Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.1048092C>ACA337852531AGRNc.3832C>A (p.Arg1278Ser)
c.3517C>A (p.Arg1173Ser)
c.3418C>A (p.Arg1140Ser)
c.2959C>A (p.Arg987Ser)
c.2098C>A (p.Arg700Ser)
n.3899C>A
n.3903C>A
 gnomAD v4
1g.1048092C=CA1148803662AGRNc.3832C= (p.Arg1278=)
c.3517C= (p.Arg1173=)
c.3418C= (p.Arg1140=)
c.2959C= (p.Arg987=)
c.2098C= (p.Arg700=)
n.3899C=
n.3903C=
1g.1048092C>GCA337852536AGRNc.3832C>G (p.Arg1278Gly)
c.3517C>G (p.Arg1173Gly)
c.3418C>G (p.Arg1140Gly)
c.2959C>G (p.Arg987Gly)
c.2098C>G (p.Arg700Gly)
n.3899C>G
n.3903C>G
 gnomAD v4
1g.1048092C>TCA509253AGRNc.3832C>T (p.Arg1278Cys)
c.3517C>T (p.Arg1173Cys)
c.3418C>T (p.Arg1140Cys)
c.2959C>T (p.Arg987Cys)
c.2098C>T (p.Arg700Cys)
n.3899C>T
n.3903C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1048093G>ACA509255AGRNc.3833G>A (p.Arg1278His)
c.3518G>A (p.Arg1173His)
c.3419G>A (p.Arg1140His)
c.2960G>A (p.Arg987His)
c.2099G>A (p.Arg700His)
n.3900G>A
n.3904G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1048093G>CCA337852552AGRNc.3833G>C (p.Arg1278Pro)
c.3518G>C (p.Arg1173Pro)
c.3419G>C (p.Arg1140Pro)
c.2960G>C (p.Arg987Pro)
c.2099G>C (p.Arg700Pro)
n.3900G>C
n.3904G>C
1g.1048093G=CA1145406299AGRNc.3833G= (p.Arg1278=)
c.3518G= (p.Arg1173=)
c.3419G= (p.Arg1140=)
c.2960G= (p.Arg987=)
c.2099G= (p.Arg700=)
n.3900G=
n.3904G=
1g.1048093G>TCA509254AGRNc.3833G>T (p.Arg1278Leu)
c.3518G>T (p.Arg1173Leu)
c.3419G>T (p.Arg1140Leu)
c.2960G>T (p.Arg987Leu)
c.2099G>T (p.Arg700Leu)
n.3900G>T
n.3904G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048094C>ACA415758086AGRNc.3834C>A (p.Arg1278=)
c.3519C>A (p.Arg1173=)
c.3420C>A (p.Arg1140=)
c.2961C>A (p.Arg987=)
c.2100C>A (p.Arg700=)
n.3901C>A
n.3905C>A
 gnomAD v4
1g.1048094C=CA1148803675AGRNc.3834C= (p.Arg1278=)
c.3519C= (p.Arg1173=)
c.3420C= (p.Arg1140=)
c.2961C= (p.Arg987=)
c.2100C= (p.Arg700=)
n.3901C=
n.3905C=
1g.1048094C>GCA415758088AGRNc.3834C>G (p.Arg1278=)
c.3519C>G (p.Arg1173=)
c.3420C>G (p.Arg1140=)
c.2961C>G (p.Arg987=)
c.2100C>G (p.Arg700=)
n.3901C>G
n.3905C>G
1g.1048094C>TCA509256AGRNc.3834C>T (p.Arg1278=)
c.3519C>T (p.Arg1173=)
c.3420C>T (p.Arg1140=)
c.2961C>T (p.Arg987=)
c.2100C>T (p.Arg700=)
n.3901C>T
n.3905C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048095C>ACA337852560AGRNc.3835C>A (p.Leu1279Met)
c.3520C>A (p.Leu1174Met)
c.3421C>A (p.Leu1141Met)
c.2962C>A (p.Leu988Met)
c.2101C>A (p.Leu701Met)
n.3902C>A
n.3906C>A
 gnomAD v4
1g.1048095C=CA1148803728AGRNc.3835C= (p.Leu1279=)
c.3520C= (p.Leu1174=)
c.3421C= (p.Leu1141=)
c.2962C= (p.Leu988=)
c.2101C= (p.Leu701=)
n.3902C=
n.3906C=
1g.1048095C>GCA337852562AGRNc.3835C>G (p.Leu1279Val)
c.3520C>G (p.Leu1174Val)
c.3421C>G (p.Leu1141Val)
c.2962C>G (p.Leu988Val)
c.2101C>G (p.Leu701Val)
n.3902C>G
n.3906C>G
1g.1048095C>TCA415758090AGRNc.3835C>T (p.Leu1279=)
c.3520C>T (p.Leu1174=)
c.3421C>T (p.Leu1141=)
c.2962C>T (p.Leu988=)
c.2101C>T (p.Leu701=)
n.3902C>T
n.3906C>T
 dbSNP gnomAD v3 gnomAD v4
1g.1048096T>ACA337852569AGRNc.3836T>A (p.Leu1279Gln)
c.3521T>A (p.Leu1174Gln)
c.3422T>A (p.Leu1141Gln)
c.2963T>A (p.Leu988Gln)
c.2102T>A (p.Leu701Gln)
n.3903T>A
n.3907T>A
 dbSNP gnomAD v2 gnomAD v4
1g.1048096T>CCA337852570AGRNc.3836T>C (p.Leu1279Pro)
c.3521T>C (p.Leu1174Pro)
c.3422T>C (p.Leu1141Pro)
c.2963T>C (p.Leu988Pro)
c.2102T>C (p.Leu701Pro)
n.3903T>C
n.3907T>C
 gnomAD v4
1g.1048096T>GCA337852575AGRNc.3836T>G (p.Leu1279Arg)
c.3521T>G (p.Leu1174Arg)
c.3422T>G (p.Leu1141Arg)
c.2963T>G (p.Leu988Arg)
c.2102T>G (p.Leu701Arg)
n.3903T>G
n.3907T>G
1g.1048096T=CA1148803736AGRNc.3836T= (p.Leu1279=)
c.3521T= (p.Leu1174=)
c.3422T= (p.Leu1141=)
c.2963T= (p.Leu988=)
c.2102T= (p.Leu701=)
n.3903T=
n.3907T=
1g.1048097G>ACA415758101AGRNc.3837G>A (p.Leu1279=)
c.3522G>A (p.Leu1174=)
c.3423G>A (p.Leu1141=)
c.2964G>A (p.Leu988=)
c.2103G>A (p.Leu701=)
n.3904G>A
n.3908G>A
 gnomAD v4
1g.1048097G>CCA415758098AGRNc.3837G>C (p.Leu1279=)
c.3522G>C (p.Leu1174=)
c.3423G>C (p.Leu1141=)
c.2964G>C (p.Leu988=)
c.2103G>C (p.Leu701=)
n.3904G>C
n.3908G>C
1g.1048097G>TCA415758100AGRNc.3837G>T (p.Leu1279=)
c.3522G>T (p.Leu1174=)
c.3423G>T (p.Leu1141=)
c.2964G>T (p.Leu988=)
c.2103G>T (p.Leu701=)
n.3904G>T
n.3908G>T
 gnomAD v4
1g.1048098C>ACA337852578AGRNc.3838C>A (p.Pro1280Thr)
c.3523C>A (p.Pro1175Thr)
c.3424C>A (p.Pro1142Thr)
c.2965C>A (p.Pro989Thr)
c.2104C>A (p.Pro702Thr)
n.3905C>A
n.3909C>A
 gnomAD v4
1g.1048098C=CA1146649680AGRNc.3838C= (p.Pro1280=)
c.3523C= (p.Pro1175=)
c.3424C= (p.Pro1142=)
c.2965C= (p.Pro989=)
c.2104C= (p.Pro702=)
n.3905C=
n.3909C=
1g.1048098C>GCA337852581AGRNc.3838C>G (p.Pro1280Ala)
c.3523C>G (p.Pro1175Ala)
c.3424C>G (p.Pro1142Ala)
c.2965C>G (p.Pro989Ala)
c.2104C>G (p.Pro702Ala)
n.3905C>G
n.3909C>G
 gnomAD v4
1g.1048098C>TCA16760185AGRNc.3838C>T (p.Pro1280Ser)
c.3523C>T (p.Pro1175Ser)
c.3424C>T (p.Pro1142Ser)
c.2965C>T (p.Pro989Ser)
c.2104C>T (p.Pro702Ser)
n.3905C>T
n.3909C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1048099C>ACA337852590AGRNc.3839C>A (p.Pro1280Gln)
c.3524C>A (p.Pro1175Gln)
c.3425C>A (p.Pro1142Gln)
c.2966C>A (p.Pro989Gln)
c.2105C>A (p.Pro702Gln)
n.3906C>A
n.3910C>A
 gnomAD v4
1g.1048099C=CA1148803759AGRNc.3839C= (p.Pro1280=)
c.3524C= (p.Pro1175=)
c.3425C= (p.Pro1142=)
c.2966C= (p.Pro989=)
c.2105C= (p.Pro702=)
n.3906C=
n.3910C=
1g.1048099C>GCA337852602AGRNc.3839C>G (p.Pro1280Arg)
c.3524C>G (p.Pro1175Arg)
c.3425C>G (p.Pro1142Arg)
c.2966C>G (p.Pro989Arg)
c.2105C>G (p.Pro702Arg)
n.3906C>G
n.3910C>G
1g.1048099C>TCA509257AGRNc.3839C>T (p.Pro1280Leu)
c.3524C>T (p.Pro1175Leu)
c.3425C>T (p.Pro1142Leu)
c.2966C>T (p.Pro989Leu)
c.2105C>T (p.Pro702Leu)
n.3906C>T
n.3910C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048100G>ACA509258AGRNc.3840G>A (p.Pro1280=)
c.3525G>A (p.Pro1175=)
c.3426G>A (p.Pro1142=)
c.2967G>A (p.Pro989=)
c.2106G>A (p.Pro702=)
n.3907G>A
n.3911G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048100G>CCA415758104AGRNc.3840G>C (p.Pro1280=)
c.3525G>C (p.Pro1175=)
c.3426G>C (p.Pro1142=)
c.2967G>C (p.Pro989=)
c.2106G>C (p.Pro702=)
n.3907G>C
n.3911G>C
1g.1048100G=CA1148803768AGRNc.3840G= (p.Pro1280=)
c.3525G= (p.Pro1175=)
c.3426G= (p.Pro1142=)
c.2967G= (p.Pro989=)
c.2106G= (p.Pro702=)
n.3907G=
n.3911G=
1g.1048100G>TCA415758105AGRNc.3840G>T (p.Pro1280=)
c.3525G>T (p.Pro1175=)
c.3426G>T (p.Pro1142=)
c.2967G>T (p.Pro989=)
c.2106G>T (p.Pro702=)
n.3907G>T
n.3911G>T
 dbSNP gnomAD v2 gnomAD v4
1g.1048101T>ACA337852607AGRNc.3841T>A (p.Ser1281Thr)
c.3526T>A (p.Ser1176Thr)
c.3427T>A (p.Ser1143Thr)
c.2968T>A (p.Ser990Thr)
c.2107T>A (p.Ser703Thr)
n.3908T>A
n.3912T>A
1g.1048101T>CCA337852611AGRNc.3841T>C (p.Ser1281Pro)
c.3526T>C (p.Ser1176Pro)
c.3427T>C (p.Ser1143Pro)
c.2968T>C (p.Ser990Pro)
c.2107T>C (p.Ser703Pro)
n.3908T>C
n.3912T>C
 gnomAD v4
1g.1048101T>GCA337852613AGRNc.3841T>G (p.Ser1281Ala)
c.3526T>G (p.Ser1176Ala)
c.3427T>G (p.Ser1143Ala)
c.2968T>G (p.Ser990Ala)
c.2107T>G (p.Ser703Ala)
n.3908T>G
n.3912T>G
1g.1048102C>ACA337852616AGRNc.3842C>A (p.Ser1281Tyr)
c.3527C>A (p.Ser1176Tyr)
c.3428C>A (p.Ser1143Tyr)
c.2969C>A (p.Ser990Tyr)
c.2108C>A (p.Ser703Tyr)
n.3909C>A
n.3913C>A
1g.1048102C=CA1148803782AGRNc.3842C= (p.Ser1281=)
c.3527C= (p.Ser1176=)
c.3428C= (p.Ser1143=)
c.2969C= (p.Ser990=)
c.2108C= (p.Ser703=)
n.3909C=
n.3913C=
1g.1048102C>GCA337852619AGRNc.3842C>G (p.Ser1281Cys)
c.3527C>G (p.Ser1176Cys)
c.3428C>G (p.Ser1143Cys)
c.2969C>G (p.Ser990Cys)
c.2108C>G (p.Ser703Cys)
n.3909C>G
n.3913C>G
1g.1048102C>TCA337852621AGRNc.3842C>T (p.Ser1281Phe)
c.3527C>T (p.Ser1176Phe)
c.3428C>T (p.Ser1143Phe)
c.2969C>T (p.Ser990Phe)
c.2108C>T (p.Ser703Phe)
n.3909C>T
n.3913C>T
 dbSNP gnomAD v2 gnomAD v4
1g.1048102_1048104delinsCCTCA1148803804AGRNc.3842_3844delinsCCT (p.Ser1281=)
c.3527_3529delinsCCT (p.Ser1176=)
c.3428_3430delinsCCT (p.Ser1143=)
c.2969_2971delinsCCT (p.Ser990=)
c.2108_2110delinsCCT (p.Ser703=)
n.3909_3911delinsCCT
n.3913_3915delinsCCT
1g.1048103C>ACA415758109AGRNc.3843C>A (p.Ser1281=)
c.3528C>A (p.Ser1176=)
c.3429C>A (p.Ser1143=)
c.2970C>A (p.Ser990=)
c.2109C>A (p.Ser703=)
n.3910C>A
n.3914C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1048103C=CA1148803812AGRNc.3843C= (p.Ser1281=)
c.3528C= (p.Ser1176=)
c.3429C= (p.Ser1143=)
c.2970C= (p.Ser990=)
c.2109C= (p.Ser703=)
n.3910C=
n.3914C=
1g.1048103C>GCA415758110AGRNc.3843C>G (p.Ser1281=)
c.3528C>G (p.Ser1176=)
c.3429C>G (p.Ser1143=)
c.2970C>G (p.Ser990=)
c.2109C>G (p.Ser703=)
n.3910C>G
n.3914C>G
1g.1048103C>TCA415758111AGRNc.3843C>T (p.Ser1281=)
c.3528C>T (p.Ser1176=)
c.3429C>T (p.Ser1143=)
c.2970C>T (p.Ser990=)
c.2109C>T (p.Ser703=)
n.3910C>T
n.3914C>T
 dbSNP gnomAD v4
1g.1048105_1048106delCA884898092AGRNc.3845_3846del (p.Ser1282CysfsTer?)
c.3530_3531del (p.Ser1177CysfsTer?)
c.3431_3432del (p.Ser1144CysfsTer?)
c.2972_2973del (p.Ser991CysfsTer?)
c.2111_2112del (p.Ser704CysfsTer?)
n.3912_3913del
n.3916_3917del
 dbSNP
1g.1048104T>ACA337852626AGRNc.3844T>A (p.Ser1282Thr)
c.3529T>A (p.Ser1177Thr)
c.3430T>A (p.Ser1144Thr)
c.2971T>A (p.Ser991Thr)
c.2110T>A (p.Ser704Thr)
n.3911T>A
n.3915T>A
1g.1048104T>CCA337852635AGRNc.3844T>C (p.Ser1282Pro)
c.3529T>C (p.Ser1177Pro)
c.3430T>C (p.Ser1144Pro)
c.2971T>C (p.Ser991Pro)
c.2110T>C (p.Ser704Pro)
n.3911T>C
n.3915T>C
 ClinVar dbSNP
1g.1048104T>GCA337852638AGRNc.3844T>G (p.Ser1282Ala)
c.3529T>G (p.Ser1177Ala)
c.3430T>G (p.Ser1144Ala)
c.2971T>G (p.Ser991Ala)
c.2110T>G (p.Ser704Ala)
n.3911T>G
n.3915T>G
1g.1048104T=CA1148803830AGRNc.3844T= (p.Ser1282=)
c.3529T= (p.Ser1177=)
c.3430T= (p.Ser1144=)
c.2971T= (p.Ser991=)
c.2110T= (p.Ser704=)
n.3911T=
n.3915T=
1g.1048105C>ACA337852651AGRNc.3845C>A (p.Ser1282Tyr)
c.3530C>A (p.Ser1177Tyr)
c.3431C>A (p.Ser1144Tyr)
c.2972C>A (p.Ser991Tyr)
c.2111C>A (p.Ser704Tyr)
n.3912C>A
n.3916C>A
 gnomAD v4
1g.1048105C>GCA337852655AGRNc.3845C>G (p.Ser1282Cys)
c.3530C>G (p.Ser1177Cys)
c.3431C>G (p.Ser1144Cys)
c.2972C>G (p.Ser991Cys)
c.2111C>G (p.Ser704Cys)
n.3912C>G
n.3916C>G
1g.1048105C>TCA337852641AGRNc.3845C>T (p.Ser1282Phe)
c.3530C>T (p.Ser1177Phe)
c.3431C>T (p.Ser1144Phe)
c.2972C>T (p.Ser991Phe)
c.2111C>T (p.Ser704Phe)
n.3912C>T
n.3916C>T
1g.1048106T>ACA415758122AGRNc.3846T>A (p.Ser1282=)
c.3531T>A (p.Ser1177=)
c.3432T>A (p.Ser1144=)
c.2973T>A (p.Ser991=)
c.2112T>A (p.Ser704=)
n.3913T>A
n.3917T>A
1g.1048106T>CCA415758121AGRNc.3846T>C (p.Ser1282=)
c.3531T>C (p.Ser1177=)
c.3432T>C (p.Ser1144=)
c.2973T>C (p.Ser991=)
c.2112T>C (p.Ser704=)
n.3913T>C
n.3917T>C
1g.1048106T>GCA415758120AGRNc.3846T>G (p.Ser1282=)
c.3531T>G (p.Ser1177=)
c.3432T>G (p.Ser1144=)
c.2973T>G (p.Ser991=)
c.2112T>G (p.Ser704=)
n.3913T>G
n.3917T>G
 gnomAD v4
1g.1048107G>ACA337852657AGRNc.3847G>A (p.Ala1283Thr)
c.3532G>A (p.Ala1178Thr)
c.3433G>A (p.Ala1145Thr)
c.2974G>A (p.Ala992Thr)
c.2113G>A (p.Ala705Thr)
n.3914G>A
n.3918G>A
 dbSNP gnomAD v4
1g.1048107G>CCA337852658AGRNc.3847G>C (p.Ala1283Pro)
c.3532G>C (p.Ala1178Pro)
c.3433G>C (p.Ala1145Pro)
c.2974G>C (p.Ala992Pro)
c.2113G>C (p.Ala705Pro)
n.3914G>C
n.3918G>C
1g.1048107G=CA1148803862AGRNc.3847G= (p.Ala1283=)
c.3532G= (p.Ala1178=)
c.3433G= (p.Ala1145=)
c.2974G= (p.Ala992=)
c.2113G= (p.Ala705=)
n.3914G=
n.3918G=
1g.1048107G>TCA509259AGRNc.3847G>T (p.Ala1283Ser)
c.3532G>T (p.Ala1178Ser)
c.3433G>T (p.Ala1145Ser)
c.2974G>T (p.Ala992Ser)
c.2113G>T (p.Ala705Ser)
n.3914G>T
n.3918G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1048108C>ACA337852661AGRNc.3848C>A (p.Ala1283Asp)
c.3533C>A (p.Ala1178Asp)
c.3434C>A (p.Ala1145Asp)
c.2975C>A (p.Ala992Asp)
c.2114C>A (p.Ala705Asp)
n.3915C>A
n.3919C>A
 gnomAD v4
1g.1048108C>GCA337852663AGRNc.3848C>G (p.Ala1283Gly)
c.3533C>G (p.Ala1178Gly)
c.3434C>G (p.Ala1145Gly)
c.2975C>G (p.Ala992Gly)
c.2114C>G (p.Ala705Gly)
n.3915C>G
n.3919C>G
1g.1048108C>TCA337852664AGRNc.3848C>T (p.Ala1283Val)
c.3533C>T (p.Ala1178Val)
c.3434C>T (p.Ala1145Val)
c.2975C>T (p.Ala992Val)
c.2114C>T (p.Ala705Val)
n.3915C>T
n.3919C>T
 gnomAD v4
1g.1048109T>ACA415758126AGRNc.3849T>A (p.Ala1283=)
c.3534T>A (p.Ala1178=)
c.3435T>A (p.Ala1145=)
c.2976T>A (p.Ala992=)
c.2115T>A (p.Ala705=)
n.3916T>A
n.3920T>A
1g.1048109T>CCA415758128AGRNc.3849T>C (p.Ala1283=)
c.3534T>C (p.Ala1178=)
c.3435T>C (p.Ala1145=)
c.2976T>C (p.Ala992=)
c.2115T>C (p.Ala705=)
n.3916T>C
n.3920T>C
1g.1048109T>GCA415758133AGRNc.3849T>G (p.Ala1283=)
c.3534T>G (p.Ala1178=)
c.3435T>G (p.Ala1145=)
c.2976T>G (p.Ala992=)
c.2115T>G (p.Ala705=)
n.3916T>G
n.3920T>G
1g.1048110G>ACA337852672AGRNc.3850G>A (p.Val1284Met)
c.3535G>A (p.Val1179Met)
c.3436G>A (p.Val1146Met)
c.2977G>A (p.Val993Met)
c.2116G>A (p.Val706Met)
n.3917G>A
n.3921G>A
 gnomAD v4
1g.1048110G>CCA337852674AGRNc.3850G>C (p.Val1284Leu)
c.3535G>C (p.Val1179Leu)
c.3436G>C (p.Val1146Leu)
c.2977G>C (p.Val993Leu)
c.2116G>C (p.Val706Leu)
n.3917G>C
n.3921G>C
1g.1048110G>TCA337852679AGRNc.3850G>T (p.Val1284Leu)
c.3535G>T (p.Val1179Leu)
c.3436G>T (p.Val1146Leu)
c.2977G>T (p.Val993Leu)
c.2116G>T (p.Val706Leu)
n.3917G>T
n.3921G>T
 gnomAD v4
1g.1048111T>ACA337852691AGRNc.3851T>A (p.Val1284Glu)
c.3536T>A (p.Val1179Glu)
c.3437T>A (p.Val1146Glu)
c.2978T>A (p.Val993Glu)
c.2117T>A (p.Val706Glu)
n.3918T>A
n.3922T>A
1g.1048111T>CCA337852694AGRNc.3851T>C (p.Val1284Ala)
c.3536T>C (p.Val1179Ala)
c.3437T>C (p.Val1146Ala)
c.2978T>C (p.Val993Ala)
c.2117T>C (p.Val706Ala)
n.3918T>C
n.3922T>C
1g.1048111T>GCA337852697AGRNc.3851T>G (p.Val1284Gly)
c.3536T>G (p.Val1179Gly)
c.3437T>G (p.Val1146Gly)
c.2978T>G (p.Val993Gly)
c.2117T>G (p.Val706Gly)
n.3918T>G
n.3922T>G
1g.1048112G>ACA415758142AGRNc.3852G>A (p.Val1284=)
c.3537G>A (p.Val1179=)
c.3438G>A (p.Val1146=)
c.2979G>A (p.Val993=)
c.2118G>A (p.Val706=)
n.3919G>A
n.3923G>A
1g.1048112G>CCA415758143AGRNc.3852G>C (p.Val1284=)
c.3537G>C (p.Val1179=)
c.3438G>C (p.Val1146=)
c.2979G>C (p.Val993=)
c.2118G>C (p.Val706=)
n.3919G>C
n.3923G>C
1g.1048112G>TCA415758144AGRNc.3852G>T (p.Val1284=)
c.3537G>T (p.Val1179=)
c.3438G>T (p.Val1146=)
c.2979G>T (p.Val993=)
c.2118G>T (p.Val706=)
n.3919G>T
n.3923G>T
 gnomAD v4
1g.1048113A>CCA337852702AGRNc.3853A>C (p.Thr1285Pro)
c.3538A>C (p.Thr1180Pro)
c.3439A>C (p.Thr1147Pro)
c.2980A>C (p.Thr994Pro)
c.2119A>C (p.Thr707Pro)
n.3920A>C
n.3924A>C
1g.1048113A>GCA337852704AGRNc.3853A>G (p.Thr1285Ala)
c.3538A>G (p.Thr1180Ala)
c.3439A>G (p.Thr1147Ala)
c.2980A>G (p.Thr994Ala)
c.2119A>G (p.Thr707Ala)
n.3920A>G
n.3924A>G
1g.1048113A>TCA337852700AGRNc.3853A>T (p.Thr1285Ser)
c.3538A>T (p.Thr1180Ser)
c.3439A>T (p.Thr1147Ser)
c.2980A>T (p.Thr994Ser)
c.2119A>T (p.Thr707Ser)
n.3920A>T
n.3924A>T
1g.1048114C>ACA337852707AGRNc.3854C>A (p.Thr1285Asn)
c.3539C>A (p.Thr1180Asn)
c.3440C>A (p.Thr1147Asn)
c.2981C>A (p.Thr994Asn)
c.2120C>A (p.Thr707Asn)
n.3921C>A
n.3925C>A
 gnomAD v4
1g.1048114C=CA1148803874AGRNc.3854C= (p.Thr1285=)
c.3539C= (p.Thr1180=)
c.3440C= (p.Thr1147=)
c.2981C= (p.Thr994=)
c.2120C= (p.Thr707=)
n.3921C=
n.3925C=
1g.1048114C>GCA337852708AGRNc.3854C>G (p.Thr1285Ser)
c.3539C>G (p.Thr1180Ser)
c.3440C>G (p.Thr1147Ser)
c.2981C>G (p.Thr994Ser)
c.2120C>G (p.Thr707Ser)
n.3921C>G
n.3925C>G
1g.1048114C>TCA337852710AGRNc.3854C>T (p.Thr1285Ile)
c.3539C>T (p.Thr1180Ile)
c.3440C>T (p.Thr1147Ile)
c.2981C>T (p.Thr994Ile)
c.2120C>T (p.Thr707Ile)
n.3921C>T
n.3925C>T
 dbSNP gnomAD v2 gnomAD v4
1g.1048115C>ACA509260AGRNc.3855C>A (p.Thr1285=)
c.3540C>A (p.Thr1180=)
c.3441C>A (p.Thr1147=)
c.2982C>A (p.Thr994=)
c.2121C>A (p.Thr707=)
n.3922C>A
n.3926C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1048115C=CA1148803877AGRNc.3855C= (p.Thr1285=)
c.3540C= (p.Thr1180=)
c.3441C= (p.Thr1147=)
c.2982C= (p.Thr994=)
c.2121C= (p.Thr707=)
n.3922C=
n.3926C=
1g.1048115C>GCA415758148AGRNc.3855C>G (p.Thr1285=)
c.3540C>G (p.Thr1180=)
c.3441C>G (p.Thr1147=)
c.2982C>G (p.Thr994=)
c.2121C>G (p.Thr707=)
n.3922C>G
n.3926C>G
1g.1048115C>TCA415758151AGRNc.3855C>T (p.Thr1285=)
c.3540C>T (p.Thr1180=)
c.3441C>T (p.Thr1147=)
c.2982C>T (p.Thr994=)
c.2121C>T (p.Thr707=)
n.3922C>T
n.3926C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1048116C>ACA337852711AGRNc.3856C>A (p.Pro1286Thr)
c.3541C>A (p.Pro1181Thr)
c.3442C>A (p.Pro1148Thr)
c.2983C>A (p.Pro995Thr)
c.2122C>A (p.Pro708Thr)
n.3923C>A
n.3927C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1048116C=CA1148803904AGRNc.3856C= (p.Pro1286=)
c.3541C= (p.Pro1181=)
c.3442C= (p.Pro1148=)
c.2983C= (p.Pro995=)
c.2122C= (p.Pro708=)
n.3923C=
n.3927C=
1g.1048116C>GCA337852713AGRNc.3856C>G (p.Pro1286Ala)
c.3541C>G (p.Pro1181Ala)
c.3442C>G (p.Pro1148Ala)
c.2983C>G (p.Pro995Ala)
c.2122C>G (p.Pro708Ala)
n.3923C>G
n.3927C>G
1g.1048116C>TCA509261AGRNc.3856C>T (p.Pro1286Ser)
c.3541C>T (p.Pro1181Ser)
c.3442C>T (p.Pro1148Ser)
c.2983C>T (p.Pro995Ser)
c.2122C>T (p.Pro708Ser)
n.3923C>T
n.3927C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.1048117C>ACA509262AGRNc.3857C>A (p.Pro1286His)
c.3542C>A (p.Pro1181His)
c.3443C>A (p.Pro1148His)
c.2984C>A (p.Pro995His)
c.2123C>A (p.Pro708His)
n.3924C>A
n.3928C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1048117C=CA1148803911AGRNc.3857C= (p.Pro1286=)
c.3542C= (p.Pro1181=)
c.3443C= (p.Pro1148=)
c.2984C= (p.Pro995=)
c.2123C= (p.Pro708=)
n.3924C=
n.3928C=
1g.1048117C>GCA337852718AGRNc.3857C>G (p.Pro1286Arg)
c.3542C>G (p.Pro1181Arg)
c.3443C>G (p.Pro1148Arg)
c.2984C>G (p.Pro995Arg)
c.2123C>G (p.Pro708Arg)
n.3924C>G
n.3928C>G
 dbSNP gnomAD v4
1g.1048117C>TCA337852716AGRNc.3857C>T (p.Pro1286Leu)
c.3542C>T (p.Pro1181Leu)
c.3443C>T (p.Pro1148Leu)
c.2984C>T (p.Pro995Leu)
c.2123C>T (p.Pro708Leu)
n.3924C>T
n.3928C>T
1g.1048118T>ACA415758156AGRNc.3858T>A (p.Pro1286=)
c.3543T>A (p.Pro1181=)
c.3444T>A (p.Pro1148=)
c.2985T>A (p.Pro995=)
c.2124T>A (p.Pro708=)
n.3925T>A
n.3929T>A
1g.1048118T>CCA415758159AGRNc.3858T>C (p.Pro1286=)
c.3543T>C (p.Pro1181=)
c.3444T>C (p.Pro1148=)
c.2985T>C (p.Pro995=)
c.2124T>C (p.Pro708=)
n.3925T>C
n.3929T>C
 gnomAD v4
1g.1048118T>GCA415758158AGRNc.3858T>G (p.Pro1286=)
c.3543T>G (p.Pro1181=)
c.3444T>G (p.Pro1148=)
c.2985T>G (p.Pro995=)
c.2124T>G (p.Pro708=)
n.3925T>G
n.3929T>G
1g.1048119C>ACA415758162AGRNc.3859C>A (p.Arg1287=)
c.3544C>A (p.Arg1182=)
c.3445C>A (p.Arg1149=)
c.2986C>A (p.Arg996=)
c.2125C>A (p.Arg709=)
n.3926C>A
n.3930C>A
 gnomAD v4
1g.1048119C=CA1148803921AGRNc.3859C= (p.Arg1287=)
c.3544C= (p.Arg1182=)
c.3445C= (p.Arg1149=)
c.2986C= (p.Arg996=)
c.2125C= (p.Arg709=)
n.3926C=
n.3930C=
1g.1048119C>GCA337852720AGRNc.3859C>G (p.Arg1287Gly)
c.3544C>G (p.Arg1182Gly)
c.3445C>G (p.Arg1149Gly)
c.2986C>G (p.Arg996Gly)
c.2125C>G (p.Arg709Gly)
n.3926C>G
n.3930C>G
1g.1048119C>TCA509263AGRNc.3859C>T (p.Arg1287Trp)
c.3544C>T (p.Arg1182Trp)
c.3445C>T (p.Arg1149Trp)
c.2986C>T (p.Arg996Trp)
c.2125C>T (p.Arg709Trp)
n.3926C>T
n.3930C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048120G>ACA337852723AGRNc.3860G>A (p.Arg1287Gln)
c.3545G>A (p.Arg1182Gln)
c.3446G>A (p.Arg1149Gln)
c.2987G>A (p.Arg996Gln)
c.2126G>A (p.Arg709Gln)
n.3927G>A
n.3931G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1048120G>CCA337852725AGRNc.3860G>C (p.Arg1287Pro)
c.3545G>C (p.Arg1182Pro)
c.3446G>C (p.Arg1149Pro)
c.2987G>C (p.Arg996Pro)
c.2126G>C (p.Arg709Pro)
n.3927G>C
n.3931G>C
1g.1048120G=CA1148803938AGRNc.3860G= (p.Arg1287=)
c.3545G= (p.Arg1182=)
c.3446G= (p.Arg1149=)
c.2987G= (p.Arg996=)
c.2126G= (p.Arg709=)
n.3927G=
n.3931G=
1g.1048120G>TCA337852726AGRNc.3860G>T (p.Arg1287Leu)
c.3545G>T (p.Arg1182Leu)
c.3446G>T (p.Arg1149Leu)
c.2987G>T (p.Arg996Leu)
c.2126G>T (p.Arg709Leu)
n.3927G>T
n.3931G>T
 gnomAD v4
1g.1048121G>ACA509264AGRNc.3861G>A (p.Arg1287=)
c.3546G>A (p.Arg1182=)
c.3447G>A (p.Arg1149=)
c.2988G>A (p.Arg996=)
c.2127G>A (p.Arg709=)
n.3928G>A
n.3932G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048121G>CCA415758169AGRNc.3861G>C (p.Arg1287=)
c.3546G>C (p.Arg1182=)
c.3447G>C (p.Arg1149=)
c.2988G>C (p.Arg996=)
c.2127G>C (p.Arg709=)
n.3928G>C
n.3932G>C
 gnomAD v4
1g.1048121G=CA1148803965AGRNc.3861G= (p.Arg1287=)
c.3546G= (p.Arg1182=)
c.3447G= (p.Arg1149=)
c.2988G= (p.Arg996=)
c.2127G= (p.Arg709=)
n.3928G=
n.3932G=
1g.1048121G>TCA415758171AGRNc.3861G>T (p.Arg1287=)
c.3546G>T (p.Arg1182=)
c.3447G>T (p.Arg1149=)
c.2988G>T (p.Arg996=)
c.2127G>T (p.Arg709=)
n.3928G>T
n.3932G>T
 gnomAD v4
1g.1048122G>ACA337852747AGRNc.3862G>A (p.Ala1288Thr)
c.3547G>A (p.Ala1183Thr)
c.3448G>A (p.Ala1150Thr)
c.2989G>A (p.Ala997Thr)
c.2128G>A (p.Ala710Thr)
n.3929G>A
n.3933G>A
 gnomAD v4
1g.1048122G>CCA337852727AGRNc.3862G>C (p.Ala1288Pro)
c.3547G>C (p.Ala1183Pro)
c.3448G>C (p.Ala1150Pro)
c.2989G>C (p.Ala997Pro)
c.2128G>C (p.Ala710Pro)
n.3929G>C
n.3933G>C
1g.1048122G>TCA337852754AGRNc.3862G>T (p.Ala1288Ser)
c.3547G>T (p.Ala1183Ser)
c.3448G>T (p.Ala1150Ser)
c.2989G>T (p.Ala997Ser)
c.2128G>T (p.Ala710Ser)
n.3929G>T
n.3933G>T
 gnomAD v4
1g.1048123C>ACA337852757AGRNc.3863C>A (p.Ala1288Asp)
c.3548C>A (p.Ala1183Asp)
c.3449C>A (p.Ala1150Asp)
c.2990C>A (p.Ala997Asp)
c.2129C>A (p.Ala710Asp)
n.3930C>A
n.3934C>A
 gnomAD v4
1g.1048123C>GCA337852761AGRNc.3863C>G (p.Ala1288Gly)
c.3548C>G (p.Ala1183Gly)
c.3449C>G (p.Ala1150Gly)
c.2990C>G (p.Ala997Gly)
c.2129C>G (p.Ala710Gly)
n.3930C>G
n.3934C>G
1g.1048123C>TCA337852759AGRNc.3863C>T (p.Ala1288Val)
c.3548C>T (p.Ala1183Val)
c.3449C>T (p.Ala1150Val)
c.2990C>T (p.Ala997Val)
c.2129C>T (p.Ala710Val)
n.3930C>T
n.3934C>T
 gnomAD v4
1g.1048126delCA2574258706AGRNc.3866del (p.Pro1289ArgfsTer?)
c.3551del (p.Pro1184ArgfsTer?)
c.3452del (p.Pro1151ArgfsTer?)
c.2993del (p.Pro998ArgfsTer?)
c.2132del (p.Pro711ArgfsTer?)
n.3933del
n.3937del
 gnomAD v4
1g.1048124C>ACA415758173AGRNc.3864C>A (p.Ala1288=)
c.3549C>A (p.Ala1183=)
c.3450C>A (p.Ala1150=)
c.2991C>A (p.Ala997=)
c.2130C>A (p.Ala710=)
n.3931C>A
n.3935C>A
1g.1048124C>GCA415758175AGRNc.3864C>G (p.Ala1288=)
c.3549C>G (p.Ala1183=)
c.3450C>G (p.Ala1150=)
c.2991C>G (p.Ala997=)
c.2130C>G (p.Ala710=)
n.3931C>G
n.3935C>G
1g.1048124C>TCA415758176AGRNc.3864C>T (p.Ala1288=)
c.3549C>T (p.Ala1183=)
c.3450C>T (p.Ala1150=)
c.2991C>T (p.Ala997=)
c.2130C>T (p.Ala710=)
n.3931C>T
n.3935C>T
 ClinVar
1g.1048125C>ACA337852762AGRNc.3865C>A (p.Pro1289Thr)
c.3550C>A (p.Pro1184Thr)
c.3451C>A (p.Pro1151Thr)
c.2992C>A (p.Pro998Thr)
c.2131C>A (p.Pro711Thr)
n.3932C>A
n.3936C>A
 gnomAD v4
1g.1048125C>GCA337852763AGRNc.3865C>G (p.Pro1289Ala)
c.3550C>G (p.Pro1184Ala)
c.3451C>G (p.Pro1151Ala)
c.2992C>G (p.Pro998Ala)
c.2131C>G (p.Pro711Ala)
n.3932C>G
n.3936C>G
1g.1048125C>TCA337852764AGRNc.3865C>T (p.Pro1289Ser)
c.3550C>T (p.Pro1184Ser)
c.3451C>T (p.Pro1151Ser)
c.2992C>T (p.Pro998Ser)
c.2131C>T (p.Pro711Ser)
n.3932C>T
n.3936C>T
 ClinVar dbSNP gnomAD v4
1g.1048126C>ACA337852765AGRNc.3866C>A (p.Pro1289Gln)
c.3551C>A (p.Pro1184Gln)
c.3452C>A (p.Pro1151Gln)
c.2993C>A (p.Pro998Gln)
c.2132C>A (p.Pro711Gln)
n.3933C>A
n.3937C>A
 gnomAD v4
1g.1048126C=CA1141670886AGRNc.3866C= (p.Pro1289=)
c.3551C= (p.Pro1184=)
c.3452C= (p.Pro1151=)
c.2993C= (p.Pro998=)
c.2132C= (p.Pro711=)
n.3933C=
n.3937C=
1g.1048126C>GCA337852766AGRNc.3866C>G (p.Pro1289Arg)
c.3551C>G (p.Pro1184Arg)
c.3452C>G (p.Pro1151Arg)
c.2993C>G (p.Pro998Arg)
c.2132C>G (p.Pro711Arg)
n.3933C>G
n.3937C>G
 gnomAD v4
1g.1048126C>TCA151645AGRNc.3866C>T (p.Pro1289Leu)
c.3551C>T (p.Pro1184Leu)
c.3452C>T (p.Pro1151Leu)
c.2993C>T (p.Pro998Leu)
c.2132C>T (p.Pro711Leu)
n.3933C>T
n.3937C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048127G>ACA509265AGRNc.3867G>A (p.Pro1289=)
c.3552G>A (p.Pro1184=)
c.3453G>A (p.Pro1151=)
c.2994G>A (p.Pro998=)
c.2133G>A (p.Pro711=)
n.3934G>A
n.3938G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048127G>CCA415758185AGRNc.3867G>C (p.Pro1289=)
c.3552G>C (p.Pro1184=)
c.3453G>C (p.Pro1151=)
c.2994G>C (p.Pro998=)
c.2133G>C (p.Pro711=)
n.3934G>C
n.3938G>C
1g.1048127G=CA1143833067AGRNc.3867G= (p.Pro1289=)
c.3552G= (p.Pro1184=)
c.3453G= (p.Pro1151=)
c.2994G= (p.Pro998=)
c.2133G= (p.Pro711=)
n.3934G=
n.3938G=
1g.1048127G>TCA415758183AGRNc.3867G>T (p.Pro1289=)
c.3552G>T (p.Pro1184=)
c.3453G>T (p.Pro1151=)
c.2994G>T (p.Pro998=)
c.2133G>T (p.Pro711=)
n.3934G>T
n.3938G>T
 gnomAD v4
1g.1048128C>ACA337852767AGRNc.3868C>A (p.His1290Asn)
c.3553C>A (p.His1185Asn)
c.3454C>A (p.His1152Asn)
c.2995C>A (p.His999Asn)
c.2134C>A (p.His712Asn)
n.3935C>A
n.3939C>A
 gnomAD v4
1g.1048128C>GCA337852770AGRNc.3868C>G (p.His1290Asp)
c.3553C>G (p.His1185Asp)
c.3454C>G (p.His1152Asp)
c.2995C>G (p.His999Asp)
c.2134C>G (p.His712Asp)
n.3935C>G
n.3939C>G
1g.1048128C>TCA337852773AGRNc.3868C>T (p.His1290Tyr)
c.3553C>T (p.His1185Tyr)
c.3454C>T (p.His1152Tyr)
c.2995C>T (p.His999Tyr)
c.2134C>T (p.His712Tyr)
n.3935C>T
n.3939C>T
1g.1048129A=CA1148803998AGRNc.3869A= (p.His1290=)
c.3554A= (p.His1185=)
c.3455A= (p.His1152=)
c.2996A= (p.His999=)
c.2135A= (p.His712=)
n.3936A=
n.3940A=
1g.1048129A>CCA509266AGRNc.3869A>C (p.His1290Pro)
c.3554A>C (p.His1185Pro)
c.3455A>C (p.His1152Pro)
c.2996A>C (p.His999Pro)
c.2135A>C (p.His712Pro)
n.3936A>C
n.3940A>C
 dbSNP ExAC gnomAD v4
1g.1048129A>GCA337852777AGRNc.3869A>G (p.His1290Arg)
c.3554A>G (p.His1185Arg)
c.3455A>G (p.His1152Arg)
c.2996A>G (p.His999Arg)
c.2135A>G (p.His712Arg)
n.3936A>G
n.3940A>G
 dbSNP gnomAD v2 gnomAD v4
1g.1048129A>TCA337852774AGRNc.3869A>T (p.His1290Leu)
c.3554A>T (p.His1185Leu)
c.3455A>T (p.His1152Leu)
c.2996A>T (p.His999Leu)
c.2135A>T (p.His712Leu)
n.3936A>T
n.3940A>T
1g.1048130C>ACA337852794AGRNc.3870C>A (p.His1290Gln)
c.3555C>A (p.His1185Gln)
c.3456C>A (p.His1152Gln)
c.2997C>A (p.His999Gln)
c.2136C>A (p.His712Gln)
n.3937C>A
n.3941C>A
 ClinVar dbSNP
1g.1048130C=CA1148804004AGRNc.3870C= (p.His1290=)
c.3555C= (p.His1185=)
c.3456C= (p.His1152=)
c.2997C= (p.His999=)
c.2136C= (p.His712=)
n.3937C=
n.3941C=
1g.1048130C>GCA337852798AGRNc.3870C>G (p.His1290Gln)
c.3555C>G (p.His1185Gln)
c.3456C>G (p.His1152Gln)
c.2997C>G (p.His999Gln)
c.2136C>G (p.His712Gln)
n.3937C>G
n.3941C>G
1g.1048130C>TCA415758194AGRNc.3870C>T (p.His1290=)
c.3555C>T (p.His1185=)
c.3456C>T (p.His1152=)
c.2997C>T (p.His999=)
c.2136C>T (p.His712=)
n.3937C>T
n.3941C>T
 dbSNP gnomAD v3 gnomAD v4
1g.1048131C>ACA337852799AGRNc.3871C>A (p.Pro1291Thr)
c.3556C>A (p.Pro1186Thr)
c.3457C>A (p.Pro1153Thr)
c.2998C>A (p.Pro1000Thr)
c.2137C>A (p.Pro713Thr)
n.3938C>A
n.3942C>A
 gnomAD v4
1g.1048131C>GCA337852801AGRNc.3871C>G (p.Pro1291Ala)
c.3556C>G (p.Pro1186Ala)
c.3457C>G (p.Pro1153Ala)
c.2998C>G (p.Pro1000Ala)
c.2137C>G (p.Pro713Ala)
n.3938C>G
n.3942C>G
 gnomAD v4
1g.1048131C>TCA337852803AGRNc.3871C>T (p.Pro1291Ser)
c.3556C>T (p.Pro1186Ser)
c.3457C>T (p.Pro1153Ser)
c.2998C>T (p.Pro1000Ser)
c.2137C>T (p.Pro713Ser)
n.3938C>T
n.3942C>T
 gnomAD v4
1g.1048132C>ACA337852804AGRNc.3872C>A (p.Pro1291His)
c.3557C>A (p.Pro1186His)
c.3458C>A (p.Pro1153His)
c.2999C>A (p.Pro1000His)
c.2138C>A (p.Pro713His)
n.3939C>A
n.3943C>A
 gnomAD v4
1g.1048132C=CA1148804029AGRNc.3872C= (p.Pro1291=)
c.3557C= (p.Pro1186=)
c.3458C= (p.Pro1153=)
c.2999C= (p.Pro1000=)
c.2138C= (p.Pro713=)
n.3939C=
n.3943C=
1g.1048132C>GCA337852805AGRNc.3872C>G (p.Pro1291Arg)
c.3557C>G (p.Pro1186Arg)
c.3458C>G (p.Pro1153Arg)
c.2999C>G (p.Pro1000Arg)
c.2138C>G (p.Pro713Arg)
n.3939C>G
n.3943C>G
 dbSNP gnomAD v2
1g.1048132C>TCA337852806AGRNc.3872C>T (p.Pro1291Leu)
c.3557C>T (p.Pro1186Leu)
c.3458C>T (p.Pro1153Leu)
c.2999C>T (p.Pro1000Leu)
c.2138C>T (p.Pro713Leu)
n.3939C>T
n.3943C>T
 gnomAD v4
1g.1048133C>ACA415758203AGRNc.3873C>A (p.Pro1291=)
c.3558C>A (p.Pro1186=)
c.3459C>A (p.Pro1153=)
c.3000C>A (p.Pro1000=)
c.2139C>A (p.Pro713=)
n.3940C>A
n.3944C>A
 gnomAD v4
1g.1048133C>GCA415758206AGRNc.3873C>G (p.Pro1291=)
c.3558C>G (p.Pro1186=)
c.3459C>G (p.Pro1153=)
c.3000C>G (p.Pro1000=)
c.2139C>G (p.Pro713=)
n.3940C>G
n.3944C>G
 gnomAD v4
1g.1048133C>TCA415758207AGRNc.3873C>T (p.Pro1291=)
c.3558C>T (p.Pro1186=)
c.3459C>T (p.Pro1153=)
c.3000C>T (p.Pro1000=)
c.2139C>T (p.Pro713=)
n.3940C>T
n.3944C>T
 gnomAD v4
1g.1048134A>CCA337852807AGRNc.3874A>C (p.Ser1292Arg)
c.3559A>C (p.Ser1187Arg)
c.3460A>C (p.Ser1154Arg)
c.3001A>C (p.Ser1001Arg)
c.2140A>C (p.Ser714Arg)
n.3941A>C
n.3945A>C
 dbSNP
1g.1048134A>GCA337852808AGRNc.3874A>G (p.Ser1292Gly)
c.3559A>G (p.Ser1187Gly)
c.3460A>G (p.Ser1154Gly)
c.3001A>G (p.Ser1001Gly)
c.2140A>G (p.Ser714Gly)
n.3941A>G
n.3945A>G
 gnomAD v4
1g.1048134A>TCA337852809AGRNc.3874A>T (p.Ser1292Cys)
c.3559A>T (p.Ser1187Cys)
c.3460A>T (p.Ser1154Cys)
c.3001A>T (p.Ser1001Cys)
c.2140A>T (p.Ser714Cys)
n.3941A>T
n.3945A>T
1g.1048135G>ACA337852812AGRNc.3875G>A (p.Ser1292Asn)
c.3560G>A (p.Ser1187Asn)
c.3461G>A (p.Ser1154Asn)
c.3002G>A (p.Ser1001Asn)
c.2141G>A (p.Ser714Asn)
n.3942G>A
n.3946G>A
 dbSNP gnomAD v2
1g.1048135G>CCA337852814AGRNc.3875G>C (p.Ser1292Thr)
c.3560G>C (p.Ser1187Thr)
c.3461G>C (p.Ser1154Thr)
c.3002G>C (p.Ser1001Thr)
c.2141G>C (p.Ser714Thr)
n.3942G>C
n.3946G>C
1g.1048135G=CA1148804030AGRNc.3875G= (p.Ser1292=)
c.3560G= (p.Ser1187=)
c.3461G= (p.Ser1154=)
c.3002G= (p.Ser1001=)
c.2141G= (p.Ser714=)
n.3942G=
n.3946G=
1g.1048135G>TCA337852810AGRNc.3875G>T (p.Ser1292Ile)
c.3560G>T (p.Ser1187Ile)
c.3461G>T (p.Ser1154Ile)
c.3002G>T (p.Ser1001Ile)
c.2141G>T (p.Ser714Ile)
n.3942G>T
n.3946G>T
 gnomAD v4
1g.1048136T>ACA337852816AGRNc.3876T>A (p.Ser1292Arg)
c.3561T>A (p.Ser1187Arg)
c.3462T>A (p.Ser1154Arg)
c.3003T>A (p.Ser1001Arg)
c.2142T>A (p.Ser714Arg)
n.3943T>A
n.3947T>A
 gnomAD v4
1g.1048136T>CCA415758208AGRNc.3876T>C (p.Ser1292=)
c.3561T>C (p.Ser1187=)
c.3462T>C (p.Ser1154=)
c.3003T>C (p.Ser1001=)
c.2142T>C (p.Ser714=)
n.3943T>C
n.3947T>C
 gnomAD v4
1g.1048136T>GCA337852818AGRNc.3876T>G (p.Ser1292Arg)
c.3561T>G (p.Ser1187Arg)
c.3462T>G (p.Ser1154Arg)
c.3003T>G (p.Ser1001Arg)
c.2142T>G (p.Ser714Arg)
n.3943T>G
n.3947T>G
1g.1048136_1048138delinsTCACA1148804032AGRNc.3876_3878delinsTCA (p.Ser1292=)
c.3561_3563delinsTCA (p.Ser1187=)
c.3462_3464delinsTCA (p.Ser1154=)
c.3003_3005delinsTCA (p.Ser1001=)
c.2142_2144delinsTCA (p.Ser714=)
n.3943_3945delinsTCA
n.3947_3949delinsTCA
1g.1048137C>ACA337852823AGRNc.3877C>A (p.His1293Asn)
c.3562C>A (p.His1188Asn)
c.3463C>A (p.His1155Asn)
c.3004C>A (p.His1002Asn)
c.2143C>A (p.His715Asn)
n.3944C>A
n.3948C>A
 gnomAD v4
1g.1048137C>GCA337852824AGRNc.3877C>G (p.His1293Asp)
c.3562C>G (p.His1188Asp)
c.3463C>G (p.His1155Asp)
c.3004C>G (p.His1002Asp)
c.2143C>G (p.His715Asp)
n.3944C>G
n.3948C>G
1g.1048137C>TCA337852826AGRNc.3877C>T (p.His1293Tyr)
c.3562C>T (p.His1188Tyr)
c.3463C>T (p.His1155Tyr)
c.3004C>T (p.His1002Tyr)
c.2143C>T (p.His715Tyr)
n.3944C>T
n.3948C>T
 gnomAD v4
1g.1048141_1048142delCA997654956AGRNc.3881_3882del (p.Thr1294LysfsTer?)
c.3566_3567del (p.Thr1189LysfsTer?)
c.3467_3468del (p.Thr1156LysfsTer?)
c.3008_3009del (p.Thr1003LysfsTer?)
c.2147_2148del (p.Thr716LysfsTer?)
n.3948_3949del
n.3952_3953del
 dbSNP gnomAD v3 gnomAD v4
1g.1048138A>CCA337852831AGRNc.3878A>C (p.His1293Pro)
c.3563A>C (p.His1188Pro)
c.3464A>C (p.His1155Pro)
c.3005A>C (p.His1002Pro)
c.2144A>C (p.His715Pro)
n.3945A>C
n.3949A>C
1g.1048138A>GCA337852827AGRNc.3878A>G (p.His1293Arg)
c.3563A>G (p.His1188Arg)
c.3464A>G (p.His1155Arg)
c.3005A>G (p.His1002Arg)
c.2144A>G (p.His715Arg)
n.3945A>G
n.3949A>G
1g.1048138A>TCA337852828AGRNc.3878A>T (p.His1293Leu)
c.3563A>T (p.His1188Leu)
c.3464A>T (p.His1155Leu)
c.3005A>T (p.His1002Leu)
c.2144A>T (p.His715Leu)
n.3945A>T
n.3949A>T
 gnomAD v4
1g.1048139C>ACA337852833AGRNc.3879C>A (p.His1293Gln)
c.3564C>A (p.His1188Gln)
c.3465C>A (p.His1155Gln)
c.3006C>A (p.His1002Gln)
c.2145C>A (p.His715Gln)
n.3946C>A
n.3950C>A
1g.1048139C>GCA337852835AGRNc.3879C>G (p.His1293Gln)
c.3564C>G (p.His1188Gln)
c.3465C>G (p.His1155Gln)
c.3006C>G (p.His1002Gln)
c.2145C>G (p.His715Gln)
n.3946C>G
n.3950C>G
1g.1048139C>TCA415758217AGRNc.3879C>T (p.His1293=)
c.3564C>T (p.His1188=)
c.3465C>T (p.His1155=)
c.3006C>T (p.His1002=)
c.2145C>T (p.His715=)
n.3946C>T
n.3950C>T
1g.1048140A>CCA337852848AGRNc.3880A>C (p.Thr1294Pro)
c.3565A>C (p.Thr1189Pro)
c.3466A>C (p.Thr1156Pro)
c.3007A>C (p.Thr1003Pro)
c.2146A>C (p.Thr716Pro)
n.3947A>C
n.3951A>C
1g.1048140A>GCA337852850AGRNc.3880A>G (p.Thr1294Ala)
c.3565A>G (p.Thr1189Ala)
c.3466A>G (p.Thr1156Ala)
c.3007A>G (p.Thr1003Ala)
c.2146A>G (p.Thr716Ala)
n.3947A>G
n.3951A>G
1g.1048140A>TCA337852852AGRNc.3880A>T (p.Thr1294Ser)
c.3565A>T (p.Thr1189Ser)
c.3466A>T (p.Thr1156Ser)
c.3007A>T (p.Thr1003Ser)
c.2146A>T (p.Thr716Ser)
n.3947A>T
n.3951A>T
1g.1048141C>ACA337852854AGRNc.3881C>A (p.Thr1294Lys)
c.3566C>A (p.Thr1189Lys)
c.3467C>A (p.Thr1156Lys)
c.3008C>A (p.Thr1003Lys)
c.2147C>A (p.Thr716Lys)
n.3948C>A
n.3952C>A
 gnomAD v4
1g.1048141C=CA1148804039AGRNc.3881C= (p.Thr1294=)
c.3566C= (p.Thr1189=)
c.3467C= (p.Thr1156=)
c.3008C= (p.Thr1003=)
c.2147C= (p.Thr716=)
n.3948C=
n.3952C=
1g.1048141C>GCA337852858AGRNc.3881C>G (p.Thr1294Arg)
c.3566C>G (p.Thr1189Arg)
c.3467C>G (p.Thr1156Arg)
c.3008C>G (p.Thr1003Arg)
c.2147C>G (p.Thr716Arg)
n.3948C>G
n.3952C>G
 ClinVar
1g.1048141C>TCA337852856AGRNc.3881C>T (p.Thr1294Ile)
c.3566C>T (p.Thr1189Ile)
c.3467C>T (p.Thr1156Ile)
c.3008C>T (p.Thr1003Ile)
c.2147C>T (p.Thr716Ile)
n.3948C>T
n.3952C>T
 dbSNP gnomAD v4
1g.1048142A=CA1148804046AGRNc.3882A= (p.Thr1294=)
c.3567A= (p.Thr1189=)
c.3468A= (p.Thr1156=)
c.3009A= (p.Thr1003=)
c.2148A= (p.Thr716=)
n.3949A=
n.3953A=
1g.1048142A>CCA415758226AGRNc.3882A>C (p.Thr1294=)
c.3567A>C (p.Thr1189=)
c.3468A>C (p.Thr1156=)
c.3009A>C (p.Thr1003=)
c.2148A>C (p.Thr716=)
n.3949A>C
n.3953A>C
1g.1048142A>GCA415758224AGRNc.3882A>G (p.Thr1294=)
c.3567A>G (p.Thr1189=)
c.3468A>G (p.Thr1156=)
c.3009A>G (p.Thr1003=)
c.2148A>G (p.Thr716=)
n.3949A>G
n.3953A>G
 dbSNP gnomAD v3 gnomAD v4
1g.1048142A>TCA415758223AGRNc.3882A>T (p.Thr1294=)
c.3567A>T (p.Thr1189=)
c.3468A>T (p.Thr1156=)
c.3009A>T (p.Thr1003=)
c.2148A>T (p.Thr716=)
n.3949A>T
n.3953A>T
1g.1048143A>CCA337852860AGRNc.3883A>C (p.Ser1295Arg)
c.3568A>C (p.Ser1190Arg)
c.3469A>C (p.Ser1157Arg)
c.3010A>C (p.Ser1004Arg)
c.2149A>C (p.Ser717Arg)
n.3950A>C
n.3954A>C
1g.1048143A>GCA337852861AGRNc.3883A>G (p.Ser1295Gly)
c.3568A>G (p.Ser1190Gly)
c.3469A>G (p.Ser1157Gly)
c.3010A>G (p.Ser1004Gly)
c.2149A>G (p.Ser717Gly)
n.3950A>G
n.3954A>G
 gnomAD v4
1g.1048143A>TCA337852864AGRNc.3883A>T (p.Ser1295Cys)
c.3568A>T (p.Ser1190Cys)
c.3469A>T (p.Ser1157Cys)
c.3010A>T (p.Ser1004Cys)
c.2149A>T (p.Ser717Cys)
n.3950A>T
n.3954A>T
1g.1048144G>ACA337852869AGRNc.3884G>A (p.Ser1295Asn)
c.3569G>A (p.Ser1190Asn)
c.3470G>A (p.Ser1157Asn)
c.3011G>A (p.Ser1004Asn)
c.2150G>A (p.Ser717Asn)
n.3951G>A
n.3955G>A
 dbSNP gnomAD v3 gnomAD v4
1g.1048144G>CCA509267AGRNc.3884G>C (p.Ser1295Thr)
c.3569G>C (p.Ser1190Thr)
c.3470G>C (p.Ser1157Thr)
c.3011G>C (p.Ser1004Thr)
c.2150G>C (p.Ser717Thr)
n.3951G>C
n.3955G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1048144G=CA1148804089AGRNc.3884G= (p.Ser1295=)
c.3569G= (p.Ser1190=)
c.3470G= (p.Ser1157=)
c.3011G= (p.Ser1004=)
c.2150G= (p.Ser717=)
n.3951G=
n.3955G=
1g.1048144G>TCA337852879AGRNc.3884G>T (p.Ser1295Ile)
c.3569G>T (p.Ser1190Ile)
c.3470G>T (p.Ser1157Ile)
c.3011G>T (p.Ser1004Ile)
c.2150G>T (p.Ser717Ile)
n.3951G>T
n.3955G>T
 gnomAD v4
1g.1048145C>ACA337852880AGRNc.3885C>A (p.Ser1295Arg)
c.3570C>A (p.Ser1190Arg)
c.3471C>A (p.Ser1157Arg)
c.3012C>A (p.Ser1004Arg)
c.2151C>A (p.Ser717Arg)
n.3952C>A
n.3956C>A
 gnomAD v4
1g.1048145C=CA1148804098AGRNc.3885C= (p.Ser1295=)
c.3570C= (p.Ser1190=)
c.3471C= (p.Ser1157=)
c.3012C= (p.Ser1004=)
c.2151C= (p.Ser717=)
n.3952C=
n.3956C=
1g.1048145C>GCA337852881AGRNc.3885C>G (p.Ser1295Arg)
c.3570C>G (p.Ser1190Arg)
c.3471C>G (p.Ser1157Arg)
c.3012C>G (p.Ser1004Arg)
c.2151C>G (p.Ser717Arg)
n.3952C>G
n.3956C>G
 dbSNP gnomAD v2
1g.1048145C>TCA509268AGRNc.3885C>T (p.Ser1295=)
c.3570C>T (p.Ser1190=)
c.3471C>T (p.Ser1157=)
c.3012C>T (p.Ser1004=)
c.2151C>T (p.Ser717=)
n.3952C>T
n.3956C>T
 dbSNP ExAC gnomAD v4
1g.1048146C>ACA337852882AGRNc.3886C>A (p.Gln1296Lys)
c.3571C>A (p.Gln1191Lys)
c.3472C>A (p.Gln1158Lys)
c.3013C>A (p.Gln1005Lys)
c.2152C>A (p.Gln718Lys)
n.3953C>A
n.3957C>A
 gnomAD v4
1g.1048146C=CA1148804104AGRNc.3886C= (p.Gln1296=)
c.3571C= (p.Gln1191=)
c.3472C= (p.Gln1158=)
c.3013C= (p.Gln1005=)
c.2152C= (p.Gln718=)
n.3953C=
n.3957C=
1g.1048146C>GCA337852884AGRNc.3886C>G (p.Gln1296Glu)
c.3571C>G (p.Gln1191Glu)
c.3472C>G (p.Gln1158Glu)
c.3013C>G (p.Gln1005Glu)
c.2152C>G (p.Gln718Glu)
n.3953C>G
n.3957C>G
1g.1048146C>TCA337852886AGRNc.3886C>T (p.Gln1296Ter)
c.3571C>T (p.Gln1191Ter)
c.3472C>T (p.Gln1158Ter)
c.3013C>T (p.Gln1005Ter)
c.2152C>T (p.Gln718Ter)
n.3953C>T
n.3957C>T
 dbSNP gnomAD v2 gnomAD v4
1g.1048147A>CCA337852890AGRNc.3887A>C (p.Gln1296Pro)
c.3572A>C (p.Gln1191Pro)
c.3473A>C (p.Gln1158Pro)
c.3014A>C (p.Gln1005Pro)
c.2153A>C (p.Gln718Pro)
n.3954A>C
n.3958A>C
1g.1048147A>GCA337852894AGRNc.3887A>G (p.Gln1296Arg)
c.3572A>G (p.Gln1191Arg)
c.3473A>G (p.Gln1158Arg)
c.3014A>G (p.Gln1005Arg)
c.2153A>G (p.Gln718Arg)
n.3954A>G
n.3958A>G
1g.1048147A>TCA337852889AGRNc.3887A>T (p.Gln1296Leu)
c.3572A>T (p.Gln1191Leu)
c.3473A>T (p.Gln1158Leu)
c.3014A>T (p.Gln1005Leu)
c.2153A>T (p.Gln718Leu)
n.3954A>T
n.3958A>T
1g.1048148G>ACA415758239AGRNc.3888G>A (p.Gln1296=)
c.3573G>A (p.Gln1191=)
c.3474G>A (p.Gln1158=)
c.3015G>A (p.Gln1005=)
c.2154G>A (p.Gln718=)
n.3955G>A
n.3959G>A
 gnomAD v4
1g.1048148G>CCA337852897AGRNc.3888G>C (p.Gln1296His)
c.3573G>C (p.Gln1191His)
c.3474G>C (p.Gln1158His)
c.3015G>C (p.Gln1005His)
c.2154G>C (p.Gln718His)
n.3955G>C
n.3959G>C
1g.1048148G>TCA337852900AGRNc.3888G>T (p.Gln1296His)
c.3573G>T (p.Gln1191His)
c.3474G>T (p.Gln1158His)
c.3015G>T (p.Gln1005His)
c.2154G>T (p.Gln718His)
n.3955G>T
n.3959G>T
 gnomAD v4
1g.1048149C>ACA337852903AGRNc.3889C>A (p.Pro1297Thr)
c.3574C>A (p.Pro1192Thr)
c.3475C>A (p.Pro1159Thr)
c.3016C>A (p.Pro1006Thr)
c.2155C>A (p.Pro719Thr)
n.3956C>A
n.3960C>A
 gnomAD v4
1g.1048149C>GCA337852906AGRNc.3889C>G (p.Pro1297Ala)
c.3574C>G (p.Pro1192Ala)
c.3475C>G (p.Pro1159Ala)
c.3016C>G (p.Pro1006Ala)
c.2155C>G (p.Pro719Ala)
n.3956C>G
n.3960C>G
1g.1048149C>TCA337852909AGRNc.3889C>T (p.Pro1297Ser)
c.3574C>T (p.Pro1192Ser)
c.3475C>T (p.Pro1159Ser)
c.3016C>T (p.Pro1006Ser)
c.2155C>T (p.Pro719Ser)
n.3956C>T
n.3960C>T
 dbSNP gnomAD v4 COSMIC
1g.1048150C>ACA337852918AGRNc.3890C>A (p.Pro1297His)
c.3575C>A (p.Pro1192His)
c.3476C>A (p.Pro1159His)
c.3017C>A (p.Pro1006His)
c.2156C>A (p.Pro719His)
n.3957C>A
n.3961C>A
 gnomAD v4
1g.1048150C>GCA337852919AGRNc.3890C>G (p.Pro1297Arg)
c.3575C>G (p.Pro1192Arg)
c.3476C>G (p.Pro1159Arg)
c.3017C>G (p.Pro1006Arg)
c.2156C>G (p.Pro719Arg)
n.3957C>G
n.3961C>G
1g.1048150C>TCA337852920AGRNc.3890C>T (p.Pro1297Leu)
c.3575C>T (p.Pro1192Leu)
c.3476C>T (p.Pro1159Leu)
c.3017C>T (p.Pro1006Leu)
c.2156C>T (p.Pro719Leu)
n.3957C>T
n.3961C>T
1g.1048151C>ACA415758246AGRNc.3891C>A (p.Pro1297=)
c.3576C>A (p.Pro1192=)
c.3477C>A (p.Pro1159=)
c.3018C>A (p.Pro1006=)
c.2157C>A (p.Pro719=)
n.3958C>A
n.3962C>A
 dbSNP gnomAD v2 gnomAD v4
1g.1048151C=CA1148804122AGRNc.3891C= (p.Pro1297=)
c.3576C= (p.Pro1192=)
c.3477C= (p.Pro1159=)
c.3018C= (p.Pro1006=)
c.2157C= (p.Pro719=)
n.3958C=
n.3962C=
1g.1048151C>GCA415758249AGRNc.3891C>G (p.Pro1297=)
c.3576C>G (p.Pro1192=)
c.3477C>G (p.Pro1159=)
c.3018C>G (p.Pro1006=)
c.2157C>G (p.Pro719=)
n.3958C>G
n.3962C>G
1g.1048151C>TCA16760233AGRNc.3891C>T (p.Pro1297=)
c.3576C>T (p.Pro1192=)
c.3477C>T (p.Pro1159=)
c.3018C>T (p.Pro1006=)
c.2157C>T (p.Pro719=)
n.3958C>T
n.3962C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1048152G>ACA16760236AGRNc.3892G>A (p.Val1298Ile)
c.3577G>A (p.Val1193Ile)
c.3478G>A (p.Val1160Ile)
c.3019G>A (p.Val1007Ile)
c.2158G>A (p.Val720Ile)
n.3959G>A
n.3963G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1048152G>CCA337852921AGRNc.3892G>C (p.Val1298Leu)
c.3577G>C (p.Val1193Leu)
c.3478G>C (p.Val1160Leu)
c.3019G>C (p.Val1007Leu)
c.2158G>C (p.Val720Leu)
n.3959G>C
n.3963G>C
1g.1048152G=CA1148804129AGRNc.3892G= (p.Val1298=)
c.3577G= (p.Val1193=)
c.3478G= (p.Val1160=)
c.3019G= (p.Val1007=)
c.2158G= (p.Val720=)
n.3959G=
n.3963G=
1g.1048152G>TCA337852922AGRNc.3892G>T (p.Val1298Phe)
c.3577G>T (p.Val1193Phe)
c.3478G>T (p.Val1160Phe)
c.3019G>T (p.Val1007Phe)
c.2158G>T (p.Val720Phe)
n.3959G>T
n.3963G>T
 gnomAD v4
1g.1048153T>ACA337852924AGRNc.3893T>A (p.Val1298Asp)
c.3578T>A (p.Val1193Asp)
c.3479T>A (p.Val1160Asp)
c.3020T>A (p.Val1007Asp)
c.2159T>A (p.Val720Asp)
n.3960T>A
n.3964T>A
1g.1048153T>CCA337852926AGRNc.3893T>C (p.Val1298Ala)
c.3578T>C (p.Val1193Ala)
c.3479T>C (p.Val1160Ala)
c.3020T>C (p.Val1007Ala)
c.2159T>C (p.Val720Ala)
n.3960T>C
n.3964T>C
 gnomAD v4
1g.1048153T>GCA337852929AGRNc.3893T>G (p.Val1298Gly)
c.3578T>G (p.Val1193Gly)
c.3479T>G (p.Val1160Gly)
c.3020T>G (p.Val1007Gly)
c.2159T>G (p.Val720Gly)
n.3960T>G
n.3964T>G
1g.1048154T>ACA415758255AGRNc.3894T>A (p.Val1298=)
c.3579T>A (p.Val1193=)
c.3480T>A (p.Val1160=)
c.3021T>A (p.Val1007=)
c.2160T>A (p.Val720=)
n.3961T>A
n.3965T>A
1g.1048154T>CCA509270AGRNc.3894T>C (p.Val1298=)
c.3579T>C (p.Val1193=)
c.3480T>C (p.Val1160=)
c.3021T>C (p.Val1007=)
c.2160T>C (p.Val720=)
n.3961T>C
n.3965T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048154T>GCA509269AGRNc.3894T>G (p.Val1298=)
c.3579T>G (p.Val1193=)
c.3480T>G (p.Val1160=)
c.3021T>G (p.Val1007=)
c.2160T>G (p.Val720=)
n.3961T>G
n.3965T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.1048154T=CA1148804134AGRNc.3894T= (p.Val1298=)
c.3579T= (p.Val1193=)
c.3480T= (p.Val1160=)
c.3021T= (p.Val1007=)
c.2160T= (p.Val720=)
n.3961T=
n.3965T=
1g.1048155G>ACA16760241AGRNc.3895G>A (p.Ala1299Thr)
c.3580G>A (p.Ala1194Thr)
c.3481G>A (p.Ala1161Thr)
c.3022G>A (p.Ala1008Thr)
c.2161G>A (p.Ala721Thr)
n.3962G>A
n.3966G>A
 dbSNP gnomAD v2 gnomAD v4
1g.1048155G>CCA337852934AGRNc.3895G>C (p.Ala1299Pro)
c.3580G>C (p.Ala1194Pro)
c.3481G>C (p.Ala1161Pro)
c.3022G>C (p.Ala1008Pro)
c.2161G>C (p.Ala721Pro)
n.3962G>C
n.3966G>C
1g.1048155G=CA1148804139AGRNc.3895G= (p.Ala1299=)
c.3580G= (p.Ala1194=)
c.3481G= (p.Ala1161=)
c.3022G= (p.Ala1008=)
c.2161G= (p.Ala721=)
n.3962G=
n.3966G=
1g.1048155G>TCA337852936AGRNc.3895G>T (p.Ala1299Ser)
c.3580G>T (p.Ala1194Ser)
c.3481G>T (p.Ala1161Ser)
c.3022G>T (p.Ala1008Ser)
c.2161G>T (p.Ala721Ser)
n.3962G>T
n.3966G>T
 gnomAD v4
1g.1048156C>ACA337852938AGRNc.3896C>A (p.Ala1299Asp)
c.3581C>A (p.Ala1194Asp)
c.3482C>A (p.Ala1161Asp)
c.3023C>A (p.Ala1008Asp)
c.2162C>A (p.Ala721Asp)
n.3963C>A
n.3967C>A
 gnomAD v4
1g.1048156C>GCA337852939AGRNc.3896C>G (p.Ala1299Gly)
c.3581C>G (p.Ala1194Gly)
c.3482C>G (p.Ala1161Gly)
c.3023C>G (p.Ala1008Gly)
c.2162C>G (p.Ala721Gly)
n.3963C>G
n.3967C>G
1g.1048156C>TCA337852941AGRNc.3896C>T (p.Ala1299Val)
c.3581C>T (p.Ala1194Val)
c.3482C>T (p.Ala1161Val)
c.3023C>T (p.Ala1008Val)
c.2162C>T (p.Ala721Val)
n.3963C>T
n.3967C>T
 gnomAD v4
1g.1048157C>ACA415758261AGRNc.3897C>A (p.Ala1299=)
c.3582C>A (p.Ala1194=)
c.3483C>A (p.Ala1161=)
c.3024C>A (p.Ala1008=)
c.2163C>A (p.Ala721=)
n.3964C>A
n.3968C>A
 gnomAD v4
1g.1048157C=CA1148804149AGRNc.3897C= (p.Ala1299=)
c.3582C= (p.Ala1194=)
c.3483C= (p.Ala1161=)
c.3024C= (p.Ala1008=)
c.2163C= (p.Ala721=)
n.3964C=
n.3968C=
1g.1048157C>GCA415758260AGRNc.3897C>G (p.Ala1299=)
c.3582C>G (p.Ala1194=)
c.3483C>G (p.Ala1161=)
c.3024C>G (p.Ala1008=)
c.2163C>G (p.Ala721=)
n.3964C>G
n.3968C>G
 dbSNP
1g.1048157C>TCA415758262AGRNc.3897C>T (p.Ala1299=)
c.3582C>T (p.Ala1194=)
c.3483C>T (p.Ala1161=)
c.3024C>T (p.Ala1008=)
c.2163C>T (p.Ala721=)
n.3964C>T
n.3968C>T
 gnomAD v4
1g.1048158A>CCA337852947AGRNc.3898A>C (p.Lys1300Gln)
c.3583A>C (p.Lys1195Gln)
c.3484A>C (p.Lys1162Gln)
c.3025A>C (p.Lys1009Gln)
c.2164A>C (p.Lys722Gln)
n.3965A>C
n.3969A>C
1g.1048158A>GCA337852943AGRNc.3898A>G (p.Lys1300Glu)
c.3583A>G (p.Lys1195Glu)
c.3484A>G (p.Lys1162Glu)
c.3025A>G (p.Lys1009Glu)
c.2164A>G (p.Lys722Glu)
n.3965A>G
n.3969A>G
1g.1048158A>TCA337852945AGRNc.3898A>T (p.Lys1300Ter)
c.3583A>T (p.Lys1195Ter)
c.3484A>T (p.Lys1162Ter)
c.3025A>T (p.Lys1009Ter)
c.2164A>T (p.Lys722Ter)
n.3965A>T
n.3969A>T
1g.1048159A>CCA337852949AGRNc.3899A>C (p.Lys1300Thr)
c.3584A>C (p.Lys1195Thr)
c.3485A>C (p.Lys1162Thr)
c.3026A>C (p.Lys1009Thr)
c.2165A>C (p.Lys722Thr)
n.3966A>C
n.3970A>C
1g.1048159A>GCA337852951AGRNc.3899A>G (p.Lys1300Arg)
c.3584A>G (p.Lys1195Arg)
c.3485A>G (p.Lys1162Arg)
c.3026A>G (p.Lys1009Arg)
c.2165A>G (p.Lys722Arg)
n.3966A>G
n.3970A>G
1g.1048159A>TCA337852952AGRNc.3899A>T (p.Lys1300Met)
c.3584A>T (p.Lys1195Met)
c.3485A>T (p.Lys1162Met)
c.3026A>T (p.Lys1009Met)
c.2165A>T (p.Lys722Met)
n.3966A>T
n.3970A>T
 gnomAD v4
1g.1048160G>ACA415758266AGRNc.3900G>A (p.Lys1300=)
c.3585G>A (p.Lys1195=)
c.3486G>A (p.Lys1162=)
c.3027G>A (p.Lys1009=)
c.2166G>A (p.Lys722=)
n.3967G>A
n.3971G>A
1g.1048160G>CCA337852954AGRNc.3900G>C (p.Lys1300Asn)
c.3585G>C (p.Lys1195Asn)
c.3486G>C (p.Lys1162Asn)
c.3027G>C (p.Lys1009Asn)
c.2166G>C (p.Lys722Asn)
n.3967G>C
n.3971G>C
 gnomAD v4
1g.1048160G>TCA337852955AGRNc.3900G>T (p.Lys1300Asn)
c.3585G>T (p.Lys1195Asn)
c.3486G>T (p.Lys1162Asn)
c.3027G>T (p.Lys1009Asn)
c.2166G>T (p.Lys722Asn)
n.3967G>T
n.3971G>T
 gnomAD v4
1g.1048161A>CCA337852958AGRNc.3901A>C (p.Thr1301Pro)
c.3586A>C (p.Thr1196Pro)
c.3487A>C (p.Thr1163Pro)
c.3028A>C (p.Thr1010Pro)
c.2167A>C (p.Thr723Pro)
n.3968A>C
n.3972A>C
1g.1048161A>GCA337852961AGRNc.3901A>G (p.Thr1301Ala)
c.3586A>G (p.Thr1196Ala)
c.3487A>G (p.Thr1163Ala)
c.3028A>G (p.Thr1010Ala)
c.2167A>G (p.Thr723Ala)
n.3968A>G
n.3972A>G
1g.1048161A>TCA337852960AGRNc.3901A>T (p.Thr1301Ser)
c.3586A>T (p.Thr1196Ser)
c.3487A>T (p.Thr1163Ser)
c.3028A>T (p.Thr1010Ser)
c.2167A>T (p.Thr723Ser)
n.3968A>T
n.3972A>T
1g.1048162C>ACA337852964AGRNc.3902C>A (p.Thr1301Asn)
c.3587C>A (p.Thr1196Asn)
c.3488C>A (p.Thr1163Asn)
c.3029C>A (p.Thr1010Asn)
c.2168C>A (p.Thr723Asn)
n.3969C>A
n.3973C>A
 dbSNP gnomAD v2
1g.1048162C=CA1148804158AGRNc.3902C= (p.Thr1301=)
c.3587C= (p.Thr1196=)
c.3488C= (p.Thr1163=)
c.3029C= (p.Thr1010=)
c.2168C= (p.Thr723=)
n.3969C=
n.3973C=
1g.1048162C>GCA16760243AGRNc.3902C>G (p.Thr1301Ser)
c.3587C>G (p.Thr1196Ser)
c.3488C>G (p.Thr1163Ser)
c.3029C>G (p.Thr1010Ser)
c.2168C>G (p.Thr723Ser)
n.3969C>G
n.3973C>G
 dbSNP gnomAD v2 gnomAD v4
1g.1048162C>TCA337852966AGRNc.3902C>T (p.Thr1301Ile)
c.3587C>T (p.Thr1196Ile)
c.3488C>T (p.Thr1163Ile)
c.3029C>T (p.Thr1010Ile)
c.2168C>T (p.Thr723Ile)
n.3969C>T
n.3973C>T
 gnomAD v4
1g.1048163delCA2642492198AGRNc.3903del (p.Thr1302ArgfsTer?)
c.3588del (p.Thr1197ArgfsTer?)
c.3489del (p.Thr1164ArgfsTer?)
c.3030del (p.Thr1011ArgfsTer?)
c.2169del (p.Thr724ArgfsTer?)
n.3970del
n.3974del
 gnomAD v4
1g.1048163C>ACA415758273AGRNc.3903C>A (p.Thr1301=)
c.3588C>A (p.Thr1196=)
c.3489C>A (p.Thr1163=)
c.3030C>A (p.Thr1010=)
c.2169C>A (p.Thr723=)
n.3970C>A
n.3974C>A
 gnomAD v4
1g.1048163C=CA1148804161AGRNc.3903C= (p.Thr1301=)
c.3588C= (p.Thr1196=)
c.3489C= (p.Thr1163=)
c.3030C= (p.Thr1010=)
c.2169C= (p.Thr723=)
n.3970C=
n.3974C=
1g.1048163C>GCA415758274AGRNc.3903C>G (p.Thr1301=)
c.3588C>G (p.Thr1196=)
c.3489C>G (p.Thr1163=)
c.3030C>G (p.Thr1010=)
c.2169C>G (p.Thr723=)
n.3970C>G
n.3974C>G
 dbSNP gnomAD v3 gnomAD v4
1g.1048163C>TCA415758275AGRNc.3903C>T (p.Thr1301=)
c.3588C>T (p.Thr1196=)
c.3489C>T (p.Thr1163=)
c.3030C>T (p.Thr1010=)
c.2169C>T (p.Thr723=)
n.3970C>T
n.3974C>T
 dbSNP gnomAD v2 gnomAD v4
1g.1048164A=CA1148804168AGRNc.3904A= (p.Thr1302=)
c.3589A= (p.Thr1197=)
c.3490A= (p.Thr1164=)
c.3031A= (p.Thr1011=)
c.2170A= (p.Thr724=)
n.3971A=
n.3975A=
1g.1048164A>CCA337852969AGRNc.3904A>C (p.Thr1302Pro)
c.3589A>C (p.Thr1197Pro)
c.3490A>C (p.Thr1164Pro)
c.3031A>C (p.Thr1011Pro)
c.2170A>C (p.Thr724Pro)
n.3971A>C
n.3975A>C
1g.1048164A>GCA337852970AGRNc.3904A>G (p.Thr1302Ala)
c.3589A>G (p.Thr1197Ala)
c.3490A>G (p.Thr1164Ala)
c.3031A>G (p.Thr1011Ala)
c.2170A>G (p.Thr724Ala)
n.3971A>G
n.3975A>G
 dbSNP gnomAD v2 gnomAD v4
1g.1048164A>TCA337852971AGRNc.3904A>T (p.Thr1302Ser)
c.3589A>T (p.Thr1197Ser)
c.3490A>T (p.Thr1164Ser)
c.3031A>T (p.Thr1011Ser)
c.2170A>T (p.Thr724Ser)
n.3971A>T
n.3975A>T
1g.1048165C>ACA337852973AGRNc.3905C>A (p.Thr1302Lys)
c.3590C>A (p.Thr1197Lys)
c.3491C>A (p.Thr1164Lys)
c.3032C>A (p.Thr1011Lys)
c.2171C>A (p.Thr724Lys)
n.3972C>A
n.3976C>A
 gnomAD v4
1g.1048165C=CA1148269818AGRNc.3905C= (p.Thr1302=)
c.3590C= (p.Thr1197=)
c.3491C= (p.Thr1164=)
c.3032C= (p.Thr1011=)
c.2171C= (p.Thr724=)
n.3972C=
n.3976C=
1g.1048165C>GCA337852976AGRNc.3905C>G (p.Thr1302Arg)
c.3590C>G (p.Thr1197Arg)
c.3491C>G (p.Thr1164Arg)
c.3032C>G (p.Thr1011Arg)
c.2171C>G (p.Thr724Arg)
n.3972C>G
n.3976C>G
 dbSNP gnomAD v2 gnomAD v4
1g.1048165C>TCA509271AGRNc.3905C>T (p.Thr1302Met)
c.3590C>T (p.Thr1197Met)
c.3491C>T (p.Thr1164Met)
c.3032C>T (p.Thr1011Met)
c.2171C>T (p.Thr724Met)
n.3972C>T
n.3976C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048166G>ACA16760245AGRNc.3906G>A (p.Thr1302=)
c.3591G>A (p.Thr1197=)
c.3492G>A (p.Thr1164=)
c.3033G>A (p.Thr1011=)
c.2172G>A (p.Thr724=)
n.3973G>A
n.3977G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1048166G>CCA415758281AGRNc.3906G>C (p.Thr1302=)
c.3591G>C (p.Thr1197=)
c.3492G>C (p.Thr1164=)
c.3033G>C (p.Thr1011=)
c.2172G>C (p.Thr724=)
n.3973G>C
n.3977G>C
1g.1048166G=CA1146051981AGRNc.3906G= (p.Thr1302=)
c.3591G= (p.Thr1197=)
c.3492G= (p.Thr1164=)
c.3033G= (p.Thr1011=)
c.2172G= (p.Thr724=)
n.3973G=
n.3977G=
1g.1048166G>TCA415758279AGRNc.3906G>T (p.Thr1302=)
c.3591G>T (p.Thr1197=)
c.3492G>T (p.Thr1164=)
c.3033G>T (p.Thr1011=)
c.2172G>T (p.Thr724=)
n.3973G>T
n.3977G>T
 gnomAD v4
1g.1048167G>ACA337852980AGRNc.3907G>A (p.Ala1303Thr)
c.3592G>A (p.Ala1198Thr)
c.3493G>A (p.Ala1165Thr)
c.3034G>A (p.Ala1012Thr)
c.2173G>A (p.Ala725Thr)
n.3974G>A
n.3978G>A
 gnomAD v4
1g.1048167G>CCA337852982AGRNc.3907G>C (p.Ala1303Pro)
c.3592G>C (p.Ala1198Pro)
c.3493G>C (p.Ala1165Pro)
c.3034G>C (p.Ala1012Pro)
c.2173G>C (p.Ala725Pro)
n.3974G>C
n.3978G>C
1g.1048167G>TCA337852983AGRNc.3907G>T (p.Ala1303Ser)
c.3592G>T (p.Ala1198Ser)
c.3493G>T (p.Ala1165Ser)
c.3034G>T (p.Ala1012Ser)
c.2173G>T (p.Ala725Ser)
n.3974G>T
n.3978G>T
 gnomAD v4
1g.1048168C>ACA337852991AGRNc.3908C>A (p.Ala1303Glu)
c.3593C>A (p.Ala1198Glu)
c.3494C>A (p.Ala1165Glu)
c.3035C>A (p.Ala1012Glu)
c.2174C>A (p.Ala725Glu)
n.3975C>A
n.3979C>A
 gnomAD v4
1g.1048168C=CA1148804184AGRNc.3908C= (p.Ala1303=)
c.3593C= (p.Ala1198=)
c.3494C= (p.Ala1165=)
c.3035C= (p.Ala1012=)
c.2174C= (p.Ala725=)
n.3975C=
n.3979C=
1g.1048168C>GCA337852985AGRNc.3908C>G (p.Ala1303Gly)
c.3593C>G (p.Ala1198Gly)
c.3494C>G (p.Ala1165Gly)
c.3035C>G (p.Ala1012Gly)
c.2174C>G (p.Ala725Gly)
n.3975C>G
n.3979C>G
1g.1048168C>TCA337852988AGRNc.3908C>T (p.Ala1303Val)
c.3593C>T (p.Ala1198Val)
c.3494C>T (p.Ala1165Val)
c.3035C>T (p.Ala1012Val)
c.2174C>T (p.Ala725Val)
n.3975C>T
n.3979C>T
 dbSNP gnomAD v2 gnomAD v4
1g.1048169A>CCA415758288AGRNc.3909A>C (p.Ala1303=)
c.3594A>C (p.Ala1198=)
c.3495A>C (p.Ala1165=)
c.3036A>C (p.Ala1012=)
c.2175A>C (p.Ala725=)
n.3976A>C
n.3980A>C
 dbSNP
1g.1048169A>GCA415758289AGRNc.3909A>G (p.Ala1303=)
c.3594A>G (p.Ala1198=)
c.3495A>G (p.Ala1165=)
c.3036A>G (p.Ala1012=)
c.2175A>G (p.Ala725=)
n.3976A>G
n.3980A>G
 dbSNP
1g.1048169A>TCA415758290AGRNc.3909A>T (p.Ala1303=)
c.3594A>T (p.Ala1198=)
c.3495A>T (p.Ala1165=)
c.3036A>T (p.Ala1012=)
c.2175A>T (p.Ala725=)
n.3976A>T
n.3980A>T
1g.1048170G>ACA509272AGRNc.3910G>A (p.Ala1304Thr)
c.3595G>A (p.Ala1199Thr)
c.3496G>A (p.Ala1166Thr)
c.3037G>A (p.Ala1013Thr)
c.2176G>A (p.Ala726Thr)
n.3977G>A
n.3981G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048170G>CCA337852997AGRNc.3910G>C (p.Ala1304Pro)
c.3595G>C (p.Ala1199Pro)
c.3496G>C (p.Ala1166Pro)
c.3037G>C (p.Ala1013Pro)
c.2176G>C (p.Ala726Pro)
n.3977G>C
n.3981G>C
 gnomAD v4
1g.1048170G=CA1144070224AGRNc.3910G= (p.Ala1304=)
c.3595G= (p.Ala1199=)
c.3496G= (p.Ala1166=)
c.3037G= (p.Ala1013=)
c.2176G= (p.Ala726=)
n.3977G=
n.3981G=
1g.1048170G>TCA337852998AGRNc.3910G>T (p.Ala1304Ser)
c.3595G>T (p.Ala1199Ser)
c.3496G>T (p.Ala1166Ser)
c.3037G>T (p.Ala1013Ser)
c.2176G>T (p.Ala726Ser)
n.3977G>T
n.3981G>T
 gnomAD v4
1g.1048171C>ACA337853000AGRNc.3911C>A (p.Ala1304Asp)
c.3596C>A (p.Ala1199Asp)
c.3497C>A (p.Ala1166Asp)
c.3038C>A (p.Ala1013Asp)
c.2177C>A (p.Ala726Asp)
n.3978C>A
n.3982C>A
 gnomAD v4
1g.1048171C=CA1148804193AGRNc.3911C= (p.Ala1304=)
c.3596C= (p.Ala1199=)
c.3497C= (p.Ala1166=)
c.3038C= (p.Ala1013=)
c.2177C= (p.Ala726=)
n.3978C=
n.3982C=
1g.1048171C>GCA337853003AGRNc.3911C>G (p.Ala1304Gly)
c.3596C>G (p.Ala1199Gly)
c.3497C>G (p.Ala1166Gly)
c.3038C>G (p.Ala1013Gly)
c.2177C>G (p.Ala726Gly)
n.3978C>G
n.3982C>G
 dbSNP gnomAD v4
1g.1048171C>TCA337853006AGRNc.3911C>T (p.Ala1304Val)
c.3596C>T (p.Ala1199Val)
c.3497C>T (p.Ala1166Val)
c.3038C>T (p.Ala1013Val)
c.2177C>T (p.Ala726Val)
n.3978C>T
n.3982C>T
 dbSNP gnomAD v2 gnomAD v4
1g.1048175delCA2574258711AGRNc.3915del (p.Thr1306ProfsTer?)
c.3600del (p.Thr1201ProfsTer?)
c.3501del (p.Thr1168ProfsTer?)
c.3042del (p.Thr1015ProfsTer?)
c.2181del (p.Thr728ProfsTer?)
n.3982del
n.3986del
 gnomAD v4
1g.1048181_1048198dupCA2642492199AGRNc.3921_3938dup (p.Thr1313_Ala1314insArgArgProProThrThr)
c.3606_3623dup (p.Thr1208_Ala1209insArgArgProProThrThr)
c.3507_3524dup (p.Thr1175_Ala1176insArgArgProProThrThr)
c.3048_3065dup (p.Thr1022_Ala1023insArgArgProProThrThr)
c.2187_2204dup (p.Thr735_Ala736insArgArgProProThrThr)
n.3988_4005dup
n.3992_4009dup
 gnomAD v4
1g.1048181_1048198delCA2642492200AGRNc.3921_3938del (p.Arg1308_Thr1313del)
c.3606_3623del (p.Arg1203_Thr1208del)
c.3507_3524del (p.Arg1170_Thr1175del)
c.3048_3065del (p.Arg1017_Thr1022del)
c.2187_2204del (p.Arg730_Thr735del)
n.3988_4005del
n.3992_4009del
 gnomAD v4
1g.1048172C>ACA509273AGRNc.3912C>A (p.Ala1304=)
c.3597C>A (p.Ala1199=)
c.3498C>A (p.Ala1166=)
c.3039C>A (p.Ala1013=)
c.2178C>A (p.Ala726=)
n.3979C>A
n.3983C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1048172C=CA1148804203AGRNc.3912C= (p.Ala1304=)
c.3597C= (p.Ala1199=)
c.3498C= (p.Ala1166=)
c.3039C= (p.Ala1013=)
c.2178C= (p.Ala726=)
n.3979C=
n.3983C=
1g.1048172C>GCA415758295AGRNc.3912C>G (p.Ala1304=)
c.3597C>G (p.Ala1199=)
c.3498C>G (p.Ala1166=)
c.3039C>G (p.Ala1013=)
c.2178C>G (p.Ala726=)
n.3979C>G
n.3983C>G
1g.1048172C>TCA415758297AGRNc.3912C>T (p.Ala1304=)
c.3597C>T (p.Ala1199=)
c.3498C>T (p.Ala1166=)
c.3039C>T (p.Ala1013=)
c.2178C>T (p.Ala726=)
n.3979C>T
n.3983C>T
 dbSNP gnomAD v3 gnomAD v4
1g.1048173C>ACA16760255AGRNc.3913C>A (p.Pro1305Thr)
c.3598C>A (p.Pro1200Thr)
c.3499C>A (p.Pro1167Thr)
c.3040C>A (p.Pro1014Thr)
c.2179C>A (p.Pro727Thr)
n.3980C>A
n.3984C>A
 dbSNP gnomAD v4
1g.1048173C=CA1148804209AGRNc.3913C= (p.Pro1305=)
c.3598C= (p.Pro1200=)
c.3499C= (p.Pro1167=)
c.3040C= (p.Pro1014=)
c.2179C= (p.Pro727=)
n.3980C=
n.3984C=
1g.1048173C>GCA337853010AGRNc.3913C>G (p.Pro1305Ala)
c.3598C>G (p.Pro1200Ala)
c.3499C>G (p.Pro1167Ala)
c.3040C>G (p.Pro1014Ala)
c.2179C>G (p.Pro727Ala)
n.3980C>G
n.3984C>G
 gnomAD v4
1g.1048173C>TCA337853011AGRNc.3913C>T (p.Pro1305Ser)
c.3598C>T (p.Pro1200Ser)
c.3499C>T (p.Pro1167Ser)
c.3040C>T (p.Pro1014Ser)
c.2179C>T (p.Pro727Ser)
n.3980C>T
n.3984C>T
 gnomAD v4
1g.1048174C>ACA337853013AGRNc.3914C>A (p.Pro1305His)
c.3599C>A (p.Pro1200His)
c.3500C>A (p.Pro1167His)
c.3041C>A (p.Pro1014His)
c.2180C>A (p.Pro727His)
n.3981C>A
n.3985C>A
 gnomAD v4
1g.1048174C>GCA337853015AGRNc.3914C>G (p.Pro1305Arg)
c.3599C>G (p.Pro1200Arg)
c.3500C>G (p.Pro1167Arg)
c.3041C>G (p.Pro1014Arg)
c.2180C>G (p.Pro727Arg)
n.3981C>G
n.3985C>G
1g.1048174C>TCA337853017AGRNc.3914C>T (p.Pro1305Leu)
c.3599C>T (p.Pro1200Leu)
c.3500C>T (p.Pro1167Leu)
c.3041C>T (p.Pro1014Leu)
c.2180C>T (p.Pro727Leu)
n.3981C>T
n.3985C>T
 gnomAD v4
1g.1048175C>ACA415758301AGRNc.3915C>A (p.Pro1305=)
c.3600C>A (p.Pro1200=)
c.3501C>A (p.Pro1167=)
c.3042C>A (p.Pro1014=)
c.2181C>A (p.Pro727=)
n.3982C>A
n.3986C>A
 gnomAD v4
1g.1048175C=CA1148804214AGRNc.3915C= (p.Pro1305=)
c.3600C= (p.Pro1200=)
c.3501C= (p.Pro1167=)
c.3042C= (p.Pro1014=)
c.2181C= (p.Pro727=)
n.3982C=
n.3986C=
1g.1048175C>GCA415758302AGRNc.3915C>G (p.Pro1305=)
c.3600C>G (p.Pro1200=)
c.3501C>G (p.Pro1167=)
c.3042C>G (p.Pro1014=)
c.2181C>G (p.Pro727=)
n.3982C>G
n.3986C>G
1g.1048175C>TCA415758304AGRNc.3915C>T (p.Pro1305=)
c.3600C>T (p.Pro1200=)
c.3501C>T (p.Pro1167=)
c.3042C>T (p.Pro1014=)
c.2181C>T (p.Pro727=)
n.3982C>T
n.3986C>T
 dbSNP gnomAD v2 gnomAD v4
1g.1048176A>CCA337853026AGRNc.3916A>C (p.Thr1306Pro)
c.3601A>C (p.Thr1201Pro)
c.3502A>C (p.Thr1168Pro)
c.3043A>C (p.Thr1015Pro)
c.2182A>C (p.Thr728Pro)
n.3983A>C
n.3987A>C
 dbSNP gnomAD v4
1g.1048176A>GCA337853024AGRNc.3916A>G (p.Thr1306Ala)
c.3601A>G (p.Thr1201Ala)
c.3502A>G (p.Thr1168Ala)
c.3043A>G (p.Thr1015Ala)
c.2182A>G (p.Thr728Ala)
n.3983A>G
n.3987A>G
 ClinVar gnomAD v4
1g.1048176A>TCA337853019AGRNc.3916A>T (p.Thr1306Ser)
c.3601A>T (p.Thr1201Ser)
c.3502A>T (p.Thr1168Ser)
c.3043A>T (p.Thr1015Ser)
c.2182A>T (p.Thr728Ser)
n.3983A>T
n.3987A>T
1g.1048177C>ACA337853029AGRNc.3917C>A (p.Thr1306Asn)
c.3602C>A (p.Thr1201Asn)
c.3503C>A (p.Thr1168Asn)
c.3044C>A (p.Thr1015Asn)
c.2183C>A (p.Thr728Asn)
n.3984C>A
n.3988C>A
 gnomAD v4
1g.1048177C>GCA337853027AGRNc.3917C>G (p.Thr1306Ser)
c.3602C>G (p.Thr1201Ser)
c.3503C>G (p.Thr1168Ser)
c.3044C>G (p.Thr1015Ser)
c.2183C>G (p.Thr728Ser)
n.3984C>G
n.3988C>G
1g.1048177C>TCA337853030AGRNc.3917C>T (p.Thr1306Ile)
c.3602C>T (p.Thr1201Ile)
c.3503C>T (p.Thr1168Ile)
c.3044C>T (p.Thr1015Ile)
c.2183C>T (p.Thr728Ile)
n.3984C>T
n.3988C>T
 gnomAD v4
1g.1048178C>ACA415758309AGRNc.3918C>A (p.Thr1306=)
c.3603C>A (p.Thr1201=)
c.3504C>A (p.Thr1168=)
c.3045C>A (p.Thr1015=)
c.2184C>A (p.Thr728=)
n.3985C>A
n.3989C>A
 gnomAD v4
1g.1048178C>GCA415758310AGRNc.3918C>G (p.Thr1306=)
c.3603C>G (p.Thr1201=)
c.3504C>G (p.Thr1168=)
c.3045C>G (p.Thr1015=)
c.2184C>G (p.Thr728=)
n.3985C>G
n.3989C>G
1g.1048178C>TCA415758311AGRNc.3918C>T (p.Thr1306=)
c.3603C>T (p.Thr1201=)
c.3504C>T (p.Thr1168=)
c.3045C>T (p.Thr1015=)
c.2184C>T (p.Thr728=)
n.3985C>T
n.3989C>T
 gnomAD v4
1g.1048179A>CCA337853032AGRNc.3919A>C (p.Thr1307Pro)
c.3604A>C (p.Thr1202Pro)
c.3505A>C (p.Thr1169Pro)
c.3046A>C (p.Thr1016Pro)
c.2185A>C (p.Thr729Pro)
n.3986A>C
n.3990A>C
 dbSNP gnomAD v4
1g.1048179A>GCA337853034AGRNc.3919A>G (p.Thr1307Ala)
c.3604A>G (p.Thr1202Ala)
c.3505A>G (p.Thr1169Ala)
c.3046A>G (p.Thr1016Ala)
c.2185A>G (p.Thr729Ala)
n.3986A>G
n.3990A>G
 gnomAD v4
1g.1048179A>TCA337853033AGRNc.3919A>T (p.Thr1307Ser)
c.3604A>T (p.Thr1202Ser)
c.3505A>T (p.Thr1169Ser)
c.3046A>T (p.Thr1016Ser)
c.2185A>T (p.Thr729Ser)
n.3986A>T
n.3990A>T
1g.1048180C>ACA337853036AGRNc.3920C>A (p.Thr1307Lys)
c.3605C>A (p.Thr1202Lys)
c.3506C>A (p.Thr1169Lys)
c.3047C>A (p.Thr1016Lys)
c.2186C>A (p.Thr729Lys)
n.3987C>A
n.3991C>A
1g.1048180C>GCA337853037AGRNc.3920C>G (p.Thr1307Arg)
c.3605C>G (p.Thr1202Arg)
c.3506C>G (p.Thr1169Arg)
c.3047C>G (p.Thr1016Arg)
c.2186C>G (p.Thr729Arg)
n.3987C>G
n.3991C>G
1g.1048180C>TCA337853038AGRNc.3920C>T (p.Thr1307Ile)
c.3605C>T (p.Thr1202Ile)
c.3506C>T (p.Thr1169Ile)
c.3047C>T (p.Thr1016Ile)
c.2186C>T (p.Thr729Ile)
n.3987C>T
n.3991C>T
 gnomAD v4
1g.1048181A=CA1148804225AGRNc.3921A= (p.Thr1307=)
c.3606A= (p.Thr1202=)
c.3507A= (p.Thr1169=)
c.3048A= (p.Thr1016=)
c.2187A= (p.Thr729=)
n.3988A=
n.3992A=
1g.1048181A>CCA415758316AGRNc.3921A>C (p.Thr1307=)
c.3606A>C (p.Thr1202=)
c.3507A>C (p.Thr1169=)
c.3048A>C (p.Thr1016=)
c.2187A>C (p.Thr729=)
n.3988A>C
n.3992A>C
 dbSNP
1g.1048181A>GCA16760261AGRNc.3921A>G (p.Thr1307=)
c.3606A>G (p.Thr1202=)
c.3507A>G (p.Thr1169=)
c.3048A>G (p.Thr1016=)
c.2187A>G (p.Thr729=)
n.3988A>G
n.3992A>G
 dbSNP
1g.1048181A>TCA415758318AGRNc.3921A>T (p.Thr1307=)
c.3606A>T (p.Thr1202=)
c.3507A>T (p.Thr1169=)
c.3048A>T (p.Thr1016=)
c.2187A>T (p.Thr729=)
n.3988A>T
n.3992A>T
1g.1048193_1048231delCA2642492201AGRNc.3933_3971del (p.Thr1312_Pro1324del)
c.3618_3656del (p.Thr1207_Pro1219del)
c.3519_3557del (p.Thr1174_Pro1186del)
c.3060_3098del (p.Thr1021_Pro1033del)
c.2199_2237del (p.Thr734_Pro746del)
n.4000_4038del
n.4004_4042del
 gnomAD v4
1g.1048182C>ACA337853039AGRNc.3922C>A (p.Arg1308Ser)
c.3607C>A (p.Arg1203Ser)
c.3508C>A (p.Arg1170Ser)
c.3049C>A (p.Arg1017Ser)
c.2188C>A (p.Arg730Ser)
n.3989C>A
n.3993C>A
 gnomAD v4
1g.1048182C=CA1143692747AGRNc.3922C= (p.Arg1308=)
c.3607C= (p.Arg1203=)
c.3508C= (p.Arg1170=)
c.3049C= (p.Arg1017=)
c.2188C= (p.Arg730=)
n.3989C=
n.3993C=
1g.1048182C>GCA337853040AGRNc.3922C>G (p.Arg1308Gly)
c.3607C>G (p.Arg1203Gly)
c.3508C>G (p.Arg1170Gly)
c.3049C>G (p.Arg1017Gly)
c.2188C>G (p.Arg730Gly)
n.3989C>G
n.3993C>G
 ClinVar COSMIC
1g.1048182C>TCA509274AGRNc.3922C>T (p.Arg1308Cys)
c.3607C>T (p.Arg1203Cys)
c.3508C>T (p.Arg1170Cys)
c.3049C>T (p.Arg1017Cys)
c.2188C>T (p.Arg730Cys)
n.3989C>T
n.3993C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.1048183G>ACA509275AGRNc.3923G>A (p.Arg1308His)
c.3608G>A (p.Arg1203His)
c.3509G>A (p.Arg1170His)
c.3050G>A (p.Arg1017His)
c.2189G>A (p.Arg730His)
n.3990G>A
n.3994G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048183G>CCA337853042AGRNc.3923G>C (p.Arg1308Pro)
c.3608G>C (p.Arg1203Pro)
c.3509G>C (p.Arg1170Pro)
c.3050G>C (p.Arg1017Pro)
c.2189G>C (p.Arg730Pro)
n.3990G>C
n.3994G>C
1g.1048183G=CA1148804326AGRNc.3923G= (p.Arg1308=)
c.3608G= (p.Arg1203=)
c.3509G= (p.Arg1170=)
c.3050G= (p.Arg1017=)
c.2189G= (p.Arg730=)
n.3990G=
n.3994G=
1g.1048183G>TCA509276AGRNc.3923G>T (p.Arg1308Leu)
c.3608G>T (p.Arg1203Leu)
c.3509G>T (p.Arg1170Leu)
c.3050G>T (p.Arg1017Leu)
c.2189G>T (p.Arg730Leu)
n.3990G>T
n.3994G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048184T>ACA415758322AGRNc.3924T>A (p.Arg1308=)
c.3609T>A (p.Arg1203=)
c.3510T>A (p.Arg1170=)
c.3051T>A (p.Arg1017=)
c.2190T>A (p.Arg730=)
n.3991T>A
n.3995T>A
 dbSNP
1g.1048184T>CCA415758323AGRNc.3924T>C (p.Arg1308=)
c.3609T>C (p.Arg1203=)
c.3510T>C (p.Arg1170=)
c.3051T>C (p.Arg1017=)
c.2190T>C (p.Arg730=)
n.3991T>C
n.3995T>C
 gnomAD v4
1g.1048184T>GCA509277AGRNc.3924T>G (p.Arg1308=)
c.3609T>G (p.Arg1203=)
c.3510T>G (p.Arg1170=)
c.3051T>G (p.Arg1017=)
c.2190T>G (p.Arg730=)
n.3991T>G
n.3995T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1048184T=CA1148423735AGRNc.3924T= (p.Arg1308=)
c.3609T= (p.Arg1203=)
c.3510T= (p.Arg1170=)
c.3051T= (p.Arg1017=)
c.2190T= (p.Arg730=)
n.3991T=
n.3995T=
1g.1048185C>ACA415758327AGRNc.3925C>A (p.Arg1309=)
c.3610C>A (p.Arg1204=)
c.3511C>A (p.Arg1171=)
c.3052C>A (p.Arg1018=)
c.2191C>A (p.Arg731=)
n.3992C>A
n.3996C>A
 gnomAD v4
1g.1048185C=CA1147082798AGRNc.3925C= (p.Arg1309=)
c.3610C= (p.Arg1204=)
c.3511C= (p.Arg1171=)
c.3052C= (p.Arg1018=)
c.2191C= (p.Arg731=)
n.3992C=
n.3996C=
1g.1048185C>GCA337853043AGRNc.3925C>G (p.Arg1309Gly)
c.3610C>G (p.Arg1204Gly)
c.3511C>G (p.Arg1171Gly)
c.3052C>G (p.Arg1018Gly)
c.2191C>G (p.Arg731Gly)
n.3992C>G
n.3996C>G
1g.1048185C>TCA509278AGRNc.3925C>T (p.Arg1309Trp)
c.3610C>T (p.Arg1204Trp)
c.3511C>T (p.Arg1171Trp)
c.3052C>T (p.Arg1018Trp)
c.2191C>T (p.Arg731Trp)
n.3992C>T
n.3996C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048195_1048240delCA2642492202AGRNc.3935_3980del (p.Thr1312SerfsTer?)
c.3620_3665del (p.Thr1207SerfsTer?)
c.3521_3566del (p.Thr1174SerfsTer?)
c.3062_3107del (p.Thr1021SerfsTer?)
c.2201_2246del (p.Thr734SerfsTer?)
n.4002_4047del
n.4006_4051del
 gnomAD v4
1g.1048186G>ACA509279AGRNc.3926G>A (p.Arg1309Gln)
c.3611G>A (p.Arg1204Gln)
c.3512G>A (p.Arg1171Gln)
c.3053G>A (p.Arg1018Gln)
c.2192G>A (p.Arg731Gln)
n.3993G>A
n.3997G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1048186G>CCA337853046AGRNc.3926G>C (p.Arg1309Pro)
c.3611G>C (p.Arg1204Pro)
c.3512G>C (p.Arg1171Pro)
c.3053G>C (p.Arg1018Pro)
c.2192G>C (p.Arg731Pro)
n.3993G>C
n.3997G>C
1g.1048186G=CA1143367294AGRNc.3926G= (p.Arg1309=)
c.3611G= (p.Arg1204=)
c.3512G= (p.Arg1171=)
c.3053G= (p.Arg1018=)
c.2192G= (p.Arg731=)
n.3993G=
n.3997G=
1g.1048186G>TCA337853045AGRNc.3926G>T (p.Arg1309Leu)
c.3611G>T (p.Arg1204Leu)
c.3512G>T (p.Arg1171Leu)
c.3053G>T (p.Arg1018Leu)
c.2192G>T (p.Arg731Leu)
n.3993G>T
n.3997G>T
 gnomAD v4
1g.1048187G>ACA415758336AGRNc.3927G>A (p.Arg1309=)
c.3612G>A (p.Arg1204=)
c.3513G>A (p.Arg1171=)
c.3054G>A (p.Arg1018=)
c.2193G>A (p.Arg731=)
n.3994G>A
n.3998G>A
 gnomAD v4
1g.1048187G>CCA415758338AGRNc.3927G>C (p.Arg1309=)
c.3612G>C (p.Arg1204=)
c.3513G>C (p.Arg1171=)
c.3054G>C (p.Arg1018=)
c.2193G>C (p.Arg731=)
n.3994G>C
n.3998G>C
 gnomAD v4
1g.1048187G>TCA415758339AGRNc.3927G>T (p.Arg1309=)
c.3612G>T (p.Arg1204=)
c.3513G>T (p.Arg1171=)
c.3054G>T (p.Arg1018=)
c.2193G>T (p.Arg731=)
n.3994G>T
n.3998G>T
 gnomAD v4
1g.1048187_1048188delinsGCCA1148804346AGRNc.3927_3928delinsGC (p.Arg1309=)
c.3612_3613delinsGC (p.Arg1204=)
c.3513_3514delinsGC (p.Arg1171=)
c.3054_3055delinsGC (p.Arg1018=)
c.2193_2194delinsGC (p.Arg731=)
n.3994_3995delinsGC
n.3998_3999delinsGC
1g.1048188C>ACA337853047AGRNc.3928C>A (p.Pro1310Thr)
c.3613C>A (p.Pro1205Thr)
c.3514C>A (p.Pro1172Thr)
c.3055C>A (p.Pro1019Thr)
c.2194C>A (p.Pro732Thr)
n.3995C>A
n.3999C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1048188C=CA1148804356AGRNc.3928C= (p.Pro1310=)
c.3613C= (p.Pro1205=)
c.3514C= (p.Pro1172=)
c.3055C= (p.Pro1019=)
c.2194C= (p.Pro732=)
n.3995C=
n.3999C=
1g.1048188C>GCA337853049AGRNc.3928C>G (p.Pro1310Ala)
c.3613C>G (p.Pro1205Ala)
c.3514C>G (p.Pro1172Ala)
c.3055C>G (p.Pro1019Ala)
c.2194C>G (p.Pro732Ala)
n.3995C>G
n.3999C>G
 dbSNP
1g.1048188C>TCA509280AGRNc.3928C>T (p.Pro1310Ser)
c.3613C>T (p.Pro1205Ser)
c.3514C>T (p.Pro1172Ser)
c.3055C>T (p.Pro1019Ser)
c.2194C>T (p.Pro732Ser)
n.3995C>T
n.3999C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1048193dupCA997655002AGRNc.3933dup (p.Thr1312HisfsTer23)
c.3618dup (p.Thr1207HisfsTer23)
c.3519dup (p.Thr1174HisfsTer23)
c.3060dup (p.Thr1021HisfsTer23)
c.2199dup (p.Thr734HisfsTer23)
n.4000dup
n.4004dup
 dbSNP gnomAD v3 gnomAD v4
1g.1048193delCA520659075AGRNc.3933del (p.Thr1312ProfsTer?)
c.3618del (p.Thr1207ProfsTer?)
c.3519del (p.Thr1174ProfsTer?)
c.3060del (p.Thr1021ProfsTer?)
c.2199del (p.Thr734ProfsTer?)
n.4000del
n.4004del
 dbSNP gnomAD v2 gnomAD v4
1g.1048189C>ACA337853051AGRNc.3929C>A (p.Pro1310His)
c.3614C>A (p.Pro1205His)
c.3515C>A (p.Pro1172His)
c.3056C>A (p.Pro1019His)
c.2195C>A (p.Pro732His)
n.3996C>A
n.4000C>A
 gnomAD v4
1g.1048189C=CA1148804365AGRNc.3929C= (p.Pro1310=)
c.3614C= (p.Pro1205=)
c.3515C= (p.Pro1172=)
c.3056C= (p.Pro1019=)
c.2195C= (p.Pro732=)
n.3996C=
n.4000C=
1g.1048189C>GCA337853052AGRNc.3929C>G (p.Pro1310Arg)
c.3614C>G (p.Pro1205Arg)
c.3515C>G (p.Pro1172Arg)
c.3056C>G (p.Pro1019Arg)
c.2195C>G (p.Pro732Arg)
n.3996C>G
n.4000C>G
1g.1048189C>TCA16760286AGRNc.3929C>T (p.Pro1310Leu)
c.3614C>T (p.Pro1205Leu)
c.3515C>T (p.Pro1172Leu)
c.3056C>T (p.Pro1019Leu)
c.2195C>T (p.Pro732Leu)
n.3996C>T
n.4000C>T
 dbSNP gnomAD v2 gnomAD v4
1g.1048190C>ACA415758345AGRNc.3930C>A (p.Pro1310=)
c.3615C>A (p.Pro1205=)
c.3516C>A (p.Pro1172=)
c.3057C>A (p.Pro1019=)
c.2196C>A (p.Pro732=)
n.3997C>A
n.4001C>A
 gnomAD v4
1g.1048190C=CA1148804374AGRNc.3930C= (p.Pro1310=)
c.3615C= (p.Pro1205=)
c.3516C= (p.Pro1172=)
c.3057C= (p.Pro1019=)
c.2196C= (p.Pro732=)
n.3997C=
n.4001C=
1g.1048190C>GCA415758346AGRNc.3930C>G (p.Pro1310=)
c.3615C>G (p.Pro1205=)
c.3516C>G (p.Pro1172=)
c.3057C>G (p.Pro1019=)
c.2196C>G (p.Pro732=)
n.3997C>G
n.4001C>G
1g.1048190C>TCA415758347AGRNc.3930C>T (p.Pro1310=)
c.3615C>T (p.Pro1205=)
c.3516C>T (p.Pro1172=)
c.3057C>T (p.Pro1019=)
c.2196C>T (p.Pro732=)
n.3997C>T
n.4001C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1048191C>ACA337853055AGRNc.3931C>A (p.Pro1311Thr)
c.3616C>A (p.Pro1206Thr)
c.3517C>A (p.Pro1173Thr)
c.3058C>A (p.Pro1020Thr)
c.2197C>A (p.Pro733Thr)
n.3998C>A
n.4002C>A
 gnomAD v4
1g.1048191C=CA1148804381AGRNc.3931C= (p.Pro1311=)
c.3616C= (p.Pro1206=)
c.3517C= (p.Pro1173=)
c.3058C= (p.Pro1020=)
c.2197C= (p.Pro733=)
n.3998C=
n.4002C=
1g.1048191C>GCA337853061AGRNc.3931C>G (p.Pro1311Ala)
c.3616C>G (p.Pro1206Ala)
c.3517C>G (p.Pro1173Ala)
c.3058C>G (p.Pro1020Ala)
c.2197C>G (p.Pro733Ala)
n.3998C>G
n.4002C>G
 dbSNP gnomAD v2 gnomAD v4
1g.1048191C>TCA337853071AGRNc.3931C>T (p.Pro1311Ser)
c.3616C>T (p.Pro1206Ser)
c.3517C>T (p.Pro1173Ser)
c.3058C>T (p.Pro1020Ser)
c.2197C>T (p.Pro733Ser)
n.3998C>T
n.4002C>T
 gnomAD v4
1g.1048192C>ACA337853075AGRNc.3932C>A (p.Pro1311His)
c.3617C>A (p.Pro1206His)
c.3518C>A (p.Pro1173His)
c.3059C>A (p.Pro1020His)
c.2198C>A (p.Pro733His)
n.3999C>A
n.4003C>A
 gnomAD v4
1g.1048192C=CA1148804391AGRNc.3932C= (p.Pro1311=)
c.3617C= (p.Pro1206=)
c.3518C= (p.Pro1173=)
c.3059C= (p.Pro1020=)
c.2198C= (p.Pro733=)
n.3999C=
n.4003C=
1g.1048192C>GCA337853077AGRNc.3932C>G (p.Pro1311Arg)
c.3617C>G (p.Pro1206Arg)
c.3518C>G (p.Pro1173Arg)
c.3059C>G (p.Pro1020Arg)
c.2198C>G (p.Pro733Arg)
n.3999C>G
n.4003C>G
 dbSNP
1g.1048192C>TCA337853079AGRNc.3932C>T (p.Pro1311Leu)
c.3617C>T (p.Pro1206Leu)
c.3518C>T (p.Pro1173Leu)
c.3059C>T (p.Pro1020Leu)
c.2198C>T (p.Pro733Leu)
n.3999C>T
n.4003C>T
 gnomAD v4

Number of alleles fetched