Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71807615_71807627delCA645559624CDH23c.8408_8420del (p.Val2803AlafsTer30)
c.2341_2353del (n.2341_2353del)
c.2005_2017del (n.2005_2017del)
c.8423_8435del (p.Val2808AlafsTer30)
c.1688_1700del (p.Val563AlafsTer30)
n.1944_1956del
c.8603_8615del (p.Val2868AlafsTer30)
c.8537_8549del (p.Val2846AlafsTer30)
c.8600_8612del (p.Val2867AlafsTer30)
c.8597_8609del (p.Val2866AlafsTer30)
c.8543_8555del (p.Val2848AlafsTer30)
c.8513_8525del (p.Val2838AlafsTer30)
c.8468_8480del (p.Val2823AlafsTer30)
c.8063_8075del (p.Val2688AlafsTer30)
c.7421_7433del (p.Val2474AlafsTer30)
c.4931_4943del (p.Val1644AlafsTer30)
 COSMIC
10g.71807623T>ACA209437115CDH23c.8416T>A (p.Ser2806Thr)
c.2349T>A (n.2349T>A)
c.2013T>A (n.2013T>A)
c.8431T>A (p.Ser2811Thr)
c.1696T>A (p.Ser566Thr)
n.1952T>A
c.8611T>A (p.Ser2871Thr)
c.8545T>A (p.Ser2849Thr)
c.8608T>A (p.Ser2870Thr)
c.8605T>A (p.Ser2869Thr)
c.8551T>A (p.Ser2851Thr)
c.8521T>A (p.Ser2841Thr)
c.8476T>A (p.Ser2826Thr)
c.8071T>A (p.Ser2691Thr)
c.7429T>A (p.Ser2477Thr)
c.4939T>A (p.Ser1647Thr)
 ClinVar dbSNP
10g.71807623T>CCA377131498CDH23c.8416T>C (p.Ser2806Pro)
c.2349T>C (n.2349T>C)
c.2013T>C (n.2013T>C)
c.8431T>C (p.Ser2811Pro)
c.1696T>C (p.Ser566Pro)
n.1952T>C
c.8611T>C (p.Ser2871Pro)
c.8545T>C (p.Ser2849Pro)
c.8608T>C (p.Ser2870Pro)
c.8605T>C (p.Ser2869Pro)
c.8551T>C (p.Ser2851Pro)
c.8521T>C (p.Ser2841Pro)
c.8476T>C (p.Ser2826Pro)
c.8071T>C (p.Ser2691Pro)
c.7429T>C (p.Ser2477Pro)
c.4939T>C (p.Ser1647Pro)
10g.71807623T>GCA377131499CDH23c.8416T>G (p.Ser2806Ala)
c.2349T>G (n.2349T>G)
c.2013T>G (n.2013T>G)
c.8431T>G (p.Ser2811Ala)
c.1696T>G (p.Ser566Ala)
n.1952T>G
c.8611T>G (p.Ser2871Ala)
c.8545T>G (p.Ser2849Ala)
c.8608T>G (p.Ser2870Ala)
c.8605T>G (p.Ser2869Ala)
c.8551T>G (p.Ser2851Ala)
c.8521T>G (p.Ser2841Ala)
c.8476T>G (p.Ser2826Ala)
c.8071T>G (p.Ser2691Ala)
c.7429T>G (p.Ser2477Ala)
c.4939T>G (p.Ser1647Ala)
10g.71807623T=CA1918886561CDH23c.8416T= (p.Ser2806=)
c.2349T= (n.2349T=)
c.2013T= (n.2013T=)
c.8431T= (p.Ser2811=)
c.1696T= (p.Ser566=)
n.1952T=
c.8611T= (p.Ser2871=)
c.8545T= (p.Ser2849=)
c.8608T= (p.Ser2870=)
c.8605T= (p.Ser2869=)
c.8551T= (p.Ser2851=)
c.8521T= (p.Ser2841=)
c.8476T= (p.Ser2826=)
c.8071T= (p.Ser2691=)
c.7429T= (p.Ser2477=)
c.4939T= (p.Ser1647=)
10g.71807624C>ACA377131500CDH23c.8417C>A (p.Ser2806Tyr)
c.2350C>A (n.2350C>A)
c.2014C>A (n.2014C>A)
c.8432C>A (p.Ser2811Tyr)
c.1697C>A (p.Ser566Tyr)
n.1953C>A
c.8612C>A (p.Ser2871Tyr)
c.8546C>A (p.Ser2849Tyr)
c.8609C>A (p.Ser2870Tyr)
c.8606C>A (p.Ser2869Tyr)
c.8552C>A (p.Ser2851Tyr)
c.8522C>A (p.Ser2841Tyr)
c.8477C>A (p.Ser2826Tyr)
c.8072C>A (p.Ser2691Tyr)
c.7430C>A (p.Ser2477Tyr)
c.4940C>A (p.Ser1647Tyr)
 COSMIC
10g.71807624C>GCA377131501CDH23c.8417C>G (p.Ser2806Cys)
c.2350C>G (n.2350C>G)
c.2014C>G (n.2014C>G)
c.8432C>G (p.Ser2811Cys)
c.1697C>G (p.Ser566Cys)
n.1953C>G
c.8612C>G (p.Ser2871Cys)
c.8546C>G (p.Ser2849Cys)
c.8609C>G (p.Ser2870Cys)
c.8606C>G (p.Ser2869Cys)
c.8552C>G (p.Ser2851Cys)
c.8522C>G (p.Ser2841Cys)
c.8477C>G (p.Ser2826Cys)
c.8072C>G (p.Ser2691Cys)
c.7430C>G (p.Ser2477Cys)
c.4940C>G (p.Ser1647Cys)
10g.71807624C>TCA377131502CDH23c.8417C>T (p.Ser2806Phe)
c.2350C>T (n.2350C>T)
c.2014C>T (n.2014C>T)
c.8432C>T (p.Ser2811Phe)
c.1697C>T (p.Ser566Phe)
n.1953C>T
c.8612C>T (p.Ser2871Phe)
c.8546C>T (p.Ser2849Phe)
c.8609C>T (p.Ser2870Phe)
c.8606C>T (p.Ser2869Phe)
c.8552C>T (p.Ser2851Phe)
c.8522C>T (p.Ser2841Phe)
c.8477C>T (p.Ser2826Phe)
c.8072C>T (p.Ser2691Phe)
c.7430C>T (p.Ser2477Phe)
c.4940C>T (p.Ser1647Phe)
10g.71807625C>ACA470282469CDH23c.8418C>A (p.Ser2806=)
c.2351C>A (n.2351C>A)
c.2015C>A (n.2015C>A)
c.8433C>A (p.Ser2811=)
c.1698C>A (p.Ser566=)
n.1954C>A
c.8613C>A (p.Ser2871=)
c.8547C>A (p.Ser2849=)
c.8610C>A (p.Ser2870=)
c.8607C>A (p.Ser2869=)
c.8553C>A (p.Ser2851=)
c.8523C>A (p.Ser2841=)
c.8478C>A (p.Ser2826=)
c.8073C>A (p.Ser2691=)
c.7431C>A (p.Ser2477=)
c.4941C>A (p.Ser1647=)
10g.71807625C>GCA470282473CDH23c.8418C>G (p.Ser2806=)
c.2351C>G (n.2351C>G)
c.2015C>G (n.2015C>G)
c.8433C>G (p.Ser2811=)
c.1698C>G (p.Ser566=)
n.1954C>G
c.8613C>G (p.Ser2871=)
c.8547C>G (p.Ser2849=)
c.8610C>G (p.Ser2870=)
c.8607C>G (p.Ser2869=)
c.8553C>G (p.Ser2851=)
c.8523C>G (p.Ser2841=)
c.8478C>G (p.Ser2826=)
c.8073C>G (p.Ser2691=)
c.7431C>G (p.Ser2477=)
c.4941C>G (p.Ser1647=)
10g.71807625C>TCA470282471CDH23c.8418C>T (p.Ser2806=)
c.2351C>T (n.2351C>T)
c.2015C>T (n.2015C>T)
c.8433C>T (p.Ser2811=)
c.1698C>T (p.Ser566=)
n.1954C>T
c.8613C>T (p.Ser2871=)
c.8547C>T (p.Ser2849=)
c.8610C>T (p.Ser2870=)
c.8607C>T (p.Ser2869=)
c.8553C>T (p.Ser2851=)
c.8523C>T (p.Ser2841=)
c.8478C>T (p.Ser2826=)
c.8073C>T (p.Ser2691=)
c.7431C>T (p.Ser2477=)
c.4941C>T (p.Ser1647=)
10g.71807626A>CCA377131503CDH23c.8419A>C (p.Ser2807Arg)
c.2352A>C (n.2352A>C)
c.2016A>C (n.2016A>C)
c.8434A>C (p.Ser2812Arg)
c.1699A>C (p.Ser567Arg)
n.1955A>C
c.8614A>C (p.Ser2872Arg)
c.8548A>C (p.Ser2850Arg)
c.8611A>C (p.Ser2871Arg)
c.8608A>C (p.Ser2870Arg)
c.8554A>C (p.Ser2852Arg)
c.8524A>C (p.Ser2842Arg)
c.8479A>C (p.Ser2827Arg)
c.8074A>C (p.Ser2692Arg)
c.7432A>C (p.Ser2478Arg)
c.4942A>C (p.Ser1648Arg)
10g.71807626A>GCA377131505CDH23c.8419A>G (p.Ser2807Gly)
c.2352A>G (n.2352A>G)
c.2016A>G (n.2016A>G)
c.8434A>G (p.Ser2812Gly)
c.1699A>G (p.Ser567Gly)
n.1955A>G
c.8614A>G (p.Ser2872Gly)
c.8548A>G (p.Ser2850Gly)
c.8611A>G (p.Ser2871Gly)
c.8608A>G (p.Ser2870Gly)
c.8554A>G (p.Ser2852Gly)
c.8524A>G (p.Ser2842Gly)
c.8479A>G (p.Ser2827Gly)
c.8074A>G (p.Ser2692Gly)
c.7432A>G (p.Ser2478Gly)
c.4942A>G (p.Ser1648Gly)
10g.71807626A>TCA377131504CDH23c.8419A>T (p.Ser2807Cys)
c.2352A>T (n.2352A>T)
c.2016A>T (n.2016A>T)
c.8434A>T (p.Ser2812Cys)
c.1699A>T (p.Ser567Cys)
n.1955A>T
c.8614A>T (p.Ser2872Cys)
c.8548A>T (p.Ser2850Cys)
c.8611A>T (p.Ser2871Cys)
c.8608A>T (p.Ser2870Cys)
c.8554A>T (p.Ser2852Cys)
c.8524A>T (p.Ser2842Cys)
c.8479A>T (p.Ser2827Cys)
c.8074A>T (p.Ser2692Cys)
c.7432A>T (p.Ser2478Cys)
c.4942A>T (p.Ser1648Cys)
10g.71807627G>ACA377131506CDH23c.8420G>A (p.Ser2807Asn)
c.2353G>A (n.2353G>A)
c.2017G>A (n.2017G>A)
c.8435G>A (p.Ser2812Asn)
c.1700G>A (p.Ser567Asn)
n.1956G>A
c.8615G>A (p.Ser2872Asn)
c.8549G>A (p.Ser2850Asn)
c.8612G>A (p.Ser2871Asn)
c.8609G>A (p.Ser2870Asn)
c.8555G>A (p.Ser2852Asn)
c.8525G>A (p.Ser2842Asn)
c.8480G>A (p.Ser2827Asn)
c.8075G>A (p.Ser2692Asn)
c.7433G>A (p.Ser2478Asn)
c.4943G>A (p.Ser1648Asn)
 ClinVar dbSNP
10g.71807627G>CCA377131507CDH23c.8420G>C (p.Ser2807Thr)
c.2353G>C (n.2353G>C)
c.2017G>C (n.2017G>C)
c.8435G>C (p.Ser2812Thr)
c.1700G>C (p.Ser567Thr)
n.1956G>C
c.8615G>C (p.Ser2872Thr)
c.8549G>C (p.Ser2850Thr)
c.8612G>C (p.Ser2871Thr)
c.8609G>C (p.Ser2870Thr)
c.8555G>C (p.Ser2852Thr)
c.8525G>C (p.Ser2842Thr)
c.8480G>C (p.Ser2827Thr)
c.8075G>C (p.Ser2692Thr)
c.7433G>C (p.Ser2478Thr)
c.4943G>C (p.Ser1648Thr)
10g.71807627G=CA1918886562CDH23c.8420G= (p.Ser2807=)
c.2353G= (n.2353G=)
c.2017G= (n.2017G=)
c.8435G= (p.Ser2812=)
c.1700G= (p.Ser567=)
n.1956G=
c.8615G= (p.Ser2872=)
c.8549G= (p.Ser2850=)
c.8612G= (p.Ser2871=)
c.8609G= (p.Ser2870=)
c.8555G= (p.Ser2852=)
c.8525G= (p.Ser2842=)
c.8480G= (p.Ser2827=)
c.8075G= (p.Ser2692=)
c.7433G= (p.Ser2478=)
c.4943G= (p.Ser1648=)
10g.71807627G>TCA377131508CDH23c.8420G>T (p.Ser2807Ile)
c.2353G>T (n.2353G>T)
c.2017G>T (n.2017G>T)
c.8435G>T (p.Ser2812Ile)
c.1700G>T (p.Ser567Ile)
n.1956G>T
c.8615G>T (p.Ser2872Ile)
c.8549G>T (p.Ser2850Ile)
c.8612G>T (p.Ser2871Ile)
c.8609G>T (p.Ser2870Ile)
c.8555G>T (p.Ser2852Ile)
c.8525G>T (p.Ser2842Ile)
c.8480G>T (p.Ser2827Ile)
c.8075G>T (p.Ser2692Ile)
c.7433G>T (p.Ser2478Ile)
c.4943G>T (p.Ser1648Ile)
 COSMIC
10g.71807628C>ACA377131509CDH23c.8421C>A (p.Ser2807Arg)
c.2354C>A (n.2354C>A)
c.2018C>A (n.2018C>A)
c.8436C>A (p.Ser2812Arg)
c.1701C>A (p.Ser567Arg)
n.1957C>A
c.8616C>A (p.Ser2872Arg)
c.8550C>A (p.Ser2850Arg)
c.8613C>A (p.Ser2871Arg)
c.8610C>A (p.Ser2870Arg)
c.8556C>A (p.Ser2852Arg)
c.8526C>A (p.Ser2842Arg)
c.8481C>A (p.Ser2827Arg)
c.8076C>A (p.Ser2692Arg)
c.7434C>A (p.Ser2478Arg)
c.4944C>A (p.Ser1648Arg)
10g.71807628C=CA1918886565CDH23c.8421C= (p.Ser2807=)
c.2354C= (n.2354C=)
c.2018C= (n.2018C=)
c.8436C= (p.Ser2812=)
c.1701C= (p.Ser567=)
n.1957C=
c.8616C= (p.Ser2872=)
c.8550C= (p.Ser2850=)
c.8613C= (p.Ser2871=)
c.8610C= (p.Ser2870=)
c.8556C= (p.Ser2852=)
c.8526C= (p.Ser2842=)
c.8481C= (p.Ser2827=)
c.8076C= (p.Ser2692=)
c.7434C= (p.Ser2478=)
c.4944C= (p.Ser1648=)
10g.71807628C>GCA377131510CDH23c.8421C>G (p.Ser2807Arg)
c.2354C>G (n.2354C>G)
c.2018C>G (n.2018C>G)
c.8436C>G (p.Ser2812Arg)
c.1701C>G (p.Ser567Arg)
n.1957C>G
c.8616C>G (p.Ser2872Arg)
c.8550C>G (p.Ser2850Arg)
c.8613C>G (p.Ser2871Arg)
c.8610C>G (p.Ser2870Arg)
c.8556C>G (p.Ser2852Arg)
c.8526C>G (p.Ser2842Arg)
c.8481C>G (p.Ser2827Arg)
c.8076C>G (p.Ser2692Arg)
c.7434C>G (p.Ser2478Arg)
c.4944C>G (p.Ser1648Arg)
10g.71807628C>TCA5546648CDH23c.8421C>T (p.Ser2807=)
c.2354C>T (n.2354C>T)
c.2018C>T (n.2018C>T)
c.8436C>T (p.Ser2812=)
c.1701C>T (p.Ser567=)
n.1957C>T
c.8616C>T (p.Ser2872=)
c.8550C>T (p.Ser2850=)
c.8613C>T (p.Ser2871=)
c.8610C>T (p.Ser2870=)
c.8556C>T (p.Ser2852=)
c.8526C>T (p.Ser2842=)
c.8481C>T (p.Ser2827=)
c.8076C>T (p.Ser2692=)
c.7434C>T (p.Ser2478=)
c.4944C>T (p.Ser1648=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71807629A>CCA377131511CDH23c.8422A>C (p.Asn2808His)
c.2355A>C (n.2355A>C)
c.2019A>C (n.2019A>C)
c.8437A>C (p.Asn2813His)
c.1702A>C (p.Asn568His)
n.1958A>C
c.8617A>C (p.Asn2873His)
c.8551A>C (p.Asn2851His)
c.8614A>C (p.Asn2872His)
c.8611A>C (p.Asn2871His)
c.8557A>C (p.Asn2853His)
c.8527A>C (p.Asn2843His)
c.8482A>C (p.Asn2828His)
c.8077A>C (p.Asn2693His)
c.7435A>C (p.Asn2479His)
c.4945A>C (p.Asn1649His)
10g.71807629A>GCA377131512CDH23c.8422A>G (p.Asn2808Asp)
c.2355A>G (n.2355A>G)
c.2019A>G (n.2019A>G)
c.8437A>G (p.Asn2813Asp)
c.1702A>G (p.Asn568Asp)
n.1958A>G
c.8617A>G (p.Asn2873Asp)
c.8551A>G (p.Asn2851Asp)
c.8614A>G (p.Asn2872Asp)
c.8611A>G (p.Asn2871Asp)
c.8557A>G (p.Asn2853Asp)
c.8527A>G (p.Asn2843Asp)
c.8482A>G (p.Asn2828Asp)
c.8077A>G (p.Asn2693Asp)
c.7435A>G (p.Asn2479Asp)
c.4945A>G (p.Asn1649Asp)
10g.71807629A>TCA377131513CDH23c.8422A>T (p.Asn2808Tyr)
c.2355A>T (n.2355A>T)
c.2019A>T (n.2019A>T)
c.8437A>T (p.Asn2813Tyr)
c.1702A>T (p.Asn568Tyr)
n.1958A>T
c.8617A>T (p.Asn2873Tyr)
c.8551A>T (p.Asn2851Tyr)
c.8614A>T (p.Asn2872Tyr)
c.8611A>T (p.Asn2871Tyr)
c.8557A>T (p.Asn2853Tyr)
c.8527A>T (p.Asn2843Tyr)
c.8482A>T (p.Asn2828Tyr)
c.8077A>T (p.Asn2693Tyr)
c.7435A>T (p.Asn2479Tyr)
c.4945A>T (p.Asn1649Tyr)
10g.71807630A>CCA377131514CDH23c.8423A>C (p.Asn2808Thr)
c.2356A>C (n.2356A>C)
c.2020A>C (n.2020A>C)
c.8438A>C (p.Asn2813Thr)
c.1703A>C (p.Asn568Thr)
n.1959A>C
c.8618A>C (p.Asn2873Thr)
c.8552A>C (p.Asn2851Thr)
c.8615A>C (p.Asn2872Thr)
c.8612A>C (p.Asn2871Thr)
c.8558A>C (p.Asn2853Thr)
c.8528A>C (p.Asn2843Thr)
c.8483A>C (p.Asn2828Thr)
c.8078A>C (p.Asn2693Thr)
c.7436A>C (p.Asn2479Thr)
c.4946A>C (p.Asn1649Thr)
 dbSNP
10g.71807630A>GCA377131515CDH23c.8423A>G (p.Asn2808Ser)
c.2356A>G (n.2356A>G)
c.2020A>G (n.2020A>G)
c.8438A>G (p.Asn2813Ser)
c.1703A>G (p.Asn568Ser)
n.1959A>G
c.8618A>G (p.Asn2873Ser)
c.8552A>G (p.Asn2851Ser)
c.8615A>G (p.Asn2872Ser)
c.8612A>G (p.Asn2871Ser)
c.8558A>G (p.Asn2853Ser)
c.8528A>G (p.Asn2843Ser)
c.8483A>G (p.Asn2828Ser)
c.8078A>G (p.Asn2693Ser)
c.7436A>G (p.Asn2479Ser)
c.4946A>G (p.Asn1649Ser)
10g.71807630A>TCA377131516CDH23c.8423A>T (p.Asn2808Ile)
c.2356A>T (n.2356A>T)
c.2020A>T (n.2020A>T)
c.8438A>T (p.Asn2813Ile)
c.1703A>T (p.Asn568Ile)
n.1959A>T
c.8618A>T (p.Asn2873Ile)
c.8552A>T (p.Asn2851Ile)
c.8615A>T (p.Asn2872Ile)
c.8612A>T (p.Asn2871Ile)
c.8558A>T (p.Asn2853Ile)
c.8528A>T (p.Asn2843Ile)
c.8483A>T (p.Asn2828Ile)
c.8078A>T (p.Asn2693Ile)
c.7436A>T (p.Asn2479Ile)
c.4946A>T (p.Asn1649Ile)
10g.71807631T>ACA377131518CDH23c.8424T>A (p.Asn2808Lys)
c.2357T>A (n.2357T>A)
c.2021T>A (n.2021T>A)
c.8439T>A (p.Asn2813Lys)
c.1704T>A (p.Asn568Lys)
n.1960T>A
c.8619T>A (p.Asn2873Lys)
c.8553T>A (p.Asn2851Lys)
c.8616T>A (p.Asn2872Lys)
c.8613T>A (p.Asn2871Lys)
c.8559T>A (p.Asn2853Lys)
c.8529T>A (p.Asn2843Lys)
c.8484T>A (p.Asn2828Lys)
c.8079T>A (p.Asn2693Lys)
c.7437T>A (p.Asn2479Lys)
c.4947T>A (p.Asn1649Lys)
10g.71807631T>CCA470282478CDH23c.8424T>C (p.Asn2808=)
c.2357T>C (n.2357T>C)
c.2021T>C (n.2021T>C)
c.8439T>C (p.Asn2813=)
c.1704T>C (p.Asn568=)
n.1960T>C
c.8619T>C (p.Asn2873=)
c.8553T>C (p.Asn2851=)
c.8616T>C (p.Asn2872=)
c.8613T>C (p.Asn2871=)
c.8559T>C (p.Asn2853=)
c.8529T>C (p.Asn2843=)
c.8484T>C (p.Asn2828=)
c.8079T>C (p.Asn2693=)
c.7437T>C (p.Asn2479=)
c.4947T>C (p.Asn1649=)
10g.71807631T>GCA377131517CDH23c.8424T>G (p.Asn2808Lys)
c.2357T>G (n.2357T>G)
c.2021T>G (n.2021T>G)
c.8439T>G (p.Asn2813Lys)
c.1704T>G (p.Asn568Lys)
n.1960T>G
c.8619T>G (p.Asn2873Lys)
c.8553T>G (p.Asn2851Lys)
c.8616T>G (p.Asn2872Lys)
c.8613T>G (p.Asn2871Lys)
c.8559T>G (p.Asn2853Lys)
c.8529T>G (p.Asn2843Lys)
c.8484T>G (p.Asn2828Lys)
c.8079T>G (p.Asn2693Lys)
c.7437T>G (p.Asn2479Lys)
c.4947T>G (p.Asn1649Lys)
 dbSNP
10g.71807632C>ACA377131519CDH23c.8425C>A (p.Arg2809Ser)
c.2358C>A (n.2358C>A)
c.2022C>A (n.2022C>A)
c.8440C>A (p.Arg2814Ser)
c.1705C>A (p.Arg569Ser)
n.1961C>A
c.8620C>A (p.Arg2874Ser)
c.8554C>A (p.Arg2852Ser)
c.8617C>A (p.Arg2873Ser)
c.8614C>A (p.Arg2872Ser)
c.8560C>A (p.Arg2854Ser)
c.8530C>A (p.Arg2844Ser)
c.8485C>A (p.Arg2829Ser)
c.8080C>A (p.Arg2694Ser)
c.7438C>A (p.Arg2480Ser)
c.4948C>A (p.Arg1650Ser)
 dbSNP gnomAD v4
10g.71807632C=CA1918886568CDH23c.8425C= (p.Arg2809=)
c.2358C= (n.2358C=)
c.2022C= (n.2022C=)
c.8440C= (p.Arg2814=)
c.1705C= (p.Arg569=)
n.1961C=
c.8620C= (p.Arg2874=)
c.8554C= (p.Arg2852=)
c.8617C= (p.Arg2873=)
c.8614C= (p.Arg2872=)
c.8560C= (p.Arg2854=)
c.8530C= (p.Arg2844=)
c.8485C= (p.Arg2829=)
c.8080C= (p.Arg2694=)
c.7438C= (p.Arg2480=)
c.4948C= (p.Arg1650=)
10g.71807632C>GCA377131520CDH23c.8425C>G (p.Arg2809Gly)
c.2358C>G (n.2358C>G)
c.2022C>G (n.2022C>G)
c.8440C>G (p.Arg2814Gly)
c.1705C>G (p.Arg569Gly)
n.1961C>G
c.8620C>G (p.Arg2874Gly)
c.8554C>G (p.Arg2852Gly)
c.8617C>G (p.Arg2873Gly)
c.8614C>G (p.Arg2872Gly)
c.8560C>G (p.Arg2854Gly)
c.8530C>G (p.Arg2844Gly)
c.8485C>G (p.Arg2829Gly)
c.8080C>G (p.Arg2694Gly)
c.7438C>G (p.Arg2480Gly)
c.4948C>G (p.Arg1650Gly)
10g.71807632C>TCA5546649CDH23c.8425C>T (p.Arg2809Cys)
c.2358C>T (n.2358C>T)
c.2022C>T (n.2022C>T)
c.8440C>T (p.Arg2814Cys)
c.1705C>T (p.Arg569Cys)
n.1961C>T
c.8620C>T (p.Arg2874Cys)
c.8554C>T (p.Arg2852Cys)
c.8617C>T (p.Arg2873Cys)
c.8614C>T (p.Arg2872Cys)
c.8560C>T (p.Arg2854Cys)
c.8530C>T (p.Arg2844Cys)
c.8485C>T (p.Arg2829Cys)
c.8080C>T (p.Arg2694Cys)
c.7438C>T (p.Arg2480Cys)
c.4948C>T (p.Arg1650Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71807633G>ACA5546650CDH23c.8426G>A (p.Arg2809His)
c.2359G>A (n.2359G>A)
c.2023G>A (n.2023G>A)
c.8441G>A (p.Arg2814His)
c.1706G>A (p.Arg569His)
n.1962G>A
c.8621G>A (p.Arg2874His)
c.8555G>A (p.Arg2852His)
c.8618G>A (p.Arg2873His)
c.8615G>A (p.Arg2872His)
c.8561G>A (p.Arg2854His)
c.8531G>A (p.Arg2844His)
c.8486G>A (p.Arg2829His)
c.8081G>A (p.Arg2694His)
c.7439G>A (p.Arg2480His)
c.4949G>A (p.Arg1650His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71807633G>CCA377131521CDH23c.8426G>C (p.Arg2809Pro)
c.2359G>C (n.2359G>C)
c.2023G>C (n.2023G>C)
c.8441G>C (p.Arg2814Pro)
c.1706G>C (p.Arg569Pro)
n.1962G>C
c.8621G>C (p.Arg2874Pro)
c.8555G>C (p.Arg2852Pro)
c.8618G>C (p.Arg2873Pro)
c.8615G>C (p.Arg2872Pro)
c.8561G>C (p.Arg2854Pro)
c.8531G>C (p.Arg2844Pro)
c.8486G>C (p.Arg2829Pro)
c.8081G>C (p.Arg2694Pro)
c.7439G>C (p.Arg2480Pro)
c.4949G>C (p.Arg1650Pro)
 dbSNP
10g.71807633G=CA1918886570CDH23c.8426G= (p.Arg2809=)
c.2359G= (n.2359G=)
c.2023G= (n.2023G=)
c.8441G= (p.Arg2814=)
c.1706G= (p.Arg569=)
n.1962G=
c.8621G= (p.Arg2874=)
c.8555G= (p.Arg2852=)
c.8618G= (p.Arg2873=)
c.8615G= (p.Arg2872=)
c.8561G= (p.Arg2854=)
c.8531G= (p.Arg2844=)
c.8486G= (p.Arg2829=)
c.8081G= (p.Arg2694=)
c.7439G= (p.Arg2480=)
c.4949G= (p.Arg1650=)
10g.71807633G>TCA377131522CDH23c.8426G>T (p.Arg2809Leu)
c.2359G>T (n.2359G>T)
c.2023G>T (n.2023G>T)
c.8441G>T (p.Arg2814Leu)
c.1706G>T (p.Arg569Leu)
n.1962G>T
c.8621G>T (p.Arg2874Leu)
c.8555G>T (p.Arg2852Leu)
c.8618G>T (p.Arg2873Leu)
c.8615G>T (p.Arg2872Leu)
c.8561G>T (p.Arg2854Leu)
c.8531G>T (p.Arg2844Leu)
c.8486G>T (p.Arg2829Leu)
c.8081G>T (p.Arg2694Leu)
c.7439G>T (p.Arg2480Leu)
c.4949G>T (p.Arg1650Leu)
10g.71807634C>ACA470282481CDH23c.8427C>A (p.Arg2809=)
c.2360C>A (n.2360C>A)
c.2024C>A (n.2024C>A)
c.8442C>A (p.Arg2814=)
c.1707C>A (p.Arg569=)
n.1963C>A
c.8622C>A (p.Arg2874=)
c.8556C>A (p.Arg2852=)
c.8619C>A (p.Arg2873=)
c.8616C>A (p.Arg2872=)
c.8562C>A (p.Arg2854=)
c.8532C>A (p.Arg2844=)
c.8487C>A (p.Arg2829=)
c.8082C>A (p.Arg2694=)
c.7440C>A (p.Arg2480=)
c.4950C>A (p.Arg1650=)
10g.71807634C=CA1918886572CDH23c.8427C= (p.Arg2809=)
c.2360C= (n.2360C=)
c.2024C= (n.2024C=)
c.8442C= (p.Arg2814=)
c.1707C= (p.Arg569=)
n.1963C=
c.8622C= (p.Arg2874=)
c.8556C= (p.Arg2852=)
c.8619C= (p.Arg2873=)
c.8616C= (p.Arg2872=)
c.8562C= (p.Arg2854=)
c.8532C= (p.Arg2844=)
c.8487C= (p.Arg2829=)
c.8082C= (p.Arg2694=)
c.7440C= (p.Arg2480=)
c.4950C= (p.Arg1650=)
10g.71807634C>GCA470282479CDH23c.8427C>G (p.Arg2809=)
c.2360C>G (n.2360C>G)
c.2024C>G (n.2024C>G)
c.8442C>G (p.Arg2814=)
c.1707C>G (p.Arg569=)
n.1963C>G
c.8622C>G (p.Arg2874=)
c.8556C>G (p.Arg2852=)
c.8619C>G (p.Arg2873=)
c.8616C>G (p.Arg2872=)
c.8562C>G (p.Arg2854=)
c.8532C>G (p.Arg2844=)
c.8487C>G (p.Arg2829=)
c.8082C>G (p.Arg2694=)
c.7440C>G (p.Arg2480=)
c.4950C>G (p.Arg1650=)
10g.71807634C>TCA470282480CDH23c.8427C>T (p.Arg2809=)
c.2360C>T (n.2360C>T)
c.2024C>T (n.2024C>T)
c.8442C>T (p.Arg2814=)
c.1707C>T (p.Arg569=)
n.1963C>T
c.8622C>T (p.Arg2874=)
c.8556C>T (p.Arg2852=)
c.8619C>T (p.Arg2873=)
c.8616C>T (p.Arg2872=)
c.8562C>T (p.Arg2854=)
c.8532C>T (p.Arg2844=)
c.8487C>T (p.Arg2829=)
c.8082C>T (p.Arg2694=)
c.7440C>T (p.Arg2480=)
c.4950C>T (p.Arg1650=)
 dbSNP gnomAD v2 gnomAD v4
10g.71807635A>CCA377131523CDH23c.8428A>C (p.Ser2810Arg)
c.2361A>C (n.2361A>C)
c.2025A>C (n.2025A>C)
c.8443A>C (p.Ser2815Arg)
c.1708A>C (p.Ser570Arg)
n.1964A>C
c.8623A>C (p.Ser2875Arg)
c.8557A>C (p.Ser2853Arg)
c.8620A>C (p.Ser2874Arg)
c.8617A>C (p.Ser2873Arg)
c.8563A>C (p.Ser2855Arg)
c.8533A>C (p.Ser2845Arg)
c.8488A>C (p.Ser2830Arg)
c.8083A>C (p.Ser2695Arg)
c.7441A>C (p.Ser2481Arg)
c.4951A>C (p.Ser1651Arg)
10g.71807635A>GCA377131524CDH23c.8428A>G (p.Ser2810Gly)
c.2361A>G (n.2361A>G)
c.2025A>G (n.2025A>G)
c.8443A>G (p.Ser2815Gly)
c.1708A>G (p.Ser570Gly)
n.1964A>G
c.8623A>G (p.Ser2875Gly)
c.8557A>G (p.Ser2853Gly)
c.8620A>G (p.Ser2874Gly)
c.8617A>G (p.Ser2873Gly)
c.8563A>G (p.Ser2855Gly)
c.8533A>G (p.Ser2845Gly)
c.8488A>G (p.Ser2830Gly)
c.8083A>G (p.Ser2695Gly)
c.7441A>G (p.Ser2481Gly)
c.4951A>G (p.Ser1651Gly)
10g.71807635A>TCA377131525CDH23c.8428A>T (p.Ser2810Cys)
c.2361A>T (n.2361A>T)
c.2025A>T (n.2025A>T)
c.8443A>T (p.Ser2815Cys)
c.1708A>T (p.Ser570Cys)
n.1964A>T
c.8623A>T (p.Ser2875Cys)
c.8557A>T (p.Ser2853Cys)
c.8620A>T (p.Ser2874Cys)
c.8617A>T (p.Ser2873Cys)
c.8563A>T (p.Ser2855Cys)
c.8533A>T (p.Ser2845Cys)
c.8488A>T (p.Ser2830Cys)
c.8083A>T (p.Ser2695Cys)
c.7441A>T (p.Ser2481Cys)
c.4951A>T (p.Ser1651Cys)
10g.71807636G>ACA377131526CDH23c.8429G>A (p.Ser2810Asn)
c.2362G>A (n.2362G>A)
c.2026G>A (n.2026G>A)
c.8444G>A (p.Ser2815Asn)
c.1709G>A (p.Ser570Asn)
n.1965G>A
c.8624G>A (p.Ser2875Asn)
c.8558G>A (p.Ser2853Asn)
c.8621G>A (p.Ser2874Asn)
c.8618G>A (p.Ser2873Asn)
c.8564G>A (p.Ser2855Asn)
c.8534G>A (p.Ser2845Asn)
c.8489G>A (p.Ser2830Asn)
c.8084G>A (p.Ser2695Asn)
c.7442G>A (p.Ser2481Asn)
c.4952G>A (p.Ser1651Asn)
 ClinVar dbSNP COSMIC
10g.71807636G>CCA377131527CDH23c.8429G>C (p.Ser2810Thr)
c.2362G>C (n.2362G>C)
c.2026G>C (n.2026G>C)
c.8444G>C (p.Ser2815Thr)
c.1709G>C (p.Ser570Thr)
n.1965G>C
c.8624G>C (p.Ser2875Thr)
c.8558G>C (p.Ser2853Thr)
c.8621G>C (p.Ser2874Thr)
c.8618G>C (p.Ser2873Thr)
c.8564G>C (p.Ser2855Thr)
c.8534G>C (p.Ser2845Thr)
c.8489G>C (p.Ser2830Thr)
c.8084G>C (p.Ser2695Thr)
c.7442G>C (p.Ser2481Thr)
c.4952G>C (p.Ser1651Thr)
10g.71807636G>TCA377131528CDH23c.8429G>T (p.Ser2810Ile)
c.2362G>T (n.2362G>T)
c.2026G>T (n.2026G>T)
c.8444G>T (p.Ser2815Ile)
c.1709G>T (p.Ser570Ile)
n.1965G>T
c.8624G>T (p.Ser2875Ile)
c.8558G>T (p.Ser2853Ile)
c.8621G>T (p.Ser2874Ile)
c.8618G>T (p.Ser2873Ile)
c.8564G>T (p.Ser2855Ile)
c.8534G>T (p.Ser2845Ile)
c.8489G>T (p.Ser2830Ile)
c.8084G>T (p.Ser2695Ile)
c.7442G>T (p.Ser2481Ile)
c.4952G>T (p.Ser1651Ile)
10g.71807637C>ACA377131529CDH23c.8430C>A (p.Ser2810Arg)
c.2363C>A (n.2363C>A)
c.2027C>A (n.2027C>A)
c.8445C>A (p.Ser2815Arg)
c.1710C>A (p.Ser570Arg)
n.1966C>A
c.8625C>A (p.Ser2875Arg)
c.8559C>A (p.Ser2853Arg)
c.8622C>A (p.Ser2874Arg)
c.8619C>A (p.Ser2873Arg)
c.8565C>A (p.Ser2855Arg)
c.8535C>A (p.Ser2845Arg)
c.8490C>A (p.Ser2830Arg)
c.8085C>A (p.Ser2695Arg)
c.7443C>A (p.Ser2481Arg)
c.4953C>A (p.Ser1651Arg)
10g.71807637C>GCA377131530CDH23c.8430C>G (p.Ser2810Arg)
c.2363C>G (n.2363C>G)
c.2027C>G (n.2027C>G)
c.8445C>G (p.Ser2815Arg)
c.1710C>G (p.Ser570Arg)
n.1966C>G
c.8625C>G (p.Ser2875Arg)
c.8559C>G (p.Ser2853Arg)
c.8622C>G (p.Ser2874Arg)
c.8619C>G (p.Ser2873Arg)
c.8565C>G (p.Ser2855Arg)
c.8535C>G (p.Ser2845Arg)
c.8490C>G (p.Ser2830Arg)
c.8085C>G (p.Ser2695Arg)
c.7443C>G (p.Ser2481Arg)
c.4953C>G (p.Ser1651Arg)
10g.71807637C>TCA470282483CDH23c.8430C>T (p.Ser2810=)
c.2363C>T (n.2363C>T)
c.2027C>T (n.2027C>T)
c.8445C>T (p.Ser2815=)
c.1710C>T (p.Ser570=)
n.1966C>T
c.8625C>T (p.Ser2875=)
c.8559C>T (p.Ser2853=)
c.8622C>T (p.Ser2874=)
c.8619C>T (p.Ser2873=)
c.8565C>T (p.Ser2855=)
c.8535C>T (p.Ser2845=)
c.8490C>T (p.Ser2830=)
c.8085C>T (p.Ser2695=)
c.7443C>T (p.Ser2481=)
c.4953C>T (p.Ser1651=)
 dbSNP
10g.71807638T>ACA377131533CDH23c.8431T>A (p.Trp2811Arg)
c.2364T>A (n.2364T>A)
c.2028T>A (n.2028T>A)
c.8446T>A (p.Trp2816Arg)
c.1711T>A (p.Trp571Arg)
n.1967T>A
c.8626T>A (p.Trp2876Arg)
c.8560T>A (p.Trp2854Arg)
c.8623T>A (p.Trp2875Arg)
c.8620T>A (p.Trp2874Arg)
c.8566T>A (p.Trp2856Arg)
c.8536T>A (p.Trp2846Arg)
c.8491T>A (p.Trp2831Arg)
c.8086T>A (p.Trp2696Arg)
c.7444T>A (p.Trp2482Arg)
c.4954T>A (p.Trp1652Arg)
 dbSNP
10g.71807638T>CCA377131532CDH23c.8431T>C (p.Trp2811Arg)
c.2364T>C (n.2364T>C)
c.2028T>C (n.2028T>C)
c.8446T>C (p.Trp2816Arg)
c.1711T>C (p.Trp571Arg)
n.1967T>C
c.8626T>C (p.Trp2876Arg)
c.8560T>C (p.Trp2854Arg)
c.8623T>C (p.Trp2875Arg)
c.8620T>C (p.Trp2874Arg)
c.8566T>C (p.Trp2856Arg)
c.8536T>C (p.Trp2846Arg)
c.8491T>C (p.Trp2831Arg)
c.8086T>C (p.Trp2696Arg)
c.7444T>C (p.Trp2482Arg)
c.4954T>C (p.Trp1652Arg)
 gnomAD v4
10g.71807638T>GCA377131531CDH23c.8431T>G (p.Trp2811Gly)
c.2364T>G (n.2364T>G)
c.2028T>G (n.2028T>G)
c.8446T>G (p.Trp2816Gly)
c.1711T>G (p.Trp571Gly)
n.1967T>G
c.8626T>G (p.Trp2876Gly)
c.8560T>G (p.Trp2854Gly)
c.8623T>G (p.Trp2875Gly)
c.8620T>G (p.Trp2874Gly)
c.8566T>G (p.Trp2856Gly)
c.8536T>G (p.Trp2846Gly)
c.8491T>G (p.Trp2831Gly)
c.8086T>G (p.Trp2696Gly)
c.7444T>G (p.Trp2482Gly)
c.4954T>G (p.Trp1652Gly)
10g.71807638T=CA1918886574CDH23c.8431T= (p.Trp2811=)
c.2364T= (n.2364T=)
c.2028T= (n.2028T=)
c.8446T= (p.Trp2816=)
c.1711T= (p.Trp571=)
n.1967T=
c.8626T= (p.Trp2876=)
c.8560T= (p.Trp2854=)
c.8623T= (p.Trp2875=)
c.8620T= (p.Trp2874=)
c.8566T= (p.Trp2856=)
c.8536T= (p.Trp2846=)
c.8491T= (p.Trp2831=)
c.8086T= (p.Trp2696=)
c.7444T= (p.Trp2482=)
c.4954T= (p.Trp1652=)
10g.71807639G>ACA377131534CDH23c.8432G>A (p.Trp2811Ter)
c.2365G>A (n.2365G>A)
c.2029G>A (n.2029G>A)
c.8447G>A (p.Trp2816Ter)
c.1712G>A (p.Trp571Ter)
n.1968G>A
c.8627G>A (p.Trp2876Ter)
c.8561G>A (p.Trp2854Ter)
c.8624G>A (p.Trp2875Ter)
c.8621G>A (p.Trp2874Ter)
c.8567G>A (p.Trp2856Ter)
c.8537G>A (p.Trp2846Ter)
c.8492G>A (p.Trp2831Ter)
c.8087G>A (p.Trp2696Ter)
c.7445G>A (p.Trp2482Ter)
c.4955G>A (p.Trp1652Ter)
 ClinVar dbSNP gnomAD v4
10g.71807639G>CCA377131535CDH23c.8432G>C (p.Trp2811Ser)
c.2365G>C (n.2365G>C)
c.2029G>C (n.2029G>C)
c.8447G>C (p.Trp2816Ser)
c.1712G>C (p.Trp571Ser)
n.1968G>C
c.8627G>C (p.Trp2876Ser)
c.8561G>C (p.Trp2854Ser)
c.8624G>C (p.Trp2875Ser)
c.8621G>C (p.Trp2874Ser)
c.8567G>C (p.Trp2856Ser)
c.8537G>C (p.Trp2846Ser)
c.8492G>C (p.Trp2831Ser)
c.8087G>C (p.Trp2696Ser)
c.7445G>C (p.Trp2482Ser)
c.4955G>C (p.Trp1652Ser)
10g.71807639G=CA1918886576CDH23c.8432G= (p.Trp2811=)
c.2365G= (n.2365G=)
c.2029G= (n.2029G=)
c.8447G= (p.Trp2816=)
c.1712G= (p.Trp571=)
n.1968G=
c.8627G= (p.Trp2876=)
c.8561G= (p.Trp2854=)
c.8624G= (p.Trp2875=)
c.8621G= (p.Trp2874=)
c.8567G= (p.Trp2856=)
c.8537G= (p.Trp2846=)
c.8492G= (p.Trp2831=)
c.8087G= (p.Trp2696=)
c.7445G= (p.Trp2482=)
c.4955G= (p.Trp1652=)
10g.71807639G>TCA377131536CDH23c.8432G>T (p.Trp2811Leu)
c.2365G>T (n.2365G>T)
c.2029G>T (n.2029G>T)
c.8447G>T (p.Trp2816Leu)
c.1712G>T (p.Trp571Leu)
n.1968G>T
c.8627G>T (p.Trp2876Leu)
c.8561G>T (p.Trp2854Leu)
c.8624G>T (p.Trp2875Leu)
c.8621G>T (p.Trp2874Leu)
c.8567G>T (p.Trp2856Leu)
c.8537G>T (p.Trp2846Leu)
c.8492G>T (p.Trp2831Leu)
c.8087G>T (p.Trp2696Leu)
c.7445G>T (p.Trp2482Leu)
c.4955G>T (p.Trp1652Leu)
 gnomAD v4
10g.71807640G>ACA5546651CDH23c.8433G>A (p.Trp2811Ter)
c.2366G>A (n.2366G>A)
c.2030G>A (n.2030G>A)
c.8448G>A (p.Trp2816Ter)
c.1713G>A (p.Trp571Ter)
n.1969G>A
c.8628G>A (p.Trp2876Ter)
c.8562G>A (p.Trp2854Ter)
c.8625G>A (p.Trp2875Ter)
c.8622G>A (p.Trp2874Ter)
c.8568G>A (p.Trp2856Ter)
c.8538G>A (p.Trp2846Ter)
c.8493G>A (p.Trp2831Ter)
c.8088G>A (p.Trp2696Ter)
c.7446G>A (p.Trp2482Ter)
c.4956G>A (p.Trp1652Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71807640G>CCA377131537CDH23c.8433G>C (p.Trp2811Cys)
c.2366G>C (n.2366G>C)
c.2030G>C (n.2030G>C)
c.8448G>C (p.Trp2816Cys)
c.1713G>C (p.Trp571Cys)
n.1969G>C
c.8628G>C (p.Trp2876Cys)
c.8562G>C (p.Trp2854Cys)
c.8625G>C (p.Trp2875Cys)
c.8622G>C (p.Trp2874Cys)
c.8568G>C (p.Trp2856Cys)
c.8538G>C (p.Trp2846Cys)
c.8493G>C (p.Trp2831Cys)
c.8088G>C (p.Trp2696Cys)
c.7446G>C (p.Trp2482Cys)
c.4956G>C (p.Trp1652Cys)
 dbSNP
10g.71807640G=CA1918886578CDH23c.8433G= (p.Trp2811=)
c.2366G= (n.2366G=)
c.2030G= (n.2030G=)
c.8448G= (p.Trp2816=)
c.1713G= (p.Trp571=)
n.1969G=
c.8628G= (p.Trp2876=)
c.8562G= (p.Trp2854=)
c.8625G= (p.Trp2875=)
c.8622G= (p.Trp2874=)
c.8568G= (p.Trp2856=)
c.8538G= (p.Trp2846=)
c.8493G= (p.Trp2831=)
c.8088G= (p.Trp2696=)
c.7446G= (p.Trp2482=)
c.4956G= (p.Trp1652=)
10g.71807640G>TCA377131538CDH23c.8433G>T (p.Trp2811Cys)
c.2366G>T (n.2366G>T)
c.2030G>T (n.2030G>T)
c.8448G>T (p.Trp2816Cys)
c.1713G>T (p.Trp571Cys)
n.1969G>T
c.8628G>T (p.Trp2876Cys)
c.8562G>T (p.Trp2854Cys)
c.8625G>T (p.Trp2875Cys)
c.8622G>T (p.Trp2874Cys)
c.8568G>T (p.Trp2856Cys)
c.8538G>T (p.Trp2846Cys)
c.8493G>T (p.Trp2831Cys)
c.8088G>T (p.Trp2696Cys)
c.7446G>T (p.Trp2482Cys)
c.4956G>T (p.Trp1652Cys)
10g.71807641A>CCA377131539CDH23c.8434A>C (p.Thr2812Pro)
c.2367A>C (n.2367A>C)
c.2031A>C (n.2031A>C)
c.8449A>C (p.Thr2817Pro)
c.1714A>C (p.Thr572Pro)
n.1970A>C
c.8629A>C (p.Thr2877Pro)
c.8563A>C (p.Thr2855Pro)
c.8626A>C (p.Thr2876Pro)
c.8623A>C (p.Thr2875Pro)
c.8569A>C (p.Thr2857Pro)
c.8539A>C (p.Thr2847Pro)
c.8494A>C (p.Thr2832Pro)
c.8089A>C (p.Thr2697Pro)
c.7447A>C (p.Thr2483Pro)
c.4957A>C (p.Thr1653Pro)
 dbSNP
10g.71807641A>GCA377131540CDH23c.8434A>G (p.Thr2812Ala)
c.2367A>G (n.2367A>G)
c.2031A>G (n.2031A>G)
c.8449A>G (p.Thr2817Ala)
c.1714A>G (p.Thr572Ala)
n.1970A>G
c.8629A>G (p.Thr2877Ala)
c.8563A>G (p.Thr2855Ala)
c.8626A>G (p.Thr2876Ala)
c.8623A>G (p.Thr2875Ala)
c.8569A>G (p.Thr2857Ala)
c.8539A>G (p.Thr2847Ala)
c.8494A>G (p.Thr2832Ala)
c.8089A>G (p.Thr2697Ala)
c.7447A>G (p.Thr2483Ala)
c.4957A>G (p.Thr1653Ala)
 dbSNP
10g.71807641A>TCA377131541CDH23c.8434A>T (p.Thr2812Ser)
c.2367A>T (n.2367A>T)
c.2031A>T (n.2031A>T)
c.8449A>T (p.Thr2817Ser)
c.1714A>T (p.Thr572Ser)
n.1970A>T
c.8629A>T (p.Thr2877Ser)
c.8563A>T (p.Thr2855Ser)
c.8626A>T (p.Thr2876Ser)
c.8623A>T (p.Thr2875Ser)
c.8569A>T (p.Thr2857Ser)
c.8539A>T (p.Thr2847Ser)
c.8494A>T (p.Thr2832Ser)
c.8089A>T (p.Thr2697Ser)
c.7447A>T (p.Thr2483Ser)
c.4957A>T (p.Thr1653Ser)
 dbSNP
10g.71807642C>ACA377131542CDH23c.8435C>A (p.Thr2812Lys)
c.2368C>A (n.2368C>A)
c.2032C>A (n.2032C>A)
c.8450C>A (p.Thr2817Lys)
c.1715C>A (p.Thr572Lys)
n.1971C>A
c.8630C>A (p.Thr2877Lys)
c.8564C>A (p.Thr2855Lys)
c.8627C>A (p.Thr2876Lys)
c.8624C>A (p.Thr2875Lys)
c.8570C>A (p.Thr2857Lys)
c.8540C>A (p.Thr2847Lys)
c.8495C>A (p.Thr2832Lys)
c.8090C>A (p.Thr2697Lys)
c.7448C>A (p.Thr2483Lys)
c.4958C>A (p.Thr1653Lys)
10g.71807642C>GCA377131543CDH23c.8435C>G (p.Thr2812Arg)
c.2368C>G (n.2368C>G)
c.2032C>G (n.2032C>G)
c.8450C>G (p.Thr2817Arg)
c.1715C>G (p.Thr572Arg)
n.1971C>G
c.8630C>G (p.Thr2877Arg)
c.8564C>G (p.Thr2855Arg)
c.8627C>G (p.Thr2876Arg)
c.8624C>G (p.Thr2875Arg)
c.8570C>G (p.Thr2857Arg)
c.8540C>G (p.Thr2847Arg)
c.8495C>G (p.Thr2832Arg)
c.8090C>G (p.Thr2697Arg)
c.7448C>G (p.Thr2483Arg)
c.4958C>G (p.Thr1653Arg)
10g.71807642C>TCA377131544CDH23c.8435C>T (p.Thr2812Ile)
c.2368C>T (n.2368C>T)
c.2032C>T (n.2032C>T)
c.8450C>T (p.Thr2817Ile)
c.1715C>T (p.Thr572Ile)
n.1971C>T
c.8630C>T (p.Thr2877Ile)
c.8564C>T (p.Thr2855Ile)
c.8627C>T (p.Thr2876Ile)
c.8624C>T (p.Thr2875Ile)
c.8570C>T (p.Thr2857Ile)
c.8540C>T (p.Thr2847Ile)
c.8495C>T (p.Thr2832Ile)
c.8090C>T (p.Thr2697Ile)
c.7448C>T (p.Thr2483Ile)
c.4958C>T (p.Thr1653Ile)
 dbSNP
10g.71807643A=CA1918886580CDH23c.8436A= (p.Thr2812=)
c.2369A= (n.2369A=)
c.2033A= (n.2033A=)
c.8451A= (p.Thr2817=)
c.1716A= (p.Thr572=)
n.1972A=
c.8631A= (p.Thr2877=)
c.8565A= (p.Thr2855=)
c.8628A= (p.Thr2876=)
c.8625A= (p.Thr2875=)
c.8571A= (p.Thr2857=)
c.8541A= (p.Thr2847=)
c.8496A= (p.Thr2832=)
c.8091A= (p.Thr2697=)
c.7449A= (p.Thr2483=)
c.4959A= (p.Thr1653=)
10g.71807643A>CCA470282487CDH23c.8436A>C (p.Thr2812=)
c.2369A>C (n.2369A>C)
c.2033A>C (n.2033A>C)
c.8451A>C (p.Thr2817=)
c.1716A>C (p.Thr572=)
n.1972A>C
c.8631A>C (p.Thr2877=)
c.8565A>C (p.Thr2855=)
c.8628A>C (p.Thr2876=)
c.8625A>C (p.Thr2875=)
c.8571A>C (p.Thr2857=)
c.8541A>C (p.Thr2847=)
c.8496A>C (p.Thr2832=)
c.8091A>C (p.Thr2697=)
c.7449A>C (p.Thr2483=)
c.4959A>C (p.Thr1653=)
 dbSNP
10g.71807643A>GCA470282488CDH23c.8436A>G (p.Thr2812=)
c.2369A>G (n.2369A>G)
c.2033A>G (n.2033A>G)
c.8451A>G (p.Thr2817=)
c.1716A>G (p.Thr572=)
n.1972A>G
c.8631A>G (p.Thr2877=)
c.8565A>G (p.Thr2855=)
c.8628A>G (p.Thr2876=)
c.8625A>G (p.Thr2875=)
c.8571A>G (p.Thr2857=)
c.8541A>G (p.Thr2847=)
c.8496A>G (p.Thr2832=)
c.8091A>G (p.Thr2697=)
c.7449A>G (p.Thr2483=)
c.4959A>G (p.Thr1653=)
 dbSNP gnomAD v2 gnomAD v4
10g.71807643A>TCA470282489CDH23c.8436A>T (p.Thr2812=)
c.2369A>T (n.2369A>T)
c.2033A>T (n.2033A>T)
c.8451A>T (p.Thr2817=)
c.1716A>T (p.Thr572=)
n.1972A>T
c.8631A>T (p.Thr2877=)
c.8565A>T (p.Thr2855=)
c.8628A>T (p.Thr2876=)
c.8625A>T (p.Thr2875=)
c.8571A>T (p.Thr2857=)
c.8541A>T (p.Thr2847=)
c.8496A>T (p.Thr2832=)
c.8091A>T (p.Thr2697=)
c.7449A>T (p.Thr2483=)
c.4959A>T (p.Thr1653=)
 dbSNP
10g.71807644C>ACA377131546CDH23c.8437C>A (p.Pro2813Thr)
c.2370C>A (n.2370C>A)
c.2034C>A (n.2034C>A)
c.8452C>A (p.Pro2818Thr)
c.1717C>A (p.Pro573Thr)
n.1973C>A
c.8632C>A (p.Pro2878Thr)
c.8566C>A (p.Pro2856Thr)
c.8629C>A (p.Pro2877Thr)
c.8626C>A (p.Pro2876Thr)
c.8572C>A (p.Pro2858Thr)
c.8542C>A (p.Pro2848Thr)
c.8497C>A (p.Pro2833Thr)
c.8092C>A (p.Pro2698Thr)
c.7450C>A (p.Pro2484Thr)
c.4960C>A (p.Pro1654Thr)
10g.71807644C=CA1918886582CDH23c.8437C= (p.Pro2813=)
c.2370C= (n.2370C=)
c.2034C= (n.2034C=)
c.8452C= (p.Pro2818=)
c.1717C= (p.Pro573=)
n.1973C=
c.8632C= (p.Pro2878=)
c.8566C= (p.Pro2856=)
c.8629C= (p.Pro2877=)
c.8626C= (p.Pro2876=)
c.8572C= (p.Pro2858=)
c.8542C= (p.Pro2848=)
c.8497C= (p.Pro2833=)
c.8092C= (p.Pro2698=)
c.7450C= (p.Pro2484=)
c.4960C= (p.Pro1654=)
10g.71807644C>GCA377131545CDH23c.8437C>G (p.Pro2813Ala)
c.2370C>G (n.2370C>G)
c.2034C>G (n.2034C>G)
c.8452C>G (p.Pro2818Ala)
c.1717C>G (p.Pro573Ala)
n.1973C>G
c.8632C>G (p.Pro2878Ala)
c.8566C>G (p.Pro2856Ala)
c.8629C>G (p.Pro2877Ala)
c.8626C>G (p.Pro2876Ala)
c.8572C>G (p.Pro2858Ala)
c.8542C>G (p.Pro2848Ala)
c.8497C>G (p.Pro2833Ala)
c.8092C>G (p.Pro2698Ala)
c.7450C>G (p.Pro2484Ala)
c.4960C>G (p.Pro1654Ala)
10g.71807644C>TCA5546652CDH23c.8437C>T (p.Pro2813Ser)
c.2370C>T (n.2370C>T)
c.2034C>T (n.2034C>T)
c.8452C>T (p.Pro2818Ser)
c.1717C>T (p.Pro573Ser)
n.1973C>T
c.8632C>T (p.Pro2878Ser)
c.8566C>T (p.Pro2856Ser)
c.8629C>T (p.Pro2877Ser)
c.8626C>T (p.Pro2876Ser)
c.8572C>T (p.Pro2858Ser)
c.8542C>T (p.Pro2848Ser)
c.8497C>T (p.Pro2833Ser)
c.8092C>T (p.Pro2698Ser)
c.7450C>T (p.Pro2484Ser)
c.4960C>T (p.Pro1654Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71807645C>ACA377131548CDH23c.8438C>A (p.Pro2813His)
c.2371C>A (n.2371C>A)
c.2035C>A (n.2035C>A)
c.8453C>A (p.Pro2818His)
c.1718C>A (p.Pro573His)
n.1974C>A
c.8633C>A (p.Pro2878His)
c.8567C>A (p.Pro2856His)
c.8630C>A (p.Pro2877His)
c.8627C>A (p.Pro2876His)
c.8573C>A (p.Pro2858His)
c.8543C>A (p.Pro2848His)
c.8498C>A (p.Pro2833His)
c.8093C>A (p.Pro2698His)
c.7451C>A (p.Pro2484His)
c.4961C>A (p.Pro1654His)
 dbSNP
10g.71807645C=CA1918886584CDH23c.8438C= (p.Pro2813=)
c.2371C= (n.2371C=)
c.2035C= (n.2035C=)
c.8453C= (p.Pro2818=)
c.1718C= (p.Pro573=)
n.1974C=
c.8633C= (p.Pro2878=)
c.8567C= (p.Pro2856=)
c.8630C= (p.Pro2877=)
c.8627C= (p.Pro2876=)
c.8573C= (p.Pro2858=)
c.8543C= (p.Pro2848=)
c.8498C= (p.Pro2833=)
c.8093C= (p.Pro2698=)
c.7451C= (p.Pro2484=)
c.4961C= (p.Pro1654=)
10g.71807645C>GCA5546653CDH23c.8438C>G (p.Pro2813Arg)
c.2371C>G (n.2371C>G)
c.2035C>G (n.2035C>G)
c.8453C>G (p.Pro2818Arg)
c.1718C>G (p.Pro573Arg)
n.1974C>G
c.8633C>G (p.Pro2878Arg)
c.8567C>G (p.Pro2856Arg)
c.8630C>G (p.Pro2877Arg)
c.8627C>G (p.Pro2876Arg)
c.8573C>G (p.Pro2858Arg)
c.8543C>G (p.Pro2848Arg)
c.8498C>G (p.Pro2833Arg)
c.8093C>G (p.Pro2698Arg)
c.7451C>G (p.Pro2484Arg)
c.4961C>G (p.Pro1654Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71807645C>TCA377131547CDH23c.8438C>T (p.Pro2813Leu)
c.2371C>T (n.2371C>T)
c.2035C>T (n.2035C>T)
c.8453C>T (p.Pro2818Leu)
c.1718C>T (p.Pro573Leu)
n.1974C>T
c.8633C>T (p.Pro2878Leu)
c.8567C>T (p.Pro2856Leu)
c.8630C>T (p.Pro2877Leu)
c.8627C>T (p.Pro2876Leu)
c.8573C>T (p.Pro2858Leu)
c.8543C>T (p.Pro2848Leu)
c.8498C>T (p.Pro2833Leu)
c.8093C>T (p.Pro2698Leu)
c.7451C>T (p.Pro2484Leu)
c.4961C>T (p.Pro1654Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71807646T>ACA470282490CDH23c.8439T>A (p.Pro2813=)
c.2372T>A (n.2372T>A)
c.2036T>A (n.2036T>A)
c.8454T>A (p.Pro2818=)
c.1719T>A (p.Pro573=)
n.1975T>A
c.8634T>A (p.Pro2878=)
c.8568T>A (p.Pro2856=)
c.8631T>A (p.Pro2877=)
c.8628T>A (p.Pro2876=)
c.8574T>A (p.Pro2858=)
c.8544T>A (p.Pro2848=)
c.8499T>A (p.Pro2833=)
c.8094T>A (p.Pro2698=)
c.7452T>A (p.Pro2484=)
c.4962T>A (p.Pro1654=)
10g.71807646T>CCA470282491CDH23c.8439T>C (p.Pro2813=)
c.2372T>C (n.2372T>C)
c.2036T>C (n.2036T>C)
c.8454T>C (p.Pro2818=)
c.1719T>C (p.Pro573=)
n.1975T>C
c.8634T>C (p.Pro2878=)
c.8568T>C (p.Pro2856=)
c.8631T>C (p.Pro2877=)
c.8628T>C (p.Pro2876=)
c.8574T>C (p.Pro2858=)
c.8544T>C (p.Pro2848=)
c.8499T>C (p.Pro2833=)
c.8094T>C (p.Pro2698=)
c.7452T>C (p.Pro2484=)
c.4962T>C (p.Pro1654=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71807646T>GCA470282492CDH23c.8439T>G (p.Pro2813=)
c.2372T>G (n.2372T>G)
c.2036T>G (n.2036T>G)
c.8454T>G (p.Pro2818=)
c.1719T>G (p.Pro573=)
n.1975T>G
c.8634T>G (p.Pro2878=)
c.8568T>G (p.Pro2856=)
c.8631T>G (p.Pro2877=)
c.8628T>G (p.Pro2876=)
c.8574T>G (p.Pro2858=)
c.8544T>G (p.Pro2848=)
c.8499T>G (p.Pro2833=)
c.8094T>G (p.Pro2698=)
c.7452T>G (p.Pro2484=)
c.4962T>G (p.Pro1654=)
10g.71807646T=CA1918886585CDH23c.8439T= (p.Pro2813=)
c.2372T= (n.2372T=)
c.2036T= (n.2036T=)
c.8454T= (p.Pro2818=)
c.1719T= (p.Pro573=)
n.1975T=
c.8634T= (p.Pro2878=)
c.8568T= (p.Pro2856=)
c.8631T= (p.Pro2877=)
c.8628T= (p.Pro2876=)
c.8574T= (p.Pro2858=)
c.8544T= (p.Pro2848=)
c.8499T= (p.Pro2833=)
c.8094T= (p.Pro2698=)
c.7452T= (p.Pro2484=)
c.4962T= (p.Pro1654=)
10g.71807647C>ACA377131549CDH23c.8440C>A (p.Pro2814Thr)
c.2373C>A (n.2373C>A)
c.2037C>A (n.2037C>A)
c.8455C>A (p.Pro2819Thr)
c.1720C>A (p.Pro574Thr)
n.1976C>A
c.8635C>A (p.Pro2879Thr)
c.8569C>A (p.Pro2857Thr)
c.8632C>A (p.Pro2878Thr)
c.8629C>A (p.Pro2877Thr)
c.8575C>A (p.Pro2859Thr)
c.8545C>A (p.Pro2849Thr)
c.8500C>A (p.Pro2834Thr)
c.8095C>A (p.Pro2699Thr)
c.7453C>A (p.Pro2485Thr)
c.4963C>A (p.Pro1655Thr)
10g.71807647C>GCA377131550CDH23c.8440C>G (p.Pro2814Ala)
c.2373C>G (n.2373C>G)
c.2037C>G (n.2037C>G)
c.8455C>G (p.Pro2819Ala)
c.1720C>G (p.Pro574Ala)
n.1976C>G
c.8635C>G (p.Pro2879Ala)
c.8569C>G (p.Pro2857Ala)
c.8632C>G (p.Pro2878Ala)
c.8629C>G (p.Pro2877Ala)
c.8575C>G (p.Pro2859Ala)
c.8545C>G (p.Pro2849Ala)
c.8500C>G (p.Pro2834Ala)
c.8095C>G (p.Pro2699Ala)
c.7453C>G (p.Pro2485Ala)
c.4963C>G (p.Pro1655Ala)
10g.71807647C>TCA377131551CDH23c.8440C>T (p.Pro2814Ser)
c.2373C>T (n.2373C>T)
c.2037C>T (n.2037C>T)
c.8455C>T (p.Pro2819Ser)
c.1720C>T (p.Pro574Ser)
n.1976C>T
c.8635C>T (p.Pro2879Ser)
c.8569C>T (p.Pro2857Ser)
c.8632C>T (p.Pro2878Ser)
c.8629C>T (p.Pro2877Ser)
c.8575C>T (p.Pro2859Ser)
c.8545C>T (p.Pro2849Ser)
c.8500C>T (p.Pro2834Ser)
c.8095C>T (p.Pro2699Ser)
c.7453C>T (p.Pro2485Ser)
c.4963C>T (p.Pro1655Ser)
10g.71807650delCA2609586443CDH23c.8443del (p.Arg2815ValfsTer22)
c.2376del (n.2376del)
c.2040del (n.2040del)
c.8458del (p.Arg2820ValfsTer22)
c.1723del (p.Arg575ValfsTer22)
n.1979del
c.8638del (p.Arg2880ValfsTer22)
c.8572del (p.Arg2858ValfsTer22)
c.8635del (p.Arg2879ValfsTer22)
c.8632del (p.Arg2878ValfsTer22)
c.8578del (p.Arg2860ValfsTer22)
c.8548del (p.Arg2850ValfsTer22)
c.8503del (p.Arg2835ValfsTer22)
c.8098del (p.Arg2700ValfsTer22)
c.7456del (p.Arg2486ValfsTer22)
c.4966del (p.Arg1656ValfsTer22)
 ClinVar gnomAD v4
10g.71807648C>ACA377131554CDH23c.8441C>A (p.Pro2814His)
c.2374C>A (n.2374C>A)
c.2038C>A (n.2038C>A)
c.8456C>A (p.Pro2819His)
c.1721C>A (p.Pro574His)
n.1977C>A
c.8636C>A (p.Pro2879His)
c.8570C>A (p.Pro2857His)
c.8633C>A (p.Pro2878His)
c.8630C>A (p.Pro2877His)
c.8576C>A (p.Pro2859His)
c.8546C>A (p.Pro2849His)
c.8501C>A (p.Pro2834His)
c.8096C>A (p.Pro2699His)
c.7454C>A (p.Pro2485His)
c.4964C>A (p.Pro1655His)
10g.71807648C>GCA377131553CDH23c.8441C>G (p.Pro2814Arg)
c.2374C>G (n.2374C>G)
c.2038C>G (n.2038C>G)
c.8456C>G (p.Pro2819Arg)
c.1721C>G (p.Pro574Arg)
n.1977C>G
c.8636C>G (p.Pro2879Arg)
c.8570C>G (p.Pro2857Arg)
c.8633C>G (p.Pro2878Arg)
c.8630C>G (p.Pro2877Arg)
c.8576C>G (p.Pro2859Arg)
c.8546C>G (p.Pro2849Arg)
c.8501C>G (p.Pro2834Arg)
c.8096C>G (p.Pro2699Arg)
c.7454C>G (p.Pro2485Arg)
c.4964C>G (p.Pro1655Arg)
10g.71807648C>TCA377131552CDH23c.8441C>T (p.Pro2814Leu)
c.2374C>T (n.2374C>T)
c.2038C>T (n.2038C>T)
c.8456C>T (p.Pro2819Leu)
c.1721C>T (p.Pro574Leu)
n.1977C>T
c.8636C>T (p.Pro2879Leu)
c.8570C>T (p.Pro2857Leu)
c.8633C>T (p.Pro2878Leu)
c.8630C>T (p.Pro2877Leu)
c.8576C>T (p.Pro2859Leu)
c.8546C>T (p.Pro2849Leu)
c.8501C>T (p.Pro2834Leu)
c.8096C>T (p.Pro2699Leu)
c.7454C>T (p.Pro2485Leu)
c.4964C>T (p.Pro1655Leu)
 gnomAD v4 COSMIC
10g.71807649C>ACA470282495CDH23c.8442C>A (p.Pro2814=)
c.2375C>A (n.2375C>A)
c.2039C>A (n.2039C>A)
c.8457C>A (p.Pro2819=)
c.1722C>A (p.Pro574=)
n.1978C>A
c.8637C>A (p.Pro2879=)
c.8571C>A (p.Pro2857=)
c.8634C>A (p.Pro2878=)
c.8631C>A (p.Pro2877=)
c.8577C>A (p.Pro2859=)
c.8547C>A (p.Pro2849=)
c.8502C>A (p.Pro2834=)
c.8097C>A (p.Pro2699=)
c.7455C>A (p.Pro2485=)
c.4965C>A (p.Pro1655=)
 dbSNP
10g.71807649C>GCA470282496CDH23c.8442C>G (p.Pro2814=)
c.2375C>G (n.2375C>G)
c.2039C>G (n.2039C>G)
c.8457C>G (p.Pro2819=)
c.1722C>G (p.Pro574=)
n.1978C>G
c.8637C>G (p.Pro2879=)
c.8571C>G (p.Pro2857=)
c.8634C>G (p.Pro2878=)
c.8631C>G (p.Pro2877=)
c.8577C>G (p.Pro2859=)
c.8547C>G (p.Pro2849=)
c.8502C>G (p.Pro2834=)
c.8097C>G (p.Pro2699=)
c.7455C>G (p.Pro2485=)
c.4965C>G (p.Pro1655=)
10g.71807649C>TCA470282497CDH23c.8442C>T (p.Pro2814=)
c.2375C>T (n.2375C>T)
c.2039C>T (n.2039C>T)
c.8457C>T (p.Pro2819=)
c.1722C>T (p.Pro574=)
n.1978C>T
c.8637C>T (p.Pro2879=)
c.8571C>T (p.Pro2857=)
c.8634C>T (p.Pro2878=)
c.8631C>T (p.Pro2877=)
c.8577C>T (p.Pro2859=)
c.8547C>T (p.Pro2849=)
c.8502C>T (p.Pro2834=)
c.8097C>T (p.Pro2699=)
c.7455C>T (p.Pro2485=)
c.4965C>T (p.Pro1655=)
10g.71807650C>ACA5546655CDH23c.8443C>A (p.Arg2815Ser)
c.2376C>A (n.2376C>A)
c.2040C>A (n.2040C>A)
c.8458C>A (p.Arg2820Ser)
c.1723C>A (p.Arg575Ser)
n.1979C>A
c.8638C>A (p.Arg2880Ser)
c.8572C>A (p.Arg2858Ser)
c.8635C>A (p.Arg2879Ser)
c.8632C>A (p.Arg2878Ser)
c.8578C>A (p.Arg2860Ser)
c.8548C>A (p.Arg2850Ser)
c.8503C>A (p.Arg2835Ser)
c.8098C>A (p.Arg2700Ser)
c.7456C>A (p.Arg2486Ser)
c.4966C>A (p.Arg1656Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71807650C=CA1918886587CDH23c.8443C= (p.Arg2815=)
c.2376C= (n.2376C=)
c.2040C= (n.2040C=)
c.8458C= (p.Arg2820=)
c.1723C= (p.Arg575=)
n.1979C=
c.8638C= (p.Arg2880=)
c.8572C= (p.Arg2858=)
c.8635C= (p.Arg2879=)
c.8632C= (p.Arg2878=)
c.8578C= (p.Arg2860=)
c.8548C= (p.Arg2850=)
c.8503C= (p.Arg2835=)
c.8098C= (p.Arg2700=)
c.7456C= (p.Arg2486=)
c.4966C= (p.Arg1656=)
10g.71807650C>GCA5546654CDH23c.8443C>G (p.Arg2815Gly)
c.2376C>G (n.2376C>G)
c.2040C>G (n.2040C>G)
c.8458C>G (p.Arg2820Gly)
c.1723C>G (p.Arg575Gly)
n.1979C>G
c.8638C>G (p.Arg2880Gly)
c.8572C>G (p.Arg2858Gly)
c.8635C>G (p.Arg2879Gly)
c.8632C>G (p.Arg2878Gly)
c.8578C>G (p.Arg2860Gly)
c.8548C>G (p.Arg2850Gly)
c.8503C>G (p.Arg2835Gly)
c.8098C>G (p.Arg2700Gly)
c.7456C>G (p.Arg2486Gly)
c.4966C>G (p.Arg1656Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71807650C>TCA377131555CDH23c.8443C>T (p.Arg2815Cys)
c.2376C>T (n.2376C>T)
c.2040C>T (n.2040C>T)
c.8458C>T (p.Arg2820Cys)
c.1723C>T (p.Arg575Cys)
n.1979C>T
c.8638C>T (p.Arg2880Cys)
c.8572C>T (p.Arg2858Cys)
c.8635C>T (p.Arg2879Cys)
c.8632C>T (p.Arg2878Cys)
c.8578C>T (p.Arg2860Cys)
c.8548C>T (p.Arg2850Cys)
c.8503C>T (p.Arg2835Cys)
c.8098C>T (p.Arg2700Cys)
c.7456C>T (p.Arg2486Cys)
c.4966C>T (p.Arg1656Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
10g.71807651delCA2697558468CDH23c.8444del (p.Arg2815LeufsTer22)
c.2377del (n.2377del)
c.2041del (n.2041del)
c.8459del (p.Arg2820LeufsTer22)
c.1724del (p.Arg575LeufsTer22)
n.1980del
c.8639del (p.Arg2880LeufsTer22)
c.8573del (p.Arg2858LeufsTer22)
c.8636del (p.Arg2879LeufsTer22)
c.8633del (p.Arg2878LeufsTer22)
c.8579del (p.Arg2860LeufsTer22)
c.8549del (p.Arg2850LeufsTer22)
c.8504del (p.Arg2835LeufsTer22)
c.8099del (p.Arg2700LeufsTer22)
c.7457del (p.Arg2486LeufsTer22)
c.4967del (p.Arg1656LeufsTer22)
 ClinVar
10g.71807651G>ACA5546656CDH23c.8444G>A (p.Arg2815His)
c.2377G>A (n.2377G>A)
c.2041G>A (n.2041G>A)
c.8459G>A (p.Arg2820His)
c.1724G>A (p.Arg575His)
n.1980G>A
c.8639G>A (p.Arg2880His)
c.8573G>A (p.Arg2858His)
c.8636G>A (p.Arg2879His)
c.8633G>A (p.Arg2878His)
c.8579G>A (p.Arg2860His)
c.8549G>A (p.Arg2850His)
c.8504G>A (p.Arg2835His)
c.8099G>A (p.Arg2700His)
c.7457G>A (p.Arg2486His)
c.4967G>A (p.Arg1656His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71807651G>CCA377131556CDH23c.8444G>C (p.Arg2815Pro)
c.2377G>C (n.2377G>C)
c.2041G>C (n.2041G>C)
c.8459G>C (p.Arg2820Pro)
c.1724G>C (p.Arg575Pro)
n.1980G>C
c.8639G>C (p.Arg2880Pro)
c.8573G>C (p.Arg2858Pro)
c.8636G>C (p.Arg2879Pro)
c.8633G>C (p.Arg2878Pro)
c.8579G>C (p.Arg2860Pro)
c.8549G>C (p.Arg2850Pro)
c.8504G>C (p.Arg2835Pro)
c.8099G>C (p.Arg2700Pro)
c.7457G>C (p.Arg2486Pro)
c.4967G>C (p.Arg1656Pro)
 dbSNP
10g.71807651G=CA1918886591CDH23c.8444G= (p.Arg2815=)
c.2377G= (n.2377G=)
c.2041G= (n.2041G=)
c.8459G= (p.Arg2820=)
c.1724G= (p.Arg575=)
n.1980G=
c.8639G= (p.Arg2880=)
c.8573G= (p.Arg2858=)
c.8636G= (p.Arg2879=)
c.8633G= (p.Arg2878=)
c.8579G= (p.Arg2860=)
c.8549G= (p.Arg2850=)
c.8504G= (p.Arg2835=)
c.8099G= (p.Arg2700=)
c.7457G= (p.Arg2486=)
c.4967G= (p.Arg1656=)
10g.71807651G>TCA377131557CDH23c.8444G>T (p.Arg2815Leu)
c.2377G>T (n.2377G>T)
c.2041G>T (n.2041G>T)
c.8459G>T (p.Arg2820Leu)
c.1724G>T (p.Arg575Leu)
n.1980G>T
c.8639G>T (p.Arg2880Leu)
c.8573G>T (p.Arg2858Leu)
c.8636G>T (p.Arg2879Leu)
c.8633G>T (p.Arg2878Leu)
c.8579G>T (p.Arg2860Leu)
c.8549G>T (p.Arg2850Leu)
c.8504G>T (p.Arg2835Leu)
c.8099G>T (p.Arg2700Leu)
c.7457G>T (p.Arg2486Leu)
c.4967G>T (p.Arg1656Leu)
10g.71807652T>ACA470282499CDH23c.8445T>A (p.Arg2815=)
c.2378T>A (n.2378T>A)
c.2042T>A (n.2042T>A)
c.8460T>A (p.Arg2820=)
c.1725T>A (p.Arg575=)
n.1981T>A
c.8640T>A (p.Arg2880=)
c.8574T>A (p.Arg2858=)
c.8637T>A (p.Arg2879=)
c.8634T>A (p.Arg2878=)
c.8580T>A (p.Arg2860=)
c.8550T>A (p.Arg2850=)
c.8505T>A (p.Arg2835=)
c.8100T>A (p.Arg2700=)
c.7458T>A (p.Arg2486=)
c.4968T>A (p.Arg1656=)
10g.71807652T>CCA470282500CDH23c.8445T>C (p.Arg2815=)
c.2378T>C (n.2378T>C)
c.2042T>C (n.2042T>C)
c.8460T>C (p.Arg2820=)
c.1725T>C (p.Arg575=)
n.1981T>C
c.8640T>C (p.Arg2880=)
c.8574T>C (p.Arg2858=)
c.8637T>C (p.Arg2879=)
c.8634T>C (p.Arg2878=)
c.8580T>C (p.Arg2860=)
c.8550T>C (p.Arg2850=)
c.8505T>C (p.Arg2835=)
c.8100T>C (p.Arg2700=)
c.7458T>C (p.Arg2486=)
c.4968T>C (p.Arg1656=)
10g.71807652T>GCA470282501CDH23c.8445T>G (p.Arg2815=)
c.2378T>G (n.2378T>G)
c.2042T>G (n.2042T>G)
c.8460T>G (p.Arg2820=)
c.1725T>G (p.Arg575=)
n.1981T>G
c.8640T>G (p.Arg2880=)
c.8574T>G (p.Arg2858=)
c.8637T>G (p.Arg2879=)
c.8634T>G (p.Arg2878=)
c.8580T>G (p.Arg2860=)
c.8550T>G (p.Arg2850=)
c.8505T>G (p.Arg2835=)
c.8100T>G (p.Arg2700=)
c.7458T>G (p.Arg2486=)
c.4968T>G (p.Arg1656=)
10g.71807653G>ACA377131558CDH23c.8446G>A (p.Gly2816Arg)
c.2379G>A (n.2379G>A)
c.2043G>A (n.2043G>A)
c.8461G>A (p.Gly2821Arg)
c.1726G>A (p.Gly576Arg)
n.1982G>A
c.8641G>A (p.Gly2881Arg)
c.8575G>A (p.Gly2859Arg)
c.8638G>A (p.Gly2880Arg)
c.8635G>A (p.Gly2879Arg)
c.8581G>A (p.Gly2861Arg)
c.8551G>A (p.Gly2851Arg)
c.8506G>A (p.Gly2836Arg)
c.8101G>A (p.Gly2701Arg)
c.7459G>A (p.Gly2487Arg)
c.4969G>A (p.Gly1657Arg)
10g.71807653G>CCA377131560CDH23c.8446G>C (p.Gly2816Arg)
c.2379G>C (n.2379G>C)
c.2043G>C (n.2043G>C)
c.8461G>C (p.Gly2821Arg)
c.1726G>C (p.Gly576Arg)
n.1982G>C
c.8641G>C (p.Gly2881Arg)
c.8575G>C (p.Gly2859Arg)
c.8638G>C (p.Gly2880Arg)
c.8635G>C (p.Gly2879Arg)
c.8581G>C (p.Gly2861Arg)
c.8551G>C (p.Gly2851Arg)
c.8506G>C (p.Gly2836Arg)
c.8101G>C (p.Gly2701Arg)
c.7459G>C (p.Gly2487Arg)
c.4969G>C (p.Gly1657Arg)
10g.71807653G>TCA377131559CDH23c.8446G>T (p.Gly2816Ter)
c.2379G>T (n.2379G>T)
c.2043G>T (n.2043G>T)
c.8461G>T (p.Gly2821Ter)
c.1726G>T (p.Gly576Ter)
n.1982G>T
c.8641G>T (p.Gly2881Ter)
c.8575G>T (p.Gly2859Ter)
c.8638G>T (p.Gly2880Ter)
c.8635G>T (p.Gly2879Ter)
c.8581G>T (p.Gly2861Ter)
c.8551G>T (p.Gly2851Ter)
c.8506G>T (p.Gly2836Ter)
c.8101G>T (p.Gly2701Ter)
c.7459G>T (p.Gly2487Ter)
c.4969G>T (p.Gly1657Ter)
 dbSNP
10g.71807654G>ACA5546657CDH23c.8447G>A (p.Gly2816Glu)
c.2380G>A (n.2380G>A)
c.2044G>A (n.2044G>A)
c.8462G>A (p.Gly2821Glu)
c.1727G>A (p.Gly576Glu)
n.1983G>A
c.8642G>A (p.Gly2881Glu)
c.8576G>A (p.Gly2859Glu)
c.8639G>A (p.Gly2880Glu)
c.8636G>A (p.Gly2879Glu)
c.8582G>A (p.Gly2861Glu)
c.8552G>A (p.Gly2851Glu)
c.8507G>A (p.Gly2836Glu)
c.8102G>A (p.Gly2701Glu)
c.7460G>A (p.Gly2487Glu)
c.4970G>A (p.Gly1657Glu)
 dbSNP ExAC gnomAD v2
10g.71807654G>CCA377131561CDH23c.8447G>C (p.Gly2816Ala)
c.2380G>C (n.2380G>C)
c.2044G>C (n.2044G>C)
c.8462G>C (p.Gly2821Ala)
c.1727G>C (p.Gly576Ala)
n.1983G>C
c.8642G>C (p.Gly2881Ala)
c.8576G>C (p.Gly2859Ala)
c.8639G>C (p.Gly2880Ala)
c.8636G>C (p.Gly2879Ala)
c.8582G>C (p.Gly2861Ala)
c.8552G>C (p.Gly2851Ala)
c.8507G>C (p.Gly2836Ala)
c.8102G>C (p.Gly2701Ala)
c.7460G>C (p.Gly2487Ala)
c.4970G>C (p.Gly1657Ala)
10g.71807654G=CA1918886594CDH23c.8447G= (p.Gly2816=)
c.2380G= (n.2380G=)
c.2044G= (n.2044G=)
c.8462G= (p.Gly2821=)
c.1727G= (p.Gly576=)
n.1983G=
c.8642G= (p.Gly2881=)
c.8576G= (p.Gly2859=)
c.8639G= (p.Gly2880=)
c.8636G= (p.Gly2879=)
c.8582G= (p.Gly2861=)
c.8552G= (p.Gly2851=)
c.8507G= (p.Gly2836=)
c.8102G= (p.Gly2701=)
c.7460G= (p.Gly2487=)
c.4970G= (p.Gly1657=)
10g.71807654G>TCA377131562CDH23c.8447G>T (p.Gly2816Val)
c.2380G>T (n.2380G>T)
c.2044G>T (n.2044G>T)
c.8462G>T (p.Gly2821Val)
c.1727G>T (p.Gly576Val)
n.1983G>T
c.8642G>T (p.Gly2881Val)
c.8576G>T (p.Gly2859Val)
c.8639G>T (p.Gly2880Val)
c.8636G>T (p.Gly2879Val)
c.8582G>T (p.Gly2861Val)
c.8552G>T (p.Gly2851Val)
c.8507G>T (p.Gly2836Val)
c.8102G>T (p.Gly2701Val)
c.7460G>T (p.Gly2487Val)
c.4970G>T (p.Gly1657Val)
10g.71807655A>CCA470282506CDH23c.8448A>C (p.Gly2816=)
c.2381A>C (n.2381A>C)
c.2045A>C (n.2045A>C)
c.8463A>C (p.Gly2821=)
c.1728A>C (p.Gly576=)
n.1984A>C
c.8643A>C (p.Gly2881=)
c.8577A>C (p.Gly2859=)
c.8640A>C (p.Gly2880=)
c.8637A>C (p.Gly2879=)
c.8583A>C (p.Gly2861=)
c.8553A>C (p.Gly2851=)
c.8508A>C (p.Gly2836=)
c.8103A>C (p.Gly2701=)
c.7461A>C (p.Gly2487=)
c.4971A>C (p.Gly1657=)
 dbSNP
10g.71807655A>GCA470282504CDH23c.8448A>G (p.Gly2816=)
c.2381A>G (n.2381A>G)
c.2045A>G (n.2045A>G)
c.8463A>G (p.Gly2821=)
c.1728A>G (p.Gly576=)
n.1984A>G
c.8643A>G (p.Gly2881=)
c.8577A>G (p.Gly2859=)
c.8640A>G (p.Gly2880=)
c.8637A>G (p.Gly2879=)
c.8583A>G (p.Gly2861=)
c.8553A>G (p.Gly2851=)
c.8508A>G (p.Gly2836=)
c.8103A>G (p.Gly2701=)
c.7461A>G (p.Gly2487=)
c.4971A>G (p.Gly1657=)
10g.71807655A>TCA470282503CDH23c.8448A>T (p.Gly2816=)
c.2381A>T (n.2381A>T)
c.2045A>T (n.2045A>T)
c.8463A>T (p.Gly2821=)
c.1728A>T (p.Gly576=)
n.1984A>T
c.8643A>T (p.Gly2881=)
c.8577A>T (p.Gly2859=)
c.8640A>T (p.Gly2880=)
c.8637A>T (p.Gly2879=)
c.8583A>T (p.Gly2861=)
c.8553A>T (p.Gly2851=)
c.8508A>T (p.Gly2836=)
c.8103A>T (p.Gly2701=)
c.7461A>T (p.Gly2487=)
c.4971A>T (p.Gly1657=)
 dbSNP gnomAD v4
10g.71807656C>ACA377131563CDH23c.8449C>A (p.Pro2817Thr)
c.2382C>A (n.2382C>A)
c.2046C>A (n.2046C>A)
c.8464C>A (p.Pro2822Thr)
c.1729C>A (p.Pro577Thr)
n.1985C>A
c.8644C>A (p.Pro2882Thr)
c.8578C>A (p.Pro2860Thr)
c.8641C>A (p.Pro2881Thr)
c.8638C>A (p.Pro2880Thr)
c.8584C>A (p.Pro2862Thr)
c.8554C>A (p.Pro2852Thr)
c.8509C>A (p.Pro2837Thr)
c.8104C>A (p.Pro2702Thr)
c.7462C>A (p.Pro2488Thr)
c.4972C>A (p.Pro1658Thr)
10g.71807656C>GCA377131564CDH23c.8449C>G (p.Pro2817Ala)
c.2382C>G (n.2382C>G)
c.2046C>G (n.2046C>G)
c.8464C>G (p.Pro2822Ala)
c.1729C>G (p.Pro577Ala)
n.1985C>G
c.8644C>G (p.Pro2882Ala)
c.8578C>G (p.Pro2860Ala)
c.8641C>G (p.Pro2881Ala)
c.8638C>G (p.Pro2880Ala)
c.8584C>G (p.Pro2862Ala)
c.8554C>G (p.Pro2852Ala)
c.8509C>G (p.Pro2837Ala)
c.8104C>G (p.Pro2702Ala)
c.7462C>G (p.Pro2488Ala)
c.4972C>G (p.Pro1658Ala)
10g.71807656C>TCA377131565CDH23c.8449C>T (p.Pro2817Ser)
c.2382C>T (n.2382C>T)
c.2046C>T (n.2046C>T)
c.8464C>T (p.Pro2822Ser)
c.1729C>T (p.Pro577Ser)
n.1985C>T
c.8644C>T (p.Pro2882Ser)
c.8578C>T (p.Pro2860Ser)
c.8641C>T (p.Pro2881Ser)
c.8638C>T (p.Pro2880Ser)
c.8584C>T (p.Pro2862Ser)
c.8554C>T (p.Pro2852Ser)
c.8509C>T (p.Pro2837Ser)
c.8104C>T (p.Pro2702Ser)
c.7462C>T (p.Pro2488Ser)
c.4972C>T (p.Pro1658Ser)
 COSMIC
10g.71807657C>ACA377131566CDH23c.8450C>A (p.Pro2817His)
c.2383C>A (n.2383C>A)
c.2047C>A (n.2047C>A)
c.8465C>A (p.Pro2822His)
c.1730C>A (p.Pro577His)
n.1986C>A
c.8645C>A (p.Pro2882His)
c.8579C>A (p.Pro2860His)
c.8642C>A (p.Pro2881His)
c.8639C>A (p.Pro2880His)
c.8585C>A (p.Pro2862His)
c.8555C>A (p.Pro2852His)
c.8510C>A (p.Pro2837His)
c.8105C>A (p.Pro2702His)
c.7463C>A (p.Pro2488His)
c.4973C>A (p.Pro1658His)
10g.71807657C>GCA377131567CDH23c.8450C>G (p.Pro2817Arg)
c.2383C>G (n.2383C>G)
c.2047C>G (n.2047C>G)
c.8465C>G (p.Pro2822Arg)
c.1730C>G (p.Pro577Arg)
n.1986C>G
c.8645C>G (p.Pro2882Arg)
c.8579C>G (p.Pro2860Arg)
c.8642C>G (p.Pro2881Arg)
c.8639C>G (p.Pro2880Arg)
c.8585C>G (p.Pro2862Arg)
c.8555C>G (p.Pro2852Arg)
c.8510C>G (p.Pro2837Arg)
c.8105C>G (p.Pro2702Arg)
c.7463C>G (p.Pro2488Arg)
c.4973C>G (p.Pro1658Arg)
10g.71807657C>TCA377131568CDH23c.8450C>T (p.Pro2817Leu)
c.2383C>T (n.2383C>T)
c.2047C>T (n.2047C>T)
c.8465C>T (p.Pro2822Leu)
c.1730C>T (p.Pro577Leu)
n.1986C>T
c.8645C>T (p.Pro2882Leu)
c.8579C>T (p.Pro2860Leu)
c.8642C>T (p.Pro2881Leu)
c.8639C>T (p.Pro2880Leu)
c.8585C>T (p.Pro2862Leu)
c.8555C>T (p.Pro2852Leu)
c.8510C>T (p.Pro2837Leu)
c.8105C>T (p.Pro2702Leu)
c.7463C>T (p.Pro2488Leu)
c.4973C>T (p.Pro1658Leu)
10g.71807658C>ACA470282511CDH23c.8451C>A (p.Pro2817=)
c.2384C>A (n.2384C>A)
c.2048C>A (n.2048C>A)
c.8466C>A (p.Pro2822=)
c.1731C>A (p.Pro577=)
n.1987C>A
c.8646C>A (p.Pro2882=)
c.8580C>A (p.Pro2860=)
c.8643C>A (p.Pro2881=)
c.8640C>A (p.Pro2880=)
c.8586C>A (p.Pro2862=)
c.8556C>A (p.Pro2852=)
c.8511C>A (p.Pro2837=)
c.8106C>A (p.Pro2702=)
c.7464C>A (p.Pro2488=)
c.4974C>A (p.Pro1658=)
10g.71807658C>GCA470282512CDH23c.8451C>G (p.Pro2817=)
c.2384C>G (n.2384C>G)
c.2048C>G (n.2048C>G)
c.8466C>G (p.Pro2822=)
c.1731C>G (p.Pro577=)
n.1987C>G
c.8646C>G (p.Pro2882=)
c.8580C>G (p.Pro2860=)
c.8643C>G (p.Pro2881=)
c.8640C>G (p.Pro2880=)
c.8586C>G (p.Pro2862=)
c.8556C>G (p.Pro2852=)
c.8511C>G (p.Pro2837=)
c.8106C>G (p.Pro2702=)
c.7464C>G (p.Pro2488=)
c.4974C>G (p.Pro1658=)
10g.71807658C>TCA470282513CDH23c.8451C>T (p.Pro2817=)
c.2384C>T (n.2384C>T)
c.2048C>T (n.2048C>T)
c.8466C>T (p.Pro2822=)
c.1731C>T (p.Pro577=)
n.1987C>T
c.8646C>T (p.Pro2882=)
c.8580C>T (p.Pro2860=)
c.8643C>T (p.Pro2881=)
c.8640C>T (p.Pro2880=)
c.8586C>T (p.Pro2862=)
c.8556C>T (p.Pro2852=)
c.8511C>T (p.Pro2837=)
c.8106C>T (p.Pro2702=)
c.7464C>T (p.Pro2488=)
c.4974C>T (p.Pro1658=)
10g.71807659T>ACA377131569CDH23c.8452T>A (p.Ser2818Thr)
c.2385T>A (n.2385T>A)
c.2049T>A (n.2049T>A)
c.8467T>A (p.Ser2823Thr)
c.1732T>A (p.Ser578Thr)
n.1988T>A
c.8647T>A (p.Ser2883Thr)
c.8581T>A (p.Ser2861Thr)
c.8644T>A (p.Ser2882Thr)
c.8641T>A (p.Ser2881Thr)
c.8587T>A (p.Ser2863Thr)
c.8557T>A (p.Ser2853Thr)
c.8512T>A (p.Ser2838Thr)
c.8107T>A (p.Ser2703Thr)
c.7465T>A (p.Ser2489Thr)
c.4975T>A (p.Ser1659Thr)
10g.71807659T>CCA377131570CDH23c.8452T>C (p.Ser2818Pro)
c.2385T>C (n.2385T>C)
c.2049T>C (n.2049T>C)
c.8467T>C (p.Ser2823Pro)
c.1732T>C (p.Ser578Pro)
n.1988T>C
c.8647T>C (p.Ser2883Pro)
c.8581T>C (p.Ser2861Pro)
c.8644T>C (p.Ser2882Pro)
c.8641T>C (p.Ser2881Pro)
c.8587T>C (p.Ser2863Pro)
c.8557T>C (p.Ser2853Pro)
c.8512T>C (p.Ser2838Pro)
c.8107T>C (p.Ser2703Pro)
c.7465T>C (p.Ser2489Pro)
c.4975T>C (p.Ser1659Pro)
 dbSNP
10g.71807659T>GCA377131571CDH23c.8452T>G (p.Ser2818Ala)
c.2385T>G (n.2385T>G)
c.2049T>G (n.2049T>G)
c.8467T>G (p.Ser2823Ala)
c.1732T>G (p.Ser578Ala)
n.1988T>G
c.8647T>G (p.Ser2883Ala)
c.8581T>G (p.Ser2861Ala)
c.8644T>G (p.Ser2882Ala)
c.8641T>G (p.Ser2881Ala)
c.8587T>G (p.Ser2863Ala)
c.8557T>G (p.Ser2853Ala)
c.8512T>G (p.Ser2838Ala)
c.8107T>G (p.Ser2703Ala)
c.7465T>G (p.Ser2489Ala)
c.4975T>G (p.Ser1659Ala)
 gnomAD v4
10g.71807660C>ACA377131573CDH23c.8453C>A (p.Ser2818Tyr)
c.2386C>A (n.2386C>A)
c.2050C>A (n.2050C>A)
c.8468C>A (p.Ser2823Tyr)
c.1733C>A (p.Ser578Tyr)
n.1989C>A
c.8648C>A (p.Ser2883Tyr)
c.8582C>A (p.Ser2861Tyr)
c.8645C>A (p.Ser2882Tyr)
c.8642C>A (p.Ser2881Tyr)
c.8588C>A (p.Ser2863Tyr)
c.8558C>A (p.Ser2853Tyr)
c.8513C>A (p.Ser2838Tyr)
c.8108C>A (p.Ser2703Tyr)
c.7466C>A (p.Ser2489Tyr)
c.4976C>A (p.Ser1659Tyr)
10g.71807660C=CA1918886597CDH23c.8453C= (p.Ser2818=)
c.2386C= (n.2386C=)
c.2050C= (n.2050C=)
c.8468C= (p.Ser2823=)
c.1733C= (p.Ser578=)
n.1989C=
c.8648C= (p.Ser2883=)
c.8582C= (p.Ser2861=)
c.8645C= (p.Ser2882=)
c.8642C= (p.Ser2881=)
c.8588C= (p.Ser2863=)
c.8558C= (p.Ser2853=)
c.8513C= (p.Ser2838=)
c.8108C= (p.Ser2703=)
c.7466C= (p.Ser2489=)
c.4976C= (p.Ser1659=)
10g.71807660C>GCA377131572CDH23c.8453C>G (p.Ser2818Cys)
c.2386C>G (n.2386C>G)
c.2050C>G (n.2050C>G)
c.8468C>G (p.Ser2823Cys)
c.1733C>G (p.Ser578Cys)
n.1989C>G
c.8648C>G (p.Ser2883Cys)
c.8582C>G (p.Ser2861Cys)
c.8645C>G (p.Ser2882Cys)
c.8642C>G (p.Ser2881Cys)
c.8588C>G (p.Ser2863Cys)
c.8558C>G (p.Ser2853Cys)
c.8513C>G (p.Ser2838Cys)
c.8108C>G (p.Ser2703Cys)
c.7466C>G (p.Ser2489Cys)
c.4976C>G (p.Ser1659Cys)
10g.71807660C>TCA5546658CDH23c.8453C>T (p.Ser2818Phe)
c.2386C>T (n.2386C>T)
c.2050C>T (n.2050C>T)
c.8468C>T (p.Ser2823Phe)
c.1733C>T (p.Ser578Phe)
n.1989C>T
c.8648C>T (p.Ser2883Phe)
c.8582C>T (p.Ser2861Phe)
c.8645C>T (p.Ser2882Phe)
c.8642C>T (p.Ser2881Phe)
c.8588C>T (p.Ser2863Phe)
c.8558C>T (p.Ser2853Phe)
c.8513C>T (p.Ser2838Phe)
c.8108C>T (p.Ser2703Phe)
c.7466C>T (p.Ser2489Phe)
c.4976C>T (p.Ser1659Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71807661C>ACA470282515CDH23c.8454C>A (p.Ser2818=)
c.2387C>A (n.2387C>A)
c.2051C>A (n.2051C>A)
c.8469C>A (p.Ser2823=)
c.1734C>A (p.Ser578=)
n.1990C>A
c.8649C>A (p.Ser2883=)
c.8583C>A (p.Ser2861=)
c.8646C>A (p.Ser2882=)
c.8643C>A (p.Ser2881=)
c.8589C>A (p.Ser2863=)
c.8559C>A (p.Ser2853=)
c.8514C>A (p.Ser2838=)
c.8109C>A (p.Ser2703=)
c.7467C>A (p.Ser2489=)
c.4977C>A (p.Ser1659=)
 dbSNP
10g.71807661C=CA1918886600CDH23c.8454C= (p.Ser2818=)
c.2387C= (n.2387C=)
c.2051C= (n.2051C=)
c.8469C= (p.Ser2823=)
c.1734C= (p.Ser578=)
n.1990C=
c.8649C= (p.Ser2883=)
c.8583C= (p.Ser2861=)
c.8646C= (p.Ser2882=)
c.8643C= (p.Ser2881=)
c.8589C= (p.Ser2863=)
c.8559C= (p.Ser2853=)
c.8514C= (p.Ser2838=)
c.8109C= (p.Ser2703=)
c.7467C= (p.Ser2489=)
c.4977C= (p.Ser1659=)
10g.71807661C>GCA470282516CDH23c.8454C>G (p.Ser2818=)
c.2387C>G (n.2387C>G)
c.2051C>G (n.2051C>G)
c.8469C>G (p.Ser2823=)
c.1734C>G (p.Ser578=)
n.1990C>G
c.8649C>G (p.Ser2883=)
c.8583C>G (p.Ser2861=)
c.8646C>G (p.Ser2882=)
c.8643C>G (p.Ser2881=)
c.8589C>G (p.Ser2863=)
c.8559C>G (p.Ser2853=)
c.8514C>G (p.Ser2838=)
c.8109C>G (p.Ser2703=)
c.7467C>G (p.Ser2489=)
c.4977C>G (p.Ser1659=)
 gnomAD v4
10g.71807661C>TCA470282517CDH23c.8454C>T (p.Ser2818=)
c.2387C>T (n.2387C>T)
c.2051C>T (n.2051C>T)
c.8469C>T (p.Ser2823=)
c.1734C>T (p.Ser578=)
n.1990C>T
c.8649C>T (p.Ser2883=)
c.8583C>T (p.Ser2861=)
c.8646C>T (p.Ser2882=)
c.8643C>T (p.Ser2881=)
c.8589C>T (p.Ser2863=)
c.8559C>T (p.Ser2853=)
c.8514C>T (p.Ser2838=)
c.8109C>T (p.Ser2703=)
c.7467C>T (p.Ser2489=)
c.4977C>T (p.Ser1659=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71807662C>ACA377131574CDH23c.8455C>A (p.Pro2819Thr)
c.2388C>A (n.2388C>A)
c.2052C>A (n.2052C>A)
c.8470C>A (p.Pro2824Thr)
c.1735C>A (p.Pro579Thr)
n.1991C>A
c.8650C>A (p.Pro2884Thr)
c.8584C>A (p.Pro2862Thr)
c.8647C>A (p.Pro2883Thr)
c.8644C>A (p.Pro2882Thr)
c.8590C>A (p.Pro2864Thr)
c.8560C>A (p.Pro2854Thr)
c.8515C>A (p.Pro2839Thr)
c.8110C>A (p.Pro2704Thr)
c.7468C>A (p.Pro2490Thr)
c.4978C>A (p.Pro1660Thr)
 dbSNP
10g.71807662C>GCA377131576CDH23c.8455C>G (p.Pro2819Ala)
c.2388C>G (n.2388C>G)
c.2052C>G (n.2052C>G)
c.8470C>G (p.Pro2824Ala)
c.1735C>G (p.Pro579Ala)
n.1991C>G
c.8650C>G (p.Pro2884Ala)
c.8584C>G (p.Pro2862Ala)
c.8647C>G (p.Pro2883Ala)
c.8644C>G (p.Pro2882Ala)
c.8590C>G (p.Pro2864Ala)
c.8560C>G (p.Pro2854Ala)
c.8515C>G (p.Pro2839Ala)
c.8110C>G (p.Pro2704Ala)
c.7468C>G (p.Pro2490Ala)
c.4978C>G (p.Pro1660Ala)
10g.71807662C>TCA377131575CDH23c.8455C>T (p.Pro2819Ser)
c.2388C>T (n.2388C>T)
c.2052C>T (n.2052C>T)
c.8470C>T (p.Pro2824Ser)
c.1735C>T (p.Pro579Ser)
n.1991C>T
c.8650C>T (p.Pro2884Ser)
c.8584C>T (p.Pro2862Ser)
c.8647C>T (p.Pro2883Ser)
c.8644C>T (p.Pro2882Ser)
c.8590C>T (p.Pro2864Ser)
c.8560C>T (p.Pro2854Ser)
c.8515C>T (p.Pro2839Ser)
c.8110C>T (p.Pro2704Ser)
c.7468C>T (p.Pro2490Ser)
c.4978C>T (p.Pro1660Ser)
 gnomAD v4 COSMIC
10g.71807663C>ACA377131577CDH23c.8456C>A (p.Pro2819Gln)
c.2389C>A (n.2389C>A)
c.2053C>A (n.2053C>A)
c.8471C>A (p.Pro2824Gln)
c.1736C>A (p.Pro579Gln)
n.1992C>A
c.8651C>A (p.Pro2884Gln)
c.8585C>A (p.Pro2862Gln)
c.8648C>A (p.Pro2883Gln)
c.8645C>A (p.Pro2882Gln)
c.8591C>A (p.Pro2864Gln)
c.8561C>A (p.Pro2854Gln)
c.8516C>A (p.Pro2839Gln)
c.8111C>A (p.Pro2704Gln)
c.7469C>A (p.Pro2490Gln)
c.4979C>A (p.Pro1660Gln)
10g.71807663C>GCA377131578CDH23c.8456C>G (p.Pro2819Arg)
c.2389C>G (n.2389C>G)
c.2053C>G (n.2053C>G)
c.8471C>G (p.Pro2824Arg)
c.1736C>G (p.Pro579Arg)
n.1992C>G
c.8651C>G (p.Pro2884Arg)
c.8585C>G (p.Pro2862Arg)
c.8648C>G (p.Pro2883Arg)
c.8645C>G (p.Pro2882Arg)
c.8591C>G (p.Pro2864Arg)
c.8561C>G (p.Pro2854Arg)
c.8516C>G (p.Pro2839Arg)
c.8111C>G (p.Pro2704Arg)
c.7469C>G (p.Pro2490Arg)
c.4979C>G (p.Pro1660Arg)
10g.71807663C>TCA377131579CDH23c.8456C>T (p.Pro2819Leu)
c.2389C>T (n.2389C>T)
c.2053C>T (n.2053C>T)
c.8471C>T (p.Pro2824Leu)
c.1736C>T (p.Pro579Leu)
n.1992C>T
c.8651C>T (p.Pro2884Leu)
c.8585C>T (p.Pro2862Leu)
c.8648C>T (p.Pro2883Leu)
c.8645C>T (p.Pro2882Leu)
c.8591C>T (p.Pro2864Leu)
c.8561C>T (p.Pro2854Leu)
c.8516C>T (p.Pro2839Leu)
c.8111C>T (p.Pro2704Leu)
c.7469C>T (p.Pro2490Leu)
c.4979C>T (p.Pro1660Leu)
 gnomAD v4
10g.71807664A>CCA470282520CDH23c.8457A>C (p.Pro2819=)
c.2390A>C (n.2390A>C)
c.2054A>C (n.2054A>C)
c.8472A>C (p.Pro2824=)
c.1737A>C (p.Pro579=)
n.1993A>C
c.8652A>C (p.Pro2884=)
c.8586A>C (p.Pro2862=)
c.8649A>C (p.Pro2883=)
c.8646A>C (p.Pro2882=)
c.8592A>C (p.Pro2864=)
c.8562A>C (p.Pro2854=)
c.8517A>C (p.Pro2839=)
c.8112A>C (p.Pro2704=)
c.7470A>C (p.Pro2490=)
c.4980A>C (p.Pro1660=)
10g.71807664A>GCA470282522CDH23c.8457A>G (p.Pro2819=)
c.2390A>G (n.2390A>G)
c.2054A>G (n.2054A>G)
c.8472A>G (p.Pro2824=)
c.1737A>G (p.Pro579=)
n.1993A>G
c.8652A>G (p.Pro2884=)
c.8586A>G (p.Pro2862=)
c.8649A>G (p.Pro2883=)
c.8646A>G (p.Pro2882=)
c.8592A>G (p.Pro2864=)
c.8562A>G (p.Pro2854=)
c.8517A>G (p.Pro2839=)
c.8112A>G (p.Pro2704=)
c.7470A>G (p.Pro2490=)
c.4980A>G (p.Pro1660=)
10g.71807664A>TCA470282523CDH23c.8457A>T (p.Pro2819=)
c.2390A>T (n.2390A>T)
c.2054A>T (n.2054A>T)
c.8472A>T (p.Pro2824=)
c.1737A>T (p.Pro579=)
n.1993A>T
c.8652A>T (p.Pro2884=)
c.8586A>T (p.Pro2862=)
c.8649A>T (p.Pro2883=)
c.8646A>T (p.Pro2882=)
c.8592A>T (p.Pro2864=)
c.8562A>T (p.Pro2854=)
c.8517A>T (p.Pro2839=)
c.8112A>T (p.Pro2704=)
c.7470A>T (p.Pro2490=)
c.4980A>T (p.Pro1660=)
10g.71807665A>CCA377131580CDH23c.8458A>C (p.Thr2820Pro)
c.2391A>C (n.2391A>C)
c.2055A>C (n.2055A>C)
c.8473A>C (p.Thr2825Pro)
c.1738A>C (p.Thr580Pro)
n.1994A>C
c.8653A>C (p.Thr2885Pro)
c.8587A>C (p.Thr2863Pro)
c.8650A>C (p.Thr2884Pro)
c.8647A>C (p.Thr2883Pro)
c.8593A>C (p.Thr2865Pro)
c.8563A>C (p.Thr2855Pro)
c.8518A>C (p.Thr2840Pro)
c.8113A>C (p.Thr2705Pro)
c.7471A>C (p.Thr2491Pro)
c.4981A>C (p.Thr1661Pro)
10g.71807665A>GCA377131581CDH23c.8458A>G (p.Thr2820Ala)
c.2391A>G (n.2391A>G)
c.2055A>G (n.2055A>G)
c.8473A>G (p.Thr2825Ala)
c.1738A>G (p.Thr580Ala)
n.1994A>G
c.8653A>G (p.Thr2885Ala)
c.8587A>G (p.Thr2863Ala)
c.8650A>G (p.Thr2884Ala)
c.8647A>G (p.Thr2883Ala)
c.8593A>G (p.Thr2865Ala)
c.8563A>G (p.Thr2855Ala)
c.8518A>G (p.Thr2840Ala)
c.8113A>G (p.Thr2705Ala)
c.7471A>G (p.Thr2491Ala)
c.4981A>G (p.Thr1661Ala)
10g.71807665A>TCA377131582CDH23c.8458A>T (p.Thr2820Ser)
c.2391A>T (n.2391A>T)
c.2055A>T (n.2055A>T)
c.8473A>T (p.Thr2825Ser)
c.1738A>T (p.Thr580Ser)
n.1994A>T
c.8653A>T (p.Thr2885Ser)
c.8587A>T (p.Thr2863Ser)
c.8650A>T (p.Thr2884Ser)
c.8647A>T (p.Thr2883Ser)
c.8593A>T (p.Thr2865Ser)
c.8563A>T (p.Thr2855Ser)
c.8518A>T (p.Thr2840Ser)
c.8113A>T (p.Thr2705Ser)
c.7471A>T (p.Thr2491Ser)
c.4981A>T (p.Thr1661Ser)
 dbSNP
10g.71807666C>ACA377131583CDH23c.8459C>A (p.Thr2820Asn)
c.2392C>A (n.2392C>A)
c.2056C>A (n.2056C>A)
c.8474C>A (p.Thr2825Asn)
c.1739C>A (p.Thr580Asn)
n.1995C>A
c.8654C>A (p.Thr2885Asn)
c.8588C>A (p.Thr2863Asn)
c.8651C>A (p.Thr2884Asn)
c.8648C>A (p.Thr2883Asn)
c.8594C>A (p.Thr2865Asn)
c.8564C>A (p.Thr2855Asn)
c.8519C>A (p.Thr2840Asn)
c.8114C>A (p.Thr2705Asn)
c.7472C>A (p.Thr2491Asn)
c.4982C>A (p.Thr1661Asn)
 dbSNP
10g.71807666C=CA1918886603CDH23c.8459C= (p.Thr2820=)
c.2392C= (n.2392C=)
c.2056C= (n.2056C=)
c.8474C= (p.Thr2825=)
c.1739C= (p.Thr580=)
n.1995C=
c.8654C= (p.Thr2885=)
c.8588C= (p.Thr2863=)
c.8651C= (p.Thr2884=)
c.8648C= (p.Thr2883=)
c.8594C= (p.Thr2865=)
c.8564C= (p.Thr2855=)
c.8519C= (p.Thr2840=)
c.8114C= (p.Thr2705=)
c.7472C= (p.Thr2491=)
c.4982C= (p.Thr1661=)
10g.71807666C>GCA377131584CDH23c.8459C>G (p.Thr2820Ser)
c.2392C>G (n.2392C>G)
c.2056C>G (n.2056C>G)
c.8474C>G (p.Thr2825Ser)
c.1739C>G (p.Thr580Ser)
n.1995C>G
c.8654C>G (p.Thr2885Ser)
c.8588C>G (p.Thr2863Ser)
c.8651C>G (p.Thr2884Ser)
c.8648C>G (p.Thr2883Ser)
c.8594C>G (p.Thr2865Ser)
c.8564C>G (p.Thr2855Ser)
c.8519C>G (p.Thr2840Ser)
c.8114C>G (p.Thr2705Ser)
c.7472C>G (p.Thr2491Ser)
c.4982C>G (p.Thr1661Ser)
10g.71807666C>TCA5546659CDH23c.8459C>T (p.Thr2820Ile)
c.2392C>T (n.2392C>T)
c.2056C>T (n.2056C>T)
c.8474C>T (p.Thr2825Ile)
c.1739C>T (p.Thr580Ile)
n.1995C>T
c.8654C>T (p.Thr2885Ile)
c.8588C>T (p.Thr2863Ile)
c.8651C>T (p.Thr2884Ile)
c.8648C>T (p.Thr2883Ile)
c.8594C>T (p.Thr2865Ile)
c.8564C>T (p.Thr2855Ile)
c.8519C>T (p.Thr2840Ile)
c.8114C>T (p.Thr2705Ile)
c.7472C>T (p.Thr2491Ile)
c.4982C>T (p.Thr1661Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71807667C>ACA470282526CDH23c.8460C>A (p.Thr2820=)
c.2393C>A (n.2393C>A)
c.2057C>A (n.2057C>A)
c.8475C>A (p.Thr2825=)
c.1740C>A (p.Thr580=)
n.1996C>A
c.8655C>A (p.Thr2885=)
c.8589C>A (p.Thr2863=)
c.8652C>A (p.Thr2884=)
c.8649C>A (p.Thr2883=)
c.8595C>A (p.Thr2865=)
c.8565C>A (p.Thr2855=)
c.8520C>A (p.Thr2840=)
c.8115C>A (p.Thr2705=)
c.7473C>A (p.Thr2491=)
c.4983C>A (p.Thr1661=)
 ClinVar dbSNP gnomAD v4
10g.71807667C=CA1918886607CDH23c.8460C= (p.Thr2820=)
c.2393C= (n.2393C=)
c.2057C= (n.2057C=)
c.8475C= (p.Thr2825=)
c.1740C= (p.Thr580=)
n.1996C=
c.8655C= (p.Thr2885=)
c.8589C= (p.Thr2863=)
c.8652C= (p.Thr2884=)
c.8649C= (p.Thr2883=)
c.8595C= (p.Thr2865=)
c.8565C= (p.Thr2855=)
c.8520C= (p.Thr2840=)
c.8115C= (p.Thr2705=)
c.7473C= (p.Thr2491=)
c.4983C= (p.Thr1661=)
10g.71807667C>GCA470282527CDH23c.8460C>G (p.Thr2820=)
c.2393C>G (n.2393C>G)
c.2057C>G (n.2057C>G)
c.8475C>G (p.Thr2825=)
c.1740C>G (p.Thr580=)
n.1996C>G
c.8655C>G (p.Thr2885=)
c.8589C>G (p.Thr2863=)
c.8652C>G (p.Thr2884=)
c.8649C>G (p.Thr2883=)
c.8595C>G (p.Thr2865=)
c.8565C>G (p.Thr2855=)
c.8520C>G (p.Thr2840=)
c.8115C>G (p.Thr2705=)
c.7473C>G (p.Thr2491=)
c.4983C>G (p.Thr1661=)
10g.71807667C>TCA470282528CDH23c.8460C>T (p.Thr2820=)
c.2393C>T (n.2393C>T)
c.2057C>T (n.2057C>T)
c.8475C>T (p.Thr2825=)
c.1740C>T (p.Thr580=)
n.1996C>T
c.8655C>T (p.Thr2885=)
c.8589C>T (p.Thr2863=)
c.8652C>T (p.Thr2884=)
c.8649C>T (p.Thr2883=)
c.8595C>T (p.Thr2865=)
c.8565C>T (p.Thr2855=)
c.8520C>T (p.Thr2840=)
c.8115C>T (p.Thr2705=)
c.7473C>T (p.Thr2491=)
c.4983C>T (p.Thr1661=)
10g.71807668C>ACA377131585CDH23c.8461C>A (p.Leu2821Ile)
c.2394C>A (n.2394C>A)
c.2058C>A (n.2058C>A)
c.8476C>A (p.Leu2826Ile)
c.1741C>A (p.Leu581Ile)
n.1997C>A
c.8656C>A (p.Leu2886Ile)
c.8590C>A (p.Leu2864Ile)
c.8653C>A (p.Leu2885Ile)
c.8650C>A (p.Leu2884Ile)
c.8596C>A (p.Leu2866Ile)
c.8566C>A (p.Leu2856Ile)
c.8521C>A (p.Leu2841Ile)
c.8116C>A (p.Leu2706Ile)
c.7474C>A (p.Leu2492Ile)
c.4984C>A (p.Leu1662Ile)
10g.71807668C=CA1918886610CDH23c.8461C= (p.Leu2821=)
c.2394C= (n.2394C=)
c.2058C= (n.2058C=)
c.8476C= (p.Leu2826=)
c.1741C= (p.Leu581=)
n.1997C=
c.8656C= (p.Leu2886=)
c.8590C= (p.Leu2864=)
c.8653C= (p.Leu2885=)
c.8650C= (p.Leu2884=)
c.8596C= (p.Leu2866=)
c.8566C= (p.Leu2856=)
c.8521C= (p.Leu2841=)
c.8116C= (p.Leu2706=)
c.7474C= (p.Leu2492=)
c.4984C= (p.Leu1662=)
10g.71807668C>GCA377131586CDH23c.8461C>G (p.Leu2821Val)
c.2394C>G (n.2394C>G)
c.2058C>G (n.2058C>G)
c.8476C>G (p.Leu2826Val)
c.1741C>G (p.Leu581Val)
n.1997C>G
c.8656C>G (p.Leu2886Val)
c.8590C>G (p.Leu2864Val)
c.8653C>G (p.Leu2885Val)
c.8650C>G (p.Leu2884Val)
c.8596C>G (p.Leu2866Val)
c.8566C>G (p.Leu2856Val)
c.8521C>G (p.Leu2841Val)
c.8116C>G (p.Leu2706Val)
c.7474C>G (p.Leu2492Val)
c.4984C>G (p.Leu1662Val)
10g.71807668C>TCA377131587CDH23c.8461C>T (p.Leu2821Phe)
c.2394C>T (n.2394C>T)
c.2058C>T (n.2058C>T)
c.8476C>T (p.Leu2826Phe)
c.1741C>T (p.Leu581Phe)
n.1997C>T
c.8656C>T (p.Leu2886Phe)
c.8590C>T (p.Leu2864Phe)
c.8653C>T (p.Leu2885Phe)
c.8650C>T (p.Leu2884Phe)
c.8596C>T (p.Leu2866Phe)
c.8566C>T (p.Leu2856Phe)
c.8521C>T (p.Leu2841Phe)
c.8116C>T (p.Leu2706Phe)
c.7474C>T (p.Leu2492Phe)
c.4984C>T (p.Leu1662Phe)
 dbSNP
10g.71807669T>ACA377131590CDH23c.8462T>A (p.Leu2821His)
c.2395T>A (n.2395T>A)
c.2059T>A (n.2059T>A)
c.8477T>A (p.Leu2826His)
c.1742T>A (p.Leu581His)
n.1998T>A
c.8657T>A (p.Leu2886His)
c.8591T>A (p.Leu2864His)
c.8654T>A (p.Leu2885His)
c.8651T>A (p.Leu2884His)
c.8597T>A (p.Leu2866His)
c.8567T>A (p.Leu2856His)
c.8522T>A (p.Leu2841His)
c.8117T>A (p.Leu2706His)
c.7475T>A (p.Leu2492His)
c.4985T>A (p.Leu1662His)
10g.71807669T>CCA377131588CDH23c.8462T>C (p.Leu2821Pro)
c.2395T>C (n.2395T>C)
c.2059T>C (n.2059T>C)
c.8477T>C (p.Leu2826Pro)
c.1742T>C (p.Leu581Pro)
n.1998T>C
c.8657T>C (p.Leu2886Pro)
c.8591T>C (p.Leu2864Pro)
c.8654T>C (p.Leu2885Pro)
c.8651T>C (p.Leu2884Pro)
c.8597T>C (p.Leu2866Pro)
c.8567T>C (p.Leu2856Pro)
c.8522T>C (p.Leu2841Pro)
c.8117T>C (p.Leu2706Pro)
c.7475T>C (p.Leu2492Pro)
c.4985T>C (p.Leu1662Pro)
10g.71807669T>GCA377131589CDH23c.8462T>G (p.Leu2821Arg)
c.2395T>G (n.2395T>G)
c.2059T>G (n.2059T>G)
c.8477T>G (p.Leu2826Arg)
c.1742T>G (p.Leu581Arg)
n.1998T>G
c.8657T>G (p.Leu2886Arg)
c.8591T>G (p.Leu2864Arg)
c.8654T>G (p.Leu2885Arg)
c.8651T>G (p.Leu2884Arg)
c.8597T>G (p.Leu2866Arg)
c.8567T>G (p.Leu2856Arg)
c.8522T>G (p.Leu2841Arg)
c.8117T>G (p.Leu2706Arg)
c.7475T>G (p.Leu2492Arg)
c.4985T>G (p.Leu1662Arg)
10g.71807669dupCA2695212120CDH23c.8462dup (p.Asp2822ArgfsTer5)
c.2395dup (n.2395dup)
c.2059dup (n.2059dup)
c.8477dup (p.Asp2827ArgfsTer5)
c.1742dup (p.Asp582ArgfsTer5)
n.1998dup
c.8657dup (p.Asp2887ArgfsTer5)
c.8591dup (p.Asp2865ArgfsTer5)
c.8654dup (p.Asp2886ArgfsTer5)
c.8651dup (p.Asp2885ArgfsTer5)
c.8597dup (p.Asp2867ArgfsTer5)
c.8567dup (p.Asp2857ArgfsTer5)
c.8522dup (p.Asp2842ArgfsTer5)
c.8117dup (p.Asp2707ArgfsTer5)
c.7475dup (p.Asp2493ArgfsTer5)
c.4985dup (p.Asp1663ArgfsTer5)
10g.71807670C>ACA470282530CDH23c.8463C>A (p.Leu2821=)
c.2396C>A (n.2396C>A)
c.2060C>A (n.2060C>A)
c.8478C>A (p.Leu2826=)
c.1743C>A (p.Leu581=)
n.1999C>A
c.8658C>A (p.Leu2886=)
c.8592C>A (p.Leu2864=)
c.8655C>A (p.Leu2885=)
c.8652C>A (p.Leu2884=)
c.8598C>A (p.Leu2866=)
c.8568C>A (p.Leu2856=)
c.8523C>A (p.Leu2841=)
c.8118C>A (p.Leu2706=)
c.7476C>A (p.Leu2492=)
c.4986C>A (p.Leu1662=)
10g.71807670C=CA1918886613CDH23c.8463C= (p.Leu2821=)
c.2396C= (n.2396C=)
c.2060C= (n.2060C=)
c.8478C= (p.Leu2826=)
c.1743C= (p.Leu581=)
n.1999C=
c.8658C= (p.Leu2886=)
c.8592C= (p.Leu2864=)
c.8655C= (p.Leu2885=)
c.8652C= (p.Leu2884=)
c.8598C= (p.Leu2866=)
c.8568C= (p.Leu2856=)
c.8523C= (p.Leu2841=)
c.8118C= (p.Leu2706=)
c.7476C= (p.Leu2492=)
c.4986C= (p.Leu1662=)
10g.71807670C>GCA470282531CDH23c.8463C>G (p.Leu2821=)
c.2396C>G (n.2396C>G)
c.2060C>G (n.2060C>G)
c.8478C>G (p.Leu2826=)
c.1743C>G (p.Leu581=)
n.1999C>G
c.8658C>G (p.Leu2886=)
c.8592C>G (p.Leu2864=)
c.8655C>G (p.Leu2885=)
c.8652C>G (p.Leu2884=)
c.8598C>G (p.Leu2866=)
c.8568C>G (p.Leu2856=)
c.8523C>G (p.Leu2841=)
c.8118C>G (p.Leu2706=)
c.7476C>G (p.Leu2492=)
c.4986C>G (p.Leu1662=)
10g.71807670C>TCA470282532CDH23c.8463C>T (p.Leu2821=)
c.2396C>T (n.2396C>T)
c.2060C>T (n.2060C>T)
c.8478C>T (p.Leu2826=)
c.1743C>T (p.Leu581=)
n.1999C>T
c.8658C>T (p.Leu2886=)
c.8592C>T (p.Leu2864=)
c.8655C>T (p.Leu2885=)
c.8652C>T (p.Leu2884=)
c.8598C>T (p.Leu2866=)
c.8568C>T (p.Leu2856=)
c.8523C>T (p.Leu2841=)
c.8118C>T (p.Leu2706=)
c.7476C>T (p.Leu2492=)
c.4986C>T (p.Leu1662=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71807671G>ACA5546660CDH23c.8464G>A (p.Asp2822Asn)
c.2397G>A (n.2397G>A)
c.2061G>A (n.2061G>A)
c.8479G>A (p.Asp2827Asn)
c.1744G>A (p.Asp582Asn)
n.2000G>A
c.8659G>A (p.Asp2887Asn)
c.8593G>A (p.Asp2865Asn)
c.8656G>A (p.Asp2886Asn)
c.8653G>A (p.Asp2885Asn)
c.8599G>A (p.Asp2867Asn)
c.8569G>A (p.Asp2857Asn)
c.8524G>A (p.Asp2842Asn)
c.8119G>A (p.Asp2707Asn)
c.7477G>A (p.Asp2493Asn)
c.4987G>A (p.Asp1663Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71807671G>CCA377131591CDH23c.8464G>C (p.Asp2822His)
c.2397G>C (n.2397G>C)
c.2061G>C (n.2061G>C)
c.8479G>C (p.Asp2827His)
c.1744G>C (p.Asp582His)
n.2000G>C
c.8659G>C (p.Asp2887His)
c.8593G>C (p.Asp2865His)
c.8656G>C (p.Asp2886His)
c.8653G>C (p.Asp2885His)
c.8599G>C (p.Asp2867His)
c.8569G>C (p.Asp2857His)
c.8524G>C (p.Asp2842His)
c.8119G>C (p.Asp2707His)
c.7477G>C (p.Asp2493His)
c.4987G>C (p.Asp1663His)
 dbSNP gnomAD v4
10g.71807671G=CA1918886619CDH23c.8464G= (p.Asp2822=)
c.2397G= (n.2397G=)
c.2061G= (n.2061G=)
c.8479G= (p.Asp2827=)
c.1744G= (p.Asp582=)
n.2000G=
c.8659G= (p.Asp2887=)
c.8593G= (p.Asp2865=)
c.8656G= (p.Asp2886=)
c.8653G= (p.Asp2885=)
c.8599G= (p.Asp2867=)
c.8569G= (p.Asp2857=)
c.8524G= (p.Asp2842=)
c.8119G= (p.Asp2707=)
c.7477G= (p.Asp2493=)
c.4987G= (p.Asp1663=)
10g.71807671G>TCA377131592CDH23c.8464G>T (p.Asp2822Tyr)
c.2397G>T (n.2397G>T)
c.2061G>T (n.2061G>T)
c.8479G>T (p.Asp2827Tyr)
c.1744G>T (p.Asp582Tyr)
n.2000G>T
c.8659G>T (p.Asp2887Tyr)
c.8593G>T (p.Asp2865Tyr)
c.8656G>T (p.Asp2886Tyr)
c.8653G>T (p.Asp2885Tyr)
c.8599G>T (p.Asp2867Tyr)
c.8569G>T (p.Asp2857Tyr)
c.8524G>T (p.Asp2842Tyr)
c.8119G>T (p.Asp2707Tyr)
c.7477G>T (p.Asp2493Tyr)
c.4987G>T (p.Asp1663Tyr)
10g.71807671dupCA2580615507CDH23c.8464dup (p.Asp2822GlyfsTer5)
c.2397dup (n.2397dup)
c.2061dup (n.2061dup)
c.8479dup (p.Asp2827GlyfsTer5)
c.1744dup (p.Asp582GlyfsTer5)
n.2000dup
c.8659dup (p.Asp2887GlyfsTer5)
c.8593dup (p.Asp2865GlyfsTer5)
c.8656dup (p.Asp2886GlyfsTer5)
c.8653dup (p.Asp2885GlyfsTer5)
c.8599dup (p.Asp2867GlyfsTer5)
c.8569dup (p.Asp2857GlyfsTer5)
c.8524dup (p.Asp2842GlyfsTer5)
c.8119dup (p.Asp2707GlyfsTer5)
c.7477dup (p.Asp2493GlyfsTer5)
c.4987dup (p.Asp1663GlyfsTer5)
 ClinVar gnomAD v4
10g.71807671_71807672delinsGACA1918886618CDH23c.8464_8465delinsGA (p.Asp2822=)
c.2397_2398delinsGA (n.2397_2398delinsGA)
c.2061_2062delinsGA (n.2061_2062delinsGA)
c.8479_8480delinsGA (p.Asp2827=)
c.1744_1745delinsGA (p.Asp582=)
n.2000_2001delinsGA
c.8659_8660delinsGA (p.Asp2887=)
c.8593_8594delinsGA (p.Asp2865=)
c.8656_8657delinsGA (p.Asp2886=)
c.8653_8654delinsGA (p.Asp2885=)
c.8599_8600delinsGA (p.Asp2867=)
c.8569_8570delinsGA (p.Asp2857=)
c.8524_8525delinsGA (p.Asp2842=)
c.8119_8120delinsGA (p.Asp2707=)
c.7477_7478delinsGA (p.Asp2493=)
c.4987_4988delinsGA (p.Asp1663=)
10g.71807672delCA5546661CDH23c.8465del (p.Asp2822AlafsTer15)
c.2398del (n.2398del)
c.2062del (n.2062del)
c.8480del (p.Asp2827AlafsTer15)
c.1745del (p.Asp582AlafsTer15)
n.2001del
c.8660del (p.Asp2887AlafsTer15)
c.8594del (p.Asp2865AlafsTer15)
c.8657del (p.Asp2886AlafsTer15)
c.8654del (p.Asp2885AlafsTer15)
c.8600del (p.Asp2867AlafsTer15)
c.8570del (p.Asp2857AlafsTer15)
c.8525del (p.Asp2842AlafsTer15)
c.8120del (p.Asp2707AlafsTer15)
c.7478del (p.Asp2493AlafsTer15)
c.4988del (p.Asp1663AlafsTer15)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71807672A=CA1918886629CDH23c.8465A= (p.Asp2822=)
c.2398A= (n.2398A=)
c.2062A= (n.2062A=)
c.8480A= (p.Asp2827=)
c.1745A= (p.Asp582=)
n.2001A=
c.8660A= (p.Asp2887=)
c.8594A= (p.Asp2865=)
c.8657A= (p.Asp2886=)
c.8654A= (p.Asp2885=)
c.8600A= (p.Asp2867=)
c.8570A= (p.Asp2857=)
c.8525A= (p.Asp2842=)
c.8120A= (p.Asp2707=)
c.7478A= (p.Asp2493=)
c.4988A= (p.Asp1663=)
10g.71807672A>CCA377131593CDH23c.8465A>C (p.Asp2822Ala)
c.2398A>C (n.2398A>C)
c.2062A>C (n.2062A>C)
c.8480A>C (p.Asp2827Ala)
c.1745A>C (p.Asp582Ala)
n.2001A>C
c.8660A>C (p.Asp2887Ala)
c.8594A>C (p.Asp2865Ala)
c.8657A>C (p.Asp2886Ala)
c.8654A>C (p.Asp2885Ala)
c.8600A>C (p.Asp2867Ala)
c.8570A>C (p.Asp2857Ala)
c.8525A>C (p.Asp2842Ala)
c.8120A>C (p.Asp2707Ala)
c.7478A>C (p.Asp2493Ala)
c.4988A>C (p.Asp1663Ala)
10g.71807672A>GCA5546662CDH23c.8465A>G (p.Asp2822Gly)
c.2398A>G (n.2398A>G)
c.2062A>G (n.2062A>G)
c.8480A>G (p.Asp2827Gly)
c.1745A>G (p.Asp582Gly)
n.2001A>G
c.8660A>G (p.Asp2887Gly)
c.8594A>G (p.Asp2865Gly)
c.8657A>G (p.Asp2886Gly)
c.8654A>G (p.Asp2885Gly)
c.8600A>G (p.Asp2867Gly)
c.8570A>G (p.Asp2857Gly)
c.8525A>G (p.Asp2842Gly)
c.8120A>G (p.Asp2707Gly)
c.7478A>G (p.Asp2493Gly)
c.4988A>G (p.Asp1663Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71807672A>TCA377131594CDH23c.8465A>T (p.Asp2822Val)
c.2398A>T (n.2398A>T)
c.2062A>T (n.2062A>T)
c.8480A>T (p.Asp2827Val)
c.1745A>T (p.Asp582Val)
n.2001A>T
c.8660A>T (p.Asp2887Val)
c.8594A>T (p.Asp2865Val)
c.8657A>T (p.Asp2886Val)
c.8654A>T (p.Asp2885Val)
c.8600A>T (p.Asp2867Val)
c.8570A>T (p.Asp2857Val)
c.8525A>T (p.Asp2842Val)
c.8120A>T (p.Asp2707Val)
c.7478A>T (p.Asp2493Val)
c.4988A>T (p.Asp1663Val)
 dbSNP
10g.71807673C>ACA377131595CDH23c.8466C>A (p.Asp2822Glu)
c.2399C>A (n.2399C>A)
c.2063C>A (n.2063C>A)
c.8481C>A (p.Asp2827Glu)
c.1746C>A (p.Asp582Glu)
n.2002C>A
c.8661C>A (p.Asp2887Glu)
c.8595C>A (p.Asp2865Glu)
c.8658C>A (p.Asp2886Glu)
c.8655C>A (p.Asp2885Glu)
c.8601C>A (p.Asp2867Glu)
c.8571C>A (p.Asp2857Glu)
c.8526C>A (p.Asp2842Glu)
c.8121C>A (p.Asp2707Glu)
c.7479C>A (p.Asp2493Glu)
c.4989C>A (p.Asp1663Glu)
10g.71807673C>GCA377131596CDH23c.8466C>G (p.Asp2822Glu)
c.2399C>G (n.2399C>G)
c.2063C>G (n.2063C>G)
c.8481C>G (p.Asp2827Glu)
c.1746C>G (p.Asp582Glu)
n.2002C>G
c.8661C>G (p.Asp2887Glu)
c.8595C>G (p.Asp2865Glu)
c.8658C>G (p.Asp2886Glu)
c.8655C>G (p.Asp2885Glu)
c.8601C>G (p.Asp2867Glu)
c.8571C>G (p.Asp2857Glu)
c.8526C>G (p.Asp2842Glu)
c.8121C>G (p.Asp2707Glu)
c.7479C>G (p.Asp2493Glu)
c.4989C>G (p.Asp1663Glu)
10g.71807673C>TCA470282537CDH23c.8466C>T (p.Asp2822=)
c.2399C>T (n.2399C>T)
c.2063C>T (n.2063C>T)
c.8481C>T (p.Asp2827=)
c.1746C>T (p.Asp582=)
n.2002C>T
c.8661C>T (p.Asp2887=)
c.8595C>T (p.Asp2865=)
c.8658C>T (p.Asp2886=)
c.8655C>T (p.Asp2885=)
c.8601C>T (p.Asp2867=)
c.8571C>T (p.Asp2857=)
c.8526C>T (p.Asp2842=)
c.8121C>T (p.Asp2707=)
c.7479C>T (p.Asp2493=)
c.4989C>T (p.Asp1663=)
10g.71807674C>ACA377131597CDH23c.8467C>A (p.Leu2823Met)
c.2400C>A (n.2400C>A)
c.2064C>A (n.2064C>A)
c.8482C>A (p.Leu2828Met)
c.1747C>A (p.Leu583Met)
n.2003C>A
c.8662C>A (p.Leu2888Met)
c.8596C>A (p.Leu2866Met)
c.8659C>A (p.Leu2887Met)
c.8656C>A (p.Leu2886Met)
c.8602C>A (p.Leu2868Met)
c.8572C>A (p.Leu2858Met)
c.8527C>A (p.Leu2843Met)
c.8122C>A (p.Leu2708Met)
c.7480C>A (p.Leu2494Met)
c.4990C>A (p.Leu1664Met)
10g.71807674C>GCA377131598CDH23c.8467C>G (p.Leu2823Val)
c.2400C>G (n.2400C>G)
c.2064C>G (n.2064C>G)
c.8482C>G (p.Leu2828Val)
c.1747C>G (p.Leu583Val)
n.2003C>G
c.8662C>G (p.Leu2888Val)
c.8596C>G (p.Leu2866Val)
c.8659C>G (p.Leu2887Val)
c.8656C>G (p.Leu2886Val)
c.8602C>G (p.Leu2868Val)
c.8572C>G (p.Leu2858Val)
c.8527C>G (p.Leu2843Val)
c.8122C>G (p.Leu2708Val)
c.7480C>G (p.Leu2494Val)
c.4990C>G (p.Leu1664Val)
10g.71807674C>TCA470282538CDH23c.8467C>T (p.Leu2823=)
c.2400C>T (n.2400C>T)
c.2064C>T (n.2064C>T)
c.8482C>T (p.Leu2828=)
c.1747C>T (p.Leu583=)
n.2003C>T
c.8662C>T (p.Leu2888=)
c.8596C>T (p.Leu2866=)
c.8659C>T (p.Leu2887=)
c.8656C>T (p.Leu2886=)
c.8602C>T (p.Leu2868=)
c.8572C>T (p.Leu2858=)
c.8527C>T (p.Leu2843=)
c.8122C>T (p.Leu2708=)
c.7480C>T (p.Leu2494=)
c.4990C>T (p.Leu1664=)
 gnomAD v4
10g.71807675T>ACA377131601CDH23c.8468T>A (p.Leu2823Gln)
c.2401T>A (n.2401T>A)
c.2065T>A (n.2065T>A)
c.8483T>A (p.Leu2828Gln)
c.1748T>A (p.Leu583Gln)
n.2004T>A
c.8663T>A (p.Leu2888Gln)
c.8597T>A (p.Leu2866Gln)
c.8660T>A (p.Leu2887Gln)
c.8657T>A (p.Leu2886Gln)
c.8603T>A (p.Leu2868Gln)
c.8573T>A (p.Leu2858Gln)
c.8528T>A (p.Leu2843Gln)
c.8123T>A (p.Leu2708Gln)
c.7481T>A (p.Leu2494Gln)
c.4991T>A (p.Leu1664Gln)
10g.71807675T>CCA377131600CDH23c.8468T>C (p.Leu2823Pro)
c.2401T>C (n.2401T>C)
c.2065T>C (n.2065T>C)
c.8483T>C (p.Leu2828Pro)
c.1748T>C (p.Leu583Pro)
n.2004T>C
c.8663T>C (p.Leu2888Pro)
c.8597T>C (p.Leu2866Pro)
c.8660T>C (p.Leu2887Pro)
c.8657T>C (p.Leu2886Pro)
c.8603T>C (p.Leu2868Pro)
c.8573T>C (p.Leu2858Pro)
c.8528T>C (p.Leu2843Pro)
c.8123T>C (p.Leu2708Pro)
c.7481T>C (p.Leu2494Pro)
c.4991T>C (p.Leu1664Pro)
 gnomAD v4
10g.71807675T>GCA377131599CDH23c.8468T>G (p.Leu2823Arg)
c.2401T>G (n.2401T>G)
c.2065T>G (n.2065T>G)
c.8483T>G (p.Leu2828Arg)
c.1748T>G (p.Leu583Arg)
n.2004T>G
c.8663T>G (p.Leu2888Arg)
c.8597T>G (p.Leu2866Arg)
c.8660T>G (p.Leu2887Arg)
c.8657T>G (p.Leu2886Arg)
c.8603T>G (p.Leu2868Arg)
c.8573T>G (p.Leu2858Arg)
c.8528T>G (p.Leu2843Arg)
c.8123T>G (p.Leu2708Arg)
c.7481T>G (p.Leu2494Arg)
c.4991T>G (p.Leu1664Arg)
10g.71807676G>ACA470282542CDH23c.8469G>A (p.Leu2823=)
c.2402G>A (n.2402G>A)
c.2066G>A (n.2066G>A)
c.8484G>A (p.Leu2828=)
c.1749G>A (p.Leu583=)
n.2005G>A
c.8664G>A (p.Leu2888=)
c.8598G>A (p.Leu2866=)
c.8661G>A (p.Leu2887=)
c.8658G>A (p.Leu2886=)
c.8604G>A (p.Leu2868=)
c.8574G>A (p.Leu2858=)
c.8529G>A (p.Leu2843=)
c.8124G>A (p.Leu2708=)
c.7482G>A (p.Leu2494=)
c.4992G>A (p.Leu1664=)
 COSMIC
10g.71807676G>CCA470282539CDH23c.8469G>C (p.Leu2823=)
c.2402G>C (n.2402G>C)
c.2066G>C (n.2066G>C)
c.8484G>C (p.Leu2828=)
c.1749G>C (p.Leu583=)
n.2005G>C
c.8664G>C (p.Leu2888=)
c.8598G>C (p.Leu2866=)
c.8661G>C (p.Leu2887=)
c.8658G>C (p.Leu2886=)
c.8604G>C (p.Leu2868=)
c.8574G>C (p.Leu2858=)
c.8529G>C (p.Leu2843=)
c.8124G>C (p.Leu2708=)
c.7482G>C (p.Leu2494=)
c.4992G>C (p.Leu1664=)
 gnomAD v4
10g.71807676G=CA1918886632CDH23c.8469G= (p.Leu2823=)
c.2402G= (n.2402G=)
c.2066G= (n.2066G=)
c.8484G= (p.Leu2828=)
c.1749G= (p.Leu583=)
n.2005G=
c.8664G= (p.Leu2888=)
c.8598G= (p.Leu2866=)
c.8661G= (p.Leu2887=)
c.8658G= (p.Leu2886=)
c.8604G= (p.Leu2868=)
c.8574G= (p.Leu2858=)
c.8529G= (p.Leu2843=)
c.8124G= (p.Leu2708=)
c.7482G= (p.Leu2494=)
c.4992G= (p.Leu1664=)
10g.71807676G>TCA470282540CDH23c.8469G>T (p.Leu2823=)
c.2402G>T (n.2402G>T)
c.2066G>T (n.2066G>T)
c.8484G>T (p.Leu2828=)
c.1749G>T (p.Leu583=)
n.2005G>T
c.8664G>T (p.Leu2888=)
c.8598G>T (p.Leu2866=)
c.8661G>T (p.Leu2887=)
c.8658G>T (p.Leu2886=)
c.8604G>T (p.Leu2868=)
c.8574G>T (p.Leu2858=)
c.8529G>T (p.Leu2843=)
c.8124G>T (p.Leu2708=)
c.7482G>T (p.Leu2494=)
c.4992G>T (p.Leu1664=)
 dbSNP gnomAD v2 gnomAD v4
10g.71807677G>ACA377131604CDH23c.8470G>A (p.Val2824Ile)
c.2403G>A (n.2403G>A)
c.2067G>A (n.2067G>A)
c.8485G>A (p.Val2829Ile)
c.1750G>A (p.Val584Ile)
n.2006G>A
c.8665G>A (p.Val2889Ile)
c.8599G>A (p.Val2867Ile)
c.8662G>A (p.Val2888Ile)
c.8659G>A (p.Val2887Ile)
c.8605G>A (p.Val2869Ile)
c.8575G>A (p.Val2859Ile)
c.8530G>A (p.Val2844Ile)
c.8125G>A (p.Val2709Ile)
c.7483G>A (p.Val2495Ile)
c.4993G>A (p.Val1665Ile)
10g.71807677G>CCA377131602CDH23c.8470G>C (p.Val2824Leu)
c.2403G>C (n.2403G>C)
c.2067G>C (n.2067G>C)
c.8485G>C (p.Val2829Leu)
c.1750G>C (p.Val584Leu)
n.2006G>C
c.8665G>C (p.Val2889Leu)
c.8599G>C (p.Val2867Leu)
c.8662G>C (p.Val2888Leu)
c.8659G>C (p.Val2887Leu)
c.8605G>C (p.Val2869Leu)
c.8575G>C (p.Val2859Leu)
c.8530G>C (p.Val2844Leu)
c.8125G>C (p.Val2709Leu)
c.7483G>C (p.Val2495Leu)
c.4993G>C (p.Val1665Leu)
 COSMIC
10g.71807677G=CA1918886634CDH23c.8470G= (p.Val2824=)
c.2403G= (n.2403G=)
c.2067G= (n.2067G=)
c.8485G= (p.Val2829=)
c.1750G= (p.Val584=)
n.2006G=
c.8665G= (p.Val2889=)
c.8599G= (p.Val2867=)
c.8662G= (p.Val2888=)
c.8659G= (p.Val2887=)
c.8605G= (p.Val2869=)
c.8575G= (p.Val2859=)
c.8530G= (p.Val2844=)
c.8125G= (p.Val2709=)
c.7483G= (p.Val2495=)
c.4993G= (p.Val1665=)
10g.71807677G>TCA377131603CDH23c.8470G>T (p.Val2824Phe)
c.2403G>T (n.2403G>T)
c.2067G>T (n.2067G>T)
c.8485G>T (p.Val2829Phe)
c.1750G>T (p.Val584Phe)
n.2006G>T
c.8665G>T (p.Val2889Phe)
c.8599G>T (p.Val2867Phe)
c.8662G>T (p.Val2888Phe)
c.8659G>T (p.Val2887Phe)
c.8605G>T (p.Val2869Phe)
c.8575G>T (p.Val2859Phe)
c.8530G>T (p.Val2844Phe)
c.8125G>T (p.Val2709Phe)
c.7483G>T (p.Val2495Phe)
c.4993G>T (p.Val1665Phe)
 dbSNP gnomAD v3 gnomAD v4
10g.71807678T>ACA377131605CDH23c.8471T>A (p.Val2824Asp)
c.2404T>A (n.2404T>A)
c.2068T>A (n.2068T>A)
c.8486T>A (p.Val2829Asp)
c.1751T>A (p.Val584Asp)
n.2007T>A
c.8666T>A (p.Val2889Asp)
c.8600T>A (p.Val2867Asp)
c.8663T>A (p.Val2888Asp)
c.8660T>A (p.Val2887Asp)
c.8606T>A (p.Val2869Asp)
c.8576T>A (p.Val2859Asp)
c.8531T>A (p.Val2844Asp)
c.8126T>A (p.Val2709Asp)
c.7484T>A (p.Val2495Asp)
c.4994T>A (p.Val1665Asp)
10g.71807678T>CCA377131606CDH23c.8471T>C (p.Val2824Ala)
c.2404T>C (n.2404T>C)
c.2068T>C (n.2068T>C)
c.8486T>C (p.Val2829Ala)
c.1751T>C (p.Val584Ala)
n.2007T>C
c.8666T>C (p.Val2889Ala)
c.8600T>C (p.Val2867Ala)
c.8663T>C (p.Val2888Ala)
c.8660T>C (p.Val2887Ala)
c.8606T>C (p.Val2869Ala)
c.8576T>C (p.Val2859Ala)
c.8531T>C (p.Val2844Ala)
c.8126T>C (p.Val2709Ala)
c.7484T>C (p.Val2495Ala)
c.4994T>C (p.Val1665Ala)
10g.71807678T>GCA377131607CDH23c.8471T>G (p.Val2824Gly)
c.2404T>G (n.2404T>G)
c.2068T>G (n.2068T>G)
c.8486T>G (p.Val2829Gly)
c.1751T>G (p.Val584Gly)
n.2007T>G
c.8666T>G (p.Val2889Gly)
c.8600T>G (p.Val2867Gly)
c.8663T>G (p.Val2888Gly)
c.8660T>G (p.Val2887Gly)
c.8606T>G (p.Val2869Gly)
c.8576T>G (p.Val2859Gly)
c.8531T>G (p.Val2844Gly)
c.8126T>G (p.Val2709Gly)
c.7484T>G (p.Val2495Gly)
c.4994T>G (p.Val1665Gly)
10g.71807679T>ACA470282546CDH23c.8472T>A (p.Val2824=)
c.2405T>A (n.2405T>A)
c.2069T>A (n.2069T>A)
c.8487T>A (p.Val2829=)
c.1752T>A (p.Val584=)
n.2008T>A
c.8667T>A (p.Val2889=)
c.8601T>A (p.Val2867=)
c.8664T>A (p.Val2888=)
c.8661T>A (p.Val2887=)
c.8607T>A (p.Val2869=)
c.8577T>A (p.Val2859=)
c.8532T>A (p.Val2844=)
c.8127T>A (p.Val2709=)
c.7485T>A (p.Val2495=)
c.4995T>A (p.Val1665=)
10g.71807679T>CCA470282547CDH23c.8472T>C (p.Val2824=)
c.2405T>C (n.2405T>C)
c.2069T>C (n.2069T>C)
c.8487T>C (p.Val2829=)
c.1752T>C (p.Val584=)
n.2008T>C
c.8667T>C (p.Val2889=)
c.8601T>C (p.Val2867=)
c.8664T>C (p.Val2888=)
c.8661T>C (p.Val2887=)
c.8607T>C (p.Val2869=)
c.8577T>C (p.Val2859=)
c.8532T>C (p.Val2844=)
c.8127T>C (p.Val2709=)
c.7485T>C (p.Val2495=)
c.4995T>C (p.Val1665=)
10g.71807679T>GCA470282548CDH23c.8472T>G (p.Val2824=)
c.2405T>G (n.2405T>G)
c.2069T>G (n.2069T>G)
c.8487T>G (p.Val2829=)
c.1752T>G (p.Val584=)
n.2008T>G
c.8667T>G (p.Val2889=)
c.8601T>G (p.Val2867=)
c.8664T>G (p.Val2888=)
c.8661T>G (p.Val2887=)
c.8607T>G (p.Val2869=)
c.8577T>G (p.Val2859=)
c.8532T>G (p.Val2844=)
c.8127T>G (p.Val2709=)
c.7485T>G (p.Val2495=)
c.4995T>G (p.Val1665=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71807679T=CA1918886636CDH23c.8472T= (p.Val2824=)
c.2405T= (n.2405T=)
c.2069T= (n.2069T=)
c.8487T= (p.Val2829=)
c.1752T= (p.Val584=)
n.2008T=
c.8667T= (p.Val2889=)
c.8601T= (p.Val2867=)
c.8664T= (p.Val2888=)
c.8661T= (p.Val2887=)
c.8607T= (p.Val2869=)
c.8577T= (p.Val2859=)
c.8532T= (p.Val2844=)
c.8127T= (p.Val2709=)
c.7485T= (p.Val2495=)
c.4995T= (p.Val1665=)
10g.71807680G>ACA377131610CDH23c.8473G>A (p.Ala2825Thr)
c.2406G>A (n.2406G>A)
c.2070G>A (n.2070G>A)
c.8488G>A (p.Ala2830Thr)
c.1753G>A (p.Ala585Thr)
n.2009G>A
c.8668G>A (p.Ala2890Thr)
c.8602G>A (p.Ala2868Thr)
c.8665G>A (p.Ala2889Thr)
c.8662G>A (p.Ala2888Thr)
c.8608G>A (p.Ala2870Thr)
c.8578G>A (p.Ala2860Thr)
c.8533G>A (p.Ala2845Thr)
c.8128G>A (p.Ala2710Thr)
c.7486G>A (p.Ala2496Thr)
c.4996G>A (p.Ala1666Thr)
 dbSNP
10g.71807680G>CCA377131609CDH23c.8473G>C (p.Ala2825Pro)
c.2406G>C (n.2406G>C)
c.2070G>C (n.2070G>C)
c.8488G>C (p.Ala2830Pro)
c.1753G>C (p.Ala585Pro)
n.2009G>C
c.8668G>C (p.Ala2890Pro)
c.8602G>C (p.Ala2868Pro)
c.8665G>C (p.Ala2889Pro)
c.8662G>C (p.Ala2888Pro)
c.8608G>C (p.Ala2870Pro)
c.8578G>C (p.Ala2860Pro)
c.8533G>C (p.Ala2845Pro)
c.8128G>C (p.Ala2710Pro)
c.7486G>C (p.Ala2496Pro)
c.4996G>C (p.Ala1666Pro)
 dbSNP
10g.71807680G>TCA377131608CDH23c.8473G>T (p.Ala2825Ser)
c.2406G>T (n.2406G>T)
c.2070G>T (n.2070G>T)
c.8488G>T (p.Ala2830Ser)
c.1753G>T (p.Ala585Ser)
n.2009G>T
c.8668G>T (p.Ala2890Ser)
c.8602G>T (p.Ala2868Ser)
c.8665G>T (p.Ala2889Ser)
c.8662G>T (p.Ala2888Ser)
c.8608G>T (p.Ala2870Ser)
c.8578G>T (p.Ala2860Ser)
c.8533G>T (p.Ala2845Ser)
c.8128G>T (p.Ala2710Ser)
c.7486G>T (p.Ala2496Ser)
c.4996G>T (p.Ala1666Ser)
10g.71807681C>ACA377131611CDH23c.8474C>A (p.Ala2825Asp)
c.2407C>A (n.2407C>A)
c.2071C>A (n.2071C>A)
c.8489C>A (p.Ala2830Asp)
c.1754C>A (p.Ala585Asp)
n.2010C>A
c.8669C>A (p.Ala2890Asp)
c.8603C>A (p.Ala2868Asp)
c.8666C>A (p.Ala2889Asp)
c.8663C>A (p.Ala2888Asp)
c.8609C>A (p.Ala2870Asp)
c.8579C>A (p.Ala2860Asp)
c.8534C>A (p.Ala2845Asp)
c.8129C>A (p.Ala2710Asp)
c.7487C>A (p.Ala2496Asp)
c.4997C>A (p.Ala1666Asp)
10g.71807681C>GCA377131612CDH23c.8474C>G (p.Ala2825Gly)
c.2407C>G (n.2407C>G)
c.2071C>G (n.2071C>G)
c.8489C>G (p.Ala2830Gly)
c.1754C>G (p.Ala585Gly)
n.2010C>G
c.8669C>G (p.Ala2890Gly)
c.8603C>G (p.Ala2868Gly)
c.8666C>G (p.Ala2889Gly)
c.8663C>G (p.Ala2888Gly)
c.8609C>G (p.Ala2870Gly)
c.8579C>G (p.Ala2860Gly)
c.8534C>G (p.Ala2845Gly)
c.8129C>G (p.Ala2710Gly)
c.7487C>G (p.Ala2496Gly)
c.4997C>G (p.Ala1666Gly)
10g.71807681C>TCA377131613CDH23c.8474C>T (p.Ala2825Val)
c.2407C>T (n.2407C>T)
c.2071C>T (n.2071C>T)
c.8489C>T (p.Ala2830Val)
c.1754C>T (p.Ala585Val)
n.2010C>T
c.8669C>T (p.Ala2890Val)
c.8603C>T (p.Ala2868Val)
c.8666C>T (p.Ala2889Val)
c.8663C>T (p.Ala2888Val)
c.8609C>T (p.Ala2870Val)
c.8579C>T (p.Ala2860Val)
c.8534C>T (p.Ala2845Val)
c.8129C>T (p.Ala2710Val)
c.7487C>T (p.Ala2496Val)
c.4997C>T (p.Ala1666Val)
 dbSNP
10g.71807682T>ACA470282552CDH23c.8475T>A (p.Ala2825=)
c.2408T>A (n.2408T>A)
c.2072T>A (n.2072T>A)
c.8490T>A (p.Ala2830=)
c.1755T>A (p.Ala585=)
n.2011T>A
c.8670T>A (p.Ala2890=)
c.8604T>A (p.Ala2868=)
c.8667T>A (p.Ala2889=)
c.8664T>A (p.Ala2888=)
c.8610T>A (p.Ala2870=)
c.8580T>A (p.Ala2860=)
c.8535T>A (p.Ala2845=)
c.8130T>A (p.Ala2710=)
c.7488T>A (p.Ala2496=)
c.4998T>A (p.Ala1666=)
10g.71807682T>CCA470282553CDH23c.8475T>C (p.Ala2825=)
c.2408T>C (n.2408T>C)
c.2072T>C (n.2072T>C)
c.8490T>C (p.Ala2830=)
c.1755T>C (p.Ala585=)
n.2011T>C
c.8670T>C (p.Ala2890=)
c.8604T>C (p.Ala2868=)
c.8667T>C (p.Ala2889=)
c.8664T>C (p.Ala2888=)
c.8610T>C (p.Ala2870=)
c.8580T>C (p.Ala2860=)
c.8535T>C (p.Ala2845=)
c.8130T>C (p.Ala2710=)
c.7488T>C (p.Ala2496=)
c.4998T>C (p.Ala1666=)
10g.71807682T>GCA470282554CDH23c.8475T>G (p.Ala2825=)
c.2408T>G (n.2408T>G)
c.2072T>G (n.2072T>G)
c.8490T>G (p.Ala2830=)
c.1755T>G (p.Ala585=)
n.2011T>G
c.8670T>G (p.Ala2890=)
c.8604T>G (p.Ala2868=)
c.8667T>G (p.Ala2889=)
c.8664T>G (p.Ala2888=)
c.8610T>G (p.Ala2870=)
c.8580T>G (p.Ala2860=)
c.8535T>G (p.Ala2845=)
c.8130T>G (p.Ala2710=)
c.7488T>G (p.Ala2496=)
c.4998T>G (p.Ala1666=)
10g.71807683G>ACA377131614CDH23c.8476G>A (p.Asp2826Asn)
c.2409G>A (n.2409G>A)
c.2073G>A (n.2073G>A)
c.8491G>A (p.Asp2831Asn)
c.1756G>A (p.Asp586Asn)
n.2012G>A
c.8671G>A (p.Asp2891Asn)
c.8605G>A (p.Asp2869Asn)
c.8668G>A (p.Asp2890Asn)
c.8665G>A (p.Asp2889Asn)
c.8611G>A (p.Asp2871Asn)
c.8581G>A (p.Asp2861Asn)
c.8536G>A (p.Asp2846Asn)
c.8131G>A (p.Asp2711Asn)
c.7489G>A (p.Asp2497Asn)
c.4999G>A (p.Asp1667Asn)
10g.71807683G>CCA377131615CDH23c.8476G>C (p.Asp2826His)
c.2409G>C (n.2409G>C)
c.2073G>C (n.2073G>C)
c.8491G>C (p.Asp2831His)
c.1756G>C (p.Asp586His)
n.2012G>C
c.8671G>C (p.Asp2891His)
c.8605G>C (p.Asp2869His)
c.8668G>C (p.Asp2890His)
c.8665G>C (p.Asp2889His)
c.8611G>C (p.Asp2871His)
c.8581G>C (p.Asp2861His)
c.8536G>C (p.Asp2846His)
c.8131G>C (p.Asp2711His)
c.7489G>C (p.Asp2497His)
c.4999G>C (p.Asp1667His)
10g.71807683G>TCA377131616CDH23c.8476G>T (p.Asp2826Tyr)
c.2409G>T (n.2409G>T)
c.2073G>T (n.2073G>T)
c.8491G>T (p.Asp2831Tyr)
c.1756G>T (p.Asp586Tyr)
n.2012G>T
c.8671G>T (p.Asp2891Tyr)
c.8605G>T (p.Asp2869Tyr)
c.8668G>T (p.Asp2890Tyr)
c.8665G>T (p.Asp2889Tyr)
c.8611G>T (p.Asp2871Tyr)
c.8581G>T (p.Asp2861Tyr)
c.8536G>T (p.Asp2846Tyr)
c.8131G>T (p.Asp2711Tyr)
c.7489G>T (p.Asp2497Tyr)
c.4999G>T (p.Asp1667Tyr)
10g.71807684A>CCA377131617CDH23c.8477A>C (p.Asp2826Ala)
c.2410A>C (n.2410A>C)
c.2074A>C (n.2074A>C)
c.8492A>C (p.Asp2831Ala)
c.1757A>C (p.Asp586Ala)
n.2013A>C
c.8672A>C (p.Asp2891Ala)
c.8606A>C (p.Asp2869Ala)
c.8669A>C (p.Asp2890Ala)
c.8666A>C (p.Asp2889Ala)
c.8612A>C (p.Asp2871Ala)
c.8582A>C (p.Asp2861Ala)
c.8537A>C (p.Asp2846Ala)
c.8132A>C (p.Asp2711Ala)
c.7490A>C (p.Asp2497Ala)
c.5000A>C (p.Asp1667Ala)
10g.71807684A>GCA377131619CDH23c.8477A>G (p.Asp2826Gly)
c.2410A>G (n.2410A>G)
c.2074A>G (n.2074A>G)
c.8492A>G (p.Asp2831Gly)
c.1757A>G (p.Asp586Gly)
n.2013A>G
c.8672A>G (p.Asp2891Gly)
c.8606A>G (p.Asp2869Gly)
c.8669A>G (p.Asp2890Gly)
c.8666A>G (p.Asp2889Gly)
c.8612A>G (p.Asp2871Gly)
c.8582A>G (p.Asp2861Gly)
c.8537A>G (p.Asp2846Gly)
c.8132A>G (p.Asp2711Gly)
c.7490A>G (p.Asp2497Gly)
c.5000A>G (p.Asp1667Gly)
10g.71807684A>TCA377131618CDH23c.8477A>T (p.Asp2826Val)
c.2410A>T (n.2410A>T)
c.2074A>T (n.2074A>T)
c.8492A>T (p.Asp2831Val)
c.1757A>T (p.Asp586Val)
n.2013A>T
c.8672A>T (p.Asp2891Val)
c.8606A>T (p.Asp2869Val)
c.8669A>T (p.Asp2890Val)
c.8666A>T (p.Asp2889Val)
c.8612A>T (p.Asp2871Val)
c.8582A>T (p.Asp2861Val)
c.8537A>T (p.Asp2846Val)
c.8132A>T (p.Asp2711Val)
c.7490A>T (p.Asp2497Val)
c.5000A>T (p.Asp1667Val)
10g.71807685C>ACA377131620CDH23c.8478C>A (p.Asp2826Glu)
c.2411C>A (n.2411C>A)
c.2075C>A (n.2075C>A)
c.8493C>A (p.Asp2831Glu)
c.1758C>A (p.Asp586Glu)
n.2014C>A
c.8673C>A (p.Asp2891Glu)
c.8607C>A (p.Asp2869Glu)
c.8670C>A (p.Asp2890Glu)
c.8667C>A (p.Asp2889Glu)
c.8613C>A (p.Asp2871Glu)
c.8583C>A (p.Asp2861Glu)
c.8538C>A (p.Asp2846Glu)
c.8133C>A (p.Asp2711Glu)
c.7491C>A (p.Asp2497Glu)
c.5001C>A (p.Asp1667Glu)
 dbSNP
10g.71807685C>GCA377131621CDH23c.8478C>G (p.Asp2826Glu)
c.2411C>G (n.2411C>G)
c.2075C>G (n.2075C>G)
c.8493C>G (p.Asp2831Glu)
c.1758C>G (p.Asp586Glu)
n.2014C>G
c.8673C>G (p.Asp2891Glu)
c.8607C>G (p.Asp2869Glu)
c.8670C>G (p.Asp2890Glu)
c.8667C>G (p.Asp2889Glu)
c.8613C>G (p.Asp2871Glu)
c.8583C>G (p.Asp2861Glu)
c.8538C>G (p.Asp2846Glu)
c.8133C>G (p.Asp2711Glu)
c.7491C>G (p.Asp2497Glu)
c.5001C>G (p.Asp1667Glu)
10g.71807685C>TCA470282556CDH23c.8478C>T (p.Asp2826=)
c.2411C>T (n.2411C>T)
c.2075C>T (n.2075C>T)
c.8493C>T (p.Asp2831=)
c.1758C>T (p.Asp586=)
n.2014C>T
c.8673C>T (p.Asp2891=)
c.8607C>T (p.Asp2869=)
c.8670C>T (p.Asp2890=)
c.8667C>T (p.Asp2889=)
c.8613C>T (p.Asp2871=)
c.8583C>T (p.Asp2861=)
c.8538C>T (p.Asp2846=)
c.8133C>T (p.Asp2711=)
c.7491C>T (p.Asp2497=)
c.5001C>T (p.Asp1667=)
 gnomAD v4
10g.71807686C>ACA377131622CDH23c.8479C>A (p.Leu2827Ile)
c.2412C>A (n.2412C>A)
c.2076C>A (n.2076C>A)
c.8494C>A (p.Leu2832Ile)
c.1759C>A (p.Leu587Ile)
n.2015C>A
c.8674C>A (p.Leu2892Ile)
c.8608C>A (p.Leu2870Ile)
c.8671C>A (p.Leu2891Ile)
c.8668C>A (p.Leu2890Ile)
c.8614C>A (p.Leu2872Ile)
c.8584C>A (p.Leu2862Ile)
c.8539C>A (p.Leu2847Ile)
c.8134C>A (p.Leu2712Ile)
c.7492C>A (p.Leu2498Ile)
c.5002C>A (p.Leu1668Ile)
10g.71807686C=CA1918886640CDH23c.8479C= (p.Leu2827=)
c.2412C= (n.2412C=)
c.2076C= (n.2076C=)
c.8494C= (p.Leu2832=)
c.1759C= (p.Leu587=)
n.2015C=
c.8674C= (p.Leu2892=)
c.8608C= (p.Leu2870=)
c.8671C= (p.Leu2891=)
c.8668C= (p.Leu2890=)
c.8614C= (p.Leu2872=)
c.8584C= (p.Leu2862=)
c.8539C= (p.Leu2847=)
c.8134C= (p.Leu2712=)
c.7492C= (p.Leu2498=)
c.5002C= (p.Leu1668=)
10g.71807686C>GCA377131623CDH23c.8479C>G (p.Leu2827Val)
c.2412C>G (n.2412C>G)
c.2076C>G (n.2076C>G)
c.8494C>G (p.Leu2832Val)
c.1759C>G (p.Leu587Val)
n.2015C>G
c.8674C>G (p.Leu2892Val)
c.8608C>G (p.Leu2870Val)
c.8671C>G (p.Leu2891Val)
c.8668C>G (p.Leu2890Val)
c.8614C>G (p.Leu2872Val)
c.8584C>G (p.Leu2862Val)
c.8539C>G (p.Leu2847Val)
c.8134C>G (p.Leu2712Val)
c.7492C>G (p.Leu2498Val)
c.5002C>G (p.Leu1668Val)
10g.71807686C>TCA377131624CDH23c.8479C>T (p.Leu2827Phe)
c.2412C>T (n.2412C>T)
c.2076C>T (n.2076C>T)
c.8494C>T (p.Leu2832Phe)
c.1759C>T (p.Leu587Phe)
n.2015C>T
c.8674C>T (p.Leu2892Phe)
c.8608C>T (p.Leu2870Phe)
c.8671C>T (p.Leu2891Phe)
c.8668C>T (p.Leu2890Phe)
c.8614C>T (p.Leu2872Phe)
c.8584C>T (p.Leu2862Phe)
c.8539C>T (p.Leu2847Phe)
c.8134C>T (p.Leu2712Phe)
c.7492C>T (p.Leu2498Phe)
c.5002C>T (p.Leu1668Phe)
 ClinVar dbSNP
10g.71807687_71807688delCA2695212121CDH23c.8480_8481del (p.Leu2827HisfsTer23)
c.2413_2414del (n.2413_2414del)
c.2077_2078del (n.2077_2078del)
c.8495_8496del (p.Leu2832HisfsTer23)
c.1760_1761del (p.Leu587HisfsTer23)
n.2016_2017del
c.8675_8676del (p.Leu2892HisfsTer23)
c.8609_8610del (p.Leu2870HisfsTer23)
c.8672_8673del (p.Leu2891HisfsTer23)
c.8669_8670del (p.Leu2890HisfsTer23)
c.8615_8616del (p.Leu2872HisfsTer23)
c.8585_8586del (p.Leu2862HisfsTer23)
c.8540_8541del (p.Leu2847HisfsTer23)
c.8135_8136del (p.Leu2712HisfsTer23)
c.7493_7494del (p.Leu2498HisfsTer23)
c.5003_5004del (p.Leu1668HisfsTer23)
10g.71807687T>ACA377131625CDH23c.8480T>A (p.Leu2827His)
c.2413T>A (n.2413T>A)
c.2077T>A (n.2077T>A)
c.8495T>A (p.Leu2832His)
c.1760T>A (p.Leu587His)
n.2016T>A
c.8675T>A (p.Leu2892His)
c.8609T>A (p.Leu2870His)
c.8672T>A (p.Leu2891His)
c.8669T>A (p.Leu2890His)
c.8615T>A (p.Leu2872His)
c.8585T>A (p.Leu2862His)
c.8540T>A (p.Leu2847His)
c.8135T>A (p.Leu2712His)
c.7493T>A (p.Leu2498His)
c.5003T>A (p.Leu1668His)
10g.71807687T>CCA377131626CDH23c.8480T>C (p.Leu2827Pro)
c.2413T>C (n.2413T>C)
c.2077T>C (n.2077T>C)
c.8495T>C (p.Leu2832Pro)
c.1760T>C (p.Leu587Pro)
n.2016T>C
c.8675T>C (p.Leu2892Pro)
c.8609T>C (p.Leu2870Pro)
c.8672T>C (p.Leu2891Pro)
c.8669T>C (p.Leu2890Pro)
c.8615T>C (p.Leu2872Pro)
c.8585T>C (p.Leu2862Pro)
c.8540T>C (p.Leu2847Pro)
c.8135T>C (p.Leu2712Pro)
c.7493T>C (p.Leu2498Pro)
c.5003T>C (p.Leu1668Pro)
 dbSNP
10g.71807687T>GCA377131627CDH23c.8480T>G (p.Leu2827Arg)
c.2413T>G (n.2413T>G)
c.2077T>G (n.2077T>G)
c.8495T>G (p.Leu2832Arg)
c.1760T>G (p.Leu587Arg)
n.2016T>G
c.8675T>G (p.Leu2892Arg)
c.8609T>G (p.Leu2870Arg)
c.8672T>G (p.Leu2891Arg)
c.8669T>G (p.Leu2890Arg)
c.8615T>G (p.Leu2872Arg)
c.8585T>G (p.Leu2862Arg)
c.8540T>G (p.Leu2847Arg)
c.8135T>G (p.Leu2712Arg)
c.7493T>G (p.Leu2498Arg)
c.5003T>G (p.Leu1668Arg)
10g.71807688C>ACA470282560CDH23c.8481C>A (p.Leu2827=)
c.2414C>A (n.2414C>A)
c.2078C>A (n.2078C>A)
c.8496C>A (p.Leu2832=)
c.1761C>A (p.Leu587=)
n.2017C>A
c.8676C>A (p.Leu2892=)
c.8610C>A (p.Leu2870=)
c.8673C>A (p.Leu2891=)
c.8670C>A (p.Leu2890=)
c.8616C>A (p.Leu2872=)
c.8586C>A (p.Leu2862=)
c.8541C>A (p.Leu2847=)
c.8136C>A (p.Leu2712=)
c.7494C>A (p.Leu2498=)
c.5004C>A (p.Leu1668=)
10g.71807688C>GCA470282561CDH23c.8481C>G (p.Leu2827=)
c.2414C>G (n.2414C>G)
c.2078C>G (n.2078C>G)
c.8496C>G (p.Leu2832=)
c.1761C>G (p.Leu587=)
n.2017C>G
c.8676C>G (p.Leu2892=)
c.8610C>G (p.Leu2870=)
c.8673C>G (p.Leu2891=)
c.8670C>G (p.Leu2890=)
c.8616C>G (p.Leu2872=)
c.8586C>G (p.Leu2862=)
c.8541C>G (p.Leu2847=)
c.8136C>G (p.Leu2712=)
c.7494C>G (p.Leu2498=)
c.5004C>G (p.Leu1668=)
10g.71807688C>TCA470282562CDH23c.8481C>T (p.Leu2827=)
c.2414C>T (n.2414C>T)
c.2078C>T (n.2078C>T)
c.8496C>T (p.Leu2832=)
c.1761C>T (p.Leu587=)
n.2017C>T
c.8676C>T (p.Leu2892=)
c.8610C>T (p.Leu2870=)
c.8673C>T (p.Leu2891=)
c.8670C>T (p.Leu2890=)
c.8616C>T (p.Leu2872=)
c.8586C>T (p.Leu2862=)
c.8541C>T (p.Leu2847=)
c.8136C>T (p.Leu2712=)
c.7494C>T (p.Leu2498=)
c.5004C>T (p.Leu1668=)
 dbSNP gnomAD v4
10g.71807689A>CCA377131628CDH23c.8482A>C (p.Thr2828Pro)
c.2415A>C (n.2415A>C)
c.2079A>C (n.2079A>C)
c.8497A>C (p.Thr2833Pro)
c.1762A>C (p.Thr588Pro)
n.2018A>C
c.8677A>C (p.Thr2893Pro)
c.8611A>C (p.Thr2871Pro)
c.8674A>C (p.Thr2892Pro)
c.8671A>C (p.Thr2891Pro)
c.8617A>C (p.Thr2873Pro)
c.8587A>C (p.Thr2863Pro)
c.8542A>C (p.Thr2848Pro)
c.8137A>C (p.Thr2713Pro)
c.7495A>C (p.Thr2499Pro)
c.5005A>C (p.Thr1669Pro)
10g.71807689A>GCA377131629CDH23c.8482A>G (p.Thr2828Ala)
c.2415A>G (n.2415A>G)
c.2079A>G (n.2079A>G)
c.8497A>G (p.Thr2833Ala)
c.1762A>G (p.Thr588Ala)
n.2018A>G
c.8677A>G (p.Thr2893Ala)
c.8611A>G (p.Thr2871Ala)
c.8674A>G (p.Thr2892Ala)
c.8671A>G (p.Thr2891Ala)
c.8617A>G (p.Thr2873Ala)
c.8587A>G (p.Thr2863Ala)
c.8542A>G (p.Thr2848Ala)
c.8137A>G (p.Thr2713Ala)
c.7495A>G (p.Thr2499Ala)
c.5005A>G (p.Thr1669Ala)
10g.71807689A>TCA377131630CDH23c.8482A>T (p.Thr2828Ser)
c.2415A>T (n.2415A>T)
c.2079A>T (n.2079A>T)
c.8497A>T (p.Thr2833Ser)
c.1762A>T (p.Thr588Ser)
n.2018A>T
c.8677A>T (p.Thr2893Ser)
c.8611A>T (p.Thr2871Ser)
c.8674A>T (p.Thr2892Ser)
c.8671A>T (p.Thr2891Ser)
c.8617A>T (p.Thr2873Ser)
c.8587A>T (p.Thr2863Ser)
c.8542A>T (p.Thr2848Ser)
c.8137A>T (p.Thr2713Ser)
c.7495A>T (p.Thr2499Ser)
c.5005A>T (p.Thr1669Ser)
10g.71807690C>ACA377131633CDH23c.8483C>A (p.Thr2828Lys)
c.2416C>A (n.2416C>A)
c.2080C>A (n.2080C>A)
c.8498C>A (p.Thr2833Lys)
c.1763C>A (p.Thr588Lys)
n.2019C>A
c.8678C>A (p.Thr2893Lys)
c.8612C>A (p.Thr2871Lys)
c.8675C>A (p.Thr2892Lys)
c.8672C>A (p.Thr2891Lys)
c.8618C>A (p.Thr2873Lys)
c.8588C>A (p.Thr2863Lys)
c.8543C>A (p.Thr2848Lys)
c.8138C>A (p.Thr2713Lys)
c.7496C>A (p.Thr2499Lys)
c.5006C>A (p.Thr1669Lys)
10g.71807690C>GCA377131632CDH23c.8483C>G (p.Thr2828Arg)
c.2416C>G (n.2416C>G)
c.2080C>G (n.2080C>G)
c.8498C>G (p.Thr2833Arg)
c.1763C>G (p.Thr588Arg)
n.2019C>G
c.8678C>G (p.Thr2893Arg)
c.8612C>G (p.Thr2871Arg)
c.8675C>G (p.Thr2892Arg)
c.8672C>G (p.Thr2891Arg)
c.8618C>G (p.Thr2873Arg)
c.8588C>G (p.Thr2863Arg)
c.8543C>G (p.Thr2848Arg)
c.8138C>G (p.Thr2713Arg)
c.7496C>G (p.Thr2499Arg)
c.5006C>G (p.Thr1669Arg)
10g.71807690C>TCA377131631CDH23c.8483C>T (p.Thr2828Ile)
c.2416C>T (n.2416C>T)
c.2080C>T (n.2080C>T)
c.8498C>T (p.Thr2833Ile)
c.1763C>T (p.Thr588Ile)
n.2019C>T
c.8678C>T (p.Thr2893Ile)
c.8612C>T (p.Thr2871Ile)
c.8675C>T (p.Thr2892Ile)
c.8672C>T (p.Thr2891Ile)
c.8618C>T (p.Thr2873Ile)
c.8588C>T (p.Thr2863Ile)
c.8543C>T (p.Thr2848Ile)
c.8138C>T (p.Thr2713Ile)
c.7496C>T (p.Thr2499Ile)
c.5006C>T (p.Thr1669Ile)
 COSMIC
10g.71807691A>CCA470282566CDH23c.8484A>C (p.Thr2828=)
c.2417A>C (n.2417A>C)
c.2081A>C (n.2081A>C)
c.8499A>C (p.Thr2833=)
c.1764A>C (p.Thr588=)
n.2020A>C
c.8679A>C (p.Thr2893=)
c.8613A>C (p.Thr2871=)
c.8676A>C (p.Thr2892=)
c.8673A>C (p.Thr2891=)
c.8619A>C (p.Thr2873=)
c.8589A>C (p.Thr2863=)
c.8544A>C (p.Thr2848=)
c.8139A>C (p.Thr2713=)
c.7497A>C (p.Thr2499=)
c.5007A>C (p.Thr1669=)
10g.71807691A>GCA470282567CDH23c.8484A>G (p.Thr2828=)
c.2417A>G (n.2417A>G)
c.2081A>G (n.2081A>G)
c.8499A>G (p.Thr2833=)
c.1764A>G (p.Thr588=)
n.2020A>G
c.8679A>G (p.Thr2893=)
c.8613A>G (p.Thr2871=)
c.8676A>G (p.Thr2892=)
c.8673A>G (p.Thr2891=)
c.8619A>G (p.Thr2873=)
c.8589A>G (p.Thr2863=)
c.8544A>G (p.Thr2848=)
c.8139A>G (p.Thr2713=)
c.7497A>G (p.Thr2499=)
c.5007A>G (p.Thr1669=)
 dbSNP
10g.71807691A>TCA470282568CDH23c.8484A>T (p.Thr2828=)
c.2417A>T (n.2417A>T)
c.2081A>T (n.2081A>T)
c.8499A>T (p.Thr2833=)
c.1764A>T (p.Thr588=)
n.2020A>T
c.8679A>T (p.Thr2893=)
c.8613A>T (p.Thr2871=)
c.8676A>T (p.Thr2892=)
c.8673A>T (p.Thr2891=)
c.8619A>T (p.Thr2873=)
c.8589A>T (p.Thr2863=)
c.8544A>T (p.Thr2848=)
c.8139A>T (p.Thr2713=)
c.7497A>T (p.Thr2499=)
c.5007A>T (p.Thr1669=)
10g.71807692C>ACA377131634CDH23c.8485C>A (p.Leu2829Met)
c.2418C>A (n.2418C>A)
c.2082C>A (n.2082C>A)
c.8500C>A (p.Leu2834Met)
c.1765C>A (p.Leu589Met)
n.2021C>A
c.8680C>A (p.Leu2894Met)
c.8614C>A (p.Leu2872Met)
c.8677C>A (p.Leu2893Met)
c.8674C>A (p.Leu2892Met)
c.8620C>A (p.Leu2874Met)
c.8590C>A (p.Leu2864Met)
c.8545C>A (p.Leu2849Met)
c.8140C>A (p.Leu2714Met)
c.7498C>A (p.Leu2500Met)
c.5008C>A (p.Leu1670Met)
 dbSNP gnomAD v2 gnomAD v4
10g.71807692C=CA1918886656CDH23c.8485C= (p.Leu2829=)
c.2418C= (n.2418C=)
c.2082C= (n.2082C=)
c.8500C= (p.Leu2834=)
c.1765C= (p.Leu589=)
n.2021C=
c.8680C= (p.Leu2894=)
c.8614C= (p.Leu2872=)
c.8677C= (p.Leu2893=)
c.8674C= (p.Leu2892=)
c.8620C= (p.Leu2874=)
c.8590C= (p.Leu2864=)
c.8545C= (p.Leu2849=)
c.8140C= (p.Leu2714=)
c.7498C= (p.Leu2500=)
c.5008C= (p.Leu1670=)
10g.71807692C>GCA377131635CDH23c.8485C>G (p.Leu2829Val)
c.2418C>G (n.2418C>G)
c.2082C>G (n.2082C>G)
c.8500C>G (p.Leu2834Val)
c.1765C>G (p.Leu589Val)
n.2021C>G
c.8680C>G (p.Leu2894Val)
c.8614C>G (p.Leu2872Val)
c.8677C>G (p.Leu2893Val)
c.8674C>G (p.Leu2892Val)
c.8620C>G (p.Leu2874Val)
c.8590C>G (p.Leu2864Val)
c.8545C>G (p.Leu2849Val)
c.8140C>G (p.Leu2714Val)
c.7498C>G (p.Leu2500Val)
c.5008C>G (p.Leu1670Val)
 dbSNP COSMIC
10g.71807692C>TCA470282569CDH23c.8485C>T (p.Leu2829=)
c.2418C>T (n.2418C>T)
c.2082C>T (n.2082C>T)
c.8500C>T (p.Leu2834=)
c.1765C>T (p.Leu589=)
n.2021C>T
c.8680C>T (p.Leu2894=)
c.8614C>T (p.Leu2872=)
c.8677C>T (p.Leu2893=)
c.8674C>T (p.Leu2892=)
c.8620C>T (p.Leu2874=)
c.8590C>T (p.Leu2864=)
c.8545C>T (p.Leu2849=)
c.8140C>T (p.Leu2714=)
c.7498C>T (p.Leu2500=)
c.5008C>T (p.Leu1670=)
 ClinVar dbSNP gnomAD v4 COSMIC
10g.71807693T>ACA377131636CDH23c.8486T>A (p.Leu2829Gln)
c.2419T>A (n.2419T>A)
c.2083T>A (n.2083T>A)
c.8501T>A (p.Leu2834Gln)
c.1766T>A (p.Leu589Gln)
n.2022T>A
c.8681T>A (p.Leu2894Gln)
c.8615T>A (p.Leu2872Gln)
c.8678T>A (p.Leu2893Gln)
c.8675T>A (p.Leu2892Gln)
c.8621T>A (p.Leu2874Gln)
c.8591T>A (p.Leu2864Gln)
c.8546T>A (p.Leu2849Gln)
c.8141T>A (p.Leu2714Gln)
c.7499T>A (p.Leu2500Gln)
c.5009T>A (p.Leu1670Gln)
10g.71807693T>CCA377131638CDH23c.8486T>C (p.Leu2829Pro)
c.2419T>C (n.2419T>C)
c.2083T>C (n.2083T>C)
c.8501T>C (p.Leu2834Pro)
c.1766T>C (p.Leu589Pro)
n.2022T>C
c.8681T>C (p.Leu2894Pro)
c.8615T>C (p.Leu2872Pro)
c.8678T>C (p.Leu2893Pro)
c.8675T>C (p.Leu2892Pro)
c.8621T>C (p.Leu2874Pro)
c.8591T>C (p.Leu2864Pro)
c.8546T>C (p.Leu2849Pro)
c.8141T>C (p.Leu2714Pro)
c.7499T>C (p.Leu2500Pro)
c.5009T>C (p.Leu1670Pro)
10g.71807693T>GCA377131637CDH23c.8486T>G (p.Leu2829Arg)
c.2419T>G (n.2419T>G)
c.2083T>G (n.2083T>G)
c.8501T>G (p.Leu2834Arg)
c.1766T>G (p.Leu589Arg)
n.2022T>G
c.8681T>G (p.Leu2894Arg)
c.8615T>G (p.Leu2872Arg)
c.8678T>G (p.Leu2893Arg)
c.8675T>G (p.Leu2892Arg)
c.8621T>G (p.Leu2874Arg)
c.8591T>G (p.Leu2864Arg)
c.8546T>G (p.Leu2849Arg)
c.8141T>G (p.Leu2714Arg)
c.7499T>G (p.Leu2500Arg)
c.5009T>G (p.Leu1670Arg)
10g.71807694G>ACA470282573CDH23c.8487G>A (p.Leu2829=)
c.2420G>A (n.2420G>A)
c.2084G>A (n.2084G>A)
c.8502G>A (p.Leu2834=)
c.1767G>A (p.Leu589=)
n.2023G>A
c.8682G>A (p.Leu2894=)
c.8616G>A (p.Leu2872=)
c.8679G>A (p.Leu2893=)
c.8676G>A (p.Leu2892=)
c.8622G>A (p.Leu2874=)
c.8592G>A (p.Leu2864=)
c.8547G>A (p.Leu2849=)
c.8142G>A (p.Leu2714=)
c.7500G>A (p.Leu2500=)
c.5010G>A (p.Leu1670=)
 dbSNP
10g.71807694G>CCA470282574CDH23c.8487G>C (p.Leu2829=)
c.2420G>C (n.2420G>C)
c.2084G>C (n.2084G>C)
c.8502G>C (p.Leu2834=)
c.1767G>C (p.Leu589=)
n.2023G>C
c.8682G>C (p.Leu2894=)
c.8616G>C (p.Leu2872=)
c.8679G>C (p.Leu2893=)
c.8676G>C (p.Leu2892=)
c.8622G>C (p.Leu2874=)
c.8592G>C (p.Leu2864=)
c.8547G>C (p.Leu2849=)
c.8142G>C (p.Leu2714=)
c.7500G>C (p.Leu2500=)
c.5010G>C (p.Leu1670=)
10g.71807694G>TCA470282575CDH23c.8487G>T (p.Leu2829=)
c.2420G>T (n.2420G>T)
c.2084G>T (n.2084G>T)
c.8502G>T (p.Leu2834=)
c.1767G>T (p.Leu589=)
n.2023G>T
c.8682G>T (p.Leu2894=)
c.8616G>T (p.Leu2872=)
c.8679G>T (p.Leu2893=)
c.8676G>T (p.Leu2892=)
c.8622G>T (p.Leu2874=)
c.8592G>T (p.Leu2864=)
c.8547G>T (p.Leu2849=)
c.8142G>T (p.Leu2714=)
c.7500G>T (p.Leu2500=)
c.5010G>T (p.Leu1670=)
10g.71807695C>ACA377131639CDH23c.8488C>A (p.Gln2830Lys)
c.2421C>A (n.2421C>A)
c.2085C>A (n.2085C>A)
c.8503C>A (p.Gln2835Lys)
c.1768C>A (p.Gln590Lys)
n.2024C>A
c.8683C>A (p.Gln2895Lys)
c.8617C>A (p.Gln2873Lys)
c.8680C>A (p.Gln2894Lys)
c.8677C>A (p.Gln2893Lys)
c.8623C>A (p.Gln2875Lys)
c.8593C>A (p.Gln2865Lys)
c.8548C>A (p.Gln2850Lys)
c.8143C>A (p.Gln2715Lys)
c.7501C>A (p.Gln2501Lys)
c.5011C>A (p.Gln1671Lys)
 dbSNP gnomAD v2 gnomAD v4
10g.71807695C=CA1918886660CDH23c.8488C= (p.Gln2830=)
c.2421C= (n.2421C=)
c.2085C= (n.2085C=)
c.8503C= (p.Gln2835=)
c.1768C= (p.Gln590=)
n.2024C=
c.8683C= (p.Gln2895=)
c.8617C= (p.Gln2873=)
c.8680C= (p.Gln2894=)
c.8677C= (p.Gln2893=)
c.8623C= (p.Gln2875=)
c.8593C= (p.Gln2865=)
c.8548C= (p.Gln2850=)
c.8143C= (p.Gln2715=)
c.7501C= (p.Gln2501=)
c.5011C= (p.Gln1671=)
10g.71807695C>GCA377131640CDH23c.8488C>G (p.Gln2830Glu)
c.2421C>G (n.2421C>G)
c.2085C>G (n.2085C>G)
c.8503C>G (p.Gln2835Glu)
c.1768C>G (p.Gln590Glu)
n.2024C>G
c.8683C>G (p.Gln2895Glu)
c.8617C>G (p.Gln2873Glu)
c.8680C>G (p.Gln2894Glu)
c.8677C>G (p.Gln2893Glu)
c.8623C>G (p.Gln2875Glu)
c.8593C>G (p.Gln2865Glu)
c.8548C>G (p.Gln2850Glu)
c.8143C>G (p.Gln2715Glu)
c.7501C>G (p.Gln2501Glu)
c.5011C>G (p.Gln1671Glu)
10g.71807695C>TCA377131641CDH23c.8488C>T (p.Gln2830Ter)
c.2421C>T (n.2421C>T)
c.2085C>T (n.2085C>T)
c.8503C>T (p.Gln2835Ter)
c.1768C>T (p.Gln590Ter)
n.2024C>T
c.8683C>T (p.Gln2895Ter)
c.8617C>T (p.Gln2873Ter)
c.8680C>T (p.Gln2894Ter)
c.8677C>T (p.Gln2893Ter)
c.8623C>T (p.Gln2875Ter)
c.8593C>T (p.Gln2865Ter)
c.8548C>T (p.Gln2850Ter)
c.8143C>T (p.Gln2715Ter)
c.7501C>T (p.Gln2501Ter)
c.5011C>T (p.Gln1671Ter)
10g.71807696A=CA1918886664CDH23c.8489A= (p.Gln2830=)
c.2422A= (n.2422A=)
c.2086A= (n.2086A=)
c.8504A= (p.Gln2835=)
c.1769A= (p.Gln590=)
n.2025A=
c.8684A= (p.Gln2895=)
c.8618A= (p.Gln2873=)
c.8681A= (p.Gln2894=)
c.8678A= (p.Gln2893=)
c.8624A= (p.Gln2875=)
c.8594A= (p.Gln2865=)
c.8549A= (p.Gln2850=)
c.8144A= (p.Gln2715=)
c.7502A= (p.Gln2501=)
c.5012A= (p.Gln1671=)
10g.71807696A>CCA377131642CDH23c.8489A>C (p.Gln2830Pro)
c.2422A>C (n.2422A>C)
c.2086A>C (n.2086A>C)
c.8504A>C (p.Gln2835Pro)
c.1769A>C (p.Gln590Pro)
n.2025A>C
c.8684A>C (p.Gln2895Pro)
c.8618A>C (p.Gln2873Pro)
c.8681A>C (p.Gln2894Pro)
c.8678A>C (p.Gln2893Pro)
c.8624A>C (p.Gln2875Pro)
c.8594A>C (p.Gln2865Pro)
c.8549A>C (p.Gln2850Pro)
c.8144A>C (p.Gln2715Pro)
c.7502A>C (p.Gln2501Pro)
c.5012A>C (p.Gln1671Pro)
 dbSNP gnomAD v2 gnomAD v4
10g.71807696A>GCA377131643CDH23c.8489A>G (p.Gln2830Arg)
c.2422A>G (n.2422A>G)
c.2086A>G (n.2086A>G)
c.8504A>G (p.Gln2835Arg)
c.1769A>G (p.Gln590Arg)
n.2025A>G
c.8684A>G (p.Gln2895Arg)
c.8618A>G (p.Gln2873Arg)
c.8681A>G (p.Gln2894Arg)
c.8678A>G (p.Gln2893Arg)
c.8624A>G (p.Gln2875Arg)
c.8594A>G (p.Gln2865Arg)
c.8549A>G (p.Gln2850Arg)
c.8144A>G (p.Gln2715Arg)
c.7502A>G (p.Gln2501Arg)
c.5012A>G (p.Gln1671Arg)
 gnomAD v4
10g.71807696A>TCA377131644CDH23c.8489A>T (p.Gln2830Leu)
c.2422A>T (n.2422A>T)
c.2086A>T (n.2086A>T)
c.8504A>T (p.Gln2835Leu)
c.1769A>T (p.Gln590Leu)
n.2025A>T
c.8684A>T (p.Gln2895Leu)
c.8618A>T (p.Gln2873Leu)
c.8681A>T (p.Gln2894Leu)
c.8678A>T (p.Gln2893Leu)
c.8624A>T (p.Gln2875Leu)
c.8594A>T (p.Gln2865Leu)
c.8549A>T (p.Gln2850Leu)
c.8144A>T (p.Gln2715Leu)
c.7502A>T (p.Gln2501Leu)
c.5012A>T (p.Gln1671Leu)
10g.71807696_71807697delinsCCCA2580081856CDH23c.8489_8490delinsCC (p.Gln2830Pro)
c.2422_2423delinsCC (n.2422_2423delinsCC)
c.2086_2087delinsCC (n.2086_2087delinsCC)
c.8504_8505delinsCC (p.Gln2835Pro)
c.1769_1770delinsCC (p.Gln590Pro)
n.2025_2026delinsCC
c.8684_8685delinsCC (p.Gln2895Pro)
c.8618_8619delinsCC (p.Gln2873Pro)
c.8681_8682delinsCC (p.Gln2894Pro)
c.8678_8679delinsCC (p.Gln2893Pro)
c.8624_8625delinsCC (p.Gln2875Pro)
c.8594_8595delinsCC (p.Gln2865Pro)
c.8549_8550delinsCC (p.Gln2850Pro)
c.8144_8145delinsCC (p.Gln2715Pro)
c.7502_7503delinsCC (p.Gln2501Pro)
c.5012_5013delinsCC (p.Gln1671Pro)
 ClinVar
10g.71807697G>ACA470282577CDH23c.8490G>A (p.Gln2830=)
c.2423G>A (n.2423G>A)
c.2087G>A (n.2087G>A)
c.8505G>A (p.Gln2835=)
c.1770G>A (p.Gln590=)
n.2026G>A
c.8685G>A (p.Gln2895=)
c.8619G>A (p.Gln2873=)
c.8682G>A (p.Gln2894=)
c.8679G>A (p.Gln2893=)
c.8625G>A (p.Gln2875=)
c.8595G>A (p.Gln2865=)
c.8550G>A (p.Gln2850=)
c.8145G>A (p.Gln2715=)
c.7503G>A (p.Gln2501=)
c.5013G>A (p.Gln1671=)
 COSMIC
10g.71807697G>CCA377131645CDH23c.8490G>C (p.Gln2830His)
c.2423G>C (n.2423G>C)
c.2087G>C (n.2087G>C)
c.8505G>C (p.Gln2835His)
c.1770G>C (p.Gln590His)
n.2026G>C
c.8685G>C (p.Gln2895His)
c.8619G>C (p.Gln2873His)
c.8682G>C (p.Gln2894His)
c.8679G>C (p.Gln2893His)
c.8625G>C (p.Gln2875His)
c.8595G>C (p.Gln2865His)
c.8550G>C (p.Gln2850His)
c.8145G>C (p.Gln2715His)
c.7503G>C (p.Gln2501His)
c.5013G>C (p.Gln1671His)
 dbSNP gnomAD v2 gnomAD v4
10g.71807697G=CA1918886668CDH23c.8490G= (p.Gln2830=)
c.2423G= (n.2423G=)
c.2087G= (n.2087G=)
c.8505G= (p.Gln2835=)
c.1770G= (p.Gln590=)
n.2026G=
c.8685G= (p.Gln2895=)
c.8619G= (p.Gln2873=)
c.8682G= (p.Gln2894=)
c.8679G= (p.Gln2893=)
c.8625G= (p.Gln2875=)
c.8595G= (p.Gln2865=)
c.8550G= (p.Gln2850=)
c.8145G= (p.Gln2715=)
c.7503G= (p.Gln2501=)
c.5013G= (p.Gln1671=)
10g.71807697G>TCA377131646CDH23c.8490G>T (p.Gln2830His)
c.2423G>T (n.2423G>T)
c.2087G>T (n.2087G>T)
c.8505G>T (p.Gln2835His)
c.1770G>T (p.Gln590His)
n.2026G>T
c.8685G>T (p.Gln2895His)
c.8619G>T (p.Gln2873His)
c.8682G>T (p.Gln2894His)
c.8679G>T (p.Gln2893His)
c.8625G>T (p.Gln2875His)
c.8595G>T (p.Gln2865His)
c.8550G>T (p.Gln2850His)
c.8145G>T (p.Gln2715His)
c.7503G>T (p.Gln2501His)
c.5013G>T (p.Gln1671His)
10g.71807698G>ACA377131647CDH23c.8491G>A (p.Glu2831Lys)
c.2424G>A (n.2424G>A)
c.2088G>A (n.2088G>A)
c.8506G>A (p.Glu2836Lys)
c.1771G>A (p.Glu591Lys)
n.2027G>A
c.8686G>A (p.Glu2896Lys)
c.8620G>A (p.Glu2874Lys)
c.8683G>A (p.Glu2895Lys)
c.8680G>A (p.Glu2894Lys)
c.8626G>A (p.Glu2876Lys)
c.8596G>A (p.Glu2866Lys)
c.8551G>A (p.Glu2851Lys)
c.8146G>A (p.Glu2716Lys)
c.7504G>A (p.Glu2502Lys)
c.5014G>A (p.Glu1672Lys)
 COSMIC
10g.71807698G>CCA377131648CDH23c.8491G>C (p.Glu2831Gln)
c.2424G>C (n.2424G>C)
c.2088G>C (n.2088G>C)
c.8506G>C (p.Glu2836Gln)
c.1771G>C (p.Glu591Gln)
n.2027G>C
c.8686G>C (p.Glu2896Gln)
c.8620G>C (p.Glu2874Gln)
c.8683G>C (p.Glu2895Gln)
c.8680G>C (p.Glu2894Gln)
c.8626G>C (p.Glu2876Gln)
c.8596G>C (p.Glu2866Gln)
c.8551G>C (p.Glu2851Gln)
c.8146G>C (p.Glu2716Gln)
c.7504G>C (p.Glu2502Gln)
c.5014G>C (p.Glu1672Gln)
10g.71807698G>TCA377131649CDH23c.8491G>T (p.Glu2831Ter)
c.2424G>T (n.2424G>T)
c.2088G>T (n.2088G>T)
c.8506G>T (p.Glu2836Ter)
c.1771G>T (p.Glu591Ter)
n.2027G>T
c.8686G>T (p.Glu2896Ter)
c.8620G>T (p.Glu2874Ter)
c.8683G>T (p.Glu2895Ter)
c.8680G>T (p.Glu2894Ter)
c.8626G>T (p.Glu2876Ter)
c.8596G>T (p.Glu2866Ter)
c.8551G>T (p.Glu2851Ter)
c.8146G>T (p.Glu2716Ter)
c.7504G>T (p.Glu2502Ter)
c.5014G>T (p.Glu1672Ter)
10g.71807699A>CCA377131652CDH23c.8492A>C (p.Glu2831Ala)
c.2425A>C (n.2425A>C)
c.2089A>C (n.2089A>C)
c.8507A>C (p.Glu2836Ala)
c.1772A>C (p.Glu591Ala)
n.2028A>C
c.8687A>C (p.Glu2896Ala)
c.8621A>C (p.Glu2874Ala)
c.8684A>C (p.Glu2895Ala)
c.8681A>C (p.Glu2894Ala)
c.8627A>C (p.Glu2876Ala)
c.8597A>C (p.Glu2866Ala)
c.8552A>C (p.Glu2851Ala)
c.8147A>C (p.Glu2716Ala)
c.7505A>C (p.Glu2502Ala)
c.5015A>C (p.Glu1672Ala)
10g.71807699A>GCA377131651CDH23c.8492A>G (p.Glu2831Gly)
c.2425A>G (n.2425A>G)
c.2089A>G (n.2089A>G)
c.8507A>G (p.Glu2836Gly)
c.1772A>G (p.Glu591Gly)
n.2028A>G
c.8687A>G (p.Glu2896Gly)
c.8621A>G (p.Glu2874Gly)
c.8684A>G (p.Glu2895Gly)
c.8681A>G (p.Glu2894Gly)
c.8627A>G (p.Glu2876Gly)
c.8597A>G (p.Glu2866Gly)
c.8552A>G (p.Glu2851Gly)
c.8147A>G (p.Glu2716Gly)
c.7505A>G (p.Glu2502Gly)
c.5015A>G (p.Glu1672Gly)
 gnomAD v4
10g.71807699A>TCA377131650CDH23c.8492A>T (p.Glu2831Val)
c.2425A>T (n.2425A>T)
c.2089A>T (n.2089A>T)
c.8507A>T (p.Glu2836Val)
c.1772A>T (p.Glu591Val)
n.2028A>T
c.8687A>T (p.Glu2896Val)
c.8621A>T (p.Glu2874Val)
c.8684A>T (p.Glu2895Val)
c.8681A>T (p.Glu2894Val)
c.8627A>T (p.Glu2876Val)
c.8597A>T (p.Glu2866Val)
c.8552A>T (p.Glu2851Val)
c.8147A>T (p.Glu2716Val)
c.7505A>T (p.Glu2502Val)
c.5015A>T (p.Glu1672Val)
10g.71807700G>ACA470282578CDH23c.8493G>A (p.Glu2831=)
c.2426G>A (n.2426G>A)
c.2090G>A (n.2090G>A)
c.8508G>A (p.Glu2836=)
c.1773G>A (p.Glu591=)
n.2029G>A
c.8688G>A (p.Glu2896=)
c.8622G>A (p.Glu2874=)
c.8685G>A (p.Glu2895=)
c.8682G>A (p.Glu2894=)
c.8628G>A (p.Glu2876=)
c.8598G>A (p.Glu2866=)
c.8553G>A (p.Glu2851=)
c.8148G>A (p.Glu2716=)
c.7506G>A (p.Glu2502=)
c.5016G>A (p.Glu1672=)
 dbSNP gnomAD v2 gnomAD v4
10g.71807700G>CCA377131653CDH23c.8493G>C (p.Glu2831Asp)
c.2426G>C (n.2426G>C)
c.2090G>C (n.2090G>C)
c.8508G>C (p.Glu2836Asp)
c.1773G>C (p.Glu591Asp)
n.2029G>C
c.8688G>C (p.Glu2896Asp)
c.8622G>C (p.Glu2874Asp)
c.8685G>C (p.Glu2895Asp)
c.8682G>C (p.Glu2894Asp)
c.8628G>C (p.Glu2876Asp)
c.8598G>C (p.Glu2866Asp)
c.8553G>C (p.Glu2851Asp)
c.8148G>C (p.Glu2716Asp)
c.7506G>C (p.Glu2502Asp)
c.5016G>C (p.Glu1672Asp)
10g.71807700G=CA1918886671CDH23c.8493G= (p.Glu2831=)
c.2426G= (n.2426G=)
c.2090G= (n.2090G=)
c.8508G= (p.Glu2836=)
c.1773G= (p.Glu591=)
n.2029G=
c.8688G= (p.Glu2896=)
c.8622G= (p.Glu2874=)
c.8685G= (p.Glu2895=)
c.8682G= (p.Glu2894=)
c.8628G= (p.Glu2876=)
c.8598G= (p.Glu2866=)
c.8553G= (p.Glu2851=)
c.8148G= (p.Glu2716=)
c.7506G= (p.Glu2502=)
c.5016G= (p.Glu1672=)
10g.71807700G>TCA377131654CDH23c.8493G>T (p.Glu2831Asp)
c.2426G>T (n.2426G>T)
c.2090G>T (n.2090G>T)
c.8508G>T (p.Glu2836Asp)
c.1773G>T (p.Glu591Asp)
n.2029G>T
c.8688G>T (p.Glu2896Asp)
c.8622G>T (p.Glu2874Asp)
c.8685G>T (p.Glu2895Asp)
c.8682G>T (p.Glu2894Asp)
c.8628G>T (p.Glu2876Asp)
c.8598G>T (p.Glu2866Asp)
c.8553G>T (p.Glu2851Asp)
c.8148G>T (p.Glu2716Asp)
c.7506G>T (p.Glu2502Asp)
c.5016G>T (p.Glu1672Asp)
10g.71807701G>ACA377131655CDH23c.8494G>A (p.Val2832Met)
c.2427G>A (n.2427G>A)
c.2091G>A (n.2091G>A)
c.8509G>A (p.Val2837Met)
c.1774G>A (p.Val592Met)
n.2030G>A
c.8689G>A (p.Val2897Met)
c.8623G>A (p.Val2875Met)
c.8686G>A (p.Val2896Met)
c.8683G>A (p.Val2895Met)
c.8629G>A (p.Val2877Met)
c.8599G>A (p.Val2867Met)
c.8554G>A (p.Val2852Met)
c.8149G>A (p.Val2717Met)
c.7507G>A (p.Val2503Met)
c.5017G>A (p.Val1673Met)
 dbSNP gnomAD v2
10g.71807701G>CCA377131656CDH23c.8494G>C (p.Val2832Leu)
c.2427G>C (n.2427G>C)
c.2091G>C (n.2091G>C)
c.8509G>C (p.Val2837Leu)
c.1774G>C (p.Val592Leu)
n.2030G>C
c.8689G>C (p.Val2897Leu)
c.8623G>C (p.Val2875Leu)
c.8686G>C (p.Val2896Leu)
c.8683G>C (p.Val2895Leu)
c.8629G>C (p.Val2877Leu)
c.8599G>C (p.Val2867Leu)
c.8554G>C (p.Val2852Leu)
c.8149G>C (p.Val2717Leu)
c.7507G>C (p.Val2503Leu)
c.5017G>C (p.Val1673Leu)
10g.71807701G=CA1918886675CDH23c.8494G= (p.Val2832=)
c.2427G= (n.2427G=)
c.2091G= (n.2091G=)
c.8509G= (p.Val2837=)
c.1774G= (p.Val592=)
n.2030G=
c.8689G= (p.Val2897=)
c.8623G= (p.Val2875=)
c.8686G= (p.Val2896=)
c.8683G= (p.Val2895=)
c.8629G= (p.Val2877=)
c.8599G= (p.Val2867=)
c.8554G= (p.Val2852=)
c.8149G= (p.Val2717=)
c.7507G= (p.Val2503=)
c.5017G= (p.Val1673=)
10g.71807701G>TCA377131657CDH23c.8494G>T (p.Val2832Leu)
c.2427G>T (n.2427G>T)
c.2091G>T (n.2091G>T)
c.8509G>T (p.Val2837Leu)
c.1774G>T (p.Val592Leu)
n.2030G>T
c.8689G>T (p.Val2897Leu)
c.8623G>T (p.Val2875Leu)
c.8686G>T (p.Val2896Leu)
c.8683G>T (p.Val2895Leu)
c.8629G>T (p.Val2877Leu)
c.8599G>T (p.Val2867Leu)
c.8554G>T (p.Val2852Leu)
c.8149G>T (p.Val2717Leu)
c.7507G>T (p.Val2503Leu)
c.5017G>T (p.Val1673Leu)
10g.71807702T>ACA377131658CDH23c.8495T>A (p.Val2832Glu)
c.2428T>A (n.2428T>A)
c.2092T>A (n.2092T>A)
c.8510T>A (p.Val2837Glu)
c.1775T>A (p.Val592Glu)
n.2031T>A
c.8690T>A (p.Val2897Glu)
c.8624T>A (p.Val2875Glu)
c.8687T>A (p.Val2896Glu)
c.8684T>A (p.Val2895Glu)
c.8630T>A (p.Val2877Glu)
c.8600T>A (p.Val2867Glu)
c.8555T>A (p.Val2852Glu)
c.8150T>A (p.Val2717Glu)
c.7508T>A (p.Val2503Glu)
c.5018T>A (p.Val1673Glu)
10g.71807702T>CCA377131659CDH23c.8495T>C (p.Val2832Ala)
c.2428T>C (n.2428T>C)
c.2092T>C (n.2092T>C)
c.8510T>C (p.Val2837Ala)
c.1775T>C (p.Val592Ala)
n.2031T>C
c.8690T>C (p.Val2897Ala)
c.8624T>C (p.Val2875Ala)
c.8687T>C (p.Val2896Ala)
c.8684T>C (p.Val2895Ala)
c.8630T>C (p.Val2877Ala)
c.8600T>C (p.Val2867Ala)
c.8555T>C (p.Val2852Ala)
c.8150T>C (p.Val2717Ala)
c.7508T>C (p.Val2503Ala)
c.5018T>C (p.Val1673Ala)
10g.71807702T>GCA377131660CDH23c.8495T>G (p.Val2832Gly)
c.2428T>G (n.2428T>G)
c.2092T>G (n.2092T>G)
c.8510T>G (p.Val2837Gly)
c.1775T>G (p.Val592Gly)
n.2031T>G
c.8690T>G (p.Val2897Gly)
c.8624T>G (p.Val2875Gly)
c.8687T>G (p.Val2896Gly)
c.8684T>G (p.Val2895Gly)
c.8630T>G (p.Val2877Gly)
c.8600T>G (p.Val2867Gly)
c.8555T>G (p.Val2852Gly)
c.8150T>G (p.Val2717Gly)
c.7508T>G (p.Val2503Gly)
c.5018T>G (p.Val1673Gly)
 dbSNP gnomAD v4
10g.71807702T=CA1918886679CDH23c.8495T= (p.Val2832=)
c.2428T= (n.2428T=)
c.2092T= (n.2092T=)
c.8510T= (p.Val2837=)
c.1775T= (p.Val592=)
n.2031T=
c.8690T= (p.Val2897=)
c.8624T= (p.Val2875=)
c.8687T= (p.Val2896=)
c.8684T= (p.Val2895=)
c.8630T= (p.Val2877=)
c.8600T= (p.Val2867=)
c.8555T= (p.Val2852=)
c.8150T= (p.Val2717=)
c.7508T= (p.Val2503=)
c.5018T= (p.Val1673=)
10g.71807703G>ACA5546663CDH23c.8496G>A (p.Val2832=)
c.2429G>A (n.2429G>A)
c.2093G>A (n.2093G>A)
c.8511G>A (p.Val2837=)
c.1776G>A (p.Val592=)
n.2032G>A
c.8691G>A (p.Val2897=)
c.8625G>A (p.Val2875=)
c.8688G>A (p.Val2896=)
c.8685G>A (p.Val2895=)
c.8631G>A (p.Val2877=)
c.8601G>A (p.Val2867=)
c.8556G>A (p.Val2852=)
c.8151G>A (p.Val2717=)
c.7509G>A (p.Val2503=)
c.5019G>A (p.Val1673=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71807703G>CCA470282585CDH23c.8496G>C (p.Val2832=)
c.2429G>C (n.2429G>C)
c.2093G>C (n.2093G>C)
c.8511G>C (p.Val2837=)
c.1776G>C (p.Val592=)
n.2032G>C
c.8691G>C (p.Val2897=)
c.8625G>C (p.Val2875=)
c.8688G>C (p.Val2896=)
c.8685G>C (p.Val2895=)
c.8631G>C (p.Val2877=)
c.8601G>C (p.Val2867=)
c.8556G>C (p.Val2852=)
c.8151G>C (p.Val2717=)
c.7509G>C (p.Val2503=)
c.5019G>C (p.Val1673=)
10g.71807703G=CA1918886683CDH23c.8496G= (p.Val2832=)
c.2429G= (n.2429G=)
c.2093G= (n.2093G=)
c.8511G= (p.Val2837=)
c.1776G= (p.Val592=)
n.2032G=
c.8691G= (p.Val2897=)
c.8625G= (p.Val2875=)
c.8688G= (p.Val2896=)
c.8685G= (p.Val2895=)
c.8631G= (p.Val2877=)
c.8601G= (p.Val2867=)
c.8556G= (p.Val2852=)
c.8151G= (p.Val2717=)
c.7509G= (p.Val2503=)
c.5019G= (p.Val1673=)
10g.71807703G>TCA470282583CDH23c.8496G>T (p.Val2832=)
c.2429G>T (n.2429G>T)
c.2093G>T (n.2093G>T)
c.8511G>T (p.Val2837=)
c.1776G>T (p.Val592=)
n.2032G>T
c.8691G>T (p.Val2897=)
c.8625G>T (p.Val2875=)
c.8688G>T (p.Val2896=)
c.8685G>T (p.Val2895=)
c.8631G>T (p.Val2877=)
c.8601G>T (p.Val2867=)
c.8556G>T (p.Val2852=)
c.8151G>T (p.Val2717=)
c.7509G>T (p.Val2503=)
c.5019G>T (p.Val1673=)
10g.71807704C>ACA377131661CDH23c.8497C>A (p.Arg2833Ser)
c.2430C>A (n.2430C>A)
c.2094C>A (n.2094C>A)
c.8512C>A (p.Arg2838Ser)
c.1777C>A (p.Arg593Ser)
n.2033C>A
c.8692C>A (p.Arg2898Ser)
c.8626C>A (p.Arg2876Ser)
c.8689C>A (p.Arg2897Ser)
c.8686C>A (p.Arg2896Ser)
c.8632C>A (p.Arg2878Ser)
c.8602C>A (p.Arg2868Ser)
c.8557C>A (p.Arg2853Ser)
c.8152C>A (p.Arg2718Ser)
c.7510C>A (p.Arg2504Ser)
c.5020C>A (p.Arg1674Ser)
10g.71807704C=CA1918886694CDH23c.8497C= (p.Arg2833=)
c.2430C= (n.2430C=)
c.2094C= (n.2094C=)
c.8512C= (p.Arg2838=)
c.1777C= (p.Arg593=)
n.2033C=
c.8692C= (p.Arg2898=)
c.8626C= (p.Arg2876=)
c.8689C= (p.Arg2897=)
c.8686C= (p.Arg2896=)
c.8632C= (p.Arg2878=)
c.8602C= (p.Arg2868=)
c.8557C= (p.Arg2853=)
c.8152C= (p.Arg2718=)
c.7510C= (p.Arg2504=)
c.5020C= (p.Arg1674=)
10g.71807704C>GCA5546665CDH23c.8497C>G (p.Arg2833Gly)
c.2430C>G (n.2430C>G)
c.2094C>G (n.2094C>G)
c.8512C>G (p.Arg2838Gly)
c.1777C>G (p.Arg593Gly)
n.2033C>G
c.8692C>G (p.Arg2898Gly)
c.8626C>G (p.Arg2876Gly)
c.8689C>G (p.Arg2897Gly)
c.8686C>G (p.Arg2896Gly)
c.8632C>G (p.Arg2878Gly)
c.8602C>G (p.Arg2868Gly)
c.8557C>G (p.Arg2853Gly)
c.8152C>G (p.Arg2718Gly)
c.7510C>G (p.Arg2504Gly)
c.5020C>G (p.Arg1674Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71807704C>TCA5546664CDH23c.8497C>T (p.Arg2833Cys)
c.2430C>T (n.2430C>T)
c.2094C>T (n.2094C>T)
c.8512C>T (p.Arg2838Cys)
c.1777C>T (p.Arg593Cys)
n.2033C>T
c.8692C>T (p.Arg2898Cys)
c.8626C>T (p.Arg2876Cys)
c.8689C>T (p.Arg2897Cys)
c.8686C>T (p.Arg2896Cys)
c.8632C>T (p.Arg2878Cys)
c.8602C>T (p.Arg2868Cys)
c.8557C>T (p.Arg2853Cys)
c.8152C>T (p.Arg2718Cys)
c.7510C>T (p.Arg2504Cys)
c.5020C>T (p.Arg1674Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71807705G>ACA5546666CDH23c.8498G>A (p.Arg2833His)
c.2431G>A (n.2431G>A)
c.2095G>A (n.2095G>A)
c.8513G>A (p.Arg2838His)
c.1778G>A (p.Arg593His)
n.2034G>A
c.8693G>A (p.Arg2898His)
c.8627G>A (p.Arg2876His)
c.8690G>A (p.Arg2897His)
c.8687G>A (p.Arg2896His)
c.8633G>A (p.Arg2878His)
c.8603G>A (p.Arg2868His)
c.8558G>A (p.Arg2853His)
c.8153G>A (p.Arg2718His)
c.7511G>A (p.Arg2504His)
c.5021G>A (p.Arg1674His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71807705G>CCA377131662CDH23c.8498G>C (p.Arg2833Pro)
c.2431G>C (n.2431G>C)
c.2095G>C (n.2095G>C)
c.8513G>C (p.Arg2838Pro)
c.1778G>C (p.Arg593Pro)
n.2034G>C
c.8693G>C (p.Arg2898Pro)
c.8627G>C (p.Arg2876Pro)
c.8690G>C (p.Arg2897Pro)
c.8687G>C (p.Arg2896Pro)
c.8633G>C (p.Arg2878Pro)
c.8603G>C (p.Arg2868Pro)
c.8558G>C (p.Arg2853Pro)
c.8153G>C (p.Arg2718Pro)
c.7511G>C (p.Arg2504Pro)
c.5021G>C (p.Arg1674Pro)
10g.71807705G=CA1918886701CDH23c.8498G= (p.Arg2833=)
c.2431G= (n.2431G=)
c.2095G= (n.2095G=)
c.8513G= (p.Arg2838=)
c.1778G= (p.Arg593=)
n.2034G=
c.8693G= (p.Arg2898=)
c.8627G= (p.Arg2876=)
c.8690G= (p.Arg2897=)
c.8687G= (p.Arg2896=)
c.8633G= (p.Arg2878=)
c.8603G= (p.Arg2868=)
c.8558G= (p.Arg2853=)
c.8153G= (p.Arg2718=)
c.7511G= (p.Arg2504=)
c.5021G= (p.Arg1674=)
10g.71807705G>TCA5546667CDH23c.8498G>T (p.Arg2833Leu)
c.2431G>T (n.2431G>T)
c.2095G>T (n.2095G>T)
c.8513G>T (p.Arg2838Leu)
c.1778G>T (p.Arg593Leu)
n.2034G>T
c.8693G>T (p.Arg2898Leu)
c.8627G>T (p.Arg2876Leu)
c.8690G>T (p.Arg2897Leu)
c.8687G>T (p.Arg2896Leu)
c.8633G>T (p.Arg2878Leu)
c.8603G>T (p.Arg2868Leu)
c.8558G>T (p.Arg2853Leu)
c.8153G>T (p.Arg2718Leu)
c.7511G>T (p.Arg2504Leu)
c.5021G>T (p.Arg1674Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71807706C>ACA470282591CDH23c.8499C>A (p.Arg2833=)
c.2432C>A (n.2432C>A)
c.2096C>A (n.2096C>A)
c.8514C>A (p.Arg2838=)
c.1779C>A (p.Arg593=)
n.2035C>A
c.8694C>A (p.Arg2898=)
c.8628C>A (p.Arg2876=)
c.8691C>A (p.Arg2897=)
c.8688C>A (p.Arg2896=)
c.8634C>A (p.Arg2878=)
c.8604C>A (p.Arg2868=)
c.8559C>A (p.Arg2853=)
c.8154C>A (p.Arg2718=)
c.7512C>A (p.Arg2504=)
c.5022C>A (p.Arg1674=)
 dbSNP
10g.71807706C=CA1918886707CDH23c.8499C= (p.Arg2833=)
c.2432C= (n.2432C=)
c.2096C= (n.2096C=)
c.8514C= (p.Arg2838=)
c.1779C= (p.Arg593=)
n.2035C=
c.8694C= (p.Arg2898=)
c.8628C= (p.Arg2876=)
c.8691C= (p.Arg2897=)
c.8688C= (p.Arg2896=)
c.8634C= (p.Arg2878=)
c.8604C= (p.Arg2868=)
c.8559C= (p.Arg2853=)
c.8154C= (p.Arg2718=)
c.7512C= (p.Arg2504=)
c.5022C= (p.Arg1674=)
10g.71807706C>GCA470282590CDH23c.8499C>G (p.Arg2833=)
c.2432C>G (n.2432C>G)
c.2096C>G (n.2096C>G)
c.8514C>G (p.Arg2838=)
c.1779C>G (p.Arg593=)
n.2035C>G
c.8694C>G (p.Arg2898=)
c.8628C>G (p.Arg2876=)
c.8691C>G (p.Arg2897=)
c.8688C>G (p.Arg2896=)
c.8634C>G (p.Arg2878=)
c.8604C>G (p.Arg2868=)
c.8559C>G (p.Arg2853=)
c.8154C>G (p.Arg2718=)
c.7512C>G (p.Arg2504=)
c.5022C>G (p.Arg1674=)
10g.71807706C>TCA137598CDH23c.8499C>T (p.Arg2833=)
c.2432C>T (n.2432C>T)
c.2096C>T (n.2096C>T)
c.8514C>T (p.Arg2838=)
c.1779C>T (p.Arg593=)
n.2035C>T
c.8694C>T (p.Arg2898=)
c.8628C>T (p.Arg2876=)
c.8691C>T (p.Arg2897=)
c.8688C>T (p.Arg2896=)
c.8634C>T (p.Arg2878=)
c.8604C>T (p.Arg2868=)
c.8559C>T (p.Arg2853=)
c.8154C>T (p.Arg2718=)
c.7512C>T (p.Arg2504=)
c.5022C>T (p.Arg1674=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71807707G>ACA5546668CDH23c.8500G>A (p.Val2834Ile)
c.2433G>A (n.2433G>A)
c.2097G>A (n.2097G>A)
c.8515G>A (p.Val2839Ile)
c.1780G>A (p.Val594Ile)
n.2036G>A
c.8695G>A (p.Val2899Ile)
c.8629G>A (p.Val2877Ile)
c.8692G>A (p.Val2898Ile)
c.8689G>A (p.Val2897Ile)
c.8635G>A (p.Val2879Ile)
c.8605G>A (p.Val2869Ile)
c.8560G>A (p.Val2854Ile)
c.8155G>A (p.Val2719Ile)
c.7513G>A (p.Val2505Ile)
c.5023G>A (p.Val1675Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71807707G>CCA377131663CDH23c.8500G>C (p.Val2834Leu)
c.2433G>C (n.2433G>C)
c.2097G>C (n.2097G>C)
c.8515G>C (p.Val2839Leu)
c.1780G>C (p.Val594Leu)
n.2036G>C
c.8695G>C (p.Val2899Leu)
c.8629G>C (p.Val2877Leu)
c.8692G>C (p.Val2898Leu)
c.8689G>C (p.Val2897Leu)
c.8635G>C (p.Val2879Leu)
c.8605G>C (p.Val2869Leu)
c.8560G>C (p.Val2854Leu)
c.8155G>C (p.Val2719Leu)
c.7513G>C (p.Val2505Leu)
c.5023G>C (p.Val1675Leu)
 dbSNP
10g.71807707G=CA1918886714CDH23c.8500G= (p.Val2834=)
c.2433G= (n.2433G=)
c.2097G= (n.2097G=)
c.8515G= (p.Val2839=)
c.1780G= (p.Val594=)
n.2036G=
c.8695G= (p.Val2899=)
c.8629G= (p.Val2877=)
c.8692G= (p.Val2898=)
c.8689G= (p.Val2897=)
c.8635G= (p.Val2879=)
c.8605G= (p.Val2869=)
c.8560G= (p.Val2854=)
c.8155G= (p.Val2719=)
c.7513G= (p.Val2505=)
c.5023G= (p.Val1675=)
10g.71807707G>TCA377131664CDH23c.8500G>T (p.Val2834Phe)
c.2433G>T (n.2433G>T)
c.2097G>T (n.2097G>T)
c.8515G>T (p.Val2839Phe)
c.1780G>T (p.Val594Phe)
n.2036G>T
c.8695G>T (p.Val2899Phe)
c.8629G>T (p.Val2877Phe)
c.8692G>T (p.Val2898Phe)
c.8689G>T (p.Val2897Phe)
c.8635G>T (p.Val2879Phe)
c.8605G>T (p.Val2869Phe)
c.8560G>T (p.Val2854Phe)
c.8155G>T (p.Val2719Phe)
c.7513G>T (p.Val2505Phe)
c.5023G>T (p.Val1675Phe)
10g.71807708T>ACA377131665CDH23c.8501T>A (p.Val2834Asp)
c.2434T>A (n.2434T>A)
c.2098T>A (n.2098T>A)
c.8516T>A (p.Val2839Asp)
c.1781T>A (p.Val594Asp)
n.2037T>A
c.8696T>A (p.Val2899Asp)
c.8630T>A (p.Val2877Asp)
c.8693T>A (p.Val2898Asp)
c.8690T>A (p.Val2897Asp)
c.8636T>A (p.Val2879Asp)
c.8606T>A (p.Val2869Asp)
c.8561T>A (p.Val2854Asp)
c.8156T>A (p.Val2719Asp)
c.7514T>A (p.Val2505Asp)
c.5024T>A (p.Val1675Asp)
10g.71807708T>CCA377131666CDH23c.8501T>C (p.Val2834Ala)
c.2434T>C (n.2434T>C)
c.2098T>C (n.2098T>C)
c.8516T>C (p.Val2839Ala)
c.1781T>C (p.Val594Ala)
n.2037T>C
c.8696T>C (p.Val2899Ala)
c.8630T>C (p.Val2877Ala)
c.8693T>C (p.Val2898Ala)
c.8690T>C (p.Val2897Ala)
c.8636T>C (p.Val2879Ala)
c.8606T>C (p.Val2869Ala)
c.8561T>C (p.Val2854Ala)
c.8156T>C (p.Val2719Ala)
c.7514T>C (p.Val2505Ala)
c.5024T>C (p.Val1675Ala)
 gnomAD v4
10g.71807708T>GCA377131667CDH23c.8501T>G (p.Val2834Gly)
c.2434T>G (n.2434T>G)
c.2098T>G (n.2098T>G)
c.8516T>G (p.Val2839Gly)
c.1781T>G (p.Val594Gly)
n.2037T>G
c.8696T>G (p.Val2899Gly)
c.8630T>G (p.Val2877Gly)
c.8693T>G (p.Val2898Gly)
c.8690T>G (p.Val2897Gly)
c.8636T>G (p.Val2879Gly)
c.8606T>G (p.Val2869Gly)
c.8561T>G (p.Val2854Gly)
c.8156T>G (p.Val2719Gly)
c.7514T>G (p.Val2505Gly)
c.5024T>G (p.Val1675Gly)
10g.71807709T>ACA470282594CDH23c.8502T>A (p.Val2834=)
c.2435T>A (n.2435T>A)
c.2099T>A (n.2099T>A)
c.8517T>A (p.Val2839=)
c.1782T>A (p.Val594=)
n.2038T>A
c.8697T>A (p.Val2899=)
c.8631T>A (p.Val2877=)
c.8694T>A (p.Val2898=)
c.8691T>A (p.Val2897=)
c.8637T>A (p.Val2879=)
c.8607T>A (p.Val2869=)
c.8562T>A (p.Val2854=)
c.8157T>A (p.Val2719=)
c.7515T>A (p.Val2505=)
c.5025T>A (p.Val1675=)
10g.71807709T>CCA470282598CDH23c.8502T>C (p.Val2834=)
c.2435T>C (n.2435T>C)
c.2099T>C (n.2099T>C)
c.8517T>C (p.Val2839=)
c.1782T>C (p.Val594=)
n.2038T>C
c.8697T>C (p.Val2899=)
c.8631T>C (p.Val2877=)
c.8694T>C (p.Val2898=)
c.8691T>C (p.Val2897=)
c.8637T>C (p.Val2879=)
c.8607T>C (p.Val2869=)
c.8562T>C (p.Val2854=)
c.8157T>C (p.Val2719=)
c.7515T>C (p.Val2505=)
c.5025T>C (p.Val1675=)
10g.71807709T>GCA470282596CDH23c.8502T>G (p.Val2834=)
c.2435T>G (n.2435T>G)
c.2099T>G (n.2099T>G)
c.8517T>G (p.Val2839=)
c.1782T>G (p.Val594=)
n.2038T>G
c.8697T>G (p.Val2899=)
c.8631T>G (p.Val2877=)
c.8694T>G (p.Val2898=)
c.8691T>G (p.Val2897=)
c.8637T>G (p.Val2879=)
c.8607T>G (p.Val2869=)
c.8562T>G (p.Val2854=)
c.8157T>G (p.Val2719=)
c.7515T>G (p.Val2505=)
c.5025T>G (p.Val1675=)
10g.71807710G>ACA377131672CDH23c.8503G>A (p.Val2835Met)
c.2436G>A (n.2436G>A)
c.2100G>A (n.2100G>A)
c.8518G>A (p.Val2840Met)
c.1783G>A (p.Val595Met)
n.2039G>A
c.8698G>A (p.Val2900Met)
c.8632G>A (p.Val2878Met)
c.8695G>A (p.Val2899Met)
c.8692G>A (p.Val2898Met)
c.8638G>A (p.Val2880Met)
c.8608G>A (p.Val2870Met)
c.8563G>A (p.Val2855Met)
c.8158G>A (p.Val2720Met)
c.7516G>A (p.Val2506Met)
c.5026G>A (p.Val1676Met)
 dbSNP
10g.71807710G>CCA377131669CDH23c.8503G>C (p.Val2835Leu)
c.2436G>C (n.2436G>C)
c.2100G>C (n.2100G>C)
c.8518G>C (p.Val2840Leu)
c.1783G>C (p.Val595Leu)
n.2039G>C
c.8698G>C (p.Val2900Leu)
c.8632G>C (p.Val2878Leu)
c.8695G>C (p.Val2899Leu)
c.8692G>C (p.Val2898Leu)
c.8638G>C (p.Val2880Leu)
c.8608G>C (p.Val2870Leu)
c.8563G>C (p.Val2855Leu)
c.8158G>C (p.Val2720Leu)
c.7516G>C (p.Val2506Leu)
c.5026G>C (p.Val1676Leu)
10g.71807710G>TCA377131671CDH23c.8503G>T (p.Val2835Leu)
c.2436G>T (n.2436G>T)
c.2100G>T (n.2100G>T)
c.8518G>T (p.Val2840Leu)
c.1783G>T (p.Val595Leu)
n.2039G>T
c.8698G>T (p.Val2900Leu)
c.8632G>T (p.Val2878Leu)
c.8695G>T (p.Val2899Leu)
c.8692G>T (p.Val2898Leu)
c.8638G>T (p.Val2880Leu)
c.8608G>T (p.Val2870Leu)
c.8563G>T (p.Val2855Leu)
c.8158G>T (p.Val2720Leu)
c.7516G>T (p.Val2506Leu)
c.5026G>T (p.Val1676Leu)
10g.71807711T>ACA377131674CDH23c.8504T>A (p.Val2835Glu)
c.2437T>A (n.2437T>A)
c.2101T>A (n.2101T>A)
c.8519T>A (p.Val2840Glu)
c.1784T>A (p.Val595Glu)
n.2040T>A
c.8699T>A (p.Val2900Glu)
c.8633T>A (p.Val2878Glu)
c.8696T>A (p.Val2899Glu)
c.8693T>A (p.Val2898Glu)
c.8639T>A (p.Val2880Glu)
c.8609T>A (p.Val2870Glu)
c.8564T>A (p.Val2855Glu)
c.8159T>A (p.Val2720Glu)
c.7517T>A (p.Val2506Glu)
c.5027T>A (p.Val1676Glu)
10g.71807711T>CCA377131676CDH23c.8504T>C (p.Val2835Ala)
c.2437T>C (n.2437T>C)
c.2101T>C (n.2101T>C)
c.8519T>C (p.Val2840Ala)
c.1784T>C (p.Val595Ala)
n.2040T>C
c.8699T>C (p.Val2900Ala)
c.8633T>C (p.Val2878Ala)
c.8696T>C (p.Val2899Ala)
c.8693T>C (p.Val2898Ala)
c.8639T>C (p.Val2880Ala)
c.8609T>C (p.Val2870Ala)
c.8564T>C (p.Val2855Ala)
c.8159T>C (p.Val2720Ala)
c.7517T>C (p.Val2506Ala)
c.5027T>C (p.Val1676Ala)
 ClinVar
10g.71807711T>GCA377131678CDH23c.8504T>G (p.Val2835Gly)
c.2437T>G (n.2437T>G)
c.2101T>G (n.2101T>G)
c.8519T>G (p.Val2840Gly)
c.1784T>G (p.Val595Gly)
n.2040T>G
c.8699T>G (p.Val2900Gly)
c.8633T>G (p.Val2878Gly)
c.8696T>G (p.Val2899Gly)
c.8693T>G (p.Val2898Gly)
c.8639T>G (p.Val2880Gly)
c.8609T>G (p.Val2870Gly)
c.8564T>G (p.Val2855Gly)
c.8159T>G (p.Val2720Gly)
c.7517T>G (p.Val2506Gly)
c.5027T>G (p.Val1676Gly)
10g.71807712G>ACA470282602CDH23c.8505G>A (p.Val2835=)
c.2438G>A (n.2438G>A)
c.2102G>A (n.2102G>A)
c.8520G>A (p.Val2840=)
c.1785G>A (p.Val595=)
n.2041G>A
c.8700G>A (p.Val2900=)
c.8634G>A (p.Val2878=)
c.8697G>A (p.Val2899=)
c.8694G>A (p.Val2898=)
c.8640G>A (p.Val2880=)
c.8610G>A (p.Val2870=)
c.8565G>A (p.Val2855=)
c.8160G>A (p.Val2720=)
c.7518G>A (p.Val2506=)
c.5028G>A (p.Val1676=)
 dbSNP gnomAD v3 gnomAD v4
10g.71807712G>CCA470282604CDH23c.8505G>C (p.Val2835=)
c.2438G>C (n.2438G>C)
c.2102G>C (n.2102G>C)
c.8520G>C (p.Val2840=)
c.1785G>C (p.Val595=)
n.2041G>C
c.8700G>C (p.Val2900=)
c.8634G>C (p.Val2878=)
c.8697G>C (p.Val2899=)
c.8694G>C (p.Val2898=)
c.8640G>C (p.Val2880=)
c.8610G>C (p.Val2870=)
c.8565G>C (p.Val2855=)
c.8160G>C (p.Val2720=)
c.7518G>C (p.Val2506=)
c.5028G>C (p.Val1676=)
10g.71807712G=CA1918886716CDH23c.8505G= (p.Val2835=)
c.2438G= (n.2438G=)
c.2102G= (n.2102G=)
c.8520G= (p.Val2840=)
c.1785G= (p.Val595=)
n.2041G=
c.8700G= (p.Val2900=)
c.8634G= (p.Val2878=)
c.8697G= (p.Val2899=)
c.8694G= (p.Val2898=)
c.8640G= (p.Val2880=)
c.8610G= (p.Val2870=)
c.8565G= (p.Val2855=)
c.8160G= (p.Val2720=)
c.7518G= (p.Val2506=)
c.5028G= (p.Val1676=)
10g.71807712G>TCA470282605CDH23c.8505G>T (p.Val2835=)
c.2438G>T (n.2438G>T)
c.2102G>T (n.2102G>T)
c.8520G>T (p.Val2840=)
c.1785G>T (p.Val595=)
n.2041G>T
c.8700G>T (p.Val2900=)
c.8634G>T (p.Val2878=)
c.8697G>T (p.Val2899=)
c.8694G>T (p.Val2898=)
c.8640G>T (p.Val2880=)
c.8610G>T (p.Val2870=)
c.8565G>T (p.Val2855=)
c.8160G>T (p.Val2720=)
c.7518G>T (p.Val2506=)
c.5028G>T (p.Val1676=)
10g.71807713C>ACA377131680CDH23c.8506C>A (p.Leu2836Ile)
c.2439C>A (n.2439C>A)
c.2103C>A (n.2103C>A)
c.8521C>A (p.Leu2841Ile)
c.1786C>A (p.Leu596Ile)
n.2042C>A
c.8701C>A (p.Leu2901Ile)
c.8635C>A (p.Leu2879Ile)
c.8698C>A (p.Leu2900Ile)
c.8695C>A (p.Leu2899Ile)
c.8641C>A (p.Leu2881Ile)
c.8611C>A (p.Leu2871Ile)
c.8566C>A (p.Leu2856Ile)
c.8161C>A (p.Leu2721Ile)
c.7519C>A (p.Leu2507Ile)
c.5029C>A (p.Leu1677Ile)
10g.71807713C=CA1918886720CDH23c.8506C= (p.Leu2836=)
c.2439C= (n.2439C=)
c.2103C= (n.2103C=)
c.8521C= (p.Leu2841=)
c.1786C= (p.Leu596=)
n.2042C=
c.8701C= (p.Leu2901=)
c.8635C= (p.Leu2879=)
c.8698C= (p.Leu2900=)
c.8695C= (p.Leu2899=)
c.8641C= (p.Leu2881=)
c.8611C= (p.Leu2871=)
c.8566C= (p.Leu2856=)
c.8161C= (p.Leu2721=)
c.7519C= (p.Leu2507=)
c.5029C= (p.Leu1677=)
10g.71807713C>GCA377131682CDH23c.8506C>G (p.Leu2836Val)
c.2439C>G (n.2439C>G)
c.2103C>G (n.2103C>G)
c.8521C>G (p.Leu2841Val)
c.1786C>G (p.Leu596Val)
n.2042C>G
c.8701C>G (p.Leu2901Val)
c.8635C>G (p.Leu2879Val)
c.8698C>G (p.Leu2900Val)
c.8695C>G (p.Leu2899Val)
c.8641C>G (p.Leu2881Val)
c.8611C>G (p.Leu2871Val)
c.8566C>G (p.Leu2856Val)
c.8161C>G (p.Leu2721Val)
c.7519C>G (p.Leu2507Val)
c.5029C>G (p.Leu1677Val)
10g.71807713C>TCA470282607CDH23c.8506C>T (p.Leu2836=)
c.2439C>T (n.2439C>T)
c.2103C>T (n.2103C>T)
c.8521C>T (p.Leu2841=)
c.1786C>T (p.Leu596=)
n.2042C>T
c.8701C>T (p.Leu2901=)
c.8635C>T (p.Leu2879=)
c.8698C>T (p.Leu2900=)
c.8695C>T (p.Leu2899=)
c.8641C>T (p.Leu2881=)
c.8611C>T (p.Leu2871=)
c.8566C>T (p.Leu2856=)
c.8161C>T (p.Leu2721=)
c.7519C>T (p.Leu2507=)
c.5029C>T (p.Leu1677=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71807714T>ACA377131684CDH23c.8507T>A (p.Leu2836Gln)
c.2440T>A (n.2440T>A)
c.2104T>A (n.2104T>A)
c.8522T>A (p.Leu2841Gln)
c.1787T>A (p.Leu596Gln)
n.2043T>A
c.8702T>A (p.Leu2901Gln)
c.8636T>A (p.Leu2879Gln)
c.8699T>A (p.Leu2900Gln)
c.8696T>A (p.Leu2899Gln)
c.8642T>A (p.Leu2881Gln)
c.8612T>A (p.Leu2871Gln)
c.8567T>A (p.Leu2856Gln)
c.8162T>A (p.Leu2721Gln)
c.7520T>A (p.Leu2507Gln)
c.5030T>A (p.Leu1677Gln)
10g.71807714T>CCA377131688CDH23c.8507T>C (p.Leu2836Pro)
c.2440T>C (n.2440T>C)
c.2104T>C (n.2104T>C)
c.8522T>C (p.Leu2841Pro)
c.1787T>C (p.Leu596Pro)
n.2043T>C
c.8702T>C (p.Leu2901Pro)
c.8636T>C (p.Leu2879Pro)
c.8699T>C (p.Leu2900Pro)
c.8696T>C (p.Leu2899Pro)
c.8642T>C (p.Leu2881Pro)
c.8612T>C (p.Leu2871Pro)
c.8567T>C (p.Leu2856Pro)
c.8162T>C (p.Leu2721Pro)
c.7520T>C (p.Leu2507Pro)
c.5030T>C (p.Leu1677Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71807714T>GCA377131686CDH23c.8507T>G (p.Leu2836Arg)
c.2440T>G (n.2440T>G)
c.2104T>G (n.2104T>G)
c.8522T>G (p.Leu2841Arg)
c.1787T>G (p.Leu596Arg)
n.2043T>G
c.8702T>G (p.Leu2901Arg)
c.8636T>G (p.Leu2879Arg)
c.8699T>G (p.Leu2900Arg)
c.8696T>G (p.Leu2899Arg)
c.8642T>G (p.Leu2881Arg)
c.8612T>G (p.Leu2871Arg)
c.8567T>G (p.Leu2856Arg)
c.8162T>G (p.Leu2721Arg)
c.7520T>G (p.Leu2507Arg)
c.5030T>G (p.Leu1677Arg)
10g.71807714T=CA1918886722CDH23c.8507T= (p.Leu2836=)
c.2440T= (n.2440T=)
c.2104T= (n.2104T=)
c.8522T= (p.Leu2841=)
c.1787T= (p.Leu596=)
n.2043T=
c.8702T= (p.Leu2901=)
c.8636T= (p.Leu2879=)
c.8699T= (p.Leu2900=)
c.8696T= (p.Leu2899=)
c.8642T= (p.Leu2881=)
c.8612T= (p.Leu2871=)
c.8567T= (p.Leu2856=)
c.8162T= (p.Leu2721=)
c.7520T= (p.Leu2507=)
c.5030T= (p.Leu1677=)
10g.71807715A>CCA470282609CDH23c.8508A>C (p.Leu2836=)
c.2441A>C (n.2441A>C)
c.2105A>C (n.2105A>C)
c.8523A>C (p.Leu2841=)
c.1788A>C (p.Leu596=)
n.2044A>C
c.8703A>C (p.Leu2901=)
c.8637A>C (p.Leu2879=)
c.8700A>C (p.Leu2900=)
c.8697A>C (p.Leu2899=)
c.8643A>C (p.Leu2881=)
c.8613A>C (p.Leu2871=)
c.8568A>C (p.Leu2856=)
c.8163A>C (p.Leu2721=)
c.7521A>C (p.Leu2507=)
c.5031A>C (p.Leu1677=)
10g.71807715A>GCA470282612CDH23c.8508A>G (p.Leu2836=)
c.2441A>G (n.2441A>G)
c.2105A>G (n.2105A>G)
c.8523A>G (p.Leu2841=)
c.1788A>G (p.Leu596=)
n.2044A>G
c.8703A>G (p.Leu2901=)
c.8637A>G (p.Leu2879=)
c.8700A>G (p.Leu2900=)
c.8697A>G (p.Leu2899=)
c.8643A>G (p.Leu2881=)
c.8613A>G (p.Leu2871=)
c.8568A>G (p.Leu2856=)
c.8163A>G (p.Leu2721=)
c.7521A>G (p.Leu2507=)
c.5031A>G (p.Leu1677=)
10g.71807715A>TCA470282614CDH23c.8508A>T (p.Leu2836=)
c.2441A>T (n.2441A>T)
c.2105A>T (n.2105A>T)
c.8523A>T (p.Leu2841=)
c.1788A>T (p.Leu596=)
n.2044A>T
c.8703A>T (p.Leu2901=)
c.8637A>T (p.Leu2879=)
c.8700A>T (p.Leu2900=)
c.8697A>T (p.Leu2899=)
c.8643A>T (p.Leu2881=)
c.8613A>T (p.Leu2871=)
c.8568A>T (p.Leu2856=)
c.8163A>T (p.Leu2721=)
c.7521A>T (p.Leu2507=)
c.5031A>T (p.Leu1677=)
10g.71807716_71807736dupCA2609586566CDH23c.8509_8529dup (p.Pro2843_Pro2844insGluAspIleAsnAspGlnPro)
c.2442_2462dup (n.2442_2462dup)
c.2106_2126dup (n.2106_2126dup)
c.8524_8544dup (p.Pro2848_Pro2849insGluAspIleAsnAspGlnPro)
c.1789_1809dup (p.Pro603_Pro604insGluAspIleAsnAspGlnPro)
n.2045_2065dup
c.8704_8724dup (p.Pro2908_Pro2909insGluAspIleAsnAspGlnPro)
c.8638_8658dup (p.Pro2886_Pro2887insGluAspIleAsnAspGlnPro)
c.8701_8721dup (p.Pro2907_Pro2908insGluAspIleAsnAspGlnPro)
c.8698_8718dup (p.Pro2906_Pro2907insGluAspIleAsnAspGlnPro)
c.8644_8664dup (p.Pro2888_Pro2889insGluAspIleAsnAspGlnPro)
c.8614_8634dup (p.Pro2878_Pro2879insGluAspIleAsnAspGlnPro)
c.8569_8589dup (p.Pro2863_Pro2864insGluAspIleAsnAspGlnPro)
c.8164_8184dup (p.Pro2728_Pro2729insGluAspIleAsnAspGlnPro)
c.7522_7542dup (p.Pro2514_Pro2515insGluAspIleAsnAspGlnPro)
c.5032_5052dup (p.Pro1684_Pro1685insGluAspIleAsnAspGlnPro)
 gnomAD v4
10g.71807716G>ACA377131690CDH23c.8509G>A (p.Glu2837Lys)
c.2442G>A (n.2442G>A)
c.2106G>A (n.2106G>A)
c.8524G>A (p.Glu2842Lys)
c.1789G>A (p.Glu597Lys)
n.2045G>A
c.8704G>A (p.Glu2902Lys)
c.8638G>A (p.Glu2880Lys)
c.8701G>A (p.Glu2901Lys)
c.8698G>A (p.Glu2900Lys)
c.8644G>A (p.Glu2882Lys)
c.8614G>A (p.Glu2872Lys)
c.8569G>A (p.Glu2857Lys)
c.8164G>A (p.Glu2722Lys)
c.7522G>A (p.Glu2508Lys)
c.5032G>A (p.Glu1678Lys)
 gnomAD v4
10g.71807716G>CCA377131692CDH23c.8509G>C (p.Glu2837Gln)
c.2442G>C (n.2442G>C)
c.2106G>C (n.2106G>C)
c.8524G>C (p.Glu2842Gln)
c.1789G>C (p.Glu597Gln)
n.2045G>C
c.8704G>C (p.Glu2902Gln)
c.8638G>C (p.Glu2880Gln)
c.8701G>C (p.Glu2901Gln)
c.8698G>C (p.Glu2900Gln)
c.8644G>C (p.Glu2882Gln)
c.8614G>C (p.Glu2872Gln)
c.8569G>C (p.Glu2857Gln)
c.8164G>C (p.Glu2722Gln)
c.7522G>C (p.Glu2508Gln)
c.5032G>C (p.Glu1678Gln)
 dbSNP
10g.71807716G>TCA377131694CDH23c.8509G>T (p.Glu2837Ter)
c.2442G>T (n.2442G>T)
c.2106G>T (n.2106G>T)
c.8524G>T (p.Glu2842Ter)
c.1789G>T (p.Glu597Ter)
n.2045G>T
c.8704G>T (p.Glu2902Ter)
c.8638G>T (p.Glu2880Ter)
c.8701G>T (p.Glu2901Ter)
c.8698G>T (p.Glu2900Ter)
c.8644G>T (p.Glu2882Ter)
c.8614G>T (p.Glu2872Ter)
c.8569G>T (p.Glu2857Ter)
c.8164G>T (p.Glu2722Ter)
c.7522G>T (p.Glu2508Ter)
c.5032G>T (p.Glu1678Ter)
10g.71807717A=CA1918886726CDH23c.8510A= (p.Glu2837=)
c.2443A= (n.2443A=)
c.2107A= (n.2107A=)
c.8525A= (p.Glu2842=)
c.1790A= (p.Glu597=)
n.2046A=
c.8705A= (p.Glu2902=)
c.8639A= (p.Glu2880=)
c.8702A= (p.Glu2901=)
c.8699A= (p.Glu2900=)
c.8645A= (p.Glu2882=)
c.8615A= (p.Glu2872=)
c.8570A= (p.Glu2857=)
c.8165A= (p.Glu2722=)
c.7523A= (p.Glu2508=)
c.5033A= (p.Glu1678=)
10g.71807717A>CCA377131695CDH23c.8510A>C (p.Glu2837Ala)
c.2443A>C (n.2443A>C)
c.2107A>C (n.2107A>C)
c.8525A>C (p.Glu2842Ala)
c.1790A>C (p.Glu597Ala)
n.2046A>C
c.8705A>C (p.Glu2902Ala)
c.8639A>C (p.Glu2880Ala)
c.8702A>C (p.Glu2901Ala)
c.8699A>C (p.Glu2900Ala)
c.8645A>C (p.Glu2882Ala)
c.8615A>C (p.Glu2872Ala)
c.8570A>C (p.Glu2857Ala)
c.8165A>C (p.Glu2722Ala)
c.7523A>C (p.Glu2508Ala)
c.5033A>C (p.Glu1678Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71807717A>GCA377131697CDH23c.8510A>G (p.Glu2837Gly)
c.2443A>G (n.2443A>G)
c.2107A>G (n.2107A>G)
c.8525A>G (p.Glu2842Gly)
c.1790A>G (p.Glu597Gly)
n.2046A>G
c.8705A>G (p.Glu2902Gly)
c.8639A>G (p.Glu2880Gly)
c.8702A>G (p.Glu2901Gly)
c.8699A>G (p.Glu2900Gly)
c.8645A>G (p.Glu2882Gly)
c.8615A>G (p.Glu2872Gly)
c.8570A>G (p.Glu2857Gly)
c.8165A>G (p.Glu2722Gly)
c.7523A>G (p.Glu2508Gly)
c.5033A>G (p.Glu1678Gly)
10g.71807717A>TCA377131698CDH23c.8510A>T (p.Glu2837Val)
c.2443A>T (n.2443A>T)
c.2107A>T (n.2107A>T)
c.8525A>T (p.Glu2842Val)
c.1790A>T (p.Glu597Val)
n.2046A>T
c.8705A>T (p.Glu2902Val)
c.8639A>T (p.Glu2880Val)
c.8702A>T (p.Glu2901Val)
c.8699A>T (p.Glu2900Val)
c.8645A>T (p.Glu2882Val)
c.8615A>T (p.Glu2872Val)
c.8570A>T (p.Glu2857Val)
c.8165A>T (p.Glu2722Val)
c.7523A>T (p.Glu2508Val)
c.5033A>T (p.Glu1678Val)
 dbSNP
10g.71807718G>ACA470282616CDH23c.8511G>A (p.Glu2837=)
c.2444G>A (n.2444G>A)
c.2108G>A (n.2108G>A)
c.8526G>A (p.Glu2842=)
c.1791G>A (p.Glu597=)
n.2047G>A
c.8706G>A (p.Glu2902=)
c.8640G>A (p.Glu2880=)
c.8703G>A (p.Glu2901=)
c.8700G>A (p.Glu2900=)
c.8646G>A (p.Glu2882=)
c.8616G>A (p.Glu2872=)
c.8571G>A (p.Glu2857=)
c.8166G>A (p.Glu2722=)
c.7524G>A (p.Glu2508=)
c.5034G>A (p.Glu1678=)
10g.71807718G>CCA377131700CDH23c.8511G>C (p.Glu2837Asp)
c.2444G>C (n.2444G>C)
c.2108G>C (n.2108G>C)
c.8526G>C (p.Glu2842Asp)
c.1791G>C (p.Glu597Asp)
n.2047G>C
c.8706G>C (p.Glu2902Asp)
c.8640G>C (p.Glu2880Asp)
c.8703G>C (p.Glu2901Asp)
c.8700G>C (p.Glu2900Asp)
c.8646G>C (p.Glu2882Asp)
c.8616G>C (p.Glu2872Asp)
c.8571G>C (p.Glu2857Asp)
c.8166G>C (p.Glu2722Asp)
c.7524G>C (p.Glu2508Asp)
c.5034G>C (p.Glu1678Asp)
 dbSNP
10g.71807718G=CA1918886728CDH23c.8511G= (p.Glu2837=)
c.2444G= (n.2444G=)
c.2108G= (n.2108G=)
c.8526G= (p.Glu2842=)
c.1791G= (p.Glu597=)
n.2047G=
c.8706G= (p.Glu2902=)
c.8640G= (p.Glu2880=)
c.8703G= (p.Glu2901=)
c.8700G= (p.Glu2900=)
c.8646G= (p.Glu2882=)
c.8616G= (p.Glu2872=)
c.8571G= (p.Glu2857=)
c.8166G= (p.Glu2722=)
c.7524G= (p.Glu2508=)
c.5034G= (p.Glu1678=)
10g.71807718G>TCA377131702CDH23c.8511G>T (p.Glu2837Asp)
c.2444G>T (n.2444G>T)
c.2108G>T (n.2108G>T)
c.8526G>T (p.Glu2842Asp)
c.1791G>T (p.Glu597Asp)
n.2047G>T
c.8706G>T (p.Glu2902Asp)
c.8640G>T (p.Glu2880Asp)
c.8703G>T (p.Glu2901Asp)
c.8700G>T (p.Glu2900Asp)
c.8646G>T (p.Glu2882Asp)
c.8616G>T (p.Glu2872Asp)
c.8571G>T (p.Glu2857Asp)
c.8166G>T (p.Glu2722Asp)
c.7524G>T (p.Glu2508Asp)
c.5034G>T (p.Glu1678Asp)
10g.71807719G>ACA377131704CDH23c.8512G>A (p.Asp2838Asn)
c.2445G>A (n.2445G>A)
c.2109G>A (n.2109G>A)
c.8527G>A (p.Asp2843Asn)
c.1792G>A (p.Asp598Asn)
n.2048G>A
c.8707G>A (p.Asp2903Asn)
c.8641G>A (p.Asp2881Asn)
c.8704G>A (p.Asp2902Asn)
c.8701G>A (p.Asp2901Asn)
c.8647G>A (p.Asp2883Asn)
c.8617G>A (p.Asp2873Asn)
c.8572G>A (p.Asp2858Asn)
c.8167G>A (p.Asp2723Asn)
c.7525G>A (p.Asp2509Asn)
c.5035G>A (p.Asp1679Asn)
 dbSNP
10g.71807719G>CCA377131706CDH23c.8512G>C (p.Asp2838His)
c.2445G>C (n.2445G>C)
c.2109G>C (n.2109G>C)
c.8527G>C (p.Asp2843His)
c.1792G>C (p.Asp598His)
n.2048G>C
c.8707G>C (p.Asp2903His)
c.8641G>C (p.Asp2881His)
c.8704G>C (p.Asp2902His)
c.8701G>C (p.Asp2901His)
c.8647G>C (p.Asp2883His)
c.8617G>C (p.Asp2873His)
c.8572G>C (p.Asp2858His)
c.8167G>C (p.Asp2723His)
c.7525G>C (p.Asp2509His)
c.5035G>C (p.Asp1679His)
 dbSNP
10g.71807719G>TCA377131708CDH23c.8512G>T (p.Asp2838Tyr)
c.2445G>T (n.2445G>T)
c.2109G>T (n.2109G>T)
c.8527G>T (p.Asp2843Tyr)
c.1792G>T (p.Asp598Tyr)
n.2048G>T
c.8707G>T (p.Asp2903Tyr)
c.8641G>T (p.Asp2881Tyr)
c.8704G>T (p.Asp2902Tyr)
c.8701G>T (p.Asp2901Tyr)
c.8647G>T (p.Asp2883Tyr)
c.8617G>T (p.Asp2873Tyr)
c.8572G>T (p.Asp2858Tyr)
c.8167G>T (p.Asp2723Tyr)
c.7525G>T (p.Asp2509Tyr)
c.5035G>T (p.Asp1679Tyr)
10g.71807720A>CCA377131711CDH23c.8513A>C (p.Asp2838Ala)
c.2446A>C (n.2446A>C)
c.2110A>C (n.2110A>C)
c.8528A>C (p.Asp2843Ala)
c.1793A>C (p.Asp598Ala)
n.2049A>C
c.8708A>C (p.Asp2903Ala)
c.8642A>C (p.Asp2881Ala)
c.8705A>C (p.Asp2902Ala)
c.8702A>C (p.Asp2901Ala)
c.8648A>C (p.Asp2883Ala)
c.8618A>C (p.Asp2873Ala)
c.8573A>C (p.Asp2858Ala)
c.8168A>C (p.Asp2723Ala)
c.7526A>C (p.Asp2509Ala)
c.5036A>C (p.Asp1679Ala)
10g.71807720A>GCA377131712CDH23c.8513A>G (p.Asp2838Gly)
c.2446A>G (n.2446A>G)
c.2110A>G (n.2110A>G)
c.8528A>G (p.Asp2843Gly)
c.1793A>G (p.Asp598Gly)
n.2049A>G
c.8708A>G (p.Asp2903Gly)
c.8642A>G (p.Asp2881Gly)
c.8705A>G (p.Asp2902Gly)
c.8702A>G (p.Asp2901Gly)
c.8648A>G (p.Asp2883Gly)
c.8618A>G (p.Asp2873Gly)
c.8573A>G (p.Asp2858Gly)
c.8168A>G (p.Asp2723Gly)
c.7526A>G (p.Asp2509Gly)
c.5036A>G (p.Asp1679Gly)
10g.71807720A>TCA377131709CDH23c.8513A>T (p.Asp2838Val)
c.2446A>T (n.2446A>T)
c.2110A>T (n.2110A>T)
c.8528A>T (p.Asp2843Val)
c.1793A>T (p.Asp598Val)
n.2049A>T
c.8708A>T (p.Asp2903Val)
c.8642A>T (p.Asp2881Val)
c.8705A>T (p.Asp2902Val)
c.8702A>T (p.Asp2901Val)
c.8648A>T (p.Asp2883Val)
c.8618A>T (p.Asp2873Val)
c.8573A>T (p.Asp2858Val)
c.8168A>T (p.Asp2723Val)
c.7526A>T (p.Asp2509Val)
c.5036A>T (p.Asp1679Val)
10g.71807720_71807723delinsACATCA1918886730CDH23c.8513_8516delinsACAT (p.Asp2838=)
c.2446_2449delinsACAT (n.2446_2449delinsACAT)
c.2110_2113delinsACAT (n.2110_2113delinsACAT)
c.8528_8531delinsACAT (p.Asp2843=)
c.1793_1796delinsACAT (p.Asp598=)
n.2049_2052delinsACAT
c.8708_8711delinsACAT (p.Asp2903=)
c.8642_8645delinsACAT (p.Asp2881=)
c.8705_8708delinsACAT (p.Asp2902=)
c.8702_8705delinsACAT (p.Asp2901=)
c.8648_8651delinsACAT (p.Asp2883=)
c.8618_8621delinsACAT (p.Asp2873=)
c.8573_8576delinsACAT (p.Asp2858=)
c.8168_8171delinsACAT (p.Asp2723=)
c.7526_7529delinsACAT (p.Asp2509=)
c.5036_5039delinsACAT (p.Asp1679=)
10g.71807721C>ACA377131714CDH23c.8514C>A (p.Asp2838Glu)
c.2447C>A (n.2447C>A)
c.2111C>A (n.2111C>A)
c.8529C>A (p.Asp2843Glu)
c.1794C>A (p.Asp598Glu)
n.2050C>A
c.8709C>A (p.Asp2903Glu)
c.8643C>A (p.Asp2881Glu)
c.8706C>A (p.Asp2902Glu)
c.8703C>A (p.Asp2901Glu)
c.8649C>A (p.Asp2883Glu)
c.8619C>A (p.Asp2873Glu)
c.8574C>A (p.Asp2858Glu)
c.8169C>A (p.Asp2723Glu)
c.7527C>A (p.Asp2509Glu)
c.5037C>A (p.Asp1679Glu)
10g.71807721C>GCA377131717CDH23c.8514C>G (p.Asp2838Glu)
c.2447C>G (n.2447C>G)
c.2111C>G (n.2111C>G)
c.8529C>G (p.Asp2843Glu)
c.1794C>G (p.Asp598Glu)
n.2050C>G
c.8709C>G (p.Asp2903Glu)
c.8643C>G (p.Asp2881Glu)
c.8706C>G (p.Asp2902Glu)
c.8703C>G (p.Asp2901Glu)
c.8649C>G (p.Asp2883Glu)
c.8619C>G (p.Asp2873Glu)
c.8574C>G (p.Asp2858Glu)
c.8169C>G (p.Asp2723Glu)
c.7527C>G (p.Asp2509Glu)
c.5037C>G (p.Asp1679Glu)
10g.71807721C>TCA470282618CDH23c.8514C>T (p.Asp2838=)
c.2447C>T (n.2447C>T)
c.2111C>T (n.2111C>T)
c.8529C>T (p.Asp2843=)
c.1794C>T (p.Asp598=)
n.2050C>T
c.8709C>T (p.Asp2903=)
c.8643C>T (p.Asp2881=)
c.8706C>T (p.Asp2902=)
c.8703C>T (p.Asp2901=)
c.8649C>T (p.Asp2883=)
c.8619C>T (p.Asp2873=)
c.8574C>T (p.Asp2858=)
c.8169C>T (p.Asp2723=)
c.7527C>T (p.Asp2509=)
c.5037C>T (p.Asp1679=)
 gnomAD v3 gnomAD v4
10g.71807723_71807725delCA5546669CDH23c.8516_8518del (p.Ile2839del)
c.2449_2451del (n.2449_2451del)
c.2113_2115del (n.2113_2115del)
c.8531_8533del (p.Ile2844del)
c.1796_1798del (p.Ile599del)
n.2052_2054del
c.8711_8713del (p.Ile2904del)
c.8645_8647del (p.Ile2882del)
c.8708_8710del (p.Ile2903del)
c.8705_8707del (p.Ile2902del)
c.8651_8653del (p.Ile2884del)
c.8621_8623del (p.Ile2874del)
c.8576_8578del (p.Ile2859del)
c.8171_8173del (p.Ile2724del)
c.7529_7531del (p.Ile2510del)
c.5039_5041del (p.Ile1680del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71807722A>CCA377131719CDH23c.8515A>C (p.Ile2839Leu)
c.2448A>C (n.2448A>C)
c.2112A>C (n.2112A>C)
c.8530A>C (p.Ile2844Leu)
c.1795A>C (p.Ile599Leu)
n.2051A>C
c.8710A>C (p.Ile2904Leu)
c.8644A>C (p.Ile2882Leu)
c.8707A>C (p.Ile2903Leu)
c.8704A>C (p.Ile2902Leu)
c.8650A>C (p.Ile2884Leu)
c.8620A>C (p.Ile2874Leu)
c.8575A>C (p.Ile2859Leu)
c.8170A>C (p.Ile2724Leu)
c.7528A>C (p.Ile2510Leu)
c.5038A>C (p.Ile1680Leu)
10g.71807722A>GCA377131721CDH23c.8515A>G (p.Ile2839Val)
c.2448A>G (n.2448A>G)
c.2112A>G (n.2112A>G)
c.8530A>G (p.Ile2844Val)
c.1795A>G (p.Ile599Val)
n.2051A>G
c.8710A>G (p.Ile2904Val)
c.8644A>G (p.Ile2882Val)
c.8707A>G (p.Ile2903Val)
c.8704A>G (p.Ile2902Val)
c.8650A>G (p.Ile2884Val)
c.8620A>G (p.Ile2874Val)
c.8575A>G (p.Ile2859Val)
c.8170A>G (p.Ile2724Val)
c.7528A>G (p.Ile2510Val)
c.5038A>G (p.Ile1680Val)
10g.71807722A>TCA377131722CDH23c.8515A>T (p.Ile2839Phe)
c.2448A>T (n.2448A>T)
c.2112A>T (n.2112A>T)
c.8530A>T (p.Ile2844Phe)
c.1795A>T (p.Ile599Phe)
n.2051A>T
c.8710A>T (p.Ile2904Phe)
c.8644A>T (p.Ile2882Phe)
c.8707A>T (p.Ile2903Phe)
c.8704A>T (p.Ile2902Phe)
c.8650A>T (p.Ile2884Phe)
c.8620A>T (p.Ile2874Phe)
c.8575A>T (p.Ile2859Phe)
c.8170A>T (p.Ile2724Phe)
c.7528A>T (p.Ile2510Phe)
c.5038A>T (p.Ile1680Phe)
10g.71807723T>ACA377131724CDH23c.8516T>A (p.Ile2839Asn)
c.2449T>A (n.2449T>A)
c.2113T>A (n.2113T>A)
c.8531T>A (p.Ile2844Asn)
c.1796T>A (p.Ile599Asn)
n.2052T>A
c.8711T>A (p.Ile2904Asn)
c.8645T>A (p.Ile2882Asn)
c.8708T>A (p.Ile2903Asn)
c.8705T>A (p.Ile2902Asn)
c.8651T>A (p.Ile2884Asn)
c.8621T>A (p.Ile2874Asn)
c.8576T>A (p.Ile2859Asn)
c.8171T>A (p.Ile2724Asn)
c.7529T>A (p.Ile2510Asn)
c.5039T>A (p.Ile1680Asn)
10g.71807723T>CCA377131726CDH23c.8516T>C (p.Ile2839Thr)
c.2449T>C (n.2449T>C)
c.2113T>C (n.2113T>C)
c.8531T>C (p.Ile2844Thr)
c.1796T>C (p.Ile599Thr)
n.2052T>C
c.8711T>C (p.Ile2904Thr)
c.8645T>C (p.Ile2882Thr)
c.8708T>C (p.Ile2903Thr)
c.8705T>C (p.Ile2902Thr)
c.8651T>C (p.Ile2884Thr)
c.8621T>C (p.Ile2874Thr)
c.8576T>C (p.Ile2859Thr)
c.8171T>C (p.Ile2724Thr)
c.7529T>C (p.Ile2510Thr)
c.5039T>C (p.Ile1680Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71807723T>GCA377131728CDH23c.8516T>G (p.Ile2839Ser)
c.2449T>G (n.2449T>G)
c.2113T>G (n.2113T>G)
c.8531T>G (p.Ile2844Ser)
c.1796T>G (p.Ile599Ser)
n.2052T>G
c.8711T>G (p.Ile2904Ser)
c.8645T>G (p.Ile2882Ser)
c.8708T>G (p.Ile2903Ser)
c.8705T>G (p.Ile2902Ser)
c.8651T>G (p.Ile2884Ser)
c.8621T>G (p.Ile2874Ser)
c.8576T>G (p.Ile2859Ser)
c.8171T>G (p.Ile2724Ser)
c.7529T>G (p.Ile2510Ser)
c.5039T>G (p.Ile1680Ser)
10g.71807723T=CA1918886735CDH23c.8516T= (p.Ile2839=)
c.2449T= (n.2449T=)
c.2113T= (n.2113T=)
c.8531T= (p.Ile2844=)
c.1796T= (p.Ile599=)
n.2052T=
c.8711T= (p.Ile2904=)
c.8645T= (p.Ile2882=)
c.8708T= (p.Ile2903=)
c.8705T= (p.Ile2902=)
c.8651T= (p.Ile2884=)
c.8621T= (p.Ile2874=)
c.8576T= (p.Ile2859=)
c.8171T= (p.Ile2724=)
c.7529T= (p.Ile2510=)
c.5039T= (p.Ile1680=)

Number of alleles fetched