glu3842fs)
NM_152564.5(VPS13B):c.11602G>T (p.Glu3868Ter)
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs) rs386834066
NM_152564.5(VPS13B):c.11625_11628del (p.Ser3876fs) rs2130975687
NM_152564.5(VPS13B):c.11638C>T (p.Gln3880Ter)
NM_152564.5(VPS13B):c.11655del (p.Val3886fs) rs1212294259
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs) rs1180933570
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs) rs1161589003
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs) rs386834067
NM_152564.5(VPS13B):c.11725dup (p.Arg3909fs) rs2130976122
NM_152564.5(VPS13B):c.11727_11728del (p.Arg3909fs) rs2130976129
NM_152564.5(VPS13B):c.11774_11775del (p.Glu3925fs) rs755827237
NM_152564.5(VPS13B):c.11776C>T (p.Gln3926Ter)
NM_152564.5(VPS13B):c.11804_11808dup (p.Lys3937fs) rs1263684271
NM_152564.5(VPS13B):c.11809_11810dup (p.Thr3938fs) rs1371736348
NM_152564.5(VPS13B):c.11809_11812dup (p.Thr3938fs)
NM_152564.5(VPS13B):c.11810del (p.Lys3937fs) rs1371736348
NM_152564.5(VPS13B):c.11815_11822del (p.Ser3939fs)
NM_152564.5(VPS13B):c.11831_11840del (p.Pro3944fs) rs386834069
NM_152564.5(VPS13B):c.11832del (p.Ser3945fs)
NM_152564.5(VPS13B):c.11832dup (p.Ser3945fs) rs180177374
NM_152564.5(VPS13B):c.11838T>A (p.Cys3946Ter) rs773094891
NM_152564.5(VPS13B):c.11839_11842dup (p.Ser3948fs) rs1817657601
NM_152564.5(VPS13B):c.11850_11853dup (p.Pro3952fs) rs1554590433
NM_152564.5(VPS13B):c.11880dup (p.Pro3961fs) rs1057517328
NM_152564.5(VPS13B):c.11886dup (p.Ser3963fs)
NM_152564.5(VPS13B):c.11894_11895dup (p.Lys3966fs)
NM_152564.5(VPS13B):c.1246C>T (p.Gln416Ter) rs1809977682
NM_152564.5(VPS13B):c.1261A>T (p.Lys421Ter)
NM_152564.5(VPS13B):c.1264G>T (p.Glu422Ter)
NM_152564.5(VPS13B):c.1277G>A (p.Trp426Ter)
NM_152564.5(VPS13B):c.1306del (p.Leu436_Met437insTer) rs1408744761
NM_152564.5(VPS13B):c.1318G>T (p.Glu440Ter)
NM_152564.5(VPS13B):c.1366del (p.Cys456fs) rs2132555225
NM_152564.5(VPS13B):c.1378del (p.Ile460fs) rs1810006084
NM_152564.5(VPS13B):c.1406del (p.Asn469fs)
NM_152564.5(VPS13B):c.142G>T (p.Glu48Ter)
NM_152564.5(VPS13B):c.1436dup (p.Phe480fs)
NM_152564.5(VPS13B):c.145C>T (p.Gln49Ter) rs2132125704
NM_152564.5(VPS13B):c.1479C>A (p.Tyr493Ter)
NM_152564.5(VPS13B):c.1482del (p.Thr495fs) rs2132556658
NM_152564.5(VPS13B):c.1483dup (p.Thr495fs)
NM_152564.5(VPS13B):c.1527del (p.Arg510fs) rs2132556766
NM_152564.5(VPS13B):c.154A>T (p.Lys52Ter)
NM_152564.5(VPS13B):c.1604del (p.Ala535fs) rs1810088202
NM_152564.5(VPS13B):c.163_166del (p.Phe55fs)
NM_152564.5(VPS13B):c.1664_1671del (p.Gln555fs) rs1057517177
NM_152564.5(VPS13B):c.1732del (p.Val578fs) rs2132581182
NM_152564.5(VPS13B):c.1755_1759dup (p.Asp587fs) rs1810518393
NM_152564.5(VPS13B):c.1757T>A (p.Leu586Ter) rs2132581276
NM_152564.5(VPS13B):c.1762del (p.Ser588fs) rs2132581325
NM_152564.5(VPS13B):c.178G>T (p.Gly60Ter)
NM_152564.5(VPS13B):c.1819G>T (p.Glu607Ter)
NM_152564.5(VPS13B):c.1996_2006del (p.Val666fs)
NM_152564.5(VPS13B):c.2012_2013dup (p.Asn672fs)
NM_152564.5(VPS13B):c.2107dup (p.Ser703fs) rs1811379645
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter) rs777593389
NM_152564.5(VPS13B):c.2190T>A (p.Tyr730Ter)
NM_152564.5(VPS13B):c.2190T>G (p.Tyr730Ter)
NM_152564.5(VPS13B):c.2274del (p.Val759fs)
NM_152564.5(VPS13B):c.2321_2322del (p.Leu774fs) rs2132663525
NM_152564.5(VPS13B):c.2334G>A (p.Trp778Ter) rs2132727940
NM_152564.5(VPS13B):c.2347_2348del (p.Gln783fs) rs1813682416
NM_152564.5(VPS13B):c.2381del (p.Pro794fs) rs2132728101
NM_152564.5(VPS13B):c.2387_2388del (p.Leu796fs) rs2132728144
NM_152564.5(VPS13B):c.2410C>T (p.Gln804Ter) rs869312923
NM_152564.5(VPS13B):c.2425C>T (p.Gln809Ter) rs2132728269
NM_152564.5(VPS13B):c.2445G>A (p.Trp815Ter)
NM_152564.5(VPS13B):c.2507del (p.Leu836fs)
NM_152564.5(VPS13B):c.2513_2514del (p.Ile838fs) rs2132728587
NM_152564.5(VPS13B):c.2521A>T (p.Lys841Ter)
NM_152564.5(VPS13B):c.2527_2528insT (p.Lys843fs) rs1818768251
NM_152564.5(VPS13B):c.2536del (p.Leu846fs) rs1818768394
NM_152564.5(VPS13B):c.2558del (p.Ile853fs)
NM_152564.5(VPS13B):c.2560C>T (p.Gln854Ter) rs2132994876
NM_152564.5(VPS13B):c.2583C>A (p.Cys861Ter) rs199868590
NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter) rs140936527
NM_152564.5(VPS13B):c.259del (p.Glu87fs)
NM_152564.5(VPS13B):c.2651-1G>A rs386834077
NM_152564.5(VPS13B):c.2723del (p.Lys908fs)
NM_152564.5(VPS13B):c.2750_2751del (p.Glu917fs)
NM_152564.5(VPS13B):c.276del (p.Lys93fs)
NM_152564.5(VPS13B):c.2771del (p.Asp923_Leu924insTer)
NM_152564.5(VPS13B):c.2778del (p.Phe927fs) rs1818830393
NM_152564.5(VPS13B):c.285dup (p.Ile96fs)
NM_152564.5(VPS13B):c.2879T>G (p.Leu960Ter) rs775378782
NM_152564.5(VPS13B):c.2932C>T (p.Gln978Ter) rs1563700205
NM_152564.5(VPS13B):c.2935C>T (p.Gln979Ter)
NM_152564.5(VPS13B):c.2963dup (p.Met988fs)
NM_152564.5(VPS13B):c.2989dup (p.Glu997fs) rs2133312597
NM_152564.5(VPS13B):c.3025C>T (p.Gln1009Ter) rs2133312718
NM_152564.5(VPS13B):c.3027_3045dup (p.Tyr1016delinsIleIleSerGlyLeuTer) rs1057516670
NM_152564.5(VPS13B):c.3032_3033del (p.Tyr1011fs)
NM_152564.5(VPS13B):c.3068del (p.Thr1023fs) rs2133312827
NM_152564.5(VPS13B):c.3151G>T (p.Glu1051Ter) rs2133412405
NM_152564.5(VPS13B):c.3194_3198del (p.Lys1065fs) rs2133412472
NM_152564.5(VPS13B):c.3208del (p.Gln1070fs)
NM_152564.5(VPS13B):c.3214G>T (p.Glu1072Ter)
NM_152564.5(VPS13B):c.3234del (p.Phe1079fs)
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs) rs764544747
NM_152564.5(VPS13B):c.3307_3310dup (p.Tyr1104fs)
NM_152564.5(VPS13B):c.3308G>A (p.Trp1103Ter)
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs) rs180177327
NM_152564.5(VPS13B):c.3390T>A (p.Tyr1130Ter)
NM_152564.5(VPS13B):c.3394G>T (p.Glu1132Ter)
NM_152564.5(VPS13B):c.3461G>A (p.Trp1154Ter) rs2133510708
NM_152564.5(VPS13B):c.3492_3493dup (p.Thr1165fs) rs2133510772
NM_152564.5(VPS13B):c.3496del (p.Leu1166fs)
NM_152564.5(VPS13B):c.3501_3502insAA (p.Gly1168fs)
NM_152564.5(VPS13B):c.3522C>A (p.Cys1174Ter)
NM_152564.5(VPS13B):c.3554_3555dup (p.Ala1186Ter)
NM_152564.5(VPS13B):c.3579del (p.Ala1194fs)
NM_152564.5(VPS13B):c.3664C>T (p.Gln1222Ter) rs2133511511
NM_152564.5(VPS13B):c.3682G>T (p.Glu1228Ter)
NM_152564.5(VPS13B):c.3701del (p.Asn1234fs) rs1820043726
NM_152564.5(VPS13B):c.3782del (p.Pro1261fs) rs753645306
NM_152564.5(VPS13B):c.3902dup (p.Phe1302fs) rs1057516653
NM_152564.5(VPS13B):c.3974G>A (p.Trp1325Ter) rs2133609831
NM_152564.5(VPS13B):c.3999del (p.Thr1334fs)
NM_152564.5(VPS13B):c.4006_4007insTT (p.Lys1336fs)
NM_152564.5(VPS13B):c.4050_4053del (p.Cys1350fs) rs1821315647
NM_152564.5(VPS13B):c.413-2A>G rs2132453775
NM_152564.5(VPS13B):c.424_425del (p.Leu143fs) rs1057517076
NM_152564.5(VPS13B):c.4259del (p.Gln1420fs) rs386834084
NM_152564.5(VPS13B):c.4267_4273del (p.Phe1423fs)
NM_152564.5(VPS13B):c.4413del (p.Gln1472fs)
NM_152564.5(VPS13B):c.4529_4535dup (p.His1512fs) rs2133637853
NM_152564.5(VPS13B):c.4539_4540del (p.Leu1514fs) rs1554826566
NM_152564.5(VPS13B):c.4609_4610del (p.Glu1537fs) rs1554826615
NM_152564.5(VPS13B):c.4651G>T (p.Glu1551Ter)
NM_152564.5(VPS13B):c.467_470del (p.Asn156fs) rs386834090
NM_152564.5(VPS13B):c.4717A>T (p.Arg1573Ter) rs1822355402
NM_152564.5(VPS13B):c.4745+1G>C
NM_152564.5(VPS13B):c.4745+2T>C rs386834091
NM_152564.5(VPS13B):c.4771C>T (p.Arg1591Ter) rs752429062
NM_152564.5(VPS13B):c.4807C>T (p.Gln1603Ter) rs2133764725
NM_152564.5(VPS13B):c.483del (p.Lys161fs) rs2132453991
NM_152564.5(VPS13B):c.4848G>A (p.Trp1616Ter) rs180177360
NM_152564.5(VPS13B):c.4876_4877del (p.Val1626fs) rs1588491595
NM_152564.5(VPS13B):c.4903G>T (p.Glu1635Ter)
NM_152564.5(VPS13B):c.4934G>A (p.Trp1645Ter)
NM_152564.5(VPS13B):c.4949+2T>G
NM_152564.5(VPS13B):c.4959del (p.His1654fs) rs1166814614
NM_152564.5(VPS13B):c.5091_5092del (p.Cys1697fs)
NM_152564.5(VPS13B):c.5153_5154insC (p.Gln1719fs) rs1563806122
NM_152564.5(VPS13B):c.5163dup (p.His1722fs)
NM_152564.5(VPS13B):c.5171del (p.Gln1723_Leu1724insTer) rs1434257397
NM_152564.5(VPS13B):c.5197del (p.Glu1733fs)
NM_152564.5(VPS13B):c.5197dup (p.Glu1733fs)
NM_152564.5(VPS13B):c.5233G>T (p.Glu1745Ter)
NM_152564.5(VPS13B):c.5244dup (p.Val1749fs) rs752399634
NM_152564.5(VPS13B):c.5351_5352dup (p.Gln1785fs) rs180177363
NM_152564.5(VPS13B):c.5354_5375del (p.Gln1785fs) rs1829386577
NM_152564.5(VPS13B):c.5391dup (p.Ser1798fs)
NM_152564.5(VPS13B):c.541dup (p.Val181fs)
NM_152564.5(VPS13B):c.5433del (p.Phe1812fs)
NM_152564.5(VPS13B):c.547G>T (p.Glu183Ter) rs1227284058
NM_152564.5(VPS13B):c.5518A>T (p.Lys1840Ter)
NM_152564.5(VPS13B):c.5527G>T (p.Glu1843Ter)
NM_152564.5(VPS13B):c.5533dup (p.Thr1845fs) rs1176397159
NM_152564.5(VPS13B):c.5540dup (p.Ser1848fs) rs386834095
NM_152564.5(VPS13B):c.5577del (p.Ala1860fs)
NM_152564.5(VPS13B):c.5588_5589del (p.Asn1863fs)
NM_152564.5(VPS13B):c.5593_5614del (p.Ala1865fs)
NM_152564.5(VPS13B):c.5599del (p.Ile1867fs)
NM_152564.5(VPS13B):c.5617G>T (p.Glu1873Ter)
NM_152564.5(VPS13B):c.5627_5628insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGTATATCTCCCAAAGATCTCTT (p.Leu1876delinsPhePhePhePhePhePhePheXaaXaaXaaXaaHisMetTyrThrCysAlaMetLeuValArgCysThrHisTer)
NM_152564.5(VPS13B):c.5662dup (p.Ile1888fs) rs386834096
NM_152564.5(VPS13B):c.5705C>A (p.Ser1902Ter)
NM_152564.5(VPS13B):c.5719del (p.Ala1907fs)
NM_152564.5(VPS13B):c.572del (p.Asp191fs) rs1588038976
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs) rs386834098
NM_152564.5(VPS13B):c.5771del (p.Leu1924fs) rs2133932364
NM_152564.5(VPS13B):c.5836_5840del (p.Arg1946fs) rs2133932487
NM_152564.5(VPS13B):c.5923_5924del (p.Leu1975fs) rs886041323
NM_152564.5(VPS13B):c.5927del (p.Pro1976fs) rs755125969
NM_152564.5(VPS13B):c.5931del (p.Ala1978fs) rs2129763497
NM_152564.5(VPS13B):c.5946C>A (p.Cys1982Ter)
NM_152564.5(VPS13B):c.5955G>A (p.Trp1985Ter) rs1554892040
NM_152564.5(VPS13B):c.5959C>T (p.Gln1987Ter)
NM_152564.5(VPS13B):c.6009del (p.Phe2003fs) rs1357171752
NM_152564.5(VPS13B):c.6019C>T (p.Gln2007Ter)
NM_152564.5(VPS13B):c.6068C>G (p.Ser2023Ter)
NM_152564.5(VPS13B):c.6074del (p.Pro2025fs)
NM_152564.5(VPS13B):c.6118del (p.Leu2040fs) rs2130179621
NM_152564.5(VPS13B):c.6140dup (p.Asn2047fs) rs2130179734
NM_152564.5(VPS13B):c.6147_6148del (p.His2049fs) rs1588635717
NM_152564.5(VPS13B):c.6183del (p.Asn2062fs)
NM_152564.5(VPS13B):c.6201_6210del (p.Lys2067fs) rs2130180236
NM_152564.5(VPS13B):c.6226dup (p.Tyr2076fs)
NM_152564.5(VPS13B):c.6228C>A (p.Tyr2076Ter)
NM_152564.5(VPS13B):c.6289_6295del (p.Glu2097fs)
NM_152564.5(VPS13B):c.6299_6308del (p.Trp2100fs) rs1554911731
NM_152564.5(VPS13B):c.6302_6303insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAACATGTGGAG (p.Arg2101_Ala2102insProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluAsnMetTrpArg) rs2130180694
NM_152564.5(VPS13B):c.6315C>A (p.Cys2105Ter) rs2130181003
NM_152564.5(VPS13B):c.6329_6330del (p.Ser2110fs)
NM_152564.5(VPS13B):c.6330del (p.Val2111fs)
NM_152564.5(VPS13B):c.6343C>T (p.Gln2115Ter) rs1057516287
NM_152564.5(VPS13B):c.6381del (p.Ser2127fs)
NM_152564.5(VPS13B):c.6395T>A (p.Leu2132Ter) rs2130181483
NM_152564.5(VPS13B):c.6412del (p.Leu2138fs)
NM_152564.5(VPS13B):c.6447del (p.Val2150fs) rs2130181658
NM_152564.5(VPS13B):c.6470C>A (p.Ser2157Ter) rs1057516494
NM_152564.5(VPS13B):c.6470C>G (p.Ser2157Ter)
NM_152564.5(VPS13B):c.6508del (p.Thr2170fs) rs1057517318
NM_152564.5(VPS13B):c.6523_6526del (p.Arg2175fs)
NM_152564.5(VPS13B):c.6552dup (p.Ala2185fs)
NM_152564.5(VPS13B):c.6625dup (p.Ile2209fs) rs2130317561
NM_152564.5(VPS13B):c.6647_6653del (p.Gly2216fs)
NM_152564.5(VPS13B):c.664G>T (p.Glu222Ter) rs2132481787
NM_152564.5(VPS13B):c.6657+1G>T rs180177366
NM_152564.5(VPS13B):c.6657+2T>C rs1832966881
NM_152564.5(VPS13B):c.6689del (p.Cys2229_Leu2230insTer)
NM_152564.5(VPS13B):c.6697_6698del (p.Leu2233fs)
NM_152564.5(VPS13B):c.6731del (p.Glu2244fs) rs1833089251
NM_152564.5(VPS13B):c.6834dup (p.Thr2279fs)
NM_152564.5(VPS13B):c.6856C>T (p.Gln2286Ter) rs1833092121
NM_152564.5(VPS13B):c.6865+1G>T rs202046738
NM_152564.5(VPS13B):c.6882del (p.Val2296fs)
NM_152564.5(VPS13B):c.6979del (p.Arg2326_Ile2327insTer)
NM_152564.5(VPS13B):c.7048C>T (p.Gln2350Ter) rs767858119
NM_152564.5(VPS13B):c.709_713del (p.Arg237fs)
NM_152564.5(VPS13B):c.7135del (p.Cys2379fs) rs2130621458
NM_152564.5(VPS13B):c.7144C>T (p.Gln2382Ter)
NM_152564.5(VPS13B):c.7184T>G (p.Leu2395Ter)
NM_152564.5(VPS13B):c.7190del (p.Ser2397fs)
NM_152564.5(VPS13B):c.7191_7192del (p.Ser2398fs) rs1811255718
NM_152564.5(VPS13B):c.7217del (p.Asn2406fs) rs886041184
NM_152564.5(VPS13B):c.7247+2T>C rs1563908020
NM_152564.5(VPS13B):c.7311_7312insAGGCA (p.Ala2438fs) rs1554952465
NM_152564.5(VPS13B):c.7447C>T (p.Gln2483Ter) rs980463746
NM_152564.5(VPS13B):c.7498_7501del (p.Val2500fs)
NM_152564.5(VPS13B):c.7555C>T (p.Gln2519Ter)
NM_152564.5(VPS13B):c.7558G>T (p.Glu2520Ter) rs2130678821
NM_152564.5(VPS13B):c.7564del (p.Gln2522fs)
NM_152564.5(VPS13B):c.7568_7569delinsAA (p.Phe2523Ter)
NM_152564.5(VPS13B):c.7576C>T (p.Gln2526Ter) rs1811869155
NM_152564.5(VPS13B):c.7651C>T (p.Gln2551Ter) rs2130679206
NM_152564.5(VPS13B):c.7732C>T (p.Gln2578Ter)
NM_152564.5(VPS13B):c.7734_7746del (p.Gln2578fs) rs2130679794
NM_152564.5(VPS13B):c.7777del (p.Gln2593fs) rs2130680017
NM_152564.5(VPS13B):c.7828del (p.Cys2610fs) rs1812158350
NM_152564.5(VPS13B):c.7864del (p.Val2622fs)
NM_152564.5(VPS13B):c.7919G>A (p.Trp2640Ter) rs2130702734
NM_152564.5(VPS13B):c.7946T>A (p.Leu2649Ter) rs2130785617
NM_152564.5(VPS13B):c.795_798del (p.Ile266fs) rs1554622608
NM_152564.5(VPS13B):c.7982G>A (p.Trp2661Ter)
NM_152564.5(VPS13B):c.7985C>G (p.Ser2662Ter) rs1813585665
NM_152564.5(VPS13B):c.8015del (p.Thr2672fs)
NM_152564.5(VPS13B):c.8032C>T (p.Gln2678Ter)
NM_152564.5(VPS13B):c.8042_8043del (p.Gly2681fs) rs1554560735
NM_152564.5(VPS13B):c.8133C>G (p.Tyr2711Ter)
NM_152564.5(VPS13B):c.8140C>T (p.Gln2714Ter)
NM_152564.5(VPS13B):c.8143dup (p.Ser2715fs) rs2130810644
NM_152564.5(VPS13B):c.816dup (p.Met273fs) rs1554622647
NM_152564.5(VPS13B):c.817_818del (p.Met273fs) rs2132497770
NM_152564.5(VPS13B):c.8194del (p.Ala2731_Val2732insTer)
NM_152564.5(VPS13B):c.8215dup (p.Cys2739fs)
NM_152564.5(VPS13B):c.8230C>T (p.Gln2744Ter) rs2130810847
NM_152564.5(VPS13B):c.8285del (p.Lys2762fs)
NM_152564.5(VPS13B):c.8287del (p.Ala2763fs) rs1554565645
NM_152564.5(VPS13B):c.8309C>G (p.Ser2770Ter)
NM_152564.5(VPS13B):c.8341G>T (p.Glu2781Ter) rs1379711249
NM_152564.5(VPS13B):c.8346_8350del (p.Ser2783fs)
NM_152564.5(VPS13B):c.8386dup (p.Ile2796fs)
NM_152564.5(VPS13B):c.8396G>A (p.Trp2799Ter) rs1057516484
NM_152564.5(VPS13B):c.8420_8426delinsGA (p.Pro2807fs)
NM_152564.5(VPS13B):c.8421del (p.Asn2808fs) rs1588743576
NM_152564.5(VPS13B):c.8430del (p.Val2811fs) rs2130813174
NM_152564.5(VPS13B):c.8437C>T (p.Gln2813Ter) rs2130813187
NM_152564.5(VPS13B):c.8446-1G>T rs1554566596
NM_152564.5(VPS13B):c.8461_8462del (p.Leu2821fs) rs2130813849
NM_152564.5(VPS13B):c.8494_8495del (p.Ile2832fs) rs2130813916
NM_152564.5(VPS13B):c.8496del (p.Ile2833fs) rs2130813918
NM_152564.5(VPS13B):c.8505_8538dup (p.Gln2847delinsPheGlyGluLysGluSerGlyIleGluTer) rs2130813950
NM_152564.5(VPS13B):c.8522dup (p.Leu2843fs)
NM_152564.5(VPS13B):c.8559del (p.Gln2854fs) rs765302278
NM_152564.5(VPS13B):c.855C>A (p.Tyr285Ter) rs1256482530
NM_152564.5(VPS13B):c.8560C>T (p.Gln2854Ter) rs2130814064
NM_152564.5(VPS13B):c.8622-2A>G rs386834115
NM_152564.5(VPS13B):c.865del (p.Glu288_Ile289insTer) rs2132497933
NM_152564.5(VPS13B):c.8710del (p.Val2904fs)
NM_152564.5(VPS13B):c.8741_8756del (p.Pro2914fs)
NM_152564.5(VPS13B):c.8750C>A (p.Ser2917Ter)
NM_152564.5(VPS13B):c.8855_8856del (p.Tyr2952fs) rs2130817575
NM_152564.5(VPS13B):c.8859_8862dup (p.Thr2955Ter) rs2130817608
NM_152564.5(VPS13B):c.8870T>A (p.Leu2957Ter) rs727504219
NM_152564.5(VPS13B):c.8915G>A (p.Trp2972Ter) rs797046098
NM_152564.5(VPS13B):c.896del (p.Asp299fs) rs2132498049
NM_152564.5(VPS13B):c.9009del (p.Ile3003fs) rs1057516538
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs) rs759536357
NM_152564.5(VPS13B):c.9089G>A (p.Trp3030Ter)
NM_152564.5(VPS13B):c.9090G>A (p.Trp3030Ter)
NM_152564.5(VPS13B):c.916_917del (p.Asp306fs) rs386834117
NM_152564.5(VPS13B):c.9182del (p.Lys3061fs) rs1057516789
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs) rs180177329
NM_152564.5(VPS13B):c.9280del (p.Ile3094fs)
NM_152564.5(VPS13B):c.9300_9303del (p.Val3102fs) rs773945333
NM_152564.5(VPS13B):c.9328G>T (p.Glu3110Ter)
NM_152564.5(VPS13B):c.9331-1G>A rs386834119
NM_152564.5(VPS13B):c.9331-1G>T rs386834119
NM_152564.5(VPS13B):c.9331-2A>G rs74485751
NM_152564.5(VPS13B):c.9333T>G (p.Tyr3111Ter) rs1563497733
NM_152564.5(VPS13B):c.9416G>A (p.Trp3139Ter) rs1563497844
NM_152564.5(VPS13B):c.9448del (p.Leu3150fs)
NM_152564.5(VPS13B):c.9472C>T (p.Gln3158Ter) rs753770252
NM_152564.5(VPS13B):c.9525G>A (p.Trp3175Ter) rs2130858310
NM_152564.5(VPS13B):c.9537_9540dup (p.Val3181fs) rs2130858335
NM_152564.5(VPS13B):c.9562_9565del (p.Gln3188fs) rs1554574028
NM_152564.5(VPS13B):c.9563dup (p.Ser3189fs) rs2130858386
NM_152564.5(VPS13B):c.9565_9566del (p.Ser3189fs)
NM_152564.5(VPS13B):c.95del (p.Gly32fs)
NM_152564.5(VPS13B):c.9615-1G>A rs2130865334
NM_152564.5(VPS13B):c.9634C>T (p.Gln3212Ter) rs1563499381
NM_152564.5(VPS13B):c.9639del (p.Glu3213fs)
NM_152564.5(VPS13B):c.9685C>T (p.Arg3229Ter) rs941969577
NM_152564.5(VPS13B):c.9697_9700delinsAAG (p.His3233fs)
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs) rs886041185
NM_152564.5(VPS13B):c.972T>G (p.Tyr324Ter)
NM_152564.5(VPS13B):c.9745del (p.Ile3249fs)
NM_152564.5(VPS13B):c.9775del (p.Ile3259fs) rs774357106
NM_152564.5(VPS13B):c.979C>T (p.Gln327Ter) rs1205613982
NM_152564.5(VPS13B):c.9843_9862del (p.Lys3282fs) rs2130866580
NM_152564.5(VPS13B):c.9891_9892insCCTCTAGA (p.Val3298fs) rs2130866708
NM_152564.5(VPS13B):c.9905G>A (p.Trp3302Ter) rs2130866735
NM_152564.5(VPS13B):c.9938dup (p.Gln3314fs)
NM_152564.5(VPS13B):c.9940_9941insTTT (p.Gln3314delinsLeuTer) rs1301330402
NM_152564.5(VPS13B):c.9943-1G>A
NM_152564.5(VPS13B):c.9943-2A>G rs1816111137
NM_183235.3(RAB27A):c.147_148del (p.Arg50fs)
NM_183235.3(RAB27A):c.18_19del (p.Tyr6_Asp7delinsTer) rs1555394745
NM_183235.3(RAB27A):c.240-2A>C
NM_183235.3(RAB27A):c.251dup (p.Leu84fs) rs1895911610
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro) rs104894497
NM_183235.3(RAB27A):c.2T>C (p.Met1Thr) rs141281020
NM_183235.3(RAB27A):c.335del (p.Asn112fs) rs756644243
NM_183235.3(RAB27A):c.352C>T (p.Gln118Ter) rs104894500
NM_183235.3(RAB27A):c.377del (p.Pro126fs) rs1895696380
NM_183235.3(RAB27A):c.423_424del (p.Arg141fs) rs766575263
NM_183235.3(RAB27A):c.439G>T (p.Glu147Ter) rs75258234
NM_183235.3(RAB27A):c.460A>T (p.Lys154Ter) rs2140958324
NM_183235.3(RAB27A):c.465T>A (p.Tyr155Ter)
NM_183235.3(RAB27A):c.467+1G>C rs756071120
NM_183235.3(RAB27A):c.514_518del (p.Gln172fs) rs767481076
NM_183235.3(RAB27A):c.53_54del (p.Ser18fs) rs1595700039
NM_183235.3(RAB27A):c.638_642del (p.Glu213fs)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.