ClinVar Miner

List of variants reported as likely pathogenic for constitutional neutropenia

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 932
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.9331-2A>T rs74485751 0.06492
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala) rs138930771 0.00053
NM_007259.5(VPS45):c.758C>T (p.Pro253Leu) rs143828923 0.00026
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282 0.00025
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_006118.4(HAX1):c.317-2A>G rs371504152 0.00009
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter) rs144539572 0.00008
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_001972.4(ELANE):c.659G>A (p.Arg220Gln) rs137854445 0.00003
NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter) rs200079039 0.00003
NM_152564.5(VPS13B):c.7248-1G>A rs763079458 0.00003
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr) rs80356492 0.00002
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter) rs781784543 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.244C>T (p.Arg82Cys) rs753966933 0.00002
NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter) rs80338652 0.00001
NM_000760.4(CSF3R):c.340C>T (p.Gln114Ter) rs756667927 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.381+2T>G rs782645078 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.652C>T (p.Gln218Ter) rs551439289 0.00001
NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys) rs193302889 0.00001
NM_001164277.2(SLC37A4):c.833T>A (p.Ile278Asn) rs193302900 0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His) rs121908978 0.00001
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys) rs193302880 0.00001
NM_003664.5(AP3B1):c.3131+1G>A rs766116144 0.00001
NM_006118.4(HAX1):c.407del (p.His136fs) rs748595772 0.00001
NM_006118.4(HAX1):c.663+1G>A rs41313932 0.00001
NM_007259.5(VPS45):c.712G>A (p.Glu238Lys) rs782269909 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_152564.5(VPS13B):c.10061+1G>A rs1200459145 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_152564.5(VPS13B):c.10867+1G>A rs780902262 0.00001
NM_152564.5(VPS13B):c.11094_11097dup (p.Arg3700fs) rs386834059 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.147+1G>A rs1057517029 0.00001
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356 0.00001
NM_152564.5(VPS13B):c.2824+2T>C rs141703746 0.00001
NM_152564.5(VPS13B):c.3022C>T (p.Gln1008Ter) rs567092790 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.3427C>T (p.Arg1143Ter) rs386834080 0.00001
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter) rs386834086 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.5011C>T (p.Arg1671Ter) rs386834093 0.00001
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp) rs780598553 0.00001
NM_152564.5(VPS13B):c.5515C>T (p.Gln1839Ter) rs1057516633 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.6125T>A (p.Leu2042Ter) rs371364257 0.00001
NM_152564.5(VPS13B):c.6295_6296del (p.Met2099fs) rs748404277 0.00001
NM_152564.5(VPS13B):c.6947A>G (p.Tyr2316Cys) rs386834104 0.00001
NM_152564.5(VPS13B):c.7051-1G>A rs930144563 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.7780-2A>C rs1378196300 0.00001
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter) rs386834110 0.00001
NM_152564.5(VPS13B):c.8097+1G>A rs1813590716 0.00001
NM_152564.5(VPS13B):c.8397G>A (p.Trp2799Ter) rs386834112 0.00001
NM_152564.5(VPS13B):c.8792+1G>T rs1415714103 0.00001
NM_152564.5(VPS13B):c.8827C>T (p.Arg2943Ter) rs755996065 0.00001
NM_183235.3(RAB27A):c.245G>A (p.Arg82His) rs140640177 0.00001
GRCh37/hg19 1q21.3(chr1:154247426-154248177)
GRCh37/hg19 8q22.2(chr8:99096530-99142877)x4
NC_000001.10:g.(?_154246017)_(154247306_?)del
NC_000001.10:g.(?_235850229)_(235860592_?)del
NC_000001.10:g.(?_235850329)_(235858090_?)del
NC_000001.10:g.(?_235950490)_(235964407_?)dup
NC_000001.11:g.(?_154274930)_(154275721_?)del
NC_000008.10:g.(100155394_100160068)_(100168972_100182266)del
NC_000008.10:g.(100155394_100160068)_(100396546_100403784)del
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_000008.11:g.(?_99134631)_(99511512_?)dup
NC_000008.11:g.(?_99192876)_(99209768_?)dup
NC_000008.11:g.(?_99209582)_(99275264_?)del
NC_000023.10:g.(?_153640181)_(153641904_?)del
NM_000081.4(LYST):c.10095G>C (p.Lys3365Asn)
NM_000081.4(LYST):c.10100del (p.Lys3367fs)
NM_000081.4(LYST):c.10127A>G (p.Asn3376Ser) rs80338669
NM_000081.4(LYST):c.10156del (p.Met3386fs)
NM_000081.4(LYST):c.1019del (p.Ser340fs)
NM_000081.4(LYST):c.10345C>T (p.Arg3449Ter) rs754616030
NM_000081.4(LYST):c.10411dup (p.Glu3471fs)
NM_000081.4(LYST):c.10443_10454delinsCC (p.Val3482fs)
NM_000081.4(LYST):c.10489C>T (p.Gln3497Ter)
NM_000081.4(LYST):c.1050del (p.Asn352fs)
NM_000081.4(LYST):c.10524dup (p.Arg3509fs)
NM_000081.4(LYST):c.10564+1G>T
NM_000081.4(LYST):c.10643T>A (p.Leu3548Ter)
NM_000081.4(LYST):c.10663_10691dup (p.Gln3564delinsHisLeuGlnTer)
NM_000081.4(LYST):c.10681C>T (p.Gln3561Ter)
NM_000081.4(LYST):c.10812del (p.Ile3604fs)
NM_000081.4(LYST):c.10813G>T (p.Glu3605Ter)
NM_000081.4(LYST):c.10883dup (p.Tyr3628Ter)
NM_000081.4(LYST):c.10941-2A>G
NM_000081.4(LYST):c.11173G>A (p.Gly3725Arg)
NM_000081.4(LYST):c.124del (p.Gly43fs)
NM_000081.4(LYST):c.148C>T (p.Arg50Ter) rs80338643
NM_000081.4(LYST):c.1518T>G (p.Tyr506Ter)
NM_000081.4(LYST):c.1868del (p.Gln622_Leu623insTer)
NM_000081.4(LYST):c.192+1G>A
NM_000081.4(LYST):c.2016C>A (p.Tyr672Ter)
NM_000081.4(LYST):c.2275del (p.Ser759fs)
NM_000081.4(LYST):c.2341_2342del (p.Leu781fs)
NM_000081.4(LYST):c.2374_2375del (p.Asp792fs)
NM_000081.4(LYST):c.2413G>T (p.Glu805Ter)
NM_000081.4(LYST):c.2437del (p.Arg813fs)
NM_000081.4(LYST):c.265C>T (p.Gln89Ter)
NM_000081.4(LYST):c.2962C>T (p.Arg988Ter)
NM_000081.4(LYST):c.3170del (p.Lys1057fs)
NM_000081.4(LYST):c.3202C>T (p.Gln1068Ter)
NM_000081.4(LYST):c.326_338del (p.Glu109fs)
NM_000081.4(LYST):c.3384dup (p.Pro1129fs)
NM_000081.4(LYST):c.3433del (p.His1145fs)
NM_000081.4(LYST):c.3601del (p.Ser1201fs)
NM_000081.4(LYST):c.3655G>T (p.Glu1219Ter)
NM_000081.4(LYST):c.3712+2T>C
NM_000081.4(LYST):c.3713-2A>C
NM_000081.4(LYST):c.3996del (p.Asp1333fs)
NM_000081.4(LYST):c.4006+2T>C
NM_000081.4(LYST):c.4116+1G>A
NM_000081.4(LYST):c.4117-2A>G
NM_000081.4(LYST):c.4324_4325del (p.Ser1442fs)
NM_000081.4(LYST):c.4333del (p.His1445fs)
NM_000081.4(LYST):c.4433G>A (p.Trp1478Ter)
NM_000081.4(LYST):c.4543+1G>A
NM_000081.4(LYST):c.484C>T (p.Gln162Ter)
NM_000081.4(LYST):c.4858C>T (p.Gln1620Ter)
NM_000081.4(LYST):c.4862+2T>A
NM_000081.4(LYST):c.4863-1G>C
NM_000081.4(LYST):c.4863-4G>T
NM_000081.4(LYST):c.4969G>T (p.Glu1657Ter)
NM_000081.4(LYST):c.5023+1G>A
NM_000081.4(LYST):c.5214+1G>C
NM_000081.4(LYST):c.5491C>T (p.Gln1831Ter)
NM_000081.4(LYST):c.5719A>G (p.Ile1907Val)
NM_000081.4(LYST):c.5772G>A (p.Trp1924Ter)
NM_000081.4(LYST):c.5922+1G>A
NM_000081.4(LYST):c.5923-1G>A
NM_000081.4(LYST):c.5923-2A>G
NM_000081.4(LYST):c.5956C>T (p.Arg1986Ter)
NM_000081.4(LYST):c.6050T>G (p.Leu2017Ter)
NM_000081.4(LYST):c.6132_6133del (p.Phe2045fs)
NM_000081.4(LYST):c.6254-1G>C
NM_000081.4(LYST):c.6380del (p.Cys2127fs)
NM_000081.4(LYST):c.6616C>T (p.Gln2206Ter)
NM_000081.4(LYST):c.6712C>T (p.Arg2238Ter)
NM_000081.4(LYST):c.6720_6721del (p.His2240fs)
NM_000081.4(LYST):c.6862C>T (p.Arg2288Ter)
NM_000081.4(LYST):c.6882-1G>T
NM_000081.4(LYST):c.7010T>A (p.Leu2337Ter)
NM_000081.4(LYST):c.7045C>T (p.Gln2349Ter)
NM_000081.4(LYST):c.7135dup (p.Leu2379fs)
NM_000081.4(LYST):c.7136T>C (p.Leu2379Pro)
NM_000081.4(LYST):c.7291del (p.Leu2431fs)
NM_000081.4(LYST):c.7460+2T>A
NM_000081.4(LYST):c.7460+3_7460+6del
NM_000081.4(LYST):c.7461-1G>A
NM_000081.4(LYST):c.7551dup (p.Gln2518fs)
NM_000081.4(LYST):c.772T>C (p.Cys258Arg)
NM_000081.4(LYST):c.7781-1G>T
NM_000081.4(LYST):c.7921C>T (p.Gln2641Ter)
NM_000081.4(LYST):c.8156C>G (p.Ser2719Ter)
NM_000081.4(LYST):c.8284A>T (p.Lys2762Ter)
NM_000081.4(LYST):c.8358+1G>C
NM_000081.4(LYST):c.8358+2T>C
NM_000081.4(LYST):c.8358+2T>G
NM_000081.4(LYST):c.8378del (p.Leu2793fs)
NM_000081.4(LYST):c.8425dup (p.Glu2809fs)
NM_000081.4(LYST):c.8443G>T (p.Glu2815Ter)
NM_000081.4(LYST):c.8469dup (p.Cys2824fs)
NM_000081.4(LYST):c.8613-2A>T
NM_000081.4(LYST):c.8768G>A (p.Trp2923Ter)
NM_000081.4(LYST):c.8801+1G>A
NM_000081.4(LYST):c.8802-2A>G
NM_000081.4(LYST):c.8869C>T (p.Arg2957Ter)
NM_000081.4(LYST):c.9044+1G>A
NM_000081.4(LYST):c.9045_9046del
NM_000081.4(LYST):c.9070del (p.Ala3024fs)
NM_000081.4(LYST):c.9200G>A (p.Trp3067Ter)
NM_000081.4(LYST):c.9219_9222del (p.Glu3074fs)
NM_000081.4(LYST):c.9245dup (p.Leu3082fs)
NM_000081.4(LYST):c.9333C>A (p.Tyr3111Ter)
NM_000081.4(LYST):c.9475del (p.Asp3159fs)
NM_000081.4(LYST):c.9620_9621dup (p.Tyr3208fs)
NM_000081.4(LYST):c.9624C>A (p.Tyr3208Ter)
NM_000081.4(LYST):c.9626del (p.Lys3209fs)
NM_000081.4(LYST):c.9627+1G>A
NM_000081.4(LYST):c.969dup (p.Gln324fs)
NM_000081.4(LYST):c.9784+1G>T
NM_000081.4(LYST):c.9827_9832del (p.Asn3276_Thr3277del)
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.98_105del (p.Glu33fs)
NM_000081.4(LYST):c.9925+1G>T
NM_000081.4(LYST):c.9925+2T>C
NM_000081.4(LYST):c.9988del (p.Ala3330fs)
NM_000116.5(TAFAZZIN):c.109+5G>A rs2148185111
NM_000116.5(TAFAZZIN):c.109+5G>C rs2148185111
NM_000116.5(TAFAZZIN):c.124del (p.His41_Leu42insTer)
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter) rs104894941
NM_000116.5(TAFAZZIN):c.163G>T (p.Glu55Ter)
NM_000116.5(TAFAZZIN):c.171del (p.Gly58fs)
NM_000116.5(TAFAZZIN):c.208C>T (p.Gln70Ter) rs397515738
NM_000116.5(TAFAZZIN):c.215G>T (p.Cys72Phe)
NM_000116.5(TAFAZZIN):c.222C>A (p.Asp74Glu)
NM_000116.5(TAFAZZIN):c.227C>G (p.Pro76Arg) rs878853654
NM_000116.5(TAFAZZIN):c.236_238+5del rs2068331233
NM_000116.5(TAFAZZIN):c.238+2T>G
NM_000116.5(TAFAZZIN):c.238+2_238+9del rs1603376938
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.280C>G (p.Arg94Gly)
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.284+5G>A
NM_000116.5(TAFAZZIN):c.285G>A (p.Trp95Ter)
NM_000116.5(TAFAZZIN):c.294delinsTTAAGGACCCCT (p.Ala98_Ala99insTer)
NM_000116.5(TAFAZZIN):c.307T>C (p.Cys103Arg) rs397515740
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro) rs397515739
NM_000116.5(TAFAZZIN):c.329_334del (p.Ser110_His111del)
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.350del (p.Lys117fs)
NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)
NM_000116.5(TAFAZZIN):c.370G>C (p.Gly124Arg)
NM_000116.5(TAFAZZIN):c.51G>A (p.Trp17Ter)
NM_000116.5(TAFAZZIN):c.528_541+7del rs2068570435
NM_000116.5(TAFAZZIN):c.532T>A (p.Phe178Ile)
NM_000116.5(TAFAZZIN):c.541+1G>T
NM_000116.5(TAFAZZIN):c.542-2A>G rs2068574381
NM_000116.5(TAFAZZIN):c.542-3C>G rs781795144
NM_000116.5(TAFAZZIN):c.54_55del (p.Leu19fs)
NM_000116.5(TAFAZZIN):c.580_583+10del
NM_000116.5(TAFAZZIN):c.584-1G>A
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) rs397515746
NM_000116.5(TAFAZZIN):c.609T>A (p.Cys203Ter)
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg) rs1085307797
NM_000116.5(TAFAZZIN):c.647G>T (p.Gly216Val) rs727504431
NM_000116.5(TAFAZZIN):c.688del (p.Arg230fs) rs1569552936
NM_000116.5(TAFAZZIN):c.699+1G>T
NM_000116.5(TAFAZZIN):c.700-1del
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg) rs387907218
NM_000116.5(TAFAZZIN):c.747_748insCGGGCGCCGGCGGCTCTCC (p.Glu250fs)
NM_000116.5(TAFAZZIN):c.748G>T (p.Glu250Ter)
NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter) rs2068606445
NM_000116.5(TAFAZZIN):c.777+1G>A rs2068606932
NM_000116.5(TAFAZZIN):c.778-2A>G rs876661112
NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu) rs1557194488
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter) rs397515750
NM_000116.5(TAFAZZIN):c.836del (p.Thr279fs) rs1557194525
NM_000377.3(WAS):c.1339-2A>G rs2147267240
NM_000377.3(WAS):c.142A>C (p.Thr48Pro) rs2062412197
NM_000377.3(WAS):c.209G>T (p.Gly70Val)
NM_000377.3(WAS):c.250T>C (p.Phe84Leu) rs2147262951
NM_000377.3(WAS):c.373G>C (p.Gly125Arg) rs2147263882
NM_000377.3(WAS):c.383T>G (p.Phe128Cys)
NM_000377.3(WAS):c.463+1G>A
NM_000377.3(WAS):c.506-1G>C
NM_000377.3(WAS):c.777+3_777+6del rs2147265717
NM_000377.3(WAS):c.814T>C (p.Ser272Pro) rs387906716
NM_000377.3(WAS):c.832G>T (p.Glu278Ter)
NM_000377.3(WAS):c.869T>C (p.Ile290Thr) rs2062426981
NM_000760.4(CSF3R):c.1576+1G>A rs1031224658
NM_000760.4(CSF3R):c.1576+2T>A
NM_000760.4(CSF3R):c.1577-1G>A
NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile) rs796065343
NM_000760.4(CSF3R):c.361+1G>T
NM_000760.4(CSF3R):c.65-1G>A
NM_000760.4(CSF3R):c.65-2A>C
NM_000760.4(CSF3R):c.843+2T>C rs1650834071
NM_000760.4(CSF3R):c.922C>T (p.Arg308Cys) rs606231473
NM_000760.4(CSF3R):c.998-1G>A rs1248511242
NM_000760.4(CSF3R):c.998-2A>T rs879253750
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.1063_1064insTTGGG (p.Glu355fs)
NM_001164277.2(SLC37A4):c.1065del (p.Ser356fs)
NM_001164277.2(SLC37A4):c.1082del (p.Leu361fs)
NM_001164277.2(SLC37A4):c.1110_1117dup (p.Ala373fs)
NM_001164277.2(SLC37A4):c.1124+3_1124+6del rs782612223
NM_001164277.2(SLC37A4):c.1125-1G>A rs782202675
NM_001164277.2(SLC37A4):c.1149del (p.Phe384fs)
NM_001164277.2(SLC37A4):c.1201del (p.Glu401fs)
NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter) rs2134626266
NM_001164277.2(SLC37A4):c.1287_1290del (p.Ter430GluextTer?) rs1592107594
NM_001164277.2(SLC37A4):c.148+1G>A rs1943672400
NM_001164277.2(SLC37A4):c.148+2T>A
NM_001164277.2(SLC37A4):c.148+2T>C rs1449998297
NM_001164277.2(SLC37A4):c.148G>A (p.Gly50Arg)
NM_001164277.2(SLC37A4):c.163A>C (p.Ser55Arg) rs193302884
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.188_189delinsT (p.Ser63fs)
NM_001164277.2(SLC37A4):c.195dup (p.Val66fs)
NM_001164277.2(SLC37A4):c.202G>A (p.Gly68Arg) rs193302885
NM_001164277.2(SLC37A4):c.234G>A (p.Trp78Ter) rs781857990
NM_001164277.2(SLC37A4):c.269_270insTGGCTCCTGGT (p.Asn91fs) rs1555191580
NM_001164277.2(SLC37A4):c.276dup (p.Phe93fs) rs1555191573
NM_001164277.2(SLC37A4):c.344G>A (p.Gly115Glu)
NM_001164277.2(SLC37A4):c.344_345dup (p.Leu116fs) rs782604758
NM_001164277.2(SLC37A4):c.356_359dup (p.Cys121fs)
NM_001164277.2(SLC37A4):c.365G>A (p.Gly122Glu)
NM_001164277.2(SLC37A4):c.370del (p.Val124fs) rs1555191512
NM_001164277.2(SLC37A4):c.381+1G>A rs786204637
NM_001164277.2(SLC37A4):c.382-1G>T
NM_001164277.2(SLC37A4):c.382-1del rs1555191406
NM_001164277.2(SLC37A4):c.382-2A>G
NM_001164277.2(SLC37A4):c.398dup (p.Phe134fs) rs2134638421
NM_001164277.2(SLC37A4):c.494delinsACA (p.Trp165fs)
NM_001164277.2(SLC37A4):c.529del (p.Val177fs)
NM_001164277.2(SLC37A4):c.530_531dup (p.Val178fs)
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu) rs193302888
NM_001164277.2(SLC37A4):c.595del (p.Leu199fs) rs1474282972
NM_001164277.2(SLC37A4):c.59dup (p.Tyr21fs) rs1943676862
NM_001164277.2(SLC37A4):c.637del (p.Glu213fs)
NM_001164277.2(SLC37A4):c.649delinsGG (p.Leu217fs)
NM_001164277.2(SLC37A4):c.671dup (p.Tyr225fs)
NM_001164277.2(SLC37A4):c.676del (p.Leu226fs) rs1555191105
NM_001164277.2(SLC37A4):c.681G>A (p.Trp227Ter) rs2134635160
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del) rs121908977
NM_001164277.2(SLC37A4):c.708_709dup (p.Phe237fs) rs781869215
NM_001164277.2(SLC37A4):c.70T>C (p.Tyr24His) rs193302887
NM_001164277.2(SLC37A4):c.721dup (p.Thr241fs)
NM_001164277.2(SLC37A4):c.726C>A (p.Cys242Ter)
NM_001164277.2(SLC37A4):c.736T>C (p.Trp246Arg) rs193302878
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs) rs1447366650
NM_001164277.2(SLC37A4):c.785+2T>G rs1592111559
NM_001164277.2(SLC37A4):c.786-1G>A rs1943578039
NM_001164277.2(SLC37A4):c.786-2A>C
NM_001164277.2(SLC37A4):c.786-2A>G rs2134633880
NM_001164277.2(SLC37A4):c.788G>A (p.Ser263Asn)
NM_001164277.2(SLC37A4):c.805del (p.Leu269fs) rs1555190992
NM_001164277.2(SLC37A4):c.838G>C (p.Ala280Pro) rs1555190969
NM_001164277.2(SLC37A4):c.845_848del (p.Tyr282fs) rs1555190956
NM_001164277.2(SLC37A4):c.871+1G>A
NM_001164277.2(SLC37A4):c.872-1G>A
NM_001164277.2(SLC37A4):c.872-2A>C rs920196110
NM_001164277.2(SLC37A4):c.872-8_881del
NM_001164277.2(SLC37A4):c.882dup (p.Asn295fs)
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His) rs193302903
NM_001164277.2(SLC37A4):c.902A>C (p.His301Pro) rs193302891
NM_001164277.2(SLC37A4):c.912_913insGC (p.Leu305fs) rs1555190745
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup) rs786204477
NM_001164277.2(SLC37A4):c.92_94del (p.Phe31del) rs1432360280
NM_001164277.2(SLC37A4):c.935_936del (p.Thr312fs)
NM_001164277.2(SLC37A4):c.95_97del (p.Ser32del)
NM_001164277.2(SLC37A4):c.963_964del (p.Val322fs) rs1592109970
NM_001164277.2(SLC37A4):c.969_975del (p.Ser324fs)
NM_001164277.2(SLC37A4):c.976dup (p.Ser326fs) rs2134631242
NM_001164277.2(SLC37A4):c.981del (p.Lys328fs) rs1001301633
NM_001164277.2(SLC37A4):c.985+1G>A rs1943553565
NM_001164277.2(SLC37A4):c.986-1G>A
NM_001164277.2(SLC37A4):c.986-3_989del rs1555190559
NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln) rs1590753221
NM_001258392.3(CLPB):c.760G>T (p.Glu254Ter)
NM_001972.4(ELANE):c.127T>C (p.Phe43Leu)
NM_001972.4(ELANE):c.136T>C (p.Ser46Pro) rs2035616857
NM_001972.4(ELANE):c.182C>T (p.Ala61Val) rs137854447
NM_001972.4(ELANE):c.197T>G (p.Met66Arg)
NM_001972.4(ELANE):c.212G>T (p.Cys71Phe) rs878855315
NM_001972.4(ELANE):c.242G>C (p.Arg81Pro) rs762470485
NM_001972.4(ELANE):c.362T>G (p.Leu121Arg)
NM_001972.4(ELANE):c.367-1G>A
NM_001972.4(ELANE):c.367-1G>C rs1442062349
NM_001972.4(ELANE):c.368T>C (p.Leu123Pro) rs2145148405
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu) rs137854448
NM_001972.4(ELANE):c.458C>A (p.Ala153Asp)
NM_001972.4(ELANE):c.570G>A (p.Val190=)
NM_001972.4(ELANE):c.581_597dup (p.Gly200fs)
NM_001972.4(ELANE):c.583del (p.Ala195fs)
NM_001972.4(ELANE):c.598-3C>G rs730880095
NM_001972.4(ELANE):c.602del (p.Asp201fs) rs2035673569
NM_001972.4(ELANE):c.607G>A (p.Gly203Ser)
NM_001972.4(ELANE):c.618G>C (p.Leu206Phe) rs137854446
NM_001972.4(ELANE):c.622T>G (p.Cys208Gly) rs2145149526
NM_001972.4(ELANE):c.641G>A (p.Gly214Glu) rs1555710089
NM_001972.4(ELANE):c.661G>T (p.Gly221Ter) rs2035675760
NM_001972.4(ELANE):c.674C>G (p.Ser225Ter)
NM_001972.4(ELANE):c.731_732del (p.Ser244fs)
NM_003467.3(CXCR4):c.1012del (p.Ser338fs)
NM_003467.3(CXCR4):c.1013C>A (p.Ser338Ter) rs104893626
NM_003467.3(CXCR4):c.950_953del (p.Leu317fs) rs1573613529
NM_003664.5(AP3B1):c.1020del (p.Arg341fs)
NM_003664.5(AP3B1):c.1041-2A>G
NM_003664.5(AP3B1):c.1042G>T (p.Glu348Ter)
NM_003664.5(AP3B1):c.1206_1207del (p.Ser403fs)
NM_003664.5(AP3B1):c.129-1G>A
NM_003664.5(AP3B1):c.1364-2A>G rs2112357253
NM_003664.5(AP3B1):c.1379_1382dup (p.Ser461fs)
NM_003664.5(AP3B1):c.1474-2A>G
NM_003664.5(AP3B1):c.1521_1522del (p.Cys507_Glu508delinsTer)
NM_003664.5(AP3B1):c.1651-1G>A
NM_003664.5(AP3B1):c.1837+2T>C rs2112300864
NM_003664.5(AP3B1):c.1852C>T (p.Gln618Ter)
NM_003664.5(AP3B1):c.1945C>T (p.Arg649Ter)
NM_003664.5(AP3B1):c.2078-1G>A
NM_003664.5(AP3B1):c.2297del (p.Asp766fs)
NM_003664.5(AP3B1):c.2354_2355del (p.Glu785fs)
NM_003664.5(AP3B1):c.2398_2401del (p.Glu800fs)
NM_003664.5(AP3B1):c.2640del (p.Gly881fs)
NM_003664.5(AP3B1):c.280-2A>G
NM_003664.5(AP3B1):c.2894+1G>T
NM_003664.5(AP3B1):c.2898del (p.Lys967fs)
NM_003664.5(AP3B1):c.3015_3016dup (p.Thr1006fs)
NM_003664.5(AP3B1):c.310C>T (p.Arg104Ter) rs1746480237
NM_003664.5(AP3B1):c.3149_3150del (p.Val1050fs)
NM_003664.5(AP3B1):c.364C>T (p.Arg122Ter)
NM_003664.5(AP3B1):c.395G>C (p.Arg132Pro)
NM_003664.5(AP3B1):c.543_553del (p.Asp181fs)
NM_003664.5(AP3B1):c.724dup (p.Val242fs)
NM_003664.5(AP3B1):c.786+1G>A
NM_003664.5(AP3B1):c.942+1G>T
NM_005257.6(GATA6):c.1358C>A (p.Thr453Asn)
NM_006118.4(HAX1):c.314del (p.Pro105fs)
NM_006118.4(HAX1):c.463dup (p.Gln155fs) rs1572018886
NM_006118.4(HAX1):c.504+1G>A rs2149140065
NM_006118.4(HAX1):c.53+1G>A
NM_006118.4(HAX1):c.54-2A>T rs764765550
NM_006118.4(HAX1):c.556+1G>A
NM_006118.4(HAX1):c.556+1G>C rs1684901295
NM_006118.4(HAX1):c.556+1_556+2dup
NM_006118.4(HAX1):c.557-1G>A
NM_006118.4(HAX1):c.557-1G>C rs1684904805
NM_006118.4(HAX1):c.57_58del (p.His19fs)
NM_006118.4(HAX1):c.601C>T (p.Gln201Ter)
NM_006118.4(HAX1):c.607dup (p.Gln203fs)
NM_006118.4(HAX1):c.663+1G>C
NM_006118.4(HAX1):c.664-1G>A
NM_006118.4(HAX1):c.664-1G>T rs2149140690
NM_006118.4(HAX1):c.81_83delinsT (p.Met27fs)
NM_015295.3(SMCHD1):c.424+1G>A rs1555625396
NM_017890.4(VPS13B):c.10018_10021delGTTG rs1554579522
NM_017890.4(VPS13B):c.6733_6748del16
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs) rs774357106
NM_017890.4:c.3542_3543ins5
NM_017890.4:c.7128_7129ins5
NM_017890.5(VPS13B):c.4158-2A>G rs2133626470
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs) rs1427643616
NM_024598.4(USB1):c.345del (p.Arg115_Met116insTer) rs1555498120
NM_024598.4(USB1):c.370T>C (p.Ser124Pro) rs1597049287
NM_024598.4(USB1):c.623A>G (p.His208Arg) rs1249059283
NM_024598.4(USB1):c.63del (p.Met22fs) rs747958554
NM_032492.4(JAGN1):c.40G>A (p.Gly14Ser) rs786205704
NM_138387.4(G6PC3):c.144C>G (p.Tyr48Ter) rs1194477276
NM_138387.4(G6PC3):c.325+2T>G
NM_138387.4(G6PC3):c.325G>A (p.Gly109Ser)
NM_138387.4(G6PC3):c.326-2A>G
NM_138387.4(G6PC3):c.326-3_343del
NM_138387.4(G6PC3):c.337G>A (p.Gly113Arg) rs2144147052
NM_138387.4(G6PC3):c.416+1G>A
NM_138387.4(G6PC3):c.417-1G>A
NM_138387.4(G6PC3):c.536-2A>G
NM_138387.4(G6PC3):c.678-1G>T
NM_152564.5(VPS13B):c.10001_10002del (p.Thr3334fs) rs386834054
NM_152564.5(VPS13B):c.1001del (p.Tyr334fs) rs1057516324
NM_152564.5(VPS13B):c.10035dup (p.Gly3346fs)
NM_152564.5(VPS13B):c.10062-2A>G rs1554581156
NM_152564.5(VPS13B):c.1006C>T (p.Gln336Ter) rs1554625617
NM_152564.5(VPS13B):c.10106T>G (p.Leu3369Ter) rs1057516437
NM_152564.5(VPS13B):c.10148C>G (p.Ser3383Ter) rs1014479884
NM_152564.5(VPS13B):c.10166_10167del (p.Leu3389fs) rs1554581267
NM_152564.5(VPS13B):c.1018_1045del (p.Glu340fs)
NM_152564.5(VPS13B):c.1027C>T (p.Gln343Ter) rs1554625632
NM_152564.5(VPS13B):c.10282C>T (p.Gln3428Ter)
NM_152564.5(VPS13B):c.10285dup (p.Leu3429fs) rs1563509743
NM_152564.5(VPS13B):c.10361_10364del (p.Ile3454fs) rs1554581430
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs) rs180177371
NM_152564.5(VPS13B):c.1040del (p.Ser347fs) rs1057516971
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.10555_10556del (p.Leu3519fs) rs1554581632
NM_152564.5(VPS13B):c.10558_10561del (p.Phe3520fs) rs1354326532
NM_152564.5(VPS13B):c.10604_10605del (p.His3535fs) rs1554581676
NM_152564.5(VPS13B):c.10661T>A (p.Leu3554Ter)
NM_152564.5(VPS13B):c.10673dup (p.Lys3559fs) rs1057517137
NM_152564.5(VPS13B):c.10675A>T (p.Lys3559Ter)
NM_152564.5(VPS13B):c.1071_1074del (p.Ser358fs) rs1554625693
NM_152564.5(VPS13B):c.10735A>T (p.Lys3579Ter) rs1057520769
NM_152564.5(VPS13B):c.10766_10769del (p.Leu3589fs) rs386834056
NM_152564.5(VPS13B):c.10772_10774del (p.Phe3591del) rs1554581821
NM_152564.5(VPS13B):c.1079_1080delinsG (p.Asp360fs) rs1057516274
NM_152564.5(VPS13B):c.107delinsAA (p.Val36fs) rs1554561356
NM_152564.5(VPS13B):c.10805_10824delinsTT (p.Thr3602_His3608delinsIle)
NM_152564.5(VPS13B):c.10813C>T (p.Gln3605Ter) rs120074154
NM_152564.5(VPS13B):c.10867+1G>T rs780902262
NM_152564.5(VPS13B):c.10868-2A>C rs745404712
NM_152564.5(VPS13B):c.10868-2A>G
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter) rs386834057
NM_152564.5(VPS13B):c.11016_11034del (p.Thr3673fs)
NM_152564.5(VPS13B):c.11044+1G>A
NM_152564.5(VPS13B):c.11050del (p.Leu3684fs) rs386834058
NM_152564.5(VPS13B):c.11105_11114del (p.Ser3702fs) rs1057517202
NM_152564.5(VPS13B):c.11141G>A (p.Trp3714Ter) rs386834060
NM_152564.5(VPS13B):c.11162_11163del (p.Ser3721fs) rs1057517376
NM_152564.5(VPS13B):c.11181_11215+10del
NM_152564.5(VPS13B):c.11216-1G>A rs1057517441
NM_152564.5(VPS13B):c.11216-2A>G rs867112705
NM_152564.5(VPS13B):c.11236del (p.Asp3746fs) rs1347701279
NM_152564.5(VPS13B):c.11263del (p.Thr3755fs) rs1057516245
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs) rs1554586953
NM_152564.5(VPS13B):c.11360del (p.Gly3787fs) rs1554586972
NM_152564.5(VPS13B):c.11380_11381del (p.Gln3794fs) rs1554586994
NM_152564.5(VPS13B):c.11392+1G>T rs1554587021
NM_152564.5(VPS13B):c.11393-1G>A rs747363890
NM_152564.5(VPS13B):c.11393-1G>C
NM_152564.5(VPS13B):c.11419C>T (p.Gln3807Ter) rs2130972411
NM_152564.5(VPS13B):c.11430del (p.Lys3810fs) rs386834062
NM_152564.5(VPS13B):c.11471_11474delinsTGT (p.Pro3824fs) rs1057516284
NM_152564.5(VPS13B):c.11481dup (p.Val3828fs) rs386834063
NM_152564.5(VPS13B):c.11489del (p.Tyr3830fs) rs386834064
NM_152564.5(VPS13B):c.11495+178_11507delinsCAG
NM_152564.5(VPS13B):c.11495+1G>A
NM_152564.5(VPS13B):c.11496-2A>G rs1554588353
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.11523del (p.Glu3842fs) rs386834065
NM_152564.5(VPS13B):c.11575del (p.His3859fs) rs1057516651
NM_152564.5(VPS13B):c.11583dup (p.Cys3862fs) rs1057517438
NM_152564.5(VPS13B):c.11600C>A (p.Ser3867Ter) rs1057517385
NM_152564.5(VPS13B):c.11620_11621del (p.Ser3874fs) rs1554588477
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs) rs386834066
NM_152564.5(VPS13B):c.11630_11631delinsC (p.Glu3877fs) rs1554588489
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_11709delinsAA (p.Thr3902_Val3903delinsLys) rs386834067
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs) rs386834067
NM_152564.5(VPS13B):c.11748_11751dup (p.Gly3918fs) rs1554590314
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_152564.5(VPS13B):c.11786del (p.Asn3929fs)
NM_152564.5(VPS13B):c.11809_11810dup (p.Thr3938fs) rs1371736348
NM_152564.5(VPS13B):c.11831_11840del (p.Pro3944fs) rs386834069
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs) rs786204456
NM_152564.5(VPS13B):c.11832dup (p.Ser3945fs) rs180177374
NM_152564.5(VPS13B):c.11837del (p.Cys3946fs)
NM_152564.5(VPS13B):c.11838T>A (p.Cys3946Ter) rs773094891
NM_152564.5(VPS13B):c.11850_11853dup (p.Pro3952fs) rs1554590433
NM_152564.5(VPS13B):c.1187del (p.Lys396fs) rs1554625872
NM_152564.5(VPS13B):c.11880dup (p.Pro3961fs) rs1057517328
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_152564.5(VPS13B):c.1225G>T (p.Glu409Ter) rs386834071
NM_152564.5(VPS13B):c.1264G>T (p.Glu422Ter)
NM_152564.5(VPS13B):c.1269_1273del (p.Cys425fs) rs386834072
NM_152564.5(VPS13B):c.1275T>A (p.Cys425Ter)
NM_152564.5(VPS13B):c.1277G>A (p.Trp426Ter)
NM_152564.5(VPS13B):c.1297del (p.Val433fs)
NM_152564.5(VPS13B):c.1303-1G>C rs1554634091
NM_152564.5(VPS13B):c.1306del (p.Leu436_Met437insTer) rs1408744761
NM_152564.5(VPS13B):c.1315G>T (p.Gly439Ter)
NM_152564.5(VPS13B):c.147+1G>C
NM_152564.5(VPS13B):c.148-2A>G rs768406797
NM_152564.5(VPS13B):c.1482del (p.Thr495fs) rs2132556658
NM_152564.5(VPS13B):c.1490C>A (p.Ser497Ter)
NM_152564.5(VPS13B):c.1495_1498del (p.Phe499fs) rs1057517319
NM_152564.5(VPS13B):c.1563+1G>A rs1057516923
NM_152564.5(VPS13B):c.1563+1G>T rs1057516923
NM_152564.5(VPS13B):c.1563G>A (p.Lys521=) rs180177355
NM_152564.5(VPS13B):c.1564G>T (p.Glu522Ter)
NM_152564.5(VPS13B):c.1571del (p.Tyr524fs)
NM_152564.5(VPS13B):c.1651+1G>T
NM_152564.5(VPS13B):c.1652-2A>T rs2132580903
NM_152564.5(VPS13B):c.1664_1671del (p.Gln555fs) rs1057517177
NM_152564.5(VPS13B):c.1669del (p.Asp557fs) rs1057517283
NM_152564.5(VPS13B):c.1703_1710delinsAAGTGAA (p.Thr568fs)
NM_152564.5(VPS13B):c.1843+1G>A
NM_152564.5(VPS13B):c.1844-2A>G rs386834073
NM_152564.5(VPS13B):c.1900G>T (p.Glu634Ter)
NM_152564.5(VPS13B):c.1944T>A (p.Cys648Ter)
NM_152564.5(VPS13B):c.2011_2015del (p.Lys671fs) rs1057517338
NM_152564.5(VPS13B):c.2013+2341_2166del
NM_152564.5(VPS13B):c.2014-1G>T
NM_152564.5(VPS13B):c.2018C>G (p.Ser673Ter) rs1554645551
NM_152564.5(VPS13B):c.2047del (p.Gln683fs) rs386834074
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter) rs777593389
NM_152564.5(VPS13B):c.2178_2200del (p.His727fs) rs2132624625
NM_152564.5(VPS13B):c.219_220delinsT (p.Lys73fs) rs386834075
NM_152564.5(VPS13B):c.2209-2A>G
NM_152564.5(VPS13B):c.2221C>T (p.Gln741Ter)
NM_152564.5(VPS13B):c.2247C>A (p.Cys749Ter)
NM_152564.5(VPS13B):c.2268del (p.Val757fs) rs1057516532
NM_152564.5(VPS13B):c.22_23delinsA (p.Pro8fs) rs386834076
NM_152564.5(VPS13B):c.2333+1G>T rs1812243683
NM_152564.5(VPS13B):c.2333+2T>C rs1554652265
NM_152564.5(VPS13B):c.2334-2A>G rs1554665974
NM_152564.5(VPS13B):c.2341A>T (p.Arg781Ter) rs1057516681
NM_152564.5(VPS13B):c.2356dup (p.Ile786fs)
NM_152564.5(VPS13B):c.2362G>T (p.Glu788Ter) rs1554666009
NM_152564.5(VPS13B):c.2516-2A>G rs1554706114
NM_152564.5(VPS13B):c.2552_2559del (p.Gly851fs) rs1554706149
NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter) rs140936527
NM_152564.5(VPS13B):c.2650+1G>A rs1554706285
NM_152564.5(VPS13B):c.2651-1G>A rs386834077
NM_152564.5(VPS13B):c.2690del (p.Gly897fs)
NM_152564.5(VPS13B):c.2691_2692delinsAAT (p.Pro898fs) rs1554706662
NM_152564.5(VPS13B):c.2727_2730dup (p.Asn911fs) rs180177357
NM_152564.5(VPS13B):c.2759T>A (p.Leu920Ter)
NM_152564.5(VPS13B):c.2816delinsCC (p.His939fs) rs1057517255
NM_152564.5(VPS13B):c.2824+2T>G rs141703746
NM_152564.5(VPS13B):c.2828del (p.Ala943fs) rs1554765140
NM_152564.5(VPS13B):c.2855del (p.Leu952fs) rs1554765173
NM_152564.5(VPS13B):c.2883T>A (p.Tyr961Ter)
NM_152564.5(VPS13B):c.2889del (p.Trp963fs) rs1563700124
NM_152564.5(VPS13B):c.2908A>T (p.Lys970Ter)
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.292-7A>G rs1554612610
NM_152564.5(VPS13B):c.2934+1G>T rs775729058
NM_152564.5(VPS13B):c.2934+1_2934+2del rs180177358
NM_152564.5(VPS13B):c.2934+2T>A
NM_152564.5(VPS13B):c.2934+2T>C
NM_152564.5(VPS13B):c.2935-1G>A rs2133312466
NM_152564.5(VPS13B):c.2980A>T (p.Lys994Ter)
NM_152564.5(VPS13B):c.3020del (p.Lys1007fs) rs1554767735
NM_152564.5(VPS13B):c.3027_3045dup (p.Tyr1016delinsIleIleSerGlyLeuTer) rs1057516670
NM_152564.5(VPS13B):c.3072_3073delinsT (p.Lys1024fs) rs1057516834
NM_152564.5(VPS13B):c.3082+1G>A
NM_152564.5(VPS13B):c.3083-1G>A rs1563726973
NM_152564.5(VPS13B):c.3096del (p.Leu1032fs) rs1554788238
NM_152564.5(VPS13B):c.3104del (p.Pro1035fs) rs1057516926
NM_152564.5(VPS13B):c.3133del (p.Ser1045fs) rs1057517447
NM_152564.5(VPS13B):c.3154A>T (p.Arg1052Ter)
NM_152564.5(VPS13B):c.3160A>T (p.Lys1054Ter)
NM_152564.5(VPS13B):c.3172G>T (p.Gly1058Ter)
NM_152564.5(VPS13B):c.3208del (p.Gln1070fs)
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs) rs764544747
NM_152564.5(VPS13B):c.3309G>A (p.Trp1103Ter)
NM_152564.5(VPS13B):c.3349dup (p.Cys1117fs) rs1554793521
NM_152564.5(VPS13B):c.3439G>T (p.Glu1147Ter)
NM_152564.5(VPS13B):c.3445+1G>T rs1034855385
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.3587dup (p.Pro1197fs)
NM_152564.5(VPS13B):c.3618T>A (p.Cys1206Ter) rs386834081
NM_152564.5(VPS13B):c.3666+1G>T rs1554807146
NM_152564.5(VPS13B):c.3666+2T>A rs386834082
NM_152564.5(VPS13B):c.3666+2T>C rs386834082
NM_152564.5(VPS13B):c.3667-1G>A rs750609612
NM_152564.5(VPS13B):c.3681T>A (p.Tyr1227Ter) rs1554814266
NM_152564.5(VPS13B):c.3686dup (p.Thr1230fs) rs1554814271
NM_152564.5(VPS13B):c.376C>T (p.Gln126Ter) rs1057516422
NM_152564.5(VPS13B):c.3782del (p.Pro1261fs) rs753645306
NM_152564.5(VPS13B):c.3870+1G>A rs764225649
NM_152564.5(VPS13B):c.3870+1G>T rs764225649
NM_152564.5(VPS13B):c.3902dup (p.Phe1302fs) rs1057516653
NM_152564.5(VPS13B):c.3975G>A (p.Trp1325Ter)
NM_152564.5(VPS13B):c.4042+2T>C rs1554822819
NM_152564.5(VPS13B):c.404dup (p.Leu135fs) rs386834083
NM_152564.5(VPS13B):c.4096dup (p.Asp1366fs)
NM_152564.5(VPS13B):c.4108A>T (p.Lys1370Ter)
NM_152564.5(VPS13B):c.4119T>A (p.Cys1373Ter)
NM_152564.5(VPS13B):c.412+1G>A rs1057517295
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.424_425del (p.Leu143fs) rs1057517076
NM_152564.5(VPS13B):c.4259del (p.Gln1420fs) rs386834084
NM_152564.5(VPS13B):c.4286_4287insT (p.Ala1431fs) rs2133637251
NM_152564.5(VPS13B):c.428del (p.Leu143fs)
NM_152564.5(VPS13B):c.4304dup (p.Asn1435fs)
NM_152564.5(VPS13B):c.4319T>A (p.Leu1440Ter)
NM_152564.5(VPS13B):c.4321dup (p.Thr1441fs) rs386834085
NM_152564.5(VPS13B):c.4399del (p.Ile1467fs) rs386834087
NM_152564.5(VPS13B):c.4402CTT[1] (p.Leu1469del) rs386834088
NM_152564.5(VPS13B):c.4445T>A (p.Leu1482Ter)
NM_152564.5(VPS13B):c.4471C>T (p.Gln1491Ter)
NM_152564.5(VPS13B):c.4497dup (p.Glu1500fs) rs386834089
NM_152564.5(VPS13B):c.4539_4540del (p.Leu1514fs) rs1554826566
NM_152564.5(VPS13B):c.4556T>A (p.Leu1519Ter)
NM_152564.5(VPS13B):c.4633+1G>A
NM_152564.5(VPS13B):c.4633+1G>C
NM_152564.5(VPS13B):c.4634-2A>G rs2133668102
NM_152564.5(VPS13B):c.467_470del (p.Asn156fs) rs386834090
NM_152564.5(VPS13B):c.4745+2T>C rs386834091
NM_152564.5(VPS13B):c.4746-1G>T rs768342041
NM_152564.5(VPS13B):c.4746-2A>T rs1554843814
NM_152564.5(VPS13B):c.4771C>T (p.Arg1591Ter) rs752429062
NM_152564.5(VPS13B):c.4803_4805dup (p.Tyr1602Ter) rs180177359
NM_152564.5(VPS13B):c.4819C>T (p.Gln1607Ter) rs1588491546
NM_152564.5(VPS13B):c.4848G>A (p.Trp1616Ter) rs180177360
NM_152564.5(VPS13B):c.4867A>T (p.Lys1623Ter)
NM_152564.5(VPS13B):c.4894dup (p.Thr1632fs) rs1554843942
NM_152564.5(VPS13B):c.4950-1G>C rs1554852945
NM_152564.5(VPS13B):c.4950-2A>G
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.5140_5157del (p.Ser1714_Gln1719del) rs180177362
NM_152564.5(VPS13B):c.5148del (p.Gln1717fs) rs2133812056
NM_152564.5(VPS13B):c.5154delinsCC (p.Gln1719fs) rs1554853667
NM_152564.5(VPS13B):c.5169del (p.Gln1723fs) rs1554853676
NM_152564.5(VPS13B):c.5226dup (p.Lys1743Ter) rs1554884575
NM_152564.5(VPS13B):c.5256dup (p.Asp1753Ter) rs386834094
NM_152564.5(VPS13B):c.5350dup (p.Glu1784fs) rs1829386213
NM_152564.5(VPS13B):c.5351_5352dup (p.Gln1785fs) rs180177363
NM_152564.5(VPS13B):c.5386dup (p.Arg1796fs) rs180177364
NM_152564.5(VPS13B):c.5402C>A (p.Ser1801Ter)
NM_152564.5(VPS13B):c.5538_5539insT (p.Lys1847Ter) rs1554884838
NM_152564.5(VPS13B):c.5652del (p.Lys1887_Ile1888insTer) rs1554884932
NM_152564.5(VPS13B):c.5662dup (p.Ile1888fs) rs386834096
NM_152564.5(VPS13B):c.5675del (p.Ser1892fs) rs386834097
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs) rs386834098
NM_152564.5(VPS13B):c.580+1G>A rs1846848656
NM_152564.5(VPS13B):c.580+1G>T rs1846848656
NM_152564.5(VPS13B):c.580+2T>C
NM_152564.5(VPS13B):c.581-1G>A
NM_152564.5(VPS13B):c.5829T>A (p.Cys1943Ter)
NM_152564.5(VPS13B):c.5842C>T (p.Gln1948Ter)
NM_152564.5(VPS13B):c.5908+1G>A
NM_152564.5(VPS13B):c.5908+2dup rs587777381
NM_152564.5(VPS13B):c.5909-1G>T rs1057516694
NM_152564.5(VPS13B):c.5923_5924del (p.Leu1975fs) rs886041323
NM_152564.5(VPS13B):c.5927del (p.Pro1976fs) rs755125969
NM_152564.5(VPS13B):c.5959C>T (p.Gln1987Ter)
NM_152564.5(VPS13B):c.6009del (p.Phe2003fs) rs1357171752
NM_152564.5(VPS13B):c.6046+1G>C rs750003804
NM_152564.5(VPS13B):c.6046+1G>T rs750003804
NM_152564.5(VPS13B):c.6047-1G>A rs750092574
NM_152564.5(VPS13B):c.6047-5_6047del rs1057516841
NM_152564.5(VPS13B):c.6049del (p.Asp2017fs)
NM_152564.5(VPS13B):c.6082del (p.Ala2028fs) rs1554911430
NM_152564.5(VPS13B):c.6125dup (p.Leu2042fs) rs1554911481
NM_152564.5(VPS13B):c.6140dup (p.Asn2047fs) rs2130179734
NM_152564.5(VPS13B):c.626_627del (p.Thr209fs) rs386834100
NM_152564.5(VPS13B):c.6299G>A (p.Trp2100Ter) rs1057516331
NM_152564.5(VPS13B):c.6319C>T (p.Gln2107Ter) rs1057516489
NM_152564.5(VPS13B):c.6343C>T (p.Gln2115Ter) rs1057516287
NM_152564.5(VPS13B):c.6345_6346del (p.Gln2115fs) rs386834101
NM_152564.5(VPS13B):c.6454+1G>C rs1235993153
NM_152564.5(VPS13B):c.6470C>A (p.Ser2157Ter) rs1057516494
NM_152564.5(VPS13B):c.6473C>G (p.Ser2158Ter)
NM_152564.5(VPS13B):c.6505A>T (p.Lys2169Ter)
NM_152564.5(VPS13B):c.6508del (p.Thr2170fs) rs1057517318
NM_152564.5(VPS13B):c.6552T>A (p.Cys2184Ter)
NM_152564.5(VPS13B):c.6612del (p.Gln2204fs) rs386834102
NM_152564.5(VPS13B):c.6655C>T (p.Gln2219Ter) rs1057516663
NM_152564.5(VPS13B):c.6657+1G>T rs180177366
NM_152564.5(VPS13B):c.6658-2A>G rs386834103
NM_152564.5(VPS13B):c.6829del (p.Leu2277fs) rs1057516302
NM_152564.5(VPS13B):c.6839del (p.Gly2280fs)
NM_152564.5(VPS13B):c.6866-1G>A
NM_152564.5(VPS13B):c.6982del (p.Thr2328fs) rs1554924412
NM_152564.5(VPS13B):c.7048C>T (p.Gln2350Ter) rs767858119
NM_152564.5(VPS13B):c.7050+1G>T rs1057516840
NM_152564.5(VPS13B):c.7073G>A (p.Trp2358Ter) rs1057516559
NM_152564.5(VPS13B):c.7144C>T (p.Gln2382Ter)
NM_152564.5(VPS13B):c.7146del (p.Gln2382fs) rs386834105
NM_152564.5(VPS13B):c.7154del (p.Asp2385fs)
NM_152564.5(VPS13B):c.7177A>T (p.Lys2393Ter)
NM_152564.5(VPS13B):c.7180A>T (p.Lys2394Ter) rs1057516660
NM_152564.5(VPS13B):c.7185dup (p.Val2396fs)
NM_152564.5(VPS13B):c.7195_7196dup (p.Asp2399fs)
NM_152564.5(VPS13B):c.7217del (p.Asn2406fs) rs886041184
NM_152564.5(VPS13B):c.7247+2043_7403del
NM_152564.5(VPS13B):c.7247+2T>C rs1563908020
NM_152564.5(VPS13B):c.7248-1G>C rs763079458
NM_152564.5(VPS13B):c.7311_7312insAGGCA (p.Ala2438fs) rs1554952465
NM_152564.5(VPS13B):c.7314dup (p.Cys2439fs) rs1554952467
NM_152564.5(VPS13B):c.7317T>A (p.Cys2439Ter)
NM_152564.5(VPS13B):c.7365del (p.Cys2455fs) rs1811766430
NM_152564.5(VPS13B):c.7396del (p.His2466fs) rs1554952554
NM_152564.5(VPS13B):c.7429+2T>C rs1057517393
NM_152564.5(VPS13B):c.7480G>T (p.Glu2494Ter)
NM_152564.5(VPS13B):c.7525C>G (p.Leu2509Val) rs1811867338
NM_152564.5(VPS13B):c.7535G>A (p.Trp2512Ter) rs386834108
NM_152564.5(VPS13B):c.760A>T (p.Lys254Ter) rs910393433
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.7651C>T (p.Gln2551Ter) rs2130679206
NM_152564.5(VPS13B):c.7732C>T (p.Gln2578Ter)
NM_152564.5(VPS13B):c.7779+1G>C
NM_152564.5(VPS13B):c.7779+1G>T
NM_152564.5(VPS13B):c.7859G>A (p.Gly2620Asp) rs120074153
NM_152564.5(VPS13B):c.7861del (p.Gln2621fs) rs386834109
NM_152564.5(VPS13B):c.7941+1G>A rs1554955952
NM_152564.5(VPS13B):c.795_798del (p.Ile266fs) rs1554622608
NM_152564.5(VPS13B):c.7964_7989del (p.Gly2655fs) rs1554560668
NM_152564.5(VPS13B):c.79C>T (p.Gln27Ter)
NM_152564.5(VPS13B):c.803del (p.Asp268fs) rs1554622622
NM_152564.5(VPS13B):c.8042_8043del (p.Gly2681fs) rs1554560735
NM_152564.5(VPS13B):c.8098-1G>C rs1554565484
NM_152564.5(VPS13B):c.80A>G (p.Gln27Arg) rs1587912461
NM_152564.5(VPS13B):c.8171_8175del (p.Tyr2724fs) rs1554565537
NM_152564.5(VPS13B):c.8182del (p.Asp2728fs) rs1554565558
NM_152564.5(VPS13B):c.8243C>T (p.Ser2748Leu) rs180177370
NM_152564.5(VPS13B):c.8266del (p.Glu2755_Leu2756insTer) rs386834111
NM_152564.5(VPS13B):c.8341G>T (p.Glu2781Ter) rs1379711249
NM_152564.5(VPS13B):c.8361+1G>A rs542757501
NM_152564.5(VPS13B):c.8362-1G>C
NM_152564.5(VPS13B):c.8396G>A (p.Trp2799Ter) rs1057516484
NM_152564.5(VPS13B):c.8445+1G>C
NM_152564.5(VPS13B):c.8445+2T>C rs1554566396
NM_152564.5(VPS13B):c.8446-1G>T rs1554566596
NM_152564.5(VPS13B):c.8536del (p.Thr2846fs) rs386834114
NM_152564.5(VPS13B):c.8559del (p.Gln2854fs) rs765302278
NM_152564.5(VPS13B):c.8575C>T (p.Gln2859Ter)
NM_152564.5(VPS13B):c.8621+2T>G rs1057517236
NM_152564.5(VPS13B):c.8622-1G>A
NM_152564.5(VPS13B):c.8622-2A>G rs386834115
NM_152564.5(VPS13B):c.8622-9A>G rs386834116
NM_152564.5(VPS13B):c.8626G>T (p.Glu2876Ter) rs747644844
NM_152564.5(VPS13B):c.8716C>T (p.Gln2906Ter)
NM_152564.5(VPS13B):c.8793-2A>G
NM_152564.5(VPS13B):c.8870T>A (p.Leu2957Ter) rs727504219
NM_152564.5(VPS13B):c.8883del (p.Trp2963fs) rs1057516845
NM_152564.5(VPS13B):c.889del (p.Glu296_Ile297insTer) rs1554622718
NM_152564.5(VPS13B):c.8953C>T (p.Gln2985Ter) rs1057516558
NM_152564.5(VPS13B):c.8991del (p.Gln2998fs) rs1057516276
NM_152564.5(VPS13B):c.8995-1G>A
NM_152564.5(VPS13B):c.8995-2A>G rs1554569259
NM_152564.5(VPS13B):c.9009del (p.Ile3003fs) rs1057516538
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs) rs759536357
NM_152564.5(VPS13B):c.916_917del (p.Asp306fs) rs386834117
NM_152564.5(VPS13B):c.9182del (p.Lys3061fs) rs1057516789
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.9185dup (p.Leu3062fs) rs180177329
NM_152564.5(VPS13B):c.9226C>T (p.Gln3076Ter)
NM_152564.5(VPS13B):c.9261_9267del (p.Asn3088fs)
NM_152564.5(VPS13B):c.9300_9303del (p.Val3102fs) rs773945333
NM_152564.5(VPS13B):c.9330+1G>A
NM_152564.5(VPS13B):c.9330+1G>C rs756013171
NM_152564.5(VPS13B):c.9330+2T>C rs1554570388
NM_152564.5(VPS13B):c.9331-1G>A rs386834119
NM_152564.5(VPS13B):c.9331-1G>T rs386834119
NM_152564.5(VPS13B):c.9337_9338del (p.Arg3113fs) rs754443525
NM_152564.5(VPS13B):c.937+1G>A
NM_152564.5(VPS13B):c.938-1G>C rs2132515671
NM_152564.5(VPS13B):c.9394A>T (p.Lys3132Ter)
NM_152564.5(VPS13B):c.9394_9398del (p.Lys3132fs) rs2130858031
NM_152564.5(VPS13B):c.9472C>T (p.Gln3158Ter) rs753770252
NM_152564.5(VPS13B):c.9544A>T (p.Arg3182Ter)
NM_152564.5(VPS13B):c.9562_9565del (p.Gln3188fs) rs1554574028
NM_152564.5(VPS13B):c.9614+1G>T rs1057517168
NM_152564.5(VPS13B):c.9615-2A>C rs386834120
NM_152564.5(VPS13B):c.9615-2A>G rs386834120
NM_152564.5(VPS13B):c.9631del (p.Tyr3211fs) rs386834121
NM_152564.5(VPS13B):c.9634C>T (p.Gln3212Ter) rs1563499381
NM_152564.5(VPS13B):c.9656del (p.Tyr3219fs) rs386834122
NM_152564.5(VPS13B):c.9685C>T (p.Arg3229Ter) rs941969577
NM_152564.5(VPS13B):c.9701del (p.Asn3234fs) rs2130865566
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs) rs886041185
NM_152564.5(VPS13B):c.9739A>T (p.Lys3247Ter)
NM_152564.5(VPS13B):c.9742+1G>A
NM_152564.5(VPS13B):c.9742+1G>T rs759374475
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.9756del (p.Phe3252fs) rs768801125
NM_152564.5(VPS13B):c.9775del (p.Ile3259fs) rs774357106
NM_152564.5(VPS13B):c.9791C>A (p.Ser3264Ter)
NM_152564.5(VPS13B):c.9830del (p.Pro3277fs) rs1057516568
NM_152564.5(VPS13B):c.9880_9881del (p.Pro3294fs) rs1057516614
NM_152564.5(VPS13B):c.9916del (p.Ile3306fs) rs1554575679
NM_152564.5(VPS13B):c.9934_9942+5del rs1554575693
NM_152564.5(VPS13B):c.9940_9941insTTT (p.Gln3314delinsLeuTer) rs1301330402
NM_152564.5(VPS13B):c.9942+1G>A rs1057517063
NM_152564.5(VPS13B):c.9942+1G>T rs1057517063
NM_152564.5(VPS13B):c.998T>A (p.Leu333Ter)
NM_183235.3(RAB27A):c.121A>C (p.Thr41Pro) rs1896186645
NM_183235.3(RAB27A):c.121A>G (p.Thr41Ala) rs1896186645
NM_183235.3(RAB27A):c.154del
NM_183235.3(RAB27A):c.220G>C (p.Asp74His)
NM_183235.3(RAB27A):c.229G>A (p.Gly77Arg)
NM_183235.3(RAB27A):c.239+3A>G rs1595695268
NM_183235.3(RAB27A):c.240-47_240delinsTATTTCATACGAAATTTATA
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro) rs104894497
NM_183235.3(RAB27A):c.259G>T (p.Ala87Ser)
NM_183235.3(RAB27A):c.260C>T (p.Ala87Val) rs201697259
NM_183235.3(RAB27A):c.427G>A (p.Val143Met)
NM_183235.3(RAB27A):c.428T>C (p.Val143Ala)
NM_183235.3(RAB27A):c.475T>C (p.Tyr159His) rs1894614852
NM_183235.3(RAB27A):c.476A>G (p.Tyr159Cys)
NM_183235.3(RAB27A):c.509_510del (p.Ile170fs)
NM_183235.3(RAB27A):c.514C>T (p.Gln172Ter)
NM_183235.3(RAB27A):c.514_518del (p.Gln172fs) rs767481076

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