Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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)
10g.71815104C>ACA470283276CDH23c.9891C>A (p.Leu3297=)
c.3824C>A (n.3824C>A)
c.3383C>A (n.3383C>A)
c.9906C>A (p.Leu3302=)
c.3171C>A (p.Leu1057=)
n.3322C>A
c.3066C>A (p.Leu1022=)
c.582C>A (p.Leu194=)
c.477C>A (p.Leu159=)
c.10086C>A (p.Leu3362=)
c.10020C>A (p.Leu3340=)
c.10083C>A (p.Leu3361=)
c.10080C>A (p.Leu3360=)
c.10026C>A (p.Leu3342=)
c.9996C>A (p.Leu3332=)
c.9981C>A (p.Leu3327=)
c.9951C>A (p.Leu3317=)
c.9546C>A (p.Leu3182=)
c.8904C>A (p.Leu2968=)
c.6414C>A (p.Leu2138=)
10g.71815104C>GCA470283277CDH23c.9891C>G (p.Leu3297=)
c.3824C>G (n.3824C>G)
c.3383C>G (n.3383C>G)
c.9906C>G (p.Leu3302=)
c.3171C>G (p.Leu1057=)
n.3322C>G
c.3066C>G (p.Leu1022=)
c.582C>G (p.Leu194=)
c.477C>G (p.Leu159=)
c.10086C>G (p.Leu3362=)
c.10020C>G (p.Leu3340=)
c.10083C>G (p.Leu3361=)
c.10080C>G (p.Leu3360=)
c.10026C>G (p.Leu3342=)
c.9996C>G (p.Leu3332=)
c.9981C>G (p.Leu3327=)
c.9951C>G (p.Leu3317=)
c.9546C>G (p.Leu3182=)
c.8904C>G (p.Leu2968=)
c.6414C>G (p.Leu2138=)
 ClinVar dbSNP gnomAD v4
10g.71815104C>TCA470283278CDH23c.9891C>T (p.Leu3297=)
c.3824C>T (n.3824C>T)
c.3383C>T (n.3383C>T)
c.9906C>T (p.Leu3302=)
c.3171C>T (p.Leu1057=)
n.3322C>T
c.3066C>T (p.Leu1022=)
c.582C>T (p.Leu194=)
c.477C>T (p.Leu159=)
c.10086C>T (p.Leu3362=)
c.10020C>T (p.Leu3340=)
c.10083C>T (p.Leu3361=)
c.10080C>T (p.Leu3360=)
c.10026C>T (p.Leu3342=)
c.9996C>T (p.Leu3332=)
c.9981C>T (p.Leu3327=)
c.9951C>T (p.Leu3317=)
c.9546C>T (p.Leu3182=)
c.8904C>T (p.Leu2968=)
c.6414C>T (p.Leu2138=)
 dbSNP COSMIC
10g.71815106_71815108delCA2609588597CDH23c.9893_9895del (p.Asn3298del)
c.3826_3828del (n.3826_3828del)
c.3385_3387del (n.3385_3387del)
c.9908_9910del (p.Asn3303del)
c.3173_3175del (p.Asn1058del)
n.3324_3326del
c.3068_3070del (p.Asn1023del)
c.584_586del (p.Asn195del)
c.479_481del (p.Asn160del)
c.10088_10090del (p.Asn3363del)
c.10022_10024del (p.Asn3341del)
c.10085_10087del (p.Asn3362del)
c.10082_10084del (p.Asn3361del)
c.10028_10030del (p.Asn3343del)
c.9998_10000del (p.Asn3333del)
c.9983_9985del (p.Asn3328del)
c.9953_9955del (p.Asn3318del)
c.9548_9550del (p.Asn3183del)
c.8906_8908del (p.Asn2969del)
c.6416_6418del (p.Asn2139del)
 gnomAD v4
10g.71815105A>CCA377138381CDH23c.9892A>C (p.Asn3298His)
c.3825A>C (n.3825A>C)
c.3384A>C (n.3384A>C)
c.9907A>C (p.Asn3303His)
c.3172A>C (p.Asn1058His)
n.3323A>C
c.3067A>C (p.Asn1023His)
c.583A>C (p.Asn195His)
c.478A>C (p.Asn160His)
c.10087A>C (p.Asn3363His)
c.10021A>C (p.Asn3341His)
c.10084A>C (p.Asn3362His)
c.10081A>C (p.Asn3361His)
c.10027A>C (p.Asn3343His)
c.9997A>C (p.Asn3333His)
c.9982A>C (p.Asn3328His)
c.9952A>C (p.Asn3318His)
c.9547A>C (p.Asn3183His)
c.8905A>C (p.Asn2969His)
c.6415A>C (p.Asn2139His)
10g.71815105A>GCA377138379CDH23c.9892A>G (p.Asn3298Asp)
c.3825A>G (n.3825A>G)
c.3384A>G (n.3384A>G)
c.9907A>G (p.Asn3303Asp)
c.3172A>G (p.Asn1058Asp)
n.3323A>G
c.3067A>G (p.Asn1023Asp)
c.583A>G (p.Asn195Asp)
c.478A>G (p.Asn160Asp)
c.10087A>G (p.Asn3363Asp)
c.10021A>G (p.Asn3341Asp)
c.10084A>G (p.Asn3362Asp)
c.10081A>G (p.Asn3361Asp)
c.10027A>G (p.Asn3343Asp)
c.9997A>G (p.Asn3333Asp)
c.9982A>G (p.Asn3328Asp)
c.9952A>G (p.Asn3318Asp)
c.9547A>G (p.Asn3183Asp)
c.8905A>G (p.Asn2969Asp)
c.6415A>G (p.Asn2139Asp)
10g.71815105A>TCA377138380CDH23c.9892A>T (p.Asn3298Tyr)
c.3825A>T (n.3825A>T)
c.3384A>T (n.3384A>T)
c.9907A>T (p.Asn3303Tyr)
c.3172A>T (p.Asn1058Tyr)
n.3323A>T
c.3067A>T (p.Asn1023Tyr)
c.583A>T (p.Asn195Tyr)
c.478A>T (p.Asn160Tyr)
c.10087A>T (p.Asn3363Tyr)
c.10021A>T (p.Asn3341Tyr)
c.10084A>T (p.Asn3362Tyr)
c.10081A>T (p.Asn3361Tyr)
c.10027A>T (p.Asn3343Tyr)
c.9997A>T (p.Asn3333Tyr)
c.9982A>T (p.Asn3328Tyr)
c.9952A>T (p.Asn3318Tyr)
c.9547A>T (p.Asn3183Tyr)
c.8905A>T (p.Asn2969Tyr)
c.6415A>T (p.Asn2139Tyr)
10g.71815106A>CCA377138384CDH23c.9893A>C (p.Asn3298Thr)
c.3826A>C (n.3826A>C)
c.3385A>C (n.3385A>C)
c.9908A>C (p.Asn3303Thr)
c.3173A>C (p.Asn1058Thr)
n.3324A>C
c.3068A>C (p.Asn1023Thr)
c.584A>C (p.Asn195Thr)
c.479A>C (p.Asn160Thr)
c.10088A>C (p.Asn3363Thr)
c.10022A>C (p.Asn3341Thr)
c.10085A>C (p.Asn3362Thr)
c.10082A>C (p.Asn3361Thr)
c.10028A>C (p.Asn3343Thr)
c.9998A>C (p.Asn3333Thr)
c.9983A>C (p.Asn3328Thr)
c.9953A>C (p.Asn3318Thr)
c.9548A>C (p.Asn3183Thr)
c.8906A>C (p.Asn2969Thr)
c.6416A>C (p.Asn2139Thr)
10g.71815106A>GCA377138385CDH23c.9893A>G (p.Asn3298Ser)
c.3826A>G (n.3826A>G)
c.3385A>G (n.3385A>G)
c.9908A>G (p.Asn3303Ser)
c.3173A>G (p.Asn1058Ser)
n.3324A>G
c.3068A>G (p.Asn1023Ser)
c.584A>G (p.Asn195Ser)
c.479A>G (p.Asn160Ser)
c.10088A>G (p.Asn3363Ser)
c.10022A>G (p.Asn3341Ser)
c.10085A>G (p.Asn3362Ser)
c.10082A>G (p.Asn3361Ser)
c.10028A>G (p.Asn3343Ser)
c.9998A>G (p.Asn3333Ser)
c.9983A>G (p.Asn3328Ser)
c.9953A>G (p.Asn3318Ser)
c.9548A>G (p.Asn3183Ser)
c.8906A>G (p.Asn2969Ser)
c.6416A>G (p.Asn2139Ser)
10g.71815106A>TCA377138387CDH23c.9893A>T (p.Asn3298Ile)
c.3826A>T (n.3826A>T)
c.3385A>T (n.3385A>T)
c.9908A>T (p.Asn3303Ile)
c.3173A>T (p.Asn1058Ile)
n.3324A>T
c.3068A>T (p.Asn1023Ile)
c.584A>T (p.Asn195Ile)
c.479A>T (p.Asn160Ile)
c.10088A>T (p.Asn3363Ile)
c.10022A>T (p.Asn3341Ile)
c.10085A>T (p.Asn3362Ile)
c.10082A>T (p.Asn3361Ile)
c.10028A>T (p.Asn3343Ile)
c.9998A>T (p.Asn3333Ile)
c.9983A>T (p.Asn3328Ile)
c.9953A>T (p.Asn3318Ile)
c.9548A>T (p.Asn3183Ile)
c.8906A>T (p.Asn2969Ile)
c.6416A>T (p.Asn2139Ile)
 dbSNP
10g.71815107C>ACA377138390CDH23c.9894C>A (p.Asn3298Lys)
c.3827C>A (n.3827C>A)
c.3386C>A (n.3386C>A)
c.9909C>A (p.Asn3303Lys)
c.3174C>A (p.Asn1058Lys)
n.3325C>A
c.3069C>A (p.Asn1023Lys)
c.585C>A (p.Asn195Lys)
c.480C>A (p.Asn160Lys)
c.10089C>A (p.Asn3363Lys)
c.10023C>A (p.Asn3341Lys)
c.10086C>A (p.Asn3362Lys)
c.10083C>A (p.Asn3361Lys)
c.10029C>A (p.Asn3343Lys)
c.9999C>A (p.Asn3333Lys)
c.9984C>A (p.Asn3328Lys)
c.9954C>A (p.Asn3318Lys)
c.9549C>A (p.Asn3183Lys)
c.8907C>A (p.Asn2969Lys)
c.6417C>A (p.Asn2139Lys)
 dbSNP gnomAD v2 gnomAD v4
10g.71815107C=CA1918895779CDH23c.9894C= (p.Asn3298=)
c.3827C= (n.3827C=)
c.3386C= (n.3386C=)
c.9909C= (p.Asn3303=)
c.3174C= (p.Asn1058=)
n.3325C=
c.3069C= (p.Asn1023=)
c.585C= (p.Asn195=)
c.480C= (p.Asn160=)
c.10089C= (p.Asn3363=)
c.10023C= (p.Asn3341=)
c.10086C= (p.Asn3362=)
c.10083C= (p.Asn3361=)
c.10029C= (p.Asn3343=)
c.9999C= (p.Asn3333=)
c.9984C= (p.Asn3328=)
c.9954C= (p.Asn3318=)
c.9549C= (p.Asn3183=)
c.8907C= (p.Asn2969=)
c.6417C= (p.Asn2139=)
10g.71815107C>GCA377138391CDH23c.9894C>G (p.Asn3298Lys)
c.3827C>G (n.3827C>G)
c.3386C>G (n.3386C>G)
c.9909C>G (p.Asn3303Lys)
c.3174C>G (p.Asn1058Lys)
n.3325C>G
c.3069C>G (p.Asn1023Lys)
c.585C>G (p.Asn195Lys)
c.480C>G (p.Asn160Lys)
c.10089C>G (p.Asn3363Lys)
c.10023C>G (p.Asn3341Lys)
c.10086C>G (p.Asn3362Lys)
c.10083C>G (p.Asn3361Lys)
c.10029C>G (p.Asn3343Lys)
c.9999C>G (p.Asn3333Lys)
c.9984C>G (p.Asn3328Lys)
c.9954C>G (p.Asn3318Lys)
c.9549C>G (p.Asn3183Lys)
c.8907C>G (p.Asn2969Lys)
c.6417C>G (p.Asn2139Lys)
10g.71815107C>TCA470283282CDH23c.9894C>T (p.Asn3298=)
c.3827C>T (n.3827C>T)
c.3386C>T (n.3386C>T)
c.9909C>T (p.Asn3303=)
c.3174C>T (p.Asn1058=)
n.3325C>T
c.3069C>T (p.Asn1023=)
c.585C>T (p.Asn195=)
c.480C>T (p.Asn160=)
c.10089C>T (p.Asn3363=)
c.10023C>T (p.Asn3341=)
c.10086C>T (p.Asn3362=)
c.10083C>T (p.Asn3361=)
c.10029C>T (p.Asn3343=)
c.9999C>T (p.Asn3333=)
c.9984C>T (p.Asn3328=)
c.9954C>T (p.Asn3318=)
c.9549C>T (p.Asn3183=)
c.8907C>T (p.Asn2969=)
c.6417C>T (p.Asn2139=)
 dbSNP gnomAD v2
10g.71815108A=CA1918895783CDH23c.9895A= (p.Ser3299=)
c.3828A= (n.3828A=)
c.3387A= (n.3387A=)
c.9910A= (p.Ser3304=)
c.3175A= (p.Ser1059=)
n.3326A=
c.3070A= (p.Ser1024=)
c.586A= (p.Ser196=)
c.481A= (p.Ser161=)
c.10090A= (p.Ser3364=)
c.10024A= (p.Ser3342=)
c.10087A= (p.Ser3363=)
c.10084A= (p.Ser3362=)
c.10030A= (p.Ser3344=)
c.10000A= (p.Ser3334=)
c.9985A= (p.Ser3329=)
c.9955A= (p.Ser3319=)
c.9550A= (p.Ser3184=)
c.8908A= (p.Ser2970=)
c.6418A= (p.Ser2140=)
10g.71815108A>CCA377138394CDH23c.9895A>C (p.Ser3299Arg)
c.3828A>C (n.3828A>C)
c.3387A>C (n.3387A>C)
c.9910A>C (p.Ser3304Arg)
c.3175A>C (p.Ser1059Arg)
n.3326A>C
c.3070A>C (p.Ser1024Arg)
c.586A>C (p.Ser196Arg)
c.481A>C (p.Ser161Arg)
c.10090A>C (p.Ser3364Arg)
c.10024A>C (p.Ser3342Arg)
c.10087A>C (p.Ser3363Arg)
c.10084A>C (p.Ser3362Arg)
c.10030A>C (p.Ser3344Arg)
c.10000A>C (p.Ser3334Arg)
c.9985A>C (p.Ser3329Arg)
c.9955A>C (p.Ser3319Arg)
c.9550A>C (p.Ser3184Arg)
c.8908A>C (p.Ser2970Arg)
c.6418A>C (p.Ser2140Arg)
 gnomAD v4
10g.71815108A>GCA5547204CDH23c.9895A>G (p.Ser3299Gly)
c.3828A>G (n.3828A>G)
c.3387A>G (n.3387A>G)
c.9910A>G (p.Ser3304Gly)
c.3175A>G (p.Ser1059Gly)
n.3326A>G
c.3070A>G (p.Ser1024Gly)
c.586A>G (p.Ser196Gly)
c.481A>G (p.Ser161Gly)
c.10090A>G (p.Ser3364Gly)
c.10024A>G (p.Ser3342Gly)
c.10087A>G (p.Ser3363Gly)
c.10084A>G (p.Ser3362Gly)
c.10030A>G (p.Ser3344Gly)
c.10000A>G (p.Ser3334Gly)
c.9985A>G (p.Ser3329Gly)
c.9955A>G (p.Ser3319Gly)
c.9550A>G (p.Ser3184Gly)
c.8908A>G (p.Ser2970Gly)
c.6418A>G (p.Ser2140Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815108A>TCA377138396CDH23c.9895A>T (p.Ser3299Cys)
c.3828A>T (n.3828A>T)
c.3387A>T (n.3387A>T)
c.9910A>T (p.Ser3304Cys)
c.3175A>T (p.Ser1059Cys)
n.3326A>T
c.3070A>T (p.Ser1024Cys)
c.586A>T (p.Ser196Cys)
c.481A>T (p.Ser161Cys)
c.10090A>T (p.Ser3364Cys)
c.10024A>T (p.Ser3342Cys)
c.10087A>T (p.Ser3363Cys)
c.10084A>T (p.Ser3362Cys)
c.10030A>T (p.Ser3344Cys)
c.10000A>T (p.Ser3334Cys)
c.9985A>T (p.Ser3329Cys)
c.9955A>T (p.Ser3319Cys)
c.9550A>T (p.Ser3184Cys)
c.8908A>T (p.Ser2970Cys)
c.6418A>T (p.Ser2140Cys)
10g.71815109G>ACA377138400CDH23c.9896G>A (p.Ser3299Asn)
c.3829G>A (n.3829G>A)
c.3388G>A (n.3388G>A)
c.9911G>A (p.Ser3304Asn)
c.3176G>A (p.Ser1059Asn)
n.3327G>A
c.3071G>A (p.Ser1024Asn)
c.587G>A (p.Ser196Asn)
c.482G>A (p.Ser161Asn)
c.10091G>A (p.Ser3364Asn)
c.10025G>A (p.Ser3342Asn)
c.10088G>A (p.Ser3363Asn)
c.10085G>A (p.Ser3362Asn)
c.10031G>A (p.Ser3344Asn)
c.10001G>A (p.Ser3334Asn)
c.9986G>A (p.Ser3329Asn)
c.9956G>A (p.Ser3319Asn)
c.9551G>A (p.Ser3184Asn)
c.8909G>A (p.Ser2970Asn)
c.6419G>A (p.Ser2140Asn)
 gnomAD v4
10g.71815109G>CCA377138401CDH23c.9896G>C (p.Ser3299Thr)
c.3829G>C (n.3829G>C)
c.3388G>C (n.3388G>C)
c.9911G>C (p.Ser3304Thr)
c.3176G>C (p.Ser1059Thr)
n.3327G>C
c.3071G>C (p.Ser1024Thr)
c.587G>C (p.Ser196Thr)
c.482G>C (p.Ser161Thr)
c.10091G>C (p.Ser3364Thr)
c.10025G>C (p.Ser3342Thr)
c.10088G>C (p.Ser3363Thr)
c.10085G>C (p.Ser3362Thr)
c.10031G>C (p.Ser3344Thr)
c.10001G>C (p.Ser3334Thr)
c.9986G>C (p.Ser3329Thr)
c.9956G>C (p.Ser3319Thr)
c.9551G>C (p.Ser3184Thr)
c.8909G>C (p.Ser2970Thr)
c.6419G>C (p.Ser2140Thr)
 gnomAD v4
10g.71815109G>TCA377138403CDH23c.9896G>T (p.Ser3299Ile)
c.3829G>T (n.3829G>T)
c.3388G>T (n.3388G>T)
c.9911G>T (p.Ser3304Ile)
c.3176G>T (p.Ser1059Ile)
n.3327G>T
c.3071G>T (p.Ser1024Ile)
c.587G>T (p.Ser196Ile)
c.482G>T (p.Ser161Ile)
c.10091G>T (p.Ser3364Ile)
c.10025G>T (p.Ser3342Ile)
c.10088G>T (p.Ser3363Ile)
c.10085G>T (p.Ser3362Ile)
c.10031G>T (p.Ser3344Ile)
c.10001G>T (p.Ser3334Ile)
c.9986G>T (p.Ser3329Ile)
c.9956G>T (p.Ser3319Ile)
c.9551G>T (p.Ser3184Ile)
c.8909G>T (p.Ser2970Ile)
c.6419G>T (p.Ser2140Ile)
 gnomAD v4
10g.71815110C>ACA377138406CDH23c.9897C>A (p.Ser3299Arg)
c.3830C>A (n.3830C>A)
c.3389C>A (n.3389C>A)
c.9912C>A (p.Ser3304Arg)
c.3177C>A (p.Ser1059Arg)
n.3328C>A
c.3072C>A (p.Ser1024Arg)
c.588C>A (p.Ser196Arg)
c.483C>A (p.Ser161Arg)
c.10092C>A (p.Ser3364Arg)
c.10026C>A (p.Ser3342Arg)
c.10089C>A (p.Ser3363Arg)
c.10086C>A (p.Ser3362Arg)
c.10032C>A (p.Ser3344Arg)
c.10002C>A (p.Ser3334Arg)
c.9987C>A (p.Ser3329Arg)
c.9957C>A (p.Ser3319Arg)
c.9552C>A (p.Ser3184Arg)
c.8910C>A (p.Ser2970Arg)
c.6420C>A (p.Ser2140Arg)
10g.71815110C=CA1918895786CDH23c.9897C= (p.Ser3299=)
c.3830C= (n.3830C=)
c.3389C= (n.3389C=)
c.9912C= (p.Ser3304=)
c.3177C= (p.Ser1059=)
n.3328C=
c.3072C= (p.Ser1024=)
c.588C= (p.Ser196=)
c.483C= (p.Ser161=)
c.10092C= (p.Ser3364=)
c.10026C= (p.Ser3342=)
c.10089C= (p.Ser3363=)
c.10086C= (p.Ser3362=)
c.10032C= (p.Ser3344=)
c.10002C= (p.Ser3334=)
c.9987C= (p.Ser3329=)
c.9957C= (p.Ser3319=)
c.9552C= (p.Ser3184=)
c.8910C= (p.Ser2970=)
c.6420C= (p.Ser2140=)
10g.71815110C>GCA377138407CDH23c.9897C>G (p.Ser3299Arg)
c.3830C>G (n.3830C>G)
c.3389C>G (n.3389C>G)
c.9912C>G (p.Ser3304Arg)
c.3177C>G (p.Ser1059Arg)
n.3328C>G
c.3072C>G (p.Ser1024Arg)
c.588C>G (p.Ser196Arg)
c.483C>G (p.Ser161Arg)
c.10092C>G (p.Ser3364Arg)
c.10026C>G (p.Ser3342Arg)
c.10089C>G (p.Ser3363Arg)
c.10086C>G (p.Ser3362Arg)
c.10032C>G (p.Ser3344Arg)
c.10002C>G (p.Ser3334Arg)
c.9987C>G (p.Ser3329Arg)
c.9957C>G (p.Ser3319Arg)
c.9552C>G (p.Ser3184Arg)
c.8910C>G (p.Ser2970Arg)
c.6420C>G (p.Ser2140Arg)
10g.71815110C>TCA5547205CDH23c.9897C>T (p.Ser3299=)
c.3830C>T (n.3830C>T)
c.3389C>T (n.3389C>T)
c.9912C>T (p.Ser3304=)
c.3177C>T (p.Ser1059=)
n.3328C>T
c.3072C>T (p.Ser1024=)
c.588C>T (p.Ser196=)
c.483C>T (p.Ser161=)
c.10092C>T (p.Ser3364=)
c.10026C>T (p.Ser3342=)
c.10089C>T (p.Ser3363=)
c.10086C>T (p.Ser3362=)
c.10032C>T (p.Ser3344=)
c.10002C>T (p.Ser3334=)
c.9987C>T (p.Ser3329=)
c.9957C>T (p.Ser3319=)
c.9552C>T (p.Ser3184=)
c.8910C>T (p.Ser2970=)
c.6420C>T (p.Ser2140=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71815111C>ACA377138409CDH23c.9898C>A (p.Leu3300Met)
c.3831C>A (n.3831C>A)
c.3390C>A (n.3390C>A)
c.9913C>A (p.Leu3305Met)
c.3178C>A (p.Leu1060Met)
n.3329C>A
c.3073C>A (p.Leu1025Met)
c.589C>A (p.Leu197Met)
c.484C>A (p.Leu162Met)
c.10093C>A (p.Leu3365Met)
c.10027C>A (p.Leu3343Met)
c.10090C>A (p.Leu3364Met)
c.10087C>A (p.Leu3363Met)
c.10033C>A (p.Leu3345Met)
c.10003C>A (p.Leu3335Met)
c.9988C>A (p.Leu3330Met)
c.9958C>A (p.Leu3320Met)
c.9553C>A (p.Leu3185Met)
c.8911C>A (p.Leu2971Met)
c.6421C>A (p.Leu2141Met)
10g.71815111C>GCA377138416CDH23c.9898C>G (p.Leu3300Val)
c.3831C>G (n.3831C>G)
c.3390C>G (n.3390C>G)
c.9913C>G (p.Leu3305Val)
c.3178C>G (p.Leu1060Val)
n.3329C>G
c.3073C>G (p.Leu1025Val)
c.589C>G (p.Leu197Val)
c.484C>G (p.Leu162Val)
c.10093C>G (p.Leu3365Val)
c.10027C>G (p.Leu3343Val)
c.10090C>G (p.Leu3364Val)
c.10087C>G (p.Leu3363Val)
c.10033C>G (p.Leu3345Val)
c.10003C>G (p.Leu3335Val)
c.9988C>G (p.Leu3330Val)
c.9958C>G (p.Leu3320Val)
c.9553C>G (p.Leu3185Val)
c.8911C>G (p.Leu2971Val)
c.6421C>G (p.Leu2141Val)
10g.71815111C>TCA470283287CDH23c.9898C>T (p.Leu3300=)
c.3831C>T (n.3831C>T)
c.3390C>T (n.3390C>T)
c.9913C>T (p.Leu3305=)
c.3178C>T (p.Leu1060=)
n.3329C>T
c.3073C>T (p.Leu1025=)
c.589C>T (p.Leu197=)
c.484C>T (p.Leu162=)
c.10093C>T (p.Leu3365=)
c.10027C>T (p.Leu3343=)
c.10090C>T (p.Leu3364=)
c.10087C>T (p.Leu3363=)
c.10033C>T (p.Leu3345=)
c.10003C>T (p.Leu3335=)
c.9988C>T (p.Leu3330=)
c.9958C>T (p.Leu3320=)
c.9553C>T (p.Leu3185=)
c.8911C>T (p.Leu2971=)
c.6421C>T (p.Leu2141=)
 ClinVar
10g.71815112T>ACA377138418CDH23c.9899T>A (p.Leu3300Gln)
c.3832T>A (n.3832T>A)
c.3391T>A (n.3391T>A)
c.9914T>A (p.Leu3305Gln)
c.3179T>A (p.Leu1060Gln)
n.3330T>A
c.3074T>A (p.Leu1025Gln)
c.590T>A (p.Leu197Gln)
c.485T>A (p.Leu162Gln)
c.10094T>A (p.Leu3365Gln)
c.10028T>A (p.Leu3343Gln)
c.10091T>A (p.Leu3364Gln)
c.10088T>A (p.Leu3363Gln)
c.10034T>A (p.Leu3345Gln)
c.10004T>A (p.Leu3335Gln)
c.9989T>A (p.Leu3330Gln)
c.9959T>A (p.Leu3320Gln)
c.9554T>A (p.Leu3185Gln)
c.8912T>A (p.Leu2971Gln)
c.6422T>A (p.Leu2141Gln)
10g.71815112T>CCA377138420CDH23c.9899T>C (p.Leu3300Pro)
c.3832T>C (n.3832T>C)
c.3391T>C (n.3391T>C)
c.9914T>C (p.Leu3305Pro)
c.3179T>C (p.Leu1060Pro)
n.3330T>C
c.3074T>C (p.Leu1025Pro)
c.590T>C (p.Leu197Pro)
c.485T>C (p.Leu162Pro)
c.10094T>C (p.Leu3365Pro)
c.10028T>C (p.Leu3343Pro)
c.10091T>C (p.Leu3364Pro)
c.10088T>C (p.Leu3363Pro)
c.10034T>C (p.Leu3345Pro)
c.10004T>C (p.Leu3335Pro)
c.9989T>C (p.Leu3330Pro)
c.9959T>C (p.Leu3320Pro)
c.9554T>C (p.Leu3185Pro)
c.8912T>C (p.Leu2971Pro)
c.6422T>C (p.Leu2141Pro)
10g.71815112T>GCA377138426CDH23c.9899T>G (p.Leu3300Arg)
c.3832T>G (n.3832T>G)
c.3391T>G (n.3391T>G)
c.9914T>G (p.Leu3305Arg)
c.3179T>G (p.Leu1060Arg)
n.3330T>G
c.3074T>G (p.Leu1025Arg)
c.590T>G (p.Leu197Arg)
c.485T>G (p.Leu162Arg)
c.10094T>G (p.Leu3365Arg)
c.10028T>G (p.Leu3343Arg)
c.10091T>G (p.Leu3364Arg)
c.10088T>G (p.Leu3363Arg)
c.10034T>G (p.Leu3345Arg)
c.10004T>G (p.Leu3335Arg)
c.9989T>G (p.Leu3330Arg)
c.9959T>G (p.Leu3320Arg)
c.9554T>G (p.Leu3185Arg)
c.8912T>G (p.Leu2971Arg)
c.6422T>G (p.Leu2141Arg)
10g.71815113G>ACA470283288CDH23c.9900G>A (p.Leu3300=)
c.3833G>A (n.3833G>A)
c.3392G>A (n.3392G>A)
c.9915G>A (p.Leu3305=)
c.3180G>A (p.Leu1060=)
n.3331G>A
c.3075G>A (p.Leu1025=)
c.591G>A (p.Leu197=)
c.486G>A (p.Leu162=)
c.10095G>A (p.Leu3365=)
c.10029G>A (p.Leu3343=)
c.10092G>A (p.Leu3364=)
c.10089G>A (p.Leu3363=)
c.10035G>A (p.Leu3345=)
c.10005G>A (p.Leu3335=)
c.9990G>A (p.Leu3330=)
c.9960G>A (p.Leu3320=)
c.9555G>A (p.Leu3185=)
c.8913G>A (p.Leu2971=)
c.6423G>A (p.Leu2141=)
 dbSNP
10g.71815113G>CCA470283289CDH23c.9900G>C (p.Leu3300=)
c.3833G>C (n.3833G>C)
c.3392G>C (n.3392G>C)
c.9915G>C (p.Leu3305=)
c.3180G>C (p.Leu1060=)
n.3331G>C
c.3075G>C (p.Leu1025=)
c.591G>C (p.Leu197=)
c.486G>C (p.Leu162=)
c.10095G>C (p.Leu3365=)
c.10029G>C (p.Leu3343=)
c.10092G>C (p.Leu3364=)
c.10089G>C (p.Leu3363=)
c.10035G>C (p.Leu3345=)
c.10005G>C (p.Leu3335=)
c.9990G>C (p.Leu3330=)
c.9960G>C (p.Leu3320=)
c.9555G>C (p.Leu3185=)
c.8913G>C (p.Leu2971=)
c.6423G>C (p.Leu2141=)
10g.71815113G=CA1918895788CDH23c.9900G= (p.Leu3300=)
c.3833G= (n.3833G=)
c.3392G= (n.3392G=)
c.9915G= (p.Leu3305=)
c.3180G= (p.Leu1060=)
n.3331G=
c.3075G= (p.Leu1025=)
c.591G= (p.Leu197=)
c.486G= (p.Leu162=)
c.10095G= (p.Leu3365=)
c.10029G= (p.Leu3343=)
c.10092G= (p.Leu3364=)
c.10089G= (p.Leu3363=)
c.10035G= (p.Leu3345=)
c.10005G= (p.Leu3335=)
c.9990G= (p.Leu3330=)
c.9960G= (p.Leu3320=)
c.9555G= (p.Leu3185=)
c.8913G= (p.Leu2971=)
c.6423G= (p.Leu2141=)
10g.71815113G>TCA470283290CDH23c.9900G>T (p.Leu3300=)
c.3833G>T (n.3833G>T)
c.3392G>T (n.3392G>T)
c.9915G>T (p.Leu3305=)
c.3180G>T (p.Leu1060=)
n.3331G>T
c.3075G>T (p.Leu1025=)
c.591G>T (p.Leu197=)
c.486G>T (p.Leu162=)
c.10095G>T (p.Leu3365=)
c.10029G>T (p.Leu3343=)
c.10092G>T (p.Leu3364=)
c.10089G>T (p.Leu3363=)
c.10035G>T (p.Leu3345=)
c.10005G>T (p.Leu3335=)
c.9990G>T (p.Leu3330=)
c.9960G>T (p.Leu3320=)
c.9555G>T (p.Leu3185=)
c.8913G>T (p.Leu2971=)
c.6423G>T (p.Leu2141=)
 gnomAD v4
10g.71815114C>ACA377138433CDH23c.9901C>A (p.Pro3301Thr)
c.3834C>A (n.3834C>A)
c.3393C>A (n.3393C>A)
c.9916C>A (p.Pro3306Thr)
c.3181C>A (p.Pro1061Thr)
n.3332C>A
c.3076C>A (p.Pro1026Thr)
c.592C>A (p.Pro198Thr)
c.487C>A (p.Pro163Thr)
c.10096C>A (p.Pro3366Thr)
c.10030C>A (p.Pro3344Thr)
c.10093C>A (p.Pro3365Thr)
c.10090C>A (p.Pro3364Thr)
c.10036C>A (p.Pro3346Thr)
c.10006C>A (p.Pro3336Thr)
c.9991C>A (p.Pro3331Thr)
c.9961C>A (p.Pro3321Thr)
c.9556C>A (p.Pro3186Thr)
c.8914C>A (p.Pro2972Thr)
c.6424C>A (p.Pro2142Thr)
10g.71815114C=CA1918895791CDH23c.9901C= (p.Pro3301=)
c.3834C= (n.3834C=)
c.3393C= (n.3393C=)
c.9916C= (p.Pro3306=)
c.3181C= (p.Pro1061=)
n.3332C=
c.3076C= (p.Pro1026=)
c.592C= (p.Pro198=)
c.487C= (p.Pro163=)
c.10096C= (p.Pro3366=)
c.10030C= (p.Pro3344=)
c.10093C= (p.Pro3365=)
c.10090C= (p.Pro3364=)
c.10036C= (p.Pro3346=)
c.10006C= (p.Pro3336=)
c.9991C= (p.Pro3331=)
c.9961C= (p.Pro3321=)
c.9556C= (p.Pro3186=)
c.8914C= (p.Pro2972=)
c.6424C= (p.Pro2142=)
10g.71815114C>GCA377138431CDH23c.9901C>G (p.Pro3301Ala)
c.3834C>G (n.3834C>G)
c.3393C>G (n.3393C>G)
c.9916C>G (p.Pro3306Ala)
c.3181C>G (p.Pro1061Ala)
n.3332C>G
c.3076C>G (p.Pro1026Ala)
c.592C>G (p.Pro198Ala)
c.487C>G (p.Pro163Ala)
c.10096C>G (p.Pro3366Ala)
c.10030C>G (p.Pro3344Ala)
c.10093C>G (p.Pro3365Ala)
c.10090C>G (p.Pro3364Ala)
c.10036C>G (p.Pro3346Ala)
c.10006C>G (p.Pro3336Ala)
c.9991C>G (p.Pro3331Ala)
c.9961C>G (p.Pro3321Ala)
c.9556C>G (p.Pro3186Ala)
c.8914C>G (p.Pro2972Ala)
c.6424C>G (p.Pro2142Ala)
10g.71815114C>TCA377138428CDH23c.9901C>T (p.Pro3301Ser)
c.3834C>T (n.3834C>T)
c.3393C>T (n.3393C>T)
c.9916C>T (p.Pro3306Ser)
c.3181C>T (p.Pro1061Ser)
n.3332C>T
c.3076C>T (p.Pro1026Ser)
c.592C>T (p.Pro198Ser)
c.487C>T (p.Pro163Ser)
c.10096C>T (p.Pro3366Ser)
c.10030C>T (p.Pro3344Ser)
c.10093C>T (p.Pro3365Ser)
c.10090C>T (p.Pro3364Ser)
c.10036C>T (p.Pro3346Ser)
c.10006C>T (p.Pro3336Ser)
c.9991C>T (p.Pro3331Ser)
c.9961C>T (p.Pro3321Ser)
c.9556C>T (p.Pro3186Ser)
c.8914C>T (p.Pro2972Ser)
c.6424C>T (p.Pro2142Ser)
 dbSNP gnomAD v2 gnomAD v4
10g.71815115C>ACA377138435CDH23c.9902C>A (p.Pro3301His)
c.3835C>A (n.3835C>A)
c.3394C>A (n.3394C>A)
c.9917C>A (p.Pro3306His)
c.3182C>A (p.Pro1061His)
n.3333C>A
c.3077C>A (p.Pro1026His)
c.593C>A (p.Pro198His)
c.488C>A (p.Pro163His)
c.10097C>A (p.Pro3366His)
c.10031C>A (p.Pro3344His)
c.10094C>A (p.Pro3365His)
c.10091C>A (p.Pro3364His)
c.10037C>A (p.Pro3346His)
c.10007C>A (p.Pro3336His)
c.9992C>A (p.Pro3331His)
c.9962C>A (p.Pro3321His)
c.9557C>A (p.Pro3186His)
c.8915C>A (p.Pro2972His)
c.6425C>A (p.Pro2142His)
 COSMIC
10g.71815115C>GCA377138437CDH23c.9902C>G (p.Pro3301Arg)
c.3835C>G (n.3835C>G)
c.3394C>G (n.3394C>G)
c.9917C>G (p.Pro3306Arg)
c.3182C>G (p.Pro1061Arg)
n.3333C>G
c.3077C>G (p.Pro1026Arg)
c.593C>G (p.Pro198Arg)
c.488C>G (p.Pro163Arg)
c.10097C>G (p.Pro3366Arg)
c.10031C>G (p.Pro3344Arg)
c.10094C>G (p.Pro3365Arg)
c.10091C>G (p.Pro3364Arg)
c.10037C>G (p.Pro3346Arg)
c.10007C>G (p.Pro3336Arg)
c.9992C>G (p.Pro3331Arg)
c.9962C>G (p.Pro3321Arg)
c.9557C>G (p.Pro3186Arg)
c.8915C>G (p.Pro2972Arg)
c.6425C>G (p.Pro2142Arg)
10g.71815115C>TCA377138439CDH23c.9902C>T (p.Pro3301Leu)
c.3835C>T (n.3835C>T)
c.3394C>T (n.3394C>T)
c.9917C>T (p.Pro3306Leu)
c.3182C>T (p.Pro1061Leu)
n.3333C>T
c.3077C>T (p.Pro1026Leu)
c.593C>T (p.Pro198Leu)
c.488C>T (p.Pro163Leu)
c.10097C>T (p.Pro3366Leu)
c.10031C>T (p.Pro3344Leu)
c.10094C>T (p.Pro3365Leu)
c.10091C>T (p.Pro3364Leu)
c.10037C>T (p.Pro3346Leu)
c.10007C>T (p.Pro3336Leu)
c.9992C>T (p.Pro3331Leu)
c.9962C>T (p.Pro3321Leu)
c.9557C>T (p.Pro3186Leu)
c.8915C>T (p.Pro2972Leu)
c.6425C>T (p.Pro2142Leu)
10g.71815116C>ACA5547206CDH23c.9903C>A (p.Pro3301=)
c.3836C>A (n.3836C>A)
c.3395C>A (n.3395C>A)
c.9918C>A (p.Pro3306=)
c.3183C>A (p.Pro1061=)
n.3334C>A
c.3078C>A (p.Pro1026=)
c.594C>A (p.Pro198=)
c.489C>A (p.Pro163=)
c.10098C>A (p.Pro3366=)
c.10032C>A (p.Pro3344=)
c.10095C>A (p.Pro3365=)
c.10092C>A (p.Pro3364=)
c.10038C>A (p.Pro3346=)
c.10008C>A (p.Pro3336=)
c.9993C>A (p.Pro3331=)
c.9963C>A (p.Pro3321=)
c.9558C>A (p.Pro3186=)
c.8916C>A (p.Pro2972=)
c.6426C>A (p.Pro2142=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815116C=CA1918895793CDH23c.9903C= (p.Pro3301=)
c.3836C= (n.3836C=)
c.3395C= (n.3395C=)
c.9918C= (p.Pro3306=)
c.3183C= (p.Pro1061=)
n.3334C=
c.3078C= (p.Pro1026=)
c.594C= (p.Pro198=)
c.489C= (p.Pro163=)
c.10098C= (p.Pro3366=)
c.10032C= (p.Pro3344=)
c.10095C= (p.Pro3365=)
c.10092C= (p.Pro3364=)
c.10038C= (p.Pro3346=)
c.10008C= (p.Pro3336=)
c.9993C= (p.Pro3331=)
c.9963C= (p.Pro3321=)
c.9558C= (p.Pro3186=)
c.8916C= (p.Pro2972=)
c.6426C= (p.Pro2142=)
10g.71815116C>GCA470283293CDH23c.9903C>G (p.Pro3301=)
c.3836C>G (n.3836C>G)
c.3395C>G (n.3395C>G)
c.9918C>G (p.Pro3306=)
c.3183C>G (p.Pro1061=)
n.3334C>G
c.3078C>G (p.Pro1026=)
c.594C>G (p.Pro198=)
c.489C>G (p.Pro163=)
c.10098C>G (p.Pro3366=)
c.10032C>G (p.Pro3344=)
c.10095C>G (p.Pro3365=)
c.10092C>G (p.Pro3364=)
c.10038C>G (p.Pro3346=)
c.10008C>G (p.Pro3336=)
c.9993C>G (p.Pro3331=)
c.9963C>G (p.Pro3321=)
c.9558C>G (p.Pro3186=)
c.8916C>G (p.Pro2972=)
c.6426C>G (p.Pro2142=)
 ClinVar dbSNP gnomAD v4
10g.71815116C>TCA137651CDH23c.9903C>T (p.Pro3301=)
c.3836C>T (n.3836C>T)
c.3395C>T (n.3395C>T)
c.9918C>T (p.Pro3306=)
c.3183C>T (p.Pro1061=)
n.3334C>T
c.3078C>T (p.Pro1026=)
c.594C>T (p.Pro198=)
c.489C>T (p.Pro163=)
c.10098C>T (p.Pro3366=)
c.10032C>T (p.Pro3344=)
c.10095C>T (p.Pro3365=)
c.10092C>T (p.Pro3364=)
c.10038C>T (p.Pro3346=)
c.10008C>T (p.Pro3336=)
c.9993C>T (p.Pro3331=)
c.9963C>T (p.Pro3321=)
c.9558C>T (p.Pro3186=)
c.8916C>T (p.Pro2972=)
c.6426C>T (p.Pro2142=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815117G>ACA5547207CDH23c.9904G>A (p.Glu3302Lys)
c.3837G>A (n.3837G>A)
c.3396G>A (n.3396G>A)
c.9919G>A (p.Glu3307Lys)
c.3184G>A (p.Glu1062Lys)
n.3335G>A
c.3079G>A (p.Glu1027Lys)
c.595G>A (p.Glu199Lys)
c.490G>A (p.Glu164Lys)
c.10099G>A (p.Glu3367Lys)
c.10033G>A (p.Glu3345Lys)
c.10096G>A (p.Glu3366Lys)
c.10093G>A (p.Glu3365Lys)
c.10039G>A (p.Glu3347Lys)
c.10009G>A (p.Glu3337Lys)
c.9994G>A (p.Glu3332Lys)
c.9964G>A (p.Glu3322Lys)
c.9559G>A (p.Glu3187Lys)
c.8917G>A (p.Glu2973Lys)
c.6427G>A (p.Glu2143Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815117G>CCA377138445CDH23c.9904G>C (p.Glu3302Gln)
c.3837G>C (n.3837G>C)
c.3396G>C (n.3396G>C)
c.9919G>C (p.Glu3307Gln)
c.3184G>C (p.Glu1062Gln)
n.3335G>C
c.3079G>C (p.Glu1027Gln)
c.595G>C (p.Glu199Gln)
c.490G>C (p.Glu164Gln)
c.10099G>C (p.Glu3367Gln)
c.10033G>C (p.Glu3345Gln)
c.10096G>C (p.Glu3366Gln)
c.10093G>C (p.Glu3365Gln)
c.10039G>C (p.Glu3347Gln)
c.10009G>C (p.Glu3337Gln)
c.9994G>C (p.Glu3332Gln)
c.9964G>C (p.Glu3322Gln)
c.9559G>C (p.Glu3187Gln)
c.8917G>C (p.Glu2973Gln)
c.6427G>C (p.Glu2143Gln)
 dbSNP gnomAD v4
10g.71815117G=CA1918895796CDH23c.9904G= (p.Glu3302=)
c.3837G= (n.3837G=)
c.3396G= (n.3396G=)
c.9919G= (p.Glu3307=)
c.3184G= (p.Glu1062=)
n.3335G=
c.3079G= (p.Glu1027=)
c.595G= (p.Glu199=)
c.490G= (p.Glu164=)
c.10099G= (p.Glu3367=)
c.10033G= (p.Glu3345=)
c.10096G= (p.Glu3366=)
c.10093G= (p.Glu3365=)
c.10039G= (p.Glu3347=)
c.10009G= (p.Glu3337=)
c.9994G= (p.Glu3332=)
c.9964G= (p.Glu3322=)
c.9559G= (p.Glu3187=)
c.8917G= (p.Glu2973=)
c.6427G= (p.Glu2143=)
10g.71815117G>TCA377138447CDH23c.9904G>T (p.Glu3302Ter)
c.3837G>T (n.3837G>T)
c.3396G>T (n.3396G>T)
c.9919G>T (p.Glu3307Ter)
c.3184G>T (p.Glu1062Ter)
n.3335G>T
c.3079G>T (p.Glu1027Ter)
c.595G>T (p.Glu199Ter)
c.490G>T (p.Glu164Ter)
c.10099G>T (p.Glu3367Ter)
c.10033G>T (p.Glu3345Ter)
c.10096G>T (p.Glu3366Ter)
c.10093G>T (p.Glu3365Ter)
c.10039G>T (p.Glu3347Ter)
c.10009G>T (p.Glu3337Ter)
c.9994G>T (p.Glu3332Ter)
c.9964G>T (p.Glu3322Ter)
c.9559G>T (p.Glu3187Ter)
c.8917G>T (p.Glu2973Ter)
c.6427G>T (p.Glu2143Ter)
 gnomAD v4
10g.71815118A=CA1918895801CDH23c.9905A= (p.Glu3302=)
c.3838A= (n.3838A=)
c.3397A= (n.3397A=)
c.9920A= (p.Glu3307=)
c.3185A= (p.Glu1062=)
n.3336A=
c.3080A= (p.Glu1027=)
c.596A= (p.Glu199=)
c.491A= (p.Glu164=)
c.10100A= (p.Glu3367=)
c.10034A= (p.Glu3345=)
c.10097A= (p.Glu3366=)
c.10094A= (p.Glu3365=)
c.10040A= (p.Glu3347=)
c.10010A= (p.Glu3337=)
c.9995A= (p.Glu3332=)
c.9965A= (p.Glu3322=)
c.9560A= (p.Glu3187=)
c.8918A= (p.Glu2973=)
c.6428A= (p.Glu2143=)
10g.71815118A>CCA377138449CDH23c.9905A>C (p.Glu3302Ala)
c.3838A>C (n.3838A>C)
c.3397A>C (n.3397A>C)
c.9920A>C (p.Glu3307Ala)
c.3185A>C (p.Glu1062Ala)
n.3336A>C
c.3080A>C (p.Glu1027Ala)
c.596A>C (p.Glu199Ala)
c.491A>C (p.Glu164Ala)
c.10100A>C (p.Glu3367Ala)
c.10034A>C (p.Glu3345Ala)
c.10097A>C (p.Glu3366Ala)
c.10094A>C (p.Glu3365Ala)
c.10040A>C (p.Glu3347Ala)
c.10010A>C (p.Glu3337Ala)
c.9995A>C (p.Glu3332Ala)
c.9965A>C (p.Glu3322Ala)
c.9560A>C (p.Glu3187Ala)
c.8918A>C (p.Glu2973Ala)
c.6428A>C (p.Glu2143Ala)
10g.71815118A>GCA377138451CDH23c.9905A>G (p.Glu3302Gly)
c.3838A>G (n.3838A>G)
c.3397A>G (n.3397A>G)
c.9920A>G (p.Glu3307Gly)
c.3185A>G (p.Glu1062Gly)
n.3336A>G
c.3080A>G (p.Glu1027Gly)
c.596A>G (p.Glu199Gly)
c.491A>G (p.Glu164Gly)
c.10100A>G (p.Glu3367Gly)
c.10034A>G (p.Glu3345Gly)
c.10097A>G (p.Glu3366Gly)
c.10094A>G (p.Glu3365Gly)
c.10040A>G (p.Glu3347Gly)
c.10010A>G (p.Glu3337Gly)
c.9995A>G (p.Glu3332Gly)
c.9965A>G (p.Glu3322Gly)
c.9560A>G (p.Glu3187Gly)
c.8918A>G (p.Glu2973Gly)
c.6428A>G (p.Glu2143Gly)
 dbSNP
10g.71815118A>TCA377138453CDH23c.9905A>T (p.Glu3302Val)
c.3838A>T (n.3838A>T)
c.3397A>T (n.3397A>T)
c.9920A>T (p.Glu3307Val)
c.3185A>T (p.Glu1062Val)
n.3336A>T
c.3080A>T (p.Glu1027Val)
c.596A>T (p.Glu199Val)
c.491A>T (p.Glu164Val)
c.10100A>T (p.Glu3367Val)
c.10034A>T (p.Glu3345Val)
c.10097A>T (p.Glu3366Val)
c.10094A>T (p.Glu3365Val)
c.10040A>T (p.Glu3347Val)
c.10010A>T (p.Glu3337Val)
c.9995A>T (p.Glu3332Val)
c.9965A>T (p.Glu3322Val)
c.9560A>T (p.Glu3187Val)
c.8918A>T (p.Glu2973Val)
c.6428A>T (p.Glu2143Val)
10g.71815121_71815132delCA2609588717CDH23c.9908_9919del (p.Glu3303_Lys3306del)
c.3841_3852del (n.3841_3852del)
c.3400_3411del (n.3400_3411del)
c.9923_9934del (p.Glu3308_Lys3311del)
c.3188_3199del (p.Glu1063_Lys1066del)
n.3339_3350del
c.3083_3094del (p.Glu1028_Lys1031del)
c.599_610del (p.Glu200_Lys203del)
c.494_505del (p.Glu165_Lys168del)
c.10103_10114del (p.Glu3368_Lys3371del)
c.10037_10048del (p.Glu3346_Lys3349del)
c.10100_10111del (p.Glu3367_Lys3370del)
c.10097_10108del (p.Glu3366_Lys3369del)
c.10043_10054del (p.Glu3348_Lys3351del)
c.10013_10024del (p.Glu3338_Lys3341del)
c.9998_10009del (p.Glu3333_Lys3336del)
c.9968_9979del (p.Glu3323_Lys3326del)
c.9563_9574del (p.Glu3188_Lys3191del)
c.8921_8932del (p.Glu2974_Lys2977del)
c.6431_6442del (p.Glu2144_Lys2147del)
 gnomAD v4
10g.71815119G>ACA470283294CDH23c.9906G>A (p.Glu3302=)
c.3839G>A (n.3839G>A)
c.3398G>A (n.3398G>A)
c.9921G>A (p.Glu3307=)
c.3186G>A (p.Glu1062=)
n.3337G>A
c.3081G>A (p.Glu1027=)
c.597G>A (p.Glu199=)
c.492G>A (p.Glu164=)
c.10101G>A (p.Glu3367=)
c.10035G>A (p.Glu3345=)
c.10098G>A (p.Glu3366=)
c.10095G>A (p.Glu3365=)
c.10041G>A (p.Glu3347=)
c.10011G>A (p.Glu3337=)
c.9996G>A (p.Glu3332=)
c.9966G>A (p.Glu3322=)
c.9561G>A (p.Glu3187=)
c.8919G>A (p.Glu2973=)
c.6429G>A (p.Glu2143=)
 ClinVar dbSNP gnomAD v4
10g.71815119G>CCA377138456CDH23c.9906G>C (p.Glu3302Asp)
c.3839G>C (n.3839G>C)
c.3398G>C (n.3398G>C)
c.9921G>C (p.Glu3307Asp)
c.3186G>C (p.Glu1062Asp)
n.3337G>C
c.3081G>C (p.Glu1027Asp)
c.597G>C (p.Glu199Asp)
c.492G>C (p.Glu164Asp)
c.10101G>C (p.Glu3367Asp)
c.10035G>C (p.Glu3345Asp)
c.10098G>C (p.Glu3366Asp)
c.10095G>C (p.Glu3365Asp)
c.10041G>C (p.Glu3347Asp)
c.10011G>C (p.Glu3337Asp)
c.9996G>C (p.Glu3332Asp)
c.9966G>C (p.Glu3322Asp)
c.9561G>C (p.Glu3187Asp)
c.8919G>C (p.Glu2973Asp)
c.6429G>C (p.Glu2143Asp)
 dbSNP gnomAD v4
10g.71815119G=CA1918895803CDH23c.9906G= (p.Glu3302=)
c.3839G= (n.3839G=)
c.3398G= (n.3398G=)
c.9921G= (p.Glu3307=)
c.3186G= (p.Glu1062=)
n.3337G=
c.3081G= (p.Glu1027=)
c.597G= (p.Glu199=)
c.492G= (p.Glu164=)
c.10101G= (p.Glu3367=)
c.10035G= (p.Glu3345=)
c.10098G= (p.Glu3366=)
c.10095G= (p.Glu3365=)
c.10041G= (p.Glu3347=)
c.10011G= (p.Glu3337=)
c.9996G= (p.Glu3332=)
c.9966G= (p.Glu3322=)
c.9561G= (p.Glu3187=)
c.8919G= (p.Glu2973=)
c.6429G= (p.Glu2143=)
10g.71815119G>TCA377138458CDH23c.9906G>T (p.Glu3302Asp)
c.3839G>T (n.3839G>T)
c.3398G>T (n.3398G>T)
c.9921G>T (p.Glu3307Asp)
c.3186G>T (p.Glu1062Asp)
n.3337G>T
c.3081G>T (p.Glu1027Asp)
c.597G>T (p.Glu199Asp)
c.492G>T (p.Glu164Asp)
c.10101G>T (p.Glu3367Asp)
c.10035G>T (p.Glu3345Asp)
c.10098G>T (p.Glu3366Asp)
c.10095G>T (p.Glu3365Asp)
c.10041G>T (p.Glu3347Asp)
c.10011G>T (p.Glu3337Asp)
c.9996G>T (p.Glu3332Asp)
c.9966G>T (p.Glu3322Asp)
c.9561G>T (p.Glu3187Asp)
c.8919G>T (p.Glu2973Asp)
c.6429G>T (p.Glu2143Asp)
10g.71815120G>ACA377138464CDH23c.9907G>A (p.Glu3303Lys)
c.3840G>A (n.3840G>A)
c.3399G>A (n.3399G>A)
c.9922G>A (p.Glu3308Lys)
c.3187G>A (p.Glu1063Lys)
n.3338G>A
c.3082G>A (p.Glu1028Lys)
c.598G>A (p.Glu200Lys)
c.493G>A (p.Glu165Lys)
c.10102G>A (p.Glu3368Lys)
c.10036G>A (p.Glu3346Lys)
c.10099G>A (p.Glu3367Lys)
c.10096G>A (p.Glu3366Lys)
c.10042G>A (p.Glu3348Lys)
c.10012G>A (p.Glu3338Lys)
c.9997G>A (p.Glu3333Lys)
c.9967G>A (p.Glu3323Lys)
c.9562G>A (p.Glu3188Lys)
c.8920G>A (p.Glu2974Lys)
c.6430G>A (p.Glu2144Lys)
10g.71815120G>CCA377138465CDH23c.9907G>C (p.Glu3303Gln)
c.3840G>C (n.3840G>C)
c.3399G>C (n.3399G>C)
c.9922G>C (p.Glu3308Gln)
c.3187G>C (p.Glu1063Gln)
n.3338G>C
c.3082G>C (p.Glu1028Gln)
c.598G>C (p.Glu200Gln)
c.493G>C (p.Glu165Gln)
c.10102G>C (p.Glu3368Gln)
c.10036G>C (p.Glu3346Gln)
c.10099G>C (p.Glu3367Gln)
c.10096G>C (p.Glu3366Gln)
c.10042G>C (p.Glu3348Gln)
c.10012G>C (p.Glu3338Gln)
c.9997G>C (p.Glu3333Gln)
c.9967G>C (p.Glu3323Gln)
c.9562G>C (p.Glu3188Gln)
c.8920G>C (p.Glu2974Gln)
c.6430G>C (p.Glu2144Gln)
10g.71815120G>TCA377138461CDH23c.9907G>T (p.Glu3303Ter)
c.3840G>T (n.3840G>T)
c.3399G>T (n.3399G>T)
c.9922G>T (p.Glu3308Ter)
c.3187G>T (p.Glu1063Ter)
n.3338G>T
c.3082G>T (p.Glu1028Ter)
c.598G>T (p.Glu200Ter)
c.493G>T (p.Glu165Ter)
c.10102G>T (p.Glu3368Ter)
c.10036G>T (p.Glu3346Ter)
c.10099G>T (p.Glu3367Ter)
c.10096G>T (p.Glu3366Ter)
c.10042G>T (p.Glu3348Ter)
c.10012G>T (p.Glu3338Ter)
c.9997G>T (p.Glu3333Ter)
c.9967G>T (p.Glu3323Ter)
c.9562G>T (p.Glu3188Ter)
c.8920G>T (p.Glu2974Ter)
c.6430G>T (p.Glu2144Ter)
10g.71815121A>CCA377138466CDH23c.9908A>C (p.Glu3303Ala)
c.3841A>C (n.3841A>C)
c.3400A>C (n.3400A>C)
c.9923A>C (p.Glu3308Ala)
c.3188A>C (p.Glu1063Ala)
n.3339A>C
c.3083A>C (p.Glu1028Ala)
c.599A>C (p.Glu200Ala)
c.494A>C (p.Glu165Ala)
c.10103A>C (p.Glu3368Ala)
c.10037A>C (p.Glu3346Ala)
c.10100A>C (p.Glu3367Ala)
c.10097A>C (p.Glu3366Ala)
c.10043A>C (p.Glu3348Ala)
c.10013A>C (p.Glu3338Ala)
c.9998A>C (p.Glu3333Ala)
c.9968A>C (p.Glu3323Ala)
c.9563A>C (p.Glu3188Ala)
c.8921A>C (p.Glu2974Ala)
c.6431A>C (p.Glu2144Ala)
 gnomAD v4 COSMIC
10g.71815121A>GCA377138469CDH23c.9908A>G (p.Glu3303Gly)
c.3841A>G (n.3841A>G)
c.3400A>G (n.3400A>G)
c.9923A>G (p.Glu3308Gly)
c.3188A>G (p.Glu1063Gly)
n.3339A>G
c.3083A>G (p.Glu1028Gly)
c.599A>G (p.Glu200Gly)
c.494A>G (p.Glu165Gly)
c.10103A>G (p.Glu3368Gly)
c.10037A>G (p.Glu3346Gly)
c.10100A>G (p.Glu3367Gly)
c.10097A>G (p.Glu3366Gly)
c.10043A>G (p.Glu3348Gly)
c.10013A>G (p.Glu3338Gly)
c.9998A>G (p.Glu3333Gly)
c.9968A>G (p.Glu3323Gly)
c.9563A>G (p.Glu3188Gly)
c.8921A>G (p.Glu2974Gly)
c.6431A>G (p.Glu2144Gly)
10g.71815121A>TCA377138467CDH23c.9908A>T (p.Glu3303Val)
c.3841A>T (n.3841A>T)
c.3400A>T (n.3400A>T)
c.9923A>T (p.Glu3308Val)
c.3188A>T (p.Glu1063Val)
n.3339A>T
c.3083A>T (p.Glu1028Val)
c.599A>T (p.Glu200Val)
c.494A>T (p.Glu165Val)
c.10103A>T (p.Glu3368Val)
c.10037A>T (p.Glu3346Val)
c.10100A>T (p.Glu3367Val)
c.10097A>T (p.Glu3366Val)
c.10043A>T (p.Glu3348Val)
c.10013A>T (p.Glu3338Val)
c.9998A>T (p.Glu3333Val)
c.9968A>T (p.Glu3323Val)
c.9563A>T (p.Glu3188Val)
c.8921A>T (p.Glu2974Val)
c.6431A>T (p.Glu2144Val)
10g.71815122A>CCA377138470CDH23c.9909A>C (p.Glu3303Asp)
c.3842A>C (n.3842A>C)
c.3401A>C (n.3401A>C)
c.9924A>C (p.Glu3308Asp)
c.3189A>C (p.Glu1063Asp)
n.3340A>C
c.3084A>C (p.Glu1028Asp)
c.600A>C (p.Glu200Asp)
c.495A>C (p.Glu165Asp)
c.10104A>C (p.Glu3368Asp)
c.10038A>C (p.Glu3346Asp)
c.10101A>C (p.Glu3367Asp)
c.10098A>C (p.Glu3366Asp)
c.10044A>C (p.Glu3348Asp)
c.10014A>C (p.Glu3338Asp)
c.9999A>C (p.Glu3333Asp)
c.9969A>C (p.Glu3323Asp)
c.9564A>C (p.Glu3188Asp)
c.8922A>C (p.Glu2974Asp)
c.6432A>C (p.Glu2144Asp)
 gnomAD v4
10g.71815122A>GCA470283295CDH23c.9909A>G (p.Glu3303=)
c.3842A>G (n.3842A>G)
c.3401A>G (n.3401A>G)
c.9924A>G (p.Glu3308=)
c.3189A>G (p.Glu1063=)
n.3340A>G
c.3084A>G (p.Glu1028=)
c.600A>G (p.Glu200=)
c.495A>G (p.Glu165=)
c.10104A>G (p.Glu3368=)
c.10038A>G (p.Glu3346=)
c.10101A>G (p.Glu3367=)
c.10098A>G (p.Glu3366=)
c.10044A>G (p.Glu3348=)
c.10014A>G (p.Glu3338=)
c.9999A>G (p.Glu3333=)
c.9969A>G (p.Glu3323=)
c.9564A>G (p.Glu3188=)
c.8922A>G (p.Glu2974=)
c.6432A>G (p.Glu2144=)
10g.71815122A>TCA377138472CDH23c.9909A>T (p.Glu3303Asp)
c.3842A>T (n.3842A>T)
c.3401A>T (n.3401A>T)
c.9924A>T (p.Glu3308Asp)
c.3189A>T (p.Glu1063Asp)
n.3340A>T
c.3084A>T (p.Glu1028Asp)
c.600A>T (p.Glu200Asp)
c.495A>T (p.Glu165Asp)
c.10104A>T (p.Glu3368Asp)
c.10038A>T (p.Glu3346Asp)
c.10101A>T (p.Glu3367Asp)
c.10098A>T (p.Glu3366Asp)
c.10044A>T (p.Glu3348Asp)
c.10014A>T (p.Glu3338Asp)
c.9999A>T (p.Glu3333Asp)
c.9969A>T (p.Glu3323Asp)
c.9564A>T (p.Glu3188Asp)
c.8922A>T (p.Glu2974Asp)
c.6432A>T (p.Glu2144Asp)
10g.71815123G>ACA377138476CDH23c.9910G>A (p.Asp3304Asn)
c.3843G>A (n.3843G>A)
c.3402G>A (n.3402G>A)
c.9925G>A (p.Asp3309Asn)
c.3190G>A (p.Asp1064Asn)
n.3341G>A
c.3085G>A (p.Asp1029Asn)
c.601G>A (p.Asp201Asn)
c.496G>A (p.Asp166Asn)
c.10105G>A (p.Asp3369Asn)
c.10039G>A (p.Asp3347Asn)
c.10102G>A (p.Asp3368Asn)
c.10099G>A (p.Asp3367Asn)
c.10045G>A (p.Asp3349Asn)
c.10015G>A (p.Asp3339Asn)
c.10000G>A (p.Asp3334Asn)
c.9970G>A (p.Asp3324Asn)
c.9565G>A (p.Asp3189Asn)
c.8923G>A (p.Asp2975Asn)
c.6433G>A (p.Asp2145Asn)
10g.71815123G>CCA377138481CDH23c.9910G>C (p.Asp3304His)
c.3843G>C (n.3843G>C)
c.3402G>C (n.3402G>C)
c.9925G>C (p.Asp3309His)
c.3190G>C (p.Asp1064His)
n.3341G>C
c.3085G>C (p.Asp1029His)
c.601G>C (p.Asp201His)
c.496G>C (p.Asp166His)
c.10105G>C (p.Asp3369His)
c.10039G>C (p.Asp3347His)
c.10102G>C (p.Asp3368His)
c.10099G>C (p.Asp3367His)
c.10045G>C (p.Asp3349His)
c.10015G>C (p.Asp3339His)
c.10000G>C (p.Asp3334His)
c.9970G>C (p.Asp3324His)
c.9565G>C (p.Asp3189His)
c.8923G>C (p.Asp2975His)
c.6433G>C (p.Asp2145His)
10g.71815123G>TCA377138478CDH23c.9910G>T (p.Asp3304Tyr)
c.3843G>T (n.3843G>T)
c.3402G>T (n.3402G>T)
c.9925G>T (p.Asp3309Tyr)
c.3190G>T (p.Asp1064Tyr)
n.3341G>T
c.3085G>T (p.Asp1029Tyr)
c.601G>T (p.Asp201Tyr)
c.496G>T (p.Asp166Tyr)
c.10105G>T (p.Asp3369Tyr)
c.10039G>T (p.Asp3347Tyr)
c.10102G>T (p.Asp3368Tyr)
c.10099G>T (p.Asp3367Tyr)
c.10045G>T (p.Asp3349Tyr)
c.10015G>T (p.Asp3339Tyr)
c.10000G>T (p.Asp3334Tyr)
c.9970G>T (p.Asp3324Tyr)
c.9565G>T (p.Asp3189Tyr)
c.8923G>T (p.Asp2975Tyr)
c.6433G>T (p.Asp2145Tyr)
 gnomAD v4
10g.71815124A>CCA377138485CDH23c.9911A>C (p.Asp3304Ala)
c.3844A>C (n.3844A>C)
c.3403A>C (n.3403A>C)
c.9926A>C (p.Asp3309Ala)
c.3191A>C (p.Asp1064Ala)
n.3342A>C
c.3086A>C (p.Asp1029Ala)
c.602A>C (p.Asp201Ala)
c.497A>C (p.Asp166Ala)
c.10106A>C (p.Asp3369Ala)
c.10040A>C (p.Asp3347Ala)
c.10103A>C (p.Asp3368Ala)
c.10100A>C (p.Asp3367Ala)
c.10046A>C (p.Asp3349Ala)
c.10016A>C (p.Asp3339Ala)
c.10001A>C (p.Asp3334Ala)
c.9971A>C (p.Asp3324Ala)
c.9566A>C (p.Asp3189Ala)
c.8924A>C (p.Asp2975Ala)
c.6434A>C (p.Asp2145Ala)
10g.71815124A>GCA377138487CDH23c.9911A>G (p.Asp3304Gly)
c.3844A>G (n.3844A>G)
c.3403A>G (n.3403A>G)
c.9926A>G (p.Asp3309Gly)
c.3191A>G (p.Asp1064Gly)
n.3342A>G
c.3086A>G (p.Asp1029Gly)
c.602A>G (p.Asp201Gly)
c.497A>G (p.Asp166Gly)
c.10106A>G (p.Asp3369Gly)
c.10040A>G (p.Asp3347Gly)
c.10103A>G (p.Asp3368Gly)
c.10100A>G (p.Asp3367Gly)
c.10046A>G (p.Asp3349Gly)
c.10016A>G (p.Asp3339Gly)
c.10001A>G (p.Asp3334Gly)
c.9971A>G (p.Asp3324Gly)
c.9566A>G (p.Asp3189Gly)
c.8924A>G (p.Asp2975Gly)
c.6434A>G (p.Asp2145Gly)
 gnomAD v4
10g.71815124A>TCA377138491CDH23c.9911A>T (p.Asp3304Val)
c.3844A>T (n.3844A>T)
c.3403A>T (n.3403A>T)
c.9926A>T (p.Asp3309Val)
c.3191A>T (p.Asp1064Val)
n.3342A>T
c.3086A>T (p.Asp1029Val)
c.602A>T (p.Asp201Val)
c.497A>T (p.Asp166Val)
c.10106A>T (p.Asp3369Val)
c.10040A>T (p.Asp3347Val)
c.10103A>T (p.Asp3368Val)
c.10100A>T (p.Asp3367Val)
c.10046A>T (p.Asp3349Val)
c.10016A>T (p.Asp3339Val)
c.10001A>T (p.Asp3334Val)
c.9971A>T (p.Asp3324Val)
c.9566A>T (p.Asp3189Val)
c.8924A>T (p.Asp2975Val)
c.6434A>T (p.Asp2145Val)
10g.71815125C>ACA377138497CDH23c.9912C>A (p.Asp3304Glu)
c.3845C>A (n.3845C>A)
c.3404C>A (n.3404C>A)
c.9927C>A (p.Asp3309Glu)
c.3192C>A (p.Asp1064Glu)
n.3343C>A
c.3087C>A (p.Asp1029Glu)
c.603C>A (p.Asp201Glu)
c.498C>A (p.Asp166Glu)
c.10107C>A (p.Asp3369Glu)
c.10041C>A (p.Asp3347Glu)
c.10104C>A (p.Asp3368Glu)
c.10101C>A (p.Asp3367Glu)
c.10047C>A (p.Asp3349Glu)
c.10017C>A (p.Asp3339Glu)
c.10002C>A (p.Asp3334Glu)
c.9972C>A (p.Asp3324Glu)
c.9567C>A (p.Asp3189Glu)
c.8925C>A (p.Asp2975Glu)
c.6435C>A (p.Asp2145Glu)
10g.71815125C=CA1918895806CDH23c.9912C= (p.Asp3304=)
c.3845C= (n.3845C=)
c.3404C= (n.3404C=)
c.9927C= (p.Asp3309=)
c.3192C= (p.Asp1064=)
n.3343C=
c.3087C= (p.Asp1029=)
c.603C= (p.Asp201=)
c.498C= (p.Asp166=)
c.10107C= (p.Asp3369=)
c.10041C= (p.Asp3347=)
c.10104C= (p.Asp3368=)
c.10101C= (p.Asp3367=)
c.10047C= (p.Asp3349=)
c.10017C= (p.Asp3339=)
c.10002C= (p.Asp3334=)
c.9972C= (p.Asp3324=)
c.9567C= (p.Asp3189=)
c.8925C= (p.Asp2975=)
c.6435C= (p.Asp2145=)
10g.71815125C>GCA377138501CDH23c.9912C>G (p.Asp3304Glu)
c.3845C>G (n.3845C>G)
c.3404C>G (n.3404C>G)
c.9927C>G (p.Asp3309Glu)
c.3192C>G (p.Asp1064Glu)
n.3343C>G
c.3087C>G (p.Asp1029Glu)
c.603C>G (p.Asp201Glu)
c.498C>G (p.Asp166Glu)
c.10107C>G (p.Asp3369Glu)
c.10041C>G (p.Asp3347Glu)
c.10104C>G (p.Asp3368Glu)
c.10101C>G (p.Asp3367Glu)
c.10047C>G (p.Asp3349Glu)
c.10017C>G (p.Asp3339Glu)
c.10002C>G (p.Asp3334Glu)
c.9972C>G (p.Asp3324Glu)
c.9567C>G (p.Asp3189Glu)
c.8925C>G (p.Asp2975Glu)
c.6435C>G (p.Asp2145Glu)
 dbSNP
10g.71815125C>TCA470283296CDH23c.9912C>T (p.Asp3304=)
c.3845C>T (n.3845C>T)
c.3404C>T (n.3404C>T)
c.9927C>T (p.Asp3309=)
c.3192C>T (p.Asp1064=)
n.3343C>T
c.3087C>T (p.Asp1029=)
c.603C>T (p.Asp201=)
c.498C>T (p.Asp166=)
c.10107C>T (p.Asp3369=)
c.10041C>T (p.Asp3347=)
c.10104C>T (p.Asp3368=)
c.10101C>T (p.Asp3367=)
c.10047C>T (p.Asp3349=)
c.10017C>T (p.Asp3339=)
c.10002C>T (p.Asp3334=)
c.9972C>T (p.Asp3324=)
c.9567C>T (p.Asp3189=)
c.8925C>T (p.Asp2975=)
c.6435C>T (p.Asp2145=)
 dbSNP gnomAD v2 gnomAD v4
10g.71815126C>ACA377138504CDH23c.9913C>A (p.Gln3305Lys)
c.3846C>A (n.3846C>A)
c.3405C>A (n.3405C>A)
c.9928C>A (p.Gln3310Lys)
c.3193C>A (p.Gln1065Lys)
n.3344C>A
c.3088C>A (p.Gln1030Lys)
c.604C>A (p.Gln202Lys)
c.499C>A (p.Gln167Lys)
c.10108C>A (p.Gln3370Lys)
c.10042C>A (p.Gln3348Lys)
c.10105C>A (p.Gln3369Lys)
c.10102C>A (p.Gln3368Lys)
c.10048C>A (p.Gln3350Lys)
c.10018C>A (p.Gln3340Lys)
c.10003C>A (p.Gln3335Lys)
c.9973C>A (p.Gln3325Lys)
c.9568C>A (p.Gln3190Lys)
c.8926C>A (p.Gln2976Lys)
c.6436C>A (p.Gln2146Lys)
10g.71815126C=CA1918895808CDH23c.9913C= (p.Gln3305=)
c.3846C= (n.3846C=)
c.3405C= (n.3405C=)
c.9928C= (p.Gln3310=)
c.3193C= (p.Gln1065=)
n.3344C=
c.3088C= (p.Gln1030=)
c.604C= (p.Gln202=)
c.499C= (p.Gln167=)
c.10108C= (p.Gln3370=)
c.10042C= (p.Gln3348=)
c.10105C= (p.Gln3369=)
c.10102C= (p.Gln3368=)
c.10048C= (p.Gln3350=)
c.10018C= (p.Gln3340=)
c.10003C= (p.Gln3335=)
c.9973C= (p.Gln3325=)
c.9568C= (p.Gln3190=)
c.8926C= (p.Gln2976=)
c.6436C= (p.Gln2146=)
10g.71815126C>GCA377138509CDH23c.9913C>G (p.Gln3305Glu)
c.3846C>G (n.3846C>G)
c.3405C>G (n.3405C>G)
c.9928C>G (p.Gln3310Glu)
c.3193C>G (p.Gln1065Glu)
n.3344C>G
c.3088C>G (p.Gln1030Glu)
c.604C>G (p.Gln202Glu)
c.499C>G (p.Gln167Glu)
c.10108C>G (p.Gln3370Glu)
c.10042C>G (p.Gln3348Glu)
c.10105C>G (p.Gln3369Glu)
c.10102C>G (p.Gln3368Glu)
c.10048C>G (p.Gln3350Glu)
c.10018C>G (p.Gln3340Glu)
c.10003C>G (p.Gln3335Glu)
c.9973C>G (p.Gln3325Glu)
c.9568C>G (p.Gln3190Glu)
c.8926C>G (p.Gln2976Glu)
c.6436C>G (p.Gln2146Glu)
10g.71815126C>TCA377138512CDH23c.9913C>T (p.Gln3305Ter)
c.3846C>T (n.3846C>T)
c.3405C>T (n.3405C>T)
c.9928C>T (p.Gln3310Ter)
c.3193C>T (p.Gln1065Ter)
n.3344C>T
c.3088C>T (p.Gln1030Ter)
c.604C>T (p.Gln202Ter)
c.499C>T (p.Gln167Ter)
c.10108C>T (p.Gln3370Ter)
c.10042C>T (p.Gln3348Ter)
c.10105C>T (p.Gln3369Ter)
c.10102C>T (p.Gln3368Ter)
c.10048C>T (p.Gln3350Ter)
c.10018C>T (p.Gln3340Ter)
c.10003C>T (p.Gln3335Ter)
c.9973C>T (p.Gln3325Ter)
c.9568C>T (p.Gln3190Ter)
c.8926C>T (p.Gln2976Ter)
c.6436C>T (p.Gln2146Ter)
 dbSNP gnomAD v3 gnomAD v4
10g.71815127A>CCA377138516CDH23c.9914A>C (p.Gln3305Pro)
c.3847A>C (n.3847A>C)
c.3406A>C (n.3406A>C)
c.9929A>C (p.Gln3310Pro)
c.3194A>C (p.Gln1065Pro)
n.3345A>C
c.3089A>C (p.Gln1030Pro)
c.605A>C (p.Gln202Pro)
c.500A>C (p.Gln167Pro)
c.10109A>C (p.Gln3370Pro)
c.10043A>C (p.Gln3348Pro)
c.10106A>C (p.Gln3369Pro)
c.10103A>C (p.Gln3368Pro)
c.10049A>C (p.Gln3350Pro)
c.10019A>C (p.Gln3340Pro)
c.10004A>C (p.Gln3335Pro)
c.9974A>C (p.Gln3325Pro)
c.9569A>C (p.Gln3190Pro)
c.8927A>C (p.Gln2976Pro)
c.6437A>C (p.Gln2146Pro)
10g.71815127A>GCA377138518CDH23c.9914A>G (p.Gln3305Arg)
c.3847A>G (n.3847A>G)
c.3406A>G (n.3406A>G)
c.9929A>G (p.Gln3310Arg)
c.3194A>G (p.Gln1065Arg)
n.3345A>G
c.3089A>G (p.Gln1030Arg)
c.605A>G (p.Gln202Arg)
c.500A>G (p.Gln167Arg)
c.10109A>G (p.Gln3370Arg)
c.10043A>G (p.Gln3348Arg)
c.10106A>G (p.Gln3369Arg)
c.10103A>G (p.Gln3368Arg)
c.10049A>G (p.Gln3350Arg)
c.10019A>G (p.Gln3340Arg)
c.10004A>G (p.Gln3335Arg)
c.9974A>G (p.Gln3325Arg)
c.9569A>G (p.Gln3190Arg)
c.8927A>G (p.Gln2976Arg)
c.6437A>G (p.Gln2146Arg)
10g.71815127A>TCA377138520CDH23c.9914A>T (p.Gln3305Leu)
c.3847A>T (n.3847A>T)
c.3406A>T (n.3406A>T)
c.9929A>T (p.Gln3310Leu)
c.3194A>T (p.Gln1065Leu)
n.3345A>T
c.3089A>T (p.Gln1030Leu)
c.605A>T (p.Gln202Leu)
c.500A>T (p.Gln167Leu)
c.10109A>T (p.Gln3370Leu)
c.10043A>T (p.Gln3348Leu)
c.10106A>T (p.Gln3369Leu)
c.10103A>T (p.Gln3368Leu)
c.10049A>T (p.Gln3350Leu)
c.10019A>T (p.Gln3340Leu)
c.10004A>T (p.Gln3335Leu)
c.9974A>T (p.Gln3325Leu)
c.9569A>T (p.Gln3190Leu)
c.8927A>T (p.Gln2976Leu)
c.6437A>T (p.Gln2146Leu)
10g.71815127_71815133delCA2609588749CDH23c.9914_9920del (p.Gln3305ProfsTer9)
c.3847_3853del (n.3847_3853del)
c.3406_3412del (n.3406_3412del)
c.9929_9935del (p.Gln3310ProfsTer9)
c.3194_3200del (p.Gln1065ProfsTer9)
n.3345_3351del
c.3089_3095del (p.Gln1030ProfsTer9)
c.605_611del (p.Gln202ProfsTer9)
c.500_506del (p.Gln167ProfsTer9)
c.10109_10115del (p.Gln3370ProfsTer9)
c.10043_10049del (p.Gln3348ProfsTer9)
c.10106_10112del (p.Gln3369ProfsTer9)
c.10103_10109del (p.Gln3368ProfsTer9)
c.10049_10055del (p.Gln3350ProfsTer9)
c.10019_10025del (p.Gln3340ProfsTer9)
c.10004_10010del (p.Gln3335ProfsTer9)
c.9974_9980del (p.Gln3325ProfsTer9)
c.9569_9575del (p.Gln3190ProfsTer9)
c.8927_8933del (p.Gln2976ProfsTer9)
c.6437_6443del (p.Gln2146ProfsTer9)
 gnomAD v4
10g.71815128G>ACA470283297CDH23c.9915G>A (p.Gln3305=)
c.3848G>A (n.3848G>A)
c.3407G>A (n.3407G>A)
c.9930G>A (p.Gln3310=)
c.3195G>A (p.Gln1065=)
n.3346G>A
c.3090G>A (p.Gln1030=)
c.606G>A (p.Gln202=)
c.501G>A (p.Gln167=)
c.10110G>A (p.Gln3370=)
c.10044G>A (p.Gln3348=)
c.10107G>A (p.Gln3369=)
c.10104G>A (p.Gln3368=)
c.10050G>A (p.Gln3350=)
c.10020G>A (p.Gln3340=)
c.10005G>A (p.Gln3335=)
c.9975G>A (p.Gln3325=)
c.9570G>A (p.Gln3190=)
c.8928G>A (p.Gln2976=)
c.6438G>A (p.Gln2146=)
 dbSNP gnomAD v4
10g.71815128G>CCA377138522CDH23c.9915G>C (p.Gln3305His)
c.3848G>C (n.3848G>C)
c.3407G>C (n.3407G>C)
c.9930G>C (p.Gln3310His)
c.3195G>C (p.Gln1065His)
n.3346G>C
c.3090G>C (p.Gln1030His)
c.606G>C (p.Gln202His)
c.501G>C (p.Gln167His)
c.10110G>C (p.Gln3370His)
c.10044G>C (p.Gln3348His)
c.10107G>C (p.Gln3369His)
c.10104G>C (p.Gln3368His)
c.10050G>C (p.Gln3350His)
c.10020G>C (p.Gln3340His)
c.10005G>C (p.Gln3335His)
c.9975G>C (p.Gln3325His)
c.9570G>C (p.Gln3190His)
c.8928G>C (p.Gln2976His)
c.6438G>C (p.Gln2146His)
10g.71815128G=CA1918895811CDH23c.9915G= (p.Gln3305=)
c.3848G= (n.3848G=)
c.3407G= (n.3407G=)
c.9930G= (p.Gln3310=)
c.3195G= (p.Gln1065=)
n.3346G=
c.3090G= (p.Gln1030=)
c.606G= (p.Gln202=)
c.501G= (p.Gln167=)
c.10110G= (p.Gln3370=)
c.10044G= (p.Gln3348=)
c.10107G= (p.Gln3369=)
c.10104G= (p.Gln3368=)
c.10050G= (p.Gln3350=)
c.10020G= (p.Gln3340=)
c.10005G= (p.Gln3335=)
c.9975G= (p.Gln3325=)
c.9570G= (p.Gln3190=)
c.8928G= (p.Gln2976=)
c.6438G= (p.Gln2146=)
10g.71815128G>TCA377138524CDH23c.9915G>T (p.Gln3305His)
c.3848G>T (n.3848G>T)
c.3407G>T (n.3407G>T)
c.9930G>T (p.Gln3310His)
c.3195G>T (p.Gln1065His)
n.3346G>T
c.3090G>T (p.Gln1030His)
c.606G>T (p.Gln202His)
c.501G>T (p.Gln167His)
c.10110G>T (p.Gln3370His)
c.10044G>T (p.Gln3348His)
c.10107G>T (p.Gln3369His)
c.10104G>T (p.Gln3368His)
c.10050G>T (p.Gln3350His)
c.10020G>T (p.Gln3340His)
c.10005G>T (p.Gln3335His)
c.9975G>T (p.Gln3325His)
c.9570G>T (p.Gln3190His)
c.8928G>T (p.Gln2976His)
c.6438G>T (p.Gln2146His)
10g.71815128_71815129insTCA5547208CDH23c.9915_9916insT (p.Lys3306Ter)
c.3848_3849insT (n.3848_3849insT)
c.3407_3408insT (n.3407_3408insT)
c.9930_9931insT (p.Lys3311Ter)
c.3195_3196insT (p.Lys1066Ter)
n.3346_3347insT
c.3090_3091insT (p.Lys1031Ter)
c.606_607insT (p.Lys203Ter)
c.501_502insT (p.Lys168Ter)
c.10110_10111insT (p.Lys3371Ter)
c.10044_10045insT (p.Lys3349Ter)
c.10107_10108insT (p.Lys3370Ter)
c.10104_10105insT (p.Lys3369Ter)
c.10050_10051insT (p.Lys3351Ter)
c.10020_10021insT (p.Lys3341Ter)
c.10005_10006insT (p.Lys3336Ter)
c.9975_9976insT (p.Lys3326Ter)
c.9570_9571insT (p.Lys3191Ter)
c.8928_8929insT (p.Lys2977Ter)
c.6438_6439insT (p.Lys2147Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71815129A=CA1918895815CDH23c.9916A= (p.Lys3306=)
c.3849A= (n.3849A=)
c.3408A= (n.3408A=)
c.9931A= (p.Lys3311=)
c.3196A= (p.Lys1066=)
n.3347A=
c.3091A= (p.Lys1031=)
c.607A= (p.Lys203=)
c.502A= (p.Lys168=)
c.10111A= (p.Lys3371=)
c.10045A= (p.Lys3349=)
c.10108A= (p.Lys3370=)
c.10105A= (p.Lys3369=)
c.10051A= (p.Lys3351=)
c.10021A= (p.Lys3341=)
c.10006A= (p.Lys3336=)
c.9976A= (p.Lys3326=)
c.9571A= (p.Lys3191=)
c.8929A= (p.Lys2977=)
c.6439A= (p.Lys2147=)
10g.71815129A>CCA5547209CDH23c.9916A>C (p.Lys3306Gln)
c.3849A>C (n.3849A>C)
c.3408A>C (n.3408A>C)
c.9931A>C (p.Lys3311Gln)
c.3196A>C (p.Lys1066Gln)
n.3347A>C
c.3091A>C (p.Lys1031Gln)
c.607A>C (p.Lys203Gln)
c.502A>C (p.Lys168Gln)
c.10111A>C (p.Lys3371Gln)
c.10045A>C (p.Lys3349Gln)
c.10108A>C (p.Lys3370Gln)
c.10105A>C (p.Lys3369Gln)
c.10051A>C (p.Lys3351Gln)
c.10021A>C (p.Lys3341Gln)
c.10006A>C (p.Lys3336Gln)
c.9976A>C (p.Lys3326Gln)
c.9571A>C (p.Lys3191Gln)
c.8929A>C (p.Lys2977Gln)
c.6439A>C (p.Lys2147Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71815129A>GCA209447831CDH23c.9916A>G (p.Lys3306Glu)
c.3849A>G (n.3849A>G)
c.3408A>G (n.3408A>G)
c.9931A>G (p.Lys3311Glu)
c.3196A>G (p.Lys1066Glu)
n.3347A>G
c.3091A>G (p.Lys1031Glu)
c.607A>G (p.Lys203Glu)
c.502A>G (p.Lys168Glu)
c.10111A>G (p.Lys3371Glu)
c.10045A>G (p.Lys3349Glu)
c.10108A>G (p.Lys3370Glu)
c.10105A>G (p.Lys3369Glu)
c.10051A>G (p.Lys3351Glu)
c.10021A>G (p.Lys3341Glu)
c.10006A>G (p.Lys3336Glu)
c.9976A>G (p.Lys3326Glu)
c.9571A>G (p.Lys3191Glu)
c.8929A>G (p.Lys2977Glu)
c.6439A>G (p.Lys2147Glu)
 dbSNP gnomAD v4
10g.71815129A>TCA377138531CDH23c.9916A>T (p.Lys3306Ter)
c.3849A>T (n.3849A>T)
c.3408A>T (n.3408A>T)
c.9931A>T (p.Lys3311Ter)
c.3196A>T (p.Lys1066Ter)
n.3347A>T
c.3091A>T (p.Lys1031Ter)
c.607A>T (p.Lys203Ter)
c.502A>T (p.Lys168Ter)
c.10111A>T (p.Lys3371Ter)
c.10045A>T (p.Lys3349Ter)
c.10108A>T (p.Lys3370Ter)
c.10105A>T (p.Lys3369Ter)
c.10051A>T (p.Lys3351Ter)
c.10021A>T (p.Lys3341Ter)
c.10006A>T (p.Lys3336Ter)
c.9976A>T (p.Lys3326Ter)
c.9571A>T (p.Lys3191Ter)
c.8929A>T (p.Lys2977Ter)
c.6439A>T (p.Lys2147Ter)
10g.71815130A=CA1918895822CDH23c.9917A= (p.Lys3306=)
c.3850A= (n.3850A=)
c.3409A= (n.3409A=)
c.9932A= (p.Lys3311=)
c.3197A= (p.Lys1066=)
n.3348A=
c.3092A= (p.Lys1031=)
c.608A= (p.Lys203=)
c.503A= (p.Lys168=)
c.10112A= (p.Lys3371=)
c.10046A= (p.Lys3349=)
c.10109A= (p.Lys3370=)
c.10106A= (p.Lys3369=)
c.10052A= (p.Lys3351=)
c.10022A= (p.Lys3341=)
c.10007A= (p.Lys3336=)
c.9977A= (p.Lys3326=)
c.9572A= (p.Lys3191=)
c.8930A= (p.Lys2977=)
c.6440A= (p.Lys2147=)
10g.71815130A>CCA377138534CDH23c.9917A>C (p.Lys3306Thr)
c.3850A>C (n.3850A>C)
c.3409A>C (n.3409A>C)
c.9932A>C (p.Lys3311Thr)
c.3197A>C (p.Lys1066Thr)
n.3348A>C
c.3092A>C (p.Lys1031Thr)
c.608A>C (p.Lys203Thr)
c.503A>C (p.Lys168Thr)
c.10112A>C (p.Lys3371Thr)
c.10046A>C (p.Lys3349Thr)
c.10109A>C (p.Lys3370Thr)
c.10106A>C (p.Lys3369Thr)
c.10052A>C (p.Lys3351Thr)
c.10022A>C (p.Lys3341Thr)
c.10007A>C (p.Lys3336Thr)
c.9977A>C (p.Lys3326Thr)
c.9572A>C (p.Lys3191Thr)
c.8930A>C (p.Lys2977Thr)
c.6440A>C (p.Lys2147Thr)
 dbSNP
10g.71815130A>GCA377138536CDH23c.9917A>G (p.Lys3306Arg)
c.3850A>G (n.3850A>G)
c.3409A>G (n.3409A>G)
c.9932A>G (p.Lys3311Arg)
c.3197A>G (p.Lys1066Arg)
n.3348A>G
c.3092A>G (p.Lys1031Arg)
c.608A>G (p.Lys203Arg)
c.503A>G (p.Lys168Arg)
c.10112A>G (p.Lys3371Arg)
c.10046A>G (p.Lys3349Arg)
c.10109A>G (p.Lys3370Arg)
c.10106A>G (p.Lys3369Arg)
c.10052A>G (p.Lys3351Arg)
c.10022A>G (p.Lys3341Arg)
c.10007A>G (p.Lys3336Arg)
c.9977A>G (p.Lys3326Arg)
c.9572A>G (p.Lys3191Arg)
c.8930A>G (p.Lys2977Arg)
c.6440A>G (p.Lys2147Arg)
 dbSNP
10g.71815130A>TCA377138540CDH23c.9917A>T (p.Lys3306Met)
c.3850A>T (n.3850A>T)
c.3409A>T (n.3409A>T)
c.9932A>T (p.Lys3311Met)
c.3197A>T (p.Lys1066Met)
n.3348A>T
c.3092A>T (p.Lys1031Met)
c.608A>T (p.Lys203Met)
c.503A>T (p.Lys168Met)
c.10112A>T (p.Lys3371Met)
c.10046A>T (p.Lys3349Met)
c.10109A>T (p.Lys3370Met)
c.10106A>T (p.Lys3369Met)
c.10052A>T (p.Lys3351Met)
c.10022A>T (p.Lys3341Met)
c.10007A>T (p.Lys3336Met)
c.9977A>T (p.Lys3326Met)
c.9572A>T (p.Lys3191Met)
c.8930A>T (p.Lys2977Met)
c.6440A>T (p.Lys2147Met)
 dbSNP
10g.71815130_71815133dupCA2574575684CDH23c.9917_9920dup (p.Leu3308GlyfsTer?)
c.3850_3853dup (n.3850_3853dup)
c.3409_3412dup (n.3409_3412dup)
c.9932_9935dup (p.Leu3313GlyfsTer?)
c.3197_3200dup (p.Leu1068GlyfsTer?)
n.3348_3351dup
c.3092_3095dup (p.Leu1033GlyfsTer?)
c.608_611dup (p.Leu205GlyfsTer?)
c.503_506dup (p.Leu170GlyfsTer?)
c.10112_10115dup (p.Leu3373GlyfsTer?)
c.10046_10049dup (p.Leu3351GlyfsTer?)
c.10109_10112dup (p.Leu3372GlyfsTer?)
c.10106_10109dup (p.Leu3371GlyfsTer?)
c.10052_10055dup (p.Leu3353GlyfsTer?)
c.10022_10025dup (p.Leu3343GlyfsTer?)
c.10007_10010dup (p.Leu3338GlyfsTer?)
c.9977_9980dup (p.Leu3328GlyfsTer?)
c.9572_9575dup (p.Leu3193GlyfsTer?)
c.8930_8933dup (p.Leu2979GlyfsTer?)
c.6440_6443dup (p.Leu2149GlyfsTer?)
10g.71815131G>ACA5547210CDH23c.9918G>A (p.Lys3306=)
c.3851G>A (n.3851G>A)
c.3410G>A (n.3410G>A)
c.9933G>A (p.Lys3311=)
c.3198G>A (p.Lys1066=)
n.3349G>A
c.3093G>A (p.Lys1031=)
c.609G>A (p.Lys203=)
c.504G>A (p.Lys168=)
c.10113G>A (p.Lys3371=)
c.10047G>A (p.Lys3349=)
c.10110G>A (p.Lys3370=)
c.10107G>A (p.Lys3369=)
c.10053G>A (p.Lys3351=)
c.10023G>A (p.Lys3341=)
c.10008G>A (p.Lys3336=)
c.9978G>A (p.Lys3326=)
c.9573G>A (p.Lys3191=)
c.8931G>A (p.Lys2977=)
c.6441G>A (p.Lys2147=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71815131G>CCA209447841CDH23c.9918G>C (p.Lys3306Asn)
c.3851G>C (n.3851G>C)
c.3410G>C (n.3410G>C)
c.9933G>C (p.Lys3311Asn)
c.3198G>C (p.Lys1066Asn)
n.3349G>C
c.3093G>C (p.Lys1031Asn)
c.609G>C (p.Lys203Asn)
c.504G>C (p.Lys168Asn)
c.10113G>C (p.Lys3371Asn)
c.10047G>C (p.Lys3349Asn)
c.10110G>C (p.Lys3370Asn)
c.10107G>C (p.Lys3369Asn)
c.10053G>C (p.Lys3351Asn)
c.10023G>C (p.Lys3341Asn)
c.10008G>C (p.Lys3336Asn)
c.9978G>C (p.Lys3326Asn)
c.9573G>C (p.Lys3191Asn)
c.8931G>C (p.Lys2977Asn)
c.6441G>C (p.Lys2147Asn)
 dbSNP gnomAD v3 gnomAD v4
10g.71815131G=CA1918895825CDH23c.9918G= (p.Lys3306=)
c.3851G= (n.3851G=)
c.3410G= (n.3410G=)
c.9933G= (p.Lys3311=)
c.3198G= (p.Lys1066=)
n.3349G=
c.3093G= (p.Lys1031=)
c.609G= (p.Lys203=)
c.504G= (p.Lys168=)
c.10113G= (p.Lys3371=)
c.10047G= (p.Lys3349=)
c.10110G= (p.Lys3370=)
c.10107G= (p.Lys3369=)
c.10053G= (p.Lys3351=)
c.10023G= (p.Lys3341=)
c.10008G= (p.Lys3336=)
c.9978G= (p.Lys3326=)
c.9573G= (p.Lys3191=)
c.8931G= (p.Lys2977=)
c.6441G= (p.Lys2147=)
10g.71815131G>TCA377138547CDH23c.9918G>T (p.Lys3306Asn)
c.3851G>T (n.3851G>T)
c.3410G>T (n.3410G>T)
c.9933G>T (p.Lys3311Asn)
c.3198G>T (p.Lys1066Asn)
n.3349G>T
c.3093G>T (p.Lys1031Asn)
c.609G>T (p.Lys203Asn)
c.504G>T (p.Lys168Asn)
c.10113G>T (p.Lys3371Asn)
c.10047G>T (p.Lys3349Asn)
c.10110G>T (p.Lys3370Asn)
c.10107G>T (p.Lys3369Asn)
c.10053G>T (p.Lys3351Asn)
c.10023G>T (p.Lys3341Asn)
c.10008G>T (p.Lys3336Asn)
c.9978G>T (p.Lys3326Asn)
c.9573G>T (p.Lys3191Asn)
c.8931G>T (p.Lys2977Asn)
c.6441G>T (p.Lys2147Asn)
10g.71815132G>ACA377138555CDH23c.9919G>A (p.Gly3307Ser)
c.3852G>A (n.3852G>A)
c.3411G>A (n.3411G>A)
c.9934G>A (p.Gly3312Ser)
c.3199G>A (p.Gly1067Ser)
n.3350G>A
c.3094G>A (p.Gly1032Ser)
c.610G>A (p.Gly204Ser)
c.505G>A (p.Gly169Ser)
c.10114G>A (p.Gly3372Ser)
c.10048G>A (p.Gly3350Ser)
c.10111G>A (p.Gly3371Ser)
c.10108G>A (p.Gly3370Ser)
c.10054G>A (p.Gly3352Ser)
c.10024G>A (p.Gly3342Ser)
c.10009G>A (p.Gly3337Ser)
c.9979G>A (p.Gly3327Ser)
c.9574G>A (p.Gly3192Ser)
c.8932G>A (p.Gly2978Ser)
c.6442G>A (p.Gly2148Ser)
10g.71815132G>CCA377138563CDH23c.9919G>C (p.Gly3307Arg)
c.3852G>C (n.3852G>C)
c.3411G>C (n.3411G>C)
c.9934G>C (p.Gly3312Arg)
c.3199G>C (p.Gly1067Arg)
n.3350G>C
c.3094G>C (p.Gly1032Arg)
c.610G>C (p.Gly204Arg)
c.505G>C (p.Gly169Arg)
c.10114G>C (p.Gly3372Arg)
c.10048G>C (p.Gly3350Arg)
c.10111G>C (p.Gly3371Arg)
c.10108G>C (p.Gly3370Arg)
c.10054G>C (p.Gly3352Arg)
c.10024G>C (p.Gly3342Arg)
c.10009G>C (p.Gly3337Arg)
c.9979G>C (p.Gly3327Arg)
c.9574G>C (p.Gly3192Arg)
c.8932G>C (p.Gly2978Arg)
c.6442G>C (p.Gly2148Arg)
10g.71815132G>TCA377138552CDH23c.9919G>T (p.Gly3307Cys)
c.3852G>T (n.3852G>T)
c.3411G>T (n.3411G>T)
c.9934G>T (p.Gly3312Cys)
c.3199G>T (p.Gly1067Cys)
n.3350G>T
c.3094G>T (p.Gly1032Cys)
c.610G>T (p.Gly204Cys)
c.505G>T (p.Gly169Cys)
c.10114G>T (p.Gly3372Cys)
c.10048G>T (p.Gly3350Cys)
c.10111G>T (p.Gly3371Cys)
c.10108G>T (p.Gly3370Cys)
c.10054G>T (p.Gly3352Cys)
c.10024G>T (p.Gly3342Cys)
c.10009G>T (p.Gly3337Cys)
c.9979G>T (p.Gly3327Cys)
c.9574G>T (p.Gly3192Cys)
c.8932G>T (p.Gly2978Cys)
c.6442G>T (p.Gly2148Cys)
10g.71815133G>ACA377138564CDH23c.9920G>A (p.Gly3307Asp)
c.3853G>A (n.3853G>A)
c.3412G>A (n.3412G>A)
c.9935G>A (p.Gly3312Asp)
c.3200G>A (p.Gly1067Asp)
n.3351G>A
c.3095G>A (p.Gly1032Asp)
c.611G>A (p.Gly204Asp)
c.506G>A (p.Gly169Asp)
c.10115G>A (p.Gly3372Asp)
c.10049G>A (p.Gly3350Asp)
c.10112G>A (p.Gly3371Asp)
c.10109G>A (p.Gly3370Asp)
c.10055G>A (p.Gly3352Asp)
c.10025G>A (p.Gly3342Asp)
c.10010G>A (p.Gly3337Asp)
c.9980G>A (p.Gly3327Asp)
c.9575G>A (p.Gly3192Asp)
c.8933G>A (p.Gly2978Asp)
c.6443G>A (p.Gly2148Asp)
10g.71815133G>CCA377138565CDH23c.9920G>C (p.Gly3307Ala)
c.3853G>C (n.3853G>C)
c.3412G>C (n.3412G>C)
c.9935G>C (p.Gly3312Ala)
c.3200G>C (p.Gly1067Ala)
n.3351G>C
c.3095G>C (p.Gly1032Ala)
c.611G>C (p.Gly204Ala)
c.506G>C (p.Gly169Ala)
c.10115G>C (p.Gly3372Ala)
c.10049G>C (p.Gly3350Ala)
c.10112G>C (p.Gly3371Ala)
c.10109G>C (p.Gly3370Ala)
c.10055G>C (p.Gly3352Ala)
c.10025G>C (p.Gly3342Ala)
c.10010G>C (p.Gly3337Ala)
c.9980G>C (p.Gly3327Ala)
c.9575G>C (p.Gly3192Ala)
c.8933G>C (p.Gly2978Ala)
c.6443G>C (p.Gly2148Ala)
10g.71815133G=CA1918895829CDH23c.9920G= (p.Gly3307=)
c.3853G= (n.3853G=)
c.3412G= (n.3412G=)
c.9935G= (p.Gly3312=)
c.3200G= (p.Gly1067=)
n.3351G=
c.3095G= (p.Gly1032=)
c.611G= (p.Gly204=)
c.506G= (p.Gly169=)
c.10115G= (p.Gly3372=)
c.10049G= (p.Gly3350=)
c.10112G= (p.Gly3371=)
c.10109G= (p.Gly3370=)
c.10055G= (p.Gly3352=)
c.10025G= (p.Gly3342=)
c.10010G= (p.Gly3337=)
c.9980G= (p.Gly3327=)
c.9575G= (p.Gly3192=)
c.8933G= (p.Gly2978=)
c.6443G= (p.Gly2148=)
10g.71815133G>TCA377138566CDH23c.9920G>T (p.Gly3307Val)
c.3853G>T (n.3853G>T)
c.3412G>T (n.3412G>T)
c.9935G>T (p.Gly3312Val)
c.3200G>T (p.Gly1067Val)
n.3351G>T
c.3095G>T (p.Gly1032Val)
c.611G>T (p.Gly204Val)
c.506G>T (p.Gly169Val)
c.10115G>T (p.Gly3372Val)
c.10049G>T (p.Gly3350Val)
c.10112G>T (p.Gly3371Val)
c.10109G>T (p.Gly3370Val)
c.10055G>T (p.Gly3352Val)
c.10025G>T (p.Gly3342Val)
c.10010G>T (p.Gly3337Val)
c.9980G>T (p.Gly3327Val)
c.9575G>T (p.Gly3192Val)
c.8933G>T (p.Gly2978Val)
c.6443G>T (p.Gly2148Val)
 dbSNP gnomAD v2 gnomAD v4
10g.71815133_71815134delinsGCCA1918895831CDH23c.9920_9921delinsGC (p.Gly3307=)
c.3853_3854delinsGC (n.3853_3854delinsGC)
c.3412_3413delinsGC (n.3412_3413delinsGC)
c.9935_9936delinsGC (p.Gly3312=)
c.3200_3201delinsGC (p.Gly1067=)
n.3351_3352delinsGC
c.3095_3096delinsGC (p.Gly1032=)
c.611_612delinsGC (p.Gly204=)
c.506_507delinsGC (p.Gly169=)
c.10115_10116delinsGC (p.Gly3372=)
c.10049_10050delinsGC (p.Gly3350=)
c.10112_10113delinsGC (p.Gly3371=)
c.10109_10110delinsGC (p.Gly3370=)
c.10055_10056delinsGC (p.Gly3352=)
c.10025_10026delinsGC (p.Gly3342=)
c.10010_10011delinsGC (p.Gly3337=)
c.9980_9981delinsGC (p.Gly3327=)
c.9575_9576delinsGC (p.Gly3192=)
c.8933_8934delinsGC (p.Gly2978=)
c.6443_6444delinsGC (p.Gly2148=)
10g.71815134C>ACA470283298CDH23c.9921C>A (p.Gly3307=)
c.3854C>A (n.3854C>A)
c.3413C>A (n.3413C>A)
c.9936C>A (p.Gly3312=)
c.3201C>A (p.Gly1067=)
n.3352C>A
c.3096C>A (p.Gly1032=)
c.612C>A (p.Gly204=)
c.507C>A (p.Gly169=)
c.10116C>A (p.Gly3372=)
c.10050C>A (p.Gly3350=)
c.10113C>A (p.Gly3371=)
c.10110C>A (p.Gly3370=)
c.10056C>A (p.Gly3352=)
c.10026C>A (p.Gly3342=)
c.10011C>A (p.Gly3337=)
c.9981C>A (p.Gly3327=)
c.9576C>A (p.Gly3192=)
c.8934C>A (p.Gly2978=)
c.6444C>A (p.Gly2148=)
10g.71815134C=CA1918895834CDH23c.9921C= (p.Gly3307=)
c.3854C= (n.3854C=)
c.3413C= (n.3413C=)
c.9936C= (p.Gly3312=)
c.3201C= (p.Gly1067=)
n.3352C=
c.3096C= (p.Gly1032=)
c.612C= (p.Gly204=)
c.507C= (p.Gly169=)
c.10116C= (p.Gly3372=)
c.10050C= (p.Gly3350=)
c.10113C= (p.Gly3371=)
c.10110C= (p.Gly3370=)
c.10056C= (p.Gly3352=)
c.10026C= (p.Gly3342=)
c.10011C= (p.Gly3337=)
c.9981C= (p.Gly3327=)
c.9576C= (p.Gly3192=)
c.8934C= (p.Gly2978=)
c.6444C= (p.Gly2148=)
10g.71815134C>GCA470283299CDH23c.9921C>G (p.Gly3307=)
c.3854C>G (n.3854C>G)
c.3413C>G (n.3413C>G)
c.9936C>G (p.Gly3312=)
c.3201C>G (p.Gly1067=)
n.3352C>G
c.3096C>G (p.Gly1032=)
c.612C>G (p.Gly204=)
c.507C>G (p.Gly169=)
c.10116C>G (p.Gly3372=)
c.10050C>G (p.Gly3350=)
c.10113C>G (p.Gly3371=)
c.10110C>G (p.Gly3370=)
c.10056C>G (p.Gly3352=)
c.10026C>G (p.Gly3342=)
c.10011C>G (p.Gly3337=)
c.9981C>G (p.Gly3327=)
c.9576C>G (p.Gly3192=)
c.8934C>G (p.Gly2978=)
c.6444C>G (p.Gly2148=)
10g.71815134C>TCA5547211CDH23c.9921C>T (p.Gly3307=)
c.3854C>T (n.3854C>T)
c.3413C>T (n.3413C>T)
c.9936C>T (p.Gly3312=)
c.3201C>T (p.Gly1067=)
n.3352C>T
c.3096C>T (p.Gly1032=)
c.612C>T (p.Gly204=)
c.507C>T (p.Gly169=)
c.10116C>T (p.Gly3372=)
c.10050C>T (p.Gly3350=)
c.10113C>T (p.Gly3371=)
c.10110C>T (p.Gly3370=)
c.10056C>T (p.Gly3352=)
c.10026C>T (p.Gly3342=)
c.10011C>T (p.Gly3337=)
c.9981C>T (p.Gly3327=)
c.9576C>T (p.Gly3192=)
c.8934C>T (p.Gly2978=)
c.6444C>T (p.Gly2148=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815135delCA209447846CDH23c.9922del (p.Leu3308TrpfsTer8)
c.3855del (n.3855del)
c.3414del (n.3414del)
c.9937del (p.Leu3313TrpfsTer8)
c.3202del (p.Leu1068TrpfsTer8)
n.3353del
c.3097del (p.Leu1033TrpfsTer8)
c.613del (p.Leu205TrpfsTer8)
c.508del (p.Leu170TrpfsTer8)
c.10117del (p.Leu3373TrpfsTer8)
c.10051del (p.Leu3351TrpfsTer8)
c.10114del (p.Leu3372TrpfsTer8)
c.10111del (p.Leu3371TrpfsTer8)
c.10057del (p.Leu3353TrpfsTer8)
c.10027del (p.Leu3343TrpfsTer8)
c.10012del (p.Leu3338TrpfsTer8)
c.9982del (p.Leu3328TrpfsTer8)
c.9577del (p.Leu3193TrpfsTer8)
c.8935del (p.Leu2979TrpfsTer8)
c.6445del (p.Leu2149TrpfsTer8)
 dbSNP
10g.71815135C>ACA377138567CDH23c.9922C>A (p.Leu3308Met)
c.3855C>A (n.3855C>A)
c.3414C>A (n.3414C>A)
c.9937C>A (p.Leu3313Met)
c.3202C>A (p.Leu1068Met)
n.3353C>A
c.3097C>A (p.Leu1033Met)
c.613C>A (p.Leu205Met)
c.508C>A (p.Leu170Met)
c.10117C>A (p.Leu3373Met)
c.10051C>A (p.Leu3351Met)
c.10114C>A (p.Leu3372Met)
c.10111C>A (p.Leu3371Met)
c.10057C>A (p.Leu3353Met)
c.10027C>A (p.Leu3343Met)
c.10012C>A (p.Leu3338Met)
c.9982C>A (p.Leu3328Met)
c.9577C>A (p.Leu3193Met)
c.8935C>A (p.Leu2979Met)
c.6445C>A (p.Leu2149Met)
10g.71815135C>GCA377138568CDH23c.9922C>G (p.Leu3308Val)
c.3855C>G (n.3855C>G)
c.3414C>G (n.3414C>G)
c.9937C>G (p.Leu3313Val)
c.3202C>G (p.Leu1068Val)
n.3353C>G
c.3097C>G (p.Leu1033Val)
c.613C>G (p.Leu205Val)
c.508C>G (p.Leu170Val)
c.10117C>G (p.Leu3373Val)
c.10051C>G (p.Leu3351Val)
c.10114C>G (p.Leu3372Val)
c.10111C>G (p.Leu3371Val)
c.10057C>G (p.Leu3353Val)
c.10027C>G (p.Leu3343Val)
c.10012C>G (p.Leu3338Val)
c.9982C>G (p.Leu3328Val)
c.9577C>G (p.Leu3193Val)
c.8935C>G (p.Leu2979Val)
c.6445C>G (p.Leu2149Val)
10g.71815135C>TCA470283300CDH23c.9922C>T (p.Leu3308=)
c.3855C>T (n.3855C>T)
c.3414C>T (n.3414C>T)
c.9937C>T (p.Leu3313=)
c.3202C>T (p.Leu1068=)
n.3353C>T
c.3097C>T (p.Leu1033=)
c.613C>T (p.Leu205=)
c.508C>T (p.Leu170=)
c.10117C>T (p.Leu3373=)
c.10051C>T (p.Leu3351=)
c.10114C>T (p.Leu3372=)
c.10111C>T (p.Leu3371=)
c.10057C>T (p.Leu3353=)
c.10027C>T (p.Leu3343=)
c.10012C>T (p.Leu3338=)
c.9982C>T (p.Leu3328=)
c.9577C>T (p.Leu3193=)
c.8935C>T (p.Leu2979=)
c.6445C>T (p.Leu2149=)
10g.71815135_71815136delinsCTCA1918895838CDH23c.9922_9923delinsCT (p.Leu3308=)
c.3855_3856delinsCT (n.3855_3856delinsCT)
c.3414_3415delinsCT (n.3414_3415delinsCT)
c.9937_9938delinsCT (p.Leu3313=)
c.3202_3203delinsCT (p.Leu1068=)
n.3353_3354delinsCT
c.3097_3098delinsCT (p.Leu1033=)
c.613_614delinsCT (p.Leu205=)
c.508_509delinsCT (p.Leu170=)
c.10117_10118delinsCT (p.Leu3373=)
c.10051_10052delinsCT (p.Leu3351=)
c.10114_10115delinsCT (p.Leu3372=)
c.10111_10112delinsCT (p.Leu3371=)
c.10057_10058delinsCT (p.Leu3353=)
c.10027_10028delinsCT (p.Leu3343=)
c.10012_10013delinsCT (p.Leu3338=)
c.9982_9983delinsCT (p.Leu3328=)
c.9577_9578delinsCT (p.Leu3193=)
c.8935_8936delinsCT (p.Leu2979=)
c.6445_6446delinsCT (p.Leu2149=)
10g.71815136delCA668127992CDH23c.9923del (p.Leu3308ArgfsTer8)
c.3856del (n.3856del)
c.3415del (n.3415del)
c.9938del (p.Leu3313ArgfsTer8)
c.3203del (p.Leu1068ArgfsTer8)
n.3354del
c.3098del (p.Leu1033ArgfsTer8)
c.614del (p.Leu205ArgfsTer8)
c.509del (p.Leu170ArgfsTer8)
c.10118del (p.Leu3373ArgfsTer8)
c.10052del (p.Leu3351ArgfsTer8)
c.10115del (p.Leu3372ArgfsTer8)
c.10112del (p.Leu3371ArgfsTer8)
c.10058del (p.Leu3353ArgfsTer8)
c.10028del (p.Leu3343ArgfsTer8)
c.10013del (p.Leu3338ArgfsTer8)
c.9983del (p.Leu3328ArgfsTer8)
c.9578del (p.Leu3193ArgfsTer8)
c.8936del (p.Leu2979ArgfsTer8)
c.6446del (p.Leu2149ArgfsTer8)
 dbSNP
10g.71815136T>ACA377138569CDH23c.9923T>A (p.Leu3308Gln)
c.3856T>A (n.3856T>A)
c.3415T>A (n.3415T>A)
c.9938T>A (p.Leu3313Gln)
c.3203T>A (p.Leu1068Gln)
n.3354T>A
c.3098T>A (p.Leu1033Gln)
c.614T>A (p.Leu205Gln)
c.509T>A (p.Leu170Gln)
c.10118T>A (p.Leu3373Gln)
c.10052T>A (p.Leu3351Gln)
c.10115T>A (p.Leu3372Gln)
c.10112T>A (p.Leu3371Gln)
c.10058T>A (p.Leu3353Gln)
c.10028T>A (p.Leu3343Gln)
c.10013T>A (p.Leu3338Gln)
c.9983T>A (p.Leu3328Gln)
c.9578T>A (p.Leu3193Gln)
c.8936T>A (p.Leu2979Gln)
c.6446T>A (p.Leu2149Gln)
10g.71815136T>CCA377138570CDH23c.9923T>C (p.Leu3308Pro)
c.3856T>C (n.3856T>C)
c.3415T>C (n.3415T>C)
c.9938T>C (p.Leu3313Pro)
c.3203T>C (p.Leu1068Pro)
n.3354T>C
c.3098T>C (p.Leu1033Pro)
c.614T>C (p.Leu205Pro)
c.509T>C (p.Leu170Pro)
c.10118T>C (p.Leu3373Pro)
c.10052T>C (p.Leu3351Pro)
c.10115T>C (p.Leu3372Pro)
c.10112T>C (p.Leu3371Pro)
c.10058T>C (p.Leu3353Pro)
c.10028T>C (p.Leu3343Pro)
c.10013T>C (p.Leu3338Pro)
c.9983T>C (p.Leu3328Pro)
c.9578T>C (p.Leu3193Pro)
c.8936T>C (p.Leu2979Pro)
c.6446T>C (p.Leu2149Pro)
10g.71815136T>GCA377138571CDH23c.9923T>G (p.Leu3308Arg)
c.3856T>G (n.3856T>G)
c.3415T>G (n.3415T>G)
c.9938T>G (p.Leu3313Arg)
c.3203T>G (p.Leu1068Arg)
n.3354T>G
c.3098T>G (p.Leu1033Arg)
c.614T>G (p.Leu205Arg)
c.509T>G (p.Leu170Arg)
c.10118T>G (p.Leu3373Arg)
c.10052T>G (p.Leu3351Arg)
c.10115T>G (p.Leu3372Arg)
c.10112T>G (p.Leu3371Arg)
c.10058T>G (p.Leu3353Arg)
c.10028T>G (p.Leu3343Arg)
c.10013T>G (p.Leu3338Arg)
c.9983T>G (p.Leu3328Arg)
c.9578T>G (p.Leu3193Arg)
c.8936T>G (p.Leu2979Arg)
c.6446T>G (p.Leu2149Arg)
10g.71815137G>ACA5547212CDH23c.9924G>A (p.Leu3308=)
c.3857G>A (n.3857G>A)
c.3416G>A (n.3416G>A)
c.9939G>A (p.Leu3313=)
c.3204G>A (p.Leu1068=)
n.3355G>A
c.3099G>A (p.Leu1033=)
c.615G>A (p.Leu205=)
c.510G>A (p.Leu170=)
c.10119G>A (p.Leu3373=)
c.10053G>A (p.Leu3351=)
c.10116G>A (p.Leu3372=)
c.10113G>A (p.Leu3371=)
c.10059G>A (p.Leu3353=)
c.10029G>A (p.Leu3343=)
c.10014G>A (p.Leu3338=)
c.9984G>A (p.Leu3328=)
c.9579G>A (p.Leu3193=)
c.8937G>A (p.Leu2979=)
c.6447G>A (p.Leu2149=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815137G>CCA470283302CDH23c.9924G>C (p.Leu3308=)
c.3857G>C (n.3857G>C)
c.3416G>C (n.3416G>C)
c.9939G>C (p.Leu3313=)
c.3204G>C (p.Leu1068=)
n.3355G>C
c.3099G>C (p.Leu1033=)
c.615G>C (p.Leu205=)
c.510G>C (p.Leu170=)
c.10119G>C (p.Leu3373=)
c.10053G>C (p.Leu3351=)
c.10116G>C (p.Leu3372=)
c.10113G>C (p.Leu3371=)
c.10059G>C (p.Leu3353=)
c.10029G>C (p.Leu3343=)
c.10014G>C (p.Leu3338=)
c.9984G>C (p.Leu3328=)
c.9579G>C (p.Leu3193=)
c.8937G>C (p.Leu2979=)
c.6447G>C (p.Leu2149=)
10g.71815137G=CA1918895842CDH23c.9924G= (p.Leu3308=)
c.3857G= (n.3857G=)
c.3416G= (n.3416G=)
c.9939G= (p.Leu3313=)
c.3204G= (p.Leu1068=)
n.3355G=
c.3099G= (p.Leu1033=)
c.615G= (p.Leu205=)
c.510G= (p.Leu170=)
c.10119G= (p.Leu3373=)
c.10053G= (p.Leu3351=)
c.10116G= (p.Leu3372=)
c.10113G= (p.Leu3371=)
c.10059G= (p.Leu3353=)
c.10029G= (p.Leu3343=)
c.10014G= (p.Leu3338=)
c.9984G= (p.Leu3328=)
c.9579G= (p.Leu3193=)
c.8937G= (p.Leu2979=)
c.6447G= (p.Leu2149=)
10g.71815137G>TCA470283303CDH23c.9924G>T (p.Leu3308=)
c.3857G>T (n.3857G>T)
c.3416G>T (n.3416G>T)
c.9939G>T (p.Leu3313=)
c.3204G>T (p.Leu1068=)
n.3355G>T
c.3099G>T (p.Leu1033=)
c.615G>T (p.Leu205=)
c.510G>T (p.Leu170=)
c.10119G>T (p.Leu3373=)
c.10053G>T (p.Leu3351=)
c.10116G>T (p.Leu3372=)
c.10113G>T (p.Leu3371=)
c.10059G>T (p.Leu3353=)
c.10029G>T (p.Leu3343=)
c.10014G>T (p.Leu3338=)
c.9984G>T (p.Leu3328=)
c.9579G>T (p.Leu3193=)
c.8937G>T (p.Leu2979=)
c.6447G>T (p.Leu2149=)
10g.71815138G>ACA377138575CDH23c.9925G>A (p.Gly3309Ser)
c.3858G>A (n.3858G>A)
c.3417G>A (n.3417G>A)
c.9940G>A (p.Gly3314Ser)
c.3205G>A (p.Gly1069Ser)
n.3356G>A
c.3100G>A (p.Gly1034Ser)
c.616G>A (p.Gly206Ser)
c.511G>A (p.Gly171Ser)
c.10120G>A (p.Gly3374Ser)
c.10054G>A (p.Gly3352Ser)
c.10117G>A (p.Gly3373Ser)
c.10114G>A (p.Gly3372Ser)
c.10060G>A (p.Gly3354Ser)
c.10030G>A (p.Gly3344Ser)
c.10015G>A (p.Gly3339Ser)
c.9985G>A (p.Gly3329Ser)
c.9580G>A (p.Gly3194Ser)
c.8938G>A (p.Gly2980Ser)
c.6448G>A (p.Gly2150Ser)
10g.71815138G>CCA377138573CDH23c.9925G>C (p.Gly3309Arg)
c.3858G>C (n.3858G>C)
c.3417G>C (n.3417G>C)
c.9940G>C (p.Gly3314Arg)
c.3205G>C (p.Gly1069Arg)
n.3356G>C
c.3100G>C (p.Gly1034Arg)
c.616G>C (p.Gly206Arg)
c.511G>C (p.Gly171Arg)
c.10120G>C (p.Gly3374Arg)
c.10054G>C (p.Gly3352Arg)
c.10117G>C (p.Gly3373Arg)
c.10114G>C (p.Gly3372Arg)
c.10060G>C (p.Gly3354Arg)
c.10030G>C (p.Gly3344Arg)
c.10015G>C (p.Gly3339Arg)
c.9985G>C (p.Gly3329Arg)
c.9580G>C (p.Gly3194Arg)
c.8938G>C (p.Gly2980Arg)
c.6448G>C (p.Gly2150Arg)
10g.71815138G>TCA377138572CDH23c.9925G>T (p.Gly3309Cys)
c.3858G>T (n.3858G>T)
c.3417G>T (n.3417G>T)
c.9940G>T (p.Gly3314Cys)
c.3205G>T (p.Gly1069Cys)
n.3356G>T
c.3100G>T (p.Gly1034Cys)
c.616G>T (p.Gly206Cys)
c.511G>T (p.Gly171Cys)
c.10120G>T (p.Gly3374Cys)
c.10054G>T (p.Gly3352Cys)
c.10117G>T (p.Gly3373Cys)
c.10114G>T (p.Gly3372Cys)
c.10060G>T (p.Gly3354Cys)
c.10030G>T (p.Gly3344Cys)
c.10015G>T (p.Gly3339Cys)
c.9985G>T (p.Gly3329Cys)
c.9580G>T (p.Gly3194Cys)
c.8938G>T (p.Gly2980Cys)
c.6448G>T (p.Gly2150Cys)
10g.71815139G>ACA5547213CDH23c.9926G>A (p.Gly3309Asp)
c.3859G>A (n.3859G>A)
c.3418G>A (n.3418G>A)
c.9941G>A (p.Gly3314Asp)
c.3206G>A (p.Gly1069Asp)
n.3357G>A
c.3101G>A (p.Gly1034Asp)
c.617G>A (p.Gly206Asp)
c.512G>A (p.Gly171Asp)
c.10121G>A (p.Gly3374Asp)
c.10055G>A (p.Gly3352Asp)
c.10118G>A (p.Gly3373Asp)
c.10115G>A (p.Gly3372Asp)
c.10061G>A (p.Gly3354Asp)
c.10031G>A (p.Gly3344Asp)
c.10016G>A (p.Gly3339Asp)
c.9986G>A (p.Gly3329Asp)
c.9581G>A (p.Gly3194Asp)
c.8939G>A (p.Gly2980Asp)
c.6449G>A (p.Gly2150Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71815139G>CCA377138580CDH23c.9926G>C (p.Gly3309Ala)
c.3859G>C (n.3859G>C)
c.3418G>C (n.3418G>C)
c.9941G>C (p.Gly3314Ala)
c.3206G>C (p.Gly1069Ala)
n.3357G>C
c.3101G>C (p.Gly1034Ala)
c.617G>C (p.Gly206Ala)
c.512G>C (p.Gly171Ala)
c.10121G>C (p.Gly3374Ala)
c.10055G>C (p.Gly3352Ala)
c.10118G>C (p.Gly3373Ala)
c.10115G>C (p.Gly3372Ala)
c.10061G>C (p.Gly3354Ala)
c.10031G>C (p.Gly3344Ala)
c.10016G>C (p.Gly3339Ala)
c.9986G>C (p.Gly3329Ala)
c.9581G>C (p.Gly3194Ala)
c.8939G>C (p.Gly2980Ala)
c.6449G>C (p.Gly2150Ala)
10g.71815139G=CA1918895845CDH23c.9926G= (p.Gly3309=)
c.3859G= (n.3859G=)
c.3418G= (n.3418G=)
c.9941G= (p.Gly3314=)
c.3206G= (p.Gly1069=)
n.3357G=
c.3101G= (p.Gly1034=)
c.617G= (p.Gly206=)
c.512G= (p.Gly171=)
c.10121G= (p.Gly3374=)
c.10055G= (p.Gly3352=)
c.10118G= (p.Gly3373=)
c.10115G= (p.Gly3372=)
c.10061G= (p.Gly3354=)
c.10031G= (p.Gly3344=)
c.10016G= (p.Gly3339=)
c.9986G= (p.Gly3329=)
c.9581G= (p.Gly3194=)
c.8939G= (p.Gly2980=)
c.6449G= (p.Gly2150=)
10g.71815139G>TCA377138583CDH23c.9926G>T (p.Gly3309Val)
c.3859G>T (n.3859G>T)
c.3418G>T (n.3418G>T)
c.9941G>T (p.Gly3314Val)
c.3206G>T (p.Gly1069Val)
n.3357G>T
c.3101G>T (p.Gly1034Val)
c.617G>T (p.Gly206Val)
c.512G>T (p.Gly171Val)
c.10121G>T (p.Gly3374Val)
c.10055G>T (p.Gly3352Val)
c.10118G>T (p.Gly3373Val)
c.10115G>T (p.Gly3372Val)
c.10061G>T (p.Gly3354Val)
c.10031G>T (p.Gly3344Val)
c.10016G>T (p.Gly3339Val)
c.9986G>T (p.Gly3329Val)
c.9581G>T (p.Gly3194Val)
c.8939G>T (p.Gly2980Val)
c.6449G>T (p.Gly2150Val)
10g.71815140C>ACA470283305CDH23c.9927C>A (p.Gly3309=)
c.3860C>A (n.3860C>A)
c.3419C>A (n.3419C>A)
c.9942C>A (p.Gly3314=)
c.3207C>A (p.Gly1069=)
n.3358C>A
c.3102C>A (p.Gly1034=)
c.618C>A (p.Gly206=)
c.513C>A (p.Gly171=)
c.10122C>A (p.Gly3374=)
c.10056C>A (p.Gly3352=)
c.10119C>A (p.Gly3373=)
c.10116C>A (p.Gly3372=)
c.10062C>A (p.Gly3354=)
c.10032C>A (p.Gly3344=)
c.10017C>A (p.Gly3339=)
c.9987C>A (p.Gly3329=)
c.9582C>A (p.Gly3194=)
c.8940C>A (p.Gly2980=)
c.6450C>A (p.Gly2150=)
 ClinVar dbSNP
10g.71815140C=CA1918895848CDH23c.9927C= (p.Gly3309=)
c.3860C= (n.3860C=)
c.3419C= (n.3419C=)
c.9942C= (p.Gly3314=)
c.3207C= (p.Gly1069=)
n.3358C=
c.3102C= (p.Gly1034=)
c.618C= (p.Gly206=)
c.513C= (p.Gly171=)
c.10122C= (p.Gly3374=)
c.10056C= (p.Gly3352=)
c.10119C= (p.Gly3373=)
c.10116C= (p.Gly3372=)
c.10062C= (p.Gly3354=)
c.10032C= (p.Gly3344=)
c.10017C= (p.Gly3339=)
c.9987C= (p.Gly3329=)
c.9582C= (p.Gly3194=)
c.8940C= (p.Gly2980=)
c.6450C= (p.Gly2150=)
10g.71815140C>GCA470283306CDH23c.9927C>G (p.Gly3309=)
c.3860C>G (n.3860C>G)
c.3419C>G (n.3419C>G)
c.9942C>G (p.Gly3314=)
c.3207C>G (p.Gly1069=)
n.3358C>G
c.3102C>G (p.Gly1034=)
c.618C>G (p.Gly206=)
c.513C>G (p.Gly171=)
c.10122C>G (p.Gly3374=)
c.10056C>G (p.Gly3352=)
c.10119C>G (p.Gly3373=)
c.10116C>G (p.Gly3372=)
c.10062C>G (p.Gly3354=)
c.10032C>G (p.Gly3344=)
c.10017C>G (p.Gly3339=)
c.9987C>G (p.Gly3329=)
c.9582C>G (p.Gly3194=)
c.8940C>G (p.Gly2980=)
c.6450C>G (p.Gly2150=)
 dbSNP
10g.71815140C>TCA5547214CDH23c.9927C>T (p.Gly3309=)
c.3860C>T (n.3860C>T)
c.3419C>T (n.3419C>T)
c.9942C>T (p.Gly3314=)
c.3207C>T (p.Gly1069=)
n.3358C>T
c.3102C>T (p.Gly1034=)
c.618C>T (p.Gly206=)
c.513C>T (p.Gly171=)
c.10122C>T (p.Gly3374=)
c.10056C>T (p.Gly3352=)
c.10119C>T (p.Gly3373=)
c.10116C>T (p.Gly3372=)
c.10062C>T (p.Gly3354=)
c.10032C>T (p.Gly3344=)
c.10017C>T (p.Gly3339=)
c.9987C>T (p.Gly3329=)
c.9582C>T (p.Gly3194=)
c.8940C>T (p.Gly2980=)
c.6450C>T (p.Gly2150=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71815141C>ACA377138593CDH23c.9928C>A (p.Arg3310Ser)
c.3861C>A (n.3861C>A)
c.3420C>A (n.3420C>A)
c.9943C>A (p.Arg3315Ser)
c.3208C>A (p.Arg1070Ser)
n.3359C>A
c.3103C>A (p.Arg1035Ser)
c.619C>A (p.Arg207Ser)
c.514C>A (p.Arg172Ser)
c.10123C>A (p.Arg3375Ser)
c.10057C>A (p.Arg3353Ser)
c.10120C>A (p.Arg3374Ser)
c.10117C>A (p.Arg3373Ser)
c.10063C>A (p.Arg3355Ser)
c.10033C>A (p.Arg3345Ser)
c.10018C>A (p.Arg3340Ser)
c.9988C>A (p.Arg3330Ser)
c.9583C>A (p.Arg3195Ser)
c.8941C>A (p.Arg2981Ser)
c.6451C>A (p.Arg2151Ser)
10g.71815141C=CA1918895853CDH23c.9928C= (p.Arg3310=)
c.3861C= (n.3861C=)
c.3420C= (n.3420C=)
c.9943C= (p.Arg3315=)
c.3208C= (p.Arg1070=)
n.3359C=
c.3103C= (p.Arg1035=)
c.619C= (p.Arg207=)
c.514C= (p.Arg172=)
c.10123C= (p.Arg3375=)
c.10057C= (p.Arg3353=)
c.10120C= (p.Arg3374=)
c.10117C= (p.Arg3373=)
c.10063C= (p.Arg3355=)
c.10033C= (p.Arg3345=)
c.10018C= (p.Arg3340=)
c.9988C= (p.Arg3330=)
c.9583C= (p.Arg3195=)
c.8941C= (p.Arg2981=)
c.6451C= (p.Arg2151=)
10g.71815141C>GCA377138596CDH23c.9928C>G (p.Arg3310Gly)
c.3861C>G (n.3861C>G)
c.3420C>G (n.3420C>G)
c.9943C>G (p.Arg3315Gly)
c.3208C>G (p.Arg1070Gly)
n.3359C>G
c.3103C>G (p.Arg1035Gly)
c.619C>G (p.Arg207Gly)
c.514C>G (p.Arg172Gly)
c.10123C>G (p.Arg3375Gly)
c.10057C>G (p.Arg3353Gly)
c.10120C>G (p.Arg3374Gly)
c.10117C>G (p.Arg3373Gly)
c.10063C>G (p.Arg3355Gly)
c.10033C>G (p.Arg3345Gly)
c.10018C>G (p.Arg3340Gly)
c.9988C>G (p.Arg3330Gly)
c.9583C>G (p.Arg3195Gly)
c.8941C>G (p.Arg2981Gly)
c.6451C>G (p.Arg2151Gly)
10g.71815141C>TCA5547215CDH23c.9928C>T (p.Arg3310Cys)
c.3861C>T (n.3861C>T)
c.3420C>T (n.3420C>T)
c.9943C>T (p.Arg3315Cys)
c.3208C>T (p.Arg1070Cys)
n.3359C>T
c.3103C>T (p.Arg1035Cys)
c.619C>T (p.Arg207Cys)
c.514C>T (p.Arg172Cys)
c.10123C>T (p.Arg3375Cys)
c.10057C>T (p.Arg3353Cys)
c.10120C>T (p.Arg3374Cys)
c.10117C>T (p.Arg3373Cys)
c.10063C>T (p.Arg3355Cys)
c.10033C>T (p.Arg3345Cys)
c.10018C>T (p.Arg3340Cys)
c.9988C>T (p.Arg3330Cys)
c.9583C>T (p.Arg3195Cys)
c.8941C>T (p.Arg2981Cys)
c.6451C>T (p.Arg2151Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815142G>ACA5547216CDH23c.9929G>A (p.Arg3310His)
c.3862G>A (n.3862G>A)
c.3421G>A (n.3421G>A)
c.9944G>A (p.Arg3315His)
c.3209G>A (p.Arg1070His)
n.3360G>A
c.3104G>A (p.Arg1035His)
c.620G>A (p.Arg207His)
c.515G>A (p.Arg172His)
c.10124G>A (p.Arg3375His)
c.10058G>A (p.Arg3353His)
c.10121G>A (p.Arg3374His)
c.10118G>A (p.Arg3373His)
c.10064G>A (p.Arg3355His)
c.10034G>A (p.Arg3345His)
c.10019G>A (p.Arg3340His)
c.9989G>A (p.Arg3330His)
c.9584G>A (p.Arg3195His)
c.8942G>A (p.Arg2981His)
c.6452G>A (p.Arg2151His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815142G>CCA377138597CDH23c.9929G>C (p.Arg3310Pro)
c.3862G>C (n.3862G>C)
c.3421G>C (n.3421G>C)
c.9944G>C (p.Arg3315Pro)
c.3209G>C (p.Arg1070Pro)
n.3360G>C
c.3104G>C (p.Arg1035Pro)
c.620G>C (p.Arg207Pro)
c.515G>C (p.Arg172Pro)
c.10124G>C (p.Arg3375Pro)
c.10058G>C (p.Arg3353Pro)
c.10121G>C (p.Arg3374Pro)
c.10118G>C (p.Arg3373Pro)
c.10064G>C (p.Arg3355Pro)
c.10034G>C (p.Arg3345Pro)
c.10019G>C (p.Arg3340Pro)
c.9989G>C (p.Arg3330Pro)
c.9584G>C (p.Arg3195Pro)
c.8942G>C (p.Arg2981Pro)
c.6452G>C (p.Arg2151Pro)
10g.71815142G=CA1918895859CDH23c.9929G= (p.Arg3310=)
c.3862G= (n.3862G=)
c.3421G= (n.3421G=)
c.9944G= (p.Arg3315=)
c.3209G= (p.Arg1070=)
n.3360G=
c.3104G= (p.Arg1035=)
c.620G= (p.Arg207=)
c.515G= (p.Arg172=)
c.10124G= (p.Arg3375=)
c.10058G= (p.Arg3353=)
c.10121G= (p.Arg3374=)
c.10118G= (p.Arg3373=)
c.10064G= (p.Arg3355=)
c.10034G= (p.Arg3345=)
c.10019G= (p.Arg3340=)
c.9989G= (p.Arg3330=)
c.9584G= (p.Arg3195=)
c.8942G= (p.Arg2981=)
c.6452G= (p.Arg2151=)
10g.71815142G>TCA377138600CDH23c.9929G>T (p.Arg3310Leu)
c.3862G>T (n.3862G>T)
c.3421G>T (n.3421G>T)
c.9944G>T (p.Arg3315Leu)
c.3209G>T (p.Arg1070Leu)
n.3360G>T
c.3104G>T (p.Arg1035Leu)
c.620G>T (p.Arg207Leu)
c.515G>T (p.Arg172Leu)
c.10124G>T (p.Arg3375Leu)
c.10058G>T (p.Arg3353Leu)
c.10121G>T (p.Arg3374Leu)
c.10118G>T (p.Arg3373Leu)
c.10064G>T (p.Arg3355Leu)
c.10034G>T (p.Arg3345Leu)
c.10019G>T (p.Arg3340Leu)
c.9989G>T (p.Arg3330Leu)
c.9584G>T (p.Arg3195Leu)
c.8942G>T (p.Arg2981Leu)
c.6452G>T (p.Arg2151Leu)
10g.71815143C>ACA470283307CDH23c.9930C>A (p.Arg3310=)
c.3863C>A (n.3863C>A)
c.3422C>A (n.3422C>A)
c.9945C>A (p.Arg3315=)
c.3210C>A (p.Arg1070=)
n.3361C>A
c.3105C>A (p.Arg1035=)
c.621C>A (p.Arg207=)
c.516C>A (p.Arg172=)
c.10125C>A (p.Arg3375=)
c.10059C>A (p.Arg3353=)
c.10122C>A (p.Arg3374=)
c.10119C>A (p.Arg3373=)
c.10065C>A (p.Arg3355=)
c.10035C>A (p.Arg3345=)
c.10020C>A (p.Arg3340=)
c.9990C>A (p.Arg3330=)
c.9585C>A (p.Arg3195=)
c.8943C>A (p.Arg2981=)
c.6453C>A (p.Arg2151=)
10g.71815143C>GCA470283308CDH23c.9930C>G (p.Arg3310=)
c.3863C>G (n.3863C>G)
c.3422C>G (n.3422C>G)
c.9945C>G (p.Arg3315=)
c.3210C>G (p.Arg1070=)
n.3361C>G
c.3105C>G (p.Arg1035=)
c.621C>G (p.Arg207=)
c.516C>G (p.Arg172=)
c.10125C>G (p.Arg3375=)
c.10059C>G (p.Arg3353=)
c.10122C>G (p.Arg3374=)
c.10119C>G (p.Arg3373=)
c.10065C>G (p.Arg3355=)
c.10035C>G (p.Arg3345=)
c.10020C>G (p.Arg3340=)
c.9990C>G (p.Arg3330=)
c.9585C>G (p.Arg3195=)
c.8943C>G (p.Arg2981=)
c.6453C>G (p.Arg2151=)
10g.71815143C>TCA470283309CDH23c.9930C>T (p.Arg3310=)
c.3863C>T (n.3863C>T)
c.3422C>T (n.3422C>T)
c.9945C>T (p.Arg3315=)
c.3210C>T (p.Arg1070=)
n.3361C>T
c.3105C>T (p.Arg1035=)
c.621C>T (p.Arg207=)
c.516C>T (p.Arg172=)
c.10125C>T (p.Arg3375=)
c.10059C>T (p.Arg3353=)
c.10122C>T (p.Arg3374=)
c.10119C>T (p.Arg3373=)
c.10065C>T (p.Arg3355=)
c.10035C>T (p.Arg3345=)
c.10020C>T (p.Arg3340=)
c.9990C>T (p.Arg3330=)
c.9585C>T (p.Arg3195=)
c.8943C>T (p.Arg2981=)
c.6453C>T (p.Arg2151=)
 dbSNP
10g.71815144T>ACA377138612CDH23c.9931T>A (p.Ser3311Thr)
c.3864T>A (n.3864T>A)
c.3423T>A (n.3423T>A)
c.9946T>A (p.Ser3316Thr)
c.3211T>A (p.Ser1071Thr)
n.3362T>A
c.3106T>A (p.Ser1036Thr)
c.622T>A (p.Ser208Thr)
c.517T>A (p.Ser173Thr)
c.10126T>A (p.Ser3376Thr)
c.10060T>A (p.Ser3354Thr)
c.10123T>A (p.Ser3375Thr)
c.10120T>A (p.Ser3374Thr)
c.10066T>A (p.Ser3356Thr)
c.10036T>A (p.Ser3346Thr)
c.10021T>A (p.Ser3341Thr)
c.9991T>A (p.Ser3331Thr)
c.9586T>A (p.Ser3196Thr)
c.8944T>A (p.Ser2982Thr)
c.6454T>A (p.Ser2152Thr)
10g.71815144T>CCA377138615CDH23c.9931T>C (p.Ser3311Pro)
c.3864T>C (n.3864T>C)
c.3423T>C (n.3423T>C)
c.9946T>C (p.Ser3316Pro)
c.3211T>C (p.Ser1071Pro)
n.3362T>C
c.3106T>C (p.Ser1036Pro)
c.622T>C (p.Ser208Pro)
c.517T>C (p.Ser173Pro)
c.10126T>C (p.Ser3376Pro)
c.10060T>C (p.Ser3354Pro)
c.10123T>C (p.Ser3375Pro)
c.10120T>C (p.Ser3374Pro)
c.10066T>C (p.Ser3356Pro)
c.10036T>C (p.Ser3346Pro)
c.10021T>C (p.Ser3341Pro)
c.9991T>C (p.Ser3331Pro)
c.9586T>C (p.Ser3196Pro)
c.8944T>C (p.Ser2982Pro)
c.6454T>C (p.Ser2152Pro)
 dbSNP gnomAD v3 gnomAD v4
10g.71815144T>GCA377138621CDH23c.9931T>G (p.Ser3311Ala)
c.3864T>G (n.3864T>G)
c.3423T>G (n.3423T>G)
c.9946T>G (p.Ser3316Ala)
c.3211T>G (p.Ser1071Ala)
n.3362T>G
c.3106T>G (p.Ser1036Ala)
c.622T>G (p.Ser208Ala)
c.517T>G (p.Ser173Ala)
c.10126T>G (p.Ser3376Ala)
c.10060T>G (p.Ser3354Ala)
c.10123T>G (p.Ser3375Ala)
c.10120T>G (p.Ser3374Ala)
c.10066T>G (p.Ser3356Ala)
c.10036T>G (p.Ser3346Ala)
c.10021T>G (p.Ser3341Ala)
c.9991T>G (p.Ser3331Ala)
c.9586T>G (p.Ser3196Ala)
c.8944T>G (p.Ser2982Ala)
c.6454T>G (p.Ser2152Ala)
10g.71815144T=CA1918895863CDH23c.9931T= (p.Ser3311=)
c.3864T= (n.3864T=)
c.3423T= (n.3423T=)
c.9946T= (p.Ser3316=)
c.3211T= (p.Ser1071=)
n.3362T=
c.3106T= (p.Ser1036=)
c.622T= (p.Ser208=)
c.517T= (p.Ser173=)
c.10126T= (p.Ser3376=)
c.10060T= (p.Ser3354=)
c.10123T= (p.Ser3375=)
c.10120T= (p.Ser3374=)
c.10066T= (p.Ser3356=)
c.10036T= (p.Ser3346=)
c.10021T= (p.Ser3341=)
c.9991T= (p.Ser3331=)
c.9586T= (p.Ser3196=)
c.8944T= (p.Ser2982=)
c.6454T= (p.Ser2152=)
10g.71815145C>ACA377138624CDH23c.9932C>A (p.Ser3311Ter)
c.3865C>A (n.3865C>A)
c.3424C>A (n.3424C>A)
c.9947C>A (p.Ser3316Ter)
c.3212C>A (p.Ser1071Ter)
n.3363C>A
c.3107C>A (p.Ser1036Ter)
c.623C>A (p.Ser208Ter)
c.518C>A (p.Ser173Ter)
c.10127C>A (p.Ser3376Ter)
c.10061C>A (p.Ser3354Ter)
c.10124C>A (p.Ser3375Ter)
c.10121C>A (p.Ser3374Ter)
c.10067C>A (p.Ser3356Ter)
c.10037C>A (p.Ser3346Ter)
c.10022C>A (p.Ser3341Ter)
c.9992C>A (p.Ser3331Ter)
c.9587C>A (p.Ser3196Ter)
c.8945C>A (p.Ser2982Ter)
c.6455C>A (p.Ser2152Ter)
 dbSNP gnomAD v4
10g.71815145C=CA1918895866CDH23c.9932C= (p.Ser3311=)
c.3865C= (n.3865C=)
c.3424C= (n.3424C=)
c.9947C= (p.Ser3316=)
c.3212C= (p.Ser1071=)
n.3363C=
c.3107C= (p.Ser1036=)
c.623C= (p.Ser208=)
c.518C= (p.Ser173=)
c.10127C= (p.Ser3376=)
c.10061C= (p.Ser3354=)
c.10124C= (p.Ser3375=)
c.10121C= (p.Ser3374=)
c.10067C= (p.Ser3356=)
c.10037C= (p.Ser3346=)
c.10022C= (p.Ser3341=)
c.9992C= (p.Ser3331=)
c.9587C= (p.Ser3196=)
c.8945C= (p.Ser2982=)
c.6455C= (p.Ser2152=)
10g.71815145C>GCA377138627CDH23c.9932C>G (p.Ser3311Trp)
c.3865C>G (n.3865C>G)
c.3424C>G (n.3424C>G)
c.9947C>G (p.Ser3316Trp)
c.3212C>G (p.Ser1071Trp)
n.3363C>G
c.3107C>G (p.Ser1036Trp)
c.623C>G (p.Ser208Trp)
c.518C>G (p.Ser173Trp)
c.10127C>G (p.Ser3376Trp)
c.10061C>G (p.Ser3354Trp)
c.10124C>G (p.Ser3375Trp)
c.10121C>G (p.Ser3374Trp)
c.10067C>G (p.Ser3356Trp)
c.10037C>G (p.Ser3346Trp)
c.10022C>G (p.Ser3341Trp)
c.9992C>G (p.Ser3331Trp)
c.9587C>G (p.Ser3196Trp)
c.8945C>G (p.Ser2982Trp)
c.6455C>G (p.Ser2152Trp)
 dbSNP gnomAD v3 gnomAD v4
10g.71815145C>TCA5547217CDH23c.9932C>T (p.Ser3311Leu)
c.3865C>T (n.3865C>T)
c.3424C>T (n.3424C>T)
c.9947C>T (p.Ser3316Leu)
c.3212C>T (p.Ser1071Leu)
n.3363C>T
c.3107C>T (p.Ser1036Leu)
c.623C>T (p.Ser208Leu)
c.518C>T (p.Ser173Leu)
c.10127C>T (p.Ser3376Leu)
c.10061C>T (p.Ser3354Leu)
c.10124C>T (p.Ser3375Leu)
c.10121C>T (p.Ser3374Leu)
c.10067C>T (p.Ser3356Leu)
c.10037C>T (p.Ser3346Leu)
c.10022C>T (p.Ser3341Leu)
c.9992C>T (p.Ser3331Leu)
c.9587C>T (p.Ser3196Leu)
c.8945C>T (p.Ser2982Leu)
c.6455C>T (p.Ser2152Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815146G>ACA5547218CDH23c.9933G>A (p.Ser3311=)
c.3866G>A (n.3866G>A)
c.3425G>A (n.3425G>A)
c.9948G>A (p.Ser3316=)
c.3213G>A (p.Ser1071=)
n.3364G>A
c.3108G>A (p.Ser1036=)
c.624G>A (p.Ser208=)
c.519G>A (p.Ser173=)
c.10128G>A (p.Ser3376=)
c.10062G>A (p.Ser3354=)
c.10125G>A (p.Ser3375=)
c.10122G>A (p.Ser3374=)
c.10068G>A (p.Ser3356=)
c.10038G>A (p.Ser3346=)
c.10023G>A (p.Ser3341=)
c.9993G>A (p.Ser3331=)
c.9588G>A (p.Ser3196=)
c.8946G>A (p.Ser2982=)
c.6456G>A (p.Ser2152=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815146G>CCA470283313CDH23c.9933G>C (p.Ser3311=)
c.3866G>C (n.3866G>C)
c.3425G>C (n.3425G>C)
c.9948G>C (p.Ser3316=)
c.3213G>C (p.Ser1071=)
n.3364G>C
c.3108G>C (p.Ser1036=)
c.624G>C (p.Ser208=)
c.519G>C (p.Ser173=)
c.10128G>C (p.Ser3376=)
c.10062G>C (p.Ser3354=)
c.10125G>C (p.Ser3375=)
c.10122G>C (p.Ser3374=)
c.10068G>C (p.Ser3356=)
c.10038G>C (p.Ser3346=)
c.10023G>C (p.Ser3341=)
c.9993G>C (p.Ser3331=)
c.9588G>C (p.Ser3196=)
c.8946G>C (p.Ser2982=)
c.6456G>C (p.Ser2152=)
10g.71815146G=CA1918895872CDH23c.9933G= (p.Ser3311=)
c.3866G= (n.3866G=)
c.3425G= (n.3425G=)
c.9948G= (p.Ser3316=)
c.3213G= (p.Ser1071=)
n.3364G=
c.3108G= (p.Ser1036=)
c.624G= (p.Ser208=)
c.519G= (p.Ser173=)
c.10128G= (p.Ser3376=)
c.10062G= (p.Ser3354=)
c.10125G= (p.Ser3375=)
c.10122G= (p.Ser3374=)
c.10068G= (p.Ser3356=)
c.10038G= (p.Ser3346=)
c.10023G= (p.Ser3341=)
c.9993G= (p.Ser3331=)
c.9588G= (p.Ser3196=)
c.8946G= (p.Ser2982=)
c.6456G= (p.Ser2152=)
10g.71815146G>TCA470283314CDH23c.9933G>T (p.Ser3311=)
c.3866G>T (n.3866G>T)
c.3425G>T (n.3425G>T)
c.9948G>T (p.Ser3316=)
c.3213G>T (p.Ser1071=)
n.3364G>T
c.3108G>T (p.Ser1036=)
c.624G>T (p.Ser208=)
c.519G>T (p.Ser173=)
c.10128G>T (p.Ser3376=)
c.10062G>T (p.Ser3354=)
c.10125G>T (p.Ser3375=)
c.10122G>T (p.Ser3374=)
c.10068G>T (p.Ser3356=)
c.10038G>T (p.Ser3346=)
c.10023G>T (p.Ser3341=)
c.9993G>T (p.Ser3331=)
c.9588G>T (p.Ser3196=)
c.8946G>T (p.Ser2982=)
c.6456G>T (p.Ser2152=)
10g.71815147C>ACA377138635CDH23c.9934C>A (p.Leu3312Met)
c.3867C>A (n.3867C>A)
c.3426C>A (n.3426C>A)
c.9949C>A (p.Leu3317Met)
c.3214C>A (p.Leu1072Met)
n.3365C>A
c.3109C>A (p.Leu1037Met)
c.625C>A (p.Leu209Met)
c.520C>A (p.Leu174Met)
c.10129C>A (p.Leu3377Met)
c.10063C>A (p.Leu3355Met)
c.10126C>A (p.Leu3376Met)
c.10123C>A (p.Leu3375Met)
c.10069C>A (p.Leu3357Met)
c.10039C>A (p.Leu3347Met)
c.10024C>A (p.Leu3342Met)
c.9994C>A (p.Leu3332Met)
c.9589C>A (p.Leu3197Met)
c.8947C>A (p.Leu2983Met)
c.6457C>A (p.Leu2153Met)
10g.71815147C>GCA377138637CDH23c.9934C>G (p.Leu3312Val)
c.3867C>G (n.3867C>G)
c.3426C>G (n.3426C>G)
c.9949C>G (p.Leu3317Val)
c.3214C>G (p.Leu1072Val)
n.3365C>G
c.3109C>G (p.Leu1037Val)
c.625C>G (p.Leu209Val)
c.520C>G (p.Leu174Val)
c.10129C>G (p.Leu3377Val)
c.10063C>G (p.Leu3355Val)
c.10126C>G (p.Leu3376Val)
c.10123C>G (p.Leu3375Val)
c.10069C>G (p.Leu3357Val)
c.10039C>G (p.Leu3347Val)
c.10024C>G (p.Leu3342Val)
c.9994C>G (p.Leu3332Val)
c.9589C>G (p.Leu3197Val)
c.8947C>G (p.Leu2983Val)
c.6457C>G (p.Leu2153Val)
 dbSNP
10g.71815147C>TCA470283315CDH23c.9934C>T (p.Leu3312=)
c.3867C>T (n.3867C>T)
c.3426C>T (n.3426C>T)
c.9949C>T (p.Leu3317=)
c.3214C>T (p.Leu1072=)
n.3365C>T
c.3109C>T (p.Leu1037=)
c.625C>T (p.Leu209=)
c.520C>T (p.Leu174=)
c.10129C>T (p.Leu3377=)
c.10063C>T (p.Leu3355=)
c.10126C>T (p.Leu3376=)
c.10123C>T (p.Leu3375=)
c.10069C>T (p.Leu3357=)
c.10039C>T (p.Leu3347=)
c.10024C>T (p.Leu3342=)
c.9994C>T (p.Leu3332=)
c.9589C>T (p.Leu3197=)
c.8947C>T (p.Leu2983=)
c.6457C>T (p.Leu2153=)
 ClinVar dbSNP
10g.71815148T>ACA5547219CDH23c.9935T>A (p.Leu3312Gln)
c.3868T>A (n.3868T>A)
c.3427T>A (n.3427T>A)
c.9950T>A (p.Leu3317Gln)
c.3215T>A (p.Leu1072Gln)
n.3366T>A
c.3110T>A (p.Leu1037Gln)
c.626T>A (p.Leu209Gln)
c.521T>A (p.Leu174Gln)
c.10130T>A (p.Leu3377Gln)
c.10064T>A (p.Leu3355Gln)
c.10127T>A (p.Leu3376Gln)
c.10124T>A (p.Leu3375Gln)
c.10070T>A (p.Leu3357Gln)
c.10040T>A (p.Leu3347Gln)
c.10025T>A (p.Leu3342Gln)
c.9995T>A (p.Leu3332Gln)
c.9590T>A (p.Leu3197Gln)
c.8948T>A (p.Leu2983Gln)
c.6458T>A (p.Leu2153Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815148T>CCA5547220CDH23c.9935T>C (p.Leu3312Pro)
c.3868T>C (n.3868T>C)
c.3427T>C (n.3427T>C)
c.9950T>C (p.Leu3317Pro)
c.3215T>C (p.Leu1072Pro)
n.3366T>C
c.3110T>C (p.Leu1037Pro)
c.626T>C (p.Leu209Pro)
c.521T>C (p.Leu174Pro)
c.10130T>C (p.Leu3377Pro)
c.10064T>C (p.Leu3355Pro)
c.10127T>C (p.Leu3376Pro)
c.10124T>C (p.Leu3375Pro)
c.10070T>C (p.Leu3357Pro)
c.10040T>C (p.Leu3347Pro)
c.10025T>C (p.Leu3342Pro)
c.9995T>C (p.Leu3332Pro)
c.9590T>C (p.Leu3197Pro)
c.8948T>C (p.Leu2983Pro)
c.6458T>C (p.Leu2153Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71815148T>GCA377138641CDH23c.9935T>G (p.Leu3312Arg)
c.3868T>G (n.3868T>G)
c.3427T>G (n.3427T>G)
c.9950T>G (p.Leu3317Arg)
c.3215T>G (p.Leu1072Arg)
n.3366T>G
c.3110T>G (p.Leu1037Arg)
c.626T>G (p.Leu209Arg)
c.521T>G (p.Leu174Arg)
c.10130T>G (p.Leu3377Arg)
c.10064T>G (p.Leu3355Arg)
c.10127T>G (p.Leu3376Arg)
c.10124T>G (p.Leu3375Arg)
c.10070T>G (p.Leu3357Arg)
c.10040T>G (p.Leu3347Arg)
c.10025T>G (p.Leu3342Arg)
c.9995T>G (p.Leu3332Arg)
c.9590T>G (p.Leu3197Arg)
c.8948T>G (p.Leu2983Arg)
c.6458T>G (p.Leu2153Arg)
10g.71815148T=CA1918895880CDH23c.9935T= (p.Leu3312=)
c.3868T= (n.3868T=)
c.3427T= (n.3427T=)
c.9950T= (p.Leu3317=)
c.3215T= (p.Leu1072=)
n.3366T=
c.3110T= (p.Leu1037=)
c.626T= (p.Leu209=)
c.521T= (p.Leu174=)
c.10130T= (p.Leu3377=)
c.10064T= (p.Leu3355=)
c.10127T= (p.Leu3376=)
c.10124T= (p.Leu3375=)
c.10070T= (p.Leu3357=)
c.10040T= (p.Leu3347=)
c.10025T= (p.Leu3342=)
c.9995T= (p.Leu3332=)
c.9590T= (p.Leu3197=)
c.8948T= (p.Leu2983=)
c.6458T= (p.Leu2153=)
10g.71815149G>ACA470283316CDH23c.9936G>A (p.Leu3312=)
c.3869G>A (n.3869G>A)
c.3428G>A (n.3428G>A)
c.9951G>A (p.Leu3317=)
c.3216G>A (p.Leu1072=)
n.3367G>A
c.3111G>A (p.Leu1037=)
c.627G>A (p.Leu209=)
c.522G>A (p.Leu174=)
c.10131G>A (p.Leu3377=)
c.10065G>A (p.Leu3355=)
c.10128G>A (p.Leu3376=)
c.10125G>A (p.Leu3375=)
c.10071G>A (p.Leu3357=)
c.10041G>A (p.Leu3347=)
c.10026G>A (p.Leu3342=)
c.9996G>A (p.Leu3332=)
c.9591G>A (p.Leu3197=)
c.8949G>A (p.Leu2983=)
c.6459G>A (p.Leu2153=)
10g.71815149G>CCA470283317CDH23c.9936G>C (p.Leu3312=)
c.3869G>C (n.3869G>C)
c.3428G>C (n.3428G>C)
c.9951G>C (p.Leu3317=)
c.3216G>C (p.Leu1072=)
n.3367G>C
c.3111G>C (p.Leu1037=)
c.627G>C (p.Leu209=)
c.522G>C (p.Leu174=)
c.10131G>C (p.Leu3377=)
c.10065G>C (p.Leu3355=)
c.10128G>C (p.Leu3376=)
c.10125G>C (p.Leu3375=)
c.10071G>C (p.Leu3357=)
c.10041G>C (p.Leu3347=)
c.10026G>C (p.Leu3342=)
c.9996G>C (p.Leu3332=)
c.9591G>C (p.Leu3197=)
c.8949G>C (p.Leu2983=)
c.6459G>C (p.Leu2153=)
10g.71815149G>TCA470283318CDH23c.9936G>T (p.Leu3312=)
c.3869G>T (n.3869G>T)
c.3428G>T (n.3428G>T)
c.9951G>T (p.Leu3317=)
c.3216G>T (p.Leu1072=)
n.3367G>T
c.3111G>T (p.Leu1037=)
c.627G>T (p.Leu209=)
c.522G>T (p.Leu174=)
c.10131G>T (p.Leu3377=)
c.10065G>T (p.Leu3355=)
c.10128G>T (p.Leu3376=)
c.10125G>T (p.Leu3375=)
c.10071G>T (p.Leu3357=)
c.10041G>T (p.Leu3347=)
c.10026G>T (p.Leu3342=)
c.9996G>T (p.Leu3332=)
c.9591G>T (p.Leu3197=)
c.8949G>T (p.Leu2983=)
c.6459G>T (p.Leu2153=)
10g.71815150G>ACA377138647CDH23c.9937G>A (p.Glu3313Lys)
c.3870G>A (n.3870G>A)
c.3429G>A (n.3429G>A)
c.9952G>A (p.Glu3318Lys)
c.3217G>A (p.Glu1073Lys)
n.3368G>A
c.3112G>A (p.Glu1038Lys)
c.628G>A (p.Glu210Lys)
c.523G>A (p.Glu175Lys)
c.10132G>A (p.Glu3378Lys)
c.10066G>A (p.Glu3356Lys)
c.10129G>A (p.Glu3377Lys)
c.10126G>A (p.Glu3376Lys)
c.10072G>A (p.Glu3358Lys)
c.10042G>A (p.Glu3348Lys)
c.10027G>A (p.Glu3343Lys)
c.9997G>A (p.Glu3333Lys)
c.9592G>A (p.Glu3198Lys)
c.8950G>A (p.Glu2984Lys)
c.6460G>A (p.Glu2154Lys)
 ClinVar dbSNP gnomAD v4 COSMIC
10g.71815150G>CCA377138643CDH23c.9937G>C (p.Glu3313Gln)
c.3870G>C (n.3870G>C)
c.3429G>C (n.3429G>C)
c.9952G>C (p.Glu3318Gln)
c.3217G>C (p.Glu1073Gln)
n.3368G>C
c.3112G>C (p.Glu1038Gln)
c.628G>C (p.Glu210Gln)
c.523G>C (p.Glu175Gln)
c.10132G>C (p.Glu3378Gln)
c.10066G>C (p.Glu3356Gln)
c.10129G>C (p.Glu3377Gln)
c.10126G>C (p.Glu3376Gln)
c.10072G>C (p.Glu3358Gln)
c.10042G>C (p.Glu3348Gln)
c.10027G>C (p.Glu3343Gln)
c.9997G>C (p.Glu3333Gln)
c.9592G>C (p.Glu3198Gln)
c.8950G>C (p.Glu2984Gln)
c.6460G>C (p.Glu2154Gln)
10g.71815150G>TCA377138645CDH23c.9937G>T (p.Glu3313Ter)
c.3870G>T (n.3870G>T)
c.3429G>T (n.3429G>T)
c.9952G>T (p.Glu3318Ter)
c.3217G>T (p.Glu1073Ter)
n.3368G>T
c.3112G>T (p.Glu1038Ter)
c.628G>T (p.Glu210Ter)
c.523G>T (p.Glu175Ter)
c.10132G>T (p.Glu3378Ter)
c.10066G>T (p.Glu3356Ter)
c.10129G>T (p.Glu3377Ter)
c.10126G>T (p.Glu3376Ter)
c.10072G>T (p.Glu3358Ter)
c.10042G>T (p.Glu3348Ter)
c.10027G>T (p.Glu3343Ter)
c.9997G>T (p.Glu3333Ter)
c.9592G>T (p.Glu3198Ter)
c.8950G>T (p.Glu2984Ter)
c.6460G>T (p.Glu2154Ter)
10g.71815151A>CCA377138649CDH23c.9938A>C (p.Glu3313Ala)
c.3871A>C (n.3871A>C)
c.3430A>C (n.3430A>C)
c.9953A>C (p.Glu3318Ala)
c.3218A>C (p.Glu1073Ala)
n.3369A>C
c.3113A>C (p.Glu1038Ala)
c.629A>C (p.Glu210Ala)
c.524A>C (p.Glu175Ala)
c.10133A>C (p.Glu3378Ala)
c.10067A>C (p.Glu3356Ala)
c.10130A>C (p.Glu3377Ala)
c.10127A>C (p.Glu3376Ala)
c.10073A>C (p.Glu3358Ala)
c.10043A>C (p.Glu3348Ala)
c.10028A>C (p.Glu3343Ala)
c.9998A>C (p.Glu3333Ala)
c.9593A>C (p.Glu3198Ala)
c.8951A>C (p.Glu2984Ala)
c.6461A>C (p.Glu2154Ala)
10g.71815151A>GCA377138650CDH23c.9938A>G (p.Glu3313Gly)
c.3871A>G (n.3871A>G)
c.3430A>G (n.3430A>G)
c.9953A>G (p.Glu3318Gly)
c.3218A>G (p.Glu1073Gly)
n.3369A>G
c.3113A>G (p.Glu1038Gly)
c.629A>G (p.Glu210Gly)
c.524A>G (p.Glu175Gly)
c.10133A>G (p.Glu3378Gly)
c.10067A>G (p.Glu3356Gly)
c.10130A>G (p.Glu3377Gly)
c.10127A>G (p.Glu3376Gly)
c.10073A>G (p.Glu3358Gly)
c.10043A>G (p.Glu3348Gly)
c.10028A>G (p.Glu3343Gly)
c.9998A>G (p.Glu3333Gly)
c.9593A>G (p.Glu3198Gly)
c.8951A>G (p.Glu2984Gly)
c.6461A>G (p.Glu2154Gly)
 dbSNP
10g.71815151A>TCA377138651CDH23c.9938A>T (p.Glu3313Val)
c.3871A>T (n.3871A>T)
c.3430A>T (n.3430A>T)
c.9953A>T (p.Glu3318Val)
c.3218A>T (p.Glu1073Val)
n.3369A>T
c.3113A>T (p.Glu1038Val)
c.629A>T (p.Glu210Val)
c.524A>T (p.Glu175Val)
c.10133A>T (p.Glu3378Val)
c.10067A>T (p.Glu3356Val)
c.10130A>T (p.Glu3377Val)
c.10127A>T (p.Glu3376Val)
c.10073A>T (p.Glu3358Val)
c.10043A>T (p.Glu3348Val)
c.10028A>T (p.Glu3343Val)
c.9998A>T (p.Glu3333Val)
c.9593A>T (p.Glu3198Val)
c.8951A>T (p.Glu2984Val)
c.6461A>T (p.Glu2154Val)
10g.71815152G>ACA470283322CDH23c.9939G>A (p.Glu3313=)
c.3872G>A (n.3872G>A)
c.3431G>A (n.3431G>A)
c.9954G>A (p.Glu3318=)
c.3219G>A (p.Glu1073=)
n.3370G>A
c.3114G>A (p.Glu1038=)
c.630G>A (p.Glu210=)
c.525G>A (p.Glu175=)
c.10134G>A (p.Glu3378=)
c.10068G>A (p.Glu3356=)
c.10131G>A (p.Glu3377=)
c.10128G>A (p.Glu3376=)
c.10074G>A (p.Glu3358=)
c.10044G>A (p.Glu3348=)
c.10029G>A (p.Glu3343=)
c.9999G>A (p.Glu3333=)
c.9594G>A (p.Glu3198=)
c.8952G>A (p.Glu2984=)
c.6462G>A (p.Glu2154=)
 ClinVar
10g.71815152G>CCA377138653CDH23c.9939G>C (p.Glu3313Asp)
c.3872G>C (n.3872G>C)
c.3431G>C (n.3431G>C)
c.9954G>C (p.Glu3318Asp)
c.3219G>C (p.Glu1073Asp)
n.3370G>C
c.3114G>C (p.Glu1038Asp)
c.630G>C (p.Glu210Asp)
c.525G>C (p.Glu175Asp)
c.10134G>C (p.Glu3378Asp)
c.10068G>C (p.Glu3356Asp)
c.10131G>C (p.Glu3377Asp)
c.10128G>C (p.Glu3376Asp)
c.10074G>C (p.Glu3358Asp)
c.10044G>C (p.Glu3348Asp)
c.10029G>C (p.Glu3343Asp)
c.9999G>C (p.Glu3333Asp)
c.9594G>C (p.Glu3198Asp)
c.8952G>C (p.Glu2984Asp)
c.6462G>C (p.Glu2154Asp)
10g.71815152G>TCA377138655CDH23c.9939G>T (p.Glu3313Asp)
c.3872G>T (n.3872G>T)
c.3431G>T (n.3431G>T)
c.9954G>T (p.Glu3318Asp)
c.3219G>T (p.Glu1073Asp)
n.3370G>T
c.3114G>T (p.Glu1038Asp)
c.630G>T (p.Glu210Asp)
c.525G>T (p.Glu175Asp)
c.10134G>T (p.Glu3378Asp)
c.10068G>T (p.Glu3356Asp)
c.10131G>T (p.Glu3377Asp)
c.10128G>T (p.Glu3376Asp)
c.10074G>T (p.Glu3358Asp)
c.10044G>T (p.Glu3348Asp)
c.10029G>T (p.Glu3343Asp)
c.9999G>T (p.Glu3333Asp)
c.9594G>T (p.Glu3198Asp)
c.8952G>T (p.Glu2984Asp)
c.6462G>T (p.Glu2154Asp)
10g.71815153A=CA1918895883CDH23c.9940A= (p.Thr3314=)
c.3873A= (n.3873A=)
c.3432A= (n.3432A=)
c.9955A= (p.Thr3319=)
c.3220A= (p.Thr1074=)
n.3371A=
c.3115A= (p.Thr1039=)
c.631A= (p.Thr211=)
c.526A= (p.Thr176=)
c.10135A= (p.Thr3379=)
c.10069A= (p.Thr3357=)
c.10132A= (p.Thr3378=)
c.10129A= (p.Thr3377=)
c.10075A= (p.Thr3359=)
c.10045A= (p.Thr3349=)
c.10030A= (p.Thr3344=)
c.10000A= (p.Thr3334=)
c.9595A= (p.Thr3199=)
c.8953A= (p.Thr2985=)
c.6463A= (p.Thr2155=)
10g.71815153A>CCA377138656CDH23c.9940A>C (p.Thr3314Pro)
c.3873A>C (n.3873A>C)
c.3432A>C (n.3432A>C)
c.9955A>C (p.Thr3319Pro)
c.3220A>C (p.Thr1074Pro)
n.3371A>C
c.3115A>C (p.Thr1039Pro)
c.631A>C (p.Thr211Pro)
c.526A>C (p.Thr176Pro)
c.10135A>C (p.Thr3379Pro)
c.10069A>C (p.Thr3357Pro)
c.10132A>C (p.Thr3378Pro)
c.10129A>C (p.Thr3377Pro)
c.10075A>C (p.Thr3359Pro)
c.10045A>C (p.Thr3349Pro)
c.10030A>C (p.Thr3344Pro)
c.10000A>C (p.Thr3334Pro)
c.9595A>C (p.Thr3199Pro)
c.8953A>C (p.Thr2985Pro)
c.6463A>C (p.Thr2155Pro)
 dbSNP
10g.71815153A>GCA377138664CDH23c.9940A>G (p.Thr3314Ala)
c.3873A>G (n.3873A>G)
c.3432A>G (n.3432A>G)
c.9955A>G (p.Thr3319Ala)
c.3220A>G (p.Thr1074Ala)
n.3371A>G
c.3115A>G (p.Thr1039Ala)
c.631A>G (p.Thr211Ala)
c.526A>G (p.Thr176Ala)
c.10135A>G (p.Thr3379Ala)
c.10069A>G (p.Thr3357Ala)
c.10132A>G (p.Thr3378Ala)
c.10129A>G (p.Thr3377Ala)
c.10075A>G (p.Thr3359Ala)
c.10045A>G (p.Thr3349Ala)
c.10030A>G (p.Thr3344Ala)
c.10000A>G (p.Thr3334Ala)
c.9595A>G (p.Thr3199Ala)
c.8953A>G (p.Thr2985Ala)
c.6463A>G (p.Thr2155Ala)
10g.71815153A>TCA5547221CDH23c.9940A>T (p.Thr3314Ser)
c.3873A>T (n.3873A>T)
c.3432A>T (n.3432A>T)
c.9955A>T (p.Thr3319Ser)
c.3220A>T (p.Thr1074Ser)
n.3371A>T
c.3115A>T (p.Thr1039Ser)
c.631A>T (p.Thr211Ser)
c.526A>T (p.Thr176Ser)
c.10135A>T (p.Thr3379Ser)
c.10069A>T (p.Thr3357Ser)
c.10132A>T (p.Thr3378Ser)
c.10129A>T (p.Thr3377Ser)
c.10075A>T (p.Thr3359Ser)
c.10045A>T (p.Thr3349Ser)
c.10030A>T (p.Thr3344Ser)
c.10000A>T (p.Thr3334Ser)
c.9595A>T (p.Thr3199Ser)
c.8953A>T (p.Thr2985Ser)
c.6463A>T (p.Thr2155Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71815154C>ACA377138666CDH23c.9941C>A (p.Thr3314Lys)
c.3874C>A (n.3874C>A)
c.3433C>A (n.3433C>A)
c.9956C>A (p.Thr3319Lys)
c.3221C>A (p.Thr1074Lys)
n.3372C>A
c.3116C>A (p.Thr1039Lys)
c.632C>A (p.Thr211Lys)
c.527C>A (p.Thr176Lys)
c.10136C>A (p.Thr3379Lys)
c.10070C>A (p.Thr3357Lys)
c.10133C>A (p.Thr3378Lys)
c.10130C>A (p.Thr3377Lys)
c.10076C>A (p.Thr3359Lys)
c.10046C>A (p.Thr3349Lys)
c.10031C>A (p.Thr3344Lys)
c.10001C>A (p.Thr3334Lys)
c.9596C>A (p.Thr3199Lys)
c.8954C>A (p.Thr2985Lys)
c.6464C>A (p.Thr2155Lys)
10g.71815154C=CA1918895885CDH23c.9941C= (p.Thr3314=)
c.3874C= (n.3874C=)
c.3433C= (n.3433C=)
c.9956C= (p.Thr3319=)
c.3221C= (p.Thr1074=)
n.3372C=
c.3116C= (p.Thr1039=)
c.632C= (p.Thr211=)
c.527C= (p.Thr176=)
c.10136C= (p.Thr3379=)
c.10070C= (p.Thr3357=)
c.10133C= (p.Thr3378=)
c.10130C= (p.Thr3377=)
c.10076C= (p.Thr3359=)
c.10046C= (p.Thr3349=)
c.10031C= (p.Thr3344=)
c.10001C= (p.Thr3334=)
c.9596C= (p.Thr3199=)
c.8954C= (p.Thr2985=)
c.6464C= (p.Thr2155=)
10g.71815154C>GCA377138667CDH23c.9941C>G (p.Thr3314Arg)
c.3874C>G (n.3874C>G)
c.3433C>G (n.3433C>G)
c.9956C>G (p.Thr3319Arg)
c.3221C>G (p.Thr1074Arg)
n.3372C>G
c.3116C>G (p.Thr1039Arg)
c.632C>G (p.Thr211Arg)
c.527C>G (p.Thr176Arg)
c.10136C>G (p.Thr3379Arg)
c.10070C>G (p.Thr3357Arg)
c.10133C>G (p.Thr3378Arg)
c.10130C>G (p.Thr3377Arg)
c.10076C>G (p.Thr3359Arg)
c.10046C>G (p.Thr3349Arg)
c.10031C>G (p.Thr3344Arg)
c.10001C>G (p.Thr3334Arg)
c.9596C>G (p.Thr3199Arg)
c.8954C>G (p.Thr2985Arg)
c.6464C>G (p.Thr2155Arg)
10g.71815154C>TCA5547222CDH23c.9941C>T (p.Thr3314Met)
c.3874C>T (n.3874C>T)
c.3433C>T (n.3433C>T)
c.9956C>T (p.Thr3319Met)
c.3221C>T (p.Thr1074Met)
n.3372C>T
c.3116C>T (p.Thr1039Met)
c.632C>T (p.Thr211Met)
c.527C>T (p.Thr176Met)
c.10136C>T (p.Thr3379Met)
c.10070C>T (p.Thr3357Met)
c.10133C>T (p.Thr3378Met)
c.10130C>T (p.Thr3377Met)
c.10076C>T (p.Thr3359Met)
c.10046C>T (p.Thr3349Met)
c.10031C>T (p.Thr3344Met)
c.10001C>T (p.Thr3334Met)
c.9596C>T (p.Thr3199Met)
c.8954C>T (p.Thr2985Met)
c.6464C>T (p.Thr2155Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815155G>ACA5547223CDH23c.9942G>A (p.Thr3314=)
c.3875G>A (n.3875G>A)
c.3434G>A (n.3434G>A)
c.9957G>A (p.Thr3319=)
c.3222G>A (p.Thr1074=)
n.3373G>A
c.3117G>A (p.Thr1039=)
c.633G>A (p.Thr211=)
c.528G>A (p.Thr176=)
c.10137G>A (p.Thr3379=)
c.10071G>A (p.Thr3357=)
c.10134G>A (p.Thr3378=)
c.10131G>A (p.Thr3377=)
c.10077G>A (p.Thr3359=)
c.10047G>A (p.Thr3349=)
c.10032G>A (p.Thr3344=)
c.10002G>A (p.Thr3334=)
c.9597G>A (p.Thr3199=)
c.8955G>A (p.Thr2985=)
c.6465G>A (p.Thr2155=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815155G>CCA470283323CDH23c.9942G>C (p.Thr3314=)
c.3875G>C (n.3875G>C)
c.3434G>C (n.3434G>C)
c.9957G>C (p.Thr3319=)
c.3222G>C (p.Thr1074=)
n.3373G>C
c.3117G>C (p.Thr1039=)
c.633G>C (p.Thr211=)
c.528G>C (p.Thr176=)
c.10137G>C (p.Thr3379=)
c.10071G>C (p.Thr3357=)
c.10134G>C (p.Thr3378=)
c.10131G>C (p.Thr3377=)
c.10077G>C (p.Thr3359=)
c.10047G>C (p.Thr3349=)
c.10032G>C (p.Thr3344=)
c.10002G>C (p.Thr3334=)
c.9597G>C (p.Thr3199=)
c.8955G>C (p.Thr2985=)
c.6465G>C (p.Thr2155=)
10g.71815155G=CA1918895892CDH23c.9942G= (p.Thr3314=)
c.3875G= (n.3875G=)
c.3434G= (n.3434G=)
c.9957G= (p.Thr3319=)
c.3222G= (p.Thr1074=)
n.3373G=
c.3117G= (p.Thr1039=)
c.633G= (p.Thr211=)
c.528G= (p.Thr176=)
c.10137G= (p.Thr3379=)
c.10071G= (p.Thr3357=)
c.10134G= (p.Thr3378=)
c.10131G= (p.Thr3377=)
c.10077G= (p.Thr3359=)
c.10047G= (p.Thr3349=)
c.10032G= (p.Thr3344=)
c.10002G= (p.Thr3334=)
c.9597G= (p.Thr3199=)
c.8955G= (p.Thr2985=)
c.6465G= (p.Thr2155=)
10g.71815155G>TCA470283325CDH23c.9942G>T (p.Thr3314=)
c.3875G>T (n.3875G>T)
c.3434G>T (n.3434G>T)
c.9957G>T (p.Thr3319=)
c.3222G>T (p.Thr1074=)
n.3373G>T
c.3117G>T (p.Thr1039=)
c.633G>T (p.Thr211=)
c.528G>T (p.Thr176=)
c.10137G>T (p.Thr3379=)
c.10071G>T (p.Thr3357=)
c.10134G>T (p.Thr3378=)
c.10131G>T (p.Thr3377=)
c.10077G>T (p.Thr3359=)
c.10047G>T (p.Thr3349=)
c.10032G>T (p.Thr3344=)
c.10002G>T (p.Thr3334=)
c.9597G>T (p.Thr3199=)
c.8955G>T (p.Thr2985=)
c.6465G>T (p.Thr2155=)
10g.71815156C>ACA377138672CDH23c.9943C>A (p.Leu3315Met)
c.3876C>A (n.3876C>A)
c.3435C>A (n.3435C>A)
c.9958C>A (p.Leu3320Met)
c.3223C>A (p.Leu1075Met)
n.3374C>A
c.3118C>A (p.Leu1040Met)
c.634C>A (p.Leu212Met)
c.529C>A (p.Leu177Met)
c.10138C>A (p.Leu3380Met)
c.10072C>A (p.Leu3358Met)
c.10135C>A (p.Leu3379Met)
c.10132C>A (p.Leu3378Met)
c.10078C>A (p.Leu3360Met)
c.10048C>A (p.Leu3350Met)
c.10033C>A (p.Leu3345Met)
c.10003C>A (p.Leu3335Met)
c.9598C>A (p.Leu3200Met)
c.8956C>A (p.Leu2986Met)
c.6466C>A (p.Leu2156Met)
 dbSNP gnomAD v3 gnomAD v4
10g.71815156C=CA1918895897CDH23c.9943C= (p.Leu3315=)
c.3876C= (n.3876C=)
c.3435C= (n.3435C=)
c.9958C= (p.Leu3320=)
c.3223C= (p.Leu1075=)
n.3374C=
c.3118C= (p.Leu1040=)
c.634C= (p.Leu212=)
c.529C= (p.Leu177=)
c.10138C= (p.Leu3380=)
c.10072C= (p.Leu3358=)
c.10135C= (p.Leu3379=)
c.10132C= (p.Leu3378=)
c.10078C= (p.Leu3360=)
c.10048C= (p.Leu3350=)
c.10033C= (p.Leu3345=)
c.10003C= (p.Leu3335=)
c.9598C= (p.Leu3200=)
c.8956C= (p.Leu2986=)
c.6466C= (p.Leu2156=)
10g.71815156C>GCA377138675CDH23c.9943C>G (p.Leu3315Val)
c.3876C>G (n.3876C>G)
c.3435C>G (n.3435C>G)
c.9958C>G (p.Leu3320Val)
c.3223C>G (p.Leu1075Val)
n.3374C>G
c.3118C>G (p.Leu1040Val)
c.634C>G (p.Leu212Val)
c.529C>G (p.Leu177Val)
c.10138C>G (p.Leu3380Val)
c.10072C>G (p.Leu3358Val)
c.10135C>G (p.Leu3379Val)
c.10132C>G (p.Leu3378Val)
c.10078C>G (p.Leu3360Val)
c.10048C>G (p.Leu3350Val)
c.10033C>G (p.Leu3345Val)
c.10003C>G (p.Leu3335Val)
c.9598C>G (p.Leu3200Val)
c.8956C>G (p.Leu2986Val)
c.6466C>G (p.Leu2156Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71815156C>TCA470283326CDH23c.9943C>T (p.Leu3315=)
c.3876C>T (n.3876C>T)
c.3435C>T (n.3435C>T)
c.9958C>T (p.Leu3320=)
c.3223C>T (p.Leu1075=)
n.3374C>T
c.3118C>T (p.Leu1040=)
c.634C>T (p.Leu212=)
c.529C>T (p.Leu177=)
c.10138C>T (p.Leu3380=)
c.10072C>T (p.Leu3358=)
c.10135C>T (p.Leu3379=)
c.10132C>T (p.Leu3378=)
c.10078C>T (p.Leu3360=)
c.10048C>T (p.Leu3350=)
c.10033C>T (p.Leu3345=)
c.10003C>T (p.Leu3335=)
c.9598C>T (p.Leu3200=)
c.8956C>T (p.Leu2986=)
c.6466C>T (p.Leu2156=)
 ClinVar dbSNP
10g.71815157T>ACA377138678CDH23c.9944T>A (p.Leu3315Gln)
c.3877T>A (n.3877T>A)
c.3436T>A (n.3436T>A)
c.9959T>A (p.Leu3320Gln)
c.3224T>A (p.Leu1075Gln)
n.3375T>A
c.3119T>A (p.Leu1040Gln)
c.635T>A (p.Leu212Gln)
c.530T>A (p.Leu177Gln)
c.10139T>A (p.Leu3380Gln)
c.10073T>A (p.Leu3358Gln)
c.10136T>A (p.Leu3379Gln)
c.10133T>A (p.Leu3378Gln)
c.10079T>A (p.Leu3360Gln)
c.10049T>A (p.Leu3350Gln)
c.10034T>A (p.Leu3345Gln)
c.10004T>A (p.Leu3335Gln)
c.9599T>A (p.Leu3200Gln)
c.8957T>A (p.Leu2986Gln)
c.6467T>A (p.Leu2156Gln)
10g.71815157T>CCA377138680CDH23c.9944T>C (p.Leu3315Pro)
c.3877T>C (n.3877T>C)
c.3436T>C (n.3436T>C)
c.9959T>C (p.Leu3320Pro)
c.3224T>C (p.Leu1075Pro)
n.3375T>C
c.3119T>C (p.Leu1040Pro)
c.635T>C (p.Leu212Pro)
c.530T>C (p.Leu177Pro)
c.10139T>C (p.Leu3380Pro)
c.10073T>C (p.Leu3358Pro)
c.10136T>C (p.Leu3379Pro)
c.10133T>C (p.Leu3378Pro)
c.10079T>C (p.Leu3360Pro)
c.10049T>C (p.Leu3350Pro)
c.10034T>C (p.Leu3345Pro)
c.10004T>C (p.Leu3335Pro)
c.9599T>C (p.Leu3200Pro)
c.8957T>C (p.Leu2986Pro)
c.6467T>C (p.Leu2156Pro)
10g.71815157T>GCA377138684CDH23c.9944T>G (p.Leu3315Arg)
c.3877T>G (n.3877T>G)
c.3436T>G (n.3436T>G)
c.9959T>G (p.Leu3320Arg)
c.3224T>G (p.Leu1075Arg)
n.3375T>G
c.3119T>G (p.Leu1040Arg)
c.635T>G (p.Leu212Arg)
c.530T>G (p.Leu177Arg)
c.10139T>G (p.Leu3380Arg)
c.10073T>G (p.Leu3358Arg)
c.10136T>G (p.Leu3379Arg)
c.10133T>G (p.Leu3378Arg)
c.10079T>G (p.Leu3360Arg)
c.10049T>G (p.Leu3350Arg)
c.10034T>G (p.Leu3345Arg)
c.10004T>G (p.Leu3335Arg)
c.9599T>G (p.Leu3200Arg)
c.8957T>G (p.Leu2986Arg)
c.6467T>G (p.Leu2156Arg)
10g.71815158G>ACA470283327CDH23c.9945G>A (p.Leu3315=)
c.3878G>A (n.3878G>A)
c.3437G>A (n.3437G>A)
c.9960G>A (p.Leu3320=)
c.3225G>A (p.Leu1075=)
n.3376G>A
c.3120G>A (p.Leu1040=)
c.636G>A (p.Leu212=)
c.531G>A (p.Leu177=)
c.10140G>A (p.Leu3380=)
c.10074G>A (p.Leu3358=)
c.10137G>A (p.Leu3379=)
c.10134G>A (p.Leu3378=)
c.10080G>A (p.Leu3360=)
c.10050G>A (p.Leu3350=)
c.10035G>A (p.Leu3345=)
c.10005G>A (p.Leu3335=)
c.9600G>A (p.Leu3200=)
c.8958G>A (p.Leu2986=)
c.6468G>A (p.Leu2156=)
 ClinVar dbSNP gnomAD v4
10g.71815158G>CCA470283328CDH23c.9945G>C (p.Leu3315=)
c.3878G>C (n.3878G>C)
c.3437G>C (n.3437G>C)
c.9960G>C (p.Leu3320=)
c.3225G>C (p.Leu1075=)
n.3376G>C
c.3120G>C (p.Leu1040=)
c.636G>C (p.Leu212=)
c.531G>C (p.Leu177=)
c.10140G>C (p.Leu3380=)
c.10074G>C (p.Leu3358=)
c.10137G>C (p.Leu3379=)
c.10134G>C (p.Leu3378=)
c.10080G>C (p.Leu3360=)
c.10050G>C (p.Leu3350=)
c.10035G>C (p.Leu3345=)
c.10005G>C (p.Leu3335=)
c.9600G>C (p.Leu3200=)
c.8958G>C (p.Leu2986=)
c.6468G>C (p.Leu2156=)
10g.71815158G>TCA470283329CDH23c.9945G>T (p.Leu3315=)
c.3878G>T (n.3878G>T)
c.3437G>T (n.3437G>T)
c.9960G>T (p.Leu3320=)
c.3225G>T (p.Leu1075=)
n.3376G>T
c.3120G>T (p.Leu1040=)
c.636G>T (p.Leu212=)
c.531G>T (p.Leu177=)
c.10140G>T (p.Leu3380=)
c.10074G>T (p.Leu3358=)
c.10137G>T (p.Leu3379=)
c.10134G>T (p.Leu3378=)
c.10080G>T (p.Leu3360=)
c.10050G>T (p.Leu3350=)
c.10035G>T (p.Leu3345=)
c.10005G>T (p.Leu3335=)
c.9600G>T (p.Leu3200=)
c.8958G>T (p.Leu2986=)
c.6468G>T (p.Leu2156=)
10g.71815159A=CA1918895900CDH23c.9946A= (p.Thr3316=)
c.3879A= (n.3879A=)
c.3438A= (n.3438A=)
c.9961A= (p.Thr3321=)
c.3226A= (p.Thr1076=)
n.3377A=
c.3121A= (p.Thr1041=)
c.637A= (p.Thr213=)
c.532A= (p.Thr178=)
c.10141A= (p.Thr3381=)
c.10075A= (p.Thr3359=)
c.10138A= (p.Thr3380=)
c.10135A= (p.Thr3379=)
c.10081A= (p.Thr3361=)
c.10051A= (p.Thr3351=)
c.10036A= (p.Thr3346=)
c.10006A= (p.Thr3336=)
c.9601A= (p.Thr3201=)
c.8959A= (p.Thr2987=)
c.6469A= (p.Thr2157=)
10g.71815159A>CCA377138685CDH23c.9946A>C (p.Thr3316Pro)
c.3879A>C (n.3879A>C)
c.3438A>C (n.3438A>C)
c.9961A>C (p.Thr3321Pro)
c.3226A>C (p.Thr1076Pro)
n.3377A>C
c.3121A>C (p.Thr1041Pro)
c.637A>C (p.Thr213Pro)
c.532A>C (p.Thr178Pro)
c.10141A>C (p.Thr3381Pro)
c.10075A>C (p.Thr3359Pro)
c.10138A>C (p.Thr3380Pro)
c.10135A>C (p.Thr3379Pro)
c.10081A>C (p.Thr3361Pro)
c.10051A>C (p.Thr3351Pro)
c.10036A>C (p.Thr3346Pro)
c.10006A>C (p.Thr3336Pro)
c.9601A>C (p.Thr3201Pro)
c.8959A>C (p.Thr2987Pro)
c.6469A>C (p.Thr2157Pro)
 dbSNP gnomAD v4
10g.71815159A>GCA5547224CDH23c.9946A>G (p.Thr3316Ala)
c.3879A>G (n.3879A>G)
c.3438A>G (n.3438A>G)
c.9961A>G (p.Thr3321Ala)
c.3226A>G (p.Thr1076Ala)
n.3377A>G
c.3121A>G (p.Thr1041Ala)
c.637A>G (p.Thr213Ala)
c.532A>G (p.Thr178Ala)
c.10141A>G (p.Thr3381Ala)
c.10075A>G (p.Thr3359Ala)
c.10138A>G (p.Thr3380Ala)
c.10135A>G (p.Thr3379Ala)
c.10081A>G (p.Thr3361Ala)
c.10051A>G (p.Thr3351Ala)
c.10036A>G (p.Thr3346Ala)
c.10006A>G (p.Thr3336Ala)
c.9601A>G (p.Thr3201Ala)
c.8959A>G (p.Thr2987Ala)
c.6469A>G (p.Thr2157Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71815159A>TCA377138689CDH23c.9946A>T (p.Thr3316Ser)
c.3879A>T (n.3879A>T)
c.3438A>T (n.3438A>T)
c.9961A>T (p.Thr3321Ser)
c.3226A>T (p.Thr1076Ser)
n.3377A>T
c.3121A>T (p.Thr1041Ser)
c.637A>T (p.Thr213Ser)
c.532A>T (p.Thr178Ser)
c.10141A>T (p.Thr3381Ser)
c.10075A>T (p.Thr3359Ser)
c.10138A>T (p.Thr3380Ser)
c.10135A>T (p.Thr3379Ser)
c.10081A>T (p.Thr3361Ser)
c.10051A>T (p.Thr3351Ser)
c.10036A>T (p.Thr3346Ser)
c.10006A>T (p.Thr3336Ser)
c.9601A>T (p.Thr3201Ser)
c.8959A>T (p.Thr2987Ser)
c.6469A>T (p.Thr2157Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71815161_71815175delCA2609588929CDH23c.9948_9962del (p.Ala3317_Thr3321del)
c.3881_3895del (n.3881_3895del)
c.3440_3454del (n.3440_3454del)
c.9963_9977del (p.Ala3322_Thr3326del)
c.3228_3242del (p.Ala1077_Thr1081del)
n.3379_3393del
c.3123_3137del (p.Ala1042_Thr1046del)
c.639_653del (p.Ala214_Thr218del)
c.534_548del (p.Ala179_Thr183del)
c.10143_10157del (p.Ala3382_Thr3386del)
c.10077_10091del (p.Ala3360_Thr3364del)
c.10140_10154del (p.Ala3381_Thr3385del)
c.10137_10151del (p.Ala3380_Thr3384del)
c.10083_10097del (p.Ala3362_Thr3366del)
c.10053_10067del (p.Ala3352_Thr3356del)
c.10038_10052del (p.Ala3347_Thr3351del)
c.10008_10022del (p.Ala3337_Thr3341del)
c.9603_9617del (p.Ala3202_Thr3206del)
c.8961_8975del (p.Ala2988_Thr2992del)
c.6471_6485del (p.Ala2158_Thr2162del)
 gnomAD v4
10g.71815160C>ACA377138692CDH23c.9947C>A (p.Thr3316Asn)
c.3880C>A (n.3880C>A)
c.3439C>A (n.3439C>A)
c.9962C>A (p.Thr3321Asn)
c.3227C>A (p.Thr1076Asn)
n.3378C>A
c.3122C>A (p.Thr1041Asn)
c.638C>A (p.Thr213Asn)
c.533C>A (p.Thr178Asn)
c.10142C>A (p.Thr3381Asn)
c.10076C>A (p.Thr3359Asn)
c.10139C>A (p.Thr3380Asn)
c.10136C>A (p.Thr3379Asn)
c.10082C>A (p.Thr3361Asn)
c.10052C>A (p.Thr3351Asn)
c.10037C>A (p.Thr3346Asn)
c.10007C>A (p.Thr3336Asn)
c.9602C>A (p.Thr3201Asn)
c.8960C>A (p.Thr2987Asn)
c.6470C>A (p.Thr2157Asn)
 dbSNP
10g.71815160C=CA1918895910CDH23c.9947C= (p.Thr3316=)
c.3880C= (n.3880C=)
c.3439C= (n.3439C=)
c.9962C= (p.Thr3321=)
c.3227C= (p.Thr1076=)
n.3378C=
c.3122C= (p.Thr1041=)
c.638C= (p.Thr213=)
c.533C= (p.Thr178=)
c.10142C= (p.Thr3381=)
c.10076C= (p.Thr3359=)
c.10139C= (p.Thr3380=)
c.10136C= (p.Thr3379=)
c.10082C= (p.Thr3361=)
c.10052C= (p.Thr3351=)
c.10037C= (p.Thr3346=)
c.10007C= (p.Thr3336=)
c.9602C= (p.Thr3201=)
c.8960C= (p.Thr2987=)
c.6470C= (p.Thr2157=)
10g.71815160C>GCA377138695CDH23c.9947C>G (p.Thr3316Ser)
c.3880C>G (n.3880C>G)
c.3439C>G (n.3439C>G)
c.9962C>G (p.Thr3321Ser)
c.3227C>G (p.Thr1076Ser)
n.3378C>G
c.3122C>G (p.Thr1041Ser)
c.638C>G (p.Thr213Ser)
c.533C>G (p.Thr178Ser)
c.10142C>G (p.Thr3381Ser)
c.10076C>G (p.Thr3359Ser)
c.10139C>G (p.Thr3380Ser)
c.10136C>G (p.Thr3379Ser)
c.10082C>G (p.Thr3361Ser)
c.10052C>G (p.Thr3351Ser)
c.10037C>G (p.Thr3346Ser)
c.10007C>G (p.Thr3336Ser)
c.9602C>G (p.Thr3201Ser)
c.8960C>G (p.Thr2987Ser)
c.6470C>G (p.Thr2157Ser)
10g.71815160C>TCA10605834CDH23c.9947C>T (p.Thr3316Ile)
c.3880C>T (n.3880C>T)
c.3439C>T (n.3439C>T)
c.9962C>T (p.Thr3321Ile)
c.3227C>T (p.Thr1076Ile)
n.3378C>T
c.3122C>T (p.Thr1041Ile)
c.638C>T (p.Thr213Ile)
c.533C>T (p.Thr178Ile)
c.10142C>T (p.Thr3381Ile)
c.10076C>T (p.Thr3359Ile)
c.10139C>T (p.Thr3380Ile)
c.10136C>T (p.Thr3379Ile)
c.10082C>T (p.Thr3361Ile)
c.10052C>T (p.Thr3351Ile)
c.10037C>T (p.Thr3346Ile)
c.10007C>T (p.Thr3336Ile)
c.9602C>T (p.Thr3201Ile)
c.8960C>T (p.Thr2987Ile)
c.6470C>T (p.Thr2157Ile)
 ClinVar dbSNP gnomAD v4
10g.71815162_71815173dupCA594706304CDH23c.9949_9960dup (p.Ala3320_Thr3321insAlaAlaGluAla)
c.3882_3893dup (n.3882_3893dup)
c.3441_3452dup (n.3441_3452dup)
c.9964_9975dup (p.Ala3325_Thr3326insAlaAlaGluAla)
c.3229_3240dup (p.Ala1080_Thr1081insAlaAlaGluAla)
n.3380_3391dup
c.3124_3135dup (p.Ala1045_Thr1046insAlaAlaGluAla)
c.640_651dup (p.Ala217_Thr218insAlaAlaGluAla)
c.535_546dup (p.Ala182_Thr183insAlaAlaGluAla)
c.10144_10155dup (p.Ala3385_Thr3386insAlaAlaGluAla)
c.10078_10089dup (p.Ala3363_Thr3364insAlaAlaGluAla)
c.10141_10152dup (p.Ala3384_Thr3385insAlaAlaGluAla)
c.10138_10149dup (p.Ala3383_Thr3384insAlaAlaGluAla)
c.10084_10095dup (p.Ala3365_Thr3366insAlaAlaGluAla)
c.10054_10065dup (p.Ala3355_Thr3356insAlaAlaGluAla)
c.10039_10050dup (p.Ala3350_Thr3351insAlaAlaGluAla)
c.10009_10020dup (p.Ala3340_Thr3341insAlaAlaGluAla)
c.9604_9615dup (p.Ala3205_Thr3206insAlaAlaGluAla)
c.8962_8973dup (p.Ala2991_Thr2992insAlaAlaGluAla)
c.6472_6483dup (p.Ala2161_Thr2162insAlaAlaGluAla)
 dbSNP gnomAD v2 gnomAD v4
10g.71815160_71815161insACACA2788486587CDH23c.9947_9948insACA (p.Thr3316_Ala3317insHis)
c.3880_3881insACA (n.3880_3881insACA)
c.3439_3440insACA (n.3439_3440insACA)
c.9962_9963insACA (p.Thr3321_Ala3322insHis)
c.3227_3228insACA (p.Thr1076_Ala1077insHis)
n.3378_3379insACA
c.3122_3123insACA (p.Thr1041_Ala1042insHis)
c.638_639insACA (p.Thr213_Ala214insHis)
c.533_534insACA (p.Thr178_Ala179insHis)
c.10142_10143insACA (p.Thr3381_Ala3382insHis)
c.10076_10077insACA (p.Thr3359_Ala3360insHis)
c.10139_10140insACA (p.Thr3380_Ala3381insHis)
c.10136_10137insACA (p.Thr3379_Ala3380insHis)
c.10082_10083insACA (p.Thr3361_Ala3362insHis)
c.10052_10053insACA (p.Thr3351_Ala3352insHis)
c.10037_10038insACA (p.Thr3346_Ala3347insHis)
c.10007_10008insACA (p.Thr3336_Ala3337insHis)
c.9602_9603insACA (p.Thr3201_Ala3202insHis)
c.8960_8961insACA (p.Thr2987_Ala2988insHis)
c.6470_6471insACA (p.Thr2157_Ala2158insHis)
10g.71815161C>ACA470283331CDH23c.9948C>A (p.Thr3316=)
c.3881C>A (n.3881C>A)
c.3440C>A (n.3440C>A)
c.9963C>A (p.Thr3321=)
c.3228C>A (p.Thr1076=)
n.3379C>A
c.3123C>A (p.Thr1041=)
c.639C>A (p.Thr213=)
c.534C>A (p.Thr178=)
c.10143C>A (p.Thr3381=)
c.10077C>A (p.Thr3359=)
c.10140C>A (p.Thr3380=)
c.10137C>A (p.Thr3379=)
c.10083C>A (p.Thr3361=)
c.10053C>A (p.Thr3351=)
c.10038C>A (p.Thr3346=)
c.10008C>A (p.Thr3336=)
c.9603C>A (p.Thr3201=)
c.8961C>A (p.Thr2987=)
c.6471C>A (p.Thr2157=)
10g.71815161C=CA1918895912CDH23c.9948C= (p.Thr3316=)
c.3881C= (n.3881C=)
c.3440C= (n.3440C=)
c.9963C= (p.Thr3321=)
c.3228C= (p.Thr1076=)
n.3379C=
c.3123C= (p.Thr1041=)
c.639C= (p.Thr213=)
c.534C= (p.Thr178=)
c.10143C= (p.Thr3381=)
c.10077C= (p.Thr3359=)
c.10140C= (p.Thr3380=)
c.10137C= (p.Thr3379=)
c.10083C= (p.Thr3361=)
c.10053C= (p.Thr3351=)
c.10038C= (p.Thr3346=)
c.10008C= (p.Thr3336=)
c.9603C= (p.Thr3201=)
c.8961C= (p.Thr2987=)
c.6471C= (p.Thr2157=)
10g.71815161C>GCA470283332CDH23c.9948C>G (p.Thr3316=)
c.3881C>G (n.3881C>G)
c.3440C>G (n.3440C>G)
c.9963C>G (p.Thr3321=)
c.3228C>G (p.Thr1076=)
n.3379C>G
c.3123C>G (p.Thr1041=)
c.639C>G (p.Thr213=)
c.534C>G (p.Thr178=)
c.10143C>G (p.Thr3381=)
c.10077C>G (p.Thr3359=)
c.10140C>G (p.Thr3380=)
c.10137C>G (p.Thr3379=)
c.10083C>G (p.Thr3361=)
c.10053C>G (p.Thr3351=)
c.10038C>G (p.Thr3346=)
c.10008C>G (p.Thr3336=)
c.9603C>G (p.Thr3201=)
c.8961C>G (p.Thr2987=)
c.6471C>G (p.Thr2157=)
10g.71815161C>TCA5547225CDH23c.9948C>T (p.Thr3316=)
c.3881C>T (n.3881C>T)
c.3440C>T (n.3440C>T)
c.9963C>T (p.Thr3321=)
c.3228C>T (p.Thr1076=)
n.3379C>T
c.3123C>T (p.Thr1041=)
c.639C>T (p.Thr213=)
c.534C>T (p.Thr178=)
c.10143C>T (p.Thr3381=)
c.10077C>T (p.Thr3359=)
c.10140C>T (p.Thr3380=)
c.10137C>T (p.Thr3379=)
c.10083C>T (p.Thr3361=)
c.10053C>T (p.Thr3351=)
c.10038C>T (p.Thr3346=)
c.10008C>T (p.Thr3336=)
c.9603C>T (p.Thr3201=)
c.8961C>T (p.Thr2987=)
c.6471C>T (p.Thr2157=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815162G>ACA5547226CDH23c.9949G>A (p.Ala3317Thr)
c.3882G>A (n.3882G>A)
c.3441G>A (n.3441G>A)
c.9964G>A (p.Ala3322Thr)
c.3229G>A (p.Ala1077Thr)
n.3380G>A
c.3124G>A (p.Ala1042Thr)
c.640G>A (p.Ala214Thr)
c.535G>A (p.Ala179Thr)
c.10144G>A (p.Ala3382Thr)
c.10078G>A (p.Ala3360Thr)
c.10141G>A (p.Ala3381Thr)
c.10138G>A (p.Ala3380Thr)
c.10084G>A (p.Ala3362Thr)
c.10054G>A (p.Ala3352Thr)
c.10039G>A (p.Ala3347Thr)
c.10009G>A (p.Ala3337Thr)
c.9604G>A (p.Ala3202Thr)
c.8962G>A (p.Ala2988Thr)
c.6472G>A (p.Ala2158Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815162G>CCA377138703CDH23c.9949G>C (p.Ala3317Pro)
c.3882G>C (n.3882G>C)
c.3441G>C (n.3441G>C)
c.9964G>C (p.Ala3322Pro)
c.3229G>C (p.Ala1077Pro)
n.3380G>C
c.3124G>C (p.Ala1042Pro)
c.640G>C (p.Ala214Pro)
c.535G>C (p.Ala179Pro)
c.10144G>C (p.Ala3382Pro)
c.10078G>C (p.Ala3360Pro)
c.10141G>C (p.Ala3381Pro)
c.10138G>C (p.Ala3380Pro)
c.10084G>C (p.Ala3362Pro)
c.10054G>C (p.Ala3352Pro)
c.10039G>C (p.Ala3347Pro)
c.10009G>C (p.Ala3337Pro)
c.9604G>C (p.Ala3202Pro)
c.8962G>C (p.Ala2988Pro)
c.6472G>C (p.Ala2158Pro)
 dbSNP
10g.71815162G=CA1918895916CDH23c.9949G= (p.Ala3317=)
c.3882G= (n.3882G=)
c.3441G= (n.3441G=)
c.9964G= (p.Ala3322=)
c.3229G= (p.Ala1077=)
n.3380G=
c.3124G= (p.Ala1042=)
c.640G= (p.Ala214=)
c.535G= (p.Ala179=)
c.10144G= (p.Ala3382=)
c.10078G= (p.Ala3360=)
c.10141G= (p.Ala3381=)
c.10138G= (p.Ala3380=)
c.10084G= (p.Ala3362=)
c.10054G= (p.Ala3352=)
c.10039G= (p.Ala3347=)
c.10009G= (p.Ala3337=)
c.9604G= (p.Ala3202=)
c.8962G= (p.Ala2988=)
c.6472G= (p.Ala2158=)
10g.71815162G>TCA377138708CDH23c.9949G>T (p.Ala3317Ser)
c.3882G>T (n.3882G>T)
c.3441G>T (n.3441G>T)
c.9964G>T (p.Ala3322Ser)
c.3229G>T (p.Ala1077Ser)
n.3380G>T
c.3124G>T (p.Ala1042Ser)
c.640G>T (p.Ala214Ser)
c.535G>T (p.Ala179Ser)
c.10144G>T (p.Ala3382Ser)
c.10078G>T (p.Ala3360Ser)
c.10141G>T (p.Ala3381Ser)
c.10138G>T (p.Ala3380Ser)
c.10084G>T (p.Ala3362Ser)
c.10054G>T (p.Ala3352Ser)
c.10039G>T (p.Ala3347Ser)
c.10009G>T (p.Ala3337Ser)
c.9604G>T (p.Ala3202Ser)
c.8962G>T (p.Ala2988Ser)
c.6472G>T (p.Ala2158Ser)
10g.71815163C>ACA377138709CDH23c.9950C>A (p.Ala3317Asp)
c.3883C>A (n.3883C>A)
c.3442C>A (n.3442C>A)
c.9965C>A (p.Ala3322Asp)
c.3230C>A (p.Ala1077Asp)
n.3381C>A
c.3125C>A (p.Ala1042Asp)
c.641C>A (p.Ala214Asp)
c.536C>A (p.Ala179Asp)
c.10145C>A (p.Ala3382Asp)
c.10079C>A (p.Ala3360Asp)
c.10142C>A (p.Ala3381Asp)
c.10139C>A (p.Ala3380Asp)
c.10085C>A (p.Ala3362Asp)
c.10055C>A (p.Ala3352Asp)
c.10040C>A (p.Ala3347Asp)
c.10010C>A (p.Ala3337Asp)
c.9605C>A (p.Ala3202Asp)
c.8963C>A (p.Ala2988Asp)
c.6473C>A (p.Ala2158Asp)
10g.71815163C=CA1918895918CDH23c.9950C= (p.Ala3317=)
c.3883C= (n.3883C=)
c.3442C= (n.3442C=)
c.9965C= (p.Ala3322=)
c.3230C= (p.Ala1077=)
n.3381C=
c.3125C= (p.Ala1042=)
c.641C= (p.Ala214=)
c.536C= (p.Ala179=)
c.10145C= (p.Ala3382=)
c.10079C= (p.Ala3360=)
c.10142C= (p.Ala3381=)
c.10139C= (p.Ala3380=)
c.10085C= (p.Ala3362=)
c.10055C= (p.Ala3352=)
c.10040C= (p.Ala3347=)
c.10010C= (p.Ala3337=)
c.9605C= (p.Ala3202=)
c.8963C= (p.Ala2988=)
c.6473C= (p.Ala2158=)
10g.71815163C>GCA377138710CDH23c.9950C>G (p.Ala3317Gly)
c.3883C>G (n.3883C>G)
c.3442C>G (n.3442C>G)
c.9965C>G (p.Ala3322Gly)
c.3230C>G (p.Ala1077Gly)
n.3381C>G
c.3125C>G (p.Ala1042Gly)
c.641C>G (p.Ala214Gly)
c.536C>G (p.Ala179Gly)
c.10145C>G (p.Ala3382Gly)
c.10079C>G (p.Ala3360Gly)
c.10142C>G (p.Ala3381Gly)
c.10139C>G (p.Ala3380Gly)
c.10085C>G (p.Ala3362Gly)
c.10055C>G (p.Ala3352Gly)
c.10040C>G (p.Ala3347Gly)
c.10010C>G (p.Ala3337Gly)
c.9605C>G (p.Ala3202Gly)
c.8963C>G (p.Ala2988Gly)
c.6473C>G (p.Ala2158Gly)
10g.71815163C>TCA377138711CDH23c.9950C>T (p.Ala3317Val)
c.3883C>T (n.3883C>T)
c.3442C>T (n.3442C>T)
c.9965C>T (p.Ala3322Val)
c.3230C>T (p.Ala1077Val)
n.3381C>T
c.3125C>T (p.Ala1042Val)
c.641C>T (p.Ala214Val)
c.536C>T (p.Ala179Val)
c.10145C>T (p.Ala3382Val)
c.10079C>T (p.Ala3360Val)
c.10142C>T (p.Ala3381Val)
c.10139C>T (p.Ala3380Val)
c.10085C>T (p.Ala3362Val)
c.10055C>T (p.Ala3352Val)
c.10040C>T (p.Ala3347Val)
c.10010C>T (p.Ala3337Val)
c.9605C>T (p.Ala3202Val)
c.8963C>T (p.Ala2988Val)
c.6473C>T (p.Ala2158Val)
 dbSNP
10g.71815164T>ACA470283333CDH23c.9951T>A (p.Ala3317=)
c.3884T>A (n.3884T>A)
c.3443T>A (n.3443T>A)
c.9966T>A (p.Ala3322=)
c.3231T>A (p.Ala1077=)
n.3382T>A
c.3126T>A (p.Ala1042=)
c.642T>A (p.Ala214=)
c.537T>A (p.Ala179=)
c.10146T>A (p.Ala3382=)
c.10080T>A (p.Ala3360=)
c.10143T>A (p.Ala3381=)
c.10140T>A (p.Ala3380=)
c.10086T>A (p.Ala3362=)
c.10056T>A (p.Ala3352=)
c.10041T>A (p.Ala3347=)
c.10011T>A (p.Ala3337=)
c.9606T>A (p.Ala3202=)
c.8964T>A (p.Ala2988=)
c.6474T>A (p.Ala2158=)
 ClinVar dbSNP
10g.71815164T>CCA470283335CDH23c.9951T>C (p.Ala3317=)
c.3884T>C (n.3884T>C)
c.3443T>C (n.3443T>C)
c.9966T>C (p.Ala3322=)
c.3231T>C (p.Ala1077=)
n.3382T>C
c.3126T>C (p.Ala1042=)
c.642T>C (p.Ala214=)
c.537T>C (p.Ala179=)
c.10146T>C (p.Ala3382=)
c.10080T>C (p.Ala3360=)
c.10143T>C (p.Ala3381=)
c.10140T>C (p.Ala3380=)
c.10086T>C (p.Ala3362=)
c.10056T>C (p.Ala3352=)
c.10041T>C (p.Ala3347=)
c.10011T>C (p.Ala3337=)
c.9606T>C (p.Ala3202=)
c.8964T>C (p.Ala2988=)
c.6474T>C (p.Ala2158=)
10g.71815164T>GCA470283334CDH23c.9951T>G (p.Ala3317=)
c.3884T>G (n.3884T>G)
c.3443T>G (n.3443T>G)
c.9966T>G (p.Ala3322=)
c.3231T>G (p.Ala1077=)
n.3382T>G
c.3126T>G (p.Ala1042=)
c.642T>G (p.Ala214=)
c.537T>G (p.Ala179=)
c.10146T>G (p.Ala3382=)
c.10080T>G (p.Ala3360=)
c.10143T>G (p.Ala3381=)
c.10140T>G (p.Ala3380=)
c.10086T>G (p.Ala3362=)
c.10056T>G (p.Ala3352=)
c.10041T>G (p.Ala3347=)
c.10011T>G (p.Ala3337=)
c.9606T>G (p.Ala3202=)
c.8964T>G (p.Ala2988=)
c.6474T>G (p.Ala2158=)
10g.71815164T=CA1918895921CDH23c.9951T= (p.Ala3317=)
c.3884T= (n.3884T=)
c.3443T= (n.3443T=)
c.9966T= (p.Ala3322=)
c.3231T= (p.Ala1077=)
n.3382T=
c.3126T= (p.Ala1042=)
c.642T= (p.Ala214=)
c.537T= (p.Ala179=)
c.10146T= (p.Ala3382=)
c.10080T= (p.Ala3360=)
c.10143T= (p.Ala3381=)
c.10140T= (p.Ala3380=)
c.10086T= (p.Ala3362=)
c.10056T= (p.Ala3352=)
c.10041T= (p.Ala3347=)
c.10011T= (p.Ala3337=)
c.9606T= (p.Ala3202=)
c.8964T= (p.Ala2988=)
c.6474T= (p.Ala2158=)
10g.71815165G>ACA377138712CDH23c.9952G>A (p.Ala3318Thr)
c.3885G>A (n.3885G>A)
c.3444G>A (n.3444G>A)
c.9967G>A (p.Ala3323Thr)
c.3232G>A (p.Ala1078Thr)
n.3383G>A
c.3127G>A (p.Ala1043Thr)
c.643G>A (p.Ala215Thr)
c.538G>A (p.Ala180Thr)
c.10147G>A (p.Ala3383Thr)
c.10081G>A (p.Ala3361Thr)
c.10144G>A (p.Ala3382Thr)
c.10141G>A (p.Ala3381Thr)
c.10087G>A (p.Ala3363Thr)
c.10057G>A (p.Ala3353Thr)
c.10042G>A (p.Ala3348Thr)
c.10012G>A (p.Ala3338Thr)
c.9607G>A (p.Ala3203Thr)
c.8965G>A (p.Ala2989Thr)
c.6475G>A (p.Ala2159Thr)
 dbSNP
10g.71815165G>CCA377138714CDH23c.9952G>C (p.Ala3318Pro)
c.3885G>C (n.3885G>C)
c.3444G>C (n.3444G>C)
c.9967G>C (p.Ala3323Pro)
c.3232G>C (p.Ala1078Pro)
n.3383G>C
c.3127G>C (p.Ala1043Pro)
c.643G>C (p.Ala215Pro)
c.538G>C (p.Ala180Pro)
c.10147G>C (p.Ala3383Pro)
c.10081G>C (p.Ala3361Pro)
c.10144G>C (p.Ala3382Pro)
c.10141G>C (p.Ala3381Pro)
c.10087G>C (p.Ala3363Pro)
c.10057G>C (p.Ala3353Pro)
c.10042G>C (p.Ala3348Pro)
c.10012G>C (p.Ala3338Pro)
c.9607G>C (p.Ala3203Pro)
c.8965G>C (p.Ala2989Pro)
c.6475G>C (p.Ala2159Pro)
 dbSNP
10g.71815165G>TCA377138713CDH23c.9952G>T (p.Ala3318Ser)
c.3885G>T (n.3885G>T)
c.3444G>T (n.3444G>T)
c.9967G>T (p.Ala3323Ser)
c.3232G>T (p.Ala1078Ser)
n.3383G>T
c.3127G>T (p.Ala1043Ser)
c.643G>T (p.Ala215Ser)
c.538G>T (p.Ala180Ser)
c.10147G>T (p.Ala3383Ser)
c.10081G>T (p.Ala3361Ser)
c.10144G>T (p.Ala3382Ser)
c.10141G>T (p.Ala3381Ser)
c.10087G>T (p.Ala3363Ser)
c.10057G>T (p.Ala3353Ser)
c.10042G>T (p.Ala3348Ser)
c.10012G>T (p.Ala3338Ser)
c.9607G>T (p.Ala3203Ser)
c.8965G>T (p.Ala2989Ser)
c.6475G>T (p.Ala2159Ser)
10g.71815166C>ACA377138715CDH23c.9953C>A (p.Ala3318Asp)
c.3886C>A (n.3886C>A)
c.3445C>A (n.3445C>A)
c.9968C>A (p.Ala3323Asp)
c.3233C>A (p.Ala1078Asp)
n.3384C>A
c.3128C>A (p.Ala1043Asp)
c.644C>A (p.Ala215Asp)
c.539C>A (p.Ala180Asp)
c.10148C>A (p.Ala3383Asp)
c.10082C>A (p.Ala3361Asp)
c.10145C>A (p.Ala3382Asp)
c.10142C>A (p.Ala3381Asp)
c.10088C>A (p.Ala3363Asp)
c.10058C>A (p.Ala3353Asp)
c.10043C>A (p.Ala3348Asp)
c.10013C>A (p.Ala3338Asp)
c.9608C>A (p.Ala3203Asp)
c.8966C>A (p.Ala2989Asp)
c.6476C>A (p.Ala2159Asp)
10g.71815166C>GCA377138716CDH23c.9953C>G (p.Ala3318Gly)
c.3886C>G (n.3886C>G)
c.3445C>G (n.3445C>G)
c.9968C>G (p.Ala3323Gly)
c.3233C>G (p.Ala1078Gly)
n.3384C>G
c.3128C>G (p.Ala1043Gly)
c.644C>G (p.Ala215Gly)
c.539C>G (p.Ala180Gly)
c.10148C>G (p.Ala3383Gly)
c.10082C>G (p.Ala3361Gly)
c.10145C>G (p.Ala3382Gly)
c.10142C>G (p.Ala3381Gly)
c.10088C>G (p.Ala3363Gly)
c.10058C>G (p.Ala3353Gly)
c.10043C>G (p.Ala3348Gly)
c.10013C>G (p.Ala3338Gly)
c.9608C>G (p.Ala3203Gly)
c.8966C>G (p.Ala2989Gly)
c.6476C>G (p.Ala2159Gly)
10g.71815166C>TCA377138718CDH23c.9953C>T (p.Ala3318Val)
c.3886C>T (n.3886C>T)
c.3445C>T (n.3445C>T)
c.9968C>T (p.Ala3323Val)
c.3233C>T (p.Ala1078Val)
n.3384C>T
c.3128C>T (p.Ala1043Val)
c.644C>T (p.Ala215Val)
c.539C>T (p.Ala180Val)
c.10148C>T (p.Ala3383Val)
c.10082C>T (p.Ala3361Val)
c.10145C>T (p.Ala3382Val)
c.10142C>T (p.Ala3381Val)
c.10088C>T (p.Ala3363Val)
c.10058C>T (p.Ala3353Val)
c.10043C>T (p.Ala3348Val)
c.10013C>T (p.Ala3338Val)
c.9608C>T (p.Ala3203Val)
c.8966C>T (p.Ala2989Val)
c.6476C>T (p.Ala2159Val)
 dbSNP
10g.71815167C>ACA470283337CDH23c.9954C>A (p.Ala3318=)
c.3887C>A (n.3887C>A)
c.3446C>A (n.3446C>A)
c.9969C>A (p.Ala3323=)
c.3234C>A (p.Ala1078=)
n.3385C>A
c.3129C>A (p.Ala1043=)
c.645C>A (p.Ala215=)
c.540C>A (p.Ala180=)
c.10149C>A (p.Ala3383=)
c.10083C>A (p.Ala3361=)
c.10146C>A (p.Ala3382=)
c.10143C>A (p.Ala3381=)
c.10089C>A (p.Ala3363=)
c.10059C>A (p.Ala3353=)
c.10044C>A (p.Ala3348=)
c.10014C>A (p.Ala3338=)
c.9609C>A (p.Ala3203=)
c.8967C>A (p.Ala2989=)
c.6477C>A (p.Ala2159=)
 gnomAD v4
10g.71815167C=CA1918895925CDH23c.9954C= (p.Ala3318=)
c.3887C= (n.3887C=)
c.3446C= (n.3446C=)
c.9969C= (p.Ala3323=)
c.3234C= (p.Ala1078=)
n.3385C=
c.3129C= (p.Ala1043=)
c.645C= (p.Ala215=)
c.540C= (p.Ala180=)
c.10149C= (p.Ala3383=)
c.10083C= (p.Ala3361=)
c.10146C= (p.Ala3382=)
c.10143C= (p.Ala3381=)
c.10089C= (p.Ala3363=)
c.10059C= (p.Ala3353=)
c.10044C= (p.Ala3348=)
c.10014C= (p.Ala3338=)
c.9609C= (p.Ala3203=)
c.8967C= (p.Ala2989=)
c.6477C= (p.Ala2159=)
10g.71815167C>GCA470283336CDH23c.9954C>G (p.Ala3318=)
c.3887C>G (n.3887C>G)
c.3446C>G (n.3446C>G)
c.9969C>G (p.Ala3323=)
c.3234C>G (p.Ala1078=)
n.3385C>G
c.3129C>G (p.Ala1043=)
c.645C>G (p.Ala215=)
c.540C>G (p.Ala180=)
c.10149C>G (p.Ala3383=)
c.10083C>G (p.Ala3361=)
c.10146C>G (p.Ala3382=)
c.10143C>G (p.Ala3381=)
c.10089C>G (p.Ala3363=)
c.10059C>G (p.Ala3353=)
c.10044C>G (p.Ala3348=)
c.10014C>G (p.Ala3338=)
c.9609C>G (p.Ala3203=)
c.8967C>G (p.Ala2989=)
c.6477C>G (p.Ala2159=)
 ClinVar gnomAD v4
10g.71815167C>TCA5547227CDH23c.9954C>T (p.Ala3318=)
c.3887C>T (n.3887C>T)
c.3446C>T (n.3446C>T)
c.9969C>T (p.Ala3323=)
c.3234C>T (p.Ala1078=)
n.3385C>T
c.3129C>T (p.Ala1043=)
c.645C>T (p.Ala215=)
c.540C>T (p.Ala180=)
c.10149C>T (p.Ala3383=)
c.10083C>T (p.Ala3361=)
c.10146C>T (p.Ala3382=)
c.10143C>T (p.Ala3381=)
c.10089C>T (p.Ala3363=)
c.10059C>T (p.Ala3353=)
c.10044C>T (p.Ala3348=)
c.10014C>T (p.Ala3338=)
c.9609C>T (p.Ala3203=)
c.8967C>T (p.Ala2989=)
c.6477C>T (p.Ala2159=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815167_71815168insACACA2788486589CDH23c.9954_9955insACA (p.Ala3318_Glu3319insThr)
c.3887_3888insACA (n.3887_3888insACA)
c.3446_3447insACA (n.3446_3447insACA)
c.9969_9970insACA (p.Ala3323_Glu3324insThr)
c.3234_3235insACA (p.Ala1078_Glu1079insThr)
n.3385_3386insACA
c.3129_3130insACA (p.Ala1043_Glu1044insThr)
c.645_646insACA (p.Ala215_Glu216insThr)
c.540_541insACA (p.Ala180_Glu181insThr)
c.10149_10150insACA (p.Ala3383_Glu3384insThr)
c.10083_10084insACA (p.Ala3361_Glu3362insThr)
c.10146_10147insACA (p.Ala3382_Glu3383insThr)
c.10143_10144insACA (p.Ala3381_Glu3382insThr)
c.10089_10090insACA (p.Ala3363_Glu3364insThr)
c.10059_10060insACA (p.Ala3353_Glu3354insThr)
c.10044_10045insACA (p.Ala3348_Glu3349insThr)
c.10014_10015insACA (p.Ala3338_Glu3339insThr)
c.9609_9610insACA (p.Ala3203_Glu3204insThr)
c.8967_8968insACA (p.Ala2989_Glu2990insThr)
c.6477_6478insACA (p.Ala2159_Glu2160insThr)
10g.71815168G>ACA5547228CDH23c.9955G>A (p.Glu3319Lys)
c.3888G>A (n.3888G>A)
c.3447G>A (n.3447G>A)
c.9970G>A (p.Glu3324Lys)
c.3235G>A (p.Glu1079Lys)
n.3386G>A
c.3130G>A (p.Glu1044Lys)
c.646G>A (p.Glu216Lys)
c.541G>A (p.Glu181Lys)
c.10150G>A (p.Glu3384Lys)
c.10084G>A (p.Glu3362Lys)
c.10147G>A (p.Glu3383Lys)
c.10144G>A (p.Glu3382Lys)
c.10090G>A (p.Glu3364Lys)
c.10060G>A (p.Glu3354Lys)
c.10045G>A (p.Glu3349Lys)
c.10015G>A (p.Glu3339Lys)
c.9610G>A (p.Glu3204Lys)
c.8968G>A (p.Glu2990Lys)
c.6478G>A (p.Glu2160Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71815168G>CCA377138722CDH23c.9955G>C (p.Glu3319Gln)
c.3888G>C (n.3888G>C)
c.3447G>C (n.3447G>C)
c.9970G>C (p.Glu3324Gln)
c.3235G>C (p.Glu1079Gln)
n.3386G>C
c.3130G>C (p.Glu1044Gln)
c.646G>C (p.Glu216Gln)
c.541G>C (p.Glu181Gln)
c.10150G>C (p.Glu3384Gln)
c.10084G>C (p.Glu3362Gln)
c.10147G>C (p.Glu3383Gln)
c.10144G>C (p.Glu3382Gln)
c.10090G>C (p.Glu3364Gln)
c.10060G>C (p.Glu3354Gln)
c.10045G>C (p.Glu3349Gln)
c.10015G>C (p.Glu3339Gln)
c.9610G>C (p.Glu3204Gln)
c.8968G>C (p.Glu2990Gln)
c.6478G>C (p.Glu2160Gln)
10g.71815168G=CA1918895931CDH23c.9955G= (p.Glu3319=)
c.3888G= (n.3888G=)
c.3447G= (n.3447G=)
c.9970G= (p.Glu3324=)
c.3235G= (p.Glu1079=)
n.3386G=
c.3130G= (p.Glu1044=)
c.646G= (p.Glu216=)
c.541G= (p.Glu181=)
c.10150G= (p.Glu3384=)
c.10084G= (p.Glu3362=)
c.10147G= (p.Glu3383=)
c.10144G= (p.Glu3382=)
c.10090G= (p.Glu3364=)
c.10060G= (p.Glu3354=)
c.10045G= (p.Glu3349=)
c.10015G= (p.Glu3339=)
c.9610G= (p.Glu3204=)
c.8968G= (p.Glu2990=)
c.6478G= (p.Glu2160=)
10g.71815168G>TCA377138721CDH23c.9955G>T (p.Glu3319Ter)
c.3888G>T (n.3888G>T)
c.3447G>T (n.3447G>T)
c.9970G>T (p.Glu3324Ter)
c.3235G>T (p.Glu1079Ter)
n.3386G>T
c.3130G>T (p.Glu1044Ter)
c.646G>T (p.Glu216Ter)
c.541G>T (p.Glu181Ter)
c.10150G>T (p.Glu3384Ter)
c.10084G>T (p.Glu3362Ter)
c.10147G>T (p.Glu3383Ter)
c.10144G>T (p.Glu3382Ter)
c.10090G>T (p.Glu3364Ter)
c.10060G>T (p.Glu3354Ter)
c.10045G>T (p.Glu3349Ter)
c.10015G>T (p.Glu3339Ter)
c.9610G>T (p.Glu3204Ter)
c.8968G>T (p.Glu2990Ter)
c.6478G>T (p.Glu2160Ter)
10g.71815169A>CCA377138723CDH23c.9956A>C (p.Glu3319Ala)
c.3889A>C (n.3889A>C)
c.3448A>C (n.3448A>C)
c.9971A>C (p.Glu3324Ala)
c.3236A>C (p.Glu1079Ala)
n.3387A>C
c.3131A>C (p.Glu1044Ala)
c.647A>C (p.Glu216Ala)
c.542A>C (p.Glu181Ala)
c.10151A>C (p.Glu3384Ala)
c.10085A>C (p.Glu3362Ala)
c.10148A>C (p.Glu3383Ala)
c.10145A>C (p.Glu3382Ala)
c.10091A>C (p.Glu3364Ala)
c.10061A>C (p.Glu3354Ala)
c.10046A>C (p.Glu3349Ala)
c.10016A>C (p.Glu3339Ala)
c.9611A>C (p.Glu3204Ala)
c.8969A>C (p.Glu2990Ala)
c.6479A>C (p.Glu2160Ala)
10g.71815169A>GCA377138724CDH23c.9956A>G (p.Glu3319Gly)
c.3889A>G (n.3889A>G)
c.3448A>G (n.3448A>G)
c.9971A>G (p.Glu3324Gly)
c.3236A>G (p.Glu1079Gly)
n.3387A>G
c.3131A>G (p.Glu1044Gly)
c.647A>G (p.Glu216Gly)
c.542A>G (p.Glu181Gly)
c.10151A>G (p.Glu3384Gly)
c.10085A>G (p.Glu3362Gly)
c.10148A>G (p.Glu3383Gly)
c.10145A>G (p.Glu3382Gly)
c.10091A>G (p.Glu3364Gly)
c.10061A>G (p.Glu3354Gly)
c.10046A>G (p.Glu3349Gly)
c.10016A>G (p.Glu3339Gly)
c.9611A>G (p.Glu3204Gly)
c.8969A>G (p.Glu2990Gly)
c.6479A>G (p.Glu2160Gly)
 dbSNP
10g.71815169A>TCA377138725CDH23c.9956A>T (p.Glu3319Val)
c.3889A>T (n.3889A>T)
c.3448A>T (n.3448A>T)
c.9971A>T (p.Glu3324Val)
c.3236A>T (p.Glu1079Val)
n.3387A>T
c.3131A>T (p.Glu1044Val)
c.647A>T (p.Glu216Val)
c.542A>T (p.Glu181Val)
c.10151A>T (p.Glu3384Val)
c.10085A>T (p.Glu3362Val)
c.10148A>T (p.Glu3383Val)
c.10145A>T (p.Glu3382Val)
c.10091A>T (p.Glu3364Val)
c.10061A>T (p.Glu3354Val)
c.10046A>T (p.Glu3349Val)
c.10016A>T (p.Glu3339Val)
c.9611A>T (p.Glu3204Val)
c.8969A>T (p.Glu2990Val)
c.6479A>T (p.Glu2160Val)
 dbSNP
10g.71815170G>ACA470283338CDH23c.9957G>A (p.Glu3319=)
c.3890G>A (n.3890G>A)
c.3449G>A (n.3449G>A)
c.9972G>A (p.Glu3324=)
c.3237G>A (p.Glu1079=)
n.3388G>A
c.3132G>A (p.Glu1044=)
c.648G>A (p.Glu216=)
c.543G>A (p.Glu181=)
c.10152G>A (p.Glu3384=)
c.10086G>A (p.Glu3362=)
c.10149G>A (p.Glu3383=)
c.10146G>A (p.Glu3382=)
c.10092G>A (p.Glu3364=)
c.10062G>A (p.Glu3354=)
c.10047G>A (p.Glu3349=)
c.10017G>A (p.Glu3339=)
c.9612G>A (p.Glu3204=)
c.8970G>A (p.Glu2990=)
c.6480G>A (p.Glu2160=)
10g.71815170G>CCA377138727CDH23c.9957G>C (p.Glu3319Asp)
c.3890G>C (n.3890G>C)
c.3449G>C (n.3449G>C)
c.9972G>C (p.Glu3324Asp)
c.3237G>C (p.Glu1079Asp)
n.3388G>C
c.3132G>C (p.Glu1044Asp)
c.648G>C (p.Glu216Asp)
c.543G>C (p.Glu181Asp)
c.10152G>C (p.Glu3384Asp)
c.10086G>C (p.Glu3362Asp)
c.10149G>C (p.Glu3383Asp)
c.10146G>C (p.Glu3382Asp)
c.10092G>C (p.Glu3364Asp)
c.10062G>C (p.Glu3354Asp)
c.10047G>C (p.Glu3349Asp)
c.10017G>C (p.Glu3339Asp)
c.9612G>C (p.Glu3204Asp)
c.8970G>C (p.Glu2990Asp)
c.6480G>C (p.Glu2160Asp)
 dbSNP COSMIC
10g.71815170G>TCA377138730CDH23c.9957G>T (p.Glu3319Asp)
c.3890G>T (n.3890G>T)
c.3449G>T (n.3449G>T)
c.9972G>T (p.Glu3324Asp)
c.3237G>T (p.Glu1079Asp)
n.3388G>T
c.3132G>T (p.Glu1044Asp)
c.648G>T (p.Glu216Asp)
c.543G>T (p.Glu181Asp)
c.10152G>T (p.Glu3384Asp)
c.10086G>T (p.Glu3362Asp)
c.10149G>T (p.Glu3383Asp)
c.10146G>T (p.Glu3382Asp)
c.10092G>T (p.Glu3364Asp)
c.10062G>T (p.Glu3354Asp)
c.10047G>T (p.Glu3349Asp)
c.10017G>T (p.Glu3339Asp)
c.9612G>T (p.Glu3204Asp)
c.8970G>T (p.Glu2990Asp)
c.6480G>T (p.Glu2160Asp)
10g.71815171G>ACA377138732CDH23c.9958G>A (p.Ala3320Thr)
c.3891G>A (n.3891G>A)
c.3450G>A (n.3450G>A)
c.9973G>A (p.Ala3325Thr)
c.3238G>A (p.Ala1080Thr)
n.3389G>A
c.3133G>A (p.Ala1045Thr)
c.649G>A (p.Ala217Thr)
c.544G>A (p.Ala182Thr)
c.10153G>A (p.Ala3385Thr)
c.10087G>A (p.Ala3363Thr)
c.10150G>A (p.Ala3384Thr)
c.10147G>A (p.Ala3383Thr)
c.10093G>A (p.Ala3365Thr)
c.10063G>A (p.Ala3355Thr)
c.10048G>A (p.Ala3350Thr)
c.10018G>A (p.Ala3340Thr)
c.9613G>A (p.Ala3205Thr)
c.8971G>A (p.Ala2991Thr)
c.6481G>A (p.Ala2161Thr)
 ClinVar dbSNP
10g.71815171G>CCA377138733CDH23c.9958G>C (p.Ala3320Pro)
c.3891G>C (n.3891G>C)
c.3450G>C (n.3450G>C)
c.9973G>C (p.Ala3325Pro)
c.3238G>C (p.Ala1080Pro)
n.3389G>C
c.3133G>C (p.Ala1045Pro)
c.649G>C (p.Ala217Pro)
c.544G>C (p.Ala182Pro)
c.10153G>C (p.Ala3385Pro)
c.10087G>C (p.Ala3363Pro)
c.10150G>C (p.Ala3384Pro)
c.10147G>C (p.Ala3383Pro)
c.10093G>C (p.Ala3365Pro)
c.10063G>C (p.Ala3355Pro)
c.10048G>C (p.Ala3350Pro)
c.10018G>C (p.Ala3340Pro)
c.9613G>C (p.Ala3205Pro)
c.8971G>C (p.Ala2991Pro)
c.6481G>C (p.Ala2161Pro)
10g.71815171G>TCA377138736CDH23c.9958G>T (p.Ala3320Ser)
c.3891G>T (n.3891G>T)
c.3450G>T (n.3450G>T)
c.9973G>T (p.Ala3325Ser)
c.3238G>T (p.Ala1080Ser)
n.3389G>T
c.3133G>T (p.Ala1045Ser)
c.649G>T (p.Ala217Ser)
c.544G>T (p.Ala182Ser)
c.10153G>T (p.Ala3385Ser)
c.10087G>T (p.Ala3363Ser)
c.10150G>T (p.Ala3384Ser)
c.10147G>T (p.Ala3383Ser)
c.10093G>T (p.Ala3365Ser)
c.10063G>T (p.Ala3355Ser)
c.10048G>T (p.Ala3350Ser)
c.10018G>T (p.Ala3340Ser)
c.9613G>T (p.Ala3205Ser)
c.8971G>T (p.Ala2991Ser)
c.6481G>T (p.Ala2161Ser)
10g.71815172C>ACA377138739CDH23c.9959C>A (p.Ala3320Asp)
c.3892C>A (n.3892C>A)
c.3451C>A (n.3451C>A)
c.9974C>A (p.Ala3325Asp)
c.3239C>A (p.Ala1080Asp)
n.3390C>A
c.3134C>A (p.Ala1045Asp)
c.650C>A (p.Ala217Asp)
c.545C>A (p.Ala182Asp)
c.10154C>A (p.Ala3385Asp)
c.10088C>A (p.Ala3363Asp)
c.10151C>A (p.Ala3384Asp)
c.10148C>A (p.Ala3383Asp)
c.10094C>A (p.Ala3365Asp)
c.10064C>A (p.Ala3355Asp)
c.10049C>A (p.Ala3350Asp)
c.10019C>A (p.Ala3340Asp)
c.9614C>A (p.Ala3205Asp)
c.8972C>A (p.Ala2991Asp)
c.6482C>A (p.Ala2161Asp)
10g.71815172C=CA1918895940CDH23c.9959C= (p.Ala3320=)
c.3892C= (n.3892C=)
c.3451C= (n.3451C=)
c.9974C= (p.Ala3325=)
c.3239C= (p.Ala1080=)
n.3390C=
c.3134C= (p.Ala1045=)
c.650C= (p.Ala217=)
c.545C= (p.Ala182=)
c.10154C= (p.Ala3385=)
c.10088C= (p.Ala3363=)
c.10151C= (p.Ala3384=)
c.10148C= (p.Ala3383=)
c.10094C= (p.Ala3365=)
c.10064C= (p.Ala3355=)
c.10049C= (p.Ala3350=)
c.10019C= (p.Ala3340=)
c.9614C= (p.Ala3205=)
c.8972C= (p.Ala2991=)
c.6482C= (p.Ala2161=)
10g.71815172C>GCA377138741CDH23c.9959C>G (p.Ala3320Gly)
c.3892C>G (n.3892C>G)
c.3451C>G (n.3451C>G)
c.9974C>G (p.Ala3325Gly)
c.3239C>G (p.Ala1080Gly)
n.3390C>G
c.3134C>G (p.Ala1045Gly)
c.650C>G (p.Ala217Gly)
c.545C>G (p.Ala182Gly)
c.10154C>G (p.Ala3385Gly)
c.10088C>G (p.Ala3363Gly)
c.10151C>G (p.Ala3384Gly)
c.10148C>G (p.Ala3383Gly)
c.10094C>G (p.Ala3365Gly)
c.10064C>G (p.Ala3355Gly)
c.10049C>G (p.Ala3350Gly)
c.10019C>G (p.Ala3340Gly)
c.9614C>G (p.Ala3205Gly)
c.8972C>G (p.Ala2991Gly)
c.6482C>G (p.Ala2161Gly)
 dbSNP gnomAD v4
10g.71815172C>TCA377138743CDH23c.9959C>T (p.Ala3320Val)
c.3892C>T (n.3892C>T)
c.3451C>T (n.3451C>T)
c.9974C>T (p.Ala3325Val)
c.3239C>T (p.Ala1080Val)
n.3390C>T
c.3134C>T (p.Ala1045Val)
c.650C>T (p.Ala217Val)
c.545C>T (p.Ala182Val)
c.10154C>T (p.Ala3385Val)
c.10088C>T (p.Ala3363Val)
c.10151C>T (p.Ala3384Val)
c.10148C>T (p.Ala3383Val)
c.10094C>T (p.Ala3365Val)
c.10064C>T (p.Ala3355Val)
c.10049C>T (p.Ala3350Val)
c.10019C>T (p.Ala3340Val)
c.9614C>T (p.Ala3205Val)
c.8972C>T (p.Ala2991Val)
c.6482C>T (p.Ala2161Val)
 dbSNP gnomAD v4
10g.71815173C>ACA470283340CDH23c.9960C>A (p.Ala3320=)
c.3893C>A (n.3893C>A)
c.3452C>A (n.3452C>A)
c.9975C>A (p.Ala3325=)
c.3240C>A (p.Ala1080=)
n.3391C>A
c.3135C>A (p.Ala1045=)
c.651C>A (p.Ala217=)
c.546C>A (p.Ala182=)
c.10155C>A (p.Ala3385=)
c.10089C>A (p.Ala3363=)
c.10152C>A (p.Ala3384=)
c.10149C>A (p.Ala3383=)
c.10095C>A (p.Ala3365=)
c.10065C>A (p.Ala3355=)
c.10050C>A (p.Ala3350=)
c.10020C>A (p.Ala3340=)
c.9615C>A (p.Ala3205=)
c.8973C>A (p.Ala2991=)
c.6483C>A (p.Ala2161=)
 gnomAD v4
10g.71815173C>GCA470283341CDH23c.9960C>G (p.Ala3320=)
c.3893C>G (n.3893C>G)
c.3452C>G (n.3452C>G)
c.9975C>G (p.Ala3325=)
c.3240C>G (p.Ala1080=)
n.3391C>G
c.3135C>G (p.Ala1045=)
c.651C>G (p.Ala217=)
c.546C>G (p.Ala182=)
c.10155C>G (p.Ala3385=)
c.10089C>G (p.Ala3363=)
c.10152C>G (p.Ala3384=)
c.10149C>G (p.Ala3383=)
c.10095C>G (p.Ala3365=)
c.10065C>G (p.Ala3355=)
c.10050C>G (p.Ala3350=)
c.10020C>G (p.Ala3340=)
c.9615C>G (p.Ala3205=)
c.8973C>G (p.Ala2991=)
c.6483C>G (p.Ala2161=)
10g.71815173C>TCA470283342CDH23c.9960C>T (p.Ala3320=)
c.3893C>T (n.3893C>T)
c.3452C>T (n.3452C>T)
c.9975C>T (p.Ala3325=)
c.3240C>T (p.Ala1080=)
n.3391C>T
c.3135C>T (p.Ala1045=)
c.651C>T (p.Ala217=)
c.546C>T (p.Ala182=)
c.10155C>T (p.Ala3385=)
c.10089C>T (p.Ala3363=)
c.10152C>T (p.Ala3384=)
c.10149C>T (p.Ala3383=)
c.10095C>T (p.Ala3365=)
c.10065C>T (p.Ala3355=)
c.10050C>T (p.Ala3350=)
c.10020C>T (p.Ala3340=)
c.9615C>T (p.Ala3205=)
c.8973C>T (p.Ala2991=)
c.6483C>T (p.Ala2161=)
 gnomAD v4
10g.71815174A>CCA377138755CDH23c.9961A>C (p.Thr3321Pro)
c.3894A>C (n.3894A>C)
c.3453A>C (n.3453A>C)
c.9976A>C (p.Thr3326Pro)
c.3241A>C (p.Thr1081Pro)
n.3392A>C
c.3136A>C (p.Thr1046Pro)
c.652A>C (p.Thr218Pro)
c.547A>C (p.Thr183Pro)
c.10156A>C (p.Thr3386Pro)
c.10090A>C (p.Thr3364Pro)
c.10153A>C (p.Thr3385Pro)
c.10150A>C (p.Thr3384Pro)
c.10096A>C (p.Thr3366Pro)
c.10066A>C (p.Thr3356Pro)
c.10051A>C (p.Thr3351Pro)
c.10021A>C (p.Thr3341Pro)
c.9616A>C (p.Thr3206Pro)
c.8974A>C (p.Thr2992Pro)
c.6484A>C (p.Thr2162Pro)
 dbSNP
10g.71815174A>GCA377138757CDH23c.9961A>G (p.Thr3321Ala)
c.3894A>G (n.3894A>G)
c.3453A>G (n.3453A>G)
c.9976A>G (p.Thr3326Ala)
c.3241A>G (p.Thr1081Ala)
n.3392A>G
c.3136A>G (p.Thr1046Ala)
c.652A>G (p.Thr218Ala)
c.547A>G (p.Thr183Ala)
c.10156A>G (p.Thr3386Ala)
c.10090A>G (p.Thr3364Ala)
c.10153A>G (p.Thr3385Ala)
c.10150A>G (p.Thr3384Ala)
c.10096A>G (p.Thr3366Ala)
c.10066A>G (p.Thr3356Ala)
c.10051A>G (p.Thr3351Ala)
c.10021A>G (p.Thr3341Ala)
c.9616A>G (p.Thr3206Ala)
c.8974A>G (p.Thr2992Ala)
c.6484A>G (p.Thr2162Ala)
 gnomAD v4
10g.71815174A>TCA377138746CDH23c.9961A>T (p.Thr3321Ser)
c.3894A>T (n.3894A>T)
c.3453A>T (n.3453A>T)
c.9976A>T (p.Thr3326Ser)
c.3241A>T (p.Thr1081Ser)
n.3392A>T
c.3136A>T (p.Thr1046Ser)
c.652A>T (p.Thr218Ser)
c.547A>T (p.Thr183Ser)
c.10156A>T (p.Thr3386Ser)
c.10090A>T (p.Thr3364Ser)
c.10153A>T (p.Thr3385Ser)
c.10150A>T (p.Thr3384Ser)
c.10096A>T (p.Thr3366Ser)
c.10066A>T (p.Thr3356Ser)
c.10051A>T (p.Thr3351Ser)
c.10021A>T (p.Thr3341Ser)
c.9616A>T (p.Thr3206Ser)
c.8974A>T (p.Thr2992Ser)
c.6484A>T (p.Thr2162Ser)
10g.71815175C>ACA377138771CDH23c.9962C>A (p.Thr3321Asn)
c.3895C>A (n.3895C>A)
c.3454C>A (n.3454C>A)
c.9977C>A (p.Thr3326Asn)
c.3242C>A (p.Thr1081Asn)
n.3393C>A
c.3137C>A (p.Thr1046Asn)
c.653C>A (p.Thr218Asn)
c.548C>A (p.Thr183Asn)
c.10157C>A (p.Thr3386Asn)
c.10091C>A (p.Thr3364Asn)
c.10154C>A (p.Thr3385Asn)
c.10151C>A (p.Thr3384Asn)
c.10097C>A (p.Thr3366Asn)
c.10067C>A (p.Thr3356Asn)
c.10052C>A (p.Thr3351Asn)
c.10022C>A (p.Thr3341Asn)
c.9617C>A (p.Thr3206Asn)
c.8975C>A (p.Thr2992Asn)
c.6485C>A (p.Thr2162Asn)
10g.71815175C>GCA377138760CDH23c.9962C>G (p.Thr3321Ser)
c.3895C>G (n.3895C>G)
c.3454C>G (n.3454C>G)
c.9977C>G (p.Thr3326Ser)
c.3242C>G (p.Thr1081Ser)
n.3393C>G
c.3137C>G (p.Thr1046Ser)
c.653C>G (p.Thr218Ser)
c.548C>G (p.Thr183Ser)
c.10157C>G (p.Thr3386Ser)
c.10091C>G (p.Thr3364Ser)
c.10154C>G (p.Thr3385Ser)
c.10151C>G (p.Thr3384Ser)
c.10097C>G (p.Thr3366Ser)
c.10067C>G (p.Thr3356Ser)
c.10052C>G (p.Thr3351Ser)
c.10022C>G (p.Thr3341Ser)
c.9617C>G (p.Thr3206Ser)
c.8975C>G (p.Thr2992Ser)
c.6485C>G (p.Thr2162Ser)
10g.71815175C>TCA377138763CDH23c.9962C>T (p.Thr3321Ile)
c.3895C>T (n.3895C>T)
c.3454C>T (n.3454C>T)
c.9977C>T (p.Thr3326Ile)
c.3242C>T (p.Thr1081Ile)
n.3393C>T
c.3137C>T (p.Thr1046Ile)
c.653C>T (p.Thr218Ile)
c.548C>T (p.Thr183Ile)
c.10157C>T (p.Thr3386Ile)
c.10091C>T (p.Thr3364Ile)
c.10154C>T (p.Thr3385Ile)
c.10151C>T (p.Thr3384Ile)
c.10097C>T (p.Thr3366Ile)
c.10067C>T (p.Thr3356Ile)
c.10052C>T (p.Thr3351Ile)
c.10022C>T (p.Thr3341Ile)
c.9617C>T (p.Thr3206Ile)
c.8975C>T (p.Thr2992Ile)
c.6485C>T (p.Thr2162Ile)
10g.71815176T>ACA470283343CDH23c.9963T>A (p.Thr3321=)
c.3896T>A (n.3896T>A)
c.3455T>A (n.3455T>A)
c.9978T>A (p.Thr3326=)
c.3243T>A (p.Thr1081=)
n.3394T>A
c.3138T>A (p.Thr1046=)
c.654T>A (p.Thr218=)
c.549T>A (p.Thr183=)
c.10158T>A (p.Thr3386=)
c.10092T>A (p.Thr3364=)
c.10155T>A (p.Thr3385=)
c.10152T>A (p.Thr3384=)
c.10098T>A (p.Thr3366=)
c.10068T>A (p.Thr3356=)
c.10053T>A (p.Thr3351=)
c.10023T>A (p.Thr3341=)
c.9618T>A (p.Thr3206=)
c.8976T>A (p.Thr2992=)
c.6486T>A (p.Thr2162=)
10g.71815176T>CCA470283344CDH23c.9963T>C (p.Thr3321=)
c.3896T>C (n.3896T>C)
c.3455T>C (n.3455T>C)
c.9978T>C (p.Thr3326=)
c.3243T>C (p.Thr1081=)
n.3394T>C
c.3138T>C (p.Thr1046=)
c.654T>C (p.Thr218=)
c.549T>C (p.Thr183=)
c.10158T>C (p.Thr3386=)
c.10092T>C (p.Thr3364=)
c.10155T>C (p.Thr3385=)
c.10152T>C (p.Thr3384=)
c.10098T>C (p.Thr3366=)
c.10068T>C (p.Thr3356=)
c.10053T>C (p.Thr3351=)
c.10023T>C (p.Thr3341=)
c.9618T>C (p.Thr3206=)
c.8976T>C (p.Thr2992=)
c.6486T>C (p.Thr2162=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71815176T>GCA470283346CDH23c.9963T>G (p.Thr3321=)
c.3896T>G (n.3896T>G)
c.3455T>G (n.3455T>G)
c.9978T>G (p.Thr3326=)
c.3243T>G (p.Thr1081=)
n.3394T>G
c.3138T>G (p.Thr1046=)
c.654T>G (p.Thr218=)
c.549T>G (p.Thr183=)
c.10158T>G (p.Thr3386=)
c.10092T>G (p.Thr3364=)
c.10155T>G (p.Thr3385=)
c.10152T>G (p.Thr3384=)
c.10098T>G (p.Thr3366=)
c.10068T>G (p.Thr3356=)
c.10053T>G (p.Thr3351=)
c.10023T>G (p.Thr3341=)
c.9618T>G (p.Thr3206=)
c.8976T>G (p.Thr2992=)
c.6486T>G (p.Thr2162=)
 ClinVar
10g.71815176T=CA1918895945CDH23c.9963T= (p.Thr3321=)
c.3896T= (n.3896T=)
c.3455T= (n.3455T=)
c.9978T= (p.Thr3326=)
c.3243T= (p.Thr1081=)
n.3394T=
c.3138T= (p.Thr1046=)
c.654T= (p.Thr218=)
c.549T= (p.Thr183=)
c.10158T= (p.Thr3386=)
c.10092T= (p.Thr3364=)
c.10155T= (p.Thr3385=)
c.10152T= (p.Thr3384=)
c.10098T= (p.Thr3366=)
c.10068T= (p.Thr3356=)
c.10053T= (p.Thr3351=)
c.10023T= (p.Thr3341=)
c.9618T= (p.Thr3206=)
c.8976T= (p.Thr2992=)
c.6486T= (p.Thr2162=)
10g.71815176_71815177insACGCA2788486590CDH23c.9963_9964insACG (p.Thr3321_Ala3322insThr)
c.3896_3897insACG (n.3896_3897insACG)
c.3455_3456insACG (n.3455_3456insACG)
c.9978_9979insACG (p.Thr3326_Ala3327insThr)
c.3243_3244insACG (p.Thr1081_Ala1082insThr)
n.3394_3395insACG
c.3138_3139insACG (p.Thr1046_Ala1047insThr)
c.654_655insACG (p.Thr218_Ala219insThr)
c.549_550insACG (p.Thr183_Ala184insThr)
c.10158_10159insACG (p.Thr3386_Ala3387insThr)
c.10092_10093insACG (p.Thr3364_Ala3365insThr)
c.10155_10156insACG (p.Thr3385_Ala3386insThr)
c.10152_10153insACG (p.Thr3384_Ala3385insThr)
c.10098_10099insACG (p.Thr3366_Ala3367insThr)
c.10068_10069insACG (p.Thr3356_Ala3357insThr)
c.10053_10054insACG (p.Thr3351_Ala3352insThr)
c.10023_10024insACG (p.Thr3341_Ala3342insThr)
c.9618_9619insACG (p.Thr3206_Ala3207insThr)
c.8976_8977insACG (p.Thr2992_Ala2993insThr)
c.6486_6487insACG (p.Thr2162_Ala2163insThr)
10g.71815177G>ACA377138774CDH23c.9964G>A (p.Ala3322Thr)
c.3897G>A (n.3897G>A)
c.3456G>A (n.3456G>A)
c.9979G>A (p.Ala3327Thr)
c.3244G>A (p.Ala1082Thr)
n.3395G>A
c.3139G>A (p.Ala1047Thr)
c.655G>A (p.Ala219Thr)
c.550G>A (p.Ala184Thr)
c.10159G>A (p.Ala3387Thr)
c.10093G>A (p.Ala3365Thr)
c.10156G>A (p.Ala3386Thr)
c.10153G>A (p.Ala3385Thr)
c.10099G>A (p.Ala3367Thr)
c.10069G>A (p.Ala3357Thr)
c.10054G>A (p.Ala3352Thr)
c.10024G>A (p.Ala3342Thr)
c.9619G>A (p.Ala3207Thr)
c.8977G>A (p.Ala2993Thr)
c.6487G>A (p.Ala2163Thr)
 dbSNP gnomAD v4
10g.71815177G>CCA377138775CDH23c.9964G>C (p.Ala3322Pro)
c.3897G>C (n.3897G>C)
c.3456G>C (n.3456G>C)
c.9979G>C (p.Ala3327Pro)
c.3244G>C (p.Ala1082Pro)
n.3395G>C
c.3139G>C (p.Ala1047Pro)
c.655G>C (p.Ala219Pro)
c.550G>C (p.Ala184Pro)
c.10159G>C (p.Ala3387Pro)
c.10093G>C (p.Ala3365Pro)
c.10156G>C (p.Ala3386Pro)
c.10153G>C (p.Ala3385Pro)
c.10099G>C (p.Ala3367Pro)
c.10069G>C (p.Ala3357Pro)
c.10054G>C (p.Ala3352Pro)
c.10024G>C (p.Ala3342Pro)
c.9619G>C (p.Ala3207Pro)
c.8977G>C (p.Ala2993Pro)
c.6487G>C (p.Ala2163Pro)
10g.71815177G>TCA377138777CDH23c.9964G>T (p.Ala3322Ser)
c.3897G>T (n.3897G>T)
c.3456G>T (n.3456G>T)
c.9979G>T (p.Ala3327Ser)
c.3244G>T (p.Ala1082Ser)
n.3395G>T
c.3139G>T (p.Ala1047Ser)
c.655G>T (p.Ala219Ser)
c.550G>T (p.Ala184Ser)
c.10159G>T (p.Ala3387Ser)
c.10093G>T (p.Ala3365Ser)
c.10156G>T (p.Ala3386Ser)
c.10153G>T (p.Ala3385Ser)
c.10099G>T (p.Ala3367Ser)
c.10069G>T (p.Ala3357Ser)
c.10054G>T (p.Ala3352Ser)
c.10024G>T (p.Ala3342Ser)
c.9619G>T (p.Ala3207Ser)
c.8977G>T (p.Ala2993Ser)
c.6487G>T (p.Ala2163Ser)
10g.71815178C>ACA377138780CDH23c.9965C>A (p.Ala3322Asp)
c.3898C>A (n.3898C>A)
c.3457C>A (n.3457C>A)
c.9980C>A (p.Ala3327Asp)
c.3245C>A (p.Ala1082Asp)
n.3396C>A
c.3140C>A (p.Ala1047Asp)
c.656C>A (p.Ala219Asp)
c.551C>A (p.Ala184Asp)
c.10160C>A (p.Ala3387Asp)
c.10094C>A (p.Ala3365Asp)
c.10157C>A (p.Ala3386Asp)
c.10154C>A (p.Ala3385Asp)
c.10100C>A (p.Ala3367Asp)
c.10070C>A (p.Ala3357Asp)
c.10055C>A (p.Ala3352Asp)
c.10025C>A (p.Ala3342Asp)
c.9620C>A (p.Ala3207Asp)
c.8978C>A (p.Ala2993Asp)
c.6488C>A (p.Ala2163Asp)
 dbSNP
10g.71815178C>GCA377138781CDH23c.9965C>G (p.Ala3322Gly)
c.3898C>G (n.3898C>G)
c.3457C>G (n.3457C>G)
c.9980C>G (p.Ala3327Gly)
c.3245C>G (p.Ala1082Gly)
n.3396C>G
c.3140C>G (p.Ala1047Gly)
c.656C>G (p.Ala219Gly)
c.551C>G (p.Ala184Gly)
c.10160C>G (p.Ala3387Gly)
c.10094C>G (p.Ala3365Gly)
c.10157C>G (p.Ala3386Gly)
c.10154C>G (p.Ala3385Gly)
c.10100C>G (p.Ala3367Gly)
c.10070C>G (p.Ala3357Gly)
c.10055C>G (p.Ala3352Gly)
c.10025C>G (p.Ala3342Gly)
c.9620C>G (p.Ala3207Gly)
c.8978C>G (p.Ala2993Gly)
c.6488C>G (p.Ala2163Gly)
10g.71815178C>TCA377138783CDH23c.9965C>T (p.Ala3322Val)
c.3898C>T (n.3898C>T)
c.3457C>T (n.3457C>T)
c.9980C>T (p.Ala3327Val)
c.3245C>T (p.Ala1082Val)
n.3396C>T
c.3140C>T (p.Ala1047Val)
c.656C>T (p.Ala219Val)
c.551C>T (p.Ala184Val)
c.10160C>T (p.Ala3387Val)
c.10094C>T (p.Ala3365Val)
c.10157C>T (p.Ala3386Val)
c.10154C>T (p.Ala3385Val)
c.10100C>T (p.Ala3367Val)
c.10070C>T (p.Ala3357Val)
c.10055C>T (p.Ala3352Val)
c.10025C>T (p.Ala3342Val)
c.9620C>T (p.Ala3207Val)
c.8978C>T (p.Ala2993Val)
c.6488C>T (p.Ala2163Val)
 dbSNP
10g.71815179C>ACA470283347CDH23c.9966C>A (p.Ala3322=)
c.3899C>A (n.3899C>A)
c.3458C>A (n.3458C>A)
c.9981C>A (p.Ala3327=)
c.3246C>A (p.Ala1082=)
n.3397C>A
c.3141C>A (p.Ala1047=)
c.657C>A (p.Ala219=)
c.552C>A (p.Ala184=)
c.10161C>A (p.Ala3387=)
c.10095C>A (p.Ala3365=)
c.10158C>A (p.Ala3386=)
c.10155C>A (p.Ala3385=)
c.10101C>A (p.Ala3367=)
c.10071C>A (p.Ala3357=)
c.10056C>A (p.Ala3352=)
c.10026C>A (p.Ala3342=)
c.9621C>A (p.Ala3207=)
c.8979C>A (p.Ala2993=)
c.6489C>A (p.Ala2163=)
10g.71815179C>GCA470283348CDH23c.9966C>G (p.Ala3322=)
c.3899C>G (n.3899C>G)
c.3458C>G (n.3458C>G)
c.9981C>G (p.Ala3327=)
c.3246C>G (p.Ala1082=)
n.3397C>G
c.3141C>G (p.Ala1047=)
c.657C>G (p.Ala219=)
c.552C>G (p.Ala184=)
c.10161C>G (p.Ala3387=)
c.10095C>G (p.Ala3365=)
c.10158C>G (p.Ala3386=)
c.10155C>G (p.Ala3385=)
c.10101C>G (p.Ala3367=)
c.10071C>G (p.Ala3357=)
c.10056C>G (p.Ala3352=)
c.10026C>G (p.Ala3342=)
c.9621C>G (p.Ala3207=)
c.8979C>G (p.Ala2993=)
c.6489C>G (p.Ala2163=)
10g.71815179C>TCA470283349CDH23c.9966C>T (p.Ala3322=)
c.3899C>T (n.3899C>T)
c.3458C>T (n.3458C>T)
c.9981C>T (p.Ala3327=)
c.3246C>T (p.Ala1082=)
n.3397C>T
c.3141C>T (p.Ala1047=)
c.657C>T (p.Ala219=)
c.552C>T (p.Ala184=)
c.10161C>T (p.Ala3387=)
c.10095C>T (p.Ala3365=)
c.10158C>T (p.Ala3386=)
c.10155C>T (p.Ala3385=)
c.10101C>T (p.Ala3367=)
c.10071C>T (p.Ala3357=)
c.10056C>T (p.Ala3352=)
c.10026C>T (p.Ala3342=)
c.9621C>T (p.Ala3207=)
c.8979C>T (p.Ala2993=)
c.6489C>T (p.Ala2163=)
10g.71815180T>ACA377138785CDH23c.9967T>A (p.Phe3323Ile)
c.3900T>A (n.3900T>A)
c.3459T>A (n.3459T>A)
c.9982T>A (p.Phe3328Ile)
c.3247T>A (p.Phe1083Ile)
n.3398T>A
c.3142T>A (p.Phe1048Ile)
c.658T>A (p.Phe220Ile)
c.553T>A (p.Phe185Ile)
c.10162T>A (p.Phe3388Ile)
c.10096T>A (p.Phe3366Ile)
c.10159T>A (p.Phe3387Ile)
c.10156T>A (p.Phe3386Ile)
c.10102T>A (p.Phe3368Ile)
c.10072T>A (p.Phe3358Ile)
c.10057T>A (p.Phe3353Ile)
c.10027T>A (p.Phe3343Ile)
c.9622T>A (p.Phe3208Ile)
c.8980T>A (p.Phe2994Ile)
c.6490T>A (p.Phe2164Ile)
10g.71815180T>CCA377138787CDH23c.9967T>C (p.Phe3323Leu)
c.3900T>C (n.3900T>C)
c.3459T>C (n.3459T>C)
c.9982T>C (p.Phe3328Leu)
c.3247T>C (p.Phe1083Leu)
n.3398T>C
c.3142T>C (p.Phe1048Leu)
c.658T>C (p.Phe220Leu)
c.553T>C (p.Phe185Leu)
c.10162T>C (p.Phe3388Leu)
c.10096T>C (p.Phe3366Leu)
c.10159T>C (p.Phe3387Leu)
c.10156T>C (p.Phe3386Leu)
c.10102T>C (p.Phe3368Leu)
c.10072T>C (p.Phe3358Leu)
c.10057T>C (p.Phe3353Leu)
c.10027T>C (p.Phe3343Leu)
c.9622T>C (p.Phe3208Leu)
c.8980T>C (p.Phe2994Leu)
c.6490T>C (p.Phe2164Leu)
10g.71815180T>GCA377138796CDH23c.9967T>G (p.Phe3323Val)
c.3900T>G (n.3900T>G)
c.3459T>G (n.3459T>G)
c.9982T>G (p.Phe3328Val)
c.3247T>G (p.Phe1083Val)
n.3398T>G
c.3142T>G (p.Phe1048Val)
c.658T>G (p.Phe220Val)
c.553T>G (p.Phe185Val)
c.10162T>G (p.Phe3388Val)
c.10096T>G (p.Phe3366Val)
c.10159T>G (p.Phe3387Val)
c.10156T>G (p.Phe3386Val)
c.10102T>G (p.Phe3368Val)
c.10072T>G (p.Phe3358Val)
c.10057T>G (p.Phe3353Val)
c.10027T>G (p.Phe3343Val)
c.9622T>G (p.Phe3208Val)
c.8980T>G (p.Phe2994Val)
c.6490T>G (p.Phe2164Val)
10g.71815181T>ACA377138805CDH23c.9968T>A (p.Phe3323Tyr)
c.3901T>A (n.3901T>A)
c.3460T>A (n.3460T>A)
c.9983T>A (p.Phe3328Tyr)
c.3248T>A (p.Phe1083Tyr)
n.3399T>A
c.3143T>A (p.Phe1048Tyr)
c.659T>A (p.Phe220Tyr)
c.554T>A (p.Phe185Tyr)
c.10163T>A (p.Phe3388Tyr)
c.10097T>A (p.Phe3366Tyr)
c.10160T>A (p.Phe3387Tyr)
c.10157T>A (p.Phe3386Tyr)
c.10103T>A (p.Phe3368Tyr)
c.10073T>A (p.Phe3358Tyr)
c.10058T>A (p.Phe3353Tyr)
c.10028T>A (p.Phe3343Tyr)
c.9623T>A (p.Phe3208Tyr)
c.8981T>A (p.Phe2994Tyr)
c.6491T>A (p.Phe2164Tyr)
10g.71815181T>CCA377138808CDH23c.9968T>C (p.Phe3323Ser)
c.3901T>C (n.3901T>C)
c.3460T>C (n.3460T>C)
c.9983T>C (p.Phe3328Ser)
c.3248T>C (p.Phe1083Ser)
n.3399T>C
c.3143T>C (p.Phe1048Ser)
c.659T>C (p.Phe220Ser)
c.554T>C (p.Phe185Ser)
c.10163T>C (p.Phe3388Ser)
c.10097T>C (p.Phe3366Ser)
c.10160T>C (p.Phe3387Ser)
c.10157T>C (p.Phe3386Ser)
c.10103T>C (p.Phe3368Ser)
c.10073T>C (p.Phe3358Ser)
c.10058T>C (p.Phe3353Ser)
c.10028T>C (p.Phe3343Ser)
c.9623T>C (p.Phe3208Ser)
c.8981T>C (p.Phe2994Ser)
c.6491T>C (p.Phe2164Ser)
10g.71815181T>GCA377138813CDH23c.9968T>G (p.Phe3323Cys)
c.3901T>G (n.3901T>G)
c.3460T>G (n.3460T>G)
c.9983T>G (p.Phe3328Cys)
c.3248T>G (p.Phe1083Cys)
n.3399T>G
c.3143T>G (p.Phe1048Cys)
c.659T>G (p.Phe220Cys)
c.554T>G (p.Phe185Cys)
c.10163T>G (p.Phe3388Cys)
c.10097T>G (p.Phe3366Cys)
c.10160T>G (p.Phe3387Cys)
c.10157T>G (p.Phe3386Cys)
c.10103T>G (p.Phe3368Cys)
c.10073T>G (p.Phe3358Cys)
c.10058T>G (p.Phe3353Cys)
c.10028T>G (p.Phe3343Cys)
c.9623T>G (p.Phe3208Cys)
c.8981T>G (p.Phe2994Cys)
c.6491T>G (p.Phe2164Cys)
 gnomAD v4
10g.71815182C>ACA377138817CDH23c.9969C>A (p.Phe3323Leu)
c.3902C>A (n.3902C>A)
c.3461C>A (n.3461C>A)
c.9984C>A (p.Phe3328Leu)
c.3249C>A (p.Phe1083Leu)
n.3400C>A
c.3144C>A (p.Phe1048Leu)
c.660C>A (p.Phe220Leu)
c.555C>A (p.Phe185Leu)
c.10164C>A (p.Phe3388Leu)
c.10098C>A (p.Phe3366Leu)
c.10161C>A (p.Phe3387Leu)
c.10158C>A (p.Phe3386Leu)
c.10104C>A (p.Phe3368Leu)
c.10074C>A (p.Phe3358Leu)
c.10059C>A (p.Phe3353Leu)
c.10029C>A (p.Phe3343Leu)
c.9624C>A (p.Phe3208Leu)
c.8982C>A (p.Phe2994Leu)
c.6492C>A (p.Phe2164Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71815182C=CA1918895948CDH23c.9969C= (p.Phe3323=)
c.3902C= (n.3902C=)
c.3461C= (n.3461C=)
c.9984C= (p.Phe3328=)
c.3249C= (p.Phe1083=)
n.3400C=
c.3144C= (p.Phe1048=)
c.660C= (p.Phe220=)
c.555C= (p.Phe185=)
c.10164C= (p.Phe3388=)
c.10098C= (p.Phe3366=)
c.10161C= (p.Phe3387=)
c.10158C= (p.Phe3386=)
c.10104C= (p.Phe3368=)
c.10074C= (p.Phe3358=)
c.10059C= (p.Phe3353=)
c.10029C= (p.Phe3343=)
c.9624C= (p.Phe3208=)
c.8982C= (p.Phe2994=)
c.6492C= (p.Phe2164=)
10g.71815182C>GCA377138814CDH23c.9969C>G (p.Phe3323Leu)
c.3902C>G (n.3902C>G)
c.3461C>G (n.3461C>G)
c.9984C>G (p.Phe3328Leu)
c.3249C>G (p.Phe1083Leu)
n.3400C>G
c.3144C>G (p.Phe1048Leu)
c.660C>G (p.Phe220Leu)
c.555C>G (p.Phe185Leu)
c.10164C>G (p.Phe3388Leu)
c.10098C>G (p.Phe3366Leu)
c.10161C>G (p.Phe3387Leu)
c.10158C>G (p.Phe3386Leu)
c.10104C>G (p.Phe3368Leu)
c.10074C>G (p.Phe3358Leu)
c.10059C>G (p.Phe3353Leu)
c.10029C>G (p.Phe3343Leu)
c.9624C>G (p.Phe3208Leu)
c.8982C>G (p.Phe2994Leu)
c.6492C>G (p.Phe2164Leu)
10g.71815182C>TCA470283353CDH23c.9969C>T (p.Phe3323=)
c.3902C>T (n.3902C>T)
c.3461C>T (n.3461C>T)
c.9984C>T (p.Phe3328=)
c.3249C>T (p.Phe1083=)
n.3400C>T
c.3144C>T (p.Phe1048=)
c.660C>T (p.Phe220=)
c.555C>T (p.Phe185=)
c.10164C>T (p.Phe3388=)
c.10098C>T (p.Phe3366=)
c.10161C>T (p.Phe3387=)
c.10158C>T (p.Phe3386=)
c.10104C>T (p.Phe3368=)
c.10074C>T (p.Phe3358=)
c.10059C>T (p.Phe3353=)
c.10029C>T (p.Phe3343=)
c.9624C>T (p.Phe3208=)
c.8982C>T (p.Phe2994=)
c.6492C>T (p.Phe2164=)
 ClinVar dbSNP gnomAD v4
10g.71815182_71815183insACAGCA2788486591CDH23c.9969_9970insACAG (p.Glu3324ThrfsTer?)
c.3902_3903insACAG (n.3902_3903insACAG)
c.3461_3462insACAG (n.3461_3462insACAG)
c.9984_9985insACAG (p.Glu3329ThrfsTer?)
c.3249_3250insACAG (p.Glu1084ThrfsTer?)
n.3400_3401insACAG
c.3144_3145insACAG (p.Glu1049ThrfsTer?)
c.660_661insACAG (p.Glu221ThrfsTer?)
c.555_556insACAG (p.Glu186ThrfsTer?)
c.10164_10165insACAG (p.Glu3389ThrfsTer?)
c.10098_10099insACAG (p.Glu3367ThrfsTer?)
c.10161_10162insACAG (p.Glu3388ThrfsTer?)
c.10158_10159insACAG (p.Glu3387ThrfsTer?)
c.10104_10105insACAG (p.Glu3369ThrfsTer?)
c.10074_10075insACAG (p.Glu3359ThrfsTer?)
c.10059_10060insACAG (p.Glu3354ThrfsTer?)
c.10029_10030insACAG (p.Glu3344ThrfsTer?)
c.9624_9625insACAG (p.Glu3209ThrfsTer?)
c.8982_8983insACAG (p.Glu2995ThrfsTer?)
c.6492_6493insACAG (p.Glu2165ThrfsTer?)
10g.71815183G>ACA5547229CDH23c.9970G>A (p.Glu3324Lys)
c.3903G>A (n.3903G>A)
c.3462G>A (n.3462G>A)
c.9985G>A (p.Glu3329Lys)
c.3250G>A (p.Glu1084Lys)
n.3401G>A
c.3145G>A (p.Glu1049Lys)
c.661G>A (p.Glu221Lys)
c.556G>A (p.Glu186Lys)
c.10165G>A (p.Glu3389Lys)
c.10099G>A (p.Glu3367Lys)
c.10162G>A (p.Glu3388Lys)
c.10159G>A (p.Glu3387Lys)
c.10105G>A (p.Glu3369Lys)
c.10075G>A (p.Glu3359Lys)
c.10060G>A (p.Glu3354Lys)
c.10030G>A (p.Glu3344Lys)
c.9625G>A (p.Glu3209Lys)
c.8983G>A (p.Glu2995Lys)
c.6493G>A (p.Glu2165Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815183G>CCA377138824CDH23c.9970G>C (p.Glu3324Gln)
c.3903G>C (n.3903G>C)
c.3462G>C (n.3462G>C)
c.9985G>C (p.Glu3329Gln)
c.3250G>C (p.Glu1084Gln)
n.3401G>C
c.3145G>C (p.Glu1049Gln)
c.661G>C (p.Glu221Gln)
c.556G>C (p.Glu186Gln)
c.10165G>C (p.Glu3389Gln)
c.10099G>C (p.Glu3367Gln)
c.10162G>C (p.Glu3388Gln)
c.10159G>C (p.Glu3387Gln)
c.10105G>C (p.Glu3369Gln)
c.10075G>C (p.Glu3359Gln)
c.10060G>C (p.Glu3354Gln)
c.10030G>C (p.Glu3344Gln)
c.9625G>C (p.Glu3209Gln)
c.8983G>C (p.Glu2995Gln)
c.6493G>C (p.Glu2165Gln)
10g.71815183G=CA1918895952CDH23c.9970G= (p.Glu3324=)
c.3903G= (n.3903G=)
c.3462G= (n.3462G=)
c.9985G= (p.Glu3329=)
c.3250G= (p.Glu1084=)
n.3401G=
c.3145G= (p.Glu1049=)
c.661G= (p.Glu221=)
c.556G= (p.Glu186=)
c.10165G= (p.Glu3389=)
c.10099G= (p.Glu3367=)
c.10162G= (p.Glu3388=)
c.10159G= (p.Glu3387=)
c.10105G= (p.Glu3369=)
c.10075G= (p.Glu3359=)
c.10060G= (p.Glu3354=)
c.10030G= (p.Glu3344=)
c.9625G= (p.Glu3209=)
c.8983G= (p.Glu2995=)
c.6493G= (p.Glu2165=)
10g.71815183G>TCA377138827CDH23c.9970G>T (p.Glu3324Ter)
c.3903G>T (n.3903G>T)
c.3462G>T (n.3462G>T)
c.9985G>T (p.Glu3329Ter)
c.3250G>T (p.Glu1084Ter)
n.3401G>T
c.3145G>T (p.Glu1049Ter)
c.661G>T (p.Glu221Ter)
c.556G>T (p.Glu186Ter)
c.10165G>T (p.Glu3389Ter)
c.10099G>T (p.Glu3367Ter)
c.10162G>T (p.Glu3388Ter)
c.10159G>T (p.Glu3387Ter)
c.10105G>T (p.Glu3369Ter)
c.10075G>T (p.Glu3359Ter)
c.10060G>T (p.Glu3354Ter)
c.10030G>T (p.Glu3344Ter)
c.9625G>T (p.Glu3209Ter)
c.8983G>T (p.Glu2995Ter)
c.6493G>T (p.Glu2165Ter)
 dbSNP gnomAD v2 gnomAD v4
10g.71815184A=CA1918895960CDH23c.9971A= (p.Glu3324=)
c.3904A= (n.3904A=)
c.3463A= (n.3463A=)
c.9986A= (p.Glu3329=)
c.3251A= (p.Glu1084=)
n.3402A=
c.3146A= (p.Glu1049=)
c.662A= (p.Glu221=)
c.557A= (p.Glu186=)
c.10166A= (p.Glu3389=)
c.10100A= (p.Glu3367=)
c.10163A= (p.Glu3388=)
c.10160A= (p.Glu3387=)
c.10106A= (p.Glu3369=)
c.10076A= (p.Glu3359=)
c.10061A= (p.Glu3354=)
c.10031A= (p.Glu3344=)
c.9626A= (p.Glu3209=)
c.8984A= (p.Glu2995=)
c.6494A= (p.Glu2165=)
10g.71815184A>CCA377138831CDH23c.9971A>C (p.Glu3324Ala)
c.3904A>C (n.3904A>C)
c.3463A>C (n.3463A>C)
c.9986A>C (p.Glu3329Ala)
c.3251A>C (p.Glu1084Ala)
n.3402A>C
c.3146A>C (p.Glu1049Ala)
c.662A>C (p.Glu221Ala)
c.557A>C (p.Glu186Ala)
c.10166A>C (p.Glu3389Ala)
c.10100A>C (p.Glu3367Ala)
c.10163A>C (p.Glu3388Ala)
c.10160A>C (p.Glu3387Ala)
c.10106A>C (p.Glu3369Ala)
c.10076A>C (p.Glu3359Ala)
c.10061A>C (p.Glu3354Ala)
c.10031A>C (p.Glu3344Ala)
c.9626A>C (p.Glu3209Ala)
c.8984A>C (p.Glu2995Ala)
c.6494A>C (p.Glu2165Ala)
 COSMIC
10g.71815184A>GCA377138833CDH23c.9971A>G (p.Glu3324Gly)
c.3904A>G (n.3904A>G)
c.3463A>G (n.3463A>G)
c.9986A>G (p.Glu3329Gly)
c.3251A>G (p.Glu1084Gly)
n.3402A>G
c.3146A>G (p.Glu1049Gly)
c.662A>G (p.Glu221Gly)
c.557A>G (p.Glu186Gly)
c.10166A>G (p.Glu3389Gly)
c.10100A>G (p.Glu3367Gly)
c.10163A>G (p.Glu3388Gly)
c.10160A>G (p.Glu3387Gly)
c.10106A>G (p.Glu3369Gly)
c.10076A>G (p.Glu3359Gly)
c.10061A>G (p.Glu3354Gly)
c.10031A>G (p.Glu3344Gly)
c.9626A>G (p.Glu3209Gly)
c.8984A>G (p.Glu2995Gly)
c.6494A>G (p.Glu2165Gly)
 dbSNP
10g.71815184A>TCA377138836CDH23c.9971A>T (p.Glu3324Val)
c.3904A>T (n.3904A>T)
c.3463A>T (n.3463A>T)
c.9986A>T (p.Glu3329Val)
c.3251A>T (p.Glu1084Val)
n.3402A>T
c.3146A>T (p.Glu1049Val)
c.662A>T (p.Glu221Val)
c.557A>T (p.Glu186Val)
c.10166A>T (p.Glu3389Val)
c.10100A>T (p.Glu3367Val)
c.10163A>T (p.Glu3388Val)
c.10160A>T (p.Glu3387Val)
c.10106A>T (p.Glu3369Val)
c.10076A>T (p.Glu3359Val)
c.10061A>T (p.Glu3354Val)
c.10031A>T (p.Glu3344Val)
c.9626A>T (p.Glu3209Val)
c.8984A>T (p.Glu2995Val)
c.6494A>T (p.Glu2165Val)
 dbSNP
10g.71815185G>ACA470283354CDH23c.9972G>A (p.Glu3324=)
c.3905G>A (n.3905G>A)
c.3464G>A (n.3464G>A)
c.9987G>A (p.Glu3329=)
c.3252G>A (p.Glu1084=)
n.3403G>A
c.3147G>A (p.Glu1049=)
c.663G>A (p.Glu221=)
c.558G>A (p.Glu186=)
c.10167G>A (p.Glu3389=)
c.10101G>A (p.Glu3367=)
c.10164G>A (p.Glu3388=)
c.10161G>A (p.Glu3387=)
c.10107G>A (p.Glu3369=)
c.10077G>A (p.Glu3359=)
c.10062G>A (p.Glu3354=)
c.10032G>A (p.Glu3344=)
c.9627G>A (p.Glu3209=)
c.8985G>A (p.Glu2995=)
c.6495G>A (p.Glu2165=)
 ClinVar dbSNP
10g.71815185G>CCA377138841CDH23c.9972G>C (p.Glu3324Asp)
c.3905G>C (n.3905G>C)
c.3464G>C (n.3464G>C)
c.9987G>C (p.Glu3329Asp)
c.3252G>C (p.Glu1084Asp)
n.3403G>C
c.3147G>C (p.Glu1049Asp)
c.663G>C (p.Glu221Asp)
c.558G>C (p.Glu186Asp)
c.10167G>C (p.Glu3389Asp)
c.10101G>C (p.Glu3367Asp)
c.10164G>C (p.Glu3388Asp)
c.10161G>C (p.Glu3387Asp)
c.10107G>C (p.Glu3369Asp)
c.10077G>C (p.Glu3359Asp)
c.10062G>C (p.Glu3354Asp)
c.10032G>C (p.Glu3344Asp)
c.9627G>C (p.Glu3209Asp)
c.8985G>C (p.Glu2995Asp)
c.6495G>C (p.Glu2165Asp)
10g.71815185G>TCA377138839CDH23c.9972G>T (p.Glu3324Asp)
c.3905G>T (n.3905G>T)
c.3464G>T (n.3464G>T)
c.9987G>T (p.Glu3329Asp)
c.3252G>T (p.Glu1084Asp)
n.3403G>T
c.3147G>T (p.Glu1049Asp)
c.663G>T (p.Glu221Asp)
c.558G>T (p.Glu186Asp)
c.10167G>T (p.Glu3389Asp)
c.10101G>T (p.Glu3367Asp)
c.10164G>T (p.Glu3388Asp)
c.10161G>T (p.Glu3387Asp)
c.10107G>T (p.Glu3369Asp)
c.10077G>T (p.Glu3359Asp)
c.10062G>T (p.Glu3354Asp)
c.10032G>T (p.Glu3344Asp)
c.9627G>T (p.Glu3209Asp)
c.8985G>T (p.Glu2995Asp)
c.6495G>T (p.Glu2165Asp)
10g.71815186C>ACA377138844CDH23c.9973C>A (p.Arg3325Ser)
c.3906C>A (n.3906C>A)
c.3465C>A (n.3465C>A)
c.9988C>A (p.Arg3330Ser)
c.3253C>A (p.Arg1085Ser)
n.3404C>A
c.3148C>A (p.Arg1050Ser)
c.664C>A (p.Arg222Ser)
c.559C>A (p.Arg187Ser)
c.10168C>A (p.Arg3390Ser)
c.10102C>A (p.Arg3368Ser)
c.10165C>A (p.Arg3389Ser)
c.10162C>A (p.Arg3388Ser)
c.10108C>A (p.Arg3370Ser)
c.10078C>A (p.Arg3360Ser)
c.10063C>A (p.Arg3355Ser)
c.10033C>A (p.Arg3345Ser)
c.9628C>A (p.Arg3210Ser)
c.8986C>A (p.Arg2996Ser)
c.6496C>A (p.Arg2166Ser)
 ClinVar dbSNP
10g.71815186C=CA1918895966CDH23c.9973C= (p.Arg3325=)
c.3906C= (n.3906C=)
c.3465C= (n.3465C=)
c.9988C= (p.Arg3330=)
c.3253C= (p.Arg1085=)
n.3404C=
c.3148C= (p.Arg1050=)
c.664C= (p.Arg222=)
c.559C= (p.Arg187=)
c.10168C= (p.Arg3390=)
c.10102C= (p.Arg3368=)
c.10165C= (p.Arg3389=)
c.10162C= (p.Arg3388=)
c.10108C= (p.Arg3370=)
c.10078C= (p.Arg3360=)
c.10063C= (p.Arg3355=)
c.10033C= (p.Arg3345=)
c.9628C= (p.Arg3210=)
c.8986C= (p.Arg2996=)
c.6496C= (p.Arg2166=)
10g.71815186C>GCA5547230CDH23c.9973C>G (p.Arg3325Gly)
c.3906C>G (n.3906C>G)
c.3465C>G (n.3465C>G)
c.9988C>G (p.Arg3330Gly)
c.3253C>G (p.Arg1085Gly)
n.3404C>G
c.3148C>G (p.Arg1050Gly)
c.664C>G (p.Arg222Gly)
c.559C>G (p.Arg187Gly)
c.10168C>G (p.Arg3390Gly)
c.10102C>G (p.Arg3368Gly)
c.10165C>G (p.Arg3389Gly)
c.10162C>G (p.Arg3388Gly)
c.10108C>G (p.Arg3370Gly)
c.10078C>G (p.Arg3360Gly)
c.10063C>G (p.Arg3355Gly)
c.10033C>G (p.Arg3345Gly)
c.9628C>G (p.Arg3210Gly)
c.8986C>G (p.Arg2996Gly)
c.6496C>G (p.Arg2166Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815186C>TCA5547231CDH23c.9973C>T (p.Arg3325Cys)
c.3906C>T (n.3906C>T)
c.3465C>T (n.3465C>T)
c.9988C>T (p.Arg3330Cys)
c.3253C>T (p.Arg1085Cys)
n.3404C>T
c.3148C>T (p.Arg1050Cys)
c.664C>T (p.Arg222Cys)
c.559C>T (p.Arg187Cys)
c.10168C>T (p.Arg3390Cys)
c.10102C>T (p.Arg3368Cys)
c.10165C>T (p.Arg3389Cys)
c.10162C>T (p.Arg3388Cys)
c.10108C>T (p.Arg3370Cys)
c.10078C>T (p.Arg3360Cys)
c.10063C>T (p.Arg3355Cys)
c.10033C>T (p.Arg3345Cys)
c.9628C>T (p.Arg3210Cys)
c.8986C>T (p.Arg2996Cys)
c.6496C>T (p.Arg2166Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815187delCA2609588989CDH23c.9974del (p.Arg3325ProfsTer19)
c.3907del (n.3907del)
c.3466del (n.3466del)
c.9989del (p.Arg3330ProfsTer19)
c.3254del (p.Arg1085ProfsTer19)
n.3405del
c.3149del (p.Arg1050ProfsTer19)
c.665del (p.Arg222ProfsTer19)
c.560del (p.Arg187ProfsTer19)
c.10169del (p.Arg3390ProfsTer19)
c.10103del (p.Arg3368ProfsTer19)
c.10166del (p.Arg3389ProfsTer19)
c.10163del (p.Arg3388ProfsTer19)
c.10109del (p.Arg3370ProfsTer19)
c.10079del (p.Arg3360ProfsTer19)
c.10064del (p.Arg3355ProfsTer19)
c.10034del (p.Arg3345ProfsTer19)
c.9629del (p.Arg3210ProfsTer19)
c.8987del (p.Arg2996ProfsTer19)
c.6497del (p.Arg2166ProfsTer19)
 gnomAD v4
10g.71815187G>ACA5547232CDH23c.9974G>A (p.Arg3325His)
c.3907G>A (n.3907G>A)
c.3466G>A (n.3466G>A)
c.9989G>A (p.Arg3330His)
c.3254G>A (p.Arg1085His)
n.3405G>A
c.3149G>A (p.Arg1050His)
c.665G>A (p.Arg222His)
c.560G>A (p.Arg187His)
c.10169G>A (p.Arg3390His)
c.10103G>A (p.Arg3368His)
c.10166G>A (p.Arg3389His)
c.10163G>A (p.Arg3388His)
c.10109G>A (p.Arg3370His)
c.10079G>A (p.Arg3360His)
c.10064G>A (p.Arg3355His)
c.10034G>A (p.Arg3345His)
c.9629G>A (p.Arg3210His)
c.8987G>A (p.Arg2996His)
c.6497G>A (p.Arg2166His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815187G>CCA377138855CDH23c.9974G>C (p.Arg3325Pro)
c.3907G>C (n.3907G>C)
c.3466G>C (n.3466G>C)
c.9989G>C (p.Arg3330Pro)
c.3254G>C (p.Arg1085Pro)
n.3405G>C
c.3149G>C (p.Arg1050Pro)
c.665G>C (p.Arg222Pro)
c.560G>C (p.Arg187Pro)
c.10169G>C (p.Arg3390Pro)
c.10103G>C (p.Arg3368Pro)
c.10166G>C (p.Arg3389Pro)
c.10163G>C (p.Arg3388Pro)
c.10109G>C (p.Arg3370Pro)
c.10079G>C (p.Arg3360Pro)
c.10064G>C (p.Arg3355Pro)
c.10034G>C (p.Arg3345Pro)
c.9629G>C (p.Arg3210Pro)
c.8987G>C (p.Arg2996Pro)
c.6497G>C (p.Arg2166Pro)
 dbSNP gnomAD v2 gnomAD v4
10g.71815187G=CA1918895971CDH23c.9974G= (p.Arg3325=)
c.3907G= (n.3907G=)
c.3466G= (n.3466G=)
c.9989G= (p.Arg3330=)
c.3254G= (p.Arg1085=)
n.3405G=
c.3149G= (p.Arg1050=)
c.665G= (p.Arg222=)
c.560G= (p.Arg187=)
c.10169G= (p.Arg3390=)
c.10103G= (p.Arg3368=)
c.10166G= (p.Arg3389=)
c.10163G= (p.Arg3388=)
c.10109G= (p.Arg3370=)
c.10079G= (p.Arg3360=)
c.10064G= (p.Arg3355=)
c.10034G= (p.Arg3345=)
c.9629G= (p.Arg3210=)
c.8987G= (p.Arg2996=)
c.6497G= (p.Arg2166=)
10g.71815187G>TCA377138858CDH23c.9974G>T (p.Arg3325Leu)
c.3907G>T (n.3907G>T)
c.3466G>T (n.3466G>T)
c.9989G>T (p.Arg3330Leu)
c.3254G>T (p.Arg1085Leu)
n.3405G>T
c.3149G>T (p.Arg1050Leu)
c.665G>T (p.Arg222Leu)
c.560G>T (p.Arg187Leu)
c.10169G>T (p.Arg3390Leu)
c.10103G>T (p.Arg3368Leu)
c.10166G>T (p.Arg3389Leu)
c.10163G>T (p.Arg3388Leu)
c.10109G>T (p.Arg3370Leu)
c.10079G>T (p.Arg3360Leu)
c.10064G>T (p.Arg3355Leu)
c.10034G>T (p.Arg3345Leu)
c.9629G>T (p.Arg3210Leu)
c.8987G>T (p.Arg2996Leu)
c.6497G>T (p.Arg2166Leu)
10g.71815188C>ACA470283358CDH23c.9975C>A (p.Arg3325=)
c.3908C>A (n.3908C>A)
c.3467C>A (n.3467C>A)
c.9990C>A (p.Arg3330=)
c.3255C>A (p.Arg1085=)
n.3406C>A
c.3150C>A (p.Arg1050=)
c.666C>A (p.Arg222=)
c.561C>A (p.Arg187=)
c.10170C>A (p.Arg3390=)
c.10104C>A (p.Arg3368=)
c.10167C>A (p.Arg3389=)
c.10164C>A (p.Arg3388=)
c.10110C>A (p.Arg3370=)
c.10080C>A (p.Arg3360=)
c.10065C>A (p.Arg3355=)
c.10035C>A (p.Arg3345=)
c.9630C>A (p.Arg3210=)
c.8988C>A (p.Arg2996=)
c.6498C>A (p.Arg2166=)
10g.71815188C>GCA470283359CDH23c.9975C>G (p.Arg3325=)
c.3908C>G (n.3908C>G)
c.3467C>G (n.3467C>G)
c.9990C>G (p.Arg3330=)
c.3255C>G (p.Arg1085=)
n.3406C>G
c.3150C>G (p.Arg1050=)
c.666C>G (p.Arg222=)
c.561C>G (p.Arg187=)
c.10170C>G (p.Arg3390=)
c.10104C>G (p.Arg3368=)
c.10167C>G (p.Arg3389=)
c.10164C>G (p.Arg3388=)
c.10110C>G (p.Arg3370=)
c.10080C>G (p.Arg3360=)
c.10065C>G (p.Arg3355=)
c.10035C>G (p.Arg3345=)
c.9630C>G (p.Arg3210=)
c.8988C>G (p.Arg2996=)
c.6498C>G (p.Arg2166=)
 dbSNP
10g.71815188C>TCA470283361CDH23c.9975C>T (p.Arg3325=)
c.3908C>T (n.3908C>T)
c.3467C>T (n.3467C>T)
c.9990C>T (p.Arg3330=)
c.3255C>T (p.Arg1085=)
n.3406C>T
c.3150C>T (p.Arg1050=)
c.666C>T (p.Arg222=)
c.561C>T (p.Arg187=)
c.10170C>T (p.Arg3390=)
c.10104C>T (p.Arg3368=)
c.10167C>T (p.Arg3389=)
c.10164C>T (p.Arg3388=)
c.10110C>T (p.Arg3370=)
c.10080C>T (p.Arg3360=)
c.10065C>T (p.Arg3355=)
c.10035C>T (p.Arg3345=)
c.9630C>T (p.Arg3210=)
c.8988C>T (p.Arg2996=)
c.6498C>T (p.Arg2166=)
10g.71815189A>CCA377138862CDH23c.9976A>C (p.Asn3326His)
c.3909A>C (n.3909A>C)
c.3468A>C (n.3468A>C)
c.9991A>C (p.Asn3331His)
c.3256A>C (p.Asn1086His)
n.3407A>C
c.3151A>C (p.Asn1051His)
c.667A>C (p.Asn223His)
c.562A>C (p.Asn188His)
c.10171A>C (p.Asn3391His)
c.10105A>C (p.Asn3369His)
c.10168A>C (p.Asn3390His)
c.10165A>C (p.Asn3389His)
c.10111A>C (p.Asn3371His)
c.10081A>C (p.Asn3361His)
c.10066A>C (p.Asn3356His)
c.10036A>C (p.Asn3346His)
c.9631A>C (p.Asn3211His)
c.8989A>C (p.Asn2997His)
c.6499A>C (p.Asn2167His)
 dbSNP gnomAD v4
10g.71815189A>GCA377138865CDH23c.9976A>G (p.Asn3326Asp)
c.3909A>G (n.3909A>G)
c.3468A>G (n.3468A>G)
c.9991A>G (p.Asn3331Asp)
c.3256A>G (p.Asn1086Asp)
n.3407A>G
c.3151A>G (p.Asn1051Asp)
c.667A>G (p.Asn223Asp)
c.562A>G (p.Asn188Asp)
c.10171A>G (p.Asn3391Asp)
c.10105A>G (p.Asn3369Asp)
c.10168A>G (p.Asn3390Asp)
c.10165A>G (p.Asn3389Asp)
c.10111A>G (p.Asn3371Asp)
c.10081A>G (p.Asn3361Asp)
c.10066A>G (p.Asn3356Asp)
c.10036A>G (p.Asn3346Asp)
c.9631A>G (p.Asn3211Asp)
c.8989A>G (p.Asn2997Asp)
c.6499A>G (p.Asn2167Asp)
 dbSNP
10g.71815189A>TCA377138864CDH23c.9976A>T (p.Asn3326Tyr)
c.3909A>T (n.3909A>T)
c.3468A>T (n.3468A>T)
c.9991A>T (p.Asn3331Tyr)
c.3256A>T (p.Asn1086Tyr)
n.3407A>T
c.3151A>T (p.Asn1051Tyr)
c.667A>T (p.Asn223Tyr)
c.562A>T (p.Asn188Tyr)
c.10171A>T (p.Asn3391Tyr)
c.10105A>T (p.Asn3369Tyr)
c.10168A>T (p.Asn3390Tyr)
c.10165A>T (p.Asn3389Tyr)
c.10111A>T (p.Asn3371Tyr)
c.10081A>T (p.Asn3361Tyr)
c.10066A>T (p.Asn3356Tyr)
c.10036A>T (p.Asn3346Tyr)
c.9631A>T (p.Asn3211Tyr)
c.8989A>T (p.Asn2997Tyr)
c.6499A>T (p.Asn2167Tyr)
10g.71815190A=CA1918895974CDH23c.9977A= (p.Asn3326=)
c.3910A= (n.3910A=)
c.3469A= (n.3469A=)
c.9992A= (p.Asn3331=)
c.3257A= (p.Asn1086=)
n.3408A=
c.3152A= (p.Asn1051=)
c.668A= (p.Asn223=)
c.563A= (p.Asn188=)
c.10172A= (p.Asn3391=)
c.10106A= (p.Asn3369=)
c.10169A= (p.Asn3390=)
c.10166A= (p.Asn3389=)
c.10112A= (p.Asn3371=)
c.10082A= (p.Asn3361=)
c.10067A= (p.Asn3356=)
c.10037A= (p.Asn3346=)
c.9632A= (p.Asn3211=)
c.8990A= (p.Asn2997=)
c.6500A= (p.Asn2167=)
10g.71815190A>CCA377138867CDH23c.9977A>C (p.Asn3326Thr)
c.3910A>C (n.3910A>C)
c.3469A>C (n.3469A>C)
c.9992A>C (p.Asn3331Thr)
c.3257A>C (p.Asn1086Thr)
n.3408A>C
c.3152A>C (p.Asn1051Thr)
c.668A>C (p.Asn223Thr)
c.563A>C (p.Asn188Thr)
c.10172A>C (p.Asn3391Thr)
c.10106A>C (p.Asn3369Thr)
c.10169A>C (p.Asn3390Thr)
c.10166A>C (p.Asn3389Thr)
c.10112A>C (p.Asn3371Thr)
c.10082A>C (p.Asn3361Thr)
c.10067A>C (p.Asn3356Thr)
c.10037A>C (p.Asn3346Thr)
c.9632A>C (p.Asn3211Thr)
c.8990A>C (p.Asn2997Thr)
c.6500A>C (p.Asn2167Thr)
10g.71815190A>GCA377138868CDH23c.9977A>G (p.Asn3326Ser)
c.3910A>G (n.3910A>G)
c.3469A>G (n.3469A>G)
c.9992A>G (p.Asn3331Ser)
c.3257A>G (p.Asn1086Ser)
n.3408A>G
c.3152A>G (p.Asn1051Ser)
c.668A>G (p.Asn223Ser)
c.563A>G (p.Asn188Ser)
c.10172A>G (p.Asn3391Ser)
c.10106A>G (p.Asn3369Ser)
c.10169A>G (p.Asn3390Ser)
c.10166A>G (p.Asn3389Ser)
c.10112A>G (p.Asn3371Ser)
c.10082A>G (p.Asn3361Ser)
c.10067A>G (p.Asn3356Ser)
c.10037A>G (p.Asn3346Ser)
c.9632A>G (p.Asn3211Ser)
c.8990A>G (p.Asn2997Ser)
c.6500A>G (p.Asn2167Ser)
 dbSNP gnomAD v4
10g.71815190A>TCA377138870CDH23c.9977A>T (p.Asn3326Ile)
c.3910A>T (n.3910A>T)
c.3469A>T (n.3469A>T)
c.9992A>T (p.Asn3331Ile)
c.3257A>T (p.Asn1086Ile)
n.3408A>T
c.3152A>T (p.Asn1051Ile)
c.668A>T (p.Asn223Ile)
c.563A>T (p.Asn188Ile)
c.10172A>T (p.Asn3391Ile)
c.10106A>T (p.Asn3369Ile)
c.10169A>T (p.Asn3390Ile)
c.10166A>T (p.Asn3389Ile)
c.10112A>T (p.Asn3371Ile)
c.10082A>T (p.Asn3361Ile)
c.10067A>T (p.Asn3356Ile)
c.10037A>T (p.Asn3346Ile)
c.9632A>T (p.Asn3211Ile)
c.8990A>T (p.Asn2997Ile)
c.6500A>T (p.Asn2167Ile)
10g.71815191C>ACA377138872CDH23c.9978C>A (p.Asn3326Lys)
c.3911C>A (n.3911C>A)
c.3470C>A (n.3470C>A)
c.9993C>A (p.Asn3331Lys)
c.3258C>A (p.Asn1086Lys)
n.3409C>A
c.3153C>A (p.Asn1051Lys)
c.669C>A (p.Asn223Lys)
c.564C>A (p.Asn188Lys)
c.10173C>A (p.Asn3391Lys)
c.10107C>A (p.Asn3369Lys)
c.10170C>A (p.Asn3390Lys)
c.10167C>A (p.Asn3389Lys)
c.10113C>A (p.Asn3371Lys)
c.10083C>A (p.Asn3361Lys)
c.10068C>A (p.Asn3356Lys)
c.10038C>A (p.Asn3346Lys)
c.9633C>A (p.Asn3211Lys)
c.8991C>A (p.Asn2997Lys)
c.6501C>A (p.Asn2167Lys)
 gnomAD v4
10g.71815191C=CA1918895984CDH23c.9978C= (p.Asn3326=)
c.3911C= (n.3911C=)
c.3470C= (n.3470C=)
c.9993C= (p.Asn3331=)
c.3258C= (p.Asn1086=)
n.3409C=
c.3153C= (p.Asn1051=)
c.669C= (p.Asn223=)
c.564C= (p.Asn188=)
c.10173C= (p.Asn3391=)
c.10107C= (p.Asn3369=)
c.10170C= (p.Asn3390=)
c.10167C= (p.Asn3389=)
c.10113C= (p.Asn3371=)
c.10083C= (p.Asn3361=)
c.10068C= (p.Asn3356=)
c.10038C= (p.Asn3346=)
c.9633C= (p.Asn3211=)
c.8991C= (p.Asn2997=)
c.6501C= (p.Asn2167=)
10g.71815191C>GCA377138875CDH23c.9978C>G (p.Asn3326Lys)
c.3911C>G (n.3911C>G)
c.3470C>G (n.3470C>G)
c.9993C>G (p.Asn3331Lys)
c.3258C>G (p.Asn1086Lys)
n.3409C>G
c.3153C>G (p.Asn1051Lys)
c.669C>G (p.Asn223Lys)
c.564C>G (p.Asn188Lys)
c.10173C>G (p.Asn3391Lys)
c.10107C>G (p.Asn3369Lys)
c.10170C>G (p.Asn3390Lys)
c.10167C>G (p.Asn3389Lys)
c.10113C>G (p.Asn3371Lys)
c.10083C>G (p.Asn3361Lys)
c.10068C>G (p.Asn3356Lys)
c.10038C>G (p.Asn3346Lys)
c.9633C>G (p.Asn3211Lys)
c.8991C>G (p.Asn2997Lys)
c.6501C>G (p.Asn2167Lys)
10g.71815191C>TCA137653CDH23c.9978C>T (p.Asn3326=)
c.3911C>T (n.3911C>T)
c.3470C>T (n.3470C>T)
c.9993C>T (p.Asn3331=)
c.3258C>T (p.Asn1086=)
n.3409C>T
c.3153C>T (p.Asn1051=)
c.669C>T (p.Asn223=)
c.564C>T (p.Asn188=)
c.10173C>T (p.Asn3391=)
c.10107C>T (p.Asn3369=)
c.10170C>T (p.Asn3390=)
c.10167C>T (p.Asn3389=)
c.10113C>T (p.Asn3371=)
c.10083C>T (p.Asn3361=)
c.10068C>T (p.Asn3356=)
c.10038C>T (p.Asn3346=)
c.9633C>T (p.Asn3211=)
c.8991C>T (p.Asn2997=)
c.6501C>T (p.Asn2167=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815191_71815192insAGACA2788486603CDH23c.9978_9979insAGA (p.Asn3326_Ala3327insArg)
c.3911_3912insAGA (n.3911_3912insAGA)
c.3470_3471insAGA (n.3470_3471insAGA)
c.9993_9994insAGA (p.Asn3331_Ala3332insArg)
c.3258_3259insAGA (p.Asn1086_Ala1087insArg)
n.3409_3410insAGA
c.3153_3154insAGA (p.Asn1051_Ala1052insArg)
c.669_670insAGA (p.Asn223_Ala224insArg)
c.564_565insAGA (p.Asn188_Ala189insArg)
c.10173_10174insAGA (p.Asn3391_Ala3392insArg)
c.10107_10108insAGA (p.Asn3369_Ala3370insArg)
c.10170_10171insAGA (p.Asn3390_Ala3391insArg)
c.10167_10168insAGA (p.Asn3389_Ala3390insArg)
c.10113_10114insAGA (p.Asn3371_Ala3372insArg)
c.10083_10084insAGA (p.Asn3361_Ala3362insArg)
c.10068_10069insAGA (p.Asn3356_Ala3357insArg)
c.10038_10039insAGA (p.Asn3346_Ala3347insArg)
c.9633_9634insAGA (p.Asn3211_Ala3212insArg)
c.8991_8992insAGA (p.Asn2997_Ala2998insArg)
c.6501_6502insAGA (p.Asn2167_Ala2168insArg)
10g.71815192G>ACA5547233CDH23c.9979G>A (p.Ala3327Thr)
c.3912G>A (n.3912G>A)
c.3471G>A (n.3471G>A)
c.9994G>A (p.Ala3332Thr)
c.3259G>A (p.Ala1087Thr)
n.3410G>A
c.3154G>A (p.Ala1052Thr)
c.670G>A (p.Ala224Thr)
c.565G>A (p.Ala189Thr)
c.10174G>A (p.Ala3392Thr)
c.10108G>A (p.Ala3370Thr)
c.10171G>A (p.Ala3391Thr)
c.10168G>A (p.Ala3390Thr)
c.10114G>A (p.Ala3372Thr)
c.10084G>A (p.Ala3362Thr)
c.10069G>A (p.Ala3357Thr)
c.10039G>A (p.Ala3347Thr)
c.9634G>A (p.Ala3212Thr)
c.8992G>A (p.Ala2998Thr)
c.6502G>A (p.Ala2168Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71815192G>CCA377138880CDH23c.9979G>C (p.Ala3327Pro)
c.3912G>C (n.3912G>C)
c.3471G>C (n.3471G>C)
c.9994G>C (p.Ala3332Pro)
c.3259G>C (p.Ala1087Pro)
n.3410G>C
c.3154G>C (p.Ala1052Pro)
c.670G>C (p.Ala224Pro)
c.565G>C (p.Ala189Pro)
c.10174G>C (p.Ala3392Pro)
c.10108G>C (p.Ala3370Pro)
c.10171G>C (p.Ala3391Pro)
c.10168G>C (p.Ala3390Pro)
c.10114G>C (p.Ala3372Pro)
c.10084G>C (p.Ala3362Pro)
c.10069G>C (p.Ala3357Pro)
c.10039G>C (p.Ala3347Pro)
c.9634G>C (p.Ala3212Pro)
c.8992G>C (p.Ala2998Pro)
c.6502G>C (p.Ala2168Pro)
 dbSNP gnomAD v3 gnomAD v4
10g.71815192G=CA1918895987CDH23c.9979G= (p.Ala3327=)
c.3912G= (n.3912G=)
c.3471G= (n.3471G=)
c.9994G= (p.Ala3332=)
c.3259G= (p.Ala1087=)
n.3410G=
c.3154G= (p.Ala1052=)
c.670G= (p.Ala224=)
c.565G= (p.Ala189=)
c.10174G= (p.Ala3392=)
c.10108G= (p.Ala3370=)
c.10171G= (p.Ala3391=)
c.10168G= (p.Ala3390=)
c.10114G= (p.Ala3372=)
c.10084G= (p.Ala3362=)
c.10069G= (p.Ala3357=)
c.10039G= (p.Ala3347=)
c.9634G= (p.Ala3212=)
c.8992G= (p.Ala2998=)
c.6502G= (p.Ala2168=)
10g.71815192G>TCA377138882CDH23c.9979G>T (p.Ala3327Ser)
c.3912G>T (n.3912G>T)
c.3471G>T (n.3471G>T)
c.9994G>T (p.Ala3332Ser)
c.3259G>T (p.Ala1087Ser)
n.3410G>T
c.3154G>T (p.Ala1052Ser)
c.670G>T (p.Ala224Ser)
c.565G>T (p.Ala189Ser)
c.10174G>T (p.Ala3392Ser)
c.10108G>T (p.Ala3370Ser)
c.10171G>T (p.Ala3391Ser)
c.10168G>T (p.Ala3390Ser)
c.10114G>T (p.Ala3372Ser)
c.10084G>T (p.Ala3362Ser)
c.10069G>T (p.Ala3357Ser)
c.10039G>T (p.Ala3347Ser)
c.9634G>T (p.Ala3212Ser)
c.8992G>T (p.Ala2998Ser)
c.6502G>T (p.Ala2168Ser)
10g.71815193C>ACA377138884CDH23c.9980C>A (p.Ala3327Asp)
c.3913C>A (n.3913C>A)
c.3472C>A (n.3472C>A)
c.9995C>A (p.Ala3332Asp)
c.3260C>A (p.Ala1087Asp)
n.3411C>A
c.3155C>A (p.Ala1052Asp)
c.671C>A (p.Ala224Asp)
c.566C>A (p.Ala189Asp)
c.10175C>A (p.Ala3392Asp)
c.10109C>A (p.Ala3370Asp)
c.10172C>A (p.Ala3391Asp)
c.10169C>A (p.Ala3390Asp)
c.10115C>A (p.Ala3372Asp)
c.10085C>A (p.Ala3362Asp)
c.10070C>A (p.Ala3357Asp)
c.10040C>A (p.Ala3347Asp)
c.9635C>A (p.Ala3212Asp)
c.8993C>A (p.Ala2998Asp)
c.6503C>A (p.Ala2168Asp)
 gnomAD v4
10g.71815193C=CA1918895992CDH23c.9980C= (p.Ala3327=)
c.3913C= (n.3913C=)
c.3472C= (n.3472C=)
c.9995C= (p.Ala3332=)
c.3260C= (p.Ala1087=)
n.3411C=
c.3155C= (p.Ala1052=)
c.671C= (p.Ala224=)
c.566C= (p.Ala189=)
c.10175C= (p.Ala3392=)
c.10109C= (p.Ala3370=)
c.10172C= (p.Ala3391=)
c.10169C= (p.Ala3390=)
c.10115C= (p.Ala3372=)
c.10085C= (p.Ala3362=)
c.10070C= (p.Ala3357=)
c.10040C= (p.Ala3347=)
c.9635C= (p.Ala3212=)
c.8993C= (p.Ala2998=)
c.6503C= (p.Ala2168=)
10g.71815193C>GCA377138886CDH23c.9980C>G (p.Ala3327Gly)
c.3913C>G (n.3913C>G)
c.3472C>G (n.3472C>G)
c.9995C>G (p.Ala3332Gly)
c.3260C>G (p.Ala1087Gly)
n.3411C>G
c.3155C>G (p.Ala1052Gly)
c.671C>G (p.Ala224Gly)
c.566C>G (p.Ala189Gly)
c.10175C>G (p.Ala3392Gly)
c.10109C>G (p.Ala3370Gly)
c.10172C>G (p.Ala3391Gly)
c.10169C>G (p.Ala3390Gly)
c.10115C>G (p.Ala3372Gly)
c.10085C>G (p.Ala3362Gly)
c.10070C>G (p.Ala3357Gly)
c.10040C>G (p.Ala3347Gly)
c.9635C>G (p.Ala3212Gly)
c.8993C>G (p.Ala2998Gly)
c.6503C>G (p.Ala2168Gly)
10g.71815193C>TCA377138887CDH23c.9980C>T (p.Ala3327Val)
c.3913C>T (n.3913C>T)
c.3472C>T (n.3472C>T)
c.9995C>T (p.Ala3332Val)
c.3260C>T (p.Ala1087Val)
n.3411C>T
c.3155C>T (p.Ala1052Val)
c.671C>T (p.Ala224Val)
c.566C>T (p.Ala189Val)
c.10175C>T (p.Ala3392Val)
c.10109C>T (p.Ala3370Val)
c.10172C>T (p.Ala3391Val)
c.10169C>T (p.Ala3390Val)
c.10115C>T (p.Ala3372Val)
c.10085C>T (p.Ala3362Val)
c.10070C>T (p.Ala3357Val)
c.10040C>T (p.Ala3347Val)
c.9635C>T (p.Ala3212Val)
c.8993C>T (p.Ala2998Val)
c.6503C>T (p.Ala2168Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71815194C>ACA470283005CDH23c.9981C>A (p.Ala3327=)
c.3914C>A (n.3914C>A)
c.3473C>A (n.3473C>A)
c.9996C>A (p.Ala3332=)
c.3261C>A (p.Ala1087=)
n.3412C>A
c.3156C>A (p.Ala1052=)
c.672C>A (p.Ala224=)
c.567C>A (p.Ala189=)
c.10176C>A (p.Ala3392=)
c.10110C>A (p.Ala3370=)
c.10173C>A (p.Ala3391=)
c.10170C>A (p.Ala3390=)
c.10116C>A (p.Ala3372=)
c.10086C>A (p.Ala3362=)
c.10071C>A (p.Ala3357=)
c.10041C>A (p.Ala3347=)
c.9636C>A (p.Ala3212=)
c.8994C>A (p.Ala2998=)
c.6504C>A (p.Ala2168=)
10g.71815194C>GCA470283007CDH23c.9981C>G (p.Ala3327=)
c.3914C>G (n.3914C>G)
c.3473C>G (n.3473C>G)
c.9996C>G (p.Ala3332=)
c.3261C>G (p.Ala1087=)
n.3412C>G
c.3156C>G (p.Ala1052=)
c.672C>G (p.Ala224=)
c.567C>G (p.Ala189=)
c.10176C>G (p.Ala3392=)
c.10110C>G (p.Ala3370=)
c.10173C>G (p.Ala3391=)
c.10170C>G (p.Ala3390=)
c.10116C>G (p.Ala3372=)
c.10086C>G (p.Ala3362=)
c.10071C>G (p.Ala3357=)
c.10041C>G (p.Ala3347=)
c.9636C>G (p.Ala3212=)
c.8994C>G (p.Ala2998=)
c.6504C>G (p.Ala2168=)
10g.71815194C>TCA470283009CDH23c.9981C>T (p.Ala3327=)
c.3914C>T (n.3914C>T)
c.3473C>T (n.3473C>T)
c.9996C>T (p.Ala3332=)
c.3261C>T (p.Ala1087=)
n.3412C>T
c.3156C>T (p.Ala1052=)
c.672C>T (p.Ala224=)
c.567C>T (p.Ala189=)
c.10176C>T (p.Ala3392=)
c.10110C>T (p.Ala3370=)
c.10173C>T (p.Ala3391=)
c.10170C>T (p.Ala3390=)
c.10116C>T (p.Ala3372=)
c.10086C>T (p.Ala3362=)
c.10071C>T (p.Ala3357=)
c.10041C>T (p.Ala3347=)
c.9636C>T (p.Ala3212=)
c.8994C>T (p.Ala2998=)
c.6504C>T (p.Ala2168=)
 dbSNP
10g.71815195C>ACA377138891CDH23c.9982C>A (p.Arg3328Ser)
c.3915C>A (n.3915C>A)
c.3474C>A (n.3474C>A)
c.9997C>A (p.Arg3333Ser)
c.3262C>A (p.Arg1088Ser)
n.3413C>A
c.3157C>A (p.Arg1053Ser)
c.673C>A (p.Arg225Ser)
c.568C>A (p.Arg190Ser)
c.10177C>A (p.Arg3393Ser)
c.10111C>A (p.Arg3371Ser)
c.10174C>A (p.Arg3392Ser)
c.10171C>A (p.Arg3391Ser)
c.10117C>A (p.Arg3373Ser)
c.10087C>A (p.Arg3363Ser)
c.10072C>A (p.Arg3358Ser)
c.10042C>A (p.Arg3348Ser)
c.9637C>A (p.Arg3213Ser)
c.8995C>A (p.Arg2999Ser)
c.6505C>A (p.Arg2169Ser)
 gnomAD v4
10g.71815195C=CA1918895996CDH23c.9982C= (p.Arg3328=)
c.3915C= (n.3915C=)
c.3474C= (n.3474C=)
c.9997C= (p.Arg3333=)
c.3262C= (p.Arg1088=)
n.3413C=
c.3157C= (p.Arg1053=)
c.673C= (p.Arg225=)
c.568C= (p.Arg190=)
c.10177C= (p.Arg3393=)
c.10111C= (p.Arg3371=)
c.10174C= (p.Arg3392=)
c.10171C= (p.Arg3391=)
c.10117C= (p.Arg3373=)
c.10087C= (p.Arg3363=)
c.10072C= (p.Arg3358=)
c.10042C= (p.Arg3348=)
c.9637C= (p.Arg3213=)
c.8995C= (p.Arg2999=)
c.6505C= (p.Arg2169=)
10g.71815195C>GCA377138888CDH23c.9982C>G (p.Arg3328Gly)
c.3915C>G (n.3915C>G)
c.3474C>G (n.3474C>G)
c.9997C>G (p.Arg3333Gly)
c.3262C>G (p.Arg1088Gly)
n.3413C>G
c.3157C>G (p.Arg1053Gly)
c.673C>G (p.Arg225Gly)
c.568C>G (p.Arg190Gly)
c.10177C>G (p.Arg3393Gly)
c.10111C>G (p.Arg3371Gly)
c.10174C>G (p.Arg3392Gly)
c.10171C>G (p.Arg3391Gly)
c.10117C>G (p.Arg3373Gly)
c.10087C>G (p.Arg3363Gly)
c.10072C>G (p.Arg3358Gly)
c.10042C>G (p.Arg3348Gly)
c.9637C>G (p.Arg3213Gly)
c.8995C>G (p.Arg2999Gly)
c.6505C>G (p.Arg2169Gly)
10g.71815195C>TCA209447954CDH23c.9982C>T (p.Arg3328Cys)
c.3915C>T (n.3915C>T)
c.3474C>T (n.3474C>T)
c.9997C>T (p.Arg3333Cys)
c.3262C>T (p.Arg1088Cys)
n.3413C>T
c.3157C>T (p.Arg1053Cys)
c.673C>T (p.Arg225Cys)
c.568C>T (p.Arg190Cys)
c.10177C>T (p.Arg3393Cys)
c.10111C>T (p.Arg3371Cys)
c.10174C>T (p.Arg3392Cys)
c.10171C>T (p.Arg3391Cys)
c.10117C>T (p.Arg3373Cys)
c.10087C>T (p.Arg3363Cys)
c.10072C>T (p.Arg3358Cys)
c.10042C>T (p.Arg3348Cys)
c.9637C>T (p.Arg3213Cys)
c.8995C>T (p.Arg2999Cys)
c.6505C>T (p.Arg2169Cys)
 dbSNP gnomAD v2 gnomAD v4
10g.71815196G>ACA5547234CDH23c.9983G>A (p.Arg3328His)
c.3916G>A (n.3916G>A)
c.3475G>A (n.3475G>A)
c.9998G>A (p.Arg3333His)
c.3263G>A (p.Arg1088His)
n.3414G>A
c.3158G>A (p.Arg1053His)
c.674G>A (p.Arg225His)
c.569G>A (p.Arg190His)
c.10178G>A (p.Arg3393His)
c.10112G>A (p.Arg3371His)
c.10175G>A (p.Arg3392His)
c.10172G>A (p.Arg3391His)
c.10118G>A (p.Arg3373His)
c.10088G>A (p.Arg3363His)
c.10073G>A (p.Arg3358His)
c.10043G>A (p.Arg3348His)
c.9638G>A (p.Arg3213His)
c.8996G>A (p.Arg2999His)
c.6506G>A (p.Arg2169His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71815196G>CCA377138894CDH23c.9983G>C (p.Arg3328Pro)
c.3916G>C (n.3916G>C)
c.3475G>C (n.3475G>C)
c.9998G>C (p.Arg3333Pro)
c.3263G>C (p.Arg1088Pro)
n.3414G>C
c.3158G>C (p.Arg1053Pro)
c.674G>C (p.Arg225Pro)
c.569G>C (p.Arg190Pro)
c.10178G>C (p.Arg3393Pro)
c.10112G>C (p.Arg3371Pro)
c.10175G>C (p.Arg3392Pro)
c.10172G>C (p.Arg3391Pro)
c.10118G>C (p.Arg3373Pro)
c.10088G>C (p.Arg3363Pro)
c.10073G>C (p.Arg3358Pro)
c.10043G>C (p.Arg3348Pro)
c.9638G>C (p.Arg3213Pro)
c.8996G>C (p.Arg2999Pro)
c.6506G>C (p.Arg2169Pro)
 dbSNP
10g.71815196G=CA1918896000CDH23c.9983G= (p.Arg3328=)
c.3916G= (n.3916G=)
c.3475G= (n.3475G=)
c.9998G= (p.Arg3333=)
c.3263G= (p.Arg1088=)
n.3414G=
c.3158G= (p.Arg1053=)
c.674G= (p.Arg225=)
c.569G= (p.Arg190=)
c.10178G= (p.Arg3393=)
c.10112G= (p.Arg3371=)
c.10175G= (p.Arg3392=)
c.10172G= (p.Arg3391=)
c.10118G= (p.Arg3373=)
c.10088G= (p.Arg3363=)
c.10073G= (p.Arg3358=)
c.10043G= (p.Arg3348=)
c.9638G= (p.Arg3213=)
c.8996G= (p.Arg2999=)
c.6506G= (p.Arg2169=)
10g.71815196G>TCA377138897CDH23c.9983G>T (p.Arg3328Leu)
c.3916G>T (n.3916G>T)
c.3475G>T (n.3475G>T)
c.9998G>T (p.Arg3333Leu)
c.3263G>T (p.Arg1088Leu)
n.3414G>T
c.3158G>T (p.Arg1053Leu)
c.674G>T (p.Arg225Leu)
c.569G>T (p.Arg190Leu)
c.10178G>T (p.Arg3393Leu)
c.10112G>T (p.Arg3371Leu)
c.10175G>T (p.Arg3392Leu)
c.10172G>T (p.Arg3391Leu)
c.10118G>T (p.Arg3373Leu)
c.10088G>T (p.Arg3363Leu)
c.10073G>T (p.Arg3358Leu)
c.10043G>T (p.Arg3348Leu)
c.9638G>T (p.Arg3213Leu)
c.8996G>T (p.Arg2999Leu)
c.6506G>T (p.Arg2169Leu)
10g.71815197C>ACA470283013CDH23c.9984C>A (p.Arg3328=)
c.3917C>A (n.3917C>A)
c.3476C>A (n.3476C>A)
c.9999C>A (p.Arg3333=)
c.3264C>A (p.Arg1088=)
n.3415C>A
c.3159C>A (p.Arg1053=)
c.675C>A (p.Arg225=)
c.570C>A (p.Arg190=)
c.10179C>A (p.Arg3393=)
c.10113C>A (p.Arg3371=)
c.10176C>A (p.Arg3392=)
c.10173C>A (p.Arg3391=)
c.10119C>A (p.Arg3373=)
c.10089C>A (p.Arg3363=)
c.10074C>A (p.Arg3358=)
c.10044C>A (p.Arg3348=)
c.9639C>A (p.Arg3213=)
c.8997C>A (p.Arg2999=)
c.6507C>A (p.Arg2169=)
10g.71815197C>GCA470283014CDH23c.9984C>G (p.Arg3328=)
c.3917C>G (n.3917C>G)
c.3476C>G (n.3476C>G)
c.9999C>G (p.Arg3333=)
c.3264C>G (p.Arg1088=)
n.3415C>G
c.3159C>G (p.Arg1053=)
c.675C>G (p.Arg225=)
c.570C>G (p.Arg190=)
c.10179C>G (p.Arg3393=)
c.10113C>G (p.Arg3371=)
c.10176C>G (p.Arg3392=)
c.10173C>G (p.Arg3391=)
c.10119C>G (p.Arg3373=)
c.10089C>G (p.Arg3363=)
c.10074C>G (p.Arg3358=)
c.10044C>G (p.Arg3348=)
c.9639C>G (p.Arg3213=)
c.8997C>G (p.Arg2999=)
c.6507C>G (p.Arg2169=)
10g.71815197C>TCA470283015CDH23c.9984C>T (p.Arg3328=)
c.3917C>T (n.3917C>T)
c.3476C>T (n.3476C>T)
c.9999C>T (p.Arg3333=)
c.3264C>T (p.Arg1088=)
n.3415C>T
c.3159C>T (p.Arg1053=)
c.675C>T (p.Arg225=)
c.570C>T (p.Arg190=)
c.10179C>T (p.Arg3393=)
c.10113C>T (p.Arg3371=)
c.10176C>T (p.Arg3392=)
c.10173C>T (p.Arg3391=)
c.10119C>T (p.Arg3373=)
c.10089C>T (p.Arg3363=)
c.10074C>T (p.Arg3358=)
c.10044C>T (p.Arg3348=)
c.9639C>T (p.Arg3213=)
c.8997C>T (p.Arg2999=)
c.6507C>T (p.Arg2169=)
 ClinVar dbSNP gnomAD v4
10g.71815198A=CA1918896005CDH23c.9985A= (p.Thr3329=)
c.3918A= (n.3918A=)
c.3477A= (n.3477A=)
c.10000A= (p.Thr3334=)
c.3265A= (p.Thr1089=)
n.3416A=
c.3160A= (p.Thr1054=)
c.676A= (p.Thr226=)
c.571A= (p.Thr191=)
c.10180A= (p.Thr3394=)
c.10114A= (p.Thr3372=)
c.10177A= (p.Thr3393=)
c.10174A= (p.Thr3392=)
c.10120A= (p.Thr3374=)
c.10090A= (p.Thr3364=)
c.10075A= (p.Thr3359=)
c.10045A= (p.Thr3349=)
c.9640A= (p.Thr3214=)
c.8998A= (p.Thr3000=)
c.6508A= (p.Thr2170=)
10g.71815198A>CCA377138902CDH23c.9985A>C (p.Thr3329Pro)
c.3918A>C (n.3918A>C)
c.3477A>C (n.3477A>C)
c.10000A>C (p.Thr3334Pro)
c.3265A>C (p.Thr1089Pro)
n.3416A>C
c.3160A>C (p.Thr1054Pro)
c.676A>C (p.Thr226Pro)
c.571A>C (p.Thr191Pro)
c.10180A>C (p.Thr3394Pro)
c.10114A>C (p.Thr3372Pro)
c.10177A>C (p.Thr3393Pro)
c.10174A>C (p.Thr3392Pro)
c.10120A>C (p.Thr3374Pro)
c.10090A>C (p.Thr3364Pro)
c.10075A>C (p.Thr3359Pro)
c.10045A>C (p.Thr3349Pro)
c.9640A>C (p.Thr3214Pro)
c.8998A>C (p.Thr3000Pro)
c.6508A>C (p.Thr2170Pro)
 dbSNP
10g.71815198A>GCA377138903CDH23c.9985A>G (p.Thr3329Ala)
c.3918A>G (n.3918A>G)
c.3477A>G (n.3477A>G)
c.10000A>G (p.Thr3334Ala)
c.3265A>G (p.Thr1089Ala)
n.3416A>G
c.3160A>G (p.Thr1054Ala)
c.676A>G (p.Thr226Ala)
c.571A>G (p.Thr191Ala)
c.10180A>G (p.Thr3394Ala)
c.10114A>G (p.Thr3372Ala)
c.10177A>G (p.Thr3393Ala)
c.10174A>G (p.Thr3392Ala)
c.10120A>G (p.Thr3374Ala)
c.10090A>G (p.Thr3364Ala)
c.10075A>G (p.Thr3359Ala)
c.10045A>G (p.Thr3349Ala)
c.9640A>G (p.Thr3214Ala)
c.8998A>G (p.Thr3000Ala)
c.6508A>G (p.Thr2170Ala)
 gnomAD v4
10g.71815198A>TCA377138905CDH23c.9985A>T (p.Thr3329Ser)
c.3918A>T (n.3918A>T)
c.3477A>T (n.3477A>T)
c.10000A>T (p.Thr3334Ser)
c.3265A>T (p.Thr1089Ser)
n.3416A>T
c.3160A>T (p.Thr1054Ser)
c.676A>T (p.Thr226Ser)
c.571A>T (p.Thr191Ser)
c.10180A>T (p.Thr3394Ser)
c.10114A>T (p.Thr3372Ser)
c.10177A>T (p.Thr3393Ser)
c.10174A>T (p.Thr3392Ser)
c.10120A>T (p.Thr3374Ser)
c.10090A>T (p.Thr3364Ser)
c.10075A>T (p.Thr3359Ser)
c.10045A>T (p.Thr3349Ser)
c.9640A>T (p.Thr3214Ser)
c.8998A>T (p.Thr3000Ser)
c.6508A>T (p.Thr2170Ser)
10g.71815199C>ACA377138907CDH23c.9986C>A (p.Thr3329Lys)
c.3919C>A (n.3919C>A)
c.3478C>A (n.3478C>A)
c.10001C>A (p.Thr3334Lys)
c.3266C>A (p.Thr1089Lys)
n.3417C>A
c.3161C>A (p.Thr1054Lys)
c.677C>A (p.Thr226Lys)
c.572C>A (p.Thr191Lys)
c.10181C>A (p.Thr3394Lys)
c.10115C>A (p.Thr3372Lys)
c.10178C>A (p.Thr3393Lys)
c.10175C>A (p.Thr3392Lys)
c.10121C>A (p.Thr3374Lys)
c.10091C>A (p.Thr3364Lys)
c.10076C>A (p.Thr3359Lys)
c.10046C>A (p.Thr3349Lys)
c.9641C>A (p.Thr3214Lys)
c.8999C>A (p.Thr3000Lys)
c.6509C>A (p.Thr2170Lys)
10g.71815199C>GCA377138910CDH23c.9986C>G (p.Thr3329Arg)
c.3919C>G (n.3919C>G)
c.3478C>G (n.3478C>G)
c.10001C>G (p.Thr3334Arg)
c.3266C>G (p.Thr1089Arg)
n.3417C>G
c.3161C>G (p.Thr1054Arg)
c.677C>G (p.Thr226Arg)
c.572C>G (p.Thr191Arg)
c.10181C>G (p.Thr3394Arg)
c.10115C>G (p.Thr3372Arg)
c.10178C>G (p.Thr3393Arg)
c.10175C>G (p.Thr3392Arg)
c.10121C>G (p.Thr3374Arg)
c.10091C>G (p.Thr3364Arg)
c.10076C>G (p.Thr3359Arg)
c.10046C>G (p.Thr3349Arg)
c.9641C>G (p.Thr3214Arg)
c.8999C>G (p.Thr3000Arg)
c.6509C>G (p.Thr2170Arg)
 gnomAD v4
10g.71815199C>TCA377138911CDH23c.9986C>T (p.Thr3329Ile)
c.3919C>T (n.3919C>T)
c.3478C>T (n.3478C>T)
c.10001C>T (p.Thr3334Ile)
c.3266C>T (p.Thr1089Ile)
n.3417C>T
c.3161C>T (p.Thr1054Ile)
c.677C>T (p.Thr226Ile)
c.572C>T (p.Thr191Ile)
c.10181C>T (p.Thr3394Ile)
c.10115C>T (p.Thr3372Ile)
c.10178C>T (p.Thr3393Ile)
c.10175C>T (p.Thr3392Ile)
c.10121C>T (p.Thr3374Ile)
c.10091C>T (p.Thr3364Ile)
c.10076C>T (p.Thr3359Ile)
c.10046C>T (p.Thr3349Ile)
c.9641C>T (p.Thr3214Ile)
c.8999C>T (p.Thr3000Ile)
c.6509C>T (p.Thr2170Ile)
10g.71815200A=CA1918896011CDH23c.9987A= (p.Thr3329=)
c.3920A= (n.3920A=)
c.3479A= (n.3479A=)
c.10002A= (p.Thr3334=)
c.3267A= (p.Thr1089=)
n.3418A=
c.3162A= (p.Thr1054=)
c.678A= (p.Thr226=)
c.573A= (p.Thr191=)
c.10182A= (p.Thr3394=)
c.10116A= (p.Thr3372=)
c.10179A= (p.Thr3393=)
c.10176A= (p.Thr3392=)
c.10122A= (p.Thr3374=)
c.10092A= (p.Thr3364=)
c.10077A= (p.Thr3359=)
c.10047A= (p.Thr3349=)
c.9642A= (p.Thr3214=)
c.9000A= (p.Thr3000=)
c.6510A= (p.Thr2170=)
10g.71815200A>CCA470283036CDH23c.9987A>C (p.Thr3329=)
c.3920A>C (n.3920A>C)
c.3479A>C (n.3479A>C)
c.10002A>C (p.Thr3334=)
c.3267A>C (p.Thr1089=)
n.3418A>C
c.3162A>C (p.Thr1054=)
c.678A>C (p.Thr226=)
c.573A>C (p.Thr191=)
c.10182A>C (p.Thr3394=)
c.10116A>C (p.Thr3372=)
c.10179A>C (p.Thr3393=)
c.10176A>C (p.Thr3392=)
c.10122A>C (p.Thr3374=)
c.10092A>C (p.Thr3364=)
c.10077A>C (p.Thr3359=)
c.10047A>C (p.Thr3349=)
c.9642A>C (p.Thr3214=)
c.9000A>C (p.Thr3000=)
c.6510A>C (p.Thr2170=)
10g.71815200A>GCA470283033CDH23c.9987A>G (p.Thr3329=)
c.3920A>G (n.3920A>G)
c.3479A>G (n.3479A>G)
c.10002A>G (p.Thr3334=)
c.3267A>G (p.Thr1089=)
n.3418A>G
c.3162A>G (p.Thr1054=)
c.678A>G (p.Thr226=)
c.573A>G (p.Thr191=)
c.10182A>G (p.Thr3394=)
c.10116A>G (p.Thr3372=)
c.10179A>G (p.Thr3393=)
c.10176A>G (p.Thr3392=)
c.10122A>G (p.Thr3374=)
c.10092A>G (p.Thr3364=)
c.10077A>G (p.Thr3359=)
c.10047A>G (p.Thr3349=)
c.9642A>G (p.Thr3214=)
c.9000A>G (p.Thr3000=)
c.6510A>G (p.Thr2170=)
 ClinVar dbSNP
10g.71815200A>TCA470283035CDH23c.9987A>T (p.Thr3329=)
c.3920A>T (n.3920A>T)
c.3479A>T (n.3479A>T)
c.10002A>T (p.Thr3334=)
c.3267A>T (p.Thr1089=)
n.3418A>T
c.3162A>T (p.Thr1054=)
c.678A>T (p.Thr226=)
c.573A>T (p.Thr191=)
c.10182A>T (p.Thr3394=)
c.10116A>T (p.Thr3372=)
c.10179A>T (p.Thr3393=)
c.10176A>T (p.Thr3392=)
c.10122A>T (p.Thr3374=)
c.10092A>T (p.Thr3364=)
c.10077A>T (p.Thr3359=)
c.10047A>T (p.Thr3349=)
c.9642A>T (p.Thr3214=)
c.9000A>T (p.Thr3000=)
c.6510A>T (p.Thr2170=)
10g.71815201G>ACA377138914CDH23c.9988G>A (p.Glu3330Lys)
c.3921G>A (n.3921G>A)
c.3480G>A (n.3480G>A)
c.10003G>A (p.Glu3335Lys)
c.3268G>A (p.Glu1090Lys)
n.3419G>A
c.3163G>A (p.Glu1055Lys)
c.679G>A (p.Glu227Lys)
c.574G>A (p.Glu192Lys)
c.10183G>A (p.Glu3395Lys)
c.10117G>A (p.Glu3373Lys)
c.10180G>A (p.Glu3394Lys)
c.10177G>A (p.Glu3393Lys)
c.10123G>A (p.Glu3375Lys)
c.10093G>A (p.Glu3365Lys)
c.10078G>A (p.Glu3360Lys)
c.10048G>A (p.Glu3350Lys)
c.9643G>A (p.Glu3215Lys)
c.9001G>A (p.Glu3001Lys)
c.6511G>A (p.Glu2171Lys)
 dbSNP
10g.71815201G>CCA377138917CDH23c.9988G>C (p.Glu3330Gln)
c.3921G>C (n.3921G>C)
c.3480G>C (n.3480G>C)
c.10003G>C (p.Glu3335Gln)
c.3268G>C (p.Glu1090Gln)
n.3419G>C
c.3163G>C (p.Glu1055Gln)
c.679G>C (p.Glu227Gln)
c.574G>C (p.Glu192Gln)
c.10183G>C (p.Glu3395Gln)
c.10117G>C (p.Glu3373Gln)
c.10180G>C (p.Glu3394Gln)
c.10177G>C (p.Glu3393Gln)
c.10123G>C (p.Glu3375Gln)
c.10093G>C (p.Glu3365Gln)
c.10078G>C (p.Glu3360Gln)
c.10048G>C (p.Glu3350Gln)
c.9643G>C (p.Glu3215Gln)
c.9001G>C (p.Glu3001Gln)
c.6511G>C (p.Glu2171Gln)
 gnomAD v4
10g.71815201G>TCA377138921CDH23c.9988G>T (p.Glu3330Ter)
c.3921G>T (n.3921G>T)
c.3480G>T (n.3480G>T)
c.10003G>T (p.Glu3335Ter)
c.3268G>T (p.Glu1090Ter)
n.3419G>T
c.3163G>T (p.Glu1055Ter)
c.679G>T (p.Glu227Ter)
c.574G>T (p.Glu192Ter)
c.10183G>T (p.Glu3395Ter)
c.10117G>T (p.Glu3373Ter)
c.10180G>T (p.Glu3394Ter)
c.10177G>T (p.Glu3393Ter)
c.10123G>T (p.Glu3375Ter)
c.10093G>T (p.Glu3365Ter)
c.10078G>T (p.Glu3360Ter)
c.10048G>T (p.Glu3350Ter)
c.9643G>T (p.Glu3215Ter)
c.9001G>T (p.Glu3001Ter)
c.6511G>T (p.Glu2171Ter)
10g.71815202A=CA1918896016CDH23c.9989A= (p.Glu3330=)
c.3922A= (n.3922A=)
c.3481A= (n.3481A=)
c.10004A= (p.Glu3335=)
c.3269A= (p.Glu1090=)
n.3420A=
c.3164A= (p.Glu1055=)
c.680A= (p.Glu227=)
c.575A= (p.Glu192=)
c.10184A= (p.Glu3395=)
c.10118A= (p.Glu3373=)
c.10181A= (p.Glu3394=)
c.10178A= (p.Glu3393=)
c.10124A= (p.Glu3375=)
c.10094A= (p.Glu3365=)
c.10079A= (p.Glu3360=)
c.10049A= (p.Glu3350=)
c.9644A= (p.Glu3215=)
c.9002A= (p.Glu3001=)
c.6512A= (p.Glu2171=)
10g.71815202A>CCA377138927CDH23c.9989A>C (p.Glu3330Ala)
c.3922A>C (n.3922A>C)
c.3481A>C (n.3481A>C)
c.10004A>C (p.Glu3335Ala)
c.3269A>C (p.Glu1090Ala)
n.3420A>C
c.3164A>C (p.Glu1055Ala)
c.680A>C (p.Glu227Ala)
c.575A>C (p.Glu192Ala)
c.10184A>C (p.Glu3395Ala)
c.10118A>C (p.Glu3373Ala)
c.10181A>C (p.Glu3394Ala)
c.10178A>C (p.Glu3393Ala)
c.10124A>C (p.Glu3375Ala)
c.10094A>C (p.Glu3365Ala)
c.10079A>C (p.Glu3360Ala)
c.10049A>C (p.Glu3350Ala)
c.9644A>C (p.Glu3215Ala)
c.9002A>C (p.Glu3001Ala)
c.6512A>C (p.Glu2171Ala)
10g.71815202A>GCA5547235CDH23c.9989A>G (p.Glu3330Gly)
c.3922A>G (n.3922A>G)
c.3481A>G (n.3481A>G)
c.10004A>G (p.Glu3335Gly)
c.3269A>G (p.Glu1090Gly)
n.3420A>G
c.3164A>G (p.Glu1055Gly)
c.680A>G (p.Glu227Gly)
c.575A>G (p.Glu192Gly)
c.10184A>G (p.Glu3395Gly)
c.10118A>G (p.Glu3373Gly)
c.10181A>G (p.Glu3394Gly)
c.10178A>G (p.Glu3393Gly)
c.10124A>G (p.Glu3375Gly)
c.10094A>G (p.Glu3365Gly)
c.10079A>G (p.Glu3360Gly)
c.10049A>G (p.Glu3350Gly)
c.9644A>G (p.Glu3215Gly)
c.9002A>G (p.Glu3001Gly)
c.6512A>G (p.Glu2171Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71815202A>TCA377138924CDH23c.9989A>T (p.Glu3330Val)
c.3922A>T (n.3922A>T)
c.3481A>T (n.3481A>T)
c.10004A>T (p.Glu3335Val)
c.3269A>T (p.Glu1090Val)
n.3420A>T
c.3164A>T (p.Glu1055Val)
c.680A>T (p.Glu227Val)
c.575A>T (p.Glu192Val)
c.10184A>T (p.Glu3395Val)
c.10118A>T (p.Glu3373Val)
c.10181A>T (p.Glu3394Val)
c.10178A>T (p.Glu3393Val)
c.10124A>T (p.Glu3375Val)
c.10094A>T (p.Glu3365Val)
c.10079A>T (p.Glu3360Val)
c.10049A>T (p.Glu3350Val)
c.9644A>T (p.Glu3215Val)
c.9002A>T (p.Glu3001Val)
c.6512A>T (p.Glu2171Val)
10g.71815203A>CCA377138930CDH23c.9990A>C (p.Glu3330Asp)
c.3923A>C (n.3923A>C)
c.3482A>C (n.3482A>C)
c.10005A>C (p.Glu3335Asp)
c.3270A>C (p.Glu1090Asp)
n.3421A>C
c.3165A>C (p.Glu1055Asp)
c.681A>C (p.Glu227Asp)
c.576A>C (p.Glu192Asp)
c.10185A>C (p.Glu3395Asp)
c.10119A>C (p.Glu3373Asp)
c.10182A>C (p.Glu3394Asp)
c.10179A>C (p.Glu3393Asp)
c.10125A>C (p.Glu3375Asp)
c.10095A>C (p.Glu3365Asp)
c.10080A>C (p.Glu3360Asp)
c.10050A>C (p.Glu3350Asp)
c.9645A>C (p.Glu3215Asp)
c.9003A>C (p.Glu3001Asp)
c.6513A>C (p.Glu2171Asp)
 dbSNP
10g.71815203A>GCA470283037CDH23c.9990A>G (p.Glu3330=)
c.3923A>G (n.3923A>G)
c.3482A>G (n.3482A>G)
c.10005A>G (p.Glu3335=)
c.3270A>G (p.Glu1090=)
n.3421A>G
c.3165A>G (p.Glu1055=)
c.681A>G (p.Glu227=)
c.576A>G (p.Glu192=)
c.10185A>G (p.Glu3395=)
c.10119A>G (p.Glu3373=)
c.10182A>G (p.Glu3394=)
c.10179A>G (p.Glu3393=)
c.10125A>G (p.Glu3375=)
c.10095A>G (p.Glu3365=)
c.10080A>G (p.Glu3360=)
c.10050A>G (p.Glu3350=)
c.9645A>G (p.Glu3215=)
c.9003A>G (p.Glu3001=)
c.6513A>G (p.Glu2171=)
10g.71815203A>TCA377138933CDH23c.9990A>T (p.Glu3330Asp)
c.3923A>T (n.3923A>T)
c.3482A>T (n.3482A>T)
c.10005A>T (p.Glu3335Asp)
c.3270A>T (p.Glu1090Asp)
n.3421A>T
c.3165A>T (p.Glu1055Asp)
c.681A>T (p.Glu227Asp)
c.576A>T (p.Glu192Asp)
c.10185A>T (p.Glu3395Asp)
c.10119A>T (p.Glu3373Asp)
c.10182A>T (p.Glu3394Asp)
c.10179A>T (p.Glu3393Asp)
c.10125A>T (p.Glu3375Asp)
c.10095A>T (p.Glu3365Asp)
c.10080A>T (p.Glu3360Asp)
c.10050A>T (p.Glu3350Asp)
c.9645A>T (p.Glu3215Asp)
c.9003A>T (p.Glu3001Asp)
c.6513A>T (p.Glu2171Asp)

Number of alleles fetched