NM_006118.4(HAX1):c.317-2A>G
|
rs371504152
|
0.00009
|
NM_138387.4(G6PC3):c.130C>T (p.Pro44Ser)
|
rs775224457
|
0.00004
|
NM_152564.5(VPS13B):c.7248-1G>A
|
rs763079458
|
0.00003
|
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr)
|
rs80356492
|
0.00002
|
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys)
|
rs753966933
|
0.00002
|
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys)
|
rs193302880
|
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_152564.5(VPS13B):c.10061+1G>A
|
rs1200459145
|
0.00001
|
NM_152564.5(VPS13B):c.10867+1G>A
|
rs780902262
|
0.00001
|
NM_152564.5(VPS13B):c.147+1G>A
|
rs1057517029
|
0.00001
|
NM_152564.5(VPS13B):c.2824+2T>C
|
rs141703746
|
0.00001
|
NM_152564.5(VPS13B):c.3082+2T>C
|
rs1188811827
|
0.00001
|
NM_152564.5(VPS13B):c.3083-2A>C
|
rs1456528242
|
0.00001
|
NM_152564.5(VPS13B):c.4746-1G>C
|
rs768342041
|
0.00001
|
NM_152564.5(VPS13B):c.4949+2T>C
|
rs761273297
|
0.00001
|
NM_152564.5(VPS13B):c.7051-1G>A
|
rs930144563
|
0.00001
|
NM_152564.5(VPS13B):c.8097+1G>A
|
rs1813590716
|
0.00001
|
NM_152564.5(VPS13B):c.8792+1G>T
|
rs1415714103
|
0.00001
|
NC_000001.10:g.(?_235543365)_(235922919_?)del
|
|
|
NC_000001.10:g.(?_235850229)_(235860592_?)del
|
|
|
NC_000001.10:g.(?_235950490)_(235964407_?)dup
|
|
|
NC_000001.11:g.(?_154274930)_(154275721_?)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.(?_100157931)_(100160219_?)del
|
|
|
NC_000008.10:g.(?_100205094)_(100205295_?)dup
|
|
|
NC_000008.10:g.(?_100205094)_(100287492_?)dup
|
|
|
NC_000008.10:g.(?_100396426)_(100479872_?)dup
|
|
|
NC_000008.10:g.(?_100443755)_(100443902_?)dup
|
|
|
NC_000008.10:g.(?_100568668)_(100673729_?)dup
|
|
|
NC_000008.10:g.(?_100654029)_(100654736_?)dup
|
|
|
NC_000008.10:g.(?_100711743)_(100712170_?)del
|
|
|
NC_000008.10:g.(?_100778144)_(100779154_?)del
|
|
|
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
|
|
|
NM_000081.4(LYST):c.3713-2A>C
|
|
|
NM_000081.4(LYST):c.4862+2T>A
|
|
|
NM_000081.4(LYST):c.4863-1G>C
|
|
|
NM_000081.4(LYST):c.5023+1G>A
|
|
|
NM_000081.4(LYST):c.5214+1G>C
|
|
|
NM_000081.4(LYST):c.5923-1G>A
|
|
|
NM_000081.4(LYST):c.5923-2A>G
|
|
|
NM_000081.4(LYST):c.6254-1G>C
|
|
|
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.8358+1G>C
|
|
|
NM_000081.4(LYST):c.8358+2T>C
|
|
|
NM_000081.4(LYST):c.8802-2A>G
|
|
|
NM_000081.4(LYST):c.9044+1G>A
|
|
|
NM_000081.4(LYST):c.9627+1G>A
|
|
|
NM_000081.4(LYST):c.9827_9832del (p.Asn3276_Thr3277del)
|
|
|
NM_000081.4(LYST):c.9925+1G>T
|
|
|
NM_000081.4(LYST):c.9925+2T>C
|
|
|
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+2_238+9del
|
rs1603376938
|
|
NM_000116.5(TAFAZZIN):c.528_541+7del
|
rs2068570435
|
|
NM_000116.5(TAFAZZIN):c.542-2A>G
|
rs2068574381
|
|
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.700-1del
|
|
|
NM_000116.5(TAFAZZIN):c.777+1G>A
|
rs2068606932
|
|
NM_000377.3(WAS):c.1339-2A>G
|
rs2147267240
|
|
NM_000377.3(WAS):c.142A>C (p.Thr48Pro)
|
rs2062412197
|
|
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.70T>C (p.Ser24Pro)
|
rs2062410722
|
|
NM_000760.4(CSF3R):c.1577-1G>A
|
|
|
NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile)
|
rs796065343
|
|
NM_000760.4(CSF3R):c.65-1G>A
|
|
|
NM_000760.4(CSF3R):c.65-2A>C
|
|
|
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_001164277.2(SLC37A4):c.1124+3_1124+6del
|
rs782612223
|
|
NM_001164277.2(SLC37A4):c.163A>C (p.Ser55Arg)
|
rs193302884
|
|
NM_001164277.2(SLC37A4):c.202G>A (p.Gly68Arg)
|
rs193302885
|
|
NM_001164277.2(SLC37A4):c.248G>A (p.Gly83Glu)
|
rs2134640168
|
|
NM_001164277.2(SLC37A4):c.382-1G>T
|
|
|
NM_001164277.2(SLC37A4):c.382-2A>G
|
|
|
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del)
|
rs121908977
|
|
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.871+1G>A
|
|
|
NM_001164277.2(SLC37A4):c.872-1G>A
|
|
|
NM_001164277.2(SLC37A4):c.872-8_881del
|
|
|
NM_001164277.2(SLC37A4):c.985+1G>A
|
rs1943553565
|
|
NM_001164277.2(SLC37A4):c.986-1G>A
|
|
|
NM_001972.4(ELANE):c.127T>C (p.Phe43Leu)
|
|
|
NM_001972.4(ELANE):c.136T>C (p.Ser46Pro)
|
rs2035616857
|
|
NM_001972.4(ELANE):c.169G>A (p.Ala57Thr)
|
rs2145144144
|
|
NM_001972.4(ELANE):c.197T>G (p.Met66Arg)
|
|
|
NM_001972.4(ELANE):c.362T>G (p.Leu121Arg)
|
|
|
NM_001972.4(ELANE):c.367-1G>A
|
|
|
NM_001972.4(ELANE):c.570G>A (p.Val190=)
|
|
|
NM_001972.4(ELANE):c.581_597dup (p.Gly200fs)
|
|
|
NM_001972.4(ELANE):c.602del (p.Asp201fs)
|
rs2035673569
|
|
NM_001972.4(ELANE):c.607G>A (p.Gly203Ser)
|
|
|
NM_001972.4(ELANE):c.622T>G (p.Cys208Gly)
|
rs2145149526
|
|
NM_001972.4(ELANE):c.661G>T (p.Gly221Ter)
|
rs2035675760
|
|
NM_003467.3(CXCR4):c.1016_1017del (p.Ser339fs)
|
rs730880320
|
|
NM_003664.5(AP3B1):c.129-1G>A
|
|
|
NM_003664.5(AP3B1):c.1364-2A>G
|
rs2112357253
|
|
NM_003664.5(AP3B1):c.1651-1G>A
|
|
|
NM_003664.5(AP3B1):c.1837+2T>C
|
rs2112300864
|
|
NM_003664.5(AP3B1):c.786+1G>A
|
|
|
NM_006118.4(HAX1):c.504+1G>A
|
rs2149140065
|
|
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.557-1G>A
|
|
|
NM_006118.4(HAX1):c.557-1G>C
|
rs1684904805
|
|
NM_006118.4(HAX1):c.664-1G>T
|
rs2149140690
|
|
NM_017890.5(VPS13B):c.4158-2A>G
|
rs2133626470
|
|
NM_138387.4(G6PC3):c.325+2T>G
|
|
|
NM_138387.4(G6PC3):c.325G>A (p.Gly109Ser)
|
|
|
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_152564.5(VPS13B):c.10867+1G>T
|
rs780902262
|
|
NM_152564.5(VPS13B):c.10868-2A>G
|
|
|
NM_152564.5(VPS13B):c.11181_11215+10del
|
|
|
NM_152564.5(VPS13B):c.11392+1G>T
|
rs1554587021
|
|
NM_152564.5(VPS13B):c.11393-1G>C
|
|
|
NM_152564.5(VPS13B):c.11495+178_11507delinsCAG
|
|
|
NM_152564.5(VPS13B):c.11495+1G>A
|
|
|
NM_152564.5(VPS13B):c.1303-1G>C
|
rs1554634091
|
|
NM_152564.5(VPS13B):c.148-2A>G
|
rs768406797
|
|
NM_152564.5(VPS13B):c.1563+1G>T
|
rs1057516923
|
|
NM_152564.5(VPS13B):c.1563G>A (p.Lys521=)
|
rs180177355
|
|
NM_152564.5(VPS13B):c.1652-2A>T
|
rs2132580903
|
|
NM_152564.5(VPS13B):c.1843+1G>A
|
|
|
NM_152564.5(VPS13B):c.2013+2341_2166del
|
|
|
NM_152564.5(VPS13B):c.2209-2A>G
|
|
|
NM_152564.5(VPS13B):c.2333+1G>T
|
rs1812243683
|
|
NM_152564.5(VPS13B):c.2516-2A>G
|
rs1554706114
|
|
NM_152564.5(VPS13B):c.2824+2T>G
|
rs141703746
|
|
NM_152564.5(VPS13B):c.291+1G>A
|
rs1057516857
|
|
NM_152564.5(VPS13B):c.291+2T>A
|
|
|
NM_152564.5(VPS13B):c.292-2A>G
|
rs386834079
|
|
NM_152564.5(VPS13B):c.2934+1G>T
|
rs775729058
|
|
NM_152564.5(VPS13B):c.2934+2T>A
|
|
|
NM_152564.5(VPS13B):c.2935-1G>A
|
rs2133312466
|
|
NM_152564.5(VPS13B):c.3082+1G>A
|
|
|
NM_152564.5(VPS13B):c.3083-1G>A
|
rs1563726973
|
|
NM_152564.5(VPS13B):c.3445+2T>A
|
|
|
NM_152564.5(VPS13B):c.3446-1G>A
|
|
|
NM_152564.5(VPS13B):c.3446-382_3463del
|
rs1588410519
|
|
NM_152564.5(VPS13B):c.3667-1G>A
|
rs750609612
|
|
NM_152564.5(VPS13B):c.3870+1G>A
|
rs764225649
|
|
NM_152564.5(VPS13B):c.3870+1G>T
|
rs764225649
|
|
NM_152564.5(VPS13B):c.412+1G>C
|
rs1057517295
|
|
NM_152564.5(VPS13B):c.412+2T>C
|
|
|
NM_152564.5(VPS13B):c.4157+2T>G
|
|
|
NM_152564.5(VPS13B):c.4225-1G>A
|
rs2133637043
|
|
NM_152564.5(VPS13B):c.4633+1G>A
|
|
|
NM_152564.5(VPS13B):c.4634-2A>G
|
rs2133668102
|
|
NM_152564.5(VPS13B):c.4746-1G>T
|
rs768342041
|
|
NM_152564.5(VPS13B):c.4950-1G>C
|
rs1554852945
|
|
NM_152564.5(VPS13B):c.5076+1G>C
|
|
|
NM_152564.5(VPS13B):c.5076+1G>T
|
|
|
NM_152564.5(VPS13B):c.5077-62_5084delinsAAGTAAGG
|
|
|
NM_152564.5(VPS13B):c.580+1G>A
|
rs1846848656
|
|
NM_152564.5(VPS13B):c.580+2T>C
|
|
|
NM_152564.5(VPS13B):c.581-1G>A
|
|
|
NM_152564.5(VPS13B):c.5908+2dup
|
rs587777381
|
|
NM_152564.5(VPS13B):c.6046+1G>T
|
rs750003804
|
|
NM_152564.5(VPS13B):c.7050+1G>T
|
rs1057516840
|
|
NM_152564.5(VPS13B):c.7247+2043_7403del
|
|
|
NM_152564.5(VPS13B):c.7248-1G>C
|
rs763079458
|
|
NM_152564.5(VPS13B):c.762+1G>A
|
|
|
NM_152564.5(VPS13B):c.762+2T>C
|
rs1588048848
|
|
NM_152564.5(VPS13B):c.763-1G>T
|
|
|
NM_152564.5(VPS13B):c.7779+1G>C
|
|
|
NM_152564.5(VPS13B):c.7779+1G>T
|
|
|
NM_152564.5(VPS13B):c.8098-1G>C
|
rs1554565484
|
|
NM_152564.5(VPS13B):c.8361+1G>A
|
rs542757501
|
|
NM_152564.5(VPS13B):c.8362-1G>C
|
|
|
NM_152564.5(VPS13B):c.8445+1G>C
|
|
|
NM_152564.5(VPS13B):c.8622-9A>G
|
rs386834116
|
|
NM_152564.5(VPS13B):c.8793-2A>G
|
|
|
NM_152564.5(VPS13B):c.8995-1G>A
|
|
|
NM_152564.5(VPS13B):c.8995-2A>G
|
rs1554569259
|
|
NM_152564.5(VPS13B):c.9183+1G>A
|
rs2130822351
|
|
NM_152564.5(VPS13B):c.9183+2T>G
|
|
|
NM_152564.5(VPS13B):c.9184-1G>A
|
|
|
NM_152564.5(VPS13B):c.9184-2A>G
|
|
|
NM_152564.5(VPS13B):c.9184-2_9184del
|
rs1057516807
|
|
NM_152564.5(VPS13B):c.9330+1G>C
|
rs756013171
|
|
NM_152564.5(VPS13B):c.937+1G>A
|
|
|
NM_152564.5(VPS13B):c.938-1G>C
|
rs2132515671
|
|
NM_152564.5(VPS13B):c.9742+1G>A
|
|
|
NM_152564.5(VPS13B):c.9742+2T>C
|
rs1434569440
|
|
NM_152564.5(VPS13B):c.9743-2A>C
|
rs1815345770
|
|
NM_152564.5(VPS13B):c.9743-5_9744del
|
|
|
NM_152564.5(VPS13B):c.9934_9942+5del
|
rs1554575693
|
|
NM_152564.5(VPS13B):c.9942+1G>A
|
rs1057517063
|
|
NM_152564.5(VPS13B):c.9942+1G>T
|
rs1057517063
|
|
NM_183235.3(RAB27A):c.121A>C (p.Thr41Pro)
|
rs1896186645
|
|
NM_183235.3(RAB27A):c.121A>G (p.Thr41Ala)
|
rs1896186645
|
|
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.259G>T (p.Ala87Ser)
|
|
|
NM_183235.3(RAB27A):c.260C>T (p.Ala87Val)
|
rs201697259
|
|
NM_183235.3(RAB27A):c.428T>C (p.Val143Ala)
|
|
|
NM_183235.3(RAB27A):c.467+1G>T
|
|
|
NM_183235.3(RAB27A):c.476A>G (p.Tyr159Cys)
|
|
|