Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.1049855_1049911delinsCCGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCTCA1148746705AGRNc.4745-48_4753delinsCCGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCT
c.4430-48_4438delinsCCGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCT
c.4331-48_4339delinsCCGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCT
c.3872-48_3880delinsCCGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCT
c.3011-48_3019delinsCCGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCT
n.4812-48_4820delinsCCGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCT
n.4816-48_4824delinsCCGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCT
1g.1049856_1049911delCA915941082AGRNc.4745-47_4753del
c.4430-47_4438del
c.4331-47_4339del
c.3872-47_3880del
c.3011-47_3019del
n.4812-47_4820del
n.4816-47_4824del
 ClinVar dbSNP
1g.1049868_1049887delCA2642497226AGRNc.4745-35_4745-16del (n.4745-35_4745-16del)
c.4430-35_4430-16del (n.4430-35_4430-16del)
c.4331-35_4331-16del (n.4331-35_4331-16del)
c.3872-35_3872-16del (n.3872-35_3872-16del)
c.3011-35_3011-16del (n.3011-35_3011-16del)
n.4812-35_4812-16del
n.4816-35_4816-16del
 gnomAD v4
1g.1049873T>CCA509615AGRNc.4745-30T>C (n.4745-30T>C)
c.4430-30T>C (n.4430-30T>C)
c.4331-30T>C (n.4331-30T>C)
c.3872-30T>C (n.3872-30T>C)
c.3011-30T>C (n.3011-30T>C)
n.4812-30T>C
n.4816-30T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1049873T>GCA1148746862AGRNc.4745-30T>G (n.4745-30T>G)
c.4430-30T>G (n.4430-30T>G)
c.4331-30T>G (n.4331-30T>G)
c.3872-30T>G (n.3872-30T>G)
c.3011-30T>G (n.3011-30T>G)
n.4812-30T>G
n.4816-30T>G
 dbSNP
1g.1049873T=CA1148746851AGRNc.4745-30T= (n.4745-30T=)
c.4430-30T= (n.4430-30T=)
c.4331-30T= (n.4331-30T=)
c.3872-30T= (n.3872-30T=)
c.3011-30T= (n.3011-30T=)
n.4812-30T=
n.4816-30T=
1g.1049874C>ACA2574221909AGRNc.4745-29C>A (n.4745-29C>A)
c.4430-29C>A (n.4430-29C>A)
c.4331-29C>A (n.4331-29C>A)
c.3872-29C>A (n.3872-29C>A)
c.3011-29C>A (n.3011-29C>A)
n.4812-29C>A
n.4816-29C>A
 gnomAD v4
1g.1049874C=CA1143130082AGRNc.4745-29C= (n.4745-29C=)
c.4430-29C= (n.4430-29C=)
c.4331-29C= (n.4331-29C=)
c.3872-29C= (n.3872-29C=)
c.3011-29C= (n.3011-29C=)
n.4812-29C=
n.4816-29C=
1g.1049874C>TCA509616AGRNc.4745-29C>T (n.4745-29C>T)
c.4430-29C>T (n.4430-29C>T)
c.4331-29C>T (n.4331-29C>T)
c.3872-29C>T (n.3872-29C>T)
c.3011-29C>T (n.3011-29C>T)
n.4812-29C>T
n.4816-29C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049875G>ACA520620525AGRNc.4745-28G>A (n.4745-28G>A)
c.4430-28G>A (n.4430-28G>A)
c.4331-28G>A (n.4331-28G>A)
c.3872-28G>A (n.3872-28G>A)
c.3011-28G>A (n.3011-28G>A)
n.4812-28G>A
n.4816-28G>A
 dbSNP gnomAD v2 gnomAD v4
1g.1049875G>CCA16700758AGRNc.4745-28G>C (n.4745-28G>C)
c.4430-28G>C (n.4430-28G>C)
c.4331-28G>C (n.4331-28G>C)
c.3872-28G>C (n.3872-28G>C)
c.3011-28G>C (n.3011-28G>C)
n.4812-28G>C
n.4816-28G>C
 dbSNP gnomAD v3 gnomAD v4
1g.1049875G=CA1143846919AGRNc.4745-28G= (n.4745-28G=)
c.4430-28G= (n.4430-28G=)
c.4331-28G= (n.4331-28G=)
c.3872-28G= (n.3872-28G=)
c.3011-28G= (n.3011-28G=)
n.4812-28G=
n.4816-28G=
1g.1049875G>TCA509617AGRNc.4745-28G>T (n.4745-28G>T)
c.4430-28G>T (n.4430-28G>T)
c.4331-28G>T (n.4331-28G>T)
c.3872-28G>T (n.3872-28G>T)
c.3011-28G>T (n.3011-28G>T)
n.4812-28G>T
n.4816-28G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049876G>TCA2642497281AGRNc.4745-27G>T (n.4745-27G>T)
c.4430-27G>T (n.4430-27G>T)
c.4331-27G>T (n.4331-27G>T)
c.3872-27G>T (n.3872-27G>T)
c.3011-27G>T (n.3011-27G>T)
n.4812-27G>T
n.4816-27G>T
 gnomAD v4
1g.1049877T>ACA1148746881AGRNc.4745-26T>A (n.4745-26T>A)
c.4430-26T>A (n.4430-26T>A)
c.4331-26T>A (n.4331-26T>A)
c.3872-26T>A (n.3872-26T>A)
c.3011-26T>A (n.3011-26T>A)
n.4812-26T>A
n.4816-26T>A
 dbSNP
1g.1049877T>CCA520620526AGRNc.4745-26T>C (n.4745-26T>C)
c.4430-26T>C (n.4430-26T>C)
c.4331-26T>C (n.4331-26T>C)
c.3872-26T>C (n.3872-26T>C)
c.3011-26T>C (n.3011-26T>C)
n.4812-26T>C
n.4816-26T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1049877T=CA1148746902AGRNc.4745-26T= (n.4745-26T=)
c.4430-26T= (n.4430-26T=)
c.4331-26T= (n.4331-26T=)
c.3872-26T= (n.3872-26T=)
c.3011-26T= (n.3011-26T=)
n.4812-26T=
n.4816-26T=
1g.1049877_1049878delinsTCCA1148746909AGRNc.4745-26_4745-25delinsTC (n.4745-26_4745-25delinsTC)
c.4430-26_4430-25delinsTC (n.4430-26_4430-25delinsTC)
c.4331-26_4331-25delinsTC (n.4331-26_4331-25delinsTC)
c.3872-26_3872-25delinsTC (n.3872-26_3872-25delinsTC)
c.3011-26_3011-25delinsTC (n.3011-26_3011-25delinsTC)
n.4812-26_4812-25delinsTC
n.4816-26_4816-25delinsTC
1g.1049878C=CA1148746923AGRNc.4745-25C= (n.4745-25C=)
c.4430-25C= (n.4430-25C=)
c.4331-25C= (n.4331-25C=)
c.3872-25C= (n.3872-25C=)
c.3011-25C= (n.3011-25C=)
n.4812-25C=
n.4816-25C=
1g.1049878C>TCA509619AGRNc.4745-25C>T (n.4745-25C>T)
c.4430-25C>T (n.4430-25C>T)
c.4331-25C>T (n.4331-25C>T)
c.3872-25C>T (n.3872-25C>T)
c.3011-25C>T (n.3011-25C>T)
n.4812-25C>T
n.4816-25C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1049878_1049880delinsCCCCA1148239024AGRNc.4745-25_4745-23delinsCCC (n.4745-25_4745-23delinsCCC)
c.4430-25_4430-23delinsCCC (n.4430-25_4430-23delinsCCC)
c.4331-25_4331-23delinsCCC (n.4331-25_4331-23delinsCCC)
c.3872-25_3872-23delinsCCC (n.3872-25_3872-23delinsCCC)
c.3011-25_3011-23delinsCCC (n.3011-25_3011-23delinsCCC)
n.4812-25_4812-23delinsCCC
n.4816-25_4816-23delinsCCC
1g.1049880delCA509618AGRNc.4745-23del (n.4745-23del)
c.4430-23del (n.4430-23del)
c.4331-23del (n.4331-23del)
c.3872-23del (n.3872-23del)
c.3011-23del (n.3011-23del)
n.4812-23del
n.4816-23del
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1049879C=CA1148746975AGRNc.4745-24C= (n.4745-24C=)
c.4430-24C= (n.4430-24C=)
c.4331-24C= (n.4331-24C=)
c.3872-24C= (n.3872-24C=)
c.3011-24C= (n.3011-24C=)
n.4812-24C=
n.4816-24C=
1g.1049879C>TCA1148746974AGRNc.4745-24C>T (n.4745-24C>T)
c.4430-24C>T (n.4430-24C>T)
c.4331-24C>T (n.4331-24C>T)
c.3872-24C>T (n.3872-24C>T)
c.3011-24C>T (n.3011-24C>T)
n.4812-24C>T
n.4816-24C>T
 dbSNP gnomAD v4
1g.1049880C>ACA509621AGRNc.4745-23C>A (n.4745-23C>A)
c.4430-23C>A (n.4430-23C>A)
c.4331-23C>A (n.4331-23C>A)
c.3872-23C>A (n.3872-23C>A)
c.3011-23C>A (n.3011-23C>A)
n.4812-23C>A
n.4816-23C>A
 dbSNP ExAC
1g.1049880C=CA1144089989AGRNc.4745-23C= (n.4745-23C=)
c.4430-23C= (n.4430-23C=)
c.4331-23C= (n.4331-23C=)
c.3872-23C= (n.3872-23C=)
c.3011-23C= (n.3011-23C=)
n.4812-23C=
n.4816-23C=
1g.1049880C>GCA509622AGRNc.4745-23C>G (n.4745-23C>G)
c.4430-23C>G (n.4430-23C>G)
c.4331-23C>G (n.4331-23C>G)
c.3872-23C>G (n.3872-23C>G)
c.3011-23C>G (n.3011-23C>G)
n.4812-23C>G
n.4816-23C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049880C>TCA509620AGRNc.4745-23C>T (n.4745-23C>T)
c.4430-23C>T (n.4430-23C>T)
c.4331-23C>T (n.4331-23C>T)
c.3872-23C>T (n.3872-23C>T)
c.3011-23C>T (n.3011-23C>T)
n.4812-23C>T
n.4816-23C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049881G>ACA509623AGRNc.4745-22G>A (n.4745-22G>A)
c.4430-22G>A (n.4430-22G>A)
c.4331-22G>A (n.4331-22G>A)
c.3872-22G>A (n.3872-22G>A)
c.3011-22G>A (n.3011-22G>A)
n.4812-22G>A
n.4816-22G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049881G>CCA1148747012AGRNc.4745-22G>C (n.4745-22G>C)
c.4430-22G>C (n.4430-22G>C)
c.4331-22G>C (n.4331-22G>C)
c.3872-22G>C (n.3872-22G>C)
c.3011-22G>C (n.3011-22G>C)
n.4812-22G>C
n.4816-22G>C
 dbSNP gnomAD v4
1g.1049881G=CA1148747004AGRNc.4745-22G= (n.4745-22G=)
c.4430-22G= (n.4430-22G=)
c.4331-22G= (n.4331-22G=)
c.3872-22G= (n.3872-22G=)
c.3011-22G= (n.3011-22G=)
n.4812-22G=
n.4816-22G=
1g.1049882G>ACA520620527AGRNc.4745-21G>A (n.4745-21G>A)
c.4430-21G>A (n.4430-21G>A)
c.4331-21G>A (n.4331-21G>A)
c.3872-21G>A (n.3872-21G>A)
c.3011-21G>A (n.3011-21G>A)
n.4812-21G>A
n.4816-21G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1049882G=CA1148747020AGRNc.4745-21G= (n.4745-21G=)
c.4430-21G= (n.4430-21G=)
c.4331-21G= (n.4331-21G=)
c.3872-21G= (n.3872-21G=)
c.3011-21G= (n.3011-21G=)
n.4812-21G=
n.4816-21G=
1g.1049883T>CCA2574221910AGRNc.4745-20T>C (n.4745-20T>C)
c.4430-20T>C (n.4430-20T>C)
c.4331-20T>C (n.4331-20T>C)
c.3872-20T>C (n.3872-20T>C)
c.3011-20T>C (n.3011-20T>C)
n.4812-20T>C
n.4816-20T>C
1g.1049883T>GCA520620528AGRNc.4745-20T>G (n.4745-20T>G)
c.4430-20T>G (n.4430-20T>G)
c.4331-20T>G (n.4331-20T>G)
c.3872-20T>G (n.3872-20T>G)
c.3011-20T>G (n.3011-20T>G)
n.4812-20T>G
n.4816-20T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1049883T=CA1148747060AGRNc.4745-20T= (n.4745-20T=)
c.4430-20T= (n.4430-20T=)
c.4331-20T= (n.4331-20T=)
c.3872-20T= (n.3872-20T=)
c.3011-20T= (n.3011-20T=)
n.4812-20T=
n.4816-20T=
1g.1049884C=CA1148747082AGRNc.4745-19C= (n.4745-19C=)
c.4430-19C= (n.4430-19C=)
c.4331-19C= (n.4331-19C=)
c.3872-19C= (n.3872-19C=)
c.3011-19C= (n.3011-19C=)
n.4812-19C=
n.4816-19C=
1g.1049884C>GCA1148747062AGRNc.4745-19C>G (n.4745-19C>G)
c.4430-19C>G (n.4430-19C>G)
c.4331-19C>G (n.4331-19C>G)
c.3872-19C>G (n.3872-19C>G)
c.3011-19C>G (n.3011-19C>G)
n.4812-19C>G
n.4816-19C>G
 dbSNP
1g.1049884C>TCA509624AGRNc.4745-19C>T (n.4745-19C>T)
c.4430-19C>T (n.4430-19C>T)
c.4331-19C>T (n.4331-19C>T)
c.3872-19C>T (n.3872-19C>T)
c.3011-19C>T (n.3011-19C>T)
n.4812-19C>T
n.4816-19C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049886delCA2642497317AGRNc.4745-17del (n.4745-17del)
c.4430-17del (n.4430-17del)
c.4331-17del (n.4331-17del)
c.3872-17del (n.3872-17del)
c.3011-17del (n.3011-17del)
n.4812-17del
n.4816-17del
 gnomAD v4
1g.1049885C=CA1148254905AGRNc.4745-18C= (n.4745-18C=)
c.4430-18C= (n.4430-18C=)
c.4331-18C= (n.4331-18C=)
c.3872-18C= (n.3872-18C=)
c.3011-18C= (n.3011-18C=)
n.4812-18C=
n.4816-18C=
1g.1049885C>TCA509625AGRNc.4745-18C>T (n.4745-18C>T)
c.4430-18C>T (n.4430-18C>T)
c.4331-18C>T (n.4331-18C>T)
c.3872-18C>T (n.3872-18C>T)
c.3011-18C>T (n.3011-18C>T)
n.4812-18C>T
n.4816-18C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1049886C>ACA2574221911AGRNc.4745-17C>A (n.4745-17C>A)
c.4430-17C>A (n.4430-17C>A)
c.4331-17C>A (n.4331-17C>A)
c.3872-17C>A (n.3872-17C>A)
c.3011-17C>A (n.3011-17C>A)
n.4812-17C>A
n.4816-17C>A
1g.1049886C=CA1139925228AGRNc.4745-17C= (n.4745-17C=)
c.4430-17C= (n.4430-17C=)
c.4331-17C= (n.4331-17C=)
c.3872-17C= (n.3872-17C=)
c.3011-17C= (n.3011-17C=)
n.4812-17C=
n.4816-17C=
1g.1049886C>GCA1148747134AGRNc.4745-17C>G (n.4745-17C>G)
c.4430-17C>G (n.4430-17C>G)
c.4331-17C>G (n.4331-17C>G)
c.3872-17C>G (n.3872-17C>G)
c.3011-17C>G (n.3011-17C>G)
n.4812-17C>G
n.4816-17C>G
 dbSNP
1g.1049886C>TCA509626AGRNc.4745-17C>T (n.4745-17C>T)
c.4430-17C>T (n.4430-17C>T)
c.4331-17C>T (n.4331-17C>T)
c.3872-17C>T (n.3872-17C>T)
c.3011-17C>T (n.3011-17C>T)
n.4812-17C>T
n.4816-17C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049887G>ACA520620529AGRNc.4745-16G>A (n.4745-16G>A)
c.4430-16G>A (n.4430-16G>A)
c.4331-16G>A (n.4331-16G>A)
c.3872-16G>A (n.3872-16G>A)
c.3011-16G>A (n.3011-16G>A)
n.4812-16G>A
n.4816-16G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1049887G=CA1148747167AGRNc.4745-16G= (n.4745-16G=)
c.4430-16G= (n.4430-16G=)
c.4331-16G= (n.4331-16G=)
c.3872-16G= (n.3872-16G=)
c.3011-16G= (n.3011-16G=)
n.4812-16G=
n.4816-16G=
1g.1049887G>TCA2642497327AGRNc.4745-16G>T (n.4745-16G>T)
c.4430-16G>T (n.4430-16G>T)
c.4331-16G>T (n.4331-16G>T)
c.3872-16G>T (n.3872-16G>T)
c.3011-16G>T (n.3011-16G>T)
n.4812-16G>T
n.4816-16G>T
 gnomAD v4
1g.1049888T>ACA2642497331AGRNc.4745-15T>A (n.4745-15T>A)
c.4430-15T>A (n.4430-15T>A)
c.4331-15T>A (n.4331-15T>A)
c.3872-15T>A (n.3872-15T>A)
c.3011-15T>A (n.3011-15T>A)
n.4812-15T>A
n.4816-15T>A
 dbSNP gnomAD v4
1g.1049889C=CA1148747174AGRNc.4745-14C= (n.4745-14C=)
c.4430-14C= (n.4430-14C=)
c.4331-14C= (n.4331-14C=)
c.3872-14C= (n.3872-14C=)
c.3011-14C= (n.3011-14C=)
n.4812-14C=
n.4816-14C=
1g.1049889C>TCA509627AGRNc.4745-14C>T (n.4745-14C>T)
c.4430-14C>T (n.4430-14C>T)
c.4331-14C>T (n.4331-14C>T)
c.3872-14C>T (n.3872-14C>T)
c.3011-14C>T (n.3011-14C>T)
n.4812-14C>T
n.4816-14C>T
 ClinVar dbSNP ExAC gnomAD v2
1g.1049890T>GCA2742134936AGRNc.4745-13T>G (n.4745-13T>G)
c.4430-13T>G (n.4430-13T>G)
c.4331-13T>G (n.4331-13T>G)
c.3872-13T>G (n.3872-13T>G)
c.3011-13T>G (n.3011-13T>G)
n.4812-13T>G
n.4816-13T>G
1g.1049891_1049895delinsTCCTCCA1148747179AGRNc.4745-12_4745-8delinsTCCTC (n.4745-12_4745-8delinsTCCTC)
c.4430-12_4430-8delinsTCCTC (n.4430-12_4430-8delinsTCCTC)
c.4331-12_4331-8delinsTCCTC (n.4331-12_4331-8delinsTCCTC)
c.3872-12_3872-8delinsTCCTC (n.3872-12_3872-8delinsTCCTC)
c.3011-12_3011-8delinsTCCTC (n.3011-12_3011-8delinsTCCTC)
n.4812-12_4812-8delinsTCCTC
n.4816-12_4816-8delinsTCCTC
1g.1049892C=CA1148747223AGRNc.4745-11C= (n.4745-11C=)
c.4430-11C= (n.4430-11C=)
c.4331-11C= (n.4331-11C=)
c.3872-11C= (n.3872-11C=)
c.3011-11C= (n.3011-11C=)
n.4812-11C=
n.4816-11C=
1g.1049892C>TCA509628AGRNc.4745-11C>T (n.4745-11C>T)
c.4430-11C>T (n.4430-11C>T)
c.4331-11C>T (n.4331-11C>T)
c.3872-11C>T (n.3872-11C>T)
c.3011-11C>T (n.3011-11C>T)
n.4812-11C>T
n.4816-11C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049893_1049896delCA884899050AGRNc.4745-10_4745-7del (n.4745-10_4745-7del)
c.4430-10_4430-7del (n.4430-10_4430-7del)
c.4331-10_4331-7del (n.4331-10_4331-7del)
c.3872-10_3872-7del (n.3872-10_3872-7del)
c.3011-10_3011-7del (n.3011-10_3011-7del)
n.4812-10_4812-7del
n.4816-10_4816-7del
 dbSNP gnomAD v3 gnomAD v4
1g.1049893C=CA1148747269AGRNc.4745-10C= (n.4745-10C=)
c.4430-10C= (n.4430-10C=)
c.4331-10C= (n.4331-10C=)
c.3872-10C= (n.3872-10C=)
c.3011-10C= (n.3011-10C=)
n.4812-10C=
n.4816-10C=
1g.1049893C>GCA2642497334AGRNc.4745-10C>G (n.4745-10C>G)
c.4430-10C>G (n.4430-10C>G)
c.4331-10C>G (n.4331-10C>G)
c.3872-10C>G (n.3872-10C>G)
c.3011-10C>G (n.3011-10C>G)
n.4812-10C>G
n.4816-10C>G
 gnomAD v4
1g.1049893C>TCA509629AGRNc.4745-10C>T (n.4745-10C>T)
c.4430-10C>T (n.4430-10C>T)
c.4331-10C>T (n.4331-10C>T)
c.3872-10C>T (n.3872-10C>T)
c.3011-10C>T (n.3011-10C>T)
n.4812-10C>T
n.4816-10C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1049895C>GCA2574221912AGRNc.4745-8C>G (n.4745-8C>G)
c.4430-8C>G (n.4430-8C>G)
c.4331-8C>G (n.4331-8C>G)
c.3872-8C>G (n.3872-8C>G)
c.3011-8C>G (n.3011-8C>G)
n.4812-8C>G
n.4816-8C>G
 gnomAD v4
1g.1049895C>TCA2573130456AGRNc.4745-8C>T (n.4745-8C>T)
c.4430-8C>T (n.4430-8C>T)
c.4331-8C>T (n.4331-8C>T)
c.3872-8C>T (n.3872-8C>T)
c.3011-8C>T (n.3011-8C>T)
n.4812-8C>T
n.4816-8C>T
 ClinVar dbSNP
1g.1049897A=CA1148747298AGRNc.4745-6A= (n.4745-6A=)
c.4430-6A= (n.4430-6A=)
c.4331-6A= (n.4331-6A=)
c.3872-6A= (n.3872-6A=)
c.3011-6A= (n.3011-6A=)
n.4812-6A=
n.4816-6A=
1g.1049897A>GCA997657474AGRNc.4745-6A>G (n.4745-6A>G)
c.4430-6A>G (n.4430-6A>G)
c.4331-6A>G (n.4331-6A>G)
c.3872-6A>G (n.3872-6A>G)
c.3011-6A>G (n.3011-6A>G)
n.4812-6A>G
n.4816-6A>G
 dbSNP gnomAD v3 gnomAD v4
1g.1049899C>ACA509631AGRNc.4745-4C>A (n.4745-4C>A)
c.4430-4C>A (n.4430-4C>A)
c.4331-4C>A (n.4331-4C>A)
c.3872-4C>A (n.3872-4C>A)
c.3011-4C>A (n.3011-4C>A)
n.4812-4C>A
n.4816-4C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1049899C=CA1148747307AGRNc.4745-4C= (n.4745-4C=)
c.4430-4C= (n.4430-4C=)
c.4331-4C= (n.4331-4C=)
c.3872-4C= (n.3872-4C=)
c.3011-4C= (n.3011-4C=)
n.4812-4C=
n.4816-4C=
1g.1049899C>TCA509630AGRNc.4745-4C>T (n.4745-4C>T)
c.4430-4C>T (n.4430-4C>T)
c.4331-4C>T (n.4331-4C>T)
c.3872-4C>T (n.3872-4C>T)
c.3011-4C>T (n.3011-4C>T)
n.4812-4C>T
n.4816-4C>T
 dbSNP ExAC gnomAD v2
1g.1049901A>CCA337779308AGRNc.4745-2A>C (n.4745-2A>C)
c.4430-2A>C (n.4430-2A>C)
c.4331-2A>C (n.4331-2A>C)
c.3872-2A>C (n.3872-2A>C)
c.3011-2A>C (n.3011-2A>C)
n.4812-2A>C
n.4816-2A>C
1g.1049901A>GCA337779309AGRNc.4745-2A>G (n.4745-2A>G)
c.4430-2A>G (n.4430-2A>G)
c.4331-2A>G (n.4331-2A>G)
c.3872-2A>G (n.3872-2A>G)
c.3011-2A>G (n.3011-2A>G)
n.4812-2A>G
n.4816-2A>G
1g.1049901A>TCA337779310AGRNc.4745-2A>T (n.4745-2A>T)
c.4430-2A>T (n.4430-2A>T)
c.4331-2A>T (n.4331-2A>T)
c.3872-2A>T (n.3872-2A>T)
c.3011-2A>T (n.3011-2A>T)
n.4812-2A>T
n.4816-2A>T
1g.1049902G>ACA337779311AGRNc.4745-1G>A (n.4745-1G>A)
c.4430-1G>A (n.4430-1G>A)
c.4331-1G>A (n.4331-1G>A)
c.3872-1G>A (n.3872-1G>A)
c.3011-1G>A (n.3011-1G>A)
n.4812-1G>A
n.4816-1G>A
 COSMIC
1g.1049902G>CCA337779312AGRNc.4745-1G>C (n.4745-1G>C)
c.4430-1G>C (n.4430-1G>C)
c.4331-1G>C (n.4331-1G>C)
c.3872-1G>C (n.3872-1G>C)
c.3011-1G>C (n.3011-1G>C)
n.4812-1G>C
n.4816-1G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1049902G=CA1148747320AGRNc.4745-1G= (n.4745-1G=)
c.4430-1G= (n.4430-1G=)
c.4331-1G= (n.4331-1G=)
c.3872-1G= (n.3872-1G=)
c.3011-1G= (n.3011-1G=)
n.4812-1G=
n.4816-1G=
1g.1049902G>TCA337779313AGRNc.4745-1G>T (n.4745-1G>T)
c.4430-1G>T (n.4430-1G>T)
c.4331-1G>T (n.4331-1G>T)
c.3872-1G>T (n.3872-1G>T)
c.3011-1G>T (n.3011-1G>T)
n.4812-1G>T
n.4816-1G>T
1g.1049903G>ACA509632AGRNc.4745G>A (p.Gly1582Glu)
c.4430G>A (p.Gly1477Glu)
c.4331G>A (p.Gly1444Glu)
c.3872G>A (p.Gly1291Glu)
c.3011G>A (p.Gly1004Glu)
n.4812G>A
n.4816G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049903G>CCA337779314AGRNc.4745G>C (p.Gly1582Ala)
c.4430G>C (p.Gly1477Ala)
c.4331G>C (p.Gly1444Ala)
c.3872G>C (p.Gly1291Ala)
c.3011G>C (p.Gly1004Ala)
n.4812G>C
n.4816G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1049903G=CA1143523386AGRNc.4745G= (p.Gly1582=)
c.4430G= (p.Gly1477=)
c.4331G= (p.Gly1444=)
c.3872G= (p.Gly1291=)
c.3011G= (p.Gly1004=)
n.4812G=
n.4816G=
1g.1049903G>TCA337779315AGRNc.4745G>T (p.Gly1582Val)
c.4430G>T (p.Gly1477Val)
c.4331G>T (p.Gly1444Val)
c.3872G>T (p.Gly1291Val)
c.3011G>T (p.Gly1004Val)
n.4812G>T
n.4816G>T
1g.1049904A>CCA415758695AGRNc.4746A>C (p.Gly1582=)
c.4431A>C (p.Gly1477=)
c.4332A>C (p.Gly1444=)
c.3873A>C (p.Gly1291=)
c.3012A>C (p.Gly1004=)
n.4813A>C
n.4817A>C
1g.1049904A>GCA415758696AGRNc.4746A>G (p.Gly1582=)
c.4431A>G (p.Gly1477=)
c.4332A>G (p.Gly1444=)
c.3873A>G (p.Gly1291=)
c.3012A>G (p.Gly1004=)
n.4813A>G
n.4817A>G
1g.1049904A>TCA415758694AGRNc.4746A>T (p.Gly1582=)
c.4431A>T (p.Gly1477=)
c.4332A>T (p.Gly1444=)
c.3873A>T (p.Gly1291=)
c.3012A>T (p.Gly1004=)
n.4813A>T
n.4817A>T
1g.1049905C>ACA509633AGRNc.4747C>A (p.Pro1583Thr)
c.4432C>A (p.Pro1478Thr)
c.4333C>A (p.Pro1445Thr)
c.3874C>A (p.Pro1292Thr)
c.3013C>A (p.Pro1005Thr)
n.4814C>A
n.4818C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1049905C=CA1148747331AGRNc.4747C= (p.Pro1583=)
c.4432C= (p.Pro1478=)
c.4333C= (p.Pro1445=)
c.3874C= (p.Pro1292=)
c.3013C= (p.Pro1005=)
n.4814C=
n.4818C=
1g.1049905C>GCA337779316AGRNc.4747C>G (p.Pro1583Ala)
c.4432C>G (p.Pro1478Ala)
c.4333C>G (p.Pro1445Ala)
c.3874C>G (p.Pro1292Ala)
c.3013C>G (p.Pro1005Ala)
n.4814C>G
n.4818C>G
1g.1049905C>TCA337779317AGRNc.4747C>T (p.Pro1583Ser)
c.4432C>T (p.Pro1478Ser)
c.4333C>T (p.Pro1445Ser)
c.3874C>T (p.Pro1292Ser)
c.3013C>T (p.Pro1005Ser)
n.4814C>T
n.4818C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1049906C>ACA337779320AGRNc.4748C>A (p.Pro1583Gln)
c.4433C>A (p.Pro1478Gln)
c.4334C>A (p.Pro1445Gln)
c.3875C>A (p.Pro1292Gln)
c.3014C>A (p.Pro1005Gln)
n.4815C>A
n.4819C>A
 gnomAD v4
1g.1049906C>GCA337779318AGRNc.4748C>G (p.Pro1583Arg)
c.4433C>G (p.Pro1478Arg)
c.4334C>G (p.Pro1445Arg)
c.3875C>G (p.Pro1292Arg)
c.3014C>G (p.Pro1005Arg)
n.4815C>G
n.4819C>G
1g.1049906C>TCA337779319AGRNc.4748C>T (p.Pro1583Leu)
c.4433C>T (p.Pro1478Leu)
c.4334C>T (p.Pro1445Leu)
c.3875C>T (p.Pro1292Leu)
c.3014C>T (p.Pro1005Leu)
n.4815C>T
n.4819C>T
1g.1049907A>CCA415758701AGRNc.4749A>C (p.Pro1583=)
c.4434A>C (p.Pro1478=)
c.4335A>C (p.Pro1445=)
c.3876A>C (p.Pro1292=)
c.3015A>C (p.Pro1005=)
n.4816A>C
n.4820A>C
1g.1049907A>GCA415758703AGRNc.4749A>G (p.Pro1583=)
c.4434A>G (p.Pro1478=)
c.4335A>G (p.Pro1445=)
c.3876A>G (p.Pro1292=)
c.3015A>G (p.Pro1005=)
n.4816A>G
n.4820A>G
1g.1049907A>TCA415758704AGRNc.4749A>T (p.Pro1583=)
c.4434A>T (p.Pro1478=)
c.4335A>T (p.Pro1445=)
c.3876A>T (p.Pro1292=)
c.3015A>T (p.Pro1005=)
n.4816A>T
n.4820A>T
1g.1049908A=CA1148747343AGRNc.4750A= (p.Thr1584=)
c.4435A= (p.Thr1479=)
c.4336A= (p.Thr1446=)
c.3877A= (p.Thr1293=)
c.3016A= (p.Thr1006=)
n.4817A=
n.4821A=
1g.1049908A>CCA337779321AGRNc.4750A>C (p.Thr1584Pro)
c.4435A>C (p.Thr1479Pro)
c.4336A>C (p.Thr1446Pro)
c.3877A>C (p.Thr1293Pro)
c.3016A>C (p.Thr1006Pro)
n.4817A>C
n.4821A>C
 dbSNP
1g.1049908A>GCA509634AGRNc.4750A>G (p.Thr1584Ala)
c.4435A>G (p.Thr1479Ala)
c.4336A>G (p.Thr1446Ala)
c.3877A>G (p.Thr1293Ala)
c.3016A>G (p.Thr1006Ala)
n.4817A>G
n.4821A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1049908A>TCA337779322AGRNc.4750A>T (p.Thr1584Ser)
c.4435A>T (p.Thr1479Ser)
c.4336A>T (p.Thr1446Ser)
c.3877A>T (p.Thr1293Ser)
c.3016A>T (p.Thr1006Ser)
n.4817A>T
n.4821A>T
1g.1049909C>ACA337779323AGRNc.4751C>A (p.Thr1584Asn)
c.4436C>A (p.Thr1479Asn)
c.4337C>A (p.Thr1446Asn)
c.3878C>A (p.Thr1293Asn)
c.3017C>A (p.Thr1006Asn)
n.4818C>A
n.4822C>A
 gnomAD v4
1g.1049909C=CA1148747345AGRNc.4751C= (p.Thr1584=)
c.4436C= (p.Thr1479=)
c.4337C= (p.Thr1446=)
c.3878C= (p.Thr1293=)
c.3017C= (p.Thr1006=)
n.4818C=
n.4822C=
1g.1049909C>GCA337779324AGRNc.4751C>G (p.Thr1584Ser)
c.4436C>G (p.Thr1479Ser)
c.4337C>G (p.Thr1446Ser)
c.3878C>G (p.Thr1293Ser)
c.3017C>G (p.Thr1006Ser)
n.4818C>G
n.4822C>G
1g.1049909C>TCA509635AGRNc.4751C>T (p.Thr1584Ile)
c.4436C>T (p.Thr1479Ile)
c.4337C>T (p.Thr1446Ile)
c.3878C>T (p.Thr1293Ile)
c.3017C>T (p.Thr1006Ile)
n.4818C>T
n.4822C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049910C>ACA415758711AGRNc.4752C>A (p.Thr1584=)
c.4437C>A (p.Thr1479=)
c.4338C>A (p.Thr1446=)
c.3879C>A (p.Thr1293=)
c.3018C>A (p.Thr1006=)
n.4819C>A
n.4823C>A
1g.1049910C=CA1148747346AGRNc.4752C= (p.Thr1584=)
c.4437C= (p.Thr1479=)
c.4338C= (p.Thr1446=)
c.3879C= (p.Thr1293=)
c.3018C= (p.Thr1006=)
n.4819C=
n.4823C=
1g.1049910C>GCA415758713AGRNc.4752C>G (p.Thr1584=)
c.4437C>G (p.Thr1479=)
c.4338C>G (p.Thr1446=)
c.3879C>G (p.Thr1293=)
c.3018C>G (p.Thr1006=)
n.4819C>G
n.4823C>G
1g.1049910C>TCA415758712AGRNc.4752C>T (p.Thr1584=)
c.4437C>T (p.Thr1479=)
c.4338C>T (p.Thr1446=)
c.3879C>T (p.Thr1293=)
c.3018C>T (p.Thr1006=)
n.4819C>T
n.4823C>T
 ClinVar dbSNP gnomAD v4 COSMIC
1g.1049911T>ACA337779325AGRNc.4753T>A (p.Cys1585Ser)
c.4438T>A (p.Cys1480Ser)
c.4339T>A (p.Cys1447Ser)
c.3880T>A (p.Cys1294Ser)
c.3019T>A (p.Cys1007Ser)
n.4820T>A
n.4824T>A
1g.1049911T>CCA337779326AGRNc.4753T>C (p.Cys1585Arg)
c.4438T>C (p.Cys1480Arg)
c.4339T>C (p.Cys1447Arg)
c.3880T>C (p.Cys1294Arg)
c.3019T>C (p.Cys1007Arg)
n.4820T>C
n.4824T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1049911T>GCA337779327AGRNc.4753T>G (p.Cys1585Gly)
c.4438T>G (p.Cys1480Gly)
c.4339T>G (p.Cys1447Gly)
c.3880T>G (p.Cys1294Gly)
c.3019T>G (p.Cys1007Gly)
n.4820T>G
n.4824T>G
1g.1049911T=CA1148747351AGRNc.4753T= (p.Cys1585=)
c.4438T= (p.Cys1480=)
c.4339T= (p.Cys1447=)
c.3880T= (p.Cys1294=)
c.3019T= (p.Cys1007=)
n.4820T=
n.4824T=
1g.1049912G>ACA509636AGRNc.4754G>A (p.Cys1585Tyr)
c.4439G>A (p.Cys1480Tyr)
c.4340G>A (p.Cys1447Tyr)
c.3881G>A (p.Cys1294Tyr)
c.3020G>A (p.Cys1007Tyr)
n.4821G>A
n.4825G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1049912G>CCA337779328AGRNc.4754G>C (p.Cys1585Ser)
c.4439G>C (p.Cys1480Ser)
c.4340G>C (p.Cys1447Ser)
c.3881G>C (p.Cys1294Ser)
c.3020G>C (p.Cys1007Ser)
n.4821G>C
n.4825G>C
1g.1049912G=CA1148747361AGRNc.4754G= (p.Cys1585=)
c.4439G= (p.Cys1480=)
c.4340G= (p.Cys1447=)
c.3881G= (p.Cys1294=)
c.3020G= (p.Cys1007=)
n.4821G=
n.4825G=
1g.1049912G>TCA337779329AGRNc.4754G>T (p.Cys1585Phe)
c.4439G>T (p.Cys1480Phe)
c.4340G>T (p.Cys1447Phe)
c.3881G>T (p.Cys1294Phe)
c.3020G>T (p.Cys1007Phe)
n.4821G>T
n.4825G>T
1g.1049913T>ACA337779331AGRNc.4755T>A (p.Cys1585Ter)
c.4440T>A (p.Cys1480Ter)
c.4341T>A (p.Cys1447Ter)
c.3882T>A (p.Cys1294Ter)
c.3021T>A (p.Cys1007Ter)
n.4822T>A
n.4826T>A
1g.1049913T>CCA415758716AGRNc.4755T>C (p.Cys1585=)
c.4440T>C (p.Cys1480=)
c.4341T>C (p.Cys1447=)
c.3882T>C (p.Cys1294=)
c.3021T>C (p.Cys1007=)
n.4822T>C
n.4826T>C
1g.1049913T>GCA337779330AGRNc.4755T>G (p.Cys1585Trp)
c.4440T>G (p.Cys1480Trp)
c.4341T>G (p.Cys1447Trp)
c.3882T>G (p.Cys1294Trp)
c.3021T>G (p.Cys1007Trp)
n.4822T>G
n.4826T>G
1g.1049914G>ACA337779332AGRNc.4756G>A (p.Ala1586Thr)
c.4441G>A (p.Ala1481Thr)
c.4342G>A (p.Ala1448Thr)
c.3883G>A (p.Ala1295Thr)
c.3022G>A (p.Ala1008Thr)
n.4823G>A
n.4827G>A
1g.1049914G>CCA337779333AGRNc.4756G>C (p.Ala1586Pro)
c.4441G>C (p.Ala1481Pro)
c.4342G>C (p.Ala1448Pro)
c.3883G>C (p.Ala1295Pro)
c.3022G>C (p.Ala1008Pro)
n.4823G>C
n.4827G>C
1g.1049914G>TCA337779334AGRNc.4756G>T (p.Ala1586Ser)
c.4441G>T (p.Ala1481Ser)
c.4342G>T (p.Ala1448Ser)
c.3883G>T (p.Ala1295Ser)
c.3022G>T (p.Ala1008Ser)
n.4823G>T
n.4827G>T
 dbSNP
1g.1049915C>ACA337779335AGRNc.4757C>A (p.Ala1586Asp)
c.4442C>A (p.Ala1481Asp)
c.4343C>A (p.Ala1448Asp)
c.3884C>A (p.Ala1295Asp)
c.3023C>A (p.Ala1008Asp)
n.4824C>A
n.4828C>A
1g.1049915C=CA1148747365AGRNc.4757C= (p.Ala1586=)
c.4442C= (p.Ala1481=)
c.4343C= (p.Ala1448=)
c.3884C= (p.Ala1295=)
c.3023C= (p.Ala1008=)
n.4824C=
n.4828C=
1g.1049915C>GCA337779336AGRNc.4757C>G (p.Ala1586Gly)
c.4442C>G (p.Ala1481Gly)
c.4343C>G (p.Ala1448Gly)
c.3884C>G (p.Ala1295Gly)
c.3023C>G (p.Ala1008Gly)
n.4824C>G
n.4828C>G
1g.1049915C>TCA337779337AGRNc.4757C>T (p.Ala1586Val)
c.4442C>T (p.Ala1481Val)
c.4343C>T (p.Ala1448Val)
c.3884C>T (p.Ala1295Val)
c.3023C>T (p.Ala1008Val)
n.4824C>T
n.4828C>T
 ClinVar dbSNP gnomAD v4
1g.1049916C>ACA415758720AGRNc.4758C>A (p.Ala1586=)
c.4443C>A (p.Ala1481=)
c.4344C>A (p.Ala1448=)
c.3885C>A (p.Ala1295=)
c.3024C>A (p.Ala1008=)
n.4825C>A
n.4829C>A
 gnomAD v4
1g.1049916C=CA1141594433AGRNc.4758C= (p.Ala1586=)
c.4443C= (p.Ala1481=)
c.4344C= (p.Ala1448=)
c.3885C= (p.Ala1295=)
c.3024C= (p.Ala1008=)
n.4825C=
n.4829C=
1g.1049916C>GCA509637AGRNc.4758C>G (p.Ala1586=)
c.4443C>G (p.Ala1481=)
c.4344C>G (p.Ala1448=)
c.3885C>G (p.Ala1295=)
c.3024C>G (p.Ala1008=)
n.4825C>G
n.4829C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049916C>TCA509638AGRNc.4758C>T (p.Ala1586=)
c.4443C>T (p.Ala1481=)
c.4344C>T (p.Ala1448=)
c.3885C>T (p.Ala1295=)
c.3024C>T (p.Ala1008=)
n.4825C>T
n.4829C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049917G>ACA509639AGRNc.4759G>A (p.Asp1587Asn)
c.4444G>A (p.Asp1482Asn)
c.4345G>A (p.Asp1449Asn)
c.3886G>A (p.Asp1296Asn)
c.3025G>A (p.Asp1009Asn)
n.4826G>A
n.4830G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049917G>CCA337779338AGRNc.4759G>C (p.Asp1587His)
c.4444G>C (p.Asp1482His)
c.4345G>C (p.Asp1449His)
c.3886G>C (p.Asp1296His)
c.3025G>C (p.Asp1009His)
n.4826G>C
n.4830G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1049917G=CA1148747399AGRNc.4759G= (p.Asp1587=)
c.4444G= (p.Asp1482=)
c.4345G= (p.Asp1449=)
c.3886G= (p.Asp1296=)
c.3025G= (p.Asp1009=)
n.4826G=
n.4830G=
1g.1049917G>TCA16700783AGRNc.4759G>T (p.Asp1587Tyr)
c.4444G>T (p.Asp1482Tyr)
c.4345G>T (p.Asp1449Tyr)
c.3886G>T (p.Asp1296Tyr)
c.3025G>T (p.Asp1009Tyr)
n.4826G>T
n.4830G>T
 dbSNP
1g.1049918A>CCA337779339AGRNc.4760A>C (p.Asp1587Ala)
c.4445A>C (p.Asp1482Ala)
c.4346A>C (p.Asp1449Ala)
c.3887A>C (p.Asp1296Ala)
c.3026A>C (p.Asp1009Ala)
n.4827A>C
n.4831A>C
1g.1049918A>GCA337779340AGRNc.4760A>G (p.Asp1587Gly)
c.4445A>G (p.Asp1482Gly)
c.4346A>G (p.Asp1449Gly)
c.3887A>G (p.Asp1296Gly)
c.3026A>G (p.Asp1009Gly)
n.4827A>G
n.4831A>G
1g.1049918A>TCA337779341AGRNc.4760A>T (p.Asp1587Val)
c.4445A>T (p.Asp1482Val)
c.4346A>T (p.Asp1449Val)
c.3887A>T (p.Asp1296Val)
c.3026A>T (p.Asp1009Val)
n.4827A>T
n.4831A>T
1g.1049919T>ACA337779343AGRNc.4761T>A (p.Asp1587Glu)
c.4446T>A (p.Asp1482Glu)
c.4347T>A (p.Asp1449Glu)
c.3888T>A (p.Asp1296Glu)
c.3027T>A (p.Asp1009Glu)
n.4828T>A
n.4832T>A
 dbSNP gnomAD v3 gnomAD v4
1g.1049919T>CCA415758728AGRNc.4761T>C (p.Asp1587=)
c.4446T>C (p.Asp1482=)
c.4347T>C (p.Asp1449=)
c.3888T>C (p.Asp1296=)
c.3027T>C (p.Asp1009=)
n.4828T>C
n.4832T>C
1g.1049919T>GCA337779342AGRNc.4761T>G (p.Asp1587Glu)
c.4446T>G (p.Asp1482Glu)
c.4347T>G (p.Asp1449Glu)
c.3888T>G (p.Asp1296Glu)
c.3027T>G (p.Asp1009Glu)
n.4828T>G
n.4832T>G
1g.1049920G>ACA337779344AGRNc.4762G>A (p.Glu1588Lys)
c.4447G>A (p.Glu1483Lys)
c.4348G>A (p.Glu1450Lys)
c.3889G>A (p.Glu1297Lys)
c.3028G>A (p.Glu1010Lys)
n.4829G>A
n.4833G>A
1g.1049920G>CCA337779345AGRNc.4762G>C (p.Glu1588Gln)
c.4447G>C (p.Glu1483Gln)
c.4348G>C (p.Glu1450Gln)
c.3889G>C (p.Glu1297Gln)
c.3028G>C (p.Glu1010Gln)
n.4829G>C
n.4833G>C
1g.1049920G>TCA337779346AGRNc.4762G>T (p.Glu1588Ter)
c.4447G>T (p.Glu1483Ter)
c.4348G>T (p.Glu1450Ter)
c.3889G>T (p.Glu1297Ter)
c.3028G>T (p.Glu1010Ter)
n.4829G>T
n.4833G>T
1g.1049921A=CA1148747411AGRNc.4763A= (p.Glu1588=)
c.4448A= (p.Glu1483=)
c.4349A= (p.Glu1450=)
c.3890A= (p.Glu1297=)
c.3029A= (p.Glu1010=)
n.4830A=
n.4834A=
1g.1049921A>CCA337779347AGRNc.4763A>C (p.Glu1588Ala)
c.4448A>C (p.Glu1483Ala)
c.4349A>C (p.Glu1450Ala)
c.3890A>C (p.Glu1297Ala)
c.3029A>C (p.Glu1010Ala)
n.4830A>C
n.4834A>C
 dbSNP gnomAD v3 gnomAD v4
1g.1049921A>GCA337779348AGRNc.4763A>G (p.Glu1588Gly)
c.4448A>G (p.Glu1483Gly)
c.4349A>G (p.Glu1450Gly)
c.3890A>G (p.Glu1297Gly)
c.3029A>G (p.Glu1010Gly)
n.4830A>G
n.4834A>G
1g.1049921A>TCA337779349AGRNc.4763A>T (p.Glu1588Val)
c.4448A>T (p.Glu1483Val)
c.4349A>T (p.Glu1450Val)
c.3890A>T (p.Glu1297Val)
c.3029A>T (p.Glu1010Val)
n.4830A>T
n.4834A>T
1g.1049922G>ACA415758732AGRNc.4764G>A (p.Glu1588=)
c.4449G>A (p.Glu1483=)
c.4350G>A (p.Glu1450=)
c.3891G>A (p.Glu1297=)
c.3030G>A (p.Glu1010=)
n.4831G>A
n.4835G>A
 gnomAD v4
1g.1049922G>CCA337779351AGRNc.4764G>C (p.Glu1588Asp)
c.4449G>C (p.Glu1483Asp)
c.4350G>C (p.Glu1450Asp)
c.3891G>C (p.Glu1297Asp)
c.3030G>C (p.Glu1010Asp)
n.4831G>C
n.4835G>C
1g.1049922G>TCA337779350AGRNc.4764G>T (p.Glu1588Asp)
c.4449G>T (p.Glu1483Asp)
c.4350G>T (p.Glu1450Asp)
c.3891G>T (p.Glu1297Asp)
c.3030G>T (p.Glu1010Asp)
n.4831G>T
n.4835G>T
1g.1049923A>CCA337779352AGRNc.4765A>C (p.Lys1589Gln)
c.4450A>C (p.Lys1484Gln)
c.4351A>C (p.Lys1451Gln)
c.3892A>C (p.Lys1298Gln)
c.3031A>C (p.Lys1011Gln)
n.4832A>C
n.4836A>C
1g.1049923A>GCA337779353AGRNc.4765A>G (p.Lys1589Glu)
c.4450A>G (p.Lys1484Glu)
c.4351A>G (p.Lys1451Glu)
c.3892A>G (p.Lys1298Glu)
c.3031A>G (p.Lys1011Glu)
n.4832A>G
n.4836A>G
1g.1049923A>TCA337779354AGRNc.4765A>T (p.Lys1589Ter)
c.4450A>T (p.Lys1484Ter)
c.4351A>T (p.Lys1451Ter)
c.3892A>T (p.Lys1298Ter)
c.3031A>T (p.Lys1011Ter)
n.4832A>T
n.4836A>T
1g.1049923_1049924delCA2642497388AGRNc.4765_4766del (p.Lys1589GlufsTer?)
c.4450_4451del (p.Lys1484GlufsTer?)
c.4351_4352del (p.Lys1451GlufsTer?)
c.3892_3893del (p.Lys1298GlufsTer?)
c.3031_3032del (p.Lys1011GlufsTer?)
n.4832_4833del
n.4836_4837del
 gnomAD v4
1g.1049924A>CCA337779355AGRNc.4766A>C (p.Lys1589Thr)
c.4451A>C (p.Lys1484Thr)
c.4352A>C (p.Lys1451Thr)
c.3893A>C (p.Lys1298Thr)
c.3032A>C (p.Lys1011Thr)
n.4833A>C
n.4837A>C
1g.1049924A>GCA337779356AGRNc.4766A>G (p.Lys1589Arg)
c.4451A>G (p.Lys1484Arg)
c.4352A>G (p.Lys1451Arg)
c.3893A>G (p.Lys1298Arg)
c.3032A>G (p.Lys1011Arg)
n.4833A>G
n.4837A>G
1g.1049924A>TCA337779357AGRNc.4766A>T (p.Lys1589Met)
c.4451A>T (p.Lys1484Met)
c.4352A>T (p.Lys1451Met)
c.3893A>T (p.Lys1298Met)
c.3032A>T (p.Lys1011Met)
n.4833A>T
n.4837A>T
1g.1049925G>ACA509640AGRNc.4767G>A (p.Lys1589=)
c.4452G>A (p.Lys1484=)
c.4353G>A (p.Lys1451=)
c.3894G>A (p.Lys1298=)
c.3033G>A (p.Lys1011=)
n.4834G>A
n.4838G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049925G>CCA337779359AGRNc.4767G>C (p.Lys1589Asn)
c.4452G>C (p.Lys1484Asn)
c.4353G>C (p.Lys1451Asn)
c.3894G>C (p.Lys1298Asn)
c.3033G>C (p.Lys1011Asn)
n.4834G>C
n.4838G>C
1g.1049925G=CA1144113680AGRNc.4767G= (p.Lys1589=)
c.4452G= (p.Lys1484=)
c.4353G= (p.Lys1451=)
c.3894G= (p.Lys1298=)
c.3033G= (p.Lys1011=)
n.4834G=
n.4838G=
1g.1049925G>TCA337779358AGRNc.4767G>T (p.Lys1589Asn)
c.4452G>T (p.Lys1484Asn)
c.4353G>T (p.Lys1451Asn)
c.3894G>T (p.Lys1298Asn)
c.3033G>T (p.Lys1011Asn)
n.4834G>T
n.4838G>T
1g.1049926A=CA1148747432AGRNc.4768A= (p.Ser1590=)
c.4453A= (p.Ser1485=)
c.4354A= (p.Ser1452=)
c.3895A= (p.Ser1299=)
c.3034A= (p.Ser1012=)
n.4835A=
n.4839A=
1g.1049926A>CCA337779360AGRNc.4768A>C (p.Ser1590Arg)
c.4453A>C (p.Ser1485Arg)
c.4354A>C (p.Ser1452Arg)
c.3895A>C (p.Ser1299Arg)
c.3034A>C (p.Ser1012Arg)
n.4835A>C
n.4839A>C
1g.1049926A>GCA337779362AGRNc.4768A>G (p.Ser1590Gly)
c.4453A>G (p.Ser1485Gly)
c.4354A>G (p.Ser1452Gly)
c.3895A>G (p.Ser1299Gly)
c.3034A>G (p.Ser1012Gly)
n.4835A>G
n.4839A>G
 dbSNP gnomAD v3 gnomAD v4
1g.1049926A>TCA337779361AGRNc.4768A>T (p.Ser1590Cys)
c.4453A>T (p.Ser1485Cys)
c.4354A>T (p.Ser1452Cys)
c.3895A>T (p.Ser1299Cys)
c.3034A>T (p.Ser1012Cys)
n.4835A>T
n.4839A>T
1g.1049927G>ACA337779363AGRNc.4769G>A (p.Ser1590Asn)
c.4454G>A (p.Ser1485Asn)
c.4355G>A (p.Ser1452Asn)
c.3896G>A (p.Ser1299Asn)
c.3035G>A (p.Ser1012Asn)
n.4836G>A
n.4840G>A
1g.1049927G>CCA337779364AGRNc.4769G>C (p.Ser1590Thr)
c.4454G>C (p.Ser1485Thr)
c.4355G>C (p.Ser1452Thr)
c.3896G>C (p.Ser1299Thr)
c.3035G>C (p.Ser1012Thr)
n.4836G>C
n.4840G>C
 ClinVar dbSNP gnomAD v4
1g.1049927G=CA1148747466AGRNc.4769G= (p.Ser1590=)
c.4454G= (p.Ser1485=)
c.4355G= (p.Ser1452=)
c.3896G= (p.Ser1299=)
c.3035G= (p.Ser1012=)
n.4836G=
n.4840G=
1g.1049927G>TCA337779365AGRNc.4769G>T (p.Ser1590Ile)
c.4454G>T (p.Ser1485Ile)
c.4355G>T (p.Ser1452Ile)
c.3896G>T (p.Ser1299Ile)
c.3035G>T (p.Ser1012Ile)
n.4836G>T
n.4840G>T
1g.1049927_1049942delinsGCCCCTGCCAGCCCAACA1148747445AGRNc.4769_4784delinsGCCCCTGCCAGCCCAA (p.Ser1590=)
c.4454_4469delinsGCCCCTGCCAGCCCAA (p.Ser1485=)
c.4355_4370delinsGCCCCTGCCAGCCCAA (p.Ser1452=)
c.3896_3911delinsGCCCCTGCCAGCCCAA (p.Ser1299=)
c.3035_3050delinsGCCCCTGCCAGCCCAA (p.Ser1012=)
n.4836_4851delinsGCCCCTGCCAGCCCAA
n.4840_4855delinsGCCCCTGCCAGCCCAA
1g.1049928C>ACA337779367AGRNc.4770C>A (p.Ser1590Arg)
c.4455C>A (p.Ser1485Arg)
c.4356C>A (p.Ser1452Arg)
c.3897C>A (p.Ser1299Arg)
c.3036C>A (p.Ser1012Arg)
n.4837C>A
n.4841C>A
 ClinVar dbSNP gnomAD v4
1g.1049928C=CA1148747479AGRNc.4770C= (p.Ser1590=)
c.4455C= (p.Ser1485=)
c.4356C= (p.Ser1452=)
c.3897C= (p.Ser1299=)
c.3036C= (p.Ser1012=)
n.4837C=
n.4841C=
1g.1049928C>GCA337779366AGRNc.4770C>G (p.Ser1590Arg)
c.4455C>G (p.Ser1485Arg)
c.4356C>G (p.Ser1452Arg)
c.3897C>G (p.Ser1299Arg)
c.3036C>G (p.Ser1012Arg)
n.4837C>G
n.4841C>G
1g.1049928C>TCA415758741AGRNc.4770C>T (p.Ser1590=)
c.4455C>T (p.Ser1485=)
c.4356C>T (p.Ser1452=)
c.3897C>T (p.Ser1299=)
c.3036C>T (p.Ser1012=)
n.4837C>T
n.4841C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.1049937_1049951dupCA520620530AGRNc.4779_4793dup (p.Cys1597_His1598insGlnProAsnProCys)
c.4464_4478dup (p.Cys1492_His1493insGlnProAsnProCys)
c.4365_4379dup (p.Cys1459_His1460insGlnProAsnProCys)
c.3906_3920dup (p.Cys1306_His1307insGlnProAsnProCys)
c.3045_3059dup (p.Cys1019_His1020insGlnProAsnProCys)
n.4846_4860dup
n.4850_4864dup
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1049937_1049951delCA509641AGRNc.4779_4793del (p.Gln1593_Cys1597del)
c.4464_4478del (p.Gln1488_Cys1492del)
c.4365_4379del (p.Gln1455_Cys1459del)
c.3906_3920del (p.Gln1302_Cys1306del)
c.3045_3059del (p.Gln1015_Cys1019del)
n.4846_4860del
n.4850_4864del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049929C>ACA337779368AGRNc.4771C>A (p.Pro1591Thr)
c.4456C>A (p.Pro1486Thr)
c.4357C>A (p.Pro1453Thr)
c.3898C>A (p.Pro1300Thr)
c.3037C>A (p.Pro1013Thr)
n.4838C>A
n.4842C>A
1g.1049929C=CA1148747487AGRNc.4771C= (p.Pro1591=)
c.4456C= (p.Pro1486=)
c.4357C= (p.Pro1453=)
c.3898C= (p.Pro1300=)
c.3037C= (p.Pro1013=)
n.4838C=
n.4842C=
1g.1049929C>GCA337779369AGRNc.4771C>G (p.Pro1591Ala)
c.4456C>G (p.Pro1486Ala)
c.4357C>G (p.Pro1453Ala)
c.3898C>G (p.Pro1300Ala)
c.3037C>G (p.Pro1013Ala)
n.4838C>G
n.4842C>G
 ClinVar dbSNP gnomAD v4
1g.1049929C>TCA337779370AGRNc.4771C>T (p.Pro1591Ser)
c.4456C>T (p.Pro1486Ser)
c.4357C>T (p.Pro1453Ser)
c.3898C>T (p.Pro1300Ser)
c.3037C>T (p.Pro1013Ser)
n.4838C>T
n.4842C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1049936_1049968delCA2742134937AGRNc.4778_4810del (p.Gln1593_Cys1603del)
c.4463_4495del (p.Gln1488_Cys1498del)
c.4364_4396del (p.Gln1455_Cys1465del)
c.3905_3937del (p.Gln1302_Cys1312del)
c.3044_3076del (p.Gln1015_Cys1025del)
n.4845_4877del
n.4849_4881del
1g.1049930C>ACA337779371AGRNc.4772C>A (p.Pro1591His)
c.4457C>A (p.Pro1486His)
c.4358C>A (p.Pro1453His)
c.3899C>A (p.Pro1300His)
c.3038C>A (p.Pro1013His)
n.4839C>A
n.4843C>A
1g.1049930C=CA1148747493AGRNc.4772C= (p.Pro1591=)
c.4457C= (p.Pro1486=)
c.4358C= (p.Pro1453=)
c.3899C= (p.Pro1300=)
c.3038C= (p.Pro1013=)
n.4839C=
n.4843C=
1g.1049930C>GCA337779372AGRNc.4772C>G (p.Pro1591Arg)
c.4457C>G (p.Pro1486Arg)
c.4358C>G (p.Pro1453Arg)
c.3899C>G (p.Pro1300Arg)
c.3038C>G (p.Pro1013Arg)
n.4839C>G
n.4843C>G
1g.1049930C>TCA337779373AGRNc.4772C>T (p.Pro1591Leu)
c.4457C>T (p.Pro1486Leu)
c.4358C>T (p.Pro1453Leu)
c.3899C>T (p.Pro1300Leu)
c.3038C>T (p.Pro1013Leu)
n.4839C>T
n.4843C>T
 dbSNP gnomAD v2 gnomAD v4
1g.1049931C>ACA415758747AGRNc.4773C>A (p.Pro1591=)
c.4458C>A (p.Pro1486=)
c.4359C>A (p.Pro1453=)
c.3900C>A (p.Pro1300=)
c.3039C>A (p.Pro1013=)
n.4840C>A
n.4844C>A
1g.1049931C=CA1148747497AGRNc.4773C= (p.Pro1591=)
c.4458C= (p.Pro1486=)
c.4359C= (p.Pro1453=)
c.3900C= (p.Pro1300=)
c.3039C= (p.Pro1013=)
n.4840C=
n.4844C=
1g.1049931C>GCA415758748AGRNc.4773C>G (p.Pro1591=)
c.4458C>G (p.Pro1486=)
c.4359C>G (p.Pro1453=)
c.3900C>G (p.Pro1300=)
c.3039C>G (p.Pro1013=)
n.4840C>G
n.4844C>G
1g.1049931C>TCA16700789AGRNc.4773C>T (p.Pro1591=)
c.4458C>T (p.Pro1486=)
c.4359C>T (p.Pro1453=)
c.3900C>T (p.Pro1300=)
c.3039C>T (p.Pro1013=)
n.4840C>T
n.4844C>T
 ClinVar dbSNP gnomAD v4
1g.1049932T>ACA337779374AGRNc.4774T>A (p.Cys1592Ser)
c.4459T>A (p.Cys1487Ser)
c.4360T>A (p.Cys1454Ser)
c.3901T>A (p.Cys1301Ser)
c.3040T>A (p.Cys1014Ser)
n.4841T>A
n.4845T>A
1g.1049932T>CCA337779375AGRNc.4774T>C (p.Cys1592Arg)
c.4459T>C (p.Cys1487Arg)
c.4360T>C (p.Cys1454Arg)
c.3901T>C (p.Cys1301Arg)
c.3040T>C (p.Cys1014Arg)
n.4841T>C
n.4845T>C
 dbSNP gnomAD v2 gnomAD v4
1g.1049932T>GCA337779376AGRNc.4774T>G (p.Cys1592Gly)
c.4459T>G (p.Cys1487Gly)
c.4360T>G (p.Cys1454Gly)
c.3901T>G (p.Cys1301Gly)
c.3040T>G (p.Cys1014Gly)
n.4841T>G
n.4845T>G
 gnomAD v4
1g.1049932T=CA1148747504AGRNc.4774T= (p.Cys1592=)
c.4459T= (p.Cys1487=)
c.4360T= (p.Cys1454=)
c.3901T= (p.Cys1301=)
c.3040T= (p.Cys1014=)
n.4841T=
n.4845T=
1g.1049933G>ACA337779377AGRNc.4775G>A (p.Cys1592Tyr)
c.4460G>A (p.Cys1487Tyr)
c.4361G>A (p.Cys1454Tyr)
c.3902G>A (p.Cys1301Tyr)
c.3041G>A (p.Cys1014Tyr)
n.4842G>A
n.4846G>A
1g.1049933G>CCA337779379AGRNc.4775G>C (p.Cys1592Ser)
c.4460G>C (p.Cys1487Ser)
c.4361G>C (p.Cys1454Ser)
c.3902G>C (p.Cys1301Ser)
c.3041G>C (p.Cys1014Ser)
n.4842G>C
n.4846G>C
1g.1049933G>TCA337779378AGRNc.4775G>T (p.Cys1592Phe)
c.4460G>T (p.Cys1487Phe)
c.4361G>T (p.Cys1454Phe)
c.3902G>T (p.Cys1301Phe)
c.3041G>T (p.Cys1014Phe)
n.4842G>T
n.4846G>T
1g.1049934C>ACA337779380AGRNc.4776C>A (p.Cys1592Ter)
c.4461C>A (p.Cys1487Ter)
c.4362C>A (p.Cys1454Ter)
c.3903C>A (p.Cys1301Ter)
c.3042C>A (p.Cys1014Ter)
n.4843C>A
n.4847C>A
1g.1049934C=CA1148747511AGRNc.4776C= (p.Cys1592=)
c.4461C= (p.Cys1487=)
c.4362C= (p.Cys1454=)
c.3903C= (p.Cys1301=)
c.3042C= (p.Cys1014=)
n.4843C=
n.4847C=
1g.1049934C>GCA337779381AGRNc.4776C>G (p.Cys1592Trp)
c.4461C>G (p.Cys1487Trp)
c.4362C>G (p.Cys1454Trp)
c.3903C>G (p.Cys1301Trp)
c.3042C>G (p.Cys1014Trp)
n.4843C>G
n.4847C>G
 dbSNP
1g.1049934C>TCA415758752AGRNc.4776C>T (p.Cys1592=)
c.4461C>T (p.Cys1487=)
c.4362C>T (p.Cys1454=)
c.3903C>T (p.Cys1301=)
c.3042C>T (p.Cys1014=)
n.4843C>T
n.4847C>T
 gnomAD v4
1g.1049935C>ACA337779382AGRNc.4777C>A (p.Gln1593Lys)
c.4462C>A (p.Gln1488Lys)
c.4363C>A (p.Gln1455Lys)
c.3904C>A (p.Gln1302Lys)
c.3043C>A (p.Gln1015Lys)
n.4844C>A
n.4848C>A
1g.1049935C>GCA337779383AGRNc.4777C>G (p.Gln1593Glu)
c.4462C>G (p.Gln1488Glu)
c.4363C>G (p.Gln1455Glu)
c.3904C>G (p.Gln1302Glu)
c.3043C>G (p.Gln1015Glu)
n.4844C>G
n.4848C>G
1g.1049935C>TCA337779384AGRNc.4777C>T (p.Gln1593Ter)
c.4462C>T (p.Gln1488Ter)
c.4363C>T (p.Gln1455Ter)
c.3904C>T (p.Gln1302Ter)
c.3043C>T (p.Gln1015Ter)
n.4844C>T
n.4848C>T
1g.1049936A=CA1148747518AGRNc.4778A= (p.Gln1593=)
c.4463A= (p.Gln1488=)
c.4364A= (p.Gln1455=)
c.3905A= (p.Gln1302=)
c.3044A= (p.Gln1015=)
n.4845A=
n.4849A=
1g.1049936A>CCA337779385AGRNc.4778A>C (p.Gln1593Pro)
c.4463A>C (p.Gln1488Pro)
c.4364A>C (p.Gln1455Pro)
c.3905A>C (p.Gln1302Pro)
c.3044A>C (p.Gln1015Pro)
n.4845A>C
n.4849A>C
1g.1049936A>GCA337779386AGRNc.4778A>G (p.Gln1593Arg)
c.4463A>G (p.Gln1488Arg)
c.4364A>G (p.Gln1455Arg)
c.3905A>G (p.Gln1302Arg)
c.3044A>G (p.Gln1015Arg)
n.4845A>G
n.4849A>G
1g.1049936A>TCA337779387AGRNc.4778A>T (p.Gln1593Leu)
c.4463A>T (p.Gln1488Leu)
c.4364A>T (p.Gln1455Leu)
c.3905A>T (p.Gln1302Leu)
c.3044A>T (p.Gln1015Leu)
n.4845A>T
n.4849A>T
 dbSNP gnomAD v3 gnomAD v4
1g.1049937G>ACA415758753AGRNc.4779G>A (p.Gln1593=)
c.4464G>A (p.Gln1488=)
c.4365G>A (p.Gln1455=)
c.3906G>A (p.Gln1302=)
c.3045G>A (p.Gln1015=)
n.4846G>A
n.4850G>A
 gnomAD v4
1g.1049937G>CCA337779388AGRNc.4779G>C (p.Gln1593His)
c.4464G>C (p.Gln1488His)
c.4365G>C (p.Gln1455His)
c.3906G>C (p.Gln1302His)
c.3045G>C (p.Gln1015His)
n.4846G>C
n.4850G>C
1g.1049937G>TCA337779389AGRNc.4779G>T (p.Gln1593His)
c.4464G>T (p.Gln1488His)
c.4365G>T (p.Gln1455His)
c.3906G>T (p.Gln1302His)
c.3045G>T (p.Gln1015His)
n.4846G>T
n.4850G>T
1g.1049938C>ACA337779390AGRNc.4780C>A (p.Pro1594Thr)
c.4465C>A (p.Pro1489Thr)
c.4366C>A (p.Pro1456Thr)
c.3907C>A (p.Pro1303Thr)
c.3046C>A (p.Pro1016Thr)
n.4847C>A
n.4851C>A
1g.1049938C>GCA337779392AGRNc.4780C>G (p.Pro1594Ala)
c.4465C>G (p.Pro1489Ala)
c.4366C>G (p.Pro1456Ala)
c.3907C>G (p.Pro1303Ala)
c.3046C>G (p.Pro1016Ala)
n.4847C>G
n.4851C>G
1g.1049938C>TCA337779391AGRNc.4780C>T (p.Pro1594Ser)
c.4465C>T (p.Pro1489Ser)
c.4366C>T (p.Pro1456Ser)
c.3907C>T (p.Pro1303Ser)
c.3046C>T (p.Pro1016Ser)
n.4847C>T
n.4851C>T
1g.1049939C>ACA337779393AGRNc.4781C>A (p.Pro1594His)
c.4466C>A (p.Pro1489His)
c.4367C>A (p.Pro1456His)
c.3908C>A (p.Pro1303His)
c.3047C>A (p.Pro1016His)
n.4848C>A
n.4852C>A
1g.1049939C>GCA337779394AGRNc.4781C>G (p.Pro1594Arg)
c.4466C>G (p.Pro1489Arg)
c.4367C>G (p.Pro1456Arg)
c.3908C>G (p.Pro1303Arg)
c.3047C>G (p.Pro1016Arg)
n.4848C>G
n.4852C>G
1g.1049939C>TCA337779395AGRNc.4781C>T (p.Pro1594Leu)
c.4466C>T (p.Pro1489Leu)
c.4367C>T (p.Pro1456Leu)
c.3908C>T (p.Pro1303Leu)
c.3047C>T (p.Pro1016Leu)
n.4848C>T
n.4852C>T
1g.1049940C>ACA415758757AGRNc.4782C>A (p.Pro1594=)
c.4467C>A (p.Pro1489=)
c.4368C>A (p.Pro1456=)
c.3909C>A (p.Pro1303=)
c.3048C>A (p.Pro1016=)
n.4849C>A
n.4853C>A
 gnomAD v4
1g.1049940C>GCA415758758AGRNc.4782C>G (p.Pro1594=)
c.4467C>G (p.Pro1489=)
c.4368C>G (p.Pro1456=)
c.3909C>G (p.Pro1303=)
c.3048C>G (p.Pro1016=)
n.4849C>G
n.4853C>G
 gnomAD v4
1g.1049940C>TCA415758759AGRNc.4782C>T (p.Pro1594=)
c.4467C>T (p.Pro1489=)
c.4368C>T (p.Pro1456=)
c.3909C>T (p.Pro1303=)
c.3048C>T (p.Pro1016=)
n.4849C>T
n.4853C>T
1g.1049941A=CA1148747523AGRNc.4783A= (p.Asn1595=)
c.4468A= (p.Asn1490=)
c.4369A= (p.Asn1457=)
c.3910A= (p.Asn1304=)
c.3049A= (p.Asn1017=)
n.4850A=
n.4854A=
1g.1049941A>CCA337779396AGRNc.4783A>C (p.Asn1595His)
c.4468A>C (p.Asn1490His)
c.4369A>C (p.Asn1457His)
c.3910A>C (p.Asn1304His)
c.3049A>C (p.Asn1017His)
n.4850A>C
n.4854A>C
 dbSNP
1g.1049941A>GCA337779397AGRNc.4783A>G (p.Asn1595Asp)
c.4468A>G (p.Asn1490Asp)
c.4369A>G (p.Asn1457Asp)
c.3910A>G (p.Asn1304Asp)
c.3049A>G (p.Asn1017Asp)
n.4850A>G
n.4854A>G
1g.1049941A>TCA337779398AGRNc.4783A>T (p.Asn1595Tyr)
c.4468A>T (p.Asn1490Tyr)
c.4369A>T (p.Asn1457Tyr)
c.3910A>T (p.Asn1304Tyr)
c.3049A>T (p.Asn1017Tyr)
n.4850A>T
n.4854A>T
1g.1049942A>CCA337779399AGRNc.4784A>C (p.Asn1595Thr)
c.4469A>C (p.Asn1490Thr)
c.4370A>C (p.Asn1457Thr)
c.3911A>C (p.Asn1304Thr)
c.3050A>C (p.Asn1017Thr)
n.4851A>C
n.4855A>C
 gnomAD v4
1g.1049942A>GCA337779400AGRNc.4784A>G (p.Asn1595Ser)
c.4469A>G (p.Asn1490Ser)
c.4370A>G (p.Asn1457Ser)
c.3911A>G (p.Asn1304Ser)
c.3050A>G (p.Asn1017Ser)
n.4851A>G
n.4855A>G
 gnomAD v4
1g.1049942A>TCA337779401AGRNc.4784A>T (p.Asn1595Ile)
c.4469A>T (p.Asn1490Ile)
c.4370A>T (p.Asn1457Ile)
c.3911A>T (p.Asn1304Ile)
c.3050A>T (p.Asn1017Ile)
n.4851A>T
n.4855A>T
1g.1049943C>ACA337779402AGRNc.4785C>A (p.Asn1595Lys)
c.4470C>A (p.Asn1490Lys)
c.4371C>A (p.Asn1457Lys)
c.3912C>A (p.Asn1304Lys)
c.3051C>A (p.Asn1017Lys)
n.4852C>A
n.4856C>A
 gnomAD v4
1g.1049943C>GCA337779403AGRNc.4785C>G (p.Asn1595Lys)
c.4470C>G (p.Asn1490Lys)
c.4371C>G (p.Asn1457Lys)
c.3912C>G (p.Asn1304Lys)
c.3051C>G (p.Asn1017Lys)
n.4852C>G
n.4856C>G
 gnomAD v4
1g.1049943C>TCA415758764AGRNc.4785C>T (p.Asn1595=)
c.4470C>T (p.Asn1490=)
c.4371C>T (p.Asn1457=)
c.3912C>T (p.Asn1304=)
c.3051C>T (p.Asn1017=)
n.4852C>T
n.4856C>T
1g.1049944C>ACA337779405AGRNc.4786C>A (p.Pro1596Thr)
c.4471C>A (p.Pro1491Thr)
c.4372C>A (p.Pro1458Thr)
c.3913C>A (p.Pro1305Thr)
c.3052C>A (p.Pro1018Thr)
n.4853C>A
n.4857C>A
1g.1049944C=CA1148747556AGRNc.4786C= (p.Pro1596=)
c.4471C= (p.Pro1491=)
c.4372C= (p.Pro1458=)
c.3913C= (p.Pro1305=)
c.3052C= (p.Pro1018=)
n.4853C=
n.4857C=
1g.1049944C>GCA337779404AGRNc.4786C>G (p.Pro1596Ala)
c.4471C>G (p.Pro1491Ala)
c.4372C>G (p.Pro1458Ala)
c.3913C>G (p.Pro1305Ala)
c.3052C>G (p.Pro1018Ala)
n.4853C>G
n.4857C>G
1g.1049944C>TCA509642AGRNc.4786C>T (p.Pro1596Ser)
c.4471C>T (p.Pro1491Ser)
c.4372C>T (p.Pro1458Ser)
c.3913C>T (p.Pro1305Ser)
c.3052C>T (p.Pro1018Ser)
n.4853C>T
n.4857C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049945C>ACA337779406AGRNc.4787C>A (p.Pro1596His)
c.4472C>A (p.Pro1491His)
c.4373C>A (p.Pro1458His)
c.3914C>A (p.Pro1305His)
c.3053C>A (p.Pro1018His)
n.4854C>A
n.4858C>A
 gnomAD v4
1g.1049945C=CA1148747567AGRNc.4787C= (p.Pro1596=)
c.4472C= (p.Pro1491=)
c.4373C= (p.Pro1458=)
c.3914C= (p.Pro1305=)
c.3053C= (p.Pro1018=)
n.4854C=
n.4858C=
1g.1049945C>GCA337779407AGRNc.4787C>G (p.Pro1596Arg)
c.4472C>G (p.Pro1491Arg)
c.4373C>G (p.Pro1458Arg)
c.3914C>G (p.Pro1305Arg)
c.3053C>G (p.Pro1018Arg)
n.4854C>G
n.4858C>G
 gnomAD v4
1g.1049945C>TCA509643AGRNc.4787C>T (p.Pro1596Leu)
c.4472C>T (p.Pro1491Leu)
c.4373C>T (p.Pro1458Leu)
c.3914C>T (p.Pro1305Leu)
c.3053C>T (p.Pro1018Leu)
n.4854C>T
n.4858C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1049946C>ACA415758766AGRNc.4788C>A (p.Pro1596=)
c.4473C>A (p.Pro1491=)
c.4374C>A (p.Pro1458=)
c.3915C>A (p.Pro1305=)
c.3054C>A (p.Pro1018=)
n.4855C>A
n.4859C>A
1g.1049946C=CA1148747571AGRNc.4788C= (p.Pro1596=)
c.4473C= (p.Pro1491=)
c.4374C= (p.Pro1458=)
c.3915C= (p.Pro1305=)
c.3054C= (p.Pro1018=)
n.4855C=
n.4859C=
1g.1049946C>GCA415758767AGRNc.4788C>G (p.Pro1596=)
c.4473C>G (p.Pro1491=)
c.4374C>G (p.Pro1458=)
c.3915C>G (p.Pro1305=)
c.3054C>G (p.Pro1018=)
n.4855C>G
n.4859C>G
 dbSNP
1g.1049946C>TCA415758768AGRNc.4788C>T (p.Pro1596=)
c.4473C>T (p.Pro1491=)
c.4374C>T (p.Pro1458=)
c.3915C>T (p.Pro1305=)
c.3054C>T (p.Pro1018=)
n.4855C>T
n.4859C>T
1g.1049947T>ACA337779408AGRNc.4789T>A (p.Cys1597Ser)
c.4474T>A (p.Cys1492Ser)
c.4375T>A (p.Cys1459Ser)
c.3916T>A (p.Cys1306Ser)
c.3055T>A (p.Cys1019Ser)
n.4856T>A
n.4860T>A
1g.1049947T>CCA337779409AGRNc.4789T>C (p.Cys1597Arg)
c.4474T>C (p.Cys1492Arg)
c.4375T>C (p.Cys1459Arg)
c.3916T>C (p.Cys1306Arg)
c.3055T>C (p.Cys1019Arg)
n.4856T>C
n.4860T>C
1g.1049947T>GCA337779410AGRNc.4789T>G (p.Cys1597Gly)
c.4474T>G (p.Cys1492Gly)
c.4375T>G (p.Cys1459Gly)
c.3916T>G (p.Cys1306Gly)
c.3055T>G (p.Cys1019Gly)
n.4856T>G
n.4860T>G
1g.1049947_1049955delinsTGCCATGGGCA1148747573AGRNc.4789_4797delinsTGCCATGGG (p.Cys1597=)
c.4474_4482delinsTGCCATGGG (p.Cys1492=)
c.4375_4383delinsTGCCATGGG (p.Cys1459=)
c.3916_3924delinsTGCCATGGG (p.Cys1306=)
c.3055_3063delinsTGCCATGGG (p.Cys1019=)
n.4856_4864delinsTGCCATGGG
n.4860_4868delinsTGCCATGGG
1g.1049948G>ACA337779411AGRNc.4790G>A (p.Cys1597Tyr)
c.4475G>A (p.Cys1492Tyr)
c.4376G>A (p.Cys1459Tyr)
c.3917G>A (p.Cys1306Tyr)
c.3056G>A (p.Cys1019Tyr)
n.4857G>A
n.4861G>A
1g.1049948G>CCA16700794AGRNc.4790G>C (p.Cys1597Ser)
c.4475G>C (p.Cys1492Ser)
c.4376G>C (p.Cys1459Ser)
c.3917G>C (p.Cys1306Ser)
c.3056G>C (p.Cys1019Ser)
n.4857G>C
n.4861G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.1049948G=CA1144160093AGRNc.4790G= (p.Cys1597=)
c.4475G= (p.Cys1492=)
c.4376G= (p.Cys1459=)
c.3917G= (p.Cys1306=)
c.3056G= (p.Cys1019=)
n.4857G=
n.4861G=
1g.1049948G>TCA337779412AGRNc.4790G>T (p.Cys1597Phe)
c.4475G>T (p.Cys1492Phe)
c.4376G>T (p.Cys1459Phe)
c.3917G>T (p.Cys1306Phe)
c.3056G>T (p.Cys1019Phe)
n.4857G>T
n.4861G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1049950_1049957delCA509644AGRNc.4792_4799del (p.His1598GlyfsTer20)
c.4477_4484del (p.His1493GlyfsTer20)
c.4378_4385del (p.His1460GlyfsTer20)
c.3919_3926del (p.His1307GlyfsTer20)
c.3058_3065del (p.His1020GlyfsTer20)
n.4859_4866del
n.4863_4870del
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1049949C>ACA337779413AGRNc.4791C>A (p.Cys1597Ter)
c.4476C>A (p.Cys1492Ter)
c.4377C>A (p.Cys1459Ter)
c.3918C>A (p.Cys1306Ter)
c.3057C>A (p.Cys1019Ter)
n.4858C>A
n.4862C>A
1g.1049949C=CA1148747585AGRNc.4791C= (p.Cys1597=)
c.4476C= (p.Cys1492=)
c.4377C= (p.Cys1459=)
c.3918C= (p.Cys1306=)
c.3057C= (p.Cys1019=)
n.4858C=
n.4862C=
1g.1049949C>GCA337779414AGRNc.4791C>G (p.Cys1597Trp)
c.4476C>G (p.Cys1492Trp)
c.4377C>G (p.Cys1459Trp)
c.3918C>G (p.Cys1306Trp)
c.3057C>G (p.Cys1019Trp)
n.4858C>G
n.4862C>G
 dbSNP gnomAD v4
1g.1049949C>TCA415758770AGRNc.4791C>T (p.Cys1597=)
c.4476C>T (p.Cys1492=)
c.4377C>T (p.Cys1459=)
c.3918C>T (p.Cys1306=)
c.3057C>T (p.Cys1019=)
n.4858C>T
n.4862C>T
 gnomAD v4
1g.1049950C>ACA337779417AGRNc.4792C>A (p.His1598Asn)
c.4477C>A (p.His1493Asn)
c.4378C>A (p.His1460Asn)
c.3919C>A (p.His1307Asn)
c.3058C>A (p.His1020Asn)
n.4859C>A
n.4863C>A
1g.1049950C>GCA337779416AGRNc.4792C>G (p.His1598Asp)
c.4477C>G (p.His1493Asp)
c.4378C>G (p.His1460Asp)
c.3919C>G (p.His1307Asp)
c.3058C>G (p.His1020Asp)
n.4859C>G
n.4863C>G
1g.1049950C>TCA337779415AGRNc.4792C>T (p.His1598Tyr)
c.4477C>T (p.His1493Tyr)
c.4378C>T (p.His1460Tyr)
c.3919C>T (p.His1307Tyr)
c.3058C>T (p.His1020Tyr)
n.4859C>T
n.4863C>T
1g.1049951A>CCA337779418AGRNc.4793A>C (p.His1598Pro)
c.4478A>C (p.His1493Pro)
c.4379A>C (p.His1460Pro)
c.3920A>C (p.His1307Pro)
c.3059A>C (p.His1020Pro)
n.4860A>C
n.4864A>C
1g.1049951A>GCA337779420AGRNc.4793A>G (p.His1598Arg)
c.4478A>G (p.His1493Arg)
c.4379A>G (p.His1460Arg)
c.3920A>G (p.His1307Arg)
c.3059A>G (p.His1020Arg)
n.4860A>G
n.4864A>G
1g.1049951A>TCA337779419AGRNc.4793A>T (p.His1598Leu)
c.4478A>T (p.His1493Leu)
c.4379A>T (p.His1460Leu)
c.3920A>T (p.His1307Leu)
c.3059A>T (p.His1020Leu)
n.4860A>T
n.4864A>T
1g.1049952T>ACA337779421AGRNc.4794T>A (p.His1598Gln)
c.4479T>A (p.His1493Gln)
c.4380T>A (p.His1460Gln)
c.3921T>A (p.His1307Gln)
c.3060T>A (p.His1020Gln)
n.4861T>A
n.4865T>A
1g.1049952T>CCA415758775AGRNc.4794T>C (p.His1598=)
c.4479T>C (p.His1493=)
c.4380T>C (p.His1460=)
c.3921T>C (p.His1307=)
c.3060T>C (p.His1020=)
n.4861T>C
n.4865T>C
 gnomAD v4
1g.1049952T>GCA337779422AGRNc.4794T>G (p.His1598Gln)
c.4479T>G (p.His1493Gln)
c.4380T>G (p.His1460Gln)
c.3921T>G (p.His1307Gln)
c.3060T>G (p.His1020Gln)
n.4861T>G
n.4865T>G
 dbSNP
1g.1049952T=CA1148747590AGRNc.4794T= (p.His1598=)
c.4479T= (p.His1493=)
c.4380T= (p.His1460=)
c.3921T= (p.His1307=)
c.3060T= (p.His1020=)
n.4861T=
n.4865T=
1g.1049953G>ACA337779423AGRNc.4795G>A (p.Gly1599Arg)
c.4480G>A (p.Gly1494Arg)
c.4381G>A (p.Gly1461Arg)
c.3922G>A (p.Gly1308Arg)
c.3061G>A (p.Gly1021Arg)
n.4862G>A
n.4866G>A
1g.1049953G>CCA337779424AGRNc.4795G>C (p.Gly1599Arg)
c.4480G>C (p.Gly1494Arg)
c.4381G>C (p.Gly1461Arg)
c.3922G>C (p.Gly1308Arg)
c.3061G>C (p.Gly1021Arg)
n.4862G>C
n.4866G>C
1g.1049953G>TCA337779425AGRNc.4795G>T (p.Gly1599Trp)
c.4480G>T (p.Gly1494Trp)
c.4381G>T (p.Gly1461Trp)
c.3922G>T (p.Gly1308Trp)
c.3061G>T (p.Gly1021Trp)
n.4862G>T
n.4866G>T
1g.1049954G>ACA337779426AGRNc.4796G>A (p.Gly1599Glu)
c.4481G>A (p.Gly1494Glu)
c.4382G>A (p.Gly1461Glu)
c.3923G>A (p.Gly1308Glu)
c.3062G>A (p.Gly1021Glu)
n.4863G>A
n.4867G>A
 gnomAD v4
1g.1049954G>CCA337779427AGRNc.4796G>C (p.Gly1599Ala)
c.4481G>C (p.Gly1494Ala)
c.4382G>C (p.Gly1461Ala)
c.3923G>C (p.Gly1308Ala)
c.3062G>C (p.Gly1021Ala)
n.4863G>C
n.4867G>C
1g.1049954G>TCA337779428AGRNc.4796G>T (p.Gly1599Val)
c.4481G>T (p.Gly1494Val)
c.4382G>T (p.Gly1461Val)
c.3923G>T (p.Gly1308Val)
c.3062G>T (p.Gly1021Val)
n.4863G>T
n.4867G>T
 gnomAD v4
1g.1049955G>ACA415758778AGRNc.4797G>A (p.Gly1599=)
c.4482G>A (p.Gly1494=)
c.4383G>A (p.Gly1461=)
c.3924G>A (p.Gly1308=)
c.3063G>A (p.Gly1021=)
n.4864G>A
n.4868G>A
 gnomAD v4
1g.1049955G>CCA415758781AGRNc.4797G>C (p.Gly1599=)
c.4482G>C (p.Gly1494=)
c.4383G>C (p.Gly1461=)
c.3924G>C (p.Gly1308=)
c.3063G>C (p.Gly1021=)
n.4864G>C
n.4868G>C
 dbSNP
1g.1049955G>TCA415758779AGRNc.4797G>T (p.Gly1599=)
c.4482G>T (p.Gly1494=)
c.4383G>T (p.Gly1461=)
c.3924G>T (p.Gly1308=)
c.3063G>T (p.Gly1021=)
n.4864G>T
n.4868G>T
1g.1049956G>ACA337779429AGRNc.4798G>A (p.Ala1600Thr)
c.4483G>A (p.Ala1495Thr)
c.4384G>A (p.Ala1462Thr)
c.3925G>A (p.Ala1309Thr)
c.3064G>A (p.Ala1022Thr)
n.4865G>A
n.4869G>A
 dbSNP gnomAD v2 gnomAD v4
1g.1049956G>CCA337779430AGRNc.4798G>C (p.Ala1600Pro)
c.4483G>C (p.Ala1495Pro)
c.4384G>C (p.Ala1462Pro)
c.3925G>C (p.Ala1309Pro)
c.3064G>C (p.Ala1022Pro)
n.4865G>C
n.4869G>C
1g.1049956G=CA1148747599AGRNc.4798G= (p.Ala1600=)
c.4483G= (p.Ala1495=)
c.4384G= (p.Ala1462=)
c.3925G= (p.Ala1309=)
c.3064G= (p.Ala1022=)
n.4865G=
n.4869G=
1g.1049956G>TCA337779431AGRNc.4798G>T (p.Ala1600Ser)
c.4483G>T (p.Ala1495Ser)
c.4384G>T (p.Ala1462Ser)
c.3925G>T (p.Ala1309Ser)
c.3064G>T (p.Ala1022Ser)
n.4865G>T
n.4869G>T
1g.1049957C>ACA337779433AGRNc.4799C>A (p.Ala1600Glu)
c.4484C>A (p.Ala1495Glu)
c.4385C>A (p.Ala1462Glu)
c.3926C>A (p.Ala1309Glu)
c.3065C>A (p.Ala1022Glu)
n.4866C>A
n.4870C>A
1g.1049957C=CA1143755028AGRNc.4799C= (p.Ala1600=)
c.4484C= (p.Ala1495=)
c.4385C= (p.Ala1462=)
c.3926C= (p.Ala1309=)
c.3065C= (p.Ala1022=)
n.4866C=
n.4870C=
1g.1049957C>GCA337779432AGRNc.4799C>G (p.Ala1600Gly)
c.4484C>G (p.Ala1495Gly)
c.4385C>G (p.Ala1462Gly)
c.3926C>G (p.Ala1309Gly)
c.3065C>G (p.Ala1022Gly)
n.4866C>G
n.4870C>G
1g.1049957C>TCA509645AGRNc.4799C>T (p.Ala1600Val)
c.4484C>T (p.Ala1495Val)
c.4385C>T (p.Ala1462Val)
c.3926C>T (p.Ala1309Val)
c.3065C>T (p.Ala1022Val)
n.4866C>T
n.4870C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049957_1049958delinsCGCA1148747606AGRNc.4799_4800delinsCG (p.Ala1600=)
c.4484_4485delinsCG (p.Ala1495=)
c.4385_4386delinsCG (p.Ala1462=)
c.3926_3927delinsCG (p.Ala1309=)
c.3065_3066delinsCG (p.Ala1022=)
n.4866_4867delinsCG
n.4870_4871delinsCG
1g.1049958G>ACA509646AGRNc.4800G>A (p.Ala1600=)
c.4485G>A (p.Ala1495=)
c.4386G>A (p.Ala1462=)
c.3927G>A (p.Ala1309=)
c.3066G>A (p.Ala1022=)
n.4867G>A
n.4871G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049958G>CCA415758784AGRNc.4800G>C (p.Ala1600=)
c.4485G>C (p.Ala1495=)
c.4386G>C (p.Ala1462=)
c.3927G>C (p.Ala1309=)
c.3066G>C (p.Ala1022=)
n.4867G>C
n.4871G>C
1g.1049958G=CA1143645348AGRNc.4800G= (p.Ala1600=)
c.4485G= (p.Ala1495=)
c.4386G= (p.Ala1462=)
c.3927G= (p.Ala1309=)
c.3066G= (p.Ala1022=)
n.4867G=
n.4871G=
1g.1049958G>TCA415758785AGRNc.4800G>T (p.Ala1600=)
c.4485G>T (p.Ala1495=)
c.4386G>T (p.Ala1462=)
c.3927G>T (p.Ala1309=)
c.3066G>T (p.Ala1022=)
n.4867G>T
n.4871G>T
1g.1049959delCA1148747613AGRNc.4801del (p.Ala1601ArgfsTer?)
c.4486del (p.Ala1496ArgfsTer?)
c.4387del (p.Ala1463ArgfsTer?)
c.3928del (p.Ala1310ArgfsTer?)
c.3067del (p.Ala1023ArgfsTer?)
n.4868del
n.4872del
 dbSNP
1g.1049959G>ACA337779434AGRNc.4801G>A (p.Ala1601Thr)
c.4486G>A (p.Ala1496Thr)
c.4387G>A (p.Ala1463Thr)
c.3928G>A (p.Ala1310Thr)
c.3067G>A (p.Ala1023Thr)
n.4868G>A
n.4872G>A
 gnomAD v4
1g.1049959G>CCA337779435AGRNc.4801G>C (p.Ala1601Pro)
c.4486G>C (p.Ala1496Pro)
c.4387G>C (p.Ala1463Pro)
c.3928G>C (p.Ala1310Pro)
c.3067G>C (p.Ala1023Pro)
n.4868G>C
n.4872G>C
1g.1049959G>TCA337779436AGRNc.4801G>T (p.Ala1601Ser)
c.4486G>T (p.Ala1496Ser)
c.4387G>T (p.Ala1463Ser)
c.3928G>T (p.Ala1310Ser)
c.3067G>T (p.Ala1023Ser)
n.4868G>T
n.4872G>T
1g.1049960C>ACA337779437AGRNc.4802C>A (p.Ala1601Glu)
c.4487C>A (p.Ala1496Glu)
c.4388C>A (p.Ala1463Glu)
c.3929C>A (p.Ala1310Glu)
c.3068C>A (p.Ala1023Glu)
n.4869C>A
n.4873C>A
1g.1049960C=CA1148747637AGRNc.4802C= (p.Ala1601=)
c.4487C= (p.Ala1496=)
c.4388C= (p.Ala1463=)
c.3929C= (p.Ala1310=)
c.3068C= (p.Ala1023=)
n.4869C=
n.4873C=
1g.1049960C>GCA337779438AGRNc.4802C>G (p.Ala1601Gly)
c.4487C>G (p.Ala1496Gly)
c.4388C>G (p.Ala1463Gly)
c.3929C>G (p.Ala1310Gly)
c.3068C>G (p.Ala1023Gly)
n.4869C>G
n.4873C>G
1g.1049960C>TCA509647AGRNc.4802C>T (p.Ala1601Val)
c.4487C>T (p.Ala1496Val)
c.4388C>T (p.Ala1463Val)
c.3929C>T (p.Ala1310Val)
c.3068C>T (p.Ala1023Val)
n.4869C>T
n.4873C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049961G>ACA509649AGRNc.4803G>A (p.Ala1601=)
c.4488G>A (p.Ala1496=)
c.4389G>A (p.Ala1463=)
c.3930G>A (p.Ala1310=)
c.3069G>A (p.Ala1023=)
n.4870G>A
n.4874G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049961G>CCA415758792AGRNc.4803G>C (p.Ala1601=)
c.4488G>C (p.Ala1496=)
c.4389G>C (p.Ala1463=)
c.3930G>C (p.Ala1310=)
c.3069G>C (p.Ala1023=)
n.4870G>C
n.4874G>C
 gnomAD v4
1g.1049961G=CA1144236606AGRNc.4803G= (p.Ala1601=)
c.4488G= (p.Ala1496=)
c.4389G= (p.Ala1463=)
c.3930G= (p.Ala1310=)
c.3069G= (p.Ala1023=)
n.4870G=
n.4874G=
1g.1049961G>TCA509648AGRNc.4803G>T (p.Ala1601=)
c.4488G>T (p.Ala1496=)
c.4389G>T (p.Ala1463=)
c.3930G>T (p.Ala1310=)
c.3069G>T (p.Ala1023=)
n.4870G>T
n.4874G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049962C>ACA337779439AGRNc.4804C>A (p.Pro1602Thr)
c.4489C>A (p.Pro1497Thr)
c.4390C>A (p.Pro1464Thr)
c.3931C>A (p.Pro1311Thr)
c.3070C>A (p.Pro1024Thr)
n.4871C>A
n.4875C>A
1g.1049962C>GCA337779440AGRNc.4804C>G (p.Pro1602Ala)
c.4489C>G (p.Pro1497Ala)
c.4390C>G (p.Pro1464Ala)
c.3931C>G (p.Pro1311Ala)
c.3070C>G (p.Pro1024Ala)
n.4871C>G
n.4875C>G
1g.1049962C>TCA337779441AGRNc.4804C>T (p.Pro1602Ser)
c.4489C>T (p.Pro1497Ser)
c.4390C>T (p.Pro1464Ser)
c.3931C>T (p.Pro1311Ser)
c.3070C>T (p.Pro1024Ser)
n.4871C>T
n.4875C>T
1g.1049963C>ACA337779443AGRNc.4805C>A (p.Pro1602His)
c.4490C>A (p.Pro1497His)
c.4391C>A (p.Pro1464His)
c.3932C>A (p.Pro1311His)
c.3071C>A (p.Pro1024His)
n.4872C>A
n.4876C>A
 COSMIC
1g.1049963C=CA1148747661AGRNc.4805C= (p.Pro1602=)
c.4490C= (p.Pro1497=)
c.4391C= (p.Pro1464=)
c.3932C= (p.Pro1311=)
c.3071C= (p.Pro1024=)
n.4872C=
n.4876C=
1g.1049963C>GCA337779442AGRNc.4805C>G (p.Pro1602Arg)
c.4490C>G (p.Pro1497Arg)
c.4391C>G (p.Pro1464Arg)
c.3932C>G (p.Pro1311Arg)
c.3071C>G (p.Pro1024Arg)
n.4872C>G
n.4876C>G
1g.1049963C>TCA16700801AGRNc.4805C>T (p.Pro1602Leu)
c.4490C>T (p.Pro1497Leu)
c.4391C>T (p.Pro1464Leu)
c.3932C>T (p.Pro1311Leu)
c.3071C>T (p.Pro1024Leu)
n.4872C>T
n.4876C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1049964C>ACA415758801AGRNc.4806C>A (p.Pro1602=)
c.4491C>A (p.Pro1497=)
c.4392C>A (p.Pro1464=)
c.3933C>A (p.Pro1311=)
c.3072C>A (p.Pro1024=)
n.4873C>A
n.4877C>A
1g.1049964C=CA1148747675AGRNc.4806C= (p.Pro1602=)
c.4491C= (p.Pro1497=)
c.4392C= (p.Pro1464=)
c.3933C= (p.Pro1311=)
c.3072C= (p.Pro1024=)
n.4873C=
n.4877C=
1g.1049964C>GCA415758800AGRNc.4806C>G (p.Pro1602=)
c.4491C>G (p.Pro1497=)
c.4392C>G (p.Pro1464=)
c.3933C>G (p.Pro1311=)
c.3072C>G (p.Pro1024=)
n.4873C>G
n.4877C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1049964C>TCA415758798AGRNc.4806C>T (p.Pro1602=)
c.4491C>T (p.Pro1497=)
c.4392C>T (p.Pro1464=)
c.3933C>T (p.Pro1311=)
c.3072C>T (p.Pro1024=)
n.4873C>T
n.4877C>T
1g.1049965T>ACA337779444AGRNc.4807T>A (p.Cys1603Ser)
c.4492T>A (p.Cys1498Ser)
c.4393T>A (p.Cys1465Ser)
c.3934T>A (p.Cys1312Ser)
c.3073T>A (p.Cys1025Ser)
n.4874T>A
n.4878T>A
1g.1049965T>CCA337779445AGRNc.4807T>C (p.Cys1603Arg)
c.4492T>C (p.Cys1498Arg)
c.4393T>C (p.Cys1465Arg)
c.3934T>C (p.Cys1312Arg)
c.3073T>C (p.Cys1025Arg)
n.4874T>C
n.4878T>C
1g.1049965T>GCA337779446AGRNc.4807T>G (p.Cys1603Gly)
c.4492T>G (p.Cys1498Gly)
c.4393T>G (p.Cys1465Gly)
c.3934T>G (p.Cys1312Gly)
c.3073T>G (p.Cys1025Gly)
n.4874T>G
n.4878T>G
1g.1049966G>ACA337779447AGRNc.4808G>A (p.Cys1603Tyr)
c.4493G>A (p.Cys1498Tyr)
c.4394G>A (p.Cys1465Tyr)
c.3935G>A (p.Cys1312Tyr)
c.3074G>A (p.Cys1025Tyr)
n.4875G>A
n.4879G>A
1g.1049966G>CCA337779448AGRNc.4808G>C (p.Cys1603Ser)
c.4493G>C (p.Cys1498Ser)
c.4394G>C (p.Cys1465Ser)
c.3935G>C (p.Cys1312Ser)
c.3074G>C (p.Cys1025Ser)
n.4875G>C
n.4879G>C
1g.1049966G>TCA337779449AGRNc.4808G>T (p.Cys1603Phe)
c.4493G>T (p.Cys1498Phe)
c.4394G>T (p.Cys1465Phe)
c.3935G>T (p.Cys1312Phe)
c.3074G>T (p.Cys1025Phe)
n.4875G>T
n.4879G>T
1g.1049967C>ACA337779451AGRNc.4809C>A (p.Cys1603Ter)
c.4494C>A (p.Cys1498Ter)
c.4395C>A (p.Cys1465Ter)
c.3936C>A (p.Cys1312Ter)
c.3075C>A (p.Cys1025Ter)
n.4876C>A
n.4880C>A
1g.1049967C=CA1148747695AGRNc.4809C= (p.Cys1603=)
c.4494C= (p.Cys1498=)
c.4395C= (p.Cys1465=)
c.3936C= (p.Cys1312=)
c.3075C= (p.Cys1025=)
n.4876C=
n.4880C=
1g.1049967C>GCA337779450AGRNc.4809C>G (p.Cys1603Trp)
c.4494C>G (p.Cys1498Trp)
c.4395C>G (p.Cys1465Trp)
c.3936C>G (p.Cys1312Trp)
c.3075C>G (p.Cys1025Trp)
n.4876C>G
n.4880C>G
 dbSNP
1g.1049967C>TCA415758803AGRNc.4809C>T (p.Cys1603=)
c.4494C>T (p.Cys1498=)
c.4395C>T (p.Cys1465=)
c.3936C>T (p.Cys1312=)
c.3075C>T (p.Cys1025=)
n.4876C>T
n.4880C>T
1g.1049968C>ACA337779452AGRNc.4810C>A (p.Arg1604Ser)
c.4495C>A (p.Arg1499Ser)
c.4396C>A (p.Arg1466Ser)
c.3937C>A (p.Arg1313Ser)
c.3076C>A (p.Arg1026Ser)
n.4877C>A
n.4881C>A
1g.1049968C=CA1143477054AGRNc.4810C= (p.Arg1604=)
c.4495C= (p.Arg1499=)
c.4396C= (p.Arg1466=)
c.3937C= (p.Arg1313=)
c.3076C= (p.Arg1026=)
n.4877C=
n.4881C=
1g.1049968C>GCA509651AGRNc.4810C>G (p.Arg1604Gly)
c.4495C>G (p.Arg1499Gly)
c.4396C>G (p.Arg1466Gly)
c.3937C>G (p.Arg1313Gly)
c.3076C>G (p.Arg1026Gly)
n.4877C>G
n.4881C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049968C>TCA509650AGRNc.4810C>T (p.Arg1604Cys)
c.4495C>T (p.Arg1499Cys)
c.4396C>T (p.Arg1466Cys)
c.3937C>T (p.Arg1313Cys)
c.3076C>T (p.Arg1026Cys)
n.4877C>T
n.4881C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049969G>ACA509652AGRNc.4811G>A (p.Arg1604His)
c.4496G>A (p.Arg1499His)
c.4397G>A (p.Arg1466His)
c.3938G>A (p.Arg1313His)
c.3077G>A (p.Arg1026His)
n.4878G>A
n.4882G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1049969G>CCA337779453AGRNc.4811G>C (p.Arg1604Pro)
c.4496G>C (p.Arg1499Pro)
c.4397G>C (p.Arg1466Pro)
c.3938G>C (p.Arg1313Pro)
c.3077G>C (p.Arg1026Pro)
n.4878G>C
n.4882G>C
 COSMIC
1g.1049969G=CA1148747705AGRNc.4811G= (p.Arg1604=)
c.4496G= (p.Arg1499=)
c.4397G= (p.Arg1466=)
c.3938G= (p.Arg1313=)
c.3077G= (p.Arg1026=)
n.4878G=
n.4882G=
1g.1049969G>TCA337779454AGRNc.4811G>T (p.Arg1604Leu)
c.4496G>T (p.Arg1499Leu)
c.4397G>T (p.Arg1466Leu)
c.3938G>T (p.Arg1313Leu)
c.3077G>T (p.Arg1026Leu)
n.4878G>T
n.4882G>T
 gnomAD v4
1g.1049970T>ACA415758808AGRNc.4812T>A (p.Arg1604=)
c.4497T>A (p.Arg1499=)
c.4398T>A (p.Arg1466=)
c.3939T>A (p.Arg1313=)
c.3078T>A (p.Arg1026=)
n.4879T>A
n.4883T>A
1g.1049970T>CCA415758811AGRNc.4812T>C (p.Arg1604=)
c.4497T>C (p.Arg1499=)
c.4398T>C (p.Arg1466=)
c.3939T>C (p.Arg1313=)
c.3078T>C (p.Arg1026=)
n.4879T>C
n.4883T>C
1g.1049970T>GCA415758810AGRNc.4812T>G (p.Arg1604=)
c.4497T>G (p.Arg1499=)
c.4398T>G (p.Arg1466=)
c.3939T>G (p.Arg1313=)
c.3078T>G (p.Arg1026=)
n.4879T>G
n.4883T>G
1g.1049971G>ACA337779455AGRNc.4813G>A (p.Val1605Met)
c.4498G>A (p.Val1500Met)
c.4399G>A (p.Val1467Met)
c.3940G>A (p.Val1314Met)
c.3079G>A (p.Val1027Met)
n.4880G>A
n.4884G>A
1g.1049971G>CCA337779457AGRNc.4813G>C (p.Val1605Leu)
c.4498G>C (p.Val1500Leu)
c.4399G>C (p.Val1467Leu)
c.3940G>C (p.Val1314Leu)
c.3079G>C (p.Val1027Leu)
n.4880G>C
n.4884G>C
 dbSNP
1g.1049971G=CA1148747707AGRNc.4813G= (p.Val1605=)
c.4498G= (p.Val1500=)
c.4399G= (p.Val1467=)
c.3940G= (p.Val1314=)
c.3079G= (p.Val1027=)
n.4880G=
n.4884G=
1g.1049971G>TCA337779456AGRNc.4813G>T (p.Val1605Leu)
c.4498G>T (p.Val1500Leu)
c.4399G>T (p.Val1467Leu)
c.3940G>T (p.Val1314Leu)
c.3079G>T (p.Val1027Leu)
n.4880G>T
n.4884G>T
1g.1049972T>ACA337779458AGRNc.4814T>A (p.Val1605Glu)
c.4499T>A (p.Val1500Glu)
c.4400T>A (p.Val1467Glu)
c.3941T>A (p.Val1314Glu)
c.3080T>A (p.Val1027Glu)
n.4881T>A
n.4885T>A
1g.1049972T>CCA337779459AGRNc.4814T>C (p.Val1605Ala)
c.4499T>C (p.Val1500Ala)
c.4400T>C (p.Val1467Ala)
c.3941T>C (p.Val1314Ala)
c.3080T>C (p.Val1027Ala)
n.4881T>C
n.4885T>C
1g.1049972T>GCA337779460AGRNc.4814T>G (p.Val1605Gly)
c.4499T>G (p.Val1500Gly)
c.4400T>G (p.Val1467Gly)
c.3941T>G (p.Val1314Gly)
c.3080T>G (p.Val1027Gly)
n.4881T>G
n.4885T>G
1g.1049973G>ACA415758815AGRNc.4815G>A (p.Val1605=)
c.4500G>A (p.Val1500=)
c.4401G>A (p.Val1467=)
c.3942G>A (p.Val1314=)
c.3081G>A (p.Val1027=)
n.4882G>A
n.4886G>A
1g.1049973G>CCA415758816AGRNc.4815G>C (p.Val1605=)
c.4500G>C (p.Val1500=)
c.4401G>C (p.Val1467=)
c.3942G>C (p.Val1314=)
c.3081G>C (p.Val1027=)
n.4882G>C
n.4886G>C
1g.1049973G>TCA415758817AGRNc.4815G>T (p.Val1605=)
c.4500G>T (p.Val1500=)
c.4401G>T (p.Val1467=)
c.3942G>T (p.Val1314=)
c.3081G>T (p.Val1027=)
n.4882G>T
n.4886G>T

Number of alleles fetched