Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
Yg.12778318_12778319insTCA2579747791USP9Yc.2880+59_2880+60insT (n.2880+59_2880+60insT)
n.2892+59_2892+60insT
c.2646+59_2646+60insT (n.2646+59_2646+60insT)
c.2895+59_2895+60insT (n.2895+59_2895+60insT)
Yg.12778320G>ACA2766241295USP9Yc.2880+61G>A (n.2880+61G>A)
n.2892+61G>A
c.2646+61G>A (n.2646+61G>A)
c.2895+61G>A (n.2895+61G>A)
Yg.12778321C>GCA1139183241USP9Yc.2880+62C>G (n.2880+62C>G)
n.2892+62C>G
c.2646+62C>G (n.2646+62C>G)
c.2895+62C>G (n.2895+62C>G)
gnomAD v3 gnomAD v4
Yg.12778321C>TCA1139183242USP9Yc.2880+62C>T (n.2880+62C>T)
n.2892+62C>T
c.2646+62C>T (n.2646+62C>T)
c.2895+62C>T (n.2895+62C>T)
gnomAD v3 gnomAD v4
Yg.12778323_12778324delCA2766241296USP9Yc.2880+64_2880+65del (n.2880+64_2880+65del)
n.2892+64_2892+65del
c.2646+64_2646+65del (n.2646+64_2646+65del)
c.2895+64_2895+65del (n.2895+64_2895+65del)
Yg.12778323T>CCA2766241297USP9Yc.2880+64T>C (n.2880+64T>C)
n.2892+64T>C
c.2646+64T>C (n.2646+64T>C)
c.2895+64T>C (n.2895+64T>C)
Yg.12778325A>GCA2766241298USP9Yc.2880+66A>G (n.2880+66A>G)
n.2892+66A>G
c.2646+66A>G (n.2646+66A>G)
c.2895+66A>G (n.2895+66A>G)
Yg.12778335A>TCA2766241299USP9Yc.2880+76A>T (n.2880+76A>T)
n.2892+76A>T
c.2646+76A>T (n.2646+76A>T)
c.2895+76A>T (n.2895+76A>T)
Yg.12778338A=CA2470557550USP9Yc.2880+79A= (n.2880+79A=)
n.2892+79A=
c.2646+79A= (n.2646+79A=)
c.2895+79A= (n.2895+79A=)
Yg.12778338A>GCA337719945USP9Yc.2880+79A>G (n.2880+79A>G)
n.2892+79A>G
c.2646+79A>G (n.2646+79A>G)
c.2895+79A>G (n.2895+79A>G)
dbSNP gnomAD v3 gnomAD v4
Yg.12778340C>TCA1139183257USP9Yc.2880+81C>T (n.2880+81C>T)
n.2892+81C>T
c.2646+81C>T (n.2646+81C>T)
c.2895+81C>T (n.2895+81C>T)
gnomAD v3 gnomAD v4
Yg.12778341G>ACA2766241300USP9Yc.2880+82G>A (n.2880+82G>A)
n.2892+82G>A
c.2646+82G>A (n.2646+82G>A)
c.2895+82G>A (n.2895+82G>A)

Number of alleles fetched