Chr Mutation (hg38) CAid Gene Transcript Linkouts
Yg.12778179_12778182delCA2830563627USP9Yc.2800_2803del (p.Glu934PhefsTer7)
n.2812_2815del
c.2566_2569del (p.Glu856PhefsTer7)
c.2815_2818del (p.Glu939PhefsTer7)
Yg.12778180A>CCA415008804USP9Yc.2801A>C (p.Glu934Ala)
n.2813A>C
c.2567A>C (p.Glu856Ala)
c.2816A>C (p.Glu939Ala)
Yg.12778180A>GCA415008805USP9Yc.2801A>G (p.Glu934Gly)
n.2813A>G
c.2567A>G (p.Glu856Gly)
c.2816A>G (p.Glu939Gly)
Yg.12778180A>TCA415008806USP9Yc.2801A>T (p.Glu934Val)
n.2813A>T
c.2567A>T (p.Glu856Val)
c.2816A>T (p.Glu939Val)
Yg.12778181A>CCA415008810USP9Yc.2802A>C (p.Glu934Asp)
n.2814A>C
c.2568A>C (p.Glu856Asp)
c.2817A>C (p.Glu939Asp)
Yg.12778181A>GCA519892581USP9Yc.2802A>G (p.Glu934=)
n.2814A>G
c.2568A>G (p.Glu856=)
c.2817A>G (p.Glu939=)
Yg.12778181A>TCA415008812USP9Yc.2802A>T (p.Glu934Asp)
n.2814A>T
c.2568A>T (p.Glu856Asp)
c.2817A>T (p.Glu939Asp)
Yg.12778182delCA2766241286USP9Yc.2803del (p.Leu935PhefsTer7)
n.2815del
c.2569del (p.Leu857PhefsTer7)
c.2818del (p.Leu940PhefsTer7)
Yg.12778182C>ACA415008818USP9Yc.2803C>A (p.Leu935Ile)
n.2815C>A
c.2569C>A (p.Leu857Ile)
c.2818C>A (p.Leu940Ile)
Yg.12778182C>GCA415008820USP9Yc.2803C>G (p.Leu935Val)
n.2815C>G
c.2569C>G (p.Leu857Val)
c.2818C>G (p.Leu940Val)
Yg.12778182C>TCA415008819USP9Yc.2803C>T (p.Leu935Phe)
n.2815C>T
c.2569C>T (p.Leu857Phe)
c.2818C>T (p.Leu940Phe)
Yg.12778183T>ACA415008824USP9Yc.2804T>A (p.Leu935His)
n.2816T>A
c.2570T>A (p.Leu857His)
c.2819T>A (p.Leu940His)
Yg.12778183T>CCA415008840USP9Yc.2804T>C (p.Leu935Pro)
n.2816T>C
c.2570T>C (p.Leu857Pro)
c.2819T>C (p.Leu940Pro)
Yg.12778183T>GCA415008843USP9Yc.2804T>G (p.Leu935Arg)
n.2816T>G
c.2570T>G (p.Leu857Arg)
c.2819T>G (p.Leu940Arg)
Yg.12778187delCA2563029889USP9Yc.2808del (p.Phe936LeufsTer6)
n.2820del
c.2574del (p.Phe858LeufsTer6)
c.2823del (p.Phe941LeufsTer6)
Yg.12778184T>ACA519892590USP9Yc.2805T>A (p.Leu935=)
n.2817T>A
c.2571T>A (p.Leu857=)
c.2820T>A (p.Leu940=)
Yg.12778184T>CCA519892594USP9Yc.2805T>C (p.Leu935=)
n.2817T>C
c.2571T>C (p.Leu857=)
c.2820T>C (p.Leu940=)
COSMIC
Yg.12778184T>GCA519892596USP9Yc.2805T>G (p.Leu935=)
n.2817T>G
c.2571T>G (p.Leu857=)
c.2820T>G (p.Leu940=)
Yg.12778185T>ACA415008846USP9Yc.2806T>A (p.Phe936Ile)
n.2818T>A
c.2572T>A (p.Phe858Ile)
c.2821T>A (p.Phe941Ile)
Yg.12778185T>CCA415008850USP9Yc.2806T>C (p.Phe936Leu)
n.2818T>C
c.2572T>C (p.Phe858Leu)
c.2821T>C (p.Phe941Leu)
Yg.12778185T>GCA415008853USP9Yc.2806T>G (p.Phe936Val)
n.2818T>G
c.2572T>G (p.Phe858Val)
c.2821T>G (p.Phe941Val)
Yg.12778186T>ACA415008857USP9Yc.2807T>A (p.Phe936Tyr)
n.2819T>A
c.2573T>A (p.Phe858Tyr)
c.2822T>A (p.Phe941Tyr)
Yg.12778186T>CCA415008861USP9Yc.2807T>C (p.Phe936Ser)
n.2819T>C
c.2573T>C (p.Phe858Ser)
c.2822T>C (p.Phe941Ser)
Yg.12778186T>GCA415008871USP9Yc.2807T>G (p.Phe936Cys)
n.2819T>G
c.2573T>G (p.Phe858Cys)
c.2822T>G (p.Phe941Cys)
Yg.12778187T>ACA415008875USP9Yc.2808T>A (p.Phe936Leu)
n.2820T>A
c.2574T>A (p.Phe858Leu)
c.2823T>A (p.Phe941Leu)
Yg.12778187T>CCA519892641USP9Yc.2808T>C (p.Phe936=)
n.2820T>C
c.2574T>C (p.Phe858=)
c.2823T>C (p.Phe941=)
Yg.12778187T>GCA415008876USP9Yc.2808T>G (p.Phe936Leu)
n.2820T>G
c.2574T>G (p.Phe858Leu)
c.2823T>G (p.Phe941Leu)
Yg.12778188G>ACA415008878USP9Yc.2809G>A (p.Val937Met)
n.2821G>A
c.2575G>A (p.Val859Met)
c.2824G>A (p.Val942Met)
Yg.12778188G>CCA415008888USP9Yc.2809G>C (p.Val937Leu)
n.2821G>C
c.2575G>C (p.Val859Leu)
c.2824G>C (p.Val942Leu)
Yg.12778188G>TCA415008883USP9Yc.2809G>T (p.Val937Leu)
n.2821G>T
c.2575G>T (p.Val859Leu)
c.2824G>T (p.Val942Leu)
Yg.12778189T>ACA415008895USP9Yc.2810T>A (p.Val937Glu)
n.2822T>A
c.2576T>A (p.Val859Glu)
c.2825T>A (p.Val942Glu)
Yg.12778189T>CCA415008898USP9Yc.2810T>C (p.Val937Ala)
n.2822T>C
c.2576T>C (p.Val859Ala)
c.2825T>C (p.Val942Ala)
Yg.12778189T>GCA415008902USP9Yc.2810T>G (p.Val937Gly)
n.2822T>G
c.2576T>G (p.Val859Gly)
c.2825T>G (p.Val942Gly)
Yg.12778190G>ACA519892673USP9Yc.2811G>A (p.Val937=)
n.2823G>A
c.2577G>A (p.Val859=)
c.2826G>A (p.Val942=)
Yg.12778190G>CCA519892679USP9Yc.2811G>C (p.Val937=)
n.2823G>C
c.2577G>C (p.Val859=)
c.2826G>C (p.Val942=)
Yg.12778190G>TCA519892684USP9Yc.2811G>T (p.Val937=)
n.2823G>T
c.2577G>T (p.Val859=)
c.2826G>T (p.Val942=)
Yg.12778191G>ACA415008908USP9Yc.2812G>A (p.Gly938Ser)
n.2824G>A
c.2578G>A (p.Gly860Ser)
c.2827G>A (p.Gly943Ser)
Yg.12778191G>CCA415008913USP9Yc.2812G>C (p.Gly938Arg)
n.2824G>C
c.2578G>C (p.Gly860Arg)
c.2827G>C (p.Gly943Arg)
Yg.12778191G>TCA415008915USP9Yc.2812G>T (p.Gly938Cys)
n.2824G>T
c.2578G>T (p.Gly860Cys)
c.2827G>T (p.Gly943Cys)
Yg.12778192G>ACA415008919USP9Yc.2813G>A (p.Gly938Asp)
n.2825G>A
c.2579G>A (p.Gly860Asp)
c.2828G>A (p.Gly943Asp)
Yg.12778192G>CCA415008926USP9Yc.2813G>C (p.Gly938Ala)
n.2825G>C
c.2579G>C (p.Gly860Ala)
c.2828G>C (p.Gly943Ala)
Yg.12778192G>TCA415008928USP9Yc.2813G>T (p.Gly938Val)
n.2825G>T
c.2579G>T (p.Gly860Val)
c.2828G>T (p.Gly943Val)
Yg.12778193T>ACA519892697USP9Yc.2814T>A (p.Gly938=)
n.2826T>A
c.2580T>A (p.Gly860=)
c.2829T>A (p.Gly943=)
Yg.12778193T>CCA519892699USP9Yc.2814T>C (p.Gly938=)
n.2826T>C
c.2580T>C (p.Gly860=)
c.2829T>C (p.Gly943=)
Yg.12778193T>GCA519892702USP9Yc.2814T>G (p.Gly938=)
n.2826T>G
c.2580T>G (p.Gly860=)
c.2829T>G (p.Gly943=)
Yg.12778194G>ACA415008938USP9Yc.2815G>A (p.Gly939Ser)
n.2827G>A
c.2581G>A (p.Gly861Ser)
c.2830G>A (p.Gly944Ser)
Yg.12778194G>CCA415008942USP9Yc.2815G>C (p.Gly939Arg)
n.2827G>C
c.2581G>C (p.Gly861Arg)
c.2830G>C (p.Gly944Arg)
Yg.12778194G>TCA415008934USP9Yc.2815G>T (p.Gly939Cys)
n.2827G>T
c.2581G>T (p.Gly861Cys)
c.2830G>T (p.Gly944Cys)
Yg.12778195G>ACA415008946USP9Yc.2816G>A (p.Gly939Asp)
n.2828G>A
c.2582G>A (p.Gly861Asp)
c.2831G>A (p.Gly944Asp)
Yg.12778195G>CCA415008950USP9Yc.2816G>C (p.Gly939Ala)
n.2828G>C
c.2582G>C (p.Gly861Ala)
c.2831G>C (p.Gly944Ala)
Yg.12778195G>TCA415008952USP9Yc.2816G>T (p.Gly939Val)
n.2828G>T
c.2582G>T (p.Gly861Val)
c.2831G>T (p.Gly944Val)
Yg.12778196T>ACA519892709USP9Yc.2817T>A (p.Gly939=)
n.2829T>A
c.2583T>A (p.Gly861=)
c.2832T>A (p.Gly944=)
Yg.12778196T>CCA519892710USP9Yc.2817T>C (p.Gly939=)
n.2829T>C
c.2583T>C (p.Gly861=)
c.2832T>C (p.Gly944=)
Yg.12778196T>GCA519892711USP9Yc.2817T>G (p.Gly939=)
n.2829T>G
c.2583T>G (p.Gly861=)
c.2832T>G (p.Gly944=)
Yg.12778197G>ACA337719943USP9Yc.2818G>A (p.Glu940Lys)
n.2830G>A
c.2584G>A (p.Glu862Lys)
c.2833G>A (p.Glu945Lys)
dbSNP
Yg.12778197G>CCA415008962USP9Yc.2818G>C (p.Glu940Gln)
n.2830G>C
c.2584G>C (p.Glu862Gln)
c.2833G>C (p.Glu945Gln)
Yg.12778197G=CA2470557541USP9Yc.2818G= (p.Glu940=)
n.2830G=
c.2584G= (p.Glu862=)
c.2833G= (p.Glu945=)
Yg.12778197G>TCA415008965USP9Yc.2818G>T (p.Glu940Ter)
n.2830G>T
c.2584G>T (p.Glu862Ter)
c.2833G>T (p.Glu945Ter)
Yg.12778198A>CCA415008970USP9Yc.2819A>C (p.Glu940Ala)
n.2831A>C
c.2585A>C (p.Glu862Ala)
c.2834A>C (p.Glu945Ala)
Yg.12778198A>GCA415008976USP9Yc.2819A>G (p.Glu940Gly)
n.2831A>G
c.2585A>G (p.Glu862Gly)
c.2834A>G (p.Glu945Gly)
Yg.12778198A>TCA415008975USP9Yc.2819A>T (p.Glu940Val)
n.2831A>T
c.2585A>T (p.Glu862Val)
c.2834A>T (p.Glu945Val)
Yg.12778199G>ACA519892737USP9Yc.2820G>A (p.Glu940=)
n.2832G>A
c.2586G>A (p.Glu862=)
c.2835G>A (p.Glu945=)
Yg.12778199G>CCA415008977USP9Yc.2820G>C (p.Glu940Asp)
n.2832G>C
c.2586G>C (p.Glu862Asp)
c.2835G>C (p.Glu945Asp)
Yg.12778199G>TCA415008979USP9Yc.2820G>T (p.Glu940Asp)
n.2832G>T
c.2586G>T (p.Glu862Asp)
c.2835G>T (p.Glu945Asp)
Yg.12778200C>ACA415008981USP9Yc.2821C>A (p.Leu941Met)
n.2833C>A
c.2587C>A (p.Leu863Met)
c.2836C>A (p.Leu946Met)
Yg.12778200C>GCA415008983USP9Yc.2821C>G (p.Leu941Val)
n.2833C>G
c.2587C>G (p.Leu863Val)
c.2836C>G (p.Leu946Val)
Yg.12778200C>TCA519892742USP9Yc.2821C>T (p.Leu941=)
n.2833C>T
c.2587C>T (p.Leu863=)
c.2836C>T (p.Leu946=)
Yg.12778201T>ACA415008986USP9Yc.2822T>A (p.Leu941Gln)
n.2834T>A
c.2588T>A (p.Leu863Gln)
c.2837T>A (p.Leu946Gln)
Yg.12778201T>CCA415008988USP9Yc.2822T>C (p.Leu941Pro)
n.2834T>C
c.2588T>C (p.Leu863Pro)
c.2837T>C (p.Leu946Pro)
Yg.12778201T>GCA415008987USP9Yc.2822T>G (p.Leu941Arg)
n.2834T>G
c.2588T>G (p.Leu863Arg)
c.2837T>G (p.Leu946Arg)
Yg.12778202G>ACA519892750USP9Yc.2823G>A (p.Leu941=)
n.2835G>A
c.2589G>A (p.Leu863=)
c.2838G>A (p.Leu946=)
Yg.12778202G>CCA519892755USP9Yc.2823G>C (p.Leu941=)
n.2835G>C
c.2589G>C (p.Leu863=)
c.2838G>C (p.Leu946=)
Yg.12778202G>TCA519892759USP9Yc.2823G>T (p.Leu941=)
n.2835G>T
c.2589G>T (p.Leu863=)
c.2838G>T (p.Leu946=)
Yg.12778203A>CCA415008992USP9Yc.2824A>C (p.Ile942Leu)
n.2836A>C
c.2590A>C (p.Ile864Leu)
c.2839A>C (p.Ile947Leu)
Yg.12778203A>GCA415008993USP9Yc.2824A>G (p.Ile942Val)
n.2836A>G
c.2590A>G (p.Ile864Val)
c.2839A>G (p.Ile947Val)
Yg.12778203A>TCA415008995USP9Yc.2824A>T (p.Ile942Leu)
n.2836A>T
c.2590A>T (p.Ile864Leu)
c.2839A>T (p.Ile947Leu)
Yg.12778204T>ACA415008999USP9Yc.2825T>A (p.Ile942Lys)
n.2837T>A
c.2591T>A (p.Ile864Lys)
c.2840T>A (p.Ile947Lys)
Yg.12778204T>CCA415009019USP9Yc.2825T>C (p.Ile942Thr)
n.2837T>C
c.2591T>C (p.Ile864Thr)
c.2840T>C (p.Ile947Thr)
Yg.12778204T>GCA415009022USP9Yc.2825T>G (p.Ile942Arg)
n.2837T>G
c.2591T>G (p.Ile864Arg)
c.2840T>G (p.Ile947Arg)
Yg.12778205A>CCA519892762USP9Yc.2826A>C (p.Ile942=)
n.2838A>C
c.2592A>C (p.Ile864=)
c.2841A>C (p.Ile947=)
Yg.12778205A>GCA415009027USP9Yc.2826A>G (p.Ile942Met)
n.2838A>G
c.2592A>G (p.Ile864Met)
c.2841A>G (p.Ile947Met)
Yg.12778205A>TCA519892766USP9Yc.2826A>T (p.Ile942=)
n.2838A>T
c.2592A>T (p.Ile864=)
c.2841A>T (p.Ile947=)
Yg.12778206G>ACA415009032USP9Yc.2827G>A (p.Asp943Asn)
n.2839G>A
c.2593G>A (p.Asp865Asn)
c.2842G>A (p.Asp948Asn)
Yg.12778206G>CCA415009036USP9Yc.2827G>C (p.Asp943His)
n.2839G>C
c.2593G>C (p.Asp865His)
c.2842G>C (p.Asp948His)
Yg.12778206G>TCA415009038USP9Yc.2827G>T (p.Asp943Tyr)
n.2839G>T
c.2593G>T (p.Asp865Tyr)
c.2842G>T (p.Asp948Tyr)
Yg.12778207A>CCA415009054USP9Yc.2828A>C (p.Asp943Ala)
n.2840A>C
c.2594A>C (p.Asp865Ala)
c.2843A>C (p.Asp948Ala)
Yg.12778207A>GCA415009059USP9Yc.2828A>G (p.Asp943Gly)
n.2840A>G
c.2594A>G (p.Asp865Gly)
c.2843A>G (p.Asp948Gly)
Yg.12778207A>TCA415009056USP9Yc.2828A>T (p.Asp943Val)
n.2840A>T
c.2594A>T (p.Asp865Val)
c.2843A>T (p.Asp948Val)
Yg.12778208T>ACA415009063USP9Yc.2829T>A (p.Asp943Glu)
n.2841T>A
c.2595T>A (p.Asp865Glu)
c.2844T>A (p.Asp948Glu)
Yg.12778208T>CCA519892823USP9Yc.2829T>C (p.Asp943=)
n.2841T>C
c.2595T>C (p.Asp865=)
c.2844T>C (p.Asp948=)
Yg.12778208T>GCA415009070USP9Yc.2829T>G (p.Asp943Glu)
n.2841T>G
c.2595T>G (p.Asp865Glu)
c.2844T>G (p.Asp948Glu)
Yg.12778209T>ACA415009076USP9Yc.2830T>A (p.Ser944Thr)
n.2842T>A
c.2596T>A (p.Ser866Thr)
c.2845T>A (p.Ser949Thr)
Yg.12778209T>CCA415009079USP9Yc.2830T>C (p.Ser944Pro)
n.2842T>C
c.2596T>C (p.Ser866Pro)
c.2845T>C (p.Ser949Pro)
Yg.12778209T>GCA415009078USP9Yc.2830T>G (p.Ser944Ala)
n.2842T>G
c.2596T>G (p.Ser866Ala)
c.2845T>G (p.Ser949Ala)
Yg.12778210C>ACA415009085USP9Yc.2831C>A (p.Ser944Tyr)
n.2843C>A
c.2597C>A (p.Ser866Tyr)
c.2846C>A (p.Ser949Tyr)
Yg.12778210C>GCA415009091USP9Yc.2831C>G (p.Ser944Cys)
n.2843C>G
c.2597C>G (p.Ser866Cys)
c.2846C>G (p.Ser949Cys)
Yg.12778210C>TCA415009087USP9Yc.2831C>T (p.Ser944Phe)
n.2843C>T
c.2597C>T (p.Ser866Phe)
c.2846C>T (p.Ser949Phe)
Yg.12778211T>ACA519892847USP9Yc.2832T>A (p.Ser944=)
n.2844T>A
c.2598T>A (p.Ser866=)
c.2847T>A (p.Ser949=)
Yg.12778211T>CCA519892856USP9Yc.2832T>C (p.Ser944=)
n.2844T>C
c.2598T>C (p.Ser866=)
c.2847T>C (p.Ser949=)
Yg.12778211T>GCA519892860USP9Yc.2832T>G (p.Ser944=)
n.2844T>G
c.2598T>G (p.Ser866=)
c.2847T>G (p.Ser949=)
Yg.12778212G>ACA415009096USP9Yc.2833G>A (p.Glu945Lys)
n.2845G>A
c.2599G>A (p.Glu867Lys)
c.2848G>A (p.Glu950Lys)
Yg.12778212G>CCA415009098USP9Yc.2833G>C (p.Glu945Gln)
n.2845G>C
c.2599G>C (p.Glu867Gln)
c.2848G>C (p.Glu950Gln)
Yg.12778212G>TCA415009102USP9Yc.2833G>T (p.Glu945Ter)
n.2845G>T
c.2599G>T (p.Glu867Ter)
c.2848G>T (p.Glu950Ter)
Yg.12778213A>CCA415009106USP9Yc.2834A>C (p.Glu945Ala)
n.2846A>C
c.2600A>C (p.Glu867Ala)
c.2849A>C (p.Glu950Ala)
Yg.12778213A>GCA415009110USP9Yc.2834A>G (p.Glu945Gly)
n.2846A>G
c.2600A>G (p.Glu867Gly)
c.2849A>G (p.Glu950Gly)
Yg.12778213A>TCA415009112USP9Yc.2834A>T (p.Glu945Val)
n.2846A>T
c.2600A>T (p.Glu867Val)
c.2849A>T (p.Glu950Val)
Yg.12778214A>CCA415009115USP9Yc.2835A>C (p.Glu945Asp)
n.2847A>C
c.2601A>C (p.Glu867Asp)
c.2850A>C (p.Glu950Asp)
Yg.12778214A>GCA519892891USP9Yc.2835A>G (p.Glu945=)
n.2847A>G
c.2601A>G (p.Glu867=)
c.2850A>G (p.Glu950=)
Yg.12778214A>TCA415009118USP9Yc.2835A>T (p.Glu945Asp)
n.2847A>T
c.2601A>T (p.Glu867Asp)
c.2850A>T (p.Glu950Asp)
Yg.12778215G>ACA415009122USP9Yc.2836G>A (p.Asp946Asn)
n.2848G>A
c.2602G>A (p.Asp868Asn)
c.2851G>A (p.Asp951Asn)
Yg.12778215G>CCA415009125USP9Yc.2836G>C (p.Asp946His)
n.2848G>C
c.2602G>C (p.Asp868His)
c.2851G>C (p.Asp951His)
Yg.12778215G>TCA415009132USP9Yc.2836G>T (p.Asp946Tyr)
n.2848G>T
c.2602G>T (p.Asp868Tyr)
c.2851G>T (p.Asp951Tyr)
Yg.12778216A>CCA415009138USP9Yc.2837A>C (p.Asp946Ala)
n.2849A>C
c.2603A>C (p.Asp868Ala)
c.2852A>C (p.Asp951Ala)
Yg.12778216A>GCA415009144USP9Yc.2837A>G (p.Asp946Gly)
n.2849A>G
c.2603A>G (p.Asp868Gly)
c.2852A>G (p.Asp951Gly)
Yg.12778216A>TCA415009141USP9Yc.2837A>T (p.Asp946Val)
n.2849A>T
c.2603A>T (p.Asp868Val)
c.2852A>T (p.Asp951Val)
Yg.12778217T>ACA415009148USP9Yc.2838T>A (p.Asp946Glu)
n.2850T>A
c.2604T>A (p.Asp868Glu)
c.2853T>A (p.Asp951Glu)
Yg.12778217T>CCA519892936USP9Yc.2838T>C (p.Asp946=)
n.2850T>C
c.2604T>C (p.Asp868=)
c.2853T>C (p.Asp951=)
Yg.12778217T>GCA415009149USP9Yc.2838T>G (p.Asp946Glu)
n.2850T>G
c.2604T>G (p.Asp868Glu)
c.2853T>G (p.Asp951Glu)
Yg.12778218G>ACA337719944USP9Yc.2839G>A (p.Asp947Asn)
n.2851G>A
c.2605G>A (p.Asp869Asn)
c.2854G>A (p.Asp952Asn)
dbSNP
Yg.12778218G>CCA415009152USP9Yc.2839G>C (p.Asp947His)
n.2851G>C
c.2605G>C (p.Asp869His)
c.2854G>C (p.Asp952His)
Yg.12778218G=CA2470557542USP9Yc.2839G= (p.Asp947=)
n.2851G=
c.2605G= (p.Asp869=)
c.2854G= (p.Asp952=)
Yg.12778218G>TCA415009154USP9Yc.2839G>T (p.Asp947Tyr)
n.2851G>T
c.2605G>T (p.Asp869Tyr)
c.2854G>T (p.Asp952Tyr)
Yg.12778219A>CCA415009160USP9Yc.2840A>C (p.Asp947Ala)
n.2852A>C
c.2606A>C (p.Asp869Ala)
c.2855A>C (p.Asp952Ala)
Yg.12778219A>GCA415009162USP9Yc.2840A>G (p.Asp947Gly)
n.2852A>G
c.2606A>G (p.Asp869Gly)
c.2855A>G (p.Asp952Gly)
Yg.12778219A>TCA415009166USP9Yc.2840A>T (p.Asp947Val)
n.2852A>T
c.2606A>T (p.Asp869Val)
c.2855A>T (p.Asp952Val)
Yg.12778220C>ACA415009179USP9Yc.2841C>A (p.Asp947Glu)
n.2853C>A
c.2607C>A (p.Asp869Glu)
c.2856C>A (p.Asp952Glu)
Yg.12778220C>GCA415009170USP9Yc.2841C>G (p.Asp947Glu)
n.2853C>G
c.2607C>G (p.Asp869Glu)
c.2856C>G (p.Asp952Glu)
Yg.12778220C>TCA519892969USP9Yc.2841C>T (p.Asp947=)
n.2853C>T
c.2607C>T (p.Asp869=)
c.2856C>T (p.Asp952=)
Yg.12778221A>CCA519892971USP9Yc.2842A>C (p.Arg948=)
n.2854A>C
c.2608A>C (p.Arg870=)
c.2857A>C (p.Arg953=)
Yg.12778221A>GCA415009185USP9Yc.2842A>G (p.Arg948Gly)
n.2854A>G
c.2608A>G (p.Arg870Gly)
c.2857A>G (p.Arg953Gly)
Yg.12778221A>TCA415009191USP9Yc.2842A>T (p.Arg948Ter)
n.2854A>T
c.2608A>T (p.Arg870Ter)
c.2857A>T (p.Arg953Ter)
Yg.12778222G>ACA415009193USP9Yc.2843G>A (p.Arg948Lys)
n.2855G>A
c.2609G>A (p.Arg870Lys)
c.2858G>A (p.Arg953Lys)
Yg.12778222G>CCA415009194USP9Yc.2843G>C (p.Arg948Thr)
n.2855G>C
c.2609G>C (p.Arg870Thr)
c.2858G>C (p.Arg953Thr)
Yg.12778222G>TCA415009198USP9Yc.2843G>T (p.Arg948Ile)
n.2855G>T
c.2609G>T (p.Arg870Ile)
c.2858G>T (p.Arg953Ile)
Yg.12778223A>CCA415009201USP9Yc.2844A>C (p.Arg948Ser)
n.2856A>C
c.2610A>C (p.Arg870Ser)
c.2859A>C (p.Arg953Ser)
Yg.12778223A>GCA519892990USP9Yc.2844A>G (p.Arg948=)
n.2856A>G
c.2610A>G (p.Arg870=)
c.2859A>G (p.Arg953=)
Yg.12778223A>TCA415009206USP9Yc.2844A>T (p.Arg948Ser)
n.2856A>T
c.2610A>T (p.Arg870Ser)
c.2859A>T (p.Arg953Ser)
Yg.12778224A>CCA415009209USP9Yc.2845A>C (p.Lys949Gln)
n.2857A>C
c.2611A>C (p.Lys871Gln)
c.2860A>C (p.Lys954Gln)
Yg.12778224A>GCA415009211USP9Yc.2845A>G (p.Lys949Glu)
n.2857A>G
c.2611A>G (p.Lys871Glu)
c.2860A>G (p.Lys954Glu)
Yg.12778224A>TCA415009214USP9Yc.2845A>T (p.Lys949Ter)
n.2857A>T
c.2611A>T (p.Lys871Ter)
c.2860A>T (p.Lys954Ter)
Yg.12778225A>CCA415009221USP9Yc.2846A>C (p.Lys949Thr)
n.2858A>C
c.2612A>C (p.Lys871Thr)
c.2861A>C (p.Lys954Thr)
Yg.12778225A>GCA415009225USP9Yc.2846A>G (p.Lys949Arg)
n.2858A>G
c.2612A>G (p.Lys871Arg)
c.2861A>G (p.Lys954Arg)
Yg.12778225A>TCA415009228USP9Yc.2846A>T (p.Lys949Met)
n.2858A>T
c.2612A>T (p.Lys871Met)
c.2861A>T (p.Lys954Met)
Yg.12778226G>ACA519893036USP9Yc.2847G>A (p.Lys949=)
n.2859G>A
c.2613G>A (p.Lys871=)
c.2862G>A (p.Lys954=)
Yg.12778226G>CCA415009229USP9Yc.2847G>C (p.Lys949Asn)
n.2859G>C
c.2613G>C (p.Lys871Asn)
c.2862G>C (p.Lys954Asn)
Yg.12778226G>TCA415009230USP9Yc.2847G>T (p.Lys949Asn)
n.2859G>T
c.2613G>T (p.Lys871Asn)
c.2862G>T (p.Lys954Asn)
Yg.12778227C>ACA415009231USP9Yc.2848C>A (p.Leu950Ile)
n.2860C>A
c.2614C>A (p.Leu872Ile)
c.2863C>A (p.Leu955Ile)
Yg.12778227C>GCA415009233USP9Yc.2848C>G (p.Leu950Val)
n.2860C>G
c.2614C>G (p.Leu872Val)
c.2863C>G (p.Leu955Val)
Yg.12778227C>TCA519893049USP9Yc.2848C>T (p.Leu950=)
n.2860C>T
c.2614C>T (p.Leu872=)
c.2863C>T (p.Leu955=)
Yg.12778228T>ACA415009236USP9Yc.2849T>A (p.Leu950Gln)
n.2861T>A
c.2615T>A (p.Leu872Gln)
c.2864T>A (p.Leu955Gln)
Yg.12778228T>CCA415009239USP9Yc.2849T>C (p.Leu950Pro)
n.2861T>C
c.2615T>C (p.Leu872Pro)
c.2864T>C (p.Leu955Pro)
Yg.12778228T>GCA415009241USP9Yc.2849T>G (p.Leu950Arg)
n.2861T>G
c.2615T>G (p.Leu872Arg)
c.2864T>G (p.Leu955Arg)
Yg.12778229A>CCA519893057USP9Yc.2850A>C (p.Leu950=)
n.2862A>C
c.2616A>C (p.Leu872=)
c.2865A>C (p.Leu955=)
Yg.12778229A>GCA519893054USP9Yc.2850A>G (p.Leu950=)
n.2862A>G
c.2616A>G (p.Leu872=)
c.2865A>G (p.Leu955=)
Yg.12778229A>TCA519893052USP9Yc.2850A>T (p.Leu950=)
n.2862A>T
c.2616A>T (p.Leu872=)
c.2865A>T (p.Leu955=)
Yg.12778230A>CCA415009245USP9Yc.2851A>C (p.Ile951Leu)
n.2863A>C
c.2617A>C (p.Ile873Leu)
c.2866A>C (p.Ile956Leu)
Yg.12778230A>GCA415009252USP9Yc.2851A>G (p.Ile951Val)
n.2863A>G
c.2617A>G (p.Ile873Val)
c.2866A>G (p.Ile956Val)
Yg.12778230A>TCA415009254USP9Yc.2851A>T (p.Ile951Phe)
n.2863A>T
c.2617A>T (p.Ile873Phe)
c.2866A>T (p.Ile956Phe)
Yg.12778231T>ACA415009263USP9Yc.2852T>A (p.Ile951Asn)
n.2864T>A
c.2618T>A (p.Ile873Asn)
c.2867T>A (p.Ile956Asn)
Yg.12778231T>CCA415009265USP9Yc.2852T>C (p.Ile951Thr)
n.2864T>C
c.2618T>C (p.Ile873Thr)
c.2867T>C (p.Ile956Thr)
Yg.12778231T>GCA415009268USP9Yc.2852T>G (p.Ile951Ser)
n.2864T>G
c.2618T>G (p.Ile873Ser)
c.2867T>G (p.Ile956Ser)
Yg.12778232T>ACA519893075USP9Yc.2853T>A (p.Ile951=)
n.2865T>A
c.2619T>A (p.Ile873=)
c.2868T>A (p.Ile956=)
Yg.12778232T>CCA519893079USP9Yc.2853T>C (p.Ile951=)
n.2865T>C
c.2619T>C (p.Ile873=)
c.2868T>C (p.Ile956=)
Yg.12778232T>GCA415009270USP9Yc.2853T>G (p.Ile951Met)
n.2865T>G
c.2619T>G (p.Ile873Met)
c.2868T>G (p.Ile956Met)
Yg.12778233G>ACA415009274USP9Yc.2854G>A (p.Gly952Arg)
n.2866G>A
c.2620G>A (p.Gly874Arg)
c.2869G>A (p.Gly957Arg)
Yg.12778233G>CCA415009271USP9Yc.2854G>C (p.Gly952Arg)
n.2866G>C
c.2620G>C (p.Gly874Arg)
c.2869G>C (p.Gly957Arg)
Yg.12778233G>TCA415009277USP9Yc.2854G>T (p.Gly952Ter)
n.2866G>T
c.2620G>T (p.Gly874Ter)
c.2869G>T (p.Gly957Ter)
Yg.12778234G>ACA10573202USP9Yc.2855G>A (p.Gly952Glu)
n.2867G>A
c.2621G>A (p.Gly874Glu)
c.2870G>A (p.Gly957Glu)
dbSNP ExAC gnomAD v2
Yg.12778234G>CCA415009290USP9Yc.2855G>C (p.Gly952Ala)
n.2867G>C
c.2621G>C (p.Gly874Ala)
c.2870G>C (p.Gly957Ala)
Yg.12778234G=CA2470557543USP9Yc.2855G= (p.Gly952=)
n.2867G=
c.2621G= (p.Gly874=)
c.2870G= (p.Gly957=)
Yg.12778234G>TCA415009294USP9Yc.2855G>T (p.Gly952Val)
n.2867G>T
c.2621G>T (p.Gly874Val)
c.2870G>T (p.Gly957Val)
Yg.12778235A>CCA519893090USP9Yc.2856A>C (p.Gly952=)
n.2868A>C
c.2622A>C (p.Gly874=)
c.2871A>C (p.Gly957=)
Yg.12778235A>GCA519893091USP9Yc.2856A>G (p.Gly952=)
n.2868A>G
c.2622A>G (p.Gly874=)
c.2871A>G (p.Gly957=)
Yg.12778235A>TCA519893094USP9Yc.2856A>T (p.Gly952=)
n.2868A>T
c.2622A>T (p.Gly874=)
c.2871A>T (p.Gly957=)
Yg.12778236C>ACA415009300USP9Yc.2857C>A (p.Gln953Lys)
n.2869C>A
c.2623C>A (p.Gln875Lys)
c.2872C>A (p.Gln958Lys)
dbSNP
Yg.12778236C>GCA415009306USP9Yc.2857C>G (p.Gln953Glu)
n.2869C>G
c.2623C>G (p.Gln875Glu)
c.2872C>G (p.Gln958Glu)
Yg.12778236C>TCA415009311USP9Yc.2857C>T (p.Gln953Ter)
n.2869C>T
c.2623C>T (p.Gln875Ter)
c.2872C>T (p.Gln958Ter)
Yg.12778237A>CCA415009315USP9Yc.2858A>C (p.Gln953Pro)
n.2870A>C
c.2624A>C (p.Gln875Pro)
c.2873A>C (p.Gln958Pro)
Yg.12778237A>GCA415009316USP9Yc.2858A>G (p.Gln953Arg)
n.2870A>G
c.2624A>G (p.Gln875Arg)
c.2873A>G (p.Gln958Arg)
Yg.12778237A>TCA415009320USP9Yc.2858A>T (p.Gln953Leu)
n.2870A>T
c.2624A>T (p.Gln875Leu)
c.2873A>T (p.Gln958Leu)
Yg.12778238A>CCA415009322USP9Yc.2859A>C (p.Gln953His)
n.2871A>C
c.2625A>C (p.Gln875His)
c.2874A>C (p.Gln958His)
Yg.12778238A>GCA519893120USP9Yc.2859A>G (p.Gln953=)
n.2871A>G
c.2625A>G (p.Gln875=)
c.2874A>G (p.Gln958=)
Yg.12778238A>TCA415009323USP9Yc.2859A>T (p.Gln953His)
n.2871A>T
c.2625A>T (p.Gln875His)
c.2874A>T (p.Gln958His)
Yg.12778239T>ACA415009327USP9Yc.2860T>A (p.Leu954Ile)
n.2872T>A
c.2626T>A (p.Leu876Ile)
c.2875T>A (p.Leu959Ile)
Yg.12778239T>CCA519893132USP9Yc.2860T>C (p.Leu954=)
n.2872T>C
c.2626T>C (p.Leu876=)
c.2875T>C (p.Leu959=)
Yg.12778239T>GCA415009324USP9Yc.2860T>G (p.Leu954Val)
n.2872T>G
c.2626T>G (p.Leu876Val)
c.2875T>G (p.Leu959Val)
Yg.12778240T>ACA415009339USP9Yc.2861T>A (p.Leu954Ter)
n.2873T>A
c.2627T>A (p.Leu876Ter)
c.2876T>A (p.Leu959Ter)
Yg.12778240T>CCA415009342USP9Yc.2861T>C (p.Leu954Ser)
n.2873T>C
c.2627T>C (p.Leu876Ser)
c.2876T>C (p.Leu959Ser)
Yg.12778240T>GCA415009357USP9Yc.2861T>G (p.Leu954Ter)
n.2873T>G
c.2627T>G (p.Leu876Ter)
c.2876T>G (p.Leu959Ter)
Yg.12778241A>CCA415009369USP9Yc.2862A>C (p.Leu954Phe)
n.2874A>C
c.2628A>C (p.Leu876Phe)
c.2877A>C (p.Leu959Phe)
Yg.12778241A>GCA519893163USP9Yc.2862A>G (p.Leu954=)
n.2874A>G
c.2628A>G (p.Leu876=)
c.2877A>G (p.Leu959=)
Yg.12778241A>TCA415009376USP9Yc.2862A>T (p.Leu954Phe)
n.2874A>T
c.2628A>T (p.Leu876Phe)
c.2877A>T (p.Leu959Phe)
Yg.12778242A>CCA415009383USP9Yc.2863A>C (p.Asn955His)
n.2875A>C
c.2629A>C (p.Asn877His)
c.2878A>C (p.Asn960His)
Yg.12778242A>GCA415009389USP9Yc.2863A>G (p.Asn955Asp)
n.2875A>G
c.2629A>G (p.Asn877Asp)
c.2878A>G (p.Asn960Asp)
Yg.12778242A>TCA415009392USP9Yc.2863A>T (p.Asn955Tyr)
n.2875A>T
c.2629A>T (p.Asn877Tyr)
c.2878A>T (p.Asn960Tyr)
Yg.12778243A>CCA415009396USP9Yc.2864A>C (p.Asn955Thr)
n.2876A>C
c.2630A>C (p.Asn877Thr)
c.2879A>C (p.Asn960Thr)
Yg.12778243A>GCA415009399USP9Yc.2864A>G (p.Asn955Ser)
n.2876A>G
c.2630A>G (p.Asn877Ser)
c.2879A>G (p.Asn960Ser)
Yg.12778243A>TCA415009404USP9Yc.2864A>T (p.Asn955Ile)
n.2876A>T
c.2630A>T (p.Asn877Ile)
c.2879A>T (p.Asn960Ile)
Yg.12778244C>ACA415009412USP9Yc.2865C>A (p.Asn955Lys)
n.2877C>A
c.2631C>A (p.Asn877Lys)
c.2880C>A (p.Asn960Lys)
Yg.12778244C>GCA415009410USP9Yc.2865C>G (p.Asn955Lys)
n.2877C>G
c.2631C>G (p.Asn877Lys)
c.2880C>G (p.Asn960Lys)
Yg.12778244C>TCA519893182USP9Yc.2865C>T (p.Asn955=)
n.2877C>T
c.2631C>T (p.Asn877=)
c.2880C>T (p.Asn960=)
Yg.12778245T>ACA415009415USP9Yc.2866T>A (p.Leu956Ile)
n.2878T>A
c.2632T>A (p.Leu878Ile)
c.2881T>A (p.Leu961Ile)
Yg.12778245T>CCA519893191USP9Yc.2866T>C (p.Leu956=)
n.2878T>C
c.2632T>C (p.Leu878=)
c.2881T>C (p.Leu961=)
Yg.12778245T>GCA415009417USP9Yc.2866T>G (p.Leu956Val)
n.2878T>G
c.2632T>G (p.Leu878Val)
c.2881T>G (p.Leu961Val)
Yg.12778246T>ACA415009426USP9Yc.2867T>A (p.Leu956Ter)
n.2879T>A
c.2633T>A (p.Leu878Ter)
c.2882T>A (p.Leu961Ter)
Yg.12778246T>CCA415009430USP9Yc.2867T>C (p.Leu956Ser)
n.2879T>C
c.2633T>C (p.Leu878Ser)
c.2882T>C (p.Leu961Ser)
Yg.12778246T>GCA415009434USP9Yc.2867T>G (p.Leu956Ter)
n.2879T>G
c.2633T>G (p.Leu878Ter)
c.2882T>G (p.Leu961Ter)
Yg.12778247A>CCA415009440USP9Yc.2868A>C (p.Leu956Phe)
n.2880A>C
c.2634A>C (p.Leu878Phe)
c.2883A>C (p.Leu961Phe)
Yg.12778247A>GCA519893219USP9Yc.2868A>G (p.Leu956=)
n.2880A>G
c.2634A>G (p.Leu878=)
c.2883A>G (p.Leu961=)
Yg.12778247A>TCA415009448USP9Yc.2868A>T (p.Leu956Phe)
n.2880A>T
c.2634A>T (p.Leu878Phe)
c.2883A>T (p.Leu961Phe)
Yg.12778248A>CCA415009453USP9Yc.2869A>C (p.Lys957Gln)
n.2881A>C
c.2635A>C (p.Lys879Gln)
c.2884A>C (p.Lys962Gln)
Yg.12778248A>GCA415009454USP9Yc.2869A>G (p.Lys957Glu)
n.2881A>G
c.2635A>G (p.Lys879Glu)
c.2884A>G (p.Lys962Glu)
Yg.12778248A>TCA415009455USP9Yc.2869A>T (p.Lys957Ter)
n.2881A>T
c.2635A>T (p.Lys879Ter)
c.2884A>T (p.Lys962Ter)
Yg.12778249A=CA2470557544USP9Yc.2870A= (p.Lys957=)
n.2882A=
c.2636A= (p.Lys879=)
c.2885A= (p.Lys962=)
Yg.12778249A>CCA415009458USP9Yc.2870A>C (p.Lys957Thr)
n.2882A>C
c.2636A>C (p.Lys879Thr)
c.2885A>C (p.Lys962Thr)
dbSNP gnomAD v2
Yg.12778249A>GCA415009463USP9Yc.2870A>G (p.Lys957Arg)
n.2882A>G
c.2636A>G (p.Lys879Arg)
c.2885A>G (p.Lys962Arg)
Yg.12778249A>TCA415009465USP9Yc.2870A>T (p.Lys957Ile)
n.2882A>T
c.2636A>T (p.Lys879Ile)
c.2885A>T (p.Lys962Ile)
Yg.12778250A>CCA415009469USP9Yc.2871A>C (p.Lys957Asn)
n.2883A>C
c.2637A>C (p.Lys879Asn)
c.2886A>C (p.Lys962Asn)
Yg.12778250A>GCA519893230USP9Yc.2871A>G (p.Lys957=)
n.2883A>G
c.2637A>G (p.Lys879=)
c.2886A>G (p.Lys962=)
Yg.12778250A>TCA415009477USP9Yc.2871A>T (p.Lys957Asn)
n.2883A>T
c.2637A>T (p.Lys879Asn)
c.2886A>T (p.Lys962Asn)
Yg.12778251G>ACA415009485USP9Yc.2872G>A (p.Asp958Asn)
n.2884G>A
c.2638G>A (p.Asp880Asn)
c.2887G>A (p.Asp963Asn)
dbSNP gnomAD v2
Yg.12778251G>CCA415009500USP9Yc.2872G>C (p.Asp958His)
n.2884G>C
c.2638G>C (p.Asp880His)
c.2887G>C (p.Asp963His)
Yg.12778251G=CA2470557545USP9Yc.2872G= (p.Asp958=)
n.2884G=
c.2638G= (p.Asp880=)
c.2887G= (p.Asp963=)
Yg.12778251G>TCA415009503USP9Yc.2872G>T (p.Asp958Tyr)
n.2884G>T
c.2638G>T (p.Asp880Tyr)
c.2887G>T (p.Asp963Tyr)
Yg.12778252A>CCA415009511USP9Yc.2873A>C (p.Asp958Ala)
n.2885A>C
c.2639A>C (p.Asp880Ala)
c.2888A>C (p.Asp963Ala)
Yg.12778252A>GCA415009516USP9Yc.2873A>G (p.Asp958Gly)
n.2885A>G
c.2639A>G (p.Asp880Gly)
c.2888A>G (p.Asp963Gly)
Yg.12778252A>TCA415009518USP9Yc.2873A>T (p.Asp958Val)
n.2885A>T
c.2639A>T (p.Asp880Val)
c.2888A>T (p.Asp963Val)
Yg.12778253T>ACA415009520USP9Yc.2874T>A (p.Asp958Glu)
n.2886T>A
c.2640T>A (p.Asp880Glu)
c.2889T>A (p.Asp963Glu)
Yg.12778253T>CCA519893276USP9Yc.2874T>C (p.Asp958=)
n.2886T>C
c.2640T>C (p.Asp880=)
c.2889T>C (p.Asp963=)
Yg.12778253T>GCA415009521USP9Yc.2874T>G (p.Asp958Glu)
n.2886T>G
c.2640T>G (p.Asp880Glu)
c.2889T>G (p.Asp963Glu)
Yg.12778254A>CCA415009522USP9Yc.2875A>C (p.Lys959Gln)
n.2887A>C
c.2641A>C (p.Lys881Gln)
c.2890A>C (p.Lys964Gln)
Yg.12778254A>GCA415009523USP9Yc.2875A>G (p.Lys959Glu)
n.2887A>G
c.2641A>G (p.Lys881Glu)
c.2890A>G (p.Lys964Glu)
Yg.12778254A>TCA415009524USP9Yc.2875A>T (p.Lys959Ter)
n.2887A>T
c.2641A>T (p.Lys881Ter)
c.2890A>T (p.Lys964Ter)
Yg.12778255A>CCA415009526USP9Yc.2876A>C (p.Lys959Thr)
n.2888A>C
c.2642A>C (p.Lys881Thr)
c.2891A>C (p.Lys964Thr)
Yg.12778255A>GCA415009527USP9Yc.2876A>G (p.Lys959Arg)
n.2888A>G
c.2642A>G (p.Lys881Arg)
c.2891A>G (p.Lys964Arg)
Yg.12778255A>TCA415009525USP9Yc.2876A>T (p.Lys959Ile)
n.2888A>T
c.2642A>T (p.Lys881Ile)
c.2891A>T (p.Lys964Ile)
Yg.12778256A>CCA415009528USP9Yc.2877A>C (p.Lys959Asn)
n.2889A>C
c.2643A>C (p.Lys881Asn)
c.2892A>C (p.Lys964Asn)
Yg.12778256A>GCA519893831USP9Yc.2877A>G (p.Lys959=)
n.2889A>G
c.2643A>G (p.Lys881=)
c.2892A>G (p.Lys964=)
gnomAD v3 gnomAD v4
Yg.12778256A>TCA415009529USP9Yc.2877A>T (p.Lys959Asn)
n.2889A>T
c.2643A>T (p.Lys881Asn)
c.2892A>T (p.Lys964Asn)
Yg.12778257T>ACA415009530USP9Yc.2878T>A (p.Ser960Thr)
n.2890T>A
c.2644T>A (p.Ser882Thr)
c.2893T>A (p.Ser965Thr)
Yg.12778257T>CCA415009531USP9Yc.2878T>C (p.Ser960Pro)
n.2890T>C
c.2644T>C (p.Ser882Pro)
c.2893T>C (p.Ser965Pro)
Yg.12778257T>GCA415009532USP9Yc.2878T>G (p.Ser960Ala)
n.2890T>G
c.2644T>G (p.Ser882Ala)
c.2893T>G (p.Ser965Ala)
Yg.12778258C>ACA415009534USP9Yc.2879C>A (p.Ser960Tyr)
n.2891C>A
c.2645C>A (p.Ser882Tyr)
c.2894C>A (p.Ser965Tyr)
Yg.12778258C>GCA415009538USP9Yc.2879C>G (p.Ser960Cys)
n.2891C>G
c.2645C>G (p.Ser882Cys)
c.2894C>G (p.Ser965Cys)
Yg.12778258C>TCA415009543USP9Yc.2879C>T (p.Ser960Phe)
n.2891C>T
c.2645C>T (p.Ser882Phe)
c.2894C>T (p.Ser965Phe)
Yg.12778259T>ACA519893864USP9Yc.2880T>A (p.Ser960=)
n.2892T>A
c.2646T>A (p.Ser882=)
c.2895T>A (p.Ser965=)
Yg.12778259T>CCA519893865USP9Yc.2880T>C (p.Ser960=)
n.2892T>C
c.2646T>C (p.Ser882=)
c.2895T>C (p.Ser965=)
Yg.12778259T>GCA519893866USP9Yc.2880T>G (p.Ser960=)
n.2892T>G
c.2646T>G (p.Ser882=)
c.2895T>G (p.Ser965=)
Yg.12778260G>ACA415009547USP9Yc.2880+1G>A (n.2880+1G>A)
n.2892+1G>A
c.2646+1G>A (n.2646+1G>A)
c.2895+1G>A (n.2895+1G>A)
Yg.12778260G>CCA415009548USP9Yc.2880+1G>C (n.2880+1G>C)
n.2892+1G>C
c.2646+1G>C (n.2646+1G>C)
c.2895+1G>C (n.2895+1G>C)
Yg.12778260G>TCA415009549USP9Yc.2880+1G>T (n.2880+1G>T)
n.2892+1G>T
c.2646+1G>T (n.2646+1G>T)
c.2895+1G>T (n.2895+1G>T)
Yg.12778261T>ACA415009573USP9Yc.2880+2T>A (n.2880+2T>A)
n.2892+2T>A
c.2646+2T>A (n.2646+2T>A)
c.2895+2T>A (n.2895+2T>A)
Yg.12778261T>CCA415009569USP9Yc.2880+2T>C (n.2880+2T>C)
n.2892+2T>C
c.2646+2T>C (n.2646+2T>C)
c.2895+2T>C (n.2895+2T>C)
Yg.12778261T>GCA415009554USP9Yc.2880+2T>G (n.2880+2T>G)
n.2892+2T>G
c.2646+2T>G (n.2646+2T>G)
c.2895+2T>G (n.2895+2T>G)
Yg.12778270A=CA2470557546USP9Yc.2880+11A= (n.2880+11A=)
n.2892+11A=
c.2646+11A= (n.2646+11A=)
c.2895+11A= (n.2895+11A=)
Yg.12778270A>GCA1139183232USP9Yc.2880+11A>G (n.2880+11A>G)
n.2892+11A>G
c.2646+11A>G (n.2646+11A>G)
c.2895+11A>G (n.2895+11A>G)
dbSNP gnomAD v3 gnomAD v4
Yg.12778271C>ACA2766241287USP9Yc.2880+12C>A (n.2880+12C>A)
n.2892+12C>A
c.2646+12C>A (n.2646+12C>A)
c.2895+12C>A (n.2895+12C>A)
Yg.12778273G>ACA2470557548USP9Yc.2880+14G>A (n.2880+14G>A)
n.2892+14G>A
c.2646+14G>A (n.2646+14G>A)
c.2895+14G>A (n.2895+14G>A)
dbSNP
Yg.12778273G=CA2470557547USP9Yc.2880+14G= (n.2880+14G=)
n.2892+14G=
c.2646+14G= (n.2646+14G=)
c.2895+14G= (n.2895+14G=)

Number of alleles fetched