Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71814931_71815012delinsGGGGGTCCCGGCCTCTTGCAGCTGATACAGACTGAGCTGGACGAGGAGCCAGGAGACCACAGCCCAGGGCAGGGTAGCCTGCCA1918895403CDH23c.9739-21_9799delinsGGGGGTCCCGGCCTCTTGCAGCTGATACAGACTGAGCTGGACGAGGAGCCAGGAGACCACAGCCCAGGGCAGGGTAGCCTGC
c.3672-21_3732delinsGGGGGTCCCGGCCTCTTGCAGCTGATACAGACTGAGCTGGACGAGGAGCCAGGAGACCACAGCCCAGGGCAGGGTAGCCTGC
c.3231-21_3291delinsGGGGGTCCCGGCCTCTTGCAGCTGATACAGACTGAGCTGGACGAGGAGCCAGGAGACCACAGCCCAGGGCAGGGTAGCCTGC
c.9754-21_9814delinsGGGGGTCCCGGCCTCTTGCAGCTGATACAGACTGAGCTGGACGAGGAGCCAGGAGACCACAGCCCAGGGCAGGGTAGCCTGC
c.3019-21_3079delinsGGGGGTCCCGGCCTCTTGCAGCTGATACAGACTGAGCTGGACGAGGAGCCAGGAGACCACAGCCCAGGGCAGGGTAGCCTGC
n.3170-21_3230delinsGGGGGTCCCGGCCTCTTGCAGCTGATACAGACTGAGCTGGACGAGGAGCCAGGAGACCACAGCCCAGGGCAGGGTAGCCTGC
c.2914-21_2974delinsGGGGGTCCCGGCCTCTTGCAGCTGATACAGACTGAGCTGGACGAGGAGCCAGGAGACCACAGCCCAGGGCAGGGTAGCCTGC
c.430-21_490delinsGGGGGTCCCGGCCTCTTGCAGCTGATACAGACTGAGCTGGACGAGGAGCCAGGAGACCACAGCCCAGGGCAGGGTAGCCTGC
c.325-21_385delinsGGGGGTCCCGGCCTCTTGCAGCTGATACAGACTGAGCTGGACGAGGAGCCAGGAGACCACAGCCCAGGGCAGGGTAGCCTGC
c.9934-21_9994delinsGGGGGTCCCGGCCTCTTGCAGCTGATACAGACTGAGCTGGACGAGGAGCCAGGAGACCACAGCCCAGGGCAGGGTAGCCTGC
c.9868-21_9928delinsGGGGGTCCCGGCCTCTTGCAGCTGATACAGACTGAGCTGGACGAGGAGCCAGGAGACCACAGCCCAGGGCAGGGTAGCCTGC
c.9931-21_9991delinsGGGGGTCCCGGCCTCTTGCAGCTGATACAGACTGAGCTGGACGAGGAGCCAGGAGACCACAGCCCAGGGCAGGGTAGCCTGC
c.9928-21_9988delinsGGGGGTCCCGGCCTCTTGCAGCTGATACAGACTGAGCTGGACGAGGAGCCAGGAGACCACAGCCCAGGGCAGGGTAGCCTGC
c.9874-21_9934delinsGGGGGTCCCGGCCTCTTGCAGCTGATACAGACTGAGCTGGACGAGGAGCCAGGAGACCACAGCCCAGGGCAGGGTAGCCTGC
c.9844-21_9904delinsGGGGGTCCCGGCCTCTTGCAGCTGATACAGACTGAGCTGGACGAGGAGCCAGGAGACCACAGCCCAGGGCAGGGTAGCCTGC
c.9829-21_9889delinsGGGGGTCCCGGCCTCTTGCAGCTGATACAGACTGAGCTGGACGAGGAGCCAGGAGACCACAGCCCAGGGCAGGGTAGCCTGC
c.9799-21_9859delinsGGGGGTCCCGGCCTCTTGCAGCTGATACAGACTGAGCTGGACGAGGAGCCAGGAGACCACAGCCCAGGGCAGGGTAGCCTGC
c.9394-21_9454delinsGGGGGTCCCGGCCTCTTGCAGCTGATACAGACTGAGCTGGACGAGGAGCCAGGAGACCACAGCCCAGGGCAGGGTAGCCTGC
c.8752-21_8812delinsGGGGGTCCCGGCCTCTTGCAGCTGATACAGACTGAGCTGGACGAGGAGCCAGGAGACCACAGCCCAGGGCAGGGTAGCCTGC
c.6262-21_6322delinsGGGGGTCCCGGCCTCTTGCAGCTGATACAGACTGAGCTGGACGAGGAGCCAGGAGACCACAGCCCAGGGCAGGGTAGCCTGC
10g.71814933_71815013delCA594308222CDH23c.9739-19_9800del
c.3672-19_3733del
c.3231-19_3292del
c.9754-19_9815del
c.3019-19_3080del
n.3170-19_3231del
c.2914-19_2975del
c.430-19_491del
c.325-19_386del
c.9934-19_9995del
c.9868-19_9929del
c.9931-19_9992del
c.9928-19_9989del
c.9874-19_9935del
c.9844-19_9905del
c.9829-19_9890del
c.9799-19_9860del
c.9394-19_9455del
c.8752-19_8813del
c.6262-19_6323del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71815003_71815007delCA2788486514CDH23c.9790_9794del (p.Gly3264ProfsTer?)
c.3723_3727del (n.3723_3727del)
c.3282_3286del (n.3282_3286del)
c.9805_9809del (p.Gly3269ProfsTer?)
c.3070_3074del (p.Gly1024ProfsTer?)
n.3221_3225del
c.2965_2969del (p.Gly989ProfsTer?)
c.481_485del (p.Gly161ProfsTer?)
c.376_380del (p.Gly126ProfsTer?)
c.9985_9989del (p.Gly3329ProfsTer?)
c.9919_9923del (p.Gly3307ProfsTer?)
c.9982_9986del (p.Gly3328ProfsTer?)
c.9979_9983del (p.Gly3327ProfsTer?)
c.9925_9929del (p.Gly3309ProfsTer?)
c.9895_9899del (p.Gly3299ProfsTer?)
c.9880_9884del (p.Gly3294ProfsTer?)
c.9850_9854del (p.Gly3284ProfsTer?)
c.9445_9449del (p.Gly3149ProfsTer?)
c.8803_8807del (p.Gly2935ProfsTer?)
c.6313_6317del (p.Gly2105ProfsTer?)
10g.71815003G>ACA377137986CDH23c.9790G>A (p.Gly3264Ser)
c.3723G>A (n.3723G>A)
c.3282G>A (n.3282G>A)
c.9805G>A (p.Gly3269Ser)
c.3070G>A (p.Gly1024Ser)
n.3221G>A
c.2965G>A (p.Gly989Ser)
c.481G>A (p.Gly161Ser)
c.376G>A (p.Gly126Ser)
c.9985G>A (p.Gly3329Ser)
c.9919G>A (p.Gly3307Ser)
c.9982G>A (p.Gly3328Ser)
c.9979G>A (p.Gly3327Ser)
c.9925G>A (p.Gly3309Ser)
c.9895G>A (p.Gly3299Ser)
c.9880G>A (p.Gly3294Ser)
c.9850G>A (p.Gly3284Ser)
c.9445G>A (p.Gly3149Ser)
c.8803G>A (p.Gly2935Ser)
c.6313G>A (p.Gly2105Ser)
10g.71815003G>CCA377137988CDH23c.9790G>C (p.Gly3264Arg)
c.3723G>C (n.3723G>C)
c.3282G>C (n.3282G>C)
c.9805G>C (p.Gly3269Arg)
c.3070G>C (p.Gly1024Arg)
n.3221G>C
c.2965G>C (p.Gly989Arg)
c.481G>C (p.Gly161Arg)
c.376G>C (p.Gly126Arg)
c.9985G>C (p.Gly3329Arg)
c.9919G>C (p.Gly3307Arg)
c.9982G>C (p.Gly3328Arg)
c.9979G>C (p.Gly3327Arg)
c.9925G>C (p.Gly3309Arg)
c.9895G>C (p.Gly3299Arg)
c.9880G>C (p.Gly3294Arg)
c.9850G>C (p.Gly3284Arg)
c.9445G>C (p.Gly3149Arg)
c.8803G>C (p.Gly2935Arg)
c.6313G>C (p.Gly2105Arg)
10g.71815003G>TCA377137989CDH23c.9790G>T (p.Gly3264Cys)
c.3723G>T (n.3723G>T)
c.3282G>T (n.3282G>T)
c.9805G>T (p.Gly3269Cys)
c.3070G>T (p.Gly1024Cys)
n.3221G>T
c.2965G>T (p.Gly989Cys)
c.481G>T (p.Gly161Cys)
c.376G>T (p.Gly126Cys)
c.9985G>T (p.Gly3329Cys)
c.9919G>T (p.Gly3307Cys)
c.9982G>T (p.Gly3328Cys)
c.9979G>T (p.Gly3327Cys)
c.9925G>T (p.Gly3309Cys)
c.9895G>T (p.Gly3299Cys)
c.9880G>T (p.Gly3294Cys)
c.9850G>T (p.Gly3284Cys)
c.9445G>T (p.Gly3149Cys)
c.8803G>T (p.Gly2935Cys)
c.6313G>T (p.Gly2105Cys)
10g.71815004G>ACA377137995CDH23c.9791G>A (p.Gly3264Asp)
c.3724G>A (n.3724G>A)
c.3283G>A (n.3283G>A)
c.9806G>A (p.Gly3269Asp)
c.3071G>A (p.Gly1024Asp)
n.3222G>A
c.2966G>A (p.Gly989Asp)
c.482G>A (p.Gly161Asp)
c.377G>A (p.Gly126Asp)
c.9986G>A (p.Gly3329Asp)
c.9920G>A (p.Gly3307Asp)
c.9983G>A (p.Gly3328Asp)
c.9980G>A (p.Gly3327Asp)
c.9926G>A (p.Gly3309Asp)
c.9896G>A (p.Gly3299Asp)
c.9881G>A (p.Gly3294Asp)
c.9851G>A (p.Gly3284Asp)
c.9446G>A (p.Gly3149Asp)
c.8804G>A (p.Gly2935Asp)
c.6314G>A (p.Gly2105Asp)
10g.71815004G>CCA377137991CDH23c.9791G>C (p.Gly3264Ala)
c.3724G>C (n.3724G>C)
c.3283G>C (n.3283G>C)
c.9806G>C (p.Gly3269Ala)
c.3071G>C (p.Gly1024Ala)
n.3222G>C
c.2966G>C (p.Gly989Ala)
c.482G>C (p.Gly161Ala)
c.377G>C (p.Gly126Ala)
c.9986G>C (p.Gly3329Ala)
c.9920G>C (p.Gly3307Ala)
c.9983G>C (p.Gly3328Ala)
c.9980G>C (p.Gly3327Ala)
c.9926G>C (p.Gly3309Ala)
c.9896G>C (p.Gly3299Ala)
c.9881G>C (p.Gly3294Ala)
c.9851G>C (p.Gly3284Ala)
c.9446G>C (p.Gly3149Ala)
c.8804G>C (p.Gly2935Ala)
c.6314G>C (p.Gly2105Ala)
10g.71815004G>TCA377137993CDH23c.9791G>T (p.Gly3264Val)
c.3724G>T (n.3724G>T)
c.3283G>T (n.3283G>T)
c.9806G>T (p.Gly3269Val)
c.3071G>T (p.Gly1024Val)
n.3222G>T
c.2966G>T (p.Gly989Val)
c.482G>T (p.Gly161Val)
c.377G>T (p.Gly126Val)
c.9986G>T (p.Gly3329Val)
c.9920G>T (p.Gly3307Val)
c.9983G>T (p.Gly3328Val)
c.9980G>T (p.Gly3327Val)
c.9926G>T (p.Gly3309Val)
c.9896G>T (p.Gly3299Val)
c.9881G>T (p.Gly3294Val)
c.9851G>T (p.Gly3284Val)
c.9446G>T (p.Gly3149Val)
c.8804G>T (p.Gly2935Val)
c.6314G>T (p.Gly2105Val)
10g.71815005T>ACA470283122CDH23c.9792T>A (p.Gly3264=)
c.3725T>A (n.3725T>A)
c.3284T>A (n.3284T>A)
c.9807T>A (p.Gly3269=)
c.3072T>A (p.Gly1024=)
n.3223T>A
c.2967T>A (p.Gly989=)
c.483T>A (p.Gly161=)
c.378T>A (p.Gly126=)
c.9987T>A (p.Gly3329=)
c.9921T>A (p.Gly3307=)
c.9984T>A (p.Gly3328=)
c.9981T>A (p.Gly3327=)
c.9927T>A (p.Gly3309=)
c.9897T>A (p.Gly3299=)
c.9882T>A (p.Gly3294=)
c.9852T>A (p.Gly3284=)
c.9447T>A (p.Gly3149=)
c.8805T>A (p.Gly2935=)
c.6315T>A (p.Gly2105=)
10g.71815005T>CCA470283123CDH23c.9792T>C (p.Gly3264=)
c.3725T>C (n.3725T>C)
c.3284T>C (n.3284T>C)
c.9807T>C (p.Gly3269=)
c.3072T>C (p.Gly1024=)
n.3223T>C
c.2967T>C (p.Gly989=)
c.483T>C (p.Gly161=)
c.378T>C (p.Gly126=)
c.9987T>C (p.Gly3329=)
c.9921T>C (p.Gly3307=)
c.9984T>C (p.Gly3328=)
c.9981T>C (p.Gly3327=)
c.9927T>C (p.Gly3309=)
c.9897T>C (p.Gly3299=)
c.9882T>C (p.Gly3294=)
c.9852T>C (p.Gly3284=)
c.9447T>C (p.Gly3149=)
c.8805T>C (p.Gly2935=)
c.6315T>C (p.Gly2105=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71815005T>GCA470283125CDH23c.9792T>G (p.Gly3264=)
c.3725T>G (n.3725T>G)
c.3284T>G (n.3284T>G)
c.9807T>G (p.Gly3269=)
c.3072T>G (p.Gly1024=)
n.3223T>G
c.2967T>G (p.Gly989=)
c.483T>G (p.Gly161=)
c.378T>G (p.Gly126=)
c.9987T>G (p.Gly3329=)
c.9921T>G (p.Gly3307=)
c.9984T>G (p.Gly3328=)
c.9981T>G (p.Gly3327=)
c.9927T>G (p.Gly3309=)
c.9897T>G (p.Gly3299=)
c.9882T>G (p.Gly3294=)
c.9852T>G (p.Gly3284=)
c.9447T>G (p.Gly3149=)
c.8805T>G (p.Gly2935=)
c.6315T>G (p.Gly2105=)
 dbSNP
10g.71815005T=CA1918895545CDH23c.9792T= (p.Gly3264=)
c.3725T= (n.3725T=)
c.3284T= (n.3284T=)
c.9807T= (p.Gly3269=)
c.3072T= (p.Gly1024=)
n.3223T=
c.2967T= (p.Gly989=)
c.483T= (p.Gly161=)
c.378T= (p.Gly126=)
c.9987T= (p.Gly3329=)
c.9921T= (p.Gly3307=)
c.9984T= (p.Gly3328=)
c.9981T= (p.Gly3327=)
c.9927T= (p.Gly3309=)
c.9897T= (p.Gly3299=)
c.9882T= (p.Gly3294=)
c.9852T= (p.Gly3284=)
c.9447T= (p.Gly3149=)
c.8805T= (p.Gly2935=)
c.6315T= (p.Gly2105=)
10g.71815006A>CCA377137997CDH23c.9793A>C (p.Ser3265Arg)
c.3726A>C (n.3726A>C)
c.3285A>C (n.3285A>C)
c.9808A>C (p.Ser3270Arg)
c.3073A>C (p.Ser1025Arg)
n.3224A>C
c.2968A>C (p.Ser990Arg)
c.484A>C (p.Ser162Arg)
c.379A>C (p.Ser127Arg)
c.9988A>C (p.Ser3330Arg)
c.9922A>C (p.Ser3308Arg)
c.9985A>C (p.Ser3329Arg)
c.9982A>C (p.Ser3328Arg)
c.9928A>C (p.Ser3310Arg)
c.9898A>C (p.Ser3300Arg)
c.9883A>C (p.Ser3295Arg)
c.9853A>C (p.Ser3285Arg)
c.9448A>C (p.Ser3150Arg)
c.8806A>C (p.Ser2936Arg)
c.6316A>C (p.Ser2106Arg)
10g.71815006A>GCA377137999CDH23c.9793A>G (p.Ser3265Gly)
c.3726A>G (n.3726A>G)
c.3285A>G (n.3285A>G)
c.9808A>G (p.Ser3270Gly)
c.3073A>G (p.Ser1025Gly)
n.3224A>G
c.2968A>G (p.Ser990Gly)
c.484A>G (p.Ser162Gly)
c.379A>G (p.Ser127Gly)
c.9988A>G (p.Ser3330Gly)
c.9922A>G (p.Ser3308Gly)
c.9985A>G (p.Ser3329Gly)
c.9982A>G (p.Ser3328Gly)
c.9928A>G (p.Ser3310Gly)
c.9898A>G (p.Ser3300Gly)
c.9883A>G (p.Ser3295Gly)
c.9853A>G (p.Ser3285Gly)
c.9448A>G (p.Ser3150Gly)
c.8806A>G (p.Ser2936Gly)
c.6316A>G (p.Ser2106Gly)
10g.71815006A>TCA377138001CDH23c.9793A>T (p.Ser3265Cys)
c.3726A>T (n.3726A>T)
c.3285A>T (n.3285A>T)
c.9808A>T (p.Ser3270Cys)
c.3073A>T (p.Ser1025Cys)
n.3224A>T
c.2968A>T (p.Ser990Cys)
c.484A>T (p.Ser162Cys)
c.379A>T (p.Ser127Cys)
c.9988A>T (p.Ser3330Cys)
c.9922A>T (p.Ser3308Cys)
c.9985A>T (p.Ser3329Cys)
c.9982A>T (p.Ser3328Cys)
c.9928A>T (p.Ser3310Cys)
c.9898A>T (p.Ser3300Cys)
c.9883A>T (p.Ser3295Cys)
c.9853A>T (p.Ser3285Cys)
c.9448A>T (p.Ser3150Cys)
c.8806A>T (p.Ser2936Cys)
c.6316A>T (p.Ser2106Cys)
10g.71815007G>ACA377138003CDH23c.9794G>A (p.Ser3265Asn)
c.3727G>A (n.3727G>A)
c.3286G>A (n.3286G>A)
c.9809G>A (p.Ser3270Asn)
c.3074G>A (p.Ser1025Asn)
n.3225G>A
c.2969G>A (p.Ser990Asn)
c.485G>A (p.Ser162Asn)
c.380G>A (p.Ser127Asn)
c.9989G>A (p.Ser3330Asn)
c.9923G>A (p.Ser3308Asn)
c.9986G>A (p.Ser3329Asn)
c.9983G>A (p.Ser3328Asn)
c.9929G>A (p.Ser3310Asn)
c.9899G>A (p.Ser3300Asn)
c.9884G>A (p.Ser3295Asn)
c.9854G>A (p.Ser3285Asn)
c.9449G>A (p.Ser3150Asn)
c.8807G>A (p.Ser2936Asn)
c.6317G>A (p.Ser2106Asn)
10g.71815007G>CCA377138005CDH23c.9794G>C (p.Ser3265Thr)
c.3727G>C (n.3727G>C)
c.3286G>C (n.3286G>C)
c.9809G>C (p.Ser3270Thr)
c.3074G>C (p.Ser1025Thr)
n.3225G>C
c.2969G>C (p.Ser990Thr)
c.485G>C (p.Ser162Thr)
c.380G>C (p.Ser127Thr)
c.9989G>C (p.Ser3330Thr)
c.9923G>C (p.Ser3308Thr)
c.9986G>C (p.Ser3329Thr)
c.9983G>C (p.Ser3328Thr)
c.9929G>C (p.Ser3310Thr)
c.9899G>C (p.Ser3300Thr)
c.9884G>C (p.Ser3295Thr)
c.9854G>C (p.Ser3285Thr)
c.9449G>C (p.Ser3150Thr)
c.8807G>C (p.Ser2936Thr)
c.6317G>C (p.Ser2106Thr)
 ClinVar
10g.71815007G>TCA377138007CDH23c.9794G>T (p.Ser3265Ile)
c.3727G>T (n.3727G>T)
c.3286G>T (n.3286G>T)
c.9809G>T (p.Ser3270Ile)
c.3074G>T (p.Ser1025Ile)
n.3225G>T
c.2969G>T (p.Ser990Ile)
c.485G>T (p.Ser162Ile)
c.380G>T (p.Ser127Ile)
c.9989G>T (p.Ser3330Ile)
c.9923G>T (p.Ser3308Ile)
c.9986G>T (p.Ser3329Ile)
c.9983G>T (p.Ser3328Ile)
c.9929G>T (p.Ser3310Ile)
c.9899G>T (p.Ser3300Ile)
c.9884G>T (p.Ser3295Ile)
c.9854G>T (p.Ser3285Ile)
c.9449G>T (p.Ser3150Ile)
c.8807G>T (p.Ser2936Ile)
c.6317G>T (p.Ser2106Ile)
 gnomAD v4
10g.71815008C>ACA377138011CDH23c.9795C>A (p.Ser3265Arg)
c.3728C>A (n.3728C>A)
c.3287C>A (n.3287C>A)
c.9810C>A (p.Ser3270Arg)
c.3075C>A (p.Ser1025Arg)
n.3226C>A
c.2970C>A (p.Ser990Arg)
c.486C>A (p.Ser162Arg)
c.381C>A (p.Ser127Arg)
c.9990C>A (p.Ser3330Arg)
c.9924C>A (p.Ser3308Arg)
c.9987C>A (p.Ser3329Arg)
c.9984C>A (p.Ser3328Arg)
c.9930C>A (p.Ser3310Arg)
c.9900C>A (p.Ser3300Arg)
c.9885C>A (p.Ser3295Arg)
c.9855C>A (p.Ser3285Arg)
c.9450C>A (p.Ser3150Arg)
c.8808C>A (p.Ser2936Arg)
c.6318C>A (p.Ser2106Arg)
10g.71815008C>GCA377138009CDH23c.9795C>G (p.Ser3265Arg)
c.3728C>G (n.3728C>G)
c.3287C>G (n.3287C>G)
c.9810C>G (p.Ser3270Arg)
c.3075C>G (p.Ser1025Arg)
n.3226C>G
c.2970C>G (p.Ser990Arg)
c.486C>G (p.Ser162Arg)
c.381C>G (p.Ser127Arg)
c.9990C>G (p.Ser3330Arg)
c.9924C>G (p.Ser3308Arg)
c.9987C>G (p.Ser3329Arg)
c.9984C>G (p.Ser3328Arg)
c.9930C>G (p.Ser3310Arg)
c.9900C>G (p.Ser3300Arg)
c.9885C>G (p.Ser3295Arg)
c.9855C>G (p.Ser3285Arg)
c.9450C>G (p.Ser3150Arg)
c.8808C>G (p.Ser2936Arg)
c.6318C>G (p.Ser2106Arg)
 gnomAD v4
10g.71815008C>TCA470283132CDH23c.9795C>T (p.Ser3265=)
c.3728C>T (n.3728C>T)
c.3287C>T (n.3287C>T)
c.9810C>T (p.Ser3270=)
c.3075C>T (p.Ser1025=)
n.3226C>T
c.2970C>T (p.Ser990=)
c.486C>T (p.Ser162=)
c.381C>T (p.Ser127=)
c.9990C>T (p.Ser3330=)
c.9924C>T (p.Ser3308=)
c.9987C>T (p.Ser3329=)
c.9984C>T (p.Ser3328=)
c.9930C>T (p.Ser3310=)
c.9900C>T (p.Ser3300=)
c.9885C>T (p.Ser3295=)
c.9855C>T (p.Ser3285=)
c.9450C>T (p.Ser3150=)
c.8808C>T (p.Ser2936=)
c.6318C>T (p.Ser2106=)
 dbSNP
10g.71815009C>ACA377138013CDH23c.9796C>A (p.Leu3266Met)
c.3729C>A (n.3729C>A)
c.3288C>A (n.3288C>A)
c.9811C>A (p.Leu3271Met)
c.3076C>A (p.Leu1026Met)
n.3227C>A
c.2971C>A (p.Leu991Met)
c.487C>A (p.Leu163Met)
c.382C>A (p.Leu128Met)
c.9991C>A (p.Leu3331Met)
c.9925C>A (p.Leu3309Met)
c.9988C>A (p.Leu3330Met)
c.9985C>A (p.Leu3329Met)
c.9931C>A (p.Leu3311Met)
c.9901C>A (p.Leu3301Met)
c.9886C>A (p.Leu3296Met)
c.9856C>A (p.Leu3286Met)
c.9451C>A (p.Leu3151Met)
c.8809C>A (p.Leu2937Met)
c.6319C>A (p.Leu2107Met)
10g.71815009C>GCA377138015CDH23c.9796C>G (p.Leu3266Val)
c.3729C>G (n.3729C>G)
c.3288C>G (n.3288C>G)
c.9811C>G (p.Leu3271Val)
c.3076C>G (p.Leu1026Val)
n.3227C>G
c.2971C>G (p.Leu991Val)
c.487C>G (p.Leu163Val)
c.382C>G (p.Leu128Val)
c.9991C>G (p.Leu3331Val)
c.9925C>G (p.Leu3309Val)
c.9988C>G (p.Leu3330Val)
c.9985C>G (p.Leu3329Val)
c.9931C>G (p.Leu3311Val)
c.9901C>G (p.Leu3301Val)
c.9886C>G (p.Leu3296Val)
c.9856C>G (p.Leu3286Val)
c.9451C>G (p.Leu3151Val)
c.8809C>G (p.Leu2937Val)
c.6319C>G (p.Leu2107Val)
10g.71815009C>TCA470283134CDH23c.9796C>T (p.Leu3266=)
c.3729C>T (n.3729C>T)
c.3288C>T (n.3288C>T)
c.9811C>T (p.Leu3271=)
c.3076C>T (p.Leu1026=)
n.3227C>T
c.2971C>T (p.Leu991=)
c.487C>T (p.Leu163=)
c.382C>T (p.Leu128=)
c.9991C>T (p.Leu3331=)
c.9925C>T (p.Leu3309=)
c.9988C>T (p.Leu3330=)
c.9985C>T (p.Leu3329=)
c.9931C>T (p.Leu3311=)
c.9901C>T (p.Leu3301=)
c.9886C>T (p.Leu3296=)
c.9856C>T (p.Leu3286=)
c.9451C>T (p.Leu3151=)
c.8809C>T (p.Leu2937=)
c.6319C>T (p.Leu2107=)
 ClinVar dbSNP
10g.71815010T>ACA377138018CDH23c.9797T>A (p.Leu3266Gln)
c.3730T>A (n.3730T>A)
c.3289T>A (n.3289T>A)
c.9812T>A (p.Leu3271Gln)
c.3077T>A (p.Leu1026Gln)
n.3228T>A
c.2972T>A (p.Leu991Gln)
c.488T>A (p.Leu163Gln)
c.383T>A (p.Leu128Gln)
c.9992T>A (p.Leu3331Gln)
c.9926T>A (p.Leu3309Gln)
c.9989T>A (p.Leu3330Gln)
c.9986T>A (p.Leu3329Gln)
c.9932T>A (p.Leu3311Gln)
c.9902T>A (p.Leu3301Gln)
c.9887T>A (p.Leu3296Gln)
c.9857T>A (p.Leu3286Gln)
c.9452T>A (p.Leu3151Gln)
c.8810T>A (p.Leu2937Gln)
c.6320T>A (p.Leu2107Gln)
10g.71815010T>CCA377138021CDH23c.9797T>C (p.Leu3266Pro)
c.3730T>C (n.3730T>C)
c.3289T>C (n.3289T>C)
c.9812T>C (p.Leu3271Pro)
c.3077T>C (p.Leu1026Pro)
n.3228T>C
c.2972T>C (p.Leu991Pro)
c.488T>C (p.Leu163Pro)
c.383T>C (p.Leu128Pro)
c.9992T>C (p.Leu3331Pro)
c.9926T>C (p.Leu3309Pro)
c.9989T>C (p.Leu3330Pro)
c.9986T>C (p.Leu3329Pro)
c.9932T>C (p.Leu3311Pro)
c.9902T>C (p.Leu3301Pro)
c.9887T>C (p.Leu3296Pro)
c.9857T>C (p.Leu3286Pro)
c.9452T>C (p.Leu3151Pro)
c.8810T>C (p.Leu2937Pro)
c.6320T>C (p.Leu2107Pro)
 dbSNP
10g.71815010T>GCA377138020CDH23c.9797T>G (p.Leu3266Arg)
c.3730T>G (n.3730T>G)
c.3289T>G (n.3289T>G)
c.9812T>G (p.Leu3271Arg)
c.3077T>G (p.Leu1026Arg)
n.3228T>G
c.2972T>G (p.Leu991Arg)
c.488T>G (p.Leu163Arg)
c.383T>G (p.Leu128Arg)
c.9992T>G (p.Leu3331Arg)
c.9926T>G (p.Leu3309Arg)
c.9989T>G (p.Leu3330Arg)
c.9986T>G (p.Leu3329Arg)
c.9932T>G (p.Leu3311Arg)
c.9902T>G (p.Leu3301Arg)
c.9887T>G (p.Leu3296Arg)
c.9857T>G (p.Leu3286Arg)
c.9452T>G (p.Leu3151Arg)
c.8810T>G (p.Leu2937Arg)
c.6320T>G (p.Leu2107Arg)
 dbSNP gnomAD v4
10g.71815010T=CA1918895547CDH23c.9797T= (p.Leu3266=)
c.3730T= (n.3730T=)
c.3289T= (n.3289T=)
c.9812T= (p.Leu3271=)
c.3077T= (p.Leu1026=)
n.3228T=
c.2972T= (p.Leu991=)
c.488T= (p.Leu163=)
c.383T= (p.Leu128=)
c.9992T= (p.Leu3331=)
c.9926T= (p.Leu3309=)
c.9989T= (p.Leu3330=)
c.9986T= (p.Leu3329=)
c.9932T= (p.Leu3311=)
c.9902T= (p.Leu3301=)
c.9887T= (p.Leu3296=)
c.9857T= (p.Leu3286=)
c.9452T= (p.Leu3151=)
c.8810T= (p.Leu2937=)
c.6320T= (p.Leu2107=)
10g.71815011G>ACA470283137CDH23c.9798G>A (p.Leu3266=)
c.3731G>A (n.3731G>A)
c.3290G>A (n.3290G>A)
c.9813G>A (p.Leu3271=)
c.3078G>A (p.Leu1026=)
n.3229G>A
c.2973G>A (p.Leu991=)
c.489G>A (p.Leu163=)
c.384G>A (p.Leu128=)
c.9993G>A (p.Leu3331=)
c.9927G>A (p.Leu3309=)
c.9990G>A (p.Leu3330=)
c.9987G>A (p.Leu3329=)
c.9933G>A (p.Leu3311=)
c.9903G>A (p.Leu3301=)
c.9888G>A (p.Leu3296=)
c.9858G>A (p.Leu3286=)
c.9453G>A (p.Leu3151=)
c.8811G>A (p.Leu2937=)
c.6321G>A (p.Leu2107=)
10g.71815011G>CCA470283138CDH23c.9798G>C (p.Leu3266=)
c.3731G>C (n.3731G>C)
c.3290G>C (n.3290G>C)
c.9813G>C (p.Leu3271=)
c.3078G>C (p.Leu1026=)
n.3229G>C
c.2973G>C (p.Leu991=)
c.489G>C (p.Leu163=)
c.384G>C (p.Leu128=)
c.9993G>C (p.Leu3331=)
c.9927G>C (p.Leu3309=)
c.9990G>C (p.Leu3330=)
c.9987G>C (p.Leu3329=)
c.9933G>C (p.Leu3311=)
c.9903G>C (p.Leu3301=)
c.9888G>C (p.Leu3296=)
c.9858G>C (p.Leu3286=)
c.9453G>C (p.Leu3151=)
c.8811G>C (p.Leu2937=)
c.6321G>C (p.Leu2107=)
10g.71815011G>TCA470283139CDH23c.9798G>T (p.Leu3266=)
c.3731G>T (n.3731G>T)
c.3290G>T (n.3290G>T)
c.9813G>T (p.Leu3271=)
c.3078G>T (p.Leu1026=)
n.3229G>T
c.2973G>T (p.Leu991=)
c.489G>T (p.Leu163=)
c.384G>T (p.Leu128=)
c.9993G>T (p.Leu3331=)
c.9927G>T (p.Leu3309=)
c.9990G>T (p.Leu3330=)
c.9987G>T (p.Leu3329=)
c.9933G>T (p.Leu3311=)
c.9903G>T (p.Leu3301=)
c.9888G>T (p.Leu3296=)
c.9858G>T (p.Leu3286=)
c.9453G>T (p.Leu3151=)
c.8811G>T (p.Leu2937=)
c.6321G>T (p.Leu2107=)
10g.71815012C>ACA209447597CDH23c.9799C>A (p.Arg3267Ser)
c.3732C>A (n.3732C>A)
c.3291C>A (n.3291C>A)
c.9814C>A (p.Arg3272Ser)
c.3079C>A (p.Arg1027Ser)
n.3230C>A
c.2974C>A (p.Arg992Ser)
c.490C>A (p.Arg164Ser)
c.385C>A (p.Arg129Ser)
c.9994C>A (p.Arg3332Ser)
c.9928C>A (p.Arg3310Ser)
c.9991C>A (p.Arg3331Ser)
c.9988C>A (p.Arg3330Ser)
c.9934C>A (p.Arg3312Ser)
c.9904C>A (p.Arg3302Ser)
c.9889C>A (p.Arg3297Ser)
c.9859C>A (p.Arg3287Ser)
c.9454C>A (p.Arg3152Ser)
c.8812C>A (p.Arg2938Ser)
c.6322C>A (p.Arg2108Ser)
 dbSNP gnomAD v4
10g.71815012C=CA1918895552CDH23c.9799C= (p.Arg3267=)
c.3732C= (n.3732C=)
c.3291C= (n.3291C=)
c.9814C= (p.Arg3272=)
c.3079C= (p.Arg1027=)
n.3230C=
c.2974C= (p.Arg992=)
c.490C= (p.Arg164=)
c.385C= (p.Arg129=)
c.9994C= (p.Arg3332=)
c.9928C= (p.Arg3310=)
c.9991C= (p.Arg3331=)
c.9988C= (p.Arg3330=)
c.9934C= (p.Arg3312=)
c.9904C= (p.Arg3302=)
c.9889C= (p.Arg3297=)
c.9859C= (p.Arg3287=)
c.9454C= (p.Arg3152=)
c.8812C= (p.Arg2938=)
c.6322C= (p.Arg2108=)
10g.71815012C>GCA377138024CDH23c.9799C>G (p.Arg3267Gly)
c.3732C>G (n.3732C>G)
c.3291C>G (n.3291C>G)
c.9814C>G (p.Arg3272Gly)
c.3079C>G (p.Arg1027Gly)
n.3230C>G
c.2974C>G (p.Arg992Gly)
c.490C>G (p.Arg164Gly)
c.385C>G (p.Arg129Gly)
c.9994C>G (p.Arg3332Gly)
c.9928C>G (p.Arg3310Gly)
c.9991C>G (p.Arg3331Gly)
c.9988C>G (p.Arg3330Gly)
c.9934C>G (p.Arg3312Gly)
c.9904C>G (p.Arg3302Gly)
c.9889C>G (p.Arg3297Gly)
c.9859C>G (p.Arg3287Gly)
c.9454C>G (p.Arg3152Gly)
c.8812C>G (p.Arg2938Gly)
c.6322C>G (p.Arg2108Gly)
10g.71815012C>TCA5547178CDH23c.9799C>T (p.Arg3267Cys)
c.3732C>T (n.3732C>T)
c.3291C>T (n.3291C>T)
c.9814C>T (p.Arg3272Cys)
c.3079C>T (p.Arg1027Cys)
n.3230C>T
c.2974C>T (p.Arg992Cys)
c.490C>T (p.Arg164Cys)
c.385C>T (p.Arg129Cys)
c.9994C>T (p.Arg3332Cys)
c.9928C>T (p.Arg3310Cys)
c.9991C>T (p.Arg3331Cys)
c.9988C>T (p.Arg3330Cys)
c.9934C>T (p.Arg3312Cys)
c.9904C>T (p.Arg3302Cys)
c.9889C>T (p.Arg3297Cys)
c.9859C>T (p.Arg3287Cys)
c.9454C>T (p.Arg3152Cys)
c.8812C>T (p.Arg2938Cys)
c.6322C>T (p.Arg2108Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71815015_71815020delCA2609588198CDH23c.9802_9807del (p.Phe3268_Arg3269del)
c.3735_3740del (n.3735_3740del)
c.3294_3299del (n.3294_3299del)
c.9817_9822del (p.Phe3273_Arg3274del)
c.3082_3087del (p.Phe1028_Arg1029del)
n.3233_3238del
c.2977_2982del (p.Phe993_Arg994del)
c.493_498del (p.Phe165_Arg166del)
c.388_393del (p.Phe130_Arg131del)
c.9997_10002del (p.Phe3333_Arg3334del)
c.9931_9936del (p.Phe3311_Arg3312del)
c.9994_9999del (p.Phe3332_Arg3333del)
c.9991_9996del (p.Phe3331_Arg3332del)
c.9937_9942del (p.Phe3313_Arg3314del)
c.9907_9912del (p.Phe3303_Arg3304del)
c.9892_9897del (p.Phe3298_Arg3299del)
c.9862_9867del (p.Phe3288_Arg3289del)
c.9457_9462del (p.Phe3153_Arg3154del)
c.8815_8820del (p.Phe2939_Arg2940del)
c.6325_6330del (p.Phe2109_Arg2110del)
 gnomAD v4
10g.71815013G>ACA5547179CDH23c.9800G>A (p.Arg3267His)
c.3733G>A (n.3733G>A)
c.3292G>A (n.3292G>A)
c.9815G>A (p.Arg3272His)
c.3080G>A (p.Arg1027His)
n.3231G>A
c.2975G>A (p.Arg992His)
c.491G>A (p.Arg164His)
c.386G>A (p.Arg129His)
c.9995G>A (p.Arg3332His)
c.9929G>A (p.Arg3310His)
c.9992G>A (p.Arg3331His)
c.9989G>A (p.Arg3330His)
c.9935G>A (p.Arg3312His)
c.9905G>A (p.Arg3302His)
c.9890G>A (p.Arg3297His)
c.9860G>A (p.Arg3287His)
c.9455G>A (p.Arg3152His)
c.8813G>A (p.Arg2938His)
c.6323G>A (p.Arg2108His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815013G>CCA377138028CDH23c.9800G>C (p.Arg3267Pro)
c.3733G>C (n.3733G>C)
c.3292G>C (n.3292G>C)
c.9815G>C (p.Arg3272Pro)
c.3080G>C (p.Arg1027Pro)
n.3231G>C
c.2975G>C (p.Arg992Pro)
c.491G>C (p.Arg164Pro)
c.386G>C (p.Arg129Pro)
c.9995G>C (p.Arg3332Pro)
c.9929G>C (p.Arg3310Pro)
c.9992G>C (p.Arg3331Pro)
c.9989G>C (p.Arg3330Pro)
c.9935G>C (p.Arg3312Pro)
c.9905G>C (p.Arg3302Pro)
c.9890G>C (p.Arg3297Pro)
c.9860G>C (p.Arg3287Pro)
c.9455G>C (p.Arg3152Pro)
c.8813G>C (p.Arg2938Pro)
c.6323G>C (p.Arg2108Pro)
 gnomAD v4
10g.71815013G=CA1918895557CDH23c.9800G= (p.Arg3267=)
c.3733G= (n.3733G=)
c.3292G= (n.3292G=)
c.9815G= (p.Arg3272=)
c.3080G= (p.Arg1027=)
n.3231G=
c.2975G= (p.Arg992=)
c.491G= (p.Arg164=)
c.386G= (p.Arg129=)
c.9995G= (p.Arg3332=)
c.9929G= (p.Arg3310=)
c.9992G= (p.Arg3331=)
c.9989G= (p.Arg3330=)
c.9935G= (p.Arg3312=)
c.9905G= (p.Arg3302=)
c.9890G= (p.Arg3297=)
c.9860G= (p.Arg3287=)
c.9455G= (p.Arg3152=)
c.8813G= (p.Arg2938=)
c.6323G= (p.Arg2108=)
10g.71815013G>TCA377138030CDH23c.9800G>T (p.Arg3267Leu)
c.3733G>T (n.3733G>T)
c.3292G>T (n.3292G>T)
c.9815G>T (p.Arg3272Leu)
c.3080G>T (p.Arg1027Leu)
n.3231G>T
c.2975G>T (p.Arg992Leu)
c.491G>T (p.Arg164Leu)
c.386G>T (p.Arg129Leu)
c.9995G>T (p.Arg3332Leu)
c.9929G>T (p.Arg3310Leu)
c.9992G>T (p.Arg3331Leu)
c.9989G>T (p.Arg3330Leu)
c.9935G>T (p.Arg3312Leu)
c.9905G>T (p.Arg3302Leu)
c.9890G>T (p.Arg3297Leu)
c.9860G>T (p.Arg3287Leu)
c.9455G>T (p.Arg3152Leu)
c.8813G>T (p.Arg2938Leu)
c.6323G>T (p.Arg2108Leu)
10g.71815014C>ACA470283143CDH23c.9801C>A (p.Arg3267=)
c.3734C>A (n.3734C>A)
c.3293C>A (n.3293C>A)
c.9816C>A (p.Arg3272=)
c.3081C>A (p.Arg1027=)
n.3232C>A
c.2976C>A (p.Arg992=)
c.492C>A (p.Arg164=)
c.387C>A (p.Arg129=)
c.9996C>A (p.Arg3332=)
c.9930C>A (p.Arg3310=)
c.9993C>A (p.Arg3331=)
c.9990C>A (p.Arg3330=)
c.9936C>A (p.Arg3312=)
c.9906C>A (p.Arg3302=)
c.9891C>A (p.Arg3297=)
c.9861C>A (p.Arg3287=)
c.9456C>A (p.Arg3152=)
c.8814C>A (p.Arg2938=)
c.6324C>A (p.Arg2108=)
 dbSNP
10g.71815014C=CA1918895561CDH23c.9801C= (p.Arg3267=)
c.3734C= (n.3734C=)
c.3293C= (n.3293C=)
c.9816C= (p.Arg3272=)
c.3081C= (p.Arg1027=)
n.3232C=
c.2976C= (p.Arg992=)
c.492C= (p.Arg164=)
c.387C= (p.Arg129=)
c.9996C= (p.Arg3332=)
c.9930C= (p.Arg3310=)
c.9993C= (p.Arg3331=)
c.9990C= (p.Arg3330=)
c.9936C= (p.Arg3312=)
c.9906C= (p.Arg3302=)
c.9891C= (p.Arg3297=)
c.9861C= (p.Arg3287=)
c.9456C= (p.Arg3152=)
c.8814C= (p.Arg2938=)
c.6324C= (p.Arg2108=)
10g.71815014C>GCA470283145CDH23c.9801C>G (p.Arg3267=)
c.3734C>G (n.3734C>G)
c.3293C>G (n.3293C>G)
c.9816C>G (p.Arg3272=)
c.3081C>G (p.Arg1027=)
n.3232C>G
c.2976C>G (p.Arg992=)
c.492C>G (p.Arg164=)
c.387C>G (p.Arg129=)
c.9996C>G (p.Arg3332=)
c.9930C>G (p.Arg3310=)
c.9993C>G (p.Arg3331=)
c.9990C>G (p.Arg3330=)
c.9936C>G (p.Arg3312=)
c.9906C>G (p.Arg3302=)
c.9891C>G (p.Arg3297=)
c.9861C>G (p.Arg3287=)
c.9456C>G (p.Arg3152=)
c.8814C>G (p.Arg2938=)
c.6324C>G (p.Arg2108=)
10g.71815014C>TCA470283142CDH23c.9801C>T (p.Arg3267=)
c.3734C>T (n.3734C>T)
c.3293C>T (n.3293C>T)
c.9816C>T (p.Arg3272=)
c.3081C>T (p.Arg1027=)
n.3232C>T
c.2976C>T (p.Arg992=)
c.492C>T (p.Arg164=)
c.387C>T (p.Arg129=)
c.9996C>T (p.Arg3332=)
c.9930C>T (p.Arg3310=)
c.9993C>T (p.Arg3331=)
c.9990C>T (p.Arg3330=)
c.9936C>T (p.Arg3312=)
c.9906C>T (p.Arg3302=)
c.9891C>T (p.Arg3297=)
c.9861C>T (p.Arg3287=)
c.9456C>T (p.Arg3152=)
c.8814C>T (p.Arg2938=)
c.6324C>T (p.Arg2108=)
 dbSNP gnomAD v4
10g.71815015T>ACA377138032CDH23c.9802T>A (p.Phe3268Ile)
c.3735T>A (n.3735T>A)
c.3294T>A (n.3294T>A)
c.9817T>A (p.Phe3273Ile)
c.3082T>A (p.Phe1028Ile)
n.3233T>A
c.2977T>A (p.Phe993Ile)
c.493T>A (p.Phe165Ile)
c.388T>A (p.Phe130Ile)
c.9997T>A (p.Phe3333Ile)
c.9931T>A (p.Phe3311Ile)
c.9994T>A (p.Phe3332Ile)
c.9991T>A (p.Phe3331Ile)
c.9937T>A (p.Phe3313Ile)
c.9907T>A (p.Phe3303Ile)
c.9892T>A (p.Phe3298Ile)
c.9862T>A (p.Phe3288Ile)
c.9457T>A (p.Phe3153Ile)
c.8815T>A (p.Phe2939Ile)
c.6325T>A (p.Phe2109Ile)
10g.71815015T>CCA377138034CDH23c.9802T>C (p.Phe3268Leu)
c.3735T>C (n.3735T>C)
c.3294T>C (n.3294T>C)
c.9817T>C (p.Phe3273Leu)
c.3082T>C (p.Phe1028Leu)
n.3233T>C
c.2977T>C (p.Phe993Leu)
c.493T>C (p.Phe165Leu)
c.388T>C (p.Phe130Leu)
c.9997T>C (p.Phe3333Leu)
c.9931T>C (p.Phe3311Leu)
c.9994T>C (p.Phe3332Leu)
c.9991T>C (p.Phe3331Leu)
c.9937T>C (p.Phe3313Leu)
c.9907T>C (p.Phe3303Leu)
c.9892T>C (p.Phe3298Leu)
c.9862T>C (p.Phe3288Leu)
c.9457T>C (p.Phe3153Leu)
c.8815T>C (p.Phe2939Leu)
c.6325T>C (p.Phe2109Leu)
10g.71815015T>GCA377138036CDH23c.9802T>G (p.Phe3268Val)
c.3735T>G (n.3735T>G)
c.3294T>G (n.3294T>G)
c.9817T>G (p.Phe3273Val)
c.3082T>G (p.Phe1028Val)
n.3233T>G
c.2977T>G (p.Phe993Val)
c.493T>G (p.Phe165Val)
c.388T>G (p.Phe130Val)
c.9997T>G (p.Phe3333Val)
c.9931T>G (p.Phe3311Val)
c.9994T>G (p.Phe3332Val)
c.9991T>G (p.Phe3331Val)
c.9937T>G (p.Phe3313Val)
c.9907T>G (p.Phe3303Val)
c.9892T>G (p.Phe3298Val)
c.9862T>G (p.Phe3288Val)
c.9457T>G (p.Phe3153Val)
c.8815T>G (p.Phe2939Val)
c.6325T>G (p.Phe2109Val)
10g.71815015T=CA1918895564CDH23c.9802T= (p.Phe3268=)
c.3735T= (n.3735T=)
c.3294T= (n.3294T=)
c.9817T= (p.Phe3273=)
c.3082T= (p.Phe1028=)
n.3233T=
c.2977T= (p.Phe993=)
c.493T= (p.Phe165=)
c.388T= (p.Phe130=)
c.9997T= (p.Phe3333=)
c.9931T= (p.Phe3311=)
c.9994T= (p.Phe3332=)
c.9991T= (p.Phe3331=)
c.9937T= (p.Phe3313=)
c.9907T= (p.Phe3303=)
c.9892T= (p.Phe3298=)
c.9862T= (p.Phe3288=)
c.9457T= (p.Phe3153=)
c.8815T= (p.Phe2939=)
c.6325T= (p.Phe2109=)
10g.71815015_71815016insGGGCTGTGGTCTCCTGGCTCCTCGTCCAGCCA918704167CDH23c.9802_9803insGGGCTGTGGTCTCCTGGCTCCTCGTCCAGC (p.Phe3268delinsTrpAlaValValSerTrpLeuLeuValGlnLeu)
c.3735_3736insGGGCTGTGGTCTCCTGGCTCCTCGTCCAGC (n.3735_3736insGGGCTGTGGTCTCCTGGCTCCTCGTCCAGC)
c.3294_3295insGGGCTGTGGTCTCCTGGCTCCTCGTCCAGC (n.3294_3295insGGGCTGTGGTCTCCTGGCTCCTCGTCCAGC)
c.9817_9818insGGGCTGTGGTCTCCTGGCTCCTCGTCCAGC (p.Phe3273delinsTrpAlaValValSerTrpLeuLeuValGlnLeu)
c.3082_3083insGGGCTGTGGTCTCCTGGCTCCTCGTCCAGC (p.Phe1028delinsTrpAlaValValSerTrpLeuLeuValGlnLeu)
n.3233_3234insGGGCTGTGGTCTCCTGGCTCCTCGTCCAGC
c.2977_2978insGGGCTGTGGTCTCCTGGCTCCTCGTCCAGC (p.Phe993delinsTrpAlaValValSerTrpLeuLeuValGlnLeu)
c.493_494insGGGCTGTGGTCTCCTGGCTCCTCGTCCAGC (p.Phe165delinsTrpAlaValValSerTrpLeuLeuValGlnLeu)
c.388_389insGGGCTGTGGTCTCCTGGCTCCTCGTCCAGC (p.Phe130delinsTrpAlaValValSerTrpLeuLeuValGlnLeu)
c.9997_9998insGGGCTGTGGTCTCCTGGCTCCTCGTCCAGC (p.Phe3333delinsTrpAlaValValSerTrpLeuLeuValGlnLeu)
c.9931_9932insGGGCTGTGGTCTCCTGGCTCCTCGTCCAGC (p.Phe3311delinsTrpAlaValValSerTrpLeuLeuValGlnLeu)
c.9994_9995insGGGCTGTGGTCTCCTGGCTCCTCGTCCAGC (p.Phe3332delinsTrpAlaValValSerTrpLeuLeuValGlnLeu)
c.9991_9992insGGGCTGTGGTCTCCTGGCTCCTCGTCCAGC (p.Phe3331delinsTrpAlaValValSerTrpLeuLeuValGlnLeu)
c.9937_9938insGGGCTGTGGTCTCCTGGCTCCTCGTCCAGC (p.Phe3313delinsTrpAlaValValSerTrpLeuLeuValGlnLeu)
c.9907_9908insGGGCTGTGGTCTCCTGGCTCCTCGTCCAGC (p.Phe3303delinsTrpAlaValValSerTrpLeuLeuValGlnLeu)
c.9892_9893insGGGCTGTGGTCTCCTGGCTCCTCGTCCAGC (p.Phe3298delinsTrpAlaValValSerTrpLeuLeuValGlnLeu)
c.9862_9863insGGGCTGTGGTCTCCTGGCTCCTCGTCCAGC (p.Phe3288delinsTrpAlaValValSerTrpLeuLeuValGlnLeu)
c.9457_9458insGGGCTGTGGTCTCCTGGCTCCTCGTCCAGC (p.Phe3153delinsTrpAlaValValSerTrpLeuLeuValGlnLeu)
c.8815_8816insGGGCTGTGGTCTCCTGGCTCCTCGTCCAGC (p.Phe2939delinsTrpAlaValValSerTrpLeuLeuValGlnLeu)
c.6325_6326insGGGCTGTGGTCTCCTGGCTCCTCGTCCAGC (p.Phe2109delinsTrpAlaValValSerTrpLeuLeuValGlnLeu)
 dbSNP
10g.71815016T>ACA377138038CDH23c.9803T>A (p.Phe3268Tyr)
c.3736T>A (n.3736T>A)
c.3295T>A (n.3295T>A)
c.9818T>A (p.Phe3273Tyr)
c.3083T>A (p.Phe1028Tyr)
n.3234T>A
c.2978T>A (p.Phe993Tyr)
c.494T>A (p.Phe165Tyr)
c.389T>A (p.Phe130Tyr)
c.9998T>A (p.Phe3333Tyr)
c.9932T>A (p.Phe3311Tyr)
c.9995T>A (p.Phe3332Tyr)
c.9992T>A (p.Phe3331Tyr)
c.9938T>A (p.Phe3313Tyr)
c.9908T>A (p.Phe3303Tyr)
c.9893T>A (p.Phe3298Tyr)
c.9863T>A (p.Phe3288Tyr)
c.9458T>A (p.Phe3153Tyr)
c.8816T>A (p.Phe2939Tyr)
c.6326T>A (p.Phe2109Tyr)
10g.71815016T>CCA377138040CDH23c.9803T>C (p.Phe3268Ser)
c.3736T>C (n.3736T>C)
c.3295T>C (n.3295T>C)
c.9818T>C (p.Phe3273Ser)
c.3083T>C (p.Phe1028Ser)
n.3234T>C
c.2978T>C (p.Phe993Ser)
c.494T>C (p.Phe165Ser)
c.389T>C (p.Phe130Ser)
c.9998T>C (p.Phe3333Ser)
c.9932T>C (p.Phe3311Ser)
c.9995T>C (p.Phe3332Ser)
c.9992T>C (p.Phe3331Ser)
c.9938T>C (p.Phe3313Ser)
c.9908T>C (p.Phe3303Ser)
c.9893T>C (p.Phe3298Ser)
c.9863T>C (p.Phe3288Ser)
c.9458T>C (p.Phe3153Ser)
c.8816T>C (p.Phe2939Ser)
c.6326T>C (p.Phe2109Ser)
10g.71815016T>GCA377138042CDH23c.9803T>G (p.Phe3268Cys)
c.3736T>G (n.3736T>G)
c.3295T>G (n.3295T>G)
c.9818T>G (p.Phe3273Cys)
c.3083T>G (p.Phe1028Cys)
n.3234T>G
c.2978T>G (p.Phe993Cys)
c.494T>G (p.Phe165Cys)
c.389T>G (p.Phe130Cys)
c.9998T>G (p.Phe3333Cys)
c.9932T>G (p.Phe3311Cys)
c.9995T>G (p.Phe3332Cys)
c.9992T>G (p.Phe3331Cys)
c.9938T>G (p.Phe3313Cys)
c.9908T>G (p.Phe3303Cys)
c.9893T>G (p.Phe3298Cys)
c.9863T>G (p.Phe3288Cys)
c.9458T>G (p.Phe3153Cys)
c.8816T>G (p.Phe2939Cys)
c.6326T>G (p.Phe2109Cys)
10g.71815016_71815020delinsTCCGCCA1918895568CDH23c.9803_9807delinsTCCGC (p.Phe3268=)
c.3736_3740delinsTCCGC (n.3736_3740delinsTCCGC)
c.3295_3299delinsTCCGC (n.3295_3299delinsTCCGC)
c.9818_9822delinsTCCGC (p.Phe3273=)
c.3083_3087delinsTCCGC (p.Phe1028=)
n.3234_3238delinsTCCGC
c.2978_2982delinsTCCGC (p.Phe993=)
c.494_498delinsTCCGC (p.Phe165=)
c.389_393delinsTCCGC (p.Phe130=)
c.9998_10002delinsTCCGC (p.Phe3333=)
c.9932_9936delinsTCCGC (p.Phe3311=)
c.9995_9999delinsTCCGC (p.Phe3332=)
c.9992_9996delinsTCCGC (p.Phe3331=)
c.9938_9942delinsTCCGC (p.Phe3313=)
c.9908_9912delinsTCCGC (p.Phe3303=)
c.9893_9897delinsTCCGC (p.Phe3298=)
c.9863_9867delinsTCCGC (p.Phe3288=)
c.9458_9462delinsTCCGC (p.Phe3153=)
c.8816_8820delinsTCCGC (p.Phe2939=)
c.6326_6330delinsTCCGC (p.Phe2109=)
10g.71815017C>ACA377138046CDH23c.9804C>A (p.Phe3268Leu)
c.3737C>A (n.3737C>A)
c.3296C>A (n.3296C>A)
c.9819C>A (p.Phe3273Leu)
c.3084C>A (p.Phe1028Leu)
n.3235C>A
c.2979C>A (p.Phe993Leu)
c.495C>A (p.Phe165Leu)
c.390C>A (p.Phe130Leu)
c.9999C>A (p.Phe3333Leu)
c.9933C>A (p.Phe3311Leu)
c.9996C>A (p.Phe3332Leu)
c.9993C>A (p.Phe3331Leu)
c.9939C>A (p.Phe3313Leu)
c.9909C>A (p.Phe3303Leu)
c.9894C>A (p.Phe3298Leu)
c.9864C>A (p.Phe3288Leu)
c.9459C>A (p.Phe3153Leu)
c.8817C>A (p.Phe2939Leu)
c.6327C>A (p.Phe2109Leu)
10g.71815017C>GCA377138045CDH23c.9804C>G (p.Phe3268Leu)
c.3737C>G (n.3737C>G)
c.3296C>G (n.3296C>G)
c.9819C>G (p.Phe3273Leu)
c.3084C>G (p.Phe1028Leu)
n.3235C>G
c.2979C>G (p.Phe993Leu)
c.495C>G (p.Phe165Leu)
c.390C>G (p.Phe130Leu)
c.9999C>G (p.Phe3333Leu)
c.9933C>G (p.Phe3311Leu)
c.9996C>G (p.Phe3332Leu)
c.9993C>G (p.Phe3331Leu)
c.9939C>G (p.Phe3313Leu)
c.9909C>G (p.Phe3303Leu)
c.9894C>G (p.Phe3298Leu)
c.9864C>G (p.Phe3288Leu)
c.9459C>G (p.Phe3153Leu)
c.8817C>G (p.Phe2939Leu)
c.6327C>G (p.Phe2109Leu)
10g.71815017C>TCA470283149CDH23c.9804C>T (p.Phe3268=)
c.3737C>T (n.3737C>T)
c.3296C>T (n.3296C>T)
c.9819C>T (p.Phe3273=)
c.3084C>T (p.Phe1028=)
n.3235C>T
c.2979C>T (p.Phe993=)
c.495C>T (p.Phe165=)
c.390C>T (p.Phe130=)
c.9999C>T (p.Phe3333=)
c.9933C>T (p.Phe3311=)
c.9996C>T (p.Phe3332=)
c.9993C>T (p.Phe3331=)
c.9939C>T (p.Phe3313=)
c.9909C>T (p.Phe3303=)
c.9894C>T (p.Phe3298=)
c.9864C>T (p.Phe3288=)
c.9459C>T (p.Phe3153=)
c.8817C>T (p.Phe2939=)
c.6327C>T (p.Phe2109=)
 dbSNP COSMIC
10g.71815018_71815021delCA668127759CDH23c.9805_9808del (p.Arg3269ThrfsTer?)
c.3738_3741del (n.3738_3741del)
c.3297_3300del (n.3297_3300del)
c.9820_9823del (p.Arg3274ThrfsTer?)
c.3085_3088del (p.Arg1029ThrfsTer?)
n.3236_3239del
c.2980_2983del (p.Arg994ThrfsTer?)
c.496_499del (p.Arg166ThrfsTer?)
c.391_394del (p.Arg131ThrfsTer?)
c.10000_10003del (p.Arg3334ThrfsTer?)
c.9934_9937del (p.Arg3312ThrfsTer?)
c.9997_10000del (p.Arg3333ThrfsTer?)
c.9994_9997del (p.Arg3332ThrfsTer?)
c.9940_9943del (p.Arg3314ThrfsTer?)
c.9910_9913del (p.Arg3304ThrfsTer?)
c.9895_9898del (p.Arg3299ThrfsTer?)
c.9865_9868del (p.Arg3289ThrfsTer?)
c.9460_9463del (p.Arg3154ThrfsTer?)
c.8818_8821del (p.Arg2940ThrfsTer?)
c.6328_6331del (p.Arg2110ThrfsTer?)
 dbSNP gnomAD v3 gnomAD v4
10g.71815018C>ACA377138048CDH23c.9805C>A (p.Arg3269Ser)
c.3738C>A (n.3738C>A)
c.3297C>A (n.3297C>A)
c.9820C>A (p.Arg3274Ser)
c.3085C>A (p.Arg1029Ser)
n.3236C>A
c.2980C>A (p.Arg994Ser)
c.496C>A (p.Arg166Ser)
c.391C>A (p.Arg131Ser)
c.10000C>A (p.Arg3334Ser)
c.9934C>A (p.Arg3312Ser)
c.9997C>A (p.Arg3333Ser)
c.9994C>A (p.Arg3332Ser)
c.9940C>A (p.Arg3314Ser)
c.9910C>A (p.Arg3304Ser)
c.9895C>A (p.Arg3299Ser)
c.9865C>A (p.Arg3289Ser)
c.9460C>A (p.Arg3154Ser)
c.8818C>A (p.Arg2940Ser)
c.6328C>A (p.Arg2110Ser)
 gnomAD v4
10g.71815018C=CA1918895574CDH23c.9805C= (p.Arg3269=)
c.3738C= (n.3738C=)
c.3297C= (n.3297C=)
c.9820C= (p.Arg3274=)
c.3085C= (p.Arg1029=)
n.3236C=
c.2980C= (p.Arg994=)
c.496C= (p.Arg166=)
c.391C= (p.Arg131=)
c.10000C= (p.Arg3334=)
c.9934C= (p.Arg3312=)
c.9997C= (p.Arg3333=)
c.9994C= (p.Arg3332=)
c.9940C= (p.Arg3314=)
c.9910C= (p.Arg3304=)
c.9895C= (p.Arg3299=)
c.9865C= (p.Arg3289=)
c.9460C= (p.Arg3154=)
c.8818C= (p.Arg2940=)
c.6328C= (p.Arg2110=)
10g.71815018C>GCA377138050CDH23c.9805C>G (p.Arg3269Gly)
c.3738C>G (n.3738C>G)
c.3297C>G (n.3297C>G)
c.9820C>G (p.Arg3274Gly)
c.3085C>G (p.Arg1029Gly)
n.3236C>G
c.2980C>G (p.Arg994Gly)
c.496C>G (p.Arg166Gly)
c.391C>G (p.Arg131Gly)
c.10000C>G (p.Arg3334Gly)
c.9934C>G (p.Arg3312Gly)
c.9997C>G (p.Arg3333Gly)
c.9994C>G (p.Arg3332Gly)
c.9940C>G (p.Arg3314Gly)
c.9910C>G (p.Arg3304Gly)
c.9895C>G (p.Arg3299Gly)
c.9865C>G (p.Arg3289Gly)
c.9460C>G (p.Arg3154Gly)
c.8818C>G (p.Arg2940Gly)
c.6328C>G (p.Arg2110Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71815018C>TCA5547180CDH23c.9805C>T (p.Arg3269Cys)
c.3738C>T (n.3738C>T)
c.3297C>T (n.3297C>T)
c.9820C>T (p.Arg3274Cys)
c.3085C>T (p.Arg1029Cys)
n.3236C>T
c.2980C>T (p.Arg994Cys)
c.496C>T (p.Arg166Cys)
c.391C>T (p.Arg131Cys)
c.10000C>T (p.Arg3334Cys)
c.9934C>T (p.Arg3312Cys)
c.9997C>T (p.Arg3333Cys)
c.9994C>T (p.Arg3332Cys)
c.9940C>T (p.Arg3314Cys)
c.9910C>T (p.Arg3304Cys)
c.9895C>T (p.Arg3299Cys)
c.9865C>T (p.Arg3289Cys)
c.9460C>T (p.Arg3154Cys)
c.8818C>T (p.Arg2940Cys)
c.6328C>T (p.Arg2110Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815019G>ACA5547181CDH23c.9806G>A (p.Arg3269His)
c.3739G>A (n.3739G>A)
c.3298G>A (n.3298G>A)
c.9821G>A (p.Arg3274His)
c.3086G>A (p.Arg1029His)
n.3237G>A
c.2981G>A (p.Arg994His)
c.497G>A (p.Arg166His)
c.392G>A (p.Arg131His)
c.10001G>A (p.Arg3334His)
c.9935G>A (p.Arg3312His)
c.9998G>A (p.Arg3333His)
c.9995G>A (p.Arg3332His)
c.9941G>A (p.Arg3314His)
c.9911G>A (p.Arg3304His)
c.9896G>A (p.Arg3299His)
c.9866G>A (p.Arg3289His)
c.9461G>A (p.Arg3154His)
c.8819G>A (p.Arg2940His)
c.6329G>A (p.Arg2110His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71815019G>CCA377138054CDH23c.9806G>C (p.Arg3269Pro)
c.3739G>C (n.3739G>C)
c.3298G>C (n.3298G>C)
c.9821G>C (p.Arg3274Pro)
c.3086G>C (p.Arg1029Pro)
n.3237G>C
c.2981G>C (p.Arg994Pro)
c.497G>C (p.Arg166Pro)
c.392G>C (p.Arg131Pro)
c.10001G>C (p.Arg3334Pro)
c.9935G>C (p.Arg3312Pro)
c.9998G>C (p.Arg3333Pro)
c.9995G>C (p.Arg3332Pro)
c.9941G>C (p.Arg3314Pro)
c.9911G>C (p.Arg3304Pro)
c.9896G>C (p.Arg3299Pro)
c.9866G>C (p.Arg3289Pro)
c.9461G>C (p.Arg3154Pro)
c.8819G>C (p.Arg2940Pro)
c.6329G>C (p.Arg2110Pro)
 dbSNP
10g.71815019G=CA1918895581CDH23c.9806G= (p.Arg3269=)
c.3739G= (n.3739G=)
c.3298G= (n.3298G=)
c.9821G= (p.Arg3274=)
c.3086G= (p.Arg1029=)
n.3237G=
c.2981G= (p.Arg994=)
c.497G= (p.Arg166=)
c.392G= (p.Arg131=)
c.10001G= (p.Arg3334=)
c.9935G= (p.Arg3312=)
c.9998G= (p.Arg3333=)
c.9995G= (p.Arg3332=)
c.9941G= (p.Arg3314=)
c.9911G= (p.Arg3304=)
c.9896G= (p.Arg3299=)
c.9866G= (p.Arg3289=)
c.9461G= (p.Arg3154=)
c.8819G= (p.Arg2940=)
c.6329G= (p.Arg2110=)
10g.71815019G>TCA377138055CDH23c.9806G>T (p.Arg3269Leu)
c.3739G>T (n.3739G>T)
c.3298G>T (n.3298G>T)
c.9821G>T (p.Arg3274Leu)
c.3086G>T (p.Arg1029Leu)
n.3237G>T
c.2981G>T (p.Arg994Leu)
c.497G>T (p.Arg166Leu)
c.392G>T (p.Arg131Leu)
c.10001G>T (p.Arg3334Leu)
c.9935G>T (p.Arg3312Leu)
c.9998G>T (p.Arg3333Leu)
c.9995G>T (p.Arg3332Leu)
c.9941G>T (p.Arg3314Leu)
c.9911G>T (p.Arg3304Leu)
c.9896G>T (p.Arg3299Leu)
c.9866G>T (p.Arg3289Leu)
c.9461G>T (p.Arg3154Leu)
c.8819G>T (p.Arg2940Leu)
c.6329G>T (p.Arg2110Leu)
 ClinVar dbSNP
10g.71815020C>ACA470283154CDH23c.9807C>A (p.Arg3269=)
c.3740C>A (n.3740C>A)
c.3299C>A (n.3299C>A)
c.9822C>A (p.Arg3274=)
c.3087C>A (p.Arg1029=)
n.3238C>A
c.2982C>A (p.Arg994=)
c.498C>A (p.Arg166=)
c.393C>A (p.Arg131=)
c.10002C>A (p.Arg3334=)
c.9936C>A (p.Arg3312=)
c.9999C>A (p.Arg3333=)
c.9996C>A (p.Arg3332=)
c.9942C>A (p.Arg3314=)
c.9912C>A (p.Arg3304=)
c.9897C>A (p.Arg3299=)
c.9867C>A (p.Arg3289=)
c.9462C>A (p.Arg3154=)
c.8820C>A (p.Arg2940=)
c.6330C>A (p.Arg2110=)
10g.71815020C=CA1918895585CDH23c.9807C= (p.Arg3269=)
c.3740C= (n.3740C=)
c.3299C= (n.3299C=)
c.9822C= (p.Arg3274=)
c.3087C= (p.Arg1029=)
n.3238C=
c.2982C= (p.Arg994=)
c.498C= (p.Arg166=)
c.393C= (p.Arg131=)
c.10002C= (p.Arg3334=)
c.9936C= (p.Arg3312=)
c.9999C= (p.Arg3333=)
c.9996C= (p.Arg3332=)
c.9942C= (p.Arg3314=)
c.9912C= (p.Arg3304=)
c.9897C= (p.Arg3299=)
c.9867C= (p.Arg3289=)
c.9462C= (p.Arg3154=)
c.8820C= (p.Arg2940=)
c.6330C= (p.Arg2110=)
10g.71815020C>GCA470283157CDH23c.9807C>G (p.Arg3269=)
c.3740C>G (n.3740C>G)
c.3299C>G (n.3299C>G)
c.9822C>G (p.Arg3274=)
c.3087C>G (p.Arg1029=)
n.3238C>G
c.2982C>G (p.Arg994=)
c.498C>G (p.Arg166=)
c.393C>G (p.Arg131=)
c.10002C>G (p.Arg3334=)
c.9936C>G (p.Arg3312=)
c.9999C>G (p.Arg3333=)
c.9996C>G (p.Arg3332=)
c.9942C>G (p.Arg3314=)
c.9912C>G (p.Arg3304=)
c.9897C>G (p.Arg3299=)
c.9867C>G (p.Arg3289=)
c.9462C>G (p.Arg3154=)
c.8820C>G (p.Arg2940=)
c.6330C>G (p.Arg2110=)
10g.71815020C>TCA470283156CDH23c.9807C>T (p.Arg3269=)
c.3740C>T (n.3740C>T)
c.3299C>T (n.3299C>T)
c.9822C>T (p.Arg3274=)
c.3087C>T (p.Arg1029=)
n.3238C>T
c.2982C>T (p.Arg994=)
c.498C>T (p.Arg166=)
c.393C>T (p.Arg131=)
c.10002C>T (p.Arg3334=)
c.9936C>T (p.Arg3312=)
c.9999C>T (p.Arg3333=)
c.9996C>T (p.Arg3332=)
c.9942C>T (p.Arg3314=)
c.9912C>T (p.Arg3304=)
c.9897C>T (p.Arg3299=)
c.9867C>T (p.Arg3289=)
c.9462C>T (p.Arg3154=)
c.8820C>T (p.Arg2940=)
c.6330C>T (p.Arg2110=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71815021C>ACA377138058CDH23c.9808C>A (p.His3270Asn)
c.3741C>A (n.3741C>A)
c.3300C>A (n.3300C>A)
c.9823C>A (p.His3275Asn)
c.3088C>A (p.His1030Asn)
n.3239C>A
c.2983C>A (p.His995Asn)
c.499C>A (p.His167Asn)
c.394C>A (p.His132Asn)
c.10003C>A (p.His3335Asn)
c.9937C>A (p.His3313Asn)
c.10000C>A (p.His3334Asn)
c.9997C>A (p.His3333Asn)
c.9943C>A (p.His3315Asn)
c.9913C>A (p.His3305Asn)
c.9898C>A (p.His3300Asn)
c.9868C>A (p.His3290Asn)
c.9463C>A (p.His3155Asn)
c.8821C>A (p.His2941Asn)
c.6331C>A (p.His2111Asn)
10g.71815021C>GCA377138060CDH23c.9808C>G (p.His3270Asp)
c.3741C>G (n.3741C>G)
c.3300C>G (n.3300C>G)
c.9823C>G (p.His3275Asp)
c.3088C>G (p.His1030Asp)
n.3239C>G
c.2983C>G (p.His995Asp)
c.499C>G (p.His167Asp)
c.394C>G (p.His132Asp)
c.10003C>G (p.His3335Asp)
c.9937C>G (p.His3313Asp)
c.10000C>G (p.His3334Asp)
c.9997C>G (p.His3333Asp)
c.9943C>G (p.His3315Asp)
c.9913C>G (p.His3305Asp)
c.9898C>G (p.His3300Asp)
c.9868C>G (p.His3290Asp)
c.9463C>G (p.His3155Asp)
c.8821C>G (p.His2941Asp)
c.6331C>G (p.His2111Asp)
10g.71815021C>TCA377138061CDH23c.9808C>T (p.His3270Tyr)
c.3741C>T (n.3741C>T)
c.3300C>T (n.3300C>T)
c.9823C>T (p.His3275Tyr)
c.3088C>T (p.His1030Tyr)
n.3239C>T
c.2983C>T (p.His995Tyr)
c.499C>T (p.His167Tyr)
c.394C>T (p.His132Tyr)
c.10003C>T (p.His3335Tyr)
c.9937C>T (p.His3313Tyr)
c.10000C>T (p.His3334Tyr)
c.9997C>T (p.His3333Tyr)
c.9943C>T (p.His3315Tyr)
c.9913C>T (p.His3305Tyr)
c.9898C>T (p.His3300Tyr)
c.9868C>T (p.His3290Tyr)
c.9463C>T (p.His3155Tyr)
c.8821C>T (p.His2941Tyr)
c.6331C>T (p.His2111Tyr)
10g.71815022A>CCA377138064CDH23c.9809A>C (p.His3270Pro)
c.3742A>C (n.3742A>C)
c.3301A>C (n.3301A>C)
c.9824A>C (p.His3275Pro)
c.3089A>C (p.His1030Pro)
n.3240A>C
c.2984A>C (p.His995Pro)
c.500A>C (p.His167Pro)
c.395A>C (p.His132Pro)
c.10004A>C (p.His3335Pro)
c.9938A>C (p.His3313Pro)
c.10001A>C (p.His3334Pro)
c.9998A>C (p.His3333Pro)
c.9944A>C (p.His3315Pro)
c.9914A>C (p.His3305Pro)
c.9899A>C (p.His3300Pro)
c.9869A>C (p.His3290Pro)
c.9464A>C (p.His3155Pro)
c.8822A>C (p.His2941Pro)
c.6332A>C (p.His2111Pro)
 dbSNP
10g.71815022A>GCA377138066CDH23c.9809A>G (p.His3270Arg)
c.3742A>G (n.3742A>G)
c.3301A>G (n.3301A>G)
c.9824A>G (p.His3275Arg)
c.3089A>G (p.His1030Arg)
n.3240A>G
c.2984A>G (p.His995Arg)
c.500A>G (p.His167Arg)
c.395A>G (p.His132Arg)
c.10004A>G (p.His3335Arg)
c.9938A>G (p.His3313Arg)
c.10001A>G (p.His3334Arg)
c.9998A>G (p.His3333Arg)
c.9944A>G (p.His3315Arg)
c.9914A>G (p.His3305Arg)
c.9899A>G (p.His3300Arg)
c.9869A>G (p.His3290Arg)
c.9464A>G (p.His3155Arg)
c.8822A>G (p.His2941Arg)
c.6332A>G (p.His2111Arg)
10g.71815022A>TCA377138068CDH23c.9809A>T (p.His3270Leu)
c.3742A>T (n.3742A>T)
c.3301A>T (n.3301A>T)
c.9824A>T (p.His3275Leu)
c.3089A>T (p.His1030Leu)
n.3240A>T
c.2984A>T (p.His995Leu)
c.500A>T (p.His167Leu)
c.395A>T (p.His132Leu)
c.10004A>T (p.His3335Leu)
c.9938A>T (p.His3313Leu)
c.10001A>T (p.His3334Leu)
c.9998A>T (p.His3333Leu)
c.9944A>T (p.His3315Leu)
c.9914A>T (p.His3305Leu)
c.9899A>T (p.His3300Leu)
c.9869A>T (p.His3290Leu)
c.9464A>T (p.His3155Leu)
c.8822A>T (p.His2941Leu)
c.6332A>T (p.His2111Leu)
10g.71815023C>ACA377138071CDH23c.9810C>A (p.His3270Gln)
c.3743C>A (n.3743C>A)
c.3302C>A (n.3302C>A)
c.9825C>A (p.His3275Gln)
c.3090C>A (p.His1030Gln)
n.3241C>A
c.2985C>A (p.His995Gln)
c.501C>A (p.His167Gln)
c.396C>A (p.His132Gln)
c.10005C>A (p.His3335Gln)
c.9939C>A (p.His3313Gln)
c.10002C>A (p.His3334Gln)
c.9999C>A (p.His3333Gln)
c.9945C>A (p.His3315Gln)
c.9915C>A (p.His3305Gln)
c.9900C>A (p.His3300Gln)
c.9870C>A (p.His3290Gln)
c.9465C>A (p.His3155Gln)
c.8823C>A (p.His2941Gln)
c.6333C>A (p.His2111Gln)
10g.71815023C=CA1918895588CDH23c.9810C= (p.His3270=)
c.3743C= (n.3743C=)
c.3302C= (n.3302C=)
c.9825C= (p.His3275=)
c.3090C= (p.His1030=)
n.3241C=
c.2985C= (p.His995=)
c.501C= (p.His167=)
c.396C= (p.His132=)
c.10005C= (p.His3335=)
c.9939C= (p.His3313=)
c.10002C= (p.His3334=)
c.9999C= (p.His3333=)
c.9945C= (p.His3315=)
c.9915C= (p.His3305=)
c.9900C= (p.His3300=)
c.9870C= (p.His3290=)
c.9465C= (p.His3155=)
c.8823C= (p.His2941=)
c.6333C= (p.His2111=)
10g.71815023C>GCA377138070CDH23c.9810C>G (p.His3270Gln)
c.3743C>G (n.3743C>G)
c.3302C>G (n.3302C>G)
c.9825C>G (p.His3275Gln)
c.3090C>G (p.His1030Gln)
n.3241C>G
c.2985C>G (p.His995Gln)
c.501C>G (p.His167Gln)
c.396C>G (p.His132Gln)
c.10005C>G (p.His3335Gln)
c.9939C>G (p.His3313Gln)
c.10002C>G (p.His3334Gln)
c.9999C>G (p.His3333Gln)
c.9945C>G (p.His3315Gln)
c.9915C>G (p.His3305Gln)
c.9900C>G (p.His3300Gln)
c.9870C>G (p.His3290Gln)
c.9465C>G (p.His3155Gln)
c.8823C>G (p.His2941Gln)
c.6333C>G (p.His2111Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71815023C>TCA470283160CDH23c.9810C>T (p.His3270=)
c.3743C>T (n.3743C>T)
c.3302C>T (n.3302C>T)
c.9825C>T (p.His3275=)
c.3090C>T (p.His1030=)
n.3241C>T
c.2985C>T (p.His995=)
c.501C>T (p.His167=)
c.396C>T (p.His132=)
c.10005C>T (p.His3335=)
c.9939C>T (p.His3313=)
c.10002C>T (p.His3334=)
c.9999C>T (p.His3333=)
c.9945C>T (p.His3315=)
c.9915C>T (p.His3305=)
c.9900C>T (p.His3300=)
c.9870C>T (p.His3290=)
c.9465C>T (p.His3155=)
c.8823C>T (p.His2941=)
c.6333C>T (p.His2111=)
 ClinVar dbSNP
10g.71815024A>CCA377138074CDH23c.9811A>C (p.Lys3271Gln)
c.3744A>C (n.3744A>C)
c.3303A>C (n.3303A>C)
c.9826A>C (p.Lys3276Gln)
c.3091A>C (p.Lys1031Gln)
n.3242A>C
c.2986A>C (p.Lys996Gln)
c.502A>C (p.Lys168Gln)
c.397A>C (p.Lys133Gln)
c.10006A>C (p.Lys3336Gln)
c.9940A>C (p.Lys3314Gln)
c.10003A>C (p.Lys3335Gln)
c.10000A>C (p.Lys3334Gln)
c.9946A>C (p.Lys3316Gln)
c.9916A>C (p.Lys3306Gln)
c.9901A>C (p.Lys3301Gln)
c.9871A>C (p.Lys3291Gln)
c.9466A>C (p.Lys3156Gln)
c.8824A>C (p.Lys2942Gln)
c.6334A>C (p.Lys2112Gln)
10g.71815024A>GCA377138076CDH23c.9811A>G (p.Lys3271Glu)
c.3744A>G (n.3744A>G)
c.3303A>G (n.3303A>G)
c.9826A>G (p.Lys3276Glu)
c.3091A>G (p.Lys1031Glu)
n.3242A>G
c.2986A>G (p.Lys996Glu)
c.502A>G (p.Lys168Glu)
c.397A>G (p.Lys133Glu)
c.10006A>G (p.Lys3336Glu)
c.9940A>G (p.Lys3314Glu)
c.10003A>G (p.Lys3335Glu)
c.10000A>G (p.Lys3334Glu)
c.9946A>G (p.Lys3316Glu)
c.9916A>G (p.Lys3306Glu)
c.9901A>G (p.Lys3301Glu)
c.9871A>G (p.Lys3291Glu)
c.9466A>G (p.Lys3156Glu)
c.8824A>G (p.Lys2942Glu)
c.6334A>G (p.Lys2112Glu)
10g.71815024A>TCA377138078CDH23c.9811A>T (p.Lys3271Ter)
c.3744A>T (n.3744A>T)
c.3303A>T (n.3303A>T)
c.9826A>T (p.Lys3276Ter)
c.3091A>T (p.Lys1031Ter)
n.3242A>T
c.2986A>T (p.Lys996Ter)
c.502A>T (p.Lys168Ter)
c.397A>T (p.Lys133Ter)
c.10006A>T (p.Lys3336Ter)
c.9940A>T (p.Lys3314Ter)
c.10003A>T (p.Lys3335Ter)
c.10000A>T (p.Lys3334Ter)
c.9946A>T (p.Lys3316Ter)
c.9916A>T (p.Lys3306Ter)
c.9901A>T (p.Lys3301Ter)
c.9871A>T (p.Lys3291Ter)
c.9466A>T (p.Lys3156Ter)
c.8824A>T (p.Lys2942Ter)
c.6334A>T (p.Lys2112Ter)
10g.71815025A=CA1918895591CDH23c.9812A= (p.Lys3271=)
c.3745A= (n.3745A=)
c.3304A= (n.3304A=)
c.9827A= (p.Lys3276=)
c.3092A= (p.Lys1031=)
n.3243A=
c.2987A= (p.Lys996=)
c.503A= (p.Lys168=)
c.398A= (p.Lys133=)
c.10007A= (p.Lys3336=)
c.9941A= (p.Lys3314=)
c.10004A= (p.Lys3335=)
c.10001A= (p.Lys3334=)
c.9947A= (p.Lys3316=)
c.9917A= (p.Lys3306=)
c.9902A= (p.Lys3301=)
c.9872A= (p.Lys3291=)
c.9467A= (p.Lys3156=)
c.8825A= (p.Lys2942=)
c.6335A= (p.Lys2112=)
10g.71815025A>CCA377138080CDH23c.9812A>C (p.Lys3271Thr)
c.3745A>C (n.3745A>C)
c.3304A>C (n.3304A>C)
c.9827A>C (p.Lys3276Thr)
c.3092A>C (p.Lys1031Thr)
n.3243A>C
c.2987A>C (p.Lys996Thr)
c.503A>C (p.Lys168Thr)
c.398A>C (p.Lys133Thr)
c.10007A>C (p.Lys3336Thr)
c.9941A>C (p.Lys3314Thr)
c.10004A>C (p.Lys3335Thr)
c.10001A>C (p.Lys3334Thr)
c.9947A>C (p.Lys3316Thr)
c.9917A>C (p.Lys3306Thr)
c.9902A>C (p.Lys3301Thr)
c.9872A>C (p.Lys3291Thr)
c.9467A>C (p.Lys3156Thr)
c.8825A>C (p.Lys2942Thr)
c.6335A>C (p.Lys2112Thr)
10g.71815025A>GCA5547182CDH23c.9812A>G (p.Lys3271Arg)
c.3745A>G (n.3745A>G)
c.3304A>G (n.3304A>G)
c.9827A>G (p.Lys3276Arg)
c.3092A>G (p.Lys1031Arg)
n.3243A>G
c.2987A>G (p.Lys996Arg)
c.503A>G (p.Lys168Arg)
c.398A>G (p.Lys133Arg)
c.10007A>G (p.Lys3336Arg)
c.9941A>G (p.Lys3314Arg)
c.10004A>G (p.Lys3335Arg)
c.10001A>G (p.Lys3334Arg)
c.9947A>G (p.Lys3316Arg)
c.9917A>G (p.Lys3306Arg)
c.9902A>G (p.Lys3301Arg)
c.9872A>G (p.Lys3291Arg)
c.9467A>G (p.Lys3156Arg)
c.8825A>G (p.Lys2942Arg)
c.6335A>G (p.Lys2112Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815025A>TCA377138083CDH23c.9812A>T (p.Lys3271Met)
c.3745A>T (n.3745A>T)
c.3304A>T (n.3304A>T)
c.9827A>T (p.Lys3276Met)
c.3092A>T (p.Lys1031Met)
n.3243A>T
c.2987A>T (p.Lys996Met)
c.503A>T (p.Lys168Met)
c.398A>T (p.Lys133Met)
c.10007A>T (p.Lys3336Met)
c.9941A>T (p.Lys3314Met)
c.10004A>T (p.Lys3335Met)
c.10001A>T (p.Lys3334Met)
c.9947A>T (p.Lys3316Met)
c.9917A>T (p.Lys3306Met)
c.9902A>T (p.Lys3301Met)
c.9872A>T (p.Lys3291Met)
c.9467A>T (p.Lys3156Met)
c.8825A>T (p.Lys2942Met)
c.6335A>T (p.Lys2112Met)
10g.71815026G>ACA470283166CDH23c.9813G>A (p.Lys3271=)
c.3746G>A (n.3746G>A)
c.3305G>A (n.3305G>A)
c.9828G>A (p.Lys3276=)
c.3093G>A (p.Lys1031=)
n.3244G>A
c.2988G>A (p.Lys996=)
c.504G>A (p.Lys168=)
c.399G>A (p.Lys133=)
c.10008G>A (p.Lys3336=)
c.9942G>A (p.Lys3314=)
c.10005G>A (p.Lys3335=)
c.10002G>A (p.Lys3334=)
c.9948G>A (p.Lys3316=)
c.9918G>A (p.Lys3306=)
c.9903G>A (p.Lys3301=)
c.9873G>A (p.Lys3291=)
c.9468G>A (p.Lys3156=)
c.8826G>A (p.Lys2942=)
c.6336G>A (p.Lys2112=)
 ClinVar dbSNP
10g.71815026G>CCA377138087CDH23c.9813G>C (p.Lys3271Asn)
c.3746G>C (n.3746G>C)
c.3305G>C (n.3305G>C)
c.9828G>C (p.Lys3276Asn)
c.3093G>C (p.Lys1031Asn)
n.3244G>C
c.2988G>C (p.Lys996Asn)
c.504G>C (p.Lys168Asn)
c.399G>C (p.Lys133Asn)
c.10008G>C (p.Lys3336Asn)
c.9942G>C (p.Lys3314Asn)
c.10005G>C (p.Lys3335Asn)
c.10002G>C (p.Lys3334Asn)
c.9948G>C (p.Lys3316Asn)
c.9918G>C (p.Lys3306Asn)
c.9903G>C (p.Lys3301Asn)
c.9873G>C (p.Lys3291Asn)
c.9468G>C (p.Lys3156Asn)
c.8826G>C (p.Lys2942Asn)
c.6336G>C (p.Lys2112Asn)
10g.71815026G>TCA377138085CDH23c.9813G>T (p.Lys3271Asn)
c.3746G>T (n.3746G>T)
c.3305G>T (n.3305G>T)
c.9828G>T (p.Lys3276Asn)
c.3093G>T (p.Lys1031Asn)
n.3244G>T
c.2988G>T (p.Lys996Asn)
c.504G>T (p.Lys168Asn)
c.399G>T (p.Lys133Asn)
c.10008G>T (p.Lys3336Asn)
c.9942G>T (p.Lys3314Asn)
c.10005G>T (p.Lys3335Asn)
c.10002G>T (p.Lys3334Asn)
c.9948G>T (p.Lys3316Asn)
c.9918G>T (p.Lys3306Asn)
c.9903G>T (p.Lys3301Asn)
c.9873G>T (p.Lys3291Asn)
c.9468G>T (p.Lys3156Asn)
c.8826G>T (p.Lys2942Asn)
c.6336G>T (p.Lys2112Asn)
10g.71815027C>ACA377138089CDH23c.9814C>A (p.Pro3272Thr)
c.3747C>A (n.3747C>A)
c.3306C>A (n.3306C>A)
c.9829C>A (p.Pro3277Thr)
c.3094C>A (p.Pro1032Thr)
n.3245C>A
c.2989C>A (p.Pro997Thr)
c.505C>A (p.Pro169Thr)
c.400C>A (p.Pro134Thr)
c.10009C>A (p.Pro3337Thr)
c.9943C>A (p.Pro3315Thr)
c.10006C>A (p.Pro3336Thr)
c.10003C>A (p.Pro3335Thr)
c.9949C>A (p.Pro3317Thr)
c.9919C>A (p.Pro3307Thr)
c.9904C>A (p.Pro3302Thr)
c.9874C>A (p.Pro3292Thr)
c.9469C>A (p.Pro3157Thr)
c.8827C>A (p.Pro2943Thr)
c.6337C>A (p.Pro2113Thr)
 dbSNP
10g.71815027C>GCA377138091CDH23c.9814C>G (p.Pro3272Ala)
c.3747C>G (n.3747C>G)
c.3306C>G (n.3306C>G)
c.9829C>G (p.Pro3277Ala)
c.3094C>G (p.Pro1032Ala)
n.3245C>G
c.2989C>G (p.Pro997Ala)
c.505C>G (p.Pro169Ala)
c.400C>G (p.Pro134Ala)
c.10009C>G (p.Pro3337Ala)
c.9943C>G (p.Pro3315Ala)
c.10006C>G (p.Pro3336Ala)
c.10003C>G (p.Pro3335Ala)
c.9949C>G (p.Pro3317Ala)
c.9919C>G (p.Pro3307Ala)
c.9904C>G (p.Pro3302Ala)
c.9874C>G (p.Pro3292Ala)
c.9469C>G (p.Pro3157Ala)
c.8827C>G (p.Pro2943Ala)
c.6337C>G (p.Pro2113Ala)
10g.71815027C>TCA377138093CDH23c.9814C>T (p.Pro3272Ser)
c.3747C>T (n.3747C>T)
c.3306C>T (n.3306C>T)
c.9829C>T (p.Pro3277Ser)
c.3094C>T (p.Pro1032Ser)
n.3245C>T
c.2989C>T (p.Pro997Ser)
c.505C>T (p.Pro169Ser)
c.400C>T (p.Pro134Ser)
c.10009C>T (p.Pro3337Ser)
c.9943C>T (p.Pro3315Ser)
c.10006C>T (p.Pro3336Ser)
c.10003C>T (p.Pro3335Ser)
c.9949C>T (p.Pro3317Ser)
c.9919C>T (p.Pro3307Ser)
c.9904C>T (p.Pro3302Ser)
c.9874C>T (p.Pro3292Ser)
c.9469C>T (p.Pro3157Ser)
c.8827C>T (p.Pro2943Ser)
c.6337C>T (p.Pro2113Ser)
 dbSNP
10g.71815028C>ACA377138095CDH23c.9815C>A (p.Pro3272Gln)
c.3748C>A (n.3748C>A)
c.3307C>A (n.3307C>A)
c.9830C>A (p.Pro3277Gln)
c.3095C>A (p.Pro1032Gln)
n.3246C>A
c.2990C>A (p.Pro997Gln)
c.506C>A (p.Pro169Gln)
c.401C>A (p.Pro134Gln)
c.10010C>A (p.Pro3337Gln)
c.9944C>A (p.Pro3315Gln)
c.10007C>A (p.Pro3336Gln)
c.10004C>A (p.Pro3335Gln)
c.9950C>A (p.Pro3317Gln)
c.9920C>A (p.Pro3307Gln)
c.9905C>A (p.Pro3302Gln)
c.9875C>A (p.Pro3292Gln)
c.9470C>A (p.Pro3157Gln)
c.8828C>A (p.Pro2943Gln)
c.6338C>A (p.Pro2113Gln)
10g.71815028C>GCA377138097CDH23c.9815C>G (p.Pro3272Arg)
c.3748C>G (n.3748C>G)
c.3307C>G (n.3307C>G)
c.9830C>G (p.Pro3277Arg)
c.3095C>G (p.Pro1032Arg)
n.3246C>G
c.2990C>G (p.Pro997Arg)
c.506C>G (p.Pro169Arg)
c.401C>G (p.Pro134Arg)
c.10010C>G (p.Pro3337Arg)
c.9944C>G (p.Pro3315Arg)
c.10007C>G (p.Pro3336Arg)
c.10004C>G (p.Pro3335Arg)
c.9950C>G (p.Pro3317Arg)
c.9920C>G (p.Pro3307Arg)
c.9905C>G (p.Pro3302Arg)
c.9875C>G (p.Pro3292Arg)
c.9470C>G (p.Pro3157Arg)
c.8828C>G (p.Pro2943Arg)
c.6338C>G (p.Pro2113Arg)
10g.71815028C>TCA377138099CDH23c.9815C>T (p.Pro3272Leu)
c.3748C>T (n.3748C>T)
c.3307C>T (n.3307C>T)
c.9830C>T (p.Pro3277Leu)
c.3095C>T (p.Pro1032Leu)
n.3246C>T
c.2990C>T (p.Pro997Leu)
c.506C>T (p.Pro169Leu)
c.401C>T (p.Pro134Leu)
c.10010C>T (p.Pro3337Leu)
c.9944C>T (p.Pro3315Leu)
c.10007C>T (p.Pro3336Leu)
c.10004C>T (p.Pro3335Leu)
c.9950C>T (p.Pro3317Leu)
c.9920C>T (p.Pro3307Leu)
c.9905C>T (p.Pro3302Leu)
c.9875C>T (p.Pro3292Leu)
c.9470C>T (p.Pro3157Leu)
c.8828C>T (p.Pro2943Leu)
c.6338C>T (p.Pro2113Leu)
10g.71815028_71815029insGCCTCA2507312426CDH23c.9815_9816insGCCT (p.Val3274ThrfsTer?)
c.3748_3749insGCCT (n.3748_3749insGCCT)
c.3307_3308insGCCT (n.3307_3308insGCCT)
c.9830_9831insGCCT (p.Val3279ThrfsTer?)
c.3095_3096insGCCT (p.Val1034ThrfsTer?)
n.3246_3247insGCCT
c.2990_2991insGCCT (p.Val999ThrfsTer?)
c.506_507insGCCT (p.Val171ThrfsTer?)
c.401_402insGCCT (p.Val136ThrfsTer?)
c.10010_10011insGCCT (p.Val3339ThrfsTer?)
c.9944_9945insGCCT (p.Val3317ThrfsTer?)
c.10007_10008insGCCT (p.Val3338ThrfsTer?)
c.10004_10005insGCCT (p.Val3337ThrfsTer?)
c.9950_9951insGCCT (p.Val3319ThrfsTer?)
c.9920_9921insGCCT (p.Val3309ThrfsTer?)
c.9905_9906insGCCT (p.Val3304ThrfsTer?)
c.9875_9876insGCCT (p.Val3294ThrfsTer?)
c.9470_9471insGCCT (p.Val3159ThrfsTer?)
c.8828_8829insGCCT (p.Val2945ThrfsTer?)
c.6338_6339insGCCT (p.Val2115ThrfsTer?)
10g.71815029A=CA1918895594CDH23c.9816A= (p.Pro3272=)
c.3749A= (n.3749A=)
c.3308A= (n.3308A=)
c.9831A= (p.Pro3277=)
c.3096A= (p.Pro1032=)
n.3247A=
c.2991A= (p.Pro997=)
c.507A= (p.Pro169=)
c.402A= (p.Pro134=)
c.10011A= (p.Pro3337=)
c.9945A= (p.Pro3315=)
c.10008A= (p.Pro3336=)
c.10005A= (p.Pro3335=)
c.9951A= (p.Pro3317=)
c.9921A= (p.Pro3307=)
c.9906A= (p.Pro3302=)
c.9876A= (p.Pro3292=)
c.9471A= (p.Pro3157=)
c.8829A= (p.Pro2943=)
c.6339A= (p.Pro2113=)
10g.71815029A>CCA470283170CDH23c.9816A>C (p.Pro3272=)
c.3749A>C (n.3749A>C)
c.3308A>C (n.3308A>C)
c.9831A>C (p.Pro3277=)
c.3096A>C (p.Pro1032=)
n.3247A>C
c.2991A>C (p.Pro997=)
c.507A>C (p.Pro169=)
c.402A>C (p.Pro134=)
c.10011A>C (p.Pro3337=)
c.9945A>C (p.Pro3315=)
c.10008A>C (p.Pro3336=)
c.10005A>C (p.Pro3335=)
c.9951A>C (p.Pro3317=)
c.9921A>C (p.Pro3307=)
c.9906A>C (p.Pro3302=)
c.9876A>C (p.Pro3292=)
c.9471A>C (p.Pro3157=)
c.8829A>C (p.Pro2943=)
c.6339A>C (p.Pro2113=)
10g.71815029A>GCA209447641CDH23c.9816A>G (p.Pro3272=)
c.3749A>G (n.3749A>G)
c.3308A>G (n.3308A>G)
c.9831A>G (p.Pro3277=)
c.3096A>G (p.Pro1032=)
n.3247A>G
c.2991A>G (p.Pro997=)
c.507A>G (p.Pro169=)
c.402A>G (p.Pro134=)
c.10011A>G (p.Pro3337=)
c.9945A>G (p.Pro3315=)
c.10008A>G (p.Pro3336=)
c.10005A>G (p.Pro3335=)
c.9951A>G (p.Pro3317=)
c.9921A>G (p.Pro3307=)
c.9906A>G (p.Pro3302=)
c.9876A>G (p.Pro3292=)
c.9471A>G (p.Pro3157=)
c.8829A>G (p.Pro2943=)
c.6339A>G (p.Pro2113=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71815029A>TCA470283171CDH23c.9816A>T (p.Pro3272=)
c.3749A>T (n.3749A>T)
c.3308A>T (n.3308A>T)
c.9831A>T (p.Pro3277=)
c.3096A>T (p.Pro1032=)
n.3247A>T
c.2991A>T (p.Pro997=)
c.507A>T (p.Pro169=)
c.402A>T (p.Pro134=)
c.10011A>T (p.Pro3337=)
c.9945A>T (p.Pro3315=)
c.10008A>T (p.Pro3336=)
c.10005A>T (p.Pro3335=)
c.9951A>T (p.Pro3317=)
c.9921A>T (p.Pro3307=)
c.9906A>T (p.Pro3302=)
c.9876A>T (p.Pro3292=)
c.9471A>T (p.Pro3157=)
c.8829A>T (p.Pro2943=)
c.6339A>T (p.Pro2113=)
10g.71815030C>ACA5547183CDH23c.9817C>A (p.Pro3273Thr)
c.3750C>A (n.3750C>A)
c.3309C>A (n.3309C>A)
c.9832C>A (p.Pro3278Thr)
c.3097C>A (p.Pro1033Thr)
n.3248C>A
c.2992C>A (p.Pro998Thr)
c.508C>A (p.Pro170Thr)
c.403C>A (p.Pro135Thr)
c.10012C>A (p.Pro3338Thr)
c.9946C>A (p.Pro3316Thr)
c.10009C>A (p.Pro3337Thr)
c.10006C>A (p.Pro3336Thr)
c.9952C>A (p.Pro3318Thr)
c.9922C>A (p.Pro3308Thr)
c.9907C>A (p.Pro3303Thr)
c.9877C>A (p.Pro3293Thr)
c.9472C>A (p.Pro3158Thr)
c.8830C>A (p.Pro2944Thr)
c.6340C>A (p.Pro2114Thr)
 dbSNP ExAC gnomAD v2
10g.71815030C=CA1918895599CDH23c.9817C= (p.Pro3273=)
c.3750C= (n.3750C=)
c.3309C= (n.3309C=)
c.9832C= (p.Pro3278=)
c.3097C= (p.Pro1033=)
n.3248C=
c.2992C= (p.Pro998=)
c.508C= (p.Pro170=)
c.403C= (p.Pro135=)
c.10012C= (p.Pro3338=)
c.9946C= (p.Pro3316=)
c.10009C= (p.Pro3337=)
c.10006C= (p.Pro3336=)
c.9952C= (p.Pro3318=)
c.9922C= (p.Pro3308=)
c.9907C= (p.Pro3303=)
c.9877C= (p.Pro3293=)
c.9472C= (p.Pro3158=)
c.8830C= (p.Pro2944=)
c.6340C= (p.Pro2114=)
10g.71815030C>GCA377138104CDH23c.9817C>G (p.Pro3273Ala)
c.3750C>G (n.3750C>G)
c.3309C>G (n.3309C>G)
c.9832C>G (p.Pro3278Ala)
c.3097C>G (p.Pro1033Ala)
n.3248C>G
c.2992C>G (p.Pro998Ala)
c.508C>G (p.Pro170Ala)
c.403C>G (p.Pro135Ala)
c.10012C>G (p.Pro3338Ala)
c.9946C>G (p.Pro3316Ala)
c.10009C>G (p.Pro3337Ala)
c.10006C>G (p.Pro3336Ala)
c.9952C>G (p.Pro3318Ala)
c.9922C>G (p.Pro3308Ala)
c.9907C>G (p.Pro3303Ala)
c.9877C>G (p.Pro3293Ala)
c.9472C>G (p.Pro3158Ala)
c.8830C>G (p.Pro2944Ala)
c.6340C>G (p.Pro2114Ala)
10g.71815030C>TCA377138102CDH23c.9817C>T (p.Pro3273Ser)
c.3750C>T (n.3750C>T)
c.3309C>T (n.3309C>T)
c.9832C>T (p.Pro3278Ser)
c.3097C>T (p.Pro1033Ser)
n.3248C>T
c.2992C>T (p.Pro998Ser)
c.508C>T (p.Pro170Ser)
c.403C>T (p.Pro135Ser)
c.10012C>T (p.Pro3338Ser)
c.9946C>T (p.Pro3316Ser)
c.10009C>T (p.Pro3337Ser)
c.10006C>T (p.Pro3336Ser)
c.9952C>T (p.Pro3318Ser)
c.9922C>T (p.Pro3308Ser)
c.9907C>T (p.Pro3303Ser)
c.9877C>T (p.Pro3293Ser)
c.9472C>T (p.Pro3158Ser)
c.8830C>T (p.Pro2944Ser)
c.6340C>T (p.Pro2114Ser)
 dbSNP gnomAD v3 gnomAD v4
10g.71815031C>ACA377138107CDH23c.9818C>A (p.Pro3273Gln)
c.3751C>A (n.3751C>A)
c.3310C>A (n.3310C>A)
c.9833C>A (p.Pro3278Gln)
c.3098C>A (p.Pro1033Gln)
n.3249C>A
c.2993C>A (p.Pro998Gln)
c.509C>A (p.Pro170Gln)
c.404C>A (p.Pro135Gln)
c.10013C>A (p.Pro3338Gln)
c.9947C>A (p.Pro3316Gln)
c.10010C>A (p.Pro3337Gln)
c.10007C>A (p.Pro3336Gln)
c.9953C>A (p.Pro3318Gln)
c.9923C>A (p.Pro3308Gln)
c.9908C>A (p.Pro3303Gln)
c.9878C>A (p.Pro3293Gln)
c.9473C>A (p.Pro3158Gln)
c.8831C>A (p.Pro2944Gln)
c.6341C>A (p.Pro2114Gln)
10g.71815031C>GCA377138108CDH23c.9818C>G (p.Pro3273Arg)
c.3751C>G (n.3751C>G)
c.3310C>G (n.3310C>G)
c.9833C>G (p.Pro3278Arg)
c.3098C>G (p.Pro1033Arg)
n.3249C>G
c.2993C>G (p.Pro998Arg)
c.509C>G (p.Pro170Arg)
c.404C>G (p.Pro135Arg)
c.10013C>G (p.Pro3338Arg)
c.9947C>G (p.Pro3316Arg)
c.10010C>G (p.Pro3337Arg)
c.10007C>G (p.Pro3336Arg)
c.9953C>G (p.Pro3318Arg)
c.9923C>G (p.Pro3308Arg)
c.9908C>G (p.Pro3303Arg)
c.9878C>G (p.Pro3293Arg)
c.9473C>G (p.Pro3158Arg)
c.8831C>G (p.Pro2944Arg)
c.6341C>G (p.Pro2114Arg)
10g.71815031C>TCA377138110CDH23c.9818C>T (p.Pro3273Leu)
c.3751C>T (n.3751C>T)
c.3310C>T (n.3310C>T)
c.9833C>T (p.Pro3278Leu)
c.3098C>T (p.Pro1033Leu)
n.3249C>T
c.2993C>T (p.Pro998Leu)
c.509C>T (p.Pro170Leu)
c.404C>T (p.Pro135Leu)
c.10013C>T (p.Pro3338Leu)
c.9947C>T (p.Pro3316Leu)
c.10010C>T (p.Pro3337Leu)
c.10007C>T (p.Pro3336Leu)
c.9953C>T (p.Pro3318Leu)
c.9923C>T (p.Pro3308Leu)
c.9908C>T (p.Pro3303Leu)
c.9878C>T (p.Pro3293Leu)
c.9473C>T (p.Pro3158Leu)
c.8831C>T (p.Pro2944Leu)
c.6341C>T (p.Pro2114Leu)
10g.71815032A>CCA470283175CDH23c.9819A>C (p.Pro3273=)
c.3752A>C (n.3752A>C)
c.3311A>C (n.3311A>C)
c.9834A>C (p.Pro3278=)
c.3099A>C (p.Pro1033=)
n.3250A>C
c.2994A>C (p.Pro998=)
c.510A>C (p.Pro170=)
c.405A>C (p.Pro135=)
c.10014A>C (p.Pro3338=)
c.9948A>C (p.Pro3316=)
c.10011A>C (p.Pro3337=)
c.10008A>C (p.Pro3336=)
c.9954A>C (p.Pro3318=)
c.9924A>C (p.Pro3308=)
c.9909A>C (p.Pro3303=)
c.9879A>C (p.Pro3293=)
c.9474A>C (p.Pro3158=)
c.8832A>C (p.Pro2944=)
c.6342A>C (p.Pro2114=)
10g.71815032A>GCA470283176CDH23c.9819A>G (p.Pro3273=)
c.3752A>G (n.3752A>G)
c.3311A>G (n.3311A>G)
c.9834A>G (p.Pro3278=)
c.3099A>G (p.Pro1033=)
n.3250A>G
c.2994A>G (p.Pro998=)
c.510A>G (p.Pro170=)
c.405A>G (p.Pro135=)
c.10014A>G (p.Pro3338=)
c.9948A>G (p.Pro3316=)
c.10011A>G (p.Pro3337=)
c.10008A>G (p.Pro3336=)
c.9954A>G (p.Pro3318=)
c.9924A>G (p.Pro3308=)
c.9909A>G (p.Pro3303=)
c.9879A>G (p.Pro3293=)
c.9474A>G (p.Pro3158=)
c.8832A>G (p.Pro2944=)
c.6342A>G (p.Pro2114=)
10g.71815032A>TCA470283177CDH23c.9819A>T (p.Pro3273=)
c.3752A>T (n.3752A>T)
c.3311A>T (n.3311A>T)
c.9834A>T (p.Pro3278=)
c.3099A>T (p.Pro1033=)
n.3250A>T
c.2994A>T (p.Pro998=)
c.510A>T (p.Pro170=)
c.405A>T (p.Pro135=)
c.10014A>T (p.Pro3338=)
c.9948A>T (p.Pro3316=)
c.10011A>T (p.Pro3337=)
c.10008A>T (p.Pro3336=)
c.9954A>T (p.Pro3318=)
c.9924A>T (p.Pro3308=)
c.9909A>T (p.Pro3303=)
c.9879A>T (p.Pro3293=)
c.9474A>T (p.Pro3158=)
c.8832A>T (p.Pro2944=)
c.6342A>T (p.Pro2114=)
 gnomAD v4
10g.71815032_71815035delCA2552144874CDH23c.9819_9822del (p.Val3274SerfsTer?)
c.3752_3755del (n.3752_3755del)
c.3311_3314del (n.3311_3314del)
c.9834_9837del (p.Val3279SerfsTer?)
c.3099_3102del (p.Val1034SerfsTer?)
n.3250_3253del
c.2994_2997del (p.Val999SerfsTer?)
c.510_513del (p.Val171SerfsTer?)
c.405_408del (p.Val136SerfsTer?)
c.10014_10017del (p.Val3339SerfsTer?)
c.9948_9951del (p.Val3317SerfsTer?)
c.10011_10014del (p.Val3338SerfsTer?)
c.10008_10011del (p.Val3337SerfsTer?)
c.9954_9957del (p.Val3319SerfsTer?)
c.9924_9927del (p.Val3309SerfsTer?)
c.9909_9912del (p.Val3304SerfsTer?)
c.9879_9882del (p.Val3294SerfsTer?)
c.9474_9477del (p.Val3159SerfsTer?)
c.8832_8835del (p.Val2945SerfsTer?)
c.6342_6345del (p.Val2115SerfsTer?)
10g.71815033G>ACA377138113CDH23c.9820G>A (p.Val3274Met)
c.3753G>A (n.3753G>A)
c.3312G>A (n.3312G>A)
c.9835G>A (p.Val3279Met)
c.3100G>A (p.Val1034Met)
n.3251G>A
c.2995G>A (p.Val999Met)
c.511G>A (p.Val171Met)
c.406G>A (p.Val136Met)
c.10015G>A (p.Val3339Met)
c.9949G>A (p.Val3317Met)
c.10012G>A (p.Val3338Met)
c.10009G>A (p.Val3337Met)
c.9955G>A (p.Val3319Met)
c.9925G>A (p.Val3309Met)
c.9910G>A (p.Val3304Met)
c.9880G>A (p.Val3294Met)
c.9475G>A (p.Val3159Met)
c.8833G>A (p.Val2945Met)
c.6343G>A (p.Val2115Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71815033G>CCA377138114CDH23c.9820G>C (p.Val3274Leu)
c.3753G>C (n.3753G>C)
c.3312G>C (n.3312G>C)
c.9835G>C (p.Val3279Leu)
c.3100G>C (p.Val1034Leu)
n.3251G>C
c.2995G>C (p.Val999Leu)
c.511G>C (p.Val171Leu)
c.406G>C (p.Val136Leu)
c.10015G>C (p.Val3339Leu)
c.9949G>C (p.Val3317Leu)
c.10012G>C (p.Val3338Leu)
c.10009G>C (p.Val3337Leu)
c.9955G>C (p.Val3319Leu)
c.9925G>C (p.Val3309Leu)
c.9910G>C (p.Val3304Leu)
c.9880G>C (p.Val3294Leu)
c.9475G>C (p.Val3159Leu)
c.8833G>C (p.Val2945Leu)
c.6343G>C (p.Val2115Leu)
10g.71815033G=CA1918895602CDH23c.9820G= (p.Val3274=)
c.3753G= (n.3753G=)
c.3312G= (n.3312G=)
c.9835G= (p.Val3279=)
c.3100G= (p.Val1034=)
n.3251G=
c.2995G= (p.Val999=)
c.511G= (p.Val171=)
c.406G= (p.Val136=)
c.10015G= (p.Val3339=)
c.9949G= (p.Val3317=)
c.10012G= (p.Val3338=)
c.10009G= (p.Val3337=)
c.9955G= (p.Val3319=)
c.9925G= (p.Val3309=)
c.9910G= (p.Val3304=)
c.9880G= (p.Val3294=)
c.9475G= (p.Val3159=)
c.8833G= (p.Val2945=)
c.6343G= (p.Val2115=)
10g.71815033G>TCA377138116CDH23c.9820G>T (p.Val3274Leu)
c.3753G>T (n.3753G>T)
c.3312G>T (n.3312G>T)
c.9835G>T (p.Val3279Leu)
c.3100G>T (p.Val1034Leu)
n.3251G>T
c.2995G>T (p.Val999Leu)
c.511G>T (p.Val171Leu)
c.406G>T (p.Val136Leu)
c.10015G>T (p.Val3339Leu)
c.9949G>T (p.Val3317Leu)
c.10012G>T (p.Val3338Leu)
c.10009G>T (p.Val3337Leu)
c.9955G>T (p.Val3319Leu)
c.9925G>T (p.Val3309Leu)
c.9910G>T (p.Val3304Leu)
c.9880G>T (p.Val3294Leu)
c.9475G>T (p.Val3159Leu)
c.8833G>T (p.Val2945Leu)
c.6343G>T (p.Val2115Leu)
10g.71815034T>ACA377138118CDH23c.9821T>A (p.Val3274Glu)
c.3754T>A (n.3754T>A)
c.3313T>A (n.3313T>A)
c.9836T>A (p.Val3279Glu)
c.3101T>A (p.Val1034Glu)
n.3252T>A
c.2996T>A (p.Val999Glu)
c.512T>A (p.Val171Glu)
c.407T>A (p.Val136Glu)
c.10016T>A (p.Val3339Glu)
c.9950T>A (p.Val3317Glu)
c.10013T>A (p.Val3338Glu)
c.10010T>A (p.Val3337Glu)
c.9956T>A (p.Val3319Glu)
c.9926T>A (p.Val3309Glu)
c.9911T>A (p.Val3304Glu)
c.9881T>A (p.Val3294Glu)
c.9476T>A (p.Val3159Glu)
c.8834T>A (p.Val2945Glu)
c.6344T>A (p.Val2115Glu)
10g.71815034T>CCA377138120CDH23c.9821T>C (p.Val3274Ala)
c.3754T>C (n.3754T>C)
c.3313T>C (n.3313T>C)
c.9836T>C (p.Val3279Ala)
c.3101T>C (p.Val1034Ala)
n.3252T>C
c.2996T>C (p.Val999Ala)
c.512T>C (p.Val171Ala)
c.407T>C (p.Val136Ala)
c.10016T>C (p.Val3339Ala)
c.9950T>C (p.Val3317Ala)
c.10013T>C (p.Val3338Ala)
c.10010T>C (p.Val3337Ala)
c.9956T>C (p.Val3319Ala)
c.9926T>C (p.Val3309Ala)
c.9911T>C (p.Val3304Ala)
c.9881T>C (p.Val3294Ala)
c.9476T>C (p.Val3159Ala)
c.8834T>C (p.Val2945Ala)
c.6344T>C (p.Val2115Ala)
10g.71815034T>GCA377138121CDH23c.9821T>G (p.Val3274Gly)
c.3754T>G (n.3754T>G)
c.3313T>G (n.3313T>G)
c.9836T>G (p.Val3279Gly)
c.3101T>G (p.Val1034Gly)
n.3252T>G
c.2996T>G (p.Val999Gly)
c.512T>G (p.Val171Gly)
c.407T>G (p.Val136Gly)
c.10016T>G (p.Val3339Gly)
c.9950T>G (p.Val3317Gly)
c.10013T>G (p.Val3338Gly)
c.10010T>G (p.Val3337Gly)
c.9956T>G (p.Val3319Gly)
c.9926T>G (p.Val3309Gly)
c.9911T>G (p.Val3304Gly)
c.9881T>G (p.Val3294Gly)
c.9476T>G (p.Val3159Gly)
c.8834T>G (p.Val2945Gly)
c.6344T>G (p.Val2115Gly)
10g.71815035G>ACA470283181CDH23c.9822G>A (p.Val3274=)
c.3755G>A (n.3755G>A)
c.3314G>A (n.3314G>A)
c.9837G>A (p.Val3279=)
c.3102G>A (p.Val1034=)
n.3253G>A
c.2997G>A (p.Val999=)
c.513G>A (p.Val171=)
c.408G>A (p.Val136=)
c.10017G>A (p.Val3339=)
c.9951G>A (p.Val3317=)
c.10014G>A (p.Val3338=)
c.10011G>A (p.Val3337=)
c.9957G>A (p.Val3319=)
c.9927G>A (p.Val3309=)
c.9912G>A (p.Val3304=)
c.9882G>A (p.Val3294=)
c.9477G>A (p.Val3159=)
c.8835G>A (p.Val2945=)
c.6345G>A (p.Val2115=)
 gnomAD v4
10g.71815035G>CCA470283183CDH23c.9822G>C (p.Val3274=)
c.3755G>C (n.3755G>C)
c.3314G>C (n.3314G>C)
c.9837G>C (p.Val3279=)
c.3102G>C (p.Val1034=)
n.3253G>C
c.2997G>C (p.Val999=)
c.513G>C (p.Val171=)
c.408G>C (p.Val136=)
c.10017G>C (p.Val3339=)
c.9951G>C (p.Val3317=)
c.10014G>C (p.Val3338=)
c.10011G>C (p.Val3337=)
c.9957G>C (p.Val3319=)
c.9927G>C (p.Val3309=)
c.9912G>C (p.Val3304=)
c.9882G>C (p.Val3294=)
c.9477G>C (p.Val3159=)
c.8835G>C (p.Val2945=)
c.6345G>C (p.Val2115=)
10g.71815035G>TCA470283182CDH23c.9822G>T (p.Val3274=)
c.3755G>T (n.3755G>T)
c.3314G>T (n.3314G>T)
c.9837G>T (p.Val3279=)
c.3102G>T (p.Val1034=)
n.3253G>T
c.2997G>T (p.Val999=)
c.513G>T (p.Val171=)
c.408G>T (p.Val136=)
c.10017G>T (p.Val3339=)
c.9951G>T (p.Val3317=)
c.10014G>T (p.Val3338=)
c.10011G>T (p.Val3337=)
c.9957G>T (p.Val3319=)
c.9927G>T (p.Val3309=)
c.9912G>T (p.Val3304=)
c.9882G>T (p.Val3294=)
c.9477G>T (p.Val3159=)
c.8835G>T (p.Val2945=)
c.6345G>T (p.Val2115=)
10g.71815036G>ACA377138122CDH23c.9823G>A (p.Glu3275Lys)
c.3756G>A (n.3756G>A)
c.3315G>A (n.3315G>A)
c.9838G>A (p.Glu3280Lys)
c.3103G>A (p.Glu1035Lys)
n.3254G>A
c.2998G>A (p.Glu1000Lys)
c.514G>A (p.Glu172Lys)
c.409G>A (p.Glu137Lys)
c.10018G>A (p.Glu3340Lys)
c.9952G>A (p.Glu3318Lys)
c.10015G>A (p.Glu3339Lys)
c.10012G>A (p.Glu3338Lys)
c.9958G>A (p.Glu3320Lys)
c.9928G>A (p.Glu3310Lys)
c.9913G>A (p.Glu3305Lys)
c.9883G>A (p.Glu3295Lys)
c.9478G>A (p.Glu3160Lys)
c.8836G>A (p.Glu2946Lys)
c.6346G>A (p.Glu2116Lys)
10g.71815036G>CCA377138124CDH23c.9823G>C (p.Glu3275Gln)
c.3756G>C (n.3756G>C)
c.3315G>C (n.3315G>C)
c.9838G>C (p.Glu3280Gln)
c.3103G>C (p.Glu1035Gln)
n.3254G>C
c.2998G>C (p.Glu1000Gln)
c.514G>C (p.Glu172Gln)
c.409G>C (p.Glu137Gln)
c.10018G>C (p.Glu3340Gln)
c.9952G>C (p.Glu3318Gln)
c.10015G>C (p.Glu3339Gln)
c.10012G>C (p.Glu3338Gln)
c.9958G>C (p.Glu3320Gln)
c.9928G>C (p.Glu3310Gln)
c.9913G>C (p.Glu3305Gln)
c.9883G>C (p.Glu3295Gln)
c.9478G>C (p.Glu3160Gln)
c.8836G>C (p.Glu2946Gln)
c.6346G>C (p.Glu2116Gln)
10g.71815036G>TCA377138126CDH23c.9823G>T (p.Glu3275Ter)
c.3756G>T (n.3756G>T)
c.3315G>T (n.3315G>T)
c.9838G>T (p.Glu3280Ter)
c.3103G>T (p.Glu1035Ter)
n.3254G>T
c.2998G>T (p.Glu1000Ter)
c.514G>T (p.Glu172Ter)
c.409G>T (p.Glu137Ter)
c.10018G>T (p.Glu3340Ter)
c.9952G>T (p.Glu3318Ter)
c.10015G>T (p.Glu3339Ter)
c.10012G>T (p.Glu3338Ter)
c.9958G>T (p.Glu3320Ter)
c.9928G>T (p.Glu3310Ter)
c.9913G>T (p.Glu3305Ter)
c.9883G>T (p.Glu3295Ter)
c.9478G>T (p.Glu3160Ter)
c.8836G>T (p.Glu2946Ter)
c.6346G>T (p.Glu2116Ter)
10g.71815037A>CCA377138133CDH23c.9824A>C (p.Glu3275Ala)
c.3757A>C (n.3757A>C)
c.3316A>C (n.3316A>C)
c.9839A>C (p.Glu3280Ala)
c.3104A>C (p.Glu1035Ala)
n.3255A>C
c.2999A>C (p.Glu1000Ala)
c.515A>C (p.Glu172Ala)
c.410A>C (p.Glu137Ala)
c.10019A>C (p.Glu3340Ala)
c.9953A>C (p.Glu3318Ala)
c.10016A>C (p.Glu3339Ala)
c.10013A>C (p.Glu3338Ala)
c.9959A>C (p.Glu3320Ala)
c.9929A>C (p.Glu3310Ala)
c.9914A>C (p.Glu3305Ala)
c.9884A>C (p.Glu3295Ala)
c.9479A>C (p.Glu3160Ala)
c.8837A>C (p.Glu2946Ala)
c.6347A>C (p.Glu2116Ala)
10g.71815037A>GCA377138130CDH23c.9824A>G (p.Glu3275Gly)
c.3757A>G (n.3757A>G)
c.3316A>G (n.3316A>G)
c.9839A>G (p.Glu3280Gly)
c.3104A>G (p.Glu1035Gly)
n.3255A>G
c.2999A>G (p.Glu1000Gly)
c.515A>G (p.Glu172Gly)
c.410A>G (p.Glu137Gly)
c.10019A>G (p.Glu3340Gly)
c.9953A>G (p.Glu3318Gly)
c.10016A>G (p.Glu3339Gly)
c.10013A>G (p.Glu3338Gly)
c.9959A>G (p.Glu3320Gly)
c.9929A>G (p.Glu3310Gly)
c.9914A>G (p.Glu3305Gly)
c.9884A>G (p.Glu3295Gly)
c.9479A>G (p.Glu3160Gly)
c.8837A>G (p.Glu2946Gly)
c.6347A>G (p.Glu2116Gly)
10g.71815037A>TCA377138129CDH23c.9824A>T (p.Glu3275Val)
c.3757A>T (n.3757A>T)
c.3316A>T (n.3316A>T)
c.9839A>T (p.Glu3280Val)
c.3104A>T (p.Glu1035Val)
n.3255A>T
c.2999A>T (p.Glu1000Val)
c.515A>T (p.Glu172Val)
c.410A>T (p.Glu137Val)
c.10019A>T (p.Glu3340Val)
c.9953A>T (p.Glu3318Val)
c.10016A>T (p.Glu3339Val)
c.10013A>T (p.Glu3338Val)
c.9959A>T (p.Glu3320Val)
c.9929A>T (p.Glu3310Val)
c.9914A>T (p.Glu3305Val)
c.9884A>T (p.Glu3295Val)
c.9479A>T (p.Glu3160Val)
c.8837A>T (p.Glu2946Val)
c.6347A>T (p.Glu2116Val)
10g.71815038G>ACA470283191CDH23c.9825G>A (p.Glu3275=)
c.3758G>A (n.3758G>A)
c.3317G>A (n.3317G>A)
c.9840G>A (p.Glu3280=)
c.3105G>A (p.Glu1035=)
n.3256G>A
c.3000G>A (p.Glu1000=)
c.516G>A (p.Glu172=)
c.411G>A (p.Glu137=)
c.10020G>A (p.Glu3340=)
c.9954G>A (p.Glu3318=)
c.10017G>A (p.Glu3339=)
c.10014G>A (p.Glu3338=)
c.9960G>A (p.Glu3320=)
c.9930G>A (p.Glu3310=)
c.9915G>A (p.Glu3305=)
c.9885G>A (p.Glu3295=)
c.9480G>A (p.Glu3160=)
c.8838G>A (p.Glu2946=)
c.6348G>A (p.Glu2116=)
 ClinVar gnomAD v4
10g.71815038G>CCA377138137CDH23c.9825G>C (p.Glu3275Asp)
c.3758G>C (n.3758G>C)
c.3317G>C (n.3317G>C)
c.9840G>C (p.Glu3280Asp)
c.3105G>C (p.Glu1035Asp)
n.3256G>C
c.3000G>C (p.Glu1000Asp)
c.516G>C (p.Glu172Asp)
c.411G>C (p.Glu137Asp)
c.10020G>C (p.Glu3340Asp)
c.9954G>C (p.Glu3318Asp)
c.10017G>C (p.Glu3339Asp)
c.10014G>C (p.Glu3338Asp)
c.9960G>C (p.Glu3320Asp)
c.9930G>C (p.Glu3310Asp)
c.9915G>C (p.Glu3305Asp)
c.9885G>C (p.Glu3295Asp)
c.9480G>C (p.Glu3160Asp)
c.8838G>C (p.Glu2946Asp)
c.6348G>C (p.Glu2116Asp)
10g.71815038G>TCA377138135CDH23c.9825G>T (p.Glu3275Asp)
c.3758G>T (n.3758G>T)
c.3317G>T (n.3317G>T)
c.9840G>T (p.Glu3280Asp)
c.3105G>T (p.Glu1035Asp)
n.3256G>T
c.3000G>T (p.Glu1000Asp)
c.516G>T (p.Glu172Asp)
c.411G>T (p.Glu137Asp)
c.10020G>T (p.Glu3340Asp)
c.9954G>T (p.Glu3318Asp)
c.10017G>T (p.Glu3339Asp)
c.10014G>T (p.Glu3338Asp)
c.9960G>T (p.Glu3320Asp)
c.9930G>T (p.Glu3310Asp)
c.9915G>T (p.Glu3305Asp)
c.9885G>T (p.Glu3295Asp)
c.9480G>T (p.Glu3160Asp)
c.8838G>T (p.Glu2946Asp)
c.6348G>T (p.Glu2116Asp)
10g.71815039C>ACA377138143CDH23c.9826C>A (p.Leu3276Ile)
c.3759C>A (n.3759C>A)
c.3318C>A (n.3318C>A)
c.9841C>A (p.Leu3281Ile)
c.3106C>A (p.Leu1036Ile)
n.3257C>A
c.3001C>A (p.Leu1001Ile)
c.517C>A (p.Leu173Ile)
c.412C>A (p.Leu138Ile)
c.10021C>A (p.Leu3341Ile)
c.9955C>A (p.Leu3319Ile)
c.10018C>A (p.Leu3340Ile)
c.10015C>A (p.Leu3339Ile)
c.9961C>A (p.Leu3321Ile)
c.9931C>A (p.Leu3311Ile)
c.9916C>A (p.Leu3306Ile)
c.9886C>A (p.Leu3296Ile)
c.9481C>A (p.Leu3161Ile)
c.8839C>A (p.Leu2947Ile)
c.6349C>A (p.Leu2117Ile)
10g.71815039C>GCA377138139CDH23c.9826C>G (p.Leu3276Val)
c.3759C>G (n.3759C>G)
c.3318C>G (n.3318C>G)
c.9841C>G (p.Leu3281Val)
c.3106C>G (p.Leu1036Val)
n.3257C>G
c.3001C>G (p.Leu1001Val)
c.517C>G (p.Leu173Val)
c.412C>G (p.Leu138Val)
c.10021C>G (p.Leu3341Val)
c.9955C>G (p.Leu3319Val)
c.10018C>G (p.Leu3340Val)
c.10015C>G (p.Leu3339Val)
c.9961C>G (p.Leu3321Val)
c.9931C>G (p.Leu3311Val)
c.9916C>G (p.Leu3306Val)
c.9886C>G (p.Leu3296Val)
c.9481C>G (p.Leu3161Val)
c.8839C>G (p.Leu2947Val)
c.6349C>G (p.Leu2117Val)
10g.71815039C>TCA377138141CDH23c.9826C>T (p.Leu3276Phe)
c.3759C>T (n.3759C>T)
c.3318C>T (n.3318C>T)
c.9841C>T (p.Leu3281Phe)
c.3106C>T (p.Leu1036Phe)
n.3257C>T
c.3001C>T (p.Leu1001Phe)
c.517C>T (p.Leu173Phe)
c.412C>T (p.Leu138Phe)
c.10021C>T (p.Leu3341Phe)
c.9955C>T (p.Leu3319Phe)
c.10018C>T (p.Leu3340Phe)
c.10015C>T (p.Leu3339Phe)
c.9961C>T (p.Leu3321Phe)
c.9931C>T (p.Leu3311Phe)
c.9916C>T (p.Leu3306Phe)
c.9886C>T (p.Leu3296Phe)
c.9481C>T (p.Leu3161Phe)
c.8839C>T (p.Leu2947Phe)
c.6349C>T (p.Leu2117Phe)
 gnomAD v4
10g.71815040T>ACA377138145CDH23c.9827T>A (p.Leu3276His)
c.3760T>A (n.3760T>A)
c.3319T>A (n.3319T>A)
c.9842T>A (p.Leu3281His)
c.3107T>A (p.Leu1036His)
n.3258T>A
c.3002T>A (p.Leu1001His)
c.518T>A (p.Leu173His)
c.413T>A (p.Leu138His)
c.10022T>A (p.Leu3341His)
c.9956T>A (p.Leu3319His)
c.10019T>A (p.Leu3340His)
c.10016T>A (p.Leu3339His)
c.9962T>A (p.Leu3321His)
c.9932T>A (p.Leu3311His)
c.9917T>A (p.Leu3306His)
c.9887T>A (p.Leu3296His)
c.9482T>A (p.Leu3161His)
c.8840T>A (p.Leu2947His)
c.6350T>A (p.Leu2117His)
10g.71815040T>CCA377138147CDH23c.9827T>C (p.Leu3276Pro)
c.3760T>C (n.3760T>C)
c.3319T>C (n.3319T>C)
c.9842T>C (p.Leu3281Pro)
c.3107T>C (p.Leu1036Pro)
n.3258T>C
c.3002T>C (p.Leu1001Pro)
c.518T>C (p.Leu173Pro)
c.413T>C (p.Leu138Pro)
c.10022T>C (p.Leu3341Pro)
c.9956T>C (p.Leu3319Pro)
c.10019T>C (p.Leu3340Pro)
c.10016T>C (p.Leu3339Pro)
c.9962T>C (p.Leu3321Pro)
c.9932T>C (p.Leu3311Pro)
c.9917T>C (p.Leu3306Pro)
c.9887T>C (p.Leu3296Pro)
c.9482T>C (p.Leu3161Pro)
c.8840T>C (p.Leu2947Pro)
c.6350T>C (p.Leu2117Pro)
10g.71815040T>GCA377138149CDH23c.9827T>G (p.Leu3276Arg)
c.3760T>G (n.3760T>G)
c.3319T>G (n.3319T>G)
c.9842T>G (p.Leu3281Arg)
c.3107T>G (p.Leu1036Arg)
n.3258T>G
c.3002T>G (p.Leu1001Arg)
c.518T>G (p.Leu173Arg)
c.413T>G (p.Leu138Arg)
c.10022T>G (p.Leu3341Arg)
c.9956T>G (p.Leu3319Arg)
c.10019T>G (p.Leu3340Arg)
c.10016T>G (p.Leu3339Arg)
c.9962T>G (p.Leu3321Arg)
c.9932T>G (p.Leu3311Arg)
c.9917T>G (p.Leu3306Arg)
c.9887T>G (p.Leu3296Arg)
c.9482T>G (p.Leu3161Arg)
c.8840T>G (p.Leu2947Arg)
c.6350T>G (p.Leu2117Arg)
10g.71815041C>ACA470283193CDH23c.9828C>A (p.Leu3276=)
c.3761C>A (n.3761C>A)
c.3320C>A (n.3320C>A)
c.9843C>A (p.Leu3281=)
c.3108C>A (p.Leu1036=)
n.3259C>A
c.3003C>A (p.Leu1001=)
c.519C>A (p.Leu173=)
c.414C>A (p.Leu138=)
c.10023C>A (p.Leu3341=)
c.9957C>A (p.Leu3319=)
c.10020C>A (p.Leu3340=)
c.10017C>A (p.Leu3339=)
c.9963C>A (p.Leu3321=)
c.9933C>A (p.Leu3311=)
c.9918C>A (p.Leu3306=)
c.9888C>A (p.Leu3296=)
c.9483C>A (p.Leu3161=)
c.8841C>A (p.Leu2947=)
c.6351C>A (p.Leu2117=)
10g.71815041C=CA1918895605CDH23c.9828C= (p.Leu3276=)
c.3761C= (n.3761C=)
c.3320C= (n.3320C=)
c.9843C= (p.Leu3281=)
c.3108C= (p.Leu1036=)
n.3259C=
c.3003C= (p.Leu1001=)
c.519C= (p.Leu173=)
c.414C= (p.Leu138=)
c.10023C= (p.Leu3341=)
c.9957C= (p.Leu3319=)
c.10020C= (p.Leu3340=)
c.10017C= (p.Leu3339=)
c.9963C= (p.Leu3321=)
c.9933C= (p.Leu3311=)
c.9918C= (p.Leu3306=)
c.9888C= (p.Leu3296=)
c.9483C= (p.Leu3161=)
c.8841C= (p.Leu2947=)
c.6351C= (p.Leu2117=)
10g.71815041C>GCA470283194CDH23c.9828C>G (p.Leu3276=)
c.3761C>G (n.3761C>G)
c.3320C>G (n.3320C>G)
c.9843C>G (p.Leu3281=)
c.3108C>G (p.Leu1036=)
n.3259C>G
c.3003C>G (p.Leu1001=)
c.519C>G (p.Leu173=)
c.414C>G (p.Leu138=)
c.10023C>G (p.Leu3341=)
c.9957C>G (p.Leu3319=)
c.10020C>G (p.Leu3340=)
c.10017C>G (p.Leu3339=)
c.9963C>G (p.Leu3321=)
c.9933C>G (p.Leu3311=)
c.9918C>G (p.Leu3306=)
c.9888C>G (p.Leu3296=)
c.9483C>G (p.Leu3161=)
c.8841C>G (p.Leu2947=)
c.6351C>G (p.Leu2117=)
 gnomAD v4
10g.71815041C>TCA470283195CDH23c.9828C>T (p.Leu3276=)
c.3761C>T (n.3761C>T)
c.3320C>T (n.3320C>T)
c.9843C>T (p.Leu3281=)
c.3108C>T (p.Leu1036=)
n.3259C>T
c.3003C>T (p.Leu1001=)
c.519C>T (p.Leu173=)
c.414C>T (p.Leu138=)
c.10023C>T (p.Leu3341=)
c.9957C>T (p.Leu3319=)
c.10020C>T (p.Leu3340=)
c.10017C>T (p.Leu3339=)
c.9963C>T (p.Leu3321=)
c.9933C>T (p.Leu3311=)
c.9918C>T (p.Leu3306=)
c.9888C>T (p.Leu3296=)
c.9483C>T (p.Leu3161=)
c.8841C>T (p.Leu2947=)
c.6351C>T (p.Leu2117=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71815042A>CCA377138152CDH23c.9829A>C (p.Lys3277Gln)
c.3762A>C (n.3762A>C)
c.3321A>C (n.3321A>C)
c.9844A>C (p.Lys3282Gln)
c.3109A>C (p.Lys1037Gln)
n.3260A>C
c.3004A>C (p.Lys1002Gln)
c.520A>C (p.Lys174Gln)
c.415A>C (p.Lys139Gln)
c.10024A>C (p.Lys3342Gln)
c.9958A>C (p.Lys3320Gln)
c.10021A>C (p.Lys3341Gln)
c.10018A>C (p.Lys3340Gln)
c.9964A>C (p.Lys3322Gln)
c.9934A>C (p.Lys3312Gln)
c.9919A>C (p.Lys3307Gln)
c.9889A>C (p.Lys3297Gln)
c.9484A>C (p.Lys3162Gln)
c.8842A>C (p.Lys2948Gln)
c.6352A>C (p.Lys2118Gln)
 gnomAD v4
10g.71815042A>GCA377138153CDH23c.9829A>G (p.Lys3277Glu)
c.3762A>G (n.3762A>G)
c.3321A>G (n.3321A>G)
c.9844A>G (p.Lys3282Glu)
c.3109A>G (p.Lys1037Glu)
n.3260A>G
c.3004A>G (p.Lys1002Glu)
c.520A>G (p.Lys174Glu)
c.415A>G (p.Lys139Glu)
c.10024A>G (p.Lys3342Glu)
c.9958A>G (p.Lys3320Glu)
c.10021A>G (p.Lys3341Glu)
c.10018A>G (p.Lys3340Glu)
c.9964A>G (p.Lys3322Glu)
c.9934A>G (p.Lys3312Glu)
c.9919A>G (p.Lys3307Glu)
c.9889A>G (p.Lys3297Glu)
c.9484A>G (p.Lys3162Glu)
c.8842A>G (p.Lys2948Glu)
c.6352A>G (p.Lys2118Glu)
10g.71815042A>TCA377138155CDH23c.9829A>T (p.Lys3277Ter)
c.3762A>T (n.3762A>T)
c.3321A>T (n.3321A>T)
c.9844A>T (p.Lys3282Ter)
c.3109A>T (p.Lys1037Ter)
n.3260A>T
c.3004A>T (p.Lys1002Ter)
c.520A>T (p.Lys174Ter)
c.415A>T (p.Lys139Ter)
c.10024A>T (p.Lys3342Ter)
c.9958A>T (p.Lys3320Ter)
c.10021A>T (p.Lys3341Ter)
c.10018A>T (p.Lys3340Ter)
c.9964A>T (p.Lys3322Ter)
c.9934A>T (p.Lys3312Ter)
c.9919A>T (p.Lys3307Ter)
c.9889A>T (p.Lys3297Ter)
c.9484A>T (p.Lys3162Ter)
c.8842A>T (p.Lys2948Ter)
c.6352A>T (p.Lys2118Ter)
10g.71815043A>CCA377138157CDH23c.9830A>C (p.Lys3277Thr)
c.3763A>C (n.3763A>C)
c.3322A>C (n.3322A>C)
c.9845A>C (p.Lys3282Thr)
c.3110A>C (p.Lys1037Thr)
n.3261A>C
c.3005A>C (p.Lys1002Thr)
c.521A>C (p.Lys174Thr)
c.416A>C (p.Lys139Thr)
c.10025A>C (p.Lys3342Thr)
c.9959A>C (p.Lys3320Thr)
c.10022A>C (p.Lys3341Thr)
c.10019A>C (p.Lys3340Thr)
c.9965A>C (p.Lys3322Thr)
c.9935A>C (p.Lys3312Thr)
c.9920A>C (p.Lys3307Thr)
c.9890A>C (p.Lys3297Thr)
c.9485A>C (p.Lys3162Thr)
c.8843A>C (p.Lys2948Thr)
c.6353A>C (p.Lys2118Thr)
10g.71815043A>GCA377138159CDH23c.9830A>G (p.Lys3277Arg)
c.3763A>G (n.3763A>G)
c.3322A>G (n.3322A>G)
c.9845A>G (p.Lys3282Arg)
c.3110A>G (p.Lys1037Arg)
n.3261A>G
c.3005A>G (p.Lys1002Arg)
c.521A>G (p.Lys174Arg)
c.416A>G (p.Lys139Arg)
c.10025A>G (p.Lys3342Arg)
c.9959A>G (p.Lys3320Arg)
c.10022A>G (p.Lys3341Arg)
c.10019A>G (p.Lys3340Arg)
c.9965A>G (p.Lys3322Arg)
c.9935A>G (p.Lys3312Arg)
c.9920A>G (p.Lys3307Arg)
c.9890A>G (p.Lys3297Arg)
c.9485A>G (p.Lys3162Arg)
c.8843A>G (p.Lys2948Arg)
c.6353A>G (p.Lys2118Arg)
 gnomAD v4
10g.71815043A>TCA377138161CDH23c.9830A>T (p.Lys3277Met)
c.3763A>T (n.3763A>T)
c.3322A>T (n.3322A>T)
c.9845A>T (p.Lys3282Met)
c.3110A>T (p.Lys1037Met)
n.3261A>T
c.3005A>T (p.Lys1002Met)
c.521A>T (p.Lys174Met)
c.416A>T (p.Lys139Met)
c.10025A>T (p.Lys3342Met)
c.9959A>T (p.Lys3320Met)
c.10022A>T (p.Lys3341Met)
c.10019A>T (p.Lys3340Met)
c.9965A>T (p.Lys3322Met)
c.9935A>T (p.Lys3312Met)
c.9920A>T (p.Lys3307Met)
c.9890A>T (p.Lys3297Met)
c.9485A>T (p.Lys3162Met)
c.8843A>T (p.Lys2948Met)
c.6353A>T (p.Lys2118Met)
10g.71815044G>ACA470283199CDH23c.9831G>A (p.Lys3277=)
c.3764G>A (n.3764G>A)
c.3323G>A (n.3323G>A)
c.9846G>A (p.Lys3282=)
c.3111G>A (p.Lys1037=)
n.3262G>A
c.3006G>A (p.Lys1002=)
c.522G>A (p.Lys174=)
c.417G>A (p.Lys139=)
c.10026G>A (p.Lys3342=)
c.9960G>A (p.Lys3320=)
c.10023G>A (p.Lys3341=)
c.10020G>A (p.Lys3340=)
c.9966G>A (p.Lys3322=)
c.9936G>A (p.Lys3312=)
c.9921G>A (p.Lys3307=)
c.9891G>A (p.Lys3297=)
c.9486G>A (p.Lys3162=)
c.8844G>A (p.Lys2948=)
c.6354G>A (p.Lys2118=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71815044G>CCA377138163CDH23c.9831G>C (p.Lys3277Asn)
c.3764G>C (n.3764G>C)
c.3323G>C (n.3323G>C)
c.9846G>C (p.Lys3282Asn)
c.3111G>C (p.Lys1037Asn)
n.3262G>C
c.3006G>C (p.Lys1002Asn)
c.522G>C (p.Lys174Asn)
c.417G>C (p.Lys139Asn)
c.10026G>C (p.Lys3342Asn)
c.9960G>C (p.Lys3320Asn)
c.10023G>C (p.Lys3341Asn)
c.10020G>C (p.Lys3340Asn)
c.9966G>C (p.Lys3322Asn)
c.9936G>C (p.Lys3312Asn)
c.9921G>C (p.Lys3307Asn)
c.9891G>C (p.Lys3297Asn)
c.9486G>C (p.Lys3162Asn)
c.8844G>C (p.Lys2948Asn)
c.6354G>C (p.Lys2118Asn)
 gnomAD v4
10g.71815044G=CA1918895610CDH23c.9831G= (p.Lys3277=)
c.3764G= (n.3764G=)
c.3323G= (n.3323G=)
c.9846G= (p.Lys3282=)
c.3111G= (p.Lys1037=)
n.3262G=
c.3006G= (p.Lys1002=)
c.522G= (p.Lys174=)
c.417G= (p.Lys139=)
c.10026G= (p.Lys3342=)
c.9960G= (p.Lys3320=)
c.10023G= (p.Lys3341=)
c.10020G= (p.Lys3340=)
c.9966G= (p.Lys3322=)
c.9936G= (p.Lys3312=)
c.9921G= (p.Lys3307=)
c.9891G= (p.Lys3297=)
c.9486G= (p.Lys3162=)
c.8844G= (p.Lys2948=)
c.6354G= (p.Lys2118=)
10g.71815044G>TCA377138165CDH23c.9831G>T (p.Lys3277Asn)
c.3764G>T (n.3764G>T)
c.3323G>T (n.3323G>T)
c.9846G>T (p.Lys3282Asn)
c.3111G>T (p.Lys1037Asn)
n.3262G>T
c.3006G>T (p.Lys1002Asn)
c.522G>T (p.Lys174Asn)
c.417G>T (p.Lys139Asn)
c.10026G>T (p.Lys3342Asn)
c.9960G>T (p.Lys3320Asn)
c.10023G>T (p.Lys3341Asn)
c.10020G>T (p.Lys3340Asn)
c.9966G>T (p.Lys3322Asn)
c.9936G>T (p.Lys3312Asn)
c.9921G>T (p.Lys3307Asn)
c.9891G>T (p.Lys3297Asn)
c.9486G>T (p.Lys3162Asn)
c.8844G>T (p.Lys2948Asn)
c.6354G>T (p.Lys2118Asn)
 gnomAD v4
10g.71815045G>ACA377138167CDH23c.9832G>A (p.Gly3278Arg)
c.3765G>A (n.3765G>A)
c.3324G>A (n.3324G>A)
c.9847G>A (p.Gly3283Arg)
c.3112G>A (p.Gly1038Arg)
n.3263G>A
c.3007G>A (p.Gly1003Arg)
c.523G>A (p.Gly175Arg)
c.418G>A (p.Gly140Arg)
c.10027G>A (p.Gly3343Arg)
c.9961G>A (p.Gly3321Arg)
c.10024G>A (p.Gly3342Arg)
c.10021G>A (p.Gly3341Arg)
c.9967G>A (p.Gly3323Arg)
c.9937G>A (p.Gly3313Arg)
c.9922G>A (p.Gly3308Arg)
c.9892G>A (p.Gly3298Arg)
c.9487G>A (p.Gly3163Arg)
c.8845G>A (p.Gly2949Arg)
c.6355G>A (p.Gly2119Arg)
 ClinVar dbSNP
10g.71815045G>CCA377138171CDH23c.9832G>C (p.Gly3278Arg)
c.3765G>C (n.3765G>C)
c.3324G>C (n.3324G>C)
c.9847G>C (p.Gly3283Arg)
c.3112G>C (p.Gly1038Arg)
n.3263G>C
c.3007G>C (p.Gly1003Arg)
c.523G>C (p.Gly175Arg)
c.418G>C (p.Gly140Arg)
c.10027G>C (p.Gly3343Arg)
c.9961G>C (p.Gly3321Arg)
c.10024G>C (p.Gly3342Arg)
c.10021G>C (p.Gly3341Arg)
c.9967G>C (p.Gly3323Arg)
c.9937G>C (p.Gly3313Arg)
c.9922G>C (p.Gly3308Arg)
c.9892G>C (p.Gly3298Arg)
c.9487G>C (p.Gly3163Arg)
c.8845G>C (p.Gly2949Arg)
c.6355G>C (p.Gly2119Arg)
10g.71815045G=CA1918895618CDH23c.9832G= (p.Gly3278=)
c.3765G= (n.3765G=)
c.3324G= (n.3324G=)
c.9847G= (p.Gly3283=)
c.3112G= (p.Gly1038=)
n.3263G=
c.3007G= (p.Gly1003=)
c.523G= (p.Gly175=)
c.418G= (p.Gly140=)
c.10027G= (p.Gly3343=)
c.9961G= (p.Gly3321=)
c.10024G= (p.Gly3342=)
c.10021G= (p.Gly3341=)
c.9967G= (p.Gly3323=)
c.9937G= (p.Gly3313=)
c.9922G= (p.Gly3308=)
c.9892G= (p.Gly3298=)
c.9487G= (p.Gly3163=)
c.8845G= (p.Gly2949=)
c.6355G= (p.Gly2119=)
10g.71815045G>TCA377138169CDH23c.9832G>T (p.Gly3278Trp)
c.3765G>T (n.3765G>T)
c.3324G>T (n.3324G>T)
c.9847G>T (p.Gly3283Trp)
c.3112G>T (p.Gly1038Trp)
n.3263G>T
c.3007G>T (p.Gly1003Trp)
c.523G>T (p.Gly175Trp)
c.418G>T (p.Gly140Trp)
c.10027G>T (p.Gly3343Trp)
c.9961G>T (p.Gly3321Trp)
c.10024G>T (p.Gly3342Trp)
c.10021G>T (p.Gly3341Trp)
c.9967G>T (p.Gly3323Trp)
c.9937G>T (p.Gly3313Trp)
c.9922G>T (p.Gly3308Trp)
c.9892G>T (p.Gly3298Trp)
c.9487G>T (p.Gly3163Trp)
c.8845G>T (p.Gly2949Trp)
c.6355G>T (p.Gly2119Trp)
10g.71815046_71815051delCA2609588298CDH23c.9833_9838del (p.Gly3278_Pro3279del)
c.3766_3771del (n.3766_3771del)
c.3325_3330del (n.3325_3330del)
c.9848_9853del (p.Gly3283_Pro3284del)
c.3113_3118del (p.Gly1038_Pro1039del)
n.3264_3269del
c.3008_3013del (p.Gly1003_Pro1004del)
c.524_529del (p.Gly175_Pro176del)
c.419_424del (p.Gly140_Pro141del)
c.10028_10033del (p.Gly3343_Pro3344del)
c.9962_9967del (p.Gly3321_Pro3322del)
c.10025_10030del (p.Gly3342_Pro3343del)
c.10022_10027del (p.Gly3341_Pro3342del)
c.9968_9973del (p.Gly3323_Pro3324del)
c.9938_9943del (p.Gly3313_Pro3314del)
c.9923_9928del (p.Gly3308_Pro3309del)
c.9893_9898del (p.Gly3298_Pro3299del)
c.9488_9493del (p.Gly3163_Pro3164del)
c.8846_8851del (p.Gly2949_Pro2950del)
c.6356_6361del (p.Gly2119_Pro2120del)
 gnomAD v4
10g.71815046G>ACA377138173CDH23c.9833G>A (p.Gly3278Glu)
c.3766G>A (n.3766G>A)
c.3325G>A (n.3325G>A)
c.9848G>A (p.Gly3283Glu)
c.3113G>A (p.Gly1038Glu)
n.3264G>A
c.3008G>A (p.Gly1003Glu)
c.524G>A (p.Gly175Glu)
c.419G>A (p.Gly140Glu)
c.10028G>A (p.Gly3343Glu)
c.9962G>A (p.Gly3321Glu)
c.10025G>A (p.Gly3342Glu)
c.10022G>A (p.Gly3341Glu)
c.9968G>A (p.Gly3323Glu)
c.9938G>A (p.Gly3313Glu)
c.9923G>A (p.Gly3308Glu)
c.9893G>A (p.Gly3298Glu)
c.9488G>A (p.Gly3163Glu)
c.8846G>A (p.Gly2949Glu)
c.6356G>A (p.Gly2119Glu)
 dbSNP
10g.71815046G>CCA377138181CDH23c.9833G>C (p.Gly3278Ala)
c.3766G>C (n.3766G>C)
c.3325G>C (n.3325G>C)
c.9848G>C (p.Gly3283Ala)
c.3113G>C (p.Gly1038Ala)
n.3264G>C
c.3008G>C (p.Gly1003Ala)
c.524G>C (p.Gly175Ala)
c.419G>C (p.Gly140Ala)
c.10028G>C (p.Gly3343Ala)
c.9962G>C (p.Gly3321Ala)
c.10025G>C (p.Gly3342Ala)
c.10022G>C (p.Gly3341Ala)
c.9968G>C (p.Gly3323Ala)
c.9938G>C (p.Gly3313Ala)
c.9923G>C (p.Gly3308Ala)
c.9893G>C (p.Gly3298Ala)
c.9488G>C (p.Gly3163Ala)
c.8846G>C (p.Gly2949Ala)
c.6356G>C (p.Gly2119Ala)
10g.71815046G=CA1918895623CDH23c.9833G= (p.Gly3278=)
c.3766G= (n.3766G=)
c.3325G= (n.3325G=)
c.9848G= (p.Gly3283=)
c.3113G= (p.Gly1038=)
n.3264G=
c.3008G= (p.Gly1003=)
c.524G= (p.Gly175=)
c.419G= (p.Gly140=)
c.10028G= (p.Gly3343=)
c.9962G= (p.Gly3321=)
c.10025G= (p.Gly3342=)
c.10022G= (p.Gly3341=)
c.9968G= (p.Gly3323=)
c.9938G= (p.Gly3313=)
c.9923G= (p.Gly3308=)
c.9893G= (p.Gly3298=)
c.9488G= (p.Gly3163=)
c.8846G= (p.Gly2949=)
c.6356G= (p.Gly2119=)
10g.71815046G>TCA377138183CDH23c.9833G>T (p.Gly3278Val)
c.3766G>T (n.3766G>T)
c.3325G>T (n.3325G>T)
c.9848G>T (p.Gly3283Val)
c.3113G>T (p.Gly1038Val)
n.3264G>T
c.3008G>T (p.Gly1003Val)
c.524G>T (p.Gly175Val)
c.419G>T (p.Gly140Val)
c.10028G>T (p.Gly3343Val)
c.9962G>T (p.Gly3321Val)
c.10025G>T (p.Gly3342Val)
c.10022G>T (p.Gly3341Val)
c.9968G>T (p.Gly3323Val)
c.9938G>T (p.Gly3313Val)
c.9923G>T (p.Gly3308Val)
c.9893G>T (p.Gly3298Val)
c.9488G>T (p.Gly3163Val)
c.8846G>T (p.Gly2949Val)
c.6356G>T (p.Gly2119Val)
10g.71815047G>ACA470283200CDH23c.9834G>A (p.Gly3278=)
c.3767G>A (n.3767G>A)
c.3326G>A (n.3326G>A)
c.9849G>A (p.Gly3283=)
c.3114G>A (p.Gly1038=)
n.3265G>A
c.3009G>A (p.Gly1003=)
c.525G>A (p.Gly175=)
c.420G>A (p.Gly140=)
c.10029G>A (p.Gly3343=)
c.9963G>A (p.Gly3321=)
c.10026G>A (p.Gly3342=)
c.10023G>A (p.Gly3341=)
c.9969G>A (p.Gly3323=)
c.9939G>A (p.Gly3313=)
c.9924G>A (p.Gly3308=)
c.9894G>A (p.Gly3298=)
c.9489G>A (p.Gly3163=)
c.8847G>A (p.Gly2949=)
c.6357G>A (p.Gly2119=)
 ClinVar dbSNP
10g.71815047G>CCA470283201CDH23c.9834G>C (p.Gly3278=)
c.3767G>C (n.3767G>C)
c.3326G>C (n.3326G>C)
c.9849G>C (p.Gly3283=)
c.3114G>C (p.Gly1038=)
n.3265G>C
c.3009G>C (p.Gly1003=)
c.525G>C (p.Gly175=)
c.420G>C (p.Gly140=)
c.10029G>C (p.Gly3343=)
c.9963G>C (p.Gly3321=)
c.10026G>C (p.Gly3342=)
c.10023G>C (p.Gly3341=)
c.9969G>C (p.Gly3323=)
c.9939G>C (p.Gly3313=)
c.9924G>C (p.Gly3308=)
c.9894G>C (p.Gly3298=)
c.9489G>C (p.Gly3163=)
c.8847G>C (p.Gly2949=)
c.6357G>C (p.Gly2119=)
10g.71815047G>TCA470283202CDH23c.9834G>T (p.Gly3278=)
c.3767G>T (n.3767G>T)
c.3326G>T (n.3326G>T)
c.9849G>T (p.Gly3283=)
c.3114G>T (p.Gly1038=)
n.3265G>T
c.3009G>T (p.Gly1003=)
c.525G>T (p.Gly175=)
c.420G>T (p.Gly140=)
c.10029G>T (p.Gly3343=)
c.9963G>T (p.Gly3321=)
c.10026G>T (p.Gly3342=)
c.10023G>T (p.Gly3341=)
c.9969G>T (p.Gly3323=)
c.9939G>T (p.Gly3313=)
c.9924G>T (p.Gly3308=)
c.9894G>T (p.Gly3298=)
c.9489G>T (p.Gly3163=)
c.8847G>T (p.Gly2949=)
c.6357G>T (p.Gly2119=)
10g.71815048C>ACA377138185CDH23c.9835C>A (p.Pro3279Thr)
c.3768C>A (n.3768C>A)
c.3327C>A (n.3327C>A)
c.9850C>A (p.Pro3284Thr)
c.3115C>A (p.Pro1039Thr)
n.3266C>A
c.3010C>A (p.Pro1004Thr)
c.526C>A (p.Pro176Thr)
c.421C>A (p.Pro141Thr)
c.10030C>A (p.Pro3344Thr)
c.9964C>A (p.Pro3322Thr)
c.10027C>A (p.Pro3343Thr)
c.10024C>A (p.Pro3342Thr)
c.9970C>A (p.Pro3324Thr)
c.9940C>A (p.Pro3314Thr)
c.9925C>A (p.Pro3309Thr)
c.9895C>A (p.Pro3299Thr)
c.9490C>A (p.Pro3164Thr)
c.8848C>A (p.Pro2950Thr)
c.6358C>A (p.Pro2120Thr)
10g.71815048C>GCA377138187CDH23c.9835C>G (p.Pro3279Ala)
c.3768C>G (n.3768C>G)
c.3327C>G (n.3327C>G)
c.9850C>G (p.Pro3284Ala)
c.3115C>G (p.Pro1039Ala)
n.3266C>G
c.3010C>G (p.Pro1004Ala)
c.526C>G (p.Pro176Ala)
c.421C>G (p.Pro141Ala)
c.10030C>G (p.Pro3344Ala)
c.9964C>G (p.Pro3322Ala)
c.10027C>G (p.Pro3343Ala)
c.10024C>G (p.Pro3342Ala)
c.9970C>G (p.Pro3324Ala)
c.9940C>G (p.Pro3314Ala)
c.9925C>G (p.Pro3309Ala)
c.9895C>G (p.Pro3299Ala)
c.9490C>G (p.Pro3164Ala)
c.8848C>G (p.Pro2950Ala)
c.6358C>G (p.Pro2120Ala)
 dbSNP
10g.71815048C>TCA377138189CDH23c.9835C>T (p.Pro3279Ser)
c.3768C>T (n.3768C>T)
c.3327C>T (n.3327C>T)
c.9850C>T (p.Pro3284Ser)
c.3115C>T (p.Pro1039Ser)
n.3266C>T
c.3010C>T (p.Pro1004Ser)
c.526C>T (p.Pro176Ser)
c.421C>T (p.Pro141Ser)
c.10030C>T (p.Pro3344Ser)
c.9964C>T (p.Pro3322Ser)
c.10027C>T (p.Pro3343Ser)
c.10024C>T (p.Pro3342Ser)
c.9970C>T (p.Pro3324Ser)
c.9940C>T (p.Pro3314Ser)
c.9925C>T (p.Pro3309Ser)
c.9895C>T (p.Pro3299Ser)
c.9490C>T (p.Pro3164Ser)
c.8848C>T (p.Pro2950Ser)
c.6358C>T (p.Pro2120Ser)
10g.71815050delCA2609588303CDH23c.9837del (p.Asp3280MetfsTer?)
c.3770del (n.3770del)
c.3329del (n.3329del)
c.9852del (p.Asp3285MetfsTer?)
c.3117del (p.Asp1040MetfsTer?)
n.3268del
c.3012del (p.Asp1005MetfsTer?)
c.528del (p.Asp177MetfsTer?)
c.423del (p.Asp142MetfsTer?)
c.10032del (p.Asp3345MetfsTer?)
c.9966del (p.Asp3323MetfsTer?)
c.10029del (p.Asp3344MetfsTer?)
c.10026del (p.Asp3343MetfsTer?)
c.9972del (p.Asp3325MetfsTer?)
c.9942del (p.Asp3315MetfsTer?)
c.9927del (p.Asp3310MetfsTer?)
c.9897del (p.Asp3300MetfsTer?)
c.9492del (p.Asp3165MetfsTer?)
c.8850del (p.Asp2951MetfsTer?)
c.6360del (p.Asp2121MetfsTer?)
 gnomAD v4
10g.71815049C>ACA377138190CDH23c.9836C>A (p.Pro3279His)
c.3769C>A (n.3769C>A)
c.3328C>A (n.3328C>A)
c.9851C>A (p.Pro3284His)
c.3116C>A (p.Pro1039His)
n.3267C>A
c.3011C>A (p.Pro1004His)
c.527C>A (p.Pro176His)
c.422C>A (p.Pro141His)
c.10031C>A (p.Pro3344His)
c.9965C>A (p.Pro3322His)
c.10028C>A (p.Pro3343His)
c.10025C>A (p.Pro3342His)
c.9971C>A (p.Pro3324His)
c.9941C>A (p.Pro3314His)
c.9926C>A (p.Pro3309His)
c.9896C>A (p.Pro3299His)
c.9491C>A (p.Pro3164His)
c.8849C>A (p.Pro2950His)
c.6359C>A (p.Pro2120His)
10g.71815049C>GCA377138191CDH23c.9836C>G (p.Pro3279Arg)
c.3769C>G (n.3769C>G)
c.3328C>G (n.3328C>G)
c.9851C>G (p.Pro3284Arg)
c.3116C>G (p.Pro1039Arg)
n.3267C>G
c.3011C>G (p.Pro1004Arg)
c.527C>G (p.Pro176Arg)
c.422C>G (p.Pro141Arg)
c.10031C>G (p.Pro3344Arg)
c.9965C>G (p.Pro3322Arg)
c.10028C>G (p.Pro3343Arg)
c.10025C>G (p.Pro3342Arg)
c.9971C>G (p.Pro3324Arg)
c.9941C>G (p.Pro3314Arg)
c.9926C>G (p.Pro3309Arg)
c.9896C>G (p.Pro3299Arg)
c.9491C>G (p.Pro3164Arg)
c.8849C>G (p.Pro2950Arg)
c.6359C>G (p.Pro2120Arg)
10g.71815049C>TCA377138192CDH23c.9836C>T (p.Pro3279Leu)
c.3769C>T (n.3769C>T)
c.3328C>T (n.3328C>T)
c.9851C>T (p.Pro3284Leu)
c.3116C>T (p.Pro1039Leu)
n.3267C>T
c.3011C>T (p.Pro1004Leu)
c.527C>T (p.Pro176Leu)
c.422C>T (p.Pro141Leu)
c.10031C>T (p.Pro3344Leu)
c.9965C>T (p.Pro3322Leu)
c.10028C>T (p.Pro3343Leu)
c.10025C>T (p.Pro3342Leu)
c.9971C>T (p.Pro3324Leu)
c.9941C>T (p.Pro3314Leu)
c.9926C>T (p.Pro3309Leu)
c.9896C>T (p.Pro3299Leu)
c.9491C>T (p.Pro3164Leu)
c.8849C>T (p.Pro2950Leu)
c.6359C>T (p.Pro2120Leu)
 ClinVar gnomAD v4
10g.71815050C>ACA470283206CDH23c.9837C>A (p.Pro3279=)
c.3770C>A (n.3770C>A)
c.3329C>A (n.3329C>A)
c.9852C>A (p.Pro3284=)
c.3117C>A (p.Pro1039=)
n.3268C>A
c.3012C>A (p.Pro1004=)
c.528C>A (p.Pro176=)
c.423C>A (p.Pro141=)
c.10032C>A (p.Pro3344=)
c.9966C>A (p.Pro3322=)
c.10029C>A (p.Pro3343=)
c.10026C>A (p.Pro3342=)
c.9972C>A (p.Pro3324=)
c.9942C>A (p.Pro3314=)
c.9927C>A (p.Pro3309=)
c.9897C>A (p.Pro3299=)
c.9492C>A (p.Pro3164=)
c.8850C>A (p.Pro2950=)
c.6360C>A (p.Pro2120=)
10g.71815050C=CA1918895626CDH23c.9837C= (p.Pro3279=)
c.3770C= (n.3770C=)
c.3329C= (n.3329C=)
c.9852C= (p.Pro3284=)
c.3117C= (p.Pro1039=)
n.3268C=
c.3012C= (p.Pro1004=)
c.528C= (p.Pro176=)
c.423C= (p.Pro141=)
c.10032C= (p.Pro3344=)
c.9966C= (p.Pro3322=)
c.10029C= (p.Pro3343=)
c.10026C= (p.Pro3342=)
c.9972C= (p.Pro3324=)
c.9942C= (p.Pro3314=)
c.9927C= (p.Pro3309=)
c.9897C= (p.Pro3299=)
c.9492C= (p.Pro3164=)
c.8850C= (p.Pro2950=)
c.6360C= (p.Pro2120=)
10g.71815050C>GCA470283207CDH23c.9837C>G (p.Pro3279=)
c.3770C>G (n.3770C>G)
c.3329C>G (n.3329C>G)
c.9852C>G (p.Pro3284=)
c.3117C>G (p.Pro1039=)
n.3268C>G
c.3012C>G (p.Pro1004=)
c.528C>G (p.Pro176=)
c.423C>G (p.Pro141=)
c.10032C>G (p.Pro3344=)
c.9966C>G (p.Pro3322=)
c.10029C>G (p.Pro3343=)
c.10026C>G (p.Pro3342=)
c.9972C>G (p.Pro3324=)
c.9942C>G (p.Pro3314=)
c.9927C>G (p.Pro3309=)
c.9897C>G (p.Pro3299=)
c.9492C>G (p.Pro3164=)
c.8850C>G (p.Pro2950=)
c.6360C>G (p.Pro2120=)
 ClinVar dbSNP
10g.71815050C>TCA5547184CDH23c.9837C>T (p.Pro3279=)
c.3770C>T (n.3770C>T)
c.3329C>T (n.3329C>T)
c.9852C>T (p.Pro3284=)
c.3117C>T (p.Pro1039=)
n.3268C>T
c.3012C>T (p.Pro1004=)
c.528C>T (p.Pro176=)
c.423C>T (p.Pro141=)
c.10032C>T (p.Pro3344=)
c.9966C>T (p.Pro3322=)
c.10029C>T (p.Pro3343=)
c.10026C>T (p.Pro3342=)
c.9972C>T (p.Pro3324=)
c.9942C>T (p.Pro3314=)
c.9927C>T (p.Pro3309=)
c.9897C>T (p.Pro3299=)
c.9492C>T (p.Pro3164=)
c.8850C>T (p.Pro2950=)
c.6360C>T (p.Pro2120=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71815051G>ACA5547185CDH23c.9838G>A (p.Asp3280Asn)
c.3771G>A (n.3771G>A)
c.3330G>A (n.3330G>A)
c.9853G>A (p.Asp3285Asn)
c.3118G>A (p.Asp1040Asn)
n.3269G>A
c.3013G>A (p.Asp1005Asn)
c.529G>A (p.Asp177Asn)
c.424G>A (p.Asp142Asn)
c.10033G>A (p.Asp3345Asn)
c.9967G>A (p.Asp3323Asn)
c.10030G>A (p.Asp3344Asn)
c.10027G>A (p.Asp3343Asn)
c.9973G>A (p.Asp3325Asn)
c.9943G>A (p.Asp3315Asn)
c.9928G>A (p.Asp3310Asn)
c.9898G>A (p.Asp3300Asn)
c.9493G>A (p.Asp3165Asn)
c.8851G>A (p.Asp2951Asn)
c.6361G>A (p.Asp2121Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71815051G>CCA377138194CDH23c.9838G>C (p.Asp3280His)
c.3771G>C (n.3771G>C)
c.3330G>C (n.3330G>C)
c.9853G>C (p.Asp3285His)
c.3118G>C (p.Asp1040His)
n.3269G>C
c.3013G>C (p.Asp1005His)
c.529G>C (p.Asp177His)
c.424G>C (p.Asp142His)
c.10033G>C (p.Asp3345His)
c.9967G>C (p.Asp3323His)
c.10030G>C (p.Asp3344His)
c.10027G>C (p.Asp3343His)
c.9973G>C (p.Asp3325His)
c.9943G>C (p.Asp3315His)
c.9928G>C (p.Asp3310His)
c.9898G>C (p.Asp3300His)
c.9493G>C (p.Asp3165His)
c.8851G>C (p.Asp2951His)
c.6361G>C (p.Asp2121His)
10g.71815051G=CA1918895630CDH23c.9838G= (p.Asp3280=)
c.3771G= (n.3771G=)
c.3330G= (n.3330G=)
c.9853G= (p.Asp3285=)
c.3118G= (p.Asp1040=)
n.3269G=
c.3013G= (p.Asp1005=)
c.529G= (p.Asp177=)
c.424G= (p.Asp142=)
c.10033G= (p.Asp3345=)
c.9967G= (p.Asp3323=)
c.10030G= (p.Asp3344=)
c.10027G= (p.Asp3343=)
c.9973G= (p.Asp3325=)
c.9943G= (p.Asp3315=)
c.9928G= (p.Asp3310=)
c.9898G= (p.Asp3300=)
c.9493G= (p.Asp3165=)
c.8851G= (p.Asp2951=)
c.6361G= (p.Asp2121=)
10g.71815051G>TCA377138193CDH23c.9838G>T (p.Asp3280Tyr)
c.3771G>T (n.3771G>T)
c.3330G>T (n.3330G>T)
c.9853G>T (p.Asp3285Tyr)
c.3118G>T (p.Asp1040Tyr)
n.3269G>T
c.3013G>T (p.Asp1005Tyr)
c.529G>T (p.Asp177Tyr)
c.424G>T (p.Asp142Tyr)
c.10033G>T (p.Asp3345Tyr)
c.9967G>T (p.Asp3323Tyr)
c.10030G>T (p.Asp3344Tyr)
c.10027G>T (p.Asp3343Tyr)
c.9973G>T (p.Asp3325Tyr)
c.9943G>T (p.Asp3315Tyr)
c.9928G>T (p.Asp3310Tyr)
c.9898G>T (p.Asp3300Tyr)
c.9493G>T (p.Asp3165Tyr)
c.8851G>T (p.Asp2951Tyr)
c.6361G>T (p.Asp2121Tyr)
10g.71815052A>CCA377138196CDH23c.9839A>C (p.Asp3280Ala)
c.3772A>C (n.3772A>C)
c.3331A>C (n.3331A>C)
c.9854A>C (p.Asp3285Ala)
c.3119A>C (p.Asp1040Ala)
n.3270A>C
c.3014A>C (p.Asp1005Ala)
c.530A>C (p.Asp177Ala)
c.425A>C (p.Asp142Ala)
c.10034A>C (p.Asp3345Ala)
c.9968A>C (p.Asp3323Ala)
c.10031A>C (p.Asp3344Ala)
c.10028A>C (p.Asp3343Ala)
c.9974A>C (p.Asp3325Ala)
c.9944A>C (p.Asp3315Ala)
c.9929A>C (p.Asp3310Ala)
c.9899A>C (p.Asp3300Ala)
c.9494A>C (p.Asp3165Ala)
c.8852A>C (p.Asp2951Ala)
c.6362A>C (p.Asp2121Ala)
10g.71815052A>GCA377138197CDH23c.9839A>G (p.Asp3280Gly)
c.3772A>G (n.3772A>G)
c.3331A>G (n.3331A>G)
c.9854A>G (p.Asp3285Gly)
c.3119A>G (p.Asp1040Gly)
n.3270A>G
c.3014A>G (p.Asp1005Gly)
c.530A>G (p.Asp177Gly)
c.425A>G (p.Asp142Gly)
c.10034A>G (p.Asp3345Gly)
c.9968A>G (p.Asp3323Gly)
c.10031A>G (p.Asp3344Gly)
c.10028A>G (p.Asp3343Gly)
c.9974A>G (p.Asp3325Gly)
c.9944A>G (p.Asp3315Gly)
c.9929A>G (p.Asp3310Gly)
c.9899A>G (p.Asp3300Gly)
c.9494A>G (p.Asp3165Gly)
c.8852A>G (p.Asp2951Gly)
c.6362A>G (p.Asp2121Gly)
10g.71815052A>TCA377138199CDH23c.9839A>T (p.Asp3280Val)
c.3772A>T (n.3772A>T)
c.3331A>T (n.3331A>T)
c.9854A>T (p.Asp3285Val)
c.3119A>T (p.Asp1040Val)
n.3270A>T
c.3014A>T (p.Asp1005Val)
c.530A>T (p.Asp177Val)
c.425A>T (p.Asp142Val)
c.10034A>T (p.Asp3345Val)
c.9968A>T (p.Asp3323Val)
c.10031A>T (p.Asp3344Val)
c.10028A>T (p.Asp3343Val)
c.9974A>T (p.Asp3325Val)
c.9944A>T (p.Asp3315Val)
c.9929A>T (p.Asp3310Val)
c.9899A>T (p.Asp3300Val)
c.9494A>T (p.Asp3165Val)
c.8852A>T (p.Asp2951Val)
c.6362A>T (p.Asp2121Val)
10g.71815053T>ACA377138201CDH23c.9840T>A (p.Asp3280Glu)
c.3773T>A (n.3773T>A)
c.3332T>A (n.3332T>A)
c.9855T>A (p.Asp3285Glu)
c.3120T>A (p.Asp1040Glu)
n.3271T>A
c.3015T>A (p.Asp1005Glu)
c.531T>A (p.Asp177Glu)
c.426T>A (p.Asp142Glu)
c.10035T>A (p.Asp3345Glu)
c.9969T>A (p.Asp3323Glu)
c.10032T>A (p.Asp3344Glu)
c.10029T>A (p.Asp3343Glu)
c.9975T>A (p.Asp3325Glu)
c.9945T>A (p.Asp3315Glu)
c.9930T>A (p.Asp3310Glu)
c.9900T>A (p.Asp3300Glu)
c.9495T>A (p.Asp3165Glu)
c.8853T>A (p.Asp2951Glu)
c.6363T>A (p.Asp2121Glu)
10g.71815053T>CCA470283211CDH23c.9840T>C (p.Asp3280=)
c.3773T>C (n.3773T>C)
c.3332T>C (n.3332T>C)
c.9855T>C (p.Asp3285=)
c.3120T>C (p.Asp1040=)
n.3271T>C
c.3015T>C (p.Asp1005=)
c.531T>C (p.Asp177=)
c.426T>C (p.Asp142=)
c.10035T>C (p.Asp3345=)
c.9969T>C (p.Asp3323=)
c.10032T>C (p.Asp3344=)
c.10029T>C (p.Asp3343=)
c.9975T>C (p.Asp3325=)
c.9945T>C (p.Asp3315=)
c.9930T>C (p.Asp3310=)
c.9900T>C (p.Asp3300=)
c.9495T>C (p.Asp3165=)
c.8853T>C (p.Asp2951=)
c.6363T>C (p.Asp2121=)
 ClinVar dbSNP gnomAD v4
10g.71815053T>GCA377138203CDH23c.9840T>G (p.Asp3280Glu)
c.3773T>G (n.3773T>G)
c.3332T>G (n.3332T>G)
c.9855T>G (p.Asp3285Glu)
c.3120T>G (p.Asp1040Glu)
n.3271T>G
c.3015T>G (p.Asp1005Glu)
c.531T>G (p.Asp177Glu)
c.426T>G (p.Asp142Glu)
c.10035T>G (p.Asp3345Glu)
c.9969T>G (p.Asp3323Glu)
c.10032T>G (p.Asp3344Glu)
c.10029T>G (p.Asp3343Glu)
c.9975T>G (p.Asp3325Glu)
c.9945T>G (p.Asp3315Glu)
c.9930T>G (p.Asp3310Glu)
c.9900T>G (p.Asp3300Glu)
c.9495T>G (p.Asp3165Glu)
c.8853T>G (p.Asp2951Glu)
c.6363T>G (p.Asp2121Glu)
10g.71815054G>ACA377138209CDH23c.9841G>A (p.Gly3281Arg)
c.3774G>A (n.3774G>A)
c.3333G>A (n.3333G>A)
c.9856G>A (p.Gly3286Arg)
c.3121G>A (p.Gly1041Arg)
n.3272G>A
c.3016G>A (p.Gly1006Arg)
c.532G>A (p.Gly178Arg)
c.427G>A (p.Gly143Arg)
c.10036G>A (p.Gly3346Arg)
c.9970G>A (p.Gly3324Arg)
c.10033G>A (p.Gly3345Arg)
c.10030G>A (p.Gly3344Arg)
c.9976G>A (p.Gly3326Arg)
c.9946G>A (p.Gly3316Arg)
c.9931G>A (p.Gly3311Arg)
c.9901G>A (p.Gly3301Arg)
c.9496G>A (p.Gly3166Arg)
c.8854G>A (p.Gly2952Arg)
c.6364G>A (p.Gly2122Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71815054G>CCA377138207CDH23c.9841G>C (p.Gly3281Arg)
c.3774G>C (n.3774G>C)
c.3333G>C (n.3333G>C)
c.9856G>C (p.Gly3286Arg)
c.3121G>C (p.Gly1041Arg)
n.3272G>C
c.3016G>C (p.Gly1006Arg)
c.532G>C (p.Gly178Arg)
c.427G>C (p.Gly143Arg)
c.10036G>C (p.Gly3346Arg)
c.9970G>C (p.Gly3324Arg)
c.10033G>C (p.Gly3345Arg)
c.10030G>C (p.Gly3344Arg)
c.9976G>C (p.Gly3326Arg)
c.9946G>C (p.Gly3316Arg)
c.9931G>C (p.Gly3311Arg)
c.9901G>C (p.Gly3301Arg)
c.9496G>C (p.Gly3166Arg)
c.8854G>C (p.Gly2952Arg)
c.6364G>C (p.Gly2122Arg)
10g.71815054G=CA1918895633CDH23c.9841G= (p.Gly3281=)
c.3774G= (n.3774G=)
c.3333G= (n.3333G=)
c.9856G= (p.Gly3286=)
c.3121G= (p.Gly1041=)
n.3272G=
c.3016G= (p.Gly1006=)
c.532G= (p.Gly178=)
c.427G= (p.Gly143=)
c.10036G= (p.Gly3346=)
c.9970G= (p.Gly3324=)
c.10033G= (p.Gly3345=)
c.10030G= (p.Gly3344=)
c.9976G= (p.Gly3326=)
c.9946G= (p.Gly3316=)
c.9931G= (p.Gly3311=)
c.9901G= (p.Gly3301=)
c.9496G= (p.Gly3166=)
c.8854G= (p.Gly2952=)
c.6364G= (p.Gly2122=)
10g.71815054G>TCA377138205CDH23c.9841G>T (p.Gly3281Trp)
c.3774G>T (n.3774G>T)
c.3333G>T (n.3333G>T)
c.9856G>T (p.Gly3286Trp)
c.3121G>T (p.Gly1041Trp)
n.3272G>T
c.3016G>T (p.Gly1006Trp)
c.532G>T (p.Gly178Trp)
c.427G>T (p.Gly143Trp)
c.10036G>T (p.Gly3346Trp)
c.9970G>T (p.Gly3324Trp)
c.10033G>T (p.Gly3345Trp)
c.10030G>T (p.Gly3344Trp)
c.9976G>T (p.Gly3326Trp)
c.9946G>T (p.Gly3316Trp)
c.9931G>T (p.Gly3311Trp)
c.9901G>T (p.Gly3301Trp)
c.9496G>T (p.Gly3166Trp)
c.8854G>T (p.Gly2952Trp)
c.6364G>T (p.Gly2122Trp)
 gnomAD v4
10g.71815055G>ACA377138210CDH23c.9842G>A (p.Gly3281Glu)
c.3775G>A (n.3775G>A)
c.3334G>A (n.3334G>A)
c.9857G>A (p.Gly3286Glu)
c.3122G>A (p.Gly1041Glu)
n.3273G>A
c.3017G>A (p.Gly1006Glu)
c.533G>A (p.Gly178Glu)
c.428G>A (p.Gly143Glu)
c.10037G>A (p.Gly3346Glu)
c.9971G>A (p.Gly3324Glu)
c.10034G>A (p.Gly3345Glu)
c.10031G>A (p.Gly3344Glu)
c.9977G>A (p.Gly3326Glu)
c.9947G>A (p.Gly3316Glu)
c.9932G>A (p.Gly3311Glu)
c.9902G>A (p.Gly3301Glu)
c.9497G>A (p.Gly3166Glu)
c.8855G>A (p.Gly2952Glu)
c.6365G>A (p.Gly2122Glu)
10g.71815055G>CCA377138213CDH23c.9842G>C (p.Gly3281Ala)
c.3775G>C (n.3775G>C)
c.3334G>C (n.3334G>C)
c.9857G>C (p.Gly3286Ala)
c.3122G>C (p.Gly1041Ala)
n.3273G>C
c.3017G>C (p.Gly1006Ala)
c.533G>C (p.Gly178Ala)
c.428G>C (p.Gly143Ala)
c.10037G>C (p.Gly3346Ala)
c.9971G>C (p.Gly3324Ala)
c.10034G>C (p.Gly3345Ala)
c.10031G>C (p.Gly3344Ala)
c.9977G>C (p.Gly3326Ala)
c.9947G>C (p.Gly3316Ala)
c.9932G>C (p.Gly3311Ala)
c.9902G>C (p.Gly3301Ala)
c.9497G>C (p.Gly3166Ala)
c.8855G>C (p.Gly2952Ala)
c.6365G>C (p.Gly2122Ala)
10g.71815055G>TCA377138215CDH23c.9842G>T (p.Gly3281Val)
c.3775G>T (n.3775G>T)
c.3334G>T (n.3334G>T)
c.9857G>T (p.Gly3286Val)
c.3122G>T (p.Gly1041Val)
n.3273G>T
c.3017G>T (p.Gly1006Val)
c.533G>T (p.Gly178Val)
c.428G>T (p.Gly143Val)
c.10037G>T (p.Gly3346Val)
c.9971G>T (p.Gly3324Val)
c.10034G>T (p.Gly3345Val)
c.10031G>T (p.Gly3344Val)
c.9977G>T (p.Gly3326Val)
c.9947G>T (p.Gly3316Val)
c.9932G>T (p.Gly3311Val)
c.9902G>T (p.Gly3301Val)
c.9497G>T (p.Gly3166Val)
c.8855G>T (p.Gly2952Val)
c.6365G>T (p.Gly2122Val)
10g.71815056G>ACA470283216CDH23c.9843G>A (p.Gly3281=)
c.3776G>A (n.3776G>A)
c.3335G>A (n.3335G>A)
c.9858G>A (p.Gly3286=)
c.3123G>A (p.Gly1041=)
n.3274G>A
c.3018G>A (p.Gly1006=)
c.534G>A (p.Gly178=)
c.429G>A (p.Gly143=)
c.10038G>A (p.Gly3346=)
c.9972G>A (p.Gly3324=)
c.10035G>A (p.Gly3345=)
c.10032G>A (p.Gly3344=)
c.9978G>A (p.Gly3326=)
c.9948G>A (p.Gly3316=)
c.9933G>A (p.Gly3311=)
c.9903G>A (p.Gly3301=)
c.9498G>A (p.Gly3166=)
c.8856G>A (p.Gly2952=)
c.6366G>A (p.Gly2122=)
 ClinVar dbSNP gnomAD v4
10g.71815056G>CCA470283215CDH23c.9843G>C (p.Gly3281=)
c.3776G>C (n.3776G>C)
c.3335G>C (n.3335G>C)
c.9858G>C (p.Gly3286=)
c.3123G>C (p.Gly1041=)
n.3274G>C
c.3018G>C (p.Gly1006=)
c.534G>C (p.Gly178=)
c.429G>C (p.Gly143=)
c.10038G>C (p.Gly3346=)
c.9972G>C (p.Gly3324=)
c.10035G>C (p.Gly3345=)
c.10032G>C (p.Gly3344=)
c.9978G>C (p.Gly3326=)
c.9948G>C (p.Gly3316=)
c.9933G>C (p.Gly3311=)
c.9903G>C (p.Gly3301=)
c.9498G>C (p.Gly3166=)
c.8856G>C (p.Gly2952=)
c.6366G>C (p.Gly2122=)
10g.71815056G>TCA470283213CDH23c.9843G>T (p.Gly3281=)
c.3776G>T (n.3776G>T)
c.3335G>T (n.3335G>T)
c.9858G>T (p.Gly3286=)
c.3123G>T (p.Gly1041=)
n.3274G>T
c.3018G>T (p.Gly1006=)
c.534G>T (p.Gly178=)
c.429G>T (p.Gly143=)
c.10038G>T (p.Gly3346=)
c.9972G>T (p.Gly3324=)
c.10035G>T (p.Gly3345=)
c.10032G>T (p.Gly3344=)
c.9978G>T (p.Gly3326=)
c.9948G>T (p.Gly3316=)
c.9933G>T (p.Gly3311=)
c.9903G>T (p.Gly3301=)
c.9498G>T (p.Gly3166=)
c.8856G>T (p.Gly2952=)
c.6366G>T (p.Gly2122=)
10g.71815057A>CCA377138217CDH23c.9844A>C (p.Ile3282Leu)
c.3777A>C (n.3777A>C)
c.3336A>C (n.3336A>C)
c.9859A>C (p.Ile3287Leu)
c.3124A>C (p.Ile1042Leu)
n.3275A>C
c.3019A>C (p.Ile1007Leu)
c.535A>C (p.Ile179Leu)
c.430A>C (p.Ile144Leu)
c.10039A>C (p.Ile3347Leu)
c.9973A>C (p.Ile3325Leu)
c.10036A>C (p.Ile3346Leu)
c.10033A>C (p.Ile3345Leu)
c.9979A>C (p.Ile3327Leu)
c.9949A>C (p.Ile3317Leu)
c.9934A>C (p.Ile3312Leu)
c.9904A>C (p.Ile3302Leu)
c.9499A>C (p.Ile3167Leu)
c.8857A>C (p.Ile2953Leu)
c.6367A>C (p.Ile2123Leu)
10g.71815057A>GCA377138219CDH23c.9844A>G (p.Ile3282Val)
c.3777A>G (n.3777A>G)
c.3336A>G (n.3336A>G)
c.9859A>G (p.Ile3287Val)
c.3124A>G (p.Ile1042Val)
n.3275A>G
c.3019A>G (p.Ile1007Val)
c.535A>G (p.Ile179Val)
c.430A>G (p.Ile144Val)
c.10039A>G (p.Ile3347Val)
c.9973A>G (p.Ile3325Val)
c.10036A>G (p.Ile3346Val)
c.10033A>G (p.Ile3345Val)
c.9979A>G (p.Ile3327Val)
c.9949A>G (p.Ile3317Val)
c.9934A>G (p.Ile3312Val)
c.9904A>G (p.Ile3302Val)
c.9499A>G (p.Ile3167Val)
c.8857A>G (p.Ile2953Val)
c.6367A>G (p.Ile2123Val)
10g.71815057A>TCA377138220CDH23c.9844A>T (p.Ile3282Phe)
c.3777A>T (n.3777A>T)
c.3336A>T (n.3336A>T)
c.9859A>T (p.Ile3287Phe)
c.3124A>T (p.Ile1042Phe)
n.3275A>T
c.3019A>T (p.Ile1007Phe)
c.535A>T (p.Ile179Phe)
c.430A>T (p.Ile144Phe)
c.10039A>T (p.Ile3347Phe)
c.9973A>T (p.Ile3325Phe)
c.10036A>T (p.Ile3346Phe)
c.10033A>T (p.Ile3345Phe)
c.9979A>T (p.Ile3327Phe)
c.9949A>T (p.Ile3317Phe)
c.9934A>T (p.Ile3312Phe)
c.9904A>T (p.Ile3302Phe)
c.9499A>T (p.Ile3167Phe)
c.8857A>T (p.Ile2953Phe)
c.6367A>T (p.Ile2123Phe)
10g.71815058T>ACA377138222CDH23c.9845T>A (p.Ile3282Asn)
c.3778T>A (n.3778T>A)
c.3337T>A (n.3337T>A)
c.9860T>A (p.Ile3287Asn)
c.3125T>A (p.Ile1042Asn)
n.3276T>A
c.3020T>A (p.Ile1007Asn)
c.536T>A (p.Ile179Asn)
c.431T>A (p.Ile144Asn)
c.10040T>A (p.Ile3347Asn)
c.9974T>A (p.Ile3325Asn)
c.10037T>A (p.Ile3346Asn)
c.10034T>A (p.Ile3345Asn)
c.9980T>A (p.Ile3327Asn)
c.9950T>A (p.Ile3317Asn)
c.9935T>A (p.Ile3312Asn)
c.9905T>A (p.Ile3302Asn)
c.9500T>A (p.Ile3167Asn)
c.8858T>A (p.Ile2953Asn)
c.6368T>A (p.Ile2123Asn)
10g.71815058T>CCA377138225CDH23c.9845T>C (p.Ile3282Thr)
c.3778T>C (n.3778T>C)
c.3337T>C (n.3337T>C)
c.9860T>C (p.Ile3287Thr)
c.3125T>C (p.Ile1042Thr)
n.3276T>C
c.3020T>C (p.Ile1007Thr)
c.536T>C (p.Ile179Thr)
c.431T>C (p.Ile144Thr)
c.10040T>C (p.Ile3347Thr)
c.9974T>C (p.Ile3325Thr)
c.10037T>C (p.Ile3346Thr)
c.10034T>C (p.Ile3345Thr)
c.9980T>C (p.Ile3327Thr)
c.9950T>C (p.Ile3317Thr)
c.9935T>C (p.Ile3312Thr)
c.9905T>C (p.Ile3302Thr)
c.9500T>C (p.Ile3167Thr)
c.8858T>C (p.Ile2953Thr)
c.6368T>C (p.Ile2123Thr)
10g.71815058T>GCA377138224CDH23c.9845T>G (p.Ile3282Ser)
c.3778T>G (n.3778T>G)
c.3337T>G (n.3337T>G)
c.9860T>G (p.Ile3287Ser)
c.3125T>G (p.Ile1042Ser)
n.3276T>G
c.3020T>G (p.Ile1007Ser)
c.536T>G (p.Ile179Ser)
c.431T>G (p.Ile144Ser)
c.10040T>G (p.Ile3347Ser)
c.9974T>G (p.Ile3325Ser)
c.10037T>G (p.Ile3346Ser)
c.10034T>G (p.Ile3345Ser)
c.9980T>G (p.Ile3327Ser)
c.9950T>G (p.Ile3317Ser)
c.9935T>G (p.Ile3312Ser)
c.9905T>G (p.Ile3302Ser)
c.9500T>G (p.Ile3167Ser)
c.8858T>G (p.Ile2953Ser)
c.6368T>G (p.Ile2123Ser)
 dbSNP
10g.71815059C>ACA470283222CDH23c.9846C>A (p.Ile3282=)
c.3779C>A (n.3779C>A)
c.3338C>A (n.3338C>A)
c.9861C>A (p.Ile3287=)
c.3126C>A (p.Ile1042=)
n.3277C>A
c.3021C>A (p.Ile1007=)
c.537C>A (p.Ile179=)
c.432C>A (p.Ile144=)
c.10041C>A (p.Ile3347=)
c.9975C>A (p.Ile3325=)
c.10038C>A (p.Ile3346=)
c.10035C>A (p.Ile3345=)
c.9981C>A (p.Ile3327=)
c.9951C>A (p.Ile3317=)
c.9936C>A (p.Ile3312=)
c.9906C>A (p.Ile3302=)
c.9501C>A (p.Ile3167=)
c.8859C>A (p.Ile2953=)
c.6369C>A (p.Ile2123=)
10g.71815059C>GCA377138227CDH23c.9846C>G (p.Ile3282Met)
c.3779C>G (n.3779C>G)
c.3338C>G (n.3338C>G)
c.9861C>G (p.Ile3287Met)
c.3126C>G (p.Ile1042Met)
n.3277C>G
c.3021C>G (p.Ile1007Met)
c.537C>G (p.Ile179Met)
c.432C>G (p.Ile144Met)
c.10041C>G (p.Ile3347Met)
c.9975C>G (p.Ile3325Met)
c.10038C>G (p.Ile3346Met)
c.10035C>G (p.Ile3345Met)
c.9981C>G (p.Ile3327Met)
c.9951C>G (p.Ile3317Met)
c.9936C>G (p.Ile3312Met)
c.9906C>G (p.Ile3302Met)
c.9501C>G (p.Ile3167Met)
c.8859C>G (p.Ile2953Met)
c.6369C>G (p.Ile2123Met)
10g.71815059C>TCA470283220CDH23c.9846C>T (p.Ile3282=)
c.3779C>T (n.3779C>T)
c.3338C>T (n.3338C>T)
c.9861C>T (p.Ile3287=)
c.3126C>T (p.Ile1042=)
n.3277C>T
c.3021C>T (p.Ile1007=)
c.537C>T (p.Ile179=)
c.432C>T (p.Ile144=)
c.10041C>T (p.Ile3347=)
c.9975C>T (p.Ile3325=)
c.10038C>T (p.Ile3346=)
c.10035C>T (p.Ile3345=)
c.9981C>T (p.Ile3327=)
c.9951C>T (p.Ile3317=)
c.9936C>T (p.Ile3312=)
c.9906C>T (p.Ile3302=)
c.9501C>T (p.Ile3167=)
c.8859C>T (p.Ile2953=)
c.6369C>T (p.Ile2123=)
10g.71815060C>ACA377138232CDH23c.9847C>A (p.His3283Asn)
c.3780C>A (n.3780C>A)
c.3339C>A (n.3339C>A)
c.9862C>A (p.His3288Asn)
c.3127C>A (p.His1043Asn)
n.3278C>A
c.3022C>A (p.His1008Asn)
c.538C>A (p.His180Asn)
c.433C>A (p.His145Asn)
c.10042C>A (p.His3348Asn)
c.9976C>A (p.His3326Asn)
c.10039C>A (p.His3347Asn)
c.10036C>A (p.His3346Asn)
c.9982C>A (p.His3328Asn)
c.9952C>A (p.His3318Asn)
c.9937C>A (p.His3313Asn)
c.9907C>A (p.His3303Asn)
c.9502C>A (p.His3168Asn)
c.8860C>A (p.His2954Asn)
c.6370C>A (p.His2124Asn)
10g.71815060C=CA1918895637CDH23c.9847C= (p.His3283=)
c.3780C= (n.3780C=)
c.3339C= (n.3339C=)
c.9862C= (p.His3288=)
c.3127C= (p.His1043=)
n.3278C=
c.3022C= (p.His1008=)
c.538C= (p.His180=)
c.433C= (p.His145=)
c.10042C= (p.His3348=)
c.9976C= (p.His3326=)
c.10039C= (p.His3347=)
c.10036C= (p.His3346=)
c.9982C= (p.His3328=)
c.9952C= (p.His3318=)
c.9937C= (p.His3313=)
c.9907C= (p.His3303=)
c.9502C= (p.His3168=)
c.8860C= (p.His2954=)
c.6370C= (p.His2124=)
10g.71815060C>GCA377138234CDH23c.9847C>G (p.His3283Asp)
c.3780C>G (n.3780C>G)
c.3339C>G (n.3339C>G)
c.9862C>G (p.His3288Asp)
c.3127C>G (p.His1043Asp)
n.3278C>G
c.3022C>G (p.His1008Asp)
c.538C>G (p.His180Asp)
c.433C>G (p.His145Asp)
c.10042C>G (p.His3348Asp)
c.9976C>G (p.His3326Asp)
c.10039C>G (p.His3347Asp)
c.10036C>G (p.His3346Asp)
c.9982C>G (p.His3328Asp)
c.9952C>G (p.His3318Asp)
c.9937C>G (p.His3313Asp)
c.9907C>G (p.His3303Asp)
c.9502C>G (p.His3168Asp)
c.8860C>G (p.His2954Asp)
c.6370C>G (p.His2124Asp)
10g.71815060C>TCA377138236CDH23c.9847C>T (p.His3283Tyr)
c.3780C>T (n.3780C>T)
c.3339C>T (n.3339C>T)
c.9862C>T (p.His3288Tyr)
c.3127C>T (p.His1043Tyr)
n.3278C>T
c.3022C>T (p.His1008Tyr)
c.538C>T (p.His180Tyr)
c.433C>T (p.His145Tyr)
c.10042C>T (p.His3348Tyr)
c.9976C>T (p.His3326Tyr)
c.10039C>T (p.His3347Tyr)
c.10036C>T (p.His3346Tyr)
c.9982C>T (p.His3328Tyr)
c.9952C>T (p.His3318Tyr)
c.9937C>T (p.His3313Tyr)
c.9907C>T (p.His3303Tyr)
c.9502C>T (p.His3168Tyr)
c.8860C>T (p.His2954Tyr)
c.6370C>T (p.His2124Tyr)
 dbSNP gnomAD v2 gnomAD v4
10g.71815061A=CA1918895640CDH23c.9848A= (p.His3283=)
c.3781A= (n.3781A=)
c.3340A= (n.3340A=)
c.9863A= (p.His3288=)
c.3128A= (p.His1043=)
n.3279A=
c.3023A= (p.His1008=)
c.539A= (p.His180=)
c.434A= (p.His145=)
c.10043A= (p.His3348=)
c.9977A= (p.His3326=)
c.10040A= (p.His3347=)
c.10037A= (p.His3346=)
c.9983A= (p.His3328=)
c.9953A= (p.His3318=)
c.9938A= (p.His3313=)
c.9908A= (p.His3303=)
c.9503A= (p.His3168=)
c.8861A= (p.His2954=)
c.6371A= (p.His2124=)
10g.71815061A>CCA377138238CDH23c.9848A>C (p.His3283Pro)
c.3781A>C (n.3781A>C)
c.3340A>C (n.3340A>C)
c.9863A>C (p.His3288Pro)
c.3128A>C (p.His1043Pro)
n.3279A>C
c.3023A>C (p.His1008Pro)
c.539A>C (p.His180Pro)
c.434A>C (p.His145Pro)
c.10043A>C (p.His3348Pro)
c.9977A>C (p.His3326Pro)
c.10040A>C (p.His3347Pro)
c.10037A>C (p.His3346Pro)
c.9983A>C (p.His3328Pro)
c.9953A>C (p.His3318Pro)
c.9938A>C (p.His3313Pro)
c.9908A>C (p.His3303Pro)
c.9503A>C (p.His3168Pro)
c.8861A>C (p.His2954Pro)
c.6371A>C (p.His2124Pro)
10g.71815061A>GCA377138239CDH23c.9848A>G (p.His3283Arg)
c.3781A>G (n.3781A>G)
c.3340A>G (n.3340A>G)
c.9863A>G (p.His3288Arg)
c.3128A>G (p.His1043Arg)
n.3279A>G
c.3023A>G (p.His1008Arg)
c.539A>G (p.His180Arg)
c.434A>G (p.His145Arg)
c.10043A>G (p.His3348Arg)
c.9977A>G (p.His3326Arg)
c.10040A>G (p.His3347Arg)
c.10037A>G (p.His3346Arg)
c.9983A>G (p.His3328Arg)
c.9953A>G (p.His3318Arg)
c.9938A>G (p.His3313Arg)
c.9908A>G (p.His3303Arg)
c.9503A>G (p.His3168Arg)
c.8861A>G (p.His2954Arg)
c.6371A>G (p.His2124Arg)
 dbSNP
10g.71815061A>TCA377138240CDH23c.9848A>T (p.His3283Leu)
c.3781A>T (n.3781A>T)
c.3340A>T (n.3340A>T)
c.9863A>T (p.His3288Leu)
c.3128A>T (p.His1043Leu)
n.3279A>T
c.3023A>T (p.His1008Leu)
c.539A>T (p.His180Leu)
c.434A>T (p.His145Leu)
c.10043A>T (p.His3348Leu)
c.9977A>T (p.His3326Leu)
c.10040A>T (p.His3347Leu)
c.10037A>T (p.His3346Leu)
c.9983A>T (p.His3328Leu)
c.9953A>T (p.His3318Leu)
c.9938A>T (p.His3313Leu)
c.9908A>T (p.His3303Leu)
c.9503A>T (p.His3168Leu)
c.8861A>T (p.His2954Leu)
c.6371A>T (p.His2124Leu)
10g.71815062T>ACA377138241CDH23c.9849T>A (p.His3283Gln)
c.3782T>A (n.3782T>A)
c.3341T>A (n.3341T>A)
c.9864T>A (p.His3288Gln)
c.3129T>A (p.His1043Gln)
n.3280T>A
c.3024T>A (p.His1008Gln)
c.540T>A (p.His180Gln)
c.435T>A (p.His145Gln)
c.10044T>A (p.His3348Gln)
c.9978T>A (p.His3326Gln)
c.10041T>A (p.His3347Gln)
c.10038T>A (p.His3346Gln)
c.9984T>A (p.His3328Gln)
c.9954T>A (p.His3318Gln)
c.9939T>A (p.His3313Gln)
c.9909T>A (p.His3303Gln)
c.9504T>A (p.His3168Gln)
c.8862T>A (p.His2954Gln)
c.6372T>A (p.His2124Gln)
10g.71815062T>CCA5547186CDH23c.9849T>C (p.His3283=)
c.3782T>C (n.3782T>C)
c.3341T>C (n.3341T>C)
c.9864T>C (p.His3288=)
c.3129T>C (p.His1043=)
n.3280T>C
c.3024T>C (p.His1008=)
c.540T>C (p.His180=)
c.435T>C (p.His145=)
c.10044T>C (p.His3348=)
c.9978T>C (p.His3326=)
c.10041T>C (p.His3347=)
c.10038T>C (p.His3346=)
c.9984T>C (p.His3328=)
c.9954T>C (p.His3318=)
c.9939T>C (p.His3313=)
c.9909T>C (p.His3303=)
c.9504T>C (p.His3168=)
c.8862T>C (p.His2954=)
c.6372T>C (p.His2124=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815062T>GCA377138242CDH23c.9849T>G (p.His3283Gln)
c.3782T>G (n.3782T>G)
c.3341T>G (n.3341T>G)
c.9864T>G (p.His3288Gln)
c.3129T>G (p.His1043Gln)
n.3280T>G
c.3024T>G (p.His1008Gln)
c.540T>G (p.His180Gln)
c.435T>G (p.His145Gln)
c.10044T>G (p.His3348Gln)
c.9978T>G (p.His3326Gln)
c.10041T>G (p.His3347Gln)
c.10038T>G (p.His3346Gln)
c.9984T>G (p.His3328Gln)
c.9954T>G (p.His3318Gln)
c.9939T>G (p.His3313Gln)
c.9909T>G (p.His3303Gln)
c.9504T>G (p.His3168Gln)
c.8862T>G (p.His2954Gln)
c.6372T>G (p.His2124Gln)
10g.71815062T=CA1918895644CDH23c.9849T= (p.His3283=)
c.3782T= (n.3782T=)
c.3341T= (n.3341T=)
c.9864T= (p.His3288=)
c.3129T= (p.His1043=)
n.3280T=
c.3024T= (p.His1008=)
c.540T= (p.His180=)
c.435T= (p.His145=)
c.10044T= (p.His3348=)
c.9978T= (p.His3326=)
c.10041T= (p.His3347=)
c.10038T= (p.His3346=)
c.9984T= (p.His3328=)
c.9954T= (p.His3318=)
c.9939T= (p.His3313=)
c.9909T= (p.His3303=)
c.9504T= (p.His3168=)
c.8862T= (p.His2954=)
c.6372T= (p.His2124=)
10g.71815062_71815063insACACA2788486554CDH23c.9849_9850insACA (p.His3283_Val3284insThr)
c.3782_3783insACA (n.3782_3783insACA)
c.3341_3342insACA (n.3341_3342insACA)
c.9864_9865insACA (p.His3288_Val3289insThr)
c.3129_3130insACA (p.His1043_Val1044insThr)
n.3280_3281insACA
c.3024_3025insACA (p.His1008_Val1009insThr)
c.540_541insACA (p.His180_Val181insThr)
c.435_436insACA (p.His145_Val146insThr)
c.10044_10045insACA (p.His3348_Val3349insThr)
c.9978_9979insACA (p.His3326_Val3327insThr)
c.10041_10042insACA (p.His3347_Val3348insThr)
c.10038_10039insACA (p.His3346_Val3347insThr)
c.9984_9985insACA (p.His3328_Val3329insThr)
c.9954_9955insACA (p.His3318_Val3319insThr)
c.9939_9940insACA (p.His3313_Val3314insThr)
c.9909_9910insACA (p.His3303_Val3304insThr)
c.9504_9505insACA (p.His3168_Val3169insThr)
c.8862_8863insACA (p.His2954_Val2955insThr)
c.6372_6373insACA (p.His2124_Val2125insThr)
10g.71815063G>ACA377138244CDH23c.9850G>A (p.Val3284Met)
c.3783G>A (n.3783G>A)
c.3342G>A (n.3342G>A)
c.9865G>A (p.Val3289Met)
c.3130G>A (p.Val1044Met)
n.3281G>A
c.3025G>A (p.Val1009Met)
c.541G>A (p.Val181Met)
c.436G>A (p.Val146Met)
c.10045G>A (p.Val3349Met)
c.9979G>A (p.Val3327Met)
c.10042G>A (p.Val3348Met)
c.10039G>A (p.Val3347Met)
c.9985G>A (p.Val3329Met)
c.9955G>A (p.Val3319Met)
c.9940G>A (p.Val3314Met)
c.9910G>A (p.Val3304Met)
c.9505G>A (p.Val3169Met)
c.8863G>A (p.Val2955Met)
c.6373G>A (p.Val2125Met)
10g.71815063G>CCA377138246CDH23c.9850G>C (p.Val3284Leu)
c.3783G>C (n.3783G>C)
c.3342G>C (n.3342G>C)
c.9865G>C (p.Val3289Leu)
c.3130G>C (p.Val1044Leu)
n.3281G>C
c.3025G>C (p.Val1009Leu)
c.541G>C (p.Val181Leu)
c.436G>C (p.Val146Leu)
c.10045G>C (p.Val3349Leu)
c.9979G>C (p.Val3327Leu)
c.10042G>C (p.Val3348Leu)
c.10039G>C (p.Val3347Leu)
c.9985G>C (p.Val3329Leu)
c.9955G>C (p.Val3319Leu)
c.9940G>C (p.Val3314Leu)
c.9910G>C (p.Val3304Leu)
c.9505G>C (p.Val3169Leu)
c.8863G>C (p.Val2955Leu)
c.6373G>C (p.Val2125Leu)
10g.71815063G>TCA377138248CDH23c.9850G>T (p.Val3284Leu)
c.3783G>T (n.3783G>T)
c.3342G>T (n.3342G>T)
c.9865G>T (p.Val3289Leu)
c.3130G>T (p.Val1044Leu)
n.3281G>T
c.3025G>T (p.Val1009Leu)
c.541G>T (p.Val181Leu)
c.436G>T (p.Val146Leu)
c.10045G>T (p.Val3349Leu)
c.9979G>T (p.Val3327Leu)
c.10042G>T (p.Val3348Leu)
c.10039G>T (p.Val3347Leu)
c.9985G>T (p.Val3329Leu)
c.9955G>T (p.Val3319Leu)
c.9940G>T (p.Val3314Leu)
c.9910G>T (p.Val3304Leu)
c.9505G>T (p.Val3169Leu)
c.8863G>T (p.Val2955Leu)
c.6373G>T (p.Val2125Leu)
10g.71815064T>ACA377138254CDH23c.9851T>A (p.Val3284Glu)
c.3784T>A (n.3784T>A)
c.3343T>A (n.3343T>A)
c.9866T>A (p.Val3289Glu)
c.3131T>A (p.Val1044Glu)
n.3282T>A
c.3026T>A (p.Val1009Glu)
c.542T>A (p.Val181Glu)
c.437T>A (p.Val146Glu)
c.10046T>A (p.Val3349Glu)
c.9980T>A (p.Val3327Glu)
c.10043T>A (p.Val3348Glu)
c.10040T>A (p.Val3347Glu)
c.9986T>A (p.Val3329Glu)
c.9956T>A (p.Val3319Glu)
c.9941T>A (p.Val3314Glu)
c.9911T>A (p.Val3304Glu)
c.9506T>A (p.Val3169Glu)
c.8864T>A (p.Val2955Glu)
c.6374T>A (p.Val2125Glu)
10g.71815064T>CCA377138252CDH23c.9851T>C (p.Val3284Ala)
c.3784T>C (n.3784T>C)
c.3343T>C (n.3343T>C)
c.9866T>C (p.Val3289Ala)
c.3131T>C (p.Val1044Ala)
n.3282T>C
c.3026T>C (p.Val1009Ala)
c.542T>C (p.Val181Ala)
c.437T>C (p.Val146Ala)
c.10046T>C (p.Val3349Ala)
c.9980T>C (p.Val3327Ala)
c.10043T>C (p.Val3348Ala)
c.10040T>C (p.Val3347Ala)
c.9986T>C (p.Val3329Ala)
c.9956T>C (p.Val3319Ala)
c.9941T>C (p.Val3314Ala)
c.9911T>C (p.Val3304Ala)
c.9506T>C (p.Val3169Ala)
c.8864T>C (p.Val2955Ala)
c.6374T>C (p.Val2125Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71815064T>GCA377138250CDH23c.9851T>G (p.Val3284Gly)
c.3784T>G (n.3784T>G)
c.3343T>G (n.3343T>G)
c.9866T>G (p.Val3289Gly)
c.3131T>G (p.Val1044Gly)
n.3282T>G
c.3026T>G (p.Val1009Gly)
c.542T>G (p.Val181Gly)
c.437T>G (p.Val146Gly)
c.10046T>G (p.Val3349Gly)
c.9980T>G (p.Val3327Gly)
c.10043T>G (p.Val3348Gly)
c.10040T>G (p.Val3347Gly)
c.9986T>G (p.Val3329Gly)
c.9956T>G (p.Val3319Gly)
c.9941T>G (p.Val3314Gly)
c.9911T>G (p.Val3304Gly)
c.9506T>G (p.Val3169Gly)
c.8864T>G (p.Val2955Gly)
c.6374T>G (p.Val2125Gly)
10g.71815064T=CA1918895646CDH23c.9851T= (p.Val3284=)
c.3784T= (n.3784T=)
c.3343T= (n.3343T=)
c.9866T= (p.Val3289=)
c.3131T= (p.Val1044=)
n.3282T=
c.3026T= (p.Val1009=)
c.542T= (p.Val181=)
c.437T= (p.Val146=)
c.10046T= (p.Val3349=)
c.9980T= (p.Val3327=)
c.10043T= (p.Val3348=)
c.10040T= (p.Val3347=)
c.9986T= (p.Val3329=)
c.9956T= (p.Val3319=)
c.9941T= (p.Val3314=)
c.9911T= (p.Val3304=)
c.9506T= (p.Val3169=)
c.8864T= (p.Val2955=)
c.6374T= (p.Val2125=)
10g.71815065G>ACA470283226CDH23c.9852G>A (p.Val3284=)
c.3785G>A (n.3785G>A)
c.3344G>A (n.3344G>A)
c.9867G>A (p.Val3289=)
c.3132G>A (p.Val1044=)
n.3283G>A
c.3027G>A (p.Val1009=)
c.543G>A (p.Val181=)
c.438G>A (p.Val146=)
c.10047G>A (p.Val3349=)
c.9981G>A (p.Val3327=)
c.10044G>A (p.Val3348=)
c.10041G>A (p.Val3347=)
c.9987G>A (p.Val3329=)
c.9957G>A (p.Val3319=)
c.9942G>A (p.Val3314=)
c.9912G>A (p.Val3304=)
c.9507G>A (p.Val3169=)
c.8865G>A (p.Val2955=)
c.6375G>A (p.Val2125=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71815065G>CCA470283228CDH23c.9852G>C (p.Val3284=)
c.3785G>C (n.3785G>C)
c.3344G>C (n.3344G>C)
c.9867G>C (p.Val3289=)
c.3132G>C (p.Val1044=)
n.3283G>C
c.3027G>C (p.Val1009=)
c.543G>C (p.Val181=)
c.438G>C (p.Val146=)
c.10047G>C (p.Val3349=)
c.9981G>C (p.Val3327=)
c.10044G>C (p.Val3348=)
c.10041G>C (p.Val3347=)
c.9987G>C (p.Val3329=)
c.9957G>C (p.Val3319=)
c.9942G>C (p.Val3314=)
c.9912G>C (p.Val3304=)
c.9507G>C (p.Val3169=)
c.8865G>C (p.Val2955=)
c.6375G>C (p.Val2125=)
10g.71815065G=CA1918895650CDH23c.9852G= (p.Val3284=)
c.3785G= (n.3785G=)
c.3344G= (n.3344G=)
c.9867G= (p.Val3289=)
c.3132G= (p.Val1044=)
n.3283G=
c.3027G= (p.Val1009=)
c.543G= (p.Val181=)
c.438G= (p.Val146=)
c.10047G= (p.Val3349=)
c.9981G= (p.Val3327=)
c.10044G= (p.Val3348=)
c.10041G= (p.Val3347=)
c.9987G= (p.Val3329=)
c.9957G= (p.Val3319=)
c.9942G= (p.Val3314=)
c.9912G= (p.Val3304=)
c.9507G= (p.Val3169=)
c.8865G= (p.Val2955=)
c.6375G= (p.Val2125=)
10g.71815065G>TCA470283229CDH23c.9852G>T (p.Val3284=)
c.3785G>T (n.3785G>T)
c.3344G>T (n.3344G>T)
c.9867G>T (p.Val3289=)
c.3132G>T (p.Val1044=)
n.3283G>T
c.3027G>T (p.Val1009=)
c.543G>T (p.Val181=)
c.438G>T (p.Val146=)
c.10047G>T (p.Val3349=)
c.9981G>T (p.Val3327=)
c.10044G>T (p.Val3348=)
c.10041G>T (p.Val3347=)
c.9987G>T (p.Val3329=)
c.9957G>T (p.Val3319=)
c.9942G>T (p.Val3314=)
c.9912G>T (p.Val3304=)
c.9507G>T (p.Val3169=)
c.8865G>T (p.Val2955=)
c.6375G>T (p.Val2125=)
10g.71815066G>ACA377138256CDH23c.9853G>A (p.Val3285Met)
c.3786G>A (n.3786G>A)
c.3345G>A (n.3345G>A)
c.9868G>A (p.Val3290Met)
c.3133G>A (p.Val1045Met)
n.3284G>A
c.3028G>A (p.Val1010Met)
c.544G>A (p.Val182Met)
c.439G>A (p.Val147Met)
c.10048G>A (p.Val3350Met)
c.9982G>A (p.Val3328Met)
c.10045G>A (p.Val3349Met)
c.10042G>A (p.Val3348Met)
c.9988G>A (p.Val3330Met)
c.9958G>A (p.Val3320Met)
c.9943G>A (p.Val3315Met)
c.9913G>A (p.Val3305Met)
c.9508G>A (p.Val3170Met)
c.8866G>A (p.Val2956Met)
c.6376G>A (p.Val2126Met)
10g.71815066G>CCA377138260CDH23c.9853G>C (p.Val3285Leu)
c.3786G>C (n.3786G>C)
c.3345G>C (n.3345G>C)
c.9868G>C (p.Val3290Leu)
c.3133G>C (p.Val1045Leu)
n.3284G>C
c.3028G>C (p.Val1010Leu)
c.544G>C (p.Val182Leu)
c.439G>C (p.Val147Leu)
c.10048G>C (p.Val3350Leu)
c.9982G>C (p.Val3328Leu)
c.10045G>C (p.Val3349Leu)
c.10042G>C (p.Val3348Leu)
c.9988G>C (p.Val3330Leu)
c.9958G>C (p.Val3320Leu)
c.9943G>C (p.Val3315Leu)
c.9913G>C (p.Val3305Leu)
c.9508G>C (p.Val3170Leu)
c.8866G>C (p.Val2956Leu)
c.6376G>C (p.Val2126Leu)
10g.71815066G>TCA377138257CDH23c.9853G>T (p.Val3285Leu)
c.3786G>T (n.3786G>T)
c.3345G>T (n.3345G>T)
c.9868G>T (p.Val3290Leu)
c.3133G>T (p.Val1045Leu)
n.3284G>T
c.3028G>T (p.Val1010Leu)
c.544G>T (p.Val182Leu)
c.439G>T (p.Val147Leu)
c.10048G>T (p.Val3350Leu)
c.9982G>T (p.Val3328Leu)
c.10045G>T (p.Val3349Leu)
c.10042G>T (p.Val3348Leu)
c.9988G>T (p.Val3330Leu)
c.9958G>T (p.Val3320Leu)
c.9943G>T (p.Val3315Leu)
c.9913G>T (p.Val3305Leu)
c.9508G>T (p.Val3170Leu)
c.8866G>T (p.Val2956Leu)
c.6376G>T (p.Val2126Leu)
10g.71815067T>ACA377138262CDH23c.9854T>A (p.Val3285Glu)
c.3787T>A (n.3787T>A)
c.3346T>A (n.3346T>A)
c.9869T>A (p.Val3290Glu)
c.3134T>A (p.Val1045Glu)
n.3285T>A
c.3029T>A (p.Val1010Glu)
c.545T>A (p.Val182Glu)
c.440T>A (p.Val147Glu)
c.10049T>A (p.Val3350Glu)
c.9983T>A (p.Val3328Glu)
c.10046T>A (p.Val3349Glu)
c.10043T>A (p.Val3348Glu)
c.9989T>A (p.Val3330Glu)
c.9959T>A (p.Val3320Glu)
c.9944T>A (p.Val3315Glu)
c.9914T>A (p.Val3305Glu)
c.9509T>A (p.Val3170Glu)
c.8867T>A (p.Val2956Glu)
c.6377T>A (p.Val2126Glu)
10g.71815067T>CCA5547187CDH23c.9854T>C (p.Val3285Ala)
c.3787T>C (n.3787T>C)
c.3346T>C (n.3346T>C)
c.9869T>C (p.Val3290Ala)
c.3134T>C (p.Val1045Ala)
n.3285T>C
c.3029T>C (p.Val1010Ala)
c.545T>C (p.Val182Ala)
c.440T>C (p.Val147Ala)
c.10049T>C (p.Val3350Ala)
c.9983T>C (p.Val3328Ala)
c.10046T>C (p.Val3349Ala)
c.10043T>C (p.Val3348Ala)
c.9989T>C (p.Val3330Ala)
c.9959T>C (p.Val3320Ala)
c.9944T>C (p.Val3315Ala)
c.9914T>C (p.Val3305Ala)
c.9509T>C (p.Val3170Ala)
c.8867T>C (p.Val2956Ala)
c.6377T>C (p.Val2126Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71815067T>GCA377138263CDH23c.9854T>G (p.Val3285Gly)
c.3787T>G (n.3787T>G)
c.3346T>G (n.3346T>G)
c.9869T>G (p.Val3290Gly)
c.3134T>G (p.Val1045Gly)
n.3285T>G
c.3029T>G (p.Val1010Gly)
c.545T>G (p.Val182Gly)
c.440T>G (p.Val147Gly)
c.10049T>G (p.Val3350Gly)
c.9983T>G (p.Val3328Gly)
c.10046T>G (p.Val3349Gly)
c.10043T>G (p.Val3348Gly)
c.9989T>G (p.Val3330Gly)
c.9959T>G (p.Val3320Gly)
c.9944T>G (p.Val3315Gly)
c.9914T>G (p.Val3305Gly)
c.9509T>G (p.Val3170Gly)
c.8867T>G (p.Val2956Gly)
c.6377T>G (p.Val2126Gly)
 dbSNP
10g.71815067T=CA1918895652CDH23c.9854T= (p.Val3285=)
c.3787T= (n.3787T=)
c.3346T= (n.3346T=)
c.9869T= (p.Val3290=)
c.3134T= (p.Val1045=)
n.3285T=
c.3029T= (p.Val1010=)
c.545T= (p.Val182=)
c.440T= (p.Val147=)
c.10049T= (p.Val3350=)
c.9983T= (p.Val3328=)
c.10046T= (p.Val3349=)
c.10043T= (p.Val3348=)
c.9989T= (p.Val3330=)
c.9959T= (p.Val3320=)
c.9944T= (p.Val3315=)
c.9914T= (p.Val3305=)
c.9509T= (p.Val3170=)
c.8867T= (p.Val2956=)
c.6377T= (p.Val2126=)
10g.71815068G>ACA5547188CDH23c.9855G>A (p.Val3285=)
c.3788G>A (n.3788G>A)
c.3347G>A (n.3347G>A)
c.9870G>A (p.Val3290=)
c.3135G>A (p.Val1045=)
n.3286G>A
c.3030G>A (p.Val1010=)
c.546G>A (p.Val182=)
c.441G>A (p.Val147=)
c.10050G>A (p.Val3350=)
c.9984G>A (p.Val3328=)
c.10047G>A (p.Val3349=)
c.10044G>A (p.Val3348=)
c.9990G>A (p.Val3330=)
c.9960G>A (p.Val3320=)
c.9945G>A (p.Val3315=)
c.9915G>A (p.Val3305=)
c.9510G>A (p.Val3170=)
c.8868G>A (p.Val2956=)
c.6378G>A (p.Val2126=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815068G>CCA470283231CDH23c.9855G>C (p.Val3285=)
c.3788G>C (n.3788G>C)
c.3347G>C (n.3347G>C)
c.9870G>C (p.Val3290=)
c.3135G>C (p.Val1045=)
n.3286G>C
c.3030G>C (p.Val1010=)
c.546G>C (p.Val182=)
c.441G>C (p.Val147=)
c.10050G>C (p.Val3350=)
c.9984G>C (p.Val3328=)
c.10047G>C (p.Val3349=)
c.10044G>C (p.Val3348=)
c.9990G>C (p.Val3330=)
c.9960G>C (p.Val3320=)
c.9945G>C (p.Val3315=)
c.9915G>C (p.Val3305=)
c.9510G>C (p.Val3170=)
c.8868G>C (p.Val2956=)
c.6378G>C (p.Val2126=)
10g.71815068G=CA1918895654CDH23c.9855G= (p.Val3285=)
c.3788G= (n.3788G=)
c.3347G= (n.3347G=)
c.9870G= (p.Val3290=)
c.3135G= (p.Val1045=)
n.3286G=
c.3030G= (p.Val1010=)
c.546G= (p.Val182=)
c.441G= (p.Val147=)
c.10050G= (p.Val3350=)
c.9984G= (p.Val3328=)
c.10047G= (p.Val3349=)
c.10044G= (p.Val3348=)
c.9990G= (p.Val3330=)
c.9960G= (p.Val3320=)
c.9945G= (p.Val3315=)
c.9915G= (p.Val3305=)
c.9510G= (p.Val3170=)
c.8868G= (p.Val2956=)
c.6378G= (p.Val2126=)
10g.71815068G>TCA470283232CDH23c.9855G>T (p.Val3285=)
c.3788G>T (n.3788G>T)
c.3347G>T (n.3347G>T)
c.9870G>T (p.Val3290=)
c.3135G>T (p.Val1045=)
n.3286G>T
c.3030G>T (p.Val1010=)
c.546G>T (p.Val182=)
c.441G>T (p.Val147=)
c.10050G>T (p.Val3350=)
c.9984G>T (p.Val3328=)
c.10047G>T (p.Val3349=)
c.10044G>T (p.Val3348=)
c.9990G>T (p.Val3330=)
c.9960G>T (p.Val3320=)
c.9945G>T (p.Val3315=)
c.9915G>T (p.Val3305=)
c.9510G>T (p.Val3170=)
c.8868G>T (p.Val2956=)
c.6378G>T (p.Val2126=)
10g.71815069C>ACA377138267CDH23c.9856C>A (p.His3286Asn)
c.3789C>A (n.3789C>A)
c.3348C>A (n.3348C>A)
c.9871C>A (p.His3291Asn)
c.3136C>A (p.His1046Asn)
n.3287C>A
c.3031C>A (p.His1011Asn)
c.547C>A (p.His183Asn)
c.442C>A (p.His148Asn)
c.10051C>A (p.His3351Asn)
c.9985C>A (p.His3329Asn)
c.10048C>A (p.His3350Asn)
c.10045C>A (p.His3349Asn)
c.9991C>A (p.His3331Asn)
c.9961C>A (p.His3321Asn)
c.9946C>A (p.His3316Asn)
c.9916C>A (p.His3306Asn)
c.9511C>A (p.His3171Asn)
c.8869C>A (p.His2957Asn)
c.6379C>A (p.His2127Asn)
10g.71815069C=CA1918895659CDH23c.9856C= (p.His3286=)
c.3789C= (n.3789C=)
c.3348C= (n.3348C=)
c.9871C= (p.His3291=)
c.3136C= (p.His1046=)
n.3287C=
c.3031C= (p.His1011=)
c.547C= (p.His183=)
c.442C= (p.His148=)
c.10051C= (p.His3351=)
c.9985C= (p.His3329=)
c.10048C= (p.His3350=)
c.10045C= (p.His3349=)
c.9991C= (p.His3331=)
c.9961C= (p.His3321=)
c.9946C= (p.His3316=)
c.9916C= (p.His3306=)
c.9511C= (p.His3171=)
c.8869C= (p.His2957=)
c.6379C= (p.His2127=)
10g.71815069C>GCA377138269CDH23c.9856C>G (p.His3286Asp)
c.3789C>G (n.3789C>G)
c.3348C>G (n.3348C>G)
c.9871C>G (p.His3291Asp)
c.3136C>G (p.His1046Asp)
n.3287C>G
c.3031C>G (p.His1011Asp)
c.547C>G (p.His183Asp)
c.442C>G (p.His148Asp)
c.10051C>G (p.His3351Asp)
c.9985C>G (p.His3329Asp)
c.10048C>G (p.His3350Asp)
c.10045C>G (p.His3349Asp)
c.9991C>G (p.His3331Asp)
c.9961C>G (p.His3321Asp)
c.9946C>G (p.His3316Asp)
c.9916C>G (p.His3306Asp)
c.9511C>G (p.His3171Asp)
c.8869C>G (p.His2957Asp)
c.6379C>G (p.His2127Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71815069C>TCA377138270CDH23c.9856C>T (p.His3286Tyr)
c.3789C>T (n.3789C>T)
c.3348C>T (n.3348C>T)
c.9871C>T (p.His3291Tyr)
c.3136C>T (p.His1046Tyr)
n.3287C>T
c.3031C>T (p.His1011Tyr)
c.547C>T (p.His183Tyr)
c.442C>T (p.His148Tyr)
c.10051C>T (p.His3351Tyr)
c.9985C>T (p.His3329Tyr)
c.10048C>T (p.His3350Tyr)
c.10045C>T (p.His3349Tyr)
c.9991C>T (p.His3331Tyr)
c.9961C>T (p.His3321Tyr)
c.9946C>T (p.His3316Tyr)
c.9916C>T (p.His3306Tyr)
c.9511C>T (p.His3171Tyr)
c.8869C>T (p.His2957Tyr)
c.6379C>T (p.His2127Tyr)
 dbSNP gnomAD v4
10g.71815070A=CA1918895665CDH23c.9857A= (p.His3286=)
c.3790A= (n.3790A=)
c.3349A= (n.3349A=)
c.9872A= (p.His3291=)
c.3137A= (p.His1046=)
n.3288A=
c.3032A= (p.His1011=)
c.548A= (p.His183=)
c.443A= (p.His148=)
c.10052A= (p.His3351=)
c.9986A= (p.His3329=)
c.10049A= (p.His3350=)
c.10046A= (p.His3349=)
c.9992A= (p.His3331=)
c.9962A= (p.His3321=)
c.9947A= (p.His3316=)
c.9917A= (p.His3306=)
c.9512A= (p.His3171=)
c.8870A= (p.His2957=)
c.6380A= (p.His2127=)
10g.71815070A>CCA377138272CDH23c.9857A>C (p.His3286Pro)
c.3790A>C (n.3790A>C)
c.3349A>C (n.3349A>C)
c.9872A>C (p.His3291Pro)
c.3137A>C (p.His1046Pro)
n.3288A>C
c.3032A>C (p.His1011Pro)
c.548A>C (p.His183Pro)
c.443A>C (p.His148Pro)
c.10052A>C (p.His3351Pro)
c.9986A>C (p.His3329Pro)
c.10049A>C (p.His3350Pro)
c.10046A>C (p.His3349Pro)
c.9992A>C (p.His3331Pro)
c.9962A>C (p.His3321Pro)
c.9947A>C (p.His3316Pro)
c.9917A>C (p.His3306Pro)
c.9512A>C (p.His3171Pro)
c.8870A>C (p.His2957Pro)
c.6380A>C (p.His2127Pro)
 gnomAD v4
10g.71815070A>GCA5547189CDH23c.9857A>G (p.His3286Arg)
c.3790A>G (n.3790A>G)
c.3349A>G (n.3349A>G)
c.9872A>G (p.His3291Arg)
c.3137A>G (p.His1046Arg)
n.3288A>G
c.3032A>G (p.His1011Arg)
c.548A>G (p.His183Arg)
c.443A>G (p.His148Arg)
c.10052A>G (p.His3351Arg)
c.9986A>G (p.His3329Arg)
c.10049A>G (p.His3350Arg)
c.10046A>G (p.His3349Arg)
c.9992A>G (p.His3331Arg)
c.9962A>G (p.His3321Arg)
c.9947A>G (p.His3316Arg)
c.9917A>G (p.His3306Arg)
c.9512A>G (p.His3171Arg)
c.8870A>G (p.His2957Arg)
c.6380A>G (p.His2127Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71815070A>TCA377138273CDH23c.9857A>T (p.His3286Leu)
c.3790A>T (n.3790A>T)
c.3349A>T (n.3349A>T)
c.9872A>T (p.His3291Leu)
c.3137A>T (p.His1046Leu)
n.3288A>T
c.3032A>T (p.His1011Leu)
c.548A>T (p.His183Leu)
c.443A>T (p.His148Leu)
c.10052A>T (p.His3351Leu)
c.9986A>T (p.His3329Leu)
c.10049A>T (p.His3350Leu)
c.10046A>T (p.His3349Leu)
c.9992A>T (p.His3331Leu)
c.9962A>T (p.His3321Leu)
c.9947A>T (p.His3316Leu)
c.9917A>T (p.His3306Leu)
c.9512A>T (p.His3171Leu)
c.8870A>T (p.His2957Leu)
c.6380A>T (p.His2127Leu)
10g.71815071C>ACA5547191CDH23c.9858C>A (p.His3286Gln)
c.3791C>A (n.3791C>A)
c.3350C>A (n.3350C>A)
c.9873C>A (p.His3291Gln)
c.3138C>A (p.His1046Gln)
n.3289C>A
c.3033C>A (p.His1011Gln)
c.549C>A (p.His183Gln)
c.444C>A (p.His148Gln)
c.10053C>A (p.His3351Gln)
c.9987C>A (p.His3329Gln)
c.10050C>A (p.His3350Gln)
c.10047C>A (p.His3349Gln)
c.9993C>A (p.His3331Gln)
c.9963C>A (p.His3321Gln)
c.9948C>A (p.His3316Gln)
c.9918C>A (p.His3306Gln)
c.9513C>A (p.His3171Gln)
c.8871C>A (p.His2957Gln)
c.6381C>A (p.His2127Gln)
 dbSNP ExAC gnomAD v4
10g.71815071C=CA1918895672CDH23c.9858C= (p.His3286=)
c.3791C= (n.3791C=)
c.3350C= (n.3350C=)
c.9873C= (p.His3291=)
c.3138C= (p.His1046=)
n.3289C=
c.3033C= (p.His1011=)
c.549C= (p.His183=)
c.444C= (p.His148=)
c.10053C= (p.His3351=)
c.9987C= (p.His3329=)
c.10050C= (p.His3350=)
c.10047C= (p.His3349=)
c.9993C= (p.His3331=)
c.9963C= (p.His3321=)
c.9948C= (p.His3316=)
c.9918C= (p.His3306=)
c.9513C= (p.His3171=)
c.8871C= (p.His2957=)
c.6381C= (p.His2127=)
10g.71815071C>GCA377138274CDH23c.9858C>G (p.His3286Gln)
c.3791C>G (n.3791C>G)
c.3350C>G (n.3350C>G)
c.9873C>G (p.His3291Gln)
c.3138C>G (p.His1046Gln)
n.3289C>G
c.3033C>G (p.His1011Gln)
c.549C>G (p.His183Gln)
c.444C>G (p.His148Gln)
c.10053C>G (p.His3351Gln)
c.9987C>G (p.His3329Gln)
c.10050C>G (p.His3350Gln)
c.10047C>G (p.His3349Gln)
c.9993C>G (p.His3331Gln)
c.9963C>G (p.His3321Gln)
c.9948C>G (p.His3316Gln)
c.9918C>G (p.His3306Gln)
c.9513C>G (p.His3171Gln)
c.8871C>G (p.His2957Gln)
c.6381C>G (p.His2127Gln)
10g.71815071C>TCA5547190CDH23c.9858C>T (p.His3286=)
c.3791C>T (n.3791C>T)
c.3350C>T (n.3350C>T)
c.9873C>T (p.His3291=)
c.3138C>T (p.His1046=)
n.3289C>T
c.3033C>T (p.His1011=)
c.549C>T (p.His183=)
c.444C>T (p.His148=)
c.10053C>T (p.His3351=)
c.9987C>T (p.His3329=)
c.10050C>T (p.His3350=)
c.10047C>T (p.His3349=)
c.9993C>T (p.His3331=)
c.9963C>T (p.His3321=)
c.9948C>T (p.His3316=)
c.9918C>T (p.His3306=)
c.9513C>T (p.His3171=)
c.8871C>T (p.His2957=)
c.6381C>T (p.His2127=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71815072G>ACA5547192CDH23c.9859G>A (p.Gly3287Ser)
c.3792G>A (n.3792G>A)
c.3351G>A (n.3351G>A)
c.9874G>A (p.Gly3292Ser)
c.3139G>A (p.Gly1047Ser)
n.3290G>A
c.3034G>A (p.Gly1012Ser)
c.550G>A (p.Gly184Ser)
c.445G>A (p.Gly149Ser)
c.10054G>A (p.Gly3352Ser)
c.9988G>A (p.Gly3330Ser)
c.10051G>A (p.Gly3351Ser)
c.10048G>A (p.Gly3350Ser)
c.9994G>A (p.Gly3332Ser)
c.9964G>A (p.Gly3322Ser)
c.9949G>A (p.Gly3317Ser)
c.9919G>A (p.Gly3307Ser)
c.9514G>A (p.Gly3172Ser)
c.8872G>A (p.Gly2958Ser)
c.6382G>A (p.Gly2128Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815072G>CCA377138278CDH23c.9859G>C (p.Gly3287Arg)
c.3792G>C (n.3792G>C)
c.3351G>C (n.3351G>C)
c.9874G>C (p.Gly3292Arg)
c.3139G>C (p.Gly1047Arg)
n.3290G>C
c.3034G>C (p.Gly1012Arg)
c.550G>C (p.Gly184Arg)
c.445G>C (p.Gly149Arg)
c.10054G>C (p.Gly3352Arg)
c.9988G>C (p.Gly3330Arg)
c.10051G>C (p.Gly3351Arg)
c.10048G>C (p.Gly3350Arg)
c.9994G>C (p.Gly3332Arg)
c.9964G>C (p.Gly3322Arg)
c.9949G>C (p.Gly3317Arg)
c.9919G>C (p.Gly3307Arg)
c.9514G>C (p.Gly3172Arg)
c.8872G>C (p.Gly2958Arg)
c.6382G>C (p.Gly2128Arg)
 ClinVar dbSNP gnomAD v4
10g.71815072G=CA1918895681CDH23c.9859G= (p.Gly3287=)
c.3792G= (n.3792G=)
c.3351G= (n.3351G=)
c.9874G= (p.Gly3292=)
c.3139G= (p.Gly1047=)
n.3290G=
c.3034G= (p.Gly1012=)
c.550G= (p.Gly184=)
c.445G= (p.Gly149=)
c.10054G= (p.Gly3352=)
c.9988G= (p.Gly3330=)
c.10051G= (p.Gly3351=)
c.10048G= (p.Gly3350=)
c.9994G= (p.Gly3332=)
c.9964G= (p.Gly3322=)
c.9949G= (p.Gly3317=)
c.9919G= (p.Gly3307=)
c.9514G= (p.Gly3172=)
c.8872G= (p.Gly2958=)
c.6382G= (p.Gly2128=)
10g.71815072G>TCA377138276CDH23c.9859G>T (p.Gly3287Cys)
c.3792G>T (n.3792G>T)
c.3351G>T (n.3351G>T)
c.9874G>T (p.Gly3292Cys)
c.3139G>T (p.Gly1047Cys)
n.3290G>T
c.3034G>T (p.Gly1012Cys)
c.550G>T (p.Gly184Cys)
c.445G>T (p.Gly149Cys)
c.10054G>T (p.Gly3352Cys)
c.9988G>T (p.Gly3330Cys)
c.10051G>T (p.Gly3351Cys)
c.10048G>T (p.Gly3350Cys)
c.9994G>T (p.Gly3332Cys)
c.9964G>T (p.Gly3322Cys)
c.9949G>T (p.Gly3317Cys)
c.9919G>T (p.Gly3307Cys)
c.9514G>T (p.Gly3172Cys)
c.8872G>T (p.Gly2958Cys)
c.6382G>T (p.Gly2128Cys)
10g.71815073G>ACA5547193CDH23c.9860G>A (p.Gly3287Asp)
c.3793G>A (n.3793G>A)
c.3352G>A (n.3352G>A)
c.9875G>A (p.Gly3292Asp)
c.3140G>A (p.Gly1047Asp)
n.3291G>A
c.3035G>A (p.Gly1012Asp)
c.551G>A (p.Gly184Asp)
c.446G>A (p.Gly149Asp)
c.10055G>A (p.Gly3352Asp)
c.9989G>A (p.Gly3330Asp)
c.10052G>A (p.Gly3351Asp)
c.10049G>A (p.Gly3350Asp)
c.9995G>A (p.Gly3332Asp)
c.9965G>A (p.Gly3322Asp)
c.9950G>A (p.Gly3317Asp)
c.9920G>A (p.Gly3307Asp)
c.9515G>A (p.Gly3172Asp)
c.8873G>A (p.Gly2958Asp)
c.6383G>A (p.Gly2128Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815073G>CCA377138281CDH23c.9860G>C (p.Gly3287Ala)
c.3793G>C (n.3793G>C)
c.3352G>C (n.3352G>C)
c.9875G>C (p.Gly3292Ala)
c.3140G>C (p.Gly1047Ala)
n.3291G>C
c.3035G>C (p.Gly1012Ala)
c.551G>C (p.Gly184Ala)
c.446G>C (p.Gly149Ala)
c.10055G>C (p.Gly3352Ala)
c.9989G>C (p.Gly3330Ala)
c.10052G>C (p.Gly3351Ala)
c.10049G>C (p.Gly3350Ala)
c.9995G>C (p.Gly3332Ala)
c.9965G>C (p.Gly3322Ala)
c.9950G>C (p.Gly3317Ala)
c.9920G>C (p.Gly3307Ala)
c.9515G>C (p.Gly3172Ala)
c.8873G>C (p.Gly2958Ala)
c.6383G>C (p.Gly2128Ala)
 dbSNP gnomAD v4
10g.71815073G=CA1918895687CDH23c.9860G= (p.Gly3287=)
c.3793G= (n.3793G=)
c.3352G= (n.3352G=)
c.9875G= (p.Gly3292=)
c.3140G= (p.Gly1047=)
n.3291G=
c.3035G= (p.Gly1012=)
c.551G= (p.Gly184=)
c.446G= (p.Gly149=)
c.10055G= (p.Gly3352=)
c.9989G= (p.Gly3330=)
c.10052G= (p.Gly3351=)
c.10049G= (p.Gly3350=)
c.9995G= (p.Gly3332=)
c.9965G= (p.Gly3322=)
c.9950G= (p.Gly3317=)
c.9920G= (p.Gly3307=)
c.9515G= (p.Gly3172=)
c.8873G= (p.Gly2958=)
c.6383G= (p.Gly2128=)
10g.71815073G>TCA377138282CDH23c.9860G>T (p.Gly3287Val)
c.3793G>T (n.3793G>T)
c.3352G>T (n.3352G>T)
c.9875G>T (p.Gly3292Val)
c.3140G>T (p.Gly1047Val)
n.3291G>T
c.3035G>T (p.Gly1012Val)
c.551G>T (p.Gly184Val)
c.446G>T (p.Gly149Val)
c.10055G>T (p.Gly3352Val)
c.9989G>T (p.Gly3330Val)
c.10052G>T (p.Gly3351Val)
c.10049G>T (p.Gly3350Val)
c.9995G>T (p.Gly3332Val)
c.9965G>T (p.Gly3322Val)
c.9950G>T (p.Gly3317Val)
c.9920G>T (p.Gly3307Val)
c.9515G>T (p.Gly3172Val)
c.8873G>T (p.Gly2958Val)
c.6383G>T (p.Gly2128Val)
10g.71815074C>ACA470283236CDH23c.9861C>A (p.Gly3287=)
c.3794C>A (n.3794C>A)
c.3353C>A (n.3353C>A)
c.9876C>A (p.Gly3292=)
c.3141C>A (p.Gly1047=)
n.3292C>A
c.3036C>A (p.Gly1012=)
c.552C>A (p.Gly184=)
c.447C>A (p.Gly149=)
c.10056C>A (p.Gly3352=)
c.9990C>A (p.Gly3330=)
c.10053C>A (p.Gly3351=)
c.10050C>A (p.Gly3350=)
c.9996C>A (p.Gly3332=)
c.9966C>A (p.Gly3322=)
c.9951C>A (p.Gly3317=)
c.9921C>A (p.Gly3307=)
c.9516C>A (p.Gly3172=)
c.8874C>A (p.Gly2958=)
c.6384C>A (p.Gly2128=)
 gnomAD v4
10g.71815074C>GCA470283237CDH23c.9861C>G (p.Gly3287=)
c.3794C>G (n.3794C>G)
c.3353C>G (n.3353C>G)
c.9876C>G (p.Gly3292=)
c.3141C>G (p.Gly1047=)
n.3292C>G
c.3036C>G (p.Gly1012=)
c.552C>G (p.Gly184=)
c.447C>G (p.Gly149=)
c.10056C>G (p.Gly3352=)
c.9990C>G (p.Gly3330=)
c.10053C>G (p.Gly3351=)
c.10050C>G (p.Gly3350=)
c.9996C>G (p.Gly3332=)
c.9966C>G (p.Gly3322=)
c.9951C>G (p.Gly3317=)
c.9921C>G (p.Gly3307=)
c.9516C>G (p.Gly3172=)
c.8874C>G (p.Gly2958=)
c.6384C>G (p.Gly2128=)
10g.71815074C>TCA470283238CDH23c.9861C>T (p.Gly3287=)
c.3794C>T (n.3794C>T)
c.3353C>T (n.3353C>T)
c.9876C>T (p.Gly3292=)
c.3141C>T (p.Gly1047=)
n.3292C>T
c.3036C>T (p.Gly1012=)
c.552C>T (p.Gly184=)
c.447C>T (p.Gly149=)
c.10056C>T (p.Gly3352=)
c.9990C>T (p.Gly3330=)
c.10053C>T (p.Gly3351=)
c.10050C>T (p.Gly3350=)
c.9996C>T (p.Gly3332=)
c.9966C>T (p.Gly3322=)
c.9951C>T (p.Gly3317=)
c.9921C>T (p.Gly3307=)
c.9516C>T (p.Gly3172=)
c.8874C>T (p.Gly2958=)
c.6384C>T (p.Gly2128=)
 dbSNP
10g.71815075A>CCA377138284CDH23c.9862A>C (p.Ser3288Arg)
c.3795A>C (n.3795A>C)
c.3354A>C (n.3354A>C)
c.9877A>C (p.Ser3293Arg)
c.3142A>C (p.Ser1048Arg)
n.3293A>C
c.3037A>C (p.Ser1013Arg)
c.553A>C (p.Ser185Arg)
c.448A>C (p.Ser150Arg)
c.10057A>C (p.Ser3353Arg)
c.9991A>C (p.Ser3331Arg)
c.10054A>C (p.Ser3352Arg)
c.10051A>C (p.Ser3351Arg)
c.9997A>C (p.Ser3333Arg)
c.9967A>C (p.Ser3323Arg)
c.9952A>C (p.Ser3318Arg)
c.9922A>C (p.Ser3308Arg)
c.9517A>C (p.Ser3173Arg)
c.8875A>C (p.Ser2959Arg)
c.6385A>C (p.Ser2129Arg)
10g.71815075A>GCA377138286CDH23c.9862A>G (p.Ser3288Gly)
c.3795A>G (n.3795A>G)
c.3354A>G (n.3354A>G)
c.9877A>G (p.Ser3293Gly)
c.3142A>G (p.Ser1048Gly)
n.3293A>G
c.3037A>G (p.Ser1013Gly)
c.553A>G (p.Ser185Gly)
c.448A>G (p.Ser150Gly)
c.10057A>G (p.Ser3353Gly)
c.9991A>G (p.Ser3331Gly)
c.10054A>G (p.Ser3352Gly)
c.10051A>G (p.Ser3351Gly)
c.9997A>G (p.Ser3333Gly)
c.9967A>G (p.Ser3323Gly)
c.9952A>G (p.Ser3318Gly)
c.9922A>G (p.Ser3308Gly)
c.9517A>G (p.Ser3173Gly)
c.8875A>G (p.Ser2959Gly)
c.6385A>G (p.Ser2129Gly)
10g.71815075A>TCA377138288CDH23c.9862A>T (p.Ser3288Cys)
c.3795A>T (n.3795A>T)
c.3354A>T (n.3354A>T)
c.9877A>T (p.Ser3293Cys)
c.3142A>T (p.Ser1048Cys)
n.3293A>T
c.3037A>T (p.Ser1013Cys)
c.553A>T (p.Ser185Cys)
c.448A>T (p.Ser150Cys)
c.10057A>T (p.Ser3353Cys)
c.9991A>T (p.Ser3331Cys)
c.10054A>T (p.Ser3352Cys)
c.10051A>T (p.Ser3351Cys)
c.9997A>T (p.Ser3333Cys)
c.9967A>T (p.Ser3323Cys)
c.9952A>T (p.Ser3318Cys)
c.9922A>T (p.Ser3308Cys)
c.9517A>T (p.Ser3173Cys)
c.8875A>T (p.Ser2959Cys)
c.6385A>T (p.Ser2129Cys)
10g.71815076G>ACA377138290CDH23c.9863G>A (p.Ser3288Asn)
c.3796G>A (n.3796G>A)
c.3355G>A (n.3355G>A)
c.9878G>A (p.Ser3293Asn)
c.3143G>A (p.Ser1048Asn)
n.3294G>A
c.3038G>A (p.Ser1013Asn)
c.554G>A (p.Ser185Asn)
c.449G>A (p.Ser150Asn)
c.10058G>A (p.Ser3353Asn)
c.9992G>A (p.Ser3331Asn)
c.10055G>A (p.Ser3352Asn)
c.10052G>A (p.Ser3351Asn)
c.9998G>A (p.Ser3333Asn)
c.9968G>A (p.Ser3323Asn)
c.9953G>A (p.Ser3318Asn)
c.9923G>A (p.Ser3308Asn)
c.9518G>A (p.Ser3173Asn)
c.8876G>A (p.Ser2959Asn)
c.6386G>A (p.Ser2129Asn)
 dbSNP
10g.71815076G>CCA377138291CDH23c.9863G>C (p.Ser3288Thr)
c.3796G>C (n.3796G>C)
c.3355G>C (n.3355G>C)
c.9878G>C (p.Ser3293Thr)
c.3143G>C (p.Ser1048Thr)
n.3294G>C
c.3038G>C (p.Ser1013Thr)
c.554G>C (p.Ser185Thr)
c.449G>C (p.Ser150Thr)
c.10058G>C (p.Ser3353Thr)
c.9992G>C (p.Ser3331Thr)
c.10055G>C (p.Ser3352Thr)
c.10052G>C (p.Ser3351Thr)
c.9998G>C (p.Ser3333Thr)
c.9968G>C (p.Ser3323Thr)
c.9953G>C (p.Ser3318Thr)
c.9923G>C (p.Ser3308Thr)
c.9518G>C (p.Ser3173Thr)
c.8876G>C (p.Ser2959Thr)
c.6386G>C (p.Ser2129Thr)
 gnomAD v4
10g.71815076G>TCA377138293CDH23c.9863G>T (p.Ser3288Ile)
c.3796G>T (n.3796G>T)
c.3355G>T (n.3355G>T)
c.9878G>T (p.Ser3293Ile)
c.3143G>T (p.Ser1048Ile)
n.3294G>T
c.3038G>T (p.Ser1013Ile)
c.554G>T (p.Ser185Ile)
c.449G>T (p.Ser150Ile)
c.10058G>T (p.Ser3353Ile)
c.9992G>T (p.Ser3331Ile)
c.10055G>T (p.Ser3352Ile)
c.10052G>T (p.Ser3351Ile)
c.9998G>T (p.Ser3333Ile)
c.9968G>T (p.Ser3323Ile)
c.9953G>T (p.Ser3318Ile)
c.9923G>T (p.Ser3308Ile)
c.9518G>T (p.Ser3173Ile)
c.8876G>T (p.Ser2959Ile)
c.6386G>T (p.Ser2129Ile)
 gnomAD v4
10g.71815077C>ACA377138295CDH23c.9864C>A (p.Ser3288Arg)
c.3797C>A (n.3797C>A)
c.3356C>A (n.3356C>A)
c.9879C>A (p.Ser3293Arg)
c.3144C>A (p.Ser1048Arg)
n.3295C>A
c.3039C>A (p.Ser1013Arg)
c.555C>A (p.Ser185Arg)
c.450C>A (p.Ser150Arg)
c.10059C>A (p.Ser3353Arg)
c.9993C>A (p.Ser3331Arg)
c.10056C>A (p.Ser3352Arg)
c.10053C>A (p.Ser3351Arg)
c.9999C>A (p.Ser3333Arg)
c.9969C>A (p.Ser3323Arg)
c.9954C>A (p.Ser3318Arg)
c.9924C>A (p.Ser3308Arg)
c.9519C>A (p.Ser3173Arg)
c.8877C>A (p.Ser2959Arg)
c.6387C>A (p.Ser2129Arg)
 COSMIC
10g.71815077C=CA1918895691CDH23c.9864C= (p.Ser3288=)
c.3797C= (n.3797C=)
c.3356C= (n.3356C=)
c.9879C= (p.Ser3293=)
c.3144C= (p.Ser1048=)
n.3295C=
c.3039C= (p.Ser1013=)
c.555C= (p.Ser185=)
c.450C= (p.Ser150=)
c.10059C= (p.Ser3353=)
c.9993C= (p.Ser3331=)
c.10056C= (p.Ser3352=)
c.10053C= (p.Ser3351=)
c.9999C= (p.Ser3333=)
c.9969C= (p.Ser3323=)
c.9954C= (p.Ser3318=)
c.9924C= (p.Ser3308=)
c.9519C= (p.Ser3173=)
c.8877C= (p.Ser2959=)
c.6387C= (p.Ser2129=)
10g.71815077C>GCA377138296CDH23c.9864C>G (p.Ser3288Arg)
c.3797C>G (n.3797C>G)
c.3356C>G (n.3356C>G)
c.9879C>G (p.Ser3293Arg)
c.3144C>G (p.Ser1048Arg)
n.3295C>G
c.3039C>G (p.Ser1013Arg)
c.555C>G (p.Ser185Arg)
c.450C>G (p.Ser150Arg)
c.10059C>G (p.Ser3353Arg)
c.9993C>G (p.Ser3331Arg)
c.10056C>G (p.Ser3352Arg)
c.10053C>G (p.Ser3351Arg)
c.9999C>G (p.Ser3333Arg)
c.9969C>G (p.Ser3323Arg)
c.9954C>G (p.Ser3318Arg)
c.9924C>G (p.Ser3308Arg)
c.9519C>G (p.Ser3173Arg)
c.8877C>G (p.Ser2959Arg)
c.6387C>G (p.Ser2129Arg)
 dbSNP gnomAD v2 gnomAD v4
10g.71815077C>TCA470283243CDH23c.9864C>T (p.Ser3288=)
c.3797C>T (n.3797C>T)
c.3356C>T (n.3356C>T)
c.9879C>T (p.Ser3293=)
c.3144C>T (p.Ser1048=)
n.3295C>T
c.3039C>T (p.Ser1013=)
c.555C>T (p.Ser185=)
c.450C>T (p.Ser150=)
c.10059C>T (p.Ser3353=)
c.9993C>T (p.Ser3331=)
c.10056C>T (p.Ser3352=)
c.10053C>T (p.Ser3351=)
c.9999C>T (p.Ser3333=)
c.9969C>T (p.Ser3323=)
c.9954C>T (p.Ser3318=)
c.9924C>T (p.Ser3308=)
c.9519C>T (p.Ser3173=)
c.8877C>T (p.Ser2959=)
c.6387C>T (p.Ser2129=)
 dbSNP
10g.71815078A=CA1918895694CDH23c.9865A= (p.Thr3289=)
c.3798A= (n.3798A=)
c.3357A= (n.3357A=)
c.9880A= (p.Thr3294=)
c.3145A= (p.Thr1049=)
n.3296A=
c.3040A= (p.Thr1014=)
c.556A= (p.Thr186=)
c.451A= (p.Thr151=)
c.10060A= (p.Thr3354=)
c.9994A= (p.Thr3332=)
c.10057A= (p.Thr3353=)
c.10054A= (p.Thr3352=)
c.10000A= (p.Thr3334=)
c.9970A= (p.Thr3324=)
c.9955A= (p.Thr3319=)
c.9925A= (p.Thr3309=)
c.9520A= (p.Thr3174=)
c.8878A= (p.Thr2960=)
c.6388A= (p.Thr2130=)
10g.71815078A>CCA377138299CDH23c.9865A>C (p.Thr3289Pro)
c.3798A>C (n.3798A>C)
c.3357A>C (n.3357A>C)
c.9880A>C (p.Thr3294Pro)
c.3145A>C (p.Thr1049Pro)
n.3296A>C
c.3040A>C (p.Thr1014Pro)
c.556A>C (p.Thr186Pro)
c.451A>C (p.Thr151Pro)
c.10060A>C (p.Thr3354Pro)
c.9994A>C (p.Thr3332Pro)
c.10057A>C (p.Thr3353Pro)
c.10054A>C (p.Thr3352Pro)
c.10000A>C (p.Thr3334Pro)
c.9970A>C (p.Thr3324Pro)
c.9955A>C (p.Thr3319Pro)
c.9925A>C (p.Thr3309Pro)
c.9520A>C (p.Thr3174Pro)
c.8878A>C (p.Thr2960Pro)
c.6388A>C (p.Thr2130Pro)
10g.71815078A>GCA5547194CDH23c.9865A>G (p.Thr3289Ala)
c.3798A>G (n.3798A>G)
c.3357A>G (n.3357A>G)
c.9880A>G (p.Thr3294Ala)
c.3145A>G (p.Thr1049Ala)
n.3296A>G
c.3040A>G (p.Thr1014Ala)
c.556A>G (p.Thr186Ala)
c.451A>G (p.Thr151Ala)
c.10060A>G (p.Thr3354Ala)
c.9994A>G (p.Thr3332Ala)
c.10057A>G (p.Thr3353Ala)
c.10054A>G (p.Thr3352Ala)
c.10000A>G (p.Thr3334Ala)
c.9970A>G (p.Thr3324Ala)
c.9955A>G (p.Thr3319Ala)
c.9925A>G (p.Thr3309Ala)
c.9520A>G (p.Thr3174Ala)
c.8878A>G (p.Thr2960Ala)
c.6388A>G (p.Thr2130Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815078A>TCA377138297CDH23c.9865A>T (p.Thr3289Ser)
c.3798A>T (n.3798A>T)
c.3357A>T (n.3357A>T)
c.9880A>T (p.Thr3294Ser)
c.3145A>T (p.Thr1049Ser)
n.3296A>T
c.3040A>T (p.Thr1014Ser)
c.556A>T (p.Thr186Ser)
c.451A>T (p.Thr151Ser)
c.10060A>T (p.Thr3354Ser)
c.9994A>T (p.Thr3332Ser)
c.10057A>T (p.Thr3353Ser)
c.10054A>T (p.Thr3352Ser)
c.10000A>T (p.Thr3334Ser)
c.9970A>T (p.Thr3324Ser)
c.9955A>T (p.Thr3319Ser)
c.9925A>T (p.Thr3309Ser)
c.9520A>T (p.Thr3174Ser)
c.8878A>T (p.Thr2960Ser)
c.6388A>T (p.Thr2130Ser)
10g.71815079C>ACA377138302CDH23c.9866C>A (p.Thr3289Lys)
c.3799C>A (n.3799C>A)
c.3358C>A (n.3358C>A)
c.9881C>A (p.Thr3294Lys)
c.3146C>A (p.Thr1049Lys)
n.3297C>A
c.3041C>A (p.Thr1014Lys)
c.557C>A (p.Thr186Lys)
c.452C>A (p.Thr151Lys)
c.10061C>A (p.Thr3354Lys)
c.9995C>A (p.Thr3332Lys)
c.10058C>A (p.Thr3353Lys)
c.10055C>A (p.Thr3352Lys)
c.10001C>A (p.Thr3334Lys)
c.9971C>A (p.Thr3324Lys)
c.9956C>A (p.Thr3319Lys)
c.9926C>A (p.Thr3309Lys)
c.9521C>A (p.Thr3174Lys)
c.8879C>A (p.Thr2960Lys)
c.6389C>A (p.Thr2130Lys)
10g.71815079C=CA1918895699CDH23c.9866C= (p.Thr3289=)
c.3799C= (n.3799C=)
c.3358C= (n.3358C=)
c.9881C= (p.Thr3294=)
c.3146C= (p.Thr1049=)
n.3297C=
c.3041C= (p.Thr1014=)
c.557C= (p.Thr186=)
c.452C= (p.Thr151=)
c.10061C= (p.Thr3354=)
c.9995C= (p.Thr3332=)
c.10058C= (p.Thr3353=)
c.10055C= (p.Thr3352=)
c.10001C= (p.Thr3334=)
c.9971C= (p.Thr3324=)
c.9956C= (p.Thr3319=)
c.9926C= (p.Thr3309=)
c.9521C= (p.Thr3174=)
c.8879C= (p.Thr2960=)
c.6389C= (p.Thr2130=)
10g.71815079C>GCA209447724CDH23c.9866C>G (p.Thr3289Arg)
c.3799C>G (n.3799C>G)
c.3358C>G (n.3358C>G)
c.9881C>G (p.Thr3294Arg)
c.3146C>G (p.Thr1049Arg)
n.3297C>G
c.3041C>G (p.Thr1014Arg)
c.557C>G (p.Thr186Arg)
c.452C>G (p.Thr151Arg)
c.10061C>G (p.Thr3354Arg)
c.9995C>G (p.Thr3332Arg)
c.10058C>G (p.Thr3353Arg)
c.10055C>G (p.Thr3352Arg)
c.10001C>G (p.Thr3334Arg)
c.9971C>G (p.Thr3324Arg)
c.9956C>G (p.Thr3319Arg)
c.9926C>G (p.Thr3309Arg)
c.9521C>G (p.Thr3174Arg)
c.8879C>G (p.Thr2960Arg)
c.6389C>G (p.Thr2130Arg)
 dbSNP
10g.71815079C>TCA377138306CDH23c.9866C>T (p.Thr3289Met)
c.3799C>T (n.3799C>T)
c.3358C>T (n.3358C>T)
c.9881C>T (p.Thr3294Met)
c.3146C>T (p.Thr1049Met)
n.3297C>T
c.3041C>T (p.Thr1014Met)
c.557C>T (p.Thr186Met)
c.452C>T (p.Thr151Met)
c.10061C>T (p.Thr3354Met)
c.9995C>T (p.Thr3332Met)
c.10058C>T (p.Thr3353Met)
c.10055C>T (p.Thr3352Met)
c.10001C>T (p.Thr3334Met)
c.9971C>T (p.Thr3324Met)
c.9956C>T (p.Thr3319Met)
c.9926C>T (p.Thr3309Met)
c.9521C>T (p.Thr3174Met)
c.8879C>T (p.Thr2960Met)
c.6389C>T (p.Thr2130Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71815080G>ACA5547195CDH23c.9867G>A (p.Thr3289=)
c.3800G>A (n.3800G>A)
c.3359G>A (n.3359G>A)
c.9882G>A (p.Thr3294=)
c.3147G>A (p.Thr1049=)
n.3298G>A
c.3042G>A (p.Thr1014=)
c.558G>A (p.Thr186=)
c.453G>A (p.Thr151=)
c.10062G>A (p.Thr3354=)
c.9996G>A (p.Thr3332=)
c.10059G>A (p.Thr3353=)
c.10056G>A (p.Thr3352=)
c.10002G>A (p.Thr3334=)
c.9972G>A (p.Thr3324=)
c.9957G>A (p.Thr3319=)
c.9927G>A (p.Thr3309=)
c.9522G>A (p.Thr3174=)
c.8880G>A (p.Thr2960=)
c.6390G>A (p.Thr2130=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815080G>CCA470283247CDH23c.9867G>C (p.Thr3289=)
c.3800G>C (n.3800G>C)
c.3359G>C (n.3359G>C)
c.9882G>C (p.Thr3294=)
c.3147G>C (p.Thr1049=)
n.3298G>C
c.3042G>C (p.Thr1014=)
c.558G>C (p.Thr186=)
c.453G>C (p.Thr151=)
c.10062G>C (p.Thr3354=)
c.9996G>C (p.Thr3332=)
c.10059G>C (p.Thr3353=)
c.10056G>C (p.Thr3352=)
c.10002G>C (p.Thr3334=)
c.9972G>C (p.Thr3324=)
c.9957G>C (p.Thr3319=)
c.9927G>C (p.Thr3309=)
c.9522G>C (p.Thr3174=)
c.8880G>C (p.Thr2960=)
c.6390G>C (p.Thr2130=)
 gnomAD v4
10g.71815080G=CA1918895707CDH23c.9867G= (p.Thr3289=)
c.3800G= (n.3800G=)
c.3359G= (n.3359G=)
c.9882G= (p.Thr3294=)
c.3147G= (p.Thr1049=)
n.3298G=
c.3042G= (p.Thr1014=)
c.558G= (p.Thr186=)
c.453G= (p.Thr151=)
c.10062G= (p.Thr3354=)
c.9996G= (p.Thr3332=)
c.10059G= (p.Thr3353=)
c.10056G= (p.Thr3352=)
c.10002G= (p.Thr3334=)
c.9972G= (p.Thr3324=)
c.9957G= (p.Thr3319=)
c.9927G= (p.Thr3309=)
c.9522G= (p.Thr3174=)
c.8880G= (p.Thr2960=)
c.6390G= (p.Thr2130=)
10g.71815080G>TCA470283246CDH23c.9867G>T (p.Thr3289=)
c.3800G>T (n.3800G>T)
c.3359G>T (n.3359G>T)
c.9882G>T (p.Thr3294=)
c.3147G>T (p.Thr1049=)
n.3298G>T
c.3042G>T (p.Thr1014=)
c.558G>T (p.Thr186=)
c.453G>T (p.Thr151=)
c.10062G>T (p.Thr3354=)
c.9996G>T (p.Thr3332=)
c.10059G>T (p.Thr3353=)
c.10056G>T (p.Thr3352=)
c.10002G>T (p.Thr3334=)
c.9972G>T (p.Thr3324=)
c.9957G>T (p.Thr3319=)
c.9927G>T (p.Thr3309=)
c.9522G>T (p.Thr3174=)
c.8880G>T (p.Thr2960=)
c.6390G>T (p.Thr2130=)
10g.71815081G>ACA377138309CDH23c.9868G>A (p.Gly3290Ser)
c.3801G>A (n.3801G>A)
c.3360G>A (n.3360G>A)
c.9883G>A (p.Gly3295Ser)
c.3148G>A (p.Gly1050Ser)
n.3299G>A
c.3043G>A (p.Gly1015Ser)
c.559G>A (p.Gly187Ser)
c.454G>A (p.Gly152Ser)
c.10063G>A (p.Gly3355Ser)
c.9997G>A (p.Gly3333Ser)
c.10060G>A (p.Gly3354Ser)
c.10057G>A (p.Gly3353Ser)
c.10003G>A (p.Gly3335Ser)
c.9973G>A (p.Gly3325Ser)
c.9958G>A (p.Gly3320Ser)
c.9928G>A (p.Gly3310Ser)
c.9523G>A (p.Gly3175Ser)
c.8881G>A (p.Gly2961Ser)
c.6391G>A (p.Gly2131Ser)
 dbSNP gnomAD v2 gnomAD v4
10g.71815081G>CCA377138310CDH23c.9868G>C (p.Gly3290Arg)
c.3801G>C (n.3801G>C)
c.3360G>C (n.3360G>C)
c.9883G>C (p.Gly3295Arg)
c.3148G>C (p.Gly1050Arg)
n.3299G>C
c.3043G>C (p.Gly1015Arg)
c.559G>C (p.Gly187Arg)
c.454G>C (p.Gly152Arg)
c.10063G>C (p.Gly3355Arg)
c.9997G>C (p.Gly3333Arg)
c.10060G>C (p.Gly3354Arg)
c.10057G>C (p.Gly3353Arg)
c.10003G>C (p.Gly3335Arg)
c.9973G>C (p.Gly3325Arg)
c.9958G>C (p.Gly3320Arg)
c.9928G>C (p.Gly3310Arg)
c.9523G>C (p.Gly3175Arg)
c.8881G>C (p.Gly2961Arg)
c.6391G>C (p.Gly2131Arg)
10g.71815081G=CA1918895710CDH23c.9868G= (p.Gly3290=)
c.3801G= (n.3801G=)
c.3360G= (n.3360G=)
c.9883G= (p.Gly3295=)
c.3148G= (p.Gly1050=)
n.3299G=
c.3043G= (p.Gly1015=)
c.559G= (p.Gly187=)
c.454G= (p.Gly152=)
c.10063G= (p.Gly3355=)
c.9997G= (p.Gly3333=)
c.10060G= (p.Gly3354=)
c.10057G= (p.Gly3353=)
c.10003G= (p.Gly3335=)
c.9973G= (p.Gly3325=)
c.9958G= (p.Gly3320=)
c.9928G= (p.Gly3310=)
c.9523G= (p.Gly3175=)
c.8881G= (p.Gly2961=)
c.6391G= (p.Gly2131=)
10g.71815081G>TCA377138311CDH23c.9868G>T (p.Gly3290Cys)
c.3801G>T (n.3801G>T)
c.3360G>T (n.3360G>T)
c.9883G>T (p.Gly3295Cys)
c.3148G>T (p.Gly1050Cys)
n.3299G>T
c.3043G>T (p.Gly1015Cys)
c.559G>T (p.Gly187Cys)
c.454G>T (p.Gly152Cys)
c.10063G>T (p.Gly3355Cys)
c.9997G>T (p.Gly3333Cys)
c.10060G>T (p.Gly3354Cys)
c.10057G>T (p.Gly3353Cys)
c.10003G>T (p.Gly3335Cys)
c.9973G>T (p.Gly3325Cys)
c.9958G>T (p.Gly3320Cys)
c.9928G>T (p.Gly3310Cys)
c.9523G>T (p.Gly3175Cys)
c.8881G>T (p.Gly2961Cys)
c.6391G>T (p.Gly2131Cys)
10g.71815082G>ACA377138312CDH23c.9869G>A (p.Gly3290Asp)
c.3802G>A (n.3802G>A)
c.3361G>A (n.3361G>A)
c.9884G>A (p.Gly3295Asp)
c.3149G>A (p.Gly1050Asp)
n.3300G>A
c.3044G>A (p.Gly1015Asp)
c.560G>A (p.Gly187Asp)
c.455G>A (p.Gly152Asp)
c.10064G>A (p.Gly3355Asp)
c.9998G>A (p.Gly3333Asp)
c.10061G>A (p.Gly3354Asp)
c.10058G>A (p.Gly3353Asp)
c.10004G>A (p.Gly3335Asp)
c.9974G>A (p.Gly3325Asp)
c.9959G>A (p.Gly3320Asp)
c.9929G>A (p.Gly3310Asp)
c.9524G>A (p.Gly3175Asp)
c.8882G>A (p.Gly2961Asp)
c.6392G>A (p.Gly2131Asp)
 dbSNP
10g.71815082G>CCA377138313CDH23c.9869G>C (p.Gly3290Ala)
c.3802G>C (n.3802G>C)
c.3361G>C (n.3361G>C)
c.9884G>C (p.Gly3295Ala)
c.3149G>C (p.Gly1050Ala)
n.3300G>C
c.3044G>C (p.Gly1015Ala)
c.560G>C (p.Gly187Ala)
c.455G>C (p.Gly152Ala)
c.10064G>C (p.Gly3355Ala)
c.9998G>C (p.Gly3333Ala)
c.10061G>C (p.Gly3354Ala)
c.10058G>C (p.Gly3353Ala)
c.10004G>C (p.Gly3335Ala)
c.9974G>C (p.Gly3325Ala)
c.9959G>C (p.Gly3320Ala)
c.9929G>C (p.Gly3310Ala)
c.9524G>C (p.Gly3175Ala)
c.8882G>C (p.Gly2961Ala)
c.6392G>C (p.Gly2131Ala)
10g.71815082G>TCA377138315CDH23c.9869G>T (p.Gly3290Val)
c.3802G>T (n.3802G>T)
c.3361G>T (n.3361G>T)
c.9884G>T (p.Gly3295Val)
c.3149G>T (p.Gly1050Val)
n.3300G>T
c.3044G>T (p.Gly1015Val)
c.560G>T (p.Gly187Val)
c.455G>T (p.Gly152Val)
c.10064G>T (p.Gly3355Val)
c.9998G>T (p.Gly3333Val)
c.10061G>T (p.Gly3354Val)
c.10058G>T (p.Gly3353Val)
c.10004G>T (p.Gly3335Val)
c.9974G>T (p.Gly3325Val)
c.9959G>T (p.Gly3320Val)
c.9929G>T (p.Gly3310Val)
c.9524G>T (p.Gly3175Val)
c.8882G>T (p.Gly2961Val)
c.6392G>T (p.Gly2131Val)
 gnomAD v4
10g.71815083C>ACA5547196CDH23c.9870C>A (p.Gly3290=)
c.3803C>A (n.3803C>A)
c.3362C>A (n.3362C>A)
c.9885C>A (p.Gly3295=)
c.3150C>A (p.Gly1050=)
n.3301C>A
c.3045C>A (p.Gly1015=)
c.561C>A (p.Gly187=)
c.456C>A (p.Gly152=)
c.10065C>A (p.Gly3355=)
c.9999C>A (p.Gly3333=)
c.10062C>A (p.Gly3354=)
c.10059C>A (p.Gly3353=)
c.10005C>A (p.Gly3335=)
c.9975C>A (p.Gly3325=)
c.9960C>A (p.Gly3320=)
c.9930C>A (p.Gly3310=)
c.9525C>A (p.Gly3175=)
c.8883C>A (p.Gly2961=)
c.6393C>A (p.Gly2131=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815083C=CA1918895714CDH23c.9870C= (p.Gly3290=)
c.3803C= (n.3803C=)
c.3362C= (n.3362C=)
c.9885C= (p.Gly3295=)
c.3150C= (p.Gly1050=)
n.3301C=
c.3045C= (p.Gly1015=)
c.561C= (p.Gly187=)
c.456C= (p.Gly152=)
c.10065C= (p.Gly3355=)
c.9999C= (p.Gly3333=)
c.10062C= (p.Gly3354=)
c.10059C= (p.Gly3353=)
c.10005C= (p.Gly3335=)
c.9975C= (p.Gly3325=)
c.9960C= (p.Gly3320=)
c.9930C= (p.Gly3310=)
c.9525C= (p.Gly3175=)
c.8883C= (p.Gly2961=)
c.6393C= (p.Gly2131=)
10g.71815083C>GCA470283251CDH23c.9870C>G (p.Gly3290=)
c.3803C>G (n.3803C>G)
c.3362C>G (n.3362C>G)
c.9885C>G (p.Gly3295=)
c.3150C>G (p.Gly1050=)
n.3301C>G
c.3045C>G (p.Gly1015=)
c.561C>G (p.Gly187=)
c.456C>G (p.Gly152=)
c.10065C>G (p.Gly3355=)
c.9999C>G (p.Gly3333=)
c.10062C>G (p.Gly3354=)
c.10059C>G (p.Gly3353=)
c.10005C>G (p.Gly3335=)
c.9975C>G (p.Gly3325=)
c.9960C>G (p.Gly3320=)
c.9930C>G (p.Gly3310=)
c.9525C>G (p.Gly3175=)
c.8883C>G (p.Gly2961=)
c.6393C>G (p.Gly2131=)
10g.71815083C>TCA470283252CDH23c.9870C>T (p.Gly3290=)
c.3803C>T (n.3803C>T)
c.3362C>T (n.3362C>T)
c.9885C>T (p.Gly3295=)
c.3150C>T (p.Gly1050=)
n.3301C>T
c.3045C>T (p.Gly1015=)
c.561C>T (p.Gly187=)
c.456C>T (p.Gly152=)
c.10065C>T (p.Gly3355=)
c.9999C>T (p.Gly3333=)
c.10062C>T (p.Gly3354=)
c.10059C>T (p.Gly3353=)
c.10005C>T (p.Gly3335=)
c.9975C>T (p.Gly3325=)
c.9960C>T (p.Gly3320=)
c.9930C>T (p.Gly3310=)
c.9525C>T (p.Gly3175=)
c.8883C>T (p.Gly2961=)
c.6393C>T (p.Gly2131=)
 gnomAD v4
10g.71815084A>CCA377138318CDH23c.9871A>C (p.Thr3291Pro)
c.3804A>C (n.3804A>C)
c.3363A>C (n.3363A>C)
c.9886A>C (p.Thr3296Pro)
c.3151A>C (p.Thr1051Pro)
n.3302A>C
c.3046A>C (p.Thr1016Pro)
c.562A>C (p.Thr188Pro)
c.457A>C (p.Thr153Pro)
c.10066A>C (p.Thr3356Pro)
c.10000A>C (p.Thr3334Pro)
c.10063A>C (p.Thr3355Pro)
c.10060A>C (p.Thr3354Pro)
c.10006A>C (p.Thr3336Pro)
c.9976A>C (p.Thr3326Pro)
c.9961A>C (p.Thr3321Pro)
c.9931A>C (p.Thr3311Pro)
c.9526A>C (p.Thr3176Pro)
c.8884A>C (p.Thr2962Pro)
c.6394A>C (p.Thr2132Pro)
10g.71815084A>GCA377138319CDH23c.9871A>G (p.Thr3291Ala)
c.3804A>G (n.3804A>G)
c.3363A>G (n.3363A>G)
c.9886A>G (p.Thr3296Ala)
c.3151A>G (p.Thr1051Ala)
n.3302A>G
c.3046A>G (p.Thr1016Ala)
c.562A>G (p.Thr188Ala)
c.457A>G (p.Thr153Ala)
c.10066A>G (p.Thr3356Ala)
c.10000A>G (p.Thr3334Ala)
c.10063A>G (p.Thr3355Ala)
c.10060A>G (p.Thr3354Ala)
c.10006A>G (p.Thr3336Ala)
c.9976A>G (p.Thr3326Ala)
c.9961A>G (p.Thr3321Ala)
c.9931A>G (p.Thr3311Ala)
c.9526A>G (p.Thr3176Ala)
c.8884A>G (p.Thr2962Ala)
c.6394A>G (p.Thr2132Ala)
10g.71815084A>TCA377138317CDH23c.9871A>T (p.Thr3291Ser)
c.3804A>T (n.3804A>T)
c.3363A>T (n.3363A>T)
c.9886A>T (p.Thr3296Ser)
c.3151A>T (p.Thr1051Ser)
n.3302A>T
c.3046A>T (p.Thr1016Ser)
c.562A>T (p.Thr188Ser)
c.457A>T (p.Thr153Ser)
c.10066A>T (p.Thr3356Ser)
c.10000A>T (p.Thr3334Ser)
c.10063A>T (p.Thr3355Ser)
c.10060A>T (p.Thr3354Ser)
c.10006A>T (p.Thr3336Ser)
c.9976A>T (p.Thr3326Ser)
c.9961A>T (p.Thr3321Ser)
c.9931A>T (p.Thr3311Ser)
c.9526A>T (p.Thr3176Ser)
c.8884A>T (p.Thr2962Ser)
c.6394A>T (p.Thr2132Ser)
10g.71815085C>ACA377138320CDH23c.9872C>A (p.Thr3291Lys)
c.3805C>A (n.3805C>A)
c.3364C>A (n.3364C>A)
c.9887C>A (p.Thr3296Lys)
c.3152C>A (p.Thr1051Lys)
n.3303C>A
c.3047C>A (p.Thr1016Lys)
c.563C>A (p.Thr188Lys)
c.458C>A (p.Thr153Lys)
c.10067C>A (p.Thr3356Lys)
c.10001C>A (p.Thr3334Lys)
c.10064C>A (p.Thr3355Lys)
c.10061C>A (p.Thr3354Lys)
c.10007C>A (p.Thr3336Lys)
c.9977C>A (p.Thr3326Lys)
c.9962C>A (p.Thr3321Lys)
c.9932C>A (p.Thr3311Lys)
c.9527C>A (p.Thr3176Lys)
c.8885C>A (p.Thr2962Lys)
c.6395C>A (p.Thr2132Lys)
 gnomAD v4
10g.71815085C=CA1918895720CDH23c.9872C= (p.Thr3291=)
c.3805C= (n.3805C=)
c.3364C= (n.3364C=)
c.9887C= (p.Thr3296=)
c.3152C= (p.Thr1051=)
n.3303C=
c.3047C= (p.Thr1016=)
c.563C= (p.Thr188=)
c.458C= (p.Thr153=)
c.10067C= (p.Thr3356=)
c.10001C= (p.Thr3334=)
c.10064C= (p.Thr3355=)
c.10061C= (p.Thr3354=)
c.10007C= (p.Thr3336=)
c.9977C= (p.Thr3326=)
c.9962C= (p.Thr3321=)
c.9932C= (p.Thr3311=)
c.9527C= (p.Thr3176=)
c.8885C= (p.Thr2962=)
c.6395C= (p.Thr2132=)
10g.71815085C>GCA377138321CDH23c.9872C>G (p.Thr3291Arg)
c.3805C>G (n.3805C>G)
c.3364C>G (n.3364C>G)
c.9887C>G (p.Thr3296Arg)
c.3152C>G (p.Thr1051Arg)
n.3303C>G
c.3047C>G (p.Thr1016Arg)
c.563C>G (p.Thr188Arg)
c.458C>G (p.Thr153Arg)
c.10067C>G (p.Thr3356Arg)
c.10001C>G (p.Thr3334Arg)
c.10064C>G (p.Thr3355Arg)
c.10061C>G (p.Thr3354Arg)
c.10007C>G (p.Thr3336Arg)
c.9977C>G (p.Thr3326Arg)
c.9962C>G (p.Thr3321Arg)
c.9932C>G (p.Thr3311Arg)
c.9527C>G (p.Thr3176Arg)
c.8885C>G (p.Thr2962Arg)
c.6395C>G (p.Thr2132Arg)
10g.71815085C>TCA5547197CDH23c.9872C>T (p.Thr3291Met)
c.3805C>T (n.3805C>T)
c.3364C>T (n.3364C>T)
c.9887C>T (p.Thr3296Met)
c.3152C>T (p.Thr1051Met)
n.3303C>T
c.3047C>T (p.Thr1016Met)
c.563C>T (p.Thr188Met)
c.458C>T (p.Thr153Met)
c.10067C>T (p.Thr3356Met)
c.10001C>T (p.Thr3334Met)
c.10064C>T (p.Thr3355Met)
c.10061C>T (p.Thr3354Met)
c.10007C>T (p.Thr3336Met)
c.9977C>T (p.Thr3326Met)
c.9962C>T (p.Thr3321Met)
c.9932C>T (p.Thr3311Met)
c.9527C>T (p.Thr3176Met)
c.8885C>T (p.Thr2962Met)
c.6395C>T (p.Thr2132Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815086G>ACA137649CDH23c.9873G>A (p.Thr3291=)
c.3806G>A (n.3806G>A)
c.3365G>A (n.3365G>A)
c.9888G>A (p.Thr3296=)
c.3153G>A (p.Thr1051=)
n.3304G>A
c.3048G>A (p.Thr1016=)
c.564G>A (p.Thr188=)
c.459G>A (p.Thr153=)
c.10068G>A (p.Thr3356=)
c.10002G>A (p.Thr3334=)
c.10065G>A (p.Thr3355=)
c.10062G>A (p.Thr3354=)
c.10008G>A (p.Thr3336=)
c.9978G>A (p.Thr3326=)
c.9963G>A (p.Thr3321=)
c.9933G>A (p.Thr3311=)
c.9528G>A (p.Thr3176=)
c.8886G>A (p.Thr2962=)
c.6396G>A (p.Thr2132=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815086G>CCA470283256CDH23c.9873G>C (p.Thr3291=)
c.3806G>C (n.3806G>C)
c.3365G>C (n.3365G>C)
c.9888G>C (p.Thr3296=)
c.3153G>C (p.Thr1051=)
n.3304G>C
c.3048G>C (p.Thr1016=)
c.564G>C (p.Thr188=)
c.459G>C (p.Thr153=)
c.10068G>C (p.Thr3356=)
c.10002G>C (p.Thr3334=)
c.10065G>C (p.Thr3355=)
c.10062G>C (p.Thr3354=)
c.10008G>C (p.Thr3336=)
c.9978G>C (p.Thr3326=)
c.9963G>C (p.Thr3321=)
c.9933G>C (p.Thr3311=)
c.9528G>C (p.Thr3176=)
c.8886G>C (p.Thr2962=)
c.6396G>C (p.Thr2132=)
10g.71815086G=CA1630848331CDH23c.9873G= (p.Thr3291=)
c.3806G= (n.3806G=)
c.3365G= (n.3365G=)
c.9888G= (p.Thr3296=)
c.3153G= (p.Thr1051=)
n.3304G=
c.3048G= (p.Thr1016=)
c.564G= (p.Thr188=)
c.459G= (p.Thr153=)
c.10068G= (p.Thr3356=)
c.10002G= (p.Thr3334=)
c.10065G= (p.Thr3355=)
c.10062G= (p.Thr3354=)
c.10008G= (p.Thr3336=)
c.9978G= (p.Thr3326=)
c.9963G= (p.Thr3321=)
c.9933G= (p.Thr3311=)
c.9528G= (p.Thr3176=)
c.8886G= (p.Thr2962=)
c.6396G= (p.Thr2132=)
10g.71815086G>TCA470283257CDH23c.9873G>T (p.Thr3291=)
c.3806G>T (n.3806G>T)
c.3365G>T (n.3365G>T)
c.9888G>T (p.Thr3296=)
c.3153G>T (p.Thr1051=)
n.3304G>T
c.3048G>T (p.Thr1016=)
c.564G>T (p.Thr188=)
c.459G>T (p.Thr153=)
c.10068G>T (p.Thr3356=)
c.10002G>T (p.Thr3334=)
c.10065G>T (p.Thr3355=)
c.10062G>T (p.Thr3354=)
c.10008G>T (p.Thr3336=)
c.9978G>T (p.Thr3326=)
c.9963G>T (p.Thr3321=)
c.9933G>T (p.Thr3311=)
c.9528G>T (p.Thr3176=)
c.8886G>T (p.Thr2962=)
c.6396G>T (p.Thr2132=)
10g.71815087C>ACA377138325CDH23c.9874C>A (p.Leu3292Met)
c.3807C>A (n.3807C>A)
c.3366C>A (n.3366C>A)
c.9889C>A (p.Leu3297Met)
c.3154C>A (p.Leu1052Met)
n.3305C>A
c.3049C>A (p.Leu1017Met)
c.565C>A (p.Leu189Met)
c.460C>A (p.Leu154Met)
c.10069C>A (p.Leu3357Met)
c.10003C>A (p.Leu3335Met)
c.10066C>A (p.Leu3356Met)
c.10063C>A (p.Leu3355Met)
c.10009C>A (p.Leu3337Met)
c.9979C>A (p.Leu3327Met)
c.9964C>A (p.Leu3322Met)
c.9934C>A (p.Leu3312Met)
c.9529C>A (p.Leu3177Met)
c.8887C>A (p.Leu2963Met)
c.6397C>A (p.Leu2133Met)
 gnomAD v4
10g.71815087C>GCA377138327CDH23c.9874C>G (p.Leu3292Val)
c.3807C>G (n.3807C>G)
c.3366C>G (n.3366C>G)
c.9889C>G (p.Leu3297Val)
c.3154C>G (p.Leu1052Val)
n.3305C>G
c.3049C>G (p.Leu1017Val)
c.565C>G (p.Leu189Val)
c.460C>G (p.Leu154Val)
c.10069C>G (p.Leu3357Val)
c.10003C>G (p.Leu3335Val)
c.10066C>G (p.Leu3356Val)
c.10063C>G (p.Leu3355Val)
c.10009C>G (p.Leu3337Val)
c.9979C>G (p.Leu3327Val)
c.9964C>G (p.Leu3322Val)
c.9934C>G (p.Leu3312Val)
c.9529C>G (p.Leu3177Val)
c.8887C>G (p.Leu2963Val)
c.6397C>G (p.Leu2133Val)
10g.71815087C>TCA470283258CDH23c.9874C>T (p.Leu3292=)
c.3807C>T (n.3807C>T)
c.3366C>T (n.3366C>T)
c.9889C>T (p.Leu3297=)
c.3154C>T (p.Leu1052=)
n.3305C>T
c.3049C>T (p.Leu1017=)
c.565C>T (p.Leu189=)
c.460C>T (p.Leu154=)
c.10069C>T (p.Leu3357=)
c.10003C>T (p.Leu3335=)
c.10066C>T (p.Leu3356=)
c.10063C>T (p.Leu3355=)
c.10009C>T (p.Leu3337=)
c.9979C>T (p.Leu3327=)
c.9964C>T (p.Leu3322=)
c.9934C>T (p.Leu3312=)
c.9529C>T (p.Leu3177=)
c.8887C>T (p.Leu2963=)
c.6397C>T (p.Leu2133=)
 dbSNP
10g.71815088T>ACA377138328CDH23c.9875T>A (p.Leu3292Gln)
c.3808T>A (n.3808T>A)
c.3367T>A (n.3367T>A)
c.9890T>A (p.Leu3297Gln)
c.3155T>A (p.Leu1052Gln)
n.3306T>A
c.3050T>A (p.Leu1017Gln)
c.566T>A (p.Leu189Gln)
c.461T>A (p.Leu154Gln)
c.10070T>A (p.Leu3357Gln)
c.10004T>A (p.Leu3335Gln)
c.10067T>A (p.Leu3356Gln)
c.10064T>A (p.Leu3355Gln)
c.10010T>A (p.Leu3337Gln)
c.9980T>A (p.Leu3327Gln)
c.9965T>A (p.Leu3322Gln)
c.9935T>A (p.Leu3312Gln)
c.9530T>A (p.Leu3177Gln)
c.8888T>A (p.Leu2963Gln)
c.6398T>A (p.Leu2133Gln)
10g.71815088T>CCA377138331CDH23c.9875T>C (p.Leu3292Pro)
c.3808T>C (n.3808T>C)
c.3367T>C (n.3367T>C)
c.9890T>C (p.Leu3297Pro)
c.3155T>C (p.Leu1052Pro)
n.3306T>C
c.3050T>C (p.Leu1017Pro)
c.566T>C (p.Leu189Pro)
c.461T>C (p.Leu154Pro)
c.10070T>C (p.Leu3357Pro)
c.10004T>C (p.Leu3335Pro)
c.10067T>C (p.Leu3356Pro)
c.10064T>C (p.Leu3355Pro)
c.10010T>C (p.Leu3337Pro)
c.9980T>C (p.Leu3327Pro)
c.9965T>C (p.Leu3322Pro)
c.9935T>C (p.Leu3312Pro)
c.9530T>C (p.Leu3177Pro)
c.8888T>C (p.Leu2963Pro)
c.6398T>C (p.Leu2133Pro)
10g.71815088T>GCA377138330CDH23c.9875T>G (p.Leu3292Arg)
c.3808T>G (n.3808T>G)
c.3367T>G (n.3367T>G)
c.9890T>G (p.Leu3297Arg)
c.3155T>G (p.Leu1052Arg)
n.3306T>G
c.3050T>G (p.Leu1017Arg)
c.566T>G (p.Leu189Arg)
c.461T>G (p.Leu154Arg)
c.10070T>G (p.Leu3357Arg)
c.10004T>G (p.Leu3335Arg)
c.10067T>G (p.Leu3356Arg)
c.10064T>G (p.Leu3355Arg)
c.10010T>G (p.Leu3337Arg)
c.9980T>G (p.Leu3327Arg)
c.9965T>G (p.Leu3322Arg)
c.9935T>G (p.Leu3312Arg)
c.9530T>G (p.Leu3177Arg)
c.8888T>G (p.Leu2963Arg)
c.6398T>G (p.Leu2133Arg)
10g.71815088dupCA2609588495CDH23c.9875dup (p.Leu3293AlafsTer?)
c.3808dup (n.3808dup)
c.3367dup (n.3367dup)
c.9890dup (p.Leu3298AlafsTer?)
c.3155dup (p.Leu1053AlafsTer?)
n.3306dup
c.3050dup (p.Leu1018AlafsTer?)
c.566dup (p.Leu190AlafsTer?)
c.461dup (p.Leu155AlafsTer?)
c.10070dup (p.Leu3358AlafsTer?)
c.10004dup (p.Leu3336AlafsTer?)
c.10067dup (p.Leu3357AlafsTer?)
c.10064dup (p.Leu3356AlafsTer?)
c.10010dup (p.Leu3338AlafsTer?)
c.9980dup (p.Leu3328AlafsTer?)
c.9965dup (p.Leu3323AlafsTer?)
c.9935dup (p.Leu3313AlafsTer?)
c.9530dup (p.Leu3178AlafsTer?)
c.8888dup (p.Leu2964AlafsTer?)
c.6398dup (p.Leu2134AlafsTer?)
 gnomAD v4
10g.71815089G>ACA470283261CDH23c.9876G>A (p.Leu3292=)
c.3809G>A (n.3809G>A)
c.3368G>A (n.3368G>A)
c.9891G>A (p.Leu3297=)
c.3156G>A (p.Leu1052=)
n.3307G>A
c.3051G>A (p.Leu1017=)
c.567G>A (p.Leu189=)
c.462G>A (p.Leu154=)
c.10071G>A (p.Leu3357=)
c.10005G>A (p.Leu3335=)
c.10068G>A (p.Leu3356=)
c.10065G>A (p.Leu3355=)
c.10011G>A (p.Leu3337=)
c.9981G>A (p.Leu3327=)
c.9966G>A (p.Leu3322=)
c.9936G>A (p.Leu3312=)
c.9531G>A (p.Leu3177=)
c.8889G>A (p.Leu2963=)
c.6399G>A (p.Leu2133=)
 dbSNP gnomAD v2 gnomAD v4
10g.71815089G>CCA470283260CDH23c.9876G>C (p.Leu3292=)
c.3809G>C (n.3809G>C)
c.3368G>C (n.3368G>C)
c.9891G>C (p.Leu3297=)
c.3156G>C (p.Leu1052=)
n.3307G>C
c.3051G>C (p.Leu1017=)
c.567G>C (p.Leu189=)
c.462G>C (p.Leu154=)
c.10071G>C (p.Leu3357=)
c.10005G>C (p.Leu3335=)
c.10068G>C (p.Leu3356=)
c.10065G>C (p.Leu3355=)
c.10011G>C (p.Leu3337=)
c.9981G>C (p.Leu3327=)
c.9966G>C (p.Leu3322=)
c.9936G>C (p.Leu3312=)
c.9531G>C (p.Leu3177=)
c.8889G>C (p.Leu2963=)
c.6399G>C (p.Leu2133=)
 ClinVar dbSNP gnomAD v4
10g.71815089G=CA1918895731CDH23c.9876G= (p.Leu3292=)
c.3809G= (n.3809G=)
c.3368G= (n.3368G=)
c.9891G= (p.Leu3297=)
c.3156G= (p.Leu1052=)
n.3307G=
c.3051G= (p.Leu1017=)
c.567G= (p.Leu189=)
c.462G= (p.Leu154=)
c.10071G= (p.Leu3357=)
c.10005G= (p.Leu3335=)
c.10068G= (p.Leu3356=)
c.10065G= (p.Leu3355=)
c.10011G= (p.Leu3337=)
c.9981G= (p.Leu3327=)
c.9966G= (p.Leu3322=)
c.9936G= (p.Leu3312=)
c.9531G= (p.Leu3177=)
c.8889G= (p.Leu2963=)
c.6399G= (p.Leu2133=)
10g.71815089G>TCA470283259CDH23c.9876G>T (p.Leu3292=)
c.3809G>T (n.3809G>T)
c.3368G>T (n.3368G>T)
c.9891G>T (p.Leu3297=)
c.3156G>T (p.Leu1052=)
n.3307G>T
c.3051G>T (p.Leu1017=)
c.567G>T (p.Leu189=)
c.462G>T (p.Leu154=)
c.10071G>T (p.Leu3357=)
c.10005G>T (p.Leu3335=)
c.10068G>T (p.Leu3356=)
c.10065G>T (p.Leu3355=)
c.10011G>T (p.Leu3337=)
c.9981G>T (p.Leu3327=)
c.9966G>T (p.Leu3322=)
c.9936G>T (p.Leu3312=)
c.9531G>T (p.Leu3177=)
c.8889G>T (p.Leu2963=)
c.6399G>T (p.Leu2133=)
10g.71815090C>ACA377138333CDH23c.9877C>A (p.Leu3293Met)
c.3810C>A (n.3810C>A)
c.3369C>A (n.3369C>A)
c.9892C>A (p.Leu3298Met)
c.3157C>A (p.Leu1053Met)
n.3308C>A
c.3052C>A (p.Leu1018Met)
c.568C>A (p.Leu190Met)
c.463C>A (p.Leu155Met)
c.10072C>A (p.Leu3358Met)
c.10006C>A (p.Leu3336Met)
c.10069C>A (p.Leu3357Met)
c.10066C>A (p.Leu3356Met)
c.10012C>A (p.Leu3338Met)
c.9982C>A (p.Leu3328Met)
c.9967C>A (p.Leu3323Met)
c.9937C>A (p.Leu3313Met)
c.9532C>A (p.Leu3178Met)
c.8890C>A (p.Leu2964Met)
c.6400C>A (p.Leu2134Met)
 gnomAD v4
10g.71815090C>GCA377138334CDH23c.9877C>G (p.Leu3293Val)
c.3810C>G (n.3810C>G)
c.3369C>G (n.3369C>G)
c.9892C>G (p.Leu3298Val)
c.3157C>G (p.Leu1053Val)
n.3308C>G
c.3052C>G (p.Leu1018Val)
c.568C>G (p.Leu190Val)
c.463C>G (p.Leu155Val)
c.10072C>G (p.Leu3358Val)
c.10006C>G (p.Leu3336Val)
c.10069C>G (p.Leu3357Val)
c.10066C>G (p.Leu3356Val)
c.10012C>G (p.Leu3338Val)
c.9982C>G (p.Leu3328Val)
c.9967C>G (p.Leu3323Val)
c.9937C>G (p.Leu3313Val)
c.9532C>G (p.Leu3178Val)
c.8890C>G (p.Leu2964Val)
c.6400C>G (p.Leu2134Val)
10g.71815090C>TCA470283262CDH23c.9877C>T (p.Leu3293=)
c.3810C>T (n.3810C>T)
c.3369C>T (n.3369C>T)
c.9892C>T (p.Leu3298=)
c.3157C>T (p.Leu1053=)
n.3308C>T
c.3052C>T (p.Leu1018=)
c.568C>T (p.Leu190=)
c.463C>T (p.Leu155=)
c.10072C>T (p.Leu3358=)
c.10006C>T (p.Leu3336=)
c.10069C>T (p.Leu3357=)
c.10066C>T (p.Leu3356=)
c.10012C>T (p.Leu3338=)
c.9982C>T (p.Leu3328=)
c.9967C>T (p.Leu3323=)
c.9937C>T (p.Leu3313=)
c.9532C>T (p.Leu3178=)
c.8890C>T (p.Leu2964=)
c.6400C>T (p.Leu2134=)
 dbSNP
10g.71815091T>ACA377138336CDH23c.9878T>A (p.Leu3293Gln)
c.3811T>A (n.3811T>A)
c.3370T>A (n.3370T>A)
c.9893T>A (p.Leu3298Gln)
c.3158T>A (p.Leu1053Gln)
n.3309T>A
c.3053T>A (p.Leu1018Gln)
c.569T>A (p.Leu190Gln)
c.464T>A (p.Leu155Gln)
c.10073T>A (p.Leu3358Gln)
c.10007T>A (p.Leu3336Gln)
c.10070T>A (p.Leu3357Gln)
c.10067T>A (p.Leu3356Gln)
c.10013T>A (p.Leu3338Gln)
c.9983T>A (p.Leu3328Gln)
c.9968T>A (p.Leu3323Gln)
c.9938T>A (p.Leu3313Gln)
c.9533T>A (p.Leu3178Gln)
c.8891T>A (p.Leu2964Gln)
c.6401T>A (p.Leu2134Gln)
10g.71815091T>CCA377138337CDH23c.9878T>C (p.Leu3293Pro)
c.3811T>C (n.3811T>C)
c.3370T>C (n.3370T>C)
c.9893T>C (p.Leu3298Pro)
c.3158T>C (p.Leu1053Pro)
n.3309T>C
c.3053T>C (p.Leu1018Pro)
c.569T>C (p.Leu190Pro)
c.464T>C (p.Leu155Pro)
c.10073T>C (p.Leu3358Pro)
c.10007T>C (p.Leu3336Pro)
c.10070T>C (p.Leu3357Pro)
c.10067T>C (p.Leu3356Pro)
c.10013T>C (p.Leu3338Pro)
c.9983T>C (p.Leu3328Pro)
c.9968T>C (p.Leu3323Pro)
c.9938T>C (p.Leu3313Pro)
c.9533T>C (p.Leu3178Pro)
c.8891T>C (p.Leu2964Pro)
c.6401T>C (p.Leu2134Pro)
10g.71815091T>GCA377138338CDH23c.9878T>G (p.Leu3293Arg)
c.3811T>G (n.3811T>G)
c.3370T>G (n.3370T>G)
c.9893T>G (p.Leu3298Arg)
c.3158T>G (p.Leu1053Arg)
n.3309T>G
c.3053T>G (p.Leu1018Arg)
c.569T>G (p.Leu190Arg)
c.464T>G (p.Leu155Arg)
c.10073T>G (p.Leu3358Arg)
c.10007T>G (p.Leu3336Arg)
c.10070T>G (p.Leu3357Arg)
c.10067T>G (p.Leu3356Arg)
c.10013T>G (p.Leu3338Arg)
c.9983T>G (p.Leu3328Arg)
c.9968T>G (p.Leu3323Arg)
c.9938T>G (p.Leu3313Arg)
c.9533T>G (p.Leu3178Arg)
c.8891T>G (p.Leu2964Arg)
c.6401T>G (p.Leu2134Arg)
10g.71815092G>ACA470283263CDH23c.9879G>A (p.Leu3293=)
c.3812G>A (n.3812G>A)
c.3371G>A (n.3371G>A)
c.9894G>A (p.Leu3298=)
c.3159G>A (p.Leu1053=)
n.3310G>A
c.3054G>A (p.Leu1018=)
c.570G>A (p.Leu190=)
c.465G>A (p.Leu155=)
c.10074G>A (p.Leu3358=)
c.10008G>A (p.Leu3336=)
c.10071G>A (p.Leu3357=)
c.10068G>A (p.Leu3356=)
c.10014G>A (p.Leu3338=)
c.9984G>A (p.Leu3328=)
c.9969G>A (p.Leu3323=)
c.9939G>A (p.Leu3313=)
c.9534G>A (p.Leu3178=)
c.8892G>A (p.Leu2964=)
c.6402G>A (p.Leu2134=)
 ClinVar dbSNP
10g.71815092G>CCA470283264CDH23c.9879G>C (p.Leu3293=)
c.3812G>C (n.3812G>C)
c.3371G>C (n.3371G>C)
c.9894G>C (p.Leu3298=)
c.3159G>C (p.Leu1053=)
n.3310G>C
c.3054G>C (p.Leu1018=)
c.570G>C (p.Leu190=)
c.465G>C (p.Leu155=)
c.10074G>C (p.Leu3358=)
c.10008G>C (p.Leu3336=)
c.10071G>C (p.Leu3357=)
c.10068G>C (p.Leu3356=)
c.10014G>C (p.Leu3338=)
c.9984G>C (p.Leu3328=)
c.9969G>C (p.Leu3323=)
c.9939G>C (p.Leu3313=)
c.9534G>C (p.Leu3178=)
c.8892G>C (p.Leu2964=)
c.6402G>C (p.Leu2134=)
10g.71815092G=CA1918895737CDH23c.9879G= (p.Leu3293=)
c.3812G= (n.3812G=)
c.3371G= (n.3371G=)
c.9894G= (p.Leu3298=)
c.3159G= (p.Leu1053=)
n.3310G=
c.3054G= (p.Leu1018=)
c.570G= (p.Leu190=)
c.465G= (p.Leu155=)
c.10074G= (p.Leu3358=)
c.10008G= (p.Leu3336=)
c.10071G= (p.Leu3357=)
c.10068G= (p.Leu3356=)
c.10014G= (p.Leu3338=)
c.9984G= (p.Leu3328=)
c.9969G= (p.Leu3323=)
c.9939G= (p.Leu3313=)
c.9534G= (p.Leu3178=)
c.8892G= (p.Leu2964=)
c.6402G= (p.Leu2134=)
10g.71815092G>TCA470283265CDH23c.9879G>T (p.Leu3293=)
c.3812G>T (n.3812G>T)
c.3371G>T (n.3371G>T)
c.9894G>T (p.Leu3298=)
c.3159G>T (p.Leu1053=)
n.3310G>T
c.3054G>T (p.Leu1018=)
c.570G>T (p.Leu190=)
c.465G>T (p.Leu155=)
c.10074G>T (p.Leu3358=)
c.10008G>T (p.Leu3336=)
c.10071G>T (p.Leu3357=)
c.10068G>T (p.Leu3356=)
c.10014G>T (p.Leu3338=)
c.9984G>T (p.Leu3328=)
c.9969G>T (p.Leu3323=)
c.9939G>T (p.Leu3313=)
c.9534G>T (p.Leu3178=)
c.8892G>T (p.Leu2964=)
c.6402G>T (p.Leu2134=)
10g.71815093G>ACA377138341CDH23c.9880G>A (p.Ala3294Thr)
c.3813G>A (n.3813G>A)
c.3372G>A (n.3372G>A)
c.9895G>A (p.Ala3299Thr)
c.3160G>A (p.Ala1054Thr)
n.3311G>A
c.3055G>A (p.Ala1019Thr)
c.571G>A (p.Ala191Thr)
c.466G>A (p.Ala156Thr)
c.10075G>A (p.Ala3359Thr)
c.10009G>A (p.Ala3337Thr)
c.10072G>A (p.Ala3358Thr)
c.10069G>A (p.Ala3357Thr)
c.10015G>A (p.Ala3339Thr)
c.9985G>A (p.Ala3329Thr)
c.9970G>A (p.Ala3324Thr)
c.9940G>A (p.Ala3314Thr)
c.9535G>A (p.Ala3179Thr)
c.8893G>A (p.Ala2965Thr)
c.6403G>A (p.Ala2135Thr)
 dbSNP
10g.71815093G>CCA377138340CDH23c.9880G>C (p.Ala3294Pro)
c.3813G>C (n.3813G>C)
c.3372G>C (n.3372G>C)
c.9895G>C (p.Ala3299Pro)
c.3160G>C (p.Ala1054Pro)
n.3311G>C
c.3055G>C (p.Ala1019Pro)
c.571G>C (p.Ala191Pro)
c.466G>C (p.Ala156Pro)
c.10075G>C (p.Ala3359Pro)
c.10009G>C (p.Ala3337Pro)
c.10072G>C (p.Ala3358Pro)
c.10069G>C (p.Ala3357Pro)
c.10015G>C (p.Ala3339Pro)
c.9985G>C (p.Ala3329Pro)
c.9970G>C (p.Ala3324Pro)
c.9940G>C (p.Ala3314Pro)
c.9535G>C (p.Ala3179Pro)
c.8893G>C (p.Ala2965Pro)
c.6403G>C (p.Ala2135Pro)
 dbSNP
10g.71815093G>TCA377138339CDH23c.9880G>T (p.Ala3294Ser)
c.3813G>T (n.3813G>T)
c.3372G>T (n.3372G>T)
c.9895G>T (p.Ala3299Ser)
c.3160G>T (p.Ala1054Ser)
n.3311G>T
c.3055G>T (p.Ala1019Ser)
c.571G>T (p.Ala191Ser)
c.466G>T (p.Ala156Ser)
c.10075G>T (p.Ala3359Ser)
c.10009G>T (p.Ala3337Ser)
c.10072G>T (p.Ala3358Ser)
c.10069G>T (p.Ala3357Ser)
c.10015G>T (p.Ala3339Ser)
c.9985G>T (p.Ala3329Ser)
c.9970G>T (p.Ala3324Ser)
c.9940G>T (p.Ala3314Ser)
c.9535G>T (p.Ala3179Ser)
c.8893G>T (p.Ala2965Ser)
c.6403G>T (p.Ala2135Ser)
10g.71815094C>ACA5547198CDH23c.9881C>A (p.Ala3294Asp)
c.3814C>A (n.3814C>A)
c.3373C>A (n.3373C>A)
c.9896C>A (p.Ala3299Asp)
c.3161C>A (p.Ala1054Asp)
n.3312C>A
c.3056C>A (p.Ala1019Asp)
c.572C>A (p.Ala191Asp)
c.467C>A (p.Ala156Asp)
c.10076C>A (p.Ala3359Asp)
c.10010C>A (p.Ala3337Asp)
c.10073C>A (p.Ala3358Asp)
c.10070C>A (p.Ala3357Asp)
c.10016C>A (p.Ala3339Asp)
c.9986C>A (p.Ala3329Asp)
c.9971C>A (p.Ala3324Asp)
c.9941C>A (p.Ala3314Asp)
c.9536C>A (p.Ala3179Asp)
c.8894C>A (p.Ala2965Asp)
c.6404C>A (p.Ala2135Asp)
 dbSNP ExAC gnomAD v2
10g.71815094C=CA1918895741CDH23c.9881C= (p.Ala3294=)
c.3814C= (n.3814C=)
c.3373C= (n.3373C=)
c.9896C= (p.Ala3299=)
c.3161C= (p.Ala1054=)
n.3312C=
c.3056C= (p.Ala1019=)
c.572C= (p.Ala191=)
c.467C= (p.Ala156=)
c.10076C= (p.Ala3359=)
c.10010C= (p.Ala3337=)
c.10073C= (p.Ala3358=)
c.10070C= (p.Ala3357=)
c.10016C= (p.Ala3339=)
c.9986C= (p.Ala3329=)
c.9971C= (p.Ala3324=)
c.9941C= (p.Ala3314=)
c.9536C= (p.Ala3179=)
c.8894C= (p.Ala2965=)
c.6404C= (p.Ala2135=)
10g.71815094C>GCA377138342CDH23c.9881C>G (p.Ala3294Gly)
c.3814C>G (n.3814C>G)
c.3373C>G (n.3373C>G)
c.9896C>G (p.Ala3299Gly)
c.3161C>G (p.Ala1054Gly)
n.3312C>G
c.3056C>G (p.Ala1019Gly)
c.572C>G (p.Ala191Gly)
c.467C>G (p.Ala156Gly)
c.10076C>G (p.Ala3359Gly)
c.10010C>G (p.Ala3337Gly)
c.10073C>G (p.Ala3358Gly)
c.10070C>G (p.Ala3357Gly)
c.10016C>G (p.Ala3339Gly)
c.9986C>G (p.Ala3329Gly)
c.9971C>G (p.Ala3324Gly)
c.9941C>G (p.Ala3314Gly)
c.9536C>G (p.Ala3179Gly)
c.8894C>G (p.Ala2965Gly)
c.6404C>G (p.Ala2135Gly)
10g.71815094C>TCA377138343CDH23c.9881C>T (p.Ala3294Val)
c.3814C>T (n.3814C>T)
c.3373C>T (n.3373C>T)
c.9896C>T (p.Ala3299Val)
c.3161C>T (p.Ala1054Val)
n.3312C>T
c.3056C>T (p.Ala1019Val)
c.572C>T (p.Ala191Val)
c.467C>T (p.Ala156Val)
c.10076C>T (p.Ala3359Val)
c.10010C>T (p.Ala3337Val)
c.10073C>T (p.Ala3358Val)
c.10070C>T (p.Ala3357Val)
c.10016C>T (p.Ala3339Val)
c.9986C>T (p.Ala3329Val)
c.9971C>T (p.Ala3324Val)
c.9941C>T (p.Ala3314Val)
c.9536C>T (p.Ala3179Val)
c.8894C>T (p.Ala2965Val)
c.6404C>T (p.Ala2135Val)
 dbSNP
10g.71815095C>ACA470283266CDH23c.9882C>A (p.Ala3294=)
c.3815C>A (n.3815C>A)
c.3374C>A (n.3374C>A)
c.9897C>A (p.Ala3299=)
c.3162C>A (p.Ala1054=)
n.3313C>A
c.3057C>A (p.Ala1019=)
c.573C>A (p.Ala191=)
c.468C>A (p.Ala156=)
c.10077C>A (p.Ala3359=)
c.10011C>A (p.Ala3337=)
c.10074C>A (p.Ala3358=)
c.10071C>A (p.Ala3357=)
c.10017C>A (p.Ala3339=)
c.9987C>A (p.Ala3329=)
c.9972C>A (p.Ala3324=)
c.9942C>A (p.Ala3314=)
c.9537C>A (p.Ala3179=)
c.8895C>A (p.Ala2965=)
c.6405C>A (p.Ala2135=)
10g.71815095C>GCA470283267CDH23c.9882C>G (p.Ala3294=)
c.3815C>G (n.3815C>G)
c.3374C>G (n.3374C>G)
c.9897C>G (p.Ala3299=)
c.3162C>G (p.Ala1054=)
n.3313C>G
c.3057C>G (p.Ala1019=)
c.573C>G (p.Ala191=)
c.468C>G (p.Ala156=)
c.10077C>G (p.Ala3359=)
c.10011C>G (p.Ala3337=)
c.10074C>G (p.Ala3358=)
c.10071C>G (p.Ala3357=)
c.10017C>G (p.Ala3339=)
c.9987C>G (p.Ala3329=)
c.9972C>G (p.Ala3324=)
c.9942C>G (p.Ala3314=)
c.9537C>G (p.Ala3179=)
c.8895C>G (p.Ala2965=)
c.6405C>G (p.Ala2135=)
10g.71815095C>TCA470283268CDH23c.9882C>T (p.Ala3294=)
c.3815C>T (n.3815C>T)
c.3374C>T (n.3374C>T)
c.9897C>T (p.Ala3299=)
c.3162C>T (p.Ala1054=)
n.3313C>T
c.3057C>T (p.Ala1019=)
c.573C>T (p.Ala191=)
c.468C>T (p.Ala156=)
c.10077C>T (p.Ala3359=)
c.10011C>T (p.Ala3337=)
c.10074C>T (p.Ala3358=)
c.10071C>T (p.Ala3357=)
c.10017C>T (p.Ala3339=)
c.9987C>T (p.Ala3329=)
c.9972C>T (p.Ala3324=)
c.9942C>T (p.Ala3314=)
c.9537C>T (p.Ala3179=)
c.8895C>T (p.Ala2965=)
c.6405C>T (p.Ala2135=)
 dbSNP
10g.71815096A=CA1918895752CDH23c.9883A= (p.Thr3295=)
c.3816A= (n.3816A=)
c.3375A= (n.3375A=)
c.9898A= (p.Thr3300=)
c.3163A= (p.Thr1055=)
n.3314A=
c.3058A= (p.Thr1020=)
c.574A= (p.Thr192=)
c.469A= (p.Thr157=)
c.10078A= (p.Thr3360=)
c.10012A= (p.Thr3338=)
c.10075A= (p.Thr3359=)
c.10072A= (p.Thr3358=)
c.10018A= (p.Thr3340=)
c.9988A= (p.Thr3330=)
c.9973A= (p.Thr3325=)
c.9943A= (p.Thr3315=)
c.9538A= (p.Thr3180=)
c.8896A= (p.Thr2966=)
c.6406A= (p.Thr2136=)
10g.71815096A>CCA5547200CDH23c.9883A>C (p.Thr3295Pro)
c.3816A>C (n.3816A>C)
c.3375A>C (n.3375A>C)
c.9898A>C (p.Thr3300Pro)
c.3163A>C (p.Thr1055Pro)
n.3314A>C
c.3058A>C (p.Thr1020Pro)
c.574A>C (p.Thr192Pro)
c.469A>C (p.Thr157Pro)
c.10078A>C (p.Thr3360Pro)
c.10012A>C (p.Thr3338Pro)
c.10075A>C (p.Thr3359Pro)
c.10072A>C (p.Thr3358Pro)
c.10018A>C (p.Thr3340Pro)
c.9988A>C (p.Thr3330Pro)
c.9973A>C (p.Thr3325Pro)
c.9943A>C (p.Thr3315Pro)
c.9538A>C (p.Thr3180Pro)
c.8896A>C (p.Thr2966Pro)
c.6406A>C (p.Thr2136Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815096A>GCA5547199CDH23c.9883A>G (p.Thr3295Ala)
c.3816A>G (n.3816A>G)
c.3375A>G (n.3375A>G)
c.9898A>G (p.Thr3300Ala)
c.3163A>G (p.Thr1055Ala)
n.3314A>G
c.3058A>G (p.Thr1020Ala)
c.574A>G (p.Thr192Ala)
c.469A>G (p.Thr157Ala)
c.10078A>G (p.Thr3360Ala)
c.10012A>G (p.Thr3338Ala)
c.10075A>G (p.Thr3359Ala)
c.10072A>G (p.Thr3358Ala)
c.10018A>G (p.Thr3340Ala)
c.9988A>G (p.Thr3330Ala)
c.9973A>G (p.Thr3325Ala)
c.9943A>G (p.Thr3315Ala)
c.9538A>G (p.Thr3180Ala)
c.8896A>G (p.Thr2966Ala)
c.6406A>G (p.Thr2136Ala)
 dbSNP ExAC gnomAD v2
10g.71815096A>TCA377138345CDH23c.9883A>T (p.Thr3295Ser)
c.3816A>T (n.3816A>T)
c.3375A>T (n.3375A>T)
c.9898A>T (p.Thr3300Ser)
c.3163A>T (p.Thr1055Ser)
n.3314A>T
c.3058A>T (p.Thr1020Ser)
c.574A>T (p.Thr192Ser)
c.469A>T (p.Thr157Ser)
c.10078A>T (p.Thr3360Ser)
c.10012A>T (p.Thr3338Ser)
c.10075A>T (p.Thr3359Ser)
c.10072A>T (p.Thr3358Ser)
c.10018A>T (p.Thr3340Ser)
c.9988A>T (p.Thr3330Ser)
c.9973A>T (p.Thr3325Ser)
c.9943A>T (p.Thr3315Ser)
c.9538A>T (p.Thr3180Ser)
c.8896A>T (p.Thr2966Ser)
c.6406A>T (p.Thr2136Ser)
10g.71815097C>ACA377138348CDH23c.9884C>A (p.Thr3295Asn)
c.3817C>A (n.3817C>A)
c.3376C>A (n.3376C>A)
c.9899C>A (p.Thr3300Asn)
c.3164C>A (p.Thr1055Asn)
n.3315C>A
c.3059C>A (p.Thr1020Asn)
c.575C>A (p.Thr192Asn)
c.470C>A (p.Thr157Asn)
c.10079C>A (p.Thr3360Asn)
c.10013C>A (p.Thr3338Asn)
c.10076C>A (p.Thr3359Asn)
c.10073C>A (p.Thr3358Asn)
c.10019C>A (p.Thr3340Asn)
c.9989C>A (p.Thr3330Asn)
c.9974C>A (p.Thr3325Asn)
c.9944C>A (p.Thr3315Asn)
c.9539C>A (p.Thr3180Asn)
c.8897C>A (p.Thr2966Asn)
c.6407C>A (p.Thr2136Asn)
10g.71815097C=CA1918895757CDH23c.9884C= (p.Thr3295=)
c.3817C= (n.3817C=)
c.3376C= (n.3376C=)
c.9899C= (p.Thr3300=)
c.3164C= (p.Thr1055=)
n.3315C=
c.3059C= (p.Thr1020=)
c.575C= (p.Thr192=)
c.470C= (p.Thr157=)
c.10079C= (p.Thr3360=)
c.10013C= (p.Thr3338=)
c.10076C= (p.Thr3359=)
c.10073C= (p.Thr3358=)
c.10019C= (p.Thr3340=)
c.9989C= (p.Thr3330=)
c.9974C= (p.Thr3325=)
c.9944C= (p.Thr3315=)
c.9539C= (p.Thr3180=)
c.8897C= (p.Thr2966=)
c.6407C= (p.Thr2136=)
10g.71815097C>GCA5547201CDH23c.9884C>G (p.Thr3295Ser)
c.3817C>G (n.3817C>G)
c.3376C>G (n.3376C>G)
c.9899C>G (p.Thr3300Ser)
c.3164C>G (p.Thr1055Ser)
n.3315C>G
c.3059C>G (p.Thr1020Ser)
c.575C>G (p.Thr192Ser)
c.470C>G (p.Thr157Ser)
c.10079C>G (p.Thr3360Ser)
c.10013C>G (p.Thr3338Ser)
c.10076C>G (p.Thr3359Ser)
c.10073C>G (p.Thr3358Ser)
c.10019C>G (p.Thr3340Ser)
c.9989C>G (p.Thr3330Ser)
c.9974C>G (p.Thr3325Ser)
c.9944C>G (p.Thr3315Ser)
c.9539C>G (p.Thr3180Ser)
c.8897C>G (p.Thr2966Ser)
c.6407C>G (p.Thr2136Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815097C>TCA377138350CDH23c.9884C>T (p.Thr3295Ile)
c.3817C>T (n.3817C>T)
c.3376C>T (n.3376C>T)
c.9899C>T (p.Thr3300Ile)
c.3164C>T (p.Thr1055Ile)
n.3315C>T
c.3059C>T (p.Thr1020Ile)
c.575C>T (p.Thr192Ile)
c.470C>T (p.Thr157Ile)
c.10079C>T (p.Thr3360Ile)
c.10013C>T (p.Thr3338Ile)
c.10076C>T (p.Thr3359Ile)
c.10073C>T (p.Thr3358Ile)
c.10019C>T (p.Thr3340Ile)
c.9989C>T (p.Thr3330Ile)
c.9974C>T (p.Thr3325Ile)
c.9944C>T (p.Thr3315Ile)
c.9539C>T (p.Thr3180Ile)
c.8897C>T (p.Thr2966Ile)
c.6407C>T (p.Thr2136Ile)
 dbSNP
10g.71815098_71815104dupCA2609588536CDH23c.9885_9891dup (p.Asn3298ArgfsTer?)
c.3818_3824dup (n.3818_3824dup)
c.3377_3383dup (n.3377_3383dup)
c.9900_9906dup (p.Asn3303ArgfsTer?)
c.3165_3171dup (p.Asn1058ArgfsTer?)
n.3316_3322dup
c.3060_3066dup (p.Asn1023ArgfsTer?)
c.576_582dup (p.Asn195ArgfsTer?)
c.471_477dup (p.Asn160ArgfsTer?)
c.10080_10086dup (p.Asn3363ArgfsTer?)
c.10014_10020dup (p.Asn3341ArgfsTer?)
c.10077_10083dup (p.Asn3362ArgfsTer?)
c.10074_10080dup (p.Asn3361ArgfsTer?)
c.10020_10026dup (p.Asn3343ArgfsTer?)
c.9990_9996dup (p.Asn3333ArgfsTer?)
c.9975_9981dup (p.Asn3328ArgfsTer?)
c.9945_9951dup (p.Asn3318ArgfsTer?)
c.9540_9546dup (p.Asn3183ArgfsTer?)
c.8898_8904dup (p.Asn2969ArgfsTer?)
c.6408_6414dup (p.Asn2139ArgfsTer?)
 gnomAD v4
10g.71815098C>ACA470283269CDH23c.9885C>A (p.Thr3295=)
c.3818C>A (n.3818C>A)
c.3377C>A (n.3377C>A)
c.9900C>A (p.Thr3300=)
c.3165C>A (p.Thr1055=)
n.3316C>A
c.3060C>A (p.Thr1020=)
c.576C>A (p.Thr192=)
c.471C>A (p.Thr157=)
c.10080C>A (p.Thr3360=)
c.10014C>A (p.Thr3338=)
c.10077C>A (p.Thr3359=)
c.10074C>A (p.Thr3358=)
c.10020C>A (p.Thr3340=)
c.9990C>A (p.Thr3330=)
c.9975C>A (p.Thr3325=)
c.9945C>A (p.Thr3315=)
c.9540C>A (p.Thr3180=)
c.8898C>A (p.Thr2966=)
c.6408C>A (p.Thr2136=)
 dbSNP
10g.71815098C=CA1918895760CDH23c.9885C= (p.Thr3295=)
c.3818C= (n.3818C=)
c.3377C= (n.3377C=)
c.9900C= (p.Thr3300=)
c.3165C= (p.Thr1055=)
n.3316C=
c.3060C= (p.Thr1020=)
c.576C= (p.Thr192=)
c.471C= (p.Thr157=)
c.10080C= (p.Thr3360=)
c.10014C= (p.Thr3338=)
c.10077C= (p.Thr3359=)
c.10074C= (p.Thr3358=)
c.10020C= (p.Thr3340=)
c.9990C= (p.Thr3330=)
c.9975C= (p.Thr3325=)
c.9945C= (p.Thr3315=)
c.9540C= (p.Thr3180=)
c.8898C= (p.Thr2966=)
c.6408C= (p.Thr2136=)
10g.71815098C>GCA470283270CDH23c.9885C>G (p.Thr3295=)
c.3818C>G (n.3818C>G)
c.3377C>G (n.3377C>G)
c.9900C>G (p.Thr3300=)
c.3165C>G (p.Thr1055=)
n.3316C>G
c.3060C>G (p.Thr1020=)
c.576C>G (p.Thr192=)
c.471C>G (p.Thr157=)
c.10080C>G (p.Thr3360=)
c.10014C>G (p.Thr3338=)
c.10077C>G (p.Thr3359=)
c.10074C>G (p.Thr3358=)
c.10020C>G (p.Thr3340=)
c.9990C>G (p.Thr3330=)
c.9975C>G (p.Thr3325=)
c.9945C>G (p.Thr3315=)
c.9540C>G (p.Thr3180=)
c.8898C>G (p.Thr2966=)
c.6408C>G (p.Thr2136=)
10g.71815098C>TCA470283271CDH23c.9885C>T (p.Thr3295=)
c.3818C>T (n.3818C>T)
c.3377C>T (n.3377C>T)
c.9900C>T (p.Thr3300=)
c.3165C>T (p.Thr1055=)
n.3316C>T
c.3060C>T (p.Thr1020=)
c.576C>T (p.Thr192=)
c.471C>T (p.Thr157=)
c.10080C>T (p.Thr3360=)
c.10014C>T (p.Thr3338=)
c.10077C>T (p.Thr3359=)
c.10074C>T (p.Thr3358=)
c.10020C>T (p.Thr3340=)
c.9990C>T (p.Thr3330=)
c.9975C>T (p.Thr3325=)
c.9945C>T (p.Thr3315=)
c.9540C>T (p.Thr3180=)
c.8898C>T (p.Thr2966=)
c.6408C>T (p.Thr2136=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71815099G>ACA5547202CDH23c.9886G>A (p.Asp3296Asn)
c.3819G>A (n.3819G>A)
c.3378G>A (n.3378G>A)
c.9901G>A (p.Asp3301Asn)
c.3166G>A (p.Asp1056Asn)
n.3317G>A
c.3061G>A (p.Asp1021Asn)
c.577G>A (p.Asp193Asn)
c.472G>A (p.Asp158Asn)
c.10081G>A (p.Asp3361Asn)
c.10015G>A (p.Asp3339Asn)
c.10078G>A (p.Asp3360Asn)
c.10075G>A (p.Asp3359Asn)
c.10021G>A (p.Asp3341Asn)
c.9991G>A (p.Asp3331Asn)
c.9976G>A (p.Asp3326Asn)
c.9946G>A (p.Asp3316Asn)
c.9541G>A (p.Asp3181Asn)
c.8899G>A (p.Asp2967Asn)
c.6409G>A (p.Asp2137Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815099G>CCA377138353CDH23c.9886G>C (p.Asp3296His)
c.3819G>C (n.3819G>C)
c.3378G>C (n.3378G>C)
c.9901G>C (p.Asp3301His)
c.3166G>C (p.Asp1056His)
n.3317G>C
c.3061G>C (p.Asp1021His)
c.577G>C (p.Asp193His)
c.472G>C (p.Asp158His)
c.10081G>C (p.Asp3361His)
c.10015G>C (p.Asp3339His)
c.10078G>C (p.Asp3360His)
c.10075G>C (p.Asp3359His)
c.10021G>C (p.Asp3341His)
c.9991G>C (p.Asp3331His)
c.9976G>C (p.Asp3326His)
c.9946G>C (p.Asp3316His)
c.9541G>C (p.Asp3181His)
c.8899G>C (p.Asp2967His)
c.6409G>C (p.Asp2137His)
10g.71815099G=CA1918895766CDH23c.9886G= (p.Asp3296=)
c.3819G= (n.3819G=)
c.3378G= (n.3378G=)
c.9901G= (p.Asp3301=)
c.3166G= (p.Asp1056=)
n.3317G=
c.3061G= (p.Asp1021=)
c.577G= (p.Asp193=)
c.472G= (p.Asp158=)
c.10081G= (p.Asp3361=)
c.10015G= (p.Asp3339=)
c.10078G= (p.Asp3360=)
c.10075G= (p.Asp3359=)
c.10021G= (p.Asp3341=)
c.9991G= (p.Asp3331=)
c.9976G= (p.Asp3326=)
c.9946G= (p.Asp3316=)
c.9541G= (p.Asp3181=)
c.8899G= (p.Asp2967=)
c.6409G= (p.Asp2137=)
10g.71815099G>TCA377138355CDH23c.9886G>T (p.Asp3296Tyr)
c.3819G>T (n.3819G>T)
c.3378G>T (n.3378G>T)
c.9901G>T (p.Asp3301Tyr)
c.3166G>T (p.Asp1056Tyr)
n.3317G>T
c.3061G>T (p.Asp1021Tyr)
c.577G>T (p.Asp193Tyr)
c.472G>T (p.Asp158Tyr)
c.10081G>T (p.Asp3361Tyr)
c.10015G>T (p.Asp3339Tyr)
c.10078G>T (p.Asp3360Tyr)
c.10075G>T (p.Asp3359Tyr)
c.10021G>T (p.Asp3341Tyr)
c.9991G>T (p.Asp3331Tyr)
c.9976G>T (p.Asp3326Tyr)
c.9946G>T (p.Asp3316Tyr)
c.9541G>T (p.Asp3181Tyr)
c.8899G>T (p.Asp2967Tyr)
c.6409G>T (p.Asp2137Tyr)
 gnomAD v4
10g.71815100A=CA1918895770CDH23c.9887A= (p.Asp3296=)
c.3820A= (n.3820A=)
c.3379A= (n.3379A=)
c.9902A= (p.Asp3301=)
c.3167A= (p.Asp1056=)
n.3318A=
c.3062A= (p.Asp1021=)
c.578A= (p.Asp193=)
c.473A= (p.Asp158=)
c.10082A= (p.Asp3361=)
c.10016A= (p.Asp3339=)
c.10079A= (p.Asp3360=)
c.10076A= (p.Asp3359=)
c.10022A= (p.Asp3341=)
c.9992A= (p.Asp3331=)
c.9977A= (p.Asp3326=)
c.9947A= (p.Asp3316=)
c.9542A= (p.Asp3181=)
c.8900A= (p.Asp2967=)
c.6410A= (p.Asp2137=)
10g.71815100A>CCA377138359CDH23c.9887A>C (p.Asp3296Ala)
c.3820A>C (n.3820A>C)
c.3379A>C (n.3379A>C)
c.9902A>C (p.Asp3301Ala)
c.3167A>C (p.Asp1056Ala)
n.3318A>C
c.3062A>C (p.Asp1021Ala)
c.578A>C (p.Asp193Ala)
c.473A>C (p.Asp158Ala)
c.10082A>C (p.Asp3361Ala)
c.10016A>C (p.Asp3339Ala)
c.10079A>C (p.Asp3360Ala)
c.10076A>C (p.Asp3359Ala)
c.10022A>C (p.Asp3341Ala)
c.9992A>C (p.Asp3331Ala)
c.9977A>C (p.Asp3326Ala)
c.9947A>C (p.Asp3316Ala)
c.9542A>C (p.Asp3181Ala)
c.8900A>C (p.Asp2967Ala)
c.6410A>C (p.Asp2137Ala)
10g.71815100A>GCA5547203CDH23c.9887A>G (p.Asp3296Gly)
c.3820A>G (n.3820A>G)
c.3379A>G (n.3379A>G)
c.9902A>G (p.Asp3301Gly)
c.3167A>G (p.Asp1056Gly)
n.3318A>G
c.3062A>G (p.Asp1021Gly)
c.578A>G (p.Asp193Gly)
c.473A>G (p.Asp158Gly)
c.10082A>G (p.Asp3361Gly)
c.10016A>G (p.Asp3339Gly)
c.10079A>G (p.Asp3360Gly)
c.10076A>G (p.Asp3359Gly)
c.10022A>G (p.Asp3341Gly)
c.9992A>G (p.Asp3331Gly)
c.9977A>G (p.Asp3326Gly)
c.9947A>G (p.Asp3316Gly)
c.9542A>G (p.Asp3181Gly)
c.8900A>G (p.Asp2967Gly)
c.6410A>G (p.Asp2137Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71815100A>TCA377138362CDH23c.9887A>T (p.Asp3296Val)
c.3820A>T (n.3820A>T)
c.3379A>T (n.3379A>T)
c.9902A>T (p.Asp3301Val)
c.3167A>T (p.Asp1056Val)
n.3318A>T
c.3062A>T (p.Asp1021Val)
c.578A>T (p.Asp193Val)
c.473A>T (p.Asp158Val)
c.10082A>T (p.Asp3361Val)
c.10016A>T (p.Asp3339Val)
c.10079A>T (p.Asp3360Val)
c.10076A>T (p.Asp3359Val)
c.10022A>T (p.Asp3341Val)
c.9992A>T (p.Asp3331Val)
c.9977A>T (p.Asp3326Val)
c.9947A>T (p.Asp3316Val)
c.9542A>T (p.Asp3181Val)
c.8900A>T (p.Asp2967Val)
c.6410A>T (p.Asp2137Val)
 dbSNP
10g.71815101C>ACA377138366CDH23c.9888C>A (p.Asp3296Glu)
c.3821C>A (n.3821C>A)
c.3380C>A (n.3380C>A)
c.9903C>A (p.Asp3301Glu)
c.3168C>A (p.Asp1056Glu)
n.3319C>A
c.3063C>A (p.Asp1021Glu)
c.579C>A (p.Asp193Glu)
c.474C>A (p.Asp158Glu)
c.10083C>A (p.Asp3361Glu)
c.10017C>A (p.Asp3339Glu)
c.10080C>A (p.Asp3360Glu)
c.10077C>A (p.Asp3359Glu)
c.10023C>A (p.Asp3341Glu)
c.9993C>A (p.Asp3331Glu)
c.9978C>A (p.Asp3326Glu)
c.9948C>A (p.Asp3316Glu)
c.9543C>A (p.Asp3181Glu)
c.8901C>A (p.Asp2967Glu)
c.6411C>A (p.Asp2137Glu)
 gnomAD v4
10g.71815101C=CA1918895773CDH23c.9888C= (p.Asp3296=)
c.3821C= (n.3821C=)
c.3380C= (n.3380C=)
c.9903C= (p.Asp3301=)
c.3168C= (p.Asp1056=)
n.3319C=
c.3063C= (p.Asp1021=)
c.579C= (p.Asp193=)
c.474C= (p.Asp158=)
c.10083C= (p.Asp3361=)
c.10017C= (p.Asp3339=)
c.10080C= (p.Asp3360=)
c.10077C= (p.Asp3359=)
c.10023C= (p.Asp3341=)
c.9993C= (p.Asp3331=)
c.9978C= (p.Asp3326=)
c.9948C= (p.Asp3316=)
c.9543C= (p.Asp3181=)
c.8901C= (p.Asp2967=)
c.6411C= (p.Asp2137=)
10g.71815101C>GCA377138364CDH23c.9888C>G (p.Asp3296Glu)
c.3821C>G (n.3821C>G)
c.3380C>G (n.3380C>G)
c.9903C>G (p.Asp3301Glu)
c.3168C>G (p.Asp1056Glu)
n.3319C>G
c.3063C>G (p.Asp1021Glu)
c.579C>G (p.Asp193Glu)
c.474C>G (p.Asp158Glu)
c.10083C>G (p.Asp3361Glu)
c.10017C>G (p.Asp3339Glu)
c.10080C>G (p.Asp3360Glu)
c.10077C>G (p.Asp3359Glu)
c.10023C>G (p.Asp3341Glu)
c.9993C>G (p.Asp3331Glu)
c.9978C>G (p.Asp3326Glu)
c.9948C>G (p.Asp3316Glu)
c.9543C>G (p.Asp3181Glu)
c.8901C>G (p.Asp2967Glu)
c.6411C>G (p.Asp2137Glu)
10g.71815101C>TCA470283273CDH23c.9888C>T (p.Asp3296=)
c.3821C>T (n.3821C>T)
c.3380C>T (n.3380C>T)
c.9903C>T (p.Asp3301=)
c.3168C>T (p.Asp1056=)
n.3319C>T
c.3063C>T (p.Asp1021=)
c.579C>T (p.Asp193=)
c.474C>T (p.Asp158=)
c.10083C>T (p.Asp3361=)
c.10017C>T (p.Asp3339=)
c.10080C>T (p.Asp3360=)
c.10077C>T (p.Asp3359=)
c.10023C>T (p.Asp3341=)
c.9993C>T (p.Asp3331=)
c.9978C>T (p.Asp3326=)
c.9948C>T (p.Asp3316=)
c.9543C>T (p.Asp3181=)
c.8901C>T (p.Asp2967=)
c.6411C>T (p.Asp2137=)
 dbSNP gnomAD v2 gnomAD v4
10g.71815102C>ACA377138368CDH23c.9889C>A (p.Leu3297Ile)
c.3822C>A (n.3822C>A)
c.3381C>A (n.3381C>A)
c.9904C>A (p.Leu3302Ile)
c.3169C>A (p.Leu1057Ile)
n.3320C>A
c.3064C>A (p.Leu1022Ile)
c.580C>A (p.Leu194Ile)
c.475C>A (p.Leu159Ile)
c.10084C>A (p.Leu3362Ile)
c.10018C>A (p.Leu3340Ile)
c.10081C>A (p.Leu3361Ile)
c.10078C>A (p.Leu3360Ile)
c.10024C>A (p.Leu3342Ile)
c.9994C>A (p.Leu3332Ile)
c.9979C>A (p.Leu3327Ile)
c.9949C>A (p.Leu3317Ile)
c.9544C>A (p.Leu3182Ile)
c.8902C>A (p.Leu2968Ile)
c.6412C>A (p.Leu2138Ile)
10g.71815102C>GCA377138369CDH23c.9889C>G (p.Leu3297Val)
c.3822C>G (n.3822C>G)
c.3381C>G (n.3381C>G)
c.9904C>G (p.Leu3302Val)
c.3169C>G (p.Leu1057Val)
n.3320C>G
c.3064C>G (p.Leu1022Val)
c.580C>G (p.Leu194Val)
c.475C>G (p.Leu159Val)
c.10084C>G (p.Leu3362Val)
c.10018C>G (p.Leu3340Val)
c.10081C>G (p.Leu3361Val)
c.10078C>G (p.Leu3360Val)
c.10024C>G (p.Leu3342Val)
c.9994C>G (p.Leu3332Val)
c.9979C>G (p.Leu3327Val)
c.9949C>G (p.Leu3317Val)
c.9544C>G (p.Leu3182Val)
c.8902C>G (p.Leu2968Val)
c.6412C>G (p.Leu2138Val)
10g.71815102C>TCA377138371CDH23c.9889C>T (p.Leu3297Phe)
c.3822C>T (n.3822C>T)
c.3381C>T (n.3381C>T)
c.9904C>T (p.Leu3302Phe)
c.3169C>T (p.Leu1057Phe)
n.3320C>T
c.3064C>T (p.Leu1022Phe)
c.580C>T (p.Leu194Phe)
c.475C>T (p.Leu159Phe)
c.10084C>T (p.Leu3362Phe)
c.10018C>T (p.Leu3340Phe)
c.10081C>T (p.Leu3361Phe)
c.10078C>T (p.Leu3360Phe)
c.10024C>T (p.Leu3342Phe)
c.9994C>T (p.Leu3332Phe)
c.9979C>T (p.Leu3327Phe)
c.9949C>T (p.Leu3317Phe)
c.9544C>T (p.Leu3182Phe)
c.8902C>T (p.Leu2968Phe)
c.6412C>T (p.Leu2138Phe)
 gnomAD v4
10g.71815103T>ACA377138374CDH23c.9890T>A (p.Leu3297His)
c.3823T>A (n.3823T>A)
c.3382T>A (n.3382T>A)
c.9905T>A (p.Leu3302His)
c.3170T>A (p.Leu1057His)
n.3321T>A
c.3065T>A (p.Leu1022His)
c.581T>A (p.Leu194His)
c.476T>A (p.Leu159His)
c.10085T>A (p.Leu3362His)
c.10019T>A (p.Leu3340His)
c.10082T>A (p.Leu3361His)
c.10079T>A (p.Leu3360His)
c.10025T>A (p.Leu3342His)
c.9995T>A (p.Leu3332His)
c.9980T>A (p.Leu3327His)
c.9950T>A (p.Leu3317His)
c.9545T>A (p.Leu3182His)
c.8903T>A (p.Leu2968His)
c.6413T>A (p.Leu2138His)
 dbSNP
10g.71815103T>CCA377138375CDH23c.9890T>C (p.Leu3297Pro)
c.3823T>C (n.3823T>C)
c.3382T>C (n.3382T>C)
c.9905T>C (p.Leu3302Pro)
c.3170T>C (p.Leu1057Pro)
n.3321T>C
c.3065T>C (p.Leu1022Pro)
c.581T>C (p.Leu194Pro)
c.476T>C (p.Leu159Pro)
c.10085T>C (p.Leu3362Pro)
c.10019T>C (p.Leu3340Pro)
c.10082T>C (p.Leu3361Pro)
c.10079T>C (p.Leu3360Pro)
c.10025T>C (p.Leu3342Pro)
c.9995T>C (p.Leu3332Pro)
c.9980T>C (p.Leu3327Pro)
c.9950T>C (p.Leu3317Pro)
c.9545T>C (p.Leu3182Pro)
c.8903T>C (p.Leu2968Pro)
c.6413T>C (p.Leu2138Pro)
10g.71815103T>GCA377138377CDH23c.9890T>G (p.Leu3297Arg)
c.3823T>G (n.3823T>G)
c.3382T>G (n.3382T>G)
c.9905T>G (p.Leu3302Arg)
c.3170T>G (p.Leu1057Arg)
n.3321T>G
c.3065T>G (p.Leu1022Arg)
c.581T>G (p.Leu194Arg)
c.476T>G (p.Leu159Arg)
c.10085T>G (p.Leu3362Arg)
c.10019T>G (p.Leu3340Arg)
c.10082T>G (p.Leu3361Arg)
c.10079T>G (p.Leu3360Arg)
c.10025T>G (p.Leu3342Arg)
c.9995T>G (p.Leu3332Arg)
c.9980T>G (p.Leu3327Arg)
c.9950T>G (p.Leu3317Arg)
c.9545T>G (p.Leu3182Arg)
c.8903T>G (p.Leu2968Arg)
c.6413T>G (p.Leu2138Arg)

Number of alleles fetched