Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.140978973_140978974delCA2556917758PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2458_2459del (p.Arg820LeufsTer29)
c.2590_2591del (p.Arg864LeufsTer29)
c.2419_2420del (p.Arg807LeufsTer29)
c.2413_2414del (p.Arg805LeufsTer29)
c.2392_2393del (p.Arg798LeufsTer29)
c.2416_2417del (p.Arg806LeufsTer29)
c.2380_2381del (p.Arg794LeufsTer29)
c.2377_2378del (p.Arg793LeufsTer29)
c.2410_2411del (p.Arg804LeufsTer29)
c.368_369del
c.1627_1628del (p.Arg543LeufsTer29)
c.1624_1625del (p.Arg542LeufsTer29)
c.302_303del
5g.140978974G>ACA3454461PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2459G>A (p.Arg820His)
c.2591G>A (p.Arg864His)
c.2420G>A (p.Arg807His)
c.2414G>A (p.Arg805His)
c.2393G>A (p.Arg798His)
c.2417G>A (p.Arg806His)
c.2381G>A (p.Arg794His)
c.2378G>A (p.Arg793His)
c.2411G>A (p.Arg804His)
c.369G>A
c.1628G>A (p.Arg543His)
c.1625G>A (p.Arg542His)
c.303G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.140978974G>CCA361259657PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2459G>C (p.Arg820Pro)
c.2591G>C (p.Arg864Pro)
c.2420G>C (p.Arg807Pro)
c.2414G>C (p.Arg805Pro)
c.2393G>C (p.Arg798Pro)
c.2417G>C (p.Arg806Pro)
c.2381G>C (p.Arg794Pro)
c.2378G>C (p.Arg793Pro)
c.2411G>C (p.Arg804Pro)
c.369G>C
c.1628G>C (p.Arg543Pro)
c.1625G>C (p.Arg542Pro)
c.303G>C
5g.140978974G=CA1586994803PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2459G= (p.Arg820=)
c.2591G= (p.Arg864=)
c.2420G= (p.Arg807=)
c.2414G= (p.Arg805=)
c.2393G= (p.Arg798=)
c.2417G= (p.Arg806=)
c.2381G= (p.Arg794=)
c.2378G= (p.Arg793=)
c.2411G= (p.Arg804=)
c.369G=
c.1628G= (p.Arg543=)
c.1625G= (p.Arg542=)
c.303G=
5g.140978974G>TCA361259660PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2459G>T (p.Arg820Leu)
c.2591G>T (p.Arg864Leu)
c.2420G>T (p.Arg807Leu)
c.2414G>T (p.Arg805Leu)
c.2393G>T (p.Arg798Leu)
c.2417G>T (p.Arg806Leu)
c.2381G>T (p.Arg794Leu)
c.2378G>T (p.Arg793Leu)
c.2411G>T (p.Arg804Leu)
c.369G>T
c.1628G>T (p.Arg543Leu)
c.1625G>T (p.Arg542Leu)
c.303G>T
 gnomAD v4
5g.140978975T>ACA446641964PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2460T>A (p.Arg820=)
c.2592T>A (p.Arg864=)
c.2421T>A (p.Arg807=)
c.2415T>A (p.Arg805=)
c.2394T>A (p.Arg798=)
c.2418T>A (p.Arg806=)
c.2382T>A (p.Arg794=)
c.2379T>A (p.Arg793=)
c.2412T>A (p.Arg804=)
c.370T>A
c.1629T>A (p.Arg543=)
c.1626T>A (p.Arg542=)
c.304T>A
5g.140978975T>CCA446641967PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2460T>C (p.Arg820=)
c.2592T>C (p.Arg864=)
c.2421T>C (p.Arg807=)
c.2415T>C (p.Arg805=)
c.2394T>C (p.Arg798=)
c.2418T>C (p.Arg806=)
c.2382T>C (p.Arg794=)
c.2379T>C (p.Arg793=)
c.2412T>C (p.Arg804=)
c.370T>C
c.1629T>C (p.Arg543=)
c.1626T>C (p.Arg542=)
c.304T>C
5g.140978975T>GCA446641969PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2460T>G (p.Arg820=)
c.2592T>G (p.Arg864=)
c.2421T>G (p.Arg807=)
c.2415T>G (p.Arg805=)
c.2394T>G (p.Arg798=)
c.2418T>G (p.Arg806=)
c.2382T>G (p.Arg794=)
c.2379T>G (p.Arg793=)
c.2412T>G (p.Arg804=)
c.370T>G
c.1629T>G (p.Arg543=)
c.1626T>G (p.Arg542=)
c.304T>G
5g.140978976T>ACA361259663PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2461T>A (p.Tyr821Asn)
c.2593T>A (p.Tyr865Asn)
c.2422T>A (p.Tyr808Asn)
c.2416T>A (p.Tyr806Asn)
c.2395T>A (p.Tyr799Asn)
c.2419T>A (p.Tyr807Asn)
c.2383T>A (p.Tyr795Asn)
c.2380T>A (p.Tyr794Asn)
c.2413T>A (p.Tyr805Asn)
c.371T>A
c.1630T>A (p.Tyr544Asn)
c.1627T>A (p.Tyr543Asn)
c.305T>A
5g.140978976T>CCA361259665PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2461T>C (p.Tyr821His)
c.2593T>C (p.Tyr865His)
c.2422T>C (p.Tyr808His)
c.2416T>C (p.Tyr806His)
c.2395T>C (p.Tyr799His)
c.2419T>C (p.Tyr807His)
c.2383T>C (p.Tyr795His)
c.2380T>C (p.Tyr794His)
c.2413T>C (p.Tyr805His)
c.371T>C
c.1630T>C (p.Tyr544His)
c.1627T>C (p.Tyr543His)
c.305T>C
5g.140978976T>GCA361259666PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2461T>G (p.Tyr821Asp)
c.2593T>G (p.Tyr865Asp)
c.2422T>G (p.Tyr808Asp)
c.2416T>G (p.Tyr806Asp)
c.2395T>G (p.Tyr799Asp)
c.2419T>G (p.Tyr807Asp)
c.2383T>G (p.Tyr795Asp)
c.2380T>G (p.Tyr794Asp)
c.2413T>G (p.Tyr805Asp)
c.371T>G
c.1630T>G (p.Tyr544Asp)
c.1627T>G (p.Tyr543Asp)
c.305T>G
5g.140978977A>CCA361259677PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2462A>C (p.Tyr821Ser)
c.2594A>C (p.Tyr865Ser)
c.2423A>C (p.Tyr808Ser)
c.2417A>C (p.Tyr806Ser)
c.2396A>C (p.Tyr799Ser)
c.2420A>C (p.Tyr807Ser)
c.2384A>C (p.Tyr795Ser)
c.2381A>C (p.Tyr794Ser)
c.2414A>C (p.Tyr805Ser)
c.372A>C
c.1631A>C (p.Tyr544Ser)
c.1628A>C (p.Tyr543Ser)
c.306A>C
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
5g.140978977A>GCA361259673PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2462A>G (p.Tyr821Cys)
c.2594A>G (p.Tyr865Cys)
c.2423A>G (p.Tyr808Cys)
c.2417A>G (p.Tyr806Cys)
c.2396A>G (p.Tyr799Cys)
c.2420A>G (p.Tyr807Cys)
c.2384A>G (p.Tyr795Cys)
c.2381A>G (p.Tyr794Cys)
c.2414A>G (p.Tyr805Cys)
c.372A>G
c.1631A>G (p.Tyr544Cys)
c.1628A>G (p.Tyr543Cys)
c.306A>G
5g.140978977A>TCA361259669PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2462A>T (p.Tyr821Phe)
c.2594A>T (p.Tyr865Phe)
c.2423A>T (p.Tyr808Phe)
c.2417A>T (p.Tyr806Phe)
c.2396A>T (p.Tyr799Phe)
c.2420A>T (p.Tyr807Phe)
c.2384A>T (p.Tyr795Phe)
c.2381A>T (p.Tyr794Phe)
c.2414A>T (p.Tyr805Phe)
c.372A>T
c.1631A>T (p.Tyr544Phe)
c.1628A>T (p.Tyr543Phe)
c.306A>T
5g.140978978C>ACA361259679PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2463C>A (p.Tyr821Ter)
c.2595C>A (p.Tyr865Ter)
c.2424C>A (p.Tyr808Ter)
c.2418C>A (p.Tyr806Ter)
c.2397C>A (p.Tyr799Ter)
c.2421C>A (p.Tyr807Ter)
c.2385C>A (p.Tyr795Ter)
c.2382C>A (p.Tyr794Ter)
c.2415C>A (p.Tyr805Ter)
c.373C>A
c.1632C>A (p.Tyr544Ter)
c.1629C>A (p.Tyr543Ter)
c.307C>A
5g.140978978C>GCA361259678PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2463C>G (p.Tyr821Ter)
c.2595C>G (p.Tyr865Ter)
c.2424C>G (p.Tyr808Ter)
c.2418C>G (p.Tyr806Ter)
c.2397C>G (p.Tyr799Ter)
c.2421C>G (p.Tyr807Ter)
c.2385C>G (p.Tyr795Ter)
c.2382C>G (p.Tyr794Ter)
c.2415C>G (p.Tyr805Ter)
c.373C>G
c.1632C>G (p.Tyr544Ter)
c.1629C>G (p.Tyr543Ter)
c.307C>G
5g.140978978C>TCA446641987PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2463C>T (p.Tyr821=)
c.2595C>T (p.Tyr865=)
c.2424C>T (p.Tyr808=)
c.2418C>T (p.Tyr806=)
c.2397C>T (p.Tyr799=)
c.2421C>T (p.Tyr807=)
c.2385C>T (p.Tyr795=)
c.2382C>T (p.Tyr794=)
c.2415C>T (p.Tyr805=)
c.373C>T
c.1632C>T (p.Tyr544=)
c.1629C>T (p.Tyr543=)
c.307C>T
 gnomAD v4
5g.140978979T>ACA361259687PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2464T>A (p.Ser822Thr)
c.2596T>A (p.Ser866Thr)
c.2425T>A (p.Ser809Thr)
c.2419T>A (p.Ser807Thr)
c.2398T>A (p.Ser800Thr)
c.2422T>A (p.Ser808Thr)
c.2386T>A (p.Ser796Thr)
c.2383T>A (p.Ser795Thr)
c.2416T>A (p.Ser806Thr)
c.374T>A
c.1633T>A (p.Ser545Thr)
c.1630T>A (p.Ser544Thr)
c.308T>A
5g.140978979T>CCA361259683PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2464T>C (p.Ser822Pro)
c.2596T>C (p.Ser866Pro)
c.2425T>C (p.Ser809Pro)
c.2419T>C (p.Ser807Pro)
c.2398T>C (p.Ser800Pro)
c.2422T>C (p.Ser808Pro)
c.2386T>C (p.Ser796Pro)
c.2383T>C (p.Ser795Pro)
c.2416T>C (p.Ser806Pro)
c.374T>C
c.1633T>C (p.Ser545Pro)
c.1630T>C (p.Ser544Pro)
c.308T>C
5g.140978979T>GCA361259685PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2464T>G (p.Ser822Ala)
c.2596T>G (p.Ser866Ala)
c.2425T>G (p.Ser809Ala)
c.2419T>G (p.Ser807Ala)
c.2398T>G (p.Ser800Ala)
c.2422T>G (p.Ser808Ala)
c.2386T>G (p.Ser796Ala)
c.2383T>G (p.Ser795Ala)
c.2416T>G (p.Ser806Ala)
c.374T>G
c.1633T>G (p.Ser545Ala)
c.1630T>G (p.Ser544Ala)
c.308T>G
5g.140978980C>ACA361259690PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2465C>A (p.Ser822Tyr)
c.2597C>A (p.Ser866Tyr)
c.2426C>A (p.Ser809Tyr)
c.2420C>A (p.Ser807Tyr)
c.2399C>A (p.Ser800Tyr)
c.2423C>A (p.Ser808Tyr)
c.2387C>A (p.Ser796Tyr)
c.2384C>A (p.Ser795Tyr)
c.2417C>A (p.Ser806Tyr)
c.375C>A
c.1634C>A (p.Ser545Tyr)
c.1631C>A (p.Ser544Tyr)
c.309C>A
5g.140978980C=CA1586994810PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2465C= (p.Ser822=)
c.2597C= (p.Ser866=)
c.2426C= (p.Ser809=)
c.2420C= (p.Ser807=)
c.2399C= (p.Ser800=)
c.2423C= (p.Ser808=)
c.2387C= (p.Ser796=)
c.2384C= (p.Ser795=)
c.2417C= (p.Ser806=)
c.375C=
c.1634C= (p.Ser545=)
c.1631C= (p.Ser544=)
c.309C=
5g.140978980C>GCA361259692PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2465C>G (p.Ser822Cys)
c.2597C>G (p.Ser866Cys)
c.2426C>G (p.Ser809Cys)
c.2420C>G (p.Ser807Cys)
c.2399C>G (p.Ser800Cys)
c.2423C>G (p.Ser808Cys)
c.2387C>G (p.Ser796Cys)
c.2384C>G (p.Ser795Cys)
c.2417C>G (p.Ser806Cys)
c.375C>G
c.1634C>G (p.Ser545Cys)
c.1631C>G (p.Ser544Cys)
c.309C>G
5g.140978980C>TCA361259693PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2465C>T (p.Ser822Phe)
c.2597C>T (p.Ser866Phe)
c.2426C>T (p.Ser809Phe)
c.2420C>T (p.Ser807Phe)
c.2399C>T (p.Ser800Phe)
c.2423C>T (p.Ser808Phe)
c.2387C>T (p.Ser796Phe)
c.2384C>T (p.Ser795Phe)
c.2417C>T (p.Ser806Phe)
c.375C>T
c.1634C>T (p.Ser545Phe)
c.1631C>T (p.Ser544Phe)
c.309C>T
 dbSNP
5g.140978981T>ACA446642002PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2466T>A (p.Ser822=)
c.2598T>A (p.Ser866=)
c.2427T>A (p.Ser809=)
c.2421T>A (p.Ser807=)
c.2400T>A (p.Ser800=)
c.2424T>A (p.Ser808=)
c.2388T>A (p.Ser796=)
c.2385T>A (p.Ser795=)
c.2418T>A (p.Ser806=)
c.376T>A
c.1635T>A (p.Ser545=)
c.1632T>A (p.Ser544=)
c.310T>A
5g.140978981T>CCA446642005PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2466T>C (p.Ser822=)
c.2598T>C (p.Ser866=)
c.2427T>C (p.Ser809=)
c.2421T>C (p.Ser807=)
c.2400T>C (p.Ser800=)
c.2424T>C (p.Ser808=)
c.2388T>C (p.Ser796=)
c.2385T>C (p.Ser795=)
c.2418T>C (p.Ser806=)
c.376T>C
c.1635T>C (p.Ser545=)
c.1632T>C (p.Ser544=)
c.310T>C
5g.140978981T>GCA3454462PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2466T>G (p.Ser822=)
c.2598T>G (p.Ser866=)
c.2427T>G (p.Ser809=)
c.2421T>G (p.Ser807=)
c.2400T>G (p.Ser800=)
c.2424T>G (p.Ser808=)
c.2388T>G (p.Ser796=)
c.2385T>G (p.Ser795=)
c.2418T>G (p.Ser806=)
c.376T>G
c.1635T>G (p.Ser545=)
c.1632T>G (p.Ser544=)
c.310T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.140978981T=CA1586994812PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2466T= (p.Ser822=)
c.2598T= (p.Ser866=)
c.2427T= (p.Ser809=)
c.2421T= (p.Ser807=)
c.2400T= (p.Ser800=)
c.2424T= (p.Ser808=)
c.2388T= (p.Ser796=)
c.2385T= (p.Ser795=)
c.2418T= (p.Ser806=)
c.376T=
c.1635T= (p.Ser545=)
c.1632T= (p.Ser544=)
c.310T=
5g.140978982G>ACA361259695PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2467G>A (p.Ala823Thr)
c.2599G>A (p.Ala867Thr)
c.2428G>A (p.Ala810Thr)
c.2422G>A (p.Ala808Thr)
c.2401G>A (p.Ala801Thr)
c.2425G>A (p.Ala809Thr)
c.2389G>A (p.Ala797Thr)
c.2386G>A (p.Ala796Thr)
c.2419G>A (p.Ala807Thr)
c.377G>A
c.1636G>A (p.Ala546Thr)
c.1633G>A (p.Ala545Thr)
c.311G>A
5g.140978982G>CCA361259696PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2467G>C (p.Ala823Pro)
c.2599G>C (p.Ala867Pro)
c.2428G>C (p.Ala810Pro)
c.2422G>C (p.Ala808Pro)
c.2401G>C (p.Ala801Pro)
c.2425G>C (p.Ala809Pro)
c.2389G>C (p.Ala797Pro)
c.2386G>C (p.Ala796Pro)
c.2419G>C (p.Ala807Pro)
c.377G>C
c.1636G>C (p.Ala546Pro)
c.1633G>C (p.Ala545Pro)
c.311G>C
5g.140978982G>TCA361259697PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2467G>T (p.Ala823Ser)
c.2599G>T (p.Ala867Ser)
c.2428G>T (p.Ala810Ser)
c.2422G>T (p.Ala808Ser)
c.2401G>T (p.Ala801Ser)
c.2425G>T (p.Ala809Ser)
c.2389G>T (p.Ala797Ser)
c.2386G>T (p.Ala796Ser)
c.2419G>T (p.Ala807Ser)
c.377G>T
c.1636G>T (p.Ala546Ser)
c.1633G>T (p.Ala545Ser)
c.311G>T
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
5g.140978983C>ACA3454463PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2468C>A (p.Ala823Asp)
c.2600C>A (p.Ala867Asp)
c.2429C>A (p.Ala810Asp)
c.2423C>A (p.Ala808Asp)
c.2402C>A (p.Ala801Asp)
c.2426C>A (p.Ala809Asp)
c.2390C>A (p.Ala797Asp)
c.2387C>A (p.Ala796Asp)
c.2420C>A (p.Ala807Asp)
c.378C>A
c.1637C>A (p.Ala546Asp)
c.1634C>A (p.Ala545Asp)
c.312C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.140978983C=CA1586994815PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2468C= (p.Ala823=)
c.2600C= (p.Ala867=)
c.2429C= (p.Ala810=)
c.2423C= (p.Ala808=)
c.2402C= (p.Ala801=)
c.2426C= (p.Ala809=)
c.2390C= (p.Ala797=)
c.2387C= (p.Ala796=)
c.2420C= (p.Ala807=)
c.378C=
c.1637C= (p.Ala546=)
c.1634C= (p.Ala545=)
c.312C=
5g.140978983C>GCA361259700PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2468C>G (p.Ala823Gly)
c.2600C>G (p.Ala867Gly)
c.2429C>G (p.Ala810Gly)
c.2423C>G (p.Ala808Gly)
c.2402C>G (p.Ala801Gly)
c.2426C>G (p.Ala809Gly)
c.2390C>G (p.Ala797Gly)
c.2387C>G (p.Ala796Gly)
c.2420C>G (p.Ala807Gly)
c.378C>G
c.1637C>G (p.Ala546Gly)
c.1634C>G (p.Ala545Gly)
c.312C>G
5g.140978983C>TCA361259702PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2468C>T (p.Ala823Val)
c.2600C>T (p.Ala867Val)
c.2429C>T (p.Ala810Val)
c.2423C>T (p.Ala808Val)
c.2402C>T (p.Ala801Val)
c.2426C>T (p.Ala809Val)
c.2390C>T (p.Ala797Val)
c.2387C>T (p.Ala796Val)
c.2420C>T (p.Ala807Val)
c.378C>T
c.1637C>T (p.Ala546Val)
c.1634C>T (p.Ala545Val)
c.312C>T
5g.140978984C>ACA446642017PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2469C>A (p.Ala823=)
c.2601C>A (p.Ala867=)
c.2430C>A (p.Ala810=)
c.2424C>A (p.Ala808=)
c.2403C>A (p.Ala801=)
c.2427C>A (p.Ala809=)
c.2391C>A (p.Ala797=)
c.2388C>A (p.Ala796=)
c.2421C>A (p.Ala807=)
c.379C>A
c.1638C>A (p.Ala546=)
c.1635C>A (p.Ala545=)
c.313C>A
5g.140978984C>GCA446642019PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2469C>G (p.Ala823=)
c.2601C>G (p.Ala867=)
c.2430C>G (p.Ala810=)
c.2424C>G (p.Ala808=)
c.2403C>G (p.Ala801=)
c.2427C>G (p.Ala809=)
c.2391C>G (p.Ala797=)
c.2388C>G (p.Ala796=)
c.2421C>G (p.Ala807=)
c.379C>G
c.1638C>G (p.Ala546=)
c.1635C>G (p.Ala545=)
c.313C>G
5g.140978984C>TCA446642022PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2469C>T (p.Ala823=)
c.2601C>T (p.Ala867=)
c.2430C>T (p.Ala810=)
c.2424C>T (p.Ala808=)
c.2403C>T (p.Ala801=)
c.2427C>T (p.Ala809=)
c.2391C>T (p.Ala797=)
c.2388C>T (p.Ala796=)
c.2421C>T (p.Ala807=)
c.379C>T
c.1638C>T (p.Ala546=)
c.1635C>T (p.Ala545=)
c.313C>T
5g.140978985T>ACA361259711PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2470T>A (p.Ser824Thr)
c.2602T>A (p.Ser868Thr)
c.2431T>A (p.Ser811Thr)
c.2425T>A (p.Ser809Thr)
c.2404T>A (p.Ser802Thr)
c.2428T>A (p.Ser810Thr)
c.2392T>A (p.Ser798Thr)
c.2389T>A (p.Ser797Thr)
c.2422T>A (p.Ser808Thr)
c.380T>A
c.1639T>A (p.Ser547Thr)
c.1636T>A (p.Ser546Thr)
c.314T>A
5g.140978985T>CCA361259708PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2470T>C (p.Ser824Pro)
c.2602T>C (p.Ser868Pro)
c.2431T>C (p.Ser811Pro)
c.2425T>C (p.Ser809Pro)
c.2404T>C (p.Ser802Pro)
c.2428T>C (p.Ser810Pro)
c.2392T>C (p.Ser798Pro)
c.2389T>C (p.Ser797Pro)
c.2422T>C (p.Ser808Pro)
c.380T>C
c.1639T>C (p.Ser547Pro)
c.1636T>C (p.Ser546Pro)
c.314T>C
5g.140978985T>GCA361259704PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2470T>G (p.Ser824Ala)
c.2602T>G (p.Ser868Ala)
c.2431T>G (p.Ser811Ala)
c.2425T>G (p.Ser809Ala)
c.2404T>G (p.Ser802Ala)
c.2428T>G (p.Ser810Ala)
c.2392T>G (p.Ser798Ala)
c.2389T>G (p.Ser797Ala)
c.2422T>G (p.Ser808Ala)
c.380T>G
c.1639T>G (p.Ser547Ala)
c.1636T>G (p.Ser546Ala)
c.314T>G
5g.140978986C>ACA361259713PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2471C>A (p.Ser824Tyr)
c.2603C>A (p.Ser868Tyr)
c.2432C>A (p.Ser811Tyr)
c.2426C>A (p.Ser809Tyr)
c.2405C>A (p.Ser802Tyr)
c.2429C>A (p.Ser810Tyr)
c.2393C>A (p.Ser798Tyr)
c.2390C>A (p.Ser797Tyr)
c.2423C>A (p.Ser808Tyr)
c.381C>A
c.1640C>A (p.Ser547Tyr)
c.1637C>A (p.Ser546Tyr)
c.315C>A
 gnomAD v4
5g.140978986C=CA1586994821PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2471C= (p.Ser824=)
c.2603C= (p.Ser868=)
c.2432C= (p.Ser811=)
c.2426C= (p.Ser809=)
c.2405C= (p.Ser802=)
c.2429C= (p.Ser810=)
c.2393C= (p.Ser798=)
c.2390C= (p.Ser797=)
c.2423C= (p.Ser808=)
c.381C=
c.1640C= (p.Ser547=)
c.1637C= (p.Ser546=)
c.315C=
5g.140978986C>GCA361259716PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2471C>G (p.Ser824Cys)
c.2603C>G (p.Ser868Cys)
c.2432C>G (p.Ser811Cys)
c.2426C>G (p.Ser809Cys)
c.2405C>G (p.Ser802Cys)
c.2429C>G (p.Ser810Cys)
c.2393C>G (p.Ser798Cys)
c.2390C>G (p.Ser797Cys)
c.2423C>G (p.Ser808Cys)
c.381C>G
c.1640C>G (p.Ser547Cys)
c.1637C>G (p.Ser546Cys)
c.315C>G
5g.140978986C>TCA3454464PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2471C>T (p.Ser824Phe)
c.2603C>T (p.Ser868Phe)
c.2432C>T (p.Ser811Phe)
c.2426C>T (p.Ser809Phe)
c.2405C>T (p.Ser802Phe)
c.2429C>T (p.Ser810Phe)
c.2393C>T (p.Ser798Phe)
c.2390C>T (p.Ser797Phe)
c.2423C>T (p.Ser808Phe)
c.381C>T
c.1640C>T (p.Ser547Phe)
c.1637C>T (p.Ser546Phe)
c.315C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.140978987C>ACA446642033PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2472C>A (p.Ser824=)
c.2604C>A (p.Ser868=)
c.2433C>A (p.Ser811=)
c.2427C>A (p.Ser809=)
c.2406C>A (p.Ser802=)
c.2430C>A (p.Ser810=)
c.2394C>A (p.Ser798=)
c.2391C>A (p.Ser797=)
c.2424C>A (p.Ser808=)
c.382C>A
c.1641C>A (p.Ser547=)
c.1638C>A (p.Ser546=)
c.316C>A
5g.140978987C>GCA446642037PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2472C>G (p.Ser824=)
c.2604C>G (p.Ser868=)
c.2433C>G (p.Ser811=)
c.2427C>G (p.Ser809=)
c.2406C>G (p.Ser802=)
c.2430C>G (p.Ser810=)
c.2394C>G (p.Ser798=)
c.2391C>G (p.Ser797=)
c.2424C>G (p.Ser808=)
c.382C>G
c.1641C>G (p.Ser547=)
c.1638C>G (p.Ser546=)
c.316C>G
5g.140978987C>TCA446642034PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2472C>T (p.Ser824=)
c.2604C>T (p.Ser868=)
c.2433C>T (p.Ser811=)
c.2427C>T (p.Ser809=)
c.2406C>T (p.Ser802=)
c.2430C>T (p.Ser810=)
c.2394C>T (p.Ser798=)
c.2391C>T (p.Ser797=)
c.2424C>T (p.Ser808=)
c.382C>T
c.1641C>T (p.Ser547=)
c.1638C>T (p.Ser546=)
c.316C>T
 gnomAD v4
5g.140978988C>ACA361259719PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2473C>A (p.Leu825Met)
c.2605C>A (p.Leu869Met)
c.2434C>A (p.Leu812Met)
c.2428C>A (p.Leu810Met)
c.2407C>A (p.Leu803Met)
c.2431C>A (p.Leu811Met)
c.2395C>A (p.Leu799Met)
c.2392C>A (p.Leu798Met)
c.2425C>A (p.Leu809Met)
c.383C>A
c.1642C>A (p.Leu548Met)
c.1639C>A (p.Leu547Met)
c.317C>A
5g.140978988C>GCA361259721PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2473C>G (p.Leu825Val)
c.2605C>G (p.Leu869Val)
c.2434C>G (p.Leu812Val)
c.2428C>G (p.Leu810Val)
c.2407C>G (p.Leu803Val)
c.2431C>G (p.Leu811Val)
c.2395C>G (p.Leu799Val)
c.2392C>G (p.Leu798Val)
c.2425C>G (p.Leu809Val)
c.383C>G
c.1642C>G (p.Leu548Val)
c.1639C>G (p.Leu547Val)
c.317C>G
5g.140978988C>TCA446642043PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2473C>T (p.Leu825=)
c.2605C>T (p.Leu869=)
c.2434C>T (p.Leu812=)
c.2428C>T (p.Leu810=)
c.2407C>T (p.Leu803=)
c.2431C>T (p.Leu811=)
c.2395C>T (p.Leu799=)
c.2392C>T (p.Leu798=)
c.2425C>T (p.Leu809=)
c.383C>T
c.1642C>T (p.Leu548=)
c.1639C>T (p.Leu547=)
c.317C>T
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
5g.140978989T>ACA361259722PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2474T>A (p.Leu825Gln)
c.2606T>A (p.Leu869Gln)
c.2435T>A (p.Leu812Gln)
c.2429T>A (p.Leu810Gln)
c.2408T>A (p.Leu803Gln)
c.2432T>A (p.Leu811Gln)
c.2396T>A (p.Leu799Gln)
c.2393T>A (p.Leu798Gln)
c.2426T>A (p.Leu809Gln)
c.384T>A
c.1643T>A (p.Leu548Gln)
c.1640T>A (p.Leu547Gln)
c.318T>A
5g.140978989T>CCA3454465PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2474T>C (p.Leu825Pro)
c.2606T>C (p.Leu869Pro)
c.2435T>C (p.Leu812Pro)
c.2429T>C (p.Leu810Pro)
c.2408T>C (p.Leu803Pro)
c.2432T>C (p.Leu811Pro)
c.2396T>C (p.Leu799Pro)
c.2393T>C (p.Leu798Pro)
c.2426T>C (p.Leu809Pro)
c.384T>C
c.1643T>C (p.Leu548Pro)
c.1640T>C (p.Leu547Pro)
c.318T>C
 dbSNP ExAC gnomAD v2
5g.140978989T>GCA361259727PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2474T>G (p.Leu825Arg)
c.2606T>G (p.Leu869Arg)
c.2435T>G (p.Leu812Arg)
c.2429T>G (p.Leu810Arg)
c.2408T>G (p.Leu803Arg)
c.2432T>G (p.Leu811Arg)
c.2396T>G (p.Leu799Arg)
c.2393T>G (p.Leu798Arg)
c.2426T>G (p.Leu809Arg)
c.384T>G
c.1643T>G (p.Leu548Arg)
c.1640T>G (p.Leu547Arg)
c.318T>G
 gnomAD v4
5g.140978989T=CA1586994825PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2474T= (p.Leu825=)
c.2606T= (p.Leu869=)
c.2435T= (p.Leu812=)
c.2429T= (p.Leu810=)
c.2408T= (p.Leu803=)
c.2432T= (p.Leu811=)
c.2396T= (p.Leu799=)
c.2393T= (p.Leu798=)
c.2426T= (p.Leu809=)
c.384T=
c.1643T= (p.Leu548=)
c.1640T= (p.Leu547=)
c.318T=
5g.140978990G>ACA446642052PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2475G>A (p.Leu825=)
c.2607G>A (p.Leu869=)
c.2436G>A (p.Leu812=)
c.2430G>A (p.Leu810=)
c.2409G>A (p.Leu803=)
c.2433G>A (p.Leu811=)
c.2397G>A (p.Leu799=)
c.2394G>A (p.Leu798=)
c.2427G>A (p.Leu809=)
c.385G>A
c.1644G>A (p.Leu548=)
c.1641G>A (p.Leu547=)
c.319G>A
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
5g.140978990G>CCA446642054PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2475G>C (p.Leu825=)
c.2607G>C (p.Leu869=)
c.2436G>C (p.Leu812=)
c.2430G>C (p.Leu810=)
c.2409G>C (p.Leu803=)
c.2433G>C (p.Leu811=)
c.2397G>C (p.Leu799=)
c.2394G>C (p.Leu798=)
c.2427G>C (p.Leu809=)
c.385G>C
c.1644G>C (p.Leu548=)
c.1641G>C (p.Leu547=)
c.319G>C
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
5g.140978990G>TCA446642056PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2475G>T (p.Leu825=)
c.2607G>T (p.Leu869=)
c.2436G>T (p.Leu812=)
c.2430G>T (p.Leu810=)
c.2409G>T (p.Leu803=)
c.2433G>T (p.Leu811=)
c.2397G>T (p.Leu799=)
c.2394G>T (p.Leu798=)
c.2427G>T (p.Leu809=)
c.385G>T
c.1644G>T (p.Leu548=)
c.1641G>T (p.Leu547=)
c.319G>T
5g.140978991A=CA1586994828PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2476A= (p.Arg826=)
c.2608A= (p.Arg870=)
c.2437A= (p.Arg813=)
c.2431A= (p.Arg811=)
c.2410A= (p.Arg804=)
c.2434A= (p.Arg812=)
c.2398A= (p.Arg800=)
c.2395A= (p.Arg799=)
c.2428A= (p.Arg810=)
c.386A=
c.1645A= (p.Arg549=)
c.1642A= (p.Arg548=)
c.320A=
5g.140978991A>CCA446642063PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2476A>C (p.Arg826=)
c.2608A>C (p.Arg870=)
c.2437A>C (p.Arg813=)
c.2431A>C (p.Arg811=)
c.2410A>C (p.Arg804=)
c.2434A>C (p.Arg812=)
c.2398A>C (p.Arg800=)
c.2395A>C (p.Arg799=)
c.2428A>C (p.Arg810=)
c.386A>C
c.1645A>C (p.Arg549=)
c.1642A>C (p.Arg548=)
c.320A>C
 dbSNP gnomAD v4
5g.140978991A>GCA361259728PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2476A>G (p.Arg826Gly)
c.2608A>G (p.Arg870Gly)
c.2437A>G (p.Arg813Gly)
c.2431A>G (p.Arg811Gly)
c.2410A>G (p.Arg804Gly)
c.2434A>G (p.Arg812Gly)
c.2398A>G (p.Arg800Gly)
c.2395A>G (p.Arg799Gly)
c.2428A>G (p.Arg810Gly)
c.386A>G
c.1645A>G (p.Arg549Gly)
c.1642A>G (p.Arg548Gly)
c.320A>G
5g.140978991A>TCA361259730PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2476A>T (p.Arg826Ter)
c.2608A>T (p.Arg870Ter)
c.2437A>T (p.Arg813Ter)
c.2431A>T (p.Arg811Ter)
c.2410A>T (p.Arg804Ter)
c.2434A>T (p.Arg812Ter)
c.2398A>T (p.Arg800Ter)
c.2395A>T (p.Arg799Ter)
c.2428A>T (p.Arg810Ter)
c.386A>T
c.1645A>T (p.Arg549Ter)
c.1642A>T (p.Arg548Ter)
c.320A>T
5g.140978992G>ACA361259732PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2477G>A (p.Arg826Lys)
c.2609G>A (p.Arg870Lys)
c.2438G>A (p.Arg813Lys)
c.2432G>A (p.Arg811Lys)
c.2411G>A (p.Arg804Lys)
c.2435G>A (p.Arg812Lys)
c.2399G>A (p.Arg800Lys)
c.2396G>A (p.Arg799Lys)
c.2429G>A (p.Arg810Lys)
c.387G>A
c.1646G>A (p.Arg549Lys)
c.1643G>A (p.Arg548Lys)
c.321G>A
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
5g.140978992G>CCA361259734PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2477G>C (p.Arg826Thr)
c.2609G>C (p.Arg870Thr)
c.2438G>C (p.Arg813Thr)
c.2432G>C (p.Arg811Thr)
c.2411G>C (p.Arg804Thr)
c.2435G>C (p.Arg812Thr)
c.2399G>C (p.Arg800Thr)
c.2396G>C (p.Arg799Thr)
c.2429G>C (p.Arg810Thr)
c.387G>C
c.1646G>C (p.Arg549Thr)
c.1643G>C (p.Arg548Thr)
c.321G>C
5g.140978992G=CA1586994835PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2477G= (p.Arg826=)
c.2609G= (p.Arg870=)
c.2438G= (p.Arg813=)
c.2432G= (p.Arg811=)
c.2411G= (p.Arg804=)
c.2435G= (p.Arg812=)
c.2399G= (p.Arg800=)
c.2396G= (p.Arg799=)
c.2429G= (p.Arg810=)
c.387G=
c.1646G= (p.Arg549=)
c.1643G= (p.Arg548=)
c.321G=
5g.140978992G>TCA361259736PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2477G>T (p.Arg826Ile)
c.2609G>T (p.Arg870Ile)
c.2438G>T (p.Arg813Ile)
c.2432G>T (p.Arg811Ile)
c.2411G>T (p.Arg804Ile)
c.2435G>T (p.Arg812Ile)
c.2399G>T (p.Arg800Ile)
c.2396G>T (p.Arg799Ile)
c.2429G>T (p.Arg810Ile)
c.387G>T
c.1646G>T (p.Arg549Ile)
c.1643G>T (p.Arg548Ile)
c.321G>T
 dbSNP gnomAD v3 gnomAD v4
5g.140978993A>CCA361259739PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2478A>C (p.Arg826Ser)
c.2610A>C (p.Arg870Ser)
c.2439A>C (p.Arg813Ser)
c.2433A>C (p.Arg811Ser)
c.2412A>C (p.Arg804Ser)
c.2436A>C (p.Arg812Ser)
c.2400A>C (p.Arg800Ser)
c.2397A>C (p.Arg799Ser)
c.2430A>C (p.Arg810Ser)
c.388A>C
c.1647A>C (p.Arg549Ser)
c.1644A>C (p.Arg548Ser)
c.322A>C
5g.140978993A>GCA446642071PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2478A>G (p.Arg826=)
c.2610A>G (p.Arg870=)
c.2439A>G (p.Arg813=)
c.2433A>G (p.Arg811=)
c.2412A>G (p.Arg804=)
c.2436A>G (p.Arg812=)
c.2400A>G (p.Arg800=)
c.2397A>G (p.Arg799=)
c.2430A>G (p.Arg810=)
c.388A>G
c.1647A>G (p.Arg549=)
c.1644A>G (p.Arg548=)
c.322A>G
5g.140978993A>TCA361259742PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2478A>T (p.Arg826Ser)
c.2610A>T (p.Arg870Ser)
c.2439A>T (p.Arg813Ser)
c.2433A>T (p.Arg811Ser)
c.2412A>T (p.Arg804Ser)
c.2436A>T (p.Arg812Ser)
c.2400A>T (p.Arg800Ser)
c.2397A>T (p.Arg799Ser)
c.2430A>T (p.Arg810Ser)
c.388A>T
c.1647A>T (p.Arg549Ser)
c.1644A>T (p.Arg548Ser)
c.322A>T
5g.140978994G>ACA361259743PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2479G>A (p.Ala827Thr)
c.2611G>A (p.Ala871Thr)
c.2440G>A (p.Ala814Thr)
c.2434G>A (p.Ala812Thr)
c.2413G>A (p.Ala805Thr)
c.2437G>A (p.Ala813Thr)
c.2401G>A (p.Ala801Thr)
c.2398G>A (p.Ala800Thr)
c.2431G>A (p.Ala811Thr)
c.389G>A
c.1648G>A (p.Ala550Thr)
c.1645G>A (p.Ala549Thr)
c.323G>A
 gnomAD v4
5g.140978994G>CCA361259744PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2479G>C (p.Ala827Pro)
c.2611G>C (p.Ala871Pro)
c.2440G>C (p.Ala814Pro)
c.2434G>C (p.Ala812Pro)
c.2413G>C (p.Ala805Pro)
c.2437G>C (p.Ala813Pro)
c.2401G>C (p.Ala801Pro)
c.2398G>C (p.Ala800Pro)
c.2431G>C (p.Ala811Pro)
c.389G>C
c.1648G>C (p.Ala550Pro)
c.1645G>C (p.Ala549Pro)
c.323G>C
5g.140978994G>TCA361259746PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2479G>T (p.Ala827Ser)
c.2611G>T (p.Ala871Ser)
c.2440G>T (p.Ala814Ser)
c.2434G>T (p.Ala812Ser)
c.2413G>T (p.Ala805Ser)
c.2437G>T (p.Ala813Ser)
c.2401G>T (p.Ala801Ser)
c.2398G>T (p.Ala800Ser)
c.2431G>T (p.Ala811Ser)
c.389G>T
c.1648G>T (p.Ala550Ser)
c.1645G>T (p.Ala549Ser)
c.323G>T
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
5g.140978995C>ACA361259748PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2480C>A (p.Ala827Glu)
c.2612C>A (p.Ala871Glu)
c.2441C>A (p.Ala814Glu)
c.2435C>A (p.Ala812Glu)
c.2414C>A (p.Ala805Glu)
c.2438C>A (p.Ala813Glu)
c.2402C>A (p.Ala801Glu)
c.2399C>A (p.Ala800Glu)
c.2432C>A (p.Ala811Glu)
c.390C>A
c.1649C>A (p.Ala550Glu)
c.1646C>A (p.Ala549Glu)
c.324C>A
5g.140978995C=CA1586994837PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2480C= (p.Ala827=)
c.2612C= (p.Ala871=)
c.2441C= (p.Ala814=)
c.2435C= (p.Ala812=)
c.2414C= (p.Ala805=)
c.2438C= (p.Ala813=)
c.2402C= (p.Ala801=)
c.2399C= (p.Ala800=)
c.2432C= (p.Ala811=)
c.390C=
c.1649C= (p.Ala550=)
c.1646C= (p.Ala549=)
c.324C=
5g.140978995C>GCA361259751PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2480C>G (p.Ala827Gly)
c.2612C>G (p.Ala871Gly)
c.2441C>G (p.Ala814Gly)
c.2435C>G (p.Ala812Gly)
c.2414C>G (p.Ala805Gly)
c.2438C>G (p.Ala813Gly)
c.2402C>G (p.Ala801Gly)
c.2399C>G (p.Ala800Gly)
c.2432C>G (p.Ala811Gly)
c.390C>G
c.1649C>G (p.Ala550Gly)
c.1646C>G (p.Ala549Gly)
c.324C>G
 dbSNP
5g.140978995C>TCA361259752PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2480C>T (p.Ala827Val)
c.2612C>T (p.Ala871Val)
c.2441C>T (p.Ala814Val)
c.2435C>T (p.Ala812Val)
c.2414C>T (p.Ala805Val)
c.2438C>T (p.Ala813Val)
c.2402C>T (p.Ala801Val)
c.2399C>T (p.Ala800Val)
c.2432C>T (p.Ala811Val)
c.390C>T
c.1649C>T (p.Ala550Val)
c.1646C>T (p.Ala549Val)
c.324C>T
5g.140978999_140979008delCA2675642563PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2484_2492+1del
c.2616_2624+1del
c.2445_2453+1del
c.2439_2447+1del
c.2418_2426+1del
c.2442_2450+1del
c.2406_2414+1del
c.2403_2411+1del
c.2436_2444+1del
c.394_402+1del
c.1653_1661+1del
c.1650_1658+1del
c.328_336+1del
 gnomAD v4
5g.140978996A=CA1586994840PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2481A= (p.Ala827=)
c.2613A= (p.Ala871=)
c.2442A= (p.Ala814=)
c.2436A= (p.Ala812=)
c.2415A= (p.Ala805=)
c.2439A= (p.Ala813=)
c.2403A= (p.Ala801=)
c.2400A= (p.Ala800=)
c.2433A= (p.Ala811=)
c.391A=
c.1650A= (p.Ala550=)
c.1647A= (p.Ala549=)
c.325A=
5g.140978996A>CCA446642089PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2481A>C (p.Ala827=)
c.2613A>C (p.Ala871=)
c.2442A>C (p.Ala814=)
c.2436A>C (p.Ala812=)
c.2415A>C (p.Ala805=)
c.2439A>C (p.Ala813=)
c.2403A>C (p.Ala801=)
c.2400A>C (p.Ala800=)
c.2433A>C (p.Ala811=)
c.391A>C
c.1650A>C (p.Ala550=)
c.1647A>C (p.Ala549=)
c.325A>C
 gnomAD v4
5g.140978996A>GCA446642085PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2481A>G (p.Ala827=)
c.2613A>G (p.Ala871=)
c.2442A>G (p.Ala814=)
c.2436A>G (p.Ala812=)
c.2415A>G (p.Ala805=)
c.2439A>G (p.Ala813=)
c.2403A>G (p.Ala801=)
c.2400A>G (p.Ala800=)
c.2433A>G (p.Ala811=)
c.391A>G
c.1650A>G (p.Ala550=)
c.1647A>G (p.Ala549=)
c.325A>G
5g.140978996A>TCA446642087PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2481A>T (p.Ala827=)
c.2613A>T (p.Ala871=)
c.2442A>T (p.Ala814=)
c.2436A>T (p.Ala812=)
c.2415A>T (p.Ala805=)
c.2439A>T (p.Ala813=)
c.2403A>T (p.Ala801=)
c.2400A>T (p.Ala800=)
c.2433A>T (p.Ala811=)
c.391A>T
c.1650A>T (p.Ala550=)
c.1647A>T (p.Ala549=)
c.325A>T
 dbSNP gnomAD v4
5g.140978997G>ACA361259754PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2482G>A (p.Gly828Ser)
c.2614G>A (p.Gly872Ser)
c.2443G>A (p.Gly815Ser)
c.2437G>A (p.Gly813Ser)
c.2416G>A (p.Gly806Ser)
c.2440G>A (p.Gly814Ser)
c.2404G>A (p.Gly802Ser)
c.2401G>A (p.Gly801Ser)
c.2434G>A (p.Gly812Ser)
c.392G>A
c.1651G>A (p.Gly551Ser)
c.1648G>A (p.Gly550Ser)
c.326G>A
5g.140978997G>CCA3454466PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2482G>C (p.Gly828Arg)
c.2614G>C (p.Gly872Arg)
c.2443G>C (p.Gly815Arg)
c.2437G>C (p.Gly813Arg)
c.2416G>C (p.Gly806Arg)
c.2440G>C (p.Gly814Arg)
c.2404G>C (p.Gly802Arg)
c.2401G>C (p.Gly801Arg)
c.2434G>C (p.Gly812Arg)
c.392G>C
c.1651G>C (p.Gly551Arg)
c.1648G>C (p.Gly550Arg)
c.326G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.140978997G=CA1586994843PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2482G= (p.Gly828=)
c.2614G= (p.Gly872=)
c.2443G= (p.Gly815=)
c.2437G= (p.Gly813=)
c.2416G= (p.Gly806=)
c.2440G= (p.Gly814=)
c.2404G= (p.Gly802=)
c.2401G= (p.Gly801=)
c.2434G= (p.Gly812=)
c.392G=
c.1651G= (p.Gly551=)
c.1648G= (p.Gly550=)
c.326G=
5g.140978997G>TCA361259757PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2482G>T (p.Gly828Cys)
c.2614G>T (p.Gly872Cys)
c.2443G>T (p.Gly815Cys)
c.2437G>T (p.Gly813Cys)
c.2416G>T (p.Gly806Cys)
c.2440G>T (p.Gly814Cys)
c.2404G>T (p.Gly802Cys)
c.2401G>T (p.Gly801Cys)
c.2434G>T (p.Gly812Cys)
c.392G>T
c.1651G>T (p.Gly551Cys)
c.1648G>T (p.Gly550Cys)
c.326G>T
5g.140978998G>ACA361259759PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2483G>A (p.Gly828Asp)
c.2615G>A (p.Gly872Asp)
c.2444G>A (p.Gly815Asp)
c.2438G>A (p.Gly813Asp)
c.2417G>A (p.Gly806Asp)
c.2441G>A (p.Gly814Asp)
c.2405G>A (p.Gly802Asp)
c.2402G>A (p.Gly801Asp)
c.2435G>A (p.Gly812Asp)
c.393G>A
c.1652G>A (p.Gly551Asp)
c.1649G>A (p.Gly550Asp)
c.327G>A
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
5g.140978998G>CCA361259762PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2483G>C (p.Gly828Ala)
c.2615G>C (p.Gly872Ala)
c.2444G>C (p.Gly815Ala)
c.2438G>C (p.Gly813Ala)
c.2417G>C (p.Gly806Ala)
c.2441G>C (p.Gly814Ala)
c.2405G>C (p.Gly802Ala)
c.2402G>C (p.Gly801Ala)
c.2435G>C (p.Gly812Ala)
c.393G>C
c.1652G>C (p.Gly551Ala)
c.1649G>C (p.Gly550Ala)
c.327G>C
5g.140978998G>TCA361259764PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2483G>T (p.Gly828Val)
c.2615G>T (p.Gly872Val)
c.2444G>T (p.Gly815Val)
c.2438G>T (p.Gly813Val)
c.2417G>T (p.Gly806Val)
c.2441G>T (p.Gly814Val)
c.2405G>T (p.Gly802Val)
c.2402G>T (p.Gly801Val)
c.2435G>T (p.Gly812Val)
c.393G>T
c.1652G>T (p.Gly551Val)
c.1649G>T (p.Gly550Val)
c.327G>T
 dbSNP
5g.140978999C>ACA446642105PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2484C>A (p.Gly828=)
c.2616C>A (p.Gly872=)
c.2445C>A (p.Gly815=)
c.2439C>A (p.Gly813=)
c.2418C>A (p.Gly806=)
c.2442C>A (p.Gly814=)
c.2406C>A (p.Gly802=)
c.2403C>A (p.Gly801=)
c.2436C>A (p.Gly812=)
c.394C>A
c.1653C>A (p.Gly551=)
c.1650C>A (p.Gly550=)
c.328C>A
5g.140978999C>GCA446642107PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2484C>G (p.Gly828=)
c.2616C>G (p.Gly872=)
c.2445C>G (p.Gly815=)
c.2439C>G (p.Gly813=)
c.2418C>G (p.Gly806=)
c.2442C>G (p.Gly814=)
c.2406C>G (p.Gly802=)
c.2403C>G (p.Gly801=)
c.2436C>G (p.Gly812=)
c.394C>G
c.1653C>G (p.Gly551=)
c.1650C>G (p.Gly550=)
c.328C>G
5g.140978999C>TCA446642109PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2484C>T (p.Gly828=)
c.2616C>T (p.Gly872=)
c.2445C>T (p.Gly815=)
c.2439C>T (p.Gly813=)
c.2418C>T (p.Gly806=)
c.2442C>T (p.Gly814=)
c.2406C>T (p.Gly802=)
c.2403C>T (p.Gly801=)
c.2436C>T (p.Gly812=)
c.394C>T
c.1653C>T (p.Gly551=)
c.1650C>T (p.Gly550=)
c.328C>T
5g.140979000A=CA1586994846PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2485A= (p.Met829=)
c.2617A= (p.Met873=)
c.2446A= (p.Met816=)
c.2440A= (p.Met814=)
c.2419A= (p.Met807=)
c.2443A= (p.Met815=)
c.2407A= (p.Met803=)
c.2404A= (p.Met802=)
c.2437A= (p.Met813=)
c.395A=
c.1654A= (p.Met552=)
c.1651A= (p.Met551=)
c.329A=
5g.140979000A>CCA361259771PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2485A>C (p.Met829Leu)
c.2617A>C (p.Met873Leu)
c.2446A>C (p.Met816Leu)
c.2440A>C (p.Met814Leu)
c.2419A>C (p.Met807Leu)
c.2443A>C (p.Met815Leu)
c.2407A>C (p.Met803Leu)
c.2404A>C (p.Met802Leu)
c.2437A>C (p.Met813Leu)
c.395A>C
c.1654A>C (p.Met552Leu)
c.1651A>C (p.Met551Leu)
c.329A>C
5g.140979000A>GCA3454467PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2485A>G (p.Met829Val)
c.2617A>G (p.Met873Val)
c.2446A>G (p.Met816Val)
c.2440A>G (p.Met814Val)
c.2419A>G (p.Met807Val)
c.2443A>G (p.Met815Val)
c.2407A>G (p.Met803Val)
c.2404A>G (p.Met802Val)
c.2437A>G (p.Met813Val)
c.395A>G
c.1654A>G (p.Met552Val)
c.1651A>G (p.Met551Val)
c.329A>G
 dbSNP ExAC
5g.140979000A>TCA361259768PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2485A>T (p.Met829Leu)
c.2617A>T (p.Met873Leu)
c.2446A>T (p.Met816Leu)
c.2440A>T (p.Met814Leu)
c.2419A>T (p.Met807Leu)
c.2443A>T (p.Met815Leu)
c.2407A>T (p.Met803Leu)
c.2404A>T (p.Met802Leu)
c.2437A>T (p.Met813Leu)
c.395A>T
c.1654A>T (p.Met552Leu)
c.1651A>T (p.Met551Leu)
c.329A>T
5g.140979001T>ACA361259775PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2486T>A (p.Met829Lys)
c.2618T>A (p.Met873Lys)
c.2447T>A (p.Met816Lys)
c.2441T>A (p.Met814Lys)
c.2420T>A (p.Met807Lys)
c.2444T>A (p.Met815Lys)
c.2408T>A (p.Met803Lys)
c.2405T>A (p.Met802Lys)
c.2438T>A (p.Met813Lys)
c.396T>A
c.1655T>A (p.Met552Lys)
c.1652T>A (p.Met551Lys)
c.330T>A
5g.140979001T>CCA361259777PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2486T>C (p.Met829Thr)
c.2618T>C (p.Met873Thr)
c.2447T>C (p.Met816Thr)
c.2441T>C (p.Met814Thr)
c.2420T>C (p.Met807Thr)
c.2444T>C (p.Met815Thr)
c.2408T>C (p.Met803Thr)
c.2405T>C (p.Met802Thr)
c.2438T>C (p.Met813Thr)
c.396T>C
c.1655T>C (p.Met552Thr)
c.1652T>C (p.Met551Thr)
c.330T>C
 gnomAD v4
5g.140979001T>GCA361259778PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2486T>G (p.Met829Arg)
c.2618T>G (p.Met873Arg)
c.2447T>G (p.Met816Arg)
c.2441T>G (p.Met814Arg)
c.2420T>G (p.Met807Arg)
c.2444T>G (p.Met815Arg)
c.2408T>G (p.Met803Arg)
c.2405T>G (p.Met802Arg)
c.2438T>G (p.Met813Arg)
c.396T>G
c.1655T>G (p.Met552Arg)
c.1652T>G (p.Met551Arg)
c.330T>G
5g.140979002G>ACA361259780PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2487G>A (p.Met829Ile)
c.2619G>A (p.Met873Ile)
c.2448G>A (p.Met816Ile)
c.2442G>A (p.Met814Ile)
c.2421G>A (p.Met807Ile)
c.2445G>A (p.Met815Ile)
c.2409G>A (p.Met803Ile)
c.2406G>A (p.Met802Ile)
c.2439G>A (p.Met813Ile)
c.397G>A
c.1656G>A (p.Met552Ile)
c.1653G>A (p.Met551Ile)
c.331G>A
 gnomAD v4
5g.140979002G>CCA361259782PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2487G>C (p.Met829Ile)
c.2619G>C (p.Met873Ile)
c.2448G>C (p.Met816Ile)
c.2442G>C (p.Met814Ile)
c.2421G>C (p.Met807Ile)
c.2445G>C (p.Met815Ile)
c.2409G>C (p.Met803Ile)
c.2406G>C (p.Met802Ile)
c.2439G>C (p.Met813Ile)
c.397G>C
c.1656G>C (p.Met552Ile)
c.1653G>C (p.Met551Ile)
c.331G>C
5g.140979002G>TCA361259784PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2487G>T (p.Met829Ile)
c.2619G>T (p.Met873Ile)
c.2448G>T (p.Met816Ile)
c.2442G>T (p.Met814Ile)
c.2421G>T (p.Met807Ile)
c.2445G>T (p.Met815Ile)
c.2409G>T (p.Met803Ile)
c.2406G>T (p.Met802Ile)
c.2439G>T (p.Met813Ile)
c.397G>T
c.1656G>T (p.Met552Ile)
c.1653G>T (p.Met551Ile)
c.331G>T
5g.140979003C>ACA361259787PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2488C>A (p.His830Asn)
c.2620C>A (p.His874Asn)
c.2449C>A (p.His817Asn)
c.2443C>A (p.His815Asn)
c.2422C>A (p.His808Asn)
c.2446C>A (p.His816Asn)
c.2410C>A (p.His804Asn)
c.2407C>A (p.His803Asn)
c.2440C>A (p.His814Asn)
c.398C>A
c.1657C>A (p.His553Asn)
c.1654C>A (p.His552Asn)
c.332C>A
 dbSNP gnomAD v2
5g.140979003C=CA1586994847PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2488C= (p.His830=)
c.2620C= (p.His874=)
c.2449C= (p.His817=)
c.2443C= (p.His815=)
c.2422C= (p.His808=)
c.2446C= (p.His816=)
c.2410C= (p.His804=)
c.2407C= (p.His803=)
c.2440C= (p.His814=)
c.398C=
c.1657C= (p.His553=)
c.1654C= (p.His552=)
c.332C=
5g.140979003C>GCA361259794PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2488C>G (p.His830Asp)
c.2620C>G (p.His874Asp)
c.2449C>G (p.His817Asp)
c.2443C>G (p.His815Asp)
c.2422C>G (p.His808Asp)
c.2446C>G (p.His816Asp)
c.2410C>G (p.His804Asp)
c.2407C>G (p.His803Asp)
c.2440C>G (p.His814Asp)
c.398C>G
c.1657C>G (p.His553Asp)
c.1654C>G (p.His552Asp)
c.332C>G
 gnomAD v4
5g.140979003C>TCA361259790PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2488C>T (p.His830Tyr)
c.2620C>T (p.His874Tyr)
c.2449C>T (p.His817Tyr)
c.2443C>T (p.His815Tyr)
c.2422C>T (p.His808Tyr)
c.2446C>T (p.His816Tyr)
c.2410C>T (p.His804Tyr)
c.2407C>T (p.His803Tyr)
c.2440C>T (p.His814Tyr)
c.398C>T
c.1657C>T (p.His553Tyr)
c.1654C>T (p.His552Tyr)
c.332C>T
5g.140979004A=CA1586994848PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2489A= (p.His830=)
c.2621A= (p.His874=)
c.2450A= (p.His817=)
c.2444A= (p.His815=)
c.2423A= (p.His808=)
c.2447A= (p.His816=)
c.2411A= (p.His804=)
c.2408A= (p.His803=)
c.2441A= (p.His814=)
c.399A=
c.1658A= (p.His553=)
c.1655A= (p.His552=)
c.333A=
5g.140979004A>CCA361259797PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2489A>C (p.His830Pro)
c.2621A>C (p.His874Pro)
c.2450A>C (p.His817Pro)
c.2444A>C (p.His815Pro)
c.2423A>C (p.His808Pro)
c.2447A>C (p.His816Pro)
c.2411A>C (p.His804Pro)
c.2408A>C (p.His803Pro)
c.2441A>C (p.His814Pro)
c.399A>C
c.1658A>C (p.His553Pro)
c.1655A>C (p.His552Pro)
c.333A>C
5g.140979004A>GCA361259798PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2489A>G (p.His830Arg)
c.2621A>G (p.His874Arg)
c.2450A>G (p.His817Arg)
c.2444A>G (p.His815Arg)
c.2423A>G (p.His808Arg)
c.2447A>G (p.His816Arg)
c.2411A>G (p.His804Arg)
c.2408A>G (p.His803Arg)
c.2441A>G (p.His814Arg)
c.399A>G
c.1658A>G (p.His553Arg)
c.1655A>G (p.His552Arg)
c.333A>G
 dbSNP
5g.140979004A>TCA361259801PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2489A>T (p.His830Leu)
c.2621A>T (p.His874Leu)
c.2450A>T (p.His817Leu)
c.2444A>T (p.His815Leu)
c.2423A>T (p.His808Leu)
c.2447A>T (p.His816Leu)
c.2411A>T (p.His804Leu)
c.2408A>T (p.His803Leu)
c.2441A>T (p.His814Leu)
c.399A>T
c.1658A>T (p.His553Leu)
c.1655A>T (p.His552Leu)
c.333A>T
 gnomAD v4
5g.140979005C>ACA361259802PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2490C>A (p.His830Gln)
c.2622C>A (p.His874Gln)
c.2451C>A (p.His817Gln)
c.2445C>A (p.His815Gln)
c.2424C>A (p.His808Gln)
c.2448C>A (p.His816Gln)
c.2412C>A (p.His804Gln)
c.2409C>A (p.His803Gln)
c.2442C>A (p.His814Gln)
c.400C>A
c.1659C>A (p.His553Gln)
c.1656C>A (p.His552Gln)
c.334C>A
5g.140979005C=CA1586994850PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2490C= (p.His830=)
c.2622C= (p.His874=)
c.2451C= (p.His817=)
c.2445C= (p.His815=)
c.2424C= (p.His808=)
c.2448C= (p.His816=)
c.2412C= (p.His804=)
c.2409C= (p.His803=)
c.2442C= (p.His814=)
c.400C=
c.1659C= (p.His553=)
c.1656C= (p.His552=)
c.334C=
5g.140979005C>GCA361259804PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2490C>G (p.His830Gln)
c.2622C>G (p.His874Gln)
c.2451C>G (p.His817Gln)
c.2445C>G (p.His815Gln)
c.2424C>G (p.His808Gln)
c.2448C>G (p.His816Gln)
c.2412C>G (p.His804Gln)
c.2409C>G (p.His803Gln)
c.2442C>G (p.His814Gln)
c.400C>G
c.1659C>G (p.His553Gln)
c.1656C>G (p.His552Gln)
c.334C>G
5g.140979005C>TCA446642145PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2490C>T (p.His830=)
c.2622C>T (p.His874=)
c.2451C>T (p.His817=)
c.2445C>T (p.His815=)
c.2424C>T (p.His808=)
c.2448C>T (p.His816=)
c.2412C>T (p.His804=)
c.2409C>T (p.His803=)
c.2442C>T (p.His814=)
c.400C>T
c.1659C>T (p.His553=)
c.1656C>T (p.His552=)
c.334C>T
 dbSNP gnomAD v2
5g.140979006A=CA1586994853PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2491A= (p.Ser831=)
c.2623A= (p.Ser875=)
c.2452A= (p.Ser818=)
c.2446A= (p.Ser816=)
c.2425A= (p.Ser809=)
c.2449A= (p.Ser817=)
c.2413A= (p.Ser805=)
c.2410A= (p.Ser804=)
c.2443A= (p.Ser815=)
c.401A=
c.1660A= (p.Ser554=)
c.1657A= (p.Ser553=)
c.335A=
5g.140979006A>CCA361259809PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2491A>C (p.Ser831Arg)
c.2623A>C (p.Ser875Arg)
c.2452A>C (p.Ser818Arg)
c.2446A>C (p.Ser816Arg)
c.2425A>C (p.Ser809Arg)
c.2449A>C (p.Ser817Arg)
c.2413A>C (p.Ser805Arg)
c.2410A>C (p.Ser804Arg)
c.2443A>C (p.Ser815Arg)
c.401A>C
c.1660A>C (p.Ser554Arg)
c.1657A>C (p.Ser553Arg)
c.335A>C
5g.140979006A>GCA3454468PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2491A>G (p.Ser831Gly)
c.2623A>G (p.Ser875Gly)
c.2452A>G (p.Ser818Gly)
c.2446A>G (p.Ser816Gly)
c.2425A>G (p.Ser809Gly)
c.2449A>G (p.Ser817Gly)
c.2413A>G (p.Ser805Gly)
c.2410A>G (p.Ser804Gly)
c.2443A>G (p.Ser815Gly)
c.401A>G
c.1660A>G (p.Ser554Gly)
c.1657A>G (p.Ser553Gly)
c.335A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.140979006A>TCA361259807PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2491A>T (p.Ser831Cys)
c.2623A>T (p.Ser875Cys)
c.2452A>T (p.Ser818Cys)
c.2446A>T (p.Ser816Cys)
c.2425A>T (p.Ser809Cys)
c.2449A>T (p.Ser817Cys)
c.2413A>T (p.Ser805Cys)
c.2410A>T (p.Ser804Cys)
c.2443A>T (p.Ser815Cys)
c.401A>T
c.1660A>T (p.Ser554Cys)
c.1657A>T (p.Ser553Cys)
c.335A>T
5g.140979007G>ACA361259811PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492G>A (p.Ser831Asn)
c.2624G>A (p.Ser875Asn)
c.2453G>A (p.Ser818Asn)
c.2447G>A (p.Ser816Asn)
c.2426G>A (p.Ser809Asn)
c.2450G>A (p.Ser817Asn)
c.2414G>A (p.Ser805Asn)
c.2411G>A (p.Ser804Asn)
c.2444G>A (p.Ser815Asn)
c.402G>A
c.1661G>A (p.Ser554Asn)
c.1658G>A (p.Ser553Asn)
c.336G>A
5g.140979007G>CCA361259814PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492G>C (p.Ser831Thr)
c.2624G>C (p.Ser875Thr)
c.2453G>C (p.Ser818Thr)
c.2447G>C (p.Ser816Thr)
c.2426G>C (p.Ser809Thr)
c.2450G>C (p.Ser817Thr)
c.2414G>C (p.Ser805Thr)
c.2411G>C (p.Ser804Thr)
c.2444G>C (p.Ser815Thr)
c.402G>C
c.1661G>C (p.Ser554Thr)
c.1658G>C (p.Ser553Thr)
c.336G>C
5g.140979007G>TCA361259813PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492G>T (p.Ser831Ile)
c.2624G>T (p.Ser875Ile)
c.2453G>T (p.Ser818Ile)
c.2447G>T (p.Ser816Ile)
c.2426G>T (p.Ser809Ile)
c.2450G>T (p.Ser817Ile)
c.2414G>T (p.Ser805Ile)
c.2411G>T (p.Ser804Ile)
c.2444G>T (p.Ser815Ile)
c.402G>T
c.1661G>T (p.Ser554Ile)
c.1658G>T (p.Ser553Ile)
c.336G>T
5g.140979008G>ACA361259818PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+1G>A (n.2492+1G>A)
c.2624+1G>A (n.2624+1G>A)
c.2453+1G>A (n.2453+1G>A)
c.2447+1G>A (n.2447+1G>A)
c.2426+1G>A (n.2426+1G>A)
c.2450+1G>A (n.2450+1G>A)
c.2414+1G>A (n.2414+1G>A)
c.2411+1G>A (n.2411+1G>A)
c.2444+1G>A (n.2444+1G>A)
c.402+1G>A
c.1661+1G>A (n.1661+1G>A)
c.1658+1G>A (n.1658+1G>A)
c.336+1G>A
5g.140979008G>CCA361259822PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+1G>C (n.2492+1G>C)
c.2624+1G>C (n.2624+1G>C)
c.2453+1G>C (n.2453+1G>C)
c.2447+1G>C (n.2447+1G>C)
c.2426+1G>C (n.2426+1G>C)
c.2450+1G>C (n.2450+1G>C)
c.2414+1G>C (n.2414+1G>C)
c.2411+1G>C (n.2411+1G>C)
c.2444+1G>C (n.2444+1G>C)
c.402+1G>C
c.1661+1G>C (n.1661+1G>C)
c.1658+1G>C (n.1658+1G>C)
c.336+1G>C
5g.140979008G>TCA361259819PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+1G>T (n.2492+1G>T)
c.2624+1G>T (n.2624+1G>T)
c.2453+1G>T (n.2453+1G>T)
c.2447+1G>T (n.2447+1G>T)
c.2426+1G>T (n.2426+1G>T)
c.2450+1G>T (n.2450+1G>T)
c.2414+1G>T (n.2414+1G>T)
c.2411+1G>T (n.2411+1G>T)
c.2444+1G>T (n.2444+1G>T)
c.402+1G>T
c.1661+1G>T (n.1661+1G>T)
c.1658+1G>T (n.1658+1G>T)
c.336+1G>T
 gnomAD v4
5g.140979009T>ACA361259824PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+2T>A (n.2492+2T>A)
c.2624+2T>A (n.2624+2T>A)
c.2453+2T>A (n.2453+2T>A)
c.2447+2T>A (n.2447+2T>A)
c.2426+2T>A (n.2426+2T>A)
c.2450+2T>A (n.2450+2T>A)
c.2414+2T>A (n.2414+2T>A)
c.2411+2T>A (n.2411+2T>A)
c.2444+2T>A (n.2444+2T>A)
c.402+2T>A
c.1661+2T>A (n.1661+2T>A)
c.1658+2T>A (n.1658+2T>A)
c.336+2T>A
5g.140979009T>CCA361259826PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+2T>C (n.2492+2T>C)
c.2624+2T>C (n.2624+2T>C)
c.2453+2T>C (n.2453+2T>C)
c.2447+2T>C (n.2447+2T>C)
c.2426+2T>C (n.2426+2T>C)
c.2450+2T>C (n.2450+2T>C)
c.2414+2T>C (n.2414+2T>C)
c.2411+2T>C (n.2411+2T>C)
c.2444+2T>C (n.2444+2T>C)
c.402+2T>C
c.1661+2T>C (n.1661+2T>C)
c.1658+2T>C (n.1658+2T>C)
c.336+2T>C
5g.140979009T>GCA361259828PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+2T>G (n.2492+2T>G)
c.2624+2T>G (n.2624+2T>G)
c.2453+2T>G (n.2453+2T>G)
c.2447+2T>G (n.2447+2T>G)
c.2426+2T>G (n.2426+2T>G)
c.2450+2T>G (n.2450+2T>G)
c.2414+2T>G (n.2414+2T>G)
c.2411+2T>G (n.2411+2T>G)
c.2444+2T>G (n.2444+2T>G)
c.402+2T>G
c.1661+2T>G (n.1661+2T>G)
c.1658+2T>G (n.1658+2T>G)
c.336+2T>G
5g.140979011T>CCA2675642564PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+4T>C (n.2492+4T>C)
c.2624+4T>C (n.2624+4T>C)
c.2453+4T>C (n.2453+4T>C)
c.2447+4T>C (n.2447+4T>C)
c.2426+4T>C (n.2426+4T>C)
c.2450+4T>C (n.2450+4T>C)
c.2414+4T>C (n.2414+4T>C)
c.2411+4T>C (n.2411+4T>C)
c.2444+4T>C (n.2444+4T>C)
c.402+4T>C
c.1661+4T>C (n.1661+4T>C)
c.1658+4T>C (n.1658+4T>C)
c.336+4T>C
 gnomAD v4
5g.140979012G>ACA1082249885PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+5G>A (n.2492+5G>A)
c.2624+5G>A (n.2624+5G>A)
c.2453+5G>A (n.2453+5G>A)
c.2447+5G>A (n.2447+5G>A)
c.2426+5G>A (n.2426+5G>A)
c.2450+5G>A (n.2450+5G>A)
c.2414+5G>A (n.2414+5G>A)
c.2411+5G>A (n.2411+5G>A)
c.2444+5G>A (n.2444+5G>A)
c.402+5G>A
c.1661+5G>A (n.1661+5G>A)
c.1658+5G>A (n.1658+5G>A)
c.336+5G>A
 dbSNP gnomAD v3 gnomAD v4
5g.140979012G=CA1586994856PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+5G= (n.2492+5G=)
c.2624+5G= (n.2624+5G=)
c.2453+5G= (n.2453+5G=)
c.2447+5G= (n.2447+5G=)
c.2426+5G= (n.2426+5G=)
c.2450+5G= (n.2450+5G=)
c.2414+5G= (n.2414+5G=)
c.2411+5G= (n.2411+5G=)
c.2444+5G= (n.2444+5G=)
c.402+5G=
c.1661+5G= (n.1661+5G=)
c.1658+5G= (n.1658+5G=)
c.336+5G=
5g.140979015T>ACA1586994860PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+8T>A (n.2492+8T>A)
c.2624+8T>A (n.2624+8T>A)
c.2453+8T>A (n.2453+8T>A)
c.2447+8T>A (n.2447+8T>A)
c.2426+8T>A (n.2426+8T>A)
c.2450+8T>A (n.2450+8T>A)
c.2414+8T>A (n.2414+8T>A)
c.2411+8T>A (n.2411+8T>A)
c.2444+8T>A (n.2444+8T>A)
c.402+8T>A
c.1661+8T>A (n.1661+8T>A)
c.1658+8T>A (n.1658+8T>A)
c.336+8T>A
 dbSNP gnomAD v4
5g.140979015T>CCA804748026PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+8T>C (n.2492+8T>C)
c.2624+8T>C (n.2624+8T>C)
c.2453+8T>C (n.2453+8T>C)
c.2447+8T>C (n.2447+8T>C)
c.2426+8T>C (n.2426+8T>C)
c.2450+8T>C (n.2450+8T>C)
c.2414+8T>C (n.2414+8T>C)
c.2411+8T>C (n.2411+8T>C)
c.2444+8T>C (n.2444+8T>C)
c.402+8T>C
c.1661+8T>C (n.1661+8T>C)
c.1658+8T>C (n.1658+8T>C)
c.336+8T>C
 dbSNP gnomAD v3 gnomAD v4
5g.140979015T>GCA3454469PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+8T>G (n.2492+8T>G)
c.2624+8T>G (n.2624+8T>G)
c.2453+8T>G (n.2453+8T>G)
c.2447+8T>G (n.2447+8T>G)
c.2426+8T>G (n.2426+8T>G)
c.2450+8T>G (n.2450+8T>G)
c.2414+8T>G (n.2414+8T>G)
c.2411+8T>G (n.2411+8T>G)
c.2444+8T>G (n.2444+8T>G)
c.402+8T>G
c.1661+8T>G (n.1661+8T>G)
c.1658+8T>G (n.1658+8T>G)
c.336+8T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.140979015T=CA1586994859PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+8T= (n.2492+8T=)
c.2624+8T= (n.2624+8T=)
c.2453+8T= (n.2453+8T=)
c.2447+8T= (n.2447+8T=)
c.2426+8T= (n.2426+8T=)
c.2450+8T= (n.2450+8T=)
c.2414+8T= (n.2414+8T=)
c.2411+8T= (n.2411+8T=)
c.2444+8T= (n.2444+8T=)
c.402+8T=
c.1661+8T= (n.1661+8T=)
c.1658+8T= (n.1658+8T=)
c.336+8T=
5g.140979017T>ACA1586994864PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+10T>A (n.2492+10T>A)
c.2624+10T>A (n.2624+10T>A)
c.2453+10T>A (n.2453+10T>A)
c.2447+10T>A (n.2447+10T>A)
c.2426+10T>A (n.2426+10T>A)
c.2450+10T>A (n.2450+10T>A)
c.2414+10T>A (n.2414+10T>A)
c.2411+10T>A (n.2411+10T>A)
c.2444+10T>A (n.2444+10T>A)
c.402+10T>A
c.1661+10T>A (n.1661+10T>A)
c.1658+10T>A (n.1658+10T>A)
c.336+10T>A
 dbSNP
5g.140979017T=CA1586994863PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+10T= (n.2492+10T=)
c.2624+10T= (n.2624+10T=)
c.2453+10T= (n.2453+10T=)
c.2447+10T= (n.2447+10T=)
c.2426+10T= (n.2426+10T=)
c.2450+10T= (n.2450+10T=)
c.2414+10T= (n.2414+10T=)
c.2411+10T= (n.2411+10T=)
c.2444+10T= (n.2444+10T=)
c.402+10T=
c.1661+10T= (n.1661+10T=)
c.1658+10T= (n.1658+10T=)
c.336+10T=
5g.140979018C=CA1586994865PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+11C= (n.2492+11C=)
c.2624+11C= (n.2624+11C=)
c.2453+11C= (n.2453+11C=)
c.2447+11C= (n.2447+11C=)
c.2426+11C= (n.2426+11C=)
c.2450+11C= (n.2450+11C=)
c.2414+11C= (n.2414+11C=)
c.2411+11C= (n.2411+11C=)
c.2444+11C= (n.2444+11C=)
c.402+11C=
c.1661+11C= (n.1661+11C=)
c.1658+11C= (n.1658+11C=)
c.336+11C=
5g.140979018C>TCA563338983PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+11C>T (n.2492+11C>T)
c.2624+11C>T (n.2624+11C>T)
c.2453+11C>T (n.2453+11C>T)
c.2447+11C>T (n.2447+11C>T)
c.2426+11C>T (n.2426+11C>T)
c.2450+11C>T (n.2450+11C>T)
c.2414+11C>T (n.2414+11C>T)
c.2411+11C>T (n.2411+11C>T)
c.2444+11C>T (n.2444+11C>T)
c.402+11C>T
c.1661+11C>T (n.1661+11C>T)
c.1658+11C>T (n.1658+11C>T)
c.336+11C>T
 dbSNP gnomAD v2
5g.140979019C>TCA2675642565PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+12C>T (n.2492+12C>T)
c.2624+12C>T (n.2624+12C>T)
c.2453+12C>T (n.2453+12C>T)
c.2447+12C>T (n.2447+12C>T)
c.2426+12C>T (n.2426+12C>T)
c.2450+12C>T (n.2450+12C>T)
c.2414+12C>T (n.2414+12C>T)
c.2411+12C>T (n.2411+12C>T)
c.2444+12C>T (n.2444+12C>T)
c.402+12C>T
c.1661+12C>T (n.1661+12C>T)
c.1658+12C>T (n.1658+12C>T)
c.336+12C>T
 gnomAD v4
5g.140979020C>TCA2675642566PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+13C>T (n.2492+13C>T)
c.2624+13C>T (n.2624+13C>T)
c.2453+13C>T (n.2453+13C>T)
c.2447+13C>T (n.2447+13C>T)
c.2426+13C>T (n.2426+13C>T)
c.2450+13C>T (n.2450+13C>T)
c.2414+13C>T (n.2414+13C>T)
c.2411+13C>T (n.2411+13C>T)
c.2444+13C>T (n.2444+13C>T)
c.402+13C>T
c.1661+13C>T (n.1661+13C>T)
c.1658+13C>T (n.1658+13C>T)
c.336+13C>T
 gnomAD v4
5g.140979021T>CCA2710399349PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+14T>C (n.2492+14T>C)
c.2624+14T>C (n.2624+14T>C)
c.2453+14T>C (n.2453+14T>C)
c.2447+14T>C (n.2447+14T>C)
c.2426+14T>C (n.2426+14T>C)
c.2450+14T>C (n.2450+14T>C)
c.2414+14T>C (n.2414+14T>C)
c.2411+14T>C (n.2411+14T>C)
c.2444+14T>C (n.2444+14T>C)
c.402+14T>C
c.1661+14T>C (n.1661+14T>C)
c.1658+14T>C (n.1658+14T>C)
c.336+14T>C
 dbSNP
5g.140979022C>TCA2521826521PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+15C>T (n.2492+15C>T)
c.2624+15C>T (n.2624+15C>T)
c.2453+15C>T (n.2453+15C>T)
c.2447+15C>T (n.2447+15C>T)
c.2426+15C>T (n.2426+15C>T)
c.2450+15C>T (n.2450+15C>T)
c.2414+15C>T (n.2414+15C>T)
c.2411+15C>T (n.2411+15C>T)
c.2444+15C>T (n.2444+15C>T)
c.402+15C>T
c.1661+15C>T (n.1661+15C>T)
c.1658+15C>T (n.1658+15C>T)
c.336+15C>T
5g.140979023C=CA1586994867PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+16C= (n.2492+16C=)
c.2624+16C= (n.2624+16C=)
c.2453+16C= (n.2453+16C=)
c.2447+16C= (n.2447+16C=)
c.2426+16C= (n.2426+16C=)
c.2450+16C= (n.2450+16C=)
c.2414+16C= (n.2414+16C=)
c.2411+16C= (n.2411+16C=)
c.2444+16C= (n.2444+16C=)
c.402+16C=
c.1661+16C= (n.1661+16C=)
c.1658+16C= (n.1658+16C=)
c.336+16C=
5g.140979023C>GCA1082249886PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+16C>G (n.2492+16C>G)
c.2624+16C>G (n.2624+16C>G)
c.2453+16C>G (n.2453+16C>G)
c.2447+16C>G (n.2447+16C>G)
c.2426+16C>G (n.2426+16C>G)
c.2450+16C>G (n.2450+16C>G)
c.2414+16C>G (n.2414+16C>G)
c.2411+16C>G (n.2411+16C>G)
c.2444+16C>G (n.2444+16C>G)
c.402+16C>G
c.1661+16C>G (n.1661+16C>G)
c.1658+16C>G (n.1658+16C>G)
c.336+16C>G
 dbSNP gnomAD v3 gnomAD v4
5g.140979025C=CA1586994869PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+18C= (n.2492+18C=)
c.2624+18C= (n.2624+18C=)
c.2453+18C= (n.2453+18C=)
c.2447+18C= (n.2447+18C=)
c.2426+18C= (n.2426+18C=)
c.2450+18C= (n.2450+18C=)
c.2414+18C= (n.2414+18C=)
c.2411+18C= (n.2411+18C=)
c.2444+18C= (n.2444+18C=)
c.402+18C=
c.1661+18C= (n.1661+18C=)
c.1658+18C= (n.1658+18C=)
c.336+18C=
5g.140979025C>TCA128361322PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+18C>T (n.2492+18C>T)
c.2624+18C>T (n.2624+18C>T)
c.2453+18C>T (n.2453+18C>T)
c.2447+18C>T (n.2447+18C>T)
c.2426+18C>T (n.2426+18C>T)
c.2450+18C>T (n.2450+18C>T)
c.2414+18C>T (n.2414+18C>T)
c.2411+18C>T (n.2411+18C>T)
c.2444+18C>T (n.2444+18C>T)
c.402+18C>T
c.1661+18C>T (n.1661+18C>T)
c.1658+18C>T (n.1658+18C>T)
c.336+18C>T
 dbSNP
5g.140979026A=CA1586994871PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+19A= (n.2492+19A=)
c.2624+19A= (n.2624+19A=)
c.2453+19A= (n.2453+19A=)
c.2447+19A= (n.2447+19A=)
c.2426+19A= (n.2426+19A=)
c.2450+19A= (n.2450+19A=)
c.2414+19A= (n.2414+19A=)
c.2411+19A= (n.2411+19A=)
c.2444+19A= (n.2444+19A=)
c.402+19A=
c.1661+19A= (n.1661+19A=)
c.1658+19A= (n.1658+19A=)
c.336+19A=
5g.140979026A>TCA3454470PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+19A>T (n.2492+19A>T)
c.2624+19A>T (n.2624+19A>T)
c.2453+19A>T (n.2453+19A>T)
c.2447+19A>T (n.2447+19A>T)
c.2426+19A>T (n.2426+19A>T)
c.2450+19A>T (n.2450+19A>T)
c.2414+19A>T (n.2414+19A>T)
c.2411+19A>T (n.2411+19A>T)
c.2444+19A>T (n.2444+19A>T)
c.402+19A>T
c.1661+19A>T (n.1661+19A>T)
c.1658+19A>T (n.1658+19A>T)
c.336+19A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.140979027T>CCA3454471PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+20T>C (n.2492+20T>C)
c.2624+20T>C (n.2624+20T>C)
c.2453+20T>C (n.2453+20T>C)
c.2447+20T>C (n.2447+20T>C)
c.2426+20T>C (n.2426+20T>C)
c.2450+20T>C (n.2450+20T>C)
c.2414+20T>C (n.2414+20T>C)
c.2411+20T>C (n.2411+20T>C)
c.2444+20T>C (n.2444+20T>C)
c.402+20T>C
c.1661+20T>C (n.1661+20T>C)
c.1658+20T>C (n.1658+20T>C)
c.336+20T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.140979027T=CA1586994875PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+20T= (n.2492+20T=)
c.2624+20T= (n.2624+20T=)
c.2453+20T= (n.2453+20T=)
c.2447+20T= (n.2447+20T=)
c.2426+20T= (n.2426+20T=)
c.2450+20T= (n.2450+20T=)
c.2414+20T= (n.2414+20T=)
c.2411+20T= (n.2411+20T=)
c.2444+20T= (n.2444+20T=)
c.402+20T=
c.1661+20T= (n.1661+20T=)
c.1658+20T= (n.1658+20T=)
c.336+20T=
5g.140979028dupCA1082249888PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+21dup (n.2492+21dup)
c.2624+21dup (n.2624+21dup)
c.2453+21dup (n.2453+21dup)
c.2447+21dup (n.2447+21dup)
c.2426+21dup (n.2426+21dup)
c.2450+21dup (n.2450+21dup)
c.2414+21dup (n.2414+21dup)
c.2411+21dup (n.2411+21dup)
c.2444+21dup (n.2444+21dup)
c.402+21dup
c.1661+21dup (n.1661+21dup)
c.1658+21dup (n.1658+21dup)
c.336+21dup
 dbSNP gnomAD v3 gnomAD v4
5g.140979033C>GCA2675642567PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+26C>G (n.2492+26C>G)
c.2624+26C>G (n.2624+26C>G)
c.2453+26C>G (n.2453+26C>G)
c.2447+26C>G (n.2447+26C>G)
c.2426+26C>G (n.2426+26C>G)
c.2450+26C>G (n.2450+26C>G)
c.2414+26C>G (n.2414+26C>G)
c.2411+26C>G (n.2411+26C>G)
c.2444+26C>G (n.2444+26C>G)
c.402+26C>G
c.1661+26C>G (n.1661+26C>G)
c.1658+26C>G (n.1658+26C>G)
c.336+26C>G
 gnomAD v4
5g.140979033C>TCA2675642568PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+26C>T (n.2492+26C>T)
c.2624+26C>T (n.2624+26C>T)
c.2453+26C>T (n.2453+26C>T)
c.2447+26C>T (n.2447+26C>T)
c.2426+26C>T (n.2426+26C>T)
c.2450+26C>T (n.2450+26C>T)
c.2414+26C>T (n.2414+26C>T)
c.2411+26C>T (n.2411+26C>T)
c.2444+26C>T (n.2444+26C>T)
c.402+26C>T
c.1661+26C>T (n.1661+26C>T)
c.1658+26C>T (n.1658+26C>T)
c.336+26C>T
 gnomAD v4
5g.140979035G>ACA2675642569PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+28G>A (n.2492+28G>A)
c.2624+28G>A (n.2624+28G>A)
c.2453+28G>A (n.2453+28G>A)
c.2447+28G>A (n.2447+28G>A)
c.2426+28G>A (n.2426+28G>A)
c.2450+28G>A (n.2450+28G>A)
c.2414+28G>A (n.2414+28G>A)
c.2411+28G>A (n.2411+28G>A)
c.2444+28G>A (n.2444+28G>A)
c.402+28G>A
c.1661+28G>A (n.1661+28G>A)
c.1658+28G>A (n.1658+28G>A)
c.336+28G>A
 gnomAD v4
5g.140979036A>GCA2675642570PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+29A>G (n.2492+29A>G)
c.2624+29A>G (n.2624+29A>G)
c.2453+29A>G (n.2453+29A>G)
c.2447+29A>G (n.2447+29A>G)
c.2426+29A>G (n.2426+29A>G)
c.2450+29A>G (n.2450+29A>G)
c.2414+29A>G (n.2414+29A>G)
c.2411+29A>G (n.2411+29A>G)
c.2444+29A>G (n.2444+29A>G)
c.402+29A>G
c.1661+29A>G (n.1661+29A>G)
c.1658+29A>G (n.1658+29A>G)
c.336+29A>G
 gnomAD v4
5g.140979042C>ACA804748032PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+35C>A (n.2492+35C>A)
c.2624+35C>A (n.2624+35C>A)
c.2453+35C>A (n.2453+35C>A)
c.2447+35C>A (n.2447+35C>A)
c.2426+35C>A (n.2426+35C>A)
c.2450+35C>A (n.2450+35C>A)
c.2414+35C>A (n.2414+35C>A)
c.2411+35C>A (n.2411+35C>A)
c.2444+35C>A (n.2444+35C>A)
c.402+35C>A
c.1661+35C>A (n.1661+35C>A)
c.1658+35C>A (n.1658+35C>A)
c.336+35C>A
 dbSNP gnomAD v3 gnomAD v4
5g.140979042C=CA1586994878PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+35C= (n.2492+35C=)
c.2624+35C= (n.2624+35C=)
c.2453+35C= (n.2453+35C=)
c.2447+35C= (n.2447+35C=)
c.2426+35C= (n.2426+35C=)
c.2450+35C= (n.2450+35C=)
c.2414+35C= (n.2414+35C=)
c.2411+35C= (n.2411+35C=)
c.2444+35C= (n.2444+35C=)
c.402+35C=
c.1661+35C= (n.1661+35C=)
c.1658+35C= (n.1658+35C=)
c.336+35C=
5g.140979042C>GCA3454472PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+35C>G (n.2492+35C>G)
c.2624+35C>G (n.2624+35C>G)
c.2453+35C>G (n.2453+35C>G)
c.2447+35C>G (n.2447+35C>G)
c.2426+35C>G (n.2426+35C>G)
c.2450+35C>G (n.2450+35C>G)
c.2414+35C>G (n.2414+35C>G)
c.2411+35C>G (n.2411+35C>G)
c.2444+35C>G (n.2444+35C>G)
c.402+35C>G
c.1661+35C>G (n.1661+35C>G)
c.1658+35C>G (n.1658+35C>G)
c.336+35C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.140979042C>TCA804748033PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+35C>T (n.2492+35C>T)
c.2624+35C>T (n.2624+35C>T)
c.2453+35C>T (n.2453+35C>T)
c.2447+35C>T (n.2447+35C>T)
c.2426+35C>T (n.2426+35C>T)
c.2450+35C>T (n.2450+35C>T)
c.2414+35C>T (n.2414+35C>T)
c.2411+35C>T (n.2411+35C>T)
c.2444+35C>T (n.2444+35C>T)
c.402+35C>T
c.1661+35C>T (n.1661+35C>T)
c.1658+35C>T (n.1658+35C>T)
c.336+35C>T
 dbSNP gnomAD v3 gnomAD v4
5g.140979043C>ACA3454473PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+36C>A (n.2492+36C>A)
c.2624+36C>A (n.2624+36C>A)
c.2453+36C>A (n.2453+36C>A)
c.2447+36C>A (n.2447+36C>A)
c.2426+36C>A (n.2426+36C>A)
c.2450+36C>A (n.2450+36C>A)
c.2414+36C>A (n.2414+36C>A)
c.2411+36C>A (n.2411+36C>A)
c.2444+36C>A (n.2444+36C>A)
c.402+36C>A
c.1661+36C>A (n.1661+36C>A)
c.1658+36C>A (n.1658+36C>A)
c.336+36C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.140979043C=CA1586994881PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+36C= (n.2492+36C=)
c.2624+36C= (n.2624+36C=)
c.2453+36C= (n.2453+36C=)
c.2447+36C= (n.2447+36C=)
c.2426+36C= (n.2426+36C=)
c.2450+36C= (n.2450+36C=)
c.2414+36C= (n.2414+36C=)
c.2411+36C= (n.2411+36C=)
c.2444+36C= (n.2444+36C=)
c.402+36C=
c.1661+36C= (n.1661+36C=)
c.1658+36C= (n.1658+36C=)
c.336+36C=
5g.140979043C>GCA2675642571PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+36C>G (n.2492+36C>G)
c.2624+36C>G (n.2624+36C>G)
c.2453+36C>G (n.2453+36C>G)
c.2447+36C>G (n.2447+36C>G)
c.2426+36C>G (n.2426+36C>G)
c.2450+36C>G (n.2450+36C>G)
c.2414+36C>G (n.2414+36C>G)
c.2411+36C>G (n.2411+36C>G)
c.2444+36C>G (n.2444+36C>G)
c.402+36C>G
c.1661+36C>G (n.1661+36C>G)
c.1658+36C>G (n.1658+36C>G)
c.336+36C>G
 gnomAD v4
5g.140979044T>GCA1586994883PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+37T>G (n.2492+37T>G)
c.2624+37T>G (n.2624+37T>G)
c.2453+37T>G (n.2453+37T>G)
c.2447+37T>G (n.2447+37T>G)
c.2426+37T>G (n.2426+37T>G)
c.2450+37T>G (n.2450+37T>G)
c.2414+37T>G (n.2414+37T>G)
c.2411+37T>G (n.2411+37T>G)
c.2444+37T>G (n.2444+37T>G)
c.402+37T>G
c.1661+37T>G (n.1661+37T>G)
c.1658+37T>G (n.1658+37T>G)
c.336+37T>G
 dbSNP
5g.140979044T=CA1586994882PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+37T= (n.2492+37T=)
c.2624+37T= (n.2624+37T=)
c.2453+37T= (n.2453+37T=)
c.2447+37T= (n.2447+37T=)
c.2426+37T= (n.2426+37T=)
c.2450+37T= (n.2450+37T=)
c.2414+37T= (n.2414+37T=)
c.2411+37T= (n.2411+37T=)
c.2444+37T= (n.2444+37T=)
c.402+37T=
c.1661+37T= (n.1661+37T=)
c.1658+37T= (n.1658+37T=)
c.336+37T=
5g.140979047A=CA1586994885PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+40A= (n.2492+40A=)
c.2624+40A= (n.2624+40A=)
c.2453+40A= (n.2453+40A=)
c.2447+40A= (n.2447+40A=)
c.2426+40A= (n.2426+40A=)
c.2450+40A= (n.2450+40A=)
c.2414+40A= (n.2414+40A=)
c.2411+40A= (n.2411+40A=)
c.2444+40A= (n.2444+40A=)
c.402+40A=
c.1661+40A= (n.1661+40A=)
c.1658+40A= (n.1658+40A=)
c.336+40A=
5g.140979047A>GCA3454474PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+40A>G (n.2492+40A>G)
c.2624+40A>G (n.2624+40A>G)
c.2453+40A>G (n.2453+40A>G)
c.2447+40A>G (n.2447+40A>G)
c.2426+40A>G (n.2426+40A>G)
c.2450+40A>G (n.2450+40A>G)
c.2414+40A>G (n.2414+40A>G)
c.2411+40A>G (n.2411+40A>G)
c.2444+40A>G (n.2444+40A>G)
c.402+40A>G
c.1661+40A>G (n.1661+40A>G)
c.1658+40A>G (n.1658+40A>G)
c.336+40A>G
 dbSNP ExAC gnomAD v2
5g.140979048C>GCA2675642573PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+41C>G (n.2492+41C>G)
c.2624+41C>G (n.2624+41C>G)
c.2453+41C>G (n.2453+41C>G)
c.2447+41C>G (n.2447+41C>G)
c.2426+41C>G (n.2426+41C>G)
c.2450+41C>G (n.2450+41C>G)
c.2414+41C>G (n.2414+41C>G)
c.2411+41C>G (n.2411+41C>G)
c.2444+41C>G (n.2444+41C>G)
c.402+41C>G
c.1661+41C>G (n.1661+41C>G)
c.1658+41C>G (n.1658+41C>G)
c.336+41C>G
 gnomAD v4
5g.140979048C>TCA2675642572PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+41C>T (n.2492+41C>T)
c.2624+41C>T (n.2624+41C>T)
c.2453+41C>T (n.2453+41C>T)
c.2447+41C>T (n.2447+41C>T)
c.2426+41C>T (n.2426+41C>T)
c.2450+41C>T (n.2450+41C>T)
c.2414+41C>T (n.2414+41C>T)
c.2411+41C>T (n.2411+41C>T)
c.2444+41C>T (n.2444+41C>T)
c.402+41C>T
c.1661+41C>T (n.1661+41C>T)
c.1658+41C>T (n.1658+41C>T)
c.336+41C>T
 gnomAD v4
5g.140979051G>CCA2675642574PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+44G>C (n.2492+44G>C)
c.2624+44G>C (n.2624+44G>C)
c.2453+44G>C (n.2453+44G>C)
c.2447+44G>C (n.2447+44G>C)
c.2426+44G>C (n.2426+44G>C)
c.2450+44G>C (n.2450+44G>C)
c.2414+44G>C (n.2414+44G>C)
c.2411+44G>C (n.2411+44G>C)
c.2444+44G>C (n.2444+44G>C)
c.402+44G>C
c.1661+44G>C (n.1661+44G>C)
c.1658+44G>C (n.1658+44G>C)
c.336+44G>C
 gnomAD v4
5g.140979051G=CA1586994887PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+44G= (n.2492+44G=)
c.2624+44G= (n.2624+44G=)
c.2453+44G= (n.2453+44G=)
c.2447+44G= (n.2447+44G=)
c.2426+44G= (n.2426+44G=)
c.2450+44G= (n.2450+44G=)
c.2414+44G= (n.2414+44G=)
c.2411+44G= (n.2411+44G=)
c.2444+44G= (n.2444+44G=)
c.402+44G=
c.1661+44G= (n.1661+44G=)
c.1658+44G= (n.1658+44G=)
c.336+44G=
5g.140979051G>TCA563338984PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+44G>T (n.2492+44G>T)
c.2624+44G>T (n.2624+44G>T)
c.2453+44G>T (n.2453+44G>T)
c.2447+44G>T (n.2447+44G>T)
c.2426+44G>T (n.2426+44G>T)
c.2450+44G>T (n.2450+44G>T)
c.2414+44G>T (n.2414+44G>T)
c.2411+44G>T (n.2411+44G>T)
c.2444+44G>T (n.2444+44G>T)
c.402+44G>T
c.1661+44G>T (n.1661+44G>T)
c.1658+44G>T (n.1658+44G>T)
c.336+44G>T
 dbSNP gnomAD v2 gnomAD v4
5g.140979052G=CA1586994889PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+45G= (n.2492+45G=)
c.2624+45G= (n.2624+45G=)
c.2453+45G= (n.2453+45G=)
c.2447+45G= (n.2447+45G=)
c.2426+45G= (n.2426+45G=)
c.2450+45G= (n.2450+45G=)
c.2414+45G= (n.2414+45G=)
c.2411+45G= (n.2411+45G=)
c.2444+45G= (n.2444+45G=)
c.402+45G=
c.1661+45G= (n.1661+45G=)
c.1658+45G= (n.1658+45G=)
c.336+45G=
5g.140979052G>TCA1082249892PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+45G>T (n.2492+45G>T)
c.2624+45G>T (n.2624+45G>T)
c.2453+45G>T (n.2453+45G>T)
c.2447+45G>T (n.2447+45G>T)
c.2426+45G>T (n.2426+45G>T)
c.2450+45G>T (n.2450+45G>T)
c.2414+45G>T (n.2414+45G>T)
c.2411+45G>T (n.2411+45G>T)
c.2444+45G>T (n.2444+45G>T)
c.402+45G>T
c.1661+45G>T (n.1661+45G>T)
c.1658+45G>T (n.1658+45G>T)
c.336+45G>T
 dbSNP gnomAD v3 gnomAD v4
5g.140979053T>ACA563338985PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+46T>A (n.2492+46T>A)
c.2624+46T>A (n.2624+46T>A)
c.2453+46T>A (n.2453+46T>A)
c.2447+46T>A (n.2447+46T>A)
c.2426+46T>A (n.2426+46T>A)
c.2450+46T>A (n.2450+46T>A)
c.2414+46T>A (n.2414+46T>A)
c.2411+46T>A (n.2411+46T>A)
c.2444+46T>A (n.2444+46T>A)
c.402+46T>A
c.1661+46T>A (n.1661+46T>A)
c.1658+46T>A (n.1658+46T>A)
c.336+46T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.140979053T=CA1586994891PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+46T= (n.2492+46T=)
c.2624+46T= (n.2624+46T=)
c.2453+46T= (n.2453+46T=)
c.2447+46T= (n.2447+46T=)
c.2426+46T= (n.2426+46T=)
c.2450+46T= (n.2450+46T=)
c.2414+46T= (n.2414+46T=)
c.2411+46T= (n.2411+46T=)
c.2444+46T= (n.2444+46T=)
c.402+46T=
c.1661+46T= (n.1661+46T=)
c.1658+46T= (n.1658+46T=)
c.336+46T=
5g.140979054A=CA1586994893PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+47A= (n.2492+47A=)
c.2624+47A= (n.2624+47A=)
c.2453+47A= (n.2453+47A=)
c.2447+47A= (n.2447+47A=)
c.2426+47A= (n.2426+47A=)
c.2450+47A= (n.2450+47A=)
c.2414+47A= (n.2414+47A=)
c.2411+47A= (n.2411+47A=)
c.2444+47A= (n.2444+47A=)
c.402+47A=
c.1661+47A= (n.1661+47A=)
c.1658+47A= (n.1658+47A=)
c.336+47A=
5g.140979054A>GCA3454475PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+47A>G (n.2492+47A>G)
c.2624+47A>G (n.2624+47A>G)
c.2453+47A>G (n.2453+47A>G)
c.2447+47A>G (n.2447+47A>G)
c.2426+47A>G (n.2426+47A>G)
c.2450+47A>G (n.2450+47A>G)
c.2414+47A>G (n.2414+47A>G)
c.2411+47A>G (n.2411+47A>G)
c.2444+47A>G (n.2444+47A>G)
c.402+47A>G
c.1661+47A>G (n.1661+47A>G)
c.1658+47A>G (n.1658+47A>G)
c.336+47A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.140979055T>ACA1586994898PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+48T>A (n.2492+48T>A)
c.2624+48T>A (n.2624+48T>A)
c.2453+48T>A (n.2453+48T>A)
c.2447+48T>A (n.2447+48T>A)
c.2426+48T>A (n.2426+48T>A)
c.2450+48T>A (n.2450+48T>A)
c.2414+48T>A (n.2414+48T>A)
c.2411+48T>A (n.2411+48T>A)
c.2444+48T>A (n.2444+48T>A)
c.402+48T>A
c.1661+48T>A (n.1661+48T>A)
c.1658+48T>A (n.1658+48T>A)
c.336+48T>A
 dbSNP gnomAD v4
5g.140979055T=CA1586994897PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+48T= (n.2492+48T=)
c.2624+48T= (n.2624+48T=)
c.2453+48T= (n.2453+48T=)
c.2447+48T= (n.2447+48T=)
c.2426+48T= (n.2426+48T=)
c.2450+48T= (n.2450+48T=)
c.2414+48T= (n.2414+48T=)
c.2411+48T= (n.2411+48T=)
c.2444+48T= (n.2444+48T=)
c.402+48T=
c.1661+48T= (n.1661+48T=)
c.1658+48T= (n.1658+48T=)
c.336+48T=
5g.140979056G>TCA2529080999PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+49G>T (n.2492+49G>T)
c.2624+49G>T (n.2624+49G>T)
c.2453+49G>T (n.2453+49G>T)
c.2447+49G>T (n.2447+49G>T)
c.2426+49G>T (n.2426+49G>T)
c.2450+49G>T (n.2450+49G>T)
c.2414+49G>T (n.2414+49G>T)
c.2411+49G>T (n.2411+49G>T)
c.2444+49G>T (n.2444+49G>T)
c.402+49G>T
c.1661+49G>T (n.1661+49G>T)
c.1658+49G>T (n.1658+49G>T)
c.336+49G>T
5g.140979058C>ACA2675642575PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+51C>A (n.2492+51C>A)
c.2624+51C>A (n.2624+51C>A)
c.2453+51C>A (n.2453+51C>A)
c.2447+51C>A (n.2447+51C>A)
c.2426+51C>A (n.2426+51C>A)
c.2450+51C>A (n.2450+51C>A)
c.2414+51C>A (n.2414+51C>A)
c.2411+51C>A (n.2411+51C>A)
c.2444+51C>A (n.2444+51C>A)
c.402+51C>A
c.1661+51C>A (n.1661+51C>A)
c.1658+51C>A (n.1658+51C>A)
c.336+51C>A
 gnomAD v4
5g.140979058C>GCA2768658372PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+51C>G (n.2492+51C>G)
c.2624+51C>G (n.2624+51C>G)
c.2453+51C>G (n.2453+51C>G)
c.2447+51C>G (n.2447+51C>G)
c.2426+51C>G (n.2426+51C>G)
c.2450+51C>G (n.2450+51C>G)
c.2414+51C>G (n.2414+51C>G)
c.2411+51C>G (n.2411+51C>G)
c.2444+51C>G (n.2444+51C>G)
c.402+51C>G
c.1661+51C>G (n.1661+51C>G)
c.1658+51C>G (n.1658+51C>G)
c.336+51C>G
5g.140979060C>TCA2675642576PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+53C>T (n.2492+53C>T)
c.2624+53C>T (n.2624+53C>T)
c.2453+53C>T (n.2453+53C>T)
c.2447+53C>T (n.2447+53C>T)
c.2426+53C>T (n.2426+53C>T)
c.2450+53C>T (n.2450+53C>T)
c.2414+53C>T (n.2414+53C>T)
c.2411+53C>T (n.2411+53C>T)
c.2444+53C>T (n.2444+53C>T)
c.402+53C>T
c.1661+53C>T (n.1661+53C>T)
c.1658+53C>T (n.1658+53C>T)
c.336+53C>T
 gnomAD v4
5g.140979061A=CA1586994900PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+54A= (n.2492+54A=)
c.2624+54A= (n.2624+54A=)
c.2453+54A= (n.2453+54A=)
c.2447+54A= (n.2447+54A=)
c.2426+54A= (n.2426+54A=)
c.2450+54A= (n.2450+54A=)
c.2414+54A= (n.2414+54A=)
c.2411+54A= (n.2411+54A=)
c.2444+54A= (n.2444+54A=)
c.402+54A=
c.1661+54A= (n.1661+54A=)
c.1658+54A= (n.1658+54A=)
c.336+54A=
5g.140979061A>CCA2578430005PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+54A>C (n.2492+54A>C)
c.2624+54A>C (n.2624+54A>C)
c.2453+54A>C (n.2453+54A>C)
c.2447+54A>C (n.2447+54A>C)
c.2426+54A>C (n.2426+54A>C)
c.2450+54A>C (n.2450+54A>C)
c.2414+54A>C (n.2414+54A>C)
c.2411+54A>C (n.2411+54A>C)
c.2444+54A>C (n.2444+54A>C)
c.402+54A>C
c.1661+54A>C (n.1661+54A>C)
c.1658+54A>C (n.1658+54A>C)
c.336+54A>C
5g.140979061A>GCA128361338PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+54A>G (n.2492+54A>G)
c.2624+54A>G (n.2624+54A>G)
c.2453+54A>G (n.2453+54A>G)
c.2447+54A>G (n.2447+54A>G)
c.2426+54A>G (n.2426+54A>G)
c.2450+54A>G (n.2450+54A>G)
c.2414+54A>G (n.2414+54A>G)
c.2411+54A>G (n.2411+54A>G)
c.2444+54A>G (n.2444+54A>G)
c.402+54A>G
c.1661+54A>G (n.1661+54A>G)
c.1658+54A>G (n.1658+54A>G)
c.336+54A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.140979062G>ACA2675642577PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+55G>A (n.2492+55G>A)
c.2624+55G>A (n.2624+55G>A)
c.2453+55G>A (n.2453+55G>A)
c.2447+55G>A (n.2447+55G>A)
c.2426+55G>A (n.2426+55G>A)
c.2450+55G>A (n.2450+55G>A)
c.2414+55G>A (n.2414+55G>A)
c.2411+55G>A (n.2411+55G>A)
c.2444+55G>A (n.2444+55G>A)
c.402+55G>A
c.1661+55G>A (n.1661+55G>A)
c.1658+55G>A (n.1658+55G>A)
c.336+55G>A
 gnomAD v4
5g.140979063A=CA1586994903PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+56A= (n.2492+56A=)
c.2624+56A= (n.2624+56A=)
c.2453+56A= (n.2453+56A=)
c.2447+56A= (n.2447+56A=)
c.2426+56A= (n.2426+56A=)
c.2450+56A= (n.2450+56A=)
c.2414+56A= (n.2414+56A=)
c.2411+56A= (n.2411+56A=)
c.2444+56A= (n.2444+56A=)
c.402+56A=
c.1661+56A= (n.1661+56A=)
c.1658+56A= (n.1658+56A=)
c.336+56A=
5g.140979063A>GCA804748037PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+56A>G (n.2492+56A>G)
c.2624+56A>G (n.2624+56A>G)
c.2453+56A>G (n.2453+56A>G)
c.2447+56A>G (n.2447+56A>G)
c.2426+56A>G (n.2426+56A>G)
c.2450+56A>G (n.2450+56A>G)
c.2414+56A>G (n.2414+56A>G)
c.2411+56A>G (n.2411+56A>G)
c.2444+56A>G (n.2444+56A>G)
c.402+56A>G
c.1661+56A>G (n.1661+56A>G)
c.1658+56A>G (n.1658+56A>G)
c.336+56A>G
 dbSNP gnomAD v3 gnomAD v4
5g.140979067A=CA1586994904PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+60A= (n.2492+60A=)
c.2624+60A= (n.2624+60A=)
c.2453+60A= (n.2453+60A=)
c.2447+60A= (n.2447+60A=)
c.2426+60A= (n.2426+60A=)
c.2450+60A= (n.2450+60A=)
c.2414+60A= (n.2414+60A=)
c.2411+60A= (n.2411+60A=)
c.2444+60A= (n.2444+60A=)
c.402+60A=
c.1661+60A= (n.1661+60A=)
c.1658+60A= (n.1658+60A=)
c.336+60A=
5g.140979067A>CCA1082249899PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+60A>C (n.2492+60A>C)
c.2624+60A>C (n.2624+60A>C)
c.2453+60A>C (n.2453+60A>C)
c.2447+60A>C (n.2447+60A>C)
c.2426+60A>C (n.2426+60A>C)
c.2450+60A>C (n.2450+60A>C)
c.2414+60A>C (n.2414+60A>C)
c.2411+60A>C (n.2411+60A>C)
c.2444+60A>C (n.2444+60A>C)
c.402+60A>C
c.1661+60A>C (n.1661+60A>C)
c.1658+60A>C (n.1658+60A>C)
c.336+60A>C
 dbSNP gnomAD v3 gnomAD v4
5g.140979068C>GCA2578430006PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+61C>G (n.2492+61C>G)
c.2624+61C>G (n.2624+61C>G)
c.2453+61C>G (n.2453+61C>G)
c.2447+61C>G (n.2447+61C>G)
c.2426+61C>G (n.2426+61C>G)
c.2450+61C>G (n.2450+61C>G)
c.2414+61C>G (n.2414+61C>G)
c.2411+61C>G (n.2411+61C>G)
c.2444+61C>G (n.2444+61C>G)
c.402+61C>G
c.1661+61C>G (n.1661+61C>G)
c.1658+61C>G (n.1658+61C>G)
c.336+61C>G
 gnomAD v4
5g.140979072A>GCA2578430007PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+65A>G (n.2492+65A>G)
c.2624+65A>G (n.2624+65A>G)
c.2453+65A>G (n.2453+65A>G)
c.2447+65A>G (n.2447+65A>G)
c.2426+65A>G (n.2426+65A>G)
c.2450+65A>G (n.2450+65A>G)
c.2414+65A>G (n.2414+65A>G)
c.2411+65A>G (n.2411+65A>G)
c.2444+65A>G (n.2444+65A>G)
c.402+65A>G
c.1661+65A>G (n.1661+65A>G)
c.1658+65A>G (n.1658+65A>G)
c.336+65A>G
5g.140979073T>CCA2768658374PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+66T>C (n.2492+66T>C)
c.2624+66T>C (n.2624+66T>C)
c.2453+66T>C (n.2453+66T>C)
c.2447+66T>C (n.2447+66T>C)
c.2426+66T>C (n.2426+66T>C)
c.2450+66T>C (n.2450+66T>C)
c.2414+66T>C (n.2414+66T>C)
c.2411+66T>C (n.2411+66T>C)
c.2444+66T>C (n.2444+66T>C)
c.402+66T>C
c.1661+66T>C (n.1661+66T>C)
c.1658+66T>C (n.1658+66T>C)
c.336+66T>C
5g.140979074C>TCA2675642578PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2c.2492+67C>T (n.2492+67C>T)
c.2624+67C>T (n.2624+67C>T)
c.2453+67C>T (n.2453+67C>T)
c.2447+67C>T (n.2447+67C>T)
c.2426+67C>T (n.2426+67C>T)
c.2450+67C>T (n.2450+67C>T)
c.2414+67C>T (n.2414+67C>T)
c.2411+67C>T (n.2411+67C>T)
c.2444+67C>T (n.2444+67C>T)
c.402+67C>T
c.1661+67C>T (n.1661+67C>T)
c.1658+67C>T (n.1658+67C>T)
c.336+67C>T
 gnomAD v4

Number of alleles fetched