Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71799540_71799542delinsACTCA1918878920CDH23c.7273_7275delinsACT (p.Thr2425=)
c.1206_1208delinsACT (n.1206_1208delinsACT)
c.870_872delinsACT (n.870_872delinsACT)
c.7288_7290delinsACT (p.Thr2430=)
c.553_555delinsACT (p.Thr185=)
n.809_811delinsACT
c.7468_7470delinsACT (p.Thr2490=)
c.7402_7404delinsACT (p.Thr2468=)
c.7465_7467delinsACT (p.Thr2489=)
c.7462_7464delinsACT (p.Thr2488=)
c.7408_7410delinsACT (p.Thr2470=)
c.7378_7380delinsACT (p.Thr2460=)
c.7333_7335delinsACT (p.Thr2445=)
c.6928_6930delinsACT (p.Thr2310=)
c.6286_6288delinsACT (p.Thr2096=)
c.3796_3798delinsACT (p.Thr1266=)
10g.71799541C>ACA377159306CDH23c.7274C>A (p.Thr2425Asn)
c.1207C>A (n.1207C>A)
c.871C>A (n.871C>A)
c.7289C>A (p.Thr2430Asn)
c.554C>A (p.Thr185Asn)
n.810C>A
c.7469C>A (p.Thr2490Asn)
c.7403C>A (p.Thr2468Asn)
c.7466C>A (p.Thr2489Asn)
c.7463C>A (p.Thr2488Asn)
c.7409C>A (p.Thr2470Asn)
c.7379C>A (p.Thr2460Asn)
c.7334C>A (p.Thr2445Asn)
c.6929C>A (p.Thr2310Asn)
c.6287C>A (p.Thr2096Asn)
c.3797C>A (p.Thr1266Asn)
10g.71799541C=CA1918878921CDH23c.7274C= (p.Thr2425=)
c.1207C= (n.1207C=)
c.871C= (n.871C=)
c.7289C= (p.Thr2430=)
c.554C= (p.Thr185=)
n.810C=
c.7469C= (p.Thr2490=)
c.7403C= (p.Thr2468=)
c.7466C= (p.Thr2489=)
c.7463C= (p.Thr2488=)
c.7409C= (p.Thr2470=)
c.7379C= (p.Thr2460=)
c.7334C= (p.Thr2445=)
c.6929C= (p.Thr2310=)
c.6287C= (p.Thr2096=)
c.3797C= (p.Thr1266=)
10g.71799541C>GCA377159307CDH23c.7274C>G (p.Thr2425Ser)
c.1207C>G (n.1207C>G)
c.871C>G (n.871C>G)
c.7289C>G (p.Thr2430Ser)
c.554C>G (p.Thr185Ser)
n.810C>G
c.7469C>G (p.Thr2490Ser)
c.7403C>G (p.Thr2468Ser)
c.7466C>G (p.Thr2489Ser)
c.7463C>G (p.Thr2488Ser)
c.7409C>G (p.Thr2470Ser)
c.7379C>G (p.Thr2460Ser)
c.7334C>G (p.Thr2445Ser)
c.6929C>G (p.Thr2310Ser)
c.6287C>G (p.Thr2096Ser)
c.3797C>G (p.Thr1266Ser)
10g.71799541C>TCA377159308CDH23c.7274C>T (p.Thr2425Ile)
c.1207C>T (n.1207C>T)
c.871C>T (n.871C>T)
c.7289C>T (p.Thr2430Ile)
c.554C>T (p.Thr185Ile)
n.810C>T
c.7469C>T (p.Thr2490Ile)
c.7403C>T (p.Thr2468Ile)
c.7466C>T (p.Thr2489Ile)
c.7463C>T (p.Thr2488Ile)
c.7409C>T (p.Thr2470Ile)
c.7379C>T (p.Thr2460Ile)
c.7334C>T (p.Thr2445Ile)
c.6929C>T (p.Thr2310Ile)
c.6287C>T (p.Thr2096Ile)
c.3797C>T (p.Thr1266Ile)
 dbSNP
10g.71799541_71799542delCA929793068CDH23c.7274_7275del (p.Thr2425SerfsTer3)
c.1207_1208del (n.1207_1208del)
c.871_872del (n.871_872del)
c.7289_7290del (p.Thr2430SerfsTer3)
c.554_555del (p.Thr185SerfsTer3)
n.810_811del
c.7469_7470del (p.Thr2490SerfsTer3)
c.7403_7404del (p.Thr2468SerfsTer3)
c.7466_7467del (p.Thr2489SerfsTer3)
c.7463_7464del (p.Thr2488SerfsTer3)
c.7409_7410del (p.Thr2470SerfsTer3)
c.7379_7380del (p.Thr2460SerfsTer3)
c.7334_7335del (p.Thr2445SerfsTer3)
c.6929_6930del (p.Thr2310SerfsTer3)
c.6287_6288del (p.Thr2096SerfsTer3)
c.3797_3798del (p.Thr1266SerfsTer3)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71799542T>ACA470282087CDH23c.7275T>A (p.Thr2425=)
c.1208T>A (n.1208T>A)
c.872T>A (n.872T>A)
c.7290T>A (p.Thr2430=)
c.555T>A (p.Thr185=)
n.811T>A
c.7470T>A (p.Thr2490=)
c.7404T>A (p.Thr2468=)
c.7467T>A (p.Thr2489=)
c.7464T>A (p.Thr2488=)
c.7410T>A (p.Thr2470=)
c.7380T>A (p.Thr2460=)
c.7335T>A (p.Thr2445=)
c.6930T>A (p.Thr2310=)
c.6288T>A (p.Thr2096=)
c.3798T>A (p.Thr1266=)
10g.71799542T>CCA470282088CDH23c.7275T>C (p.Thr2425=)
c.1208T>C (n.1208T>C)
c.872T>C (n.872T>C)
c.7290T>C (p.Thr2430=)
c.555T>C (p.Thr185=)
n.811T>C
c.7470T>C (p.Thr2490=)
c.7404T>C (p.Thr2468=)
c.7467T>C (p.Thr2489=)
c.7464T>C (p.Thr2488=)
c.7410T>C (p.Thr2470=)
c.7380T>C (p.Thr2460=)
c.7335T>C (p.Thr2445=)
c.6930T>C (p.Thr2310=)
c.6288T>C (p.Thr2096=)
c.3798T>C (p.Thr1266=)
10g.71799542T>GCA470282090CDH23c.7275T>G (p.Thr2425=)
c.1208T>G (n.1208T>G)
c.872T>G (n.872T>G)
c.7290T>G (p.Thr2430=)
c.555T>G (p.Thr185=)
n.811T>G
c.7470T>G (p.Thr2490=)
c.7404T>G (p.Thr2468=)
c.7467T>G (p.Thr2489=)
c.7464T>G (p.Thr2488=)
c.7410T>G (p.Thr2470=)
c.7380T>G (p.Thr2460=)
c.7335T>G (p.Thr2445=)
c.6930T>G (p.Thr2310=)
c.6288T>G (p.Thr2096=)
c.3798T>G (p.Thr1266=)
10g.71799543G>ACA377159310CDH23c.7276G>A (p.Ala2426Thr)
c.1209G>A (n.1209G>A)
c.873G>A (n.873G>A)
c.7291G>A (p.Ala2431Thr)
c.556G>A (p.Ala186Thr)
n.812G>A
c.7471G>A (p.Ala2491Thr)
c.7405G>A (p.Ala2469Thr)
c.7468G>A (p.Ala2490Thr)
c.7465G>A (p.Ala2489Thr)
c.7411G>A (p.Ala2471Thr)
c.7381G>A (p.Ala2461Thr)
c.7336G>A (p.Ala2446Thr)
c.6931G>A (p.Ala2311Thr)
c.6289G>A (p.Ala2097Thr)
c.3799G>A (p.Ala1267Thr)
10g.71799543G>CCA377159312CDH23c.7276G>C (p.Ala2426Pro)
c.1209G>C (n.1209G>C)
c.873G>C (n.873G>C)
c.7291G>C (p.Ala2431Pro)
c.556G>C (p.Ala186Pro)
n.812G>C
c.7471G>C (p.Ala2491Pro)
c.7405G>C (p.Ala2469Pro)
c.7468G>C (p.Ala2490Pro)
c.7465G>C (p.Ala2489Pro)
c.7411G>C (p.Ala2471Pro)
c.7381G>C (p.Ala2461Pro)
c.7336G>C (p.Ala2446Pro)
c.6931G>C (p.Ala2311Pro)
c.6289G>C (p.Ala2097Pro)
c.3799G>C (p.Ala1267Pro)
10g.71799543G>TCA377159316CDH23c.7276G>T (p.Ala2426Ser)
c.1209G>T (n.1209G>T)
c.873G>T (n.873G>T)
c.7291G>T (p.Ala2431Ser)
c.556G>T (p.Ala186Ser)
n.812G>T
c.7471G>T (p.Ala2491Ser)
c.7405G>T (p.Ala2469Ser)
c.7468G>T (p.Ala2490Ser)
c.7465G>T (p.Ala2489Ser)
c.7411G>T (p.Ala2471Ser)
c.7381G>T (p.Ala2461Ser)
c.7336G>T (p.Ala2446Ser)
c.6931G>T (p.Ala2311Ser)
c.6289G>T (p.Ala2097Ser)
c.3799G>T (p.Ala1267Ser)
10g.71799544C>ACA377159317CDH23c.7277C>A (p.Ala2426Asp)
c.1210C>A (n.1210C>A)
c.874C>A (n.874C>A)
c.7292C>A (p.Ala2431Asp)
c.557C>A (p.Ala186Asp)
n.813C>A
c.7472C>A (p.Ala2491Asp)
c.7406C>A (p.Ala2469Asp)
c.7469C>A (p.Ala2490Asp)
c.7466C>A (p.Ala2489Asp)
c.7412C>A (p.Ala2471Asp)
c.7382C>A (p.Ala2461Asp)
c.7337C>A (p.Ala2446Asp)
c.6932C>A (p.Ala2311Asp)
c.6290C>A (p.Ala2097Asp)
c.3800C>A (p.Ala1267Asp)
 ClinVar dbSNP
10g.71799544C=CA1918878922CDH23c.7277C= (p.Ala2426=)
c.1210C= (n.1210C=)
c.874C= (n.874C=)
c.7292C= (p.Ala2431=)
c.557C= (p.Ala186=)
n.813C=
c.7472C= (p.Ala2491=)
c.7406C= (p.Ala2469=)
c.7469C= (p.Ala2490=)
c.7466C= (p.Ala2489=)
c.7412C= (p.Ala2471=)
c.7382C= (p.Ala2461=)
c.7337C= (p.Ala2446=)
c.6932C= (p.Ala2311=)
c.6290C= (p.Ala2097=)
c.3800C= (p.Ala1267=)
10g.71799544C>GCA377159320CDH23c.7277C>G (p.Ala2426Gly)
c.1210C>G (n.1210C>G)
c.874C>G (n.874C>G)
c.7292C>G (p.Ala2431Gly)
c.557C>G (p.Ala186Gly)
n.813C>G
c.7472C>G (p.Ala2491Gly)
c.7406C>G (p.Ala2469Gly)
c.7469C>G (p.Ala2490Gly)
c.7466C>G (p.Ala2489Gly)
c.7412C>G (p.Ala2471Gly)
c.7382C>G (p.Ala2461Gly)
c.7337C>G (p.Ala2446Gly)
c.6932C>G (p.Ala2311Gly)
c.6290C>G (p.Ala2097Gly)
c.3800C>G (p.Ala1267Gly)
10g.71799544C>TCA377159318CDH23c.7277C>T (p.Ala2426Val)
c.1210C>T (n.1210C>T)
c.874C>T (n.874C>T)
c.7292C>T (p.Ala2431Val)
c.557C>T (p.Ala186Val)
n.813C>T
c.7472C>T (p.Ala2491Val)
c.7406C>T (p.Ala2469Val)
c.7469C>T (p.Ala2490Val)
c.7466C>T (p.Ala2489Val)
c.7412C>T (p.Ala2471Val)
c.7382C>T (p.Ala2461Val)
c.7337C>T (p.Ala2446Val)
c.6932C>T (p.Ala2311Val)
c.6290C>T (p.Ala2097Val)
c.3800C>T (p.Ala1267Val)
 dbSNP gnomAD v4
10g.71799545C>ACA470282091CDH23c.7278C>A (p.Ala2426=)
c.1211C>A (n.1211C>A)
c.875C>A (n.875C>A)
c.7293C>A (p.Ala2431=)
c.558C>A (p.Ala186=)
n.814C>A
c.7473C>A (p.Ala2491=)
c.7407C>A (p.Ala2469=)
c.7470C>A (p.Ala2490=)
c.7467C>A (p.Ala2489=)
c.7413C>A (p.Ala2471=)
c.7383C>A (p.Ala2461=)
c.7338C>A (p.Ala2446=)
c.6933C>A (p.Ala2311=)
c.6291C>A (p.Ala2097=)
c.3801C>A (p.Ala1267=)
10g.71799545C>GCA470282092CDH23c.7278C>G (p.Ala2426=)
c.1211C>G (n.1211C>G)
c.875C>G (n.875C>G)
c.7293C>G (p.Ala2431=)
c.558C>G (p.Ala186=)
n.814C>G
c.7473C>G (p.Ala2491=)
c.7407C>G (p.Ala2469=)
c.7470C>G (p.Ala2490=)
c.7467C>G (p.Ala2489=)
c.7413C>G (p.Ala2471=)
c.7383C>G (p.Ala2461=)
c.7338C>G (p.Ala2446=)
c.6933C>G (p.Ala2311=)
c.6291C>G (p.Ala2097=)
c.3801C>G (p.Ala1267=)
10g.71799545C>TCA470282094CDH23c.7278C>T (p.Ala2426=)
c.1211C>T (n.1211C>T)
c.875C>T (n.875C>T)
c.7293C>T (p.Ala2431=)
c.558C>T (p.Ala186=)
n.814C>T
c.7473C>T (p.Ala2491=)
c.7407C>T (p.Ala2469=)
c.7470C>T (p.Ala2490=)
c.7467C>T (p.Ala2489=)
c.7413C>T (p.Ala2471=)
c.7383C>T (p.Ala2461=)
c.7338C>T (p.Ala2446=)
c.6933C>T (p.Ala2311=)
c.6291C>T (p.Ala2097=)
c.3801C>T (p.Ala1267=)
10g.71799546delCA2695212113CDH23c.7279del (p.Thr2427LeufsTer?)
c.1212del (n.1212del)
c.876del (n.876del)
c.7294del (p.Thr2432LeufsTer?)
c.559del (p.Thr187LeufsTer?)
n.815del
c.7474del (p.Thr2492LeufsTer?)
c.7408del (p.Thr2470LeufsTer?)
c.7471del (p.Thr2491LeufsTer?)
c.7468del (p.Thr2490LeufsTer?)
c.7414del (p.Thr2472LeufsTer?)
c.7384del (p.Thr2462LeufsTer?)
c.7339del (p.Thr2447LeufsTer?)
c.6934del (p.Thr2312LeufsTer?)
c.6292del (p.Thr2098LeufsTer?)
c.3802del (p.Thr1268LeufsTer?)
10g.71799546A>CCA377159323CDH23c.7279A>C (p.Thr2427Pro)
c.1212A>C (n.1212A>C)
c.876A>C (n.876A>C)
c.7294A>C (p.Thr2432Pro)
c.559A>C (p.Thr187Pro)
n.815A>C
c.7474A>C (p.Thr2492Pro)
c.7408A>C (p.Thr2470Pro)
c.7471A>C (p.Thr2491Pro)
c.7468A>C (p.Thr2490Pro)
c.7414A>C (p.Thr2472Pro)
c.7384A>C (p.Thr2462Pro)
c.7339A>C (p.Thr2447Pro)
c.6934A>C (p.Thr2312Pro)
c.6292A>C (p.Thr2098Pro)
c.3802A>C (p.Thr1268Pro)
10g.71799546A>GCA377159324CDH23c.7279A>G (p.Thr2427Ala)
c.1212A>G (n.1212A>G)
c.876A>G (n.876A>G)
c.7294A>G (p.Thr2432Ala)
c.559A>G (p.Thr187Ala)
n.815A>G
c.7474A>G (p.Thr2492Ala)
c.7408A>G (p.Thr2470Ala)
c.7471A>G (p.Thr2491Ala)
c.7468A>G (p.Thr2490Ala)
c.7414A>G (p.Thr2472Ala)
c.7384A>G (p.Thr2462Ala)
c.7339A>G (p.Thr2447Ala)
c.6934A>G (p.Thr2312Ala)
c.6292A>G (p.Thr2098Ala)
c.3802A>G (p.Thr1268Ala)
10g.71799546A>TCA377159326CDH23c.7279A>T (p.Thr2427Ser)
c.1212A>T (n.1212A>T)
c.876A>T (n.876A>T)
c.7294A>T (p.Thr2432Ser)
c.559A>T (p.Thr187Ser)
n.815A>T
c.7474A>T (p.Thr2492Ser)
c.7408A>T (p.Thr2470Ser)
c.7471A>T (p.Thr2491Ser)
c.7468A>T (p.Thr2490Ser)
c.7414A>T (p.Thr2472Ser)
c.7384A>T (p.Thr2462Ser)
c.7339A>T (p.Thr2447Ser)
c.6934A>T (p.Thr2312Ser)
c.6292A>T (p.Thr2098Ser)
c.3802A>T (p.Thr1268Ser)
10g.71799547C>ACA377159328CDH23c.7280C>A (p.Thr2427Asn)
c.1213C>A (n.1213C>A)
c.877C>A (n.877C>A)
c.7295C>A (p.Thr2432Asn)
c.560C>A (p.Thr187Asn)
n.816C>A
c.7475C>A (p.Thr2492Asn)
c.7409C>A (p.Thr2470Asn)
c.7472C>A (p.Thr2491Asn)
c.7469C>A (p.Thr2490Asn)
c.7415C>A (p.Thr2472Asn)
c.7385C>A (p.Thr2462Asn)
c.7340C>A (p.Thr2447Asn)
c.6935C>A (p.Thr2312Asn)
c.6293C>A (p.Thr2098Asn)
c.3803C>A (p.Thr1268Asn)
10g.71799547C>GCA377159330CDH23c.7280C>G (p.Thr2427Ser)
c.1213C>G (n.1213C>G)
c.877C>G (n.877C>G)
c.7295C>G (p.Thr2432Ser)
c.560C>G (p.Thr187Ser)
n.816C>G
c.7475C>G (p.Thr2492Ser)
c.7409C>G (p.Thr2470Ser)
c.7472C>G (p.Thr2491Ser)
c.7469C>G (p.Thr2490Ser)
c.7415C>G (p.Thr2472Ser)
c.7385C>G (p.Thr2462Ser)
c.7340C>G (p.Thr2447Ser)
c.6935C>G (p.Thr2312Ser)
c.6293C>G (p.Thr2098Ser)
c.3803C>G (p.Thr1268Ser)
 gnomAD v4
10g.71799547C>TCA377159331CDH23c.7280C>T (p.Thr2427Ile)
c.1213C>T (n.1213C>T)
c.877C>T (n.877C>T)
c.7295C>T (p.Thr2432Ile)
c.560C>T (p.Thr187Ile)
n.816C>T
c.7475C>T (p.Thr2492Ile)
c.7409C>T (p.Thr2470Ile)
c.7472C>T (p.Thr2491Ile)
c.7469C>T (p.Thr2490Ile)
c.7415C>T (p.Thr2472Ile)
c.7385C>T (p.Thr2462Ile)
c.7340C>T (p.Thr2447Ile)
c.6935C>T (p.Thr2312Ile)
c.6293C>T (p.Thr2098Ile)
c.3803C>T (p.Thr1268Ile)
10g.71799548T>ACA470282097CDH23c.7281T>A (p.Thr2427=)
c.1214T>A (n.1214T>A)
c.878T>A (n.878T>A)
c.7296T>A (p.Thr2432=)
c.561T>A (p.Thr187=)
n.817T>A
c.7476T>A (p.Thr2492=)
c.7410T>A (p.Thr2470=)
c.7473T>A (p.Thr2491=)
c.7470T>A (p.Thr2490=)
c.7416T>A (p.Thr2472=)
c.7386T>A (p.Thr2462=)
c.7341T>A (p.Thr2447=)
c.6936T>A (p.Thr2312=)
c.6294T>A (p.Thr2098=)
c.3804T>A (p.Thr1268=)
10g.71799548T>CCA470282098CDH23c.7281T>C (p.Thr2427=)
c.1214T>C (n.1214T>C)
c.878T>C (n.878T>C)
c.7296T>C (p.Thr2432=)
c.561T>C (p.Thr187=)
n.817T>C
c.7476T>C (p.Thr2492=)
c.7410T>C (p.Thr2470=)
c.7473T>C (p.Thr2491=)
c.7470T>C (p.Thr2490=)
c.7416T>C (p.Thr2472=)
c.7386T>C (p.Thr2462=)
c.7341T>C (p.Thr2447=)
c.6936T>C (p.Thr2312=)
c.6294T>C (p.Thr2098=)
c.3804T>C (p.Thr1268=)
10g.71799548T>GCA470282099CDH23c.7281T>G (p.Thr2427=)
c.1214T>G (n.1214T>G)
c.878T>G (n.878T>G)
c.7296T>G (p.Thr2432=)
c.561T>G (p.Thr187=)
n.817T>G
c.7476T>G (p.Thr2492=)
c.7410T>G (p.Thr2470=)
c.7473T>G (p.Thr2491=)
c.7470T>G (p.Thr2490=)
c.7416T>G (p.Thr2472=)
c.7386T>G (p.Thr2462=)
c.7341T>G (p.Thr2447=)
c.6936T>G (p.Thr2312=)
c.6294T>G (p.Thr2098=)
c.3804T>G (p.Thr1268=)
10g.71799549G>ACA377159332CDH23c.7282G>A (p.Asp2428Asn)
c.1215G>A (n.1215G>A)
c.879G>A (n.879G>A)
c.7297G>A (p.Asp2433Asn)
c.562G>A (p.Asp188Asn)
n.818G>A
c.7477G>A (p.Asp2493Asn)
c.7411G>A (p.Asp2471Asn)
c.7474G>A (p.Asp2492Asn)
c.7471G>A (p.Asp2491Asn)
c.7417G>A (p.Asp2473Asn)
c.7387G>A (p.Asp2463Asn)
c.7342G>A (p.Asp2448Asn)
c.6937G>A (p.Asp2313Asn)
c.6295G>A (p.Asp2099Asn)
c.3805G>A (p.Asp1269Asn)
10g.71799549G>CCA377159334CDH23c.7282G>C (p.Asp2428His)
c.1215G>C (n.1215G>C)
c.879G>C (n.879G>C)
c.7297G>C (p.Asp2433His)
c.562G>C (p.Asp188His)
n.818G>C
c.7477G>C (p.Asp2493His)
c.7411G>C (p.Asp2471His)
c.7474G>C (p.Asp2492His)
c.7471G>C (p.Asp2491His)
c.7417G>C (p.Asp2473His)
c.7387G>C (p.Asp2463His)
c.7342G>C (p.Asp2448His)
c.6937G>C (p.Asp2313His)
c.6295G>C (p.Asp2099His)
c.3805G>C (p.Asp1269His)
10g.71799549G>TCA377159335CDH23c.7282G>T (p.Asp2428Tyr)
c.1215G>T (n.1215G>T)
c.879G>T (n.879G>T)
c.7297G>T (p.Asp2433Tyr)
c.562G>T (p.Asp188Tyr)
n.818G>T
c.7477G>T (p.Asp2493Tyr)
c.7411G>T (p.Asp2471Tyr)
c.7474G>T (p.Asp2492Tyr)
c.7471G>T (p.Asp2491Tyr)
c.7417G>T (p.Asp2473Tyr)
c.7387G>T (p.Asp2463Tyr)
c.7342G>T (p.Asp2448Tyr)
c.6937G>T (p.Asp2313Tyr)
c.6295G>T (p.Asp2099Tyr)
c.3805G>T (p.Asp1269Tyr)
10g.71799550A>CCA377159336CDH23c.7283A>C (p.Asp2428Ala)
c.1216A>C (n.1216A>C)
c.880A>C (n.880A>C)
c.7298A>C (p.Asp2433Ala)
c.563A>C (p.Asp188Ala)
n.819A>C
c.7478A>C (p.Asp2493Ala)
c.7412A>C (p.Asp2471Ala)
c.7475A>C (p.Asp2492Ala)
c.7472A>C (p.Asp2491Ala)
c.7418A>C (p.Asp2473Ala)
c.7388A>C (p.Asp2463Ala)
c.7343A>C (p.Asp2448Ala)
c.6938A>C (p.Asp2313Ala)
c.6296A>C (p.Asp2099Ala)
c.3806A>C (p.Asp1269Ala)
10g.71799550A>GCA377159337CDH23c.7283A>G (p.Asp2428Gly)
c.1216A>G (n.1216A>G)
c.880A>G (n.880A>G)
c.7298A>G (p.Asp2433Gly)
c.563A>G (p.Asp188Gly)
n.819A>G
c.7478A>G (p.Asp2493Gly)
c.7412A>G (p.Asp2471Gly)
c.7475A>G (p.Asp2492Gly)
c.7472A>G (p.Asp2491Gly)
c.7418A>G (p.Asp2473Gly)
c.7388A>G (p.Asp2463Gly)
c.7343A>G (p.Asp2448Gly)
c.6938A>G (p.Asp2313Gly)
c.6296A>G (p.Asp2099Gly)
c.3806A>G (p.Asp1269Gly)
10g.71799550A>TCA377159339CDH23c.7283A>T (p.Asp2428Val)
c.1216A>T (n.1216A>T)
c.880A>T (n.880A>T)
c.7298A>T (p.Asp2433Val)
c.563A>T (p.Asp188Val)
n.819A>T
c.7478A>T (p.Asp2493Val)
c.7412A>T (p.Asp2471Val)
c.7475A>T (p.Asp2492Val)
c.7472A>T (p.Asp2491Val)
c.7418A>T (p.Asp2473Val)
c.7388A>T (p.Asp2463Val)
c.7343A>T (p.Asp2448Val)
c.6938A>T (p.Asp2313Val)
c.6296A>T (p.Asp2099Val)
c.3806A>T (p.Asp1269Val)
10g.71799551T>ACA377159350CDH23c.7284T>A (p.Asp2428Glu)
c.1217T>A (n.1217T>A)
c.881T>A (n.881T>A)
c.7299T>A (p.Asp2433Glu)
c.564T>A (p.Asp188Glu)
n.820T>A
c.7479T>A (p.Asp2493Glu)
c.7413T>A (p.Asp2471Glu)
c.7476T>A (p.Asp2492Glu)
c.7473T>A (p.Asp2491Glu)
c.7419T>A (p.Asp2473Glu)
c.7389T>A (p.Asp2463Glu)
c.7344T>A (p.Asp2448Glu)
c.6939T>A (p.Asp2313Glu)
c.6297T>A (p.Asp2099Glu)
c.3807T>A (p.Asp1269Glu)
 gnomAD v4
10g.71799551T>CCA5546299CDH23c.7284T>C (p.Asp2428=)
c.1217T>C (n.1217T>C)
c.881T>C (n.881T>C)
c.7299T>C (p.Asp2433=)
c.564T>C (p.Asp188=)
n.820T>C
c.7479T>C (p.Asp2493=)
c.7413T>C (p.Asp2471=)
c.7476T>C (p.Asp2492=)
c.7473T>C (p.Asp2491=)
c.7419T>C (p.Asp2473=)
c.7389T>C (p.Asp2463=)
c.7344T>C (p.Asp2448=)
c.6939T>C (p.Asp2313=)
c.6297T>C (p.Asp2099=)
c.3807T>C (p.Asp1269=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71799551T>GCA377159348CDH23c.7284T>G (p.Asp2428Glu)
c.1217T>G (n.1217T>G)
c.881T>G (n.881T>G)
c.7299T>G (p.Asp2433Glu)
c.564T>G (p.Asp188Glu)
n.820T>G
c.7479T>G (p.Asp2493Glu)
c.7413T>G (p.Asp2471Glu)
c.7476T>G (p.Asp2492Glu)
c.7473T>G (p.Asp2491Glu)
c.7419T>G (p.Asp2473Glu)
c.7389T>G (p.Asp2463Glu)
c.7344T>G (p.Asp2448Glu)
c.6939T>G (p.Asp2313Glu)
c.6297T>G (p.Asp2099Glu)
c.3807T>G (p.Asp1269Glu)
10g.71799551T=CA1918878923CDH23c.7284T= (p.Asp2428=)
c.1217T= (n.1217T=)
c.881T= (n.881T=)
c.7299T= (p.Asp2433=)
c.564T= (p.Asp188=)
n.820T=
c.7479T= (p.Asp2493=)
c.7413T= (p.Asp2471=)
c.7476T= (p.Asp2492=)
c.7473T= (p.Asp2491=)
c.7419T= (p.Asp2473=)
c.7389T= (p.Asp2463=)
c.7344T= (p.Asp2448=)
c.6939T= (p.Asp2313=)
c.6297T= (p.Asp2099=)
c.3807T= (p.Asp1269=)
10g.71799552G>ACA377159355CDH23c.7285G>A (p.Ala2429Thr)
c.1218G>A (n.1218G>A)
c.882G>A (n.882G>A)
c.7300G>A (p.Ala2434Thr)
c.565G>A (p.Ala189Thr)
n.821G>A
c.7480G>A (p.Ala2494Thr)
c.7414G>A (p.Ala2472Thr)
c.7477G>A (p.Ala2493Thr)
c.7474G>A (p.Ala2492Thr)
c.7420G>A (p.Ala2474Thr)
c.7390G>A (p.Ala2464Thr)
c.7345G>A (p.Ala2449Thr)
c.6940G>A (p.Ala2314Thr)
c.6298G>A (p.Ala2100Thr)
c.3808G>A (p.Ala1270Thr)
10g.71799552G>CCA377159359CDH23c.7285G>C (p.Ala2429Pro)
c.1218G>C (n.1218G>C)
c.882G>C (n.882G>C)
c.7300G>C (p.Ala2434Pro)
c.565G>C (p.Ala189Pro)
n.821G>C
c.7480G>C (p.Ala2494Pro)
c.7414G>C (p.Ala2472Pro)
c.7477G>C (p.Ala2493Pro)
c.7474G>C (p.Ala2492Pro)
c.7420G>C (p.Ala2474Pro)
c.7390G>C (p.Ala2464Pro)
c.7345G>C (p.Ala2449Pro)
c.6940G>C (p.Ala2314Pro)
c.6298G>C (p.Ala2100Pro)
c.3808G>C (p.Ala1270Pro)
10g.71799552G>TCA377159360CDH23c.7285G>T (p.Ala2429Ser)
c.1218G>T (n.1218G>T)
c.882G>T (n.882G>T)
c.7300G>T (p.Ala2434Ser)
c.565G>T (p.Ala189Ser)
n.821G>T
c.7480G>T (p.Ala2494Ser)
c.7414G>T (p.Ala2472Ser)
c.7477G>T (p.Ala2493Ser)
c.7474G>T (p.Ala2492Ser)
c.7420G>T (p.Ala2474Ser)
c.7390G>T (p.Ala2464Ser)
c.7345G>T (p.Ala2449Ser)
c.6940G>T (p.Ala2314Ser)
c.6298G>T (p.Ala2100Ser)
c.3808G>T (p.Ala1270Ser)
10g.71799553C>ACA377159363CDH23c.7286C>A (p.Ala2429Asp)
c.1219C>A (n.1219C>A)
c.883C>A (n.883C>A)
c.7301C>A (p.Ala2434Asp)
c.566C>A (p.Ala189Asp)
n.822C>A
c.7481C>A (p.Ala2494Asp)
c.7415C>A (p.Ala2472Asp)
c.7478C>A (p.Ala2493Asp)
c.7475C>A (p.Ala2492Asp)
c.7421C>A (p.Ala2474Asp)
c.7391C>A (p.Ala2464Asp)
c.7346C>A (p.Ala2449Asp)
c.6941C>A (p.Ala2314Asp)
c.6299C>A (p.Ala2100Asp)
c.3809C>A (p.Ala1270Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71799553C=CA1918878924CDH23c.7286C= (p.Ala2429=)
c.1219C= (n.1219C=)
c.883C= (n.883C=)
c.7301C= (p.Ala2434=)
c.566C= (p.Ala189=)
n.822C=
c.7481C= (p.Ala2494=)
c.7415C= (p.Ala2472=)
c.7478C= (p.Ala2493=)
c.7475C= (p.Ala2492=)
c.7421C= (p.Ala2474=)
c.7391C= (p.Ala2464=)
c.7346C= (p.Ala2449=)
c.6941C= (p.Ala2314=)
c.6299C= (p.Ala2100=)
c.3809C= (p.Ala1270=)
10g.71799553C>GCA377159364CDH23c.7286C>G (p.Ala2429Gly)
c.1219C>G (n.1219C>G)
c.883C>G (n.883C>G)
c.7301C>G (p.Ala2434Gly)
c.566C>G (p.Ala189Gly)
n.822C>G
c.7481C>G (p.Ala2494Gly)
c.7415C>G (p.Ala2472Gly)
c.7478C>G (p.Ala2493Gly)
c.7475C>G (p.Ala2492Gly)
c.7421C>G (p.Ala2474Gly)
c.7391C>G (p.Ala2464Gly)
c.7346C>G (p.Ala2449Gly)
c.6941C>G (p.Ala2314Gly)
c.6299C>G (p.Ala2100Gly)
c.3809C>G (p.Ala1270Gly)
10g.71799553C>TCA377159367CDH23c.7286C>T (p.Ala2429Val)
c.1219C>T (n.1219C>T)
c.883C>T (n.883C>T)
c.7301C>T (p.Ala2434Val)
c.566C>T (p.Ala189Val)
n.822C>T
c.7481C>T (p.Ala2494Val)
c.7415C>T (p.Ala2472Val)
c.7478C>T (p.Ala2493Val)
c.7475C>T (p.Ala2492Val)
c.7421C>T (p.Ala2474Val)
c.7391C>T (p.Ala2464Val)
c.7346C>T (p.Ala2449Val)
c.6941C>T (p.Ala2314Val)
c.6299C>T (p.Ala2100Val)
c.3809C>T (p.Ala1270Val)
10g.71799554T>ACA470282101CDH23c.7287T>A (p.Ala2429=)
c.1220T>A (n.1220T>A)
c.884T>A (n.884T>A)
c.7302T>A (p.Ala2434=)
c.567T>A (p.Ala189=)
n.823T>A
c.7482T>A (p.Ala2494=)
c.7416T>A (p.Ala2472=)
c.7479T>A (p.Ala2493=)
c.7476T>A (p.Ala2492=)
c.7422T>A (p.Ala2474=)
c.7392T>A (p.Ala2464=)
c.7347T>A (p.Ala2449=)
c.6942T>A (p.Ala2314=)
c.6300T>A (p.Ala2100=)
c.3810T>A (p.Ala1270=)
10g.71799554T>CCA470282102CDH23c.7287T>C (p.Ala2429=)
c.1220T>C (n.1220T>C)
c.884T>C (n.884T>C)
c.7302T>C (p.Ala2434=)
c.567T>C (p.Ala189=)
n.823T>C
c.7482T>C (p.Ala2494=)
c.7416T>C (p.Ala2472=)
c.7479T>C (p.Ala2493=)
c.7476T>C (p.Ala2492=)
c.7422T>C (p.Ala2474=)
c.7392T>C (p.Ala2464=)
c.7347T>C (p.Ala2449=)
c.6942T>C (p.Ala2314=)
c.6300T>C (p.Ala2100=)
c.3810T>C (p.Ala1270=)
10g.71799554T>GCA470282103CDH23c.7287T>G (p.Ala2429=)
c.1220T>G (n.1220T>G)
c.884T>G (n.884T>G)
c.7302T>G (p.Ala2434=)
c.567T>G (p.Ala189=)
n.823T>G
c.7482T>G (p.Ala2494=)
c.7416T>G (p.Ala2472=)
c.7479T>G (p.Ala2493=)
c.7476T>G (p.Ala2492=)
c.7422T>G (p.Ala2474=)
c.7392T>G (p.Ala2464=)
c.7347T>G (p.Ala2449=)
c.6942T>G (p.Ala2314=)
c.6300T>G (p.Ala2100=)
c.3810T>G (p.Ala1270=)
 dbSNP gnomAD v2 gnomAD v4
10g.71799554T=CA1918878925CDH23c.7287T= (p.Ala2429=)
c.1220T= (n.1220T=)
c.884T= (n.884T=)
c.7302T= (p.Ala2434=)
c.567T= (p.Ala189=)
n.823T=
c.7482T= (p.Ala2494=)
c.7416T= (p.Ala2472=)
c.7479T= (p.Ala2493=)
c.7476T= (p.Ala2492=)
c.7422T= (p.Ala2474=)
c.7392T= (p.Ala2464=)
c.7347T= (p.Ala2449=)
c.6942T= (p.Ala2314=)
c.6300T= (p.Ala2100=)
c.3810T= (p.Ala1270=)
10g.71799555G>ACA377159369CDH23c.7288G>A (p.Asp2430Asn)
c.1221G>A (n.1221G>A)
c.885G>A (n.885G>A)
c.7303G>A (p.Asp2435Asn)
c.568G>A (p.Asp190Asn)
n.824G>A
c.7483G>A (p.Asp2495Asn)
c.7417G>A (p.Asp2473Asn)
c.7480G>A (p.Asp2494Asn)
c.7477G>A (p.Asp2493Asn)
c.7423G>A (p.Asp2475Asn)
c.7393G>A (p.Asp2465Asn)
c.7348G>A (p.Asp2450Asn)
c.6943G>A (p.Asp2315Asn)
c.6301G>A (p.Asp2101Asn)
c.3811G>A (p.Asp1271Asn)
 ClinVar dbSNP COSMIC
10g.71799555G>CCA377159373CDH23c.7288G>C (p.Asp2430His)
c.1221G>C (n.1221G>C)
c.885G>C (n.885G>C)
c.7303G>C (p.Asp2435His)
c.568G>C (p.Asp190His)
n.824G>C
c.7483G>C (p.Asp2495His)
c.7417G>C (p.Asp2473His)
c.7480G>C (p.Asp2494His)
c.7477G>C (p.Asp2493His)
c.7423G>C (p.Asp2475His)
c.7393G>C (p.Asp2465His)
c.7348G>C (p.Asp2450His)
c.6943G>C (p.Asp2315His)
c.6301G>C (p.Asp2101His)
c.3811G>C (p.Asp1271His)
10g.71799555G>TCA377159371CDH23c.7288G>T (p.Asp2430Tyr)
c.1221G>T (n.1221G>T)
c.885G>T (n.885G>T)
c.7303G>T (p.Asp2435Tyr)
c.568G>T (p.Asp190Tyr)
n.824G>T
c.7483G>T (p.Asp2495Tyr)
c.7417G>T (p.Asp2473Tyr)
c.7480G>T (p.Asp2494Tyr)
c.7477G>T (p.Asp2493Tyr)
c.7423G>T (p.Asp2475Tyr)
c.7393G>T (p.Asp2465Tyr)
c.7348G>T (p.Asp2450Tyr)
c.6943G>T (p.Asp2315Tyr)
c.6301G>T (p.Asp2101Tyr)
c.3811G>T (p.Asp1271Tyr)
10g.71799556A=CA1918878926CDH23c.7289A= (p.Asp2430=)
c.1222A= (n.1222A=)
c.886A= (n.886A=)
c.7304A= (p.Asp2435=)
c.569A= (p.Asp190=)
n.825A=
c.7484A= (p.Asp2495=)
c.7418A= (p.Asp2473=)
c.7481A= (p.Asp2494=)
c.7478A= (p.Asp2493=)
c.7424A= (p.Asp2475=)
c.7394A= (p.Asp2465=)
c.7349A= (p.Asp2450=)
c.6944A= (p.Asp2315=)
c.6302A= (p.Asp2101=)
c.3812A= (p.Asp1271=)
10g.71799556A>CCA5546300CDH23c.7289A>C (p.Asp2430Ala)
c.1222A>C (n.1222A>C)
c.886A>C (n.886A>C)
c.7304A>C (p.Asp2435Ala)
c.569A>C (p.Asp190Ala)
n.825A>C
c.7484A>C (p.Asp2495Ala)
c.7418A>C (p.Asp2473Ala)
c.7481A>C (p.Asp2494Ala)
c.7478A>C (p.Asp2493Ala)
c.7424A>C (p.Asp2475Ala)
c.7394A>C (p.Asp2465Ala)
c.7349A>C (p.Asp2450Ala)
c.6944A>C (p.Asp2315Ala)
c.6302A>C (p.Asp2101Ala)
c.3812A>C (p.Asp1271Ala)
 dbSNP ExAC gnomAD v2
10g.71799556A>GCA377159375CDH23c.7289A>G (p.Asp2430Gly)
c.1222A>G (n.1222A>G)
c.886A>G (n.886A>G)
c.7304A>G (p.Asp2435Gly)
c.569A>G (p.Asp190Gly)
n.825A>G
c.7484A>G (p.Asp2495Gly)
c.7418A>G (p.Asp2473Gly)
c.7481A>G (p.Asp2494Gly)
c.7478A>G (p.Asp2493Gly)
c.7424A>G (p.Asp2475Gly)
c.7394A>G (p.Asp2465Gly)
c.7349A>G (p.Asp2450Gly)
c.6944A>G (p.Asp2315Gly)
c.6302A>G (p.Asp2101Gly)
c.3812A>G (p.Asp1271Gly)
10g.71799556A>TCA377159376CDH23c.7289A>T (p.Asp2430Val)
c.1222A>T (n.1222A>T)
c.886A>T (n.886A>T)
c.7304A>T (p.Asp2435Val)
c.569A>T (p.Asp190Val)
n.825A>T
c.7484A>T (p.Asp2495Val)
c.7418A>T (p.Asp2473Val)
c.7481A>T (p.Asp2494Val)
c.7478A>T (p.Asp2493Val)
c.7424A>T (p.Asp2475Val)
c.7394A>T (p.Asp2465Val)
c.7349A>T (p.Asp2450Val)
c.6944A>T (p.Asp2315Val)
c.6302A>T (p.Asp2101Val)
c.3812A>T (p.Asp1271Val)
10g.71799557C>ACA377159377CDH23c.7290C>A (p.Asp2430Glu)
c.1223C>A (n.1223C>A)
c.887C>A (n.887C>A)
c.7305C>A (p.Asp2435Glu)
c.570C>A (p.Asp190Glu)
n.826C>A
c.7485C>A (p.Asp2495Glu)
c.7419C>A (p.Asp2473Glu)
c.7482C>A (p.Asp2494Glu)
c.7479C>A (p.Asp2493Glu)
c.7425C>A (p.Asp2475Glu)
c.7395C>A (p.Asp2465Glu)
c.7350C>A (p.Asp2450Glu)
c.6945C>A (p.Asp2315Glu)
c.6303C>A (p.Asp2101Glu)
c.3813C>A (p.Asp1271Glu)
10g.71799557C>GCA377159378CDH23c.7290C>G (p.Asp2430Glu)
c.1223C>G (n.1223C>G)
c.887C>G (n.887C>G)
c.7305C>G (p.Asp2435Glu)
c.570C>G (p.Asp190Glu)
n.826C>G
c.7485C>G (p.Asp2495Glu)
c.7419C>G (p.Asp2473Glu)
c.7482C>G (p.Asp2494Glu)
c.7479C>G (p.Asp2493Glu)
c.7425C>G (p.Asp2475Glu)
c.7395C>G (p.Asp2465Glu)
c.7350C>G (p.Asp2450Glu)
c.6945C>G (p.Asp2315Glu)
c.6303C>G (p.Asp2101Glu)
c.3813C>G (p.Asp1271Glu)
10g.71799557C>TCA470282107CDH23c.7290C>T (p.Asp2430=)
c.1223C>T (n.1223C>T)
c.887C>T (n.887C>T)
c.7305C>T (p.Asp2435=)
c.570C>T (p.Asp190=)
n.826C>T
c.7485C>T (p.Asp2495=)
c.7419C>T (p.Asp2473=)
c.7482C>T (p.Asp2494=)
c.7479C>T (p.Asp2493=)
c.7425C>T (p.Asp2475=)
c.7395C>T (p.Asp2465=)
c.7350C>T (p.Asp2450=)
c.6945C>T (p.Asp2315=)
c.6303C>T (p.Asp2101=)
c.3813C>T (p.Asp1271=)
10g.71799558T>ACA377159387CDH23c.7291T>A (p.Ser2431Thr)
c.1224T>A (n.1224T>A)
c.888T>A (n.888T>A)
c.7306T>A (p.Ser2436Thr)
c.571T>A (p.Ser191Thr)
n.827T>A
c.7486T>A (p.Ser2496Thr)
c.7420T>A (p.Ser2474Thr)
c.7483T>A (p.Ser2495Thr)
c.7480T>A (p.Ser2494Thr)
c.7426T>A (p.Ser2476Thr)
c.7396T>A (p.Ser2466Thr)
c.7351T>A (p.Ser2451Thr)
c.6946T>A (p.Ser2316Thr)
c.6304T>A (p.Ser2102Thr)
c.3814T>A (p.Ser1272Thr)
10g.71799558T>CCA377159388CDH23c.7291T>C (p.Ser2431Pro)
c.1224T>C (n.1224T>C)
c.888T>C (n.888T>C)
c.7306T>C (p.Ser2436Pro)
c.571T>C (p.Ser191Pro)
n.827T>C
c.7486T>C (p.Ser2496Pro)
c.7420T>C (p.Ser2474Pro)
c.7483T>C (p.Ser2495Pro)
c.7480T>C (p.Ser2494Pro)
c.7426T>C (p.Ser2476Pro)
c.7396T>C (p.Ser2466Pro)
c.7351T>C (p.Ser2451Pro)
c.6946T>C (p.Ser2316Pro)
c.6304T>C (p.Ser2102Pro)
c.3814T>C (p.Ser1272Pro)
10g.71799558T>GCA377159381CDH23c.7291T>G (p.Ser2431Ala)
c.1224T>G (n.1224T>G)
c.888T>G (n.888T>G)
c.7306T>G (p.Ser2436Ala)
c.571T>G (p.Ser191Ala)
n.827T>G
c.7486T>G (p.Ser2496Ala)
c.7420T>G (p.Ser2474Ala)
c.7483T>G (p.Ser2495Ala)
c.7480T>G (p.Ser2494Ala)
c.7426T>G (p.Ser2476Ala)
c.7396T>G (p.Ser2466Ala)
c.7351T>G (p.Ser2451Ala)
c.6946T>G (p.Ser2316Ala)
c.6304T>G (p.Ser2102Ala)
c.3814T>G (p.Ser1272Ala)
 gnomAD v4
10g.71799559delCA2609589903CDH23c.7292del (p.Ser2431Ter)
c.1225del (n.1225del)
c.889del (n.889del)
c.7307del (p.Ser2436Ter)
c.572del (p.Ser191Ter)
n.828del
c.7487del (p.Ser2496Ter)
c.7421del (p.Ser2474Ter)
c.7484del (p.Ser2495Ter)
c.7481del (p.Ser2494Ter)
c.7427del (p.Ser2476Ter)
c.7397del (p.Ser2466Ter)
c.7352del (p.Ser2451Ter)
c.6947del (p.Ser2316Ter)
c.6305del (p.Ser2102Ter)
c.3815del (p.Ser1272Ter)
 gnomAD v4
10g.71799559C>ACA377159391CDH23c.7292C>A (p.Ser2431Ter)
c.1225C>A (n.1225C>A)
c.889C>A (n.889C>A)
c.7307C>A (p.Ser2436Ter)
c.572C>A (p.Ser191Ter)
n.828C>A
c.7487C>A (p.Ser2496Ter)
c.7421C>A (p.Ser2474Ter)
c.7484C>A (p.Ser2495Ter)
c.7481C>A (p.Ser2494Ter)
c.7427C>A (p.Ser2476Ter)
c.7397C>A (p.Ser2466Ter)
c.7352C>A (p.Ser2451Ter)
c.6947C>A (p.Ser2316Ter)
c.6305C>A (p.Ser2102Ter)
c.3815C>A (p.Ser1272Ter)
10g.71799559C>GCA377159390CDH23c.7292C>G (p.Ser2431Ter)
c.1225C>G (n.1225C>G)
c.889C>G (n.889C>G)
c.7307C>G (p.Ser2436Ter)
c.572C>G (p.Ser191Ter)
n.828C>G
c.7487C>G (p.Ser2496Ter)
c.7421C>G (p.Ser2474Ter)
c.7484C>G (p.Ser2495Ter)
c.7481C>G (p.Ser2494Ter)
c.7427C>G (p.Ser2476Ter)
c.7397C>G (p.Ser2466Ter)
c.7352C>G (p.Ser2451Ter)
c.6947C>G (p.Ser2316Ter)
c.6305C>G (p.Ser2102Ter)
c.3815C>G (p.Ser1272Ter)
10g.71799559C>TCA377159392CDH23c.7292C>T (p.Ser2431Leu)
c.1225C>T (n.1225C>T)
c.889C>T (n.889C>T)
c.7307C>T (p.Ser2436Leu)
c.572C>T (p.Ser191Leu)
n.828C>T
c.7487C>T (p.Ser2496Leu)
c.7421C>T (p.Ser2474Leu)
c.7484C>T (p.Ser2495Leu)
c.7481C>T (p.Ser2494Leu)
c.7427C>T (p.Ser2476Leu)
c.7397C>T (p.Ser2466Leu)
c.7352C>T (p.Ser2451Leu)
c.6947C>T (p.Ser2316Leu)
c.6305C>T (p.Ser2102Leu)
c.3815C>T (p.Ser1272Leu)
10g.71799560A=CA1918878927CDH23c.7293A= (p.Ser2431=)
c.1226A= (n.1226A=)
c.890A= (n.890A=)
c.7308A= (p.Ser2436=)
c.573A= (p.Ser191=)
n.829A=
c.7488A= (p.Ser2496=)
c.7422A= (p.Ser2474=)
c.7485A= (p.Ser2495=)
c.7482A= (p.Ser2494=)
c.7428A= (p.Ser2476=)
c.7398A= (p.Ser2466=)
c.7353A= (p.Ser2451=)
c.6948A= (p.Ser2316=)
c.6306A= (p.Ser2102=)
c.3816A= (p.Ser1272=)
10g.71799560A>CCA470282110CDH23c.7293A>C (p.Ser2431=)
c.1226A>C (n.1226A>C)
c.890A>C (n.890A>C)
c.7308A>C (p.Ser2436=)
c.573A>C (p.Ser191=)
n.829A>C
c.7488A>C (p.Ser2496=)
c.7422A>C (p.Ser2474=)
c.7485A>C (p.Ser2495=)
c.7482A>C (p.Ser2494=)
c.7428A>C (p.Ser2476=)
c.7398A>C (p.Ser2466=)
c.7353A>C (p.Ser2451=)
c.6948A>C (p.Ser2316=)
c.6306A>C (p.Ser2102=)
c.3816A>C (p.Ser1272=)
 ClinVar dbSNP
10g.71799560A>GCA5546301CDH23c.7293A>G (p.Ser2431=)
c.1226A>G (n.1226A>G)
c.890A>G (n.890A>G)
c.7308A>G (p.Ser2436=)
c.573A>G (p.Ser191=)
n.829A>G
c.7488A>G (p.Ser2496=)
c.7422A>G (p.Ser2474=)
c.7485A>G (p.Ser2495=)
c.7482A>G (p.Ser2494=)
c.7428A>G (p.Ser2476=)
c.7398A>G (p.Ser2466=)
c.7353A>G (p.Ser2451=)
c.6948A>G (p.Ser2316=)
c.6306A>G (p.Ser2102=)
c.3816A>G (p.Ser1272=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71799560A>TCA470282109CDH23c.7293A>T (p.Ser2431=)
c.1226A>T (n.1226A>T)
c.890A>T (n.890A>T)
c.7308A>T (p.Ser2436=)
c.573A>T (p.Ser191=)
n.829A>T
c.7488A>T (p.Ser2496=)
c.7422A>T (p.Ser2474=)
c.7485A>T (p.Ser2495=)
c.7482A>T (p.Ser2494=)
c.7428A>T (p.Ser2476=)
c.7398A>T (p.Ser2466=)
c.7353A>T (p.Ser2451=)
c.6948A>T (p.Ser2316=)
c.6306A>T (p.Ser2102=)
c.3816A>T (p.Ser1272=)
 ClinVar dbSNP gnomAD v4
10g.71799561G>ACA377159401CDH23c.7294G>A (p.Gly2432Ser)
c.1227G>A (n.1227G>A)
c.891G>A (n.891G>A)
c.7309G>A (p.Gly2437Ser)
c.574G>A (p.Gly192Ser)
n.830G>A
c.7489G>A (p.Gly2497Ser)
c.7423G>A (p.Gly2475Ser)
c.7486G>A (p.Gly2496Ser)
c.7483G>A (p.Gly2495Ser)
c.7429G>A (p.Gly2477Ser)
c.7399G>A (p.Gly2467Ser)
c.7354G>A (p.Gly2452Ser)
c.6949G>A (p.Gly2317Ser)
c.6307G>A (p.Gly2103Ser)
c.3817G>A (p.Gly1273Ser)
10g.71799561G>CCA377159395CDH23c.7294G>C (p.Gly2432Arg)
c.1227G>C (n.1227G>C)
c.891G>C (n.891G>C)
c.7309G>C (p.Gly2437Arg)
c.574G>C (p.Gly192Arg)
n.830G>C
c.7489G>C (p.Gly2497Arg)
c.7423G>C (p.Gly2475Arg)
c.7486G>C (p.Gly2496Arg)
c.7483G>C (p.Gly2495Arg)
c.7429G>C (p.Gly2477Arg)
c.7399G>C (p.Gly2467Arg)
c.7354G>C (p.Gly2452Arg)
c.6949G>C (p.Gly2317Arg)
c.6307G>C (p.Gly2103Arg)
c.3817G>C (p.Gly1273Arg)
 dbSNP gnomAD v3 gnomAD v4
10g.71799561G=CA1918878928CDH23c.7294G= (p.Gly2432=)
c.1227G= (n.1227G=)
c.891G= (n.891G=)
c.7309G= (p.Gly2437=)
c.574G= (p.Gly192=)
n.830G=
c.7489G= (p.Gly2497=)
c.7423G= (p.Gly2475=)
c.7486G= (p.Gly2496=)
c.7483G= (p.Gly2495=)
c.7429G= (p.Gly2477=)
c.7399G= (p.Gly2467=)
c.7354G= (p.Gly2452=)
c.6949G= (p.Gly2317=)
c.6307G= (p.Gly2103=)
c.3817G= (p.Gly1273=)
10g.71799561G>TCA377159400CDH23c.7294G>T (p.Gly2432Cys)
c.1227G>T (n.1227G>T)
c.891G>T (n.891G>T)
c.7309G>T (p.Gly2437Cys)
c.574G>T (p.Gly192Cys)
n.830G>T
c.7489G>T (p.Gly2497Cys)
c.7423G>T (p.Gly2475Cys)
c.7486G>T (p.Gly2496Cys)
c.7483G>T (p.Gly2495Cys)
c.7429G>T (p.Gly2477Cys)
c.7399G>T (p.Gly2467Cys)
c.7354G>T (p.Gly2452Cys)
c.6949G>T (p.Gly2317Cys)
c.6307G>T (p.Gly2103Cys)
c.3817G>T (p.Gly1273Cys)
10g.71799562G>ACA5546302CDH23c.7295G>A (p.Gly2432Asp)
c.1228G>A (n.1228G>A)
c.892G>A (n.892G>A)
c.7310G>A (p.Gly2437Asp)
c.575G>A (p.Gly192Asp)
n.831G>A
c.7490G>A (p.Gly2497Asp)
c.7424G>A (p.Gly2475Asp)
c.7487G>A (p.Gly2496Asp)
c.7484G>A (p.Gly2495Asp)
c.7430G>A (p.Gly2477Asp)
c.7400G>A (p.Gly2467Asp)
c.7355G>A (p.Gly2452Asp)
c.6950G>A (p.Gly2317Asp)
c.6308G>A (p.Gly2103Asp)
c.3818G>A (p.Gly1273Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71799562G>CCA377159402CDH23c.7295G>C (p.Gly2432Ala)
c.1228G>C (n.1228G>C)
c.892G>C (n.892G>C)
c.7310G>C (p.Gly2437Ala)
c.575G>C (p.Gly192Ala)
n.831G>C
c.7490G>C (p.Gly2497Ala)
c.7424G>C (p.Gly2475Ala)
c.7487G>C (p.Gly2496Ala)
c.7484G>C (p.Gly2495Ala)
c.7430G>C (p.Gly2477Ala)
c.7400G>C (p.Gly2467Ala)
c.7355G>C (p.Gly2452Ala)
c.6950G>C (p.Gly2317Ala)
c.6308G>C (p.Gly2103Ala)
c.3818G>C (p.Gly1273Ala)
10g.71799562G=CA1918878929CDH23c.7295G= (p.Gly2432=)
c.1228G= (n.1228G=)
c.892G= (n.892G=)
c.7310G= (p.Gly2437=)
c.575G= (p.Gly192=)
n.831G=
c.7490G= (p.Gly2497=)
c.7424G= (p.Gly2475=)
c.7487G= (p.Gly2496=)
c.7484G= (p.Gly2495=)
c.7430G= (p.Gly2477=)
c.7400G= (p.Gly2467=)
c.7355G= (p.Gly2452=)
c.6950G= (p.Gly2317=)
c.6308G= (p.Gly2103=)
c.3818G= (p.Gly1273=)
10g.71799562G>TCA377159403CDH23c.7295G>T (p.Gly2432Val)
c.1228G>T (n.1228G>T)
c.892G>T (n.892G>T)
c.7310G>T (p.Gly2437Val)
c.575G>T (p.Gly192Val)
n.831G>T
c.7490G>T (p.Gly2497Val)
c.7424G>T (p.Gly2475Val)
c.7487G>T (p.Gly2496Val)
c.7484G>T (p.Gly2495Val)
c.7430G>T (p.Gly2477Val)
c.7400G>T (p.Gly2467Val)
c.7355G>T (p.Gly2452Val)
c.6950G>T (p.Gly2317Val)
c.6308G>T (p.Gly2103Val)
c.3818G>T (p.Gly1273Val)
10g.71799563C>ACA470282114CDH23c.7296C>A (p.Gly2432=)
c.1229C>A (n.1229C>A)
c.893C>A (n.893C>A)
c.7311C>A (p.Gly2437=)
c.576C>A (p.Gly192=)
n.832C>A
c.7491C>A (p.Gly2497=)
c.7425C>A (p.Gly2475=)
c.7488C>A (p.Gly2496=)
c.7485C>A (p.Gly2495=)
c.7431C>A (p.Gly2477=)
c.7401C>A (p.Gly2467=)
c.7356C>A (p.Gly2452=)
c.6951C>A (p.Gly2317=)
c.6309C>A (p.Gly2103=)
c.3819C>A (p.Gly1273=)
10g.71799563C>GCA470282112CDH23c.7296C>G (p.Gly2432=)
c.1229C>G (n.1229C>G)
c.893C>G (n.893C>G)
c.7311C>G (p.Gly2437=)
c.576C>G (p.Gly192=)
n.832C>G
c.7491C>G (p.Gly2497=)
c.7425C>G (p.Gly2475=)
c.7488C>G (p.Gly2496=)
c.7485C>G (p.Gly2495=)
c.7431C>G (p.Gly2477=)
c.7401C>G (p.Gly2467=)
c.7356C>G (p.Gly2452=)
c.6951C>G (p.Gly2317=)
c.6309C>G (p.Gly2103=)
c.3819C>G (p.Gly1273=)
10g.71799563C>TCA470282113CDH23c.7296C>T (p.Gly2432=)
c.1229C>T (n.1229C>T)
c.893C>T (n.893C>T)
c.7311C>T (p.Gly2437=)
c.576C>T (p.Gly192=)
n.832C>T
c.7491C>T (p.Gly2497=)
c.7425C>T (p.Gly2475=)
c.7488C>T (p.Gly2496=)
c.7485C>T (p.Gly2495=)
c.7431C>T (p.Gly2477=)
c.7401C>T (p.Gly2467=)
c.7356C>T (p.Gly2452=)
c.6951C>T (p.Gly2317=)
c.6309C>T (p.Gly2103=)
c.3819C>T (p.Gly1273=)
10g.71799564A>CCA377159406CDH23c.7297A>C (p.Asn2433His)
c.1230A>C (n.1230A>C)
c.894A>C (n.894A>C)
c.7312A>C (p.Asn2438His)
c.577A>C (p.Asn193His)
n.833A>C
c.7492A>C (p.Asn2498His)
c.7426A>C (p.Asn2476His)
c.7489A>C (p.Asn2497His)
c.7486A>C (p.Asn2496His)
c.7432A>C (p.Asn2478His)
c.7402A>C (p.Asn2468His)
c.7357A>C (p.Asn2453His)
c.6952A>C (p.Asn2318His)
c.6310A>C (p.Asn2104His)
c.3820A>C (p.Asn1274His)
10g.71799564A>GCA377159407CDH23c.7297A>G (p.Asn2433Asp)
c.1230A>G (n.1230A>G)
c.894A>G (n.894A>G)
c.7312A>G (p.Asn2438Asp)
c.577A>G (p.Asn193Asp)
n.833A>G
c.7492A>G (p.Asn2498Asp)
c.7426A>G (p.Asn2476Asp)
c.7489A>G (p.Asn2497Asp)
c.7486A>G (p.Asn2496Asp)
c.7432A>G (p.Asn2478Asp)
c.7402A>G (p.Asn2468Asp)
c.7357A>G (p.Asn2453Asp)
c.6952A>G (p.Asn2318Asp)
c.6310A>G (p.Asn2104Asp)
c.3820A>G (p.Asn1274Asp)
10g.71799564A>TCA377159408CDH23c.7297A>T (p.Asn2433Tyr)
c.1230A>T (n.1230A>T)
c.894A>T (n.894A>T)
c.7312A>T (p.Asn2438Tyr)
c.577A>T (p.Asn193Tyr)
n.833A>T
c.7492A>T (p.Asn2498Tyr)
c.7426A>T (p.Asn2476Tyr)
c.7489A>T (p.Asn2497Tyr)
c.7486A>T (p.Asn2496Tyr)
c.7432A>T (p.Asn2478Tyr)
c.7402A>T (p.Asn2468Tyr)
c.7357A>T (p.Asn2453Tyr)
c.6952A>T (p.Asn2318Tyr)
c.6310A>T (p.Asn2104Tyr)
c.3820A>T (p.Asn1274Tyr)
10g.71799565A>CCA377159409CDH23c.7298A>C (p.Asn2433Thr)
c.1231A>C (n.1231A>C)
c.895A>C (n.895A>C)
c.7313A>C (p.Asn2438Thr)
c.578A>C (p.Asn193Thr)
n.834A>C
c.7493A>C (p.Asn2498Thr)
c.7427A>C (p.Asn2476Thr)
c.7490A>C (p.Asn2497Thr)
c.7487A>C (p.Asn2496Thr)
c.7433A>C (p.Asn2478Thr)
c.7403A>C (p.Asn2468Thr)
c.7358A>C (p.Asn2453Thr)
c.6953A>C (p.Asn2318Thr)
c.6311A>C (p.Asn2104Thr)
c.3821A>C (p.Asn1274Thr)
10g.71799565A>GCA377159414CDH23c.7298A>G (p.Asn2433Ser)
c.1231A>G (n.1231A>G)
c.895A>G (n.895A>G)
c.7313A>G (p.Asn2438Ser)
c.578A>G (p.Asn193Ser)
n.834A>G
c.7493A>G (p.Asn2498Ser)
c.7427A>G (p.Asn2476Ser)
c.7490A>G (p.Asn2497Ser)
c.7487A>G (p.Asn2496Ser)
c.7433A>G (p.Asn2478Ser)
c.7403A>G (p.Asn2468Ser)
c.7358A>G (p.Asn2453Ser)
c.6953A>G (p.Asn2318Ser)
c.6311A>G (p.Asn2104Ser)
c.3821A>G (p.Asn1274Ser)
10g.71799565A>TCA377159416CDH23c.7298A>T (p.Asn2433Ile)
c.1231A>T (n.1231A>T)
c.895A>T (n.895A>T)
c.7313A>T (p.Asn2438Ile)
c.578A>T (p.Asn193Ile)
n.834A>T
c.7493A>T (p.Asn2498Ile)
c.7427A>T (p.Asn2476Ile)
c.7490A>T (p.Asn2497Ile)
c.7487A>T (p.Asn2496Ile)
c.7433A>T (p.Asn2478Ile)
c.7403A>T (p.Asn2468Ile)
c.7358A>T (p.Asn2453Ile)
c.6953A>T (p.Asn2318Ile)
c.6311A>T (p.Asn2104Ile)
c.3821A>T (p.Asn1274Ile)
10g.71799566C>ACA377159418CDH23c.7299C>A (p.Asn2433Lys)
c.1232C>A (n.1232C>A)
c.896C>A (n.896C>A)
c.7314C>A (p.Asn2438Lys)
c.579C>A (p.Asn193Lys)
n.835C>A
c.7494C>A (p.Asn2498Lys)
c.7428C>A (p.Asn2476Lys)
c.7491C>A (p.Asn2497Lys)
c.7488C>A (p.Asn2496Lys)
c.7434C>A (p.Asn2478Lys)
c.7404C>A (p.Asn2468Lys)
c.7359C>A (p.Asn2453Lys)
c.6954C>A (p.Asn2318Lys)
c.6312C>A (p.Asn2104Lys)
c.3822C>A (p.Asn1274Lys)
 COSMIC
10g.71799566C>GCA377159420CDH23c.7299C>G (p.Asn2433Lys)
c.1232C>G (n.1232C>G)
c.896C>G (n.896C>G)
c.7314C>G (p.Asn2438Lys)
c.579C>G (p.Asn193Lys)
n.835C>G
c.7494C>G (p.Asn2498Lys)
c.7428C>G (p.Asn2476Lys)
c.7491C>G (p.Asn2497Lys)
c.7488C>G (p.Asn2496Lys)
c.7434C>G (p.Asn2478Lys)
c.7404C>G (p.Asn2468Lys)
c.7359C>G (p.Asn2453Lys)
c.6954C>G (p.Asn2318Lys)
c.6312C>G (p.Asn2104Lys)
c.3822C>G (p.Asn1274Lys)
10g.71799566C>TCA470282116CDH23c.7299C>T (p.Asn2433=)
c.1232C>T (n.1232C>T)
c.896C>T (n.896C>T)
c.7314C>T (p.Asn2438=)
c.579C>T (p.Asn193=)
n.835C>T
c.7494C>T (p.Asn2498=)
c.7428C>T (p.Asn2476=)
c.7491C>T (p.Asn2497=)
c.7488C>T (p.Asn2496=)
c.7434C>T (p.Asn2478=)
c.7404C>T (p.Asn2468=)
c.7359C>T (p.Asn2453=)
c.6954C>T (p.Asn2318=)
c.6312C>T (p.Asn2104=)
c.3822C>T (p.Asn1274=)
 gnomAD v4
10g.71799567T>ACA377159426CDH23c.7300T>A (p.Phe2434Ile)
c.1233T>A (n.1233T>A)
c.897T>A (n.897T>A)
c.7315T>A (p.Phe2439Ile)
c.580T>A (p.Phe194Ile)
n.836T>A
c.7495T>A (p.Phe2499Ile)
c.7429T>A (p.Phe2477Ile)
c.7492T>A (p.Phe2498Ile)
c.7489T>A (p.Phe2497Ile)
c.7435T>A (p.Phe2479Ile)
c.7405T>A (p.Phe2469Ile)
c.7360T>A (p.Phe2454Ile)
c.6955T>A (p.Phe2319Ile)
c.6313T>A (p.Phe2105Ile)
c.3823T>A (p.Phe1275Ile)
10g.71799567T>CCA377159423CDH23c.7300T>C (p.Phe2434Leu)
c.1233T>C (n.1233T>C)
c.897T>C (n.897T>C)
c.7315T>C (p.Phe2439Leu)
c.580T>C (p.Phe194Leu)
n.836T>C
c.7495T>C (p.Phe2499Leu)
c.7429T>C (p.Phe2477Leu)
c.7492T>C (p.Phe2498Leu)
c.7489T>C (p.Phe2497Leu)
c.7435T>C (p.Phe2479Leu)
c.7405T>C (p.Phe2469Leu)
c.7360T>C (p.Phe2454Leu)
c.6955T>C (p.Phe2319Leu)
c.6313T>C (p.Phe2105Leu)
c.3823T>C (p.Phe1275Leu)
 gnomAD v4
10g.71799567T>GCA377159422CDH23c.7300T>G (p.Phe2434Val)
c.1233T>G (n.1233T>G)
c.897T>G (n.897T>G)
c.7315T>G (p.Phe2439Val)
c.580T>G (p.Phe194Val)
n.836T>G
c.7495T>G (p.Phe2499Val)
c.7429T>G (p.Phe2477Val)
c.7492T>G (p.Phe2498Val)
c.7489T>G (p.Phe2497Val)
c.7435T>G (p.Phe2479Val)
c.7405T>G (p.Phe2469Val)
c.7360T>G (p.Phe2454Val)
c.6955T>G (p.Phe2319Val)
c.6313T>G (p.Phe2105Val)
c.3823T>G (p.Phe1275Val)
10g.71799568T>ACA377159428CDH23c.7301T>A (p.Phe2434Tyr)
c.1234T>A (n.1234T>A)
c.898T>A (n.898T>A)
c.7316T>A (p.Phe2439Tyr)
c.581T>A (p.Phe194Tyr)
n.837T>A
c.7496T>A (p.Phe2499Tyr)
c.7430T>A (p.Phe2477Tyr)
c.7493T>A (p.Phe2498Tyr)
c.7490T>A (p.Phe2497Tyr)
c.7436T>A (p.Phe2479Tyr)
c.7406T>A (p.Phe2469Tyr)
c.7361T>A (p.Phe2454Tyr)
c.6956T>A (p.Phe2319Tyr)
c.6314T>A (p.Phe2105Tyr)
c.3824T>A (p.Phe1275Tyr)
10g.71799568T>CCA377159431CDH23c.7301T>C (p.Phe2434Ser)
c.1234T>C (n.1234T>C)
c.898T>C (n.898T>C)
c.7316T>C (p.Phe2439Ser)
c.581T>C (p.Phe194Ser)
n.837T>C
c.7496T>C (p.Phe2499Ser)
c.7430T>C (p.Phe2477Ser)
c.7493T>C (p.Phe2498Ser)
c.7490T>C (p.Phe2497Ser)
c.7436T>C (p.Phe2479Ser)
c.7406T>C (p.Phe2469Ser)
c.7361T>C (p.Phe2454Ser)
c.6956T>C (p.Phe2319Ser)
c.6314T>C (p.Phe2105Ser)
c.3824T>C (p.Phe1275Ser)
10g.71799568T>GCA377159432CDH23c.7301T>G (p.Phe2434Cys)
c.1234T>G (n.1234T>G)
c.898T>G (n.898T>G)
c.7316T>G (p.Phe2439Cys)
c.581T>G (p.Phe194Cys)
n.837T>G
c.7496T>G (p.Phe2499Cys)
c.7430T>G (p.Phe2477Cys)
c.7493T>G (p.Phe2498Cys)
c.7490T>G (p.Phe2497Cys)
c.7436T>G (p.Phe2479Cys)
c.7406T>G (p.Phe2469Cys)
c.7361T>G (p.Phe2454Cys)
c.6956T>G (p.Phe2319Cys)
c.6314T>G (p.Phe2105Cys)
c.3824T>G (p.Phe1275Cys)
10g.71799569T>ACA377159434CDH23c.7302T>A (p.Phe2434Leu)
c.1235T>A (n.1235T>A)
c.899T>A (n.899T>A)
c.7317T>A (p.Phe2439Leu)
c.582T>A (p.Phe194Leu)
n.838T>A
c.7497T>A (p.Phe2499Leu)
c.7431T>A (p.Phe2477Leu)
c.7494T>A (p.Phe2498Leu)
c.7491T>A (p.Phe2497Leu)
c.7437T>A (p.Phe2479Leu)
c.7407T>A (p.Phe2469Leu)
c.7362T>A (p.Phe2454Leu)
c.6957T>A (p.Phe2319Leu)
c.6315T>A (p.Phe2105Leu)
c.3825T>A (p.Phe1275Leu)
 COSMIC
10g.71799569T>CCA470282120CDH23c.7302T>C (p.Phe2434=)
c.1235T>C (n.1235T>C)
c.899T>C (n.899T>C)
c.7317T>C (p.Phe2439=)
c.582T>C (p.Phe194=)
n.838T>C
c.7497T>C (p.Phe2499=)
c.7431T>C (p.Phe2477=)
c.7494T>C (p.Phe2498=)
c.7491T>C (p.Phe2497=)
c.7437T>C (p.Phe2479=)
c.7407T>C (p.Phe2469=)
c.7362T>C (p.Phe2454=)
c.6957T>C (p.Phe2319=)
c.6315T>C (p.Phe2105=)
c.3825T>C (p.Phe1275=)
10g.71799569T>GCA377159438CDH23c.7302T>G (p.Phe2434Leu)
c.1235T>G (n.1235T>G)
c.899T>G (n.899T>G)
c.7317T>G (p.Phe2439Leu)
c.582T>G (p.Phe194Leu)
n.838T>G
c.7497T>G (p.Phe2499Leu)
c.7431T>G (p.Phe2477Leu)
c.7494T>G (p.Phe2498Leu)
c.7491T>G (p.Phe2497Leu)
c.7437T>G (p.Phe2479Leu)
c.7407T>G (p.Phe2469Leu)
c.7362T>G (p.Phe2454Leu)
c.6957T>G (p.Phe2319Leu)
c.6315T>G (p.Phe2105Leu)
c.3825T>G (p.Phe1275Leu)
10g.71799570G>ACA377159441CDH23c.7303G>A (p.Ala2435Thr)
c.1236G>A (n.1236G>A)
c.900G>A (n.900G>A)
c.7318G>A (p.Ala2440Thr)
c.583G>A (p.Ala195Thr)
n.839G>A
c.7498G>A (p.Ala2500Thr)
c.7432G>A (p.Ala2478Thr)
c.7495G>A (p.Ala2499Thr)
c.7492G>A (p.Ala2498Thr)
c.7438G>A (p.Ala2480Thr)
c.7408G>A (p.Ala2470Thr)
c.7363G>A (p.Ala2455Thr)
c.6958G>A (p.Ala2320Thr)
c.6316G>A (p.Ala2106Thr)
c.3826G>A (p.Ala1276Thr)
 COSMIC
10g.71799570G>CCA377159447CDH23c.7303G>C (p.Ala2435Pro)
c.1236G>C (n.1236G>C)
c.900G>C (n.900G>C)
c.7318G>C (p.Ala2440Pro)
c.583G>C (p.Ala195Pro)
n.839G>C
c.7498G>C (p.Ala2500Pro)
c.7432G>C (p.Ala2478Pro)
c.7495G>C (p.Ala2499Pro)
c.7492G>C (p.Ala2498Pro)
c.7438G>C (p.Ala2480Pro)
c.7408G>C (p.Ala2470Pro)
c.7363G>C (p.Ala2455Pro)
c.6958G>C (p.Ala2320Pro)
c.6316G>C (p.Ala2106Pro)
c.3826G>C (p.Ala1276Pro)
10g.71799570G>TCA377159449CDH23c.7303G>T (p.Ala2435Ser)
c.1236G>T (n.1236G>T)
c.900G>T (n.900G>T)
c.7318G>T (p.Ala2440Ser)
c.583G>T (p.Ala195Ser)
n.839G>T
c.7498G>T (p.Ala2500Ser)
c.7432G>T (p.Ala2478Ser)
c.7495G>T (p.Ala2499Ser)
c.7492G>T (p.Ala2498Ser)
c.7438G>T (p.Ala2480Ser)
c.7408G>T (p.Ala2470Ser)
c.7363G>T (p.Ala2455Ser)
c.6958G>T (p.Ala2320Ser)
c.6316G>T (p.Ala2106Ser)
c.3826G>T (p.Ala1276Ser)
 ClinVar gnomAD v4
10g.71799571C>ACA377159451CDH23c.7304C>A (p.Ala2435Glu)
c.1237C>A (n.1237C>A)
c.901C>A (n.901C>A)
c.7319C>A (p.Ala2440Glu)
c.584C>A (p.Ala195Glu)
n.840C>A
c.7499C>A (p.Ala2500Glu)
c.7433C>A (p.Ala2478Glu)
c.7496C>A (p.Ala2499Glu)
c.7493C>A (p.Ala2498Glu)
c.7439C>A (p.Ala2480Glu)
c.7409C>A (p.Ala2470Glu)
c.7364C>A (p.Ala2455Glu)
c.6959C>A (p.Ala2320Glu)
c.6317C>A (p.Ala2106Glu)
c.3827C>A (p.Ala1276Glu)
10g.71799571C>GCA377159467CDH23c.7304C>G (p.Ala2435Gly)
c.1237C>G (n.1237C>G)
c.901C>G (n.901C>G)
c.7319C>G (p.Ala2440Gly)
c.584C>G (p.Ala195Gly)
n.840C>G
c.7499C>G (p.Ala2500Gly)
c.7433C>G (p.Ala2478Gly)
c.7496C>G (p.Ala2499Gly)
c.7493C>G (p.Ala2498Gly)
c.7439C>G (p.Ala2480Gly)
c.7409C>G (p.Ala2470Gly)
c.7364C>G (p.Ala2455Gly)
c.6959C>G (p.Ala2320Gly)
c.6317C>G (p.Ala2106Gly)
c.3827C>G (p.Ala1276Gly)
10g.71799571C>TCA377159471CDH23c.7304C>T (p.Ala2435Val)
c.1237C>T (n.1237C>T)
c.901C>T (n.901C>T)
c.7319C>T (p.Ala2440Val)
c.584C>T (p.Ala195Val)
n.840C>T
c.7499C>T (p.Ala2500Val)
c.7433C>T (p.Ala2478Val)
c.7496C>T (p.Ala2499Val)
c.7493C>T (p.Ala2498Val)
c.7439C>T (p.Ala2480Val)
c.7409C>T (p.Ala2470Val)
c.7364C>T (p.Ala2455Val)
c.6959C>T (p.Ala2320Val)
c.6317C>T (p.Ala2106Val)
c.3827C>T (p.Ala1276Val)
 ClinVar dbSNP gnomAD v4
10g.71799572A>CCA470282122CDH23c.7305A>C (p.Ala2435=)
c.1238A>C (n.1238A>C)
c.902A>C (n.902A>C)
c.7320A>C (p.Ala2440=)
c.585A>C (p.Ala195=)
n.841A>C
c.7500A>C (p.Ala2500=)
c.7434A>C (p.Ala2478=)
c.7497A>C (p.Ala2499=)
c.7494A>C (p.Ala2498=)
c.7440A>C (p.Ala2480=)
c.7410A>C (p.Ala2470=)
c.7365A>C (p.Ala2455=)
c.6960A>C (p.Ala2320=)
c.6318A>C (p.Ala2106=)
c.3828A>C (p.Ala1276=)
 gnomAD v4
10g.71799572A>GCA470282123CDH23c.7305A>G (p.Ala2435=)
c.1238A>G (n.1238A>G)
c.902A>G (n.902A>G)
c.7320A>G (p.Ala2440=)
c.585A>G (p.Ala195=)
n.841A>G
c.7500A>G (p.Ala2500=)
c.7434A>G (p.Ala2478=)
c.7497A>G (p.Ala2499=)
c.7494A>G (p.Ala2498=)
c.7440A>G (p.Ala2480=)
c.7410A>G (p.Ala2470=)
c.7365A>G (p.Ala2455=)
c.6960A>G (p.Ala2320=)
c.6318A>G (p.Ala2106=)
c.3828A>G (p.Ala1276=)
 ClinVar dbSNP gnomAD v4
10g.71799572A>TCA470282124CDH23c.7305A>T (p.Ala2435=)
c.1238A>T (n.1238A>T)
c.902A>T (n.902A>T)
c.7320A>T (p.Ala2440=)
c.585A>T (p.Ala195=)
n.841A>T
c.7500A>T (p.Ala2500=)
c.7434A>T (p.Ala2478=)
c.7497A>T (p.Ala2499=)
c.7494A>T (p.Ala2498=)
c.7440A>T (p.Ala2480=)
c.7410A>T (p.Ala2470=)
c.7365A>T (p.Ala2455=)
c.6960A>T (p.Ala2320=)
c.6318A>T (p.Ala2106=)
c.3828A>T (p.Ala1276=)
10g.71799572dupCA2695212114CDH23c.7305dup (p.Leu2436ThrfsTer3)
c.1238dup (n.1238dup)
c.902dup (n.902dup)
c.7320dup (p.Leu2441ThrfsTer3)
c.585dup (p.Leu196ThrfsTer3)
n.841dup
c.7500dup (p.Leu2501ThrfsTer3)
c.7434dup (p.Leu2479ThrfsTer3)
c.7497dup (p.Leu2500ThrfsTer3)
c.7494dup (p.Leu2499ThrfsTer3)
c.7440dup (p.Leu2481ThrfsTer3)
c.7410dup (p.Leu2471ThrfsTer3)
c.7365dup (p.Leu2456ThrfsTer3)
c.6960dup (p.Leu2321ThrfsTer3)
c.6318dup (p.Leu2107ThrfsTer3)
c.3828dup (p.Leu1277ThrfsTer3)
10g.71799573C>ACA377159475CDH23c.7306C>A (p.Leu2436Ile)
c.1239C>A (n.1239C>A)
c.903C>A (n.903C>A)
c.7321C>A (p.Leu2441Ile)
c.586C>A (p.Leu196Ile)
n.842C>A
c.7501C>A (p.Leu2501Ile)
c.7435C>A (p.Leu2479Ile)
c.7498C>A (p.Leu2500Ile)
c.7495C>A (p.Leu2499Ile)
c.7441C>A (p.Leu2481Ile)
c.7411C>A (p.Leu2471Ile)
c.7366C>A (p.Leu2456Ile)
c.6961C>A (p.Leu2321Ile)
c.6319C>A (p.Leu2107Ile)
c.3829C>A (p.Leu1277Ile)
 dbSNP
10g.71799573C=CA1918878930CDH23c.7306C= (p.Leu2436=)
c.1239C= (n.1239C=)
c.903C= (n.903C=)
c.7321C= (p.Leu2441=)
c.586C= (p.Leu196=)
n.842C=
c.7501C= (p.Leu2501=)
c.7435C= (p.Leu2479=)
c.7498C= (p.Leu2500=)
c.7495C= (p.Leu2499=)
c.7441C= (p.Leu2481=)
c.7411C= (p.Leu2471=)
c.7366C= (p.Leu2456=)
c.6961C= (p.Leu2321=)
c.6319C= (p.Leu2107=)
c.3829C= (p.Leu1277=)
10g.71799573C>GCA377159476CDH23c.7306C>G (p.Leu2436Val)
c.1239C>G (n.1239C>G)
c.903C>G (n.903C>G)
c.7321C>G (p.Leu2441Val)
c.586C>G (p.Leu196Val)
n.842C>G
c.7501C>G (p.Leu2501Val)
c.7435C>G (p.Leu2479Val)
c.7498C>G (p.Leu2500Val)
c.7495C>G (p.Leu2499Val)
c.7441C>G (p.Leu2481Val)
c.7411C>G (p.Leu2471Val)
c.7366C>G (p.Leu2456Val)
c.6961C>G (p.Leu2321Val)
c.6319C>G (p.Leu2107Val)
c.3829C>G (p.Leu1277Val)
10g.71799573C>TCA5546303CDH23c.7306C>T (p.Leu2436Phe)
c.1239C>T (n.1239C>T)
c.903C>T (n.903C>T)
c.7321C>T (p.Leu2441Phe)
c.586C>T (p.Leu196Phe)
n.842C>T
c.7501C>T (p.Leu2501Phe)
c.7435C>T (p.Leu2479Phe)
c.7498C>T (p.Leu2500Phe)
c.7495C>T (p.Leu2499Phe)
c.7441C>T (p.Leu2481Phe)
c.7411C>T (p.Leu2471Phe)
c.7366C>T (p.Leu2456Phe)
c.6961C>T (p.Leu2321Phe)
c.6319C>T (p.Leu2107Phe)
c.3829C>T (p.Leu1277Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71799574T>ACA377159485CDH23c.7307T>A (p.Leu2436His)
c.1240T>A (n.1240T>A)
c.904T>A (n.904T>A)
c.7322T>A (p.Leu2441His)
c.587T>A (p.Leu196His)
n.843T>A
c.7502T>A (p.Leu2501His)
c.7436T>A (p.Leu2479His)
c.7499T>A (p.Leu2500His)
c.7496T>A (p.Leu2499His)
c.7442T>A (p.Leu2481His)
c.7412T>A (p.Leu2471His)
c.7367T>A (p.Leu2456His)
c.6962T>A (p.Leu2321His)
c.6320T>A (p.Leu2107His)
c.3830T>A (p.Leu1277His)
10g.71799574T>CCA377159482CDH23c.7307T>C (p.Leu2436Pro)
c.1240T>C (n.1240T>C)
c.904T>C (n.904T>C)
c.7322T>C (p.Leu2441Pro)
c.587T>C (p.Leu196Pro)
n.843T>C
c.7502T>C (p.Leu2501Pro)
c.7436T>C (p.Leu2479Pro)
c.7499T>C (p.Leu2500Pro)
c.7496T>C (p.Leu2499Pro)
c.7442T>C (p.Leu2481Pro)
c.7412T>C (p.Leu2471Pro)
c.7367T>C (p.Leu2456Pro)
c.6962T>C (p.Leu2321Pro)
c.6320T>C (p.Leu2107Pro)
c.3830T>C (p.Leu1277Pro)
10g.71799574T>GCA377159479CDH23c.7307T>G (p.Leu2436Arg)
c.1240T>G (n.1240T>G)
c.904T>G (n.904T>G)
c.7322T>G (p.Leu2441Arg)
c.587T>G (p.Leu196Arg)
n.843T>G
c.7502T>G (p.Leu2501Arg)
c.7436T>G (p.Leu2479Arg)
c.7499T>G (p.Leu2500Arg)
c.7496T>G (p.Leu2499Arg)
c.7442T>G (p.Leu2481Arg)
c.7412T>G (p.Leu2471Arg)
c.7367T>G (p.Leu2456Arg)
c.6962T>G (p.Leu2321Arg)
c.6320T>G (p.Leu2107Arg)
c.3830T>G (p.Leu1277Arg)
10g.71799575C>ACA470282126CDH23c.7308C>A (p.Leu2436=)
c.1241C>A (n.1241C>A)
c.905C>A (n.905C>A)
c.7323C>A (p.Leu2441=)
c.588C>A (p.Leu196=)
n.844C>A
c.7503C>A (p.Leu2501=)
c.7437C>A (p.Leu2479=)
c.7500C>A (p.Leu2500=)
c.7497C>A (p.Leu2499=)
c.7443C>A (p.Leu2481=)
c.7413C>A (p.Leu2471=)
c.7368C>A (p.Leu2456=)
c.6963C>A (p.Leu2321=)
c.6321C>A (p.Leu2107=)
c.3831C>A (p.Leu1277=)
10g.71799575C>GCA470282127CDH23c.7308C>G (p.Leu2436=)
c.1241C>G (n.1241C>G)
c.905C>G (n.905C>G)
c.7323C>G (p.Leu2441=)
c.588C>G (p.Leu196=)
n.844C>G
c.7503C>G (p.Leu2501=)
c.7437C>G (p.Leu2479=)
c.7500C>G (p.Leu2500=)
c.7497C>G (p.Leu2499=)
c.7443C>G (p.Leu2481=)
c.7413C>G (p.Leu2471=)
c.7368C>G (p.Leu2456=)
c.6963C>G (p.Leu2321=)
c.6321C>G (p.Leu2107=)
c.3831C>G (p.Leu1277=)
10g.71799575C>TCA470282128CDH23c.7308C>T (p.Leu2436=)
c.1241C>T (n.1241C>T)
c.905C>T (n.905C>T)
c.7323C>T (p.Leu2441=)
c.588C>T (p.Leu196=)
n.844C>T
c.7503C>T (p.Leu2501=)
c.7437C>T (p.Leu2479=)
c.7500C>T (p.Leu2500=)
c.7497C>T (p.Leu2499=)
c.7443C>T (p.Leu2481=)
c.7413C>T (p.Leu2471=)
c.7368C>T (p.Leu2456=)
c.6963C>T (p.Leu2321=)
c.6321C>T (p.Leu2107=)
c.3831C>T (p.Leu1277=)
 gnomAD v4
10g.71799576A=CA1918878931CDH23c.7309A= (p.Ile2437=)
c.1242A= (n.1242A=)
c.906A= (n.906A=)
c.7324A= (p.Ile2442=)
c.589A= (p.Ile197=)
n.845A=
c.7504A= (p.Ile2502=)
c.7438A= (p.Ile2480=)
c.7501A= (p.Ile2501=)
c.7498A= (p.Ile2500=)
c.7444A= (p.Ile2482=)
c.7414A= (p.Ile2472=)
c.7369A= (p.Ile2457=)
c.6964A= (p.Ile2322=)
c.6322A= (p.Ile2108=)
c.3832A= (p.Ile1278=)
10g.71799576A>CCA377159487CDH23c.7309A>C (p.Ile2437Leu)
c.1242A>C (n.1242A>C)
c.906A>C (n.906A>C)
c.7324A>C (p.Ile2442Leu)
c.589A>C (p.Ile197Leu)
n.845A>C
c.7504A>C (p.Ile2502Leu)
c.7438A>C (p.Ile2480Leu)
c.7501A>C (p.Ile2501Leu)
c.7498A>C (p.Ile2500Leu)
c.7444A>C (p.Ile2482Leu)
c.7414A>C (p.Ile2472Leu)
c.7369A>C (p.Ile2457Leu)
c.6964A>C (p.Ile2322Leu)
c.6322A>C (p.Ile2108Leu)
c.3832A>C (p.Ile1278Leu)
10g.71799576A>GCA5546304CDH23c.7309A>G (p.Ile2437Val)
c.1242A>G (n.1242A>G)
c.906A>G (n.906A>G)
c.7324A>G (p.Ile2442Val)
c.589A>G (p.Ile197Val)
n.845A>G
c.7504A>G (p.Ile2502Val)
c.7438A>G (p.Ile2480Val)
c.7501A>G (p.Ile2501Val)
c.7498A>G (p.Ile2500Val)
c.7444A>G (p.Ile2482Val)
c.7414A>G (p.Ile2472Val)
c.7369A>G (p.Ile2457Val)
c.6964A>G (p.Ile2322Val)
c.6322A>G (p.Ile2108Val)
c.3832A>G (p.Ile1278Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71799576A>TCA377159495CDH23c.7309A>T (p.Ile2437Phe)
c.1242A>T (n.1242A>T)
c.906A>T (n.906A>T)
c.7324A>T (p.Ile2442Phe)
c.589A>T (p.Ile197Phe)
n.845A>T
c.7504A>T (p.Ile2502Phe)
c.7438A>T (p.Ile2480Phe)
c.7501A>T (p.Ile2501Phe)
c.7498A>T (p.Ile2500Phe)
c.7444A>T (p.Ile2482Phe)
c.7414A>T (p.Ile2472Phe)
c.7369A>T (p.Ile2457Phe)
c.6964A>T (p.Ile2322Phe)
c.6322A>T (p.Ile2108Phe)
c.3832A>T (p.Ile1278Phe)
10g.71799577T>ACA377159499CDH23c.7310T>A (p.Ile2437Asn)
c.1243T>A (n.1243T>A)
c.907T>A (n.907T>A)
c.7325T>A (p.Ile2442Asn)
c.590T>A (p.Ile197Asn)
n.846T>A
c.7505T>A (p.Ile2502Asn)
c.7439T>A (p.Ile2480Asn)
c.7502T>A (p.Ile2501Asn)
c.7499T>A (p.Ile2500Asn)
c.7445T>A (p.Ile2482Asn)
c.7415T>A (p.Ile2472Asn)
c.7370T>A (p.Ile2457Asn)
c.6965T>A (p.Ile2322Asn)
c.6323T>A (p.Ile2108Asn)
c.3833T>A (p.Ile1278Asn)
10g.71799577T>CCA377159502CDH23c.7310T>C (p.Ile2437Thr)
c.1243T>C (n.1243T>C)
c.907T>C (n.907T>C)
c.7325T>C (p.Ile2442Thr)
c.590T>C (p.Ile197Thr)
n.846T>C
c.7505T>C (p.Ile2502Thr)
c.7439T>C (p.Ile2480Thr)
c.7502T>C (p.Ile2501Thr)
c.7499T>C (p.Ile2500Thr)
c.7445T>C (p.Ile2482Thr)
c.7415T>C (p.Ile2472Thr)
c.7370T>C (p.Ile2457Thr)
c.6965T>C (p.Ile2322Thr)
c.6323T>C (p.Ile2108Thr)
c.3833T>C (p.Ile1278Thr)
10g.71799577T>GCA377159504CDH23c.7310T>G (p.Ile2437Ser)
c.1243T>G (n.1243T>G)
c.907T>G (n.907T>G)
c.7325T>G (p.Ile2442Ser)
c.590T>G (p.Ile197Ser)
n.846T>G
c.7505T>G (p.Ile2502Ser)
c.7439T>G (p.Ile2480Ser)
c.7502T>G (p.Ile2501Ser)
c.7499T>G (p.Ile2500Ser)
c.7445T>G (p.Ile2482Ser)
c.7415T>G (p.Ile2472Ser)
c.7370T>G (p.Ile2457Ser)
c.6965T>G (p.Ile2322Ser)
c.6323T>G (p.Ile2108Ser)
c.3833T>G (p.Ile1278Ser)
10g.71799578T>ACA470062202CDH23c.7311T>A (p.Ile2437=)
c.1244T>A (n.1244T>A)
c.908T>A (n.908T>A)
c.7326T>A (p.Ile2442=)
c.591T>A (p.Ile197=)
n.847T>A
c.7506T>A (p.Ile2502=)
c.7440T>A (p.Ile2480=)
c.7503T>A (p.Ile2501=)
c.7500T>A (p.Ile2500=)
c.7446T>A (p.Ile2482=)
c.7416T>A (p.Ile2472=)
c.7371T>A (p.Ile2457=)
c.6966T>A (p.Ile2322=)
c.6324T>A (p.Ile2108=)
c.3834T>A (p.Ile1278=)
10g.71799578T>CCA470062203CDH23c.7311T>C (p.Ile2437=)
c.1244T>C (n.1244T>C)
c.908T>C (n.908T>C)
c.7326T>C (p.Ile2442=)
c.591T>C (p.Ile197=)
n.847T>C
c.7506T>C (p.Ile2502=)
c.7440T>C (p.Ile2480=)
c.7503T>C (p.Ile2501=)
c.7500T>C (p.Ile2500=)
c.7446T>C (p.Ile2482=)
c.7416T>C (p.Ile2472=)
c.7371T>C (p.Ile2457=)
c.6966T>C (p.Ile2322=)
c.6324T>C (p.Ile2108=)
c.3834T>C (p.Ile1278=)
10g.71799578T>GCA377159506CDH23c.7311T>G (p.Ile2437Met)
c.1244T>G (n.1244T>G)
c.908T>G (n.908T>G)
c.7326T>G (p.Ile2442Met)
c.591T>G (p.Ile197Met)
n.847T>G
c.7506T>G (p.Ile2502Met)
c.7440T>G (p.Ile2480Met)
c.7503T>G (p.Ile2501Met)
c.7500T>G (p.Ile2500Met)
c.7446T>G (p.Ile2482Met)
c.7416T>G (p.Ile2472Met)
c.7371T>G (p.Ile2457Met)
c.6966T>G (p.Ile2322Met)
c.6324T>G (p.Ile2108Met)
c.3834T>G (p.Ile1278Met)
 gnomAD v4
10g.71799579G>ACA377159510CDH23c.7312G>A (p.Glu2438Lys)
c.1245G>A (n.1245G>A)
c.909G>A (n.909G>A)
c.7327G>A (p.Glu2443Lys)
c.592G>A (p.Glu198Lys)
n.848G>A
c.7507G>A (p.Glu2503Lys)
c.7441G>A (p.Glu2481Lys)
c.7504G>A (p.Glu2502Lys)
c.7501G>A (p.Glu2501Lys)
c.7447G>A (p.Glu2483Lys)
c.7417G>A (p.Glu2473Lys)
c.7372G>A (p.Glu2458Lys)
c.6967G>A (p.Glu2323Lys)
c.6325G>A (p.Glu2109Lys)
c.3835G>A (p.Glu1279Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71799579G>CCA377159512CDH23c.7312G>C (p.Glu2438Gln)
c.1245G>C (n.1245G>C)
c.909G>C (n.909G>C)
c.7327G>C (p.Glu2443Gln)
c.592G>C (p.Glu198Gln)
n.848G>C
c.7507G>C (p.Glu2503Gln)
c.7441G>C (p.Glu2481Gln)
c.7504G>C (p.Glu2502Gln)
c.7501G>C (p.Glu2501Gln)
c.7447G>C (p.Glu2483Gln)
c.7417G>C (p.Glu2473Gln)
c.7372G>C (p.Glu2458Gln)
c.6967G>C (p.Glu2323Gln)
c.6325G>C (p.Glu2109Gln)
c.3835G>C (p.Glu1279Gln)
10g.71799579G=CA1918878932CDH23c.7312G= (p.Glu2438=)
c.1245G= (n.1245G=)
c.909G= (n.909G=)
c.7327G= (p.Glu2443=)
c.592G= (p.Glu198=)
n.848G=
c.7507G= (p.Glu2503=)
c.7441G= (p.Glu2481=)
c.7504G= (p.Glu2502=)
c.7501G= (p.Glu2501=)
c.7447G= (p.Glu2483=)
c.7417G= (p.Glu2473=)
c.7372G= (p.Glu2458=)
c.6967G= (p.Glu2323=)
c.6325G= (p.Glu2109=)
c.3835G= (p.Glu1279=)
10g.71799579G>TCA377159514CDH23c.7312G>T (p.Glu2438Ter)
c.1245G>T (n.1245G>T)
c.909G>T (n.909G>T)
c.7327G>T (p.Glu2443Ter)
c.592G>T (p.Glu198Ter)
n.848G>T
c.7507G>T (p.Glu2503Ter)
c.7441G>T (p.Glu2481Ter)
c.7504G>T (p.Glu2502Ter)
c.7501G>T (p.Glu2501Ter)
c.7447G>T (p.Glu2483Ter)
c.7417G>T (p.Glu2473Ter)
c.7372G>T (p.Glu2458Ter)
c.6967G>T (p.Glu2323Ter)
c.6325G>T (p.Glu2109Ter)
c.3835G>T (p.Glu1279Ter)
10g.71799580A>CCA377159515CDH23c.7313A>C (p.Glu2438Ala)
c.1246A>C (n.1246A>C)
c.910A>C (n.910A>C)
c.7328A>C (p.Glu2443Ala)
c.593A>C (p.Glu198Ala)
n.849A>C
c.7508A>C (p.Glu2503Ala)
c.7442A>C (p.Glu2481Ala)
c.7505A>C (p.Glu2502Ala)
c.7502A>C (p.Glu2501Ala)
c.7448A>C (p.Glu2483Ala)
c.7418A>C (p.Glu2473Ala)
c.7373A>C (p.Glu2458Ala)
c.6968A>C (p.Glu2323Ala)
c.6326A>C (p.Glu2109Ala)
c.3836A>C (p.Glu1279Ala)
10g.71799580A>GCA377159519CDH23c.7313A>G (p.Glu2438Gly)
c.1246A>G (n.1246A>G)
c.910A>G (n.910A>G)
c.7328A>G (p.Glu2443Gly)
c.593A>G (p.Glu198Gly)
n.849A>G
c.7508A>G (p.Glu2503Gly)
c.7442A>G (p.Glu2481Gly)
c.7505A>G (p.Glu2502Gly)
c.7502A>G (p.Glu2501Gly)
c.7448A>G (p.Glu2483Gly)
c.7418A>G (p.Glu2473Gly)
c.7373A>G (p.Glu2458Gly)
c.6968A>G (p.Glu2323Gly)
c.6326A>G (p.Glu2109Gly)
c.3836A>G (p.Glu1279Gly)
10g.71799580A>TCA377159523CDH23c.7313A>T (p.Glu2438Val)
c.1246A>T (n.1246A>T)
c.910A>T (n.910A>T)
c.7328A>T (p.Glu2443Val)
c.593A>T (p.Glu198Val)
n.849A>T
c.7508A>T (p.Glu2503Val)
c.7442A>T (p.Glu2481Val)
c.7505A>T (p.Glu2502Val)
c.7502A>T (p.Glu2501Val)
c.7448A>T (p.Glu2483Val)
c.7418A>T (p.Glu2473Val)
c.7373A>T (p.Glu2458Val)
c.6968A>T (p.Glu2323Val)
c.6326A>T (p.Glu2109Val)
c.3836A>T (p.Glu1279Val)
10g.71799581G>ACA5546305CDH23c.7314G>A (p.Glu2438=)
c.1247G>A (n.1247G>A)
c.911G>A (n.911G>A)
c.7329G>A (p.Glu2443=)
c.594G>A (p.Glu198=)
n.850G>A
c.7509G>A (p.Glu2503=)
c.7443G>A (p.Glu2481=)
c.7506G>A (p.Glu2502=)
c.7503G>A (p.Glu2501=)
c.7449G>A (p.Glu2483=)
c.7419G>A (p.Glu2473=)
c.7374G>A (p.Glu2458=)
c.6969G>A (p.Glu2323=)
c.6327G>A (p.Glu2109=)
c.3837G>A (p.Glu1279=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71799581G>CCA377159527CDH23c.7314G>C (p.Glu2438Asp)
c.1247G>C (n.1247G>C)
c.911G>C (n.911G>C)
c.7329G>C (p.Glu2443Asp)
c.594G>C (p.Glu198Asp)
n.850G>C
c.7509G>C (p.Glu2503Asp)
c.7443G>C (p.Glu2481Asp)
c.7506G>C (p.Glu2502Asp)
c.7503G>C (p.Glu2501Asp)
c.7449G>C (p.Glu2483Asp)
c.7419G>C (p.Glu2473Asp)
c.7374G>C (p.Glu2458Asp)
c.6969G>C (p.Glu2323Asp)
c.6327G>C (p.Glu2109Asp)
c.3837G>C (p.Glu1279Asp)
10g.71799581G=CA1918878933CDH23c.7314G= (p.Glu2438=)
c.1247G= (n.1247G=)
c.911G= (n.911G=)
c.7329G= (p.Glu2443=)
c.594G= (p.Glu198=)
n.850G=
c.7509G= (p.Glu2503=)
c.7443G= (p.Glu2481=)
c.7506G= (p.Glu2502=)
c.7503G= (p.Glu2501=)
c.7449G= (p.Glu2483=)
c.7419G= (p.Glu2473=)
c.7374G= (p.Glu2458=)
c.6969G= (p.Glu2323=)
c.6327G= (p.Glu2109=)
c.3837G= (p.Glu1279=)
10g.71799581G>TCA377159530CDH23c.7314G>T (p.Glu2438Asp)
c.1247G>T (n.1247G>T)
c.911G>T (n.911G>T)
c.7329G>T (p.Glu2443Asp)
c.594G>T (p.Glu198Asp)
n.850G>T
c.7509G>T (p.Glu2503Asp)
c.7443G>T (p.Glu2481Asp)
c.7506G>T (p.Glu2502Asp)
c.7503G>T (p.Glu2501Asp)
c.7449G>T (p.Glu2483Asp)
c.7419G>T (p.Glu2473Asp)
c.7374G>T (p.Glu2458Asp)
c.6969G>T (p.Glu2323Asp)
c.6327G>T (p.Glu2109Asp)
c.3837G>T (p.Glu1279Asp)
10g.71799582T>ACA377159532CDH23c.7315T>A (p.Tyr2439Asn)
c.1248T>A (n.1248T>A)
c.912T>A (n.912T>A)
c.7330T>A (p.Tyr2444Asn)
c.595T>A (p.Tyr199Asn)
n.851T>A
c.7510T>A (p.Tyr2504Asn)
c.7444T>A (p.Tyr2482Asn)
c.7507T>A (p.Tyr2503Asn)
c.7504T>A (p.Tyr2502Asn)
c.7450T>A (p.Tyr2484Asn)
c.7420T>A (p.Tyr2474Asn)
c.7375T>A (p.Tyr2459Asn)
c.6970T>A (p.Tyr2324Asn)
c.6328T>A (p.Tyr2110Asn)
c.3838T>A (p.Tyr1280Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71799582T>CCA377159539CDH23c.7315T>C (p.Tyr2439His)
c.1248T>C (n.1248T>C)
c.912T>C (n.912T>C)
c.7330T>C (p.Tyr2444His)
c.595T>C (p.Tyr199His)
n.851T>C
c.7510T>C (p.Tyr2504His)
c.7444T>C (p.Tyr2482His)
c.7507T>C (p.Tyr2503His)
c.7504T>C (p.Tyr2502His)
c.7450T>C (p.Tyr2484His)
c.7420T>C (p.Tyr2474His)
c.7375T>C (p.Tyr2459His)
c.6970T>C (p.Tyr2324His)
c.6328T>C (p.Tyr2110His)
c.3838T>C (p.Tyr1280His)
10g.71799582T>GCA377159542CDH23c.7315T>G (p.Tyr2439Asp)
c.1248T>G (n.1248T>G)
c.912T>G (n.912T>G)
c.7330T>G (p.Tyr2444Asp)
c.595T>G (p.Tyr199Asp)
n.851T>G
c.7510T>G (p.Tyr2504Asp)
c.7444T>G (p.Tyr2482Asp)
c.7507T>G (p.Tyr2503Asp)
c.7504T>G (p.Tyr2502Asp)
c.7450T>G (p.Tyr2484Asp)
c.7420T>G (p.Tyr2474Asp)
c.7375T>G (p.Tyr2459Asp)
c.6970T>G (p.Tyr2324Asp)
c.6328T>G (p.Tyr2110Asp)
c.3838T>G (p.Tyr1280Asp)
10g.71799582T=CA1918878934CDH23c.7315T= (p.Tyr2439=)
c.1248T= (n.1248T=)
c.912T= (n.912T=)
c.7330T= (p.Tyr2444=)
c.595T= (p.Tyr199=)
n.851T=
c.7510T= (p.Tyr2504=)
c.7444T= (p.Tyr2482=)
c.7507T= (p.Tyr2503=)
c.7504T= (p.Tyr2502=)
c.7450T= (p.Tyr2484=)
c.7420T= (p.Tyr2474=)
c.7375T= (p.Tyr2459=)
c.6970T= (p.Tyr2324=)
c.6328T= (p.Tyr2110=)
c.3838T= (p.Tyr1280=)
10g.71799583A=CA1918878935CDH23c.7316A= (p.Tyr2439=)
c.1249A= (n.1249A=)
c.913A= (n.913A=)
c.7331A= (p.Tyr2444=)
c.596A= (p.Tyr199=)
n.852A=
c.7511A= (p.Tyr2504=)
c.7445A= (p.Tyr2482=)
c.7508A= (p.Tyr2503=)
c.7505A= (p.Tyr2502=)
c.7451A= (p.Tyr2484=)
c.7421A= (p.Tyr2474=)
c.7376A= (p.Tyr2459=)
c.6971A= (p.Tyr2324=)
c.6329A= (p.Tyr2110=)
c.3839A= (p.Tyr1280=)
10g.71799583A>CCA377159545CDH23c.7316A>C (p.Tyr2439Ser)
c.1249A>C (n.1249A>C)
c.913A>C (n.913A>C)
c.7331A>C (p.Tyr2444Ser)
c.596A>C (p.Tyr199Ser)
n.852A>C
c.7511A>C (p.Tyr2504Ser)
c.7445A>C (p.Tyr2482Ser)
c.7508A>C (p.Tyr2503Ser)
c.7505A>C (p.Tyr2502Ser)
c.7451A>C (p.Tyr2484Ser)
c.7421A>C (p.Tyr2474Ser)
c.7376A>C (p.Tyr2459Ser)
c.6971A>C (p.Tyr2324Ser)
c.6329A>C (p.Tyr2110Ser)
c.3839A>C (p.Tyr1280Ser)
 dbSNP
10g.71799583A>GCA377159548CDH23c.7316A>G (p.Tyr2439Cys)
c.1249A>G (n.1249A>G)
c.913A>G (n.913A>G)
c.7331A>G (p.Tyr2444Cys)
c.596A>G (p.Tyr199Cys)
n.852A>G
c.7511A>G (p.Tyr2504Cys)
c.7445A>G (p.Tyr2482Cys)
c.7508A>G (p.Tyr2503Cys)
c.7505A>G (p.Tyr2502Cys)
c.7451A>G (p.Tyr2484Cys)
c.7421A>G (p.Tyr2474Cys)
c.7376A>G (p.Tyr2459Cys)
c.6971A>G (p.Tyr2324Cys)
c.6329A>G (p.Tyr2110Cys)
c.3839A>G (p.Tyr1280Cys)
10g.71799583A>TCA377159549CDH23c.7316A>T (p.Tyr2439Phe)
c.1249A>T (n.1249A>T)
c.913A>T (n.913A>T)
c.7331A>T (p.Tyr2444Phe)
c.596A>T (p.Tyr199Phe)
n.852A>T
c.7511A>T (p.Tyr2504Phe)
c.7445A>T (p.Tyr2482Phe)
c.7508A>T (p.Tyr2503Phe)
c.7505A>T (p.Tyr2502Phe)
c.7451A>T (p.Tyr2484Phe)
c.7421A>T (p.Tyr2474Phe)
c.7376A>T (p.Tyr2459Phe)
c.6971A>T (p.Tyr2324Phe)
c.6329A>T (p.Tyr2110Phe)
c.3839A>T (p.Tyr1280Phe)
10g.71799584C>ACA377159552CDH23c.7317C>A (p.Tyr2439Ter)
c.1250C>A (n.1250C>A)
c.914C>A (n.914C>A)
c.7332C>A (p.Tyr2444Ter)
c.597C>A (p.Tyr199Ter)
n.853C>A
c.7512C>A (p.Tyr2504Ter)
c.7446C>A (p.Tyr2482Ter)
c.7509C>A (p.Tyr2503Ter)
c.7506C>A (p.Tyr2502Ter)
c.7452C>A (p.Tyr2484Ter)
c.7422C>A (p.Tyr2474Ter)
c.7377C>A (p.Tyr2459Ter)
c.6972C>A (p.Tyr2324Ter)
c.6330C>A (p.Tyr2110Ter)
c.3840C>A (p.Tyr1280Ter)
10g.71799584C=CA1918878936CDH23c.7317C= (p.Tyr2439=)
c.1250C= (n.1250C=)
c.914C= (n.914C=)
c.7332C= (p.Tyr2444=)
c.597C= (p.Tyr199=)
n.853C=
c.7512C= (p.Tyr2504=)
c.7446C= (p.Tyr2482=)
c.7509C= (p.Tyr2503=)
c.7506C= (p.Tyr2502=)
c.7452C= (p.Tyr2484=)
c.7422C= (p.Tyr2474=)
c.7377C= (p.Tyr2459=)
c.6972C= (p.Tyr2324=)
c.6330C= (p.Tyr2110=)
c.3840C= (p.Tyr1280=)
10g.71799584C>GCA377159553CDH23c.7317C>G (p.Tyr2439Ter)
c.1250C>G (n.1250C>G)
c.914C>G (n.914C>G)
c.7332C>G (p.Tyr2444Ter)
c.597C>G (p.Tyr199Ter)
n.853C>G
c.7512C>G (p.Tyr2504Ter)
c.7446C>G (p.Tyr2482Ter)
c.7509C>G (p.Tyr2503Ter)
c.7506C>G (p.Tyr2502Ter)
c.7452C>G (p.Tyr2484Ter)
c.7422C>G (p.Tyr2474Ter)
c.7377C>G (p.Tyr2459Ter)
c.6972C>G (p.Tyr2324Ter)
c.6330C>G (p.Tyr2110Ter)
c.3840C>G (p.Tyr1280Ter)
10g.71799584C>TCA5546306CDH23c.7317C>T (p.Tyr2439=)
c.1250C>T (n.1250C>T)
c.914C>T (n.914C>T)
c.7332C>T (p.Tyr2444=)
c.597C>T (p.Tyr199=)
n.853C>T
c.7512C>T (p.Tyr2504=)
c.7446C>T (p.Tyr2482=)
c.7509C>T (p.Tyr2503=)
c.7506C>T (p.Tyr2502=)
c.7452C>T (p.Tyr2484=)
c.7422C>T (p.Tyr2474=)
c.7377C>T (p.Tyr2459=)
c.6972C>T (p.Tyr2324=)
c.6330C>T (p.Tyr2110=)
c.3840C>T (p.Tyr1280=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71799585A>CCA377159557CDH23c.7318A>C (p.Ser2440Arg)
c.1251A>C (n.1251A>C)
c.915A>C (n.915A>C)
c.7333A>C (p.Ser2445Arg)
c.598A>C (p.Ser200Arg)
n.854A>C
c.7513A>C (p.Ser2505Arg)
c.7447A>C (p.Ser2483Arg)
c.7510A>C (p.Ser2504Arg)
c.7507A>C (p.Ser2503Arg)
c.7453A>C (p.Ser2485Arg)
c.7423A>C (p.Ser2475Arg)
c.7378A>C (p.Ser2460Arg)
c.6973A>C (p.Ser2325Arg)
c.6331A>C (p.Ser2111Arg)
c.3841A>C (p.Ser1281Arg)
10g.71799585A>GCA377159559CDH23c.7318A>G (p.Ser2440Gly)
c.1251A>G (n.1251A>G)
c.915A>G (n.915A>G)
c.7333A>G (p.Ser2445Gly)
c.598A>G (p.Ser200Gly)
n.854A>G
c.7513A>G (p.Ser2505Gly)
c.7447A>G (p.Ser2483Gly)
c.7510A>G (p.Ser2504Gly)
c.7507A>G (p.Ser2503Gly)
c.7453A>G (p.Ser2485Gly)
c.7423A>G (p.Ser2475Gly)
c.7378A>G (p.Ser2460Gly)
c.6973A>G (p.Ser2325Gly)
c.6331A>G (p.Ser2111Gly)
c.3841A>G (p.Ser1281Gly)
10g.71799585A>TCA377159562CDH23c.7318A>T (p.Ser2440Cys)
c.1251A>T (n.1251A>T)
c.915A>T (n.915A>T)
c.7333A>T (p.Ser2445Cys)
c.598A>T (p.Ser200Cys)
n.854A>T
c.7513A>T (p.Ser2505Cys)
c.7447A>T (p.Ser2483Cys)
c.7510A>T (p.Ser2504Cys)
c.7507A>T (p.Ser2503Cys)
c.7453A>T (p.Ser2485Cys)
c.7423A>T (p.Ser2475Cys)
c.7378A>T (p.Ser2460Cys)
c.6973A>T (p.Ser2325Cys)
c.6331A>T (p.Ser2111Cys)
c.3841A>T (p.Ser1281Cys)
10g.71799586G>ACA377159566CDH23c.7319G>A (p.Ser2440Asn)
c.1252G>A (n.1252G>A)
c.916G>A (n.916G>A)
c.7334G>A (p.Ser2445Asn)
c.599G>A (p.Ser200Asn)
n.855G>A
c.7514G>A (p.Ser2505Asn)
c.7448G>A (p.Ser2483Asn)
c.7511G>A (p.Ser2504Asn)
c.7508G>A (p.Ser2503Asn)
c.7454G>A (p.Ser2485Asn)
c.7424G>A (p.Ser2475Asn)
c.7379G>A (p.Ser2460Asn)
c.6974G>A (p.Ser2325Asn)
c.6332G>A (p.Ser2111Asn)
c.3842G>A (p.Ser1281Asn)
 ClinVar dbSNP
10g.71799586G>CCA377159571CDH23c.7319G>C (p.Ser2440Thr)
c.1252G>C (n.1252G>C)
c.916G>C (n.916G>C)
c.7334G>C (p.Ser2445Thr)
c.599G>C (p.Ser200Thr)
n.855G>C
c.7514G>C (p.Ser2505Thr)
c.7448G>C (p.Ser2483Thr)
c.7511G>C (p.Ser2504Thr)
c.7508G>C (p.Ser2503Thr)
c.7454G>C (p.Ser2485Thr)
c.7424G>C (p.Ser2475Thr)
c.7379G>C (p.Ser2460Thr)
c.6974G>C (p.Ser2325Thr)
c.6332G>C (p.Ser2111Thr)
c.3842G>C (p.Ser1281Thr)
10g.71799586G=CA1918878937CDH23c.7319G= (p.Ser2440=)
c.1252G= (n.1252G=)
c.916G= (n.916G=)
c.7334G= (p.Ser2445=)
c.599G= (p.Ser200=)
n.855G=
c.7514G= (p.Ser2505=)
c.7448G= (p.Ser2483=)
c.7511G= (p.Ser2504=)
c.7508G= (p.Ser2503=)
c.7454G= (p.Ser2485=)
c.7424G= (p.Ser2475=)
c.7379G= (p.Ser2460=)
c.6974G= (p.Ser2325=)
c.6332G= (p.Ser2111=)
c.3842G= (p.Ser1281=)
10g.71799586G>TCA377159568CDH23c.7319G>T (p.Ser2440Ile)
c.1252G>T (n.1252G>T)
c.916G>T (n.916G>T)
c.7334G>T (p.Ser2445Ile)
c.599G>T (p.Ser200Ile)
n.855G>T
c.7514G>T (p.Ser2505Ile)
c.7448G>T (p.Ser2483Ile)
c.7511G>T (p.Ser2504Ile)
c.7508G>T (p.Ser2503Ile)
c.7454G>T (p.Ser2485Ile)
c.7424G>T (p.Ser2475Ile)
c.7379G>T (p.Ser2460Ile)
c.6974G>T (p.Ser2325Ile)
c.6332G>T (p.Ser2111Ile)
c.3842G>T (p.Ser1281Ile)
10g.71799587C>ACA377159573CDH23c.7320C>A (p.Ser2440Arg)
c.1253C>A (n.1253C>A)
c.917C>A (n.917C>A)
c.7335C>A (p.Ser2445Arg)
c.600C>A (p.Ser200Arg)
n.856C>A
c.7515C>A (p.Ser2505Arg)
c.7449C>A (p.Ser2483Arg)
c.7512C>A (p.Ser2504Arg)
c.7509C>A (p.Ser2503Arg)
c.7455C>A (p.Ser2485Arg)
c.7425C>A (p.Ser2475Arg)
c.7380C>A (p.Ser2460Arg)
c.6975C>A (p.Ser2325Arg)
c.6333C>A (p.Ser2111Arg)
c.3843C>A (p.Ser1281Arg)
10g.71799587C>GCA377159576CDH23c.7320C>G (p.Ser2440Arg)
c.1253C>G (n.1253C>G)
c.917C>G (n.917C>G)
c.7335C>G (p.Ser2445Arg)
c.600C>G (p.Ser200Arg)
n.856C>G
c.7515C>G (p.Ser2505Arg)
c.7449C>G (p.Ser2483Arg)
c.7512C>G (p.Ser2504Arg)
c.7509C>G (p.Ser2503Arg)
c.7455C>G (p.Ser2485Arg)
c.7425C>G (p.Ser2475Arg)
c.7380C>G (p.Ser2460Arg)
c.6975C>G (p.Ser2325Arg)
c.6333C>G (p.Ser2111Arg)
c.3843C>G (p.Ser1281Arg)
10g.71799587C>TCA470062204CDH23c.7320C>T (p.Ser2440=)
c.1253C>T (n.1253C>T)
c.917C>T (n.917C>T)
c.7335C>T (p.Ser2445=)
c.600C>T (p.Ser200=)
n.856C>T
c.7515C>T (p.Ser2505=)
c.7449C>T (p.Ser2483=)
c.7512C>T (p.Ser2504=)
c.7509C>T (p.Ser2503=)
c.7455C>T (p.Ser2485=)
c.7425C>T (p.Ser2475=)
c.7380C>T (p.Ser2460=)
c.6975C>T (p.Ser2325=)
c.6333C>T (p.Ser2111=)
c.3843C>T (p.Ser1281=)
10g.71799588C>ACA377159581CDH23c.7321C>A (p.Leu2441Ile)
c.1254C>A (n.1254C>A)
c.918C>A (n.918C>A)
c.7336C>A (p.Leu2446Ile)
c.601C>A (p.Leu201Ile)
n.857C>A
c.7516C>A (p.Leu2506Ile)
c.7450C>A (p.Leu2484Ile)
c.7513C>A (p.Leu2505Ile)
c.7510C>A (p.Leu2504Ile)
c.7456C>A (p.Leu2486Ile)
c.7426C>A (p.Leu2476Ile)
c.7381C>A (p.Leu2461Ile)
c.6976C>A (p.Leu2326Ile)
c.6334C>A (p.Leu2112Ile)
c.3844C>A (p.Leu1282Ile)
10g.71799588C>GCA377159584CDH23c.7321C>G (p.Leu2441Val)
c.1254C>G (n.1254C>G)
c.918C>G (n.918C>G)
c.7336C>G (p.Leu2446Val)
c.601C>G (p.Leu201Val)
n.857C>G
c.7516C>G (p.Leu2506Val)
c.7450C>G (p.Leu2484Val)
c.7513C>G (p.Leu2505Val)
c.7510C>G (p.Leu2504Val)
c.7456C>G (p.Leu2486Val)
c.7426C>G (p.Leu2476Val)
c.7381C>G (p.Leu2461Val)
c.6976C>G (p.Leu2326Val)
c.6334C>G (p.Leu2112Val)
c.3844C>G (p.Leu1282Val)
10g.71799588C>TCA377159586CDH23c.7321C>T (p.Leu2441Phe)
c.1254C>T (n.1254C>T)
c.918C>T (n.918C>T)
c.7336C>T (p.Leu2446Phe)
c.601C>T (p.Leu201Phe)
n.857C>T
c.7516C>T (p.Leu2506Phe)
c.7450C>T (p.Leu2484Phe)
c.7513C>T (p.Leu2505Phe)
c.7510C>T (p.Leu2504Phe)
c.7456C>T (p.Leu2486Phe)
c.7426C>T (p.Leu2476Phe)
c.7381C>T (p.Leu2461Phe)
c.6976C>T (p.Leu2326Phe)
c.6334C>T (p.Leu2112Phe)
c.3844C>T (p.Leu1282Phe)
10g.71799589T>ACA377159589CDH23c.7322T>A (p.Leu2441His)
c.1255T>A (n.1255T>A)
c.919T>A (n.919T>A)
c.7337T>A (p.Leu2446His)
c.602T>A (p.Leu201His)
n.858T>A
c.7517T>A (p.Leu2506His)
c.7451T>A (p.Leu2484His)
c.7514T>A (p.Leu2505His)
c.7511T>A (p.Leu2504His)
c.7457T>A (p.Leu2486His)
c.7427T>A (p.Leu2476His)
c.7382T>A (p.Leu2461His)
c.6977T>A (p.Leu2326His)
c.6335T>A (p.Leu2112His)
c.3845T>A (p.Leu1282His)
10g.71799589T>CCA377159591CDH23c.7322T>C (p.Leu2441Pro)
c.1255T>C (n.1255T>C)
c.919T>C (n.919T>C)
c.7337T>C (p.Leu2446Pro)
c.602T>C (p.Leu201Pro)
n.858T>C
c.7517T>C (p.Leu2506Pro)
c.7451T>C (p.Leu2484Pro)
c.7514T>C (p.Leu2505Pro)
c.7511T>C (p.Leu2504Pro)
c.7457T>C (p.Leu2486Pro)
c.7427T>C (p.Leu2476Pro)
c.7382T>C (p.Leu2461Pro)
c.6977T>C (p.Leu2326Pro)
c.6335T>C (p.Leu2112Pro)
c.3845T>C (p.Leu1282Pro)
 dbSNP
10g.71799589T>GCA377159593CDH23c.7322T>G (p.Leu2441Arg)
c.1255T>G (n.1255T>G)
c.919T>G (n.919T>G)
c.7337T>G (p.Leu2446Arg)
c.602T>G (p.Leu201Arg)
n.858T>G
c.7517T>G (p.Leu2506Arg)
c.7451T>G (p.Leu2484Arg)
c.7514T>G (p.Leu2505Arg)
c.7511T>G (p.Leu2504Arg)
c.7457T>G (p.Leu2486Arg)
c.7427T>G (p.Leu2476Arg)
c.7382T>G (p.Leu2461Arg)
c.6977T>G (p.Leu2326Arg)
c.6335T>G (p.Leu2112Arg)
c.3845T>G (p.Leu1282Arg)
10g.71799590T>ACA470062205CDH23c.7323T>A (p.Leu2441=)
c.1256T>A (n.1256T>A)
c.920T>A (n.920T>A)
c.7338T>A (p.Leu2446=)
c.603T>A (p.Leu201=)
n.859T>A
c.7518T>A (p.Leu2506=)
c.7452T>A (p.Leu2484=)
c.7515T>A (p.Leu2505=)
c.7512T>A (p.Leu2504=)
c.7458T>A (p.Leu2486=)
c.7428T>A (p.Leu2476=)
c.7383T>A (p.Leu2461=)
c.6978T>A (p.Leu2326=)
c.6336T>A (p.Leu2112=)
c.3846T>A (p.Leu1282=)
10g.71799590T>CCA470062206CDH23c.7323T>C (p.Leu2441=)
c.1256T>C (n.1256T>C)
c.920T>C (n.920T>C)
c.7338T>C (p.Leu2446=)
c.603T>C (p.Leu201=)
n.859T>C
c.7518T>C (p.Leu2506=)
c.7452T>C (p.Leu2484=)
c.7515T>C (p.Leu2505=)
c.7512T>C (p.Leu2504=)
c.7458T>C (p.Leu2486=)
c.7428T>C (p.Leu2476=)
c.7383T>C (p.Leu2461=)
c.6978T>C (p.Leu2326=)
c.6336T>C (p.Leu2112=)
c.3846T>C (p.Leu1282=)
10g.71799590T>GCA470062207CDH23c.7323T>G (p.Leu2441=)
c.1256T>G (n.1256T>G)
c.920T>G (n.920T>G)
c.7338T>G (p.Leu2446=)
c.603T>G (p.Leu201=)
n.859T>G
c.7518T>G (p.Leu2506=)
c.7452T>G (p.Leu2484=)
c.7515T>G (p.Leu2505=)
c.7512T>G (p.Leu2504=)
c.7458T>G (p.Leu2486=)
c.7428T>G (p.Leu2476=)
c.7383T>G (p.Leu2461=)
c.6978T>G (p.Leu2326=)
c.6336T>G (p.Leu2112=)
c.3846T>G (p.Leu1282=)
10g.71799591G>ACA377159595CDH23c.7324G>A (p.Gly2442Arg)
c.1257G>A (n.1257G>A)
c.921G>A (n.921G>A)
c.7339G>A (p.Gly2447Arg)
c.604G>A (p.Gly202Arg)
n.860G>A
c.7519G>A (p.Gly2507Arg)
c.7453G>A (p.Gly2485Arg)
c.7516G>A (p.Gly2506Arg)
c.7513G>A (p.Gly2505Arg)
c.7459G>A (p.Gly2487Arg)
c.7429G>A (p.Gly2477Arg)
c.7384G>A (p.Gly2462Arg)
c.6979G>A (p.Gly2327Arg)
c.6337G>A (p.Gly2113Arg)
c.3847G>A (p.Gly1283Arg)
10g.71799591G>CCA377159596CDH23c.7324G>C (p.Gly2442Arg)
c.1257G>C (n.1257G>C)
c.921G>C (n.921G>C)
c.7339G>C (p.Gly2447Arg)
c.604G>C (p.Gly202Arg)
n.860G>C
c.7519G>C (p.Gly2507Arg)
c.7453G>C (p.Gly2485Arg)
c.7516G>C (p.Gly2506Arg)
c.7513G>C (p.Gly2505Arg)
c.7459G>C (p.Gly2487Arg)
c.7429G>C (p.Gly2477Arg)
c.7384G>C (p.Gly2462Arg)
c.6979G>C (p.Gly2327Arg)
c.6337G>C (p.Gly2113Arg)
c.3847G>C (p.Gly1283Arg)
10g.71799591G>TCA377159598CDH23c.7324G>T (p.Gly2442Ter)
c.1257G>T (n.1257G>T)
c.921G>T (n.921G>T)
c.7339G>T (p.Gly2447Ter)
c.604G>T (p.Gly202Ter)
n.860G>T
c.7519G>T (p.Gly2507Ter)
c.7453G>T (p.Gly2485Ter)
c.7516G>T (p.Gly2506Ter)
c.7513G>T (p.Gly2505Ter)
c.7459G>T (p.Gly2487Ter)
c.7429G>T (p.Gly2477Ter)
c.7384G>T (p.Gly2462Ter)
c.6979G>T (p.Gly2327Ter)
c.6337G>T (p.Gly2113Ter)
c.3847G>T (p.Gly1283Ter)
 COSMIC
10g.71799592G>ACA377159600CDH23c.7325G>A (p.Gly2442Glu)
c.1258G>A (n.1258G>A)
c.922G>A (n.922G>A)
c.7340G>A (p.Gly2447Glu)
c.605G>A (p.Gly202Glu)
n.861G>A
c.7520G>A (p.Gly2507Glu)
c.7454G>A (p.Gly2485Glu)
c.7517G>A (p.Gly2506Glu)
c.7514G>A (p.Gly2505Glu)
c.7460G>A (p.Gly2487Glu)
c.7430G>A (p.Gly2477Glu)
c.7385G>A (p.Gly2462Glu)
c.6980G>A (p.Gly2327Glu)
c.6338G>A (p.Gly2113Glu)
c.3848G>A (p.Gly1283Glu)
 COSMIC
10g.71799592G>CCA377159601CDH23c.7325G>C (p.Gly2442Ala)
c.1258G>C (n.1258G>C)
c.922G>C (n.922G>C)
c.7340G>C (p.Gly2447Ala)
c.605G>C (p.Gly202Ala)
n.861G>C
c.7520G>C (p.Gly2507Ala)
c.7454G>C (p.Gly2485Ala)
c.7517G>C (p.Gly2506Ala)
c.7514G>C (p.Gly2505Ala)
c.7460G>C (p.Gly2487Ala)
c.7430G>C (p.Gly2477Ala)
c.7385G>C (p.Gly2462Ala)
c.6980G>C (p.Gly2327Ala)
c.6338G>C (p.Gly2113Ala)
c.3848G>C (p.Gly1283Ala)
10g.71799592G>TCA377159604CDH23c.7325G>T (p.Gly2442Val)
c.1258G>T (n.1258G>T)
c.922G>T (n.922G>T)
c.7340G>T (p.Gly2447Val)
c.605G>T (p.Gly202Val)
n.861G>T
c.7520G>T (p.Gly2507Val)
c.7454G>T (p.Gly2485Val)
c.7517G>T (p.Gly2506Val)
c.7514G>T (p.Gly2505Val)
c.7460G>T (p.Gly2487Val)
c.7430G>T (p.Gly2477Val)
c.7385G>T (p.Gly2462Val)
c.6980G>T (p.Gly2327Val)
c.6338G>T (p.Gly2113Val)
c.3848G>T (p.Gly1283Val)
10g.71799593A>CCA470062210CDH23c.7326A>C (p.Gly2442=)
c.1259A>C (n.1259A>C)
c.923A>C (n.923A>C)
c.7341A>C (p.Gly2447=)
c.606A>C (p.Gly202=)
n.862A>C
c.7521A>C (p.Gly2507=)
c.7455A>C (p.Gly2485=)
c.7518A>C (p.Gly2506=)
c.7515A>C (p.Gly2505=)
c.7461A>C (p.Gly2487=)
c.7431A>C (p.Gly2477=)
c.7386A>C (p.Gly2462=)
c.6981A>C (p.Gly2327=)
c.6339A>C (p.Gly2113=)
c.3849A>C (p.Gly1283=)
10g.71799593A>GCA470062208CDH23c.7326A>G (p.Gly2442=)
c.1259A>G (n.1259A>G)
c.923A>G (n.923A>G)
c.7341A>G (p.Gly2447=)
c.606A>G (p.Gly202=)
n.862A>G
c.7521A>G (p.Gly2507=)
c.7455A>G (p.Gly2485=)
c.7518A>G (p.Gly2506=)
c.7515A>G (p.Gly2505=)
c.7461A>G (p.Gly2487=)
c.7431A>G (p.Gly2477=)
c.7386A>G (p.Gly2462=)
c.6981A>G (p.Gly2327=)
c.6339A>G (p.Gly2113=)
c.3849A>G (p.Gly1283=)
10g.71799593A>TCA470062209CDH23c.7326A>T (p.Gly2442=)
c.1259A>T (n.1259A>T)
c.923A>T (n.923A>T)
c.7341A>T (p.Gly2447=)
c.606A>T (p.Gly202=)
n.862A>T
c.7521A>T (p.Gly2507=)
c.7455A>T (p.Gly2485=)
c.7518A>T (p.Gly2506=)
c.7515A>T (p.Gly2505=)
c.7461A>T (p.Gly2487=)
c.7431A>T (p.Gly2477=)
c.7386A>T (p.Gly2462=)
c.6981A>T (p.Gly2327=)
c.6339A>T (p.Gly2113=)
c.3849A>T (p.Gly1283=)
10g.71799594G>ACA377159610CDH23c.7327G>A (p.Asp2443Asn)
c.1260G>A (n.1260G>A)
c.924G>A (n.924G>A)
c.7342G>A (p.Asp2448Asn)
c.607G>A (p.Asp203Asn)
n.863G>A
c.7522G>A (p.Asp2508Asn)
c.7456G>A (p.Asp2486Asn)
c.7519G>A (p.Asp2507Asn)
c.7516G>A (p.Asp2506Asn)
c.7462G>A (p.Asp2488Asn)
c.7432G>A (p.Asp2478Asn)
c.7387G>A (p.Asp2463Asn)
c.6982G>A (p.Asp2328Asn)
c.6340G>A (p.Asp2114Asn)
c.3850G>A (p.Asp1284Asn)
 gnomAD v4
10g.71799594G>CCA377159605CDH23c.7327G>C (p.Asp2443His)
c.1260G>C (n.1260G>C)
c.924G>C (n.924G>C)
c.7342G>C (p.Asp2448His)
c.607G>C (p.Asp203His)
n.863G>C
c.7522G>C (p.Asp2508His)
c.7456G>C (p.Asp2486His)
c.7519G>C (p.Asp2507His)
c.7516G>C (p.Asp2506His)
c.7462G>C (p.Asp2488His)
c.7432G>C (p.Asp2478His)
c.7387G>C (p.Asp2463His)
c.6982G>C (p.Asp2328His)
c.6340G>C (p.Asp2114His)
c.3850G>C (p.Asp1284His)
10g.71799594G>TCA377159607CDH23c.7327G>T (p.Asp2443Tyr)
c.1260G>T (n.1260G>T)
c.924G>T (n.924G>T)
c.7342G>T (p.Asp2448Tyr)
c.607G>T (p.Asp203Tyr)
n.863G>T
c.7522G>T (p.Asp2508Tyr)
c.7456G>T (p.Asp2486Tyr)
c.7519G>T (p.Asp2507Tyr)
c.7516G>T (p.Asp2506Tyr)
c.7462G>T (p.Asp2488Tyr)
c.7432G>T (p.Asp2478Tyr)
c.7387G>T (p.Asp2463Tyr)
c.6982G>T (p.Asp2328Tyr)
c.6340G>T (p.Asp2114Tyr)
c.3850G>T (p.Asp1284Tyr)
10g.71799595A>CCA377159612CDH23c.7328A>C (p.Asp2443Ala)
c.1261A>C (n.1261A>C)
c.925A>C (n.925A>C)
c.7343A>C (p.Asp2448Ala)
c.608A>C (p.Asp203Ala)
n.864A>C
c.7523A>C (p.Asp2508Ala)
c.7457A>C (p.Asp2486Ala)
c.7520A>C (p.Asp2507Ala)
c.7517A>C (p.Asp2506Ala)
c.7463A>C (p.Asp2488Ala)
c.7433A>C (p.Asp2478Ala)
c.7388A>C (p.Asp2463Ala)
c.6983A>C (p.Asp2328Ala)
c.6341A>C (p.Asp2114Ala)
c.3851A>C (p.Asp1284Ala)
10g.71799595A>GCA377159613CDH23c.7328A>G (p.Asp2443Gly)
c.1261A>G (n.1261A>G)
c.925A>G (n.925A>G)
c.7343A>G (p.Asp2448Gly)
c.608A>G (p.Asp203Gly)
n.864A>G
c.7523A>G (p.Asp2508Gly)
c.7457A>G (p.Asp2486Gly)
c.7520A>G (p.Asp2507Gly)
c.7517A>G (p.Asp2506Gly)
c.7463A>G (p.Asp2488Gly)
c.7433A>G (p.Asp2478Gly)
c.7388A>G (p.Asp2463Gly)
c.6983A>G (p.Asp2328Gly)
c.6341A>G (p.Asp2114Gly)
c.3851A>G (p.Asp1284Gly)
10g.71799595A>TCA377159615CDH23c.7328A>T (p.Asp2443Val)
c.1261A>T (n.1261A>T)
c.925A>T (n.925A>T)
c.7343A>T (p.Asp2448Val)
c.608A>T (p.Asp203Val)
n.864A>T
c.7523A>T (p.Asp2508Val)
c.7457A>T (p.Asp2486Val)
c.7520A>T (p.Asp2507Val)
c.7517A>T (p.Asp2506Val)
c.7463A>T (p.Asp2488Val)
c.7433A>T (p.Asp2478Val)
c.7388A>T (p.Asp2463Val)
c.6983A>T (p.Asp2328Val)
c.6341A>T (p.Asp2114Val)
c.3851A>T (p.Asp1284Val)
10g.71799596T>ACA377159616CDH23c.7329T>A (p.Asp2443Glu)
c.1262T>A (n.1262T>A)
c.926T>A (n.926T>A)
c.7344T>A (p.Asp2448Glu)
c.609T>A (p.Asp203Glu)
n.865T>A
c.7524T>A (p.Asp2508Glu)
c.7458T>A (p.Asp2486Glu)
c.7521T>A (p.Asp2507Glu)
c.7518T>A (p.Asp2506Glu)
c.7464T>A (p.Asp2488Glu)
c.7434T>A (p.Asp2478Glu)
c.7389T>A (p.Asp2463Glu)
c.6984T>A (p.Asp2328Glu)
c.6342T>A (p.Asp2114Glu)
c.3852T>A (p.Asp1284Glu)
10g.71799596T>CCA470062211CDH23c.7329T>C (p.Asp2443=)
c.1262T>C (n.1262T>C)
c.926T>C (n.926T>C)
c.7344T>C (p.Asp2448=)
c.609T>C (p.Asp203=)
n.865T>C
c.7524T>C (p.Asp2508=)
c.7458T>C (p.Asp2486=)
c.7521T>C (p.Asp2507=)
c.7518T>C (p.Asp2506=)
c.7464T>C (p.Asp2488=)
c.7434T>C (p.Asp2478=)
c.7389T>C (p.Asp2463=)
c.6984T>C (p.Asp2328=)
c.6342T>C (p.Asp2114=)
c.3852T>C (p.Asp1284=)
10g.71799596T>GCA377159618CDH23c.7329T>G (p.Asp2443Glu)
c.1262T>G (n.1262T>G)
c.926T>G (n.926T>G)
c.7344T>G (p.Asp2448Glu)
c.609T>G (p.Asp203Glu)
n.865T>G
c.7524T>G (p.Asp2508Glu)
c.7458T>G (p.Asp2486Glu)
c.7521T>G (p.Asp2507Glu)
c.7518T>G (p.Asp2506Glu)
c.7464T>G (p.Asp2488Glu)
c.7434T>G (p.Asp2478Glu)
c.7389T>G (p.Asp2463Glu)
c.6984T>G (p.Asp2328Glu)
c.6342T>G (p.Asp2114Glu)
c.3852T>G (p.Asp1284Glu)
10g.71799597G>ACA377159621CDH23c.7330G>A (p.Gly2444Arg)
c.1263G>A (n.1263G>A)
c.927G>A (n.927G>A)
c.7345G>A (p.Gly2449Arg)
c.610G>A (p.Gly204Arg)
n.866G>A
c.7525G>A (p.Gly2509Arg)
c.7459G>A (p.Gly2487Arg)
c.7522G>A (p.Gly2508Arg)
c.7519G>A (p.Gly2507Arg)
c.7465G>A (p.Gly2489Arg)
c.7435G>A (p.Gly2479Arg)
c.7390G>A (p.Gly2464Arg)
c.6985G>A (p.Gly2329Arg)
c.6343G>A (p.Gly2115Arg)
c.3853G>A (p.Gly1285Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71799597G>CCA377159628CDH23c.7330G>C (p.Gly2444Arg)
c.1263G>C (n.1263G>C)
c.927G>C (n.927G>C)
c.7345G>C (p.Gly2449Arg)
c.610G>C (p.Gly204Arg)
n.866G>C
c.7525G>C (p.Gly2509Arg)
c.7459G>C (p.Gly2487Arg)
c.7522G>C (p.Gly2508Arg)
c.7519G>C (p.Gly2507Arg)
c.7465G>C (p.Gly2489Arg)
c.7435G>C (p.Gly2479Arg)
c.7390G>C (p.Gly2464Arg)
c.6985G>C (p.Gly2329Arg)
c.6343G>C (p.Gly2115Arg)
c.3853G>C (p.Gly1285Arg)
10g.71799597G=CA1918878938CDH23c.7330G= (p.Gly2444=)
c.1263G= (n.1263G=)
c.927G= (n.927G=)
c.7345G= (p.Gly2449=)
c.610G= (p.Gly204=)
n.866G=
c.7525G= (p.Gly2509=)
c.7459G= (p.Gly2487=)
c.7522G= (p.Gly2508=)
c.7519G= (p.Gly2507=)
c.7465G= (p.Gly2489=)
c.7435G= (p.Gly2479=)
c.7390G= (p.Gly2464=)
c.6985G= (p.Gly2329=)
c.6343G= (p.Gly2115=)
c.3853G= (p.Gly1285=)
10g.71799597G>TCA377159631CDH23c.7330G>T (p.Gly2444Ter)
c.1263G>T (n.1263G>T)
c.927G>T (n.927G>T)
c.7345G>T (p.Gly2449Ter)
c.610G>T (p.Gly204Ter)
n.866G>T
c.7525G>T (p.Gly2509Ter)
c.7459G>T (p.Gly2487Ter)
c.7522G>T (p.Gly2508Ter)
c.7519G>T (p.Gly2507Ter)
c.7465G>T (p.Gly2489Ter)
c.7435G>T (p.Gly2479Ter)
c.7390G>T (p.Gly2464Ter)
c.6985G>T (p.Gly2329Ter)
c.6343G>T (p.Gly2115Ter)
c.3853G>T (p.Gly1285Ter)
10g.71799598G>ACA377159635CDH23c.7331G>A (p.Gly2444Glu)
c.1264G>A (n.1264G>A)
c.928G>A (n.928G>A)
c.7346G>A (p.Gly2449Glu)
c.611G>A (p.Gly204Glu)
n.867G>A
c.7526G>A (p.Gly2509Glu)
c.7460G>A (p.Gly2487Glu)
c.7523G>A (p.Gly2508Glu)
c.7520G>A (p.Gly2507Glu)
c.7466G>A (p.Gly2489Glu)
c.7436G>A (p.Gly2479Glu)
c.7391G>A (p.Gly2464Glu)
c.6986G>A (p.Gly2329Glu)
c.6344G>A (p.Gly2115Glu)
c.3854G>A (p.Gly1285Glu)
10g.71799598G>CCA377159637CDH23c.7331G>C (p.Gly2444Ala)
c.1264G>C (n.1264G>C)
c.928G>C (n.928G>C)
c.7346G>C (p.Gly2449Ala)
c.611G>C (p.Gly204Ala)
n.867G>C
c.7526G>C (p.Gly2509Ala)
c.7460G>C (p.Gly2487Ala)
c.7523G>C (p.Gly2508Ala)
c.7520G>C (p.Gly2507Ala)
c.7466G>C (p.Gly2489Ala)
c.7436G>C (p.Gly2479Ala)
c.7391G>C (p.Gly2464Ala)
c.6986G>C (p.Gly2329Ala)
c.6344G>C (p.Gly2115Ala)
c.3854G>C (p.Gly1285Ala)
10g.71799598G>TCA377159640CDH23c.7331G>T (p.Gly2444Val)
c.1264G>T (n.1264G>T)
c.928G>T (n.928G>T)
c.7346G>T (p.Gly2449Val)
c.611G>T (p.Gly204Val)
n.867G>T
c.7526G>T (p.Gly2509Val)
c.7460G>T (p.Gly2487Val)
c.7523G>T (p.Gly2508Val)
c.7520G>T (p.Gly2507Val)
c.7466G>T (p.Gly2489Val)
c.7436G>T (p.Gly2479Val)
c.7391G>T (p.Gly2464Val)
c.6986G>T (p.Gly2329Val)
c.6344G>T (p.Gly2115Val)
c.3854G>T (p.Gly1285Val)
10g.71799599A>CCA470062212CDH23c.7332A>C (p.Gly2444=)
c.1265A>C (n.1265A>C)
c.929A>C (n.929A>C)
c.7347A>C (p.Gly2449=)
c.612A>C (p.Gly204=)
n.868A>C
c.7527A>C (p.Gly2509=)
c.7461A>C (p.Gly2487=)
c.7524A>C (p.Gly2508=)
c.7521A>C (p.Gly2507=)
c.7467A>C (p.Gly2489=)
c.7437A>C (p.Gly2479=)
c.7392A>C (p.Gly2464=)
c.6987A>C (p.Gly2329=)
c.6345A>C (p.Gly2115=)
c.3855A>C (p.Gly1285=)
10g.71799599A>GCA470062213CDH23c.7332A>G (p.Gly2444=)
c.1265A>G (n.1265A>G)
c.929A>G (n.929A>G)
c.7347A>G (p.Gly2449=)
c.612A>G (p.Gly204=)
n.868A>G
c.7527A>G (p.Gly2509=)
c.7461A>G (p.Gly2487=)
c.7524A>G (p.Gly2508=)
c.7521A>G (p.Gly2507=)
c.7467A>G (p.Gly2489=)
c.7437A>G (p.Gly2479=)
c.7392A>G (p.Gly2464=)
c.6987A>G (p.Gly2329=)
c.6345A>G (p.Gly2115=)
c.3855A>G (p.Gly1285=)
10g.71799599A>TCA470062214CDH23c.7332A>T (p.Gly2444=)
c.1265A>T (n.1265A>T)
c.929A>T (n.929A>T)
c.7347A>T (p.Gly2449=)
c.612A>T (p.Gly204=)
n.868A>T
c.7527A>T (p.Gly2509=)
c.7461A>T (p.Gly2487=)
c.7524A>T (p.Gly2508=)
c.7521A>T (p.Gly2507=)
c.7467A>T (p.Gly2489=)
c.7437A>T (p.Gly2479=)
c.7392A>T (p.Gly2464=)
c.6987A>T (p.Gly2329=)
c.6345A>T (p.Gly2115=)
c.3855A>T (p.Gly1285=)
10g.71799600G>ACA377159649CDH23c.7333G>A (p.Glu2445Lys)
c.1266G>A (n.1266G>A)
c.930G>A (n.930G>A)
c.7348G>A (p.Glu2450Lys)
c.613G>A (p.Glu205Lys)
n.869G>A
c.7528G>A (p.Glu2510Lys)
c.7462G>A (p.Glu2488Lys)
c.7525G>A (p.Glu2509Lys)
c.7522G>A (p.Glu2508Lys)
c.7468G>A (p.Glu2490Lys)
c.7438G>A (p.Glu2480Lys)
c.7393G>A (p.Glu2465Lys)
c.6988G>A (p.Glu2330Lys)
c.6346G>A (p.Glu2116Lys)
c.3856G>A (p.Glu1286Lys)
10g.71799600G>CCA377159647CDH23c.7333G>C (p.Glu2445Gln)
c.1266G>C (n.1266G>C)
c.930G>C (n.930G>C)
c.7348G>C (p.Glu2450Gln)
c.613G>C (p.Glu205Gln)
n.869G>C
c.7528G>C (p.Glu2510Gln)
c.7462G>C (p.Glu2488Gln)
c.7525G>C (p.Glu2509Gln)
c.7522G>C (p.Glu2508Gln)
c.7468G>C (p.Glu2490Gln)
c.7438G>C (p.Glu2480Gln)
c.7393G>C (p.Glu2465Gln)
c.6988G>C (p.Glu2330Gln)
c.6346G>C (p.Glu2116Gln)
c.3856G>C (p.Glu1286Gln)
10g.71799600G>TCA377159644CDH23c.7333G>T (p.Glu2445Ter)
c.1266G>T (n.1266G>T)
c.930G>T (n.930G>T)
c.7348G>T (p.Glu2450Ter)
c.613G>T (p.Glu205Ter)
n.869G>T
c.7528G>T (p.Glu2510Ter)
c.7462G>T (p.Glu2488Ter)
c.7525G>T (p.Glu2509Ter)
c.7522G>T (p.Glu2508Ter)
c.7468G>T (p.Glu2490Ter)
c.7438G>T (p.Glu2480Ter)
c.7393G>T (p.Glu2465Ter)
c.6988G>T (p.Glu2330Ter)
c.6346G>T (p.Glu2116Ter)
c.3856G>T (p.Glu1286Ter)
 gnomAD v4
10g.71799601A=CA1918878939CDH23c.7334A= (p.Glu2445=)
c.1267A= (n.1267A=)
c.931A= (n.931A=)
c.7349A= (p.Glu2450=)
c.614A= (p.Glu205=)
n.870A=
c.7529A= (p.Glu2510=)
c.7463A= (p.Glu2488=)
c.7526A= (p.Glu2509=)
c.7523A= (p.Glu2508=)
c.7469A= (p.Glu2490=)
c.7439A= (p.Glu2480=)
c.7394A= (p.Glu2465=)
c.6989A= (p.Glu2330=)
c.6347A= (p.Glu2116=)
c.3857A= (p.Glu1286=)
10g.71799601A>CCA377159652CDH23c.7334A>C (p.Glu2445Ala)
c.1267A>C (n.1267A>C)
c.931A>C (n.931A>C)
c.7349A>C (p.Glu2450Ala)
c.614A>C (p.Glu205Ala)
n.870A>C
c.7529A>C (p.Glu2510Ala)
c.7463A>C (p.Glu2488Ala)
c.7526A>C (p.Glu2509Ala)
c.7523A>C (p.Glu2508Ala)
c.7469A>C (p.Glu2490Ala)
c.7439A>C (p.Glu2480Ala)
c.7394A>C (p.Glu2465Ala)
c.6989A>C (p.Glu2330Ala)
c.6347A>C (p.Glu2116Ala)
c.3857A>C (p.Glu1286Ala)
10g.71799601A>GCA377159653CDH23c.7334A>G (p.Glu2445Gly)
c.1267A>G (n.1267A>G)
c.931A>G (n.931A>G)
c.7349A>G (p.Glu2450Gly)
c.614A>G (p.Glu205Gly)
n.870A>G
c.7529A>G (p.Glu2510Gly)
c.7463A>G (p.Glu2488Gly)
c.7526A>G (p.Glu2509Gly)
c.7523A>G (p.Glu2508Gly)
c.7469A>G (p.Glu2490Gly)
c.7439A>G (p.Glu2480Gly)
c.7394A>G (p.Glu2465Gly)
c.6989A>G (p.Glu2330Gly)
c.6347A>G (p.Glu2116Gly)
c.3857A>G (p.Glu1286Gly)
 dbSNP
10g.71799601A>TCA377159654CDH23c.7334A>T (p.Glu2445Val)
c.1267A>T (n.1267A>T)
c.931A>T (n.931A>T)
c.7349A>T (p.Glu2450Val)
c.614A>T (p.Glu205Val)
n.870A>T
c.7529A>T (p.Glu2510Val)
c.7463A>T (p.Glu2488Val)
c.7526A>T (p.Glu2509Val)
c.7523A>T (p.Glu2508Val)
c.7469A>T (p.Glu2490Val)
c.7439A>T (p.Glu2480Val)
c.7394A>T (p.Glu2465Val)
c.6989A>T (p.Glu2330Val)
c.6347A>T (p.Glu2116Val)
c.3857A>T (p.Glu1286Val)
10g.71799602G>ACA470062215CDH23c.7335G>A (p.Glu2445=)
c.1268G>A (n.1268G>A)
c.932G>A (n.932G>A)
c.7350G>A (p.Glu2450=)
c.615G>A (p.Glu205=)
n.871G>A
c.7530G>A (p.Glu2510=)
c.7464G>A (p.Glu2488=)
c.7527G>A (p.Glu2509=)
c.7524G>A (p.Glu2508=)
c.7470G>A (p.Glu2490=)
c.7440G>A (p.Glu2480=)
c.7395G>A (p.Glu2465=)
c.6990G>A (p.Glu2330=)
c.6348G>A (p.Glu2116=)
c.3858G>A (p.Glu1286=)
10g.71799602G>CCA377159657CDH23c.7335G>C (p.Glu2445Asp)
c.1268G>C (n.1268G>C)
c.932G>C (n.932G>C)
c.7350G>C (p.Glu2450Asp)
c.615G>C (p.Glu205Asp)
n.871G>C
c.7530G>C (p.Glu2510Asp)
c.7464G>C (p.Glu2488Asp)
c.7527G>C (p.Glu2509Asp)
c.7524G>C (p.Glu2508Asp)
c.7470G>C (p.Glu2490Asp)
c.7440G>C (p.Glu2480Asp)
c.7395G>C (p.Glu2465Asp)
c.6990G>C (p.Glu2330Asp)
c.6348G>C (p.Glu2116Asp)
c.3858G>C (p.Glu1286Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71799602G=CA1918878940CDH23c.7335G= (p.Glu2445=)
c.1268G= (n.1268G=)
c.932G= (n.932G=)
c.7350G= (p.Glu2450=)
c.615G= (p.Glu205=)
n.871G=
c.7530G= (p.Glu2510=)
c.7464G= (p.Glu2488=)
c.7527G= (p.Glu2509=)
c.7524G= (p.Glu2508=)
c.7470G= (p.Glu2490=)
c.7440G= (p.Glu2480=)
c.7395G= (p.Glu2465=)
c.6990G= (p.Glu2330=)
c.6348G= (p.Glu2116=)
c.3858G= (p.Glu1286=)
10g.71799602G>TCA377159658CDH23c.7335G>T (p.Glu2445Asp)
c.1268G>T (n.1268G>T)
c.932G>T (n.932G>T)
c.7350G>T (p.Glu2450Asp)
c.615G>T (p.Glu205Asp)
n.871G>T
c.7530G>T (p.Glu2510Asp)
c.7464G>T (p.Glu2488Asp)
c.7527G>T (p.Glu2509Asp)
c.7524G>T (p.Glu2508Asp)
c.7470G>T (p.Glu2490Asp)
c.7440G>T (p.Glu2480Asp)
c.7395G>T (p.Glu2465Asp)
c.6990G>T (p.Glu2330Asp)
c.6348G>T (p.Glu2116Asp)
c.3858G>T (p.Glu1286Asp)
10g.71799603A>CCA377159661CDH23c.7336A>C (p.Ser2446Arg)
c.1269A>C (n.1269A>C)
c.933A>C (n.933A>C)
c.7351A>C (p.Ser2451Arg)
c.616A>C (p.Ser206Arg)
n.872A>C
c.7531A>C (p.Ser2511Arg)
c.7465A>C (p.Ser2489Arg)
c.7528A>C (p.Ser2510Arg)
c.7525A>C (p.Ser2509Arg)
c.7471A>C (p.Ser2491Arg)
c.7441A>C (p.Ser2481Arg)
c.7396A>C (p.Ser2466Arg)
c.6991A>C (p.Ser2331Arg)
c.6349A>C (p.Ser2117Arg)
c.3859A>C (p.Ser1287Arg)
10g.71799603A>GCA377159663CDH23c.7336A>G (p.Ser2446Gly)
c.1269A>G (n.1269A>G)
c.933A>G (n.933A>G)
c.7351A>G (p.Ser2451Gly)
c.616A>G (p.Ser206Gly)
n.872A>G
c.7531A>G (p.Ser2511Gly)
c.7465A>G (p.Ser2489Gly)
c.7528A>G (p.Ser2510Gly)
c.7525A>G (p.Ser2509Gly)
c.7471A>G (p.Ser2491Gly)
c.7441A>G (p.Ser2481Gly)
c.7396A>G (p.Ser2466Gly)
c.6991A>G (p.Ser2331Gly)
c.6349A>G (p.Ser2117Gly)
c.3859A>G (p.Ser1287Gly)
10g.71799603A>TCA377159668CDH23c.7336A>T (p.Ser2446Cys)
c.1269A>T (n.1269A>T)
c.933A>T (n.933A>T)
c.7351A>T (p.Ser2451Cys)
c.616A>T (p.Ser206Cys)
n.872A>T
c.7531A>T (p.Ser2511Cys)
c.7465A>T (p.Ser2489Cys)
c.7528A>T (p.Ser2510Cys)
c.7525A>T (p.Ser2509Cys)
c.7471A>T (p.Ser2491Cys)
c.7441A>T (p.Ser2481Cys)
c.7396A>T (p.Ser2466Cys)
c.6991A>T (p.Ser2331Cys)
c.6349A>T (p.Ser2117Cys)
c.3859A>T (p.Ser1287Cys)
10g.71799604G>ACA377159670CDH23c.7337G>A (p.Ser2446Asn)
c.1270G>A (n.1270G>A)
c.934G>A (n.934G>A)
c.7352G>A (p.Ser2451Asn)
c.617G>A (p.Ser206Asn)
n.873G>A
c.7532G>A (p.Ser2511Asn)
c.7466G>A (p.Ser2489Asn)
c.7529G>A (p.Ser2510Asn)
c.7526G>A (p.Ser2509Asn)
c.7472G>A (p.Ser2491Asn)
c.7442G>A (p.Ser2481Asn)
c.7397G>A (p.Ser2466Asn)
c.6992G>A (p.Ser2331Asn)
c.6350G>A (p.Ser2117Asn)
c.3860G>A (p.Ser1287Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71799604G>CCA377159671CDH23c.7337G>C (p.Ser2446Thr)
c.1270G>C (n.1270G>C)
c.934G>C (n.934G>C)
c.7352G>C (p.Ser2451Thr)
c.617G>C (p.Ser206Thr)
n.873G>C
c.7532G>C (p.Ser2511Thr)
c.7466G>C (p.Ser2489Thr)
c.7529G>C (p.Ser2510Thr)
c.7526G>C (p.Ser2509Thr)
c.7472G>C (p.Ser2491Thr)
c.7442G>C (p.Ser2481Thr)
c.7397G>C (p.Ser2466Thr)
c.6992G>C (p.Ser2331Thr)
c.6350G>C (p.Ser2117Thr)
c.3860G>C (p.Ser1287Thr)
10g.71799604G=CA1918878941CDH23c.7337G= (p.Ser2446=)
c.1270G= (n.1270G=)
c.934G= (n.934G=)
c.7352G= (p.Ser2451=)
c.617G= (p.Ser206=)
n.873G=
c.7532G= (p.Ser2511=)
c.7466G= (p.Ser2489=)
c.7529G= (p.Ser2510=)
c.7526G= (p.Ser2509=)
c.7472G= (p.Ser2491=)
c.7442G= (p.Ser2481=)
c.7397G= (p.Ser2466=)
c.6992G= (p.Ser2331=)
c.6350G= (p.Ser2117=)
c.3860G= (p.Ser1287=)
10g.71799604G>TCA377159672CDH23c.7337G>T (p.Ser2446Ile)
c.1270G>T (n.1270G>T)
c.934G>T (n.934G>T)
c.7352G>T (p.Ser2451Ile)
c.617G>T (p.Ser206Ile)
n.873G>T
c.7532G>T (p.Ser2511Ile)
c.7466G>T (p.Ser2489Ile)
c.7529G>T (p.Ser2510Ile)
c.7526G>T (p.Ser2509Ile)
c.7472G>T (p.Ser2491Ile)
c.7442G>T (p.Ser2481Ile)
c.7397G>T (p.Ser2466Ile)
c.6992G>T (p.Ser2331Ile)
c.6350G>T (p.Ser2117Ile)
c.3860G>T (p.Ser1287Ile)
10g.71799605C>ACA377159673CDH23c.7338C>A (p.Ser2446Arg)
c.1271C>A (n.1271C>A)
c.935C>A (n.935C>A)
c.7353C>A (p.Ser2451Arg)
c.618C>A (p.Ser206Arg)
n.874C>A
c.7533C>A (p.Ser2511Arg)
c.7467C>A (p.Ser2489Arg)
c.7530C>A (p.Ser2510Arg)
c.7527C>A (p.Ser2509Arg)
c.7473C>A (p.Ser2491Arg)
c.7443C>A (p.Ser2481Arg)
c.7398C>A (p.Ser2466Arg)
c.6993C>A (p.Ser2331Arg)
c.6351C>A (p.Ser2117Arg)
c.3861C>A (p.Ser1287Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71799605C=CA1918878942CDH23c.7338C= (p.Ser2446=)
c.1271C= (n.1271C=)
c.935C= (n.935C=)
c.7353C= (p.Ser2451=)
c.618C= (p.Ser206=)
n.874C=
c.7533C= (p.Ser2511=)
c.7467C= (p.Ser2489=)
c.7530C= (p.Ser2510=)
c.7527C= (p.Ser2509=)
c.7473C= (p.Ser2491=)
c.7443C= (p.Ser2481=)
c.7398C= (p.Ser2466=)
c.6993C= (p.Ser2331=)
c.6351C= (p.Ser2117=)
c.3861C= (p.Ser1287=)
10g.71799605C>GCA377159674CDH23c.7338C>G (p.Ser2446Arg)
c.1271C>G (n.1271C>G)
c.935C>G (n.935C>G)
c.7353C>G (p.Ser2451Arg)
c.618C>G (p.Ser206Arg)
n.874C>G
c.7533C>G (p.Ser2511Arg)
c.7467C>G (p.Ser2489Arg)
c.7530C>G (p.Ser2510Arg)
c.7527C>G (p.Ser2509Arg)
c.7473C>G (p.Ser2491Arg)
c.7443C>G (p.Ser2481Arg)
c.7398C>G (p.Ser2466Arg)
c.6993C>G (p.Ser2331Arg)
c.6351C>G (p.Ser2117Arg)
c.3861C>G (p.Ser1287Arg)
10g.71799605C>TCA470062216CDH23c.7338C>T (p.Ser2446=)
c.1271C>T (n.1271C>T)
c.935C>T (n.935C>T)
c.7353C>T (p.Ser2451=)
c.618C>T (p.Ser206=)
n.874C>T
c.7533C>T (p.Ser2511=)
c.7467C>T (p.Ser2489=)
c.7530C>T (p.Ser2510=)
c.7527C>T (p.Ser2509=)
c.7473C>T (p.Ser2491=)
c.7443C>T (p.Ser2481=)
c.7398C>T (p.Ser2466=)
c.6993C>T (p.Ser2331=)
c.6351C>T (p.Ser2117=)
c.3861C>T (p.Ser1287=)
10g.71799606A>CCA377159675CDH23c.7339A>C (p.Lys2447Gln)
c.1272A>C (n.1272A>C)
c.936A>C (n.936A>C)
c.7354A>C (p.Lys2452Gln)
c.619A>C (p.Lys207Gln)
n.875A>C
c.7534A>C (p.Lys2512Gln)
c.7468A>C (p.Lys2490Gln)
c.7531A>C (p.Lys2511Gln)
c.7528A>C (p.Lys2510Gln)
c.7474A>C (p.Lys2492Gln)
c.7444A>C (p.Lys2482Gln)
c.7399A>C (p.Lys2467Gln)
c.6994A>C (p.Lys2332Gln)
c.6352A>C (p.Lys2118Gln)
c.3862A>C (p.Lys1288Gln)
10g.71799606A>GCA377159677CDH23c.7339A>G (p.Lys2447Glu)
c.1272A>G (n.1272A>G)
c.936A>G (n.936A>G)
c.7354A>G (p.Lys2452Glu)
c.619A>G (p.Lys207Glu)
n.875A>G
c.7534A>G (p.Lys2512Glu)
c.7468A>G (p.Lys2490Glu)
c.7531A>G (p.Lys2511Glu)
c.7528A>G (p.Lys2510Glu)
c.7474A>G (p.Lys2492Glu)
c.7444A>G (p.Lys2482Glu)
c.7399A>G (p.Lys2467Glu)
c.6994A>G (p.Lys2332Glu)
c.6352A>G (p.Lys2118Glu)
c.3862A>G (p.Lys1288Glu)
10g.71799606A>TCA377159676CDH23c.7339A>T (p.Lys2447Ter)
c.1272A>T (n.1272A>T)
c.936A>T (n.936A>T)
c.7354A>T (p.Lys2452Ter)
c.619A>T (p.Lys207Ter)
n.875A>T
c.7534A>T (p.Lys2512Ter)
c.7468A>T (p.Lys2490Ter)
c.7531A>T (p.Lys2511Ter)
c.7528A>T (p.Lys2510Ter)
c.7474A>T (p.Lys2492Ter)
c.7444A>T (p.Lys2482Ter)
c.7399A>T (p.Lys2467Ter)
c.6994A>T (p.Lys2332Ter)
c.6352A>T (p.Lys2118Ter)
c.3862A>T (p.Lys1288Ter)
10g.71799607A>CCA377159678CDH23c.7340A>C (p.Lys2447Thr)
c.1273A>C (n.1273A>C)
c.937A>C (n.937A>C)
c.7355A>C (p.Lys2452Thr)
c.620A>C (p.Lys207Thr)
n.876A>C
c.7535A>C (p.Lys2512Thr)
c.7469A>C (p.Lys2490Thr)
c.7532A>C (p.Lys2511Thr)
c.7529A>C (p.Lys2510Thr)
c.7475A>C (p.Lys2492Thr)
c.7445A>C (p.Lys2482Thr)
c.7400A>C (p.Lys2467Thr)
c.6995A>C (p.Lys2332Thr)
c.6353A>C (p.Lys2118Thr)
c.3863A>C (p.Lys1288Thr)
10g.71799607A>GCA377159679CDH23c.7340A>G (p.Lys2447Arg)
c.1273A>G (n.1273A>G)
c.937A>G (n.937A>G)
c.7355A>G (p.Lys2452Arg)
c.620A>G (p.Lys207Arg)
n.876A>G
c.7535A>G (p.Lys2512Arg)
c.7469A>G (p.Lys2490Arg)
c.7532A>G (p.Lys2511Arg)
c.7529A>G (p.Lys2510Arg)
c.7475A>G (p.Lys2492Arg)
c.7445A>G (p.Lys2482Arg)
c.7400A>G (p.Lys2467Arg)
c.6995A>G (p.Lys2332Arg)
c.6353A>G (p.Lys2118Arg)
c.3863A>G (p.Lys1288Arg)
 gnomAD v4 COSMIC
10g.71799607A>TCA377159680CDH23c.7340A>T (p.Lys2447Met)
c.1273A>T (n.1273A>T)
c.937A>T (n.937A>T)
c.7355A>T (p.Lys2452Met)
c.620A>T (p.Lys207Met)
n.876A>T
c.7535A>T (p.Lys2512Met)
c.7469A>T (p.Lys2490Met)
c.7532A>T (p.Lys2511Met)
c.7529A>T (p.Lys2510Met)
c.7475A>T (p.Lys2492Met)
c.7445A>T (p.Lys2482Met)
c.7400A>T (p.Lys2467Met)
c.6995A>T (p.Lys2332Met)
c.6353A>T (p.Lys2118Met)
c.3863A>T (p.Lys1288Met)
10g.71799608G>ACA470062217CDH23c.7341G>A (p.Lys2447=)
c.1274G>A (n.1274G>A)
c.938G>A (n.938G>A)
c.7356G>A (p.Lys2452=)
c.621G>A (p.Lys207=)
n.877G>A
c.7536G>A (p.Lys2512=)
c.7470G>A (p.Lys2490=)
c.7533G>A (p.Lys2511=)
c.7530G>A (p.Lys2510=)
c.7476G>A (p.Lys2492=)
c.7446G>A (p.Lys2482=)
c.7401G>A (p.Lys2467=)
c.6996G>A (p.Lys2332=)
c.6354G>A (p.Lys2118=)
c.3864G>A (p.Lys1288=)
10g.71799608G>CCA377159681CDH23c.7341G>C (p.Lys2447Asn)
c.1274G>C (n.1274G>C)
c.938G>C (n.938G>C)
c.7356G>C (p.Lys2452Asn)
c.621G>C (p.Lys207Asn)
n.877G>C
c.7536G>C (p.Lys2512Asn)
c.7470G>C (p.Lys2490Asn)
c.7533G>C (p.Lys2511Asn)
c.7530G>C (p.Lys2510Asn)
c.7476G>C (p.Lys2492Asn)
c.7446G>C (p.Lys2482Asn)
c.7401G>C (p.Lys2467Asn)
c.6996G>C (p.Lys2332Asn)
c.6354G>C (p.Lys2118Asn)
c.3864G>C (p.Lys1288Asn)
 gnomAD v4
10g.71799608G>TCA377159682CDH23c.7341G>T (p.Lys2447Asn)
c.1274G>T (n.1274G>T)
c.938G>T (n.938G>T)
c.7356G>T (p.Lys2452Asn)
c.621G>T (p.Lys207Asn)
n.877G>T
c.7536G>T (p.Lys2512Asn)
c.7470G>T (p.Lys2490Asn)
c.7533G>T (p.Lys2511Asn)
c.7530G>T (p.Lys2510Asn)
c.7476G>T (p.Lys2492Asn)
c.7446G>T (p.Lys2482Asn)
c.7401G>T (p.Lys2467Asn)
c.6996G>T (p.Lys2332Asn)
c.6354G>T (p.Lys2118Asn)
c.3864G>T (p.Lys1288Asn)
10g.71799609T>ACA377159683CDH23c.7342T>A (p.Phe2448Ile)
c.1275T>A (n.1275T>A)
c.939T>A (n.939T>A)
c.7357T>A (p.Phe2453Ile)
c.622T>A (p.Phe208Ile)
n.878T>A
c.7537T>A (p.Phe2513Ile)
c.7471T>A (p.Phe2491Ile)
c.7534T>A (p.Phe2512Ile)
c.7531T>A (p.Phe2511Ile)
c.7477T>A (p.Phe2493Ile)
c.7447T>A (p.Phe2483Ile)
c.7402T>A (p.Phe2468Ile)
c.6997T>A (p.Phe2333Ile)
c.6355T>A (p.Phe2119Ile)
c.3865T>A (p.Phe1289Ile)
 COSMIC
10g.71799609T>CCA377159684CDH23c.7342T>C (p.Phe2448Leu)
c.1275T>C (n.1275T>C)
c.939T>C (n.939T>C)
c.7357T>C (p.Phe2453Leu)
c.622T>C (p.Phe208Leu)
n.878T>C
c.7537T>C (p.Phe2513Leu)
c.7471T>C (p.Phe2491Leu)
c.7534T>C (p.Phe2512Leu)
c.7531T>C (p.Phe2511Leu)
c.7477T>C (p.Phe2493Leu)
c.7447T>C (p.Phe2483Leu)
c.7402T>C (p.Phe2468Leu)
c.6997T>C (p.Phe2333Leu)
c.6355T>C (p.Phe2119Leu)
c.3865T>C (p.Phe1289Leu)
10g.71799609T>GCA377159685CDH23c.7342T>G (p.Phe2448Val)
c.1275T>G (n.1275T>G)
c.939T>G (n.939T>G)
c.7357T>G (p.Phe2453Val)
c.622T>G (p.Phe208Val)
n.878T>G
c.7537T>G (p.Phe2513Val)
c.7471T>G (p.Phe2491Val)
c.7534T>G (p.Phe2512Val)
c.7531T>G (p.Phe2511Val)
c.7477T>G (p.Phe2493Val)
c.7447T>G (p.Phe2483Val)
c.7402T>G (p.Phe2468Val)
c.6997T>G (p.Phe2333Val)
c.6355T>G (p.Phe2119Val)
c.3865T>G (p.Phe1289Val)
10g.71799610T>ACA377159686CDH23c.7343T>A (p.Phe2448Tyr)
c.1276T>A (n.1276T>A)
c.940T>A (n.940T>A)
c.7358T>A (p.Phe2453Tyr)
c.623T>A (p.Phe208Tyr)
n.879T>A
c.7538T>A (p.Phe2513Tyr)
c.7472T>A (p.Phe2491Tyr)
c.7535T>A (p.Phe2512Tyr)
c.7532T>A (p.Phe2511Tyr)
c.7478T>A (p.Phe2493Tyr)
c.7448T>A (p.Phe2483Tyr)
c.7403T>A (p.Phe2468Tyr)
c.6998T>A (p.Phe2333Tyr)
c.6356T>A (p.Phe2119Tyr)
c.3866T>A (p.Phe1289Tyr)
10g.71799610T>CCA377159687CDH23c.7343T>C (p.Phe2448Ser)
c.1276T>C (n.1276T>C)
c.940T>C (n.940T>C)
c.7358T>C (p.Phe2453Ser)
c.623T>C (p.Phe208Ser)
n.879T>C
c.7538T>C (p.Phe2513Ser)
c.7472T>C (p.Phe2491Ser)
c.7535T>C (p.Phe2512Ser)
c.7532T>C (p.Phe2511Ser)
c.7478T>C (p.Phe2493Ser)
c.7448T>C (p.Phe2483Ser)
c.7403T>C (p.Phe2468Ser)
c.6998T>C (p.Phe2333Ser)
c.6356T>C (p.Phe2119Ser)
c.3866T>C (p.Phe1289Ser)
 gnomAD v4
10g.71799610T>GCA377159688CDH23c.7343T>G (p.Phe2448Cys)
c.1276T>G (n.1276T>G)
c.940T>G (n.940T>G)
c.7358T>G (p.Phe2453Cys)
c.623T>G (p.Phe208Cys)
n.879T>G
c.7538T>G (p.Phe2513Cys)
c.7472T>G (p.Phe2491Cys)
c.7535T>G (p.Phe2512Cys)
c.7532T>G (p.Phe2511Cys)
c.7478T>G (p.Phe2493Cys)
c.7448T>G (p.Phe2483Cys)
c.7403T>G (p.Phe2468Cys)
c.6998T>G (p.Phe2333Cys)
c.6356T>G (p.Phe2119Cys)
c.3866T>G (p.Phe1289Cys)
10g.71799611T>ACA377159690CDH23c.7344T>A (p.Phe2448Leu)
c.1277T>A (n.1277T>A)
c.941T>A (n.941T>A)
c.7359T>A (p.Phe2453Leu)
c.624T>A (p.Phe208Leu)
n.880T>A
c.7539T>A (p.Phe2513Leu)
c.7473T>A (p.Phe2491Leu)
c.7536T>A (p.Phe2512Leu)
c.7533T>A (p.Phe2511Leu)
c.7479T>A (p.Phe2493Leu)
c.7449T>A (p.Phe2483Leu)
c.7404T>A (p.Phe2468Leu)
c.6999T>A (p.Phe2333Leu)
c.6357T>A (p.Phe2119Leu)
c.3867T>A (p.Phe1289Leu)
10g.71799611T>CCA470062218CDH23c.7344T>C (p.Phe2448=)
c.1277T>C (n.1277T>C)
c.941T>C (n.941T>C)
c.7359T>C (p.Phe2453=)
c.624T>C (p.Phe208=)
n.880T>C
c.7539T>C (p.Phe2513=)
c.7473T>C (p.Phe2491=)
c.7536T>C (p.Phe2512=)
c.7533T>C (p.Phe2511=)
c.7479T>C (p.Phe2493=)
c.7449T>C (p.Phe2483=)
c.7404T>C (p.Phe2468=)
c.6999T>C (p.Phe2333=)
c.6357T>C (p.Phe2119=)
c.3867T>C (p.Phe1289=)
10g.71799611T>GCA377159689CDH23c.7344T>G (p.Phe2448Leu)
c.1277T>G (n.1277T>G)
c.941T>G (n.941T>G)
c.7359T>G (p.Phe2453Leu)
c.624T>G (p.Phe208Leu)
n.880T>G
c.7539T>G (p.Phe2513Leu)
c.7473T>G (p.Phe2491Leu)
c.7536T>G (p.Phe2512Leu)
c.7533T>G (p.Phe2511Leu)
c.7479T>G (p.Phe2493Leu)
c.7449T>G (p.Phe2483Leu)
c.7404T>G (p.Phe2468Leu)
c.6999T>G (p.Phe2333Leu)
c.6357T>G (p.Phe2119Leu)
c.3867T>G (p.Phe1289Leu)
10g.71799612G>ACA377159691CDH23c.7345G>A (p.Ala2449Thr)
c.1278G>A (n.1278G>A)
c.942G>A (n.942G>A)
c.7360G>A (p.Ala2454Thr)
c.625G>A (p.Ala209Thr)
n.881G>A
c.7540G>A (p.Ala2514Thr)
c.7474G>A (p.Ala2492Thr)
c.7537G>A (p.Ala2513Thr)
c.7534G>A (p.Ala2512Thr)
c.7480G>A (p.Ala2494Thr)
c.7450G>A (p.Ala2484Thr)
c.7405G>A (p.Ala2469Thr)
c.7000G>A (p.Ala2334Thr)
c.6358G>A (p.Ala2120Thr)
c.3868G>A (p.Ala1290Thr)
 ClinVar dbSNP
10g.71799612G>CCA377159693CDH23c.7345G>C (p.Ala2449Pro)
c.1278G>C (n.1278G>C)
c.942G>C (n.942G>C)
c.7360G>C (p.Ala2454Pro)
c.625G>C (p.Ala209Pro)
n.881G>C
c.7540G>C (p.Ala2514Pro)
c.7474G>C (p.Ala2492Pro)
c.7537G>C (p.Ala2513Pro)
c.7534G>C (p.Ala2512Pro)
c.7480G>C (p.Ala2494Pro)
c.7450G>C (p.Ala2484Pro)
c.7405G>C (p.Ala2469Pro)
c.7000G>C (p.Ala2334Pro)
c.6358G>C (p.Ala2120Pro)
c.3868G>C (p.Ala1290Pro)
10g.71799612G=CA1918878943CDH23c.7345G= (p.Ala2449=)
c.1278G= (n.1278G=)
c.942G= (n.942G=)
c.7360G= (p.Ala2454=)
c.625G= (p.Ala209=)
n.881G=
c.7540G= (p.Ala2514=)
c.7474G= (p.Ala2492=)
c.7537G= (p.Ala2513=)
c.7534G= (p.Ala2512=)
c.7480G= (p.Ala2494=)
c.7450G= (p.Ala2484=)
c.7405G= (p.Ala2469=)
c.7000G= (p.Ala2334=)
c.6358G= (p.Ala2120=)
c.3868G= (p.Ala1290=)
10g.71799612G>TCA377159692CDH23c.7345G>T (p.Ala2449Ser)
c.1278G>T (n.1278G>T)
c.942G>T (n.942G>T)
c.7360G>T (p.Ala2454Ser)
c.625G>T (p.Ala209Ser)
n.881G>T
c.7540G>T (p.Ala2514Ser)
c.7474G>T (p.Ala2492Ser)
c.7537G>T (p.Ala2513Ser)
c.7534G>T (p.Ala2512Ser)
c.7480G>T (p.Ala2494Ser)
c.7450G>T (p.Ala2484Ser)
c.7405G>T (p.Ala2469Ser)
c.7000G>T (p.Ala2334Ser)
c.6358G>T (p.Ala2120Ser)
c.3868G>T (p.Ala1290Ser)
10g.71799613C>ACA377159694CDH23c.7346C>A (p.Ala2449Asp)
c.1279C>A (n.1279C>A)
c.943C>A (n.943C>A)
c.7361C>A (p.Ala2454Asp)
c.626C>A (p.Ala209Asp)
n.882C>A
c.7541C>A (p.Ala2514Asp)
c.7475C>A (p.Ala2492Asp)
c.7538C>A (p.Ala2513Asp)
c.7535C>A (p.Ala2512Asp)
c.7481C>A (p.Ala2494Asp)
c.7451C>A (p.Ala2484Asp)
c.7406C>A (p.Ala2469Asp)
c.7001C>A (p.Ala2334Asp)
c.6359C>A (p.Ala2120Asp)
c.3869C>A (p.Ala1290Asp)
10g.71799613C>GCA377159695CDH23c.7346C>G (p.Ala2449Gly)
c.1279C>G (n.1279C>G)
c.943C>G (n.943C>G)
c.7361C>G (p.Ala2454Gly)
c.626C>G (p.Ala209Gly)
n.882C>G
c.7541C>G (p.Ala2514Gly)
c.7475C>G (p.Ala2492Gly)
c.7538C>G (p.Ala2513Gly)
c.7535C>G (p.Ala2512Gly)
c.7481C>G (p.Ala2494Gly)
c.7451C>G (p.Ala2484Gly)
c.7406C>G (p.Ala2469Gly)
c.7001C>G (p.Ala2334Gly)
c.6359C>G (p.Ala2120Gly)
c.3869C>G (p.Ala1290Gly)
10g.71799613C>TCA377159696CDH23c.7346C>T (p.Ala2449Val)
c.1279C>T (n.1279C>T)
c.943C>T (n.943C>T)
c.7361C>T (p.Ala2454Val)
c.626C>T (p.Ala209Val)
n.882C>T
c.7541C>T (p.Ala2514Val)
c.7475C>T (p.Ala2492Val)
c.7538C>T (p.Ala2513Val)
c.7535C>T (p.Ala2512Val)
c.7481C>T (p.Ala2494Val)
c.7451C>T (p.Ala2484Val)
c.7406C>T (p.Ala2469Val)
c.7001C>T (p.Ala2334Val)
c.6359C>T (p.Ala2120Val)
c.3869C>T (p.Ala1290Val)
10g.71799614C>ACA470062219CDH23c.7347C>A (p.Ala2449=)
c.1280C>A (n.1280C>A)
c.944C>A (n.944C>A)
c.7362C>A (p.Ala2454=)
c.627C>A (p.Ala209=)
n.883C>A
c.7542C>A (p.Ala2514=)
c.7476C>A (p.Ala2492=)
c.7539C>A (p.Ala2513=)
c.7536C>A (p.Ala2512=)
c.7482C>A (p.Ala2494=)
c.7452C>A (p.Ala2484=)
c.7407C>A (p.Ala2469=)
c.7002C>A (p.Ala2334=)
c.6360C>A (p.Ala2120=)
c.3870C>A (p.Ala1290=)
10g.71799614C>GCA470062221CDH23c.7347C>G (p.Ala2449=)
c.1280C>G (n.1280C>G)
c.944C>G (n.944C>G)
c.7362C>G (p.Ala2454=)
c.627C>G (p.Ala209=)
n.883C>G
c.7542C>G (p.Ala2514=)
c.7476C>G (p.Ala2492=)
c.7539C>G (p.Ala2513=)
c.7536C>G (p.Ala2512=)
c.7482C>G (p.Ala2494=)
c.7452C>G (p.Ala2484=)
c.7407C>G (p.Ala2469=)
c.7002C>G (p.Ala2334=)
c.6360C>G (p.Ala2120=)
c.3870C>G (p.Ala1290=)
10g.71799614C>TCA470062220CDH23c.7347C>T (p.Ala2449=)
c.1280C>T (n.1280C>T)
c.944C>T (n.944C>T)
c.7362C>T (p.Ala2454=)
c.627C>T (p.Ala209=)
n.883C>T
c.7542C>T (p.Ala2514=)
c.7476C>T (p.Ala2492=)
c.7539C>T (p.Ala2513=)
c.7536C>T (p.Ala2512=)
c.7482C>T (p.Ala2494=)
c.7452C>T (p.Ala2484=)
c.7407C>T (p.Ala2469=)
c.7002C>T (p.Ala2334=)
c.6360C>T (p.Ala2120=)
c.3870C>T (p.Ala1290=)
 gnomAD v4
10g.71799615A>CCA377159697CDH23c.7348A>C (p.Ile2450Leu)
c.1281A>C (n.1281A>C)
c.945A>C (n.945A>C)
c.7363A>C (p.Ile2455Leu)
c.628A>C (p.Ile210Leu)
n.884A>C
c.7543A>C (p.Ile2515Leu)
c.7477A>C (p.Ile2493Leu)
c.7540A>C (p.Ile2514Leu)
c.7537A>C (p.Ile2513Leu)
c.7483A>C (p.Ile2495Leu)
c.7453A>C (p.Ile2485Leu)
c.7408A>C (p.Ile2470Leu)
c.7003A>C (p.Ile2335Leu)
c.6361A>C (p.Ile2121Leu)
c.3871A>C (p.Ile1291Leu)
10g.71799615A>GCA377159698CDH23c.7348A>G (p.Ile2450Val)
c.1281A>G (n.1281A>G)
c.945A>G (n.945A>G)
c.7363A>G (p.Ile2455Val)
c.628A>G (p.Ile210Val)
n.884A>G
c.7543A>G (p.Ile2515Val)
c.7477A>G (p.Ile2493Val)
c.7540A>G (p.Ile2514Val)
c.7537A>G (p.Ile2513Val)
c.7483A>G (p.Ile2495Val)
c.7453A>G (p.Ile2485Val)
c.7408A>G (p.Ile2470Val)
c.7003A>G (p.Ile2335Val)
c.6361A>G (p.Ile2121Val)
c.3871A>G (p.Ile1291Val)
10g.71799615A>TCA377159699CDH23c.7348A>T (p.Ile2450Phe)
c.1281A>T (n.1281A>T)
c.945A>T (n.945A>T)
c.7363A>T (p.Ile2455Phe)
c.628A>T (p.Ile210Phe)
n.884A>T
c.7543A>T (p.Ile2515Phe)
c.7477A>T (p.Ile2493Phe)
c.7540A>T (p.Ile2514Phe)
c.7537A>T (p.Ile2513Phe)
c.7483A>T (p.Ile2495Phe)
c.7453A>T (p.Ile2485Phe)
c.7408A>T (p.Ile2470Phe)
c.7003A>T (p.Ile2335Phe)
c.6361A>T (p.Ile2121Phe)
c.3871A>T (p.Ile1291Phe)
10g.71799616T>ACA5546307CDH23c.7349T>A (p.Ile2450Asn)
c.1282T>A (n.1282T>A)
c.946T>A (n.946T>A)
c.7364T>A (p.Ile2455Asn)
c.629T>A (p.Ile210Asn)
n.885T>A
c.7544T>A (p.Ile2515Asn)
c.7478T>A (p.Ile2493Asn)
c.7541T>A (p.Ile2514Asn)
c.7538T>A (p.Ile2513Asn)
c.7484T>A (p.Ile2495Asn)
c.7454T>A (p.Ile2485Asn)
c.7409T>A (p.Ile2470Asn)
c.7004T>A (p.Ile2335Asn)
c.6362T>A (p.Ile2121Asn)
c.3872T>A (p.Ile1291Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71799616T>CCA377159700CDH23c.7349T>C (p.Ile2450Thr)
c.1282T>C (n.1282T>C)
c.946T>C (n.946T>C)
c.7364T>C (p.Ile2455Thr)
c.629T>C (p.Ile210Thr)
n.885T>C
c.7544T>C (p.Ile2515Thr)
c.7478T>C (p.Ile2493Thr)
c.7541T>C (p.Ile2514Thr)
c.7538T>C (p.Ile2513Thr)
c.7484T>C (p.Ile2495Thr)
c.7454T>C (p.Ile2485Thr)
c.7409T>C (p.Ile2470Thr)
c.7004T>C (p.Ile2335Thr)
c.6362T>C (p.Ile2121Thr)
c.3872T>C (p.Ile1291Thr)
 dbSNP gnomAD v3 gnomAD v4
10g.71799616T>GCA377159701CDH23c.7349T>G (p.Ile2450Ser)
c.1282T>G (n.1282T>G)
c.946T>G (n.946T>G)
c.7364T>G (p.Ile2455Ser)
c.629T>G (p.Ile210Ser)
n.885T>G
c.7544T>G (p.Ile2515Ser)
c.7478T>G (p.Ile2493Ser)
c.7541T>G (p.Ile2514Ser)
c.7538T>G (p.Ile2513Ser)
c.7484T>G (p.Ile2495Ser)
c.7454T>G (p.Ile2485Ser)
c.7409T>G (p.Ile2470Ser)
c.7004T>G (p.Ile2335Ser)
c.6362T>G (p.Ile2121Ser)
c.3872T>G (p.Ile1291Ser)
10g.71799616T=CA1918878944CDH23c.7349T= (p.Ile2450=)
c.1282T= (n.1282T=)
c.946T= (n.946T=)
c.7364T= (p.Ile2455=)
c.629T= (p.Ile210=)
n.885T=
c.7544T= (p.Ile2515=)
c.7478T= (p.Ile2493=)
c.7541T= (p.Ile2514=)
c.7538T= (p.Ile2513=)
c.7484T= (p.Ile2495=)
c.7454T= (p.Ile2485=)
c.7409T= (p.Ile2470=)
c.7004T= (p.Ile2335=)
c.6362T= (p.Ile2121=)
c.3872T= (p.Ile1291=)
10g.71799617C>ACA470062222CDH23c.7350C>A (p.Ile2450=)
c.1283C>A (n.1283C>A)
c.947C>A (n.947C>A)
c.7365C>A (p.Ile2455=)
c.630C>A (p.Ile210=)
n.886C>A
c.7545C>A (p.Ile2515=)
c.7479C>A (p.Ile2493=)
c.7542C>A (p.Ile2514=)
c.7539C>A (p.Ile2513=)
c.7485C>A (p.Ile2495=)
c.7455C>A (p.Ile2485=)
c.7410C>A (p.Ile2470=)
c.7005C>A (p.Ile2335=)
c.6363C>A (p.Ile2121=)
c.3873C>A (p.Ile1291=)
10g.71799617C>GCA377159702CDH23c.7350C>G (p.Ile2450Met)
c.1283C>G (n.1283C>G)
c.947C>G (n.947C>G)
c.7365C>G (p.Ile2455Met)
c.630C>G (p.Ile210Met)
n.886C>G
c.7545C>G (p.Ile2515Met)
c.7479C>G (p.Ile2493Met)
c.7542C>G (p.Ile2514Met)
c.7539C>G (p.Ile2513Met)
c.7485C>G (p.Ile2495Met)
c.7455C>G (p.Ile2485Met)
c.7410C>G (p.Ile2470Met)
c.7005C>G (p.Ile2335Met)
c.6363C>G (p.Ile2121Met)
c.3873C>G (p.Ile1291Met)
10g.71799617C>TCA470062223CDH23c.7350C>T (p.Ile2450=)
c.1283C>T (n.1283C>T)
c.947C>T (n.947C>T)
c.7365C>T (p.Ile2455=)
c.630C>T (p.Ile210=)
n.886C>T
c.7545C>T (p.Ile2515=)
c.7479C>T (p.Ile2493=)
c.7542C>T (p.Ile2514=)
c.7539C>T (p.Ile2513=)
c.7485C>T (p.Ile2495=)
c.7455C>T (p.Ile2485=)
c.7410C>T (p.Ile2470=)
c.7005C>T (p.Ile2335=)
c.6363C>T (p.Ile2121=)
c.3873C>T (p.Ile1291=)
10g.71799618A>CCA377159703CDH23c.7351A>C (p.Asn2451His)
c.1284A>C (n.1284A>C)
c.948A>C (n.948A>C)
c.7366A>C (p.Asn2456His)
c.631A>C (p.Asn211His)
n.887A>C
c.7546A>C (p.Asn2516His)
c.7480A>C (p.Asn2494His)
c.7543A>C (p.Asn2515His)
c.7540A>C (p.Asn2514His)
c.7486A>C (p.Asn2496His)
c.7456A>C (p.Asn2486His)
c.7411A>C (p.Asn2471His)
c.7006A>C (p.Asn2336His)
c.6364A>C (p.Asn2122His)
c.3874A>C (p.Asn1292His)
10g.71799618A>GCA377159704CDH23c.7351A>G (p.Asn2451Asp)
c.1284A>G (n.1284A>G)
c.948A>G (n.948A>G)
c.7366A>G (p.Asn2456Asp)
c.631A>G (p.Asn211Asp)
n.887A>G
c.7546A>G (p.Asn2516Asp)
c.7480A>G (p.Asn2494Asp)
c.7543A>G (p.Asn2515Asp)
c.7540A>G (p.Asn2514Asp)
c.7486A>G (p.Asn2496Asp)
c.7456A>G (p.Asn2486Asp)
c.7411A>G (p.Asn2471Asp)
c.7006A>G (p.Asn2336Asp)
c.6364A>G (p.Asn2122Asp)
c.3874A>G (p.Asn1292Asp)
10g.71799618A>TCA377159705CDH23c.7351A>T (p.Asn2451Tyr)
c.1284A>T (n.1284A>T)
c.948A>T (n.948A>T)
c.7366A>T (p.Asn2456Tyr)
c.631A>T (p.Asn211Tyr)
n.887A>T
c.7546A>T (p.Asn2516Tyr)
c.7480A>T (p.Asn2494Tyr)
c.7543A>T (p.Asn2515Tyr)
c.7540A>T (p.Asn2514Tyr)
c.7486A>T (p.Asn2496Tyr)
c.7456A>T (p.Asn2486Tyr)
c.7411A>T (p.Asn2471Tyr)
c.7006A>T (p.Asn2336Tyr)
c.6364A>T (p.Asn2122Tyr)
c.3874A>T (p.Asn1292Tyr)
10g.71799619A=CA1918878945CDH23c.7352A= (p.Asn2451=)
c.1285A= (n.1285A=)
c.949A= (n.949A=)
c.7367A= (p.Asn2456=)
c.632A= (p.Asn211=)
n.888A=
c.7547A= (p.Asn2516=)
c.7481A= (p.Asn2494=)
c.7544A= (p.Asn2515=)
c.7541A= (p.Asn2514=)
c.7487A= (p.Asn2496=)
c.7457A= (p.Asn2486=)
c.7412A= (p.Asn2471=)
c.7007A= (p.Asn2336=)
c.6365A= (p.Asn2122=)
c.3875A= (p.Asn1292=)
10g.71799619A>CCA377159708CDH23c.7352A>C (p.Asn2451Thr)
c.1285A>C (n.1285A>C)
c.949A>C (n.949A>C)
c.7367A>C (p.Asn2456Thr)
c.632A>C (p.Asn211Thr)
n.888A>C
c.7547A>C (p.Asn2516Thr)
c.7481A>C (p.Asn2494Thr)
c.7544A>C (p.Asn2515Thr)
c.7541A>C (p.Asn2514Thr)
c.7487A>C (p.Asn2496Thr)
c.7457A>C (p.Asn2486Thr)
c.7412A>C (p.Asn2471Thr)
c.7007A>C (p.Asn2336Thr)
c.6365A>C (p.Asn2122Thr)
c.3875A>C (p.Asn1292Thr)
10g.71799619A>GCA377159707CDH23c.7352A>G (p.Asn2451Ser)
c.1285A>G (n.1285A>G)
c.949A>G (n.949A>G)
c.7367A>G (p.Asn2456Ser)
c.632A>G (p.Asn211Ser)
n.888A>G
c.7547A>G (p.Asn2516Ser)
c.7481A>G (p.Asn2494Ser)
c.7544A>G (p.Asn2515Ser)
c.7541A>G (p.Asn2514Ser)
c.7487A>G (p.Asn2496Ser)
c.7457A>G (p.Asn2486Ser)
c.7412A>G (p.Asn2471Ser)
c.7007A>G (p.Asn2336Ser)
c.6365A>G (p.Asn2122Ser)
c.3875A>G (p.Asn1292Ser)
 dbSNP gnomAD v4
10g.71799619A>TCA377159706CDH23c.7352A>T (p.Asn2451Ile)
c.1285A>T (n.1285A>T)
c.949A>T (n.949A>T)
c.7367A>T (p.Asn2456Ile)
c.632A>T (p.Asn211Ile)
n.888A>T
c.7547A>T (p.Asn2516Ile)
c.7481A>T (p.Asn2494Ile)
c.7544A>T (p.Asn2515Ile)
c.7541A>T (p.Asn2514Ile)
c.7487A>T (p.Asn2496Ile)
c.7457A>T (p.Asn2486Ile)
c.7412A>T (p.Asn2471Ile)
c.7007A>T (p.Asn2336Ile)
c.6365A>T (p.Asn2122Ile)
c.3875A>T (p.Asn1292Ile)
10g.71799620C>ACA377159709CDH23c.7353C>A (p.Asn2451Lys)
c.1286C>A (n.1286C>A)
c.950C>A (n.950C>A)
c.7368C>A (p.Asn2456Lys)
c.633C>A (p.Asn211Lys)
n.889C>A
c.7548C>A (p.Asn2516Lys)
c.7482C>A (p.Asn2494Lys)
c.7545C>A (p.Asn2515Lys)
c.7542C>A (p.Asn2514Lys)
c.7488C>A (p.Asn2496Lys)
c.7458C>A (p.Asn2486Lys)
c.7413C>A (p.Asn2471Lys)
c.7008C>A (p.Asn2336Lys)
c.6366C>A (p.Asn2122Lys)
c.3876C>A (p.Asn1292Lys)
10g.71799620C=CA1918878946CDH23c.7353C= (p.Asn2451=)
c.1286C= (n.1286C=)
c.950C= (n.950C=)
c.7368C= (p.Asn2456=)
c.633C= (p.Asn211=)
n.889C=
c.7548C= (p.Asn2516=)
c.7482C= (p.Asn2494=)
c.7545C= (p.Asn2515=)
c.7542C= (p.Asn2514=)
c.7488C= (p.Asn2496=)
c.7458C= (p.Asn2486=)
c.7413C= (p.Asn2471=)
c.7008C= (p.Asn2336=)
c.6366C= (p.Asn2122=)
c.3876C= (p.Asn1292=)
10g.71799620C>GCA377159710CDH23c.7353C>G (p.Asn2451Lys)
c.1286C>G (n.1286C>G)
c.950C>G (n.950C>G)
c.7368C>G (p.Asn2456Lys)
c.633C>G (p.Asn211Lys)
n.889C>G
c.7548C>G (p.Asn2516Lys)
c.7482C>G (p.Asn2494Lys)
c.7545C>G (p.Asn2515Lys)
c.7542C>G (p.Asn2514Lys)
c.7488C>G (p.Asn2496Lys)
c.7458C>G (p.Asn2486Lys)
c.7413C>G (p.Asn2471Lys)
c.7008C>G (p.Asn2336Lys)
c.6366C>G (p.Asn2122Lys)
c.3876C>G (p.Asn1292Lys)
10g.71799620C>TCA5546308CDH23c.7353C>T (p.Asn2451=)
c.1286C>T (n.1286C>T)
c.950C>T (n.950C>T)
c.7368C>T (p.Asn2456=)
c.633C>T (p.Asn211=)
n.889C>T
c.7548C>T (p.Asn2516=)
c.7482C>T (p.Asn2494=)
c.7545C>T (p.Asn2515=)
c.7542C>T (p.Asn2514=)
c.7488C>T (p.Asn2496=)
c.7458C>T (p.Asn2486=)
c.7413C>T (p.Asn2471=)
c.7008C>T (p.Asn2336=)
c.6366C>T (p.Asn2122=)
c.3876C>T (p.Asn1292=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71799621C>ACA377159711CDH23c.7354C>A (p.Pro2452Thr)
c.1287C>A (n.1287C>A)
c.951C>A (n.951C>A)
c.7369C>A (p.Pro2457Thr)
c.634C>A (p.Pro212Thr)
n.890C>A
c.7549C>A (p.Pro2517Thr)
c.7483C>A (p.Pro2495Thr)
c.7546C>A (p.Pro2516Thr)
c.7543C>A (p.Pro2515Thr)
c.7489C>A (p.Pro2497Thr)
c.7459C>A (p.Pro2487Thr)
c.7414C>A (p.Pro2472Thr)
c.7009C>A (p.Pro2337Thr)
c.6367C>A (p.Pro2123Thr)
c.3877C>A (p.Pro1293Thr)
10g.71799621C>GCA377159712CDH23c.7354C>G (p.Pro2452Ala)
c.1287C>G (n.1287C>G)
c.951C>G (n.951C>G)
c.7369C>G (p.Pro2457Ala)
c.634C>G (p.Pro212Ala)
n.890C>G
c.7549C>G (p.Pro2517Ala)
c.7483C>G (p.Pro2495Ala)
c.7546C>G (p.Pro2516Ala)
c.7543C>G (p.Pro2515Ala)
c.7489C>G (p.Pro2497Ala)
c.7459C>G (p.Pro2487Ala)
c.7414C>G (p.Pro2472Ala)
c.7009C>G (p.Pro2337Ala)
c.6367C>G (p.Pro2123Ala)
c.3877C>G (p.Pro1293Ala)
10g.71799621C>TCA377159713CDH23c.7354C>T (p.Pro2452Ser)
c.1287C>T (n.1287C>T)
c.951C>T (n.951C>T)
c.7369C>T (p.Pro2457Ser)
c.634C>T (p.Pro212Ser)
n.890C>T
c.7549C>T (p.Pro2517Ser)
c.7483C>T (p.Pro2495Ser)
c.7546C>T (p.Pro2516Ser)
c.7543C>T (p.Pro2515Ser)
c.7489C>T (p.Pro2497Ser)
c.7459C>T (p.Pro2487Ser)
c.7414C>T (p.Pro2472Ser)
c.7009C>T (p.Pro2337Ser)
c.6367C>T (p.Pro2123Ser)
c.3877C>T (p.Pro1293Ser)
10g.71799622C>ACA377159714CDH23c.7355C>A (p.Pro2452His)
c.1288C>A (n.1288C>A)
c.952C>A (n.952C>A)
c.7370C>A (p.Pro2457His)
c.635C>A (p.Pro212His)
n.891C>A
c.7550C>A (p.Pro2517His)
c.7484C>A (p.Pro2495His)
c.7547C>A (p.Pro2516His)
c.7544C>A (p.Pro2515His)
c.7490C>A (p.Pro2497His)
c.7460C>A (p.Pro2487His)
c.7415C>A (p.Pro2472His)
c.7010C>A (p.Pro2337His)
c.6368C>A (p.Pro2123His)
c.3878C>A (p.Pro1293His)
10g.71799622C=CA1918878947CDH23c.7355C= (p.Pro2452=)
c.1288C= (n.1288C=)
c.952C= (n.952C=)
c.7370C= (p.Pro2457=)
c.635C= (p.Pro212=)
n.891C=
c.7550C= (p.Pro2517=)
c.7484C= (p.Pro2495=)
c.7547C= (p.Pro2516=)
c.7544C= (p.Pro2515=)
c.7490C= (p.Pro2497=)
c.7460C= (p.Pro2487=)
c.7415C= (p.Pro2472=)
c.7010C= (p.Pro2337=)
c.6368C= (p.Pro2123=)
c.3878C= (p.Pro1293=)
10g.71799622C>GCA377159715CDH23c.7355C>G (p.Pro2452Arg)
c.1288C>G (n.1288C>G)
c.952C>G (n.952C>G)
c.7370C>G (p.Pro2457Arg)
c.635C>G (p.Pro212Arg)
n.891C>G
c.7550C>G (p.Pro2517Arg)
c.7484C>G (p.Pro2495Arg)
c.7547C>G (p.Pro2516Arg)
c.7544C>G (p.Pro2515Arg)
c.7490C>G (p.Pro2497Arg)
c.7460C>G (p.Pro2487Arg)
c.7415C>G (p.Pro2472Arg)
c.7010C>G (p.Pro2337Arg)
c.6368C>G (p.Pro2123Arg)
c.3878C>G (p.Pro1293Arg)
10g.71799622C>TCA377159716CDH23c.7355C>T (p.Pro2452Leu)
c.1288C>T (n.1288C>T)
c.952C>T (n.952C>T)
c.7370C>T (p.Pro2457Leu)
c.635C>T (p.Pro212Leu)
n.891C>T
c.7550C>T (p.Pro2517Leu)
c.7484C>T (p.Pro2495Leu)
c.7547C>T (p.Pro2516Leu)
c.7544C>T (p.Pro2515Leu)
c.7490C>T (p.Pro2497Leu)
c.7460C>T (p.Pro2487Leu)
c.7415C>T (p.Pro2472Leu)
c.7010C>T (p.Pro2337Leu)
c.6368C>T (p.Pro2123Leu)
c.3878C>T (p.Pro1293Leu)
 dbSNP
10g.71799623C>ACA470062224CDH23c.7356C>A (p.Pro2452=)
c.1289C>A (n.1289C>A)
c.953C>A (n.953C>A)
c.7371C>A (p.Pro2457=)
c.636C>A (p.Pro212=)
n.892C>A
c.7551C>A (p.Pro2517=)
c.7485C>A (p.Pro2495=)
c.7548C>A (p.Pro2516=)
c.7545C>A (p.Pro2515=)
c.7491C>A (p.Pro2497=)
c.7461C>A (p.Pro2487=)
c.7416C>A (p.Pro2472=)
c.7011C>A (p.Pro2337=)
c.6369C>A (p.Pro2123=)
c.3879C>A (p.Pro1293=)
10g.71799623C=CA1918878948CDH23c.7356C= (p.Pro2452=)
c.1289C= (n.1289C=)
c.953C= (n.953C=)
c.7371C= (p.Pro2457=)
c.636C= (p.Pro212=)
n.892C=
c.7551C= (p.Pro2517=)
c.7485C= (p.Pro2495=)
c.7548C= (p.Pro2516=)
c.7545C= (p.Pro2515=)
c.7491C= (p.Pro2497=)
c.7461C= (p.Pro2487=)
c.7416C= (p.Pro2472=)
c.7011C= (p.Pro2337=)
c.6369C= (p.Pro2123=)
c.3879C= (p.Pro1293=)
10g.71799623C>GCA470062225CDH23c.7356C>G (p.Pro2452=)
c.1289C>G (n.1289C>G)
c.953C>G (n.953C>G)
c.7371C>G (p.Pro2457=)
c.636C>G (p.Pro212=)
n.892C>G
c.7551C>G (p.Pro2517=)
c.7485C>G (p.Pro2495=)
c.7548C>G (p.Pro2516=)
c.7545C>G (p.Pro2515=)
c.7491C>G (p.Pro2497=)
c.7461C>G (p.Pro2487=)
c.7416C>G (p.Pro2472=)
c.7011C>G (p.Pro2337=)
c.6369C>G (p.Pro2123=)
c.3879C>G (p.Pro1293=)
10g.71799623C>TCA209470459CDH23c.7356C>T (p.Pro2452=)
c.1289C>T (n.1289C>T)
c.953C>T (n.953C>T)
c.7371C>T (p.Pro2457=)
c.636C>T (p.Pro212=)
n.892C>T
c.7551C>T (p.Pro2517=)
c.7485C>T (p.Pro2495=)
c.7548C>T (p.Pro2516=)
c.7545C>T (p.Pro2515=)
c.7491C>T (p.Pro2497=)
c.7461C>T (p.Pro2487=)
c.7416C>T (p.Pro2472=)
c.7011C>T (p.Pro2337=)
c.6369C>T (p.Pro2123=)
c.3879C>T (p.Pro1293=)
 dbSNP gnomAD v4
10g.71799624A>CCA377159717CDH23c.7357A>C (p.Thr2453Pro)
c.1290A>C (n.1290A>C)
c.954A>C (n.954A>C)
c.7372A>C (p.Thr2458Pro)
c.637A>C (p.Thr213Pro)
n.893A>C
c.7552A>C (p.Thr2518Pro)
c.7486A>C (p.Thr2496Pro)
c.7549A>C (p.Thr2517Pro)
c.7546A>C (p.Thr2516Pro)
c.7492A>C (p.Thr2498Pro)
c.7462A>C (p.Thr2488Pro)
c.7417A>C (p.Thr2473Pro)
c.7012A>C (p.Thr2338Pro)
c.6370A>C (p.Thr2124Pro)
c.3880A>C (p.Thr1294Pro)
10g.71799624A>GCA377159718CDH23c.7357A>G (p.Thr2453Ala)
c.1290A>G (n.1290A>G)
c.954A>G (n.954A>G)
c.7372A>G (p.Thr2458Ala)
c.637A>G (p.Thr213Ala)
n.893A>G
c.7552A>G (p.Thr2518Ala)
c.7486A>G (p.Thr2496Ala)
c.7549A>G (p.Thr2517Ala)
c.7546A>G (p.Thr2516Ala)
c.7492A>G (p.Thr2498Ala)
c.7462A>G (p.Thr2488Ala)
c.7417A>G (p.Thr2473Ala)
c.7012A>G (p.Thr2338Ala)
c.6370A>G (p.Thr2124Ala)
c.3880A>G (p.Thr1294Ala)
 gnomAD v4
10g.71799624A>TCA377159719CDH23c.7357A>T (p.Thr2453Ser)
c.1290A>T (n.1290A>T)
c.954A>T (n.954A>T)
c.7372A>T (p.Thr2458Ser)
c.637A>T (p.Thr213Ser)
n.893A>T
c.7552A>T (p.Thr2518Ser)
c.7486A>T (p.Thr2496Ser)
c.7549A>T (p.Thr2517Ser)
c.7546A>T (p.Thr2516Ser)
c.7492A>T (p.Thr2498Ser)
c.7462A>T (p.Thr2488Ser)
c.7417A>T (p.Thr2473Ser)
c.7012A>T (p.Thr2338Ser)
c.6370A>T (p.Thr2124Ser)
c.3880A>T (p.Thr1294Ser)
10g.71799625C>ACA377159721CDH23c.7358C>A (p.Thr2453Asn)
c.1291C>A (n.1291C>A)
c.955C>A (n.955C>A)
c.7373C>A (p.Thr2458Asn)
c.638C>A (p.Thr213Asn)
n.894C>A
c.7553C>A (p.Thr2518Asn)
c.7487C>A (p.Thr2496Asn)
c.7550C>A (p.Thr2517Asn)
c.7547C>A (p.Thr2516Asn)
c.7493C>A (p.Thr2498Asn)
c.7463C>A (p.Thr2488Asn)
c.7418C>A (p.Thr2473Asn)
c.7013C>A (p.Thr2338Asn)
c.6371C>A (p.Thr2124Asn)
c.3881C>A (p.Thr1294Asn)
10g.71799625C>GCA377159722CDH23c.7358C>G (p.Thr2453Ser)
c.1291C>G (n.1291C>G)
c.955C>G (n.955C>G)
c.7373C>G (p.Thr2458Ser)
c.638C>G (p.Thr213Ser)
n.894C>G
c.7553C>G (p.Thr2518Ser)
c.7487C>G (p.Thr2496Ser)
c.7550C>G (p.Thr2517Ser)
c.7547C>G (p.Thr2516Ser)
c.7493C>G (p.Thr2498Ser)
c.7463C>G (p.Thr2488Ser)
c.7418C>G (p.Thr2473Ser)
c.7013C>G (p.Thr2338Ser)
c.6371C>G (p.Thr2124Ser)
c.3881C>G (p.Thr1294Ser)
10g.71799625C>TCA377159720CDH23c.7358C>T (p.Thr2453Ile)
c.1291C>T (n.1291C>T)
c.955C>T (n.955C>T)
c.7373C>T (p.Thr2458Ile)
c.638C>T (p.Thr213Ile)
n.894C>T
c.7553C>T (p.Thr2518Ile)
c.7487C>T (p.Thr2496Ile)
c.7550C>T (p.Thr2517Ile)
c.7547C>T (p.Thr2516Ile)
c.7493C>T (p.Thr2498Ile)
c.7463C>T (p.Thr2488Ile)
c.7418C>T (p.Thr2473Ile)
c.7013C>T (p.Thr2338Ile)
c.6371C>T (p.Thr2124Ile)
c.3881C>T (p.Thr1294Ile)
 gnomAD v4
10g.71799625_71799626insACCCCAAACACACCCAACA2788480138CDH23c.7358_7359insACCCCAAACACACCCAA (p.Thr2454ProfsTer26)
c.1291_1292insACCCCAAACACACCCAA (n.1291_1292insACCCCAAACACACCCAA)
c.955_956insACCCCAAACACACCCAA (n.955_956insACCCCAAACACACCCAA)
c.7373_7374insACCCCAAACACACCCAA (p.Thr2459ProfsTer26)
c.638_639insACCCCAAACACACCCAA (p.Thr214ProfsTer26)
n.894_895insACCCCAAACACACCCAA
c.7553_7554insACCCCAAACACACCCAA (p.Thr2519ProfsTer26)
c.7487_7488insACCCCAAACACACCCAA (p.Thr2497ProfsTer26)
c.7550_7551insACCCCAAACACACCCAA (p.Thr2518ProfsTer26)
c.7547_7548insACCCCAAACACACCCAA (p.Thr2517ProfsTer26)
c.7493_7494insACCCCAAACACACCCAA (p.Thr2499ProfsTer26)
c.7463_7464insACCCCAAACACACCCAA (p.Thr2489ProfsTer26)
c.7418_7419insACCCCAAACACACCCAA (p.Thr2474ProfsTer26)
c.7013_7014insACCCCAAACACACCCAA (p.Thr2339ProfsTer26)
c.6371_6372insACCCCAAACACACCCAA (p.Thr2125ProfsTer26)
c.3881_3882insACCCCAAACACACCCAA (p.Thr1295ProfsTer26)
10g.71799626C>ACA470062226CDH23c.7359C>A (p.Thr2453=)
c.1292C>A (n.1292C>A)
c.956C>A (n.956C>A)
c.7374C>A (p.Thr2458=)
c.639C>A (p.Thr213=)
n.895C>A
c.7554C>A (p.Thr2518=)
c.7488C>A (p.Thr2496=)
c.7551C>A (p.Thr2517=)
c.7548C>A (p.Thr2516=)
c.7494C>A (p.Thr2498=)
c.7464C>A (p.Thr2488=)
c.7419C>A (p.Thr2473=)
c.7014C>A (p.Thr2338=)
c.6372C>A (p.Thr2124=)
c.3882C>A (p.Thr1294=)
10g.71799626C=CA1918878949CDH23c.7359C= (p.Thr2453=)
c.1292C= (n.1292C=)
c.956C= (n.956C=)
c.7374C= (p.Thr2458=)
c.639C= (p.Thr213=)
n.895C=
c.7554C= (p.Thr2518=)
c.7488C= (p.Thr2496=)
c.7551C= (p.Thr2517=)
c.7548C= (p.Thr2516=)
c.7494C= (p.Thr2498=)
c.7464C= (p.Thr2488=)
c.7419C= (p.Thr2473=)
c.7014C= (p.Thr2338=)
c.6372C= (p.Thr2124=)
c.3882C= (p.Thr1294=)
10g.71799626C>GCA470062228CDH23c.7359C>G (p.Thr2453=)
c.1292C>G (n.1292C>G)
c.956C>G (n.956C>G)
c.7374C>G (p.Thr2458=)
c.639C>G (p.Thr213=)
n.895C>G
c.7554C>G (p.Thr2518=)
c.7488C>G (p.Thr2496=)
c.7551C>G (p.Thr2517=)
c.7548C>G (p.Thr2516=)
c.7494C>G (p.Thr2498=)
c.7464C>G (p.Thr2488=)
c.7419C>G (p.Thr2473=)
c.7014C>G (p.Thr2338=)
c.6372C>G (p.Thr2124=)
c.3882C>G (p.Thr1294=)
 dbSNP
10g.71799626C>TCA470062227CDH23c.7359C>T (p.Thr2453=)
c.1292C>T (n.1292C>T)
c.956C>T (n.956C>T)
c.7374C>T (p.Thr2458=)
c.639C>T (p.Thr213=)
n.895C>T
c.7554C>T (p.Thr2518=)
c.7488C>T (p.Thr2496=)
c.7551C>T (p.Thr2517=)
c.7548C>T (p.Thr2516=)
c.7494C>T (p.Thr2498=)
c.7464C>T (p.Thr2488=)
c.7419C>T (p.Thr2473=)
c.7014C>T (p.Thr2338=)
c.6372C>T (p.Thr2124=)
c.3882C>T (p.Thr1294=)
 ClinVar dbSNP gnomAD v4
10g.71799627A=CA1918878950CDH23c.7360A= (p.Thr2454=)
c.1293A= (n.1293A=)
c.957A= (n.957A=)
c.7375A= (p.Thr2459=)
c.640A= (p.Thr214=)
n.896A=
c.7555A= (p.Thr2519=)
c.7489A= (p.Thr2497=)
c.7552A= (p.Thr2518=)
c.7549A= (p.Thr2517=)
c.7495A= (p.Thr2499=)
c.7465A= (p.Thr2489=)
c.7420A= (p.Thr2474=)
c.7015A= (p.Thr2339=)
c.6373A= (p.Thr2125=)
c.3883A= (p.Thr1295=)
10g.71799627A>CCA377159723CDH23c.7360A>C (p.Thr2454Pro)
c.1293A>C (n.1293A>C)
c.957A>C (n.957A>C)
c.7375A>C (p.Thr2459Pro)
c.640A>C (p.Thr214Pro)
n.896A>C
c.7555A>C (p.Thr2519Pro)
c.7489A>C (p.Thr2497Pro)
c.7552A>C (p.Thr2518Pro)
c.7549A>C (p.Thr2517Pro)
c.7495A>C (p.Thr2499Pro)
c.7465A>C (p.Thr2489Pro)
c.7420A>C (p.Thr2474Pro)
c.7015A>C (p.Thr2339Pro)
c.6373A>C (p.Thr2125Pro)
c.3883A>C (p.Thr1295Pro)
10g.71799627A>GCA377159724CDH23c.7360A>G (p.Thr2454Ala)
c.1293A>G (n.1293A>G)
c.957A>G (n.957A>G)
c.7375A>G (p.Thr2459Ala)
c.640A>G (p.Thr214Ala)
n.896A>G
c.7555A>G (p.Thr2519Ala)
c.7489A>G (p.Thr2497Ala)
c.7552A>G (p.Thr2518Ala)
c.7549A>G (p.Thr2517Ala)
c.7495A>G (p.Thr2499Ala)
c.7465A>G (p.Thr2489Ala)
c.7420A>G (p.Thr2474Ala)
c.7015A>G (p.Thr2339Ala)
c.6373A>G (p.Thr2125Ala)
c.3883A>G (p.Thr1295Ala)
 dbSNP gnomAD v3 gnomAD v4
10g.71799627A>TCA377159725CDH23c.7360A>T (p.Thr2454Ser)
c.1293A>T (n.1293A>T)
c.957A>T (n.957A>T)
c.7375A>T (p.Thr2459Ser)
c.640A>T (p.Thr214Ser)
n.896A>T
c.7555A>T (p.Thr2519Ser)
c.7489A>T (p.Thr2497Ser)
c.7552A>T (p.Thr2518Ser)
c.7549A>T (p.Thr2517Ser)
c.7495A>T (p.Thr2499Ser)
c.7465A>T (p.Thr2489Ser)
c.7420A>T (p.Thr2474Ser)
c.7015A>T (p.Thr2339Ser)
c.6373A>T (p.Thr2125Ser)
c.3883A>T (p.Thr1295Ser)
10g.71799628C>ACA377159726CDH23c.7361C>A (p.Thr2454Lys)
c.1294C>A (n.1294C>A)
c.958C>A (n.958C>A)
c.7376C>A (p.Thr2459Lys)
c.641C>A (p.Thr214Lys)
n.897C>A
c.7556C>A (p.Thr2519Lys)
c.7490C>A (p.Thr2497Lys)
c.7553C>A (p.Thr2518Lys)
c.7550C>A (p.Thr2517Lys)
c.7496C>A (p.Thr2499Lys)
c.7466C>A (p.Thr2489Lys)
c.7421C>A (p.Thr2474Lys)
c.7016C>A (p.Thr2339Lys)
c.6374C>A (p.Thr2125Lys)
c.3884C>A (p.Thr1295Lys)
10g.71799628C=CA1918878951CDH23c.7361C= (p.Thr2454=)
c.1294C= (n.1294C=)
c.958C= (n.958C=)
c.7376C= (p.Thr2459=)
c.641C= (p.Thr214=)
n.897C=
c.7556C= (p.Thr2519=)
c.7490C= (p.Thr2497=)
c.7553C= (p.Thr2518=)
c.7550C= (p.Thr2517=)
c.7496C= (p.Thr2499=)
c.7466C= (p.Thr2489=)
c.7421C= (p.Thr2474=)
c.7016C= (p.Thr2339=)
c.6374C= (p.Thr2125=)
c.3884C= (p.Thr1295=)
10g.71799628C>GCA209470464CDH23c.7361C>G (p.Thr2454Arg)
c.1294C>G (n.1294C>G)
c.958C>G (n.958C>G)
c.7376C>G (p.Thr2459Arg)
c.641C>G (p.Thr214Arg)
n.897C>G
c.7556C>G (p.Thr2519Arg)
c.7490C>G (p.Thr2497Arg)
c.7553C>G (p.Thr2518Arg)
c.7550C>G (p.Thr2517Arg)
c.7496C>G (p.Thr2499Arg)
c.7466C>G (p.Thr2489Arg)
c.7421C>G (p.Thr2474Arg)
c.7016C>G (p.Thr2339Arg)
c.6374C>G (p.Thr2125Arg)
c.3884C>G (p.Thr1295Arg)
 dbSNP gnomAD v4
10g.71799628C>TCA5546309CDH23c.7361C>T (p.Thr2454Met)
c.1294C>T (n.1294C>T)
c.958C>T (n.958C>T)
c.7376C>T (p.Thr2459Met)
c.641C>T (p.Thr214Met)
n.897C>T
c.7556C>T (p.Thr2519Met)
c.7490C>T (p.Thr2497Met)
c.7553C>T (p.Thr2518Met)
c.7550C>T (p.Thr2517Met)
c.7496C>T (p.Thr2499Met)
c.7466C>T (p.Thr2489Met)
c.7421C>T (p.Thr2474Met)
c.7016C>T (p.Thr2339Met)
c.6374C>T (p.Thr2125Met)
c.3884C>T (p.Thr1295Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71799629G>ACA261797CDH23c.7362G>A (p.Thr2454=)
c.1295G>A (n.1295G>A)
c.959G>A (n.959G>A)
c.7377G>A (p.Thr2459=)
c.642G>A (p.Thr214=)
n.898G>A
c.7557G>A (p.Thr2519=)
c.7491G>A (p.Thr2497=)
c.7554G>A (p.Thr2518=)
c.7551G>A (p.Thr2517=)
c.7497G>A (p.Thr2499=)
c.7467G>A (p.Thr2489=)
c.7422G>A (p.Thr2474=)
c.7017G>A (p.Thr2339=)
c.6375G>A (p.Thr2125=)
c.3885G>A (p.Thr1295=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71799629G>CCA470062229CDH23c.7362G>C (p.Thr2454=)
c.1295G>C (n.1295G>C)
c.959G>C (n.959G>C)
c.7377G>C (p.Thr2459=)
c.642G>C (p.Thr214=)
n.898G>C
c.7557G>C (p.Thr2519=)
c.7491G>C (p.Thr2497=)
c.7554G>C (p.Thr2518=)
c.7551G>C (p.Thr2517=)
c.7497G>C (p.Thr2499=)
c.7467G>C (p.Thr2489=)
c.7422G>C (p.Thr2474=)
c.7017G>C (p.Thr2339=)
c.6375G>C (p.Thr2125=)
c.3885G>C (p.Thr1295=)
 gnomAD v4
10g.71799629G=CA1918878952CDH23c.7362G= (p.Thr2454=)
c.1295G= (n.1295G=)
c.959G= (n.959G=)
c.7377G= (p.Thr2459=)
c.642G= (p.Thr214=)
n.898G=
c.7557G= (p.Thr2519=)
c.7491G= (p.Thr2497=)
c.7554G= (p.Thr2518=)
c.7551G= (p.Thr2517=)
c.7497G= (p.Thr2499=)
c.7467G= (p.Thr2489=)
c.7422G= (p.Thr2474=)
c.7017G= (p.Thr2339=)
c.6375G= (p.Thr2125=)
c.3885G= (p.Thr1295=)
10g.71799629G>TCA470062230CDH23c.7362G>T (p.Thr2454=)
c.1295G>T (n.1295G>T)
c.959G>T (n.959G>T)
c.7377G>T (p.Thr2459=)
c.642G>T (p.Thr214=)
n.898G>T
c.7557G>T (p.Thr2519=)
c.7491G>T (p.Thr2497=)
c.7554G>T (p.Thr2518=)
c.7551G>T (p.Thr2517=)
c.7497G>T (p.Thr2499=)
c.7467G>T (p.Thr2489=)
c.7422G>T (p.Thr2474=)
c.7017G>T (p.Thr2339=)
c.6375G>T (p.Thr2125=)
c.3885G>T (p.Thr1295=)
10g.71799630G>ACA377159727CDH23c.7362+1G>A (n.7362+1G>A)
c.1295+1G>A (n.1295+1G>A)
c.959+1G>A (n.959+1G>A)
c.7377+1G>A (n.7377+1G>A)
c.642+1G>A (n.642+1G>A)
n.898+1G>A
c.7557+1G>A (n.7557+1G>A)
c.7491+1G>A (n.7491+1G>A)
c.7554+1G>A (n.7554+1G>A)
c.7551+1G>A (n.7551+1G>A)
c.7497+1G>A (n.7497+1G>A)
c.7467+1G>A (n.7467+1G>A)
c.7422+1G>A (n.7422+1G>A)
c.7017+1G>A (n.7017+1G>A)
c.6375+1G>A (n.6375+1G>A)
c.3885+1G>A (n.3885+1G>A)
 ClinVar dbSNP
10g.71799630G>CCA377159728CDH23c.7362+1G>C (n.7362+1G>C)
c.1295+1G>C (n.1295+1G>C)
c.959+1G>C (n.959+1G>C)
c.7377+1G>C (n.7377+1G>C)
c.642+1G>C (n.642+1G>C)
n.898+1G>C
c.7557+1G>C (n.7557+1G>C)
c.7491+1G>C (n.7491+1G>C)
c.7554+1G>C (n.7554+1G>C)
c.7551+1G>C (n.7551+1G>C)
c.7497+1G>C (n.7497+1G>C)
c.7467+1G>C (n.7467+1G>C)
c.7422+1G>C (n.7422+1G>C)
c.7017+1G>C (n.7017+1G>C)
c.6375+1G>C (n.6375+1G>C)
c.3885+1G>C (n.3885+1G>C)
10g.71799630G>TCA377159729CDH23c.7362+1G>T (n.7362+1G>T)
c.1295+1G>T (n.1295+1G>T)
c.959+1G>T (n.959+1G>T)
c.7377+1G>T (n.7377+1G>T)
c.642+1G>T (n.642+1G>T)
n.898+1G>T
c.7557+1G>T (n.7557+1G>T)
c.7491+1G>T (n.7491+1G>T)
c.7554+1G>T (n.7554+1G>T)
c.7551+1G>T (n.7551+1G>T)
c.7497+1G>T (n.7497+1G>T)
c.7467+1G>T (n.7467+1G>T)
c.7422+1G>T (n.7422+1G>T)
c.7017+1G>T (n.7017+1G>T)
c.6375+1G>T (n.6375+1G>T)
c.3885+1G>T (n.3885+1G>T)
10g.71799631T>ACA377159730CDH23c.7362+2T>A (n.7362+2T>A)
c.1295+2T>A (n.1295+2T>A)
c.959+2T>A (n.959+2T>A)
c.7377+2T>A (n.7377+2T>A)
c.642+2T>A (n.642+2T>A)
n.898+2T>A
c.7557+2T>A (n.7557+2T>A)
c.7491+2T>A (n.7491+2T>A)
c.7554+2T>A (n.7554+2T>A)
c.7551+2T>A (n.7551+2T>A)
c.7497+2T>A (n.7497+2T>A)
c.7467+2T>A (n.7467+2T>A)
c.7422+2T>A (n.7422+2T>A)
c.7017+2T>A (n.7017+2T>A)
c.6375+2T>A (n.6375+2T>A)
c.3885+2T>A (n.3885+2T>A)
10g.71799631T>CCA377159731CDH23c.7362+2T>C (n.7362+2T>C)
c.1295+2T>C (n.1295+2T>C)
c.959+2T>C (n.959+2T>C)
c.7377+2T>C (n.7377+2T>C)
c.642+2T>C (n.642+2T>C)
n.898+2T>C
c.7557+2T>C (n.7557+2T>C)
c.7491+2T>C (n.7491+2T>C)
c.7554+2T>C (n.7554+2T>C)
c.7551+2T>C (n.7551+2T>C)
c.7497+2T>C (n.7497+2T>C)
c.7467+2T>C (n.7467+2T>C)
c.7422+2T>C (n.7422+2T>C)
c.7017+2T>C (n.7017+2T>C)
c.6375+2T>C (n.6375+2T>C)
c.3885+2T>C (n.3885+2T>C)
10g.71799631T>GCA377159732CDH23c.7362+2T>G (n.7362+2T>G)
c.1295+2T>G (n.1295+2T>G)
c.959+2T>G (n.959+2T>G)
c.7377+2T>G (n.7377+2T>G)
c.642+2T>G (n.642+2T>G)
n.898+2T>G
c.7557+2T>G (n.7557+2T>G)
c.7491+2T>G (n.7491+2T>G)
c.7554+2T>G (n.7554+2T>G)
c.7551+2T>G (n.7551+2T>G)
c.7497+2T>G (n.7497+2T>G)
c.7467+2T>G (n.7467+2T>G)
c.7422+2T>G (n.7422+2T>G)
c.7017+2T>G (n.7017+2T>G)
c.6375+2T>G (n.6375+2T>G)
c.3885+2T>G (n.3885+2T>G)
10g.71799632G>ACA5546310CDH23c.7362+3G>A (n.7362+3G>A)
c.1295+3G>A (n.1295+3G>A)
c.959+3G>A (n.959+3G>A)
c.7377+3G>A (n.7377+3G>A)
c.642+3G>A (n.642+3G>A)
n.898+3G>A
c.7557+3G>A (n.7557+3G>A)
c.7491+3G>A (n.7491+3G>A)
c.7554+3G>A (n.7554+3G>A)
c.7551+3G>A (n.7551+3G>A)
c.7497+3G>A (n.7497+3G>A)
c.7467+3G>A (n.7467+3G>A)
c.7422+3G>A (n.7422+3G>A)
c.7017+3G>A (n.7017+3G>A)
c.6375+3G>A (n.6375+3G>A)
c.3885+3G>A (n.3885+3G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71799632G=CA1918878953CDH23c.7362+3G= (n.7362+3G=)
c.1295+3G= (n.1295+3G=)
c.959+3G= (n.959+3G=)
c.7377+3G= (n.7377+3G=)
c.642+3G= (n.642+3G=)
n.898+3G=
c.7557+3G= (n.7557+3G=)
c.7491+3G= (n.7491+3G=)
c.7554+3G= (n.7554+3G=)
c.7551+3G= (n.7551+3G=)
c.7497+3G= (n.7497+3G=)
c.7467+3G= (n.7467+3G=)
c.7422+3G= (n.7422+3G=)
c.7017+3G= (n.7017+3G=)
c.6375+3G= (n.6375+3G=)
c.3885+3G= (n.3885+3G=)
10g.71799632G>TCA2609590044CDH23c.7362+3G>T (n.7362+3G>T)
c.1295+3G>T (n.1295+3G>T)
c.959+3G>T (n.959+3G>T)
c.7377+3G>T (n.7377+3G>T)
c.642+3G>T (n.642+3G>T)
n.898+3G>T
c.7557+3G>T (n.7557+3G>T)
c.7491+3G>T (n.7491+3G>T)
c.7554+3G>T (n.7554+3G>T)
c.7551+3G>T (n.7551+3G>T)
c.7497+3G>T (n.7497+3G>T)
c.7467+3G>T (n.7467+3G>T)
c.7422+3G>T (n.7422+3G>T)
c.7017+3G>T (n.7017+3G>T)
c.6375+3G>T (n.6375+3G>T)
c.3885+3G>T (n.3885+3G>T)
 gnomAD v4
10g.71799634G>ACA253325CDH23c.7362+5G>A (n.7362+5G>A)
c.1295+5G>A (n.1295+5G>A)
c.959+5G>A (n.959+5G>A)
c.7377+5G>A (n.7377+5G>A)
c.642+5G>A (n.642+5G>A)
n.898+5G>A
c.7557+5G>A (n.7557+5G>A)
c.7491+5G>A (n.7491+5G>A)
c.7554+5G>A (n.7554+5G>A)
c.7551+5G>A (n.7551+5G>A)
c.7497+5G>A (n.7497+5G>A)
c.7467+5G>A (n.7467+5G>A)
c.7422+5G>A (n.7422+5G>A)
c.7017+5G>A (n.7017+5G>A)
c.6375+5G>A (n.6375+5G>A)
c.3885+5G>A (n.3885+5G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71799634G=CA1918878954CDH23c.7362+5G= (n.7362+5G=)
c.1295+5G= (n.1295+5G=)
c.959+5G= (n.959+5G=)
c.7377+5G= (n.7377+5G=)
c.642+5G= (n.642+5G=)
n.898+5G=
c.7557+5G= (n.7557+5G=)
c.7491+5G= (n.7491+5G=)
c.7554+5G= (n.7554+5G=)
c.7551+5G= (n.7551+5G=)
c.7497+5G= (n.7497+5G=)
c.7467+5G= (n.7467+5G=)
c.7422+5G= (n.7422+5G=)
c.7017+5G= (n.7017+5G=)
c.6375+5G= (n.6375+5G=)
c.3885+5G= (n.3885+5G=)
10g.71799635C=CA1918878955CDH23c.7362+6C= (n.7362+6C=)
c.1295+6C= (n.1295+6C=)
c.959+6C= (n.959+6C=)
c.7377+6C= (n.7377+6C=)
c.642+6C= (n.642+6C=)
n.898+6C=
c.7557+6C= (n.7557+6C=)
c.7491+6C= (n.7491+6C=)
c.7554+6C= (n.7554+6C=)
c.7551+6C= (n.7551+6C=)
c.7497+6C= (n.7497+6C=)
c.7467+6C= (n.7467+6C=)
c.7422+6C= (n.7422+6C=)
c.7017+6C= (n.7017+6C=)
c.6375+6C= (n.6375+6C=)
c.3885+6C= (n.3885+6C=)
10g.71799635C>TCA5546311CDH23c.7362+6C>T (n.7362+6C>T)
c.1295+6C>T (n.1295+6C>T)
c.959+6C>T (n.959+6C>T)
c.7377+6C>T (n.7377+6C>T)
c.642+6C>T (n.642+6C>T)
n.898+6C>T
c.7557+6C>T (n.7557+6C>T)
c.7491+6C>T (n.7491+6C>T)
c.7554+6C>T (n.7554+6C>T)
c.7551+6C>T (n.7551+6C>T)
c.7497+6C>T (n.7497+6C>T)
c.7467+6C>T (n.7467+6C>T)
c.7422+6C>T (n.7422+6C>T)
c.7017+6C>T (n.7017+6C>T)
c.6375+6C>T (n.6375+6C>T)
c.3885+6C>T (n.3885+6C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71799637G>ACA2609590068CDH23c.7362+8G>A (n.7362+8G>A)
c.1295+8G>A (n.1295+8G>A)
c.959+8G>A (n.959+8G>A)
c.7377+8G>A (n.7377+8G>A)
c.642+8G>A (n.642+8G>A)
n.898+8G>A
c.7557+8G>A (n.7557+8G>A)
c.7491+8G>A (n.7491+8G>A)
c.7554+8G>A (n.7554+8G>A)
c.7551+8G>A (n.7551+8G>A)
c.7497+8G>A (n.7497+8G>A)
c.7467+8G>A (n.7467+8G>A)
c.7422+8G>A (n.7422+8G>A)
c.7017+8G>A (n.7017+8G>A)
c.6375+8G>A (n.6375+8G>A)
c.3885+8G>A (n.3885+8G>A)
 gnomAD v4
10g.71799637G>CCA2580081879CDH23c.7362+8G>C (n.7362+8G>C)
c.1295+8G>C (n.1295+8G>C)
c.959+8G>C (n.959+8G>C)
c.7377+8G>C (n.7377+8G>C)
c.642+8G>C (n.642+8G>C)
n.898+8G>C
c.7557+8G>C (n.7557+8G>C)
c.7491+8G>C (n.7491+8G>C)
c.7554+8G>C (n.7554+8G>C)
c.7551+8G>C (n.7551+8G>C)
c.7497+8G>C (n.7497+8G>C)
c.7467+8G>C (n.7467+8G>C)
c.7422+8G>C (n.7422+8G>C)
c.7017+8G>C (n.7017+8G>C)
c.6375+8G>C (n.6375+8G>C)
c.3885+8G>C (n.3885+8G>C)
 ClinVar
10g.71799637_71799649delinsGTGATGGAGGGCCCA1918878956CDH23c.7362+8_7362+20delinsGTGATGGAGGGCC (n.7362+8_7362+20delinsGTGATGGAGGGCC)
c.1295+8_1295+20delinsGTGATGGAGGGCC (n.1295+8_1295+20delinsGTGATGGAGGGCC)
c.959+8_959+20delinsGTGATGGAGGGCC (n.959+8_959+20delinsGTGATGGAGGGCC)
c.7377+8_7377+20delinsGTGATGGAGGGCC (n.7377+8_7377+20delinsGTGATGGAGGGCC)
c.642+8_642+20delinsGTGATGGAGGGCC (n.642+8_642+20delinsGTGATGGAGGGCC)
n.898+8_898+20delinsGTGATGGAGGGCC
c.7557+8_7557+20delinsGTGATGGAGGGCC (n.7557+8_7557+20delinsGTGATGGAGGGCC)
c.7491+8_7491+20delinsGTGATGGAGGGCC (n.7491+8_7491+20delinsGTGATGGAGGGCC)
c.7554+8_7554+20delinsGTGATGGAGGGCC (n.7554+8_7554+20delinsGTGATGGAGGGCC)
c.7551+8_7551+20delinsGTGATGGAGGGCC (n.7551+8_7551+20delinsGTGATGGAGGGCC)
c.7497+8_7497+20delinsGTGATGGAGGGCC (n.7497+8_7497+20delinsGTGATGGAGGGCC)
c.7467+8_7467+20delinsGTGATGGAGGGCC (n.7467+8_7467+20delinsGTGATGGAGGGCC)
c.7422+8_7422+20delinsGTGATGGAGGGCC (n.7422+8_7422+20delinsGTGATGGAGGGCC)
c.7017+8_7017+20delinsGTGATGGAGGGCC (n.7017+8_7017+20delinsGTGATGGAGGGCC)
c.6375+8_6375+20delinsGTGATGGAGGGCC (n.6375+8_6375+20delinsGTGATGGAGGGCC)
c.3885+8_3885+20delinsGTGATGGAGGGCC (n.3885+8_3885+20delinsGTGATGGAGGGCC)
10g.71799638T>ACA5546312CDH23c.7362+9T>A (n.7362+9T>A)
c.1295+9T>A (n.1295+9T>A)
c.959+9T>A (n.959+9T>A)
c.7377+9T>A (n.7377+9T>A)
c.642+9T>A (n.642+9T>A)
n.898+9T>A
c.7557+9T>A (n.7557+9T>A)
c.7491+9T>A (n.7491+9T>A)
c.7554+9T>A (n.7554+9T>A)
c.7551+9T>A (n.7551+9T>A)
c.7497+9T>A (n.7497+9T>A)
c.7467+9T>A (n.7467+9T>A)
c.7422+9T>A (n.7422+9T>A)
c.7017+9T>A (n.7017+9T>A)
c.6375+9T>A (n.6375+9T>A)
c.3885+9T>A (n.3885+9T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71799638T>CCA913487111CDH23c.7362+9T>C (n.7362+9T>C)
c.1295+9T>C (n.1295+9T>C)
c.959+9T>C (n.959+9T>C)
c.7377+9T>C (n.7377+9T>C)
c.642+9T>C (n.642+9T>C)
n.898+9T>C
c.7557+9T>C (n.7557+9T>C)
c.7491+9T>C (n.7491+9T>C)
c.7554+9T>C (n.7554+9T>C)
c.7551+9T>C (n.7551+9T>C)
c.7497+9T>C (n.7497+9T>C)
c.7467+9T>C (n.7467+9T>C)
c.7422+9T>C (n.7422+9T>C)
c.7017+9T>C (n.7017+9T>C)
c.6375+9T>C (n.6375+9T>C)
c.3885+9T>C (n.3885+9T>C)
 gnomAD v2 gnomAD v4
10g.71799638T=CA1918878957CDH23c.7362+9T= (n.7362+9T=)
c.1295+9T= (n.1295+9T=)
c.959+9T= (n.959+9T=)
c.7377+9T= (n.7377+9T=)
c.642+9T= (n.642+9T=)
n.898+9T=
c.7557+9T= (n.7557+9T=)
c.7491+9T= (n.7491+9T=)
c.7554+9T= (n.7554+9T=)
c.7551+9T= (n.7551+9T=)
c.7497+9T= (n.7497+9T=)
c.7467+9T= (n.7467+9T=)
c.7422+9T= (n.7422+9T=)
c.7017+9T= (n.7017+9T=)
c.6375+9T= (n.6375+9T=)
c.3885+9T= (n.3885+9T=)
10g.71799640_71799651delCA594316400CDH23c.7362+11_7362+22del (n.7362+11_7362+22del)
c.1295+11_1295+22del (n.1295+11_1295+22del)
c.959+11_959+22del (n.959+11_959+22del)
c.7377+11_7377+22del (n.7377+11_7377+22del)
c.642+11_642+22del (n.642+11_642+22del)
n.898+11_898+22del
c.7557+11_7557+22del (n.7557+11_7557+22del)
c.7491+11_7491+22del (n.7491+11_7491+22del)
c.7554+11_7554+22del (n.7554+11_7554+22del)
c.7551+11_7551+22del (n.7551+11_7551+22del)
c.7497+11_7497+22del (n.7497+11_7497+22del)
c.7467+11_7467+22del (n.7467+11_7467+22del)
c.7422+11_7422+22del (n.7422+11_7422+22del)
c.7017+11_7017+22del (n.7017+11_7017+22del)
c.6375+11_6375+22del (n.6375+11_6375+22del)
c.3885+11_3885+22del (n.3885+11_3885+22del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71799639G>ACA5546313CDH23c.7362+10G>A (n.7362+10G>A)
c.1295+10G>A (n.1295+10G>A)
c.959+10G>A (n.959+10G>A)
c.7377+10G>A (n.7377+10G>A)
c.642+10G>A (n.642+10G>A)
n.898+10G>A
c.7557+10G>A (n.7557+10G>A)
c.7491+10G>A (n.7491+10G>A)
c.7554+10G>A (n.7554+10G>A)
c.7551+10G>A (n.7551+10G>A)
c.7497+10G>A (n.7497+10G>A)
c.7467+10G>A (n.7467+10G>A)
c.7422+10G>A (n.7422+10G>A)
c.7017+10G>A (n.7017+10G>A)
c.6375+10G>A (n.6375+10G>A)
c.3885+10G>A (n.3885+10G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71799639G=CA1918878958CDH23c.7362+10G= (n.7362+10G=)
c.1295+10G= (n.1295+10G=)
c.959+10G= (n.959+10G=)
c.7377+10G= (n.7377+10G=)
c.642+10G= (n.642+10G=)
n.898+10G=
c.7557+10G= (n.7557+10G=)
c.7491+10G= (n.7491+10G=)
c.7554+10G= (n.7554+10G=)
c.7551+10G= (n.7551+10G=)
c.7497+10G= (n.7497+10G=)
c.7467+10G= (n.7467+10G=)
c.7422+10G= (n.7422+10G=)
c.7017+10G= (n.7017+10G=)
c.6375+10G= (n.6375+10G=)
c.3885+10G= (n.3885+10G=)
10g.71799640A>TCA2609590087CDH23c.7362+11A>T (n.7362+11A>T)
c.1295+11A>T (n.1295+11A>T)
c.959+11A>T (n.959+11A>T)
c.7377+11A>T (n.7377+11A>T)
c.642+11A>T (n.642+11A>T)
n.898+11A>T
c.7557+11A>T (n.7557+11A>T)
c.7491+11A>T (n.7491+11A>T)
c.7554+11A>T (n.7554+11A>T)
c.7551+11A>T (n.7551+11A>T)
c.7497+11A>T (n.7497+11A>T)
c.7467+11A>T (n.7467+11A>T)
c.7422+11A>T (n.7422+11A>T)
c.7017+11A>T (n.7017+11A>T)
c.6375+11A>T (n.6375+11A>T)
c.3885+11A>T (n.3885+11A>T)
 gnomAD v4
10g.71799641T>CCA2740093021CDH23c.7362+12T>C (n.7362+12T>C)
c.1295+12T>C (n.1295+12T>C)
c.959+12T>C (n.959+12T>C)
c.7377+12T>C (n.7377+12T>C)
c.642+12T>C (n.642+12T>C)
n.898+12T>C
c.7557+12T>C (n.7557+12T>C)
c.7491+12T>C (n.7491+12T>C)
c.7554+12T>C (n.7554+12T>C)
c.7551+12T>C (n.7551+12T>C)
c.7497+12T>C (n.7497+12T>C)
c.7467+12T>C (n.7467+12T>C)
c.7422+12T>C (n.7422+12T>C)
c.7017+12T>C (n.7017+12T>C)
c.6375+12T>C (n.6375+12T>C)
c.3885+12T>C (n.3885+12T>C)
 ClinVar

Number of alleles fetched