UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.130880760_130880761insTCCTGCAC | CA2616844396 | SNX19 | c.2625_2626insGAGTGCAG (p.Tyr876GlufsTer25) c.129_130insGAGTGCAG (p.Tyr44GlufsTer25) n.178-1044_178-1043insGAGTGCAG n.387_388insGAGTGCAG c.765_766insGAGTGCAG (p.Tyr256GlufsTer25) n.361_362insGAGTGCAG n.985_986insGAGTGCAG c.345_346insGAGTGCAG (p.Tyr116GlufsTer25) c.2574-1044_2574-1043insGAGTGCAG (n.2574-1044_2574-1043insGAGTGCAG) c.2871_2872insGAGTGCAG (p.Tyr958GlufsTer25) c.2859_2860insGAGTGCAG (p.Tyr954GlufsTer25) c.2751_2752insGAGTGCAG (p.Tyr918GlufsTer25) c.1989_1990insGAGTGCAG (p.Tyr664GlufsTer25) c.1146_1147insGAGTGCAG (p.Tyr383GlufsTer25) c.1011_1012insGAGTGCAG (p.Tyr338GlufsTer25) c.891_892insGAGTGCAG (p.Tyr298GlufsTer25) c.2505_2506insGAGTGCAG (p.Tyr836GlufsTer25) c.954_955insGAGTGCAG (p.Tyr319GlufsTer25) c.900_901insGAGTGCAG (p.Tyr301GlufsTer25) c.645_646insGAGTGCAG (p.Tyr216GlufsTer25) c.591_592insGAGTGCAG (p.Tyr198GlufsTer25) c.714-1044_714-1043insGAGTGCAG (n.714-1044_714-1043insGAGTGCAG) n.3258_3259insGAGTGCAG n.3696_3697insGAGTGCAG n.3042_3043insGAGTGCAG n.3356_3357insGAGTGCAG c.*21021_*21022insGAGTGCAG (n.*21021_*21022insGAGTGCAG) n.3250_3251insGAGTGCAG | gnomAD v4 |
| 11 | g.130880756T>A | CA383457855 | SNX19 | c.2624A>T (p.Gln875Leu) c.128A>T (p.Gln43Leu) n.178-1045A>T n.386A>T c.764A>T (p.Gln255Leu) n.360A>T n.984A>T c.344A>T (p.Gln115Leu) c.2574-1045A>T (n.2574-1045A>T) c.2870A>T (p.Gln957Leu) c.2858A>T (p.Gln953Leu) c.2750A>T (p.Gln917Leu) c.1988A>T (p.Gln663Leu) c.1145A>T (p.Gln382Leu) c.1010A>T (p.Gln337Leu) c.890A>T (p.Gln297Leu) c.2504A>T (p.Gln835Leu) c.953A>T (p.Gln318Leu) c.899A>T (p.Gln300Leu) c.644A>T (p.Gln215Leu) c.590A>T (p.Gln197Leu) c.714-1045A>T (n.714-1045A>T) n.3257A>T n.3695A>T n.3041A>T n.3355A>T c.*21020A>T (n.*21020A>T) n.3249A>T | |
| 11 | g.130880756T>C | CA230763279 | SNX19 | c.2624A>G (p.Gln875Arg) c.128A>G (p.Gln43Arg) n.178-1045A>G n.386A>G c.764A>G (p.Gln255Arg) n.360A>G n.984A>G c.344A>G (p.Gln115Arg) c.2574-1045A>G (n.2574-1045A>G) c.2870A>G (p.Gln957Arg) c.2858A>G (p.Gln953Arg) c.2750A>G (p.Gln917Arg) c.1988A>G (p.Gln663Arg) c.1145A>G (p.Gln382Arg) c.1010A>G (p.Gln337Arg) c.890A>G (p.Gln297Arg) c.2504A>G (p.Gln835Arg) c.953A>G (p.Gln318Arg) c.899A>G (p.Gln300Arg) c.644A>G (p.Gln215Arg) c.590A>G (p.Gln197Arg) c.714-1045A>G (n.714-1045A>G) n.3257A>G n.3695A>G n.3041A>G n.3355A>G c.*21020A>G (n.*21020A>G) n.3249A>G | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.130880756T>G | CA383457856 | SNX19 | c.2624A>C (p.Gln875Pro) c.128A>C (p.Gln43Pro) n.178-1045A>C n.386A>C c.764A>C (p.Gln255Pro) n.360A>C n.984A>C c.344A>C (p.Gln115Pro) c.2574-1045A>C (n.2574-1045A>C) c.2870A>C (p.Gln957Pro) c.2858A>C (p.Gln953Pro) c.2750A>C (p.Gln917Pro) c.1988A>C (p.Gln663Pro) c.1145A>C (p.Gln382Pro) c.1010A>C (p.Gln337Pro) c.890A>C (p.Gln297Pro) c.2504A>C (p.Gln835Pro) c.953A>C (p.Gln318Pro) c.899A>C (p.Gln300Pro) c.644A>C (p.Gln215Pro) c.590A>C (p.Gln197Pro) c.714-1045A>C (n.714-1045A>C) n.3257A>C n.3695A>C n.3041A>C n.3355A>C c.*21020A>C (n.*21020A>C) n.3249A>C | |
| 11 | g.130880756T= | CA2009229892 | SNX19 | c.2624A= (p.Gln875=) c.128A= (p.Gln43=) n.178-1045A= n.386A= c.764A= (p.Gln255=) n.360A= n.984A= c.344A= (p.Gln115=) c.2574-1045A= (n.2574-1045A=) c.2870A= (p.Gln957=) c.2858A= (p.Gln953=) c.2750A= (p.Gln917=) c.1988A= (p.Gln663=) c.1145A= (p.Gln382=) c.1010A= (p.Gln337=) c.890A= (p.Gln297=) c.2504A= (p.Gln835=) c.953A= (p.Gln318=) c.899A= (p.Gln300=) c.644A= (p.Gln215=) c.590A= (p.Gln197=) c.714-1045A= (n.714-1045A=) n.3257A= n.3695A= n.3041A= n.3355A= c.*21020A= (n.*21020A=) n.3249A= | |
| 11 | g.130880757G>A | CA383457857 | SNX19 | c.2623C>T (p.Gln875Ter) c.127C>T (p.Gln43Ter) n.178-1046C>T n.385C>T c.763C>T (p.Gln255Ter) n.359C>T n.983C>T c.343C>T (p.Gln115Ter) c.2574-1046C>T (n.2574-1046C>T) c.2869C>T (p.Gln957Ter) c.2857C>T (p.Gln953Ter) c.2749C>T (p.Gln917Ter) c.1987C>T (p.Gln663Ter) c.1144C>T (p.Gln382Ter) c.1009C>T (p.Gln337Ter) c.889C>T (p.Gln297Ter) c.2503C>T (p.Gln835Ter) c.952C>T (p.Gln318Ter) c.898C>T (p.Gln300Ter) c.643C>T (p.Gln215Ter) c.589C>T (p.Gln197Ter) c.714-1046C>T (n.714-1046C>T) n.3256C>T n.3694C>T n.3040C>T n.3354C>T c.*21019C>T (n.*21019C>T) n.3248C>T | gnomAD v4 |
| 11 | g.130880757G>C | CA383457858 | SNX19 | c.2623C>G (p.Gln875Glu) c.127C>G (p.Gln43Glu) n.178-1046C>G n.385C>G c.763C>G (p.Gln255Glu) n.359C>G n.983C>G c.343C>G (p.Gln115Glu) c.2574-1046C>G (n.2574-1046C>G) c.2869C>G (p.Gln957Glu) c.2857C>G (p.Gln953Glu) c.2749C>G (p.Gln917Glu) c.1987C>G (p.Gln663Glu) c.1144C>G (p.Gln382Glu) c.1009C>G (p.Gln337Glu) c.889C>G (p.Gln297Glu) c.2503C>G (p.Gln835Glu) c.952C>G (p.Gln318Glu) c.898C>G (p.Gln300Glu) c.643C>G (p.Gln215Glu) c.589C>G (p.Gln197Glu) c.714-1046C>G (n.714-1046C>G) n.3256C>G n.3694C>G n.3040C>G n.3354C>G c.*21019C>G (n.*21019C>G) n.3248C>G | |
| 11 | g.130880757G>T | CA383457859 | SNX19 | c.2623C>A (p.Gln875Lys) c.127C>A (p.Gln43Lys) n.178-1046C>A n.385C>A c.763C>A (p.Gln255Lys) n.359C>A n.983C>A c.343C>A (p.Gln115Lys) c.2574-1046C>A (n.2574-1046C>A) c.2869C>A (p.Gln957Lys) c.2857C>A (p.Gln953Lys) c.2749C>A (p.Gln917Lys) c.1987C>A (p.Gln663Lys) c.1144C>A (p.Gln382Lys) c.1009C>A (p.Gln337Lys) c.889C>A (p.Gln297Lys) c.2503C>A (p.Gln835Lys) c.952C>A (p.Gln318Lys) c.898C>A (p.Gln300Lys) c.643C>A (p.Gln215Lys) c.589C>A (p.Gln197Lys) c.714-1046C>A (n.714-1046C>A) n.3256C>A n.3694C>A n.3040C>A n.3354C>A c.*21019C>A (n.*21019C>A) n.3248C>A | |
| 11 | g.130880758C>A | CA477582332 | SNX19 | c.2622G>T (p.Val874=) c.126G>T (p.Val42=) n.178-1047G>T n.384G>T c.762G>T (p.Val254=) n.358G>T n.982G>T c.342G>T (p.Val114=) c.2574-1047G>T (n.2574-1047G>T) c.2868G>T (p.Val956=) c.2856G>T (p.Val952=) c.2748G>T (p.Val916=) c.1986G>T (p.Val662=) c.1143G>T (p.Val381=) c.1008G>T (p.Val336=) c.888G>T (p.Val296=) c.2502G>T (p.Val834=) c.951G>T (p.Val317=) c.897G>T (p.Val299=) c.642G>T (p.Val214=) c.588G>T (p.Val196=) c.714-1047G>T (n.714-1047G>T) n.3255G>T n.3693G>T n.3039G>T n.3353G>T c.*21018G>T (n.*21018G>T) n.3247G>T | gnomAD v4 |
| 11 | g.130880758C>G | CA477582333 | SNX19 | c.2622G>C (p.Val874=) c.126G>C (p.Val42=) n.178-1047G>C n.384G>C c.762G>C (p.Val254=) n.358G>C n.982G>C c.342G>C (p.Val114=) c.2574-1047G>C (n.2574-1047G>C) c.2868G>C (p.Val956=) c.2856G>C (p.Val952=) c.2748G>C (p.Val916=) c.1986G>C (p.Val662=) c.1143G>C (p.Val381=) c.1008G>C (p.Val336=) c.888G>C (p.Val296=) c.2502G>C (p.Val834=) c.951G>C (p.Val317=) c.897G>C (p.Val299=) c.642G>C (p.Val214=) c.588G>C (p.Val196=) c.714-1047G>C (n.714-1047G>C) n.3255G>C n.3693G>C n.3039G>C n.3353G>C c.*21018G>C (n.*21018G>C) n.3247G>C | |
| 11 | g.130880758C>T | CA477582334 | SNX19 | c.2622G>A (p.Val874=) c.126G>A (p.Val42=) n.178-1047G>A n.384G>A c.762G>A (p.Val254=) n.358G>A n.982G>A c.342G>A (p.Val114=) c.2574-1047G>A (n.2574-1047G>A) c.2868G>A (p.Val956=) c.2856G>A (p.Val952=) c.2748G>A (p.Val916=) c.1986G>A (p.Val662=) c.1143G>A (p.Val381=) c.1008G>A (p.Val336=) c.888G>A (p.Val296=) c.2502G>A (p.Val834=) c.951G>A (p.Val317=) c.897G>A (p.Val299=) c.642G>A (p.Val214=) c.588G>A (p.Val196=) c.714-1047G>A (n.714-1047G>A) n.3255G>A n.3693G>A n.3039G>A n.3353G>A c.*21018G>A (n.*21018G>A) n.3247G>A | gnomAD v4 |
| 11 | g.130880759A= | CA2009229901 | SNX19 | c.2621T= (p.Val874=) c.125T= (p.Val42=) n.178-1048T= n.383T= c.761T= (p.Val254=) n.357T= n.981T= c.341T= (p.Val114=) c.2574-1048T= (n.2574-1048T=) c.2867T= (p.Val956=) c.2855T= (p.Val952=) c.2747T= (p.Val916=) c.1985T= (p.Val662=) c.1142T= (p.Val381=) c.1007T= (p.Val336=) c.887T= (p.Val296=) c.2501T= (p.Val834=) c.950T= (p.Val317=) c.896T= (p.Val299=) c.641T= (p.Val214=) c.587T= (p.Val196=) c.714-1048T= (n.714-1048T=) n.3254T= n.3692T= n.3038T= n.3352T= c.*21017T= (n.*21017T=) n.3246T= | |
| 11 | g.130880759A>C | CA6366592 | SNX19 | c.2621T>G (p.Val874Gly) c.125T>G (p.Val42Gly) n.178-1048T>G n.383T>G c.761T>G (p.Val254Gly) n.357T>G n.981T>G c.341T>G (p.Val114Gly) c.2574-1048T>G (n.2574-1048T>G) c.2867T>G (p.Val956Gly) c.2855T>G (p.Val952Gly) c.2747T>G (p.Val916Gly) c.1985T>G (p.Val662Gly) c.1142T>G (p.Val381Gly) c.1007T>G (p.Val336Gly) c.887T>G (p.Val296Gly) c.2501T>G (p.Val834Gly) c.950T>G (p.Val317Gly) c.896T>G (p.Val299Gly) c.641T>G (p.Val214Gly) c.587T>G (p.Val196Gly) c.714-1048T>G (n.714-1048T>G) n.3254T>G n.3692T>G n.3038T>G n.3352T>G c.*21017T>G (n.*21017T>G) n.3246T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.130880759A>G | CA383457860 | SNX19 | c.2621T>C (p.Val874Ala) c.125T>C (p.Val42Ala) n.178-1048T>C n.383T>C c.761T>C (p.Val254Ala) n.357T>C n.981T>C c.341T>C (p.Val114Ala) c.2574-1048T>C (n.2574-1048T>C) c.2867T>C (p.Val956Ala) c.2855T>C (p.Val952Ala) c.2747T>C (p.Val916Ala) c.1985T>C (p.Val662Ala) c.1142T>C (p.Val381Ala) c.1007T>C (p.Val336Ala) c.887T>C (p.Val296Ala) c.2501T>C (p.Val834Ala) c.950T>C (p.Val317Ala) c.896T>C (p.Val299Ala) c.641T>C (p.Val214Ala) c.587T>C (p.Val196Ala) c.714-1048T>C (n.714-1048T>C) n.3254T>C n.3692T>C n.3038T>C n.3352T>C c.*21017T>C (n.*21017T>C) n.3246T>C | gnomAD v4 |
| 11 | g.130880759A>T | CA383457861 | SNX19 | c.2621T>A (p.Val874Glu) c.125T>A (p.Val42Glu) n.178-1048T>A n.383T>A c.761T>A (p.Val254Glu) n.357T>A n.981T>A c.341T>A (p.Val114Glu) c.2574-1048T>A (n.2574-1048T>A) c.2867T>A (p.Val956Glu) c.2855T>A (p.Val952Glu) c.2747T>A (p.Val916Glu) c.1985T>A (p.Val662Glu) c.1142T>A (p.Val381Glu) c.1007T>A (p.Val336Glu) c.887T>A (p.Val296Glu) c.2501T>A (p.Val834Glu) c.950T>A (p.Val317Glu) c.896T>A (p.Val299Glu) c.641T>A (p.Val214Glu) c.587T>A (p.Val196Glu) c.714-1048T>A (n.714-1048T>A) n.3254T>A n.3692T>A n.3038T>A n.3352T>A c.*21017T>A (n.*21017T>A) n.3246T>A | |
| 11 | g.130880760C>A | CA383457862 | SNX19 | c.2620G>T (p.Val874Leu) c.124G>T (p.Val42Leu) n.178-1049G>T n.382G>T c.760G>T (p.Val254Leu) n.356G>T n.980G>T c.340G>T (p.Val114Leu) c.2574-1049G>T (n.2574-1049G>T) c.2866G>T (p.Val956Leu) c.2854G>T (p.Val952Leu) c.2746G>T (p.Val916Leu) c.1984G>T (p.Val662Leu) c.1141G>T (p.Val381Leu) c.1006G>T (p.Val336Leu) c.886G>T (p.Val296Leu) c.2500G>T (p.Val834Leu) c.949G>T (p.Val317Leu) c.895G>T (p.Val299Leu) c.640G>T (p.Val214Leu) c.586G>T (p.Val196Leu) c.714-1049G>T (n.714-1049G>T) n.3253G>T n.3691G>T n.3037G>T n.3351G>T c.*21016G>T (n.*21016G>T) n.3245G>T | dbSNP gnomAD v4 |
| 11 | g.130880760C= | CA2009229910 | SNX19 | c.2620G= (p.Val874=) c.124G= (p.Val42=) n.178-1049G= n.382G= c.760G= (p.Val254=) n.356G= n.980G= c.340G= (p.Val114=) c.2574-1049G= (n.2574-1049G=) c.2866G= (p.Val956=) c.2854G= (p.Val952=) c.2746G= (p.Val916=) c.1984G= (p.Val662=) c.1141G= (p.Val381=) c.1006G= (p.Val336=) c.886G= (p.Val296=) c.2500G= (p.Val834=) c.949G= (p.Val317=) c.895G= (p.Val299=) c.640G= (p.Val214=) c.586G= (p.Val196=) c.714-1049G= (n.714-1049G=) n.3253G= n.3691G= n.3037G= n.3351G= c.*21016G= (n.*21016G=) n.3245G= | |
| 11 | g.130880760C>G | CA383457863 | SNX19 | c.2620G>C (p.Val874Leu) c.124G>C (p.Val42Leu) n.178-1049G>C n.382G>C c.760G>C (p.Val254Leu) n.356G>C n.980G>C c.340G>C (p.Val114Leu) c.2574-1049G>C (n.2574-1049G>C) c.2866G>C (p.Val956Leu) c.2854G>C (p.Val952Leu) c.2746G>C (p.Val916Leu) c.1984G>C (p.Val662Leu) c.1141G>C (p.Val381Leu) c.1006G>C (p.Val336Leu) c.886G>C (p.Val296Leu) c.2500G>C (p.Val834Leu) c.949G>C (p.Val317Leu) c.895G>C (p.Val299Leu) c.640G>C (p.Val214Leu) c.586G>C (p.Val196Leu) c.714-1049G>C (n.714-1049G>C) n.3253G>C n.3691G>C n.3037G>C n.3351G>C c.*21016G>C (n.*21016G>C) n.3245G>C | gnomAD v4 |
| 11 | g.130880760C>T | CA383457864 | SNX19 | c.2620G>A (p.Val874Met) c.124G>A (p.Val42Met) n.178-1049G>A n.382G>A c.760G>A (p.Val254Met) n.356G>A n.980G>A c.340G>A (p.Val114Met) c.2574-1049G>A (n.2574-1049G>A) c.2866G>A (p.Val956Met) c.2854G>A (p.Val952Met) c.2746G>A (p.Val916Met) c.1984G>A (p.Val662Met) c.1141G>A (p.Val381Met) c.1006G>A (p.Val336Met) c.886G>A (p.Val296Met) c.2500G>A (p.Val834Met) c.949G>A (p.Val317Met) c.895G>A (p.Val299Met) c.640G>A (p.Val214Met) c.586G>A (p.Val196Met) c.714-1049G>A (n.714-1049G>A) n.3253G>A n.3691G>A n.3037G>A n.3351G>A c.*21016G>A (n.*21016G>A) n.3245G>A | |
| 11 | g.130880761C>A | CA383457865 | SNX19 | c.2619G>T (p.Trp873Cys) c.123G>T (p.Trp41Cys) n.178-1050G>T n.381G>T c.759G>T (p.Trp253Cys) n.355G>T n.979G>T c.339G>T (p.Trp113Cys) c.2574-1050G>T (n.2574-1050G>T) c.2865G>T (p.Trp955Cys) c.2853G>T (p.Trp951Cys) c.2745G>T (p.Trp915Cys) c.1983G>T (p.Trp661Cys) c.1140G>T (p.Trp380Cys) c.1005G>T (p.Trp335Cys) c.885G>T (p.Trp295Cys) c.2499G>T (p.Trp833Cys) c.948G>T (p.Trp316Cys) c.894G>T (p.Trp298Cys) c.639G>T (p.Trp213Cys) c.585G>T (p.Trp195Cys) c.714-1050G>T (n.714-1050G>T) n.3252G>T n.3690G>T n.3036G>T n.3350G>T c.*21015G>T (n.*21015G>T) n.3244G>T | gnomAD v4 |
| 11 | g.130880761C= | CA2009229913 | SNX19 | c.2619G= (p.Trp873=) c.123G= (p.Trp41=) n.178-1050G= n.381G= c.759G= (p.Trp253=) n.355G= n.979G= c.339G= (p.Trp113=) c.2574-1050G= (n.2574-1050G=) c.2865G= (p.Trp955=) c.2853G= (p.Trp951=) c.2745G= (p.Trp915=) c.1983G= (p.Trp661=) c.1140G= (p.Trp380=) c.1005G= (p.Trp335=) c.885G= (p.Trp295=) c.2499G= (p.Trp833=) c.948G= (p.Trp316=) c.894G= (p.Trp298=) c.639G= (p.Trp213=) c.585G= (p.Trp195=) c.714-1050G= (n.714-1050G=) n.3252G= n.3690G= n.3036G= n.3350G= c.*21015G= (n.*21015G=) n.3244G= | |
| 11 | g.130880761C>G | CA383457866 | SNX19 | c.2619G>C (p.Trp873Cys) c.123G>C (p.Trp41Cys) n.178-1050G>C n.381G>C c.759G>C (p.Trp253Cys) n.355G>C n.979G>C c.339G>C (p.Trp113Cys) c.2574-1050G>C (n.2574-1050G>C) c.2865G>C (p.Trp955Cys) c.2853G>C (p.Trp951Cys) c.2745G>C (p.Trp915Cys) c.1983G>C (p.Trp661Cys) c.1140G>C (p.Trp380Cys) c.1005G>C (p.Trp335Cys) c.885G>C (p.Trp295Cys) c.2499G>C (p.Trp833Cys) c.948G>C (p.Trp316Cys) c.894G>C (p.Trp298Cys) c.639G>C (p.Trp213Cys) c.585G>C (p.Trp195Cys) c.714-1050G>C (n.714-1050G>C) n.3252G>C n.3690G>C n.3036G>C n.3350G>C c.*21015G>C (n.*21015G>C) n.3244G>C | |
| 11 | g.130880761C>T | CA6366593 | SNX19 | c.2619G>A (p.Trp873Ter) c.123G>A (p.Trp41Ter) n.178-1050G>A n.381G>A c.759G>A (p.Trp253Ter) n.355G>A n.979G>A c.339G>A (p.Trp113Ter) c.2574-1050G>A (n.2574-1050G>A) c.2865G>A (p.Trp955Ter) c.2853G>A (p.Trp951Ter) c.2745G>A (p.Trp915Ter) c.1983G>A (p.Trp661Ter) c.1140G>A (p.Trp380Ter) c.1005G>A (p.Trp335Ter) c.885G>A (p.Trp295Ter) c.2499G>A (p.Trp833Ter) c.948G>A (p.Trp316Ter) c.894G>A (p.Trp298Ter) c.639G>A (p.Trp213Ter) c.585G>A (p.Trp195Ter) c.714-1050G>A (n.714-1050G>A) n.3252G>A n.3690G>A n.3036G>A n.3350G>A c.*21015G>A (n.*21015G>A) n.3244G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.130880762C>A | CA383457867 | SNX19 | c.2618G>T (p.Trp873Leu) c.122G>T (p.Trp41Leu) n.178-1051G>T n.380G>T c.758G>T (p.Trp253Leu) n.354G>T n.978G>T c.338G>T (p.Trp113Leu) c.2574-1051G>T (n.2574-1051G>T) c.2864G>T (p.Trp955Leu) c.2852G>T (p.Trp951Leu) c.2744G>T (p.Trp915Leu) c.1982G>T (p.Trp661Leu) c.1139G>T (p.Trp380Leu) c.1004G>T (p.Trp335Leu) c.884G>T (p.Trp295Leu) c.2498G>T (p.Trp833Leu) c.947G>T (p.Trp316Leu) c.893G>T (p.Trp298Leu) c.638G>T (p.Trp213Leu) c.584G>T (p.Trp195Leu) c.714-1051G>T (n.714-1051G>T) n.3251G>T n.3689G>T n.3035G>T n.3349G>T c.*21014G>T (n.*21014G>T) n.3243G>T | gnomAD v4 |
| 11 | g.130880762C>G | CA383457868 | SNX19 | c.2618G>C (p.Trp873Ser) c.122G>C (p.Trp41Ser) n.178-1051G>C n.380G>C c.758G>C (p.Trp253Ser) n.354G>C n.978G>C c.338G>C (p.Trp113Ser) c.2574-1051G>C (n.2574-1051G>C) c.2864G>C (p.Trp955Ser) c.2852G>C (p.Trp951Ser) c.2744G>C (p.Trp915Ser) c.1982G>C (p.Trp661Ser) c.1139G>C (p.Trp380Ser) c.1004G>C (p.Trp335Ser) c.884G>C (p.Trp295Ser) c.2498G>C (p.Trp833Ser) c.947G>C (p.Trp316Ser) c.893G>C (p.Trp298Ser) c.638G>C (p.Trp213Ser) c.584G>C (p.Trp195Ser) c.714-1051G>C (n.714-1051G>C) n.3251G>C n.3689G>C n.3035G>C n.3349G>C c.*21014G>C (n.*21014G>C) n.3243G>C | |
| 11 | g.130880762C>T | CA383457869 | SNX19 | c.2618G>A (p.Trp873Ter) c.122G>A (p.Trp41Ter) n.178-1051G>A n.380G>A c.758G>A (p.Trp253Ter) n.354G>A n.978G>A c.338G>A (p.Trp113Ter) c.2574-1051G>A (n.2574-1051G>A) c.2864G>A (p.Trp955Ter) c.2852G>A (p.Trp951Ter) c.2744G>A (p.Trp915Ter) c.1982G>A (p.Trp661Ter) c.1139G>A (p.Trp380Ter) c.1004G>A (p.Trp335Ter) c.884G>A (p.Trp295Ter) c.2498G>A (p.Trp833Ter) c.947G>A (p.Trp316Ter) c.893G>A (p.Trp298Ter) c.638G>A (p.Trp213Ter) c.584G>A (p.Trp195Ter) c.714-1051G>A (n.714-1051G>A) n.3251G>A n.3689G>A n.3035G>A n.3349G>A c.*21014G>A (n.*21014G>A) n.3243G>A | |
| 11 | g.130880763A>C | CA383457870 | SNX19 | c.2617T>G (p.Trp873Gly) c.121T>G (p.Trp41Gly) n.178-1052T>G n.379T>G c.757T>G (p.Trp253Gly) n.353T>G n.977T>G c.337T>G (p.Trp113Gly) c.2574-1052T>G (n.2574-1052T>G) c.2863T>G (p.Trp955Gly) c.2851T>G (p.Trp951Gly) c.2743T>G (p.Trp915Gly) c.1981T>G (p.Trp661Gly) c.1138T>G (p.Trp380Gly) c.1003T>G (p.Trp335Gly) c.883T>G (p.Trp295Gly) c.2497T>G (p.Trp833Gly) c.946T>G (p.Trp316Gly) c.892T>G (p.Trp298Gly) c.637T>G (p.Trp213Gly) c.583T>G (p.Trp195Gly) c.714-1052T>G (n.714-1052T>G) n.3250T>G n.3688T>G n.3034T>G n.3348T>G c.*21013T>G (n.*21013T>G) n.3242T>G | |
| 11 | g.130880763A>G | CA383457871 | SNX19 | c.2617T>C (p.Trp873Arg) c.121T>C (p.Trp41Arg) n.178-1052T>C n.379T>C c.757T>C (p.Trp253Arg) n.353T>C n.977T>C c.337T>C (p.Trp113Arg) c.2574-1052T>C (n.2574-1052T>C) c.2863T>C (p.Trp955Arg) c.2851T>C (p.Trp951Arg) c.2743T>C (p.Trp915Arg) c.1981T>C (p.Trp661Arg) c.1138T>C (p.Trp380Arg) c.1003T>C (p.Trp335Arg) c.883T>C (p.Trp295Arg) c.2497T>C (p.Trp833Arg) c.946T>C (p.Trp316Arg) c.892T>C (p.Trp298Arg) c.637T>C (p.Trp213Arg) c.583T>C (p.Trp195Arg) c.714-1052T>C (n.714-1052T>C) n.3250T>C n.3688T>C n.3034T>C n.3348T>C c.*21013T>C (n.*21013T>C) n.3242T>C | |
| 11 | g.130880763A>T | CA383457872 | SNX19 | c.2617T>A (p.Trp873Arg) c.121T>A (p.Trp41Arg) n.178-1052T>A n.379T>A c.757T>A (p.Trp253Arg) n.353T>A n.977T>A c.337T>A (p.Trp113Arg) c.2574-1052T>A (n.2574-1052T>A) c.2863T>A (p.Trp955Arg) c.2851T>A (p.Trp951Arg) c.2743T>A (p.Trp915Arg) c.1981T>A (p.Trp661Arg) c.1138T>A (p.Trp380Arg) c.1003T>A (p.Trp335Arg) c.883T>A (p.Trp295Arg) c.2497T>A (p.Trp833Arg) c.946T>A (p.Trp316Arg) c.892T>A (p.Trp298Arg) c.637T>A (p.Trp213Arg) c.583T>A (p.Trp195Arg) c.714-1052T>A (n.714-1052T>A) n.3250T>A n.3688T>A n.3034T>A n.3348T>A c.*21013T>A (n.*21013T>A) n.3242T>A | |
| 11 | g.130880764G>A | CA477582335 | SNX19 | c.2616C>T (p.Arg872=) c.120C>T (p.Arg40=) n.178-1053C>T n.378C>T c.756C>T (p.Arg252=) n.352C>T n.976C>T c.336C>T (p.Arg112=) c.2574-1053C>T (n.2574-1053C>T) c.2862C>T (p.Arg954=) c.2850C>T (p.Arg950=) c.2742C>T (p.Arg914=) c.1980C>T (p.Arg660=) c.1137C>T (p.Arg379=) c.1002C>T (p.Arg334=) c.882C>T (p.Arg294=) c.2496C>T (p.Arg832=) c.945C>T (p.Arg315=) c.891C>T (p.Arg297=) c.636C>T (p.Arg212=) c.582C>T (p.Arg194=) c.714-1053C>T (n.714-1053C>T) n.3249C>T n.3687C>T n.3033C>T n.3347C>T c.*21012C>T (n.*21012C>T) n.3241C>T | gnomAD v4 |
| 11 | g.130880764G>C | CA477582337 | SNX19 | c.2616C>G (p.Arg872=) c.120C>G (p.Arg40=) n.178-1053C>G n.378C>G c.756C>G (p.Arg252=) n.352C>G n.976C>G c.336C>G (p.Arg112=) c.2574-1053C>G (n.2574-1053C>G) c.2862C>G (p.Arg954=) c.2850C>G (p.Arg950=) c.2742C>G (p.Arg914=) c.1980C>G (p.Arg660=) c.1137C>G (p.Arg379=) c.1002C>G (p.Arg334=) c.882C>G (p.Arg294=) c.2496C>G (p.Arg832=) c.945C>G (p.Arg315=) c.891C>G (p.Arg297=) c.636C>G (p.Arg212=) c.582C>G (p.Arg194=) c.714-1053C>G (n.714-1053C>G) n.3249C>G n.3687C>G n.3033C>G n.3347C>G c.*21012C>G (n.*21012C>G) n.3241C>G | gnomAD v4 |
| 11 | g.130880764G>T | CA477582336 | SNX19 | c.2616C>A (p.Arg872=) c.120C>A (p.Arg40=) n.178-1053C>A n.378C>A c.756C>A (p.Arg252=) n.352C>A n.976C>A c.336C>A (p.Arg112=) c.2574-1053C>A (n.2574-1053C>A) c.2862C>A (p.Arg954=) c.2850C>A (p.Arg950=) c.2742C>A (p.Arg914=) c.1980C>A (p.Arg660=) c.1137C>A (p.Arg379=) c.1002C>A (p.Arg334=) c.882C>A (p.Arg294=) c.2496C>A (p.Arg832=) c.945C>A (p.Arg315=) c.891C>A (p.Arg297=) c.636C>A (p.Arg212=) c.582C>A (p.Arg194=) c.714-1053C>A (n.714-1053C>A) n.3249C>A n.3687C>A n.3033C>A n.3347C>A c.*21012C>A (n.*21012C>A) n.3241C>A | |
| 11 | g.130880765C>A | CA6366595 | SNX19 | c.2615G>T (p.Arg872Leu) c.119G>T (p.Arg40Leu) n.178-1054G>T n.377G>T c.755G>T (p.Arg252Leu) n.351G>T n.975G>T c.335G>T (p.Arg112Leu) c.2574-1054G>T (n.2574-1054G>T) c.2861G>T (p.Arg954Leu) c.2849G>T (p.Arg950Leu) c.2741G>T (p.Arg914Leu) c.1979G>T (p.Arg660Leu) c.1136G>T (p.Arg379Leu) c.1001G>T (p.Arg334Leu) c.881G>T (p.Arg294Leu) c.2495G>T (p.Arg832Leu) c.944G>T (p.Arg315Leu) c.890G>T (p.Arg297Leu) c.635G>T (p.Arg212Leu) c.581G>T (p.Arg194Leu) c.714-1054G>T (n.714-1054G>T) n.3248G>T n.3686G>T n.3032G>T n.3346G>T c.*21011G>T (n.*21011G>T) n.3240G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.130880765C= | CA2009229920 | SNX19 | c.2615G= (p.Arg872=) c.119G= (p.Arg40=) n.178-1054G= n.377G= c.755G= (p.Arg252=) n.351G= n.975G= c.335G= (p.Arg112=) c.2574-1054G= (n.2574-1054G=) c.2861G= (p.Arg954=) c.2849G= (p.Arg950=) c.2741G= (p.Arg914=) c.1979G= (p.Arg660=) c.1136G= (p.Arg379=) c.1001G= (p.Arg334=) c.881G= (p.Arg294=) c.2495G= (p.Arg832=) c.944G= (p.Arg315=) c.890G= (p.Arg297=) c.635G= (p.Arg212=) c.581G= (p.Arg194=) c.714-1054G= (n.714-1054G=) n.3248G= n.3686G= n.3032G= n.3346G= c.*21011G= (n.*21011G=) n.3240G= | |
| 11 | g.130880765C>G | CA383457873 | SNX19 | c.2615G>C (p.Arg872Pro) c.119G>C (p.Arg40Pro) n.178-1054G>C n.377G>C c.755G>C (p.Arg252Pro) n.351G>C n.975G>C c.335G>C (p.Arg112Pro) c.2574-1054G>C (n.2574-1054G>C) c.2861G>C (p.Arg954Pro) c.2849G>C (p.Arg950Pro) c.2741G>C (p.Arg914Pro) c.1979G>C (p.Arg660Pro) c.1136G>C (p.Arg379Pro) c.1001G>C (p.Arg334Pro) c.881G>C (p.Arg294Pro) c.2495G>C (p.Arg832Pro) c.944G>C (p.Arg315Pro) c.890G>C (p.Arg297Pro) c.635G>C (p.Arg212Pro) c.581G>C (p.Arg194Pro) c.714-1054G>C (n.714-1054G>C) n.3248G>C n.3686G>C n.3032G>C n.3346G>C c.*21011G>C (n.*21011G>C) n.3240G>C | |
| 11 | g.130880765C>T | CA6366594 | SNX19 | c.2615G>A (p.Arg872His) c.119G>A (p.Arg40His) n.178-1054G>A n.377G>A c.755G>A (p.Arg252His) n.351G>A n.975G>A c.335G>A (p.Arg112His) c.2574-1054G>A (n.2574-1054G>A) c.2861G>A (p.Arg954His) c.2849G>A (p.Arg950His) c.2741G>A (p.Arg914His) c.1979G>A (p.Arg660His) c.1136G>A (p.Arg379His) c.1001G>A (p.Arg334His) c.881G>A (p.Arg294His) c.2495G>A (p.Arg832His) c.944G>A (p.Arg315His) c.890G>A (p.Arg297His) c.635G>A (p.Arg212His) c.581G>A (p.Arg194His) c.714-1054G>A (n.714-1054G>A) n.3248G>A n.3686G>A n.3032G>A n.3346G>A c.*21011G>A (n.*21011G>A) n.3240G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.130880766G>A | CA6366596 | SNX19 | c.2614C>T (p.Arg872Cys) c.118C>T (p.Arg40Cys) n.178-1055C>T n.376C>T c.754C>T (p.Arg252Cys) n.350C>T n.974C>T c.334C>T (p.Arg112Cys) c.2574-1055C>T (n.2574-1055C>T) c.2860C>T (p.Arg954Cys) c.2848C>T (p.Arg950Cys) c.2740C>T (p.Arg914Cys) c.1978C>T (p.Arg660Cys) c.1135C>T (p.Arg379Cys) c.1000C>T (p.Arg334Cys) c.880C>T (p.Arg294Cys) c.2494C>T (p.Arg832Cys) c.943C>T (p.Arg315Cys) c.889C>T (p.Arg297Cys) c.634C>T (p.Arg212Cys) c.580C>T (p.Arg194Cys) c.714-1055C>T (n.714-1055C>T) n.3247C>T n.3685C>T n.3031C>T n.3345C>T c.*21010C>T (n.*21010C>T) n.3239C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.130880766G>C | CA383457874 | SNX19 | c.2614C>G (p.Arg872Gly) c.118C>G (p.Arg40Gly) n.178-1055C>G n.376C>G c.754C>G (p.Arg252Gly) n.350C>G n.974C>G c.334C>G (p.Arg112Gly) c.2574-1055C>G (n.2574-1055C>G) c.2860C>G (p.Arg954Gly) c.2848C>G (p.Arg950Gly) c.2740C>G (p.Arg914Gly) c.1978C>G (p.Arg660Gly) c.1135C>G (p.Arg379Gly) c.1000C>G (p.Arg334Gly) c.880C>G (p.Arg294Gly) c.2494C>G (p.Arg832Gly) c.943C>G (p.Arg315Gly) c.889C>G (p.Arg297Gly) c.634C>G (p.Arg212Gly) c.580C>G (p.Arg194Gly) c.714-1055C>G (n.714-1055C>G) n.3247C>G n.3685C>G n.3031C>G n.3345C>G c.*21010C>G (n.*21010C>G) n.3239C>G | |
| 11 | g.130880766G= | CA2009229928 | SNX19 | c.2614C= (p.Arg872=) c.118C= (p.Arg40=) n.178-1055C= n.376C= c.754C= (p.Arg252=) n.350C= n.974C= c.334C= (p.Arg112=) c.2574-1055C= (n.2574-1055C=) c.2860C= (p.Arg954=) c.2848C= (p.Arg950=) c.2740C= (p.Arg914=) c.1978C= (p.Arg660=) c.1135C= (p.Arg379=) c.1000C= (p.Arg334=) c.880C= (p.Arg294=) c.2494C= (p.Arg832=) c.943C= (p.Arg315=) c.889C= (p.Arg297=) c.634C= (p.Arg212=) c.580C= (p.Arg194=) c.714-1055C= (n.714-1055C=) n.3247C= n.3685C= n.3031C= n.3345C= c.*21010C= (n.*21010C=) n.3239C= | |
| 11 | g.130880766G>T | CA383457875 | SNX19 | c.2614C>A (p.Arg872Ser) c.118C>A (p.Arg40Ser) n.178-1055C>A n.376C>A c.754C>A (p.Arg252Ser) n.350C>A n.974C>A c.334C>A (p.Arg112Ser) c.2574-1055C>A (n.2574-1055C>A) c.2860C>A (p.Arg954Ser) c.2848C>A (p.Arg950Ser) c.2740C>A (p.Arg914Ser) c.1978C>A (p.Arg660Ser) c.1135C>A (p.Arg379Ser) c.1000C>A (p.Arg334Ser) c.880C>A (p.Arg294Ser) c.2494C>A (p.Arg832Ser) c.943C>A (p.Arg315Ser) c.889C>A (p.Arg297Ser) c.634C>A (p.Arg212Ser) c.580C>A (p.Arg194Ser) c.714-1055C>A (n.714-1055C>A) n.3247C>A n.3685C>A n.3031C>A n.3345C>A c.*21010C>A (n.*21010C>A) n.3239C>A | |
| 11 | g.130880767C>A | CA383457876 | SNX19 | c.2613G>T (p.Gln871His) c.117G>T (p.Gln39His) n.178-1056G>T n.375G>T c.753G>T (p.Gln251His) n.349G>T n.973G>T c.333G>T (p.Gln111His) c.2574-1056G>T (n.2574-1056G>T) c.2859G>T (p.Gln953His) c.2847G>T (p.Gln949His) c.2739G>T (p.Gln913His) c.1977G>T (p.Gln659His) c.1134G>T (p.Gln378His) c.999G>T (p.Gln333His) c.879G>T (p.Gln293His) c.2493G>T (p.Gln831His) c.942G>T (p.Gln314His) c.888G>T (p.Gln296His) c.633G>T (p.Gln211His) c.579G>T (p.Gln193His) c.714-1056G>T (n.714-1056G>T) n.3246G>T n.3684G>T n.3030G>T n.3344G>T c.*21009G>T (n.*21009G>T) n.3238G>T | |
| 11 | g.130880767C>G | CA383457877 | SNX19 | c.2613G>C (p.Gln871His) c.117G>C (p.Gln39His) n.178-1056G>C n.375G>C c.753G>C (p.Gln251His) n.349G>C n.973G>C c.333G>C (p.Gln111His) c.2574-1056G>C (n.2574-1056G>C) c.2859G>C (p.Gln953His) c.2847G>C (p.Gln949His) c.2739G>C (p.Gln913His) c.1977G>C (p.Gln659His) c.1134G>C (p.Gln378His) c.999G>C (p.Gln333His) c.879G>C (p.Gln293His) c.2493G>C (p.Gln831His) c.942G>C (p.Gln314His) c.888G>C (p.Gln296His) c.633G>C (p.Gln211His) c.579G>C (p.Gln193His) c.714-1056G>C (n.714-1056G>C) n.3246G>C n.3684G>C n.3030G>C n.3344G>C c.*21009G>C (n.*21009G>C) n.3238G>C | |
| 11 | g.130880767C>T | CA477582338 | SNX19 | c.2613G>A (p.Gln871=) c.117G>A (p.Gln39=) n.178-1056G>A n.375G>A c.753G>A (p.Gln251=) n.349G>A n.973G>A c.333G>A (p.Gln111=) c.2574-1056G>A (n.2574-1056G>A) c.2859G>A (p.Gln953=) c.2847G>A (p.Gln949=) c.2739G>A (p.Gln913=) c.1977G>A (p.Gln659=) c.1134G>A (p.Gln378=) c.999G>A (p.Gln333=) c.879G>A (p.Gln293=) c.2493G>A (p.Gln831=) c.942G>A (p.Gln314=) c.888G>A (p.Gln296=) c.633G>A (p.Gln211=) c.579G>A (p.Gln193=) c.714-1056G>A (n.714-1056G>A) n.3246G>A n.3684G>A n.3030G>A n.3344G>A c.*21009G>A (n.*21009G>A) n.3238G>A | |
| 11 | g.130880768T>A | CA383457878 | SNX19 | c.2612A>T (p.Gln871Leu) c.116A>T (p.Gln39Leu) n.178-1057A>T n.374A>T c.752A>T (p.Gln251Leu) n.348A>T n.972A>T c.332A>T (p.Gln111Leu) c.2574-1057A>T (n.2574-1057A>T) c.2858A>T (p.Gln953Leu) c.2846A>T (p.Gln949Leu) c.2738A>T (p.Gln913Leu) c.1976A>T (p.Gln659Leu) c.1133A>T (p.Gln378Leu) c.998A>T (p.Gln333Leu) c.878A>T (p.Gln293Leu) c.2492A>T (p.Gln831Leu) c.941A>T (p.Gln314Leu) c.887A>T (p.Gln296Leu) c.632A>T (p.Gln211Leu) c.578A>T (p.Gln193Leu) c.714-1057A>T (n.714-1057A>T) n.3245A>T n.3683A>T n.3029A>T n.3343A>T c.*21008A>T (n.*21008A>T) n.3237A>T | |
| 11 | g.130880768T>C | CA383457879 | SNX19 | c.2612A>G (p.Gln871Arg) c.116A>G (p.Gln39Arg) n.178-1057A>G n.374A>G c.752A>G (p.Gln251Arg) n.348A>G n.972A>G c.332A>G (p.Gln111Arg) c.2574-1057A>G (n.2574-1057A>G) c.2858A>G (p.Gln953Arg) c.2846A>G (p.Gln949Arg) c.2738A>G (p.Gln913Arg) c.1976A>G (p.Gln659Arg) c.1133A>G (p.Gln378Arg) c.998A>G (p.Gln333Arg) c.878A>G (p.Gln293Arg) c.2492A>G (p.Gln831Arg) c.941A>G (p.Gln314Arg) c.887A>G (p.Gln296Arg) c.632A>G (p.Gln211Arg) c.578A>G (p.Gln193Arg) c.714-1057A>G (n.714-1057A>G) n.3245A>G n.3683A>G n.3029A>G n.3343A>G c.*21008A>G (n.*21008A>G) n.3237A>G | gnomAD v4 |
| 11 | g.130880768T>G | CA383457880 | SNX19 | c.2612A>C (p.Gln871Pro) c.116A>C (p.Gln39Pro) n.178-1057A>C n.374A>C c.752A>C (p.Gln251Pro) n.348A>C n.972A>C c.332A>C (p.Gln111Pro) c.2574-1057A>C (n.2574-1057A>C) c.2858A>C (p.Gln953Pro) c.2846A>C (p.Gln949Pro) c.2738A>C (p.Gln913Pro) c.1976A>C (p.Gln659Pro) c.1133A>C (p.Gln378Pro) c.998A>C (p.Gln333Pro) c.878A>C (p.Gln293Pro) c.2492A>C (p.Gln831Pro) c.941A>C (p.Gln314Pro) c.887A>C (p.Gln296Pro) c.632A>C (p.Gln211Pro) c.578A>C (p.Gln193Pro) c.714-1057A>C (n.714-1057A>C) n.3245A>C n.3683A>C n.3029A>C n.3343A>C c.*21008A>C (n.*21008A>C) n.3237A>C | |
| 11 | g.130880769G>A | CA383457881 | SNX19 | c.2611C>T (p.Gln871Ter) c.115C>T (p.Gln39Ter) n.178-1058C>T n.373C>T c.751C>T (p.Gln251Ter) n.347C>T n.971C>T c.331C>T (p.Gln111Ter) c.2574-1058C>T (n.2574-1058C>T) c.2857C>T (p.Gln953Ter) c.2845C>T (p.Gln949Ter) c.2737C>T (p.Gln913Ter) c.1975C>T (p.Gln659Ter) c.1132C>T (p.Gln378Ter) c.997C>T (p.Gln333Ter) c.877C>T (p.Gln293Ter) c.2491C>T (p.Gln831Ter) c.940C>T (p.Gln314Ter) c.886C>T (p.Gln296Ter) c.631C>T (p.Gln211Ter) c.577C>T (p.Gln193Ter) c.714-1058C>T (n.714-1058C>T) n.3244C>T n.3682C>T n.3028C>T n.3342C>T c.*21007C>T (n.*21007C>T) n.3236C>T | gnomAD v4 |
| 11 | g.130880769G>C | CA383457882 | SNX19 | c.2611C>G (p.Gln871Glu) c.115C>G (p.Gln39Glu) n.178-1058C>G n.373C>G c.751C>G (p.Gln251Glu) n.347C>G n.971C>G c.331C>G (p.Gln111Glu) c.2574-1058C>G (n.2574-1058C>G) c.2857C>G (p.Gln953Glu) c.2845C>G (p.Gln949Glu) c.2737C>G (p.Gln913Glu) c.1975C>G (p.Gln659Glu) c.1132C>G (p.Gln378Glu) c.997C>G (p.Gln333Glu) c.877C>G (p.Gln293Glu) c.2491C>G (p.Gln831Glu) c.940C>G (p.Gln314Glu) c.886C>G (p.Gln296Glu) c.631C>G (p.Gln211Glu) c.577C>G (p.Gln193Glu) c.714-1058C>G (n.714-1058C>G) n.3244C>G n.3682C>G n.3028C>G n.3342C>G c.*21007C>G (n.*21007C>G) n.3236C>G | |
| 11 | g.130880769G>T | CA383457883 | SNX19 | c.2611C>A (p.Gln871Lys) c.115C>A (p.Gln39Lys) n.178-1058C>A n.373C>A c.751C>A (p.Gln251Lys) n.347C>A n.971C>A c.331C>A (p.Gln111Lys) c.2574-1058C>A (n.2574-1058C>A) c.2857C>A (p.Gln953Lys) c.2845C>A (p.Gln949Lys) c.2737C>A (p.Gln913Lys) c.1975C>A (p.Gln659Lys) c.1132C>A (p.Gln378Lys) c.997C>A (p.Gln333Lys) c.877C>A (p.Gln293Lys) c.2491C>A (p.Gln831Lys) c.940C>A (p.Gln314Lys) c.886C>A (p.Gln296Lys) c.631C>A (p.Gln211Lys) c.577C>A (p.Gln193Lys) c.714-1058C>A (n.714-1058C>A) n.3244C>A n.3682C>A n.3028C>A n.3342C>A c.*21007C>A (n.*21007C>A) n.3236C>A | |
| 11 | g.130880770T>A | CA477582339 | SNX19 | c.2610A>T (p.Pro870=) c.114A>T (p.Pro38=) n.178-1059A>T n.372A>T c.750A>T (p.Pro250=) n.346A>T n.970A>T c.330A>T (p.Pro110=) c.2574-1059A>T (n.2574-1059A>T) c.2856A>T (p.Pro952=) c.2844A>T (p.Pro948=) c.2736A>T (p.Pro912=) c.1974A>T (p.Pro658=) c.1131A>T (p.Pro377=) c.996A>T (p.Pro332=) c.876A>T (p.Pro292=) c.2490A>T (p.Pro830=) c.939A>T (p.Pro313=) c.885A>T (p.Pro295=) c.630A>T (p.Pro210=) c.576A>T (p.Pro192=) c.714-1059A>T (n.714-1059A>T) n.3243A>T n.3681A>T n.3027A>T n.3341A>T c.*21006A>T (n.*21006A>T) n.3235A>T | gnomAD v4 |