Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
Yg.12778283_12778284delCA2766241288USP9Yc.2880+24_2880+25del (n.2880+24_2880+25del)
n.2892+24_2892+25del
c.2646+24_2646+25del (n.2646+24_2646+25del)
c.2895+24_2895+25del (n.2895+24_2895+25del)
Yg.12778285G>ACA10573203USP9Yc.2880+26G>A (n.2880+26G>A)
n.2892+26G>A
c.2646+26G>A (n.2646+26G>A)
c.2895+26G>A (n.2895+26G>A)
dbSNP ExAC gnomAD v2
Yg.12778285G=CA2470557549USP9Yc.2880+26G= (n.2880+26G=)
n.2892+26G=
c.2646+26G= (n.2646+26G=)
c.2895+26G= (n.2895+26G=)
Yg.12778286T>CCA2766241289USP9Yc.2880+27T>C (n.2880+27T>C)
n.2892+27T>C
c.2646+27T>C (n.2646+27T>C)
c.2895+27T>C (n.2895+27T>C)
Yg.12778288A>GCA2766241290USP9Yc.2880+29A>G (n.2880+29A>G)
n.2892+29A>G
c.2646+29A>G (n.2646+29A>G)
c.2895+29A>G (n.2895+29A>G)
Yg.12778294C>TCA2766241291USP9Yc.2880+35C>T (n.2880+35C>T)
n.2892+35C>T
c.2646+35C>T (n.2646+35C>T)
c.2895+35C>T (n.2895+35C>T)
Yg.12778298A>CCA1139183237USP9Yc.2880+39A>C (n.2880+39A>C)
n.2892+39A>C
c.2646+39A>C (n.2646+39A>C)
c.2895+39A>C (n.2895+39A>C)
gnomAD v3 gnomAD v4
Yg.12778306G>ACA1139183238USP9Yc.2880+47G>A (n.2880+47G>A)
n.2892+47G>A
c.2646+47G>A (n.2646+47G>A)
c.2895+47G>A (n.2895+47G>A)
gnomAD v3 gnomAD v4
Yg.12778307G>ACA2766241292USP9Yc.2880+48G>A (n.2880+48G>A)
n.2892+48G>A
c.2646+48G>A (n.2646+48G>A)
c.2895+48G>A (n.2895+48G>A)
Yg.12778307G>CCA2766241293USP9Yc.2880+48G>C (n.2880+48G>C)
n.2892+48G>C
c.2646+48G>C (n.2646+48G>C)
c.2895+48G>C (n.2895+48G>C)
Yg.12778310delCA2579747785USP9Yc.2880+51del (n.2880+51del)
n.2892+51del
c.2646+51del (n.2646+51del)
c.2895+51del (n.2895+51del)
Yg.12778310A>GCA2824885766USP9Yc.2880+51A>G (n.2880+51A>G)
n.2892+51A>G
c.2646+51A>G (n.2646+51A>G)
c.2895+51A>G (n.2895+51A>G)
Yg.12778311T>CCA2579747786USP9Yc.2880+52T>C (n.2880+52T>C)
n.2892+52T>C
c.2646+52T>C (n.2646+52T>C)
c.2895+52T>C (n.2895+52T>C)
Yg.12778312A>GCA2540702855USP9Yc.2880+53A>G (n.2880+53A>G)
n.2892+53A>G
c.2646+53A>G (n.2646+53A>G)
c.2895+53A>G (n.2895+53A>G)
Yg.12778313T>CCA2579747788USP9Yc.2880+54T>C (n.2880+54T>C)
n.2892+54T>C
c.2646+54T>C (n.2646+54T>C)
c.2895+54T>C (n.2895+54T>C)
Yg.12778314delCA2579747787USP9Yc.2880+55del (n.2880+55del)
n.2892+55del
c.2646+55del (n.2646+55del)
c.2895+55del (n.2895+55del)
Yg.12778317_12778320delCA2766241294USP9Yc.2880+58_2880+61del (n.2880+58_2880+61del)
n.2892+58_2892+61del
c.2646+58_2646+61del (n.2646+58_2646+61del)
c.2895+58_2895+61del (n.2895+58_2895+61del)
Yg.12778316G>ACA2579747789USP9Yc.2880+57G>A (n.2880+57G>A)
n.2892+57G>A
c.2646+57G>A (n.2646+57G>A)
c.2895+57G>A (n.2895+57G>A)
Yg.12778316G>TCA2579747790USP9Yc.2880+57G>T (n.2880+57G>T)
n.2892+57G>T
c.2646+57G>T (n.2646+57G>T)
c.2895+57G>T (n.2895+57G>T)

Number of alleles fetched