Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.76864201C>ACA371531437ZFHX4c.10487C>A (p.Ser3496Tyr)
c.10409C>A (p.Ser3470Tyr)
c.10370C>A (p.Ser3457Tyr)
c.10292C>A (p.Ser3431Tyr)
8g.76864201C=CA1795296515ZFHX4c.10487C= (p.Ser3496=)
c.10409C= (p.Ser3470=)
c.10370C= (p.Ser3457=)
c.10292C= (p.Ser3431=)
8g.76864201C>GCA179375819ZFHX4c.10487C>G (p.Ser3496Cys)
c.10409C>G (p.Ser3470Cys)
c.10370C>G (p.Ser3457Cys)
c.10292C>G (p.Ser3431Cys)
dbSNP
8g.76864201C>TCA179375823ZFHX4c.10487C>T (p.Ser3496Phe)
c.10409C>T (p.Ser3470Phe)
c.10370C>T (p.Ser3457Phe)
c.10292C>T (p.Ser3431Phe)
dbSNP
8g.76864202C>ACA461770683ZFHX4c.10488C>A (p.Ser3496=)
c.10410C>A (p.Ser3470=)
c.10371C>A (p.Ser3457=)
c.10293C>A (p.Ser3431=)
gnomAD v4
8g.76864202C>GCA461770684ZFHX4c.10488C>G (p.Ser3496=)
c.10410C>G (p.Ser3470=)
c.10371C>G (p.Ser3457=)
c.10293C>G (p.Ser3431=)
8g.76864202C>TCA461770685ZFHX4c.10488C>T (p.Ser3496=)
c.10410C>T (p.Ser3470=)
c.10371C>T (p.Ser3457=)
c.10293C>T (p.Ser3431=)
8g.76864203C>ACA371531438ZFHX4c.10489C>A (p.Pro3497Thr)
c.10411C>A (p.Pro3471Thr)
c.10372C>A (p.Pro3458Thr)
c.10294C>A (p.Pro3432Thr)
8g.76864203C=CA1795296516ZFHX4c.10489C= (p.Pro3497=)
c.10411C= (p.Pro3471=)
c.10372C= (p.Pro3458=)
c.10294C= (p.Pro3432=)
8g.76864203C>GCA371531439ZFHX4c.10489C>G (p.Pro3497Ala)
c.10411C>G (p.Pro3471Ala)
c.10372C>G (p.Pro3458Ala)
c.10294C>G (p.Pro3432Ala)
8g.76864203C>TCA371531440ZFHX4c.10489C>T (p.Pro3497Ser)
c.10411C>T (p.Pro3471Ser)
c.10372C>T (p.Pro3458Ser)
c.10294C>T (p.Pro3432Ser)
dbSNP COSMIC COSMIC
8g.76864204C>ACA371531442ZFHX4c.10490C>A (p.Pro3497His)
c.10412C>A (p.Pro3471His)
c.10373C>A (p.Pro3458His)
c.10295C>A (p.Pro3432His)
8g.76864204C=CA1795296517ZFHX4c.10490C= (p.Pro3497=)
c.10412C= (p.Pro3471=)
c.10373C= (p.Pro3458=)
c.10295C= (p.Pro3432=)
8g.76864204C>GCA371531441ZFHX4c.10490C>G (p.Pro3497Arg)
c.10412C>G (p.Pro3471Arg)
c.10373C>G (p.Pro3458Arg)
c.10295C>G (p.Pro3432Arg)
8g.76864204C>TCA179375824ZFHX4c.10490C>T (p.Pro3497Leu)
c.10412C>T (p.Pro3471Leu)
c.10373C>T (p.Pro3458Leu)
c.10295C>T (p.Pro3432Leu)
dbSNP gnomAD v3 gnomAD v4
8g.76864205_76864209delCA645557356ZFHX4c.10491_10495del (p.Asn3498Ter)
c.10413_10417del (p.Asn3472Ter)
c.10374_10378del (p.Asn3459Ter)
c.10296_10300del (p.Asn3433Ter)
COSMIC COSMIC
8g.76864205T>ACA461770686ZFHX4c.10491T>A (p.Pro3497=)
c.10413T>A (p.Pro3471=)
c.10374T>A (p.Pro3458=)
c.10296T>A (p.Pro3432=)
8g.76864205T>CCA461770687ZFHX4c.10491T>C (p.Pro3497=)
c.10413T>C (p.Pro3471=)
c.10374T>C (p.Pro3458=)
c.10296T>C (p.Pro3432=)
8g.76864205T>GCA461770688ZFHX4c.10491T>G (p.Pro3497=)
c.10413T>G (p.Pro3471=)
c.10374T>G (p.Pro3458=)
c.10296T>G (p.Pro3432=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.76864205T=CA1795296518ZFHX4c.10491T= (p.Pro3497=)
c.10413T= (p.Pro3471=)
c.10374T= (p.Pro3458=)
c.10296T= (p.Pro3432=)
8g.76864206A>CCA371531443ZFHX4c.10492A>C (p.Asn3498His)
c.10414A>C (p.Asn3472His)
c.10375A>C (p.Asn3459His)
c.10297A>C (p.Asn3433His)
8g.76864206A>GCA371531444ZFHX4c.10492A>G (p.Asn3498Asp)
c.10414A>G (p.Asn3472Asp)
c.10375A>G (p.Asn3459Asp)
c.10297A>G (p.Asn3433Asp)
8g.76864206A>TCA371531445ZFHX4c.10492A>T (p.Asn3498Tyr)
c.10414A>T (p.Asn3472Tyr)
c.10375A>T (p.Asn3459Tyr)
c.10297A>T (p.Asn3433Tyr)
8g.76864207A>CCA371531446ZFHX4c.10493A>C (p.Asn3498Thr)
c.10415A>C (p.Asn3472Thr)
c.10376A>C (p.Asn3459Thr)
c.10298A>C (p.Asn3433Thr)
8g.76864207A>GCA371531447ZFHX4c.10493A>G (p.Asn3498Ser)
c.10415A>G (p.Asn3472Ser)
c.10376A>G (p.Asn3459Ser)
c.10298A>G (p.Asn3433Ser)
8g.76864207A>TCA371531448ZFHX4c.10493A>T (p.Asn3498Ile)
c.10415A>T (p.Asn3472Ile)
c.10376A>T (p.Asn3459Ile)
c.10298A>T (p.Asn3433Ile)
8g.76864208T>ACA371531449ZFHX4c.10494T>A (p.Asn3498Lys)
c.10416T>A (p.Asn3472Lys)
c.10377T>A (p.Asn3459Lys)
c.10299T>A (p.Asn3433Lys)
dbSNP gnomAD v2 gnomAD v4
8g.76864208T>CCA461770689ZFHX4c.10494T>C (p.Asn3498=)
c.10416T>C (p.Asn3472=)
c.10377T>C (p.Asn3459=)
c.10299T>C (p.Asn3433=)
dbSNP gnomAD v2
8g.76864208T>GCA371531450ZFHX4c.10494T>G (p.Asn3498Lys)
c.10416T>G (p.Asn3472Lys)
c.10377T>G (p.Asn3459Lys)
c.10299T>G (p.Asn3433Lys)
8g.76864208T=CA1795296519ZFHX4c.10494T= (p.Asn3498=)
c.10416T= (p.Asn3472=)
c.10377T= (p.Asn3459=)
c.10299T= (p.Asn3433=)
8g.76864209C>ACA371531451ZFHX4c.10495C>A (p.Pro3499Thr)
c.10417C>A (p.Pro3473Thr)
c.10378C>A (p.Pro3460Thr)
c.10300C>A (p.Pro3434Thr)
8g.76864209C>GCA371531452ZFHX4c.10495C>G (p.Pro3499Ala)
c.10417C>G (p.Pro3473Ala)
c.10378C>G (p.Pro3460Ala)
c.10300C>G (p.Pro3434Ala)
8g.76864209C>TCA371531453ZFHX4c.10495C>T (p.Pro3499Ser)
c.10417C>T (p.Pro3473Ser)
c.10378C>T (p.Pro3460Ser)
c.10300C>T (p.Pro3434Ser)
gnomAD v4
8g.76864210C>ACA371531455ZFHX4c.10496C>A (p.Pro3499His)
c.10418C>A (p.Pro3473His)
c.10379C>A (p.Pro3460His)
c.10301C>A (p.Pro3434His)
8g.76864210C=CA1795296520ZFHX4c.10496C= (p.Pro3499=)
c.10418C= (p.Pro3473=)
c.10379C= (p.Pro3460=)
c.10301C= (p.Pro3434=)
8g.76864210C>GCA371531456ZFHX4c.10496C>G (p.Pro3499Arg)
c.10418C>G (p.Pro3473Arg)
c.10379C>G (p.Pro3460Arg)
c.10301C>G (p.Pro3434Arg)
8g.76864210C>TCA371531454ZFHX4c.10496C>T (p.Pro3499Leu)
c.10418C>T (p.Pro3473Leu)
c.10379C>T (p.Pro3460Leu)
c.10301C>T (p.Pro3434Leu)
dbSNP
8g.76864211T>ACA461770690ZFHX4c.10497T>A (p.Pro3499=)
c.10419T>A (p.Pro3473=)
c.10380T>A (p.Pro3460=)
c.10302T>A (p.Pro3434=)
8g.76864211T>CCA461770691ZFHX4c.10497T>C (p.Pro3499=)
c.10419T>C (p.Pro3473=)
c.10380T>C (p.Pro3460=)
c.10302T>C (p.Pro3434=)
8g.76864211T>GCA461770692ZFHX4c.10497T>G (p.Pro3499=)
c.10419T>G (p.Pro3473=)
c.10380T>G (p.Pro3460=)
c.10302T>G (p.Pro3434=)
8g.76864212A=CA1795296521ZFHX4c.10498A= (p.Asn3500=)
c.10420A= (p.Asn3474=)
c.10381A= (p.Asn3461=)
c.10303A= (p.Asn3435=)
8g.76864212A>CCA371531457ZFHX4c.10498A>C (p.Asn3500His)
c.10420A>C (p.Asn3474His)
c.10381A>C (p.Asn3461His)
c.10303A>C (p.Asn3435His)
8g.76864212A>GCA371531458ZFHX4c.10498A>G (p.Asn3500Asp)
c.10420A>G (p.Asn3474Asp)
c.10381A>G (p.Asn3461Asp)
c.10303A>G (p.Asn3435Asp)
dbSNP
8g.76864212A>TCA371531459ZFHX4c.10498A>T (p.Asn3500Tyr)
c.10420A>T (p.Asn3474Tyr)
c.10381A>T (p.Asn3461Tyr)
c.10303A>T (p.Asn3435Tyr)
8g.76864213A>CCA371531460ZFHX4c.10499A>C (p.Asn3500Thr)
c.10421A>C (p.Asn3474Thr)
c.10382A>C (p.Asn3461Thr)
c.10304A>C (p.Asn3435Thr)
8g.76864213A>GCA371531461ZFHX4c.10499A>G (p.Asn3500Ser)
c.10421A>G (p.Asn3474Ser)
c.10382A>G (p.Asn3461Ser)
c.10304A>G (p.Asn3435Ser)
8g.76864213A>TCA371531462ZFHX4c.10499A>T (p.Asn3500Ile)
c.10421A>T (p.Asn3474Ile)
c.10382A>T (p.Asn3461Ile)
c.10304A>T (p.Asn3435Ile)
8g.76864214C>ACA371531464ZFHX4c.10500C>A (p.Asn3500Lys)
c.10422C>A (p.Asn3474Lys)
c.10383C>A (p.Asn3461Lys)
c.10305C>A (p.Asn3435Lys)
8g.76864214C>GCA371531463ZFHX4c.10500C>G (p.Asn3500Lys)
c.10422C>G (p.Asn3474Lys)
c.10383C>G (p.Asn3461Lys)
c.10305C>G (p.Asn3435Lys)
8g.76864214C>TCA461770696ZFHX4c.10500C>T (p.Asn3500=)
c.10422C>T (p.Asn3474=)
c.10383C>T (p.Asn3461=)
c.10305C>T (p.Asn3435=)
8g.76864215A>CCA371531465ZFHX4c.10501A>C (p.Thr3501Pro)
c.10423A>C (p.Thr3475Pro)
c.10384A>C (p.Thr3462Pro)
c.10306A>C (p.Thr3436Pro)
8g.76864215A>GCA371531466ZFHX4c.10501A>G (p.Thr3501Ala)
c.10423A>G (p.Thr3475Ala)
c.10384A>G (p.Thr3462Ala)
c.10306A>G (p.Thr3436Ala)
8g.76864215A>TCA371531467ZFHX4c.10501A>T (p.Thr3501Ser)
c.10423A>T (p.Thr3475Ser)
c.10384A>T (p.Thr3462Ser)
c.10306A>T (p.Thr3436Ser)
8g.76864216C>ACA179375825ZFHX4c.10502C>A (p.Thr3501Asn)
c.10424C>A (p.Thr3475Asn)
c.10385C>A (p.Thr3462Asn)
c.10307C>A (p.Thr3436Asn)
dbSNP gnomAD v3 gnomAD v4
8g.76864216C=CA1795296522ZFHX4c.10502C= (p.Thr3501=)
c.10424C= (p.Thr3475=)
c.10385C= (p.Thr3462=)
c.10307C= (p.Thr3436=)
8g.76864216C>GCA371531468ZFHX4c.10502C>G (p.Thr3501Ser)
c.10424C>G (p.Thr3475Ser)
c.10385C>G (p.Thr3462Ser)
c.10307C>G (p.Thr3436Ser)
8g.76864216C>TCA371531469ZFHX4c.10502C>T (p.Thr3501Ile)
c.10424C>T (p.Thr3475Ile)
c.10385C>T (p.Thr3462Ile)
c.10307C>T (p.Thr3436Ile)
8g.76864217C>ACA461770697ZFHX4c.10503C>A (p.Thr3501=)
c.10425C>A (p.Thr3475=)
c.10386C>A (p.Thr3462=)
c.10308C>A (p.Thr3436=)
8g.76864217C=CA1795296523ZFHX4c.10503C= (p.Thr3501=)
c.10425C= (p.Thr3475=)
c.10386C= (p.Thr3462=)
c.10308C= (p.Thr3436=)
8g.76864217C>GCA461770698ZFHX4c.10503C>G (p.Thr3501=)
c.10425C>G (p.Thr3475=)
c.10386C>G (p.Thr3462=)
c.10308C>G (p.Thr3436=)
8g.76864217C>TCA461770699ZFHX4c.10503C>T (p.Thr3501=)
c.10425C>T (p.Thr3475=)
c.10386C>T (p.Thr3462=)
c.10308C>T (p.Thr3436=)
dbSNP
8g.76864218A>CCA371531470ZFHX4c.10504A>C (p.Thr3502Pro)
c.10426A>C (p.Thr3476Pro)
c.10387A>C (p.Thr3463Pro)
c.10309A>C (p.Thr3437Pro)
8g.76864218A>GCA371531472ZFHX4c.10504A>G (p.Thr3502Ala)
c.10426A>G (p.Thr3476Ala)
c.10387A>G (p.Thr3463Ala)
c.10309A>G (p.Thr3437Ala)
8g.76864218A>TCA371531471ZFHX4c.10504A>T (p.Thr3502Ser)
c.10426A>T (p.Thr3476Ser)
c.10387A>T (p.Thr3463Ser)
c.10309A>T (p.Thr3437Ser)
8g.76864219C>ACA371531473ZFHX4c.10505C>A (p.Thr3502Lys)
c.10427C>A (p.Thr3476Lys)
c.10388C>A (p.Thr3463Lys)
c.10310C>A (p.Thr3437Lys)
8g.76864219C>GCA371531474ZFHX4c.10505C>G (p.Thr3502Arg)
c.10427C>G (p.Thr3476Arg)
c.10388C>G (p.Thr3463Arg)
c.10310C>G (p.Thr3437Arg)
8g.76864219C>TCA371531475ZFHX4c.10505C>T (p.Thr3502Ile)
c.10427C>T (p.Thr3476Ile)
c.10388C>T (p.Thr3463Ile)
c.10310C>T (p.Thr3437Ile)
gnomAD v4
8g.76864220A>CCA461770703ZFHX4c.10506A>C (p.Thr3502=)
c.10428A>C (p.Thr3476=)
c.10389A>C (p.Thr3463=)
c.10311A>C (p.Thr3437=)
8g.76864220A>GCA461770701ZFHX4c.10506A>G (p.Thr3502=)
c.10428A>G (p.Thr3476=)
c.10389A>G (p.Thr3463=)
c.10311A>G (p.Thr3437=)
gnomAD v4
8g.76864220A>TCA461770702ZFHX4c.10506A>T (p.Thr3502=)
c.10428A>T (p.Thr3476=)
c.10389A>T (p.Thr3463=)
c.10311A>T (p.Thr3437=)
8g.76864221T>ACA371531476ZFHX4c.10507T>A (p.Ser3503Thr)
c.10429T>A (p.Ser3477Thr)
c.10390T>A (p.Ser3464Thr)
c.10312T>A (p.Ser3438Thr)
8g.76864221T>CCA371531477ZFHX4c.10507T>C (p.Ser3503Pro)
c.10429T>C (p.Ser3477Pro)
c.10390T>C (p.Ser3464Pro)
c.10312T>C (p.Ser3438Pro)
8g.76864221T>GCA371531478ZFHX4c.10507T>G (p.Ser3503Ala)
c.10429T>G (p.Ser3477Ala)
c.10390T>G (p.Ser3464Ala)
c.10312T>G (p.Ser3438Ala)
8g.76864222C>ACA371531479ZFHX4c.10508C>A (p.Ser3503Tyr)
c.10430C>A (p.Ser3477Tyr)
c.10391C>A (p.Ser3464Tyr)
c.10313C>A (p.Ser3438Tyr)
8g.76864222C>GCA371531480ZFHX4c.10508C>G (p.Ser3503Cys)
c.10430C>G (p.Ser3477Cys)
c.10391C>G (p.Ser3464Cys)
c.10313C>G (p.Ser3438Cys)
8g.76864222C>TCA371531481ZFHX4c.10508C>T (p.Ser3503Phe)
c.10430C>T (p.Ser3477Phe)
c.10391C>T (p.Ser3464Phe)
c.10313C>T (p.Ser3438Phe)
8g.76864223T>ACA461770705ZFHX4c.10509T>A (p.Ser3503=)
c.10431T>A (p.Ser3477=)
c.10392T>A (p.Ser3464=)
c.10314T>A (p.Ser3438=)
8g.76864223T>CCA461770707ZFHX4c.10509T>C (p.Ser3503=)
c.10431T>C (p.Ser3477=)
c.10392T>C (p.Ser3464=)
c.10314T>C (p.Ser3438=)
8g.76864223T>GCA461770708ZFHX4c.10509T>G (p.Ser3503=)
c.10431T>G (p.Ser3477=)
c.10392T>G (p.Ser3464=)
c.10314T>G (p.Ser3438=)
8g.76864224A>CCA371531482ZFHX4c.10510A>C (p.Thr3504Pro)
c.10432A>C (p.Thr3478Pro)
c.10393A>C (p.Thr3465Pro)
c.10315A>C (p.Thr3439Pro)
8g.76864224A>GCA371531483ZFHX4c.10510A>G (p.Thr3504Ala)
c.10432A>G (p.Thr3478Ala)
c.10393A>G (p.Thr3465Ala)
c.10315A>G (p.Thr3439Ala)
8g.76864224A>TCA371531484ZFHX4c.10510A>T (p.Thr3504Ser)
c.10432A>T (p.Thr3478Ser)
c.10393A>T (p.Thr3465Ser)
c.10315A>T (p.Thr3439Ser)
8g.76864225C>ACA371531486ZFHX4c.10511C>A (p.Thr3504Asn)
c.10433C>A (p.Thr3478Asn)
c.10394C>A (p.Thr3465Asn)
c.10316C>A (p.Thr3439Asn)
8g.76864225C>GCA371531487ZFHX4c.10511C>G (p.Thr3504Ser)
c.10433C>G (p.Thr3478Ser)
c.10394C>G (p.Thr3465Ser)
c.10316C>G (p.Thr3439Ser)
8g.76864225C>TCA371531485ZFHX4c.10511C>T (p.Thr3504Ile)
c.10433C>T (p.Thr3478Ile)
c.10394C>T (p.Thr3465Ile)
c.10316C>T (p.Thr3439Ile)
8g.76864226C>ACA461770711ZFHX4c.10512C>A (p.Thr3504=)
c.10434C>A (p.Thr3478=)
c.10395C>A (p.Thr3465=)
c.10317C>A (p.Thr3439=)
8g.76864226C=CA1795296524ZFHX4c.10512C= (p.Thr3504=)
c.10434C= (p.Thr3478=)
c.10395C= (p.Thr3465=)
c.10317C= (p.Thr3439=)
8g.76864226C>GCA461770712ZFHX4c.10512C>G (p.Thr3504=)
c.10434C>G (p.Thr3478=)
c.10395C>G (p.Thr3465=)
c.10317C>G (p.Thr3439=)
8g.76864226C>TCA461770713ZFHX4c.10512C>T (p.Thr3504=)
c.10434C>T (p.Thr3478=)
c.10395C>T (p.Thr3465=)
c.10317C>T (p.Thr3439=)
dbSNP
8g.76864227T>ACA371531489ZFHX4c.10513T>A (p.Ser3505Thr)
c.10435T>A (p.Ser3479Thr)
c.10396T>A (p.Ser3466Thr)
c.10318T>A (p.Ser3440Thr)
8g.76864227T>CCA371531488ZFHX4c.10513T>C (p.Ser3505Pro)
c.10435T>C (p.Ser3479Pro)
c.10396T>C (p.Ser3466Pro)
c.10318T>C (p.Ser3440Pro)
8g.76864227T>GCA371531490ZFHX4c.10513T>G (p.Ser3505Ala)
c.10435T>G (p.Ser3479Ala)
c.10396T>G (p.Ser3466Ala)
c.10318T>G (p.Ser3440Ala)
8g.76864228C>ACA371531491ZFHX4c.10514C>A (p.Ser3505Ter)
c.10436C>A (p.Ser3479Ter)
c.10397C>A (p.Ser3466Ter)
c.10319C>A (p.Ser3440Ter)
8g.76864228C=CA1795296525ZFHX4c.10514C= (p.Ser3505=)
c.10436C= (p.Ser3479=)
c.10397C= (p.Ser3466=)
c.10319C= (p.Ser3440=)
8g.76864228C>GCA371531493ZFHX4c.10514C>G (p.Ser3505Trp)
c.10436C>G (p.Ser3479Trp)
c.10397C>G (p.Ser3466Trp)
c.10319C>G (p.Ser3440Trp)
8g.76864228C>TCA371531492ZFHX4c.10514C>T (p.Ser3505Leu)
c.10436C>T (p.Ser3479Leu)
c.10397C>T (p.Ser3466Leu)
c.10319C>T (p.Ser3440Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.76864229G>ACA461770714ZFHX4c.10515G>A (p.Ser3505=)
c.10437G>A (p.Ser3479=)
c.10398G>A (p.Ser3466=)
c.10320G>A (p.Ser3440=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.76864229G>CCA461770715ZFHX4c.10515G>C (p.Ser3505=)
c.10437G>C (p.Ser3479=)
c.10398G>C (p.Ser3466=)
c.10320G>C (p.Ser3440=)
dbSNP gnomAD v4 COSMIC COSMIC
8g.76864229G=CA1795296526ZFHX4c.10515G= (p.Ser3505=)
c.10437G= (p.Ser3479=)
c.10398G= (p.Ser3466=)
c.10320G= (p.Ser3440=)
8g.76864229G>TCA179375830ZFHX4c.10515G>T (p.Ser3505=)
c.10437G>T (p.Ser3479=)
c.10398G>T (p.Ser3466=)
c.10320G>T (p.Ser3440=)
dbSNP gnomAD v4
8g.76864230C>ACA4788551ZFHX4c.10516C>A (p.Gln3506Lys)
c.10438C>A (p.Gln3480Lys)
c.10399C>A (p.Gln3467Lys)
c.10321C>A (p.Gln3441Lys)
dbSNP ExAC gnomAD v4
8g.76864230C=CA1795296527ZFHX4c.10516C= (p.Gln3506=)
c.10438C= (p.Gln3480=)
c.10399C= (p.Gln3467=)
c.10321C= (p.Gln3441=)
8g.76864230C>GCA371531494ZFHX4c.10516C>G (p.Gln3506Glu)
c.10438C>G (p.Gln3480Glu)
c.10399C>G (p.Gln3467Glu)
c.10321C>G (p.Gln3441Glu)
8g.76864230C>TCA371531495ZFHX4c.10516C>T (p.Gln3506Ter)
c.10438C>T (p.Gln3480Ter)
c.10399C>T (p.Gln3467Ter)
c.10321C>T (p.Gln3441Ter)
8g.76864230_76864232delinsCAGCA1795296528ZFHX4c.10516_10518delinsCAG (p.Gln3506=)
c.10438_10440delinsCAG (p.Gln3480=)
c.10399_10401delinsCAG (p.Gln3467=)
c.10321_10323delinsCAG (p.Gln3441=)
8g.76864231A=CA1795296529ZFHX4c.10517A= (p.Gln3506=)
c.10439A= (p.Gln3480=)
c.10400A= (p.Gln3467=)
c.10322A= (p.Gln3441=)
8g.76864231A>CCA4788552ZFHX4c.10517A>C (p.Gln3506Pro)
c.10439A>C (p.Gln3480Pro)
c.10400A>C (p.Gln3467Pro)
c.10322A>C (p.Gln3441Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.76864231A>GCA371531496ZFHX4c.10517A>G (p.Gln3506Arg)
c.10439A>G (p.Gln3480Arg)
c.10400A>G (p.Gln3467Arg)
c.10322A>G (p.Gln3441Arg)
8g.76864231A>TCA371531497ZFHX4c.10517A>T (p.Gln3506Leu)
c.10439A>T (p.Gln3480Leu)
c.10400A>T (p.Gln3467Leu)
c.10322A>T (p.Gln3441Leu)
8g.76864231_76864232delCA1795296530ZFHX4c.10517_10518del (p.Gln3506LeufsTer6)
c.10439_10440del (p.Gln3480LeufsTer6)
c.10400_10401del (p.Gln3467LeufsTer6)
c.10322_10323del (p.Gln3441LeufsTer6)
dbSNP
8g.76864232G>ACA461770716ZFHX4c.10518G>A (p.Gln3506=)
c.10440G>A (p.Gln3480=)
c.10401G>A (p.Gln3467=)
c.10323G>A (p.Gln3441=)
COSMIC COSMIC
8g.76864232G>CCA371531498ZFHX4c.10518G>C (p.Gln3506His)
c.10440G>C (p.Gln3480His)
c.10401G>C (p.Gln3467His)
c.10323G>C (p.Gln3441His)
8g.76864232G>TCA371531499ZFHX4c.10518G>T (p.Gln3506His)
c.10440G>T (p.Gln3480His)
c.10401G>T (p.Gln3467His)
c.10323G>T (p.Gln3441His)
8g.76864233T>ACA371531500ZFHX4c.10519T>A (p.Ser3507Thr)
c.10441T>A (p.Ser3481Thr)
c.10402T>A (p.Ser3468Thr)
c.10324T>A (p.Ser3442Thr)
8g.76864233T>CCA371531501ZFHX4c.10519T>C (p.Ser3507Pro)
c.10441T>C (p.Ser3481Pro)
c.10402T>C (p.Ser3468Pro)
c.10324T>C (p.Ser3442Pro)
8g.76864233T>GCA371531502ZFHX4c.10519T>G (p.Ser3507Ala)
c.10441T>G (p.Ser3481Ala)
c.10402T>G (p.Ser3468Ala)
c.10324T>G (p.Ser3442Ala)
8g.76864234C>ACA371531505ZFHX4c.10520C>A (p.Ser3507Tyr)
c.10442C>A (p.Ser3481Tyr)
c.10403C>A (p.Ser3468Tyr)
c.10325C>A (p.Ser3442Tyr)
8g.76864234C>GCA371531504ZFHX4c.10520C>G (p.Ser3507Cys)
c.10442C>G (p.Ser3481Cys)
c.10403C>G (p.Ser3468Cys)
c.10325C>G (p.Ser3442Cys)
8g.76864234C>TCA371531503ZFHX4c.10520C>T (p.Ser3507Phe)
c.10442C>T (p.Ser3481Phe)
c.10403C>T (p.Ser3468Phe)
c.10325C>T (p.Ser3442Phe)
8g.76864235T>ACA461770719ZFHX4c.10521T>A (p.Ser3507=)
c.10443T>A (p.Ser3481=)
c.10404T>A (p.Ser3468=)
c.10326T>A (p.Ser3442=)
8g.76864235T>CCA461770720ZFHX4c.10521T>C (p.Ser3507=)
c.10443T>C (p.Ser3481=)
c.10404T>C (p.Ser3468=)
c.10326T>C (p.Ser3442=)
gnomAD v4
8g.76864235T>GCA461770721ZFHX4c.10521T>G (p.Ser3507=)
c.10443T>G (p.Ser3481=)
c.10404T>G (p.Ser3468=)
c.10326T>G (p.Ser3442=)
8g.76864236G>ACA371531506ZFHX4c.10522G>A (p.Ala3508Thr)
c.10444G>A (p.Ala3482Thr)
c.10405G>A (p.Ala3469Thr)
c.10327G>A (p.Ala3443Thr)
8g.76864236G>CCA371531507ZFHX4c.10522G>C (p.Ala3508Pro)
c.10444G>C (p.Ala3482Pro)
c.10405G>C (p.Ala3469Pro)
c.10327G>C (p.Ala3443Pro)
8g.76864236G>TCA371531508ZFHX4c.10522G>T (p.Ala3508Ser)
c.10444G>T (p.Ala3482Ser)
c.10405G>T (p.Ala3469Ser)
c.10327G>T (p.Ala3443Ser)
8g.76864237C>ACA371531509ZFHX4c.10523C>A (p.Ala3508Glu)
c.10445C>A (p.Ala3482Glu)
c.10406C>A (p.Ala3469Glu)
c.10328C>A (p.Ala3443Glu)
8g.76864237C>GCA371531510ZFHX4c.10523C>G (p.Ala3508Gly)
c.10445C>G (p.Ala3482Gly)
c.10406C>G (p.Ala3469Gly)
c.10328C>G (p.Ala3443Gly)
8g.76864237C>TCA371531511ZFHX4c.10523C>T (p.Ala3508Val)
c.10445C>T (p.Ala3482Val)
c.10406C>T (p.Ala3469Val)
c.10328C>T (p.Ala3443Val)
8g.76864238A>CCA461770723ZFHX4c.10524A>C (p.Ala3508=)
c.10446A>C (p.Ala3482=)
c.10407A>C (p.Ala3469=)
c.10329A>C (p.Ala3443=)
8g.76864238A>GCA461770724ZFHX4c.10524A>G (p.Ala3508=)
c.10446A>G (p.Ala3482=)
c.10407A>G (p.Ala3469=)
c.10329A>G (p.Ala3443=)
8g.76864238A>TCA461770725ZFHX4c.10524A>T (p.Ala3508=)
c.10446A>T (p.Ala3482=)
c.10407A>T (p.Ala3469=)
c.10329A>T (p.Ala3443=)
gnomAD v4
8g.76864239G>ACA371531512ZFHX4c.10525G>A (p.Ala3509Thr)
c.10447G>A (p.Ala3483Thr)
c.10408G>A (p.Ala3470Thr)
c.10330G>A (p.Ala3444Thr)
dbSNP gnomAD v3 gnomAD v4
8g.76864239G>CCA371531513ZFHX4c.10525G>C (p.Ala3509Pro)
c.10447G>C (p.Ala3483Pro)
c.10408G>C (p.Ala3470Pro)
c.10330G>C (p.Ala3444Pro)
dbSNP gnomAD v3 gnomAD v4
8g.76864239G=CA1795296531ZFHX4c.10525G= (p.Ala3509=)
c.10447G= (p.Ala3483=)
c.10408G= (p.Ala3470=)
c.10330G= (p.Ala3444=)
8g.76864239G>TCA371531514ZFHX4c.10525G>T (p.Ala3509Ser)
c.10447G>T (p.Ala3483Ser)
c.10408G>T (p.Ala3470Ser)
c.10330G>T (p.Ala3444Ser)
8g.76864240C>ACA371531515ZFHX4c.10526C>A (p.Ala3509Asp)
c.10448C>A (p.Ala3483Asp)
c.10409C>A (p.Ala3470Asp)
c.10331C>A (p.Ala3444Asp)
8g.76864240C>GCA371531516ZFHX4c.10526C>G (p.Ala3509Gly)
c.10448C>G (p.Ala3483Gly)
c.10409C>G (p.Ala3470Gly)
c.10331C>G (p.Ala3444Gly)
8g.76864240C>TCA371531517ZFHX4c.10526C>T (p.Ala3509Val)
c.10448C>T (p.Ala3483Val)
c.10409C>T (p.Ala3470Val)
c.10331C>T (p.Ala3444Val)
8g.76864245_76864247delCA2687716449ZFHX4c.10531_10533del (p.Ser3511del)
c.10453_10455del (p.Ser3485del)
c.10414_10416del (p.Ser3472del)
c.10336_10338del (p.Ser3446del)
gnomAD v4
8g.76864241T>ACA461770726ZFHX4c.10527T>A (p.Ala3509=)
c.10449T>A (p.Ala3483=)
c.10410T>A (p.Ala3470=)
c.10332T>A (p.Ala3444=)
8g.76864241T>CCA461770727ZFHX4c.10527T>C (p.Ala3509=)
c.10449T>C (p.Ala3483=)
c.10410T>C (p.Ala3470=)
c.10332T>C (p.Ala3444=)
8g.76864241T>GCA461770728ZFHX4c.10527T>G (p.Ala3509=)
c.10449T>G (p.Ala3483=)
c.10410T>G (p.Ala3470=)
c.10332T>G (p.Ala3444=)
8g.76864242T>ACA371531520ZFHX4c.10528T>A (p.Ser3510Thr)
c.10450T>A (p.Ser3484Thr)
c.10411T>A (p.Ser3471Thr)
c.10333T>A (p.Ser3445Thr)
8g.76864242T>CCA371531519ZFHX4c.10528T>C (p.Ser3510Pro)
c.10450T>C (p.Ser3484Pro)
c.10411T>C (p.Ser3471Pro)
c.10333T>C (p.Ser3445Pro)
8g.76864242T>GCA371531518ZFHX4c.10528T>G (p.Ser3510Ala)
c.10450T>G (p.Ser3484Ala)
c.10411T>G (p.Ser3471Ala)
c.10333T>G (p.Ser3445Ala)
8g.76864243C>ACA371531523ZFHX4c.10529C>A (p.Ser3510Tyr)
c.10451C>A (p.Ser3484Tyr)
c.10412C>A (p.Ser3471Tyr)
c.10334C>A (p.Ser3445Tyr)
8g.76864243C>GCA371531521ZFHX4c.10529C>G (p.Ser3510Cys)
c.10451C>G (p.Ser3484Cys)
c.10412C>G (p.Ser3471Cys)
c.10334C>G (p.Ser3445Cys)
8g.76864243C>TCA371531522ZFHX4c.10529C>T (p.Ser3510Phe)
c.10451C>T (p.Ser3484Phe)
c.10412C>T (p.Ser3471Phe)
c.10334C>T (p.Ser3445Phe)
8g.76864244T>ACA461770731ZFHX4c.10530T>A (p.Ser3510=)
c.10452T>A (p.Ser3484=)
c.10413T>A (p.Ser3471=)
c.10335T>A (p.Ser3445=)
8g.76864244T>CCA461770732ZFHX4c.10530T>C (p.Ser3510=)
c.10452T>C (p.Ser3484=)
c.10413T>C (p.Ser3471=)
c.10335T>C (p.Ser3445=)
8g.76864244T>GCA461770733ZFHX4c.10530T>G (p.Ser3510=)
c.10452T>G (p.Ser3484=)
c.10413T>G (p.Ser3471=)
c.10335T>G (p.Ser3445=)
8g.76864245T>ACA371531524ZFHX4c.10531T>A (p.Ser3511Thr)
c.10453T>A (p.Ser3485Thr)
c.10414T>A (p.Ser3472Thr)
c.10336T>A (p.Ser3446Thr)
8g.76864245T>CCA371531525ZFHX4c.10531T>C (p.Ser3511Pro)
c.10453T>C (p.Ser3485Pro)
c.10414T>C (p.Ser3472Pro)
c.10336T>C (p.Ser3446Pro)
8g.76864245T>GCA371531526ZFHX4c.10531T>G (p.Ser3511Ala)
c.10453T>G (p.Ser3485Ala)
c.10414T>G (p.Ser3472Ala)
c.10336T>G (p.Ser3446Ala)
8g.76864246C>ACA371531529ZFHX4c.10532C>A (p.Ser3511Tyr)
c.10454C>A (p.Ser3485Tyr)
c.10415C>A (p.Ser3472Tyr)
c.10337C>A (p.Ser3446Tyr)
8g.76864246C>GCA371531528ZFHX4c.10532C>G (p.Ser3511Cys)
c.10454C>G (p.Ser3485Cys)
c.10415C>G (p.Ser3472Cys)
c.10337C>G (p.Ser3446Cys)
8g.76864246C>TCA371531527ZFHX4c.10532C>T (p.Ser3511Phe)
c.10454C>T (p.Ser3485Phe)
c.10415C>T (p.Ser3472Phe)
c.10337C>T (p.Ser3446Phe)
8g.76864247T>ACA461770734ZFHX4c.10533T>A (p.Ser3511=)
c.10455T>A (p.Ser3485=)
c.10416T>A (p.Ser3472=)
c.10338T>A (p.Ser3446=)
8g.76864247T>CCA461770736ZFHX4c.10533T>C (p.Ser3511=)
c.10455T>C (p.Ser3485=)
c.10416T>C (p.Ser3472=)
c.10338T>C (p.Ser3446=)
8g.76864247T>GCA461770735ZFHX4c.10533T>G (p.Ser3511=)
c.10455T>G (p.Ser3485=)
c.10416T>G (p.Ser3472=)
c.10338T>G (p.Ser3446=)
8g.76864250_76864252delCA2579192512ZFHX4c.10536_10538del (p.Asn3513del)
c.10458_10460del (p.Asn3487del)
c.10419_10421del (p.Asn3474del)
c.10341_10343del (p.Asn3448del)
8g.76864248A>CCA371531530ZFHX4c.10534A>C (p.Asn3512His)
c.10456A>C (p.Asn3486His)
c.10417A>C (p.Asn3473His)
c.10339A>C (p.Asn3447His)
8g.76864248A>GCA371531531ZFHX4c.10534A>G (p.Asn3512Asp)
c.10456A>G (p.Asn3486Asp)
c.10417A>G (p.Asn3473Asp)
c.10339A>G (p.Asn3447Asp)
gnomAD v4
8g.76864248A>TCA371531532ZFHX4c.10534A>T (p.Asn3512Tyr)
c.10456A>T (p.Asn3486Tyr)
c.10417A>T (p.Asn3473Tyr)
c.10339A>T (p.Asn3447Tyr)
8g.76864249A>CCA371531533ZFHX4c.10535A>C (p.Asn3512Thr)
c.10457A>C (p.Asn3486Thr)
c.10418A>C (p.Asn3473Thr)
c.10340A>C (p.Asn3447Thr)
8g.76864249A>GCA371531534ZFHX4c.10535A>G (p.Asn3512Ser)
c.10457A>G (p.Asn3486Ser)
c.10418A>G (p.Asn3473Ser)
c.10340A>G (p.Asn3447Ser)
gnomAD v4 COSMIC COSMIC
8g.76864249A>TCA371531535ZFHX4c.10535A>T (p.Asn3512Ile)
c.10457A>T (p.Asn3486Ile)
c.10418A>T (p.Asn3473Ile)
c.10340A>T (p.Asn3447Ile)
8g.76864250T>ACA371531536ZFHX4c.10536T>A (p.Asn3512Lys)
c.10458T>A (p.Asn3486Lys)
c.10419T>A (p.Asn3473Lys)
c.10341T>A (p.Asn3447Lys)
gnomAD v4
8g.76864250T>CCA179375851ZFHX4c.10536T>C (p.Asn3512=)
c.10458T>C (p.Asn3486=)
c.10419T>C (p.Asn3473=)
c.10341T>C (p.Asn3447=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.76864250T>GCA371531537ZFHX4c.10536T>G (p.Asn3512Lys)
c.10458T>G (p.Asn3486Lys)
c.10419T>G (p.Asn3473Lys)
c.10341T>G (p.Asn3447Lys)
8g.76864250T=CA1795296532ZFHX4c.10536T= (p.Asn3512=)
c.10458T= (p.Asn3486=)
c.10419T= (p.Asn3473=)
c.10341T= (p.Asn3447=)
8g.76864251A>CCA371531538ZFHX4c.10537A>C (p.Asn3513His)
c.10459A>C (p.Asn3487His)
c.10420A>C (p.Asn3474His)
c.10342A>C (p.Asn3448His)
8g.76864251A>GCA371531539ZFHX4c.10537A>G (p.Asn3513Asp)
c.10459A>G (p.Asn3487Asp)
c.10420A>G (p.Asn3474Asp)
c.10342A>G (p.Asn3448Asp)
8g.76864251A>TCA371531540ZFHX4c.10537A>T (p.Asn3513Tyr)
c.10459A>T (p.Asn3487Tyr)
c.10420A>T (p.Asn3474Tyr)
c.10342A>T (p.Asn3448Tyr)
8g.76864252A=CA1795296533ZFHX4c.10538A= (p.Asn3513=)
c.10460A= (p.Asn3487=)
c.10421A= (p.Asn3474=)
c.10343A= (p.Asn3448=)
8g.76864252A>CCA371531541ZFHX4c.10538A>C (p.Asn3513Thr)
c.10460A>C (p.Asn3487Thr)
c.10421A>C (p.Asn3474Thr)
c.10343A>C (p.Asn3448Thr)
8g.76864252A>GCA371531542ZFHX4c.10538A>G (p.Asn3513Ser)
c.10460A>G (p.Asn3487Ser)
c.10421A>G (p.Asn3474Ser)
c.10343A>G (p.Asn3448Ser)
8g.76864252A>TCA371531543ZFHX4c.10538A>T (p.Asn3513Ile)
c.10460A>T (p.Asn3487Ile)
c.10421A>T (p.Asn3474Ile)
c.10343A>T (p.Asn3448Ile)
8g.76864253C>ACA371531544ZFHX4c.10539C>A (p.Asn3513Lys)
c.10461C>A (p.Asn3487Lys)
c.10422C>A (p.Asn3474Lys)
c.10344C>A (p.Asn3448Lys)
8g.76864253C=CA1795296534ZFHX4c.10539C= (p.Asn3513=)
c.10461C= (p.Asn3487=)
c.10422C= (p.Asn3474=)
c.10344C= (p.Asn3448=)
8g.76864253C>GCA371531545ZFHX4c.10539C>G (p.Asn3513Lys)
c.10461C>G (p.Asn3487Lys)
c.10422C>G (p.Asn3474Lys)
c.10344C>G (p.Asn3448Lys)
gnomAD v4
8g.76864253C>TCA461770738ZFHX4c.10539C>T (p.Asn3513=)
c.10461C>T (p.Asn3487=)
c.10422C>T (p.Asn3474=)
c.10344C>T (p.Asn3448=)
dbSNP gnomAD v3 gnomAD v4
8g.76864254_76864256dupCA855429011ZFHX4c.10540_10542dup (p.Thr3514_Tyr3515insThr)
c.10462_10464dup (p.Thr3488_Tyr3489insThr)
c.10423_10425dup (p.Thr3475_Tyr3476insThr)
c.10345_10347dup (p.Thr3449_Tyr3450insThr)
dbSNP gnomAD v4
8g.76864254A>CCA371531546ZFHX4c.10540A>C (p.Thr3514Pro)
c.10462A>C (p.Thr3488Pro)
c.10423A>C (p.Thr3475Pro)
c.10345A>C (p.Thr3449Pro)
8g.76864254A>GCA371531547ZFHX4c.10540A>G (p.Thr3514Ala)
c.10462A>G (p.Thr3488Ala)
c.10423A>G (p.Thr3475Ala)
c.10345A>G (p.Thr3449Ala)
8g.76864254A>TCA371531548ZFHX4c.10540A>T (p.Thr3514Ser)
c.10462A>T (p.Thr3488Ser)
c.10423A>T (p.Thr3475Ser)
c.10345A>T (p.Thr3449Ser)
8g.76864255C>ACA371531550ZFHX4c.10541C>A (p.Thr3514Asn)
c.10463C>A (p.Thr3488Asn)
c.10424C>A (p.Thr3475Asn)
c.10346C>A (p.Thr3449Asn)
dbSNP gnomAD v3 gnomAD v4
8g.76864255C=CA1795296535ZFHX4c.10541C= (p.Thr3514=)
c.10463C= (p.Thr3488=)
c.10424C= (p.Thr3475=)
c.10346C= (p.Thr3449=)
8g.76864255C>GCA4788553ZFHX4c.10541C>G (p.Thr3514Ser)
c.10463C>G (p.Thr3488Ser)
c.10424C>G (p.Thr3475Ser)
c.10346C>G (p.Thr3449Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.76864255C>TCA371531549ZFHX4c.10541C>T (p.Thr3514Ile)
c.10463C>T (p.Thr3488Ile)
c.10424C>T (p.Thr3475Ile)
c.10346C>T (p.Thr3449Ile)
gnomAD v4
8g.76864256C>ACA461770739ZFHX4c.10542C>A (p.Thr3514=)
c.10464C>A (p.Thr3488=)
c.10425C>A (p.Thr3475=)
c.10347C>A (p.Thr3449=)
8g.76864256C>GCA461770741ZFHX4c.10542C>G (p.Thr3514=)
c.10464C>G (p.Thr3488=)
c.10425C>G (p.Thr3475=)
c.10347C>G (p.Thr3449=)
8g.76864256C>TCA461770743ZFHX4c.10542C>T (p.Thr3514=)
c.10464C>T (p.Thr3488=)
c.10425C>T (p.Thr3475=)
c.10347C>T (p.Thr3449=)
8g.76864257T>ACA371531551ZFHX4c.10543T>A (p.Tyr3515Asn)
c.10465T>A (p.Tyr3489Asn)
c.10426T>A (p.Tyr3476Asn)
c.10348T>A (p.Tyr3450Asn)
8g.76864257T>CCA371531553ZFHX4c.10543T>C (p.Tyr3515His)
c.10465T>C (p.Tyr3489His)
c.10426T>C (p.Tyr3476His)
c.10348T>C (p.Tyr3450His)
gnomAD v4
8g.76864257T>GCA371531552ZFHX4c.10543T>G (p.Tyr3515Asp)
c.10465T>G (p.Tyr3489Asp)
c.10426T>G (p.Tyr3476Asp)
c.10348T>G (p.Tyr3450Asp)
8g.76864258A=CA1795296536ZFHX4c.10544A= (p.Tyr3515=)
c.10466A= (p.Tyr3489=)
c.10427A= (p.Tyr3476=)
c.10349A= (p.Tyr3450=)
8g.76864258A>CCA371531554ZFHX4c.10544A>C (p.Tyr3515Ser)
c.10466A>C (p.Tyr3489Ser)
c.10427A>C (p.Tyr3476Ser)
c.10349A>C (p.Tyr3450Ser)
8g.76864258A>GCA4788554ZFHX4c.10544A>G (p.Tyr3515Cys)
c.10466A>G (p.Tyr3489Cys)
c.10427A>G (p.Tyr3476Cys)
c.10349A>G (p.Tyr3450Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.76864258A>TCA371531555ZFHX4c.10544A>T (p.Tyr3515Phe)
c.10466A>T (p.Tyr3489Phe)
c.10427A>T (p.Tyr3476Phe)
c.10349A>T (p.Tyr3450Phe)
8g.76864259T>ACA371531556ZFHX4c.10545T>A (p.Tyr3515Ter)
c.10467T>A (p.Tyr3489Ter)
c.10428T>A (p.Tyr3476Ter)
c.10350T>A (p.Tyr3450Ter)
8g.76864259T>CCA461770745ZFHX4c.10545T>C (p.Tyr3515=)
c.10467T>C (p.Tyr3489=)
c.10428T>C (p.Tyr3476=)
c.10350T>C (p.Tyr3450=)
8g.76864259T>GCA371531557ZFHX4c.10545T>G (p.Tyr3515Ter)
c.10467T>G (p.Tyr3489Ter)
c.10428T>G (p.Tyr3476Ter)
c.10350T>G (p.Tyr3450Ter)
8g.76864260C>ACA371531558ZFHX4c.10546C>A (p.Pro3516Thr)
c.10468C>A (p.Pro3490Thr)
c.10429C>A (p.Pro3477Thr)
c.10351C>A (p.Pro3451Thr)
8g.76864260C=CA1795296537ZFHX4c.10546C= (p.Pro3516=)
c.10468C= (p.Pro3490=)
c.10429C= (p.Pro3477=)
c.10351C= (p.Pro3451=)
8g.76864260C>GCA371531559ZFHX4c.10546C>G (p.Pro3516Ala)
c.10468C>G (p.Pro3490Ala)
c.10429C>G (p.Pro3477Ala)
c.10351C>G (p.Pro3451Ala)
dbSNP
8g.76864260C>TCA371531560ZFHX4c.10546C>T (p.Pro3516Ser)
c.10468C>T (p.Pro3490Ser)
c.10429C>T (p.Pro3477Ser)
c.10351C>T (p.Pro3451Ser)
dbSNP
8g.76864261C>ACA371531561ZFHX4c.10547C>A (p.Pro3516His)
c.10469C>A (p.Pro3490His)
c.10430C>A (p.Pro3477His)
c.10352C>A (p.Pro3451His)
8g.76864261C=CA1795296538ZFHX4c.10547C= (p.Pro3516=)
c.10469C= (p.Pro3490=)
c.10430C= (p.Pro3477=)
c.10352C= (p.Pro3451=)
8g.76864261C>GCA371531562ZFHX4c.10547C>G (p.Pro3516Arg)
c.10469C>G (p.Pro3490Arg)
c.10430C>G (p.Pro3477Arg)
c.10352C>G (p.Pro3451Arg)
8g.76864261C>TCA4788555ZFHX4c.10547C>T (p.Pro3516Leu)
c.10469C>T (p.Pro3490Leu)
c.10430C>T (p.Pro3477Leu)
c.10352C>T (p.Pro3451Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.76864262T>ACA461770749ZFHX4c.10548T>A (p.Pro3516=)
c.10470T>A (p.Pro3490=)
c.10431T>A (p.Pro3477=)
c.10353T>A (p.Pro3451=)
8g.76864262T>CCA461770750ZFHX4c.10548T>C (p.Pro3516=)
c.10470T>C (p.Pro3490=)
c.10431T>C (p.Pro3477=)
c.10353T>C (p.Pro3451=)
8g.76864262T>GCA461770751ZFHX4c.10548T>G (p.Pro3516=)
c.10470T>G (p.Pro3490=)
c.10431T>G (p.Pro3477=)
c.10353T>G (p.Pro3451=)
8g.76864263C>ACA371531565ZFHX4c.10549C>A (p.His3517Asn)
c.10471C>A (p.His3491Asn)
c.10432C>A (p.His3478Asn)
c.10354C>A (p.His3452Asn)
8g.76864263C>GCA371531564ZFHX4c.10549C>G (p.His3517Asp)
c.10471C>G (p.His3491Asp)
c.10432C>G (p.His3478Asp)
c.10354C>G (p.His3452Asp)
8g.76864263C>TCA371531563ZFHX4c.10549C>T (p.His3517Tyr)
c.10471C>T (p.His3491Tyr)
c.10432C>T (p.His3478Tyr)
c.10354C>T (p.His3452Tyr)
8g.76864264A>CCA371531566ZFHX4c.10550A>C (p.His3517Pro)
c.10472A>C (p.His3491Pro)
c.10433A>C (p.His3478Pro)
c.10355A>C (p.His3452Pro)
8g.76864264A>GCA371531567ZFHX4c.10550A>G (p.His3517Arg)
c.10472A>G (p.His3491Arg)
c.10433A>G (p.His3478Arg)
c.10355A>G (p.His3452Arg)
8g.76864264A>TCA371531568ZFHX4c.10550A>T (p.His3517Leu)
c.10472A>T (p.His3491Leu)
c.10433A>T (p.His3478Leu)
c.10355A>T (p.His3452Leu)
8g.76864265T>ACA371531569ZFHX4c.10551T>A (p.His3517Gln)
c.10473T>A (p.His3491Gln)
c.10434T>A (p.His3478Gln)
c.10356T>A (p.His3452Gln)
8g.76864265T>CCA461770753ZFHX4c.10551T>C (p.His3517=)
c.10473T>C (p.His3491=)
c.10434T>C (p.His3478=)
c.10356T>C (p.His3452=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.76864265T>GCA371531570ZFHX4c.10551T>G (p.His3517Gln)
c.10473T>G (p.His3491Gln)
c.10434T>G (p.His3478Gln)
c.10356T>G (p.His3452Gln)
8g.76864265T=CA1795296539ZFHX4c.10551T= (p.His3517=)
c.10473T= (p.His3491=)
c.10434T= (p.His3478=)
c.10356T= (p.His3452=)
8g.76864266C>ACA371531571ZFHX4c.10552C>A (p.Leu3518Ile)
c.10474C>A (p.Leu3492Ile)
c.10435C>A (p.Leu3479Ile)
c.10357C>A (p.Leu3453Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.76864266C=CA1795296540ZFHX4c.10552C= (p.Leu3518=)
c.10474C= (p.Leu3492=)
c.10435C= (p.Leu3479=)
c.10357C= (p.Leu3453=)
8g.76864266C>GCA371531572ZFHX4c.10552C>G (p.Leu3518Val)
c.10474C>G (p.Leu3492Val)
c.10435C>G (p.Leu3479Val)
c.10357C>G (p.Leu3453Val)
8g.76864266C>TCA371531573ZFHX4c.10552C>T (p.Leu3518Phe)
c.10474C>T (p.Leu3492Phe)
c.10435C>T (p.Leu3479Phe)
c.10357C>T (p.Leu3453Phe)
gnomAD v4 COSMIC
8g.76864267T>ACA371531574ZFHX4c.10553T>A (p.Leu3518His)
c.10475T>A (p.Leu3492His)
c.10436T>A (p.Leu3479His)
c.10358T>A (p.Leu3453His)
8g.76864267T>CCA371531575ZFHX4c.10553T>C (p.Leu3518Pro)
c.10475T>C (p.Leu3492Pro)
c.10436T>C (p.Leu3479Pro)
c.10358T>C (p.Leu3453Pro)
8g.76864267T>GCA371531576ZFHX4c.10553T>G (p.Leu3518Arg)
c.10475T>G (p.Leu3492Arg)
c.10436T>G (p.Leu3479Arg)
c.10358T>G (p.Leu3453Arg)
8g.76864268T>ACA461770756ZFHX4c.10554T>A (p.Leu3518=)
c.10476T>A (p.Leu3492=)
c.10437T>A (p.Leu3479=)
c.10359T>A (p.Leu3453=)
8g.76864268T>CCA461770758ZFHX4c.10554T>C (p.Leu3518=)
c.10476T>C (p.Leu3492=)
c.10437T>C (p.Leu3479=)
c.10359T>C (p.Leu3453=)
8g.76864268T>GCA461770757ZFHX4c.10554T>G (p.Leu3518=)
c.10476T>G (p.Leu3492=)
c.10437T>G (p.Leu3479=)
c.10359T>G (p.Leu3453=)
gnomAD v4
8g.76864269T>ACA371531579ZFHX4c.10555T>A (p.Ser3519Thr)
c.10477T>A (p.Ser3493Thr)
c.10438T>A (p.Ser3480Thr)
c.10360T>A (p.Ser3454Thr)
8g.76864269T>CCA371531578ZFHX4c.10555T>C (p.Ser3519Pro)
c.10477T>C (p.Ser3493Pro)
c.10438T>C (p.Ser3480Pro)
c.10360T>C (p.Ser3454Pro)
gnomAD v4
8g.76864269T>GCA371531577ZFHX4c.10555T>G (p.Ser3519Ala)
c.10477T>G (p.Ser3493Ala)
c.10438T>G (p.Ser3480Ala)
c.10360T>G (p.Ser3454Ala)
8g.76864270C>ACA371531580ZFHX4c.10556C>A (p.Ser3519Tyr)
c.10478C>A (p.Ser3493Tyr)
c.10439C>A (p.Ser3480Tyr)
c.10361C>A (p.Ser3454Tyr)
8g.76864270C>GCA371531581ZFHX4c.10556C>G (p.Ser3519Cys)
c.10478C>G (p.Ser3493Cys)
c.10439C>G (p.Ser3480Cys)
c.10361C>G (p.Ser3454Cys)
gnomAD v4
8g.76864270C>TCA371531582ZFHX4c.10556C>T (p.Ser3519Phe)
c.10478C>T (p.Ser3493Phe)
c.10439C>T (p.Ser3480Phe)
c.10361C>T (p.Ser3454Phe)
8g.76864271T>ACA461770761ZFHX4c.10557T>A (p.Ser3519=)
c.10479T>A (p.Ser3493=)
c.10440T>A (p.Ser3480=)
c.10362T>A (p.Ser3454=)
8g.76864271T>CCA461770763ZFHX4c.10557T>C (p.Ser3519=)
c.10479T>C (p.Ser3493=)
c.10440T>C (p.Ser3480=)
c.10362T>C (p.Ser3454=)
gnomAD v4
8g.76864271T>GCA461770764ZFHX4c.10557T>G (p.Ser3519=)
c.10479T>G (p.Ser3493=)
c.10440T>G (p.Ser3480=)
c.10362T>G (p.Ser3454=)
8g.76864272T>ACA371531583ZFHX4c.10558T>A (p.Cys3520Ser)
c.10480T>A (p.Cys3494Ser)
c.10441T>A (p.Cys3481Ser)
c.10363T>A (p.Cys3455Ser)
8g.76864272T>CCA371531584ZFHX4c.10558T>C (p.Cys3520Arg)
c.10480T>C (p.Cys3494Arg)
c.10441T>C (p.Cys3481Arg)
c.10363T>C (p.Cys3455Arg)
8g.76864272T>GCA371531585ZFHX4c.10558T>G (p.Cys3520Gly)
c.10480T>G (p.Cys3494Gly)
c.10441T>G (p.Cys3481Gly)
c.10363T>G (p.Cys3455Gly)
8g.76864273G>ACA371531588ZFHX4c.10559G>A (p.Cys3520Tyr)
c.10481G>A (p.Cys3494Tyr)
c.10442G>A (p.Cys3481Tyr)
c.10364G>A (p.Cys3455Tyr)
dbSNP
8g.76864273G>CCA371531586ZFHX4c.10559G>C (p.Cys3520Ser)
c.10481G>C (p.Cys3494Ser)
c.10442G>C (p.Cys3481Ser)
c.10364G>C (p.Cys3455Ser)
8g.76864273G=CA1795296541ZFHX4c.10559G= (p.Cys3520=)
c.10481G= (p.Cys3494=)
c.10442G= (p.Cys3481=)
c.10364G= (p.Cys3455=)
8g.76864273G>TCA371531587ZFHX4c.10559G>T (p.Cys3520Phe)
c.10481G>T (p.Cys3494Phe)
c.10442G>T (p.Cys3481Phe)
c.10364G>T (p.Cys3455Phe)
8g.76864274C>ACA371531589ZFHX4c.10560C>A (p.Cys3520Ter)
c.10482C>A (p.Cys3494Ter)
c.10443C>A (p.Cys3481Ter)
c.10365C>A (p.Cys3455Ter)
8g.76864274C>GCA371531590ZFHX4c.10560C>G (p.Cys3520Trp)
c.10482C>G (p.Cys3494Trp)
c.10443C>G (p.Cys3481Trp)
c.10365C>G (p.Cys3455Trp)
8g.76864274C>TCA461770765ZFHX4c.10560C>T (p.Cys3520=)
c.10482C>T (p.Cys3494=)
c.10443C>T (p.Cys3481=)
c.10365C>T (p.Cys3455=)
gnomAD v4
8g.76864275T>ACA371531591ZFHX4c.10561T>A (p.Phe3521Ile)
c.10483T>A (p.Phe3495Ile)
c.10444T>A (p.Phe3482Ile)
c.10366T>A (p.Phe3456Ile)
8g.76864275T>CCA371531592ZFHX4c.10561T>C (p.Phe3521Leu)
c.10483T>C (p.Phe3495Leu)
c.10444T>C (p.Phe3482Leu)
c.10366T>C (p.Phe3456Leu)
8g.76864275T>GCA371531593ZFHX4c.10561T>G (p.Phe3521Val)
c.10483T>G (p.Phe3495Val)
c.10444T>G (p.Phe3482Val)
c.10366T>G (p.Phe3456Val)
8g.76864276T>ACA371531594ZFHX4c.10562T>A (p.Phe3521Tyr)
c.10484T>A (p.Phe3495Tyr)
c.10445T>A (p.Phe3482Tyr)
c.10367T>A (p.Phe3456Tyr)
8g.76864276T>CCA371531596ZFHX4c.10562T>C (p.Phe3521Ser)
c.10484T>C (p.Phe3495Ser)
c.10445T>C (p.Phe3482Ser)
c.10367T>C (p.Phe3456Ser)
8g.76864276T>GCA371531595ZFHX4c.10562T>G (p.Phe3521Cys)
c.10484T>G (p.Phe3495Cys)
c.10445T>G (p.Phe3482Cys)
c.10367T>G (p.Phe3456Cys)
8g.76864277C>ACA4788556ZFHX4c.10563C>A (p.Phe3521Leu)
c.10485C>A (p.Phe3495Leu)
c.10446C>A (p.Phe3482Leu)
c.10368C>A (p.Phe3456Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.76864277C=CA1795296542ZFHX4c.10563C= (p.Phe3521=)
c.10485C= (p.Phe3495=)
c.10446C= (p.Phe3482=)
c.10368C= (p.Phe3456=)
8g.76864277C>GCA371531597ZFHX4c.10563C>G (p.Phe3521Leu)
c.10485C>G (p.Phe3495Leu)
c.10446C>G (p.Phe3482Leu)
c.10368C>G (p.Phe3456Leu)
8g.76864277C>TCA461770772ZFHX4c.10563C>T (p.Phe3521=)
c.10485C>T (p.Phe3495=)
c.10446C>T (p.Phe3482=)
c.10368C>T (p.Phe3456=)
dbSNP
8g.76864278T>ACA371531598ZFHX4c.10564T>A (p.Ser3522Thr)
c.10486T>A (p.Ser3496Thr)
c.10447T>A (p.Ser3483Thr)
c.10369T>A (p.Ser3457Thr)
8g.76864278T>CCA371531599ZFHX4c.10564T>C (p.Ser3522Pro)
c.10486T>C (p.Ser3496Pro)
c.10447T>C (p.Ser3483Pro)
c.10369T>C (p.Ser3457Pro)
gnomAD v4
8g.76864278T>GCA371531600ZFHX4c.10564T>G (p.Ser3522Ala)
c.10486T>G (p.Ser3496Ala)
c.10447T>G (p.Ser3483Ala)
c.10369T>G (p.Ser3457Ala)
8g.76864279C>ACA371531601ZFHX4c.10565C>A (p.Ser3522Tyr)
c.10487C>A (p.Ser3496Tyr)
c.10448C>A (p.Ser3483Tyr)
c.10370C>A (p.Ser3457Tyr)
8g.76864279C>GCA371531602ZFHX4c.10565C>G (p.Ser3522Cys)
c.10487C>G (p.Ser3496Cys)
c.10448C>G (p.Ser3483Cys)
c.10370C>G (p.Ser3457Cys)
8g.76864279C>TCA371531603ZFHX4c.10565C>T (p.Ser3522Phe)
c.10487C>T (p.Ser3496Phe)
c.10448C>T (p.Ser3483Phe)
c.10370C>T (p.Ser3457Phe)
COSMIC
8g.76864280C>ACA461770776ZFHX4c.10566C>A (p.Ser3522=)
c.10488C>A (p.Ser3496=)
c.10449C>A (p.Ser3483=)
c.10371C>A (p.Ser3457=)
8g.76864280C=CA1795296543ZFHX4c.10566C= (p.Ser3522=)
c.10488C= (p.Ser3496=)
c.10449C= (p.Ser3483=)
c.10371C= (p.Ser3457=)
8g.76864280C>GCA461770777ZFHX4c.10566C>G (p.Ser3522=)
c.10488C>G (p.Ser3496=)
c.10449C>G (p.Ser3483=)
c.10371C>G (p.Ser3457=)
8g.76864280C>TCA179375867ZFHX4c.10566C>T (p.Ser3522=)
c.10488C>T (p.Ser3496=)
c.10449C>T (p.Ser3483=)
c.10371C>T (p.Ser3457=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.76864281A=CA1795296544ZFHX4c.10567A= (p.Met3523=)
c.10489A= (p.Met3497=)
c.10450A= (p.Met3484=)
c.10372A= (p.Met3458=)
8g.76864281A>CCA4788557ZFHX4c.10567A>C (p.Met3523Leu)
c.10489A>C (p.Met3497Leu)
c.10450A>C (p.Met3484Leu)
c.10372A>C (p.Met3458Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.76864281A>GCA4788558ZFHX4c.10567A>G (p.Met3523Val)
c.10489A>G (p.Met3497Val)
c.10450A>G (p.Met3484Val)
c.10372A>G (p.Met3458Val)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.76864281A>TCA371531604ZFHX4c.10567A>T (p.Met3523Leu)
c.10489A>T (p.Met3497Leu)
c.10450A>T (p.Met3484Leu)
c.10372A>T (p.Met3458Leu)
8g.76864282T>ACA371531606ZFHX4c.10568T>A (p.Met3523Lys)
c.10490T>A (p.Met3497Lys)
c.10451T>A (p.Met3484Lys)
c.10373T>A (p.Met3458Lys)
8g.76864282T>CCA4788559ZFHX4c.10568T>C (p.Met3523Thr)
c.10490T>C (p.Met3497Thr)
c.10451T>C (p.Met3484Thr)
c.10373T>C (p.Met3458Thr)
dbSNP ExAC gnomAD v2
8g.76864282T>GCA371531605ZFHX4c.10568T>G (p.Met3523Arg)
c.10490T>G (p.Met3497Arg)
c.10451T>G (p.Met3484Arg)
c.10373T>G (p.Met3458Arg)
8g.76864282T=CA1795296545ZFHX4c.10568T= (p.Met3523=)
c.10490T= (p.Met3497=)
c.10451T= (p.Met3484=)
c.10373T= (p.Met3458=)
8g.76864283G>ACA371531608ZFHX4c.10569G>A (p.Met3523Ile)
c.10491G>A (p.Met3497Ile)
c.10452G>A (p.Met3484Ile)
c.10374G>A (p.Met3458Ile)
8g.76864283G>CCA371531607ZFHX4c.10569G>C (p.Met3523Ile)
c.10491G>C (p.Met3497Ile)
c.10452G>C (p.Met3484Ile)
c.10374G>C (p.Met3458Ile)
8g.76864283G>TCA371531609ZFHX4c.10569G>T (p.Met3523Ile)
c.10491G>T (p.Met3497Ile)
c.10452G>T (p.Met3484Ile)
c.10374G>T (p.Met3458Ile)
8g.76864284A>CCA371531610ZFHX4c.10570A>C (p.Lys3524Gln)
c.10492A>C (p.Lys3498Gln)
c.10453A>C (p.Lys3485Gln)
c.10375A>C (p.Lys3459Gln)
8g.76864284A>GCA371531611ZFHX4c.10570A>G (p.Lys3524Glu)
c.10492A>G (p.Lys3498Glu)
c.10453A>G (p.Lys3485Glu)
c.10375A>G (p.Lys3459Glu)
8g.76864284A>TCA371531612ZFHX4c.10570A>T (p.Lys3524Ter)
c.10492A>T (p.Lys3498Ter)
c.10453A>T (p.Lys3485Ter)
c.10375A>T (p.Lys3459Ter)
8g.76864285A>CCA371531613ZFHX4c.10571A>C (p.Lys3524Thr)
c.10493A>C (p.Lys3498Thr)
c.10454A>C (p.Lys3485Thr)
c.10376A>C (p.Lys3459Thr)
gnomAD v4 COSMIC COSMIC
8g.76864285A>GCA371531614ZFHX4c.10571A>G (p.Lys3524Arg)
c.10493A>G (p.Lys3498Arg)
c.10454A>G (p.Lys3485Arg)
c.10376A>G (p.Lys3459Arg)
gnomAD v3 gnomAD v4
8g.76864285A>TCA371531615ZFHX4c.10571A>T (p.Lys3524Met)
c.10493A>T (p.Lys3498Met)
c.10454A>T (p.Lys3485Met)
c.10376A>T (p.Lys3459Met)
gnomAD v4
8g.76864286G>ACA461770796ZFHX4c.10572G>A (p.Lys3524=)
c.10494G>A (p.Lys3498=)
c.10455G>A (p.Lys3485=)
c.10377G>A (p.Lys3459=)
dbSNP gnomAD v4
8g.76864286G>CCA371531617ZFHX4c.10572G>C (p.Lys3524Asn)
c.10494G>C (p.Lys3498Asn)
c.10455G>C (p.Lys3485Asn)
c.10377G>C (p.Lys3459Asn)
8g.76864286G=CA1795296546ZFHX4c.10572G= (p.Lys3524=)
c.10494G= (p.Lys3498=)
c.10455G= (p.Lys3485=)
c.10377G= (p.Lys3459=)
8g.76864286G>TCA371531616ZFHX4c.10572G>T (p.Lys3524Asn)
c.10494G>T (p.Lys3498Asn)
c.10455G>T (p.Lys3485Asn)
c.10377G>T (p.Lys3459Asn)
8g.76864287T>ACA371531618ZFHX4c.10573T>A (p.Ser3525Thr)
c.10495T>A (p.Ser3499Thr)
c.10456T>A (p.Ser3486Thr)
c.10378T>A (p.Ser3460Thr)
gnomAD v4
8g.76864287T>CCA371531619ZFHX4c.10573T>C (p.Ser3525Pro)
c.10495T>C (p.Ser3499Pro)
c.10456T>C (p.Ser3486Pro)
c.10378T>C (p.Ser3460Pro)
8g.76864287T>GCA371531620ZFHX4c.10573T>G (p.Ser3525Ala)
c.10495T>G (p.Ser3499Ala)
c.10456T>G (p.Ser3486Ala)
c.10378T>G (p.Ser3460Ala)
8g.76864288C>ACA371531621ZFHX4c.10574C>A (p.Ser3525Tyr)
c.10496C>A (p.Ser3499Tyr)
c.10457C>A (p.Ser3486Tyr)
c.10379C>A (p.Ser3460Tyr)
8g.76864288C=CA1795296547ZFHX4c.10574C= (p.Ser3525=)
c.10496C= (p.Ser3499=)
c.10457C= (p.Ser3486=)
c.10379C= (p.Ser3460=)
8g.76864288C>GCA371531622ZFHX4c.10574C>G (p.Ser3525Cys)
c.10496C>G (p.Ser3499Cys)
c.10457C>G (p.Ser3486Cys)
c.10379C>G (p.Ser3460Cys)
8g.76864288C>TCA371531623ZFHX4c.10574C>T (p.Ser3525Phe)
c.10496C>T (p.Ser3499Phe)
c.10457C>T (p.Ser3486Phe)
c.10379C>T (p.Ser3460Phe)
dbSNP COSMIC COSMIC
8g.76864289C>ACA461770803ZFHX4c.10575C>A (p.Ser3525=)
c.10497C>A (p.Ser3499=)
c.10458C>A (p.Ser3486=)
c.10380C>A (p.Ser3460=)
8g.76864289C=CA1795296548ZFHX4c.10575C= (p.Ser3525=)
c.10497C= (p.Ser3499=)
c.10458C= (p.Ser3486=)
c.10380C= (p.Ser3460=)
8g.76864289C>GCA461770804ZFHX4c.10575C>G (p.Ser3525=)
c.10497C>G (p.Ser3499=)
c.10458C>G (p.Ser3486=)
c.10380C>G (p.Ser3460=)
dbSNP gnomAD v2 gnomAD v4
8g.76864289C>TCA461770802ZFHX4c.10575C>T (p.Ser3525=)
c.10497C>T (p.Ser3499=)
c.10458C>T (p.Ser3486=)
c.10380C>T (p.Ser3460=)
8g.76864290T>ACA371531624ZFHX4c.10576T>A (p.Trp3526Arg)
c.10498T>A (p.Trp3500Arg)
c.10459T>A (p.Trp3487Arg)
c.10381T>A (p.Trp3461Arg)
8g.76864290T>CCA4788560ZFHX4c.10576T>C (p.Trp3526Arg)
c.10498T>C (p.Trp3500Arg)
c.10459T>C (p.Trp3487Arg)
c.10381T>C (p.Trp3461Arg)
dbSNP ExAC gnomAD v2
8g.76864290T>GCA371531625ZFHX4c.10576T>G (p.Trp3526Gly)
c.10498T>G (p.Trp3500Gly)
c.10459T>G (p.Trp3487Gly)
c.10381T>G (p.Trp3461Gly)
8g.76864290T=CA1795296549ZFHX4c.10576T= (p.Trp3526=)
c.10498T= (p.Trp3500=)
c.10459T= (p.Trp3487=)
c.10381T= (p.Trp3461=)
8g.76864291G>ACA371531626ZFHX4c.10577G>A (p.Trp3526Ter)
c.10499G>A (p.Trp3500Ter)
c.10460G>A (p.Trp3487Ter)
c.10382G>A (p.Trp3461Ter)
8g.76864291G>CCA371531627ZFHX4c.10577G>C (p.Trp3526Ser)
c.10499G>C (p.Trp3500Ser)
c.10460G>C (p.Trp3487Ser)
c.10382G>C (p.Trp3461Ser)
8g.76864291G>TCA371531628ZFHX4c.10577G>T (p.Trp3526Leu)
c.10499G>T (p.Trp3500Leu)
c.10460G>T (p.Trp3487Leu)
c.10382G>T (p.Trp3461Leu)
8g.76864292G>ACA371531629ZFHX4c.10578G>A (p.Trp3526Ter)
c.10500G>A (p.Trp3500Ter)
c.10461G>A (p.Trp3487Ter)
c.10383G>A (p.Trp3461Ter)
8g.76864292G>CCA371531630ZFHX4c.10578G>C (p.Trp3526Cys)
c.10500G>C (p.Trp3500Cys)
c.10461G>C (p.Trp3487Cys)
c.10383G>C (p.Trp3461Cys)
8g.76864292G>TCA371531631ZFHX4c.10578G>T (p.Trp3526Cys)
c.10500G>T (p.Trp3500Cys)
c.10461G>T (p.Trp3487Cys)
c.10383G>T (p.Trp3461Cys)
8g.76864293C>ACA371531632ZFHX4c.10579C>A (p.Pro3527Thr)
c.10501C>A (p.Pro3501Thr)
c.10462C>A (p.Pro3488Thr)
c.10384C>A (p.Pro3462Thr)
dbSNP
8g.76864293C=CA1795296550ZFHX4c.10579C= (p.Pro3527=)
c.10501C= (p.Pro3501=)
c.10462C= (p.Pro3488=)
c.10384C= (p.Pro3462=)
8g.76864293C>GCA371531633ZFHX4c.10579C>G (p.Pro3527Ala)
c.10501C>G (p.Pro3501Ala)
c.10462C>G (p.Pro3488Ala)
c.10384C>G (p.Pro3462Ala)
dbSNP gnomAD v3 gnomAD v4
8g.76864293C>TCA371531634ZFHX4c.10579C>T (p.Pro3527Ser)
c.10501C>T (p.Pro3501Ser)
c.10462C>T (p.Pro3488Ser)
c.10384C>T (p.Pro3462Ser)
COSMIC COSMIC
8g.76864293_76864294insAGACGCA2830545182ZFHX4c.10579_10580insAGACG (p.Pro3527GlnfsTer?)
c.10501_10502insAGACG (p.Pro3501GlnfsTer?)
c.10462_10463insAGACG (p.Pro3488GlnfsTer?)
c.10384_10385insAGACG (p.Pro3462GlnfsTer?)
8g.76864294C>ACA371531635ZFHX4c.10580C>A (p.Pro3527His)
c.10502C>A (p.Pro3501His)
c.10463C>A (p.Pro3488His)
c.10385C>A (p.Pro3462His)
8g.76864294C>GCA371531636ZFHX4c.10580C>G (p.Pro3527Arg)
c.10502C>G (p.Pro3501Arg)
c.10463C>G (p.Pro3488Arg)
c.10385C>G (p.Pro3462Arg)
8g.76864294C>TCA371531637ZFHX4c.10580C>T (p.Pro3527Leu)
c.10502C>T (p.Pro3501Leu)
c.10463C>T (p.Pro3488Leu)
c.10385C>T (p.Pro3462Leu)
8g.76864295T>ACA461770808ZFHX4c.10581T>A (p.Pro3527=)
c.10503T>A (p.Pro3501=)
c.10464T>A (p.Pro3488=)
c.10386T>A (p.Pro3462=)
8g.76864295T>CCA179375906ZFHX4c.10581T>C (p.Pro3527=)
c.10503T>C (p.Pro3501=)
c.10464T>C (p.Pro3488=)
c.10386T>C (p.Pro3462=)
dbSNP gnomAD v4
8g.76864295T>GCA461770810ZFHX4c.10581T>G (p.Pro3527=)
c.10503T>G (p.Pro3501=)
c.10464T>G (p.Pro3488=)
c.10386T>G (p.Pro3462=)
8g.76864295T=CA1795296551ZFHX4c.10581T= (p.Pro3527=)
c.10503T= (p.Pro3501=)
c.10464T= (p.Pro3488=)
c.10386T= (p.Pro3462=)
8g.76864295_76864296insTGGCA2830545183ZFHX4c.10581_10582insTGG (p.Pro3527_Asn3528insTrp)
c.10503_10504insTGG (p.Pro3501_Asn3502insTrp)
c.10464_10465insTGG (p.Pro3488_Asn3489insTrp)
c.10386_10387insTGG (p.Pro3462_Asn3463insTrp)
8g.76864296A>CCA371531639ZFHX4c.10582A>C (p.Asn3528His)
c.10504A>C (p.Asn3502His)
c.10465A>C (p.Asn3489His)
c.10387A>C (p.Asn3463His)
8g.76864296A>GCA371531638ZFHX4c.10582A>G (p.Asn3528Asp)
c.10504A>G (p.Asn3502Asp)
c.10465A>G (p.Asn3489Asp)
c.10387A>G (p.Asn3463Asp)
8g.76864296A>TCA371531640ZFHX4c.10582A>T (p.Asn3528Tyr)
c.10504A>T (p.Asn3502Tyr)
c.10465A>T (p.Asn3489Tyr)
c.10387A>T (p.Asn3463Tyr)
8g.76864297A>CCA371531641ZFHX4c.10583A>C (p.Asn3528Thr)
c.10505A>C (p.Asn3502Thr)
c.10466A>C (p.Asn3489Thr)
c.10388A>C (p.Asn3463Thr)
8g.76864297A>GCA371531642ZFHX4c.10583A>G (p.Asn3528Ser)
c.10505A>G (p.Asn3502Ser)
c.10466A>G (p.Asn3489Ser)
c.10388A>G (p.Asn3463Ser)
8g.76864297A>TCA371531643ZFHX4c.10583A>T (p.Asn3528Ile)
c.10505A>T (p.Asn3502Ile)
c.10466A>T (p.Asn3489Ile)
c.10388A>T (p.Asn3463Ile)
8g.76864297_76864298insAAGGACA2830545184ZFHX4c.10583_10584insAAGGA (p.Asn3528LysfsTer?)
c.10505_10506insAAGGA (p.Asn3502LysfsTer?)
c.10466_10467insAAGGA (p.Asn3489LysfsTer?)
c.10388_10389insAAGGA (p.Asn3463LysfsTer?)
8g.76864298T>ACA371531644ZFHX4c.10584T>A (p.Asn3528Lys)
c.10506T>A (p.Asn3502Lys)
c.10467T>A (p.Asn3489Lys)
c.10389T>A (p.Asn3463Lys)
8g.76864298T>CCA461770814ZFHX4c.10584T>C (p.Asn3528=)
c.10506T>C (p.Asn3502=)
c.10467T>C (p.Asn3489=)
c.10389T>C (p.Asn3463=)
8g.76864298T>GCA371531645ZFHX4c.10584T>G (p.Asn3528Lys)
c.10506T>G (p.Asn3502Lys)
c.10467T>G (p.Asn3489Lys)
c.10389T>G (p.Asn3463Lys)
8g.76864299A>CCA371531646ZFHX4c.10585A>C (p.Ile3529Leu)
c.10507A>C (p.Ile3503Leu)
c.10468A>C (p.Ile3490Leu)
c.10390A>C (p.Ile3464Leu)
8g.76864299A>GCA371531647ZFHX4c.10585A>G (p.Ile3529Val)
c.10507A>G (p.Ile3503Val)
c.10468A>G (p.Ile3490Val)
c.10390A>G (p.Ile3464Val)
8g.76864299A>TCA371531648ZFHX4c.10585A>T (p.Ile3529Phe)
c.10507A>T (p.Ile3503Phe)
c.10468A>T (p.Ile3490Phe)
c.10390A>T (p.Ile3464Phe)
8g.76864300T>ACA371531649ZFHX4c.10586T>A (p.Ile3529Asn)
c.10508T>A (p.Ile3503Asn)
c.10469T>A (p.Ile3490Asn)
c.10391T>A (p.Ile3464Asn)
8g.76864300T>CCA371531650ZFHX4c.10586T>C (p.Ile3529Thr)
c.10508T>C (p.Ile3503Thr)
c.10469T>C (p.Ile3490Thr)
c.10391T>C (p.Ile3464Thr)
8g.76864300T>GCA371531651ZFHX4c.10586T>G (p.Ile3529Ser)
c.10508T>G (p.Ile3503Ser)
c.10469T>G (p.Ile3490Ser)
c.10391T>G (p.Ile3464Ser)
8g.76864301C>ACA461770817ZFHX4c.10587C>A (p.Ile3529=)
c.10509C>A (p.Ile3503=)
c.10470C>A (p.Ile3490=)
c.10392C>A (p.Ile3464=)
8g.76864301C>GCA371531652ZFHX4c.10587C>G (p.Ile3529Met)
c.10509C>G (p.Ile3503Met)
c.10470C>G (p.Ile3490Met)
c.10392C>G (p.Ile3464Met)
gnomAD v4
8g.76864301C>TCA461770820ZFHX4c.10587C>T (p.Ile3529=)
c.10509C>T (p.Ile3503=)
c.10470C>T (p.Ile3490=)
c.10392C>T (p.Ile3464=)
COSMIC COSMIC
8g.76864301_76864302delCA2830545185ZFHX4c.10587_10588del (p.Leu3530PhefsTer?)
c.10509_10510del (p.Leu3504PhefsTer?)
c.10470_10471del (p.Leu3491PhefsTer?)
c.10392_10393del (p.Leu3465PhefsTer?)

Number of alleles fetched