Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.125318695C>A | CA358119994 | FAT4 | c.2284C>A (p.Gln762Lys) c.-55+2718C>A (n.-55+2718C>A) | |
4 | g.125318695C= | CA1491602634 | FAT4 | c.2284C= (p.Gln762=) c.-55+2718C= (n.-55+2718C=) | |
4 | g.125318695C>G | CA358119995 | FAT4 | c.2284C>G (p.Gln762Glu) c.-55+2718C>G (n.-55+2718C>G) | |
4 | g.125318695C>T | CA358119996 | FAT4 | c.2284C>T (p.Gln762Ter) c.-55+2718C>T (n.-55+2718C>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125318696A>C | CA358119997 | FAT4 | c.2285A>C (p.Gln762Pro) c.-55+2719A>C (n.-55+2719A>C) | |
4 | g.125318696A>G | CA358119999 | FAT4 | c.2285A>G (p.Gln762Arg) c.-55+2719A>G (n.-55+2719A>G) | |
4 | g.125318696A>T | CA358119998 | FAT4 | c.2285A>T (p.Gln762Leu) c.-55+2719A>T (n.-55+2719A>T) | |
4 | g.125318697A= | CA1491602636 | FAT4 | c.2286A= (p.Gln762=) c.-55+2720A= (n.-55+2720A=) | |
4 | g.125318697A>C | CA358120000 | FAT4 | c.2286A>C (p.Gln762His) c.-55+2720A>C (n.-55+2720A>C) | gnomAD v4 |
4 | g.125318697A>G | CA3072140 | FAT4 | c.2286A>G (p.Gln762=) c.-55+2720A>G (n.-55+2720A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125318697A>T | CA358120001 | FAT4 | c.2286A>T (p.Gln762His) c.-55+2720A>T (n.-55+2720A>T) | |
4 | g.125318698A= | CA1491602640 | FAT4 | c.2287A= (p.Ile763=) c.-55+2721A= (n.-55+2721A=) | |
4 | g.125318698A>C | CA358120002 | FAT4 | c.2287A>C (p.Ile763Leu) c.-55+2721A>C (n.-55+2721A>C) | |
4 | g.125318698A>G | CA3072141 | FAT4 | c.2287A>G (p.Ile763Val) c.-55+2721A>G (n.-55+2721A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.125318698A>T | CA358120003 | FAT4 | c.2287A>T (p.Ile763Leu) c.-55+2721A>T (n.-55+2721A>T) | |
4 | g.125318699T>A | CA358120004 | FAT4 | c.2288T>A (p.Ile763Lys) c.-55+2722T>A (n.-55+2722T>A) | |
4 | g.125318699T>C | CA104865036 | FAT4 | c.2288T>C (p.Ile763Thr) c.-55+2722T>C (n.-55+2722T>C) | dbSNP gnomAD v4 |
4 | g.125318699T>G | CA358120005 | FAT4 | c.2288T>G (p.Ile763Arg) c.-55+2722T>G (n.-55+2722T>G) | |
4 | g.125318699T= | CA1491602642 | FAT4 | c.2288T= (p.Ile763=) c.-55+2722T= (n.-55+2722T=) | |
4 | g.125318700A>C | CA441367230 | FAT4 | c.2289A>C (p.Ile763=) c.-55+2723A>C (n.-55+2723A>C) | |
4 | g.125318700A>G | CA358120006 | FAT4 | c.2289A>G (p.Ile763Met) c.-55+2723A>G (n.-55+2723A>G) | gnomAD v4 |
4 | g.125318700A>T | CA441367231 | FAT4 | c.2289A>T (p.Ile763=) c.-55+2723A>T (n.-55+2723A>T) | |
4 | g.125318701G>A | CA358120007 | FAT4 | c.2290G>A (p.Val764Ile) c.-55+2724G>A (n.-55+2724G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.125318701G>C | CA358120008 | FAT4 | c.2290G>C (p.Val764Leu) c.-55+2724G>C (n.-55+2724G>C) | gnomAD v4 |
4 | g.125318701G= | CA1491602645 | FAT4 | c.2290G= (p.Val764=) c.-55+2724G= (n.-55+2724G=) | |
4 | g.125318701G>T | CA3072142 | FAT4 | c.2290G>T (p.Val764Leu) c.-55+2724G>T (n.-55+2724G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.125318702T>A | CA358120009 | FAT4 | c.2291T>A (p.Val764Glu) c.-55+2725T>A (n.-55+2725T>A) | |
4 | g.125318702T>C | CA358120010 | FAT4 | c.2291T>C (p.Val764Ala) c.-55+2725T>C (n.-55+2725T>C) | |
4 | g.125318702T>G | CA358120011 | FAT4 | c.2291T>G (p.Val764Gly) c.-55+2725T>G (n.-55+2725T>G) | |
4 | g.125318703A>C | CA441367235 | FAT4 | c.2292A>C (p.Val764=) c.-55+2726A>C (n.-55+2726A>C) | |
4 | g.125318703A>G | CA441367234 | FAT4 | c.2292A>G (p.Val764=) c.-55+2726A>G (n.-55+2726A>G) | |
4 | g.125318703A>T | CA441367233 | FAT4 | c.2292A>T (p.Val764=) c.-55+2726A>T (n.-55+2726A>T) | |
4 | g.125318704G>A | CA358120012 | FAT4 | c.2293G>A (p.Ala765Thr) c.-55+2727G>A (n.-55+2727G>A) | |
4 | g.125318704G>C | CA358120013 | FAT4 | c.2293G>C (p.Ala765Pro) c.-55+2727G>C (n.-55+2727G>C) | |
4 | g.125318704G>T | CA358120014 | FAT4 | c.2293G>T (p.Ala765Ser) c.-55+2727G>T (n.-55+2727G>T) | |
4 | g.125318705C>A | CA358120015 | FAT4 | c.2294C>A (p.Ala765Asp) c.-55+2728C>A (n.-55+2728C>A) | |
4 | g.125318705C= | CA1491602646 | FAT4 | c.2294C= (p.Ala765=) c.-55+2728C= (n.-55+2728C=) | |
4 | g.125318705C>G | CA358120017 | FAT4 | c.2294C>G (p.Ala765Gly) c.-55+2728C>G (n.-55+2728C>G) | |
4 | g.125318705C>T | CA358120016 | FAT4 | c.2294C>T (p.Ala765Val) c.-55+2728C>T (n.-55+2728C>T) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.125318706T>A | CA441367237 | FAT4 | c.2295T>A (p.Ala765=) c.-55+2729T>A (n.-55+2729T>A) | gnomAD v4 |
4 | g.125318706T>C | CA441367239 | FAT4 | c.2295T>C (p.Ala765=) c.-55+2729T>C (n.-55+2729T>C) | |
4 | g.125318706T>G | CA441367240 | FAT4 | c.2295T>G (p.Ala765=) c.-55+2729T>G (n.-55+2729T>G) | |
4 | g.125318707A= | CA1491602648 | FAT4 | c.2296A= (p.Thr766=) c.-55+2730A= (n.-55+2730A=) | |
4 | g.125318707A>C | CA358120018 | FAT4 | c.2296A>C (p.Thr766Pro) c.-55+2730A>C (n.-55+2730A>C) | |
4 | g.125318707A>G | CA358120019 | FAT4 | c.2296A>G (p.Thr766Ala) c.-55+2730A>G (n.-55+2730A>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.125318707A>T | CA358120020 | FAT4 | c.2296A>T (p.Thr766Ser) c.-55+2730A>T (n.-55+2730A>T) | |
4 | g.125318708C>A | CA358120021 | FAT4 | c.2297C>A (p.Thr766Asn) c.-55+2731C>A (n.-55+2731C>A) | |
4 | g.125318708C>G | CA358120022 | FAT4 | c.2297C>G (p.Thr766Ser) c.-55+2731C>G (n.-55+2731C>G) | |
4 | g.125318708C>T | CA358120023 | FAT4 | c.2297C>T (p.Thr766Ile) c.-55+2731C>T (n.-55+2731C>T) | |
4 | g.125318709T>A | CA441367241 | FAT4 | c.2298T>A (p.Thr766=) c.-55+2732T>A (n.-55+2732T>A) | |
4 | g.125318709T>C | CA441367242 | FAT4 | c.2298T>C (p.Thr766=) c.-55+2732T>C (n.-55+2732T>C) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125318709T>G | CA441367243 | FAT4 | c.2298T>G (p.Thr766=) c.-55+2732T>G (n.-55+2732T>G) | |
4 | g.125318709T= | CA1491602650 | FAT4 | c.2298T= (p.Thr766=) c.-55+2732T= (n.-55+2732T=) | |
4 | g.125318710G>A | CA358120024 | FAT4 | c.2299G>A (p.Asp767Asn) c.-55+2733G>A (n.-55+2733G>A) | |
4 | g.125318710G>C | CA358120025 | FAT4 | c.2299G>C (p.Asp767His) c.-55+2733G>C (n.-55+2733G>C) | |
4 | g.125318710G>T | CA358120026 | FAT4 | c.2299G>T (p.Asp767Tyr) c.-55+2733G>T (n.-55+2733G>T) | |
4 | g.125318711A= | CA1491602652 | FAT4 | c.2300A= (p.Asp767=) c.-55+2734A= (n.-55+2734A=) | |
4 | g.125318711A>C | CA358120029 | FAT4 | c.2300A>C (p.Asp767Ala) c.-55+2734A>C (n.-55+2734A>C) | |
4 | g.125318711A>G | CA358120028 | FAT4 | c.2300A>G (p.Asp767Gly) c.-55+2734A>G (n.-55+2734A>G) | dbSNP |
4 | g.125318711A>T | CA358120027 | FAT4 | c.2300A>T (p.Asp767Val) c.-55+2734A>T (n.-55+2734A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125318712T>A | CA358120030 | FAT4 | c.2301T>A (p.Asp767Glu) c.-55+2735T>A (n.-55+2735T>A) | |
4 | g.125318712T>C | CA441367245 | FAT4 | c.2301T>C (p.Asp767=) c.-55+2735T>C (n.-55+2735T>C) | |
4 | g.125318712T>G | CA358120031 | FAT4 | c.2301T>G (p.Asp767Glu) c.-55+2735T>G (n.-55+2735T>G) | |
4 | g.125318713G>A | CA358120032 | FAT4 | c.2302G>A (p.Gly768Ser) c.-55+2736G>A (n.-55+2736G>A) | gnomAD v4 |
4 | g.125318713G>C | CA358120033 | FAT4 | c.2302G>C (p.Gly768Arg) c.-55+2736G>C (n.-55+2736G>C) | |
4 | g.125318713G>T | CA358120034 | FAT4 | c.2302G>T (p.Gly768Cys) c.-55+2736G>T (n.-55+2736G>T) | |
4 | g.125318714G>A | CA358120035 | FAT4 | c.2303G>A (p.Gly768Asp) c.-55+2737G>A (n.-55+2737G>A) | COSMIC COSMIC |
4 | g.125318714G>C | CA358120036 | FAT4 | c.2303G>C (p.Gly768Ala) c.-55+2737G>C (n.-55+2737G>C) | |
4 | g.125318714G>T | CA358120037 | FAT4 | c.2303G>T (p.Gly768Val) c.-55+2737G>T (n.-55+2737G>T) | COSMIC COSMIC |
4 | g.125318715T>A | CA441367246 | FAT4 | c.2304T>A (p.Gly768=) c.-55+2738T>A (n.-55+2738T>A) | |
4 | g.125318715T>C | CA441367247 | FAT4 | c.2304T>C (p.Gly768=) c.-55+2738T>C (n.-55+2738T>C) | |
4 | g.125318715T>G | CA441367248 | FAT4 | c.2304T>G (p.Gly768=) c.-55+2738T>G (n.-55+2738T>G) | |
4 | g.125318716G>A | CA358120038 | FAT4 | c.2305G>A (p.Gly769Ser) c.-55+2739G>A (n.-55+2739G>A) | dbSNP gnomAD v4 |
4 | g.125318716G>C | CA358120039 | FAT4 | c.2305G>C (p.Gly769Arg) c.-55+2739G>C (n.-55+2739G>C) | |
4 | g.125318716G= | CA1491602653 | FAT4 | c.2305G= (p.Gly769=) c.-55+2739G= (n.-55+2739G=) | |
4 | g.125318716G>T | CA358120040 | FAT4 | c.2305G>T (p.Gly769Cys) c.-55+2739G>T (n.-55+2739G>T) | |
4 | g.125318717G>A | CA358120043 | FAT4 | c.2306G>A (p.Gly769Asp) c.-55+2740G>A (n.-55+2740G>A) | gnomAD v4 |
4 | g.125318717G>C | CA358120042 | FAT4 | c.2306G>C (p.Gly769Ala) c.-55+2740G>C (n.-55+2740G>C) | |
4 | g.125318717G>T | CA358120041 | FAT4 | c.2306G>T (p.Gly769Val) c.-55+2740G>T (n.-55+2740G>T) | |
4 | g.125318718C>A | CA441367250 | FAT4 | c.2307C>A (p.Gly769=) c.-55+2741C>A (n.-55+2741C>A) | |
4 | g.125318718C>G | CA441367251 | FAT4 | c.2307C>G (p.Gly769=) c.-55+2741C>G (n.-55+2741C>G) | |
4 | g.125318718C>T | CA441367252 | FAT4 | c.2307C>T (p.Gly769=) c.-55+2741C>T (n.-55+2741C>T) | gnomAD v4 |
4 | g.125318719A>C | CA358120044 | FAT4 | c.2308A>C (p.Asn770His) c.-55+2742A>C (n.-55+2742A>C) | |
4 | g.125318719A>G | CA358120045 | FAT4 | c.2308A>G (p.Asn770Asp) c.-55+2742A>G (n.-55+2742A>G) | gnomAD v4 |
4 | g.125318719A>T | CA358120046 | FAT4 | c.2308A>T (p.Asn770Tyr) c.-55+2742A>T (n.-55+2742A>T) | |
4 | g.125318720A= | CA1491602655 | FAT4 | c.2309A= (p.Asn770=) c.-55+2743A= (n.-55+2743A=) | |
4 | g.125318720A>C | CA358120047 | FAT4 | c.2309A>C (p.Asn770Thr) c.-55+2743A>C (n.-55+2743A>C) | |
4 | g.125318720A>G | CA104865060 | FAT4 | c.2309A>G (p.Asn770Ser) c.-55+2743A>G (n.-55+2743A>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.125318720A>T | CA3072143 | FAT4 | c.2309A>T (p.Asn770Ile) c.-55+2743A>T (n.-55+2743A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125318721T>A | CA358120048 | FAT4 | c.2310T>A (p.Asn770Lys) c.-55+2744T>A (n.-55+2744T>A) | |
4 | g.125318721T>C | CA441367254 | FAT4 | c.2310T>C (p.Asn770=) c.-55+2744T>C (n.-55+2744T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125318721T>G | CA358120049 | FAT4 | c.2310T>G (p.Asn770Lys) c.-55+2744T>G (n.-55+2744T>G) | |
4 | g.125318721T= | CA1491602657 | FAT4 | c.2310T= (p.Asn770=) c.-55+2744T= (n.-55+2744T=) | |
4 | g.125318722T>A | CA358120050 | FAT4 | c.2311T>A (p.Leu771Ile) c.-55+2745T>A (n.-55+2745T>A) | |
4 | g.125318722T>C | CA441367255 | FAT4 | c.2311T>C (p.Leu771=) c.-55+2745T>C (n.-55+2745T>C) | |
4 | g.125318722T>G | CA358120051 | FAT4 | c.2311T>G (p.Leu771Val) c.-55+2745T>G (n.-55+2745T>G) | dbSNP |
4 | g.125318722T= | CA1491602659 | FAT4 | c.2311T= (p.Leu771=) c.-55+2745T= (n.-55+2745T=) | |
4 | g.125318723T>A | CA358120052 | FAT4 | c.2312T>A (p.Leu771Ter) c.-55+2746T>A (n.-55+2746T>A) | |
4 | g.125318723T>C | CA358120053 | FAT4 | c.2312T>C (p.Leu771Ser) c.-55+2746T>C (n.-55+2746T>C) | |
4 | g.125318723T>G | CA358120054 | FAT4 | c.2312T>G (p.Leu771Ter) c.-55+2746T>G (n.-55+2746T>G) | |
4 | g.125318724A= | CA1491602660 | FAT4 | c.2313A= (p.Leu771=) c.-55+2747A= (n.-55+2747A=) | |
4 | g.125318724A>C | CA358120056 | FAT4 | c.2313A>C (p.Leu771Phe) c.-55+2747A>C (n.-55+2747A>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.125318724A>G | CA441367256 | FAT4 | c.2313A>G (p.Leu771=) c.-55+2747A>G (n.-55+2747A>G) | |
4 | g.125318724A>T | CA358120055 | FAT4 | c.2313A>T (p.Leu771Phe) c.-55+2747A>T (n.-55+2747A>T) | |
4 | g.125318725C>A | CA358120057 | FAT4 | c.2314C>A (p.Gln772Lys) c.-55+2748C>A (n.-55+2748C>A) | |
4 | g.125318725C>G | CA358120059 | FAT4 | c.2314C>G (p.Gln772Glu) c.-55+2748C>G (n.-55+2748C>G) | |
4 | g.125318725C>T | CA358120058 | FAT4 | c.2314C>T (p.Gln772Ter) c.-55+2748C>T (n.-55+2748C>T) | |
4 | g.125318726A>C | CA358120060 | FAT4 | c.2315A>C (p.Gln772Pro) c.-55+2749A>C (n.-55+2749A>C) | gnomAD v4 |
4 | g.125318726A>G | CA358120061 | FAT4 | c.2315A>G (p.Gln772Arg) c.-55+2749A>G (n.-55+2749A>G) | |
4 | g.125318726A>T | CA358120062 | FAT4 | c.2315A>T (p.Gln772Leu) c.-55+2749A>T (n.-55+2749A>T) | |
4 | g.125318727A= | CA1491602663 | FAT4 | c.2316A= (p.Gln772=) c.-55+2750A= (n.-55+2750A=) | |
4 | g.125318727A>C | CA3072146 | FAT4 | c.2316A>C (p.Gln772His) c.-55+2750A>C (n.-55+2750A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125318727A>G | CA3072144 | FAT4 | c.2316A>G (p.Gln772=) c.-55+2750A>G (n.-55+2750A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125318727A>T | CA3072145 | FAT4 | c.2316A>T (p.Gln772His) c.-55+2750A>T (n.-55+2750A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.125318728T>A | CA358120063 | FAT4 | c.2317T>A (p.Ser773Thr) c.-55+2751T>A (n.-55+2751T>A) | |
4 | g.125318728T>C | CA358120064 | FAT4 | c.2317T>C (p.Ser773Pro) c.-55+2751T>C (n.-55+2751T>C) | |
4 | g.125318728T>G | CA358120065 | FAT4 | c.2317T>G (p.Ser773Ala) c.-55+2751T>G (n.-55+2751T>G) | |
4 | g.125318729C>A | CA358120066 | FAT4 | c.2318C>A (p.Ser773Tyr) c.-55+2752C>A (n.-55+2752C>A) | |
4 | g.125318729C>G | CA358120067 | FAT4 | c.2318C>G (p.Ser773Cys) c.-55+2752C>G (n.-55+2752C>G) | |
4 | g.125318729C>T | CA358120068 | FAT4 | c.2318C>T (p.Ser773Phe) c.-55+2752C>T (n.-55+2752C>T) | |
4 | g.125318730T>A | CA441367257 | FAT4 | c.2319T>A (p.Ser773=) c.-55+2753T>A (n.-55+2753T>A) | gnomAD v4 |
4 | g.125318730T>C | CA441367258 | FAT4 | c.2319T>C (p.Ser773=) c.-55+2753T>C (n.-55+2753T>C) | |
4 | g.125318730T>G | CA441367260 | FAT4 | c.2319T>G (p.Ser773=) c.-55+2753T>G (n.-55+2753T>G) | |
4 | g.125318731C>A | CA358120071 | FAT4 | c.2320C>A (p.Pro774Thr) c.-55+2754C>A (n.-55+2754C>A) | |
4 | g.125318731C>G | CA358120070 | FAT4 | c.2320C>G (p.Pro774Ala) c.-55+2754C>G (n.-55+2754C>G) | |
4 | g.125318731C>T | CA358120069 | FAT4 | c.2320C>T (p.Pro774Ser) c.-55+2754C>T (n.-55+2754C>T) | gnomAD v4 |
4 | g.125318732C>A | CA358120072 | FAT4 | c.2321C>A (p.Pro774His) c.-55+2755C>A (n.-55+2755C>A) | |
4 | g.125318732C= | CA1491602668 | FAT4 | c.2321C= (p.Pro774=) c.-55+2755C= (n.-55+2755C=) | |
4 | g.125318732C>G | CA358120073 | FAT4 | c.2321C>G (p.Pro774Arg) c.-55+2755C>G (n.-55+2755C>G) | |
4 | g.125318732C>T | CA358120074 | FAT4 | c.2321C>T (p.Pro774Leu) c.-55+2755C>T (n.-55+2755C>T) | dbSNP |
4 | g.125318733C>A | CA441367263 | FAT4 | c.2322C>A (p.Pro774=) c.-55+2756C>A (n.-55+2756C>A) | gnomAD v4 |
4 | g.125318733C= | CA1491602672 | FAT4 | c.2322C= (p.Pro774=) c.-55+2756C= (n.-55+2756C=) | |
4 | g.125318733C>G | CA441367264 | FAT4 | c.2322C>G (p.Pro774=) c.-55+2756C>G (n.-55+2756C>G) | |
4 | g.125318733C>T | CA3072147 | FAT4 | c.2322C>T (p.Pro774=) c.-55+2756C>T (n.-55+2756C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125318734A= | CA1491602675 | FAT4 | c.2323A= (p.Asn775=) c.-55+2757A= (n.-55+2757A=) | |
4 | g.125318734A>C | CA358120075 | FAT4 | c.2323A>C (p.Asn775His) c.-55+2757A>C (n.-55+2757A>C) | gnomAD v4 |
4 | g.125318734A>G | CA104865101 | FAT4 | c.2323A>G (p.Asn775Asp) c.-55+2757A>G (n.-55+2757A>G) | dbSNP |
4 | g.125318734A>T | CA104865097 | FAT4 | c.2323A>T (p.Asn775Tyr) c.-55+2757A>T (n.-55+2757A>T) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.125318735A= | CA1491602679 | FAT4 | c.2324A= (p.Asn775=) c.-55+2758A= (n.-55+2758A=) | |
4 | g.125318735A>C | CA358120076 | FAT4 | c.2324A>C (p.Asn775Thr) c.-55+2758A>C (n.-55+2758A>C) | |
4 | g.125318735A>G | CA3072148 | FAT4 | c.2324A>G (p.Asn775Ser) c.-55+2758A>G (n.-55+2758A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125318735A>T | CA358120077 | FAT4 | c.2324A>T (p.Asn775Ile) c.-55+2758A>T (n.-55+2758A>T) | |
4 | g.125318736C>A | CA358120078 | FAT4 | c.2325C>A (p.Asn775Lys) c.-55+2759C>A (n.-55+2759C>A) | |
4 | g.125318736C>G | CA358120079 | FAT4 | c.2325C>G (p.Asn775Lys) c.-55+2759C>G (n.-55+2759C>G) | |
4 | g.125318736C>T | CA441367268 | FAT4 | c.2325C>T (p.Asn775=) c.-55+2759C>T (n.-55+2759C>T) | |
4 | g.125318737C>A | CA358120082 | FAT4 | c.2326C>A (p.Gln776Lys) c.-55+2760C>A (n.-55+2760C>A) | gnomAD v4 |
4 | g.125318737C>G | CA358120081 | FAT4 | c.2326C>G (p.Gln776Glu) c.-55+2760C>G (n.-55+2760C>G) | |
4 | g.125318737C>T | CA358120080 | FAT4 | c.2326C>T (p.Gln776Ter) c.-55+2760C>T (n.-55+2760C>T) | |
4 | g.125318738A= | CA1491602682 | FAT4 | c.2327A= (p.Gln776=) c.-55+2761A= (n.-55+2761A=) | |
4 | g.125318738A>C | CA358120083 | FAT4 | c.2327A>C (p.Gln776Pro) c.-55+2761A>C (n.-55+2761A>C) | |
4 | g.125318738A>G | CA358120084 | FAT4 | c.2327A>G (p.Gln776Arg) c.-55+2761A>G (n.-55+2761A>G) | |
4 | g.125318738A>T | CA358120085 | FAT4 | c.2327A>T (p.Gln776Leu) c.-55+2761A>T (n.-55+2761A>T) | gnomAD v4 |
4 | g.125318739G>A | CA441367269 | FAT4 | c.2328G>A (p.Gln776=) c.-55+2762G>A (n.-55+2762G>A) | COSMIC COSMIC |
4 | g.125318739G>C | CA358120086 | FAT4 | c.2328G>C (p.Gln776His) c.-55+2762G>C (n.-55+2762G>C) | |
4 | g.125318739G>T | CA358120087 | FAT4 | c.2328G>T (p.Gln776His) c.-55+2762G>T (n.-55+2762G>T) | |
4 | g.125318739_125318744dup | CA555019273 | FAT4 | c.2328_2333dup (p.Ala777_Ile778insMetAla) c.-55+2762_-55+2767dup (n.-55+2762_-55+2767dup) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125318740G>A | CA358120088 | FAT4 | c.2329G>A (p.Ala777Thr) c.-55+2763G>A (n.-55+2763G>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.125318740G>C | CA358120089 | FAT4 | c.2329G>C (p.Ala777Pro) c.-55+2763G>C (n.-55+2763G>C) | |
4 | g.125318740G= | CA1491602687 | FAT4 | c.2329G= (p.Ala777=) c.-55+2763G= (n.-55+2763G=) | |
4 | g.125318740G>T | CA358120090 | FAT4 | c.2329G>T (p.Ala777Ser) c.-55+2763G>T (n.-55+2763G>T) | |
4 | g.125318741C>A | CA358120091 | FAT4 | c.2330C>A (p.Ala777Glu) c.-55+2764C>A (n.-55+2764C>A) | |
4 | g.125318741C>G | CA358120092 | FAT4 | c.2330C>G (p.Ala777Gly) c.-55+2764C>G (n.-55+2764C>G) | |
4 | g.125318741C>T | CA358120093 | FAT4 | c.2330C>T (p.Ala777Val) c.-55+2764C>T (n.-55+2764C>T) | |
4 | g.125318742A= | CA1491602689 | FAT4 | c.2331A= (p.Ala777=) c.-55+2765A= (n.-55+2765A=) | |
4 | g.125318742A>C | CA3072149 | FAT4 | c.2331A>C (p.Ala777=) c.-55+2765A>C (n.-55+2765A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125318742A>G | CA441367272 | FAT4 | c.2331A>G (p.Ala777=) c.-55+2765A>G (n.-55+2765A>G) | |
4 | g.125318742A>T | CA441367271 | FAT4 | c.2331A>T (p.Ala777=) c.-55+2765A>T (n.-55+2765A>T) | |
4 | g.125318743A= | CA1491602692 | FAT4 | c.2332A= (p.Ile778=) c.-55+2766A= (n.-55+2766A=) | |
4 | g.125318743A>C | CA358120095 | FAT4 | c.2332A>C (p.Ile778Leu) c.-55+2766A>C (n.-55+2766A>C) | gnomAD v4 |
4 | g.125318743A>G | CA3072150 | FAT4 | c.2332A>G (p.Ile778Val) c.-55+2766A>G (n.-55+2766A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.125318743A>T | CA358120094 | FAT4 | c.2332A>T (p.Ile778Leu) c.-55+2766A>T (n.-55+2766A>T) | |
4 | g.125318744T>A | CA358120096 | FAT4 | c.2333T>A (p.Ile778Lys) c.-55+2767T>A (n.-55+2767T>A) | |
4 | g.125318744T>C | CA358120097 | FAT4 | c.2333T>C (p.Ile778Thr) c.-55+2767T>C (n.-55+2767T>C) | gnomAD v4 |
4 | g.125318744T>G | CA358120098 | FAT4 | c.2333T>G (p.Ile778Arg) c.-55+2767T>G (n.-55+2767T>G) | |
4 | g.125318745A= | CA1491602694 | FAT4 | c.2334A= (p.Ile778=) c.-55+2768A= (n.-55+2768A=) | |
4 | g.125318745A>C | CA441367275 | FAT4 | c.2334A>C (p.Ile778=) c.-55+2768A>C (n.-55+2768A>C) | |
4 | g.125318745A>G | CA3072151 | FAT4 | c.2334A>G (p.Ile778Met) c.-55+2768A>G (n.-55+2768A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.125318745A>T | CA441367276 | FAT4 | c.2334A>T (p.Ile778=) c.-55+2768A>T (n.-55+2768A>T) | |
4 | g.125318746G>A | CA358120101 | FAT4 | c.2335G>A (p.Val779Ile) c.-55+2769G>A (n.-55+2769G>A) | |
4 | g.125318746G>C | CA358120100 | FAT4 | c.2335G>C (p.Val779Leu) c.-55+2769G>C (n.-55+2769G>C) | |
4 | g.125318746G>T | CA358120099 | FAT4 | c.2335G>T (p.Val779Leu) c.-55+2769G>T (n.-55+2769G>T) | COSMIC COSMIC |
4 | g.125318747T>A | CA358120102 | FAT4 | c.2336T>A (p.Val779Glu) c.-55+2770T>A (n.-55+2770T>A) | |
4 | g.125318747T>C | CA358120103 | FAT4 | c.2336T>C (p.Val779Ala) c.-55+2770T>C (n.-55+2770T>C) | |
4 | g.125318747T>G | CA358120104 | FAT4 | c.2336T>G (p.Val779Gly) c.-55+2770T>G (n.-55+2770T>G) | |
4 | g.125318748A>C | CA441367278 | FAT4 | c.2337A>C (p.Val779=) c.-55+2771A>C (n.-55+2771A>C) | |
4 | g.125318748A>G | CA441367280 | FAT4 | c.2337A>G (p.Val779=) c.-55+2771A>G (n.-55+2771A>G) | |
4 | g.125318748A>T | CA441367282 | FAT4 | c.2337A>T (p.Val779=) c.-55+2771A>T (n.-55+2771A>T) | |
4 | g.125318749A= | CA1491602696 | FAT4 | c.2338A= (p.Thr780=) c.-55+2772A= (n.-55+2772A=) | |
4 | g.125318749A>C | CA358120105 | FAT4 | c.2338A>C (p.Thr780Pro) c.-55+2772A>C (n.-55+2772A>C) | |
4 | g.125318749A>G | CA358120106 | FAT4 | c.2338A>G (p.Thr780Ala) c.-55+2772A>G (n.-55+2772A>G) | gnomAD v4 |
4 | g.125318749A>T | CA358120107 | FAT4 | c.2338A>T (p.Thr780Ser) c.-55+2772A>T (n.-55+2772A>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.125318750C>A | CA358120110 | FAT4 | c.2339C>A (p.Thr780Asn) c.-55+2773C>A (n.-55+2773C>A) | |
4 | g.125318750C>G | CA358120109 | FAT4 | c.2339C>G (p.Thr780Ser) c.-55+2773C>G (n.-55+2773C>G) | |
4 | g.125318750C>T | CA358120108 | FAT4 | c.2339C>T (p.Thr780Ile) c.-55+2773C>T (n.-55+2773C>T) | gnomAD v4 |
4 | g.125318751C>A | CA441367287 | FAT4 | c.2340C>A (p.Thr780=) c.-55+2774C>A (n.-55+2774C>A) | gnomAD v4 |
4 | g.125318751C>G | CA441367285 | FAT4 | c.2340C>G (p.Thr780=) c.-55+2774C>G (n.-55+2774C>G) | |
4 | g.125318751C>T | CA441367286 | FAT4 | c.2340C>T (p.Thr780=) c.-55+2774C>T (n.-55+2774C>T) | gnomAD v4 |
4 | g.125318752A= | CA1491602698 | FAT4 | c.2341A= (p.Ile781=) c.-55+2775A= (n.-55+2775A=) | |
4 | g.125318752A>C | CA358120111 | FAT4 | c.2341A>C (p.Ile781Leu) c.-55+2775A>C (n.-55+2775A>C) | |
4 | g.125318752A>G | CA358120113 | FAT4 | c.2341A>G (p.Ile781Val) c.-55+2775A>G (n.-55+2775A>G) | dbSNP gnomAD v4 |
4 | g.125318752A>T | CA358120112 | FAT4 | c.2341A>T (p.Ile781Phe) c.-55+2775A>T (n.-55+2775A>T) | |
4 | g.125318753T>A | CA358120114 | FAT4 | c.2342T>A (p.Ile781Asn) c.-55+2776T>A (n.-55+2776T>A) | |
4 | g.125318753T>C | CA358120116 | FAT4 | c.2342T>C (p.Ile781Thr) c.-55+2776T>C (n.-55+2776T>C) | |
4 | g.125318753T>G | CA358120115 | FAT4 | c.2342T>G (p.Ile781Ser) c.-55+2776T>G (n.-55+2776T>G) | |
4 | g.125318754C>A | CA441367291 | FAT4 | c.2343C>A (p.Ile781=) c.-55+2777C>A (n.-55+2777C>A) | |
4 | g.125318754C= | CA1491602700 | FAT4 | c.2343C= (p.Ile781=) c.-55+2777C= (n.-55+2777C=) | |
4 | g.125318754C>G | CA358120117 | FAT4 | c.2343C>G (p.Ile781Met) c.-55+2777C>G (n.-55+2777C>G) | |
4 | g.125318754C>T | CA3072152 | FAT4 | c.2343C>T (p.Ile781=) c.-55+2777C>T (n.-55+2777C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125318755A>C | CA358120118 | FAT4 | c.2344A>C (p.Thr782Pro) c.-55+2778A>C (n.-55+2778A>C) | |
4 | g.125318755A>G | CA358120120 | FAT4 | c.2344A>G (p.Thr782Ala) c.-55+2778A>G (n.-55+2778A>G) | |
4 | g.125318755A>T | CA358120119 | FAT4 | c.2344A>T (p.Thr782Ser) c.-55+2778A>T (n.-55+2778A>T) | |
4 | g.125318756C>A | CA358120121 | FAT4 | c.2345C>A (p.Thr782Asn) c.-55+2779C>A (n.-55+2779C>A) | |
4 | g.125318756C>G | CA358120123 | FAT4 | c.2345C>G (p.Thr782Ser) c.-55+2779C>G (n.-55+2779C>G) | gnomAD v4 |
4 | g.125318756C>T | CA358120122 | FAT4 | c.2345C>T (p.Thr782Ile) c.-55+2779C>T (n.-55+2779C>T) | |
4 | g.125318757T>A | CA441367303 | FAT4 | c.2346T>A (p.Thr782=) c.-55+2780T>A (n.-55+2780T>A) | |
4 | g.125318757T>C | CA441367306 | FAT4 | c.2346T>C (p.Thr782=) c.-55+2780T>C (n.-55+2780T>C) | |
4 | g.125318757T>G | CA441367307 | FAT4 | c.2346T>G (p.Thr782=) c.-55+2780T>G (n.-55+2780T>G) | |
4 | g.125318758G>A | CA358120124 | FAT4 | c.2347G>A (p.Val783Ile) c.-55+2781G>A (n.-55+2781G>A) | gnomAD v4 |
4 | g.125318758G>C | CA358120125 | FAT4 | c.2347G>C (p.Val783Leu) c.-55+2781G>C (n.-55+2781G>C) | |
4 | g.125318758G>T | CA358120126 | FAT4 | c.2347G>T (p.Val783Leu) c.-55+2781G>T (n.-55+2781G>T) | |
4 | g.125318759T>A | CA358120127 | FAT4 | c.2348T>A (p.Val783Glu) c.-55+2782T>A (n.-55+2782T>A) | |
4 | g.125318759T>C | CA358120128 | FAT4 | c.2348T>C (p.Val783Ala) c.-55+2782T>C (n.-55+2782T>C) | |
4 | g.125318759T>G | CA358120129 | FAT4 | c.2348T>G (p.Val783Gly) c.-55+2782T>G (n.-55+2782T>G) | |
4 | g.125318760A>C | CA441367308 | FAT4 | c.2349A>C (p.Val783=) c.-55+2783A>C (n.-55+2783A>C) | |
4 | g.125318760A>G | CA441367309 | FAT4 | c.2349A>G (p.Val783=) c.-55+2783A>G (n.-55+2783A>G) | gnomAD v4 |
4 | g.125318760A>T | CA441367310 | FAT4 | c.2349A>T (p.Val783=) c.-55+2783A>T (n.-55+2783A>T) | |
4 | g.125318761T>A | CA3072153 | FAT4 | c.2350T>A (p.Leu784Met) c.-55+2784T>A (n.-55+2784T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125318761T>C | CA441367311 | FAT4 | c.2350T>C (p.Leu784=) c.-55+2784T>C (n.-55+2784T>C) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125318761T>G | CA358120130 | FAT4 | c.2350T>G (p.Leu784Val) c.-55+2784T>G (n.-55+2784T>G) | |
4 | g.125318761T= | CA1491602706 | FAT4 | c.2350T= (p.Leu784=) c.-55+2784T= (n.-55+2784T=) | |
4 | g.125318762T>A | CA358120131 | FAT4 | c.2351T>A (p.Leu784Ter) c.-55+2785T>A (n.-55+2785T>A) | |
4 | g.125318762T>C | CA104865147 | FAT4 | c.2351T>C (p.Leu784Ser) c.-55+2785T>C (n.-55+2785T>C) | dbSNP |
4 | g.125318762T>G | CA358120132 | FAT4 | c.2351T>G (p.Leu784Trp) c.-55+2785T>G (n.-55+2785T>G) | |
4 | g.125318762T= | CA1491602709 | FAT4 | c.2351T= (p.Leu784=) c.-55+2785T= (n.-55+2785T=) | |
4 | g.125318763G>A | CA441367320 | FAT4 | c.2352G>A (p.Leu784=) c.-55+2786G>A (n.-55+2786G>A) | dbSNP COSMIC COSMIC |
4 | g.125318763G>C | CA358120134 | FAT4 | c.2352G>C (p.Leu784Phe) c.-55+2786G>C (n.-55+2786G>C) | |
4 | g.125318763G= | CA1491602711 | FAT4 | c.2352G= (p.Leu784=) c.-55+2786G= (n.-55+2786G=) | |
4 | g.125318763G>T | CA358120133 | FAT4 | c.2352G>T (p.Leu784Phe) c.-55+2786G>T (n.-55+2786G>T) | |
4 | g.125318764G>A | CA3072154 | FAT4 | c.2353G>A (p.Asp785Asn) c.-55+2787G>A (n.-55+2787G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.125318764G>C | CA358120135 | FAT4 | c.2353G>C (p.Asp785His) c.-55+2787G>C (n.-55+2787G>C) | |
4 | g.125318764G= | CA1491602715 | FAT4 | c.2353G= (p.Asp785=) c.-55+2787G= (n.-55+2787G=) | |
4 | g.125318764G>T | CA358120136 | FAT4 | c.2353G>T (p.Asp785Tyr) c.-55+2787G>T (n.-55+2787G>T) | |
4 | g.125318765A= | CA1491602718 | FAT4 | c.2354A= (p.Asp785=) c.-55+2788A= (n.-55+2788A=) | |
4 | g.125318765A>C | CA358120137 | FAT4 | c.2354A>C (p.Asp785Ala) c.-55+2788A>C (n.-55+2788A>C) | |
4 | g.125318765A>G | CA358120138 | FAT4 | c.2354A>G (p.Asp785Gly) c.-55+2788A>G (n.-55+2788A>G) | dbSNP COSMIC COSMIC |
4 | g.125318765A>T | CA358120139 | FAT4 | c.2354A>T (p.Asp785Val) c.-55+2788A>T (n.-55+2788A>T) | |
4 | g.125318766C>A | CA358120140 | FAT4 | c.2355C>A (p.Asp785Glu) c.-55+2789C>A (n.-55+2789C>A) | |
4 | g.125318766C>G | CA358120141 | FAT4 | c.2355C>G (p.Asp785Glu) c.-55+2789C>G (n.-55+2789C>G) | |
4 | g.125318766C>T | CA441367321 | FAT4 | c.2355C>T (p.Asp785=) c.-55+2789C>T (n.-55+2789C>T) | |
4 | g.125318767A>C | CA358120142 | FAT4 | c.2356A>C (p.Thr786Pro) c.-55+2790A>C (n.-55+2790A>C) | |
4 | g.125318767A>G | CA358120143 | FAT4 | c.2356A>G (p.Thr786Ala) c.-55+2790A>G (n.-55+2790A>G) | |
4 | g.125318767A>T | CA358120144 | FAT4 | c.2356A>T (p.Thr786Ser) c.-55+2790A>T (n.-55+2790A>T) | |
4 | g.125318768C>A | CA358120146 | FAT4 | c.2357C>A (p.Thr786Asn) c.-55+2791C>A (n.-55+2791C>A) | |
4 | g.125318768C>G | CA358120147 | FAT4 | c.2357C>G (p.Thr786Ser) c.-55+2791C>G (n.-55+2791C>G) | |
4 | g.125318768C>T | CA358120145 | FAT4 | c.2357C>T (p.Thr786Ile) c.-55+2791C>T (n.-55+2791C>T) | |
4 | g.125318769T>A | CA441367329 | FAT4 | c.2358T>A (p.Thr786=) c.-55+2792T>A (n.-55+2792T>A) | |
4 | g.125318769T>C | CA104865160 | FAT4 | c.2358T>C (p.Thr786=) c.-55+2792T>C (n.-55+2792T>C) | dbSNP |
4 | g.125318769T>G | CA441367330 | FAT4 | c.2358T>G (p.Thr786=) c.-55+2792T>G (n.-55+2792T>G) | |
4 | g.125318769T= | CA1491602721 | FAT4 | c.2358T= (p.Thr786=) c.-55+2792T= (n.-55+2792T=) | |
4 | g.125318770C>A | CA358120148 | FAT4 | c.2359C>A (p.Gln787Lys) c.-55+2793C>A (n.-55+2793C>A) | |
4 | g.125318770C= | CA1491602725 | FAT4 | c.2359C= (p.Gln787=) c.-55+2793C= (n.-55+2793C=) | |
4 | g.125318770C>G | CA358120149 | FAT4 | c.2359C>G (p.Gln787Glu) c.-55+2793C>G (n.-55+2793C>G) | dbSNP |
4 | g.125318770C>T | CA358120150 | FAT4 | c.2359C>T (p.Gln787Ter) c.-55+2793C>T (n.-55+2793C>T) | |
4 | g.125318771A>C | CA358120151 | FAT4 | c.2360A>C (p.Gln787Pro) c.-55+2794A>C (n.-55+2794A>C) | |
4 | g.125318771A>G | CA358120152 | FAT4 | c.2360A>G (p.Gln787Arg) c.-55+2794A>G (n.-55+2794A>G) | |
4 | g.125318771A>T | CA358120153 | FAT4 | c.2360A>T (p.Gln787Leu) c.-55+2794A>T (n.-55+2794A>T) | |
4 | g.125318772A>C | CA358120154 | FAT4 | c.2361A>C (p.Gln787His) c.-55+2795A>C (n.-55+2795A>C) | ClinVar dbSNP |
4 | g.125318772A>G | CA441367334 | FAT4 | c.2361A>G (p.Gln787=) c.-55+2795A>G (n.-55+2795A>G) | gnomAD v4 |
4 | g.125318772A>T | CA358120155 | FAT4 | c.2361A>T (p.Gln787His) c.-55+2795A>T (n.-55+2795A>T) | |
4 | g.125318773G>A | CA358120156 | FAT4 | c.2362G>A (p.Asp788Asn) c.-55+2796G>A (n.-55+2796G>A) | |
4 | g.125318773G>C | CA358120157 | FAT4 | c.2362G>C (p.Asp788His) c.-55+2796G>C (n.-55+2796G>C) | |
4 | g.125318773G>T | CA358120158 | FAT4 | c.2362G>T (p.Asp788Tyr) c.-55+2796G>T (n.-55+2796G>T) | |
4 | g.125318774A= | CA1491602726 | FAT4 | c.2363A= (p.Asp788=) c.-55+2797A= (n.-55+2797A=) | |
4 | g.125318774A>C | CA358120160 | FAT4 | c.2363A>C (p.Asp788Ala) c.-55+2797A>C (n.-55+2797A>C) | COSMIC COSMIC |
4 | g.125318774A>G | CA3072155 | FAT4 | c.2363A>G (p.Asp788Gly) c.-55+2797A>G (n.-55+2797A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125318774A>T | CA358120159 | FAT4 | c.2363A>T (p.Asp788Val) c.-55+2797A>T (n.-55+2797A>T) | |
4 | g.125318775C>A | CA358120161 | FAT4 | c.2364C>A (p.Asp788Glu) c.-55+2798C>A (n.-55+2798C>A) | |
4 | g.125318775C= | CA1491602729 | FAT4 | c.2364C= (p.Asp788=) c.-55+2798C= (n.-55+2798C=) | |
4 | g.125318775C>G | CA358120162 | FAT4 | c.2364C>G (p.Asp788Glu) c.-55+2798C>G (n.-55+2798C>G) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125318775C>T | CA441367343 | FAT4 | c.2364C>T (p.Asp788=) c.-55+2798C>T (n.-55+2798C>T) | gnomAD v4 |
4 | g.125318776A>C | CA358120163 | FAT4 | c.2365A>C (p.Asn789His) c.-55+2799A>C (n.-55+2799A>C) | |
4 | g.125318776A>G | CA358120164 | FAT4 | c.2365A>G (p.Asn789Asp) c.-55+2799A>G (n.-55+2799A>G) | |
4 | g.125318776A>T | CA358120165 | FAT4 | c.2365A>T (p.Asn789Tyr) c.-55+2799A>T (n.-55+2799A>T) | |
4 | g.125318777A= | CA1491602731 | FAT4 | c.2366A= (p.Asn789=) c.-55+2800A= (n.-55+2800A=) | |
4 | g.125318777A>C | CA358120167 | FAT4 | c.2366A>C (p.Asn789Thr) c.-55+2800A>C (n.-55+2800A>C) | |
4 | g.125318777A>G | CA3072156 | FAT4 | c.2366A>G (p.Asn789Ser) c.-55+2800A>G (n.-55+2800A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.125318777A>T | CA358120166 | FAT4 | c.2366A>T (p.Asn789Ile) c.-55+2800A>T (n.-55+2800A>T) | |
4 | g.125318778C>A | CA358120168 | FAT4 | c.2367C>A (p.Asn789Lys) c.-55+2801C>A (n.-55+2801C>A) | |
4 | g.125318778C>G | CA358120169 | FAT4 | c.2367C>G (p.Asn789Lys) c.-55+2801C>G (n.-55+2801C>G) | |
4 | g.125318778C>T | CA441367274 | FAT4 | c.2367C>T (p.Asn789=) c.-55+2801C>T (n.-55+2801C>T) | gnomAD v4 |
4 | g.125318779C>A | CA358120170 | FAT4 | c.2368C>A (p.Pro790Thr) c.-55+2802C>A (n.-55+2802C>A) | |
4 | g.125318779C>G | CA358120171 | FAT4 | c.2368C>G (p.Pro790Ala) c.-55+2802C>G (n.-55+2802C>G) | |
4 | g.125318779C>T | CA358120172 | FAT4 | c.2368C>T (p.Pro790Ser) c.-55+2802C>T (n.-55+2802C>T) | |
4 | g.125318780C>A | CA358120175 | FAT4 | c.2369C>A (p.Pro790Gln) c.-55+2803C>A (n.-55+2803C>A) | |
4 | g.125318780C>G | CA358120174 | FAT4 | c.2369C>G (p.Pro790Arg) c.-55+2803C>G (n.-55+2803C>G) | |
4 | g.125318780C>T | CA358120173 | FAT4 | c.2369C>T (p.Pro790Leu) c.-55+2803C>T (n.-55+2803C>T) | |
4 | g.125318781A>C | CA441367279 | FAT4 | c.2370A>C (p.Pro790=) c.-55+2804A>C (n.-55+2804A>C) | |
4 | g.125318781A>G | CA441367283 | FAT4 | c.2370A>G (p.Pro790=) c.-55+2804A>G (n.-55+2804A>G) | |
4 | g.125318781A>T | CA441367284 | FAT4 | c.2370A>T (p.Pro790=) c.-55+2804A>T (n.-55+2804A>T) | |
4 | g.125318782C>A | CA358120176 | FAT4 | c.2371C>A (p.Pro791Thr) c.-55+2805C>A (n.-55+2805C>A) | |
4 | g.125318782C>G | CA358120177 | FAT4 | c.2371C>G (p.Pro791Ala) c.-55+2805C>G (n.-55+2805C>G) | |
4 | g.125318782C>T | CA358120178 | FAT4 | c.2371C>T (p.Pro791Ser) c.-55+2805C>T (n.-55+2805C>T) | gnomAD v4 |
4 | g.125318783C>A | CA358120179 | FAT4 | c.2372C>A (p.Pro791His) c.-55+2806C>A (n.-55+2806C>A) | dbSNP gnomAD v4 |
4 | g.125318783C= | CA1491602735 | FAT4 | c.2372C= (p.Pro791=) c.-55+2806C= (n.-55+2806C=) | |
4 | g.125318783C>G | CA358120180 | FAT4 | c.2372C>G (p.Pro791Arg) c.-55+2806C>G (n.-55+2806C>G) | |
4 | g.125318783C>T | CA104865175 | FAT4 | c.2372C>T (p.Pro791Leu) c.-55+2806C>T (n.-55+2806C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125318784T>A | CA441367288 | FAT4 | c.2373T>A (p.Pro791=) c.-55+2807T>A (n.-55+2807T>A) | |
4 | g.125318784T>C | CA441367289 | FAT4 | c.2373T>C (p.Pro791=) c.-55+2807T>C (n.-55+2807T>C) | gnomAD v4 |
4 | g.125318784T>G | CA441367290 | FAT4 | c.2373T>G (p.Pro791=) c.-55+2807T>G (n.-55+2807T>G) | gnomAD v4 |
4 | g.125318785G>A | CA3072157 | FAT4 | c.2374G>A (p.Val792Ile) c.-55+2808G>A (n.-55+2808G>A) | dbSNP ExAC gnomAD v4 |
4 | g.125318785G>C | CA358120181 | FAT4 | c.2374G>C (p.Val792Leu) c.-55+2808G>C (n.-55+2808G>C) | gnomAD v4 |
4 | g.125318785G= | CA1491602739 | FAT4 | c.2374G= (p.Val792=) c.-55+2808G= (n.-55+2808G=) | |
4 | g.125318785G>T | CA358120182 | FAT4 | c.2374G>T (p.Val792Leu) c.-55+2808G>T (n.-55+2808G>T) | gnomAD v4 |
4 | g.125318786T>A | CA358120183 | FAT4 | c.2375T>A (p.Val792Glu) c.-55+2809T>A (n.-55+2809T>A) | |
4 | g.125318786T>C | CA358120184 | FAT4 | c.2375T>C (p.Val792Ala) c.-55+2809T>C (n.-55+2809T>C) | |
4 | g.125318786T>G | CA358120185 | FAT4 | c.2375T>G (p.Val792Gly) c.-55+2809T>G (n.-55+2809T>G) | |
4 | g.125318787A= | CA1491602741 | FAT4 | c.2376A= (p.Val792=) c.-55+2810A= (n.-55+2810A=) | |
4 | g.125318787A>C | CA441367299 | FAT4 | c.2376A>C (p.Val792=) c.-55+2810A>C (n.-55+2810A>C) | |
4 | g.125318787A>G | CA3072158 | FAT4 | c.2376A>G (p.Val792=) c.-55+2810A>G (n.-55+2810A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125318787A>T | CA441367301 | FAT4 | c.2376A>T (p.Val792=) c.-55+2810A>T (n.-55+2810A>T) | |
4 | g.125318788T>A | CA358120188 | FAT4 | c.2377T>A (p.Phe793Ile) c.-55+2811T>A (n.-55+2811T>A) | |
4 | g.125318788T>C | CA358120187 | FAT4 | c.2377T>C (p.Phe793Leu) c.-55+2811T>C (n.-55+2811T>C) | |
4 | g.125318788T>G | CA358120186 | FAT4 | c.2377T>G (p.Phe793Val) c.-55+2811T>G (n.-55+2811T>G) | |
4 | g.125318789T>A | CA358120189 | FAT4 | c.2378T>A (p.Phe793Tyr) c.-55+2812T>A (n.-55+2812T>A) | |
4 | g.125318789T>C | CA358120190 | FAT4 | c.2378T>C (p.Phe793Ser) c.-55+2812T>C (n.-55+2812T>C) | |
4 | g.125318789T>G | CA358120191 | FAT4 | c.2378T>G (p.Phe793Cys) c.-55+2812T>G (n.-55+2812T>G) | |
4 | g.125318790C>A | CA358120192 | FAT4 | c.2379C>A (p.Phe793Leu) c.-55+2813C>A (n.-55+2813C>A) | gnomAD v4 |
4 | g.125318790C>G | CA358120193 | FAT4 | c.2379C>G (p.Phe793Leu) c.-55+2813C>G (n.-55+2813C>G) | |
4 | g.125318790C>T | CA441367314 | FAT4 | c.2379C>T (p.Phe793=) c.-55+2813C>T (n.-55+2813C>T) | |
4 | g.125318791A>C | CA358120194 | FAT4 | c.2380A>C (p.Ser794Arg) c.-55+2814A>C (n.-55+2814A>C) | gnomAD v4 |
4 | g.125318791A>G | CA358120195 | FAT4 | c.2380A>G (p.Ser794Gly) c.-55+2814A>G (n.-55+2814A>G) | |
4 | g.125318791A>T | CA358120196 | FAT4 | c.2380A>T (p.Ser794Cys) c.-55+2814A>T (n.-55+2814A>T) | |
4 | g.125318792G>A | CA358120197 | FAT4 | c.2381G>A (p.Ser794Asn) c.-55+2815G>A (n.-55+2815G>A) | |
4 | g.125318792G>C | CA358120198 | FAT4 | c.2381G>C (p.Ser794Thr) c.-55+2815G>C (n.-55+2815G>C) | |
4 | g.125318792G>T | CA358120199 | FAT4 | c.2381G>T (p.Ser794Ile) c.-55+2815G>T (n.-55+2815G>T) | |
4 | g.125318793T>A | CA358120200 | FAT4 | c.2382T>A (p.Ser794Arg) c.-55+2816T>A (n.-55+2816T>A) | |
4 | g.125318793T>C | CA441367328 | FAT4 | c.2382T>C (p.Ser794=) c.-55+2816T>C (n.-55+2816T>C) | |
4 | g.125318793T>G | CA3072159 | FAT4 | c.2382T>G (p.Ser794Arg) c.-55+2816T>G (n.-55+2816T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125318793T= | CA1491602746 | FAT4 | c.2382T= (p.Ser794=) c.-55+2816T= (n.-55+2816T=) | |
4 | g.125318794C>A | CA358120202 | FAT4 | c.2383C>A (p.Gln795Lys) c.-55+2817C>A (n.-55+2817C>A) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125318794C= | CA1491602748 | FAT4 | c.2383C= (p.Gln795=) c.-55+2817C= (n.-55+2817C=) | |
4 | g.125318794C>G | CA358120203 | FAT4 | c.2383C>G (p.Gln795Glu) c.-55+2817C>G (n.-55+2817C>G) | |
4 | g.125318794C>T | CA358120201 | FAT4 | c.2383C>T (p.Gln795Ter) c.-55+2817C>T (n.-55+2817C>T) | |
4 | g.125318795A>C | CA358120204 | FAT4 | c.2384A>C (p.Gln795Pro) c.-55+2818A>C (n.-55+2818A>C) | |
4 | g.125318795A>G | CA358120205 | FAT4 | c.2384A>G (p.Gln795Arg) c.-55+2818A>G (n.-55+2818A>G) | |
4 | g.125318795A>T | CA358120206 | FAT4 | c.2384A>T (p.Gln795Leu) c.-55+2818A>T (n.-55+2818A>T) |