Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.125318684C>ACA3072138FAT4c.2273C>A (p.Ala758Asp)
c.-55+2707C>A (n.-55+2707C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.125318684C=CA1491602615FAT4c.2273C= (p.Ala758=)
c.-55+2707C= (n.-55+2707C=)
4g.125318684C>GCA104865025FAT4c.2273C>G (p.Ala758Gly)
c.-55+2707C>G (n.-55+2707C>G)
ClinVar dbSNP gnomAD v4
4g.125318684C>TCA3072137FAT4c.2273C>T (p.Ala758Val)
c.-55+2707C>T (n.-55+2707C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125318685T>ACA441367216FAT4c.2274T>A (p.Ala758=)
c.-55+2708T>A (n.-55+2708T>A)
4g.125318685T>CCA441367217FAT4c.2274T>C (p.Ala758=)
c.-55+2708T>C (n.-55+2708T>C)
dbSNP gnomAD v2 gnomAD v4
4g.125318685T>GCA441367218FAT4c.2274T>G (p.Ala758=)
c.-55+2708T>G (n.-55+2708T>G)
4g.125318685T=CA1491602621FAT4c.2274T= (p.Ala758=)
c.-55+2708T= (n.-55+2708T=)
4g.125318686T>ACA358119973FAT4c.2275T>A (p.Tyr759Asn)
c.-55+2709T>A (n.-55+2709T>A)
4g.125318686T>CCA358119974FAT4c.2275T>C (p.Tyr759His)
c.-55+2709T>C (n.-55+2709T>C)
4g.125318686T>GCA358119975FAT4c.2275T>G (p.Tyr759Asp)
c.-55+2709T>G (n.-55+2709T>G)
4g.125318687A=CA1491602623FAT4c.2276A= (p.Tyr759=)
c.-55+2710A= (n.-55+2710A=)
4g.125318687A>CCA358119978FAT4c.2276A>C (p.Tyr759Ser)
c.-55+2710A>C (n.-55+2710A>C)
4g.125318687A>GCA358119976FAT4c.2276A>G (p.Tyr759Cys)
c.-55+2710A>G (n.-55+2710A>G)
dbSNP gnomAD v2
4g.125318687A>TCA358119977FAT4c.2276A>T (p.Tyr759Phe)
c.-55+2710A>T (n.-55+2710A>T)
dbSNP
4g.125318688T>ACA358119979FAT4c.2277T>A (p.Tyr759Ter)
c.-55+2711T>A (n.-55+2711T>A)
4g.125318688T>CCA441367220FAT4c.2277T>C (p.Tyr759=)
c.-55+2711T>C (n.-55+2711T>C)
ClinVar gnomAD v4
4g.125318688T>GCA358119980FAT4c.2277T>G (p.Tyr759Ter)
c.-55+2711T>G (n.-55+2711T>G)
4g.125318689C>ACA358119981FAT4c.2278C>A (p.Gln760Lys)
c.-55+2712C>A (n.-55+2712C>A)
4g.125318689C>GCA358119982FAT4c.2278C>G (p.Gln760Glu)
c.-55+2712C>G (n.-55+2712C>G)
4g.125318689C>TCA358119983FAT4c.2278C>T (p.Gln760Ter)
c.-55+2712C>T (n.-55+2712C>T)
COSMIC COSMIC
4g.125318690A=CA1491602627FAT4c.2279A= (p.Gln760=)
c.-55+2713A= (n.-55+2713A=)
4g.125318690A>CCA358119985FAT4c.2279A>C (p.Gln760Pro)
c.-55+2713A>C (n.-55+2713A>C)
4g.125318690A>GCA104865026FAT4c.2279A>G (p.Gln760Arg)
c.-55+2713A>G (n.-55+2713A>G)
dbSNP gnomAD v3 gnomAD v4
4g.125318690A>TCA358119984FAT4c.2279A>T (p.Gln760Leu)
c.-55+2713A>T (n.-55+2713A>T)
gnomAD v4
4g.125318691G>ACA441367221FAT4c.2280G>A (p.Gln760=)
c.-55+2714G>A (n.-55+2714G>A)
4g.125318691G>CCA358119986FAT4c.2280G>C (p.Gln760His)
c.-55+2714G>C (n.-55+2714G>C)
dbSNP
4g.125318691G=CA1491602629FAT4c.2280G= (p.Gln760=)
c.-55+2714G= (n.-55+2714G=)
4g.125318691G>TCA358119987FAT4c.2280G>T (p.Gln760His)
c.-55+2714G>T (n.-55+2714G>T)
4g.125318692T>ACA358119988FAT4c.2281T>A (p.Leu761Met)
c.-55+2715T>A (n.-55+2715T>A)
4g.125318692T>CCA441367224FAT4c.2281T>C (p.Leu761=)
c.-55+2715T>C (n.-55+2715T>C)
dbSNP gnomAD v2 gnomAD v4
4g.125318692T>GCA358119989FAT4c.2281T>G (p.Leu761Val)
c.-55+2715T>G (n.-55+2715T>G)
4g.125318692T=CA1491602631FAT4c.2281T= (p.Leu761=)
c.-55+2715T= (n.-55+2715T=)
4g.125318693T>ACA358119990FAT4c.2282T>A (p.Leu761Ter)
c.-55+2716T>A (n.-55+2716T>A)
4g.125318693T>CCA358119991FAT4c.2282T>C (p.Leu761Ser)
c.-55+2716T>C (n.-55+2716T>C)
4g.125318693T>GCA358119992FAT4c.2282T>G (p.Leu761Trp)
c.-55+2716T>G (n.-55+2716T>G)
4g.125318694G>ACA441367226FAT4c.2283G>A (p.Leu761=)
c.-55+2717G>A (n.-55+2717G>A)
4g.125318694G>CCA358119993FAT4c.2283G>C (p.Leu761Phe)
c.-55+2717G>C (n.-55+2717G>C)
4g.125318694G=CA1491602632FAT4c.2283G= (p.Leu761=)
c.-55+2717G= (n.-55+2717G=)
4g.125318694G>TCA3072139FAT4c.2283G>T (p.Leu761Phe)
c.-55+2717G>T (n.-55+2717G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.125318695C>ACA358119994FAT4c.2284C>A (p.Gln762Lys)
c.-55+2718C>A (n.-55+2718C>A)
4g.125318695C=CA1491602634FAT4c.2284C= (p.Gln762=)
c.-55+2718C= (n.-55+2718C=)
4g.125318695C>GCA358119995FAT4c.2284C>G (p.Gln762Glu)
c.-55+2718C>G (n.-55+2718C>G)
4g.125318695C>TCA358119996FAT4c.2284C>T (p.Gln762Ter)
c.-55+2718C>T (n.-55+2718C>T)
dbSNP gnomAD v2 gnomAD v4
4g.125318696A>CCA358119997FAT4c.2285A>C (p.Gln762Pro)
c.-55+2719A>C (n.-55+2719A>C)
4g.125318696A>GCA358119999FAT4c.2285A>G (p.Gln762Arg)
c.-55+2719A>G (n.-55+2719A>G)
4g.125318696A>TCA358119998FAT4c.2285A>T (p.Gln762Leu)
c.-55+2719A>T (n.-55+2719A>T)
4g.125318697A=CA1491602636FAT4c.2286A= (p.Gln762=)
c.-55+2720A= (n.-55+2720A=)
4g.125318697A>CCA358120000FAT4c.2286A>C (p.Gln762His)
c.-55+2720A>C (n.-55+2720A>C)
gnomAD v4
4g.125318697A>GCA3072140FAT4c.2286A>G (p.Gln762=)
c.-55+2720A>G (n.-55+2720A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125318697A>TCA358120001FAT4c.2286A>T (p.Gln762His)
c.-55+2720A>T (n.-55+2720A>T)
4g.125318698A=CA1491602640FAT4c.2287A= (p.Ile763=)
c.-55+2721A= (n.-55+2721A=)
4g.125318698A>CCA358120002FAT4c.2287A>C (p.Ile763Leu)
c.-55+2721A>C (n.-55+2721A>C)
4g.125318698A>GCA3072141FAT4c.2287A>G (p.Ile763Val)
c.-55+2721A>G (n.-55+2721A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125318698A>TCA358120003FAT4c.2287A>T (p.Ile763Leu)
c.-55+2721A>T (n.-55+2721A>T)
4g.125318699T>ACA358120004FAT4c.2288T>A (p.Ile763Lys)
c.-55+2722T>A (n.-55+2722T>A)
4g.125318699T>CCA104865036FAT4c.2288T>C (p.Ile763Thr)
c.-55+2722T>C (n.-55+2722T>C)
dbSNP gnomAD v4
4g.125318699T>GCA358120005FAT4c.2288T>G (p.Ile763Arg)
c.-55+2722T>G (n.-55+2722T>G)
4g.125318699T=CA1491602642FAT4c.2288T= (p.Ile763=)
c.-55+2722T= (n.-55+2722T=)
4g.125318700A>CCA441367230FAT4c.2289A>C (p.Ile763=)
c.-55+2723A>C (n.-55+2723A>C)
4g.125318700A>GCA358120006FAT4c.2289A>G (p.Ile763Met)
c.-55+2723A>G (n.-55+2723A>G)
gnomAD v4
4g.125318700A>TCA441367231FAT4c.2289A>T (p.Ile763=)
c.-55+2723A>T (n.-55+2723A>T)
4g.125318701G>ACA358120007FAT4c.2290G>A (p.Val764Ile)
c.-55+2724G>A (n.-55+2724G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.125318701G>CCA358120008FAT4c.2290G>C (p.Val764Leu)
c.-55+2724G>C (n.-55+2724G>C)
gnomAD v4
4g.125318701G=CA1491602645FAT4c.2290G= (p.Val764=)
c.-55+2724G= (n.-55+2724G=)
4g.125318701G>TCA3072142FAT4c.2290G>T (p.Val764Leu)
c.-55+2724G>T (n.-55+2724G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.125318702T>ACA358120009FAT4c.2291T>A (p.Val764Glu)
c.-55+2725T>A (n.-55+2725T>A)
4g.125318702T>CCA358120010FAT4c.2291T>C (p.Val764Ala)
c.-55+2725T>C (n.-55+2725T>C)
4g.125318702T>GCA358120011FAT4c.2291T>G (p.Val764Gly)
c.-55+2725T>G (n.-55+2725T>G)
4g.125318703A>CCA441367235FAT4c.2292A>C (p.Val764=)
c.-55+2726A>C (n.-55+2726A>C)
4g.125318703A>GCA441367234FAT4c.2292A>G (p.Val764=)
c.-55+2726A>G (n.-55+2726A>G)
4g.125318703A>TCA441367233FAT4c.2292A>T (p.Val764=)
c.-55+2726A>T (n.-55+2726A>T)
4g.125318704G>ACA358120012FAT4c.2293G>A (p.Ala765Thr)
c.-55+2727G>A (n.-55+2727G>A)
4g.125318704G>CCA358120013FAT4c.2293G>C (p.Ala765Pro)
c.-55+2727G>C (n.-55+2727G>C)
4g.125318704G>TCA358120014FAT4c.2293G>T (p.Ala765Ser)
c.-55+2727G>T (n.-55+2727G>T)
4g.125318705C>ACA358120015FAT4c.2294C>A (p.Ala765Asp)
c.-55+2728C>A (n.-55+2728C>A)
4g.125318705C=CA1491602646FAT4c.2294C= (p.Ala765=)
c.-55+2728C= (n.-55+2728C=)
4g.125318705C>GCA358120017FAT4c.2294C>G (p.Ala765Gly)
c.-55+2728C>G (n.-55+2728C>G)
4g.125318705C>TCA358120016FAT4c.2294C>T (p.Ala765Val)
c.-55+2728C>T (n.-55+2728C>T)
dbSNP gnomAD v3 gnomAD v4
4g.125318706T>ACA441367237FAT4c.2295T>A (p.Ala765=)
c.-55+2729T>A (n.-55+2729T>A)
gnomAD v4
4g.125318706T>CCA441367239FAT4c.2295T>C (p.Ala765=)
c.-55+2729T>C (n.-55+2729T>C)
4g.125318706T>GCA441367240FAT4c.2295T>G (p.Ala765=)
c.-55+2729T>G (n.-55+2729T>G)
4g.125318707A=CA1491602648FAT4c.2296A= (p.Thr766=)
c.-55+2730A= (n.-55+2730A=)
4g.125318707A>CCA358120018FAT4c.2296A>C (p.Thr766Pro)
c.-55+2730A>C (n.-55+2730A>C)
4g.125318707A>GCA358120019FAT4c.2296A>G (p.Thr766Ala)
c.-55+2730A>G (n.-55+2730A>G)
dbSNP gnomAD v3 gnomAD v4
4g.125318707A>TCA358120020FAT4c.2296A>T (p.Thr766Ser)
c.-55+2730A>T (n.-55+2730A>T)
4g.125318708C>ACA358120021FAT4c.2297C>A (p.Thr766Asn)
c.-55+2731C>A (n.-55+2731C>A)
4g.125318708C>GCA358120022FAT4c.2297C>G (p.Thr766Ser)
c.-55+2731C>G (n.-55+2731C>G)
4g.125318708C>TCA358120023FAT4c.2297C>T (p.Thr766Ile)
c.-55+2731C>T (n.-55+2731C>T)
4g.125318709T>ACA441367241FAT4c.2298T>A (p.Thr766=)
c.-55+2732T>A (n.-55+2732T>A)
4g.125318709T>CCA441367242FAT4c.2298T>C (p.Thr766=)
c.-55+2732T>C (n.-55+2732T>C)
dbSNP gnomAD v2 gnomAD v4
4g.125318709T>GCA441367243FAT4c.2298T>G (p.Thr766=)
c.-55+2732T>G (n.-55+2732T>G)
4g.125318709T=CA1491602650FAT4c.2298T= (p.Thr766=)
c.-55+2732T= (n.-55+2732T=)
4g.125318710G>ACA358120024FAT4c.2299G>A (p.Asp767Asn)
c.-55+2733G>A (n.-55+2733G>A)
4g.125318710G>CCA358120025FAT4c.2299G>C (p.Asp767His)
c.-55+2733G>C (n.-55+2733G>C)
4g.125318710G>TCA358120026FAT4c.2299G>T (p.Asp767Tyr)
c.-55+2733G>T (n.-55+2733G>T)
4g.125318711A=CA1491602652FAT4c.2300A= (p.Asp767=)
c.-55+2734A= (n.-55+2734A=)
4g.125318711A>CCA358120029FAT4c.2300A>C (p.Asp767Ala)
c.-55+2734A>C (n.-55+2734A>C)
4g.125318711A>GCA358120028FAT4c.2300A>G (p.Asp767Gly)
c.-55+2734A>G (n.-55+2734A>G)
dbSNP
4g.125318711A>TCA358120027FAT4c.2300A>T (p.Asp767Val)
c.-55+2734A>T (n.-55+2734A>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125318712T>ACA358120030FAT4c.2301T>A (p.Asp767Glu)
c.-55+2735T>A (n.-55+2735T>A)
4g.125318712T>CCA441367245FAT4c.2301T>C (p.Asp767=)
c.-55+2735T>C (n.-55+2735T>C)
4g.125318712T>GCA358120031FAT4c.2301T>G (p.Asp767Glu)
c.-55+2735T>G (n.-55+2735T>G)
4g.125318713G>ACA358120032FAT4c.2302G>A (p.Gly768Ser)
c.-55+2736G>A (n.-55+2736G>A)
gnomAD v4
4g.125318713G>CCA358120033FAT4c.2302G>C (p.Gly768Arg)
c.-55+2736G>C (n.-55+2736G>C)
4g.125318713G>TCA358120034FAT4c.2302G>T (p.Gly768Cys)
c.-55+2736G>T (n.-55+2736G>T)
4g.125318714G>ACA358120035FAT4c.2303G>A (p.Gly768Asp)
c.-55+2737G>A (n.-55+2737G>A)
COSMIC COSMIC
4g.125318714G>CCA358120036FAT4c.2303G>C (p.Gly768Ala)
c.-55+2737G>C (n.-55+2737G>C)
4g.125318714G>TCA358120037FAT4c.2303G>T (p.Gly768Val)
c.-55+2737G>T (n.-55+2737G>T)
COSMIC COSMIC
4g.125318715T>ACA441367246FAT4c.2304T>A (p.Gly768=)
c.-55+2738T>A (n.-55+2738T>A)
4g.125318715T>CCA441367247FAT4c.2304T>C (p.Gly768=)
c.-55+2738T>C (n.-55+2738T>C)
4g.125318715T>GCA441367248FAT4c.2304T>G (p.Gly768=)
c.-55+2738T>G (n.-55+2738T>G)
4g.125318716G>ACA358120038FAT4c.2305G>A (p.Gly769Ser)
c.-55+2739G>A (n.-55+2739G>A)
dbSNP gnomAD v4
4g.125318716G>CCA358120039FAT4c.2305G>C (p.Gly769Arg)
c.-55+2739G>C (n.-55+2739G>C)
4g.125318716G=CA1491602653FAT4c.2305G= (p.Gly769=)
c.-55+2739G= (n.-55+2739G=)
4g.125318716G>TCA358120040FAT4c.2305G>T (p.Gly769Cys)
c.-55+2739G>T (n.-55+2739G>T)
4g.125318717G>ACA358120043FAT4c.2306G>A (p.Gly769Asp)
c.-55+2740G>A (n.-55+2740G>A)
gnomAD v4
4g.125318717G>CCA358120042FAT4c.2306G>C (p.Gly769Ala)
c.-55+2740G>C (n.-55+2740G>C)
4g.125318717G>TCA358120041FAT4c.2306G>T (p.Gly769Val)
c.-55+2740G>T (n.-55+2740G>T)
4g.125318718C>ACA441367250FAT4c.2307C>A (p.Gly769=)
c.-55+2741C>A (n.-55+2741C>A)
4g.125318718C>GCA441367251FAT4c.2307C>G (p.Gly769=)
c.-55+2741C>G (n.-55+2741C>G)
4g.125318718C>TCA441367252FAT4c.2307C>T (p.Gly769=)
c.-55+2741C>T (n.-55+2741C>T)
gnomAD v4
4g.125318719A>CCA358120044FAT4c.2308A>C (p.Asn770His)
c.-55+2742A>C (n.-55+2742A>C)
4g.125318719A>GCA358120045FAT4c.2308A>G (p.Asn770Asp)
c.-55+2742A>G (n.-55+2742A>G)
gnomAD v4
4g.125318719A>TCA358120046FAT4c.2308A>T (p.Asn770Tyr)
c.-55+2742A>T (n.-55+2742A>T)
4g.125318720A=CA1491602655FAT4c.2309A= (p.Asn770=)
c.-55+2743A= (n.-55+2743A=)
4g.125318720A>CCA358120047FAT4c.2309A>C (p.Asn770Thr)
c.-55+2743A>C (n.-55+2743A>C)
4g.125318720A>GCA104865060FAT4c.2309A>G (p.Asn770Ser)
c.-55+2743A>G (n.-55+2743A>G)
dbSNP gnomAD v3 gnomAD v4
4g.125318720A>TCA3072143FAT4c.2309A>T (p.Asn770Ile)
c.-55+2743A>T (n.-55+2743A>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125318721T>ACA358120048FAT4c.2310T>A (p.Asn770Lys)
c.-55+2744T>A (n.-55+2744T>A)
4g.125318721T>CCA441367254FAT4c.2310T>C (p.Asn770=)
c.-55+2744T>C (n.-55+2744T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125318721T>GCA358120049FAT4c.2310T>G (p.Asn770Lys)
c.-55+2744T>G (n.-55+2744T>G)
4g.125318721T=CA1491602657FAT4c.2310T= (p.Asn770=)
c.-55+2744T= (n.-55+2744T=)
4g.125318722T>ACA358120050FAT4c.2311T>A (p.Leu771Ile)
c.-55+2745T>A (n.-55+2745T>A)
4g.125318722T>CCA441367255FAT4c.2311T>C (p.Leu771=)
c.-55+2745T>C (n.-55+2745T>C)
4g.125318722T>GCA358120051FAT4c.2311T>G (p.Leu771Val)
c.-55+2745T>G (n.-55+2745T>G)
dbSNP
4g.125318722T=CA1491602659FAT4c.2311T= (p.Leu771=)
c.-55+2745T= (n.-55+2745T=)
4g.125318723T>ACA358120052FAT4c.2312T>A (p.Leu771Ter)
c.-55+2746T>A (n.-55+2746T>A)
4g.125318723T>CCA358120053FAT4c.2312T>C (p.Leu771Ser)
c.-55+2746T>C (n.-55+2746T>C)
4g.125318723T>GCA358120054FAT4c.2312T>G (p.Leu771Ter)
c.-55+2746T>G (n.-55+2746T>G)
4g.125318724A=CA1491602660FAT4c.2313A= (p.Leu771=)
c.-55+2747A= (n.-55+2747A=)
4g.125318724A>CCA358120056FAT4c.2313A>C (p.Leu771Phe)
c.-55+2747A>C (n.-55+2747A>C)
dbSNP gnomAD v3 gnomAD v4
4g.125318724A>GCA441367256FAT4c.2313A>G (p.Leu771=)
c.-55+2747A>G (n.-55+2747A>G)
4g.125318724A>TCA358120055FAT4c.2313A>T (p.Leu771Phe)
c.-55+2747A>T (n.-55+2747A>T)
4g.125318725C>ACA358120057FAT4c.2314C>A (p.Gln772Lys)
c.-55+2748C>A (n.-55+2748C>A)
4g.125318725C>GCA358120059FAT4c.2314C>G (p.Gln772Glu)
c.-55+2748C>G (n.-55+2748C>G)
4g.125318725C>TCA358120058FAT4c.2314C>T (p.Gln772Ter)
c.-55+2748C>T (n.-55+2748C>T)
4g.125318726A>CCA358120060FAT4c.2315A>C (p.Gln772Pro)
c.-55+2749A>C (n.-55+2749A>C)
gnomAD v4
4g.125318726A>GCA358120061FAT4c.2315A>G (p.Gln772Arg)
c.-55+2749A>G (n.-55+2749A>G)
4g.125318726A>TCA358120062FAT4c.2315A>T (p.Gln772Leu)
c.-55+2749A>T (n.-55+2749A>T)
4g.125318727A=CA1491602663FAT4c.2316A= (p.Gln772=)
c.-55+2750A= (n.-55+2750A=)
4g.125318727A>CCA3072146FAT4c.2316A>C (p.Gln772His)
c.-55+2750A>C (n.-55+2750A>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125318727A>GCA3072144FAT4c.2316A>G (p.Gln772=)
c.-55+2750A>G (n.-55+2750A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125318727A>TCA3072145FAT4c.2316A>T (p.Gln772His)
c.-55+2750A>T (n.-55+2750A>T)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.125318728T>ACA358120063FAT4c.2317T>A (p.Ser773Thr)
c.-55+2751T>A (n.-55+2751T>A)
4g.125318728T>CCA358120064FAT4c.2317T>C (p.Ser773Pro)
c.-55+2751T>C (n.-55+2751T>C)
4g.125318728T>GCA358120065FAT4c.2317T>G (p.Ser773Ala)
c.-55+2751T>G (n.-55+2751T>G)
4g.125318729C>ACA358120066FAT4c.2318C>A (p.Ser773Tyr)
c.-55+2752C>A (n.-55+2752C>A)
4g.125318729C>GCA358120067FAT4c.2318C>G (p.Ser773Cys)
c.-55+2752C>G (n.-55+2752C>G)
4g.125318729C>TCA358120068FAT4c.2318C>T (p.Ser773Phe)
c.-55+2752C>T (n.-55+2752C>T)
4g.125318730T>ACA441367257FAT4c.2319T>A (p.Ser773=)
c.-55+2753T>A (n.-55+2753T>A)
gnomAD v4
4g.125318730T>CCA441367258FAT4c.2319T>C (p.Ser773=)
c.-55+2753T>C (n.-55+2753T>C)
4g.125318730T>GCA441367260FAT4c.2319T>G (p.Ser773=)
c.-55+2753T>G (n.-55+2753T>G)
4g.125318731C>ACA358120071FAT4c.2320C>A (p.Pro774Thr)
c.-55+2754C>A (n.-55+2754C>A)
4g.125318731C>GCA358120070FAT4c.2320C>G (p.Pro774Ala)
c.-55+2754C>G (n.-55+2754C>G)
4g.125318731C>TCA358120069FAT4c.2320C>T (p.Pro774Ser)
c.-55+2754C>T (n.-55+2754C>T)
gnomAD v4
4g.125318732C>ACA358120072FAT4c.2321C>A (p.Pro774His)
c.-55+2755C>A (n.-55+2755C>A)
4g.125318732C=CA1491602668FAT4c.2321C= (p.Pro774=)
c.-55+2755C= (n.-55+2755C=)
4g.125318732C>GCA358120073FAT4c.2321C>G (p.Pro774Arg)
c.-55+2755C>G (n.-55+2755C>G)
4g.125318732C>TCA358120074FAT4c.2321C>T (p.Pro774Leu)
c.-55+2755C>T (n.-55+2755C>T)
dbSNP
4g.125318733C>ACA441367263FAT4c.2322C>A (p.Pro774=)
c.-55+2756C>A (n.-55+2756C>A)
gnomAD v4
4g.125318733C=CA1491602672FAT4c.2322C= (p.Pro774=)
c.-55+2756C= (n.-55+2756C=)
4g.125318733C>GCA441367264FAT4c.2322C>G (p.Pro774=)
c.-55+2756C>G (n.-55+2756C>G)
4g.125318733C>TCA3072147FAT4c.2322C>T (p.Pro774=)
c.-55+2756C>T (n.-55+2756C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125318734A=CA1491602675FAT4c.2323A= (p.Asn775=)
c.-55+2757A= (n.-55+2757A=)
4g.125318734A>CCA358120075FAT4c.2323A>C (p.Asn775His)
c.-55+2757A>C (n.-55+2757A>C)
gnomAD v4
4g.125318734A>GCA104865101FAT4c.2323A>G (p.Asn775Asp)
c.-55+2757A>G (n.-55+2757A>G)
dbSNP
4g.125318734A>TCA104865097FAT4c.2323A>T (p.Asn775Tyr)
c.-55+2757A>T (n.-55+2757A>T)
dbSNP gnomAD v3 gnomAD v4
4g.125318735A=CA1491602679FAT4c.2324A= (p.Asn775=)
c.-55+2758A= (n.-55+2758A=)
4g.125318735A>CCA358120076FAT4c.2324A>C (p.Asn775Thr)
c.-55+2758A>C (n.-55+2758A>C)
4g.125318735A>GCA3072148FAT4c.2324A>G (p.Asn775Ser)
c.-55+2758A>G (n.-55+2758A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125318735A>TCA358120077FAT4c.2324A>T (p.Asn775Ile)
c.-55+2758A>T (n.-55+2758A>T)
4g.125318736C>ACA358120078FAT4c.2325C>A (p.Asn775Lys)
c.-55+2759C>A (n.-55+2759C>A)
4g.125318736C>GCA358120079FAT4c.2325C>G (p.Asn775Lys)
c.-55+2759C>G (n.-55+2759C>G)
4g.125318736C>TCA441367268FAT4c.2325C>T (p.Asn775=)
c.-55+2759C>T (n.-55+2759C>T)
4g.125318737C>ACA358120082FAT4c.2326C>A (p.Gln776Lys)
c.-55+2760C>A (n.-55+2760C>A)
gnomAD v4
4g.125318737C>GCA358120081FAT4c.2326C>G (p.Gln776Glu)
c.-55+2760C>G (n.-55+2760C>G)
4g.125318737C>TCA358120080FAT4c.2326C>T (p.Gln776Ter)
c.-55+2760C>T (n.-55+2760C>T)
4g.125318738A=CA1491602682FAT4c.2327A= (p.Gln776=)
c.-55+2761A= (n.-55+2761A=)
4g.125318738A>CCA358120083FAT4c.2327A>C (p.Gln776Pro)
c.-55+2761A>C (n.-55+2761A>C)
4g.125318738A>GCA358120084FAT4c.2327A>G (p.Gln776Arg)
c.-55+2761A>G (n.-55+2761A>G)
4g.125318738A>TCA358120085FAT4c.2327A>T (p.Gln776Leu)
c.-55+2761A>T (n.-55+2761A>T)
gnomAD v4
4g.125318739G>ACA441367269FAT4c.2328G>A (p.Gln776=)
c.-55+2762G>A (n.-55+2762G>A)
COSMIC COSMIC
4g.125318739G>CCA358120086FAT4c.2328G>C (p.Gln776His)
c.-55+2762G>C (n.-55+2762G>C)
4g.125318739G>TCA358120087FAT4c.2328G>T (p.Gln776His)
c.-55+2762G>T (n.-55+2762G>T)
4g.125318739_125318744dupCA555019273FAT4c.2328_2333dup (p.Ala777_Ile778insMetAla)
c.-55+2762_-55+2767dup (n.-55+2762_-55+2767dup)
dbSNP gnomAD v2 gnomAD v4
4g.125318740G>ACA358120088FAT4c.2329G>A (p.Ala777Thr)
c.-55+2763G>A (n.-55+2763G>A)
dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125318740G>CCA358120089FAT4c.2329G>C (p.Ala777Pro)
c.-55+2763G>C (n.-55+2763G>C)
4g.125318740G=CA1491602687FAT4c.2329G= (p.Ala777=)
c.-55+2763G= (n.-55+2763G=)
4g.125318740G>TCA358120090FAT4c.2329G>T (p.Ala777Ser)
c.-55+2763G>T (n.-55+2763G>T)
4g.125318741C>ACA358120091FAT4c.2330C>A (p.Ala777Glu)
c.-55+2764C>A (n.-55+2764C>A)
4g.125318741C>GCA358120092FAT4c.2330C>G (p.Ala777Gly)
c.-55+2764C>G (n.-55+2764C>G)
4g.125318741C>TCA358120093FAT4c.2330C>T (p.Ala777Val)
c.-55+2764C>T (n.-55+2764C>T)
4g.125318742A=CA1491602689FAT4c.2331A= (p.Ala777=)
c.-55+2765A= (n.-55+2765A=)
4g.125318742A>CCA3072149FAT4c.2331A>C (p.Ala777=)
c.-55+2765A>C (n.-55+2765A>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125318742A>GCA441367272FAT4c.2331A>G (p.Ala777=)
c.-55+2765A>G (n.-55+2765A>G)
4g.125318742A>TCA441367271FAT4c.2331A>T (p.Ala777=)
c.-55+2765A>T (n.-55+2765A>T)
4g.125318743A=CA1491602692FAT4c.2332A= (p.Ile778=)
c.-55+2766A= (n.-55+2766A=)
4g.125318743A>CCA358120095FAT4c.2332A>C (p.Ile778Leu)
c.-55+2766A>C (n.-55+2766A>C)
gnomAD v4
4g.125318743A>GCA3072150FAT4c.2332A>G (p.Ile778Val)
c.-55+2766A>G (n.-55+2766A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.125318743A>TCA358120094FAT4c.2332A>T (p.Ile778Leu)
c.-55+2766A>T (n.-55+2766A>T)
4g.125318744T>ACA358120096FAT4c.2333T>A (p.Ile778Lys)
c.-55+2767T>A (n.-55+2767T>A)
4g.125318744T>CCA358120097FAT4c.2333T>C (p.Ile778Thr)
c.-55+2767T>C (n.-55+2767T>C)
gnomAD v4
4g.125318744T>GCA358120098FAT4c.2333T>G (p.Ile778Arg)
c.-55+2767T>G (n.-55+2767T>G)
4g.125318745A=CA1491602694FAT4c.2334A= (p.Ile778=)
c.-55+2768A= (n.-55+2768A=)
4g.125318745A>CCA441367275FAT4c.2334A>C (p.Ile778=)
c.-55+2768A>C (n.-55+2768A>C)
4g.125318745A>GCA3072151FAT4c.2334A>G (p.Ile778Met)
c.-55+2768A>G (n.-55+2768A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.125318745A>TCA441367276FAT4c.2334A>T (p.Ile778=)
c.-55+2768A>T (n.-55+2768A>T)
4g.125318746G>ACA358120101FAT4c.2335G>A (p.Val779Ile)
c.-55+2769G>A (n.-55+2769G>A)
4g.125318746G>CCA358120100FAT4c.2335G>C (p.Val779Leu)
c.-55+2769G>C (n.-55+2769G>C)
4g.125318746G>TCA358120099FAT4c.2335G>T (p.Val779Leu)
c.-55+2769G>T (n.-55+2769G>T)
COSMIC COSMIC
4g.125318747T>ACA358120102FAT4c.2336T>A (p.Val779Glu)
c.-55+2770T>A (n.-55+2770T>A)
4g.125318747T>CCA358120103FAT4c.2336T>C (p.Val779Ala)
c.-55+2770T>C (n.-55+2770T>C)
4g.125318747T>GCA358120104FAT4c.2336T>G (p.Val779Gly)
c.-55+2770T>G (n.-55+2770T>G)
4g.125318748A>CCA441367278FAT4c.2337A>C (p.Val779=)
c.-55+2771A>C (n.-55+2771A>C)
4g.125318748A>GCA441367280FAT4c.2337A>G (p.Val779=)
c.-55+2771A>G (n.-55+2771A>G)
4g.125318748A>TCA441367282FAT4c.2337A>T (p.Val779=)
c.-55+2771A>T (n.-55+2771A>T)
4g.125318749A=CA1491602696FAT4c.2338A= (p.Thr780=)
c.-55+2772A= (n.-55+2772A=)
4g.125318749A>CCA358120105FAT4c.2338A>C (p.Thr780Pro)
c.-55+2772A>C (n.-55+2772A>C)
4g.125318749A>GCA358120106FAT4c.2338A>G (p.Thr780Ala)
c.-55+2772A>G (n.-55+2772A>G)
gnomAD v4
4g.125318749A>TCA358120107FAT4c.2338A>T (p.Thr780Ser)
c.-55+2772A>T (n.-55+2772A>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.125318750C>ACA358120110FAT4c.2339C>A (p.Thr780Asn)
c.-55+2773C>A (n.-55+2773C>A)
4g.125318750C>GCA358120109FAT4c.2339C>G (p.Thr780Ser)
c.-55+2773C>G (n.-55+2773C>G)
4g.125318750C>TCA358120108FAT4c.2339C>T (p.Thr780Ile)
c.-55+2773C>T (n.-55+2773C>T)
gnomAD v4
4g.125318751C>ACA441367287FAT4c.2340C>A (p.Thr780=)
c.-55+2774C>A (n.-55+2774C>A)
gnomAD v4
4g.125318751C>GCA441367285FAT4c.2340C>G (p.Thr780=)
c.-55+2774C>G (n.-55+2774C>G)
4g.125318751C>TCA441367286FAT4c.2340C>T (p.Thr780=)
c.-55+2774C>T (n.-55+2774C>T)
gnomAD v4
4g.125318752A=CA1491602698FAT4c.2341A= (p.Ile781=)
c.-55+2775A= (n.-55+2775A=)
4g.125318752A>CCA358120111FAT4c.2341A>C (p.Ile781Leu)
c.-55+2775A>C (n.-55+2775A>C)
4g.125318752A>GCA358120113FAT4c.2341A>G (p.Ile781Val)
c.-55+2775A>G (n.-55+2775A>G)
dbSNP gnomAD v4
4g.125318752A>TCA358120112FAT4c.2341A>T (p.Ile781Phe)
c.-55+2775A>T (n.-55+2775A>T)
4g.125318753T>ACA358120114FAT4c.2342T>A (p.Ile781Asn)
c.-55+2776T>A (n.-55+2776T>A)
4g.125318753T>CCA358120116FAT4c.2342T>C (p.Ile781Thr)
c.-55+2776T>C (n.-55+2776T>C)
4g.125318753T>GCA358120115FAT4c.2342T>G (p.Ile781Ser)
c.-55+2776T>G (n.-55+2776T>G)
4g.125318754C>ACA441367291FAT4c.2343C>A (p.Ile781=)
c.-55+2777C>A (n.-55+2777C>A)
4g.125318754C=CA1491602700FAT4c.2343C= (p.Ile781=)
c.-55+2777C= (n.-55+2777C=)
4g.125318754C>GCA358120117FAT4c.2343C>G (p.Ile781Met)
c.-55+2777C>G (n.-55+2777C>G)
4g.125318754C>TCA3072152FAT4c.2343C>T (p.Ile781=)
c.-55+2777C>T (n.-55+2777C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125318755A>CCA358120118FAT4c.2344A>C (p.Thr782Pro)
c.-55+2778A>C (n.-55+2778A>C)
4g.125318755A>GCA358120120FAT4c.2344A>G (p.Thr782Ala)
c.-55+2778A>G (n.-55+2778A>G)
4g.125318755A>TCA358120119FAT4c.2344A>T (p.Thr782Ser)
c.-55+2778A>T (n.-55+2778A>T)
4g.125318756C>ACA358120121FAT4c.2345C>A (p.Thr782Asn)
c.-55+2779C>A (n.-55+2779C>A)
4g.125318756C>GCA358120123FAT4c.2345C>G (p.Thr782Ser)
c.-55+2779C>G (n.-55+2779C>G)
gnomAD v4
4g.125318756C>TCA358120122FAT4c.2345C>T (p.Thr782Ile)
c.-55+2779C>T (n.-55+2779C>T)
4g.125318757T>ACA441367303FAT4c.2346T>A (p.Thr782=)
c.-55+2780T>A (n.-55+2780T>A)
4g.125318757T>CCA441367306FAT4c.2346T>C (p.Thr782=)
c.-55+2780T>C (n.-55+2780T>C)
4g.125318757T>GCA441367307FAT4c.2346T>G (p.Thr782=)
c.-55+2780T>G (n.-55+2780T>G)
4g.125318758G>ACA358120124FAT4c.2347G>A (p.Val783Ile)
c.-55+2781G>A (n.-55+2781G>A)
gnomAD v4
4g.125318758G>CCA358120125FAT4c.2347G>C (p.Val783Leu)
c.-55+2781G>C (n.-55+2781G>C)
4g.125318758G>TCA358120126FAT4c.2347G>T (p.Val783Leu)
c.-55+2781G>T (n.-55+2781G>T)
4g.125318759T>ACA358120127FAT4c.2348T>A (p.Val783Glu)
c.-55+2782T>A (n.-55+2782T>A)
4g.125318759T>CCA358120128FAT4c.2348T>C (p.Val783Ala)
c.-55+2782T>C (n.-55+2782T>C)
4g.125318759T>GCA358120129FAT4c.2348T>G (p.Val783Gly)
c.-55+2782T>G (n.-55+2782T>G)
4g.125318760A>CCA441367308FAT4c.2349A>C (p.Val783=)
c.-55+2783A>C (n.-55+2783A>C)
4g.125318760A>GCA441367309FAT4c.2349A>G (p.Val783=)
c.-55+2783A>G (n.-55+2783A>G)
gnomAD v4
4g.125318760A>TCA441367310FAT4c.2349A>T (p.Val783=)
c.-55+2783A>T (n.-55+2783A>T)
4g.125318761T>ACA3072153FAT4c.2350T>A (p.Leu784Met)
c.-55+2784T>A (n.-55+2784T>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125318761T>CCA441367311FAT4c.2350T>C (p.Leu784=)
c.-55+2784T>C (n.-55+2784T>C)
dbSNP gnomAD v2 gnomAD v4
4g.125318761T>GCA358120130FAT4c.2350T>G (p.Leu784Val)
c.-55+2784T>G (n.-55+2784T>G)
4g.125318761T=CA1491602706FAT4c.2350T= (p.Leu784=)
c.-55+2784T= (n.-55+2784T=)
4g.125318762T>ACA358120131FAT4c.2351T>A (p.Leu784Ter)
c.-55+2785T>A (n.-55+2785T>A)
4g.125318762T>CCA104865147FAT4c.2351T>C (p.Leu784Ser)
c.-55+2785T>C (n.-55+2785T>C)
dbSNP
4g.125318762T>GCA358120132FAT4c.2351T>G (p.Leu784Trp)
c.-55+2785T>G (n.-55+2785T>G)
4g.125318762T=CA1491602709FAT4c.2351T= (p.Leu784=)
c.-55+2785T= (n.-55+2785T=)
4g.125318763G>ACA441367320FAT4c.2352G>A (p.Leu784=)
c.-55+2786G>A (n.-55+2786G>A)
dbSNP COSMIC COSMIC
4g.125318763G>CCA358120134FAT4c.2352G>C (p.Leu784Phe)
c.-55+2786G>C (n.-55+2786G>C)
4g.125318763G=CA1491602711FAT4c.2352G= (p.Leu784=)
c.-55+2786G= (n.-55+2786G=)
4g.125318763G>TCA358120133FAT4c.2352G>T (p.Leu784Phe)
c.-55+2786G>T (n.-55+2786G>T)
4g.125318764G>ACA3072154FAT4c.2353G>A (p.Asp785Asn)
c.-55+2787G>A (n.-55+2787G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.125318764G>CCA358120135FAT4c.2353G>C (p.Asp785His)
c.-55+2787G>C (n.-55+2787G>C)
4g.125318764G=CA1491602715FAT4c.2353G= (p.Asp785=)
c.-55+2787G= (n.-55+2787G=)
4g.125318764G>TCA358120136FAT4c.2353G>T (p.Asp785Tyr)
c.-55+2787G>T (n.-55+2787G>T)
4g.125318765A=CA1491602718FAT4c.2354A= (p.Asp785=)
c.-55+2788A= (n.-55+2788A=)
4g.125318765A>CCA358120137FAT4c.2354A>C (p.Asp785Ala)
c.-55+2788A>C (n.-55+2788A>C)
4g.125318765A>GCA358120138FAT4c.2354A>G (p.Asp785Gly)
c.-55+2788A>G (n.-55+2788A>G)
dbSNP COSMIC COSMIC
4g.125318765A>TCA358120139FAT4c.2354A>T (p.Asp785Val)
c.-55+2788A>T (n.-55+2788A>T)
4g.125318766C>ACA358120140FAT4c.2355C>A (p.Asp785Glu)
c.-55+2789C>A (n.-55+2789C>A)
4g.125318766C>GCA358120141FAT4c.2355C>G (p.Asp785Glu)
c.-55+2789C>G (n.-55+2789C>G)
4g.125318766C>TCA441367321FAT4c.2355C>T (p.Asp785=)
c.-55+2789C>T (n.-55+2789C>T)
4g.125318767A>CCA358120142FAT4c.2356A>C (p.Thr786Pro)
c.-55+2790A>C (n.-55+2790A>C)
4g.125318767A>GCA358120143FAT4c.2356A>G (p.Thr786Ala)
c.-55+2790A>G (n.-55+2790A>G)
4g.125318767A>TCA358120144FAT4c.2356A>T (p.Thr786Ser)
c.-55+2790A>T (n.-55+2790A>T)
4g.125318768C>ACA358120146FAT4c.2357C>A (p.Thr786Asn)
c.-55+2791C>A (n.-55+2791C>A)
4g.125318768C>GCA358120147FAT4c.2357C>G (p.Thr786Ser)
c.-55+2791C>G (n.-55+2791C>G)
4g.125318768C>TCA358120145FAT4c.2357C>T (p.Thr786Ile)
c.-55+2791C>T (n.-55+2791C>T)
4g.125318769T>ACA441367329FAT4c.2358T>A (p.Thr786=)
c.-55+2792T>A (n.-55+2792T>A)
4g.125318769T>CCA104865160FAT4c.2358T>C (p.Thr786=)
c.-55+2792T>C (n.-55+2792T>C)
dbSNP
4g.125318769T>GCA441367330FAT4c.2358T>G (p.Thr786=)
c.-55+2792T>G (n.-55+2792T>G)
4g.125318769T=CA1491602721FAT4c.2358T= (p.Thr786=)
c.-55+2792T= (n.-55+2792T=)
4g.125318770C>ACA358120148FAT4c.2359C>A (p.Gln787Lys)
c.-55+2793C>A (n.-55+2793C>A)
4g.125318770C=CA1491602725FAT4c.2359C= (p.Gln787=)
c.-55+2793C= (n.-55+2793C=)
4g.125318770C>GCA358120149FAT4c.2359C>G (p.Gln787Glu)
c.-55+2793C>G (n.-55+2793C>G)
dbSNP
4g.125318770C>TCA358120150FAT4c.2359C>T (p.Gln787Ter)
c.-55+2793C>T (n.-55+2793C>T)
4g.125318771A>CCA358120151FAT4c.2360A>C (p.Gln787Pro)
c.-55+2794A>C (n.-55+2794A>C)
4g.125318771A>GCA358120152FAT4c.2360A>G (p.Gln787Arg)
c.-55+2794A>G (n.-55+2794A>G)
4g.125318771A>TCA358120153FAT4c.2360A>T (p.Gln787Leu)
c.-55+2794A>T (n.-55+2794A>T)
4g.125318772A>CCA358120154FAT4c.2361A>C (p.Gln787His)
c.-55+2795A>C (n.-55+2795A>C)
ClinVar dbSNP
4g.125318772A>GCA441367334FAT4c.2361A>G (p.Gln787=)
c.-55+2795A>G (n.-55+2795A>G)
gnomAD v4
4g.125318772A>TCA358120155FAT4c.2361A>T (p.Gln787His)
c.-55+2795A>T (n.-55+2795A>T)
4g.125318773G>ACA358120156FAT4c.2362G>A (p.Asp788Asn)
c.-55+2796G>A (n.-55+2796G>A)
4g.125318773G>CCA358120157FAT4c.2362G>C (p.Asp788His)
c.-55+2796G>C (n.-55+2796G>C)
4g.125318773G>TCA358120158FAT4c.2362G>T (p.Asp788Tyr)
c.-55+2796G>T (n.-55+2796G>T)
4g.125318774A=CA1491602726FAT4c.2363A= (p.Asp788=)
c.-55+2797A= (n.-55+2797A=)
4g.125318774A>CCA358120160FAT4c.2363A>C (p.Asp788Ala)
c.-55+2797A>C (n.-55+2797A>C)
COSMIC COSMIC
4g.125318774A>GCA3072155FAT4c.2363A>G (p.Asp788Gly)
c.-55+2797A>G (n.-55+2797A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125318774A>TCA358120159FAT4c.2363A>T (p.Asp788Val)
c.-55+2797A>T (n.-55+2797A>T)
4g.125318775C>ACA358120161FAT4c.2364C>A (p.Asp788Glu)
c.-55+2798C>A (n.-55+2798C>A)
4g.125318775C=CA1491602729FAT4c.2364C= (p.Asp788=)
c.-55+2798C= (n.-55+2798C=)
4g.125318775C>GCA358120162FAT4c.2364C>G (p.Asp788Glu)
c.-55+2798C>G (n.-55+2798C>G)
dbSNP gnomAD v2 gnomAD v4
4g.125318775C>TCA441367343FAT4c.2364C>T (p.Asp788=)
c.-55+2798C>T (n.-55+2798C>T)
gnomAD v4
4g.125318776A>CCA358120163FAT4c.2365A>C (p.Asn789His)
c.-55+2799A>C (n.-55+2799A>C)
4g.125318776A>GCA358120164FAT4c.2365A>G (p.Asn789Asp)
c.-55+2799A>G (n.-55+2799A>G)
4g.125318776A>TCA358120165FAT4c.2365A>T (p.Asn789Tyr)
c.-55+2799A>T (n.-55+2799A>T)
4g.125318777A=CA1491602731FAT4c.2366A= (p.Asn789=)
c.-55+2800A= (n.-55+2800A=)
4g.125318777A>CCA358120167FAT4c.2366A>C (p.Asn789Thr)
c.-55+2800A>C (n.-55+2800A>C)
4g.125318777A>GCA3072156FAT4c.2366A>G (p.Asn789Ser)
c.-55+2800A>G (n.-55+2800A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.125318777A>TCA358120166FAT4c.2366A>T (p.Asn789Ile)
c.-55+2800A>T (n.-55+2800A>T)
4g.125318778C>ACA358120168FAT4c.2367C>A (p.Asn789Lys)
c.-55+2801C>A (n.-55+2801C>A)
4g.125318778C>GCA358120169FAT4c.2367C>G (p.Asn789Lys)
c.-55+2801C>G (n.-55+2801C>G)
4g.125318778C>TCA441367274FAT4c.2367C>T (p.Asn789=)
c.-55+2801C>T (n.-55+2801C>T)
gnomAD v4
4g.125318779C>ACA358120170FAT4c.2368C>A (p.Pro790Thr)
c.-55+2802C>A (n.-55+2802C>A)
4g.125318779C>GCA358120171FAT4c.2368C>G (p.Pro790Ala)
c.-55+2802C>G (n.-55+2802C>G)
4g.125318779C>TCA358120172FAT4c.2368C>T (p.Pro790Ser)
c.-55+2802C>T (n.-55+2802C>T)
4g.125318780C>ACA358120175FAT4c.2369C>A (p.Pro790Gln)
c.-55+2803C>A (n.-55+2803C>A)
4g.125318780C>GCA358120174FAT4c.2369C>G (p.Pro790Arg)
c.-55+2803C>G (n.-55+2803C>G)
4g.125318780C>TCA358120173FAT4c.2369C>T (p.Pro790Leu)
c.-55+2803C>T (n.-55+2803C>T)
4g.125318781A>CCA441367279FAT4c.2370A>C (p.Pro790=)
c.-55+2804A>C (n.-55+2804A>C)
4g.125318781A>GCA441367283FAT4c.2370A>G (p.Pro790=)
c.-55+2804A>G (n.-55+2804A>G)
4g.125318781A>TCA441367284FAT4c.2370A>T (p.Pro790=)
c.-55+2804A>T (n.-55+2804A>T)
4g.125318782C>ACA358120176FAT4c.2371C>A (p.Pro791Thr)
c.-55+2805C>A (n.-55+2805C>A)
4g.125318782C>GCA358120177FAT4c.2371C>G (p.Pro791Ala)
c.-55+2805C>G (n.-55+2805C>G)
4g.125318782C>TCA358120178FAT4c.2371C>T (p.Pro791Ser)
c.-55+2805C>T (n.-55+2805C>T)
gnomAD v4
4g.125318783C>ACA358120179FAT4c.2372C>A (p.Pro791His)
c.-55+2806C>A (n.-55+2806C>A)
dbSNP gnomAD v4
4g.125318783C=CA1491602735FAT4c.2372C= (p.Pro791=)
c.-55+2806C= (n.-55+2806C=)
4g.125318783C>GCA358120180FAT4c.2372C>G (p.Pro791Arg)
c.-55+2806C>G (n.-55+2806C>G)
4g.125318783C>TCA104865175FAT4c.2372C>T (p.Pro791Leu)
c.-55+2806C>T (n.-55+2806C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125318784T>ACA441367288FAT4c.2373T>A (p.Pro791=)
c.-55+2807T>A (n.-55+2807T>A)
4g.125318784T>CCA441367289FAT4c.2373T>C (p.Pro791=)
c.-55+2807T>C (n.-55+2807T>C)
gnomAD v4
4g.125318784T>GCA441367290FAT4c.2373T>G (p.Pro791=)
c.-55+2807T>G (n.-55+2807T>G)
gnomAD v4

Number of alleles fetched