Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71812780_71812781delCA2609585197CDH23c.9523_9524del (p.Arg3175Ter)
c.3456_3457del (n.3456_3457del)
c.3120_3121del (n.3120_3121del)
c.9538_9539del (p.Arg3180Ter)
c.2803_2804del (p.Arg935Ter)
n.3059_3060del
c.214_215del (p.Arg72Ter)
c.9718_9719del (p.Arg3240Ter)
c.9652_9653del (p.Arg3218Ter)
c.9715_9716del (p.Arg3239Ter)
c.9712_9713del (p.Arg3238Ter)
c.9658_9659del (p.Arg3220Ter)
c.9628_9629del (p.Arg3210Ter)
c.9583_9584del (p.Arg3195Ter)
c.9178_9179del (p.Arg3060Ter)
c.8536_8537del (p.Arg2846Ter)
c.6046_6047del (p.Arg2016Ter)
 gnomAD v4
10g.71812779_71812782delinsGCGTCA1918892653CDH23c.9522_9525delinsGCGT (p.Gly3174=)
c.3455_3458delinsGCGT (n.3455_3458delinsGCGT)
c.3119_3122delinsGCGT (n.3119_3122delinsGCGT)
c.9537_9540delinsGCGT (p.Gly3179=)
c.2802_2805delinsGCGT (p.Gly934=)
n.3058_3061delinsGCGT
c.213_216delinsGCGT (p.Gly71=)
c.9717_9720delinsGCGT (p.Gly3239=)
c.9651_9654delinsGCGT (p.Gly3217=)
c.9714_9717delinsGCGT (p.Gly3238=)
c.9711_9714delinsGCGT (p.Gly3237=)
c.9657_9660delinsGCGT (p.Gly3219=)
c.9627_9630delinsGCGT (p.Gly3209=)
c.9582_9585delinsGCGT (p.Gly3194=)
c.9177_9180delinsGCGT (p.Gly3059=)
c.8535_8538delinsGCGT (p.Gly2845=)
c.6045_6048delinsGCGT (p.Gly2015=)
10g.71812780_71812782delCA1139661500CDH23c.9523_9525del (p.Arg3175del)
c.3456_3458del (n.3456_3458del)
c.3120_3122del (n.3120_3122del)
c.9538_9540del (p.Arg3180del)
c.2803_2805del (p.Arg935del)
n.3059_3061del
c.214_216del (p.Arg72del)
c.9718_9720del (p.Arg3240del)
c.9652_9654del (p.Arg3218del)
c.9715_9717del (p.Arg3239del)
c.9712_9714del (p.Arg3238del)
c.9658_9660del (p.Arg3220del)
c.9628_9630del (p.Arg3210del)
c.9583_9585del (p.Arg3195del)
c.9178_9180del (p.Arg3060del)
c.8536_8538del (p.Arg2846del)
c.6046_6048del (p.Arg2016del)
 ClinVar dbSNP
10g.71812780_71812782delinsCGTCA1918892660CDH23c.9523_9525delinsCGT (p.Arg3175=)
c.3456_3458delinsCGT (n.3456_3458delinsCGT)
c.3120_3122delinsCGT (n.3120_3122delinsCGT)
c.9538_9540delinsCGT (p.Arg3180=)
c.2803_2805delinsCGT (p.Arg935=)
n.3059_3061delinsCGT
c.214_216delinsCGT (p.Arg72=)
c.9718_9720delinsCGT (p.Arg3240=)
c.9652_9654delinsCGT (p.Arg3218=)
c.9715_9717delinsCGT (p.Arg3239=)
c.9712_9714delinsCGT (p.Arg3238=)
c.9658_9660delinsCGT (p.Arg3220=)
c.9628_9630delinsCGT (p.Arg3210=)
c.9583_9585delinsCGT (p.Arg3195=)
c.9178_9180delinsCGT (p.Arg3060=)
c.8536_8538delinsCGT (p.Arg2846=)
c.6046_6048delinsCGT (p.Arg2016=)
10g.71812781G>ACA246988CDH23c.9524G>A (p.Arg3175His)
c.3457G>A (n.3457G>A)
c.3121G>A (n.3121G>A)
c.9539G>A (p.Arg3180His)
c.2804G>A (p.Arg935His)
n.3060G>A
c.215G>A (p.Arg72His)
c.9719G>A (p.Arg3240His)
c.9653G>A (p.Arg3218His)
c.9716G>A (p.Arg3239His)
c.9713G>A (p.Arg3238His)
c.9659G>A (p.Arg3220His)
c.9629G>A (p.Arg3210His)
c.9584G>A (p.Arg3195His)
c.9179G>A (p.Arg3060His)
c.8537G>A (p.Arg2846His)
c.6047G>A (p.Arg2016His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71812781G>CCA377136959CDH23c.9524G>C (p.Arg3175Pro)
c.3457G>C (n.3457G>C)
c.3121G>C (n.3121G>C)
c.9539G>C (p.Arg3180Pro)
c.2804G>C (p.Arg935Pro)
n.3060G>C
c.215G>C (p.Arg72Pro)
c.9719G>C (p.Arg3240Pro)
c.9653G>C (p.Arg3218Pro)
c.9716G>C (p.Arg3239Pro)
c.9713G>C (p.Arg3238Pro)
c.9659G>C (p.Arg3220Pro)
c.9629G>C (p.Arg3210Pro)
c.9584G>C (p.Arg3195Pro)
c.9179G>C (p.Arg3060Pro)
c.8537G>C (p.Arg2846Pro)
c.6047G>C (p.Arg2016Pro)
10g.71812781G=CA1918892665CDH23c.9524G= (p.Arg3175=)
c.3457G= (n.3457G=)
c.3121G= (n.3121G=)
c.9539G= (p.Arg3180=)
c.2804G= (p.Arg935=)
n.3060G=
c.215G= (p.Arg72=)
c.9719G= (p.Arg3240=)
c.9653G= (p.Arg3218=)
c.9716G= (p.Arg3239=)
c.9713G= (p.Arg3238=)
c.9659G= (p.Arg3220=)
c.9629G= (p.Arg3210=)
c.9584G= (p.Arg3195=)
c.9179G= (p.Arg3060=)
c.8537G= (p.Arg2846=)
c.6047G= (p.Arg2016=)
10g.71812781G>TCA377136960CDH23c.9524G>T (p.Arg3175Leu)
c.3457G>T (n.3457G>T)
c.3121G>T (n.3121G>T)
c.9539G>T (p.Arg3180Leu)
c.2804G>T (p.Arg935Leu)
n.3060G>T
c.215G>T (p.Arg72Leu)
c.9719G>T (p.Arg3240Leu)
c.9653G>T (p.Arg3218Leu)
c.9716G>T (p.Arg3239Leu)
c.9713G>T (p.Arg3238Leu)
c.9659G>T (p.Arg3220Leu)
c.9629G>T (p.Arg3210Leu)
c.9584G>T (p.Arg3195Leu)
c.9179G>T (p.Arg3060Leu)
c.8537G>T (p.Arg2846Leu)
c.6047G>T (p.Arg2016Leu)
 gnomAD v4
10g.71812782_71812783delCA916083145CDH23c.9525_9526del (p.Glu3176AlafsTer7)
c.3458_3459del (n.3458_3459del)
c.3122_3123del (n.3122_3123del)
c.9540_9541del (p.Glu3181AlafsTer7)
c.2805_2806del (p.Glu936AlafsTer7)
n.3061_3062del
c.216_217del (p.Glu73AlafsTer7)
c.9720_9721del (p.Glu3241AlafsTer7)
c.9654_9655del (p.Glu3219AlafsTer7)
c.9717_9718del (p.Glu3240AlafsTer7)
c.9714_9715del (p.Glu3239AlafsTer7)
c.9660_9661del (p.Glu3221AlafsTer7)
c.9630_9631del (p.Glu3211AlafsTer7)
c.9585_9586del (p.Glu3196AlafsTer7)
c.9180_9181del (p.Glu3061AlafsTer7)
c.8538_8539del (p.Glu2847AlafsTer7)
c.6048_6049del (p.Glu2017AlafsTer7)
 ClinVar dbSNP
10g.71812782T>ACA470282776CDH23c.9525T>A (p.Arg3175=)
c.3458T>A (n.3458T>A)
c.3122T>A (n.3122T>A)
c.9540T>A (p.Arg3180=)
c.2805T>A (p.Arg935=)
n.3061T>A
c.216T>A (p.Arg72=)
c.9720T>A (p.Arg3240=)
c.9654T>A (p.Arg3218=)
c.9717T>A (p.Arg3239=)
c.9714T>A (p.Arg3238=)
c.9660T>A (p.Arg3220=)
c.9630T>A (p.Arg3210=)
c.9585T>A (p.Arg3195=)
c.9180T>A (p.Arg3060=)
c.8538T>A (p.Arg2846=)
c.6048T>A (p.Arg2016=)
10g.71812782T>CCA5547121CDH23c.9525T>C (p.Arg3175=)
c.3458T>C (n.3458T>C)
c.3122T>C (n.3122T>C)
c.9540T>C (p.Arg3180=)
c.2805T>C (p.Arg935=)
n.3061T>C
c.216T>C (p.Arg72=)
c.9720T>C (p.Arg3240=)
c.9654T>C (p.Arg3218=)
c.9717T>C (p.Arg3239=)
c.9714T>C (p.Arg3238=)
c.9660T>C (p.Arg3220=)
c.9630T>C (p.Arg3210=)
c.9585T>C (p.Arg3195=)
c.9180T>C (p.Arg3060=)
c.8538T>C (p.Arg2846=)
c.6048T>C (p.Arg2016=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71812782T>GCA470282777CDH23c.9525T>G (p.Arg3175=)
c.3458T>G (n.3458T>G)
c.3122T>G (n.3122T>G)
c.9540T>G (p.Arg3180=)
c.2805T>G (p.Arg935=)
n.3061T>G
c.216T>G (p.Arg72=)
c.9720T>G (p.Arg3240=)
c.9654T>G (p.Arg3218=)
c.9717T>G (p.Arg3239=)
c.9714T>G (p.Arg3238=)
c.9660T>G (p.Arg3220=)
c.9630T>G (p.Arg3210=)
c.9585T>G (p.Arg3195=)
c.9180T>G (p.Arg3060=)
c.8538T>G (p.Arg2846=)
c.6048T>G (p.Arg2016=)
 dbSNP
10g.71812782T=CA1918892676CDH23c.9525T= (p.Arg3175=)
c.3458T= (n.3458T=)
c.3122T= (n.3122T=)
c.9540T= (p.Arg3180=)
c.2805T= (p.Arg935=)
n.3061T=
c.216T= (p.Arg72=)
c.9720T= (p.Arg3240=)
c.9654T= (p.Arg3218=)
c.9717T= (p.Arg3239=)
c.9714T= (p.Arg3238=)
c.9660T= (p.Arg3220=)
c.9630T= (p.Arg3210=)
c.9585T= (p.Arg3195=)
c.9180T= (p.Arg3060=)
c.8538T= (p.Arg2846=)
c.6048T= (p.Arg2016=)
10g.71812782dupCA916083146CDH23c.9525dup (p.Glu3176Ter)
c.3458dup (n.3458dup)
c.3122dup (n.3122dup)
c.9540dup (p.Glu3181Ter)
c.2805dup (p.Glu936Ter)
n.3061dup
c.216dup (p.Glu73Ter)
c.9720dup (p.Glu3241Ter)
c.9654dup (p.Glu3219Ter)
c.9717dup (p.Glu3240Ter)
c.9714dup (p.Glu3239Ter)
c.9660dup (p.Glu3221Ter)
c.9630dup (p.Glu3211Ter)
c.9585dup (p.Glu3196Ter)
c.9180dup (p.Glu3061Ter)
c.8538dup (p.Glu2847Ter)
c.6048dup (p.Glu2017Ter)
 ClinVar dbSNP
10g.71812782_71812783insTACA2609585236CDH23c.9525_9526insTA (p.Glu3176Ter)
c.3458_3459insTA (n.3458_3459insTA)
c.3122_3123insTA (n.3122_3123insTA)
c.9540_9541insTA (p.Glu3181Ter)
c.2805_2806insTA (p.Glu936Ter)
n.3061_3062insTA
c.216_217insTA (p.Glu73Ter)
c.9720_9721insTA (p.Glu3241Ter)
c.9654_9655insTA (p.Glu3219Ter)
c.9717_9718insTA (p.Glu3240Ter)
c.9714_9715insTA (p.Glu3239Ter)
c.9660_9661insTA (p.Glu3221Ter)
c.9630_9631insTA (p.Glu3211Ter)
c.9585_9586insTA (p.Glu3196Ter)
c.9180_9181insTA (p.Glu3061Ter)
c.8538_8539insTA (p.Glu2847Ter)
c.6048_6049insTA (p.Glu2017Ter)
 gnomAD v4
10g.71812783G>ACA5547122CDH23c.9526G>A (p.Glu3176Lys)
c.3459G>A (n.3459G>A)
c.3123G>A (n.3123G>A)
c.9541G>A (p.Glu3181Lys)
c.2806G>A (p.Glu936Lys)
n.3062G>A
c.217G>A (p.Glu73Lys)
c.9721G>A (p.Glu3241Lys)
c.9655G>A (p.Glu3219Lys)
c.9718G>A (p.Glu3240Lys)
c.9715G>A (p.Glu3239Lys)
c.9661G>A (p.Glu3221Lys)
c.9631G>A (p.Glu3211Lys)
c.9586G>A (p.Glu3196Lys)
c.9181G>A (p.Glu3061Lys)
c.8539G>A (p.Glu2847Lys)
c.6049G>A (p.Glu2017Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71812783G>CCA377136961CDH23c.9526G>C (p.Glu3176Gln)
c.3459G>C (n.3459G>C)
c.3123G>C (n.3123G>C)
c.9541G>C (p.Glu3181Gln)
c.2806G>C (p.Glu936Gln)
n.3062G>C
c.217G>C (p.Glu73Gln)
c.9721G>C (p.Glu3241Gln)
c.9655G>C (p.Glu3219Gln)
c.9718G>C (p.Glu3240Gln)
c.9715G>C (p.Glu3239Gln)
c.9661G>C (p.Glu3221Gln)
c.9631G>C (p.Glu3211Gln)
c.9586G>C (p.Glu3196Gln)
c.9181G>C (p.Glu3061Gln)
c.8539G>C (p.Glu2847Gln)
c.6049G>C (p.Glu2017Gln)
 gnomAD v4 COSMIC
10g.71812783G=CA1918892680CDH23c.9526G= (p.Glu3176=)
c.3459G= (n.3459G=)
c.3123G= (n.3123G=)
c.9541G= (p.Glu3181=)
c.2806G= (p.Glu936=)
n.3062G=
c.217G= (p.Glu73=)
c.9721G= (p.Glu3241=)
c.9655G= (p.Glu3219=)
c.9718G= (p.Glu3240=)
c.9715G= (p.Glu3239=)
c.9661G= (p.Glu3221=)
c.9631G= (p.Glu3211=)
c.9586G= (p.Glu3196=)
c.9181G= (p.Glu3061=)
c.8539G= (p.Glu2847=)
c.6049G= (p.Glu2017=)
10g.71812783G>TCA377136962CDH23c.9526G>T (p.Glu3176Ter)
c.3459G>T (n.3459G>T)
c.3123G>T (n.3123G>T)
c.9541G>T (p.Glu3181Ter)
c.2806G>T (p.Glu936Ter)
n.3062G>T
c.217G>T (p.Glu73Ter)
c.9721G>T (p.Glu3241Ter)
c.9655G>T (p.Glu3219Ter)
c.9718G>T (p.Glu3240Ter)
c.9715G>T (p.Glu3239Ter)
c.9661G>T (p.Glu3221Ter)
c.9631G>T (p.Glu3211Ter)
c.9586G>T (p.Glu3196Ter)
c.9181G>T (p.Glu3061Ter)
c.8539G>T (p.Glu2847Ter)
c.6049G>T (p.Glu2017Ter)
10g.71812784A>CCA377136965CDH23c.9527A>C (p.Glu3176Ala)
c.3460A>C (n.3460A>C)
c.3124A>C (n.3124A>C)
c.9542A>C (p.Glu3181Ala)
c.2807A>C (p.Glu936Ala)
n.3063A>C
c.218A>C (p.Glu73Ala)
c.9722A>C (p.Glu3241Ala)
c.9656A>C (p.Glu3219Ala)
c.9719A>C (p.Glu3240Ala)
c.9716A>C (p.Glu3239Ala)
c.9662A>C (p.Glu3221Ala)
c.9632A>C (p.Glu3211Ala)
c.9587A>C (p.Glu3196Ala)
c.9182A>C (p.Glu3061Ala)
c.8540A>C (p.Glu2847Ala)
c.6050A>C (p.Glu2017Ala)
10g.71812784A>GCA377136963CDH23c.9527A>G (p.Glu3176Gly)
c.3460A>G (n.3460A>G)
c.3124A>G (n.3124A>G)
c.9542A>G (p.Glu3181Gly)
c.2807A>G (p.Glu936Gly)
n.3063A>G
c.218A>G (p.Glu73Gly)
c.9722A>G (p.Glu3241Gly)
c.9656A>G (p.Glu3219Gly)
c.9719A>G (p.Glu3240Gly)
c.9716A>G (p.Glu3239Gly)
c.9662A>G (p.Glu3221Gly)
c.9632A>G (p.Glu3211Gly)
c.9587A>G (p.Glu3196Gly)
c.9182A>G (p.Glu3061Gly)
c.8540A>G (p.Glu2847Gly)
c.6050A>G (p.Glu2017Gly)
10g.71812784A>TCA377136964CDH23c.9527A>T (p.Glu3176Val)
c.3460A>T (n.3460A>T)
c.3124A>T (n.3124A>T)
c.9542A>T (p.Glu3181Val)
c.2807A>T (p.Glu936Val)
n.3063A>T
c.218A>T (p.Glu73Val)
c.9722A>T (p.Glu3241Val)
c.9656A>T (p.Glu3219Val)
c.9719A>T (p.Glu3240Val)
c.9716A>T (p.Glu3239Val)
c.9662A>T (p.Glu3221Val)
c.9632A>T (p.Glu3211Val)
c.9587A>T (p.Glu3196Val)
c.9182A>T (p.Glu3061Val)
c.8540A>T (p.Glu2847Val)
c.6050A>T (p.Glu2017Val)
10g.71812785G>ACA470282784CDH23c.9528G>A (p.Glu3176=)
c.3461G>A (n.3461G>A)
c.3125G>A (n.3125G>A)
c.9543G>A (p.Glu3181=)
c.2808G>A (p.Glu936=)
n.3064G>A
c.219G>A (p.Glu73=)
c.9723G>A (p.Glu3241=)
c.9657G>A (p.Glu3219=)
c.9720G>A (p.Glu3240=)
c.9717G>A (p.Glu3239=)
c.9663G>A (p.Glu3221=)
c.9633G>A (p.Glu3211=)
c.9588G>A (p.Glu3196=)
c.9183G>A (p.Glu3061=)
c.8541G>A (p.Glu2847=)
c.6051G>A (p.Glu2017=)
 gnomAD v4
10g.71812785G>CCA377136966CDH23c.9528G>C (p.Glu3176Asp)
c.3461G>C (n.3461G>C)
c.3125G>C (n.3125G>C)
c.9543G>C (p.Glu3181Asp)
c.2808G>C (p.Glu936Asp)
n.3064G>C
c.219G>C (p.Glu73Asp)
c.9723G>C (p.Glu3241Asp)
c.9657G>C (p.Glu3219Asp)
c.9720G>C (p.Glu3240Asp)
c.9717G>C (p.Glu3239Asp)
c.9663G>C (p.Glu3221Asp)
c.9633G>C (p.Glu3211Asp)
c.9588G>C (p.Glu3196Asp)
c.9183G>C (p.Glu3061Asp)
c.8541G>C (p.Glu2847Asp)
c.6051G>C (p.Glu2017Asp)
10g.71812785G>TCA377136967CDH23c.9528G>T (p.Glu3176Asp)
c.3461G>T (n.3461G>T)
c.3125G>T (n.3125G>T)
c.9543G>T (p.Glu3181Asp)
c.2808G>T (p.Glu936Asp)
n.3064G>T
c.219G>T (p.Glu73Asp)
c.9723G>T (p.Glu3241Asp)
c.9657G>T (p.Glu3219Asp)
c.9720G>T (p.Glu3240Asp)
c.9717G>T (p.Glu3239Asp)
c.9663G>T (p.Glu3221Asp)
c.9633G>T (p.Glu3211Asp)
c.9588G>T (p.Glu3196Asp)
c.9183G>T (p.Glu3061Asp)
c.8541G>T (p.Glu2847Asp)
c.6051G>T (p.Glu2017Asp)
10g.71812786C>ACA377136968CDH23c.9529C>A (p.Pro3177Thr)
c.3462C>A (n.3462C>A)
c.3126C>A (n.3126C>A)
c.9544C>A (p.Pro3182Thr)
c.2809C>A (p.Pro937Thr)
n.3065C>A
c.220C>A (p.Pro74Thr)
c.9724C>A (p.Pro3242Thr)
c.9658C>A (p.Pro3220Thr)
c.9721C>A (p.Pro3241Thr)
c.9718C>A (p.Pro3240Thr)
c.9664C>A (p.Pro3222Thr)
c.9634C>A (p.Pro3212Thr)
c.9589C>A (p.Pro3197Thr)
c.9184C>A (p.Pro3062Thr)
c.8542C>A (p.Pro2848Thr)
c.6052C>A (p.Pro2018Thr)
10g.71812786C>GCA377136969CDH23c.9529C>G (p.Pro3177Ala)
c.3462C>G (n.3462C>G)
c.3126C>G (n.3126C>G)
c.9544C>G (p.Pro3182Ala)
c.2809C>G (p.Pro937Ala)
n.3065C>G
c.220C>G (p.Pro74Ala)
c.9724C>G (p.Pro3242Ala)
c.9658C>G (p.Pro3220Ala)
c.9721C>G (p.Pro3241Ala)
c.9718C>G (p.Pro3240Ala)
c.9664C>G (p.Pro3222Ala)
c.9634C>G (p.Pro3212Ala)
c.9589C>G (p.Pro3197Ala)
c.9184C>G (p.Pro3062Ala)
c.8542C>G (p.Pro2848Ala)
c.6052C>G (p.Pro2018Ala)
10g.71812786C>TCA377136970CDH23c.9529C>T (p.Pro3177Ser)
c.3462C>T (n.3462C>T)
c.3126C>T (n.3126C>T)
c.9544C>T (p.Pro3182Ser)
c.2809C>T (p.Pro937Ser)
n.3065C>T
c.220C>T (p.Pro74Ser)
c.9724C>T (p.Pro3242Ser)
c.9658C>T (p.Pro3220Ser)
c.9721C>T (p.Pro3241Ser)
c.9718C>T (p.Pro3240Ser)
c.9664C>T (p.Pro3222Ser)
c.9634C>T (p.Pro3212Ser)
c.9589C>T (p.Pro3197Ser)
c.9184C>T (p.Pro3062Ser)
c.8542C>T (p.Pro2848Ser)
c.6052C>T (p.Pro2018Ser)
 COSMIC
10g.71812787C>ACA377136971CDH23c.9530C>A (p.Pro3177Gln)
c.3463C>A (n.3463C>A)
c.3127C>A (n.3127C>A)
c.9545C>A (p.Pro3182Gln)
c.2810C>A (p.Pro937Gln)
n.3066C>A
c.221C>A (p.Pro74Gln)
c.9725C>A (p.Pro3242Gln)
c.9659C>A (p.Pro3220Gln)
c.9722C>A (p.Pro3241Gln)
c.9719C>A (p.Pro3240Gln)
c.9665C>A (p.Pro3222Gln)
c.9635C>A (p.Pro3212Gln)
c.9590C>A (p.Pro3197Gln)
c.9185C>A (p.Pro3062Gln)
c.8543C>A (p.Pro2848Gln)
c.6053C>A (p.Pro2018Gln)
10g.71812787C>GCA377136973CDH23c.9530C>G (p.Pro3177Arg)
c.3463C>G (n.3463C>G)
c.3127C>G (n.3127C>G)
c.9545C>G (p.Pro3182Arg)
c.2810C>G (p.Pro937Arg)
n.3066C>G
c.221C>G (p.Pro74Arg)
c.9725C>G (p.Pro3242Arg)
c.9659C>G (p.Pro3220Arg)
c.9722C>G (p.Pro3241Arg)
c.9719C>G (p.Pro3240Arg)
c.9665C>G (p.Pro3222Arg)
c.9635C>G (p.Pro3212Arg)
c.9590C>G (p.Pro3197Arg)
c.9185C>G (p.Pro3062Arg)
c.8543C>G (p.Pro2848Arg)
c.6053C>G (p.Pro2018Arg)
10g.71812787C>TCA377136972CDH23c.9530C>T (p.Pro3177Leu)
c.3463C>T (n.3463C>T)
c.3127C>T (n.3127C>T)
c.9545C>T (p.Pro3182Leu)
c.2810C>T (p.Pro937Leu)
n.3066C>T
c.221C>T (p.Pro74Leu)
c.9725C>T (p.Pro3242Leu)
c.9659C>T (p.Pro3220Leu)
c.9722C>T (p.Pro3241Leu)
c.9719C>T (p.Pro3240Leu)
c.9665C>T (p.Pro3222Leu)
c.9635C>T (p.Pro3212Leu)
c.9590C>T (p.Pro3197Leu)
c.9185C>T (p.Pro3062Leu)
c.8543C>T (p.Pro2848Leu)
c.6053C>T (p.Pro2018Leu)
 gnomAD v4
10g.71812788A>CCA470282792CDH23c.9531A>C (p.Pro3177=)
c.3464A>C (n.3464A>C)
c.3128A>C (n.3128A>C)
c.9546A>C (p.Pro3182=)
c.2811A>C (p.Pro937=)
n.3067A>C
c.222A>C (p.Pro74=)
c.9726A>C (p.Pro3242=)
c.9660A>C (p.Pro3220=)
c.9723A>C (p.Pro3241=)
c.9720A>C (p.Pro3240=)
c.9666A>C (p.Pro3222=)
c.9636A>C (p.Pro3212=)
c.9591A>C (p.Pro3197=)
c.9186A>C (p.Pro3062=)
c.8544A>C (p.Pro2848=)
c.6054A>C (p.Pro2018=)
10g.71812788A>GCA470282793CDH23c.9531A>G (p.Pro3177=)
c.3464A>G (n.3464A>G)
c.3128A>G (n.3128A>G)
c.9546A>G (p.Pro3182=)
c.2811A>G (p.Pro937=)
n.3067A>G
c.222A>G (p.Pro74=)
c.9726A>G (p.Pro3242=)
c.9660A>G (p.Pro3220=)
c.9723A>G (p.Pro3241=)
c.9720A>G (p.Pro3240=)
c.9666A>G (p.Pro3222=)
c.9636A>G (p.Pro3212=)
c.9591A>G (p.Pro3197=)
c.9186A>G (p.Pro3062=)
c.8544A>G (p.Pro2848=)
c.6054A>G (p.Pro2018=)
 gnomAD v4
10g.71812788A>TCA470282794CDH23c.9531A>T (p.Pro3177=)
c.3464A>T (n.3464A>T)
c.3128A>T (n.3128A>T)
c.9546A>T (p.Pro3182=)
c.2811A>T (p.Pro937=)
n.3067A>T
c.222A>T (p.Pro74=)
c.9726A>T (p.Pro3242=)
c.9660A>T (p.Pro3220=)
c.9723A>T (p.Pro3241=)
c.9720A>T (p.Pro3240=)
c.9666A>T (p.Pro3222=)
c.9636A>T (p.Pro3212=)
c.9591A>T (p.Pro3197=)
c.9186A>T (p.Pro3062=)
c.8544A>T (p.Pro2848=)
c.6054A>T (p.Pro2018=)
10g.71812789G>ACA377136974CDH23c.9532G>A (p.Ala3178Thr)
c.3465G>A (n.3465G>A)
c.3129G>A (n.3129G>A)
c.9547G>A (p.Ala3183Thr)
c.2812G>A (p.Ala938Thr)
n.3068G>A
c.223G>A (p.Ala75Thr)
c.9727G>A (p.Ala3243Thr)
c.9661G>A (p.Ala3221Thr)
c.9724G>A (p.Ala3242Thr)
c.9721G>A (p.Ala3241Thr)
c.9667G>A (p.Ala3223Thr)
c.9637G>A (p.Ala3213Thr)
c.9592G>A (p.Ala3198Thr)
c.9187G>A (p.Ala3063Thr)
c.8545G>A (p.Ala2849Thr)
c.6055G>A (p.Ala2019Thr)
 dbSNP
10g.71812789G>CCA377136975CDH23c.9532G>C (p.Ala3178Pro)
c.3465G>C (n.3465G>C)
c.3129G>C (n.3129G>C)
c.9547G>C (p.Ala3183Pro)
c.2812G>C (p.Ala938Pro)
n.3068G>C
c.223G>C (p.Ala75Pro)
c.9727G>C (p.Ala3243Pro)
c.9661G>C (p.Ala3221Pro)
c.9724G>C (p.Ala3242Pro)
c.9721G>C (p.Ala3241Pro)
c.9667G>C (p.Ala3223Pro)
c.9637G>C (p.Ala3213Pro)
c.9592G>C (p.Ala3198Pro)
c.9187G>C (p.Ala3063Pro)
c.8545G>C (p.Ala2849Pro)
c.6055G>C (p.Ala2019Pro)
10g.71812789G=CA1918892682CDH23c.9532G= (p.Ala3178=)
c.3465G= (n.3465G=)
c.3129G= (n.3129G=)
c.9547G= (p.Ala3183=)
c.2812G= (p.Ala938=)
n.3068G=
c.223G= (p.Ala75=)
c.9727G= (p.Ala3243=)
c.9661G= (p.Ala3221=)
c.9724G= (p.Ala3242=)
c.9721G= (p.Ala3241=)
c.9667G= (p.Ala3223=)
c.9637G= (p.Ala3213=)
c.9592G= (p.Ala3198=)
c.9187G= (p.Ala3063=)
c.8545G= (p.Ala2849=)
c.6055G= (p.Ala2019=)
10g.71812789G>TCA377136976CDH23c.9532G>T (p.Ala3178Ser)
c.3465G>T (n.3465G>T)
c.3129G>T (n.3129G>T)
c.9547G>T (p.Ala3183Ser)
c.2812G>T (p.Ala938Ser)
n.3068G>T
c.223G>T (p.Ala75Ser)
c.9727G>T (p.Ala3243Ser)
c.9661G>T (p.Ala3221Ser)
c.9724G>T (p.Ala3242Ser)
c.9721G>T (p.Ala3241Ser)
c.9667G>T (p.Ala3223Ser)
c.9637G>T (p.Ala3213Ser)
c.9592G>T (p.Ala3198Ser)
c.9187G>T (p.Ala3063Ser)
c.8545G>T (p.Ala2849Ser)
c.6055G>T (p.Ala2019Ser)
10g.71812790C>ACA377136977CDH23c.9533C>A (p.Ala3178Glu)
c.3466C>A (n.3466C>A)
c.3130C>A (n.3130C>A)
c.9548C>A (p.Ala3183Glu)
c.2813C>A (p.Ala938Glu)
n.3069C>A
c.224C>A (p.Ala75Glu)
c.9728C>A (p.Ala3243Glu)
c.9662C>A (p.Ala3221Glu)
c.9725C>A (p.Ala3242Glu)
c.9722C>A (p.Ala3241Glu)
c.9668C>A (p.Ala3223Glu)
c.9638C>A (p.Ala3213Glu)
c.9593C>A (p.Ala3198Glu)
c.9188C>A (p.Ala3063Glu)
c.8546C>A (p.Ala2849Glu)
c.6056C>A (p.Ala2019Glu)
10g.71812790C>GCA377136978CDH23c.9533C>G (p.Ala3178Gly)
c.3466C>G (n.3466C>G)
c.3130C>G (n.3130C>G)
c.9548C>G (p.Ala3183Gly)
c.2813C>G (p.Ala938Gly)
n.3069C>G
c.224C>G (p.Ala75Gly)
c.9728C>G (p.Ala3243Gly)
c.9662C>G (p.Ala3221Gly)
c.9725C>G (p.Ala3242Gly)
c.9722C>G (p.Ala3241Gly)
c.9668C>G (p.Ala3223Gly)
c.9638C>G (p.Ala3213Gly)
c.9593C>G (p.Ala3198Gly)
c.9188C>G (p.Ala3063Gly)
c.8546C>G (p.Ala2849Gly)
c.6056C>G (p.Ala2019Gly)
10g.71812790C>TCA377136979CDH23c.9533C>T (p.Ala3178Val)
c.3466C>T (n.3466C>T)
c.3130C>T (n.3130C>T)
c.9548C>T (p.Ala3183Val)
c.2813C>T (p.Ala938Val)
n.3069C>T
c.224C>T (p.Ala75Val)
c.9728C>T (p.Ala3243Val)
c.9662C>T (p.Ala3221Val)
c.9725C>T (p.Ala3242Val)
c.9722C>T (p.Ala3241Val)
c.9668C>T (p.Ala3223Val)
c.9638C>T (p.Ala3213Val)
c.9593C>T (p.Ala3198Val)
c.9188C>T (p.Ala3063Val)
c.8546C>T (p.Ala2849Val)
c.6056C>T (p.Ala2019Val)
10g.71812791A>CCA470282799CDH23c.9534A>C (p.Ala3178=)
c.3467A>C (n.3467A>C)
c.3131A>C (n.3131A>C)
c.9549A>C (p.Ala3183=)
c.2814A>C (p.Ala938=)
n.3070A>C
c.225A>C (p.Ala75=)
c.9729A>C (p.Ala3243=)
c.9663A>C (p.Ala3221=)
c.9726A>C (p.Ala3242=)
c.9723A>C (p.Ala3241=)
c.9669A>C (p.Ala3223=)
c.9639A>C (p.Ala3213=)
c.9594A>C (p.Ala3198=)
c.9189A>C (p.Ala3063=)
c.8547A>C (p.Ala2849=)
c.6057A>C (p.Ala2019=)
10g.71812791A>GCA470282796CDH23c.9534A>G (p.Ala3178=)
c.3467A>G (n.3467A>G)
c.3131A>G (n.3131A>G)
c.9549A>G (p.Ala3183=)
c.2814A>G (p.Ala938=)
n.3070A>G
c.225A>G (p.Ala75=)
c.9729A>G (p.Ala3243=)
c.9663A>G (p.Ala3221=)
c.9726A>G (p.Ala3242=)
c.9723A>G (p.Ala3241=)
c.9669A>G (p.Ala3223=)
c.9639A>G (p.Ala3213=)
c.9594A>G (p.Ala3198=)
c.9189A>G (p.Ala3063=)
c.8547A>G (p.Ala2849=)
c.6057A>G (p.Ala2019=)
10g.71812791A>TCA470282798CDH23c.9534A>T (p.Ala3178=)
c.3467A>T (n.3467A>T)
c.3131A>T (n.3131A>T)
c.9549A>T (p.Ala3183=)
c.2814A>T (p.Ala938=)
n.3070A>T
c.225A>T (p.Ala75=)
c.9729A>T (p.Ala3243=)
c.9663A>T (p.Ala3221=)
c.9726A>T (p.Ala3242=)
c.9723A>T (p.Ala3241=)
c.9669A>T (p.Ala3223=)
c.9639A>T (p.Ala3213=)
c.9594A>T (p.Ala3198=)
c.9189A>T (p.Ala3063=)
c.8547A>T (p.Ala2849=)
c.6057A>T (p.Ala2019=)
10g.71812792G>ACA377136980CDH23c.9535G>A (p.Ala3179Thr)
c.3468G>A (n.3468G>A)
c.3132G>A (n.3132G>A)
c.9550G>A (p.Ala3184Thr)
c.2815G>A (p.Ala939Thr)
n.3071G>A
c.226G>A (p.Ala76Thr)
c.9730G>A (p.Ala3244Thr)
c.9664G>A (p.Ala3222Thr)
c.9727G>A (p.Ala3243Thr)
c.9724G>A (p.Ala3242Thr)
c.9670G>A (p.Ala3224Thr)
c.9640G>A (p.Ala3214Thr)
c.9595G>A (p.Ala3199Thr)
c.9190G>A (p.Ala3064Thr)
c.8548G>A (p.Ala2850Thr)
c.6058G>A (p.Ala2020Thr)
 gnomAD v4
10g.71812792G>CCA377136981CDH23c.9535G>C (p.Ala3179Pro)
c.3468G>C (n.3468G>C)
c.3132G>C (n.3132G>C)
c.9550G>C (p.Ala3184Pro)
c.2815G>C (p.Ala939Pro)
n.3071G>C
c.226G>C (p.Ala76Pro)
c.9730G>C (p.Ala3244Pro)
c.9664G>C (p.Ala3222Pro)
c.9727G>C (p.Ala3243Pro)
c.9724G>C (p.Ala3242Pro)
c.9670G>C (p.Ala3224Pro)
c.9640G>C (p.Ala3214Pro)
c.9595G>C (p.Ala3199Pro)
c.9190G>C (p.Ala3064Pro)
c.8548G>C (p.Ala2850Pro)
c.6058G>C (p.Ala2020Pro)
10g.71812792G>TCA377136982CDH23c.9535G>T (p.Ala3179Ser)
c.3468G>T (n.3468G>T)
c.3132G>T (n.3132G>T)
c.9550G>T (p.Ala3184Ser)
c.2815G>T (p.Ala939Ser)
n.3071G>T
c.226G>T (p.Ala76Ser)
c.9730G>T (p.Ala3244Ser)
c.9664G>T (p.Ala3222Ser)
c.9727G>T (p.Ala3243Ser)
c.9724G>T (p.Ala3242Ser)
c.9670G>T (p.Ala3224Ser)
c.9640G>T (p.Ala3214Ser)
c.9595G>T (p.Ala3199Ser)
c.9190G>T (p.Ala3064Ser)
c.8548G>T (p.Ala2850Ser)
c.6058G>T (p.Ala2020Ser)
10g.71812793C>ACA377136983CDH23c.9536C>A (p.Ala3179Asp)
c.3469C>A (n.3469C>A)
c.3133C>A (n.3133C>A)
c.9551C>A (p.Ala3184Asp)
c.2816C>A (p.Ala939Asp)
n.3072C>A
c.227C>A (p.Ala76Asp)
c.9731C>A (p.Ala3244Asp)
c.9665C>A (p.Ala3222Asp)
c.9728C>A (p.Ala3243Asp)
c.9725C>A (p.Ala3242Asp)
c.9671C>A (p.Ala3224Asp)
c.9641C>A (p.Ala3214Asp)
c.9596C>A (p.Ala3199Asp)
c.9191C>A (p.Ala3064Asp)
c.8549C>A (p.Ala2850Asp)
c.6059C>A (p.Ala2020Asp)
10g.71812793C=CA1918892684CDH23c.9536C= (p.Ala3179=)
c.3469C= (n.3469C=)
c.3133C= (n.3133C=)
c.9551C= (p.Ala3184=)
c.2816C= (p.Ala939=)
n.3072C=
c.227C= (p.Ala76=)
c.9731C= (p.Ala3244=)
c.9665C= (p.Ala3222=)
c.9728C= (p.Ala3243=)
c.9725C= (p.Ala3242=)
c.9671C= (p.Ala3224=)
c.9641C= (p.Ala3214=)
c.9596C= (p.Ala3199=)
c.9191C= (p.Ala3064=)
c.8549C= (p.Ala2850=)
c.6059C= (p.Ala2020=)
10g.71812793C>GCA377136984CDH23c.9536C>G (p.Ala3179Gly)
c.3469C>G (n.3469C>G)
c.3133C>G (n.3133C>G)
c.9551C>G (p.Ala3184Gly)
c.2816C>G (p.Ala939Gly)
n.3072C>G
c.227C>G (p.Ala76Gly)
c.9731C>G (p.Ala3244Gly)
c.9665C>G (p.Ala3222Gly)
c.9728C>G (p.Ala3243Gly)
c.9725C>G (p.Ala3242Gly)
c.9671C>G (p.Ala3224Gly)
c.9641C>G (p.Ala3214Gly)
c.9596C>G (p.Ala3199Gly)
c.9191C>G (p.Ala3064Gly)
c.8549C>G (p.Ala2850Gly)
c.6059C>G (p.Ala2020Gly)
10g.71812793C>TCA377136985CDH23c.9536C>T (p.Ala3179Val)
c.3469C>T (n.3469C>T)
c.3133C>T (n.3133C>T)
c.9551C>T (p.Ala3184Val)
c.2816C>T (p.Ala939Val)
n.3072C>T
c.227C>T (p.Ala76Val)
c.9731C>T (p.Ala3244Val)
c.9665C>T (p.Ala3222Val)
c.9728C>T (p.Ala3243Val)
c.9725C>T (p.Ala3242Val)
c.9671C>T (p.Ala3224Val)
c.9641C>T (p.Ala3214Val)
c.9596C>T (p.Ala3199Val)
c.9191C>T (p.Ala3064Val)
c.8549C>T (p.Ala2850Val)
c.6059C>T (p.Ala2020Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71812794T>ACA470282806CDH23c.9537T>A (p.Ala3179=)
c.3470T>A (n.3470T>A)
c.3134T>A (n.3134T>A)
c.9552T>A (p.Ala3184=)
c.2817T>A (p.Ala939=)
n.3073T>A
c.228T>A (p.Ala76=)
c.9732T>A (p.Ala3244=)
c.9666T>A (p.Ala3222=)
c.9729T>A (p.Ala3243=)
c.9726T>A (p.Ala3242=)
c.9672T>A (p.Ala3224=)
c.9642T>A (p.Ala3214=)
c.9597T>A (p.Ala3199=)
c.9192T>A (p.Ala3064=)
c.8550T>A (p.Ala2850=)
c.6060T>A (p.Ala2020=)
 gnomAD v4
10g.71812794T>CCA470282807CDH23c.9537T>C (p.Ala3179=)
c.3470T>C (n.3470T>C)
c.3134T>C (n.3134T>C)
c.9552T>C (p.Ala3184=)
c.2817T>C (p.Ala939=)
n.3073T>C
c.228T>C (p.Ala76=)
c.9732T>C (p.Ala3244=)
c.9666T>C (p.Ala3222=)
c.9729T>C (p.Ala3243=)
c.9726T>C (p.Ala3242=)
c.9672T>C (p.Ala3224=)
c.9642T>C (p.Ala3214=)
c.9597T>C (p.Ala3199=)
c.9192T>C (p.Ala3064=)
c.8550T>C (p.Ala2850=)
c.6060T>C (p.Ala2020=)
 ClinVar
10g.71812794T>GCA470282809CDH23c.9537T>G (p.Ala3179=)
c.3470T>G (n.3470T>G)
c.3134T>G (n.3134T>G)
c.9552T>G (p.Ala3184=)
c.2817T>G (p.Ala939=)
n.3073T>G
c.228T>G (p.Ala76=)
c.9732T>G (p.Ala3244=)
c.9666T>G (p.Ala3222=)
c.9729T>G (p.Ala3243=)
c.9726T>G (p.Ala3242=)
c.9672T>G (p.Ala3224=)
c.9642T>G (p.Ala3214=)
c.9597T>G (p.Ala3199=)
c.9192T>G (p.Ala3064=)
c.8550T>G (p.Ala2850=)
c.6060T>G (p.Ala2020=)
10g.71812795G>ACA209444549CDH23c.9538G>A (p.Val3180Ile)
c.3471G>A (n.3471G>A)
c.3135G>A (n.3135G>A)
c.9553G>A (p.Val3185Ile)
c.2818G>A (p.Val940Ile)
n.3074G>A
c.229G>A (p.Val77Ile)
c.9733G>A (p.Val3245Ile)
c.9667G>A (p.Val3223Ile)
c.9730G>A (p.Val3244Ile)
c.9727G>A (p.Val3243Ile)
c.9673G>A (p.Val3225Ile)
c.9643G>A (p.Val3215Ile)
c.9598G>A (p.Val3200Ile)
c.9193G>A (p.Val3065Ile)
c.8551G>A (p.Val2851Ile)
c.6061G>A (p.Val2021Ile)
 ClinVar dbSNP gnomAD v4
10g.71812795G>CCA377136987CDH23c.9538G>C (p.Val3180Leu)
c.3471G>C (n.3471G>C)
c.3135G>C (n.3135G>C)
c.9553G>C (p.Val3185Leu)
c.2818G>C (p.Val940Leu)
n.3074G>C
c.229G>C (p.Val77Leu)
c.9733G>C (p.Val3245Leu)
c.9667G>C (p.Val3223Leu)
c.9730G>C (p.Val3244Leu)
c.9727G>C (p.Val3243Leu)
c.9673G>C (p.Val3225Leu)
c.9643G>C (p.Val3215Leu)
c.9598G>C (p.Val3200Leu)
c.9193G>C (p.Val3065Leu)
c.8551G>C (p.Val2851Leu)
c.6061G>C (p.Val2021Leu)
10g.71812795G=CA1918892686CDH23c.9538G= (p.Val3180=)
c.3471G= (n.3471G=)
c.3135G= (n.3135G=)
c.9553G= (p.Val3185=)
c.2818G= (p.Val940=)
n.3074G=
c.229G= (p.Val77=)
c.9733G= (p.Val3245=)
c.9667G= (p.Val3223=)
c.9730G= (p.Val3244=)
c.9727G= (p.Val3243=)
c.9673G= (p.Val3225=)
c.9643G= (p.Val3215=)
c.9598G= (p.Val3200=)
c.9193G= (p.Val3065=)
c.8551G= (p.Val2851=)
c.6061G= (p.Val2021=)
10g.71812795G>TCA377136986CDH23c.9538G>T (p.Val3180Phe)
c.3471G>T (n.3471G>T)
c.3135G>T (n.3135G>T)
c.9553G>T (p.Val3185Phe)
c.2818G>T (p.Val940Phe)
n.3074G>T
c.229G>T (p.Val77Phe)
c.9733G>T (p.Val3245Phe)
c.9667G>T (p.Val3223Phe)
c.9730G>T (p.Val3244Phe)
c.9727G>T (p.Val3243Phe)
c.9673G>T (p.Val3225Phe)
c.9643G>T (p.Val3215Phe)
c.9598G>T (p.Val3200Phe)
c.9193G>T (p.Val3065Phe)
c.8551G>T (p.Val2851Phe)
c.6061G>T (p.Val2021Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71812796T>ACA377136988CDH23c.9539T>A (p.Val3180Asp)
c.3472T>A (n.3472T>A)
c.3136T>A (n.3136T>A)
c.9554T>A (p.Val3185Asp)
c.2819T>A (p.Val940Asp)
n.3075T>A
c.230T>A (p.Val77Asp)
c.9734T>A (p.Val3245Asp)
c.9668T>A (p.Val3223Asp)
c.9731T>A (p.Val3244Asp)
c.9728T>A (p.Val3243Asp)
c.9674T>A (p.Val3225Asp)
c.9644T>A (p.Val3215Asp)
c.9599T>A (p.Val3200Asp)
c.9194T>A (p.Val3065Asp)
c.8552T>A (p.Val2851Asp)
c.6062T>A (p.Val2021Asp)
10g.71812796T>CCA377136989CDH23c.9539T>C (p.Val3180Ala)
c.3472T>C (n.3472T>C)
c.3136T>C (n.3136T>C)
c.9554T>C (p.Val3185Ala)
c.2819T>C (p.Val940Ala)
n.3075T>C
c.230T>C (p.Val77Ala)
c.9734T>C (p.Val3245Ala)
c.9668T>C (p.Val3223Ala)
c.9731T>C (p.Val3244Ala)
c.9728T>C (p.Val3243Ala)
c.9674T>C (p.Val3225Ala)
c.9644T>C (p.Val3215Ala)
c.9599T>C (p.Val3200Ala)
c.9194T>C (p.Val3065Ala)
c.8552T>C (p.Val2851Ala)
c.6062T>C (p.Val2021Ala)
 dbSNP gnomAD v4
10g.71812796T>GCA377136990CDH23c.9539T>G (p.Val3180Gly)
c.3472T>G (n.3472T>G)
c.3136T>G (n.3136T>G)
c.9554T>G (p.Val3185Gly)
c.2819T>G (p.Val940Gly)
n.3075T>G
c.230T>G (p.Val77Gly)
c.9734T>G (p.Val3245Gly)
c.9668T>G (p.Val3223Gly)
c.9731T>G (p.Val3244Gly)
c.9728T>G (p.Val3243Gly)
c.9674T>G (p.Val3225Gly)
c.9644T>G (p.Val3215Gly)
c.9599T>G (p.Val3200Gly)
c.9194T>G (p.Val3065Gly)
c.8552T>G (p.Val2851Gly)
c.6062T>G (p.Val2021Gly)
10g.71812796T=CA1918892690CDH23c.9539T= (p.Val3180=)
c.3472T= (n.3472T=)
c.3136T= (n.3136T=)
c.9554T= (p.Val3185=)
c.2819T= (p.Val940=)
n.3075T=
c.230T= (p.Val77=)
c.9734T= (p.Val3245=)
c.9668T= (p.Val3223=)
c.9731T= (p.Val3244=)
c.9728T= (p.Val3243=)
c.9674T= (p.Val3225=)
c.9644T= (p.Val3215=)
c.9599T= (p.Val3200=)
c.9194T= (p.Val3065=)
c.8552T= (p.Val2851=)
c.6062T= (p.Val2021=)
10g.71812797C>ACA470282810CDH23c.9540C>A (p.Val3180=)
c.3473C>A (n.3473C>A)
c.3137C>A (n.3137C>A)
c.9555C>A (p.Val3185=)
c.2820C>A (p.Val940=)
n.3076C>A
c.231C>A (p.Val77=)
c.9735C>A (p.Val3245=)
c.9669C>A (p.Val3223=)
c.9732C>A (p.Val3244=)
c.9729C>A (p.Val3243=)
c.9675C>A (p.Val3225=)
c.9645C>A (p.Val3215=)
c.9600C>A (p.Val3200=)
c.9195C>A (p.Val3065=)
c.8553C>A (p.Val2851=)
c.6063C>A (p.Val2021=)
10g.71812797C=CA1918892693CDH23c.9540C= (p.Val3180=)
c.3473C= (n.3473C=)
c.3137C= (n.3137C=)
c.9555C= (p.Val3185=)
c.2820C= (p.Val940=)
n.3076C=
c.231C= (p.Val77=)
c.9735C= (p.Val3245=)
c.9669C= (p.Val3223=)
c.9732C= (p.Val3244=)
c.9729C= (p.Val3243=)
c.9675C= (p.Val3225=)
c.9645C= (p.Val3215=)
c.9600C= (p.Val3200=)
c.9195C= (p.Val3065=)
c.8553C= (p.Val2851=)
c.6063C= (p.Val2021=)
10g.71812797C>GCA5547123CDH23c.9540C>G (p.Val3180=)
c.3473C>G (n.3473C>G)
c.3137C>G (n.3137C>G)
c.9555C>G (p.Val3185=)
c.2820C>G (p.Val940=)
n.3076C>G
c.231C>G (p.Val77=)
c.9735C>G (p.Val3245=)
c.9669C>G (p.Val3223=)
c.9732C>G (p.Val3244=)
c.9729C>G (p.Val3243=)
c.9675C>G (p.Val3225=)
c.9645C>G (p.Val3215=)
c.9600C>G (p.Val3200=)
c.9195C>G (p.Val3065=)
c.8553C>G (p.Val2851=)
c.6063C>G (p.Val2021=)
 ClinVar dbSNP ExAC gnomAD v2
10g.71812797C>TCA470282811CDH23c.9540C>T (p.Val3180=)
c.3473C>T (n.3473C>T)
c.3137C>T (n.3137C>T)
c.9555C>T (p.Val3185=)
c.2820C>T (p.Val940=)
n.3076C>T
c.231C>T (p.Val77=)
c.9735C>T (p.Val3245=)
c.9669C>T (p.Val3223=)
c.9732C>T (p.Val3244=)
c.9729C>T (p.Val3243=)
c.9675C>T (p.Val3225=)
c.9645C>T (p.Val3215=)
c.9600C>T (p.Val3200=)
c.9195C>T (p.Val3065=)
c.8553C>T (p.Val2851=)
c.6063C>T (p.Val2021=)
10g.71812798A>CCA377136991CDH23c.9541A>C (p.Lys3181Gln)
c.3474A>C (n.3474A>C)
c.3138A>C (n.3138A>C)
c.9556A>C (p.Lys3186Gln)
c.2821A>C (p.Lys941Gln)
n.3077A>C
c.232A>C (p.Lys78Gln)
c.9736A>C (p.Lys3246Gln)
c.9670A>C (p.Lys3224Gln)
c.9733A>C (p.Lys3245Gln)
c.9730A>C (p.Lys3244Gln)
c.9676A>C (p.Lys3226Gln)
c.9646A>C (p.Lys3216Gln)
c.9601A>C (p.Lys3201Gln)
c.9196A>C (p.Lys3066Gln)
c.8554A>C (p.Lys2852Gln)
c.6064A>C (p.Lys2022Gln)
10g.71812798A>GCA377136992CDH23c.9541A>G (p.Lys3181Glu)
c.3474A>G (n.3474A>G)
c.3138A>G (n.3138A>G)
c.9556A>G (p.Lys3186Glu)
c.2821A>G (p.Lys941Glu)
n.3077A>G
c.232A>G (p.Lys78Glu)
c.9736A>G (p.Lys3246Glu)
c.9670A>G (p.Lys3224Glu)
c.9733A>G (p.Lys3245Glu)
c.9730A>G (p.Lys3244Glu)
c.9676A>G (p.Lys3226Glu)
c.9646A>G (p.Lys3216Glu)
c.9601A>G (p.Lys3201Glu)
c.9196A>G (p.Lys3066Glu)
c.8554A>G (p.Lys2852Glu)
c.6064A>G (p.Lys2022Glu)
 gnomAD v4
10g.71812798A>TCA377136993CDH23c.9541A>T (p.Lys3181Ter)
c.3474A>T (n.3474A>T)
c.3138A>T (n.3138A>T)
c.9556A>T (p.Lys3186Ter)
c.2821A>T (p.Lys941Ter)
n.3077A>T
c.232A>T (p.Lys78Ter)
c.9736A>T (p.Lys3246Ter)
c.9670A>T (p.Lys3224Ter)
c.9733A>T (p.Lys3245Ter)
c.9730A>T (p.Lys3244Ter)
c.9676A>T (p.Lys3226Ter)
c.9646A>T (p.Lys3216Ter)
c.9601A>T (p.Lys3201Ter)
c.9196A>T (p.Lys3066Ter)
c.8554A>T (p.Lys2852Ter)
c.6064A>T (p.Lys2022Ter)
10g.71812799A>CCA377136994CDH23c.9542A>C (p.Lys3181Thr)
c.3475A>C (n.3475A>C)
c.3139A>C (n.3139A>C)
c.9557A>C (p.Lys3186Thr)
c.2822A>C (p.Lys941Thr)
n.3078A>C
c.233A>C (p.Lys78Thr)
c.9737A>C (p.Lys3246Thr)
c.9671A>C (p.Lys3224Thr)
c.9734A>C (p.Lys3245Thr)
c.9731A>C (p.Lys3244Thr)
c.9677A>C (p.Lys3226Thr)
c.9647A>C (p.Lys3216Thr)
c.9602A>C (p.Lys3201Thr)
c.9197A>C (p.Lys3066Thr)
c.8555A>C (p.Lys2852Thr)
c.6065A>C (p.Lys2022Thr)
10g.71812799A>GCA377136995CDH23c.9542A>G (p.Lys3181Arg)
c.3475A>G (n.3475A>G)
c.3139A>G (n.3139A>G)
c.9557A>G (p.Lys3186Arg)
c.2822A>G (p.Lys941Arg)
n.3078A>G
c.233A>G (p.Lys78Arg)
c.9737A>G (p.Lys3246Arg)
c.9671A>G (p.Lys3224Arg)
c.9734A>G (p.Lys3245Arg)
c.9731A>G (p.Lys3244Arg)
c.9677A>G (p.Lys3226Arg)
c.9647A>G (p.Lys3216Arg)
c.9602A>G (p.Lys3201Arg)
c.9197A>G (p.Lys3066Arg)
c.8555A>G (p.Lys2852Arg)
c.6065A>G (p.Lys2022Arg)
 gnomAD v4
10g.71812799A>TCA377136996CDH23c.9542A>T (p.Lys3181Met)
c.3475A>T (n.3475A>T)
c.3139A>T (n.3139A>T)
c.9557A>T (p.Lys3186Met)
c.2822A>T (p.Lys941Met)
n.3078A>T
c.233A>T (p.Lys78Met)
c.9737A>T (p.Lys3246Met)
c.9671A>T (p.Lys3224Met)
c.9734A>T (p.Lys3245Met)
c.9731A>T (p.Lys3244Met)
c.9677A>T (p.Lys3226Met)
c.9647A>T (p.Lys3216Met)
c.9602A>T (p.Lys3201Met)
c.9197A>T (p.Lys3066Met)
c.8555A>T (p.Lys2852Met)
c.6065A>T (p.Lys2022Met)
10g.71812800G>ACA209444559CDH23c.9543G>A (p.Lys3181=)
c.3476G>A (n.3476G>A)
c.3140G>A (n.3140G>A)
c.9558G>A (p.Lys3186=)
c.2823G>A (p.Lys941=)
n.3079G>A
c.234G>A (p.Lys78=)
c.9738G>A (p.Lys3246=)
c.9672G>A (p.Lys3224=)
c.9735G>A (p.Lys3245=)
c.9732G>A (p.Lys3244=)
c.9678G>A (p.Lys3226=)
c.9648G>A (p.Lys3216=)
c.9603G>A (p.Lys3201=)
c.9198G>A (p.Lys3066=)
c.8556G>A (p.Lys2852=)
c.6066G>A (p.Lys2022=)
 dbSNP gnomAD v2 gnomAD v4
10g.71812800G>CCA377136997CDH23c.9543G>C (p.Lys3181Asn)
c.3476G>C (n.3476G>C)
c.3140G>C (n.3140G>C)
c.9558G>C (p.Lys3186Asn)
c.2823G>C (p.Lys941Asn)
n.3079G>C
c.234G>C (p.Lys78Asn)
c.9738G>C (p.Lys3246Asn)
c.9672G>C (p.Lys3224Asn)
c.9735G>C (p.Lys3245Asn)
c.9732G>C (p.Lys3244Asn)
c.9678G>C (p.Lys3226Asn)
c.9648G>C (p.Lys3216Asn)
c.9603G>C (p.Lys3201Asn)
c.9198G>C (p.Lys3066Asn)
c.8556G>C (p.Lys2852Asn)
c.6066G>C (p.Lys2022Asn)
10g.71812800G=CA1918892695CDH23c.9543G= (p.Lys3181=)
c.3476G= (n.3476G=)
c.3140G= (n.3140G=)
c.9558G= (p.Lys3186=)
c.2823G= (p.Lys941=)
n.3079G=
c.234G= (p.Lys78=)
c.9738G= (p.Lys3246=)
c.9672G= (p.Lys3224=)
c.9735G= (p.Lys3245=)
c.9732G= (p.Lys3244=)
c.9678G= (p.Lys3226=)
c.9648G= (p.Lys3216=)
c.9603G= (p.Lys3201=)
c.9198G= (p.Lys3066=)
c.8556G= (p.Lys2852=)
c.6066G= (p.Lys2022=)
10g.71812800G>TCA377136998CDH23c.9543G>T (p.Lys3181Asn)
c.3476G>T (n.3476G>T)
c.3140G>T (n.3140G>T)
c.9558G>T (p.Lys3186Asn)
c.2823G>T (p.Lys941Asn)
n.3079G>T
c.234G>T (p.Lys78Asn)
c.9738G>T (p.Lys3246Asn)
c.9672G>T (p.Lys3224Asn)
c.9735G>T (p.Lys3245Asn)
c.9732G>T (p.Lys3244Asn)
c.9678G>T (p.Lys3226Asn)
c.9648G>T (p.Lys3216Asn)
c.9603G>T (p.Lys3201Asn)
c.9198G>T (p.Lys3066Asn)
c.8556G>T (p.Lys2852Asn)
c.6066G>T (p.Lys2022Asn)
10g.71812801C>ACA377137001CDH23c.9544C>A (p.Pro3182Thr)
c.3477C>A (n.3477C>A)
c.3141C>A (n.3141C>A)
c.9559C>A (p.Pro3187Thr)
c.2824C>A (p.Pro942Thr)
n.3080C>A
c.235C>A (p.Pro79Thr)
c.9739C>A (p.Pro3247Thr)
c.9673C>A (p.Pro3225Thr)
c.9736C>A (p.Pro3246Thr)
c.9733C>A (p.Pro3245Thr)
c.9679C>A (p.Pro3227Thr)
c.9649C>A (p.Pro3217Thr)
c.9604C>A (p.Pro3202Thr)
c.9199C>A (p.Pro3067Thr)
c.8557C>A (p.Pro2853Thr)
c.6067C>A (p.Pro2023Thr)
 gnomAD v4
10g.71812801C>GCA377136999CDH23c.9544C>G (p.Pro3182Ala)
c.3477C>G (n.3477C>G)
c.3141C>G (n.3141C>G)
c.9559C>G (p.Pro3187Ala)
c.2824C>G (p.Pro942Ala)
n.3080C>G
c.235C>G (p.Pro79Ala)
c.9739C>G (p.Pro3247Ala)
c.9673C>G (p.Pro3225Ala)
c.9736C>G (p.Pro3246Ala)
c.9733C>G (p.Pro3245Ala)
c.9679C>G (p.Pro3227Ala)
c.9649C>G (p.Pro3217Ala)
c.9604C>G (p.Pro3202Ala)
c.9199C>G (p.Pro3067Ala)
c.8557C>G (p.Pro2853Ala)
c.6067C>G (p.Pro2023Ala)
10g.71812801C>TCA377137000CDH23c.9544C>T (p.Pro3182Ser)
c.3477C>T (n.3477C>T)
c.3141C>T (n.3141C>T)
c.9559C>T (p.Pro3187Ser)
c.2824C>T (p.Pro942Ser)
n.3080C>T
c.235C>T (p.Pro79Ser)
c.9739C>T (p.Pro3247Ser)
c.9673C>T (p.Pro3225Ser)
c.9736C>T (p.Pro3246Ser)
c.9733C>T (p.Pro3245Ser)
c.9679C>T (p.Pro3227Ser)
c.9649C>T (p.Pro3217Ser)
c.9604C>T (p.Pro3202Ser)
c.9199C>T (p.Pro3067Ser)
c.8557C>T (p.Pro2853Ser)
c.6067C>T (p.Pro2023Ser)
10g.71812805_71812821delCA2609585337CDH23c.9548_9564del (p.Asp3183AlafsTer8)
c.3481_3497del (n.3481_3497del)
c.3145_3161del (n.3145_3161del)
c.9563_9579del (p.Asp3188AlafsTer8)
c.2828_2844del (p.Asp943AlafsTer8)
n.3084_3100del
c.239_255del (p.Asp80AlafsTer8)
c.9743_9759del (p.Asp3248AlafsTer8)
c.9677_9693del (p.Asp3226AlafsTer8)
c.9740_9756del (p.Asp3247AlafsTer8)
c.9737_9753del (p.Asp3246AlafsTer8)
c.9683_9699del (p.Asp3228AlafsTer8)
c.9653_9669del (p.Asp3218AlafsTer8)
c.9608_9624del (p.Asp3203AlafsTer8)
c.9203_9219del (p.Asp3068AlafsTer8)
c.8561_8577del (p.Asp2854AlafsTer8)
c.6071_6087del (p.Asp2024AlafsTer8)
 gnomAD v4
10g.71812802C>ACA377137002CDH23c.9545C>A (p.Pro3182His)
c.3478C>A (n.3478C>A)
c.3142C>A (n.3142C>A)
c.9560C>A (p.Pro3187His)
c.2825C>A (p.Pro942His)
n.3081C>A
c.236C>A (p.Pro79His)
c.9740C>A (p.Pro3247His)
c.9674C>A (p.Pro3225His)
c.9737C>A (p.Pro3246His)
c.9734C>A (p.Pro3245His)
c.9680C>A (p.Pro3227His)
c.9650C>A (p.Pro3217His)
c.9605C>A (p.Pro3202His)
c.9200C>A (p.Pro3067His)
c.8558C>A (p.Pro2853His)
c.6068C>A (p.Pro2023His)
 gnomAD v4
10g.71812802C>GCA377137003CDH23c.9545C>G (p.Pro3182Arg)
c.3478C>G (n.3478C>G)
c.3142C>G (n.3142C>G)
c.9560C>G (p.Pro3187Arg)
c.2825C>G (p.Pro942Arg)
n.3081C>G
c.236C>G (p.Pro79Arg)
c.9740C>G (p.Pro3247Arg)
c.9674C>G (p.Pro3225Arg)
c.9737C>G (p.Pro3246Arg)
c.9734C>G (p.Pro3245Arg)
c.9680C>G (p.Pro3227Arg)
c.9650C>G (p.Pro3217Arg)
c.9605C>G (p.Pro3202Arg)
c.9200C>G (p.Pro3067Arg)
c.8558C>G (p.Pro2853Arg)
c.6068C>G (p.Pro2023Arg)
10g.71812802C>TCA377137004CDH23c.9545C>T (p.Pro3182Leu)
c.3478C>T (n.3478C>T)
c.3142C>T (n.3142C>T)
c.9560C>T (p.Pro3187Leu)
c.2825C>T (p.Pro942Leu)
n.3081C>T
c.236C>T (p.Pro79Leu)
c.9740C>T (p.Pro3247Leu)
c.9674C>T (p.Pro3225Leu)
c.9737C>T (p.Pro3246Leu)
c.9734C>T (p.Pro3245Leu)
c.9680C>T (p.Pro3227Leu)
c.9650C>T (p.Pro3217Leu)
c.9605C>T (p.Pro3202Leu)
c.9200C>T (p.Pro3067Leu)
c.8558C>T (p.Pro2853Leu)
c.6068C>T (p.Pro2023Leu)
10g.71812802_71812805delinsCTGACA1918892699CDH23c.9545_9548delinsCTGA (p.Pro3182=)
c.3478_3481delinsCTGA (n.3478_3481delinsCTGA)
c.3142_3145delinsCTGA (n.3142_3145delinsCTGA)
c.9560_9563delinsCTGA (p.Pro3187=)
c.2825_2828delinsCTGA (p.Pro942=)
n.3081_3084delinsCTGA
c.236_239delinsCTGA (p.Pro79=)
c.9740_9743delinsCTGA (p.Pro3247=)
c.9674_9677delinsCTGA (p.Pro3225=)
c.9737_9740delinsCTGA (p.Pro3246=)
c.9734_9737delinsCTGA (p.Pro3245=)
c.9680_9683delinsCTGA (p.Pro3227=)
c.9650_9653delinsCTGA (p.Pro3217=)
c.9605_9608delinsCTGA (p.Pro3202=)
c.9200_9203delinsCTGA (p.Pro3067=)
c.8558_8561delinsCTGA (p.Pro2853=)
c.6068_6071delinsCTGA (p.Pro2023=)
10g.71812803T>ACA470282821CDH23c.9546T>A (p.Pro3182=)
c.3479T>A (n.3479T>A)
c.3143T>A (n.3143T>A)
c.9561T>A (p.Pro3187=)
c.2826T>A (p.Pro942=)
n.3082T>A
c.237T>A (p.Pro79=)
c.9741T>A (p.Pro3247=)
c.9675T>A (p.Pro3225=)
c.9738T>A (p.Pro3246=)
c.9735T>A (p.Pro3245=)
c.9681T>A (p.Pro3227=)
c.9651T>A (p.Pro3217=)
c.9606T>A (p.Pro3202=)
c.9201T>A (p.Pro3067=)
c.8559T>A (p.Pro2853=)
c.6069T>A (p.Pro2023=)
10g.71812803T>CCA470282823CDH23c.9546T>C (p.Pro3182=)
c.3479T>C (n.3479T>C)
c.3143T>C (n.3143T>C)
c.9561T>C (p.Pro3187=)
c.2826T>C (p.Pro942=)
n.3082T>C
c.237T>C (p.Pro79=)
c.9741T>C (p.Pro3247=)
c.9675T>C (p.Pro3225=)
c.9738T>C (p.Pro3246=)
c.9735T>C (p.Pro3245=)
c.9681T>C (p.Pro3227=)
c.9651T>C (p.Pro3217=)
c.9606T>C (p.Pro3202=)
c.9201T>C (p.Pro3067=)
c.8559T>C (p.Pro2853=)
c.6069T>C (p.Pro2023=)
 ClinVar
10g.71812803T>GCA470282824CDH23c.9546T>G (p.Pro3182=)
c.3479T>G (n.3479T>G)
c.3143T>G (n.3143T>G)
c.9561T>G (p.Pro3187=)
c.2826T>G (p.Pro942=)
n.3082T>G
c.237T>G (p.Pro79=)
c.9741T>G (p.Pro3247=)
c.9675T>G (p.Pro3225=)
c.9738T>G (p.Pro3246=)
c.9735T>G (p.Pro3245=)
c.9681T>G (p.Pro3227=)
c.9651T>G (p.Pro3217=)
c.9606T>G (p.Pro3202=)
c.9201T>G (p.Pro3067=)
c.8559T>G (p.Pro2853=)
c.6069T>G (p.Pro2023=)
10g.71812809_71812811delCA668125627CDH23c.9552_9554del (p.Asp3185del)
c.3485_3487del (n.3485_3487del)
c.3149_3151del (n.3149_3151del)
c.9567_9569del (p.Asp3190del)
c.2832_2834del (p.Asp945del)
n.3088_3090del
c.243_245del (p.Asp82del)
c.9747_9749del (p.Asp3250del)
c.9681_9683del (p.Asp3228del)
c.9744_9746del (p.Asp3249del)
c.9741_9743del (p.Asp3248del)
c.9687_9689del (p.Asp3230del)
c.9657_9659del (p.Asp3220del)
c.9612_9614del (p.Asp3205del)
c.9207_9209del (p.Asp3070del)
c.8565_8567del (p.Asp2856del)
c.6075_6077del (p.Asp2026del)
 dbSNP gnomAD v4
10g.71812804G>ACA377137005CDH23c.9547G>A (p.Asp3183Asn)
c.3480G>A (n.3480G>A)
c.3144G>A (n.3144G>A)
c.9562G>A (p.Asp3188Asn)
c.2827G>A (p.Asp943Asn)
n.3083G>A
c.238G>A (p.Asp80Asn)
c.9742G>A (p.Asp3248Asn)
c.9676G>A (p.Asp3226Asn)
c.9739G>A (p.Asp3247Asn)
c.9736G>A (p.Asp3246Asn)
c.9682G>A (p.Asp3228Asn)
c.9652G>A (p.Asp3218Asn)
c.9607G>A (p.Asp3203Asn)
c.9202G>A (p.Asp3068Asn)
c.8560G>A (p.Asp2854Asn)
c.6070G>A (p.Asp2024Asn)
 dbSNP gnomAD v4
10g.71812804G>CCA5547124CDH23c.9547G>C (p.Asp3183His)
c.3480G>C (n.3480G>C)
c.3144G>C (n.3144G>C)
c.9562G>C (p.Asp3188His)
c.2827G>C (p.Asp943His)
n.3083G>C
c.238G>C (p.Asp80His)
c.9742G>C (p.Asp3248His)
c.9676G>C (p.Asp3226His)
c.9739G>C (p.Asp3247His)
c.9736G>C (p.Asp3246His)
c.9682G>C (p.Asp3228His)
c.9652G>C (p.Asp3218His)
c.9607G>C (p.Asp3203His)
c.9202G>C (p.Asp3068His)
c.8560G>C (p.Asp2854His)
c.6070G>C (p.Asp2024His)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71812804G=CA1918892705CDH23c.9547G= (p.Asp3183=)
c.3480G= (n.3480G=)
c.3144G= (n.3144G=)
c.9562G= (p.Asp3188=)
c.2827G= (p.Asp943=)
n.3083G=
c.238G= (p.Asp80=)
c.9742G= (p.Asp3248=)
c.9676G= (p.Asp3226=)
c.9739G= (p.Asp3247=)
c.9736G= (p.Asp3246=)
c.9682G= (p.Asp3228=)
c.9652G= (p.Asp3218=)
c.9607G= (p.Asp3203=)
c.9202G= (p.Asp3068=)
c.8560G= (p.Asp2854=)
c.6070G= (p.Asp2024=)
10g.71812804G>TCA377137006CDH23c.9547G>T (p.Asp3183Tyr)
c.3480G>T (n.3480G>T)
c.3144G>T (n.3144G>T)
c.9562G>T (p.Asp3188Tyr)
c.2827G>T (p.Asp943Tyr)
n.3083G>T
c.238G>T (p.Asp80Tyr)
c.9742G>T (p.Asp3248Tyr)
c.9676G>T (p.Asp3226Tyr)
c.9739G>T (p.Asp3247Tyr)
c.9736G>T (p.Asp3246Tyr)
c.9682G>T (p.Asp3228Tyr)
c.9652G>T (p.Asp3218Tyr)
c.9607G>T (p.Asp3203Tyr)
c.9202G>T (p.Asp3068Tyr)
c.8560G>T (p.Asp2854Tyr)
c.6070G>T (p.Asp2024Tyr)
10g.71812805A=CA1918892708CDH23c.9548A= (p.Asp3183=)
c.3481A= (n.3481A=)
c.3145A= (n.3145A=)
c.9563A= (p.Asp3188=)
c.2828A= (p.Asp943=)
n.3084A=
c.239A= (p.Asp80=)
c.9743A= (p.Asp3248=)
c.9677A= (p.Asp3226=)
c.9740A= (p.Asp3247=)
c.9737A= (p.Asp3246=)
c.9683A= (p.Asp3228=)
c.9653A= (p.Asp3218=)
c.9608A= (p.Asp3203=)
c.9203A= (p.Asp3068=)
c.8561A= (p.Asp2854=)
c.6071A= (p.Asp2024=)
10g.71812805A>CCA5547125CDH23c.9548A>C (p.Asp3183Ala)
c.3481A>C (n.3481A>C)
c.3145A>C (n.3145A>C)
c.9563A>C (p.Asp3188Ala)
c.2828A>C (p.Asp943Ala)
n.3084A>C
c.239A>C (p.Asp80Ala)
c.9743A>C (p.Asp3248Ala)
c.9677A>C (p.Asp3226Ala)
c.9740A>C (p.Asp3247Ala)
c.9737A>C (p.Asp3246Ala)
c.9683A>C (p.Asp3228Ala)
c.9653A>C (p.Asp3218Ala)
c.9608A>C (p.Asp3203Ala)
c.9203A>C (p.Asp3068Ala)
c.8561A>C (p.Asp2854Ala)
c.6071A>C (p.Asp2024Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71812805A>GCA377137007CDH23c.9548A>G (p.Asp3183Gly)
c.3481A>G (n.3481A>G)
c.3145A>G (n.3145A>G)
c.9563A>G (p.Asp3188Gly)
c.2828A>G (p.Asp943Gly)
n.3084A>G
c.239A>G (p.Asp80Gly)
c.9743A>G (p.Asp3248Gly)
c.9677A>G (p.Asp3226Gly)
c.9740A>G (p.Asp3247Gly)
c.9737A>G (p.Asp3246Gly)
c.9683A>G (p.Asp3228Gly)
c.9653A>G (p.Asp3218Gly)
c.9608A>G (p.Asp3203Gly)
c.9203A>G (p.Asp3068Gly)
c.8561A>G (p.Asp2854Gly)
c.6071A>G (p.Asp2024Gly)
 dbSNP gnomAD v2 gnomAD v4
10g.71812805A>TCA377137008CDH23c.9548A>T (p.Asp3183Val)
c.3481A>T (n.3481A>T)
c.3145A>T (n.3145A>T)
c.9563A>T (p.Asp3188Val)
c.2828A>T (p.Asp943Val)
n.3084A>T
c.239A>T (p.Asp80Val)
c.9743A>T (p.Asp3248Val)
c.9677A>T (p.Asp3226Val)
c.9740A>T (p.Asp3247Val)
c.9737A>T (p.Asp3246Val)
c.9683A>T (p.Asp3228Val)
c.9653A>T (p.Asp3218Val)
c.9608A>T (p.Asp3203Val)
c.9203A>T (p.Asp3068Val)
c.8561A>T (p.Asp2854Val)
c.6071A>T (p.Asp2024Val)
10g.71812806T>ACA377137009CDH23c.9549T>A (p.Asp3183Glu)
c.3482T>A (n.3482T>A)
c.3146T>A (n.3146T>A)
c.9564T>A (p.Asp3188Glu)
c.2829T>A (p.Asp943Glu)
n.3085T>A
c.240T>A (p.Asp80Glu)
c.9744T>A (p.Asp3248Glu)
c.9678T>A (p.Asp3226Glu)
c.9741T>A (p.Asp3247Glu)
c.9738T>A (p.Asp3246Glu)
c.9684T>A (p.Asp3228Glu)
c.9654T>A (p.Asp3218Glu)
c.9609T>A (p.Asp3203Glu)
c.9204T>A (p.Asp3068Glu)
c.8562T>A (p.Asp2854Glu)
c.6072T>A (p.Asp2024Glu)
10g.71812806T>CCA470282825CDH23c.9549T>C (p.Asp3183=)
c.3482T>C (n.3482T>C)
c.3146T>C (n.3146T>C)
c.9564T>C (p.Asp3188=)
c.2829T>C (p.Asp943=)
n.3085T>C
c.240T>C (p.Asp80=)
c.9744T>C (p.Asp3248=)
c.9678T>C (p.Asp3226=)
c.9741T>C (p.Asp3247=)
c.9738T>C (p.Asp3246=)
c.9684T>C (p.Asp3228=)
c.9654T>C (p.Asp3218=)
c.9609T>C (p.Asp3203=)
c.9204T>C (p.Asp3068=)
c.8562T>C (p.Asp2854=)
c.6072T>C (p.Asp2024=)
10g.71812806T>GCA377137010CDH23c.9549T>G (p.Asp3183Glu)
c.3482T>G (n.3482T>G)
c.3146T>G (n.3146T>G)
c.9564T>G (p.Asp3188Glu)
c.2829T>G (p.Asp943Glu)
n.3085T>G
c.240T>G (p.Asp80Glu)
c.9744T>G (p.Asp3248Glu)
c.9678T>G (p.Asp3226Glu)
c.9741T>G (p.Asp3247Glu)
c.9738T>G (p.Asp3246Glu)
c.9684T>G (p.Asp3228Glu)
c.9654T>G (p.Asp3218Glu)
c.9609T>G (p.Asp3203Glu)
c.9204T>G (p.Asp3068Glu)
c.8562T>G (p.Asp2854Glu)
c.6072T>G (p.Asp2024Glu)
10g.71812807G>ACA377137013CDH23c.9550G>A (p.Asp3184Asn)
c.3483G>A (n.3483G>A)
c.3147G>A (n.3147G>A)
c.9565G>A (p.Asp3189Asn)
c.2830G>A (p.Asp944Asn)
n.3086G>A
c.241G>A (p.Asp81Asn)
c.9745G>A (p.Asp3249Asn)
c.9679G>A (p.Asp3227Asn)
c.9742G>A (p.Asp3248Asn)
c.9739G>A (p.Asp3247Asn)
c.9685G>A (p.Asp3229Asn)
c.9655G>A (p.Asp3219Asn)
c.9610G>A (p.Asp3204Asn)
c.9205G>A (p.Asp3069Asn)
c.8563G>A (p.Asp2855Asn)
c.6073G>A (p.Asp2025Asn)
 dbSNP
10g.71812807G>CCA377137011CDH23c.9550G>C (p.Asp3184His)
c.3483G>C (n.3483G>C)
c.3147G>C (n.3147G>C)
c.9565G>C (p.Asp3189His)
c.2830G>C (p.Asp944His)
n.3086G>C
c.241G>C (p.Asp81His)
c.9745G>C (p.Asp3249His)
c.9679G>C (p.Asp3227His)
c.9742G>C (p.Asp3248His)
c.9739G>C (p.Asp3247His)
c.9685G>C (p.Asp3229His)
c.9655G>C (p.Asp3219His)
c.9610G>C (p.Asp3204His)
c.9205G>C (p.Asp3069His)
c.8563G>C (p.Asp2855His)
c.6073G>C (p.Asp2025His)
10g.71812807G=CA1918892711CDH23c.9550G= (p.Asp3184=)
c.3483G= (n.3483G=)
c.3147G= (n.3147G=)
c.9565G= (p.Asp3189=)
c.2830G= (p.Asp944=)
n.3086G=
c.241G= (p.Asp81=)
c.9745G= (p.Asp3249=)
c.9679G= (p.Asp3227=)
c.9742G= (p.Asp3248=)
c.9739G= (p.Asp3247=)
c.9685G= (p.Asp3229=)
c.9655G= (p.Asp3219=)
c.9610G= (p.Asp3204=)
c.9205G= (p.Asp3069=)
c.8563G= (p.Asp2855=)
c.6073G= (p.Asp2025=)
10g.71812807G>TCA377137012CDH23c.9550G>T (p.Asp3184Tyr)
c.3483G>T (n.3483G>T)
c.3147G>T (n.3147G>T)
c.9565G>T (p.Asp3189Tyr)
c.2830G>T (p.Asp944Tyr)
n.3086G>T
c.241G>T (p.Asp81Tyr)
c.9745G>T (p.Asp3249Tyr)
c.9679G>T (p.Asp3227Tyr)
c.9742G>T (p.Asp3248Tyr)
c.9739G>T (p.Asp3247Tyr)
c.9685G>T (p.Asp3229Tyr)
c.9655G>T (p.Asp3219Tyr)
c.9610G>T (p.Asp3204Tyr)
c.9205G>T (p.Asp3069Tyr)
c.8563G>T (p.Asp2855Tyr)
c.6073G>T (p.Asp2025Tyr)
10g.71812808A>CCA377137014CDH23c.9551A>C (p.Asp3184Ala)
c.3484A>C (n.3484A>C)
c.3148A>C (n.3148A>C)
c.9566A>C (p.Asp3189Ala)
c.2831A>C (p.Asp944Ala)
n.3087A>C
c.242A>C (p.Asp81Ala)
c.9746A>C (p.Asp3249Ala)
c.9680A>C (p.Asp3227Ala)
c.9743A>C (p.Asp3248Ala)
c.9740A>C (p.Asp3247Ala)
c.9686A>C (p.Asp3229Ala)
c.9656A>C (p.Asp3219Ala)
c.9611A>C (p.Asp3204Ala)
c.9206A>C (p.Asp3069Ala)
c.8564A>C (p.Asp2855Ala)
c.6074A>C (p.Asp2025Ala)
10g.71812808A>GCA377137016CDH23c.9551A>G (p.Asp3184Gly)
c.3484A>G (n.3484A>G)
c.3148A>G (n.3148A>G)
c.9566A>G (p.Asp3189Gly)
c.2831A>G (p.Asp944Gly)
n.3087A>G
c.242A>G (p.Asp81Gly)
c.9746A>G (p.Asp3249Gly)
c.9680A>G (p.Asp3227Gly)
c.9743A>G (p.Asp3248Gly)
c.9740A>G (p.Asp3247Gly)
c.9686A>G (p.Asp3229Gly)
c.9656A>G (p.Asp3219Gly)
c.9611A>G (p.Asp3204Gly)
c.9206A>G (p.Asp3069Gly)
c.8564A>G (p.Asp2855Gly)
c.6074A>G (p.Asp2025Gly)
10g.71812808A>TCA377137015CDH23c.9551A>T (p.Asp3184Val)
c.3484A>T (n.3484A>T)
c.3148A>T (n.3148A>T)
c.9566A>T (p.Asp3189Val)
c.2831A>T (p.Asp944Val)
n.3087A>T
c.242A>T (p.Asp81Val)
c.9746A>T (p.Asp3249Val)
c.9680A>T (p.Asp3227Val)
c.9743A>T (p.Asp3248Val)
c.9740A>T (p.Asp3247Val)
c.9686A>T (p.Asp3229Val)
c.9656A>T (p.Asp3219Val)
c.9611A>T (p.Asp3204Val)
c.9206A>T (p.Asp3069Val)
c.8564A>T (p.Asp2855Val)
c.6074A>T (p.Asp2025Val)
10g.71812809T>ACA377137017CDH23c.9552T>A (p.Asp3184Glu)
c.3485T>A (n.3485T>A)
c.3149T>A (n.3149T>A)
c.9567T>A (p.Asp3189Glu)
c.2832T>A (p.Asp944Glu)
n.3088T>A
c.243T>A (p.Asp81Glu)
c.9747T>A (p.Asp3249Glu)
c.9681T>A (p.Asp3227Glu)
c.9744T>A (p.Asp3248Glu)
c.9741T>A (p.Asp3247Glu)
c.9687T>A (p.Asp3229Glu)
c.9657T>A (p.Asp3219Glu)
c.9612T>A (p.Asp3204Glu)
c.9207T>A (p.Asp3069Glu)
c.8565T>A (p.Asp2855Glu)
c.6075T>A (p.Asp2025Glu)
10g.71812809T>CCA470282832CDH23c.9552T>C (p.Asp3184=)
c.3485T>C (n.3485T>C)
c.3149T>C (n.3149T>C)
c.9567T>C (p.Asp3189=)
c.2832T>C (p.Asp944=)
n.3088T>C
c.243T>C (p.Asp81=)
c.9747T>C (p.Asp3249=)
c.9681T>C (p.Asp3227=)
c.9744T>C (p.Asp3248=)
c.9741T>C (p.Asp3247=)
c.9687T>C (p.Asp3229=)
c.9657T>C (p.Asp3219=)
c.9612T>C (p.Asp3204=)
c.9207T>C (p.Asp3069=)
c.8565T>C (p.Asp2855=)
c.6075T>C (p.Asp2025=)
 dbSNP gnomAD v2 gnomAD v4
10g.71812809T>GCA377137018CDH23c.9552T>G (p.Asp3184Glu)
c.3485T>G (n.3485T>G)
c.3149T>G (n.3149T>G)
c.9567T>G (p.Asp3189Glu)
c.2832T>G (p.Asp944Glu)
n.3088T>G
c.243T>G (p.Asp81Glu)
c.9747T>G (p.Asp3249Glu)
c.9681T>G (p.Asp3227Glu)
c.9744T>G (p.Asp3248Glu)
c.9741T>G (p.Asp3247Glu)
c.9687T>G (p.Asp3229Glu)
c.9657T>G (p.Asp3219Glu)
c.9612T>G (p.Asp3204Glu)
c.9207T>G (p.Asp3069Glu)
c.8565T>G (p.Asp2855Glu)
c.6075T>G (p.Asp2025Glu)
10g.71812809T=CA1918892713CDH23c.9552T= (p.Asp3184=)
c.3485T= (n.3485T=)
c.3149T= (n.3149T=)
c.9567T= (p.Asp3189=)
c.2832T= (p.Asp944=)
n.3088T=
c.243T= (p.Asp81=)
c.9747T= (p.Asp3249=)
c.9681T= (p.Asp3227=)
c.9744T= (p.Asp3248=)
c.9741T= (p.Asp3247=)
c.9687T= (p.Asp3229=)
c.9657T= (p.Asp3219=)
c.9612T= (p.Asp3204=)
c.9207T= (p.Asp3069=)
c.8565T= (p.Asp2855=)
c.6075T= (p.Asp2025=)
10g.71812810G>ACA377137019CDH23c.9553G>A (p.Asp3185Asn)
c.3486G>A (n.3486G>A)
c.3150G>A (n.3150G>A)
c.9568G>A (p.Asp3190Asn)
c.2833G>A (p.Asp945Asn)
n.3089G>A
c.244G>A (p.Asp82Asn)
c.9748G>A (p.Asp3250Asn)
c.9682G>A (p.Asp3228Asn)
c.9745G>A (p.Asp3249Asn)
c.9742G>A (p.Asp3248Asn)
c.9688G>A (p.Asp3230Asn)
c.9658G>A (p.Asp3220Asn)
c.9613G>A (p.Asp3205Asn)
c.9208G>A (p.Asp3070Asn)
c.8566G>A (p.Asp2856Asn)
c.6076G>A (p.Asp2026Asn)
 ClinVar dbSNP gnomAD v4
10g.71812810G>CCA377137020CDH23c.9553G>C (p.Asp3185His)
c.3486G>C (n.3486G>C)
c.3150G>C (n.3150G>C)
c.9568G>C (p.Asp3190His)
c.2833G>C (p.Asp945His)
n.3089G>C
c.244G>C (p.Asp82His)
c.9748G>C (p.Asp3250His)
c.9682G>C (p.Asp3228His)
c.9745G>C (p.Asp3249His)
c.9742G>C (p.Asp3248His)
c.9688G>C (p.Asp3230His)
c.9658G>C (p.Asp3220His)
c.9613G>C (p.Asp3205His)
c.9208G>C (p.Asp3070His)
c.8566G>C (p.Asp2856His)
c.6076G>C (p.Asp2026His)
10g.71812810G>TCA377137021CDH23c.9553G>T (p.Asp3185Tyr)
c.3486G>T (n.3486G>T)
c.3150G>T (n.3150G>T)
c.9568G>T (p.Asp3190Tyr)
c.2833G>T (p.Asp945Tyr)
n.3089G>T
c.244G>T (p.Asp82Tyr)
c.9748G>T (p.Asp3250Tyr)
c.9682G>T (p.Asp3228Tyr)
c.9745G>T (p.Asp3249Tyr)
c.9742G>T (p.Asp3248Tyr)
c.9688G>T (p.Asp3230Tyr)
c.9658G>T (p.Asp3220Tyr)
c.9613G>T (p.Asp3205Tyr)
c.9208G>T (p.Asp3070Tyr)
c.8566G>T (p.Asp2856Tyr)
c.6076G>T (p.Asp2026Tyr)
10g.71812810_71812816delinsGACCGATCA1918892717CDH23c.9553_9559delinsGACCGAT (p.Asp3185=)
c.3486_3492delinsGACCGAT (n.3486_3492delinsGACCGAT)
c.3150_3156delinsGACCGAT (n.3150_3156delinsGACCGAT)
c.9568_9574delinsGACCGAT (p.Asp3190=)
c.2833_2839delinsGACCGAT (p.Asp945=)
n.3089_3095delinsGACCGAT
c.244_250delinsGACCGAT (p.Asp82=)
c.9748_9754delinsGACCGAT (p.Asp3250=)
c.9682_9688delinsGACCGAT (p.Asp3228=)
c.9745_9751delinsGACCGAT (p.Asp3249=)
c.9742_9748delinsGACCGAT (p.Asp3248=)
c.9688_9694delinsGACCGAT (p.Asp3230=)
c.9658_9664delinsGACCGAT (p.Asp3220=)
c.9613_9619delinsGACCGAT (p.Asp3205=)
c.9208_9214delinsGACCGAT (p.Asp3070=)
c.8566_8572delinsGACCGAT (p.Asp2856=)
c.6076_6082delinsGACCGAT (p.Asp2026=)
10g.71812811A>CCA377137022CDH23c.9554A>C (p.Asp3185Ala)
c.3487A>C (n.3487A>C)
c.3151A>C (n.3151A>C)
c.9569A>C (p.Asp3190Ala)
c.2834A>C (p.Asp945Ala)
n.3090A>C
c.245A>C (p.Asp82Ala)
c.9749A>C (p.Asp3250Ala)
c.9683A>C (p.Asp3228Ala)
c.9746A>C (p.Asp3249Ala)
c.9743A>C (p.Asp3248Ala)
c.9689A>C (p.Asp3230Ala)
c.9659A>C (p.Asp3220Ala)
c.9614A>C (p.Asp3205Ala)
c.9209A>C (p.Asp3070Ala)
c.8567A>C (p.Asp2856Ala)
c.6077A>C (p.Asp2026Ala)
10g.71812811A>GCA377137023CDH23c.9554A>G (p.Asp3185Gly)
c.3487A>G (n.3487A>G)
c.3151A>G (n.3151A>G)
c.9569A>G (p.Asp3190Gly)
c.2834A>G (p.Asp945Gly)
n.3090A>G
c.245A>G (p.Asp82Gly)
c.9749A>G (p.Asp3250Gly)
c.9683A>G (p.Asp3228Gly)
c.9746A>G (p.Asp3249Gly)
c.9743A>G (p.Asp3248Gly)
c.9689A>G (p.Asp3230Gly)
c.9659A>G (p.Asp3220Gly)
c.9614A>G (p.Asp3205Gly)
c.9209A>G (p.Asp3070Gly)
c.8567A>G (p.Asp2856Gly)
c.6077A>G (p.Asp2026Gly)
10g.71812811A>TCA377137024CDH23c.9554A>T (p.Asp3185Val)
c.3487A>T (n.3487A>T)
c.3151A>T (n.3151A>T)
c.9569A>T (p.Asp3190Val)
c.2834A>T (p.Asp945Val)
n.3090A>T
c.245A>T (p.Asp82Val)
c.9749A>T (p.Asp3250Val)
c.9683A>T (p.Asp3228Val)
c.9746A>T (p.Asp3249Val)
c.9743A>T (p.Asp3248Val)
c.9689A>T (p.Asp3230Val)
c.9659A>T (p.Asp3220Val)
c.9614A>T (p.Asp3205Val)
c.9209A>T (p.Asp3070Val)
c.8567A>T (p.Asp2856Val)
c.6077A>T (p.Asp2026Val)
10g.71812814_71812819delCA594706299CDH23c.9557_9562del (p.Arg3186_Tyr3187del)
c.3490_3495del (n.3490_3495del)
c.3154_3159del (n.3154_3159del)
c.9572_9577del (p.Arg3191_Tyr3192del)
c.2837_2842del (p.Arg946_Tyr947del)
n.3093_3098del
c.248_253del (p.Arg83_Tyr84del)
c.9752_9757del (p.Arg3251_Tyr3252del)
c.9686_9691del (p.Arg3229_Tyr3230del)
c.9749_9754del (p.Arg3250_Tyr3251del)
c.9746_9751del (p.Arg3249_Tyr3250del)
c.9692_9697del (p.Arg3231_Tyr3232del)
c.9662_9667del (p.Arg3221_Tyr3222del)
c.9617_9622del (p.Arg3206_Tyr3207del)
c.9212_9217del (p.Arg3071_Tyr3072del)
c.8570_8575del (p.Arg2857_Tyr2858del)
c.6080_6085del (p.Arg2027_Tyr2028del)
 dbSNP gnomAD v2 gnomAD v4
10g.71812812C>ACA377137025CDH23c.9555C>A (p.Asp3185Glu)
c.3488C>A (n.3488C>A)
c.3152C>A (n.3152C>A)
c.9570C>A (p.Asp3190Glu)
c.2835C>A (p.Asp945Glu)
n.3091C>A
c.246C>A (p.Asp82Glu)
c.9750C>A (p.Asp3250Glu)
c.9684C>A (p.Asp3228Glu)
c.9747C>A (p.Asp3249Glu)
c.9744C>A (p.Asp3248Glu)
c.9690C>A (p.Asp3230Glu)
c.9660C>A (p.Asp3220Glu)
c.9615C>A (p.Asp3205Glu)
c.9210C>A (p.Asp3070Glu)
c.8568C>A (p.Asp2856Glu)
c.6078C>A (p.Asp2026Glu)
10g.71812812C=CA1918892723CDH23c.9555C= (p.Asp3185=)
c.3488C= (n.3488C=)
c.3152C= (n.3152C=)
c.9570C= (p.Asp3190=)
c.2835C= (p.Asp945=)
n.3091C=
c.246C= (p.Asp82=)
c.9750C= (p.Asp3250=)
c.9684C= (p.Asp3228=)
c.9747C= (p.Asp3249=)
c.9744C= (p.Asp3248=)
c.9690C= (p.Asp3230=)
c.9660C= (p.Asp3220=)
c.9615C= (p.Asp3205=)
c.9210C= (p.Asp3070=)
c.8568C= (p.Asp2856=)
c.6078C= (p.Asp2026=)
10g.71812812C>GCA377137026CDH23c.9555C>G (p.Asp3185Glu)
c.3488C>G (n.3488C>G)
c.3152C>G (n.3152C>G)
c.9570C>G (p.Asp3190Glu)
c.2835C>G (p.Asp945Glu)
n.3091C>G
c.246C>G (p.Asp82Glu)
c.9750C>G (p.Asp3250Glu)
c.9684C>G (p.Asp3228Glu)
c.9747C>G (p.Asp3249Glu)
c.9744C>G (p.Asp3248Glu)
c.9690C>G (p.Asp3230Glu)
c.9660C>G (p.Asp3220Glu)
c.9615C>G (p.Asp3205Glu)
c.9210C>G (p.Asp3070Glu)
c.8568C>G (p.Asp2856Glu)
c.6078C>G (p.Asp2026Glu)
10g.71812812C>TCA470282835CDH23c.9555C>T (p.Asp3185=)
c.3488C>T (n.3488C>T)
c.3152C>T (n.3152C>T)
c.9570C>T (p.Asp3190=)
c.2835C>T (p.Asp945=)
n.3091C>T
c.246C>T (p.Asp82=)
c.9750C>T (p.Asp3250=)
c.9684C>T (p.Asp3228=)
c.9747C>T (p.Asp3249=)
c.9744C>T (p.Asp3248=)
c.9690C>T (p.Asp3230=)
c.9660C>T (p.Asp3220=)
c.9615C>T (p.Asp3205=)
c.9210C>T (p.Asp3070=)
c.8568C>T (p.Asp2856=)
c.6078C>T (p.Asp2026=)
 ClinVar dbSNP gnomAD v4
10g.71812813C>ACA470282836CDH23c.9556C>A (p.Arg3186=)
c.3489C>A (n.3489C>A)
c.3153C>A (n.3153C>A)
c.9571C>A (p.Arg3191=)
c.2836C>A (p.Arg946=)
n.3092C>A
c.247C>A (p.Arg83=)
c.9751C>A (p.Arg3251=)
c.9685C>A (p.Arg3229=)
c.9748C>A (p.Arg3250=)
c.9745C>A (p.Arg3249=)
c.9691C>A (p.Arg3231=)
c.9661C>A (p.Arg3221=)
c.9616C>A (p.Arg3206=)
c.9211C>A (p.Arg3071=)
c.8569C>A (p.Arg2857=)
c.6079C>A (p.Arg2027=)
 ClinVar
10g.71812813C=CA1918892729CDH23c.9556C= (p.Arg3186=)
c.3489C= (n.3489C=)
c.3153C= (n.3153C=)
c.9571C= (p.Arg3191=)
c.2836C= (p.Arg946=)
n.3092C=
c.247C= (p.Arg83=)
c.9751C= (p.Arg3251=)
c.9685C= (p.Arg3229=)
c.9748C= (p.Arg3250=)
c.9745C= (p.Arg3249=)
c.9691C= (p.Arg3231=)
c.9661C= (p.Arg3221=)
c.9616C= (p.Arg3206=)
c.9211C= (p.Arg3071=)
c.8569C= (p.Arg2857=)
c.6079C= (p.Arg2027=)
10g.71812813C>GCA5547126CDH23c.9556C>G (p.Arg3186Gly)
c.3489C>G (n.3489C>G)
c.3153C>G (n.3153C>G)
c.9571C>G (p.Arg3191Gly)
c.2836C>G (p.Arg946Gly)
n.3092C>G
c.247C>G (p.Arg83Gly)
c.9751C>G (p.Arg3251Gly)
c.9685C>G (p.Arg3229Gly)
c.9748C>G (p.Arg3250Gly)
c.9745C>G (p.Arg3249Gly)
c.9691C>G (p.Arg3231Gly)
c.9661C>G (p.Arg3221Gly)
c.9616C>G (p.Arg3206Gly)
c.9211C>G (p.Arg3071Gly)
c.8569C>G (p.Arg2857Gly)
c.6079C>G (p.Arg2027Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71812813C>TCA10576821CDH23c.9556C>T (p.Arg3186Ter)
c.3489C>T (n.3489C>T)
c.3153C>T (n.3153C>T)
c.9571C>T (p.Arg3191Ter)
c.2836C>T (p.Arg946Ter)
n.3092C>T
c.247C>T (p.Arg83Ter)
c.9751C>T (p.Arg3251Ter)
c.9685C>T (p.Arg3229Ter)
c.9748C>T (p.Arg3250Ter)
c.9745C>T (p.Arg3249Ter)
c.9691C>T (p.Arg3231Ter)
c.9661C>T (p.Arg3221Ter)
c.9616C>T (p.Arg3206Ter)
c.9211C>T (p.Arg3071Ter)
c.8569C>T (p.Arg2857Ter)
c.6079C>T (p.Arg2027Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71812814G>ACA5547127CDH23c.9557G>A (p.Arg3186Gln)
c.3490G>A (n.3490G>A)
c.3154G>A (n.3154G>A)
c.9572G>A (p.Arg3191Gln)
c.2837G>A (p.Arg946Gln)
n.3093G>A
c.248G>A (p.Arg83Gln)
c.9752G>A (p.Arg3251Gln)
c.9686G>A (p.Arg3229Gln)
c.9749G>A (p.Arg3250Gln)
c.9746G>A (p.Arg3249Gln)
c.9692G>A (p.Arg3231Gln)
c.9662G>A (p.Arg3221Gln)
c.9617G>A (p.Arg3206Gln)
c.9212G>A (p.Arg3071Gln)
c.8570G>A (p.Arg2857Gln)
c.6080G>A (p.Arg2027Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71812814G>CCA377137028CDH23c.9557G>C (p.Arg3186Pro)
c.3490G>C (n.3490G>C)
c.3154G>C (n.3154G>C)
c.9572G>C (p.Arg3191Pro)
c.2837G>C (p.Arg946Pro)
n.3093G>C
c.248G>C (p.Arg83Pro)
c.9752G>C (p.Arg3251Pro)
c.9686G>C (p.Arg3229Pro)
c.9749G>C (p.Arg3250Pro)
c.9746G>C (p.Arg3249Pro)
c.9692G>C (p.Arg3231Pro)
c.9662G>C (p.Arg3221Pro)
c.9617G>C (p.Arg3206Pro)
c.9212G>C (p.Arg3071Pro)
c.8570G>C (p.Arg2857Pro)
c.6080G>C (p.Arg2027Pro)
 gnomAD v4
10g.71812814G=CA1918892733CDH23c.9557G= (p.Arg3186=)
c.3490G= (n.3490G=)
c.3154G= (n.3154G=)
c.9572G= (p.Arg3191=)
c.2837G= (p.Arg946=)
n.3093G=
c.248G= (p.Arg83=)
c.9752G= (p.Arg3251=)
c.9686G= (p.Arg3229=)
c.9749G= (p.Arg3250=)
c.9746G= (p.Arg3249=)
c.9692G= (p.Arg3231=)
c.9662G= (p.Arg3221=)
c.9617G= (p.Arg3206=)
c.9212G= (p.Arg3071=)
c.8570G= (p.Arg2857=)
c.6080G= (p.Arg2027=)
10g.71812814G>TCA377137027CDH23c.9557G>T (p.Arg3186Leu)
c.3490G>T (n.3490G>T)
c.3154G>T (n.3154G>T)
c.9572G>T (p.Arg3191Leu)
c.2837G>T (p.Arg946Leu)
n.3093G>T
c.248G>T (p.Arg83Leu)
c.9752G>T (p.Arg3251Leu)
c.9686G>T (p.Arg3229Leu)
c.9749G>T (p.Arg3250Leu)
c.9746G>T (p.Arg3249Leu)
c.9692G>T (p.Arg3231Leu)
c.9662G>T (p.Arg3221Leu)
c.9617G>T (p.Arg3206Leu)
c.9212G>T (p.Arg3071Leu)
c.8570G>T (p.Arg2857Leu)
c.6080G>T (p.Arg2027Leu)
10g.71812815A>CCA470282839CDH23c.9558A>C (p.Arg3186=)
c.3491A>C (n.3491A>C)
c.3155A>C (n.3155A>C)
c.9573A>C (p.Arg3191=)
c.2838A>C (p.Arg946=)
n.3094A>C
c.249A>C (p.Arg83=)
c.9753A>C (p.Arg3251=)
c.9687A>C (p.Arg3229=)
c.9750A>C (p.Arg3250=)
c.9747A>C (p.Arg3249=)
c.9693A>C (p.Arg3231=)
c.9663A>C (p.Arg3221=)
c.9618A>C (p.Arg3206=)
c.9213A>C (p.Arg3071=)
c.8571A>C (p.Arg2857=)
c.6081A>C (p.Arg2027=)
10g.71812815A>GCA470282840CDH23c.9558A>G (p.Arg3186=)
c.3491A>G (n.3491A>G)
c.3155A>G (n.3155A>G)
c.9573A>G (p.Arg3191=)
c.2838A>G (p.Arg946=)
n.3094A>G
c.249A>G (p.Arg83=)
c.9753A>G (p.Arg3251=)
c.9687A>G (p.Arg3229=)
c.9750A>G (p.Arg3250=)
c.9747A>G (p.Arg3249=)
c.9693A>G (p.Arg3231=)
c.9663A>G (p.Arg3221=)
c.9618A>G (p.Arg3206=)
c.9213A>G (p.Arg3071=)
c.8571A>G (p.Arg2857=)
c.6081A>G (p.Arg2027=)
10g.71812815A>TCA470282841CDH23c.9558A>T (p.Arg3186=)
c.3491A>T (n.3491A>T)
c.3155A>T (n.3155A>T)
c.9573A>T (p.Arg3191=)
c.2838A>T (p.Arg946=)
n.3094A>T
c.249A>T (p.Arg83=)
c.9753A>T (p.Arg3251=)
c.9687A>T (p.Arg3229=)
c.9750A>T (p.Arg3250=)
c.9747A>T (p.Arg3249=)
c.9693A>T (p.Arg3231=)
c.9663A>T (p.Arg3221=)
c.9618A>T (p.Arg3206=)
c.9213A>T (p.Arg3071=)
c.8571A>T (p.Arg2857=)
c.6081A>T (p.Arg2027=)
 gnomAD v4
10g.71812816T>ACA377137029CDH23c.9559T>A (p.Tyr3187Asn)
c.3492T>A (n.3492T>A)
c.3156T>A (n.3156T>A)
c.9574T>A (p.Tyr3192Asn)
c.2839T>A (p.Tyr947Asn)
n.3095T>A
c.250T>A (p.Tyr84Asn)
c.9754T>A (p.Tyr3252Asn)
c.9688T>A (p.Tyr3230Asn)
c.9751T>A (p.Tyr3251Asn)
c.9748T>A (p.Tyr3250Asn)
c.9694T>A (p.Tyr3232Asn)
c.9664T>A (p.Tyr3222Asn)
c.9619T>A (p.Tyr3207Asn)
c.9214T>A (p.Tyr3072Asn)
c.8572T>A (p.Tyr2858Asn)
c.6082T>A (p.Tyr2028Asn)
10g.71812816T>CCA377137030CDH23c.9559T>C (p.Tyr3187His)
c.3492T>C (n.3492T>C)
c.3156T>C (n.3156T>C)
c.9574T>C (p.Tyr3192His)
c.2839T>C (p.Tyr947His)
n.3095T>C
c.250T>C (p.Tyr84His)
c.9754T>C (p.Tyr3252His)
c.9688T>C (p.Tyr3230His)
c.9751T>C (p.Tyr3251His)
c.9748T>C (p.Tyr3250His)
c.9694T>C (p.Tyr3232His)
c.9664T>C (p.Tyr3222His)
c.9619T>C (p.Tyr3207His)
c.9214T>C (p.Tyr3072His)
c.8572T>C (p.Tyr2858His)
c.6082T>C (p.Tyr2028His)
10g.71812816T>GCA377137031CDH23c.9559T>G (p.Tyr3187Asp)
c.3492T>G (n.3492T>G)
c.3156T>G (n.3156T>G)
c.9574T>G (p.Tyr3192Asp)
c.2839T>G (p.Tyr947Asp)
n.3095T>G
c.250T>G (p.Tyr84Asp)
c.9754T>G (p.Tyr3252Asp)
c.9688T>G (p.Tyr3230Asp)
c.9751T>G (p.Tyr3251Asp)
c.9748T>G (p.Tyr3250Asp)
c.9694T>G (p.Tyr3232Asp)
c.9664T>G (p.Tyr3222Asp)
c.9619T>G (p.Tyr3207Asp)
c.9214T>G (p.Tyr3072Asp)
c.8572T>G (p.Tyr2858Asp)
c.6082T>G (p.Tyr2028Asp)
10g.71812817A>CCA377137032CDH23c.9560A>C (p.Tyr3187Ser)
c.3493A>C (n.3493A>C)
c.3157A>C (n.3157A>C)
c.9575A>C (p.Tyr3192Ser)
c.2840A>C (p.Tyr947Ser)
n.3096A>C
c.251A>C (p.Tyr84Ser)
c.9755A>C (p.Tyr3252Ser)
c.9689A>C (p.Tyr3230Ser)
c.9752A>C (p.Tyr3251Ser)
c.9749A>C (p.Tyr3250Ser)
c.9695A>C (p.Tyr3232Ser)
c.9665A>C (p.Tyr3222Ser)
c.9620A>C (p.Tyr3207Ser)
c.9215A>C (p.Tyr3072Ser)
c.8573A>C (p.Tyr2858Ser)
c.6083A>C (p.Tyr2028Ser)
10g.71812817A>GCA377137033CDH23c.9560A>G (p.Tyr3187Cys)
c.3493A>G (n.3493A>G)
c.3157A>G (n.3157A>G)
c.9575A>G (p.Tyr3192Cys)
c.2840A>G (p.Tyr947Cys)
n.3096A>G
c.251A>G (p.Tyr84Cys)
c.9755A>G (p.Tyr3252Cys)
c.9689A>G (p.Tyr3230Cys)
c.9752A>G (p.Tyr3251Cys)
c.9749A>G (p.Tyr3250Cys)
c.9695A>G (p.Tyr3232Cys)
c.9665A>G (p.Tyr3222Cys)
c.9620A>G (p.Tyr3207Cys)
c.9215A>G (p.Tyr3072Cys)
c.8573A>G (p.Tyr2858Cys)
c.6083A>G (p.Tyr2028Cys)
10g.71812817A>TCA377137034CDH23c.9560A>T (p.Tyr3187Phe)
c.3493A>T (n.3493A>T)
c.3157A>T (n.3157A>T)
c.9575A>T (p.Tyr3192Phe)
c.2840A>T (p.Tyr947Phe)
n.3096A>T
c.251A>T (p.Tyr84Phe)
c.9755A>T (p.Tyr3252Phe)
c.9689A>T (p.Tyr3230Phe)
c.9752A>T (p.Tyr3251Phe)
c.9749A>T (p.Tyr3250Phe)
c.9695A>T (p.Tyr3232Phe)
c.9665A>T (p.Tyr3222Phe)
c.9620A>T (p.Tyr3207Phe)
c.9215A>T (p.Tyr3072Phe)
c.8573A>T (p.Tyr2858Phe)
c.6083A>T (p.Tyr2028Phe)
10g.71812818C>ACA377137035CDH23c.9561C>A (p.Tyr3187Ter)
c.3494C>A (n.3494C>A)
c.3158C>A (n.3158C>A)
c.9576C>A (p.Tyr3192Ter)
c.2841C>A (p.Tyr947Ter)
n.3097C>A
c.252C>A (p.Tyr84Ter)
c.9756C>A (p.Tyr3252Ter)
c.9690C>A (p.Tyr3230Ter)
c.9753C>A (p.Tyr3251Ter)
c.9750C>A (p.Tyr3250Ter)
c.9696C>A (p.Tyr3232Ter)
c.9666C>A (p.Tyr3222Ter)
c.9621C>A (p.Tyr3207Ter)
c.9216C>A (p.Tyr3072Ter)
c.8574C>A (p.Tyr2858Ter)
c.6084C>A (p.Tyr2028Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71812818C=CA1918892735CDH23c.9561C= (p.Tyr3187=)
c.3494C= (n.3494C=)
c.3158C= (n.3158C=)
c.9576C= (p.Tyr3192=)
c.2841C= (p.Tyr947=)
n.3097C=
c.252C= (p.Tyr84=)
c.9756C= (p.Tyr3252=)
c.9690C= (p.Tyr3230=)
c.9753C= (p.Tyr3251=)
c.9750C= (p.Tyr3250=)
c.9696C= (p.Tyr3232=)
c.9666C= (p.Tyr3222=)
c.9621C= (p.Tyr3207=)
c.9216C= (p.Tyr3072=)
c.8574C= (p.Tyr2858=)
c.6084C= (p.Tyr2028=)
10g.71812818C>GCA377137036CDH23c.9561C>G (p.Tyr3187Ter)
c.3494C>G (n.3494C>G)
c.3158C>G (n.3158C>G)
c.9576C>G (p.Tyr3192Ter)
c.2841C>G (p.Tyr947Ter)
n.3097C>G
c.252C>G (p.Tyr84Ter)
c.9756C>G (p.Tyr3252Ter)
c.9690C>G (p.Tyr3230Ter)
c.9753C>G (p.Tyr3251Ter)
c.9750C>G (p.Tyr3250Ter)
c.9696C>G (p.Tyr3232Ter)
c.9666C>G (p.Tyr3222Ter)
c.9621C>G (p.Tyr3207Ter)
c.9216C>G (p.Tyr3072Ter)
c.8574C>G (p.Tyr2858Ter)
c.6084C>G (p.Tyr2028Ter)
10g.71812818C>TCA470282843CDH23c.9561C>T (p.Tyr3187=)
c.3494C>T (n.3494C>T)
c.3158C>T (n.3158C>T)
c.9576C>T (p.Tyr3192=)
c.2841C>T (p.Tyr947=)
n.3097C>T
c.252C>T (p.Tyr84=)
c.9756C>T (p.Tyr3252=)
c.9690C>T (p.Tyr3230=)
c.9753C>T (p.Tyr3251=)
c.9750C>T (p.Tyr3250=)
c.9696C>T (p.Tyr3232=)
c.9666C>T (p.Tyr3222=)
c.9621C>T (p.Tyr3207=)
c.9216C>T (p.Tyr3072=)
c.8574C>T (p.Tyr2858=)
c.6084C>T (p.Tyr2028=)
 dbSNP gnomAD v2 gnomAD v4
10g.71812819C>ACA377137037CDH23c.9562C>A (p.Leu3188Met)
c.3495C>A (n.3495C>A)
c.3159C>A (n.3159C>A)
c.9577C>A (p.Leu3193Met)
c.2842C>A (p.Leu948Met)
n.3098C>A
c.253C>A (p.Leu85Met)
c.9757C>A (p.Leu3253Met)
c.9691C>A (p.Leu3231Met)
c.9754C>A (p.Leu3252Met)
c.9751C>A (p.Leu3251Met)
c.9697C>A (p.Leu3233Met)
c.9667C>A (p.Leu3223Met)
c.9622C>A (p.Leu3208Met)
c.9217C>A (p.Leu3073Met)
c.8575C>A (p.Leu2859Met)
c.6085C>A (p.Leu2029Met)
10g.71812819C>GCA377137038CDH23c.9562C>G (p.Leu3188Val)
c.3495C>G (n.3495C>G)
c.3159C>G (n.3159C>G)
c.9577C>G (p.Leu3193Val)
c.2842C>G (p.Leu948Val)
n.3098C>G
c.253C>G (p.Leu85Val)
c.9757C>G (p.Leu3253Val)
c.9691C>G (p.Leu3231Val)
c.9754C>G (p.Leu3252Val)
c.9751C>G (p.Leu3251Val)
c.9697C>G (p.Leu3233Val)
c.9667C>G (p.Leu3223Val)
c.9622C>G (p.Leu3208Val)
c.9217C>G (p.Leu3073Val)
c.8575C>G (p.Leu2859Val)
c.6085C>G (p.Leu2029Val)
10g.71812819C>TCA470282845CDH23c.9562C>T (p.Leu3188=)
c.3495C>T (n.3495C>T)
c.3159C>T (n.3159C>T)
c.9577C>T (p.Leu3193=)
c.2842C>T (p.Leu948=)
n.3098C>T
c.253C>T (p.Leu85=)
c.9757C>T (p.Leu3253=)
c.9691C>T (p.Leu3231=)
c.9754C>T (p.Leu3252=)
c.9751C>T (p.Leu3251=)
c.9697C>T (p.Leu3233=)
c.9667C>T (p.Leu3223=)
c.9622C>T (p.Leu3208=)
c.9217C>T (p.Leu3073=)
c.8575C>T (p.Leu2859=)
c.6085C>T (p.Leu2029=)
10g.71812820T>ACA377137039CDH23c.9563T>A (p.Leu3188Gln)
c.3496T>A (n.3496T>A)
c.3160T>A (n.3160T>A)
c.9578T>A (p.Leu3193Gln)
c.2843T>A (p.Leu948Gln)
n.3099T>A
c.254T>A (p.Leu85Gln)
c.9758T>A (p.Leu3253Gln)
c.9692T>A (p.Leu3231Gln)
c.9755T>A (p.Leu3252Gln)
c.9752T>A (p.Leu3251Gln)
c.9698T>A (p.Leu3233Gln)
c.9668T>A (p.Leu3223Gln)
c.9623T>A (p.Leu3208Gln)
c.9218T>A (p.Leu3073Gln)
c.8576T>A (p.Leu2859Gln)
c.6086T>A (p.Leu2029Gln)
10g.71812820T>CCA377137040CDH23c.9563T>C (p.Leu3188Pro)
c.3496T>C (n.3496T>C)
c.3160T>C (n.3160T>C)
c.9578T>C (p.Leu3193Pro)
c.2843T>C (p.Leu948Pro)
n.3099T>C
c.254T>C (p.Leu85Pro)
c.9758T>C (p.Leu3253Pro)
c.9692T>C (p.Leu3231Pro)
c.9755T>C (p.Leu3252Pro)
c.9752T>C (p.Leu3251Pro)
c.9698T>C (p.Leu3233Pro)
c.9668T>C (p.Leu3223Pro)
c.9623T>C (p.Leu3208Pro)
c.9218T>C (p.Leu3073Pro)
c.8576T>C (p.Leu2859Pro)
c.6086T>C (p.Leu2029Pro)
10g.71812820T>GCA377137041CDH23c.9563T>G (p.Leu3188Arg)
c.3496T>G (n.3496T>G)
c.3160T>G (n.3160T>G)
c.9578T>G (p.Leu3193Arg)
c.2843T>G (p.Leu948Arg)
n.3099T>G
c.254T>G (p.Leu85Arg)
c.9758T>G (p.Leu3253Arg)
c.9692T>G (p.Leu3231Arg)
c.9755T>G (p.Leu3252Arg)
c.9752T>G (p.Leu3251Arg)
c.9698T>G (p.Leu3233Arg)
c.9668T>G (p.Leu3223Arg)
c.9623T>G (p.Leu3208Arg)
c.9218T>G (p.Leu3073Arg)
c.8576T>G (p.Leu2859Arg)
c.6086T>G (p.Leu2029Arg)
 gnomAD v4
10g.71812821G>ACA470282848CDH23c.9564G>A (p.Leu3188=)
c.3497G>A (n.3497G>A)
c.3161G>A (n.3161G>A)
c.9579G>A (p.Leu3193=)
c.2844G>A (p.Leu948=)
n.3100G>A
c.255G>A (p.Leu85=)
c.9759G>A (p.Leu3253=)
c.9693G>A (p.Leu3231=)
c.9756G>A (p.Leu3252=)
c.9753G>A (p.Leu3251=)
c.9699G>A (p.Leu3233=)
c.9669G>A (p.Leu3223=)
c.9624G>A (p.Leu3208=)
c.9219G>A (p.Leu3073=)
c.8577G>A (p.Leu2859=)
c.6087G>A (p.Leu2029=)
 dbSNP gnomAD v2 gnomAD v4
10g.71812821G>CCA470282849CDH23c.9564G>C (p.Leu3188=)
c.3497G>C (n.3497G>C)
c.3161G>C (n.3161G>C)
c.9579G>C (p.Leu3193=)
c.2844G>C (p.Leu948=)
n.3100G>C
c.255G>C (p.Leu85=)
c.9759G>C (p.Leu3253=)
c.9693G>C (p.Leu3231=)
c.9756G>C (p.Leu3252=)
c.9753G>C (p.Leu3251=)
c.9699G>C (p.Leu3233=)
c.9669G>C (p.Leu3223=)
c.9624G>C (p.Leu3208=)
c.9219G>C (p.Leu3073=)
c.8577G>C (p.Leu2859=)
c.6087G>C (p.Leu2029=)
10g.71812821G=CA1918892738CDH23c.9564G= (p.Leu3188=)
c.3497G= (n.3497G=)
c.3161G= (n.3161G=)
c.9579G= (p.Leu3193=)
c.2844G= (p.Leu948=)
n.3100G=
c.255G= (p.Leu85=)
c.9759G= (p.Leu3253=)
c.9693G= (p.Leu3231=)
c.9756G= (p.Leu3252=)
c.9753G= (p.Leu3251=)
c.9699G= (p.Leu3233=)
c.9669G= (p.Leu3223=)
c.9624G= (p.Leu3208=)
c.9219G= (p.Leu3073=)
c.8577G= (p.Leu2859=)
c.6087G= (p.Leu2029=)
10g.71812821G>TCA470282851CDH23c.9564G>T (p.Leu3188=)
c.3497G>T (n.3497G>T)
c.3161G>T (n.3161G>T)
c.9579G>T (p.Leu3193=)
c.2844G>T (p.Leu948=)
n.3100G>T
c.255G>T (p.Leu85=)
c.9759G>T (p.Leu3253=)
c.9693G>T (p.Leu3231=)
c.9756G>T (p.Leu3252=)
c.9753G>T (p.Leu3251=)
c.9699G>T (p.Leu3233=)
c.9669G>T (p.Leu3223=)
c.9624G>T (p.Leu3208=)
c.9219G>T (p.Leu3073=)
c.8577G>T (p.Leu2859=)
c.6087G>T (p.Leu2029=)
10g.71812822C>ACA470282852CDH23c.9565C>A (p.Arg3189=)
c.3498C>A (n.3498C>A)
c.3162C>A (n.3162C>A)
c.9580C>A (p.Arg3194=)
c.2845C>A (p.Arg949=)
n.3101C>A
c.256C>A (p.Arg86=)
c.9760C>A (p.Arg3254=)
c.9694C>A (p.Arg3232=)
c.9757C>A (p.Arg3253=)
c.9754C>A (p.Arg3252=)
c.9700C>A (p.Arg3234=)
c.9670C>A (p.Arg3224=)
c.9625C>A (p.Arg3209=)
c.9220C>A (p.Arg3074=)
c.8578C>A (p.Arg2860=)
c.6088C>A (p.Arg2030=)
 gnomAD v4
10g.71812822C=CA1918892748CDH23c.9565C= (p.Arg3189=)
c.3498C= (n.3498C=)
c.3162C= (n.3162C=)
c.9580C= (p.Arg3194=)
c.2845C= (p.Arg949=)
n.3101C=
c.256C= (p.Arg86=)
c.9760C= (p.Arg3254=)
c.9694C= (p.Arg3232=)
c.9757C= (p.Arg3253=)
c.9754C= (p.Arg3252=)
c.9700C= (p.Arg3234=)
c.9670C= (p.Arg3224=)
c.9625C= (p.Arg3209=)
c.9220C= (p.Arg3074=)
c.8578C= (p.Arg2860=)
c.6088C= (p.Arg2030=)
10g.71812822C>GCA5547128CDH23c.9565C>G (p.Arg3189Gly)
c.3498C>G (n.3498C>G)
c.3162C>G (n.3162C>G)
c.9580C>G (p.Arg3194Gly)
c.2845C>G (p.Arg949Gly)
n.3101C>G
c.256C>G (p.Arg86Gly)
c.9760C>G (p.Arg3254Gly)
c.9694C>G (p.Arg3232Gly)
c.9757C>G (p.Arg3253Gly)
c.9754C>G (p.Arg3252Gly)
c.9700C>G (p.Arg3234Gly)
c.9670C>G (p.Arg3224Gly)
c.9625C>G (p.Arg3209Gly)
c.9220C>G (p.Arg3074Gly)
c.8578C>G (p.Arg2860Gly)
c.6088C>G (p.Arg2030Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71812822C>TCA117145CDH23c.9565C>T (p.Arg3189Trp)
c.3498C>T (n.3498C>T)
c.3162C>T (n.3162C>T)
c.9580C>T (p.Arg3194Trp)
c.2845C>T (p.Arg949Trp)
n.3101C>T
c.256C>T (p.Arg86Trp)
c.9760C>T (p.Arg3254Trp)
c.9694C>T (p.Arg3232Trp)
c.9757C>T (p.Arg3253Trp)
c.9754C>T (p.Arg3252Trp)
c.9700C>T (p.Arg3234Trp)
c.9670C>T (p.Arg3224Trp)
c.9625C>T (p.Arg3209Trp)
c.9220C>T (p.Arg3074Trp)
c.8578C>T (p.Arg2860Trp)
c.6088C>T (p.Arg2030Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71812823G>ACA175533CDH23c.9566G>A (p.Arg3189Gln)
c.3499G>A (n.3499G>A)
c.3163G>A (n.3163G>A)
c.9581G>A (p.Arg3194Gln)
c.2846G>A (p.Arg949Gln)
n.3102G>A
c.257G>A (p.Arg86Gln)
c.9761G>A (p.Arg3254Gln)
c.9695G>A (p.Arg3232Gln)
c.9758G>A (p.Arg3253Gln)
c.9755G>A (p.Arg3252Gln)
c.9701G>A (p.Arg3234Gln)
c.9671G>A (p.Arg3224Gln)
c.9626G>A (p.Arg3209Gln)
c.9221G>A (p.Arg3074Gln)
c.8579G>A (p.Arg2860Gln)
c.6089G>A (p.Arg2030Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71812823G>CCA377137042CDH23c.9566G>C (p.Arg3189Pro)
c.3499G>C (n.3499G>C)
c.3163G>C (n.3163G>C)
c.9581G>C (p.Arg3194Pro)
c.2846G>C (p.Arg949Pro)
n.3102G>C
c.257G>C (p.Arg86Pro)
c.9761G>C (p.Arg3254Pro)
c.9695G>C (p.Arg3232Pro)
c.9758G>C (p.Arg3253Pro)
c.9755G>C (p.Arg3252Pro)
c.9701G>C (p.Arg3234Pro)
c.9671G>C (p.Arg3224Pro)
c.9626G>C (p.Arg3209Pro)
c.9221G>C (p.Arg3074Pro)
c.8579G>C (p.Arg2860Pro)
c.6089G>C (p.Arg2030Pro)
 gnomAD v4
10g.71812823G=CA1918892754CDH23c.9566G= (p.Arg3189=)
c.3499G= (n.3499G=)
c.3163G= (n.3163G=)
c.9581G= (p.Arg3194=)
c.2846G= (p.Arg949=)
n.3102G=
c.257G= (p.Arg86=)
c.9761G= (p.Arg3254=)
c.9695G= (p.Arg3232=)
c.9758G= (p.Arg3253=)
c.9755G= (p.Arg3252=)
c.9701G= (p.Arg3234=)
c.9671G= (p.Arg3224=)
c.9626G= (p.Arg3209=)
c.9221G= (p.Arg3074=)
c.8579G= (p.Arg2860=)
c.6089G= (p.Arg2030=)
10g.71812823G>TCA377137043CDH23c.9566G>T (p.Arg3189Leu)
c.3499G>T (n.3499G>T)
c.3163G>T (n.3163G>T)
c.9581G>T (p.Arg3194Leu)
c.2846G>T (p.Arg949Leu)
n.3102G>T
c.257G>T (p.Arg86Leu)
c.9761G>T (p.Arg3254Leu)
c.9695G>T (p.Arg3232Leu)
c.9758G>T (p.Arg3253Leu)
c.9755G>T (p.Arg3252Leu)
c.9701G>T (p.Arg3234Leu)
c.9671G>T (p.Arg3224Leu)
c.9626G>T (p.Arg3209Leu)
c.9221G>T (p.Arg3074Leu)
c.8579G>T (p.Arg2860Leu)
c.6089G>T (p.Arg2030Leu)
 COSMIC
10g.71812824G>ACA470282855CDH23c.9567G>A (p.Arg3189=)
c.3500G>A (n.3500G>A)
c.3164G>A (n.3164G>A)
c.9582G>A (p.Arg3194=)
c.2847G>A (p.Arg949=)
n.3103G>A
c.258G>A (p.Arg86=)
c.9762G>A (p.Arg3254=)
c.9696G>A (p.Arg3232=)
c.9759G>A (p.Arg3253=)
c.9756G>A (p.Arg3252=)
c.9702G>A (p.Arg3234=)
c.9672G>A (p.Arg3224=)
c.9627G>A (p.Arg3209=)
c.9222G>A (p.Arg3074=)
c.8580G>A (p.Arg2860=)
c.6090G>A (p.Arg2030=)
 ClinVar dbSNP gnomAD v4
10g.71812824G>CCA470282856CDH23c.9567G>C (p.Arg3189=)
c.3500G>C (n.3500G>C)
c.3164G>C (n.3164G>C)
c.9582G>C (p.Arg3194=)
c.2847G>C (p.Arg949=)
n.3103G>C
c.258G>C (p.Arg86=)
c.9762G>C (p.Arg3254=)
c.9696G>C (p.Arg3232=)
c.9759G>C (p.Arg3253=)
c.9756G>C (p.Arg3252=)
c.9702G>C (p.Arg3234=)
c.9672G>C (p.Arg3224=)
c.9627G>C (p.Arg3209=)
c.9222G>C (p.Arg3074=)
c.8580G>C (p.Arg2860=)
c.6090G>C (p.Arg2030=)
10g.71812824G>TCA470282857CDH23c.9567G>T (p.Arg3189=)
c.3500G>T (n.3500G>T)
c.3164G>T (n.3164G>T)
c.9582G>T (p.Arg3194=)
c.2847G>T (p.Arg949=)
n.3103G>T
c.258G>T (p.Arg86=)
c.9762G>T (p.Arg3254=)
c.9696G>T (p.Arg3232=)
c.9759G>T (p.Arg3253=)
c.9756G>T (p.Arg3252=)
c.9702G>T (p.Arg3234=)
c.9672G>T (p.Arg3224=)
c.9627G>T (p.Arg3209=)
c.9222G>T (p.Arg3074=)
c.8580G>T (p.Arg2860=)
c.6090G>T (p.Arg2030=)
10g.71812825G>ACA377137044CDH23c.9568G>A (p.Ala3190Thr)
c.3501G>A (n.3501G>A)
c.3165G>A (n.3165G>A)
c.9583G>A (p.Ala3195Thr)
c.2848G>A (p.Ala950Thr)
n.3104G>A
c.259G>A (p.Ala87Thr)
c.9763G>A (p.Ala3255Thr)
c.9697G>A (p.Ala3233Thr)
c.9760G>A (p.Ala3254Thr)
c.9757G>A (p.Ala3253Thr)
c.9703G>A (p.Ala3235Thr)
c.9673G>A (p.Ala3225Thr)
c.9628G>A (p.Ala3210Thr)
c.9223G>A (p.Ala3075Thr)
c.8581G>A (p.Ala2861Thr)
c.6091G>A (p.Ala2031Thr)
 gnomAD v4
10g.71812825G>CCA377137045CDH23c.9568G>C (p.Ala3190Pro)
c.3501G>C (n.3501G>C)
c.3165G>C (n.3165G>C)
c.9583G>C (p.Ala3195Pro)
c.2848G>C (p.Ala950Pro)
n.3104G>C
c.259G>C (p.Ala87Pro)
c.9763G>C (p.Ala3255Pro)
c.9697G>C (p.Ala3233Pro)
c.9760G>C (p.Ala3254Pro)
c.9757G>C (p.Ala3253Pro)
c.9703G>C (p.Ala3235Pro)
c.9673G>C (p.Ala3225Pro)
c.9628G>C (p.Ala3210Pro)
c.9223G>C (p.Ala3075Pro)
c.8581G>C (p.Ala2861Pro)
c.6091G>C (p.Ala2031Pro)
10g.71812825G>TCA377137046CDH23c.9568G>T (p.Ala3190Ser)
c.3501G>T (n.3501G>T)
c.3165G>T (n.3165G>T)
c.9583G>T (p.Ala3195Ser)
c.2848G>T (p.Ala950Ser)
n.3104G>T
c.259G>T (p.Ala87Ser)
c.9763G>T (p.Ala3255Ser)
c.9697G>T (p.Ala3233Ser)
c.9760G>T (p.Ala3254Ser)
c.9757G>T (p.Ala3253Ser)
c.9703G>T (p.Ala3235Ser)
c.9673G>T (p.Ala3225Ser)
c.9628G>T (p.Ala3210Ser)
c.9223G>T (p.Ala3075Ser)
c.8581G>T (p.Ala2861Ser)
c.6091G>T (p.Ala2031Ser)
10g.71812826C>ACA377137048CDH23c.9569C>A (p.Ala3190Asp)
c.3502C>A (n.3502C>A)
c.3166C>A (n.3166C>A)
c.9584C>A (p.Ala3195Asp)
c.2849C>A (p.Ala950Asp)
n.3105C>A
c.260C>A (p.Ala87Asp)
c.9764C>A (p.Ala3255Asp)
c.9698C>A (p.Ala3233Asp)
c.9761C>A (p.Ala3254Asp)
c.9758C>A (p.Ala3253Asp)
c.9704C>A (p.Ala3235Asp)
c.9674C>A (p.Ala3225Asp)
c.9629C>A (p.Ala3210Asp)
c.9224C>A (p.Ala3075Asp)
c.8582C>A (p.Ala2861Asp)
c.6092C>A (p.Ala2031Asp)
10g.71812826C=CA1918892759CDH23c.9569C= (p.Ala3190=)
c.3502C= (n.3502C=)
c.3166C= (n.3166C=)
c.9584C= (p.Ala3195=)
c.2849C= (p.Ala950=)
n.3105C=
c.260C= (p.Ala87=)
c.9764C= (p.Ala3255=)
c.9698C= (p.Ala3233=)
c.9761C= (p.Ala3254=)
c.9758C= (p.Ala3253=)
c.9704C= (p.Ala3235=)
c.9674C= (p.Ala3225=)
c.9629C= (p.Ala3210=)
c.9224C= (p.Ala3075=)
c.8582C= (p.Ala2861=)
c.6092C= (p.Ala2031=)
10g.71812826C>GCA377137047CDH23c.9569C>G (p.Ala3190Gly)
c.3502C>G (n.3502C>G)
c.3166C>G (n.3166C>G)
c.9584C>G (p.Ala3195Gly)
c.2849C>G (p.Ala950Gly)
n.3105C>G
c.260C>G (p.Ala87Gly)
c.9764C>G (p.Ala3255Gly)
c.9698C>G (p.Ala3233Gly)
c.9761C>G (p.Ala3254Gly)
c.9758C>G (p.Ala3253Gly)
c.9704C>G (p.Ala3235Gly)
c.9674C>G (p.Ala3225Gly)
c.9629C>G (p.Ala3210Gly)
c.9224C>G (p.Ala3075Gly)
c.8582C>G (p.Ala2861Gly)
c.6092C>G (p.Ala2031Gly)
 gnomAD v4
10g.71812826C>TCA137643CDH23c.9569C>T (p.Ala3190Val)
c.3502C>T (n.3502C>T)
c.3166C>T (n.3166C>T)
c.9584C>T (p.Ala3195Val)
c.2849C>T (p.Ala950Val)
n.3105C>T
c.260C>T (p.Ala87Val)
c.9764C>T (p.Ala3255Val)
c.9698C>T (p.Ala3233Val)
c.9761C>T (p.Ala3254Val)
c.9758C>T (p.Ala3253Val)
c.9704C>T (p.Ala3235Val)
c.9674C>T (p.Ala3225Val)
c.9629C>T (p.Ala3210Val)
c.9224C>T (p.Ala3075Val)
c.8582C>T (p.Ala2861Val)
c.6092C>T (p.Ala2031Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71812827T>ACA470282863CDH23c.9570T>A (p.Ala3190=)
c.3503T>A (n.3503T>A)
c.3167T>A (n.3167T>A)
c.9585T>A (p.Ala3195=)
c.2850T>A (p.Ala950=)
n.3106T>A
c.261T>A (p.Ala87=)
c.9765T>A (p.Ala3255=)
c.9699T>A (p.Ala3233=)
c.9762T>A (p.Ala3254=)
c.9759T>A (p.Ala3253=)
c.9705T>A (p.Ala3235=)
c.9675T>A (p.Ala3225=)
c.9630T>A (p.Ala3210=)
c.9225T>A (p.Ala3075=)
c.8583T>A (p.Ala2861=)
c.6093T>A (p.Ala2031=)
10g.71812827T>CCA470282864CDH23c.9570T>C (p.Ala3190=)
c.3503T>C (n.3503T>C)
c.3167T>C (n.3167T>C)
c.9585T>C (p.Ala3195=)
c.2850T>C (p.Ala950=)
n.3106T>C
c.261T>C (p.Ala87=)
c.9765T>C (p.Ala3255=)
c.9699T>C (p.Ala3233=)
c.9762T>C (p.Ala3254=)
c.9759T>C (p.Ala3253=)
c.9705T>C (p.Ala3235=)
c.9675T>C (p.Ala3225=)
c.9630T>C (p.Ala3210=)
c.9225T>C (p.Ala3075=)
c.8583T>C (p.Ala2861=)
c.6093T>C (p.Ala2031=)
10g.71812827T>GCA470282865CDH23c.9570T>G (p.Ala3190=)
c.3503T>G (n.3503T>G)
c.3167T>G (n.3167T>G)
c.9585T>G (p.Ala3195=)
c.2850T>G (p.Ala950=)
n.3106T>G
c.261T>G (p.Ala87=)
c.9765T>G (p.Ala3255=)
c.9699T>G (p.Ala3233=)
c.9762T>G (p.Ala3254=)
c.9759T>G (p.Ala3253=)
c.9705T>G (p.Ala3235=)
c.9675T>G (p.Ala3225=)
c.9630T>G (p.Ala3210=)
c.9225T>G (p.Ala3075=)
c.8583T>G (p.Ala2861=)
c.6093T>G (p.Ala2031=)
10g.71812828G>ACA377137049CDH23c.9571G>A (p.Ala3191Thr)
c.3504G>A (n.3504G>A)
c.3168G>A (n.3168G>A)
c.9586G>A (p.Ala3196Thr)
c.2851G>A (p.Ala951Thr)
n.3107G>A
c.262G>A (p.Ala88Thr)
c.9766G>A (p.Ala3256Thr)
c.9700G>A (p.Ala3234Thr)
c.9763G>A (p.Ala3255Thr)
c.9760G>A (p.Ala3254Thr)
c.9706G>A (p.Ala3236Thr)
c.9676G>A (p.Ala3226Thr)
c.9631G>A (p.Ala3211Thr)
c.9226G>A (p.Ala3076Thr)
c.8584G>A (p.Ala2862Thr)
c.6094G>A (p.Ala2032Thr)
10g.71812828G>CCA377137050CDH23c.9571G>C (p.Ala3191Pro)
c.3504G>C (n.3504G>C)
c.3168G>C (n.3168G>C)
c.9586G>C (p.Ala3196Pro)
c.2851G>C (p.Ala951Pro)
n.3107G>C
c.262G>C (p.Ala88Pro)
c.9766G>C (p.Ala3256Pro)
c.9700G>C (p.Ala3234Pro)
c.9763G>C (p.Ala3255Pro)
c.9760G>C (p.Ala3254Pro)
c.9706G>C (p.Ala3236Pro)
c.9676G>C (p.Ala3226Pro)
c.9631G>C (p.Ala3211Pro)
c.9226G>C (p.Ala3076Pro)
c.8584G>C (p.Ala2862Pro)
c.6094G>C (p.Ala2032Pro)
10g.71812828G>TCA377137051CDH23c.9571G>T (p.Ala3191Ser)
c.3504G>T (n.3504G>T)
c.3168G>T (n.3168G>T)
c.9586G>T (p.Ala3196Ser)
c.2851G>T (p.Ala951Ser)
n.3107G>T
c.262G>T (p.Ala88Ser)
c.9766G>T (p.Ala3256Ser)
c.9700G>T (p.Ala3234Ser)
c.9763G>T (p.Ala3255Ser)
c.9760G>T (p.Ala3254Ser)
c.9706G>T (p.Ala3236Ser)
c.9676G>T (p.Ala3226Ser)
c.9631G>T (p.Ala3211Ser)
c.9226G>T (p.Ala3076Ser)
c.8584G>T (p.Ala2862Ser)
c.6094G>T (p.Ala2032Ser)
10g.71812829C>ACA5547129CDH23c.9572C>A (p.Ala3191Asp)
c.3505C>A (n.3505C>A)
c.3169C>A (n.3169C>A)
c.9587C>A (p.Ala3196Asp)
c.2852C>A (p.Ala951Asp)
n.3108C>A
c.263C>A (p.Ala88Asp)
c.9767C>A (p.Ala3256Asp)
c.9701C>A (p.Ala3234Asp)
c.9764C>A (p.Ala3255Asp)
c.9761C>A (p.Ala3254Asp)
c.9707C>A (p.Ala3236Asp)
c.9677C>A (p.Ala3226Asp)
c.9632C>A (p.Ala3211Asp)
c.9227C>A (p.Ala3076Asp)
c.8585C>A (p.Ala2862Asp)
c.6095C>A (p.Ala2032Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71812829C=CA1918892764CDH23c.9572C= (p.Ala3191=)
c.3505C= (n.3505C=)
c.3169C= (n.3169C=)
c.9587C= (p.Ala3196=)
c.2852C= (p.Ala951=)
n.3108C=
c.263C= (p.Ala88=)
c.9767C= (p.Ala3256=)
c.9701C= (p.Ala3234=)
c.9764C= (p.Ala3255=)
c.9761C= (p.Ala3254=)
c.9707C= (p.Ala3236=)
c.9677C= (p.Ala3226=)
c.9632C= (p.Ala3211=)
c.9227C= (p.Ala3076=)
c.8585C= (p.Ala2862=)
c.6095C= (p.Ala2032=)
10g.71812829C>GCA377137052CDH23c.9572C>G (p.Ala3191Gly)
c.3505C>G (n.3505C>G)
c.3169C>G (n.3169C>G)
c.9587C>G (p.Ala3196Gly)
c.2852C>G (p.Ala951Gly)
n.3108C>G
c.263C>G (p.Ala88Gly)
c.9767C>G (p.Ala3256Gly)
c.9701C>G (p.Ala3234Gly)
c.9764C>G (p.Ala3255Gly)
c.9761C>G (p.Ala3254Gly)
c.9707C>G (p.Ala3236Gly)
c.9677C>G (p.Ala3226Gly)
c.9632C>G (p.Ala3211Gly)
c.9227C>G (p.Ala3076Gly)
c.8585C>G (p.Ala2862Gly)
c.6095C>G (p.Ala2032Gly)
10g.71812829C>TCA377137053CDH23c.9572C>T (p.Ala3191Val)
c.3505C>T (n.3505C>T)
c.3169C>T (n.3169C>T)
c.9587C>T (p.Ala3196Val)
c.2852C>T (p.Ala951Val)
n.3108C>T
c.263C>T (p.Ala88Val)
c.9767C>T (p.Ala3256Val)
c.9701C>T (p.Ala3234Val)
c.9764C>T (p.Ala3255Val)
c.9761C>T (p.Ala3254Val)
c.9707C>T (p.Ala3236Val)
c.9677C>T (p.Ala3226Val)
c.9632C>T (p.Ala3211Val)
c.9227C>T (p.Ala3076Val)
c.8585C>T (p.Ala2862Val)
c.6095C>T (p.Ala2032Val)
10g.71812830C>ACA470282870CDH23c.9573C>A (p.Ala3191=)
c.3506C>A (n.3506C>A)
c.3170C>A (n.3170C>A)
c.9588C>A (p.Ala3196=)
c.2853C>A (p.Ala951=)
n.3109C>A
c.264C>A (p.Ala88=)
c.9768C>A (p.Ala3256=)
c.9702C>A (p.Ala3234=)
c.9765C>A (p.Ala3255=)
c.9762C>A (p.Ala3254=)
c.9708C>A (p.Ala3236=)
c.9678C>A (p.Ala3226=)
c.9633C>A (p.Ala3211=)
c.9228C>A (p.Ala3076=)
c.8586C>A (p.Ala2862=)
c.6096C>A (p.Ala2032=)
10g.71812830C>GCA470282871CDH23c.9573C>G (p.Ala3191=)
c.3506C>G (n.3506C>G)
c.3170C>G (n.3170C>G)
c.9588C>G (p.Ala3196=)
c.2853C>G (p.Ala951=)
n.3109C>G
c.264C>G (p.Ala88=)
c.9768C>G (p.Ala3256=)
c.9702C>G (p.Ala3234=)
c.9765C>G (p.Ala3255=)
c.9762C>G (p.Ala3254=)
c.9708C>G (p.Ala3236=)
c.9678C>G (p.Ala3226=)
c.9633C>G (p.Ala3211=)
c.9228C>G (p.Ala3076=)
c.8586C>G (p.Ala2862=)
c.6096C>G (p.Ala2032=)
10g.71812830C>TCA470282872CDH23c.9573C>T (p.Ala3191=)
c.3506C>T (n.3506C>T)
c.3170C>T (n.3170C>T)
c.9588C>T (p.Ala3196=)
c.2853C>T (p.Ala951=)
n.3109C>T
c.264C>T (p.Ala88=)
c.9768C>T (p.Ala3256=)
c.9702C>T (p.Ala3234=)
c.9765C>T (p.Ala3255=)
c.9762C>T (p.Ala3254=)
c.9708C>T (p.Ala3236=)
c.9678C>T (p.Ala3226=)
c.9633C>T (p.Ala3211=)
c.9228C>T (p.Ala3076=)
c.8586C>T (p.Ala2862=)
c.6096C>T (p.Ala2032=)
10g.71812831A>CCA377137054CDH23c.9574A>C (p.Ile3192Leu)
c.3507A>C (n.3507A>C)
c.3171A>C (n.3171A>C)
c.9589A>C (p.Ile3197Leu)
c.2854A>C (p.Ile952Leu)
n.3110A>C
c.265A>C (p.Ile89Leu)
c.9769A>C (p.Ile3257Leu)
c.9703A>C (p.Ile3235Leu)
c.9766A>C (p.Ile3256Leu)
c.9763A>C (p.Ile3255Leu)
c.9709A>C (p.Ile3237Leu)
c.9679A>C (p.Ile3227Leu)
c.9634A>C (p.Ile3212Leu)
c.9229A>C (p.Ile3077Leu)
c.8587A>C (p.Ile2863Leu)
c.6097A>C (p.Ile2033Leu)
10g.71812831A>GCA377137056CDH23c.9574A>G (p.Ile3192Val)
c.3507A>G (n.3507A>G)
c.3171A>G (n.3171A>G)
c.9589A>G (p.Ile3197Val)
c.2854A>G (p.Ile952Val)
n.3110A>G
c.265A>G (p.Ile89Val)
c.9769A>G (p.Ile3257Val)
c.9703A>G (p.Ile3235Val)
c.9766A>G (p.Ile3256Val)
c.9763A>G (p.Ile3255Val)
c.9709A>G (p.Ile3237Val)
c.9679A>G (p.Ile3227Val)
c.9634A>G (p.Ile3212Val)
c.9229A>G (p.Ile3077Val)
c.8587A>G (p.Ile2863Val)
c.6097A>G (p.Ile2033Val)
10g.71812831A>TCA377137055CDH23c.9574A>T (p.Ile3192Phe)
c.3507A>T (n.3507A>T)
c.3171A>T (n.3171A>T)
c.9589A>T (p.Ile3197Phe)
c.2854A>T (p.Ile952Phe)
n.3110A>T
c.265A>T (p.Ile89Phe)
c.9769A>T (p.Ile3257Phe)
c.9703A>T (p.Ile3235Phe)
c.9766A>T (p.Ile3256Phe)
c.9763A>T (p.Ile3255Phe)
c.9709A>T (p.Ile3237Phe)
c.9679A>T (p.Ile3227Phe)
c.9634A>T (p.Ile3212Phe)
c.9229A>T (p.Ile3077Phe)
c.8587A>T (p.Ile2863Phe)
c.6097A>T (p.Ile2033Phe)
10g.71812832T>ACA377137057CDH23c.9575T>A (p.Ile3192Asn)
c.3508T>A (n.3508T>A)
c.3172T>A (n.3172T>A)
c.9590T>A (p.Ile3197Asn)
c.2855T>A (p.Ile952Asn)
n.3111T>A
c.266T>A (p.Ile89Asn)
c.9770T>A (p.Ile3257Asn)
c.9704T>A (p.Ile3235Asn)
c.9767T>A (p.Ile3256Asn)
c.9764T>A (p.Ile3255Asn)
c.9710T>A (p.Ile3237Asn)
c.9680T>A (p.Ile3227Asn)
c.9635T>A (p.Ile3212Asn)
c.9230T>A (p.Ile3077Asn)
c.8588T>A (p.Ile2863Asn)
c.6098T>A (p.Ile2033Asn)
10g.71812832T>CCA377137058CDH23c.9575T>C (p.Ile3192Thr)
c.3508T>C (n.3508T>C)
c.3172T>C (n.3172T>C)
c.9590T>C (p.Ile3197Thr)
c.2855T>C (p.Ile952Thr)
n.3111T>C
c.266T>C (p.Ile89Thr)
c.9770T>C (p.Ile3257Thr)
c.9704T>C (p.Ile3235Thr)
c.9767T>C (p.Ile3256Thr)
c.9764T>C (p.Ile3255Thr)
c.9710T>C (p.Ile3237Thr)
c.9680T>C (p.Ile3227Thr)
c.9635T>C (p.Ile3212Thr)
c.9230T>C (p.Ile3077Thr)
c.8588T>C (p.Ile2863Thr)
c.6098T>C (p.Ile2033Thr)
 gnomAD v4
10g.71812832T>GCA377137059CDH23c.9575T>G (p.Ile3192Ser)
c.3508T>G (n.3508T>G)
c.3172T>G (n.3172T>G)
c.9590T>G (p.Ile3197Ser)
c.2855T>G (p.Ile952Ser)
n.3111T>G
c.266T>G (p.Ile89Ser)
c.9770T>G (p.Ile3257Ser)
c.9704T>G (p.Ile3235Ser)
c.9767T>G (p.Ile3256Ser)
c.9764T>G (p.Ile3255Ser)
c.9710T>G (p.Ile3237Ser)
c.9680T>G (p.Ile3227Ser)
c.9635T>G (p.Ile3212Ser)
c.9230T>G (p.Ile3077Ser)
c.8588T>G (p.Ile2863Ser)
c.6098T>G (p.Ile2033Ser)
10g.71812833C>ACA470282877CDH23c.9576C>A (p.Ile3192=)
c.3509C>A (n.3509C>A)
c.3173C>A (n.3173C>A)
c.9591C>A (p.Ile3197=)
c.2856C>A (p.Ile952=)
n.3112C>A
c.267C>A (p.Ile89=)
c.9771C>A (p.Ile3257=)
c.9705C>A (p.Ile3235=)
c.9768C>A (p.Ile3256=)
c.9765C>A (p.Ile3255=)
c.9711C>A (p.Ile3237=)
c.9681C>A (p.Ile3227=)
c.9636C>A (p.Ile3212=)
c.9231C>A (p.Ile3077=)
c.8589C>A (p.Ile2863=)
c.6099C>A (p.Ile2033=)
 ClinVar
10g.71812833C=CA1918892766CDH23c.9576C= (p.Ile3192=)
c.3509C= (n.3509C=)
c.3173C= (n.3173C=)
c.9591C= (p.Ile3197=)
c.2856C= (p.Ile952=)
n.3112C=
c.267C= (p.Ile89=)
c.9771C= (p.Ile3257=)
c.9705C= (p.Ile3235=)
c.9768C= (p.Ile3256=)
c.9765C= (p.Ile3255=)
c.9711C= (p.Ile3237=)
c.9681C= (p.Ile3227=)
c.9636C= (p.Ile3212=)
c.9231C= (p.Ile3077=)
c.8589C= (p.Ile2863=)
c.6099C= (p.Ile2033=)
10g.71812833C>GCA377137060CDH23c.9576C>G (p.Ile3192Met)
c.3509C>G (n.3509C>G)
c.3173C>G (n.3173C>G)
c.9591C>G (p.Ile3197Met)
c.2856C>G (p.Ile952Met)
n.3112C>G
c.267C>G (p.Ile89Met)
c.9771C>G (p.Ile3257Met)
c.9705C>G (p.Ile3235Met)
c.9768C>G (p.Ile3256Met)
c.9765C>G (p.Ile3255Met)
c.9711C>G (p.Ile3237Met)
c.9681C>G (p.Ile3227Met)
c.9636C>G (p.Ile3212Met)
c.9231C>G (p.Ile3077Met)
c.8589C>G (p.Ile2863Met)
c.6099C>G (p.Ile2033Met)
10g.71812833C>TCA470282878CDH23c.9576C>T (p.Ile3192=)
c.3509C>T (n.3509C>T)
c.3173C>T (n.3173C>T)
c.9591C>T (p.Ile3197=)
c.2856C>T (p.Ile952=)
n.3112C>T
c.267C>T (p.Ile89=)
c.9771C>T (p.Ile3257=)
c.9705C>T (p.Ile3235=)
c.9768C>T (p.Ile3256=)
c.9765C>T (p.Ile3255=)
c.9711C>T (p.Ile3237=)
c.9681C>T (p.Ile3227=)
c.9636C>T (p.Ile3212=)
c.9231C>T (p.Ile3077=)
c.8589C>T (p.Ile2863=)
c.6099C>T (p.Ile2033=)
 dbSNP gnomAD v4
10g.71812834C>ACA377137061CDH23c.9577C>A (p.Gln3193Lys)
c.3510C>A (n.3510C>A)
c.3174C>A (n.3174C>A)
c.9592C>A (p.Gln3198Lys)
c.2857C>A (p.Gln953Lys)
n.3113C>A
c.268C>A (p.Gln90Lys)
c.9772C>A (p.Gln3258Lys)
c.9706C>A (p.Gln3236Lys)
c.9769C>A (p.Gln3257Lys)
c.9766C>A (p.Gln3256Lys)
c.9712C>A (p.Gln3238Lys)
c.9682C>A (p.Gln3228Lys)
c.9637C>A (p.Gln3213Lys)
c.9232C>A (p.Gln3078Lys)
c.8590C>A (p.Gln2864Lys)
c.6100C>A (p.Gln2034Lys)
10g.71812834C>GCA377137062CDH23c.9577C>G (p.Gln3193Glu)
c.3510C>G (n.3510C>G)
c.3174C>G (n.3174C>G)
c.9592C>G (p.Gln3198Glu)
c.2857C>G (p.Gln953Glu)
n.3113C>G
c.268C>G (p.Gln90Glu)
c.9772C>G (p.Gln3258Glu)
c.9706C>G (p.Gln3236Glu)
c.9769C>G (p.Gln3257Glu)
c.9766C>G (p.Gln3256Glu)
c.9712C>G (p.Gln3238Glu)
c.9682C>G (p.Gln3228Glu)
c.9637C>G (p.Gln3213Glu)
c.9232C>G (p.Gln3078Glu)
c.8590C>G (p.Gln2864Glu)
c.6100C>G (p.Gln2034Glu)
10g.71812834C>TCA377137063CDH23c.9577C>T (p.Gln3193Ter)
c.3510C>T (n.3510C>T)
c.3174C>T (n.3174C>T)
c.9592C>T (p.Gln3198Ter)
c.2857C>T (p.Gln953Ter)
n.3113C>T
c.268C>T (p.Gln90Ter)
c.9772C>T (p.Gln3258Ter)
c.9706C>T (p.Gln3236Ter)
c.9769C>T (p.Gln3257Ter)
c.9766C>T (p.Gln3256Ter)
c.9712C>T (p.Gln3238Ter)
c.9682C>T (p.Gln3228Ter)
c.9637C>T (p.Gln3213Ter)
c.9232C>T (p.Gln3078Ter)
c.8590C>T (p.Gln2864Ter)
c.6100C>T (p.Gln2034Ter)
 gnomAD v4
10g.71812835A>CCA377137064CDH23c.9578A>C (p.Gln3193Pro)
c.3511A>C (n.3511A>C)
c.3175A>C (n.3175A>C)
c.9593A>C (p.Gln3198Pro)
c.2858A>C (p.Gln953Pro)
n.3114A>C
c.269A>C (p.Gln90Pro)
c.9773A>C (p.Gln3258Pro)
c.9707A>C (p.Gln3236Pro)
c.9770A>C (p.Gln3257Pro)
c.9767A>C (p.Gln3256Pro)
c.9713A>C (p.Gln3238Pro)
c.9683A>C (p.Gln3228Pro)
c.9638A>C (p.Gln3213Pro)
c.9233A>C (p.Gln3078Pro)
c.8591A>C (p.Gln2864Pro)
c.6101A>C (p.Gln2034Pro)
10g.71812835A>GCA377137065CDH23c.9578A>G (p.Gln3193Arg)
c.3511A>G (n.3511A>G)
c.3175A>G (n.3175A>G)
c.9593A>G (p.Gln3198Arg)
c.2858A>G (p.Gln953Arg)
n.3114A>G
c.269A>G (p.Gln90Arg)
c.9773A>G (p.Gln3258Arg)
c.9707A>G (p.Gln3236Arg)
c.9770A>G (p.Gln3257Arg)
c.9767A>G (p.Gln3256Arg)
c.9713A>G (p.Gln3238Arg)
c.9683A>G (p.Gln3228Arg)
c.9638A>G (p.Gln3213Arg)
c.9233A>G (p.Gln3078Arg)
c.8591A>G (p.Gln2864Arg)
c.6101A>G (p.Gln2034Arg)
10g.71812835A>TCA377137066CDH23c.9578A>T (p.Gln3193Leu)
c.3511A>T (n.3511A>T)
c.3175A>T (n.3175A>T)
c.9593A>T (p.Gln3198Leu)
c.2858A>T (p.Gln953Leu)
n.3114A>T
c.269A>T (p.Gln90Leu)
c.9773A>T (p.Gln3258Leu)
c.9707A>T (p.Gln3236Leu)
c.9770A>T (p.Gln3257Leu)
c.9767A>T (p.Gln3256Leu)
c.9713A>T (p.Gln3238Leu)
c.9683A>T (p.Gln3228Leu)
c.9638A>T (p.Gln3213Leu)
c.9233A>T (p.Gln3078Leu)
c.8591A>T (p.Gln2864Leu)
c.6101A>T (p.Gln2034Leu)
10g.71812836G>ACA470282882CDH23c.9579G>A (p.Gln3193=)
c.3512G>A (n.3512G>A)
c.3176G>A (n.3176G>A)
c.9594G>A (p.Gln3198=)
c.2859G>A (p.Gln953=)
n.3115G>A
c.270G>A (p.Gln90=)
c.9774G>A (p.Gln3258=)
c.9708G>A (p.Gln3236=)
c.9771G>A (p.Gln3257=)
c.9768G>A (p.Gln3256=)
c.9714G>A (p.Gln3238=)
c.9684G>A (p.Gln3228=)
c.9639G>A (p.Gln3213=)
c.9234G>A (p.Gln3078=)
c.8592G>A (p.Gln2864=)
c.6102G>A (p.Gln2034=)
10g.71812836G>CCA377137067CDH23c.9579G>C (p.Gln3193His)
c.3512G>C (n.3512G>C)
c.3176G>C (n.3176G>C)
c.9594G>C (p.Gln3198His)
c.2859G>C (p.Gln953His)
n.3115G>C
c.270G>C (p.Gln90His)
c.9774G>C (p.Gln3258His)
c.9708G>C (p.Gln3236His)
c.9771G>C (p.Gln3257His)
c.9768G>C (p.Gln3256His)
c.9714G>C (p.Gln3238His)
c.9684G>C (p.Gln3228His)
c.9639G>C (p.Gln3213His)
c.9234G>C (p.Gln3078His)
c.8592G>C (p.Gln2864His)
c.6102G>C (p.Gln2034His)
10g.71812836G>TCA377137068CDH23c.9579G>T (p.Gln3193His)
c.3512G>T (n.3512G>T)
c.3176G>T (n.3176G>T)
c.9594G>T (p.Gln3198His)
c.2859G>T (p.Gln953His)
n.3115G>T
c.270G>T (p.Gln90His)
c.9774G>T (p.Gln3258His)
c.9708G>T (p.Gln3236His)
c.9771G>T (p.Gln3257His)
c.9768G>T (p.Gln3256His)
c.9714G>T (p.Gln3238His)
c.9684G>T (p.Gln3228His)
c.9639G>T (p.Gln3213His)
c.9234G>T (p.Gln3078His)
c.8592G>T (p.Gln2864His)
c.6102G>T (p.Gln2034His)
10g.71812837G>ACA377137069CDH23c.9580G>A (p.Glu3194Lys)
c.3513G>A (n.3513G>A)
c.3177G>A (n.3177G>A)
c.9595G>A (p.Glu3199Lys)
c.2860G>A (p.Glu954Lys)
n.3116G>A
c.271G>A (p.Glu91Lys)
c.9775G>A (p.Glu3259Lys)
c.9709G>A (p.Glu3237Lys)
c.9772G>A (p.Glu3258Lys)
c.9769G>A (p.Glu3257Lys)
c.9715G>A (p.Glu3239Lys)
c.9685G>A (p.Glu3229Lys)
c.9640G>A (p.Glu3214Lys)
c.9235G>A (p.Glu3079Lys)
c.8593G>A (p.Glu2865Lys)
c.6103G>A (p.Glu2035Lys)
10g.71812837G>CCA377137071CDH23c.9580G>C (p.Glu3194Gln)
c.3513G>C (n.3513G>C)
c.3177G>C (n.3177G>C)
c.9595G>C (p.Glu3199Gln)
c.2860G>C (p.Glu954Gln)
n.3116G>C
c.271G>C (p.Glu91Gln)
c.9775G>C (p.Glu3259Gln)
c.9709G>C (p.Glu3237Gln)
c.9772G>C (p.Glu3258Gln)
c.9769G>C (p.Glu3257Gln)
c.9715G>C (p.Glu3239Gln)
c.9685G>C (p.Glu3229Gln)
c.9640G>C (p.Glu3214Gln)
c.9235G>C (p.Glu3079Gln)
c.8593G>C (p.Glu2865Gln)
c.6103G>C (p.Glu2035Gln)
10g.71812837G>TCA377137070CDH23c.9580G>T (p.Glu3194Ter)
c.3513G>T (n.3513G>T)
c.3177G>T (n.3177G>T)
c.9595G>T (p.Glu3199Ter)
c.2860G>T (p.Glu954Ter)
n.3116G>T
c.271G>T (p.Glu91Ter)
c.9775G>T (p.Glu3259Ter)
c.9709G>T (p.Glu3237Ter)
c.9772G>T (p.Glu3258Ter)
c.9769G>T (p.Glu3257Ter)
c.9715G>T (p.Glu3239Ter)
c.9685G>T (p.Glu3229Ter)
c.9640G>T (p.Glu3214Ter)
c.9235G>T (p.Glu3079Ter)
c.8593G>T (p.Glu2865Ter)
c.6103G>T (p.Glu2035Ter)
10g.71812838A=CA1918892770CDH23c.9581A= (p.Glu3194=)
c.3514A= (n.3514A=)
c.3178A= (n.3178A=)
c.9596A= (p.Glu3199=)
c.2861A= (p.Glu954=)
n.3117A=
c.272A= (p.Glu91=)
c.9776A= (p.Glu3259=)
c.9710A= (p.Glu3237=)
c.9773A= (p.Glu3258=)
c.9770A= (p.Glu3257=)
c.9716A= (p.Glu3239=)
c.9686A= (p.Glu3229=)
c.9641A= (p.Glu3214=)
c.9236A= (p.Glu3079=)
c.8594A= (p.Glu2865=)
c.6104A= (p.Glu2035=)
10g.71812838A>CCA377137072CDH23c.9581A>C (p.Glu3194Ala)
c.3514A>C (n.3514A>C)
c.3178A>C (n.3178A>C)
c.9596A>C (p.Glu3199Ala)
c.2861A>C (p.Glu954Ala)
n.3117A>C
c.272A>C (p.Glu91Ala)
c.9776A>C (p.Glu3259Ala)
c.9710A>C (p.Glu3237Ala)
c.9773A>C (p.Glu3258Ala)
c.9770A>C (p.Glu3257Ala)
c.9716A>C (p.Glu3239Ala)
c.9686A>C (p.Glu3229Ala)
c.9641A>C (p.Glu3214Ala)
c.9236A>C (p.Glu3079Ala)
c.8594A>C (p.Glu2865Ala)
c.6104A>C (p.Glu2035Ala)
10g.71812838A>GCA377137073CDH23c.9581A>G (p.Glu3194Gly)
c.3514A>G (n.3514A>G)
c.3178A>G (n.3178A>G)
c.9596A>G (p.Glu3199Gly)
c.2861A>G (p.Glu954Gly)
n.3117A>G
c.272A>G (p.Glu91Gly)
c.9776A>G (p.Glu3259Gly)
c.9710A>G (p.Glu3237Gly)
c.9773A>G (p.Glu3258Gly)
c.9770A>G (p.Glu3257Gly)
c.9716A>G (p.Glu3239Gly)
c.9686A>G (p.Glu3229Gly)
c.9641A>G (p.Glu3214Gly)
c.9236A>G (p.Glu3079Gly)
c.8594A>G (p.Glu2865Gly)
c.6104A>G (p.Glu2035Gly)
10g.71812838A>TCA5547130CDH23c.9581A>T (p.Glu3194Val)
c.3514A>T (n.3514A>T)
c.3178A>T (n.3178A>T)
c.9596A>T (p.Glu3199Val)
c.2861A>T (p.Glu954Val)
n.3117A>T
c.272A>T (p.Glu91Val)
c.9776A>T (p.Glu3259Val)
c.9710A>T (p.Glu3237Val)
c.9773A>T (p.Glu3258Val)
c.9770A>T (p.Glu3257Val)
c.9716A>T (p.Glu3239Val)
c.9686A>T (p.Glu3229Val)
c.9641A>T (p.Glu3214Val)
c.9236A>T (p.Glu3079Val)
c.8594A>T (p.Glu2865Val)
c.6104A>T (p.Glu2035Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71812839G>ACA470282891CDH23c.9582G>A (p.Glu3194=)
c.3515G>A (n.3515G>A)
c.3179G>A (n.3179G>A)
c.9597G>A (p.Glu3199=)
c.2862G>A (p.Glu954=)
n.3118G>A
c.273G>A (p.Glu91=)
c.9777G>A (p.Glu3259=)
c.9711G>A (p.Glu3237=)
c.9774G>A (p.Glu3258=)
c.9771G>A (p.Glu3257=)
c.9717G>A (p.Glu3239=)
c.9687G>A (p.Glu3229=)
c.9642G>A (p.Glu3214=)
c.9237G>A (p.Glu3079=)
c.8595G>A (p.Glu2865=)
c.6105G>A (p.Glu2035=)
10g.71812839G>CCA377137074CDH23c.9582G>C (p.Glu3194Asp)
c.3515G>C (n.3515G>C)
c.3179G>C (n.3179G>C)
c.9597G>C (p.Glu3199Asp)
c.2862G>C (p.Glu954Asp)
n.3118G>C
c.273G>C (p.Glu91Asp)
c.9777G>C (p.Glu3259Asp)
c.9711G>C (p.Glu3237Asp)
c.9774G>C (p.Glu3258Asp)
c.9771G>C (p.Glu3257Asp)
c.9717G>C (p.Glu3239Asp)
c.9687G>C (p.Glu3229Asp)
c.9642G>C (p.Glu3214Asp)
c.9237G>C (p.Glu3079Asp)
c.8595G>C (p.Glu2865Asp)
c.6105G>C (p.Glu2035Asp)
10g.71812839G>TCA377137075CDH23c.9582G>T (p.Glu3194Asp)
c.3515G>T (n.3515G>T)
c.3179G>T (n.3179G>T)
c.9597G>T (p.Glu3199Asp)
c.2862G>T (p.Glu954Asp)
n.3118G>T
c.273G>T (p.Glu91Asp)
c.9777G>T (p.Glu3259Asp)
c.9711G>T (p.Glu3237Asp)
c.9774G>T (p.Glu3258Asp)
c.9771G>T (p.Glu3257Asp)
c.9717G>T (p.Glu3239Asp)
c.9687G>T (p.Glu3229Asp)
c.9642G>T (p.Glu3214Asp)
c.9237G>T (p.Glu3079Asp)
c.8595G>T (p.Glu2865Asp)
c.6105G>T (p.Glu2035Asp)
 COSMIC
10g.71812840T>ACA377137076CDH23c.9583T>A (p.Tyr3195Asn)
c.3516T>A (n.3516T>A)
c.3180T>A (n.3180T>A)
c.9598T>A (p.Tyr3200Asn)
c.2863T>A (p.Tyr955Asn)
n.3119T>A
c.274T>A (p.Tyr92Asn)
c.9778T>A (p.Tyr3260Asn)
c.9712T>A (p.Tyr3238Asn)
c.9775T>A (p.Tyr3259Asn)
c.9772T>A (p.Tyr3258Asn)
c.9718T>A (p.Tyr3240Asn)
c.9688T>A (p.Tyr3230Asn)
c.9643T>A (p.Tyr3215Asn)
c.9238T>A (p.Tyr3080Asn)
c.8596T>A (p.Tyr2866Asn)
c.6106T>A (p.Tyr2036Asn)
10g.71812840T>CCA377137077CDH23c.9583T>C (p.Tyr3195His)
c.3516T>C (n.3516T>C)
c.3180T>C (n.3180T>C)
c.9598T>C (p.Tyr3200His)
c.2863T>C (p.Tyr955His)
n.3119T>C
c.274T>C (p.Tyr92His)
c.9778T>C (p.Tyr3260His)
c.9712T>C (p.Tyr3238His)
c.9775T>C (p.Tyr3259His)
c.9772T>C (p.Tyr3258His)
c.9718T>C (p.Tyr3240His)
c.9688T>C (p.Tyr3230His)
c.9643T>C (p.Tyr3215His)
c.9238T>C (p.Tyr3080His)
c.8596T>C (p.Tyr2866His)
c.6106T>C (p.Tyr2036His)
10g.71812840T>GCA377137078CDH23c.9583T>G (p.Tyr3195Asp)
c.3516T>G (n.3516T>G)
c.3180T>G (n.3180T>G)
c.9598T>G (p.Tyr3200Asp)
c.2863T>G (p.Tyr955Asp)
n.3119T>G
c.274T>G (p.Tyr92Asp)
c.9778T>G (p.Tyr3260Asp)
c.9712T>G (p.Tyr3238Asp)
c.9775T>G (p.Tyr3259Asp)
c.9772T>G (p.Tyr3258Asp)
c.9718T>G (p.Tyr3240Asp)
c.9688T>G (p.Tyr3230Asp)
c.9643T>G (p.Tyr3215Asp)
c.9238T>G (p.Tyr3080Asp)
c.8596T>G (p.Tyr2866Asp)
c.6106T>G (p.Tyr2036Asp)
 gnomAD v4
10g.71812840_71812841insGCCAGCATTGCCAGCGGGCACA2788483707CDH23c.9583_9584insGCCAGCATTGCCAGCGGGCA (p.Tyr3195CysfsTer28)
c.3516_3517insGCCAGCATTGCCAGCGGGCA (n.3516_3517insGCCAGCATTGCCAGCGGGCA)
c.3180_3181insGCCAGCATTGCCAGCGGGCA (n.3180_3181insGCCAGCATTGCCAGCGGGCA)
c.9598_9599insGCCAGCATTGCCAGCGGGCA (p.Tyr3200CysfsTer28)
c.2863_2864insGCCAGCATTGCCAGCGGGCA (p.Tyr955CysfsTer28)
n.3119_3120insGCCAGCATTGCCAGCGGGCA
c.2863_2864insGCCAGCATTGCCAGCGGGCA (p.Tyr955CysfsTer25)
c.274_275insGCCAGCATTGCCAGCGGGCA (p.Tyr92CysfsTer28)
c.274_275insGCCAGCATTGCCAGCGGGCA (p.Tyr92CysfsTer25)
c.9778_9779insGCCAGCATTGCCAGCGGGCA (p.Tyr3260CysfsTer28)
c.9712_9713insGCCAGCATTGCCAGCGGGCA (p.Tyr3238CysfsTer28)
c.9775_9776insGCCAGCATTGCCAGCGGGCA (p.Tyr3259CysfsTer28)
c.9772_9773insGCCAGCATTGCCAGCGGGCA (p.Tyr3258CysfsTer28)
c.9718_9719insGCCAGCATTGCCAGCGGGCA (p.Tyr3240CysfsTer28)
c.9688_9689insGCCAGCATTGCCAGCGGGCA (p.Tyr3230CysfsTer28)
c.9778_9779insGCCAGCATTGCCAGCGGGCA (p.Tyr3260CysfsTer25)
c.9643_9644insGCCAGCATTGCCAGCGGGCA (p.Tyr3215CysfsTer28)
c.9238_9239insGCCAGCATTGCCAGCGGGCA (p.Tyr3080CysfsTer28)
c.8596_8597insGCCAGCATTGCCAGCGGGCA (p.Tyr2866CysfsTer28)
c.6106_6107insGCCAGCATTGCCAGCGGGCA (p.Tyr2036CysfsTer28)
10g.71812841A=CA1918892773CDH23c.9584A= (p.Tyr3195=)
c.3517A= (n.3517A=)
c.3181A= (n.3181A=)
c.9599A= (p.Tyr3200=)
c.2864A= (p.Tyr955=)
n.3120A=
c.275A= (p.Tyr92=)
c.9779A= (p.Tyr3260=)
c.9713A= (p.Tyr3238=)
c.9776A= (p.Tyr3259=)
c.9773A= (p.Tyr3258=)
c.9719A= (p.Tyr3240=)
c.9689A= (p.Tyr3230=)
c.9644A= (p.Tyr3215=)
c.9239A= (p.Tyr3080=)
c.8597A= (p.Tyr2866=)
c.6107A= (p.Tyr2036=)
10g.71812841A>CCA377137079CDH23c.9584A>C (p.Tyr3195Ser)
c.3517A>C (n.3517A>C)
c.3181A>C (n.3181A>C)
c.9599A>C (p.Tyr3200Ser)
c.2864A>C (p.Tyr955Ser)
n.3120A>C
c.275A>C (p.Tyr92Ser)
c.9779A>C (p.Tyr3260Ser)
c.9713A>C (p.Tyr3238Ser)
c.9776A>C (p.Tyr3259Ser)
c.9773A>C (p.Tyr3258Ser)
c.9719A>C (p.Tyr3240Ser)
c.9689A>C (p.Tyr3230Ser)
c.9644A>C (p.Tyr3215Ser)
c.9239A>C (p.Tyr3080Ser)
c.8597A>C (p.Tyr2866Ser)
c.6107A>C (p.Tyr2036Ser)
10g.71812841A>GCA377137080CDH23c.9584A>G (p.Tyr3195Cys)
c.3517A>G (n.3517A>G)
c.3181A>G (n.3181A>G)
c.9599A>G (p.Tyr3200Cys)
c.2864A>G (p.Tyr955Cys)
n.3120A>G
c.275A>G (p.Tyr92Cys)
c.9779A>G (p.Tyr3260Cys)
c.9713A>G (p.Tyr3238Cys)
c.9776A>G (p.Tyr3259Cys)
c.9773A>G (p.Tyr3258Cys)
c.9719A>G (p.Tyr3240Cys)
c.9689A>G (p.Tyr3230Cys)
c.9644A>G (p.Tyr3215Cys)
c.9239A>G (p.Tyr3080Cys)
c.8597A>G (p.Tyr2866Cys)
c.6107A>G (p.Tyr2036Cys)
 dbSNP gnomAD v2 gnomAD v4
10g.71812841A>TCA377137081CDH23c.9584A>T (p.Tyr3195Phe)
c.3517A>T (n.3517A>T)
c.3181A>T (n.3181A>T)
c.9599A>T (p.Tyr3200Phe)
c.2864A>T (p.Tyr955Phe)
n.3120A>T
c.275A>T (p.Tyr92Phe)
c.9779A>T (p.Tyr3260Phe)
c.9713A>T (p.Tyr3238Phe)
c.9776A>T (p.Tyr3259Phe)
c.9773A>T (p.Tyr3258Phe)
c.9719A>T (p.Tyr3240Phe)
c.9689A>T (p.Tyr3230Phe)
c.9644A>T (p.Tyr3215Phe)
c.9239A>T (p.Tyr3080Phe)
c.8597A>T (p.Tyr2866Phe)
c.6107A>T (p.Tyr2036Phe)
10g.71812842T>ACA377137082CDH23c.9585T>A (p.Tyr3195Ter)
c.3518T>A (n.3518T>A)
c.3182T>A (n.3182T>A)
c.9600T>A (p.Tyr3200Ter)
c.2865T>A (p.Tyr955Ter)
n.3121T>A
c.276T>A (p.Tyr92Ter)
c.9780T>A (p.Tyr3260Ter)
c.9714T>A (p.Tyr3238Ter)
c.9777T>A (p.Tyr3259Ter)
c.9774T>A (p.Tyr3258Ter)
c.9720T>A (p.Tyr3240Ter)
c.9690T>A (p.Tyr3230Ter)
c.9645T>A (p.Tyr3215Ter)
c.9240T>A (p.Tyr3080Ter)
c.8598T>A (p.Tyr2866Ter)
c.6108T>A (p.Tyr2036Ter)
10g.71812842T>CCA470282903CDH23c.9585T>C (p.Tyr3195=)
c.3518T>C (n.3518T>C)
c.3182T>C (n.3182T>C)
c.9600T>C (p.Tyr3200=)
c.2865T>C (p.Tyr955=)
n.3121T>C
c.276T>C (p.Tyr92=)
c.9780T>C (p.Tyr3260=)
c.9714T>C (p.Tyr3238=)
c.9777T>C (p.Tyr3259=)
c.9774T>C (p.Tyr3258=)
c.9720T>C (p.Tyr3240=)
c.9690T>C (p.Tyr3230=)
c.9645T>C (p.Tyr3215=)
c.9240T>C (p.Tyr3080=)
c.8598T>C (p.Tyr2866=)
c.6108T>C (p.Tyr2036=)
10g.71812842T>GCA377137083CDH23c.9585T>G (p.Tyr3195Ter)
c.3518T>G (n.3518T>G)
c.3182T>G (n.3182T>G)
c.9600T>G (p.Tyr3200Ter)
c.2865T>G (p.Tyr955Ter)
n.3121T>G
c.276T>G (p.Tyr92Ter)
c.9780T>G (p.Tyr3260Ter)
c.9714T>G (p.Tyr3238Ter)
c.9777T>G (p.Tyr3259Ter)
c.9774T>G (p.Tyr3258Ter)
c.9720T>G (p.Tyr3240Ter)
c.9690T>G (p.Tyr3230Ter)
c.9645T>G (p.Tyr3215Ter)
c.9240T>G (p.Tyr3080Ter)
c.8598T>G (p.Tyr2866Ter)
c.6108T>G (p.Tyr2036Ter)
10g.71812843G>ACA377137086CDH23c.9586G>A (p.Asp3196Asn)
c.3519G>A (n.3519G>A)
c.3183G>A (n.3183G>A)
c.9601G>A (p.Asp3201Asn)
c.2866G>A (p.Asp956Asn)
n.3122G>A
c.277G>A (p.Asp93Asn)
c.9781G>A (p.Asp3261Asn)
c.9715G>A (p.Asp3239Asn)
c.9778G>A (p.Asp3260Asn)
c.9775G>A (p.Asp3259Asn)
c.9721G>A (p.Asp3241Asn)
c.9691G>A (p.Asp3231Asn)
c.9646G>A (p.Asp3216Asn)
c.9241G>A (p.Asp3081Asn)
c.8599G>A (p.Asp2867Asn)
c.6109G>A (p.Asp2037Asn)
10g.71812843G>CCA377137085CDH23c.9586G>C (p.Asp3196His)
c.3519G>C (n.3519G>C)
c.3183G>C (n.3183G>C)
c.9601G>C (p.Asp3201His)
c.2866G>C (p.Asp956His)
n.3122G>C
c.277G>C (p.Asp93His)
c.9781G>C (p.Asp3261His)
c.9715G>C (p.Asp3239His)
c.9778G>C (p.Asp3260His)
c.9775G>C (p.Asp3259His)
c.9721G>C (p.Asp3241His)
c.9691G>C (p.Asp3231His)
c.9646G>C (p.Asp3216His)
c.9241G>C (p.Asp3081His)
c.8599G>C (p.Asp2867His)
c.6109G>C (p.Asp2037His)
10g.71812843G>TCA377137084CDH23c.9586G>T (p.Asp3196Tyr)
c.3519G>T (n.3519G>T)
c.3183G>T (n.3183G>T)
c.9601G>T (p.Asp3201Tyr)
c.2866G>T (p.Asp956Tyr)
n.3122G>T
c.277G>T (p.Asp93Tyr)
c.9781G>T (p.Asp3261Tyr)
c.9715G>T (p.Asp3239Tyr)
c.9778G>T (p.Asp3260Tyr)
c.9775G>T (p.Asp3259Tyr)
c.9721G>T (p.Asp3241Tyr)
c.9691G>T (p.Asp3231Tyr)
c.9646G>T (p.Asp3216Tyr)
c.9241G>T (p.Asp3081Tyr)
c.8599G>T (p.Asp2867Tyr)
c.6109G>T (p.Asp2037Tyr)
10g.71812843_71812846delinsGACACA1918892775CDH23c.9586_9589delinsGACA (p.Asp3196=)
c.3519_3522delinsGACA (n.3519_3522delinsGACA)
c.3183_3186delinsGACA (n.3183_3186delinsGACA)
c.9601_9604delinsGACA (p.Asp3201=)
c.2866_2869delinsGACA (p.Asp956=)
n.3122_3125delinsGACA
c.277_280delinsGACA (p.Asp93=)
c.9781_9784delinsGACA (p.Asp3261=)
c.9715_9718delinsGACA (p.Asp3239=)
c.9778_9781delinsGACA (p.Asp3260=)
c.9775_9778delinsGACA (p.Asp3259=)
c.9721_9724delinsGACA (p.Asp3241=)
c.9691_9694delinsGACA (p.Asp3231=)
c.9646_9649delinsGACA (p.Asp3216=)
c.9241_9244delinsGACA (p.Asp3081=)
c.8599_8602delinsGACA (p.Asp2867=)
c.6109_6112delinsGACA (p.Asp2037=)
10g.71812844A>CCA377137087CDH23c.9587A>C (p.Asp3196Ala)
c.3520A>C (n.3520A>C)
c.3184A>C (n.3184A>C)
c.9602A>C (p.Asp3201Ala)
c.2867A>C (p.Asp956Ala)
n.3123A>C
c.278A>C (p.Asp93Ala)
c.9782A>C (p.Asp3261Ala)
c.9716A>C (p.Asp3239Ala)
c.9779A>C (p.Asp3260Ala)
c.9776A>C (p.Asp3259Ala)
c.9722A>C (p.Asp3241Ala)
c.9692A>C (p.Asp3231Ala)
c.9647A>C (p.Asp3216Ala)
c.9242A>C (p.Asp3081Ala)
c.8600A>C (p.Asp2867Ala)
c.6110A>C (p.Asp2037Ala)
10g.71812844A>GCA377137088CDH23c.9587A>G (p.Asp3196Gly)
c.3520A>G (n.3520A>G)
c.3184A>G (n.3184A>G)
c.9602A>G (p.Asp3201Gly)
c.2867A>G (p.Asp956Gly)
n.3123A>G
c.278A>G (p.Asp93Gly)
c.9782A>G (p.Asp3261Gly)
c.9716A>G (p.Asp3239Gly)
c.9779A>G (p.Asp3260Gly)
c.9776A>G (p.Asp3259Gly)
c.9722A>G (p.Asp3241Gly)
c.9692A>G (p.Asp3231Gly)
c.9647A>G (p.Asp3216Gly)
c.9242A>G (p.Asp3081Gly)
c.8600A>G (p.Asp2867Gly)
c.6110A>G (p.Asp2037Gly)
 dbSNP
10g.71812844A>TCA377137089CDH23c.9587A>T (p.Asp3196Val)
c.3520A>T (n.3520A>T)
c.3184A>T (n.3184A>T)
c.9602A>T (p.Asp3201Val)
c.2867A>T (p.Asp956Val)
n.3123A>T
c.278A>T (p.Asp93Val)
c.9782A>T (p.Asp3261Val)
c.9716A>T (p.Asp3239Val)
c.9779A>T (p.Asp3260Val)
c.9776A>T (p.Asp3259Val)
c.9722A>T (p.Asp3241Val)
c.9692A>T (p.Asp3231Val)
c.9647A>T (p.Asp3216Val)
c.9242A>T (p.Asp3081Val)
c.8600A>T (p.Asp2867Val)
c.6110A>T (p.Asp2037Val)
10g.71812847_71812849delCA5547131CDH23c.9590_9592del (p.Asn3197del)
c.3523_3525del (n.3523_3525del)
c.3187_3189del (n.3187_3189del)
c.9605_9607del (p.Asn3202del)
c.2870_2872del (p.Asn957del)
n.3126_3128del
c.281_283del (p.Asn94del)
c.9785_9787del (p.Asn3262del)
c.9719_9721del (p.Asn3240del)
c.9782_9784del (p.Asn3261del)
c.9779_9781del (p.Asn3260del)
c.9725_9727del (p.Asn3242del)
c.9695_9697del (p.Asn3232del)
c.9650_9652del (p.Asn3217del)
c.9245_9247del (p.Asn3082del)
c.8603_8605del (p.Asn2868del)
c.6113_6115del (p.Asn2038del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71812845C>ACA377137090CDH23c.9588C>A (p.Asp3196Glu)
c.3521C>A (n.3521C>A)
c.3185C>A (n.3185C>A)
c.9603C>A (p.Asp3201Glu)
c.2868C>A (p.Asp956Glu)
n.3124C>A
c.279C>A (p.Asp93Glu)
c.9783C>A (p.Asp3261Glu)
c.9717C>A (p.Asp3239Glu)
c.9780C>A (p.Asp3260Glu)
c.9777C>A (p.Asp3259Glu)
c.9723C>A (p.Asp3241Glu)
c.9693C>A (p.Asp3231Glu)
c.9648C>A (p.Asp3216Glu)
c.9243C>A (p.Asp3081Glu)
c.8601C>A (p.Asp2867Glu)
c.6111C>A (p.Asp2037Glu)
10g.71812845C>GCA377137091CDH23c.9588C>G (p.Asp3196Glu)
c.3521C>G (n.3521C>G)
c.3185C>G (n.3185C>G)
c.9603C>G (p.Asp3201Glu)
c.2868C>G (p.Asp956Glu)
n.3124C>G
c.279C>G (p.Asp93Glu)
c.9783C>G (p.Asp3261Glu)
c.9717C>G (p.Asp3239Glu)
c.9780C>G (p.Asp3260Glu)
c.9777C>G (p.Asp3259Glu)
c.9723C>G (p.Asp3241Glu)
c.9693C>G (p.Asp3231Glu)
c.9648C>G (p.Asp3216Glu)
c.9243C>G (p.Asp3081Glu)
c.8601C>G (p.Asp2867Glu)
c.6111C>G (p.Asp2037Glu)
10g.71812845C>TCA470282910CDH23c.9588C>T (p.Asp3196=)
c.3521C>T (n.3521C>T)
c.3185C>T (n.3185C>T)
c.9603C>T (p.Asp3201=)
c.2868C>T (p.Asp956=)
n.3124C>T
c.279C>T (p.Asp93=)
c.9783C>T (p.Asp3261=)
c.9717C>T (p.Asp3239=)
c.9780C>T (p.Asp3260=)
c.9777C>T (p.Asp3259=)
c.9723C>T (p.Asp3241=)
c.9693C>T (p.Asp3231=)
c.9648C>T (p.Asp3216=)
c.9243C>T (p.Asp3081=)
c.8601C>T (p.Asp2867=)
c.6111C>T (p.Asp2037=)
 ClinVar
10g.71812846A>CCA377137092CDH23c.9589A>C (p.Asn3197His)
c.3522A>C (n.3522A>C)
c.3186A>C (n.3186A>C)
c.9604A>C (p.Asn3202His)
c.2869A>C (p.Asn957His)
n.3125A>C
c.280A>C (p.Asn94His)
c.9784A>C (p.Asn3262His)
c.9718A>C (p.Asn3240His)
c.9781A>C (p.Asn3261His)
c.9778A>C (p.Asn3260His)
c.9724A>C (p.Asn3242His)
c.9694A>C (p.Asn3232His)
c.9649A>C (p.Asn3217His)
c.9244A>C (p.Asn3082His)
c.8602A>C (p.Asn2868His)
c.6112A>C (p.Asn2038His)
10g.71812846A>GCA377137093CDH23c.9589A>G (p.Asn3197Asp)
c.3522A>G (n.3522A>G)
c.3186A>G (n.3186A>G)
c.9604A>G (p.Asn3202Asp)
c.2869A>G (p.Asn957Asp)
n.3125A>G
c.280A>G (p.Asn94Asp)
c.9784A>G (p.Asn3262Asp)
c.9718A>G (p.Asn3240Asp)
c.9781A>G (p.Asn3261Asp)
c.9778A>G (p.Asn3260Asp)
c.9724A>G (p.Asn3242Asp)
c.9694A>G (p.Asn3232Asp)
c.9649A>G (p.Asn3217Asp)
c.9244A>G (p.Asn3082Asp)
c.8602A>G (p.Asn2868Asp)
c.6112A>G (p.Asn2038Asp)
10g.71812846A>TCA377137094CDH23c.9589A>T (p.Asn3197Tyr)
c.3522A>T (n.3522A>T)
c.3186A>T (n.3186A>T)
c.9604A>T (p.Asn3202Tyr)
c.2869A>T (p.Asn957Tyr)
n.3125A>T
c.280A>T (p.Asn94Tyr)
c.9784A>T (p.Asn3262Tyr)
c.9718A>T (p.Asn3240Tyr)
c.9781A>T (p.Asn3261Tyr)
c.9778A>T (p.Asn3260Tyr)
c.9724A>T (p.Asn3242Tyr)
c.9694A>T (p.Asn3232Tyr)
c.9649A>T (p.Asn3217Tyr)
c.9244A>T (p.Asn3082Tyr)
c.8602A>T (p.Asn2868Tyr)
c.6112A>T (p.Asn2038Tyr)
10g.71812847A>CCA377137095CDH23c.9590A>C (p.Asn3197Thr)
c.3523A>C (n.3523A>C)
c.3187A>C (n.3187A>C)
c.9605A>C (p.Asn3202Thr)
c.2870A>C (p.Asn957Thr)
n.3126A>C
c.281A>C (p.Asn94Thr)
c.9785A>C (p.Asn3262Thr)
c.9719A>C (p.Asn3240Thr)
c.9782A>C (p.Asn3261Thr)
c.9779A>C (p.Asn3260Thr)
c.9725A>C (p.Asn3242Thr)
c.9695A>C (p.Asn3232Thr)
c.9650A>C (p.Asn3217Thr)
c.9245A>C (p.Asn3082Thr)
c.8603A>C (p.Asn2868Thr)
c.6113A>C (p.Asn2038Thr)
10g.71812847A>GCA377137096CDH23c.9590A>G (p.Asn3197Ser)
c.3523A>G (n.3523A>G)
c.3187A>G (n.3187A>G)
c.9605A>G (p.Asn3202Ser)
c.2870A>G (p.Asn957Ser)
n.3126A>G
c.281A>G (p.Asn94Ser)
c.9785A>G (p.Asn3262Ser)
c.9719A>G (p.Asn3240Ser)
c.9782A>G (p.Asn3261Ser)
c.9779A>G (p.Asn3260Ser)
c.9725A>G (p.Asn3242Ser)
c.9695A>G (p.Asn3232Ser)
c.9650A>G (p.Asn3217Ser)
c.9245A>G (p.Asn3082Ser)
c.8603A>G (p.Asn2868Ser)
c.6113A>G (p.Asn2038Ser)
 gnomAD v4
10g.71812847A>TCA377137097CDH23c.9590A>T (p.Asn3197Ile)
c.3523A>T (n.3523A>T)
c.3187A>T (n.3187A>T)
c.9605A>T (p.Asn3202Ile)
c.2870A>T (p.Asn957Ile)
n.3126A>T
c.281A>T (p.Asn94Ile)
c.9785A>T (p.Asn3262Ile)
c.9719A>T (p.Asn3240Ile)
c.9782A>T (p.Asn3261Ile)
c.9779A>T (p.Asn3260Ile)
c.9725A>T (p.Asn3242Ile)
c.9695A>T (p.Asn3232Ile)
c.9650A>T (p.Asn3217Ile)
c.9245A>T (p.Asn3082Ile)
c.8603A>T (p.Asn2868Ile)
c.6113A>T (p.Asn2038Ile)
10g.71812848C>ACA377137098CDH23c.9591C>A (p.Asn3197Lys)
c.3524C>A (n.3524C>A)
c.3188C>A (n.3188C>A)
c.9606C>A (p.Asn3202Lys)
c.2871C>A (p.Asn957Lys)
n.3127C>A
c.282C>A (p.Asn94Lys)
c.9786C>A (p.Asn3262Lys)
c.9720C>A (p.Asn3240Lys)
c.9783C>A (p.Asn3261Lys)
c.9780C>A (p.Asn3260Lys)
c.9726C>A (p.Asn3242Lys)
c.9696C>A (p.Asn3232Lys)
c.9651C>A (p.Asn3217Lys)
c.9246C>A (p.Asn3082Lys)
c.8604C>A (p.Asn2868Lys)
c.6114C>A (p.Asn2038Lys)
10g.71812848C=CA1918892780CDH23c.9591C= (p.Asn3197=)
c.3524C= (n.3524C=)
c.3188C= (n.3188C=)
c.9606C= (p.Asn3202=)
c.2871C= (p.Asn957=)
n.3127C=
c.282C= (p.Asn94=)
c.9786C= (p.Asn3262=)
c.9720C= (p.Asn3240=)
c.9783C= (p.Asn3261=)
c.9780C= (p.Asn3260=)
c.9726C= (p.Asn3242=)
c.9696C= (p.Asn3232=)
c.9651C= (p.Asn3217=)
c.9246C= (p.Asn3082=)
c.8604C= (p.Asn2868=)
c.6114C= (p.Asn2038=)
10g.71812848C>GCA377137099CDH23c.9591C>G (p.Asn3197Lys)
c.3524C>G (n.3524C>G)
c.3188C>G (n.3188C>G)
c.9606C>G (p.Asn3202Lys)
c.2871C>G (p.Asn957Lys)
n.3127C>G
c.282C>G (p.Asn94Lys)
c.9786C>G (p.Asn3262Lys)
c.9720C>G (p.Asn3240Lys)
c.9783C>G (p.Asn3261Lys)
c.9780C>G (p.Asn3260Lys)
c.9726C>G (p.Asn3242Lys)
c.9696C>G (p.Asn3232Lys)
c.9651C>G (p.Asn3217Lys)
c.9246C>G (p.Asn3082Lys)
c.8604C>G (p.Asn2868Lys)
c.6114C>G (p.Asn2038Lys)
10g.71812848C>TCA470282914CDH23c.9591C>T (p.Asn3197=)
c.3524C>T (n.3524C>T)
c.3188C>T (n.3188C>T)
c.9606C>T (p.Asn3202=)
c.2871C>T (p.Asn957=)
n.3127C>T
c.282C>T (p.Asn94=)
c.9786C>T (p.Asn3262=)
c.9720C>T (p.Asn3240=)
c.9783C>T (p.Asn3261=)
c.9780C>T (p.Asn3260=)
c.9726C>T (p.Asn3242=)
c.9696C>T (p.Asn3232=)
c.9651C>T (p.Asn3217=)
c.9246C>T (p.Asn3082=)
c.8604C>T (p.Asn2868=)
c.6114C>T (p.Asn2038=)
 dbSNP
10g.71812849A=CA1918892784CDH23c.9592A= (p.Ile3198=)
c.3525A= (n.3525A=)
c.3189A= (n.3189A=)
c.9607A= (p.Ile3203=)
c.2872A= (p.Ile958=)
n.3128A=
c.283A= (p.Ile95=)
c.9787A= (p.Ile3263=)
c.9721A= (p.Ile3241=)
c.9784A= (p.Ile3262=)
c.9781A= (p.Ile3261=)
c.9727A= (p.Ile3243=)
c.9697A= (p.Ile3233=)
c.9652A= (p.Ile3218=)
c.9247A= (p.Ile3083=)
c.8605A= (p.Ile2869=)
c.6115A= (p.Ile2039=)
10g.71812849A>CCA377137101CDH23c.9592A>C (p.Ile3198Leu)
c.3525A>C (n.3525A>C)
c.3189A>C (n.3189A>C)
c.9607A>C (p.Ile3203Leu)
c.2872A>C (p.Ile958Leu)
n.3128A>C
c.283A>C (p.Ile95Leu)
c.9787A>C (p.Ile3263Leu)
c.9721A>C (p.Ile3241Leu)
c.9784A>C (p.Ile3262Leu)
c.9781A>C (p.Ile3261Leu)
c.9727A>C (p.Ile3243Leu)
c.9697A>C (p.Ile3233Leu)
c.9652A>C (p.Ile3218Leu)
c.9247A>C (p.Ile3083Leu)
c.8605A>C (p.Ile2869Leu)
c.6115A>C (p.Ile2039Leu)
10g.71812849A>GCA377137102CDH23c.9592A>G (p.Ile3198Val)
c.3525A>G (n.3525A>G)
c.3189A>G (n.3189A>G)
c.9607A>G (p.Ile3203Val)
c.2872A>G (p.Ile958Val)
n.3128A>G
c.283A>G (p.Ile95Val)
c.9787A>G (p.Ile3263Val)
c.9721A>G (p.Ile3241Val)
c.9784A>G (p.Ile3262Val)
c.9781A>G (p.Ile3261Val)
c.9727A>G (p.Ile3243Val)
c.9697A>G (p.Ile3233Val)
c.9652A>G (p.Ile3218Val)
c.9247A>G (p.Ile3083Val)
c.8605A>G (p.Ile2869Val)
c.6115A>G (p.Ile2039Val)
 dbSNP gnomAD v4
10g.71812849A>TCA377137100CDH23c.9592A>T (p.Ile3198Phe)
c.3525A>T (n.3525A>T)
c.3189A>T (n.3189A>T)
c.9607A>T (p.Ile3203Phe)
c.2872A>T (p.Ile958Phe)
n.3128A>T
c.283A>T (p.Ile95Phe)
c.9787A>T (p.Ile3263Phe)
c.9721A>T (p.Ile3241Phe)
c.9784A>T (p.Ile3262Phe)
c.9781A>T (p.Ile3261Phe)
c.9727A>T (p.Ile3243Phe)
c.9697A>T (p.Ile3233Phe)
c.9652A>T (p.Ile3218Phe)
c.9247A>T (p.Ile3083Phe)
c.8605A>T (p.Ile2869Phe)
c.6115A>T (p.Ile2039Phe)
10g.71812850T>ACA377137103CDH23c.9593T>A (p.Ile3198Asn)
c.3526T>A (n.3526T>A)
c.3190T>A (n.3190T>A)
c.9608T>A (p.Ile3203Asn)
c.2873T>A (p.Ile958Asn)
n.3129T>A
c.284T>A (p.Ile95Asn)
c.9788T>A (p.Ile3263Asn)
c.9722T>A (p.Ile3241Asn)
c.9785T>A (p.Ile3262Asn)
c.9782T>A (p.Ile3261Asn)
c.9728T>A (p.Ile3243Asn)
c.9698T>A (p.Ile3233Asn)
c.9653T>A (p.Ile3218Asn)
c.9248T>A (p.Ile3083Asn)
c.8606T>A (p.Ile2869Asn)
c.6116T>A (p.Ile2039Asn)
10g.71812850T>CCA377137104CDH23c.9593T>C (p.Ile3198Thr)
c.3526T>C (n.3526T>C)
c.3190T>C (n.3190T>C)
c.9608T>C (p.Ile3203Thr)
c.2873T>C (p.Ile958Thr)
n.3129T>C
c.284T>C (p.Ile95Thr)
c.9788T>C (p.Ile3263Thr)
c.9722T>C (p.Ile3241Thr)
c.9785T>C (p.Ile3262Thr)
c.9782T>C (p.Ile3261Thr)
c.9728T>C (p.Ile3243Thr)
c.9698T>C (p.Ile3233Thr)
c.9653T>C (p.Ile3218Thr)
c.9248T>C (p.Ile3083Thr)
c.8606T>C (p.Ile2869Thr)
c.6116T>C (p.Ile2039Thr)
10g.71812850T>GCA377137105CDH23c.9593T>G (p.Ile3198Ser)
c.3526T>G (n.3526T>G)
c.3190T>G (n.3190T>G)
c.9608T>G (p.Ile3203Ser)
c.2873T>G (p.Ile958Ser)
n.3129T>G
c.284T>G (p.Ile95Ser)
c.9788T>G (p.Ile3263Ser)
c.9722T>G (p.Ile3241Ser)
c.9785T>G (p.Ile3262Ser)
c.9782T>G (p.Ile3261Ser)
c.9728T>G (p.Ile3243Ser)
c.9698T>G (p.Ile3233Ser)
c.9653T>G (p.Ile3218Ser)
c.9248T>G (p.Ile3083Ser)
c.8606T>G (p.Ile2869Ser)
c.6116T>G (p.Ile2039Ser)
10g.71812851T>ACA470282918CDH23c.9594T>A (p.Ile3198=)
c.3527T>A (n.3527T>A)
c.3191T>A (n.3191T>A)
c.9609T>A (p.Ile3203=)
c.2874T>A (p.Ile958=)
n.3130T>A
c.285T>A (p.Ile95=)
c.9789T>A (p.Ile3263=)
c.9723T>A (p.Ile3241=)
c.9786T>A (p.Ile3262=)
c.9783T>A (p.Ile3261=)
c.9729T>A (p.Ile3243=)
c.9699T>A (p.Ile3233=)
c.9654T>A (p.Ile3218=)
c.9249T>A (p.Ile3083=)
c.8607T>A (p.Ile2869=)
c.6117T>A (p.Ile2039=)
10g.71812851T>CCA470282921CDH23c.9594T>C (p.Ile3198=)
c.3527T>C (n.3527T>C)
c.3191T>C (n.3191T>C)
c.9609T>C (p.Ile3203=)
c.2874T>C (p.Ile958=)
n.3130T>C
c.285T>C (p.Ile95=)
c.9789T>C (p.Ile3263=)
c.9723T>C (p.Ile3241=)
c.9786T>C (p.Ile3262=)
c.9783T>C (p.Ile3261=)
c.9729T>C (p.Ile3243=)
c.9699T>C (p.Ile3233=)
c.9654T>C (p.Ile3218=)
c.9249T>C (p.Ile3083=)
c.8607T>C (p.Ile2869=)
c.6117T>C (p.Ile2039=)
10g.71812851T>GCA377137106CDH23c.9594T>G (p.Ile3198Met)
c.3527T>G (n.3527T>G)
c.3191T>G (n.3191T>G)
c.9609T>G (p.Ile3203Met)
c.2874T>G (p.Ile958Met)
n.3130T>G
c.285T>G (p.Ile95Met)
c.9789T>G (p.Ile3263Met)
c.9723T>G (p.Ile3241Met)
c.9786T>G (p.Ile3262Met)
c.9783T>G (p.Ile3261Met)
c.9729T>G (p.Ile3243Met)
c.9699T>G (p.Ile3233Met)
c.9654T>G (p.Ile3218Met)
c.9249T>G (p.Ile3083Met)
c.8607T>G (p.Ile2869Met)
c.6117T>G (p.Ile2039Met)
10g.71812852G>ACA377137107CDH23c.9595G>A (p.Ala3199Thr)
c.3528G>A (n.3528G>A)
c.3192G>A (n.3192G>A)
c.9610G>A (p.Ala3204Thr)
c.2875G>A (p.Ala959Thr)
n.3131G>A
c.286G>A (p.Ala96Thr)
c.9790G>A (p.Ala3264Thr)
c.9724G>A (p.Ala3242Thr)
c.9787G>A (p.Ala3263Thr)
c.9784G>A (p.Ala3262Thr)
c.9730G>A (p.Ala3244Thr)
c.9700G>A (p.Ala3234Thr)
c.9655G>A (p.Ala3219Thr)
c.9250G>A (p.Ala3084Thr)
c.8608G>A (p.Ala2870Thr)
c.6118G>A (p.Ala2040Thr)
10g.71812852G>CCA377137108CDH23c.9595G>C (p.Ala3199Pro)
c.3528G>C (n.3528G>C)
c.3192G>C (n.3192G>C)
c.9610G>C (p.Ala3204Pro)
c.2875G>C (p.Ala959Pro)
n.3131G>C
c.286G>C (p.Ala96Pro)
c.9790G>C (p.Ala3264Pro)
c.9724G>C (p.Ala3242Pro)
c.9787G>C (p.Ala3263Pro)
c.9784G>C (p.Ala3262Pro)
c.9730G>C (p.Ala3244Pro)
c.9700G>C (p.Ala3234Pro)
c.9655G>C (p.Ala3219Pro)
c.9250G>C (p.Ala3084Pro)
c.8608G>C (p.Ala2870Pro)
c.6118G>C (p.Ala2040Pro)
10g.71812852G>TCA377137109CDH23c.9595G>T (p.Ala3199Ser)
c.3528G>T (n.3528G>T)
c.3192G>T (n.3192G>T)
c.9610G>T (p.Ala3204Ser)
c.2875G>T (p.Ala959Ser)
n.3131G>T
c.286G>T (p.Ala96Ser)
c.9790G>T (p.Ala3264Ser)
c.9724G>T (p.Ala3242Ser)
c.9787G>T (p.Ala3263Ser)
c.9784G>T (p.Ala3262Ser)
c.9730G>T (p.Ala3244Ser)
c.9700G>T (p.Ala3234Ser)
c.9655G>T (p.Ala3219Ser)
c.9250G>T (p.Ala3084Ser)
c.8608G>T (p.Ala2870Ser)
c.6118G>T (p.Ala2040Ser)
10g.71812853C>ACA377137110CDH23c.9596C>A (p.Ala3199Asp)
c.3529C>A (n.3529C>A)
c.3193C>A (n.3193C>A)
c.9611C>A (p.Ala3204Asp)
c.2876C>A (p.Ala959Asp)
n.3132C>A
c.287C>A (p.Ala96Asp)
c.9791C>A (p.Ala3264Asp)
c.9725C>A (p.Ala3242Asp)
c.9788C>A (p.Ala3263Asp)
c.9785C>A (p.Ala3262Asp)
c.9731C>A (p.Ala3244Asp)
c.9701C>A (p.Ala3234Asp)
c.9656C>A (p.Ala3219Asp)
c.9251C>A (p.Ala3084Asp)
c.8609C>A (p.Ala2870Asp)
c.6119C>A (p.Ala2040Asp)
 dbSNP
10g.71812853C=CA1918892786CDH23c.9596C= (p.Ala3199=)
c.3529C= (n.3529C=)
c.3193C= (n.3193C=)
c.9611C= (p.Ala3204=)
c.2876C= (p.Ala959=)
n.3132C=
c.287C= (p.Ala96=)
c.9791C= (p.Ala3264=)
c.9725C= (p.Ala3242=)
c.9788C= (p.Ala3263=)
c.9785C= (p.Ala3262=)
c.9731C= (p.Ala3244=)
c.9701C= (p.Ala3234=)
c.9656C= (p.Ala3219=)
c.9251C= (p.Ala3084=)
c.8609C= (p.Ala2870=)
c.6119C= (p.Ala2040=)
10g.71812853C>GCA377137111CDH23c.9596C>G (p.Ala3199Gly)
c.3529C>G (n.3529C>G)
c.3193C>G (n.3193C>G)
c.9611C>G (p.Ala3204Gly)
c.2876C>G (p.Ala959Gly)
n.3132C>G
c.287C>G (p.Ala96Gly)
c.9791C>G (p.Ala3264Gly)
c.9725C>G (p.Ala3242Gly)
c.9788C>G (p.Ala3263Gly)
c.9785C>G (p.Ala3262Gly)
c.9731C>G (p.Ala3244Gly)
c.9701C>G (p.Ala3234Gly)
c.9656C>G (p.Ala3219Gly)
c.9251C>G (p.Ala3084Gly)
c.8609C>G (p.Ala2870Gly)
c.6119C>G (p.Ala2040Gly)
10g.71812853C>TCA377137112CDH23c.9596C>T (p.Ala3199Val)
c.3529C>T (n.3529C>T)
c.3193C>T (n.3193C>T)
c.9611C>T (p.Ala3204Val)
c.2876C>T (p.Ala959Val)
n.3132C>T
c.287C>T (p.Ala96Val)
c.9791C>T (p.Ala3264Val)
c.9725C>T (p.Ala3242Val)
c.9788C>T (p.Ala3263Val)
c.9785C>T (p.Ala3262Val)
c.9731C>T (p.Ala3244Val)
c.9701C>T (p.Ala3234Val)
c.9656C>T (p.Ala3219Val)
c.9251C>T (p.Ala3084Val)
c.8609C>T (p.Ala2870Val)
c.6119C>T (p.Ala2040Val)
10g.71812854C>ACA470282926CDH23c.9597C>A (p.Ala3199=)
c.3530C>A (n.3530C>A)
c.3194C>A (n.3194C>A)
c.9612C>A (p.Ala3204=)
c.2877C>A (p.Ala959=)
n.3133C>A
c.288C>A (p.Ala96=)
c.9792C>A (p.Ala3264=)
c.9726C>A (p.Ala3242=)
c.9789C>A (p.Ala3263=)
c.9786C>A (p.Ala3262=)
c.9732C>A (p.Ala3244=)
c.9702C>A (p.Ala3234=)
c.9657C>A (p.Ala3219=)
c.9252C>A (p.Ala3084=)
c.8610C>A (p.Ala2870=)
c.6120C>A (p.Ala2040=)
10g.71812854C>GCA470282927CDH23c.9597C>G (p.Ala3199=)
c.3530C>G (n.3530C>G)
c.3194C>G (n.3194C>G)
c.9612C>G (p.Ala3204=)
c.2877C>G (p.Ala959=)
n.3133C>G
c.288C>G (p.Ala96=)
c.9792C>G (p.Ala3264=)
c.9726C>G (p.Ala3242=)
c.9789C>G (p.Ala3263=)
c.9786C>G (p.Ala3262=)
c.9732C>G (p.Ala3244=)
c.9702C>G (p.Ala3234=)
c.9657C>G (p.Ala3219=)
c.9252C>G (p.Ala3084=)
c.8610C>G (p.Ala2870=)
c.6120C>G (p.Ala2040=)
10g.71812854C>TCA470282929CDH23c.9597C>T (p.Ala3199=)
c.3530C>T (n.3530C>T)
c.3194C>T (n.3194C>T)
c.9612C>T (p.Ala3204=)
c.2877C>T (p.Ala959=)
n.3133C>T
c.288C>T (p.Ala96=)
c.9792C>T (p.Ala3264=)
c.9726C>T (p.Ala3242=)
c.9789C>T (p.Ala3263=)
c.9786C>T (p.Ala3262=)
c.9732C>T (p.Ala3244=)
c.9702C>T (p.Ala3234=)
c.9657C>T (p.Ala3219=)
c.9252C>T (p.Ala3084=)
c.8610C>T (p.Ala2870=)
c.6120C>T (p.Ala2040=)
 gnomAD v4
10g.71812855A>CCA377137113CDH23c.9598A>C (p.Lys3200Gln)
c.3531A>C (n.3531A>C)
c.3195A>C (n.3195A>C)
c.9613A>C (p.Lys3205Gln)
c.2878A>C (p.Lys960Gln)
n.3134A>C
c.289A>C (p.Lys97Gln)
c.9793A>C (p.Lys3265Gln)
c.9727A>C (p.Lys3243Gln)
c.9790A>C (p.Lys3264Gln)
c.9787A>C (p.Lys3263Gln)
c.9733A>C (p.Lys3245Gln)
c.9703A>C (p.Lys3235Gln)
c.9658A>C (p.Lys3220Gln)
c.9253A>C (p.Lys3085Gln)
c.8611A>C (p.Lys2871Gln)
c.6121A>C (p.Lys2041Gln)
10g.71812855A>GCA377137114CDH23c.9598A>G (p.Lys3200Glu)
c.3531A>G (n.3531A>G)
c.3195A>G (n.3195A>G)
c.9613A>G (p.Lys3205Glu)
c.2878A>G (p.Lys960Glu)
n.3134A>G
c.289A>G (p.Lys97Glu)
c.9793A>G (p.Lys3265Glu)
c.9727A>G (p.Lys3243Glu)
c.9790A>G (p.Lys3264Glu)
c.9787A>G (p.Lys3263Glu)
c.9733A>G (p.Lys3245Glu)
c.9703A>G (p.Lys3235Glu)
c.9658A>G (p.Lys3220Glu)
c.9253A>G (p.Lys3085Glu)
c.8611A>G (p.Lys2871Glu)
c.6121A>G (p.Lys2041Glu)
10g.71812855A>TCA377137115CDH23c.9598A>T (p.Lys3200Ter)
c.3531A>T (n.3531A>T)
c.3195A>T (n.3195A>T)
c.9613A>T (p.Lys3205Ter)
c.2878A>T (p.Lys960Ter)
n.3134A>T
c.289A>T (p.Lys97Ter)
c.9793A>T (p.Lys3265Ter)
c.9727A>T (p.Lys3243Ter)
c.9790A>T (p.Lys3264Ter)
c.9787A>T (p.Lys3263Ter)
c.9733A>T (p.Lys3245Ter)
c.9703A>T (p.Lys3235Ter)
c.9658A>T (p.Lys3220Ter)
c.9253A>T (p.Lys3085Ter)
c.8611A>T (p.Lys2871Ter)
c.6121A>T (p.Lys2041Ter)
10g.71812856A>CCA377137116CDH23c.9599A>C (p.Lys3200Thr)
c.3532A>C (n.3532A>C)
c.3196A>C (n.3196A>C)
c.9614A>C (p.Lys3205Thr)
c.2879A>C (p.Lys960Thr)
n.3135A>C
c.290A>C (p.Lys97Thr)
c.9794A>C (p.Lys3265Thr)
c.9728A>C (p.Lys3243Thr)
c.9791A>C (p.Lys3264Thr)
c.9788A>C (p.Lys3263Thr)
c.9734A>C (p.Lys3245Thr)
c.9704A>C (p.Lys3235Thr)
c.9659A>C (p.Lys3220Thr)
c.9254A>C (p.Lys3085Thr)
c.8612A>C (p.Lys2871Thr)
c.6122A>C (p.Lys2041Thr)
10g.71812856A>GCA377137118CDH23c.9599A>G (p.Lys3200Arg)
c.3532A>G (n.3532A>G)
c.3196A>G (n.3196A>G)
c.9614A>G (p.Lys3205Arg)
c.2879A>G (p.Lys960Arg)
n.3135A>G
c.290A>G (p.Lys97Arg)
c.9794A>G (p.Lys3265Arg)
c.9728A>G (p.Lys3243Arg)
c.9791A>G (p.Lys3264Arg)
c.9788A>G (p.Lys3263Arg)
c.9734A>G (p.Lys3245Arg)
c.9704A>G (p.Lys3235Arg)
c.9659A>G (p.Lys3220Arg)
c.9254A>G (p.Lys3085Arg)
c.8612A>G (p.Lys2871Arg)
c.6122A>G (p.Lys2041Arg)
 gnomAD v4
10g.71812856A>TCA377137117CDH23c.9599A>T (p.Lys3200Met)
c.3532A>T (n.3532A>T)
c.3196A>T (n.3196A>T)
c.9614A>T (p.Lys3205Met)
c.2879A>T (p.Lys960Met)
n.3135A>T
c.290A>T (p.Lys97Met)
c.9794A>T (p.Lys3265Met)
c.9728A>T (p.Lys3243Met)
c.9791A>T (p.Lys3264Met)
c.9788A>T (p.Lys3263Met)
c.9734A>T (p.Lys3245Met)
c.9704A>T (p.Lys3235Met)
c.9659A>T (p.Lys3220Met)
c.9254A>T (p.Lys3085Met)
c.8612A>T (p.Lys2871Met)
c.6122A>T (p.Lys2041Met)
10g.71812857G>ACA470282935CDH23c.9600G>A (p.Lys3200=)
c.3533G>A (n.3533G>A)
c.3197G>A (n.3197G>A)
c.9615G>A (p.Lys3205=)
c.2880G>A (p.Lys960=)
n.3136G>A
c.291G>A (p.Lys97=)
c.9795G>A (p.Lys3265=)
c.9729G>A (p.Lys3243=)
c.9792G>A (p.Lys3264=)
c.9789G>A (p.Lys3263=)
c.9735G>A (p.Lys3245=)
c.9705G>A (p.Lys3235=)
c.9660G>A (p.Lys3220=)
c.9255G>A (p.Lys3085=)
c.8613G>A (p.Lys2871=)
c.6123G>A (p.Lys2041=)
 ClinVar dbSNP gnomAD v4
10g.71812857G>CCA377137119CDH23c.9600G>C (p.Lys3200Asn)
c.3533G>C (n.3533G>C)
c.3197G>C (n.3197G>C)
c.9615G>C (p.Lys3205Asn)
c.2880G>C (p.Lys960Asn)
n.3136G>C
c.291G>C (p.Lys97Asn)
c.9795G>C (p.Lys3265Asn)
c.9729G>C (p.Lys3243Asn)
c.9792G>C (p.Lys3264Asn)
c.9789G>C (p.Lys3263Asn)
c.9735G>C (p.Lys3245Asn)
c.9705G>C (p.Lys3235Asn)
c.9660G>C (p.Lys3220Asn)
c.9255G>C (p.Lys3085Asn)
c.8613G>C (p.Lys2871Asn)
c.6123G>C (p.Lys2041Asn)
 dbSNP gnomAD v2 gnomAD v4
10g.71812857G=CA1918892788CDH23c.9600G= (p.Lys3200=)
c.3533G= (n.3533G=)
c.3197G= (n.3197G=)
c.9615G= (p.Lys3205=)
c.2880G= (p.Lys960=)
n.3136G=
c.291G= (p.Lys97=)
c.9795G= (p.Lys3265=)
c.9729G= (p.Lys3243=)
c.9792G= (p.Lys3264=)
c.9789G= (p.Lys3263=)
c.9735G= (p.Lys3245=)
c.9705G= (p.Lys3235=)
c.9660G= (p.Lys3220=)
c.9255G= (p.Lys3085=)
c.8613G= (p.Lys2871=)
c.6123G= (p.Lys2041=)
10g.71812857G>TCA377137120CDH23c.9600G>T (p.Lys3200Asn)
c.3533G>T (n.3533G>T)
c.3197G>T (n.3197G>T)
c.9615G>T (p.Lys3205Asn)
c.2880G>T (p.Lys960Asn)
n.3136G>T
c.291G>T (p.Lys97Asn)
c.9795G>T (p.Lys3265Asn)
c.9729G>T (p.Lys3243Asn)
c.9792G>T (p.Lys3264Asn)
c.9789G>T (p.Lys3263Asn)
c.9735G>T (p.Lys3245Asn)
c.9705G>T (p.Lys3235Asn)
c.9660G>T (p.Lys3220Asn)
c.9255G>T (p.Lys3085Asn)
c.8613G>T (p.Lys2871Asn)
c.6123G>T (p.Lys2041Asn)
10g.71812858C>ACA377137121CDH23c.9601C>A (p.Leu3201Met)
c.3534C>A (n.3534C>A)
c.3198C>A (n.3198C>A)
c.9616C>A (p.Leu3206Met)
c.2881C>A (p.Leu961Met)
n.3137C>A
c.292C>A (p.Leu98Met)
c.9796C>A (p.Leu3266Met)
c.9730C>A (p.Leu3244Met)
c.9793C>A (p.Leu3265Met)
c.9790C>A (p.Leu3264Met)
c.9736C>A (p.Leu3246Met)
c.9706C>A (p.Leu3236Met)
c.9661C>A (p.Leu3221Met)
c.9256C>A (p.Leu3086Met)
c.8614C>A (p.Leu2872Met)
c.6124C>A (p.Leu2042Met)
10g.71812858C=CA1918892791CDH23c.9601C= (p.Leu3201=)
c.3534C= (n.3534C=)
c.3198C= (n.3198C=)
c.9616C= (p.Leu3206=)
c.2881C= (p.Leu961=)
n.3137C=
c.292C= (p.Leu98=)
c.9796C= (p.Leu3266=)
c.9730C= (p.Leu3244=)
c.9793C= (p.Leu3265=)
c.9790C= (p.Leu3264=)
c.9736C= (p.Leu3246=)
c.9706C= (p.Leu3236=)
c.9661C= (p.Leu3221=)
c.9256C= (p.Leu3086=)
c.8614C= (p.Leu2872=)
c.6124C= (p.Leu2042=)
10g.71812858C>GCA5547132CDH23c.9601C>G (p.Leu3201Val)
c.3534C>G (n.3534C>G)
c.3198C>G (n.3198C>G)
c.9616C>G (p.Leu3206Val)
c.2881C>G (p.Leu961Val)
n.3137C>G
c.292C>G (p.Leu98Val)
c.9796C>G (p.Leu3266Val)
c.9730C>G (p.Leu3244Val)
c.9793C>G (p.Leu3265Val)
c.9790C>G (p.Leu3264Val)
c.9736C>G (p.Leu3246Val)
c.9706C>G (p.Leu3236Val)
c.9661C>G (p.Leu3221Val)
c.9256C>G (p.Leu3086Val)
c.8614C>G (p.Leu2872Val)
c.6124C>G (p.Leu2042Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71812858C>TCA470282939CDH23c.9601C>T (p.Leu3201=)
c.3534C>T (n.3534C>T)
c.3198C>T (n.3198C>T)
c.9616C>T (p.Leu3206=)
c.2881C>T (p.Leu961=)
n.3137C>T
c.292C>T (p.Leu98=)
c.9796C>T (p.Leu3266=)
c.9730C>T (p.Leu3244=)
c.9793C>T (p.Leu3265=)
c.9790C>T (p.Leu3264=)
c.9736C>T (p.Leu3246=)
c.9706C>T (p.Leu3236=)
c.9661C>T (p.Leu3221=)
c.9256C>T (p.Leu3086=)
c.8614C>T (p.Leu2872=)
c.6124C>T (p.Leu2042=)
10g.71812859T>ACA377137122CDH23c.9602T>A (p.Leu3201Gln)
c.3535T>A (n.3535T>A)
c.3199T>A (n.3199T>A)
c.9617T>A (p.Leu3206Gln)
c.2882T>A (p.Leu961Gln)
n.3138T>A
c.293T>A (p.Leu98Gln)
c.9797T>A (p.Leu3266Gln)
c.9731T>A (p.Leu3244Gln)
c.9794T>A (p.Leu3265Gln)
c.9791T>A (p.Leu3264Gln)
c.9737T>A (p.Leu3246Gln)
c.9707T>A (p.Leu3236Gln)
c.9662T>A (p.Leu3221Gln)
c.9257T>A (p.Leu3086Gln)
c.8615T>A (p.Leu2872Gln)
c.6125T>A (p.Leu2042Gln)
10g.71812859T>CCA377137123CDH23c.9602T>C (p.Leu3201Pro)
c.3535T>C (n.3535T>C)
c.3199T>C (n.3199T>C)
c.9617T>C (p.Leu3206Pro)
c.2882T>C (p.Leu961Pro)
n.3138T>C
c.293T>C (p.Leu98Pro)
c.9797T>C (p.Leu3266Pro)
c.9731T>C (p.Leu3244Pro)
c.9794T>C (p.Leu3265Pro)
c.9791T>C (p.Leu3264Pro)
c.9737T>C (p.Leu3246Pro)
c.9707T>C (p.Leu3236Pro)
c.9662T>C (p.Leu3221Pro)
c.9257T>C (p.Leu3086Pro)
c.8615T>C (p.Leu2872Pro)
c.6125T>C (p.Leu2042Pro)
10g.71812859T>GCA377137124CDH23c.9602T>G (p.Leu3201Arg)
c.3535T>G (n.3535T>G)
c.3199T>G (n.3199T>G)
c.9617T>G (p.Leu3206Arg)
c.2882T>G (p.Leu961Arg)
n.3138T>G
c.293T>G (p.Leu98Arg)
c.9797T>G (p.Leu3266Arg)
c.9731T>G (p.Leu3244Arg)
c.9794T>G (p.Leu3265Arg)
c.9791T>G (p.Leu3264Arg)
c.9737T>G (p.Leu3246Arg)
c.9707T>G (p.Leu3236Arg)
c.9662T>G (p.Leu3221Arg)
c.9257T>G (p.Leu3086Arg)
c.8615T>G (p.Leu2872Arg)
c.6125T>G (p.Leu2042Arg)
10g.71812860G>ACA209444677CDH23c.9603G>A (p.Leu3201=)
c.3536G>A (n.3536G>A)
c.3200G>A (n.3200G>A)
c.9618G>A (p.Leu3206=)
c.2883G>A (p.Leu961=)
n.3139G>A
c.294G>A (p.Leu98=)
c.9798G>A (p.Leu3266=)
c.9732G>A (p.Leu3244=)
c.9795G>A (p.Leu3265=)
c.9792G>A (p.Leu3264=)
c.9738G>A (p.Leu3246=)
c.9708G>A (p.Leu3236=)
c.9663G>A (p.Leu3221=)
c.9258G>A (p.Leu3086=)
c.8616G>A (p.Leu2872=)
c.6126G>A (p.Leu2042=)
 ClinVar dbSNP gnomAD v4 COSMIC
10g.71812860G>CCA470282943CDH23c.9603G>C (p.Leu3201=)
c.3536G>C (n.3536G>C)
c.3200G>C (n.3200G>C)
c.9618G>C (p.Leu3206=)
c.2883G>C (p.Leu961=)
n.3139G>C
c.294G>C (p.Leu98=)
c.9798G>C (p.Leu3266=)
c.9732G>C (p.Leu3244=)
c.9795G>C (p.Leu3265=)
c.9792G>C (p.Leu3264=)
c.9738G>C (p.Leu3246=)
c.9708G>C (p.Leu3236=)
c.9663G>C (p.Leu3221=)
c.9258G>C (p.Leu3086=)
c.8616G>C (p.Leu2872=)
c.6126G>C (p.Leu2042=)
10g.71812860G=CA1918892794CDH23c.9603G= (p.Leu3201=)
c.3536G= (n.3536G=)
c.3200G= (n.3200G=)
c.9618G= (p.Leu3206=)
c.2883G= (p.Leu961=)
n.3139G=
c.294G= (p.Leu98=)
c.9798G= (p.Leu3266=)
c.9732G= (p.Leu3244=)
c.9795G= (p.Leu3265=)
c.9792G= (p.Leu3264=)
c.9738G= (p.Leu3246=)
c.9708G= (p.Leu3236=)
c.9663G= (p.Leu3221=)
c.9258G= (p.Leu3086=)
c.8616G= (p.Leu2872=)
c.6126G= (p.Leu2042=)
10g.71812860G>TCA470282945CDH23c.9603G>T (p.Leu3201=)
c.3536G>T (n.3536G>T)
c.3200G>T (n.3200G>T)
c.9618G>T (p.Leu3206=)
c.2883G>T (p.Leu961=)
n.3139G>T
c.294G>T (p.Leu98=)
c.9798G>T (p.Leu3266=)
c.9732G>T (p.Leu3244=)
c.9795G>T (p.Leu3265=)
c.9792G>T (p.Leu3264=)
c.9738G>T (p.Leu3246=)
c.9708G>T (p.Leu3236=)
c.9663G>T (p.Leu3221=)
c.9258G>T (p.Leu3086=)
c.8616G>T (p.Leu2872=)
c.6126G>T (p.Leu2042=)
10g.71812861G>ACA377137125CDH23c.9604G>A (p.Gly3202Ser)
c.3537G>A (n.3537G>A)
c.3201G>A (n.3201G>A)
c.9619G>A (p.Gly3207Ser)
c.2884G>A (p.Gly962Ser)
n.3140G>A
c.295G>A (p.Gly99Ser)
c.9799G>A (p.Gly3267Ser)
c.9733G>A (p.Gly3245Ser)
c.9796G>A (p.Gly3266Ser)
c.9793G>A (p.Gly3265Ser)
c.9739G>A (p.Gly3247Ser)
c.9709G>A (p.Gly3237Ser)
c.9664G>A (p.Gly3222Ser)
c.9259G>A (p.Gly3087Ser)
c.8617G>A (p.Gly2873Ser)
c.6127G>A (p.Gly2043Ser)
 ClinVar dbSNP gnomAD v4
10g.71812861G>CCA377137126CDH23c.9604G>C (p.Gly3202Arg)
c.3537G>C (n.3537G>C)
c.3201G>C (n.3201G>C)
c.9619G>C (p.Gly3207Arg)
c.2884G>C (p.Gly962Arg)
n.3140G>C
c.295G>C (p.Gly99Arg)
c.9799G>C (p.Gly3267Arg)
c.9733G>C (p.Gly3245Arg)
c.9796G>C (p.Gly3266Arg)
c.9793G>C (p.Gly3265Arg)
c.9739G>C (p.Gly3247Arg)
c.9709G>C (p.Gly3237Arg)
c.9664G>C (p.Gly3222Arg)
c.9259G>C (p.Gly3087Arg)
c.8617G>C (p.Gly2873Arg)
c.6127G>C (p.Gly2043Arg)
10g.71812861G>TCA377137127CDH23c.9604G>T (p.Gly3202Cys)
c.3537G>T (n.3537G>T)
c.3201G>T (n.3201G>T)
c.9619G>T (p.Gly3207Cys)
c.2884G>T (p.Gly962Cys)
n.3140G>T
c.295G>T (p.Gly99Cys)
c.9799G>T (p.Gly3267Cys)
c.9733G>T (p.Gly3245Cys)
c.9796G>T (p.Gly3266Cys)
c.9793G>T (p.Gly3265Cys)
c.9739G>T (p.Gly3247Cys)
c.9709G>T (p.Gly3237Cys)
c.9664G>T (p.Gly3222Cys)
c.9259G>T (p.Gly3087Cys)
c.8617G>T (p.Gly2873Cys)
c.6127G>T (p.Gly2043Cys)
10g.71812862G>ACA377137130CDH23c.9605G>A (p.Gly3202Asp)
c.3538G>A (n.3538G>A)
c.3202G>A (n.3202G>A)
c.9620G>A (p.Gly3207Asp)
c.2885G>A (p.Gly962Asp)
n.3141G>A
c.296G>A (p.Gly99Asp)
c.9800G>A (p.Gly3267Asp)
c.9734G>A (p.Gly3245Asp)
c.9797G>A (p.Gly3266Asp)
c.9794G>A (p.Gly3265Asp)
c.9740G>A (p.Gly3247Asp)
c.9710G>A (p.Gly3237Asp)
c.9665G>A (p.Gly3222Asp)
c.9260G>A (p.Gly3087Asp)
c.8618G>A (p.Gly2873Asp)
c.6128G>A (p.Gly2043Asp)
 dbSNP gnomAD v2 gnomAD v4
10g.71812862G>CCA377137128CDH23c.9605G>C (p.Gly3202Ala)
c.3538G>C (n.3538G>C)
c.3202G>C (n.3202G>C)
c.9620G>C (p.Gly3207Ala)
c.2885G>C (p.Gly962Ala)
n.3141G>C
c.296G>C (p.Gly99Ala)
c.9800G>C (p.Gly3267Ala)
c.9734G>C (p.Gly3245Ala)
c.9797G>C (p.Gly3266Ala)
c.9794G>C (p.Gly3265Ala)
c.9740G>C (p.Gly3247Ala)
c.9710G>C (p.Gly3237Ala)
c.9665G>C (p.Gly3222Ala)
c.9260G>C (p.Gly3087Ala)
c.8618G>C (p.Gly2873Ala)
c.6128G>C (p.Gly2043Ala)
10g.71812862G=CA1918892800CDH23c.9605G= (p.Gly3202=)
c.3538G= (n.3538G=)
c.3202G= (n.3202G=)
c.9620G= (p.Gly3207=)
c.2885G= (p.Gly962=)
n.3141G=
c.296G= (p.Gly99=)
c.9800G= (p.Gly3267=)
c.9734G= (p.Gly3245=)
c.9797G= (p.Gly3266=)
c.9794G= (p.Gly3265=)
c.9740G= (p.Gly3247=)
c.9710G= (p.Gly3237=)
c.9665G= (p.Gly3222=)
c.9260G= (p.Gly3087=)
c.8618G= (p.Gly2873=)
c.6128G= (p.Gly2043=)
10g.71812862G>TCA377137129CDH23c.9605G>T (p.Gly3202Val)
c.3538G>T (n.3538G>T)
c.3202G>T (n.3202G>T)
c.9620G>T (p.Gly3207Val)
c.2885G>T (p.Gly962Val)
n.3141G>T
c.296G>T (p.Gly99Val)
c.9800G>T (p.Gly3267Val)
c.9734G>T (p.Gly3245Val)
c.9797G>T (p.Gly3266Val)
c.9794G>T (p.Gly3265Val)
c.9740G>T (p.Gly3247Val)
c.9710G>T (p.Gly3237Val)
c.9665G>T (p.Gly3222Val)
c.9260G>T (p.Gly3087Val)
c.8618G>T (p.Gly2873Val)
c.6128G>T (p.Gly2043Val)
10g.71812863C>ACA5547133CDH23c.9606C>A (p.Gly3202=)
c.3539C>A (n.3539C>A)
c.3203C>A (n.3203C>A)
c.9621C>A (p.Gly3207=)
c.2886C>A (p.Gly962=)
n.3142C>A
c.297C>A (p.Gly99=)
c.9801C>A (p.Gly3267=)
c.9735C>A (p.Gly3245=)
c.9798C>A (p.Gly3266=)
c.9795C>A (p.Gly3265=)
c.9741C>A (p.Gly3247=)
c.9711C>A (p.Gly3237=)
c.9666C>A (p.Gly3222=)
c.9261C>A (p.Gly3087=)
c.8619C>A (p.Gly2873=)
c.6129C>A (p.Gly2043=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71812863C=CA1918892807CDH23c.9606C= (p.Gly3202=)
c.3539C= (n.3539C=)
c.3203C= (n.3203C=)
c.9621C= (p.Gly3207=)
c.2886C= (p.Gly962=)
n.3142C=
c.297C= (p.Gly99=)
c.9801C= (p.Gly3267=)
c.9735C= (p.Gly3245=)
c.9798C= (p.Gly3266=)
c.9795C= (p.Gly3265=)
c.9741C= (p.Gly3247=)
c.9711C= (p.Gly3237=)
c.9666C= (p.Gly3222=)
c.9261C= (p.Gly3087=)
c.8619C= (p.Gly2873=)
c.6129C= (p.Gly2043=)
10g.71812863C>GCA470282950CDH23c.9606C>G (p.Gly3202=)
c.3539C>G (n.3539C>G)
c.3203C>G (n.3203C>G)
c.9621C>G (p.Gly3207=)
c.2886C>G (p.Gly962=)
n.3142C>G
c.297C>G (p.Gly99=)
c.9801C>G (p.Gly3267=)
c.9735C>G (p.Gly3245=)
c.9798C>G (p.Gly3266=)
c.9795C>G (p.Gly3265=)
c.9741C>G (p.Gly3247=)
c.9711C>G (p.Gly3237=)
c.9666C>G (p.Gly3222=)
c.9261C>G (p.Gly3087=)
c.8619C>G (p.Gly2873=)
c.6129C>G (p.Gly2043=)
10g.71812863C>TCA470282951CDH23c.9606C>T (p.Gly3202=)
c.3539C>T (n.3539C>T)
c.3203C>T (n.3203C>T)
c.9621C>T (p.Gly3207=)
c.2886C>T (p.Gly962=)
n.3142C>T
c.297C>T (p.Gly99=)
c.9801C>T (p.Gly3267=)
c.9735C>T (p.Gly3245=)
c.9798C>T (p.Gly3266=)
c.9795C>T (p.Gly3265=)
c.9741C>T (p.Gly3247=)
c.9711C>T (p.Gly3237=)
c.9666C>T (p.Gly3222=)
c.9261C>T (p.Gly3087=)
c.8619C>T (p.Gly2873=)
c.6129C>T (p.Gly2043=)
10g.71812864C>ACA377137132CDH23c.9607C>A (p.Gln3203Lys)
c.3540C>A (n.3540C>A)
c.3204C>A (n.3204C>A)
c.9622C>A (p.Gln3208Lys)
c.2887C>A (p.Gln963Lys)
n.3143C>A
c.298C>A (p.Gln100Lys)
c.9802C>A (p.Gln3268Lys)
c.9736C>A (p.Gln3246Lys)
c.9799C>A (p.Gln3267Lys)
c.9796C>A (p.Gln3266Lys)
c.9742C>A (p.Gln3248Lys)
c.9712C>A (p.Gln3238Lys)
c.9667C>A (p.Gln3223Lys)
c.9262C>A (p.Gln3088Lys)
c.8620C>A (p.Gln2874Lys)
c.6130C>A (p.Gln2044Lys)
10g.71812864C>GCA377137131CDH23c.9607C>G (p.Gln3203Glu)
c.3540C>G (n.3540C>G)
c.3204C>G (n.3204C>G)
c.9622C>G (p.Gln3208Glu)
c.2887C>G (p.Gln963Glu)
n.3143C>G
c.298C>G (p.Gln100Glu)
c.9802C>G (p.Gln3268Glu)
c.9736C>G (p.Gln3246Glu)
c.9799C>G (p.Gln3267Glu)
c.9796C>G (p.Gln3266Glu)
c.9742C>G (p.Gln3248Glu)
c.9712C>G (p.Gln3238Glu)
c.9667C>G (p.Gln3223Glu)
c.9262C>G (p.Gln3088Glu)
c.8620C>G (p.Gln2874Glu)
c.6130C>G (p.Gln2044Glu)
10g.71812864C>TCA377137133CDH23c.9607C>T (p.Gln3203Ter)
c.3540C>T (n.3540C>T)
c.3204C>T (n.3204C>T)
c.9622C>T (p.Gln3208Ter)
c.2887C>T (p.Gln963Ter)
n.3143C>T
c.298C>T (p.Gln100Ter)
c.9802C>T (p.Gln3268Ter)
c.9736C>T (p.Gln3246Ter)
c.9799C>T (p.Gln3267Ter)
c.9796C>T (p.Gln3266Ter)
c.9742C>T (p.Gln3248Ter)
c.9712C>T (p.Gln3238Ter)
c.9667C>T (p.Gln3223Ter)
c.9262C>T (p.Gln3088Ter)
c.8620C>T (p.Gln2874Ter)
c.6130C>T (p.Gln2044Ter)
10g.71812865A>CCA377137134CDH23c.9608A>C (p.Gln3203Pro)
c.3541A>C (n.3541A>C)
c.3205A>C (n.3205A>C)
c.9623A>C (p.Gln3208Pro)
c.2888A>C (p.Gln963Pro)
n.3144A>C
c.299A>C (p.Gln100Pro)
c.9803A>C (p.Gln3268Pro)
c.9737A>C (p.Gln3246Pro)
c.9800A>C (p.Gln3267Pro)
c.9797A>C (p.Gln3266Pro)
c.9743A>C (p.Gln3248Pro)
c.9713A>C (p.Gln3238Pro)
c.9668A>C (p.Gln3223Pro)
c.9263A>C (p.Gln3088Pro)
c.8621A>C (p.Gln2874Pro)
c.6131A>C (p.Gln2044Pro)
10g.71812865A>GCA377137135CDH23c.9608A>G (p.Gln3203Arg)
c.3541A>G (n.3541A>G)
c.3205A>G (n.3205A>G)
c.9623A>G (p.Gln3208Arg)
c.2888A>G (p.Gln963Arg)
n.3144A>G
c.299A>G (p.Gln100Arg)
c.9803A>G (p.Gln3268Arg)
c.9737A>G (p.Gln3246Arg)
c.9800A>G (p.Gln3267Arg)
c.9797A>G (p.Gln3266Arg)
c.9743A>G (p.Gln3248Arg)
c.9713A>G (p.Gln3238Arg)
c.9668A>G (p.Gln3223Arg)
c.9263A>G (p.Gln3088Arg)
c.8621A>G (p.Gln2874Arg)
c.6131A>G (p.Gln2044Arg)
10g.71812865A>TCA377137136CDH23c.9608A>T (p.Gln3203Leu)
c.3541A>T (n.3541A>T)
c.3205A>T (n.3205A>T)
c.9623A>T (p.Gln3208Leu)
c.2888A>T (p.Gln963Leu)
n.3144A>T
c.299A>T (p.Gln100Leu)
c.9803A>T (p.Gln3268Leu)
c.9737A>T (p.Gln3246Leu)
c.9800A>T (p.Gln3267Leu)
c.9797A>T (p.Gln3266Leu)
c.9743A>T (p.Gln3248Leu)
c.9713A>T (p.Gln3238Leu)
c.9668A>T (p.Gln3223Leu)
c.9263A>T (p.Gln3088Leu)
c.8621A>T (p.Gln2874Leu)
c.6131A>T (p.Gln2044Leu)
10g.71812866G>ACA470282956CDH23c.9609G>A (p.Gln3203=)
c.3542G>A (n.3542G>A)
c.3206G>A (n.3206G>A)
c.9624G>A (p.Gln3208=)
c.2889G>A (p.Gln963=)
n.3145G>A
c.300G>A (p.Gln100=)
c.9804G>A (p.Gln3268=)
c.9738G>A (p.Gln3246=)
c.9801G>A (p.Gln3267=)
c.9798G>A (p.Gln3266=)
c.9744G>A (p.Gln3248=)
c.9714G>A (p.Gln3238=)
c.9669G>A (p.Gln3223=)
c.9264G>A (p.Gln3088=)
c.8622G>A (p.Gln2874=)
c.6132G>A (p.Gln2044=)
 ClinVar dbSNP gnomAD v4
10g.71812866G>CCA377137137CDH23c.9609G>C (p.Gln3203His)
c.3542G>C (n.3542G>C)
c.3206G>C (n.3206G>C)
c.9624G>C (p.Gln3208His)
c.2889G>C (p.Gln963His)
n.3145G>C
c.300G>C (p.Gln100His)
c.9804G>C (p.Gln3268His)
c.9738G>C (p.Gln3246His)
c.9801G>C (p.Gln3267His)
c.9798G>C (p.Gln3266His)
c.9744G>C (p.Gln3248His)
c.9714G>C (p.Gln3238His)
c.9669G>C (p.Gln3223His)
c.9264G>C (p.Gln3088His)
c.8622G>C (p.Gln2874His)
c.6132G>C (p.Gln2044His)
10g.71812866G>TCA377137138CDH23c.9609G>T (p.Gln3203His)
c.3542G>T (n.3542G>T)
c.3206G>T (n.3206G>T)
c.9624G>T (p.Gln3208His)
c.2889G>T (p.Gln963His)
n.3145G>T
c.300G>T (p.Gln100His)
c.9804G>T (p.Gln3268His)
c.9738G>T (p.Gln3246His)
c.9801G>T (p.Gln3267His)
c.9798G>T (p.Gln3266His)
c.9744G>T (p.Gln3248His)
c.9714G>T (p.Gln3238His)
c.9669G>T (p.Gln3223His)
c.9264G>T (p.Gln3088His)
c.8622G>T (p.Gln2874His)
c.6132G>T (p.Gln2044His)
10g.71812867A=CA1918892812CDH23c.9610A= (p.Ile3204=)
c.3543A= (n.3543A=)
c.3207A= (n.3207A=)
c.9625A= (p.Ile3209=)
c.2890A= (p.Ile964=)
n.3146A=
c.301A= (p.Ile101=)
c.9805A= (p.Ile3269=)
c.9739A= (p.Ile3247=)
c.9802A= (p.Ile3268=)
c.9799A= (p.Ile3267=)
c.9745A= (p.Ile3249=)
c.9715A= (p.Ile3239=)
c.9670A= (p.Ile3224=)
c.9265A= (p.Ile3089=)
c.8623A= (p.Ile2875=)
c.6133A= (p.Ile2045=)
10g.71812867A>CCA5547134CDH23c.9610A>C (p.Ile3204Leu)
c.3543A>C (n.3543A>C)
c.3207A>C (n.3207A>C)
c.9625A>C (p.Ile3209Leu)
c.2890A>C (p.Ile964Leu)
n.3146A>C
c.301A>C (p.Ile101Leu)
c.9805A>C (p.Ile3269Leu)
c.9739A>C (p.Ile3247Leu)
c.9802A>C (p.Ile3268Leu)
c.9799A>C (p.Ile3267Leu)
c.9745A>C (p.Ile3249Leu)
c.9715A>C (p.Ile3239Leu)
c.9670A>C (p.Ile3224Leu)
c.9265A>C (p.Ile3089Leu)
c.8623A>C (p.Ile2875Leu)
c.6133A>C (p.Ile2045Leu)
 dbSNP ExAC gnomAD v2
10g.71812867A>GCA377137139CDH23c.9610A>G (p.Ile3204Val)
c.3543A>G (n.3543A>G)
c.3207A>G (n.3207A>G)
c.9625A>G (p.Ile3209Val)
c.2890A>G (p.Ile964Val)
n.3146A>G
c.301A>G (p.Ile101Val)
c.9805A>G (p.Ile3269Val)
c.9739A>G (p.Ile3247Val)
c.9802A>G (p.Ile3268Val)
c.9799A>G (p.Ile3267Val)
c.9745A>G (p.Ile3249Val)
c.9715A>G (p.Ile3239Val)
c.9670A>G (p.Ile3224Val)
c.9265A>G (p.Ile3089Val)
c.8623A>G (p.Ile2875Val)
c.6133A>G (p.Ile2045Val)
10g.71812867A>TCA377137140CDH23c.9610A>T (p.Ile3204Phe)
c.3543A>T (n.3543A>T)
c.3207A>T (n.3207A>T)
c.9625A>T (p.Ile3209Phe)
c.2890A>T (p.Ile964Phe)
n.3146A>T
c.301A>T (p.Ile101Phe)
c.9805A>T (p.Ile3269Phe)
c.9739A>T (p.Ile3247Phe)
c.9802A>T (p.Ile3268Phe)
c.9799A>T (p.Ile3267Phe)
c.9745A>T (p.Ile3249Phe)
c.9715A>T (p.Ile3239Phe)
c.9670A>T (p.Ile3224Phe)
c.9265A>T (p.Ile3089Phe)
c.8623A>T (p.Ile2875Phe)
c.6133A>T (p.Ile2045Phe)
10g.71812868T>ACA377137141CDH23c.9611T>A (p.Ile3204Asn)
c.3544T>A (n.3544T>A)
c.3208T>A (n.3208T>A)
c.9626T>A (p.Ile3209Asn)
c.2891T>A (p.Ile964Asn)
n.3147T>A
c.302T>A (p.Ile101Asn)
c.9806T>A (p.Ile3269Asn)
c.9740T>A (p.Ile3247Asn)
c.9803T>A (p.Ile3268Asn)
c.9800T>A (p.Ile3267Asn)
c.9746T>A (p.Ile3249Asn)
c.9716T>A (p.Ile3239Asn)
c.9671T>A (p.Ile3224Asn)
c.9266T>A (p.Ile3089Asn)
c.8624T>A (p.Ile2875Asn)
c.6134T>A (p.Ile2045Asn)
10g.71812868T>CCA377137142CDH23c.9611T>C (p.Ile3204Thr)
c.3544T>C (n.3544T>C)
c.3208T>C (n.3208T>C)
c.9626T>C (p.Ile3209Thr)
c.2891T>C (p.Ile964Thr)
n.3147T>C
c.302T>C (p.Ile101Thr)
c.9806T>C (p.Ile3269Thr)
c.9740T>C (p.Ile3247Thr)
c.9803T>C (p.Ile3268Thr)
c.9800T>C (p.Ile3267Thr)
c.9746T>C (p.Ile3249Thr)
c.9716T>C (p.Ile3239Thr)
c.9671T>C (p.Ile3224Thr)
c.9266T>C (p.Ile3089Thr)
c.8624T>C (p.Ile2875Thr)
c.6134T>C (p.Ile2045Thr)
10g.71812868T>GCA377137143CDH23c.9611T>G (p.Ile3204Ser)
c.3544T>G (n.3544T>G)
c.3208T>G (n.3208T>G)
c.9626T>G (p.Ile3209Ser)
c.2891T>G (p.Ile964Ser)
n.3147T>G
c.302T>G (p.Ile101Ser)
c.9806T>G (p.Ile3269Ser)
c.9740T>G (p.Ile3247Ser)
c.9803T>G (p.Ile3268Ser)
c.9800T>G (p.Ile3267Ser)
c.9746T>G (p.Ile3249Ser)
c.9716T>G (p.Ile3239Ser)
c.9671T>G (p.Ile3224Ser)
c.9266T>G (p.Ile3089Ser)
c.8624T>G (p.Ile2875Ser)
c.6134T>G (p.Ile2045Ser)
10g.71812869C>ACA470282959CDH23c.9612C>A (p.Ile3204=)
c.3545C>A (n.3545C>A)
c.3209C>A (n.3209C>A)
c.9627C>A (p.Ile3209=)
c.2892C>A (p.Ile964=)
n.3148C>A
c.303C>A (p.Ile101=)
c.9807C>A (p.Ile3269=)
c.9741C>A (p.Ile3247=)
c.9804C>A (p.Ile3268=)
c.9801C>A (p.Ile3267=)
c.9747C>A (p.Ile3249=)
c.9717C>A (p.Ile3239=)
c.9672C>A (p.Ile3224=)
c.9267C>A (p.Ile3089=)
c.8625C>A (p.Ile2875=)
c.6135C>A (p.Ile2045=)
 gnomAD v4
10g.71812869C>GCA377137144CDH23c.9612C>G (p.Ile3204Met)
c.3545C>G (n.3545C>G)
c.3209C>G (n.3209C>G)
c.9627C>G (p.Ile3209Met)
c.2892C>G (p.Ile964Met)
n.3148C>G
c.303C>G (p.Ile101Met)
c.9807C>G (p.Ile3269Met)
c.9741C>G (p.Ile3247Met)
c.9804C>G (p.Ile3268Met)
c.9801C>G (p.Ile3267Met)
c.9747C>G (p.Ile3249Met)
c.9717C>G (p.Ile3239Met)
c.9672C>G (p.Ile3224Met)
c.9267C>G (p.Ile3089Met)
c.8625C>G (p.Ile2875Met)
c.6135C>G (p.Ile2045Met)
10g.71812869C>TCA470282960CDH23c.9612C>T (p.Ile3204=)
c.3545C>T (n.3545C>T)
c.3209C>T (n.3209C>T)
c.9627C>T (p.Ile3209=)
c.2892C>T (p.Ile964=)
n.3148C>T
c.303C>T (p.Ile101=)
c.9807C>T (p.Ile3269=)
c.9741C>T (p.Ile3247=)
c.9804C>T (p.Ile3268=)
c.9801C>T (p.Ile3267=)
c.9747C>T (p.Ile3249=)
c.9717C>T (p.Ile3239=)
c.9672C>T (p.Ile3224=)
c.9267C>T (p.Ile3089=)
c.8625C>T (p.Ile2875=)
c.6135C>T (p.Ile2045=)
10g.71812870A>CCA377137145CDH23c.9613A>C (p.Ile3205Leu)
c.3546A>C (n.3546A>C)
c.3210A>C (n.3210A>C)
c.9628A>C (p.Ile3210Leu)
c.2893A>C (p.Ile965Leu)
n.3149A>C
c.304A>C (p.Ile102Leu)
c.9808A>C (p.Ile3270Leu)
c.9742A>C (p.Ile3248Leu)
c.9805A>C (p.Ile3269Leu)
c.9802A>C (p.Ile3268Leu)
c.9748A>C (p.Ile3250Leu)
c.9718A>C (p.Ile3240Leu)
c.9673A>C (p.Ile3225Leu)
c.9268A>C (p.Ile3090Leu)
c.8626A>C (p.Ile2876Leu)
c.6136A>C (p.Ile2046Leu)
10g.71812870A>GCA377137147CDH23c.9613A>G (p.Ile3205Val)
c.3546A>G (n.3546A>G)
c.3210A>G (n.3210A>G)
c.9628A>G (p.Ile3210Val)
c.2893A>G (p.Ile965Val)
n.3149A>G
c.304A>G (p.Ile102Val)
c.9808A>G (p.Ile3270Val)
c.9742A>G (p.Ile3248Val)
c.9805A>G (p.Ile3269Val)
c.9802A>G (p.Ile3268Val)
c.9748A>G (p.Ile3250Val)
c.9718A>G (p.Ile3240Val)
c.9673A>G (p.Ile3225Val)
c.9268A>G (p.Ile3090Val)
c.8626A>G (p.Ile2876Val)
c.6136A>G (p.Ile2046Val)
10g.71812870A>TCA377137146CDH23c.9613A>T (p.Ile3205Phe)
c.3546A>T (n.3546A>T)
c.3210A>T (n.3210A>T)
c.9628A>T (p.Ile3210Phe)
c.2893A>T (p.Ile965Phe)
n.3149A>T
c.304A>T (p.Ile102Phe)
c.9808A>T (p.Ile3270Phe)
c.9742A>T (p.Ile3248Phe)
c.9805A>T (p.Ile3269Phe)
c.9802A>T (p.Ile3268Phe)
c.9748A>T (p.Ile3250Phe)
c.9718A>T (p.Ile3240Phe)
c.9673A>T (p.Ile3225Phe)
c.9268A>T (p.Ile3090Phe)
c.8626A>T (p.Ile2876Phe)
c.6136A>T (p.Ile2046Phe)
10g.71812871T>ACA377137148CDH23c.9614T>A (p.Ile3205Asn)
c.3547T>A (n.3547T>A)
c.3211T>A (n.3211T>A)
c.9629T>A (p.Ile3210Asn)
c.2894T>A (p.Ile965Asn)
n.3150T>A
c.305T>A (p.Ile102Asn)
c.9809T>A (p.Ile3270Asn)
c.9743T>A (p.Ile3248Asn)
c.9806T>A (p.Ile3269Asn)
c.9803T>A (p.Ile3268Asn)
c.9749T>A (p.Ile3250Asn)
c.9719T>A (p.Ile3240Asn)
c.9674T>A (p.Ile3225Asn)
c.9269T>A (p.Ile3090Asn)
c.8627T>A (p.Ile2876Asn)
c.6137T>A (p.Ile2046Asn)
10g.71812871T>CCA377137149CDH23c.9614T>C (p.Ile3205Thr)
c.3547T>C (n.3547T>C)
c.3211T>C (n.3211T>C)
c.9629T>C (p.Ile3210Thr)
c.2894T>C (p.Ile965Thr)
n.3150T>C
c.305T>C (p.Ile102Thr)
c.9809T>C (p.Ile3270Thr)
c.9743T>C (p.Ile3248Thr)
c.9806T>C (p.Ile3269Thr)
c.9803T>C (p.Ile3268Thr)
c.9749T>C (p.Ile3250Thr)
c.9719T>C (p.Ile3240Thr)
c.9674T>C (p.Ile3225Thr)
c.9269T>C (p.Ile3090Thr)
c.8627T>C (p.Ile2876Thr)
c.6137T>C (p.Ile2046Thr)
10g.71812871T>GCA377137150CDH23c.9614T>G (p.Ile3205Ser)
c.3547T>G (n.3547T>G)
c.3211T>G (n.3211T>G)
c.9629T>G (p.Ile3210Ser)
c.2894T>G (p.Ile965Ser)
n.3150T>G
c.305T>G (p.Ile102Ser)
c.9809T>G (p.Ile3270Ser)
c.9743T>G (p.Ile3248Ser)
c.9806T>G (p.Ile3269Ser)
c.9803T>G (p.Ile3268Ser)
c.9749T>G (p.Ile3250Ser)
c.9719T>G (p.Ile3240Ser)
c.9674T>G (p.Ile3225Ser)
c.9269T>G (p.Ile3090Ser)
c.8627T>G (p.Ile2876Ser)
c.6137T>G (p.Ile2046Ser)
10g.71812872T>ACA470282966CDH23c.9615T>A (p.Ile3205=)
c.3548T>A (n.3548T>A)
c.3212T>A (n.3212T>A)
c.9630T>A (p.Ile3210=)
c.2895T>A (p.Ile965=)
n.3151T>A
c.306T>A (p.Ile102=)
c.9810T>A (p.Ile3270=)
c.9744T>A (p.Ile3248=)
c.9807T>A (p.Ile3269=)
c.9804T>A (p.Ile3268=)
c.9750T>A (p.Ile3250=)
c.9720T>A (p.Ile3240=)
c.9675T>A (p.Ile3225=)
c.9270T>A (p.Ile3090=)
c.8628T>A (p.Ile2876=)
c.6138T>A (p.Ile2046=)
 ClinVar
10g.71812872T>CCA470282967CDH23c.9615T>C (p.Ile3205=)
c.3548T>C (n.3548T>C)
c.3212T>C (n.3212T>C)
c.9630T>C (p.Ile3210=)
c.2895T>C (p.Ile965=)
n.3151T>C
c.306T>C (p.Ile102=)
c.9810T>C (p.Ile3270=)
c.9744T>C (p.Ile3248=)
c.9807T>C (p.Ile3269=)
c.9804T>C (p.Ile3268=)
c.9750T>C (p.Ile3250=)
c.9720T>C (p.Ile3240=)
c.9675T>C (p.Ile3225=)
c.9270T>C (p.Ile3090=)
c.8628T>C (p.Ile2876=)
c.6138T>C (p.Ile2046=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71812872T>GCA377137151CDH23c.9615T>G (p.Ile3205Met)
c.3548T>G (n.3548T>G)
c.3212T>G (n.3212T>G)
c.9630T>G (p.Ile3210Met)
c.2895T>G (p.Ile965Met)
n.3151T>G
c.306T>G (p.Ile102Met)
c.9810T>G (p.Ile3270Met)
c.9744T>G (p.Ile3248Met)
c.9807T>G (p.Ile3269Met)
c.9804T>G (p.Ile3268Met)
c.9750T>G (p.Ile3250Met)
c.9720T>G (p.Ile3240Met)
c.9675T>G (p.Ile3225Met)
c.9270T>G (p.Ile3090Met)
c.8628T>G (p.Ile2876Met)
c.6138T>G (p.Ile2046Met)
10g.71812872T=CA1918892818CDH23c.9615T= (p.Ile3205=)
c.3548T= (n.3548T=)
c.3212T= (n.3212T=)
c.9630T= (p.Ile3210=)
c.2895T= (p.Ile965=)
n.3151T=
c.306T= (p.Ile102=)
c.9810T= (p.Ile3270=)
c.9744T= (p.Ile3248=)
c.9807T= (p.Ile3269=)
c.9804T= (p.Ile3268=)
c.9750T= (p.Ile3250=)
c.9720T= (p.Ile3240=)
c.9675T= (p.Ile3225=)
c.9270T= (p.Ile3090=)
c.8628T= (p.Ile2876=)
c.6138T= (p.Ile2046=)
10g.71812873C>ACA377137152CDH23c.9616C>A (p.Arg3206Ser)
c.3549C>A (n.3549C>A)
c.3213C>A (n.3213C>A)
c.9631C>A (p.Arg3211Ser)
c.2896C>A (p.Arg966Ser)
n.3152C>A
c.307C>A (p.Arg103Ser)
c.9811C>A (p.Arg3271Ser)
c.9745C>A (p.Arg3249Ser)
c.9808C>A (p.Arg3270Ser)
c.9805C>A (p.Arg3269Ser)
c.9751C>A (p.Arg3251Ser)
c.9721C>A (p.Arg3241Ser)
c.9676C>A (p.Arg3226Ser)
c.9271C>A (p.Arg3091Ser)
c.8629C>A (p.Arg2877Ser)
c.6139C>A (p.Arg2047Ser)
 dbSNP gnomAD v4
10g.71812873C=CA1918892827CDH23c.9616C= (p.Arg3206=)
c.3549C= (n.3549C=)
c.3213C= (n.3213C=)
c.9631C= (p.Arg3211=)
c.2896C= (p.Arg966=)
n.3152C=
c.307C= (p.Arg103=)
c.9811C= (p.Arg3271=)
c.9745C= (p.Arg3249=)
c.9808C= (p.Arg3270=)
c.9805C= (p.Arg3269=)
c.9751C= (p.Arg3251=)
c.9721C= (p.Arg3241=)
c.9676C= (p.Arg3226=)
c.9271C= (p.Arg3091=)
c.8629C= (p.Arg2877=)
c.6139C= (p.Arg2047=)
10g.71812873C>GCA377137153CDH23c.9616C>G (p.Arg3206Gly)
c.3549C>G (n.3549C>G)
c.3213C>G (n.3213C>G)
c.9631C>G (p.Arg3211Gly)
c.2896C>G (p.Arg966Gly)
n.3152C>G
c.307C>G (p.Arg103Gly)
c.9811C>G (p.Arg3271Gly)
c.9745C>G (p.Arg3249Gly)
c.9808C>G (p.Arg3270Gly)
c.9805C>G (p.Arg3269Gly)
c.9751C>G (p.Arg3251Gly)
c.9721C>G (p.Arg3241Gly)
c.9676C>G (p.Arg3226Gly)
c.9271C>G (p.Arg3091Gly)
c.8629C>G (p.Arg2877Gly)
c.6139C>G (p.Arg2047Gly)
 dbSNP
10g.71812873C>TCA5547135CDH23c.9616C>T (p.Arg3206Cys)
c.3549C>T (n.3549C>T)
c.3213C>T (n.3213C>T)
c.9631C>T (p.Arg3211Cys)
c.2896C>T (p.Arg966Cys)
n.3152C>T
c.307C>T (p.Arg103Cys)
c.9811C>T (p.Arg3271Cys)
c.9745C>T (p.Arg3249Cys)
c.9808C>T (p.Arg3270Cys)
c.9805C>T (p.Arg3269Cys)
c.9751C>T (p.Arg3251Cys)
c.9721C>T (p.Arg3241Cys)
c.9676C>T (p.Arg3226Cys)
c.9271C>T (p.Arg3091Cys)
c.8629C>T (p.Arg2877Cys)
c.6139C>T (p.Arg2047Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71812874G>ACA175535CDH23c.9617G>A (p.Arg3206His)
c.3550G>A (n.3550G>A)
c.3214G>A (n.3214G>A)
c.9632G>A (p.Arg3211His)
c.2897G>A (p.Arg966His)
n.3153G>A
c.308G>A (p.Arg103His)
c.9812G>A (p.Arg3271His)
c.9746G>A (p.Arg3249His)
c.9809G>A (p.Arg3270His)
c.9806G>A (p.Arg3269His)
c.9752G>A (p.Arg3251His)
c.9722G>A (p.Arg3241His)
c.9677G>A (p.Arg3226His)
c.9272G>A (p.Arg3091His)
c.8630G>A (p.Arg2877His)
c.6140G>A (p.Arg2047His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71812874G>CCA377137154CDH23c.9617G>C (p.Arg3206Pro)
c.3550G>C (n.3550G>C)
c.3214G>C (n.3214G>C)
c.9632G>C (p.Arg3211Pro)
c.2897G>C (p.Arg966Pro)
n.3153G>C
c.308G>C (p.Arg103Pro)
c.9812G>C (p.Arg3271Pro)
c.9746G>C (p.Arg3249Pro)
c.9809G>C (p.Arg3270Pro)
c.9806G>C (p.Arg3269Pro)
c.9752G>C (p.Arg3251Pro)
c.9722G>C (p.Arg3241Pro)
c.9677G>C (p.Arg3226Pro)
c.9272G>C (p.Arg3091Pro)
c.8630G>C (p.Arg2877Pro)
c.6140G>C (p.Arg2047Pro)
10g.71812874G=CA1918892838CDH23c.9617G= (p.Arg3206=)
c.3550G= (n.3550G=)
c.3214G= (n.3214G=)
c.9632G= (p.Arg3211=)
c.2897G= (p.Arg966=)
n.3153G=
c.308G= (p.Arg103=)
c.9812G= (p.Arg3271=)
c.9746G= (p.Arg3249=)
c.9809G= (p.Arg3270=)
c.9806G= (p.Arg3269=)
c.9752G= (p.Arg3251=)
c.9722G= (p.Arg3241=)
c.9677G= (p.Arg3226=)
c.9272G= (p.Arg3091=)
c.8630G= (p.Arg2877=)
c.6140G= (p.Arg2047=)
10g.71812874G>TCA377137155CDH23c.9617G>T (p.Arg3206Leu)
c.3550G>T (n.3550G>T)
c.3214G>T (n.3214G>T)
c.9632G>T (p.Arg3211Leu)
c.2897G>T (p.Arg966Leu)
n.3153G>T
c.308G>T (p.Arg103Leu)
c.9812G>T (p.Arg3271Leu)
c.9746G>T (p.Arg3249Leu)
c.9809G>T (p.Arg3270Leu)
c.9806G>T (p.Arg3269Leu)
c.9752G>T (p.Arg3251Leu)
c.9722G>T (p.Arg3241Leu)
c.9677G>T (p.Arg3226Leu)
c.9272G>T (p.Arg3091Leu)
c.8630G>T (p.Arg2877Leu)
c.6140G>T (p.Arg2047Leu)
 dbSNP gnomAD v4
10g.71812875T>ACA470282969CDH23c.9618T>A (p.Arg3206=)
c.3551T>A (n.3551T>A)
c.3215T>A (n.3215T>A)
c.9633T>A (p.Arg3211=)
c.2898T>A (p.Arg966=)
n.3154T>A
c.309T>A (p.Arg103=)
c.9813T>A (p.Arg3271=)
c.9747T>A (p.Arg3249=)
c.9810T>A (p.Arg3270=)
c.9807T>A (p.Arg3269=)
c.9753T>A (p.Arg3251=)
c.9723T>A (p.Arg3241=)
c.9678T>A (p.Arg3226=)
c.9273T>A (p.Arg3091=)
c.8631T>A (p.Arg2877=)
c.6141T>A (p.Arg2047=)
10g.71812875T>CCA470282970CDH23c.9618T>C (p.Arg3206=)
c.3551T>C (n.3551T>C)
c.3215T>C (n.3215T>C)
c.9633T>C (p.Arg3211=)
c.2898T>C (p.Arg966=)
n.3154T>C
c.309T>C (p.Arg103=)
c.9813T>C (p.Arg3271=)
c.9747T>C (p.Arg3249=)
c.9810T>C (p.Arg3270=)
c.9807T>C (p.Arg3269=)
c.9753T>C (p.Arg3251=)
c.9723T>C (p.Arg3241=)
c.9678T>C (p.Arg3226=)
c.9273T>C (p.Arg3091=)
c.8631T>C (p.Arg2877=)
c.6141T>C (p.Arg2047=)
10g.71812875T>GCA470282971CDH23c.9618T>G (p.Arg3206=)
c.3551T>G (n.3551T>G)
c.3215T>G (n.3215T>G)
c.9633T>G (p.Arg3211=)
c.2898T>G (p.Arg966=)
n.3154T>G
c.309T>G (p.Arg103=)
c.9813T>G (p.Arg3271=)
c.9747T>G (p.Arg3249=)
c.9810T>G (p.Arg3270=)
c.9807T>G (p.Arg3269=)
c.9753T>G (p.Arg3251=)
c.9723T>G (p.Arg3241=)
c.9678T>G (p.Arg3226=)
c.9273T>G (p.Arg3091=)
c.8631T>G (p.Arg2877=)
c.6141T>G (p.Arg2047=)
10g.71812876G>ACA377137157CDH23c.9619G>A (p.Glu3207Lys)
c.3552G>A (n.3552G>A)
c.3216G>A (n.3216G>A)
c.9634G>A (p.Glu3212Lys)
c.2899G>A (p.Glu967Lys)
n.3155G>A
c.310G>A (p.Glu104Lys)
c.9814G>A (p.Glu3272Lys)
c.9748G>A (p.Glu3250Lys)
c.9811G>A (p.Glu3271Lys)
c.9808G>A (p.Glu3270Lys)
c.9754G>A (p.Glu3252Lys)
c.9724G>A (p.Glu3242Lys)
c.9679G>A (p.Glu3227Lys)
c.9274G>A (p.Glu3092Lys)
c.8632G>A (p.Glu2878Lys)
c.6142G>A (p.Glu2048Lys)
10g.71812876G>CCA377137158CDH23c.9619G>C (p.Glu3207Gln)
c.3552G>C (n.3552G>C)
c.3216G>C (n.3216G>C)
c.9634G>C (p.Glu3212Gln)
c.2899G>C (p.Glu967Gln)
n.3155G>C
c.310G>C (p.Glu104Gln)
c.9814G>C (p.Glu3272Gln)
c.9748G>C (p.Glu3250Gln)
c.9811G>C (p.Glu3271Gln)
c.9808G>C (p.Glu3270Gln)
c.9754G>C (p.Glu3252Gln)
c.9724G>C (p.Glu3242Gln)
c.9679G>C (p.Glu3227Gln)
c.9274G>C (p.Glu3092Gln)
c.8632G>C (p.Glu2878Gln)
c.6142G>C (p.Glu2048Gln)
10g.71812876G>TCA377137156CDH23c.9619G>T (p.Glu3207Ter)
c.3552G>T (n.3552G>T)
c.3216G>T (n.3216G>T)
c.9634G>T (p.Glu3212Ter)
c.2899G>T (p.Glu967Ter)
n.3155G>T
c.310G>T (p.Glu104Ter)
c.9814G>T (p.Glu3272Ter)
c.9748G>T (p.Glu3250Ter)
c.9811G>T (p.Glu3271Ter)
c.9808G>T (p.Glu3270Ter)
c.9754G>T (p.Glu3252Ter)
c.9724G>T (p.Glu3242Ter)
c.9679G>T (p.Glu3227Ter)
c.9274G>T (p.Glu3092Ter)
c.8632G>T (p.Glu2878Ter)
c.6142G>T (p.Glu2048Ter)
10g.71812877A=CA1918892843CDH23c.9620A= (p.Glu3207=)
c.3553A= (n.3553A=)
c.3217A= (n.3217A=)
c.9635A= (p.Glu3212=)
c.2900A= (p.Glu967=)
n.3156A=
c.311A= (p.Glu104=)
c.9815A= (p.Glu3272=)
c.9749A= (p.Glu3250=)
c.9812A= (p.Glu3271=)
c.9809A= (p.Glu3270=)
c.9755A= (p.Glu3252=)
c.9725A= (p.Glu3242=)
c.9680A= (p.Glu3227=)
c.9275A= (p.Glu3092=)
c.8633A= (p.Glu2878=)
c.6143A= (p.Glu2048=)
10g.71812877A>CCA377137159CDH23c.9620A>C (p.Glu3207Ala)
c.3553A>C (n.3553A>C)
c.3217A>C (n.3217A>C)
c.9635A>C (p.Glu3212Ala)
c.2900A>C (p.Glu967Ala)
n.3156A>C
c.311A>C (p.Glu104Ala)
c.9815A>C (p.Glu3272Ala)
c.9749A>C (p.Glu3250Ala)
c.9812A>C (p.Glu3271Ala)
c.9809A>C (p.Glu3270Ala)
c.9755A>C (p.Glu3252Ala)
c.9725A>C (p.Glu3242Ala)
c.9680A>C (p.Glu3227Ala)
c.9275A>C (p.Glu3092Ala)
c.8633A>C (p.Glu2878Ala)
c.6143A>C (p.Glu2048Ala)
 dbSNP gnomAD v3 gnomAD v4
10g.71812877A>GCA377137160CDH23c.9620A>G (p.Glu3207Gly)
c.3553A>G (n.3553A>G)
c.3217A>G (n.3217A>G)
c.9635A>G (p.Glu3212Gly)
c.2900A>G (p.Glu967Gly)
n.3156A>G
c.311A>G (p.Glu104Gly)
c.9815A>G (p.Glu3272Gly)
c.9749A>G (p.Glu3250Gly)
c.9812A>G (p.Glu3271Gly)
c.9809A>G (p.Glu3270Gly)
c.9755A>G (p.Glu3252Gly)
c.9725A>G (p.Glu3242Gly)
c.9680A>G (p.Glu3227Gly)
c.9275A>G (p.Glu3092Gly)
c.8633A>G (p.Glu2878Gly)
c.6143A>G (p.Glu2048Gly)
10g.71812877A>TCA377137161CDH23c.9620A>T (p.Glu3207Val)
c.3553A>T (n.3553A>T)
c.3217A>T (n.3217A>T)
c.9635A>T (p.Glu3212Val)
c.2900A>T (p.Glu967Val)
n.3156A>T
c.311A>T (p.Glu104Val)
c.9815A>T (p.Glu3272Val)
c.9749A>T (p.Glu3250Val)
c.9812A>T (p.Glu3271Val)
c.9809A>T (p.Glu3270Val)
c.9755A>T (p.Glu3252Val)
c.9725A>T (p.Glu3242Val)
c.9680A>T (p.Glu3227Val)
c.9275A>T (p.Glu3092Val)
c.8633A>T (p.Glu2878Val)
c.6143A>T (p.Glu2048Val)
10g.71812878G>ACA470282975CDH23c.9621G>A (p.Glu3207=)
c.3554G>A (n.3554G>A)
c.3218G>A (n.3218G>A)
c.9636G>A (p.Glu3212=)
c.2901G>A (p.Glu967=)
n.3157G>A
c.312G>A (p.Glu104=)
c.9816G>A (p.Glu3272=)
c.9750G>A (p.Glu3250=)
c.9813G>A (p.Glu3271=)
c.9810G>A (p.Glu3270=)
c.9756G>A (p.Glu3252=)
c.9726G>A (p.Glu3242=)
c.9681G>A (p.Glu3227=)
c.9276G>A (p.Glu3092=)
c.8634G>A (p.Glu2878=)
c.6144G>A (p.Glu2048=)
10g.71812878G>CCA377137162CDH23c.9621G>C (p.Glu3207Asp)
c.3554G>C (n.3554G>C)
c.3218G>C (n.3218G>C)
c.9636G>C (p.Glu3212Asp)
c.2901G>C (p.Glu967Asp)
n.3157G>C
c.312G>C (p.Glu104Asp)
c.9816G>C (p.Glu3272Asp)
c.9750G>C (p.Glu3250Asp)
c.9813G>C (p.Glu3271Asp)
c.9810G>C (p.Glu3270Asp)
c.9756G>C (p.Glu3252Asp)
c.9726G>C (p.Glu3242Asp)
c.9681G>C (p.Glu3227Asp)
c.9276G>C (p.Glu3092Asp)
c.8634G>C (p.Glu2878Asp)
c.6144G>C (p.Glu2048Asp)
10g.71812878G>TCA377137163CDH23c.9621G>T (p.Glu3207Asp)
c.3554G>T (n.3554G>T)
c.3218G>T (n.3218G>T)
c.9636G>T (p.Glu3212Asp)
c.2901G>T (p.Glu967Asp)
n.3157G>T
c.312G>T (p.Glu104Asp)
c.9816G>T (p.Glu3272Asp)
c.9750G>T (p.Glu3250Asp)
c.9813G>T (p.Glu3271Asp)
c.9810G>T (p.Glu3270Asp)
c.9756G>T (p.Glu3252Asp)
c.9726G>T (p.Glu3242Asp)
c.9681G>T (p.Glu3227Asp)
c.9276G>T (p.Glu3092Asp)
c.8634G>T (p.Glu2878Asp)
c.6144G>T (p.Glu2048Asp)
10g.71812879G>ACA377137164CDH23c.9622G>A (p.Gly3208Arg)
c.3555G>A (n.3555G>A)
c.3219G>A (n.3219G>A)
c.9637G>A (p.Gly3213Arg)
c.2902G>A (p.Gly968Arg)
n.3158G>A
c.313G>A (p.Gly105Arg)
c.9817G>A (p.Gly3273Arg)
c.9751G>A (p.Gly3251Arg)
c.9814G>A (p.Gly3272Arg)
c.9811G>A (p.Gly3271Arg)
c.9757G>A (p.Gly3253Arg)
c.9727G>A (p.Gly3243Arg)
c.9682G>A (p.Gly3228Arg)
c.9277G>A (p.Gly3093Arg)
c.8635G>A (p.Gly2879Arg)
c.6145G>A (p.Gly2049Arg)
 gnomAD v4
10g.71812879G>CCA377137165CDH23c.9622G>C (p.Gly3208Arg)
c.3555G>C (n.3555G>C)
c.3219G>C (n.3219G>C)
c.9637G>C (p.Gly3213Arg)
c.2902G>C (p.Gly968Arg)
n.3158G>C
c.313G>C (p.Gly105Arg)
c.9817G>C (p.Gly3273Arg)
c.9751G>C (p.Gly3251Arg)
c.9814G>C (p.Gly3272Arg)
c.9811G>C (p.Gly3271Arg)
c.9757G>C (p.Gly3253Arg)
c.9727G>C (p.Gly3243Arg)
c.9682G>C (p.Gly3228Arg)
c.9277G>C (p.Gly3093Arg)
c.8635G>C (p.Gly2879Arg)
c.6145G>C (p.Gly2049Arg)
10g.71812879G>TCA377137166CDH23c.9622G>T (p.Gly3208Trp)
c.3555G>T (n.3555G>T)
c.3219G>T (n.3219G>T)
c.9637G>T (p.Gly3213Trp)
c.2902G>T (p.Gly968Trp)
n.3158G>T
c.313G>T (p.Gly105Trp)
c.9817G>T (p.Gly3273Trp)
c.9751G>T (p.Gly3251Trp)
c.9814G>T (p.Gly3272Trp)
c.9811G>T (p.Gly3271Trp)
c.9757G>T (p.Gly3253Trp)
c.9727G>T (p.Gly3243Trp)
c.9682G>T (p.Gly3228Trp)
c.9277G>T (p.Gly3093Trp)
c.8635G>T (p.Gly2879Trp)
c.6145G>T (p.Gly2049Trp)
10g.71812880G>ACA377137167CDH23c.9623G>A (p.Gly3208Glu)
c.3556G>A (n.3556G>A)
c.3220G>A (n.3220G>A)
c.9638G>A (p.Gly3213Glu)
c.2903G>A (p.Gly968Glu)
n.3159G>A
c.314G>A (p.Gly105Glu)
c.9818G>A (p.Gly3273Glu)
c.9752G>A (p.Gly3251Glu)
c.9815G>A (p.Gly3272Glu)
c.9812G>A (p.Gly3271Glu)
c.9758G>A (p.Gly3253Glu)
c.9728G>A (p.Gly3243Glu)
c.9683G>A (p.Gly3228Glu)
c.9278G>A (p.Gly3093Glu)
c.8636G>A (p.Gly2879Glu)
c.6146G>A (p.Gly2049Glu)
 dbSNP gnomAD v2 gnomAD v4
10g.71812880G>CCA377137168CDH23c.9623G>C (p.Gly3208Ala)
c.3556G>C (n.3556G>C)
c.3220G>C (n.3220G>C)
c.9638G>C (p.Gly3213Ala)
c.2903G>C (p.Gly968Ala)
n.3159G>C
c.314G>C (p.Gly105Ala)
c.9818G>C (p.Gly3273Ala)
c.9752G>C (p.Gly3251Ala)
c.9815G>C (p.Gly3272Ala)
c.9812G>C (p.Gly3271Ala)
c.9758G>C (p.Gly3253Ala)
c.9728G>C (p.Gly3243Ala)
c.9683G>C (p.Gly3228Ala)
c.9278G>C (p.Gly3093Ala)
c.8636G>C (p.Gly2879Ala)
c.6146G>C (p.Gly2049Ala)
10g.71812880G=CA1918892846CDH23c.9623G= (p.Gly3208=)
c.3556G= (n.3556G=)
c.3220G= (n.3220G=)
c.9638G= (p.Gly3213=)
c.2903G= (p.Gly968=)
n.3159G=
c.314G= (p.Gly105=)
c.9818G= (p.Gly3273=)
c.9752G= (p.Gly3251=)
c.9815G= (p.Gly3272=)
c.9812G= (p.Gly3271=)
c.9758G= (p.Gly3253=)
c.9728G= (p.Gly3243=)
c.9683G= (p.Gly3228=)
c.9278G= (p.Gly3093=)
c.8636G= (p.Gly2879=)
c.6146G= (p.Gly2049=)
10g.71812880G>TCA377137169CDH23c.9623G>T (p.Gly3208Val)
c.3556G>T (n.3556G>T)
c.3220G>T (n.3220G>T)
c.9638G>T (p.Gly3213Val)
c.2903G>T (p.Gly968Val)
n.3159G>T
c.314G>T (p.Gly105Val)
c.9818G>T (p.Gly3273Val)
c.9752G>T (p.Gly3251Val)
c.9815G>T (p.Gly3272Val)
c.9812G>T (p.Gly3271Val)
c.9758G>T (p.Gly3253Val)
c.9728G>T (p.Gly3243Val)
c.9683G>T (p.Gly3228Val)
c.9278G>T (p.Gly3093Val)
c.8636G>T (p.Gly2879Val)
c.6146G>T (p.Gly2049Val)
 dbSNP
10g.71812881G>ACA470282978CDH23c.9624G>A (p.Gly3208=)
c.3557G>A (n.3557G>A)
c.3221G>A (n.3221G>A)
c.9639G>A (p.Gly3213=)
c.2904G>A (p.Gly968=)
n.3160G>A
c.315G>A (p.Gly105=)
c.9819G>A (p.Gly3273=)
c.9753G>A (p.Gly3251=)
c.9816G>A (p.Gly3272=)
c.9813G>A (p.Gly3271=)
c.9759G>A (p.Gly3253=)
c.9729G>A (p.Gly3243=)
c.9684G>A (p.Gly3228=)
c.9279G>A (p.Gly3093=)
c.8637G>A (p.Gly2879=)
c.6147G>A (p.Gly2049=)
 dbSNP gnomAD v2
10g.71812881G>CCA470282979CDH23c.9624G>C (p.Gly3208=)
c.3557G>C (n.3557G>C)
c.3221G>C (n.3221G>C)
c.9639G>C (p.Gly3213=)
c.2904G>C (p.Gly968=)
n.3160G>C
c.315G>C (p.Gly105=)
c.9819G>C (p.Gly3273=)
c.9753G>C (p.Gly3251=)
c.9816G>C (p.Gly3272=)
c.9813G>C (p.Gly3271=)
c.9759G>C (p.Gly3253=)
c.9729G>C (p.Gly3243=)
c.9684G>C (p.Gly3228=)
c.9279G>C (p.Gly3093=)
c.8637G>C (p.Gly2879=)
c.6147G>C (p.Gly2049=)
10g.71812881G=CA1918892849CDH23c.9624G= (p.Gly3208=)
c.3557G= (n.3557G=)
c.3221G= (n.3221G=)
c.9639G= (p.Gly3213=)
c.2904G= (p.Gly968=)
n.3160G=
c.315G= (p.Gly105=)
c.9819G= (p.Gly3273=)
c.9753G= (p.Gly3251=)
c.9816G= (p.Gly3272=)
c.9813G= (p.Gly3271=)
c.9759G= (p.Gly3253=)
c.9729G= (p.Gly3243=)
c.9684G= (p.Gly3228=)
c.9279G= (p.Gly3093=)
c.8637G= (p.Gly2879=)
c.6147G= (p.Gly2049=)
10g.71812881G>TCA470282981CDH23c.9624G>T (p.Gly3208=)
c.3557G>T (n.3557G>T)
c.3221G>T (n.3221G>T)
c.9639G>T (p.Gly3213=)
c.2904G>T (p.Gly968=)
n.3160G>T
c.315G>T (p.Gly105=)
c.9819G>T (p.Gly3273=)
c.9753G>T (p.Gly3251=)
c.9816G>T (p.Gly3272=)
c.9813G>T (p.Gly3271=)
c.9759G>T (p.Gly3253=)
c.9729G>T (p.Gly3243=)
c.9684G>T (p.Gly3228=)
c.9279G>T (p.Gly3093=)
c.8637G>T (p.Gly2879=)
c.6147G>T (p.Gly2049=)

Number of alleles fetched