Genename Variants
ARAP1(NM_001040118,ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1,1450aa) g.11:72408055G>C,c.3139C>G,p.Q1047E
ARAP1(NM_001040118,ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1,1450aa) g.11:72407648C>T,c.3218G>A,p.R1073Q
ARAP1(NM_001040118,ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1,1450aa) g.11:72397200C>T,c.4222G>A,p.V1408M
ARAP1(NM_001040118,ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1,1450aa) g.11:72397152G>C,c.4270C>G,p.P1424A
ARAP1(NM_001040118,ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1,1450aa) g.11:72397100G>A,c.4322C>T,p.A1441V
ARAF(NM_001256196,v-raf murine sarcoma 3611 viral oncogene homolog,609aa) g.X:47430769G>C,c.1743G>C,p.E581D
ARAF(NM_001256196,v-raf murine sarcoma 3611 viral oncogene homolog,609aa) g.X:47424741del,c.558del,p.186fs
ARAF(NM_001256196,v-raf murine sarcoma 3611 viral oncogene homolog,609aa) g.X:47424701C>T,c.518C>T,p.A173V
AQR(NM_014691,aquarius intron-binding spliceosomal factor,1485aa) g.15:35230936_35230937insGTTA,c.718+2insTAAC,p.240Donorins
AQR(NM_014691,aquarius intron-binding spliceosomal factor,1485aa) g.15:35224559T>C,c.860A>G,p.N287S
AQR(NM_014691,aquarius intron-binding spliceosomal factor,1485aa) g.15:35149130C>T,c.4321G>A,p.E1441K
AQR(NM_014691,aquarius intron-binding spliceosomal factor,1485aa) g.15:35149048G>A,c.4403C>T,p.P1468L
AQP9(NM_020980,aquaporin 9,295aa) g.15:58476281A>G,c.835A>G,p.T279A
AQP9(NM_020980,aquaporin 9,295aa) g.15:58476204T>C,c.758T>C,p.V253A
AQP9(NM_020980,aquaporin 9,295aa) g.15:58471418T>G,c.587T>G,p.I196S
AQP9(NM_020980,aquaporin 9,295aa) g.15:58471391C>T,c.560C>T,p.A187V
AQP9(NM_020980,aquaporin 9,295aa) g.15:58471357G>A,c.526G>A,p.V176I
AQP9(NM_020980,aquaporin 9,295aa) g.15:58471327G>A,c.496G>A,p.V166M
AQP9(NM_020980,aquaporin 9,295aa) g.15:58465386G>A,c.358G>A,p.V120I
AQP9(NM_020980,aquaporin 9,295aa) g.15:58430844T>G,c.80T>G,p.L27R
AQP8(NM_001169,aquaporin 8,261aa) g.16:25239809G>A,c.782G>A,p.R261Q
AQP8(NM_001169,aquaporin 8,261aa) g.16:25239805G>C,c.778G>C,p.A260P
AQP8(NM_001169,aquaporin 8,261aa) g.16:25238420G>A,c.634G>A,p.A212T
AQP8(NM_001169,aquaporin 8,261aa) g.16:25235743G>A,c.448G>A,p.E150K
AQP8(NM_001169,aquaporin 8,261aa) g.16:25228709C>T,c.203C>T,p.P68L
AQP8(NM_001169,aquaporin 8,261aa) g.16:25228612C>T,c.106C>T,p.Q36X
AQP8(NM_001169,aquaporin 8,261aa) g.16:25228586G>A,c.80G>A,p.R27Q
AQP7(NM_001170,aquaporin 7,342aa) g.9:33395186G>A,c.34C>T,p.R12C
This is an excerpt of data-sheet including the published polymorphism sites observed in our studies. For the complete variant lists and potential collaboration, please contact huh@cougarlab.org