Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.47121296C>ACA352522839SETD2c.3208G>T (p.Glu1070Ter)
c.3241G>T (p.Glu1081Ter)
c.1220G>T
c.1281G>T
c.356G>T
c.1504G>T (p.Glu502Ter)
c.72-23215G>T (n.72-23215G>T)
c.3340G>T (p.Glu1114Ter)
c.2955G>T
c.2492G>T
c.2240G>T
c.3418G>T (p.Glu1140Ter)
c.3364G>T (p.Glu1122Ter)
n.3433G>T
n.3521G>T
n.3393G>T
n.3269G>T
n.3529G>T
 dbSNP
3g.47121296C=CA1362408120SETD2c.3208G= (p.Glu1070=)
c.3241G= (p.Glu1081=)
c.1220G=
c.1281G=
c.356G=
c.1504G= (p.Glu502=)
c.72-23215G= (n.72-23215G=)
c.3340G= (p.Glu1114=)
c.2955G=
c.2492G=
c.2240G=
c.3418G= (p.Glu1140=)
c.3364G= (p.Glu1122=)
n.3433G=
n.3521G=
n.3393G=
n.3269G=
n.3529G=
3g.47121296C>GCA352522841SETD2c.3208G>C (p.Glu1070Gln)
c.3241G>C (p.Glu1081Gln)
c.1220G>C
c.1281G>C
c.356G>C
c.1504G>C (p.Glu502Gln)
c.72-23215G>C (n.72-23215G>C)
c.3340G>C (p.Glu1114Gln)
c.2955G>C
c.2492G>C
c.2240G>C
c.3418G>C (p.Glu1140Gln)
c.3364G>C (p.Glu1122Gln)
n.3433G>C
n.3521G>C
n.3393G>C
n.3269G>C
n.3529G>C
 dbSNP
3g.47121296C>TCA352522842SETD2c.3208G>A (p.Glu1070Lys)
c.3241G>A (p.Glu1081Lys)
c.1220G>A
c.1281G>A
c.356G>A
c.1504G>A (p.Glu502Lys)
c.72-23215G>A (n.72-23215G>A)
c.3340G>A (p.Glu1114Lys)
c.2955G>A
c.2492G>A
c.2240G>A
c.3418G>A (p.Glu1140Lys)
c.3364G>A (p.Glu1122Lys)
n.3433G>A
n.3521G>A
n.3393G>A
n.3269G>A
n.3529G>A
 dbSNP gnomAD v3 gnomAD v4
3g.47121298_47121301delCA2573335126SETD2c.3205_3208del (p.Tyr1069ArgfsTer7)
c.3238_3241del (p.Tyr1080ArgfsTer7)
c.1217_1220del
c.1278_1281del
c.353_356del
c.1501_1504del (p.Tyr501ArgfsTer7)
c.72-23218_72-23215del (n.72-23218_72-23215del)
c.3337_3340del (p.Tyr1113ArgfsTer7)
c.2952_2955del
c.2489_2492del
c.2237_2240del
c.3415_3418del (p.Tyr1139ArgfsTer7)
c.3361_3364del (p.Tyr1121ArgfsTer7)
n.3430_3433del
n.3518_3521del
n.3390_3393del
n.3266_3269del
n.3526_3529del
3g.47121297A>CCA352522844SETD2c.3207T>G (p.Tyr1069Ter)
c.3240T>G (p.Tyr1080Ter)
c.1219T>G
c.1280T>G
c.355T>G
c.1503T>G (p.Tyr501Ter)
c.72-23216T>G (n.72-23216T>G)
c.3339T>G (p.Tyr1113Ter)
c.2954T>G
c.2491T>G
c.2239T>G
c.3417T>G (p.Tyr1139Ter)
c.3363T>G (p.Tyr1121Ter)
n.3432T>G
n.3520T>G
n.3392T>G
n.3268T>G
n.3528T>G
 dbSNP COSMIC COSMIC
3g.47121297A>GCA433600689SETD2c.3207T>C (p.Tyr1069=)
c.3240T>C (p.Tyr1080=)
c.1219T>C
c.1280T>C
c.355T>C
c.1503T>C (p.Tyr501=)
c.72-23216T>C (n.72-23216T>C)
c.3339T>C (p.Tyr1113=)
c.2954T>C
c.2491T>C
c.2239T>C
c.3417T>C (p.Tyr1139=)
c.3363T>C (p.Tyr1121=)
n.3432T>C
n.3520T>C
n.3392T>C
n.3268T>C
n.3528T>C
 dbSNP
3g.47121297A>TCA352522846SETD2c.3207T>A (p.Tyr1069Ter)
c.3240T>A (p.Tyr1080Ter)
c.1219T>A
c.1280T>A
c.355T>A
c.1503T>A (p.Tyr501Ter)
c.72-23216T>A (n.72-23216T>A)
c.3339T>A (p.Tyr1113Ter)
c.2954T>A
c.2491T>A
c.2239T>A
c.3417T>A (p.Tyr1139Ter)
c.3363T>A (p.Tyr1121Ter)
n.3432T>A
n.3520T>A
n.3392T>A
n.3268T>A
n.3528T>A
 dbSNP
3g.47121298T>ACA352522848SETD2c.3206A>T (p.Tyr1069Phe)
c.3239A>T (p.Tyr1080Phe)
c.1218A>T
c.1279A>T
c.354A>T
c.1502A>T (p.Tyr501Phe)
c.72-23217A>T (n.72-23217A>T)
c.3338A>T (p.Tyr1113Phe)
c.2953A>T
c.2490A>T
c.2238A>T
c.3416A>T (p.Tyr1139Phe)
c.3362A>T (p.Tyr1121Phe)
n.3431A>T
n.3519A>T
n.3391A>T
n.3267A>T
n.3527A>T
 dbSNP
3g.47121298T>CCA352522849SETD2c.3206A>G (p.Tyr1069Cys)
c.3239A>G (p.Tyr1080Cys)
c.1218A>G
c.1279A>G
c.354A>G
c.1502A>G (p.Tyr501Cys)
c.72-23217A>G (n.72-23217A>G)
c.3338A>G (p.Tyr1113Cys)
c.2953A>G
c.2490A>G
c.2238A>G
c.3416A>G (p.Tyr1139Cys)
c.3362A>G (p.Tyr1121Cys)
n.3431A>G
n.3519A>G
n.3391A>G
n.3267A>G
n.3527A>G
 dbSNP
3g.47121298T>GCA352522851SETD2c.3206A>C (p.Tyr1069Ser)
c.3239A>C (p.Tyr1080Ser)
c.1218A>C
c.1279A>C
c.354A>C
c.1502A>C (p.Tyr501Ser)
c.72-23217A>C (n.72-23217A>C)
c.3338A>C (p.Tyr1113Ser)
c.2953A>C
c.2490A>C
c.2238A>C
c.3416A>C (p.Tyr1139Ser)
c.3362A>C (p.Tyr1121Ser)
n.3431A>C
n.3519A>C
n.3391A>C
n.3267A>C
n.3527A>C
 dbSNP
3g.47121298T=CA1362408124SETD2c.3206A= (p.Tyr1069=)
c.3239A= (p.Tyr1080=)
c.1218A=
c.1279A=
c.354A=
c.1502A= (p.Tyr501=)
c.72-23217A= (n.72-23217A=)
c.3338A= (p.Tyr1113=)
c.2953A=
c.2490A=
c.2238A=
c.3416A= (p.Tyr1139=)
c.3362A= (p.Tyr1121=)
n.3431A=
n.3519A=
n.3391A=
n.3267A=
n.3527A=
3g.47121299A>CCA352522853SETD2c.3205T>G (p.Tyr1069Asp)
c.3238T>G (p.Tyr1080Asp)
c.1217T>G
c.1278T>G
c.353T>G
c.1501T>G (p.Tyr501Asp)
c.72-23218T>G (n.72-23218T>G)
c.3337T>G (p.Tyr1113Asp)
c.2952T>G
c.2489T>G
c.2237T>G
c.3415T>G (p.Tyr1139Asp)
c.3361T>G (p.Tyr1121Asp)
n.3430T>G
n.3518T>G
n.3390T>G
n.3266T>G
n.3526T>G
 dbSNP
3g.47121299A>GCA352522855SETD2c.3205T>C (p.Tyr1069His)
c.3238T>C (p.Tyr1080His)
c.1217T>C
c.1278T>C
c.353T>C
c.1501T>C (p.Tyr501His)
c.72-23218T>C (n.72-23218T>C)
c.3337T>C (p.Tyr1113His)
c.2952T>C
c.2489T>C
c.2237T>C
c.3415T>C (p.Tyr1139His)
c.3361T>C (p.Tyr1121His)
n.3430T>C
n.3518T>C
n.3390T>C
n.3266T>C
n.3526T>C
 dbSNP
3g.47121299A>TCA352522856SETD2c.3205T>A (p.Tyr1069Asn)
c.3238T>A (p.Tyr1080Asn)
c.1217T>A
c.1278T>A
c.353T>A
c.1501T>A (p.Tyr501Asn)
c.72-23218T>A (n.72-23218T>A)
c.3337T>A (p.Tyr1113Asn)
c.2952T>A
c.2489T>A
c.2237T>A
c.3415T>A (p.Tyr1139Asn)
c.3361T>A (p.Tyr1121Asn)
n.3430T>A
n.3518T>A
n.3390T>A
n.3266T>A
n.3526T>A
 dbSNP
3g.47121300C>ACA352522857SETD2c.3204G>T (p.Leu1068Phe)
c.3237G>T (p.Leu1079Phe)
c.1216G>T
c.1277G>T
c.352G>T
c.1500G>T (p.Leu500Phe)
c.72-23219G>T (n.72-23219G>T)
c.3336G>T (p.Leu1112Phe)
c.2951G>T
c.2488G>T
c.2236G>T
c.3414G>T (p.Leu1138Phe)
c.3360G>T (p.Leu1120Phe)
n.3429G>T
n.3517G>T
n.3389G>T
n.3265G>T
n.3525G>T
 dbSNP
3g.47121300C=CA1362408127SETD2c.3204G= (p.Leu1068=)
c.3237G= (p.Leu1079=)
c.1216G=
c.1277G=
c.352G=
c.1500G= (p.Leu500=)
c.72-23219G= (n.72-23219G=)
c.3336G= (p.Leu1112=)
c.2951G=
c.2488G=
c.2236G=
c.3414G= (p.Leu1138=)
c.3360G= (p.Leu1120=)
n.3429G=
n.3517G=
n.3389G=
n.3265G=
n.3525G=
3g.47121300C>GCA352522859SETD2c.3204G>C (p.Leu1068Phe)
c.3237G>C (p.Leu1079Phe)
c.1216G>C
c.1277G>C
c.352G>C
c.1500G>C (p.Leu500Phe)
c.72-23219G>C (n.72-23219G>C)
c.3336G>C (p.Leu1112Phe)
c.2951G>C
c.2488G>C
c.2236G>C
c.3414G>C (p.Leu1138Phe)
c.3360G>C (p.Leu1120Phe)
n.3429G>C
n.3517G>C
n.3389G>C
n.3265G>C
n.3525G>C
3g.47121300C>TCA433600715SETD2c.3204G>A (p.Leu1068=)
c.3237G>A (p.Leu1079=)
c.1216G>A
c.1277G>A
c.352G>A
c.1500G>A (p.Leu500=)
c.72-23219G>A (n.72-23219G>A)
c.3336G>A (p.Leu1112=)
c.2951G>A
c.2488G>A
c.2236G>A
c.3414G>A (p.Leu1138=)
c.3360G>A (p.Leu1120=)
n.3429G>A
n.3517G>A
n.3389G>A
n.3265G>A
n.3525G>A
 dbSNP gnomAD v4
3g.47121301A>CCA352522861SETD2c.3203T>G (p.Leu1068Trp)
c.3236T>G (p.Leu1079Trp)
c.1215T>G
c.1276T>G
c.351T>G
c.1499T>G (p.Leu500Trp)
c.72-23220T>G (n.72-23220T>G)
c.3335T>G (p.Leu1112Trp)
c.2950T>G
c.2487T>G
c.2235T>G
c.3413T>G (p.Leu1138Trp)
c.3359T>G (p.Leu1120Trp)
n.3428T>G
n.3516T>G
n.3388T>G
n.3264T>G
n.3524T>G
3g.47121301A>GCA352522862SETD2c.3203T>C (p.Leu1068Ser)
c.3236T>C (p.Leu1079Ser)
c.1215T>C
c.1276T>C
c.351T>C
c.1499T>C (p.Leu500Ser)
c.72-23220T>C (n.72-23220T>C)
c.3335T>C (p.Leu1112Ser)
c.2950T>C
c.2487T>C
c.2235T>C
c.3413T>C (p.Leu1138Ser)
c.3359T>C (p.Leu1120Ser)
n.3428T>C
n.3516T>C
n.3388T>C
n.3264T>C
n.3524T>C
3g.47121301A>TCA352522864SETD2c.3203T>A (p.Leu1068Ter)
c.3236T>A (p.Leu1079Ter)
c.1215T>A
c.1276T>A
c.351T>A
c.1499T>A (p.Leu500Ter)
c.72-23220T>A (n.72-23220T>A)
c.3335T>A (p.Leu1112Ter)
c.2950T>A
c.2487T>A
c.2235T>A
c.3413T>A (p.Leu1138Ter)
c.3359T>A (p.Leu1120Ter)
n.3428T>A
n.3516T>A
n.3388T>A
n.3264T>A
n.3524T>A
 dbSNP
3g.47121302A=CA1362408131SETD2c.3202T= (p.Leu1068=)
c.3235T= (p.Leu1079=)
c.1214T=
c.1275T=
c.350T=
c.1498T= (p.Leu500=)
c.72-23221T= (n.72-23221T=)
c.3334T= (p.Leu1112=)
c.2949T=
c.2486T=
c.2234T=
c.3412T= (p.Leu1138=)
c.3358T= (p.Leu1120=)
n.3427T=
n.3515T=
n.3387T=
n.3263T=
n.3523T=
3g.47121302A>CCA352522866SETD2c.3202T>G (p.Leu1068Val)
c.3235T>G (p.Leu1079Val)
c.1214T>G
c.1275T>G
c.350T>G
c.1498T>G (p.Leu500Val)
c.72-23221T>G (n.72-23221T>G)
c.3334T>G (p.Leu1112Val)
c.2949T>G
c.2486T>G
c.2234T>G
c.3412T>G (p.Leu1138Val)
c.3358T>G (p.Leu1120Val)
n.3427T>G
n.3515T>G
n.3387T>G
n.3263T>G
n.3523T>G
 dbSNP gnomAD v4
3g.47121302A>GCA433600720SETD2c.3202T>C (p.Leu1068=)
c.3235T>C (p.Leu1079=)
c.1214T>C
c.1275T>C
c.350T>C
c.1498T>C (p.Leu500=)
c.72-23221T>C (n.72-23221T>C)
c.3334T>C (p.Leu1112=)
c.2949T>C
c.2486T>C
c.2234T>C
c.3412T>C (p.Leu1138=)
c.3358T>C (p.Leu1120=)
n.3427T>C
n.3515T>C
n.3387T>C
n.3263T>C
n.3523T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47121302A>TCA352522868SETD2c.3202T>A (p.Leu1068Met)
c.3235T>A (p.Leu1079Met)
c.1214T>A
c.1275T>A
c.350T>A
c.1498T>A (p.Leu500Met)
c.72-23221T>A (n.72-23221T>A)
c.3334T>A (p.Leu1112Met)
c.2949T>A
c.2486T>A
c.2234T>A
c.3412T>A (p.Leu1138Met)
c.3358T>A (p.Leu1120Met)
n.3427T>A
n.3515T>A
n.3387T>A
n.3263T>A
n.3523T>A
 dbSNP
3g.47121303A=CA1362408134SETD2c.3201T= (p.His1067=)
c.3234T= (p.His1078=)
c.1213T=
c.1274T=
c.349T=
c.1497T= (p.His499=)
c.72-23222T= (n.72-23222T=)
c.3333T= (p.His1111=)
c.2948T=
c.2485T=
c.2233T=
c.3411T= (p.His1137=)
c.3357T= (p.His1119=)
n.3426T=
n.3514T=
n.3386T=
n.3262T=
n.3522T=
3g.47121303A>CCA352522869SETD2c.3201T>G (p.His1067Gln)
c.3234T>G (p.His1078Gln)
c.1213T>G
c.1274T>G
c.349T>G
c.1497T>G (p.His499Gln)
c.72-23222T>G (n.72-23222T>G)
c.3333T>G (p.His1111Gln)
c.2948T>G
c.2485T>G
c.2233T>G
c.3411T>G (p.His1137Gln)
c.3357T>G (p.His1119Gln)
n.3426T>G
n.3514T>G
n.3386T>G
n.3262T>G
n.3522T>G
 dbSNP
3g.47121303A>GCA433600731SETD2c.3201T>C (p.His1067=)
c.3234T>C (p.His1078=)
c.1213T>C
c.1274T>C
c.349T>C
c.1497T>C (p.His499=)
c.72-23222T>C (n.72-23222T>C)
c.3333T>C (p.His1111=)
c.2948T>C
c.2485T>C
c.2233T>C
c.3411T>C (p.His1137=)
c.3357T>C (p.His1119=)
n.3426T>C
n.3514T>C
n.3386T>C
n.3262T>C
n.3522T>C
3g.47121303A>TCA352522871SETD2c.3201T>A (p.His1067Gln)
c.3234T>A (p.His1078Gln)
c.1213T>A
c.1274T>A
c.349T>A
c.1497T>A (p.His499Gln)
c.72-23222T>A (n.72-23222T>A)
c.3333T>A (p.His1111Gln)
c.2948T>A
c.2485T>A
c.2233T>A
c.3411T>A (p.His1137Gln)
c.3357T>A (p.His1119Gln)
n.3426T>A
n.3514T>A
n.3386T>A
n.3262T>A
n.3522T>A
 dbSNP
3g.47121304T>ACA352522873SETD2c.3200A>T (p.His1067Leu)
c.3233A>T (p.His1078Leu)
c.1212A>T
c.1273A>T
c.348A>T
c.1496A>T (p.His499Leu)
c.72-23223A>T (n.72-23223A>T)
c.3332A>T (p.His1111Leu)
c.2947A>T
c.2484A>T
c.2232A>T
c.3410A>T (p.His1137Leu)
c.3356A>T (p.His1119Leu)
n.3425A>T
n.3513A>T
n.3385A>T
n.3261A>T
n.3521A>T
 dbSNP
3g.47121304T>CCA352522875SETD2c.3200A>G (p.His1067Arg)
c.3233A>G (p.His1078Arg)
c.1212A>G
c.1273A>G
c.348A>G
c.1496A>G (p.His499Arg)
c.72-23223A>G (n.72-23223A>G)
c.3332A>G (p.His1111Arg)
c.2947A>G
c.2484A>G
c.2232A>G
c.3410A>G (p.His1137Arg)
c.3356A>G (p.His1119Arg)
n.3425A>G
n.3513A>G
n.3385A>G
n.3261A>G
n.3521A>G
 dbSNP gnomAD v4
3g.47121304T>GCA352522876SETD2c.3200A>C (p.His1067Pro)
c.3233A>C (p.His1078Pro)
c.1212A>C
c.1273A>C
c.348A>C
c.1496A>C (p.His499Pro)
c.72-23223A>C (n.72-23223A>C)
c.3332A>C (p.His1111Pro)
c.2947A>C
c.2484A>C
c.2232A>C
c.3410A>C (p.His1137Pro)
c.3356A>C (p.His1119Pro)
n.3425A>C
n.3513A>C
n.3385A>C
n.3261A>C
n.3521A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47121304T=CA1362408135SETD2c.3200A= (p.His1067=)
c.3233A= (p.His1078=)
c.1212A=
c.1273A=
c.348A=
c.1496A= (p.His499=)
c.72-23223A= (n.72-23223A=)
c.3332A= (p.His1111=)
c.2947A=
c.2484A=
c.2232A=
c.3410A= (p.His1137=)
c.3356A= (p.His1119=)
n.3425A=
n.3513A=
n.3385A=
n.3261A=
n.3521A=
3g.47121305G>ACA2363395SETD2c.3199C>T (p.His1067Tyr)
c.3232C>T (p.His1078Tyr)
c.1211C>T
c.1272C>T
c.347C>T
c.1495C>T (p.His499Tyr)
c.72-23224C>T (n.72-23224C>T)
c.3331C>T (p.His1111Tyr)
c.2946C>T
c.2483C>T
c.2231C>T
c.3409C>T (p.His1137Tyr)
c.3355C>T (p.His1119Tyr)
n.3424C>T
n.3512C>T
n.3384C>T
n.3260C>T
n.3520C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47121305G>CCA352522878SETD2c.3199C>G (p.His1067Asp)
c.3232C>G (p.His1078Asp)
c.1211C>G
c.1272C>G
c.347C>G
c.1495C>G (p.His499Asp)
c.72-23224C>G (n.72-23224C>G)
c.3331C>G (p.His1111Asp)
c.2946C>G
c.2483C>G
c.2231C>G
c.3409C>G (p.His1137Asp)
c.3355C>G (p.His1119Asp)
n.3424C>G
n.3512C>G
n.3384C>G
n.3260C>G
n.3520C>G
 dbSNP
3g.47121305G=CA1362408139SETD2c.3199C= (p.His1067=)
c.3232C= (p.His1078=)
c.1211C=
c.1272C=
c.347C=
c.1495C= (p.His499=)
c.72-23224C= (n.72-23224C=)
c.3331C= (p.His1111=)
c.2946C=
c.2483C=
c.2231C=
c.3409C= (p.His1137=)
c.3355C= (p.His1119=)
n.3424C=
n.3512C=
n.3384C=
n.3260C=
n.3520C=
3g.47121305G>TCA352522880SETD2c.3199C>A (p.His1067Asn)
c.3232C>A (p.His1078Asn)
c.1211C>A
c.1272C>A
c.347C>A
c.1495C>A (p.His499Asn)
c.72-23224C>A (n.72-23224C>A)
c.3331C>A (p.His1111Asn)
c.2946C>A
c.2483C>A
c.2231C>A
c.3409C>A (p.His1137Asn)
c.3355C>A (p.His1119Asn)
n.3424C>A
n.3512C>A
n.3384C>A
n.3260C>A
n.3520C>A
3g.47121306T>ACA352522882SETD2c.3198A>T (p.Arg1066Ser)
c.3231A>T (p.Arg1077Ser)
c.1210A>T
c.1271A>T
c.346A>T
c.1494A>T (p.Arg498Ser)
c.72-23225A>T (n.72-23225A>T)
c.3330A>T (p.Arg1110Ser)
c.2945A>T
c.2482A>T
c.2230A>T
c.3408A>T (p.Arg1136Ser)
c.3354A>T (p.Arg1118Ser)
n.3423A>T
n.3511A>T
n.3383A>T
n.3259A>T
n.3519A>T
 dbSNP
3g.47121306T>CCA433600739SETD2c.3198A>G (p.Arg1066=)
c.3231A>G (p.Arg1077=)
c.1210A>G
c.1271A>G
c.346A>G
c.1494A>G (p.Arg498=)
c.72-23225A>G (n.72-23225A>G)
c.3330A>G (p.Arg1110=)
c.2945A>G
c.2482A>G
c.2230A>G
c.3408A>G (p.Arg1136=)
c.3354A>G (p.Arg1118=)
n.3423A>G
n.3511A>G
n.3383A>G
n.3259A>G
n.3519A>G
 dbSNP gnomAD v4
3g.47121306T>GCA352522883SETD2c.3198A>C (p.Arg1066Ser)
c.3231A>C (p.Arg1077Ser)
c.1210A>C
c.1271A>C
c.346A>C
c.1494A>C (p.Arg498Ser)
c.72-23225A>C (n.72-23225A>C)
c.3330A>C (p.Arg1110Ser)
c.2945A>C
c.2482A>C
c.2230A>C
c.3408A>C (p.Arg1136Ser)
c.3354A>C (p.Arg1118Ser)
n.3423A>C
n.3511A>C
n.3383A>C
n.3259A>C
n.3519A>C
 dbSNP
3g.47121307C>ACA352522884SETD2c.3197G>T (p.Arg1066Ile)
c.3230G>T (p.Arg1077Ile)
c.1209G>T
c.1270G>T
c.345G>T
c.1493G>T (p.Arg498Ile)
c.72-23226G>T (n.72-23226G>T)
c.3329G>T (p.Arg1110Ile)
c.2944G>T
c.2481G>T
c.2229G>T
c.3407G>T (p.Arg1136Ile)
c.3353G>T (p.Arg1118Ile)
n.3422G>T
n.3510G>T
n.3382G>T
n.3258G>T
n.3518G>T
 dbSNP gnomAD v4
3g.47121307C>GCA352522886SETD2c.3197G>C (p.Arg1066Thr)
c.3230G>C (p.Arg1077Thr)
c.1209G>C
c.1270G>C
c.345G>C
c.1493G>C (p.Arg498Thr)
c.72-23226G>C (n.72-23226G>C)
c.3329G>C (p.Arg1110Thr)
c.2944G>C
c.2481G>C
c.2229G>C
c.3407G>C (p.Arg1136Thr)
c.3353G>C (p.Arg1118Thr)
n.3422G>C
n.3510G>C
n.3382G>C
n.3258G>C
n.3518G>C
3g.47121307C>TCA352522888SETD2c.3197G>A (p.Arg1066Lys)
c.3230G>A (p.Arg1077Lys)
c.1209G>A
c.1270G>A
c.345G>A
c.1493G>A (p.Arg498Lys)
c.72-23226G>A (n.72-23226G>A)
c.3329G>A (p.Arg1110Lys)
c.2944G>A
c.2481G>A
c.2229G>A
c.3407G>A (p.Arg1136Lys)
c.3353G>A (p.Arg1118Lys)
n.3422G>A
n.3510G>A
n.3382G>A
n.3258G>A
n.3518G>A
 dbSNP gnomAD v4
3g.47121308T>ACA352522889SETD2c.3196A>T (p.Arg1066Ter)
c.3229A>T (p.Arg1077Ter)
c.1208A>T
c.1269A>T
c.344A>T
c.1492A>T (p.Arg498Ter)
c.72-23227A>T (n.72-23227A>T)
c.3328A>T (p.Arg1110Ter)
c.2943A>T
c.2480A>T
c.2228A>T
c.3406A>T (p.Arg1136Ter)
c.3352A>T (p.Arg1118Ter)
n.3421A>T
n.3509A>T
n.3381A>T
n.3257A>T
n.3517A>T
3g.47121308T>CCA352522890SETD2c.3196A>G (p.Arg1066Gly)
c.3229A>G (p.Arg1077Gly)
c.1208A>G
c.1269A>G
c.344A>G
c.1492A>G (p.Arg498Gly)
c.72-23227A>G (n.72-23227A>G)
c.3328A>G (p.Arg1110Gly)
c.2943A>G
c.2480A>G
c.2228A>G
c.3406A>G (p.Arg1136Gly)
c.3352A>G (p.Arg1118Gly)
n.3421A>G
n.3509A>G
n.3381A>G
n.3257A>G
n.3517A>G
3g.47121308T>GCA433600766SETD2c.3196A>C (p.Arg1066=)
c.3229A>C (p.Arg1077=)
c.1208A>C
c.1269A>C
c.344A>C
c.1492A>C (p.Arg498=)
c.72-23227A>C (n.72-23227A>C)
c.3328A>C (p.Arg1110=)
c.2943A>C
c.2480A>C
c.2228A>C
c.3406A>C (p.Arg1136=)
c.3352A>C (p.Arg1118=)
n.3421A>C
n.3509A>C
n.3381A>C
n.3257A>C
n.3517A>C
3g.47121309C>ACA352522893SETD2c.3195G>T (p.Arg1065Ser)
c.3228G>T (p.Arg1076Ser)
c.1207G>T
c.1268G>T
c.343G>T
c.1491G>T (p.Arg497Ser)
c.72-23228G>T (n.72-23228G>T)
c.3327G>T (p.Arg1109Ser)
c.2942G>T
c.2479G>T
c.2227G>T
c.3405G>T (p.Arg1135Ser)
c.3351G>T (p.Arg1117Ser)
n.3420G>T
n.3508G>T
n.3380G>T
n.3256G>T
n.3516G>T
 dbSNP
3g.47121309C>GCA352522894SETD2c.3195G>C (p.Arg1065Ser)
c.3228G>C (p.Arg1076Ser)
c.1207G>C
c.1268G>C
c.343G>C
c.1491G>C (p.Arg497Ser)
c.72-23228G>C (n.72-23228G>C)
c.3327G>C (p.Arg1109Ser)
c.2942G>C
c.2479G>C
c.2227G>C
c.3405G>C (p.Arg1135Ser)
c.3351G>C (p.Arg1117Ser)
n.3420G>C
n.3508G>C
n.3380G>C
n.3256G>C
n.3516G>C
 dbSNP
3g.47121309C>TCA433600773SETD2c.3195G>A (p.Arg1065=)
c.3228G>A (p.Arg1076=)
c.1207G>A
c.1268G>A
c.343G>A
c.1491G>A (p.Arg497=)
c.72-23228G>A (n.72-23228G>A)
c.3327G>A (p.Arg1109=)
c.2942G>A
c.2479G>A
c.2227G>A
c.3405G>A (p.Arg1135=)
c.3351G>A (p.Arg1117=)
n.3420G>A
n.3508G>A
n.3380G>A
n.3256G>A
n.3516G>A
 dbSNP
3g.47121310C>ACA352522895SETD2c.3194G>T (p.Arg1065Met)
c.3227G>T (p.Arg1076Met)
c.1206G>T
c.1267G>T
c.342G>T
c.1490G>T (p.Arg497Met)
c.72-23229G>T (n.72-23229G>T)
c.3326G>T (p.Arg1109Met)
c.2941G>T
c.2478G>T
c.2226G>T
c.3404G>T (p.Arg1135Met)
c.3350G>T (p.Arg1117Met)
n.3419G>T
n.3507G>T
n.3379G>T
n.3255G>T
n.3515G>T
 dbSNP
3g.47121310C>GCA352522896SETD2c.3194G>C (p.Arg1065Thr)
c.3227G>C (p.Arg1076Thr)
c.1206G>C
c.1267G>C
c.342G>C
c.1490G>C (p.Arg497Thr)
c.72-23229G>C (n.72-23229G>C)
c.3326G>C (p.Arg1109Thr)
c.2941G>C
c.2478G>C
c.2226G>C
c.3404G>C (p.Arg1135Thr)
c.3350G>C (p.Arg1117Thr)
n.3419G>C
n.3507G>C
n.3379G>C
n.3255G>C
n.3515G>C
 dbSNP
3g.47121310C>TCA352522897SETD2c.3194G>A (p.Arg1065Lys)
c.3227G>A (p.Arg1076Lys)
c.1206G>A
c.1267G>A
c.342G>A
c.1490G>A (p.Arg497Lys)
c.72-23229G>A (n.72-23229G>A)
c.3326G>A (p.Arg1109Lys)
c.2941G>A
c.2478G>A
c.2226G>A
c.3404G>A (p.Arg1135Lys)
c.3350G>A (p.Arg1117Lys)
n.3419G>A
n.3507G>A
n.3379G>A
n.3255G>A
n.3515G>A
 dbSNP
3g.47121311T>ACA352522899SETD2c.3193A>T (p.Arg1065Trp)
c.3226A>T (p.Arg1076Trp)
c.1205A>T
c.1266A>T
c.341A>T
c.1489A>T (p.Arg497Trp)
c.72-23230A>T (n.72-23230A>T)
c.3325A>T (p.Arg1109Trp)
c.2940A>T
c.2477A>T
c.2225A>T
c.3403A>T (p.Arg1135Trp)
c.3349A>T (p.Arg1117Trp)
n.3418A>T
n.3506A>T
n.3378A>T
n.3254A>T
n.3514A>T
 dbSNP
3g.47121311T>CCA352522901SETD2c.3193A>G (p.Arg1065Gly)
c.3226A>G (p.Arg1076Gly)
c.1205A>G
c.1266A>G
c.341A>G
c.1489A>G (p.Arg497Gly)
c.72-23230A>G (n.72-23230A>G)
c.3325A>G (p.Arg1109Gly)
c.2940A>G
c.2477A>G
c.2225A>G
c.3403A>G (p.Arg1135Gly)
c.3349A>G (p.Arg1117Gly)
n.3418A>G
n.3506A>G
n.3378A>G
n.3254A>G
n.3514A>G
 dbSNP
3g.47121311T>GCA433600790SETD2c.3193A>C (p.Arg1065=)
c.3226A>C (p.Arg1076=)
c.1205A>C
c.1266A>C
c.341A>C
c.1489A>C (p.Arg497=)
c.72-23230A>C (n.72-23230A>C)
c.3325A>C (p.Arg1109=)
c.2940A>C
c.2477A>C
c.2225A>C
c.3403A>C (p.Arg1135=)
c.3349A>C (p.Arg1117=)
n.3418A>C
n.3506A>C
n.3378A>C
n.3254A>C
n.3514A>C
3g.47121312T>ACA433600793SETD2c.3192A>T (p.Ser1064=)
c.3225A>T (p.Ser1075=)
c.1204A>T
c.1265A>T
c.340A>T
c.1488A>T (p.Ser496=)
c.72-23231A>T (n.72-23231A>T)
c.3324A>T (p.Ser1108=)
c.2939A>T
c.2476A>T
c.2224A>T
c.3402A>T (p.Ser1134=)
c.3348A>T (p.Ser1116=)
n.3417A>T
n.3505A>T
n.3377A>T
n.3253A>T
n.3513A>T
3g.47121312T>CCA2363396SETD2c.3192A>G (p.Ser1064=)
c.3225A>G (p.Ser1075=)
c.1204A>G
c.1265A>G
c.340A>G
c.1488A>G (p.Ser496=)
c.72-23231A>G (n.72-23231A>G)
c.3324A>G (p.Ser1108=)
c.2939A>G
c.2476A>G
c.2224A>G
c.3402A>G (p.Ser1134=)
c.3348A>G (p.Ser1116=)
n.3417A>G
n.3505A>G
n.3377A>G
n.3253A>G
n.3513A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47121312T>GCA433600797SETD2c.3192A>C (p.Ser1064=)
c.3225A>C (p.Ser1075=)
c.1204A>C
c.1265A>C
c.340A>C
c.1488A>C (p.Ser496=)
c.72-23231A>C (n.72-23231A>C)
c.3324A>C (p.Ser1108=)
c.2939A>C
c.2476A>C
c.2224A>C
c.3402A>C (p.Ser1134=)
c.3348A>C (p.Ser1116=)
n.3417A>C
n.3505A>C
n.3377A>C
n.3253A>C
n.3513A>C
3g.47121312T=CA1362408140SETD2c.3192A= (p.Ser1064=)
c.3225A= (p.Ser1075=)
c.1204A=
c.1265A=
c.340A=
c.1488A= (p.Ser496=)
c.72-23231A= (n.72-23231A=)
c.3324A= (p.Ser1108=)
c.2939A=
c.2476A=
c.2224A=
c.3402A= (p.Ser1134=)
c.3348A= (p.Ser1116=)
n.3417A=
n.3505A=
n.3377A=
n.3253A=
n.3513A=
3g.47121313G>ACA352522905SETD2c.3191C>T (p.Ser1064Leu)
c.3224C>T (p.Ser1075Leu)
c.1203C>T
c.1264C>T
c.339C>T
c.1487C>T (p.Ser496Leu)
c.72-23232C>T (n.72-23232C>T)
c.3323C>T (p.Ser1108Leu)
c.2938C>T
c.2475C>T
c.2223C>T
c.3401C>T (p.Ser1134Leu)
c.3347C>T (p.Ser1116Leu)
n.3416C>T
n.3504C>T
n.3376C>T
n.3252C>T
n.3512C>T
 dbSNP
3g.47121313G>CCA352522907SETD2c.3191C>G (p.Ser1064Ter)
c.3224C>G (p.Ser1075Ter)
c.1203C>G
c.1264C>G
c.339C>G
c.1487C>G (p.Ser496Ter)
c.72-23232C>G (n.72-23232C>G)
c.3323C>G (p.Ser1108Ter)
c.2938C>G
c.2475C>G
c.2223C>G
c.3401C>G (p.Ser1134Ter)
c.3347C>G (p.Ser1116Ter)
n.3416C>G
n.3504C>G
n.3376C>G
n.3252C>G
n.3512C>G
 dbSNP
3g.47121313G=CA1362408143SETD2c.3191C= (p.Ser1064=)
c.3224C= (p.Ser1075=)
c.1203C=
c.1264C=
c.339C=
c.1487C= (p.Ser496=)
c.72-23232C= (n.72-23232C=)
c.3323C= (p.Ser1108=)
c.2938C=
c.2475C=
c.2223C=
c.3401C= (p.Ser1134=)
c.3347C= (p.Ser1116=)
n.3416C=
n.3504C=
n.3376C=
n.3252C=
n.3512C=
3g.47121313G>TCA352522904SETD2c.3191C>A (p.Ser1064Ter)
c.3224C>A (p.Ser1075Ter)
c.1203C>A
c.1264C>A
c.339C>A
c.1487C>A (p.Ser496Ter)
c.72-23232C>A (n.72-23232C>A)
c.3323C>A (p.Ser1108Ter)
c.2938C>A
c.2475C>A
c.2223C>A
c.3401C>A (p.Ser1134Ter)
c.3347C>A (p.Ser1116Ter)
n.3416C>A
n.3504C>A
n.3376C>A
n.3252C>A
n.3512C>A
 dbSNP
3g.47121314A=CA1362408145SETD2c.3190T= (p.Ser1064=)
c.3223T= (p.Ser1075=)
c.1202T=
c.1263T=
c.338T=
c.1486T= (p.Ser496=)
c.72-23233T= (n.72-23233T=)
c.3322T= (p.Ser1108=)
c.2937T=
c.2474T=
c.2222T=
c.3400T= (p.Ser1134=)
c.3346T= (p.Ser1116=)
n.3415T=
n.3503T=
n.3375T=
n.3251T=
n.3511T=
3g.47121314A>CCA352522909SETD2c.3190T>G (p.Ser1064Ala)
c.3223T>G (p.Ser1075Ala)
c.1202T>G
c.1263T>G
c.338T>G
c.1486T>G (p.Ser496Ala)
c.72-23233T>G (n.72-23233T>G)
c.3322T>G (p.Ser1108Ala)
c.2937T>G
c.2474T>G
c.2222T>G
c.3400T>G (p.Ser1134Ala)
c.3346T>G (p.Ser1116Ala)
n.3415T>G
n.3503T>G
n.3375T>G
n.3251T>G
n.3511T>G
 dbSNP
3g.47121314A>GCA2363397SETD2c.3190T>C (p.Ser1064Pro)
c.3223T>C (p.Ser1075Pro)
c.1202T>C
c.1263T>C
c.338T>C
c.1486T>C (p.Ser496Pro)
c.72-23233T>C (n.72-23233T>C)
c.3322T>C (p.Ser1108Pro)
c.2937T>C
c.2474T>C
c.2222T>C
c.3400T>C (p.Ser1134Pro)
c.3346T>C (p.Ser1116Pro)
n.3415T>C
n.3503T>C
n.3375T>C
n.3251T>C
n.3511T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47121314A>TCA352522911SETD2c.3190T>A (p.Ser1064Thr)
c.3223T>A (p.Ser1075Thr)
c.1202T>A
c.1263T>A
c.338T>A
c.1486T>A (p.Ser496Thr)
c.72-23233T>A (n.72-23233T>A)
c.3322T>A (p.Ser1108Thr)
c.2937T>A
c.2474T>A
c.2222T>A
c.3400T>A (p.Ser1134Thr)
c.3346T>A (p.Ser1116Thr)
n.3415T>A
n.3503T>A
n.3375T>A
n.3251T>A
n.3511T>A
3g.47121315C>ACA352522913SETD2c.3189G>T (p.Glu1063Asp)
c.3222G>T (p.Glu1074Asp)
c.1201G>T
c.1262G>T
c.337G>T
c.1485G>T (p.Glu495Asp)
c.72-23234G>T (n.72-23234G>T)
c.3321G>T (p.Glu1107Asp)
c.2936G>T
c.2473G>T
c.2221G>T
c.3399G>T (p.Glu1133Asp)
c.3345G>T (p.Glu1115Asp)
n.3414G>T
n.3502G>T
n.3374G>T
n.3250G>T
n.3510G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.47121315C=CA1362408150SETD2c.3189G= (p.Glu1063=)
c.3222G= (p.Glu1074=)
c.1201G=
c.1262G=
c.337G=
c.1485G= (p.Glu495=)
c.72-23234G= (n.72-23234G=)
c.3321G= (p.Glu1107=)
c.2936G=
c.2473G=
c.2221G=
c.3399G= (p.Glu1133=)
c.3345G= (p.Glu1115=)
n.3414G=
n.3502G=
n.3374G=
n.3250G=
n.3510G=
3g.47121315C>GCA352522915SETD2c.3189G>C (p.Glu1063Asp)
c.3222G>C (p.Glu1074Asp)
c.1201G>C
c.1262G>C
c.337G>C
c.1485G>C (p.Glu495Asp)
c.72-23234G>C (n.72-23234G>C)
c.3321G>C (p.Glu1107Asp)
c.2936G>C
c.2473G>C
c.2221G>C
c.3399G>C (p.Glu1133Asp)
c.3345G>C (p.Glu1115Asp)
n.3414G>C
n.3502G>C
n.3374G>C
n.3250G>C
n.3510G>C
 dbSNP
3g.47121315C>TCA433600801SETD2c.3189G>A (p.Glu1063=)
c.3222G>A (p.Glu1074=)
c.1201G>A
c.1262G>A
c.337G>A
c.1485G>A (p.Glu495=)
c.72-23234G>A (n.72-23234G>A)
c.3321G>A (p.Glu1107=)
c.2936G>A
c.2473G>A
c.2221G>A
c.3399G>A (p.Glu1133=)
c.3345G>A (p.Glu1115=)
n.3414G>A
n.3502G>A
n.3374G>A
n.3250G>A
n.3510G>A
 dbSNP gnomAD v4
3g.47121316T>ACA2363398SETD2c.3188A>T (p.Glu1063Val)
c.3221A>T (p.Glu1074Val)
c.1200A>T
c.1261A>T
c.336A>T
c.1484A>T (p.Glu495Val)
c.72-23235A>T (n.72-23235A>T)
c.3320A>T (p.Glu1107Val)
c.2935A>T
c.2472A>T
c.2220A>T
c.3398A>T (p.Glu1133Val)
c.3344A>T (p.Glu1115Val)
n.3413A>T
n.3501A>T
n.3373A>T
n.3249A>T
n.3509A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47121316T>CCA352522917SETD2c.3188A>G (p.Glu1063Gly)
c.3221A>G (p.Glu1074Gly)
c.1200A>G
c.1261A>G
c.336A>G
c.1484A>G (p.Glu495Gly)
c.72-23235A>G (n.72-23235A>G)
c.3320A>G (p.Glu1107Gly)
c.2935A>G
c.2472A>G
c.2220A>G
c.3398A>G (p.Glu1133Gly)
c.3344A>G (p.Glu1115Gly)
n.3413A>G
n.3501A>G
n.3373A>G
n.3249A>G
n.3509A>G
3g.47121316T>GCA352522919SETD2c.3188A>C (p.Glu1063Ala)
c.3221A>C (p.Glu1074Ala)
c.1200A>C
c.1261A>C
c.336A>C
c.1484A>C (p.Glu495Ala)
c.72-23235A>C (n.72-23235A>C)
c.3320A>C (p.Glu1107Ala)
c.2935A>C
c.2472A>C
c.2220A>C
c.3398A>C (p.Glu1133Ala)
c.3344A>C (p.Glu1115Ala)
n.3413A>C
n.3501A>C
n.3373A>C
n.3249A>C
n.3509A>C
3g.47121316T=CA1362408155SETD2c.3188A= (p.Glu1063=)
c.3221A= (p.Glu1074=)
c.1200A=
c.1261A=
c.336A=
c.1484A= (p.Glu495=)
c.72-23235A= (n.72-23235A=)
c.3320A= (p.Glu1107=)
c.2935A=
c.2472A=
c.2220A=
c.3398A= (p.Glu1133=)
c.3344A= (p.Glu1115=)
n.3413A=
n.3501A=
n.3373A=
n.3249A=
n.3509A=
3g.47121317C>ACA352522921SETD2c.3187G>T (p.Glu1063Ter)
c.3220G>T (p.Glu1074Ter)
c.1199G>T
c.1260G>T
c.335G>T
c.1483G>T (p.Glu495Ter)
c.72-23236G>T (n.72-23236G>T)
c.3319G>T (p.Glu1107Ter)
c.2934G>T
c.2471G>T
c.2219G>T
c.3397G>T (p.Glu1133Ter)
c.3343G>T (p.Glu1115Ter)
n.3412G>T
n.3500G>T
n.3372G>T
n.3248G>T
n.3508G>T
 dbSNP gnomAD v4
3g.47121317C=CA1362408158SETD2c.3187G= (p.Glu1063=)
c.3220G= (p.Glu1074=)
c.1199G=
c.1260G=
c.335G=
c.1483G= (p.Glu495=)
c.72-23236G= (n.72-23236G=)
c.3319G= (p.Glu1107=)
c.2934G=
c.2471G=
c.2219G=
c.3397G= (p.Glu1133=)
c.3343G= (p.Glu1115=)
n.3412G=
n.3500G=
n.3372G=
n.3248G=
n.3508G=
3g.47121317C>GCA352522923SETD2c.3187G>C (p.Glu1063Gln)
c.3220G>C (p.Glu1074Gln)
c.1199G>C
c.1260G>C
c.335G>C
c.1483G>C (p.Glu495Gln)
c.72-23236G>C (n.72-23236G>C)
c.3319G>C (p.Glu1107Gln)
c.2934G>C
c.2471G>C
c.2219G>C
c.3397G>C (p.Glu1133Gln)
c.3343G>C (p.Glu1115Gln)
n.3412G>C
n.3500G>C
n.3372G>C
n.3248G>C
n.3508G>C
 dbSNP
3g.47121317C>TCA2363399SETD2c.3187G>A (p.Glu1063Lys)
c.3220G>A (p.Glu1074Lys)
c.1199G>A
c.1260G>A
c.335G>A
c.1483G>A (p.Glu495Lys)
c.72-23236G>A (n.72-23236G>A)
c.3319G>A (p.Glu1107Lys)
c.2934G>A
c.2471G>A
c.2219G>A
c.3397G>A (p.Glu1133Lys)
c.3343G>A (p.Glu1115Lys)
n.3412G>A
n.3500G>A
n.3372G>A
n.3248G>A
n.3508G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47121318C>ACA352522925SETD2c.3186G>T (p.Leu1062Phe)
c.3219G>T (p.Leu1073Phe)
c.1198G>T
c.1259G>T
c.334G>T
c.1482G>T (p.Leu494Phe)
c.72-23237G>T (n.72-23237G>T)
c.3318G>T (p.Leu1106Phe)
c.2933G>T
c.2470G>T
c.2218G>T
c.3396G>T (p.Leu1132Phe)
c.3342G>T (p.Leu1114Phe)
n.3411G>T
n.3499G>T
n.3371G>T
n.3247G>T
n.3507G>T
 dbSNP
3g.47121318C>GCA352522926SETD2c.3186G>C (p.Leu1062Phe)
c.3219G>C (p.Leu1073Phe)
c.1198G>C
c.1259G>C
c.334G>C
c.1482G>C (p.Leu494Phe)
c.72-23237G>C (n.72-23237G>C)
c.3318G>C (p.Leu1106Phe)
c.2933G>C
c.2470G>C
c.2218G>C
c.3396G>C (p.Leu1132Phe)
c.3342G>C (p.Leu1114Phe)
n.3411G>C
n.3499G>C
n.3371G>C
n.3247G>C
n.3507G>C
 dbSNP
3g.47121318C>TCA433600824SETD2c.3186G>A (p.Leu1062=)
c.3219G>A (p.Leu1073=)
c.1198G>A
c.1259G>A
c.334G>A
c.1482G>A (p.Leu494=)
c.72-23237G>A (n.72-23237G>A)
c.3318G>A (p.Leu1106=)
c.2933G>A
c.2470G>A
c.2218G>A
c.3396G>A (p.Leu1132=)
c.3342G>A (p.Leu1114=)
n.3411G>A
n.3499G>A
n.3371G>A
n.3247G>A
n.3507G>A
 dbSNP
3g.47121319A=CA1362408165SETD2c.3185T= (p.Leu1062=)
c.3218T= (p.Leu1073=)
c.1197T=
c.1258T=
c.333T=
c.1481T= (p.Leu494=)
c.72-23238T= (n.72-23238T=)
c.3317T= (p.Leu1106=)
c.2932T=
c.2469T=
c.2217T=
c.3395T= (p.Leu1132=)
c.3341T= (p.Leu1114=)
n.3410T=
n.3498T=
n.3370T=
n.3246T=
n.3506T=
3g.47121319A>CCA2363401SETD2c.3185T>G (p.Leu1062Trp)
c.3218T>G (p.Leu1073Trp)
c.1197T>G
c.1258T>G
c.333T>G
c.1481T>G (p.Leu494Trp)
c.72-23238T>G (n.72-23238T>G)
c.3317T>G (p.Leu1106Trp)
c.2932T>G
c.2469T>G
c.2217T>G
c.3395T>G (p.Leu1132Trp)
c.3341T>G (p.Leu1114Trp)
n.3410T>G
n.3498T>G
n.3370T>G
n.3246T>G
n.3506T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.47121319A>GCA2363400SETD2c.3185T>C (p.Leu1062Ser)
c.3218T>C (p.Leu1073Ser)
c.1197T>C
c.1258T>C
c.333T>C
c.1481T>C (p.Leu494Ser)
c.72-23238T>C (n.72-23238T>C)
c.3317T>C (p.Leu1106Ser)
c.2932T>C
c.2469T>C
c.2217T>C
c.3395T>C (p.Leu1132Ser)
c.3341T>C (p.Leu1114Ser)
n.3410T>C
n.3498T>C
n.3370T>C
n.3246T>C
n.3506T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47121319A>TCA352522930SETD2c.3185T>A (p.Leu1062Ter)
c.3218T>A (p.Leu1073Ter)
c.1197T>A
c.1258T>A
c.333T>A
c.1481T>A (p.Leu494Ter)
c.72-23238T>A (n.72-23238T>A)
c.3317T>A (p.Leu1106Ter)
c.2932T>A
c.2469T>A
c.2217T>A
c.3395T>A (p.Leu1132Ter)
c.3341T>A (p.Leu1114Ter)
n.3410T>A
n.3498T>A
n.3370T>A
n.3246T>A
n.3506T>A
 dbSNP
3g.47121320A=CA1362408167SETD2c.3184T= (p.Leu1062=)
c.3217T= (p.Leu1073=)
c.1196T=
c.1257T=
c.332T=
c.1480T= (p.Leu494=)
c.72-23239T= (n.72-23239T=)
c.3316T= (p.Leu1106=)
c.2931T=
c.2468T=
c.2216T=
c.3394T= (p.Leu1132=)
c.3340T= (p.Leu1114=)
n.3409T=
n.3497T=
n.3369T=
n.3245T=
n.3505T=
3g.47121320A>CCA352522931SETD2c.3184T>G (p.Leu1062Val)
c.3217T>G (p.Leu1073Val)
c.1196T>G
c.1257T>G
c.332T>G
c.1480T>G (p.Leu494Val)
c.72-23239T>G (n.72-23239T>G)
c.3316T>G (p.Leu1106Val)
c.2931T>G
c.2468T>G
c.2216T>G
c.3394T>G (p.Leu1132Val)
c.3340T>G (p.Leu1114Val)
n.3409T>G
n.3497T>G
n.3369T>G
n.3245T>G
n.3505T>G
 dbSNP
3g.47121320A>GCA2363402SETD2c.3184T>C (p.Leu1062=)
c.3217T>C (p.Leu1073=)
c.1196T>C
c.1257T>C
c.332T>C
c.1480T>C (p.Leu494=)
c.72-23239T>C (n.72-23239T>C)
c.3316T>C (p.Leu1106=)
c.2931T>C
c.2468T>C
c.2216T>C
c.3394T>C (p.Leu1132=)
c.3340T>C (p.Leu1114=)
n.3409T>C
n.3497T>C
n.3369T>C
n.3245T>C
n.3505T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.47121320A>TCA352522932SETD2c.3184T>A (p.Leu1062Met)
c.3217T>A (p.Leu1073Met)
c.1196T>A
c.1257T>A
c.332T>A
c.1480T>A (p.Leu494Met)
c.72-23239T>A (n.72-23239T>A)
c.3316T>A (p.Leu1106Met)
c.2931T>A
c.2468T>A
c.2216T>A
c.3394T>A (p.Leu1132Met)
c.3340T>A (p.Leu1114Met)
n.3409T>A
n.3497T>A
n.3369T>A
n.3245T>A
n.3505T>A
3g.47121321T>ACA352522936SETD2c.3183A>T (p.Arg1061Ser)
c.3216A>T (p.Arg1072Ser)
c.1195A>T
c.1256A>T
c.331A>T
c.1479A>T (p.Arg493Ser)
c.72-23240A>T (n.72-23240A>T)
c.3315A>T (p.Arg1105Ser)
c.2930A>T
c.2467A>T
c.2215A>T
c.3393A>T (p.Arg1131Ser)
c.3339A>T (p.Arg1113Ser)
n.3408A>T
n.3496A>T
n.3368A>T
n.3244A>T
n.3504A>T
 dbSNP
3g.47121321T>CCA73809174SETD2c.3183A>G (p.Arg1061=)
c.3216A>G (p.Arg1072=)
c.1195A>G
c.1256A>G
c.331A>G
c.1479A>G (p.Arg493=)
c.72-23240A>G (n.72-23240A>G)
c.3315A>G (p.Arg1105=)
c.2930A>G
c.2467A>G
c.2215A>G
c.3393A>G (p.Arg1131=)
c.3339A>G (p.Arg1113=)
n.3408A>G
n.3496A>G
n.3368A>G
n.3244A>G
n.3504A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47121321T>GCA352522937SETD2c.3183A>C (p.Arg1061Ser)
c.3216A>C (p.Arg1072Ser)
c.1195A>C
c.1256A>C
c.331A>C
c.1479A>C (p.Arg493Ser)
c.72-23240A>C (n.72-23240A>C)
c.3315A>C (p.Arg1105Ser)
c.2930A>C
c.2467A>C
c.2215A>C
c.3393A>C (p.Arg1131Ser)
c.3339A>C (p.Arg1113Ser)
n.3408A>C
n.3496A>C
n.3368A>C
n.3244A>C
n.3504A>C
 dbSNP
3g.47121321T=CA1362408171SETD2c.3183A= (p.Arg1061=)
c.3216A= (p.Arg1072=)
c.1195A=
c.1256A=
c.331A=
c.1479A= (p.Arg493=)
c.72-23240A= (n.72-23240A=)
c.3315A= (p.Arg1105=)
c.2930A=
c.2467A=
c.2215A=
c.3393A= (p.Arg1131=)
c.3339A= (p.Arg1113=)
n.3408A=
n.3496A=
n.3368A=
n.3244A=
n.3504A=
3g.47121322C>ACA352522939SETD2c.3182G>T (p.Arg1061Ile)
c.3215G>T (p.Arg1072Ile)
c.1194G>T
c.1255G>T
c.330G>T
c.1478G>T (p.Arg493Ile)
c.72-23241G>T (n.72-23241G>T)
c.3314G>T (p.Arg1105Ile)
c.2929G>T
c.2466G>T
c.2214G>T
c.3392G>T (p.Arg1131Ile)
c.3338G>T (p.Arg1113Ile)
n.3407G>T
n.3495G>T
n.3367G>T
n.3243G>T
n.3503G>T
 dbSNP
3g.47121322C>GCA352522941SETD2c.3182G>C (p.Arg1061Thr)
c.3215G>C (p.Arg1072Thr)
c.1194G>C
c.1255G>C
c.330G>C
c.1478G>C (p.Arg493Thr)
c.72-23241G>C (n.72-23241G>C)
c.3314G>C (p.Arg1105Thr)
c.2929G>C
c.2466G>C
c.2214G>C
c.3392G>C (p.Arg1131Thr)
c.3338G>C (p.Arg1113Thr)
n.3407G>C
n.3495G>C
n.3367G>C
n.3243G>C
n.3503G>C
 dbSNP
3g.47121322C>TCA352522942SETD2c.3182G>A (p.Arg1061Lys)
c.3215G>A (p.Arg1072Lys)
c.1194G>A
c.1255G>A
c.330G>A
c.1478G>A (p.Arg493Lys)
c.72-23241G>A (n.72-23241G>A)
c.3314G>A (p.Arg1105Lys)
c.2929G>A
c.2466G>A
c.2214G>A
c.3392G>A (p.Arg1131Lys)
c.3338G>A (p.Arg1113Lys)
n.3407G>A
n.3495G>A
n.3367G>A
n.3243G>A
n.3503G>A
 dbSNP
3g.47121323T>ACA352522944SETD2c.3181A>T (p.Arg1061Ter)
c.3214A>T (p.Arg1072Ter)
c.1193A>T
c.1254A>T
c.329A>T
c.1477A>T (p.Arg493Ter)
c.72-23242A>T (n.72-23242A>T)
c.3313A>T (p.Arg1105Ter)
c.2928A>T
c.2465A>T
c.2213A>T
c.3391A>T (p.Arg1131Ter)
c.3337A>T (p.Arg1113Ter)
n.3406A>T
n.3494A>T
n.3366A>T
n.3242A>T
n.3502A>T
 dbSNP
3g.47121323T>CCA352522945SETD2c.3181A>G (p.Arg1061Gly)
c.3214A>G (p.Arg1072Gly)
c.1193A>G
c.1254A>G
c.329A>G
c.1477A>G (p.Arg493Gly)
c.72-23242A>G (n.72-23242A>G)
c.3313A>G (p.Arg1105Gly)
c.2928A>G
c.2465A>G
c.2213A>G
c.3391A>G (p.Arg1131Gly)
c.3337A>G (p.Arg1113Gly)
n.3406A>G
n.3494A>G
n.3366A>G
n.3242A>G
n.3502A>G
 dbSNP gnomAD v4
3g.47121323T>GCA433600844SETD2c.3181A>C (p.Arg1061=)
c.3214A>C (p.Arg1072=)
c.1193A>C
c.1254A>C
c.329A>C
c.1477A>C (p.Arg493=)
c.72-23242A>C (n.72-23242A>C)
c.3313A>C (p.Arg1105=)
c.2928A>C
c.2465A>C
c.2213A>C
c.3391A>C (p.Arg1131=)
c.3337A>C (p.Arg1113=)
n.3406A>C
n.3494A>C
n.3366A>C
n.3242A>C
n.3502A>C
3g.47121324C>ACA352522946SETD2c.3180G>T (p.Glu1060Asp)
c.3213G>T (p.Glu1071Asp)
c.1192G>T
c.1253G>T
c.328G>T
c.1476G>T (p.Glu492Asp)
c.72-23243G>T (n.72-23243G>T)
c.3312G>T (p.Glu1104Asp)
c.2927G>T
c.2464G>T
c.2212G>T
c.3390G>T (p.Glu1130Asp)
c.3336G>T (p.Glu1112Asp)
n.3405G>T
n.3493G>T
n.3365G>T
n.3241G>T
n.3501G>T
 dbSNP
3g.47121324C>GCA352522947SETD2c.3180G>C (p.Glu1060Asp)
c.3213G>C (p.Glu1071Asp)
c.1192G>C
c.1253G>C
c.328G>C
c.1476G>C (p.Glu492Asp)
c.72-23243G>C (n.72-23243G>C)
c.3312G>C (p.Glu1104Asp)
c.2927G>C
c.2464G>C
c.2212G>C
c.3390G>C (p.Glu1130Asp)
c.3336G>C (p.Glu1112Asp)
n.3405G>C
n.3493G>C
n.3365G>C
n.3241G>C
n.3501G>C
3g.47121324C>TCA433600847SETD2c.3180G>A (p.Glu1060=)
c.3213G>A (p.Glu1071=)
c.1192G>A
c.1253G>A
c.328G>A
c.1476G>A (p.Glu492=)
c.72-23243G>A (n.72-23243G>A)
c.3312G>A (p.Glu1104=)
c.2927G>A
c.2464G>A
c.2212G>A
c.3390G>A (p.Glu1130=)
c.3336G>A (p.Glu1112=)
n.3405G>A
n.3493G>A
n.3365G>A
n.3241G>A
n.3501G>A
 dbSNP
3g.47121325_47121334delCA891841810SETD2c.3171_3180del (p.Trp1057Ter)
c.3204_3213del (p.Trp1068Ter)
c.1183_1192del
c.1244_1253del
c.319_328del
c.1467_1476del (p.Trp489Ter)
c.72-23252_72-23243del (n.72-23252_72-23243del)
c.3303_3312del (p.Trp1101Ter)
c.2918_2927del
c.2455_2464del
c.2203_2212del
c.3381_3390del (p.Trp1127Ter)
c.3327_3336del (p.Trp1109Ter)
n.3396_3405del
n.3484_3493del
n.3356_3365del
n.3232_3241del
n.3492_3501del
3g.47121325T>ACA352522949SETD2c.3179A>T (p.Glu1060Val)
c.3212A>T (p.Glu1071Val)
c.1191A>T
c.1252A>T
c.327A>T
c.1475A>T (p.Glu492Val)
c.72-23244A>T (n.72-23244A>T)
c.3311A>T (p.Glu1104Val)
c.2926A>T
c.2463A>T
c.2211A>T
c.3389A>T (p.Glu1130Val)
c.3335A>T (p.Glu1112Val)
n.3404A>T
n.3492A>T
n.3364A>T
n.3240A>T
n.3500A>T
 dbSNP
3g.47121325T>CCA352522951SETD2c.3179A>G (p.Glu1060Gly)
c.3212A>G (p.Glu1071Gly)
c.1191A>G
c.1252A>G
c.327A>G
c.1475A>G (p.Glu492Gly)
c.72-23244A>G (n.72-23244A>G)
c.3311A>G (p.Glu1104Gly)
c.2926A>G
c.2463A>G
c.2211A>G
c.3389A>G (p.Glu1130Gly)
c.3335A>G (p.Glu1112Gly)
n.3404A>G
n.3492A>G
n.3364A>G
n.3240A>G
n.3500A>G
 dbSNP
3g.47121325T>GCA352522953SETD2c.3179A>C (p.Glu1060Ala)
c.3212A>C (p.Glu1071Ala)
c.1191A>C
c.1252A>C
c.327A>C
c.1475A>C (p.Glu492Ala)
c.72-23244A>C (n.72-23244A>C)
c.3311A>C (p.Glu1104Ala)
c.2926A>C
c.2463A>C
c.2211A>C
c.3389A>C (p.Glu1130Ala)
c.3335A>C (p.Glu1112Ala)
n.3404A>C
n.3492A>C
n.3364A>C
n.3240A>C
n.3500A>C
3g.47121326C>ACA352522954SETD2c.3178G>T (p.Glu1060Ter)
c.3211G>T (p.Glu1071Ter)
c.1190G>T
c.1251G>T
c.326G>T
c.1474G>T (p.Glu492Ter)
c.72-23245G>T (n.72-23245G>T)
c.3310G>T (p.Glu1104Ter)
c.2925G>T
c.2462G>T
c.2210G>T
c.3388G>T (p.Glu1130Ter)
c.3334G>T (p.Glu1112Ter)
n.3403G>T
n.3491G>T
n.3363G>T
n.3239G>T
n.3499G>T
 dbSNP
3g.47121326C>GCA352522958SETD2c.3178G>C (p.Glu1060Gln)
c.3211G>C (p.Glu1071Gln)
c.1190G>C
c.1251G>C
c.326G>C
c.1474G>C (p.Glu492Gln)
c.72-23245G>C (n.72-23245G>C)
c.3310G>C (p.Glu1104Gln)
c.2925G>C
c.2462G>C
c.2210G>C
c.3388G>C (p.Glu1130Gln)
c.3334G>C (p.Glu1112Gln)
n.3403G>C
n.3491G>C
n.3363G>C
n.3239G>C
n.3499G>C
 dbSNP
3g.47121326C>TCA352522956SETD2c.3178G>A (p.Glu1060Lys)
c.3211G>A (p.Glu1071Lys)
c.1190G>A
c.1251G>A
c.326G>A
c.1474G>A (p.Glu492Lys)
c.72-23245G>A (n.72-23245G>A)
c.3310G>A (p.Glu1104Lys)
c.2925G>A
c.2462G>A
c.2210G>A
c.3388G>A (p.Glu1130Lys)
c.3334G>A (p.Glu1112Lys)
n.3403G>A
n.3491G>A
n.3363G>A
n.3239G>A
n.3499G>A
 dbSNP
3g.47121327A=CA1362408175SETD2c.3177T= (p.Asp1059=)
c.3210T= (p.Asp1070=)
c.1189T=
c.1250T=
c.325T=
c.1473T= (p.Asp491=)
c.72-23246T= (n.72-23246T=)
c.3309T= (p.Asp1103=)
c.2924T=
c.2461T=
c.2209T=
c.3387T= (p.Asp1129=)
c.3333T= (p.Asp1111=)
n.3402T=
n.3490T=
n.3362T=
n.3238T=
n.3498T=
3g.47121327A>CCA352522960SETD2c.3177T>G (p.Asp1059Glu)
c.3210T>G (p.Asp1070Glu)
c.1189T>G
c.1250T>G
c.325T>G
c.1473T>G (p.Asp491Glu)
c.72-23246T>G (n.72-23246T>G)
c.3309T>G (p.Asp1103Glu)
c.2924T>G
c.2461T>G
c.2209T>G
c.3387T>G (p.Asp1129Glu)
c.3333T>G (p.Asp1111Glu)
n.3402T>G
n.3490T>G
n.3362T>G
n.3238T>G
n.3498T>G
 dbSNP
3g.47121327A>GCA433600869SETD2c.3177T>C (p.Asp1059=)
c.3210T>C (p.Asp1070=)
c.1189T>C
c.1250T>C
c.325T>C
c.1473T>C (p.Asp491=)
c.72-23246T>C (n.72-23246T>C)
c.3309T>C (p.Asp1103=)
c.2924T>C
c.2461T>C
c.2209T>C
c.3387T>C (p.Asp1129=)
c.3333T>C (p.Asp1111=)
n.3402T>C
n.3490T>C
n.3362T>C
n.3238T>C
n.3498T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47121327A>TCA352522961SETD2c.3177T>A (p.Asp1059Glu)
c.3210T>A (p.Asp1070Glu)
c.1189T>A
c.1250T>A
c.325T>A
c.1473T>A (p.Asp491Glu)
c.72-23246T>A (n.72-23246T>A)
c.3309T>A (p.Asp1103Glu)
c.2924T>A
c.2461T>A
c.2209T>A
c.3387T>A (p.Asp1129Glu)
c.3333T>A (p.Asp1111Glu)
n.3402T>A
n.3490T>A
n.3362T>A
n.3238T>A
n.3498T>A
 dbSNP
3g.47121328T>ACA352522963SETD2c.3176A>T (p.Asp1059Val)
c.3209A>T (p.Asp1070Val)
c.1188A>T
c.1249A>T
c.324A>T
c.1472A>T (p.Asp491Val)
c.72-23247A>T (n.72-23247A>T)
c.3308A>T (p.Asp1103Val)
c.2923A>T
c.2460A>T
c.2208A>T
c.3386A>T (p.Asp1129Val)
c.3332A>T (p.Asp1111Val)
n.3401A>T
n.3489A>T
n.3361A>T
n.3237A>T
n.3497A>T
 dbSNP
3g.47121328T>CCA352522964SETD2c.3176A>G (p.Asp1059Gly)
c.3209A>G (p.Asp1070Gly)
c.1188A>G
c.1249A>G
c.324A>G
c.1472A>G (p.Asp491Gly)
c.72-23247A>G (n.72-23247A>G)
c.3308A>G (p.Asp1103Gly)
c.2923A>G
c.2460A>G
c.2208A>G
c.3386A>G (p.Asp1129Gly)
c.3332A>G (p.Asp1111Gly)
n.3401A>G
n.3489A>G
n.3361A>G
n.3237A>G
n.3497A>G
 dbSNP
3g.47121328T>GCA352522966SETD2c.3176A>C (p.Asp1059Ala)
c.3209A>C (p.Asp1070Ala)
c.1188A>C
c.1249A>C
c.324A>C
c.1472A>C (p.Asp491Ala)
c.72-23247A>C (n.72-23247A>C)
c.3308A>C (p.Asp1103Ala)
c.2923A>C
c.2460A>C
c.2208A>C
c.3386A>C (p.Asp1129Ala)
c.3332A>C (p.Asp1111Ala)
n.3401A>C
n.3489A>C
n.3361A>C
n.3237A>C
n.3497A>C
3g.47121329C>ACA352522967SETD2c.3175G>T (p.Asp1059Tyr)
c.3208G>T (p.Asp1070Tyr)
c.1187G>T
c.1248G>T
c.323G>T
c.1471G>T (p.Asp491Tyr)
c.72-23248G>T (n.72-23248G>T)
c.3307G>T (p.Asp1103Tyr)
c.2922G>T
c.2459G>T
c.2207G>T
c.3385G>T (p.Asp1129Tyr)
c.3331G>T (p.Asp1111Tyr)
n.3400G>T
n.3488G>T
n.3360G>T
n.3236G>T
n.3496G>T
 dbSNP
3g.47121329C=CA1362408178SETD2c.3175G= (p.Asp1059=)
c.3208G= (p.Asp1070=)
c.1187G=
c.1248G=
c.323G=
c.1471G= (p.Asp491=)
c.72-23248G= (n.72-23248G=)
c.3307G= (p.Asp1103=)
c.2922G=
c.2459G=
c.2207G=
c.3385G= (p.Asp1129=)
c.3331G= (p.Asp1111=)
n.3400G=
n.3488G=
n.3360G=
n.3236G=
n.3496G=
3g.47121329C>GCA352522969SETD2c.3175G>C (p.Asp1059His)
c.3208G>C (p.Asp1070His)
c.1187G>C
c.1248G>C
c.323G>C
c.1471G>C (p.Asp491His)
c.72-23248G>C (n.72-23248G>C)
c.3307G>C (p.Asp1103His)
c.2922G>C
c.2459G>C
c.2207G>C
c.3385G>C (p.Asp1129His)
c.3331G>C (p.Asp1111His)
n.3400G>C
n.3488G>C
n.3360G>C
n.3236G>C
n.3496G>C
 dbSNP gnomAD v3 gnomAD v4
3g.47121329C>TCA352522971SETD2c.3175G>A (p.Asp1059Asn)
c.3208G>A (p.Asp1070Asn)
c.1187G>A
c.1248G>A
c.323G>A
c.1471G>A (p.Asp491Asn)
c.72-23248G>A (n.72-23248G>A)
c.3307G>A (p.Asp1103Asn)
c.2922G>A
c.2459G>A
c.2207G>A
c.3385G>A (p.Asp1129Asn)
c.3331G>A (p.Asp1111Asn)
n.3400G>A
n.3488G>A
n.3360G>A
n.3236G>A
n.3496G>A
 dbSNP gnomAD v4
3g.47121330T>ACA352522973SETD2c.3174A>T (p.Glu1058Asp)
c.3207A>T (p.Glu1069Asp)
c.1186A>T
c.1247A>T
c.322A>T
c.1470A>T (p.Glu490Asp)
c.72-23249A>T (n.72-23249A>T)
c.3306A>T (p.Glu1102Asp)
c.2921A>T
c.2458A>T
c.2206A>T
c.3384A>T (p.Glu1128Asp)
c.3330A>T (p.Glu1110Asp)
n.3399A>T
n.3487A>T
n.3359A>T
n.3235A>T
n.3495A>T
 dbSNP gnomAD v3 gnomAD v4
3g.47121330T>CCA433600883SETD2c.3174A>G (p.Glu1058=)
c.3207A>G (p.Glu1069=)
c.1186A>G
c.1247A>G
c.322A>G
c.1470A>G (p.Glu490=)
c.72-23249A>G (n.72-23249A>G)
c.3306A>G (p.Glu1102=)
c.2921A>G
c.2458A>G
c.2206A>G
c.3384A>G (p.Glu1128=)
c.3330A>G (p.Glu1110=)
n.3399A>G
n.3487A>G
n.3359A>G
n.3235A>G
n.3495A>G
 dbSNP
3g.47121330T>GCA352522974SETD2c.3174A>C (p.Glu1058Asp)
c.3207A>C (p.Glu1069Asp)
c.1186A>C
c.1247A>C
c.322A>C
c.1470A>C (p.Glu490Asp)
c.72-23249A>C (n.72-23249A>C)
c.3306A>C (p.Glu1102Asp)
c.2921A>C
c.2458A>C
c.2206A>C
c.3384A>C (p.Glu1128Asp)
c.3330A>C (p.Glu1110Asp)
n.3399A>C
n.3487A>C
n.3359A>C
n.3235A>C
n.3495A>C
3g.47121330T=CA1362408182SETD2c.3174A= (p.Glu1058=)
c.3207A= (p.Glu1069=)
c.1186A=
c.1247A=
c.322A=
c.1470A= (p.Glu490=)
c.72-23249A= (n.72-23249A=)
c.3306A= (p.Glu1102=)
c.2921A=
c.2458A=
c.2206A=
c.3384A= (p.Glu1128=)
c.3330A= (p.Glu1110=)
n.3399A=
n.3487A=
n.3359A=
n.3235A=
n.3495A=
3g.47121331T>ACA352522980SETD2c.3173A>T (p.Glu1058Val)
c.3206A>T (p.Glu1069Val)
c.1185A>T
c.1246A>T
c.321A>T
c.1469A>T (p.Glu490Val)
c.72-23250A>T (n.72-23250A>T)
c.3305A>T (p.Glu1102Val)
c.2920A>T
c.2457A>T
c.2205A>T
c.3383A>T (p.Glu1128Val)
c.3329A>T (p.Glu1110Val)
n.3398A>T
n.3486A>T
n.3358A>T
n.3234A>T
n.3494A>T
3g.47121331T>CCA352522979SETD2c.3173A>G (p.Glu1058Gly)
c.3206A>G (p.Glu1069Gly)
c.1185A>G
c.1246A>G
c.321A>G
c.1469A>G (p.Glu490Gly)
c.72-23250A>G (n.72-23250A>G)
c.3305A>G (p.Glu1102Gly)
c.2920A>G
c.2457A>G
c.2205A>G
c.3383A>G (p.Glu1128Gly)
c.3329A>G (p.Glu1110Gly)
n.3398A>G
n.3486A>G
n.3358A>G
n.3234A>G
n.3494A>G
 gnomAD v4
3g.47121331T>GCA352522977SETD2c.3173A>C (p.Glu1058Ala)
c.3206A>C (p.Glu1069Ala)
c.1185A>C
c.1246A>C
c.321A>C
c.1469A>C (p.Glu490Ala)
c.72-23250A>C (n.72-23250A>C)
c.3305A>C (p.Glu1102Ala)
c.2920A>C
c.2457A>C
c.2205A>C
c.3383A>C (p.Glu1128Ala)
c.3329A>C (p.Glu1110Ala)
n.3398A>C
n.3486A>C
n.3358A>C
n.3234A>C
n.3494A>C
3g.47121332C>ACA352522985SETD2c.3172G>T (p.Glu1058Ter)
c.3205G>T (p.Glu1069Ter)
c.1184G>T
c.1245G>T
c.320G>T
c.1468G>T (p.Glu490Ter)
c.72-23251G>T (n.72-23251G>T)
c.3304G>T (p.Glu1102Ter)
c.2919G>T
c.2456G>T
c.2204G>T
c.3382G>T (p.Glu1128Ter)
c.3328G>T (p.Glu1110Ter)
n.3397G>T
n.3485G>T
n.3357G>T
n.3233G>T
n.3493G>T
 dbSNP COSMIC COSMIC
3g.47121332C=CA1362408183SETD2c.3172G= (p.Glu1058=)
c.3205G= (p.Glu1069=)
c.1184G=
c.1245G=
c.320G=
c.1468G= (p.Glu490=)
c.72-23251G= (n.72-23251G=)
c.3304G= (p.Glu1102=)
c.2919G=
c.2456G=
c.2204G=
c.3382G= (p.Glu1128=)
c.3328G= (p.Glu1110=)
n.3397G=
n.3485G=
n.3357G=
n.3233G=
n.3493G=
3g.47121332C>GCA352522983SETD2c.3172G>C (p.Glu1058Gln)
c.3205G>C (p.Glu1069Gln)
c.1184G>C
c.1245G>C
c.320G>C
c.1468G>C (p.Glu490Gln)
c.72-23251G>C (n.72-23251G>C)
c.3304G>C (p.Glu1102Gln)
c.2919G>C
c.2456G>C
c.2204G>C
c.3382G>C (p.Glu1128Gln)
c.3328G>C (p.Glu1110Gln)
n.3397G>C
n.3485G>C
n.3357G>C
n.3233G>C
n.3493G>C
 dbSNP
3g.47121332C>TCA2363403SETD2c.3172G>A (p.Glu1058Lys)
c.3205G>A (p.Glu1069Lys)
c.1184G>A
c.1245G>A
c.320G>A
c.1468G>A (p.Glu490Lys)
c.72-23251G>A (n.72-23251G>A)
c.3304G>A (p.Glu1102Lys)
c.2919G>A
c.2456G>A
c.2204G>A
c.3382G>A (p.Glu1128Lys)
c.3328G>A (p.Glu1110Lys)
n.3397G>A
n.3485G>A
n.3357G>A
n.3233G>A
n.3493G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47121333C>ACA352522986SETD2c.3171G>T (p.Trp1057Cys)
c.3204G>T (p.Trp1068Cys)
c.1183G>T
c.1244G>T
c.319G>T
c.1467G>T (p.Trp489Cys)
c.72-23252G>T (n.72-23252G>T)
c.3303G>T (p.Trp1101Cys)
c.2918G>T
c.2455G>T
c.2203G>T
c.3381G>T (p.Trp1127Cys)
c.3327G>T (p.Trp1109Cys)
n.3396G>T
n.3484G>T
n.3356G>T
n.3232G>T
n.3492G>T
 dbSNP
3g.47121333C>GCA352522988SETD2c.3171G>C (p.Trp1057Cys)
c.3204G>C (p.Trp1068Cys)
c.1183G>C
c.1244G>C
c.319G>C
c.1467G>C (p.Trp489Cys)
c.72-23252G>C (n.72-23252G>C)
c.3303G>C (p.Trp1101Cys)
c.2918G>C
c.2455G>C
c.2203G>C
c.3381G>C (p.Trp1127Cys)
c.3327G>C (p.Trp1109Cys)
n.3396G>C
n.3484G>C
n.3356G>C
n.3232G>C
n.3492G>C
 dbSNP
3g.47121333C>TCA352522990SETD2c.3171G>A (p.Trp1057Ter)
c.3204G>A (p.Trp1068Ter)
c.1183G>A
c.1244G>A
c.319G>A
c.1467G>A (p.Trp489Ter)
c.72-23252G>A (n.72-23252G>A)
c.3303G>A (p.Trp1101Ter)
c.2918G>A
c.2455G>A
c.2203G>A
c.3381G>A (p.Trp1127Ter)
c.3327G>A (p.Trp1109Ter)
n.3396G>A
n.3484G>A
n.3356G>A
n.3232G>A
n.3492G>A
 dbSNP
3g.47121334C>ACA352522993SETD2c.3170G>T (p.Trp1057Leu)
c.3203G>T (p.Trp1068Leu)
c.1182G>T
c.1243G>T
c.318G>T
c.1466G>T (p.Trp489Leu)
c.72-23253G>T (n.72-23253G>T)
c.3302G>T (p.Trp1101Leu)
c.2917G>T
c.2454G>T
c.2202G>T
c.3380G>T (p.Trp1127Leu)
c.3326G>T (p.Trp1109Leu)
n.3395G>T
n.3483G>T
n.3355G>T
n.3231G>T
n.3491G>T
3g.47121334C=CA1362408186SETD2c.3170G= (p.Trp1057=)
c.3203G= (p.Trp1068=)
c.1182G=
c.1243G=
c.318G=
c.1466G= (p.Trp489=)
c.72-23253G= (n.72-23253G=)
c.3302G= (p.Trp1101=)
c.2917G=
c.2454G=
c.2202G=
c.3380G= (p.Trp1127=)
c.3326G= (p.Trp1109=)
n.3395G=
n.3483G=
n.3355G=
n.3231G=
n.3491G=
3g.47121334C>GCA352522992SETD2c.3170G>C (p.Trp1057Ser)
c.3203G>C (p.Trp1068Ser)
c.1182G>C
c.1243G>C
c.318G>C
c.1466G>C (p.Trp489Ser)
c.72-23253G>C (n.72-23253G>C)
c.3302G>C (p.Trp1101Ser)
c.2917G>C
c.2454G>C
c.2202G>C
c.3380G>C (p.Trp1127Ser)
c.3326G>C (p.Trp1109Ser)
n.3395G>C
n.3483G>C
n.3355G>C
n.3231G>C
n.3491G>C
 dbSNP
3g.47121334C>TCA73809186SETD2c.3170G>A (p.Trp1057Ter)
c.3203G>A (p.Trp1068Ter)
c.1182G>A
c.1243G>A
c.318G>A
c.1466G>A (p.Trp489Ter)
c.72-23253G>A (n.72-23253G>A)
c.3302G>A (p.Trp1101Ter)
c.2917G>A
c.2454G>A
c.2202G>A
c.3380G>A (p.Trp1127Ter)
c.3326G>A (p.Trp1109Ter)
n.3395G>A
n.3483G>A
n.3355G>A
n.3231G>A
n.3491G>A
 dbSNP gnomAD v3 gnomAD v4
3g.47121335A>CCA352522994SETD2c.3169T>G (p.Trp1057Gly)
c.3202T>G (p.Trp1068Gly)
c.1181T>G
c.1242T>G
c.317T>G
c.1465T>G (p.Trp489Gly)
c.72-23254T>G (n.72-23254T>G)
c.3301T>G (p.Trp1101Gly)
c.2916T>G
c.2453T>G
c.2201T>G
c.3379T>G (p.Trp1127Gly)
c.3325T>G (p.Trp1109Gly)
n.3394T>G
n.3482T>G
n.3354T>G
n.3230T>G
n.3490T>G
 dbSNP
3g.47121335A>GCA352522995SETD2c.3169T>C (p.Trp1057Arg)
c.3202T>C (p.Trp1068Arg)
c.1181T>C
c.1242T>C
c.317T>C
c.1465T>C (p.Trp489Arg)
c.72-23254T>C (n.72-23254T>C)
c.3301T>C (p.Trp1101Arg)
c.2916T>C
c.2453T>C
c.2201T>C
c.3379T>C (p.Trp1127Arg)
c.3325T>C (p.Trp1109Arg)
n.3394T>C
n.3482T>C
n.3354T>C
n.3230T>C
n.3490T>C
3g.47121335A>TCA352522996SETD2c.3169T>A (p.Trp1057Arg)
c.3202T>A (p.Trp1068Arg)
c.1181T>A
c.1242T>A
c.317T>A
c.1465T>A (p.Trp489Arg)
c.72-23254T>A (n.72-23254T>A)
c.3301T>A (p.Trp1101Arg)
c.2916T>A
c.2453T>A
c.2201T>A
c.3379T>A (p.Trp1127Arg)
c.3325T>A (p.Trp1109Arg)
n.3394T>A
n.3482T>A
n.3354T>A
n.3230T>A
n.3490T>A
 dbSNP
3g.47121336A=CA1362408194SETD2c.3168T= (p.His1056=)
c.3201T= (p.His1067=)
c.1180T=
c.1241T=
c.316T=
c.1464T= (p.His488=)
c.72-23255T= (n.72-23255T=)
c.3300T= (p.His1100=)
c.2915T=
c.2452T=
c.2200T=
c.3378T= (p.His1126=)
c.3324T= (p.His1108=)
n.3393T=
n.3481T=
n.3353T=
n.3229T=
n.3489T=
3g.47121336A>CCA352522998SETD2c.3168T>G (p.His1056Gln)
c.3201T>G (p.His1067Gln)
c.1180T>G
c.1241T>G
c.316T>G
c.1464T>G (p.His488Gln)
c.72-23255T>G (n.72-23255T>G)
c.3300T>G (p.His1100Gln)
c.2915T>G
c.2452T>G
c.2200T>G
c.3378T>G (p.His1126Gln)
c.3324T>G (p.His1108Gln)
n.3393T>G
n.3481T>G
n.3353T>G
n.3229T>G
n.3489T>G
 dbSNP
3g.47121336A>GCA2363404SETD2c.3168T>C (p.His1056=)
c.3201T>C (p.His1067=)
c.1180T>C
c.1241T>C
c.316T>C
c.1464T>C (p.His488=)
c.72-23255T>C (n.72-23255T>C)
c.3300T>C (p.His1100=)
c.2915T>C
c.2452T>C
c.2200T>C
c.3378T>C (p.His1126=)
c.3324T>C (p.His1108=)
n.3393T>C
n.3481T>C
n.3353T>C
n.3229T>C
n.3489T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47121336A>TCA352522999SETD2c.3168T>A (p.His1056Gln)
c.3201T>A (p.His1067Gln)
c.1180T>A
c.1241T>A
c.316T>A
c.1464T>A (p.His488Gln)
c.72-23255T>A (n.72-23255T>A)
c.3300T>A (p.His1100Gln)
c.2915T>A
c.2452T>A
c.2200T>A
c.3378T>A (p.His1126Gln)
c.3324T>A (p.His1108Gln)
n.3393T>A
n.3481T>A
n.3353T>A
n.3229T>A
n.3489T>A
 dbSNP
3g.47121337T>ACA352523001SETD2c.3167A>T (p.His1056Leu)
c.3200A>T (p.His1067Leu)
c.1179A>T
c.1240A>T
c.315A>T
c.1463A>T (p.His488Leu)
c.72-23256A>T (n.72-23256A>T)
c.3299A>T (p.His1100Leu)
c.2914A>T
c.2451A>T
c.2199A>T
c.3377A>T (p.His1126Leu)
c.3323A>T (p.His1108Leu)
n.3392A>T
n.3480A>T
n.3352A>T
n.3228A>T
n.3488A>T
3g.47121337T>CCA352523004SETD2c.3167A>G (p.His1056Arg)
c.3200A>G (p.His1067Arg)
c.1179A>G
c.1240A>G
c.315A>G
c.1463A>G (p.His488Arg)
c.72-23256A>G (n.72-23256A>G)
c.3299A>G (p.His1100Arg)
c.2914A>G
c.2451A>G
c.2199A>G
c.3377A>G (p.His1126Arg)
c.3323A>G (p.His1108Arg)
n.3392A>G
n.3480A>G
n.3352A>G
n.3228A>G
n.3488A>G
 ClinVar gnomAD v4
3g.47121337T>GCA352523003SETD2c.3167A>C (p.His1056Pro)
c.3200A>C (p.His1067Pro)
c.1179A>C
c.1240A>C
c.315A>C
c.1463A>C (p.His488Pro)
c.72-23256A>C (n.72-23256A>C)
c.3299A>C (p.His1100Pro)
c.2914A>C
c.2451A>C
c.2199A>C
c.3377A>C (p.His1126Pro)
c.3323A>C (p.His1108Pro)
n.3392A>C
n.3480A>C
n.3352A>C
n.3228A>C
n.3488A>C
 gnomAD v4
3g.47121338G>ACA352523006SETD2c.3166C>T (p.His1056Tyr)
c.3199C>T (p.His1067Tyr)
c.1178C>T
c.1239C>T
c.314C>T
c.1462C>T (p.His488Tyr)
c.72-23257C>T (n.72-23257C>T)
c.3298C>T (p.His1100Tyr)
c.2913C>T
c.2450C>T
c.2198C>T
c.3376C>T (p.His1126Tyr)
c.3322C>T (p.His1108Tyr)
n.3391C>T
n.3479C>T
n.3351C>T
n.3227C>T
n.3487C>T
 dbSNP gnomAD v4
3g.47121338G>CCA352523007SETD2c.3166C>G (p.His1056Asp)
c.3199C>G (p.His1067Asp)
c.1178C>G
c.1239C>G
c.314C>G
c.1462C>G (p.His488Asp)
c.72-23257C>G (n.72-23257C>G)
c.3298C>G (p.His1100Asp)
c.2913C>G
c.2450C>G
c.2198C>G
c.3376C>G (p.His1126Asp)
c.3322C>G (p.His1108Asp)
n.3391C>G
n.3479C>G
n.3351C>G
n.3227C>G
n.3487C>G
 dbSNP
3g.47121338G>TCA352523009SETD2c.3166C>A (p.His1056Asn)
c.3199C>A (p.His1067Asn)
c.1178C>A
c.1239C>A
c.314C>A
c.1462C>A (p.His488Asn)
c.72-23257C>A (n.72-23257C>A)
c.3298C>A (p.His1100Asn)
c.2913C>A
c.2450C>A
c.2198C>A
c.3376C>A (p.His1126Asn)
c.3322C>A (p.His1108Asn)
n.3391C>A
n.3479C>A
n.3351C>A
n.3227C>A
n.3487C>A
 dbSNP
3g.47121339G>ACA433600914SETD2c.3165C>T (p.Asp1055=)
c.3198C>T (p.Asp1066=)
c.1177C>T
c.1238C>T
c.313C>T
c.1461C>T (p.Asp487=)
c.72-23258C>T (n.72-23258C>T)
c.3297C>T (p.Asp1099=)
c.2912C>T
c.2449C>T
c.2197C>T
c.3375C>T (p.Asp1125=)
c.3321C>T (p.Asp1107=)
n.3390C>T
n.3478C>T
n.3350C>T
n.3226C>T
n.3486C>T
 dbSNP gnomAD v4
3g.47121339G>CCA352523011SETD2c.3165C>G (p.Asp1055Glu)
c.3198C>G (p.Asp1066Glu)
c.1177C>G
c.1238C>G
c.313C>G
c.1461C>G (p.Asp487Glu)
c.72-23258C>G (n.72-23258C>G)
c.3297C>G (p.Asp1099Glu)
c.2912C>G
c.2449C>G
c.2197C>G
c.3375C>G (p.Asp1125Glu)
c.3321C>G (p.Asp1107Glu)
n.3390C>G
n.3478C>G
n.3350C>G
n.3226C>G
n.3486C>G
 dbSNP
3g.47121339G>TCA352523013SETD2c.3165C>A (p.Asp1055Glu)
c.3198C>A (p.Asp1066Glu)
c.1177C>A
c.1238C>A
c.313C>A
c.1461C>A (p.Asp487Glu)
c.72-23258C>A (n.72-23258C>A)
c.3297C>A (p.Asp1099Glu)
c.2912C>A
c.2449C>A
c.2197C>A
c.3375C>A (p.Asp1125Glu)
c.3321C>A (p.Asp1107Glu)
n.3390C>A
n.3478C>A
n.3350C>A
n.3226C>A
n.3486C>A
 dbSNP
3g.47121340T>ACA352523015SETD2c.3164A>T (p.Asp1055Val)
c.3197A>T (p.Asp1066Val)
c.1176A>T
c.1237A>T
c.312A>T
c.1460A>T (p.Asp487Val)
c.72-23259A>T (n.72-23259A>T)
c.3296A>T (p.Asp1099Val)
c.2911A>T
c.2448A>T
c.2196A>T
c.3374A>T (p.Asp1125Val)
c.3320A>T (p.Asp1107Val)
n.3389A>T
n.3477A>T
n.3349A>T
n.3225A>T
n.3485A>T
 dbSNP
3g.47121340T>CCA352523017SETD2c.3164A>G (p.Asp1055Gly)
c.3197A>G (p.Asp1066Gly)
c.1176A>G
c.1237A>G
c.312A>G
c.1460A>G (p.Asp487Gly)
c.72-23259A>G (n.72-23259A>G)
c.3296A>G (p.Asp1099Gly)
c.2911A>G
c.2448A>G
c.2196A>G
c.3374A>G (p.Asp1125Gly)
c.3320A>G (p.Asp1107Gly)
n.3389A>G
n.3477A>G
n.3349A>G
n.3225A>G
n.3485A>G
 dbSNP
3g.47121340T>GCA352523019SETD2c.3164A>C (p.Asp1055Ala)
c.3197A>C (p.Asp1066Ala)
c.1176A>C
c.1237A>C
c.312A>C
c.1460A>C (p.Asp487Ala)
c.72-23259A>C (n.72-23259A>C)
c.3296A>C (p.Asp1099Ala)
c.2911A>C
c.2448A>C
c.2196A>C
c.3374A>C (p.Asp1125Ala)
c.3320A>C (p.Asp1107Ala)
n.3389A>C
n.3477A>C
n.3349A>C
n.3225A>C
n.3485A>C
 dbSNP
3g.47121341C>ACA352523020SETD2c.3163G>T (p.Asp1055Tyr)
c.3196G>T (p.Asp1066Tyr)
c.1175G>T
c.1236G>T
c.311G>T
c.1459G>T (p.Asp487Tyr)
c.72-23260G>T (n.72-23260G>T)
c.3295G>T (p.Asp1099Tyr)
c.2910G>T
c.2447G>T
c.2195G>T
c.3373G>T (p.Asp1125Tyr)
c.3319G>T (p.Asp1107Tyr)
n.3388G>T
n.3476G>T
n.3348G>T
n.3224G>T
n.3484G>T
 dbSNP
3g.47121341C>GCA352523022SETD2c.3163G>C (p.Asp1055His)
c.3196G>C (p.Asp1066His)
c.1175G>C
c.1236G>C
c.311G>C
c.1459G>C (p.Asp487His)
c.72-23260G>C (n.72-23260G>C)
c.3295G>C (p.Asp1099His)
c.2910G>C
c.2447G>C
c.2195G>C
c.3373G>C (p.Asp1125His)
c.3319G>C (p.Asp1107His)
n.3388G>C
n.3476G>C
n.3348G>C
n.3224G>C
n.3484G>C
 dbSNP
3g.47121341C>TCA352523023SETD2c.3163G>A (p.Asp1055Asn)
c.3196G>A (p.Asp1066Asn)
c.1175G>A
c.1236G>A
c.311G>A
c.1459G>A (p.Asp487Asn)
c.72-23260G>A (n.72-23260G>A)
c.3295G>A (p.Asp1099Asn)
c.2910G>A
c.2447G>A
c.2195G>A
c.3373G>A (p.Asp1125Asn)
c.3319G>A (p.Asp1107Asn)
n.3388G>A
n.3476G>A
n.3348G>A
n.3224G>A
n.3484G>A
 dbSNP
3g.47121342A>CCA433600930SETD2c.3162T>G (p.Ser1054=)
c.3195T>G (p.Ser1065=)
c.1174T>G
c.1235T>G
c.310T>G
c.1458T>G (p.Ser486=)
c.72-23261T>G (n.72-23261T>G)
c.3294T>G (p.Ser1098=)
c.2909T>G
c.2446T>G
c.2194T>G
c.3372T>G (p.Ser1124=)
c.3318T>G (p.Ser1106=)
n.3387T>G
n.3475T>G
n.3347T>G
n.3223T>G
n.3483T>G
3g.47121342A>GCA433600937SETD2c.3162T>C (p.Ser1054=)
c.3195T>C (p.Ser1065=)
c.1174T>C
c.1235T>C
c.310T>C
c.1458T>C (p.Ser486=)
c.72-23261T>C (n.72-23261T>C)
c.3294T>C (p.Ser1098=)
c.2909T>C
c.2446T>C
c.2194T>C
c.3372T>C (p.Ser1124=)
c.3318T>C (p.Ser1106=)
n.3387T>C
n.3475T>C
n.3347T>C
n.3223T>C
n.3483T>C
 dbSNP gnomAD v4
3g.47121342A>TCA433600934SETD2c.3162T>A (p.Ser1054=)
c.3195T>A (p.Ser1065=)
c.1174T>A
c.1235T>A
c.310T>A
c.1458T>A (p.Ser486=)
c.72-23261T>A (n.72-23261T>A)
c.3294T>A (p.Ser1098=)
c.2909T>A
c.2446T>A
c.2194T>A
c.3372T>A (p.Ser1124=)
c.3318T>A (p.Ser1106=)
n.3387T>A
n.3475T>A
n.3347T>A
n.3223T>A
n.3483T>A
 dbSNP
3g.47121343G>ACA352523027SETD2c.3161C>T (p.Ser1054Phe)
c.3194C>T (p.Ser1065Phe)
c.1173C>T
c.1234C>T
c.309C>T
c.1457C>T (p.Ser486Phe)
c.72-23262C>T (n.72-23262C>T)
c.3293C>T (p.Ser1098Phe)
c.2908C>T
c.2445C>T
c.2193C>T
c.3371C>T (p.Ser1124Phe)
c.3317C>T (p.Ser1106Phe)
n.3386C>T
n.3474C>T
n.3346C>T
n.3222C>T
n.3482C>T
 dbSNP
3g.47121343G>CCA352523028SETD2c.3161C>G (p.Ser1054Cys)
c.3194C>G (p.Ser1065Cys)
c.1173C>G
c.1234C>G
c.309C>G
c.1457C>G (p.Ser486Cys)
c.72-23262C>G (n.72-23262C>G)
c.3293C>G (p.Ser1098Cys)
c.2908C>G
c.2445C>G
c.2193C>G
c.3371C>G (p.Ser1124Cys)
c.3317C>G (p.Ser1106Cys)
n.3386C>G
n.3474C>G
n.3346C>G
n.3222C>G
n.3482C>G
 dbSNP
3g.47121343G>TCA352523025SETD2c.3161C>A (p.Ser1054Tyr)
c.3194C>A (p.Ser1065Tyr)
c.1173C>A
c.1234C>A
c.309C>A
c.1457C>A (p.Ser486Tyr)
c.72-23262C>A (n.72-23262C>A)
c.3293C>A (p.Ser1098Tyr)
c.2908C>A
c.2445C>A
c.2193C>A
c.3371C>A (p.Ser1124Tyr)
c.3317C>A (p.Ser1106Tyr)
n.3386C>A
n.3474C>A
n.3346C>A
n.3222C>A
n.3482C>A
3g.47121344A>CCA352523030SETD2c.3160T>G (p.Ser1054Ala)
c.3193T>G (p.Ser1065Ala)
c.1172T>G
c.1233T>G
c.308T>G
c.1456T>G (p.Ser486Ala)
c.72-23263T>G (n.72-23263T>G)
c.3292T>G (p.Ser1098Ala)
c.2907T>G
c.2444T>G
c.2192T>G
c.3370T>G (p.Ser1124Ala)
c.3316T>G (p.Ser1106Ala)
n.3385T>G
n.3473T>G
n.3345T>G
n.3221T>G
n.3481T>G
3g.47121344A>GCA352523033SETD2c.3160T>C (p.Ser1054Pro)
c.3193T>C (p.Ser1065Pro)
c.1172T>C
c.1233T>C
c.308T>C
c.1456T>C (p.Ser486Pro)
c.72-23263T>C (n.72-23263T>C)
c.3292T>C (p.Ser1098Pro)
c.2907T>C
c.2444T>C
c.2192T>C
c.3370T>C (p.Ser1124Pro)
c.3316T>C (p.Ser1106Pro)
n.3385T>C
n.3473T>C
n.3345T>C
n.3221T>C
n.3481T>C
 dbSNP gnomAD v4
3g.47121344A>TCA352523032SETD2c.3160T>A (p.Ser1054Thr)
c.3193T>A (p.Ser1065Thr)
c.1172T>A
c.1233T>A
c.308T>A
c.1456T>A (p.Ser486Thr)
c.72-23263T>A (n.72-23263T>A)
c.3292T>A (p.Ser1098Thr)
c.2907T>A
c.2444T>A
c.2192T>A
c.3370T>A (p.Ser1124Thr)
c.3316T>A (p.Ser1106Thr)
n.3385T>A
n.3473T>A
n.3345T>A
n.3221T>A
n.3481T>A
 dbSNP
3g.47121345A=CA1362408203SETD2c.3159T= (p.Tyr1053=)
c.3192T= (p.Tyr1064=)
c.1171T=
c.1232T=
c.307T=
c.1455T= (p.Tyr485=)
c.72-23264T= (n.72-23264T=)
c.3291T= (p.Tyr1097=)
c.2906T=
c.2443T=
c.2191T=
c.3369T= (p.Tyr1123=)
c.3315T= (p.Tyr1105=)
n.3384T=
n.3472T=
n.3344T=
n.3220T=
n.3480T=
3g.47121345A>CCA352523035SETD2c.3159T>G (p.Tyr1053Ter)
c.3192T>G (p.Tyr1064Ter)
c.1171T>G
c.1232T>G
c.307T>G
c.1455T>G (p.Tyr485Ter)
c.72-23264T>G (n.72-23264T>G)
c.3291T>G (p.Tyr1097Ter)
c.2906T>G
c.2443T>G
c.2191T>G
c.3369T>G (p.Tyr1123Ter)
c.3315T>G (p.Tyr1105Ter)
n.3384T>G
n.3472T>G
n.3344T>G
n.3220T>G
n.3480T>G
 dbSNP
3g.47121345A>GCA2363405SETD2c.3159T>C (p.Tyr1053=)
c.3192T>C (p.Tyr1064=)
c.1171T>C
c.1232T>C
c.307T>C
c.1455T>C (p.Tyr485=)
c.72-23264T>C (n.72-23264T>C)
c.3291T>C (p.Tyr1097=)
c.2906T>C
c.2443T>C
c.2191T>C
c.3369T>C (p.Tyr1123=)
c.3315T>C (p.Tyr1105=)
n.3384T>C
n.3472T>C
n.3344T>C
n.3220T>C
n.3480T>C
 dbSNP ExAC gnomAD v4
3g.47121345A>TCA352523037SETD2c.3159T>A (p.Tyr1053Ter)
c.3192T>A (p.Tyr1064Ter)
c.1171T>A
c.1232T>A
c.307T>A
c.1455T>A (p.Tyr485Ter)
c.72-23264T>A (n.72-23264T>A)
c.3291T>A (p.Tyr1097Ter)
c.2906T>A
c.2443T>A
c.2191T>A
c.3369T>A (p.Tyr1123Ter)
c.3315T>A (p.Tyr1105Ter)
n.3384T>A
n.3472T>A
n.3344T>A
n.3220T>A
n.3480T>A
 dbSNP
3g.47121346T>ACA352523039SETD2c.3158A>T (p.Tyr1053Phe)
c.3191A>T (p.Tyr1064Phe)
c.1170A>T
c.1231A>T
c.306A>T
c.1454A>T (p.Tyr485Phe)
c.72-23265A>T (n.72-23265A>T)
c.3290A>T (p.Tyr1097Phe)
c.2905A>T
c.2442A>T
c.2190A>T
c.3368A>T (p.Tyr1123Phe)
c.3314A>T (p.Tyr1105Phe)
n.3383A>T
n.3471A>T
n.3343A>T
n.3219A>T
n.3479A>T
 dbSNP
3g.47121346T>CCA2363406SETD2c.3158A>G (p.Tyr1053Cys)
c.3191A>G (p.Tyr1064Cys)
c.1170A>G
c.1231A>G
c.306A>G
c.1454A>G (p.Tyr485Cys)
c.72-23265A>G (n.72-23265A>G)
c.3290A>G (p.Tyr1097Cys)
c.2905A>G
c.2442A>G
c.2190A>G
c.3368A>G (p.Tyr1123Cys)
c.3314A>G (p.Tyr1105Cys)
n.3383A>G
n.3471A>G
n.3343A>G
n.3219A>G
n.3479A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47121346T>GCA352523041SETD2c.3158A>C (p.Tyr1053Ser)
c.3191A>C (p.Tyr1064Ser)
c.1170A>C
c.1231A>C
c.306A>C
c.1454A>C (p.Tyr485Ser)
c.72-23265A>C (n.72-23265A>C)
c.3290A>C (p.Tyr1097Ser)
c.2905A>C
c.2442A>C
c.2190A>C
c.3368A>C (p.Tyr1123Ser)
c.3314A>C (p.Tyr1105Ser)
n.3383A>C
n.3471A>C
n.3343A>C
n.3219A>C
n.3479A>C
 dbSNP
3g.47121346T=CA1362408210SETD2c.3158A= (p.Tyr1053=)
c.3191A= (p.Tyr1064=)
c.1170A=
c.1231A=
c.306A=
c.1454A= (p.Tyr485=)
c.72-23265A= (n.72-23265A=)
c.3290A= (p.Tyr1097=)
c.2905A=
c.2442A=
c.2190A=
c.3368A= (p.Tyr1123=)
c.3314A= (p.Tyr1105=)
n.3383A=
n.3471A=
n.3343A=
n.3219A=
n.3479A=
3g.47121347A=CA1362408212SETD2c.3157T= (p.Tyr1053=)
c.3190T= (p.Tyr1064=)
c.1169T=
c.1230T=
c.305T=
c.1453T= (p.Tyr485=)
c.72-23266T= (n.72-23266T=)
c.3289T= (p.Tyr1097=)
c.2904T=
c.2441T=
c.2189T=
c.3367T= (p.Tyr1123=)
c.3313T= (p.Tyr1105=)
n.3382T=
n.3470T=
n.3342T=
n.3218T=
n.3478T=
3g.47121347A>CCA352523043SETD2c.3157T>G (p.Tyr1053Asp)
c.3190T>G (p.Tyr1064Asp)
c.1169T>G
c.1230T>G
c.305T>G
c.1453T>G (p.Tyr485Asp)
c.72-23266T>G (n.72-23266T>G)
c.3289T>G (p.Tyr1097Asp)
c.2904T>G
c.2441T>G
c.2189T>G
c.3367T>G (p.Tyr1123Asp)
c.3313T>G (p.Tyr1105Asp)
n.3382T>G
n.3470T>G
n.3342T>G
n.3218T>G
n.3478T>G
3g.47121347A>GCA2363407SETD2c.3157T>C (p.Tyr1053His)
c.3190T>C (p.Tyr1064His)
c.1169T>C
c.1230T>C
c.305T>C
c.1453T>C (p.Tyr485His)
c.72-23266T>C (n.72-23266T>C)
c.3289T>C (p.Tyr1097His)
c.2904T>C
c.2441T>C
c.2189T>C
c.3367T>C (p.Tyr1123His)
c.3313T>C (p.Tyr1105His)
n.3382T>C
n.3470T>C
n.3342T>C
n.3218T>C
n.3478T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47121347A>TCA352523045SETD2c.3157T>A (p.Tyr1053Asn)
c.3190T>A (p.Tyr1064Asn)
c.1169T>A
c.1230T>A
c.305T>A
c.1453T>A (p.Tyr485Asn)
c.72-23266T>A (n.72-23266T>A)
c.3289T>A (p.Tyr1097Asn)
c.2904T>A
c.2441T>A
c.2189T>A
c.3367T>A (p.Tyr1123Asn)
c.3313T>A (p.Tyr1105Asn)
n.3382T>A
n.3470T>A
n.3342T>A
n.3218T>A
n.3478T>A
 dbSNP
3g.47121348G>ACA433600980SETD2c.3156C>T (p.His1052=)
c.3189C>T (p.His1063=)
c.1168C>T
c.1229C>T
c.304C>T
c.1452C>T (p.His484=)
c.72-23267C>T (n.72-23267C>T)
c.3288C>T (p.His1096=)
c.2903C>T
c.2440C>T
c.2188C>T
c.3366C>T (p.His1122=)
c.3312C>T (p.His1104=)
n.3381C>T
n.3469C>T
n.3341C>T
n.3217C>T
n.3477C>T
 dbSNP gnomAD v3 gnomAD v4
3g.47121348G>CCA352523047SETD2c.3156C>G (p.His1052Gln)
c.3189C>G (p.His1063Gln)
c.1168C>G
c.1229C>G
c.304C>G
c.1452C>G (p.His484Gln)
c.72-23267C>G (n.72-23267C>G)
c.3288C>G (p.His1096Gln)
c.2903C>G
c.2440C>G
c.2188C>G
c.3366C>G (p.His1122Gln)
c.3312C>G (p.His1104Gln)
n.3381C>G
n.3469C>G
n.3341C>G
n.3217C>G
n.3477C>G
 gnomAD v4
3g.47121348G=CA1362408214SETD2c.3156C= (p.His1052=)
c.3189C= (p.His1063=)
c.1168C=
c.1229C=
c.304C=
c.1452C= (p.His484=)
c.72-23267C= (n.72-23267C=)
c.3288C= (p.His1096=)
c.2903C=
c.2440C=
c.2188C=
c.3366C= (p.His1122=)
c.3312C= (p.His1104=)
n.3381C=
n.3469C=
n.3341C=
n.3217C=
n.3477C=
3g.47121348G>TCA352523049SETD2c.3156C>A (p.His1052Gln)
c.3189C>A (p.His1063Gln)
c.1168C>A
c.1229C>A
c.304C>A
c.1452C>A (p.His484Gln)
c.72-23267C>A (n.72-23267C>A)
c.3288C>A (p.His1096Gln)
c.2903C>A
c.2440C>A
c.2188C>A
c.3366C>A (p.His1122Gln)
c.3312C>A (p.His1104Gln)
n.3381C>A
n.3469C>A
n.3341C>A
n.3217C>A
n.3477C>A
 dbSNP
3g.47121349T>ACA352523051SETD2c.3155A>T (p.His1052Leu)
c.3188A>T (p.His1063Leu)
c.1167A>T
c.1228A>T
c.303A>T
c.1451A>T (p.His484Leu)
c.72-23268A>T (n.72-23268A>T)
c.3287A>T (p.His1096Leu)
c.2902A>T
c.2439A>T
c.2187A>T
c.3365A>T (p.His1122Leu)
c.3311A>T (p.His1104Leu)
n.3380A>T
n.3468A>T
n.3340A>T
n.3216A>T
n.3476A>T
 dbSNP
3g.47121349T>CCA352523052SETD2c.3155A>G (p.His1052Arg)
c.3188A>G (p.His1063Arg)
c.1167A>G
c.1228A>G
c.303A>G
c.1451A>G (p.His484Arg)
c.72-23268A>G (n.72-23268A>G)
c.3287A>G (p.His1096Arg)
c.2902A>G
c.2439A>G
c.2187A>G
c.3365A>G (p.His1122Arg)
c.3311A>G (p.His1104Arg)
n.3380A>G
n.3468A>G
n.3340A>G
n.3216A>G
n.3476A>G
 ClinVar dbSNP gnomAD v4
3g.47121349T>GCA352523053SETD2c.3155A>C (p.His1052Pro)
c.3188A>C (p.His1063Pro)
c.1167A>C
c.1228A>C
c.303A>C
c.1451A>C (p.His484Pro)
c.72-23268A>C (n.72-23268A>C)
c.3287A>C (p.His1096Pro)
c.2902A>C
c.2439A>C
c.2187A>C
c.3365A>C (p.His1122Pro)
c.3311A>C (p.His1104Pro)
n.3380A>C
n.3468A>C
n.3340A>C
n.3216A>C
n.3476A>C
3g.47121349T=CA1362408217SETD2c.3155A= (p.His1052=)
c.3188A= (p.His1063=)
c.1167A=
c.1228A=
c.303A=
c.1451A= (p.His484=)
c.72-23268A= (n.72-23268A=)
c.3287A= (p.His1096=)
c.2902A=
c.2439A=
c.2187A=
c.3365A= (p.His1122=)
c.3311A= (p.His1104=)
n.3380A=
n.3468A=
n.3340A=
n.3216A=
n.3476A=
3g.47121349_47121350insACA2527684722SETD2c.3154_3155insT (p.His1052LeufsTer4)
c.3187_3188insT (p.His1063LeufsTer4)
c.1166_1167insT
c.1227_1228insT
c.302_303insT
c.1450_1451insT (p.His484LeufsTer4)
c.72-23269_72-23268insT (n.72-23269_72-23268insT)
c.3286_3287insT (p.His1096LeufsTer4)
c.2901_2902insT
c.2438_2439insT
c.2186_2187insT
c.3364_3365insT (p.His1122LeufsTer4)
c.3310_3311insT (p.His1104LeufsTer4)
n.3379_3380insT
n.3467_3468insT
n.3339_3340insT
n.3215_3216insT
n.3475_3476insT
3g.47121350G>ACA352523059SETD2c.3154C>T (p.His1052Tyr)
c.3187C>T (p.His1063Tyr)
c.1166C>T
c.1227C>T
c.302C>T
c.1450C>T (p.His484Tyr)
c.72-23269C>T (n.72-23269C>T)
c.3286C>T (p.His1096Tyr)
c.2901C>T
c.2438C>T
c.2186C>T
c.3364C>T (p.His1122Tyr)
c.3310C>T (p.His1104Tyr)
n.3379C>T
n.3467C>T
n.3339C>T
n.3215C>T
n.3475C>T
 dbSNP
3g.47121350G>CCA352523055SETD2c.3154C>G (p.His1052Asp)
c.3187C>G (p.His1063Asp)
c.1166C>G
c.1227C>G
c.302C>G
c.1450C>G (p.His484Asp)
c.72-23269C>G (n.72-23269C>G)
c.3286C>G (p.His1096Asp)
c.2901C>G
c.2438C>G
c.2186C>G
c.3364C>G (p.His1122Asp)
c.3310C>G (p.His1104Asp)
n.3379C>G
n.3467C>G
n.3339C>G
n.3215C>G
n.3475C>G
 dbSNP
3g.47121350G>TCA352523057SETD2c.3154C>A (p.His1052Asn)
c.3187C>A (p.His1063Asn)
c.1166C>A
c.1227C>A
c.302C>A
c.1450C>A (p.His484Asn)
c.72-23269C>A (n.72-23269C>A)
c.3286C>A (p.His1096Asn)
c.2901C>A
c.2438C>A
c.2186C>A
c.3364C>A (p.His1122Asn)
c.3310C>A (p.His1104Asn)
n.3379C>A
n.3467C>A
n.3339C>A
n.3215C>A
n.3475C>A
 dbSNP
3g.47121351T>ACA352523060SETD2c.3153A>T (p.Arg1051Ser)
c.3186A>T (p.Arg1062Ser)
c.1165A>T
c.1226A>T
c.301A>T
c.1449A>T (p.Arg483Ser)
c.72-23270A>T (n.72-23270A>T)
c.3285A>T (p.Arg1095Ser)
c.2900A>T
c.2437A>T
c.2185A>T
c.3363A>T (p.Arg1121Ser)
c.3309A>T (p.Arg1103Ser)
n.3378A>T
n.3466A>T
n.3338A>T
n.3214A>T
n.3474A>T
 dbSNP
3g.47121351T>CCA433601005SETD2c.3153A>G (p.Arg1051=)
c.3186A>G (p.Arg1062=)
c.1165A>G
c.1226A>G
c.301A>G
c.1449A>G (p.Arg483=)
c.72-23270A>G (n.72-23270A>G)
c.3285A>G (p.Arg1095=)
c.2900A>G
c.2437A>G
c.2185A>G
c.3363A>G (p.Arg1121=)
c.3309A>G (p.Arg1103=)
n.3378A>G
n.3466A>G
n.3338A>G
n.3214A>G
n.3474A>G
 dbSNP gnomAD v4
3g.47121351T>GCA352523062SETD2c.3153A>C (p.Arg1051Ser)
c.3186A>C (p.Arg1062Ser)
c.1165A>C
c.1226A>C
c.301A>C
c.1449A>C (p.Arg483Ser)
c.72-23270A>C (n.72-23270A>C)
c.3285A>C (p.Arg1095Ser)
c.2900A>C
c.2437A>C
c.2185A>C
c.3363A>C (p.Arg1121Ser)
c.3309A>C (p.Arg1103Ser)
n.3378A>C
n.3466A>C
n.3338A>C
n.3214A>C
n.3474A>C
 dbSNP
3g.47121351T=CA1362408223SETD2c.3153A= (p.Arg1051=)
c.3186A= (p.Arg1062=)
c.1165A=
c.1226A=
c.301A=
c.1449A= (p.Arg483=)
c.72-23270A= (n.72-23270A=)
c.3285A= (p.Arg1095=)
c.2900A=
c.2437A=
c.2185A=
c.3363A= (p.Arg1121=)
c.3309A= (p.Arg1103=)
n.3378A=
n.3466A=
n.3338A=
n.3214A=
n.3474A=
3g.47121352C>ACA352523064SETD2c.3152G>T (p.Arg1051Ile)
c.3185G>T (p.Arg1062Ile)
c.1164G>T
c.1225G>T
c.300G>T
c.1448G>T (p.Arg483Ile)
c.72-23271G>T (n.72-23271G>T)
c.3284G>T (p.Arg1095Ile)
c.2899G>T
c.2436G>T
c.2184G>T
c.3362G>T (p.Arg1121Ile)
c.3308G>T (p.Arg1103Ile)
n.3377G>T
n.3465G>T
n.3337G>T
n.3213G>T
n.3473G>T
 dbSNP
3g.47121352C>GCA352523065SETD2c.3152G>C (p.Arg1051Thr)
c.3185G>C (p.Arg1062Thr)
c.1164G>C
c.1225G>C
c.300G>C
c.1448G>C (p.Arg483Thr)
c.72-23271G>C (n.72-23271G>C)
c.3284G>C (p.Arg1095Thr)
c.2899G>C
c.2436G>C
c.2184G>C
c.3362G>C (p.Arg1121Thr)
c.3308G>C (p.Arg1103Thr)
n.3377G>C
n.3465G>C
n.3337G>C
n.3213G>C
n.3473G>C
 dbSNP
3g.47121352C>TCA352523066SETD2c.3152G>A (p.Arg1051Lys)
c.3185G>A (p.Arg1062Lys)
c.1164G>A
c.1225G>A
c.300G>A
c.1448G>A (p.Arg483Lys)
c.72-23271G>A (n.72-23271G>A)
c.3284G>A (p.Arg1095Lys)
c.2899G>A
c.2436G>A
c.2184G>A
c.3362G>A (p.Arg1121Lys)
c.3308G>A (p.Arg1103Lys)
n.3377G>A
n.3465G>A
n.3337G>A
n.3213G>A
n.3473G>A
 dbSNP
3g.47121353T>ACA352523068SETD2c.3151A>T (p.Arg1051Ter)
c.3184A>T (p.Arg1062Ter)
c.1163A>T
c.1224A>T
c.299A>T
c.1447A>T (p.Arg483Ter)
c.72-23272A>T (n.72-23272A>T)
c.3283A>T (p.Arg1095Ter)
c.2898A>T
c.2435A>T
c.2183A>T
c.3361A>T (p.Arg1121Ter)
c.3307A>T (p.Arg1103Ter)
n.3376A>T
n.3464A>T
n.3336A>T
n.3212A>T
n.3472A>T
 dbSNP
3g.47121353T>CCA352523070SETD2c.3151A>G (p.Arg1051Gly)
c.3184A>G (p.Arg1062Gly)
c.1163A>G
c.1224A>G
c.299A>G
c.1447A>G (p.Arg483Gly)
c.72-23272A>G (n.72-23272A>G)
c.3283A>G (p.Arg1095Gly)
c.2898A>G
c.2435A>G
c.2183A>G
c.3361A>G (p.Arg1121Gly)
c.3307A>G (p.Arg1103Gly)
n.3376A>G
n.3464A>G
n.3336A>G
n.3212A>G
n.3472A>G
 dbSNP
3g.47121353T>GCA433601018SETD2c.3151A>C (p.Arg1051=)
c.3184A>C (p.Arg1062=)
c.1163A>C
c.1224A>C
c.299A>C
c.1447A>C (p.Arg483=)
c.72-23272A>C (n.72-23272A>C)
c.3283A>C (p.Arg1095=)
c.2898A>C
c.2435A>C
c.2183A>C
c.3361A>C (p.Arg1121=)
c.3307A>C (p.Arg1103=)
n.3376A>C
n.3464A>C
n.3336A>C
n.3212A>C
n.3472A>C
3g.47121354A=CA1362408233SETD2c.3150T= (p.Tyr1050=)
c.3183T= (p.Tyr1061=)
c.1162T=
c.1223T=
c.298T=
c.1446T= (p.Tyr482=)
c.72-23273T= (n.72-23273T=)
c.3282T= (p.Tyr1094=)
c.2897T=
c.2434T=
c.2182T=
c.3360T= (p.Tyr1120=)
c.3306T= (p.Tyr1102=)
n.3375T=
n.3463T=
n.3335T=
n.3211T=
n.3471T=
3g.47121354A>CCA352523072SETD2c.3150T>G (p.Tyr1050Ter)
c.3183T>G (p.Tyr1061Ter)
c.1162T>G
c.1223T>G
c.298T>G
c.1446T>G (p.Tyr482Ter)
c.72-23273T>G (n.72-23273T>G)
c.3282T>G (p.Tyr1094Ter)
c.2897T>G
c.2434T>G
c.2182T>G
c.3360T>G (p.Tyr1120Ter)
c.3306T>G (p.Tyr1102Ter)
n.3375T>G
n.3463T>G
n.3335T>G
n.3211T>G
n.3471T>G
 dbSNP
3g.47121354A>GCA2363408SETD2c.3150T>C (p.Tyr1050=)
c.3183T>C (p.Tyr1061=)
c.1162T>C
c.1223T>C
c.298T>C
c.1446T>C (p.Tyr482=)
c.72-23273T>C (n.72-23273T>C)
c.3282T>C (p.Tyr1094=)
c.2897T>C
c.2434T>C
c.2182T>C
c.3360T>C (p.Tyr1120=)
c.3306T>C (p.Tyr1102=)
n.3375T>C
n.3463T>C
n.3335T>C
n.3211T>C
n.3471T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47121354A>TCA352523074SETD2c.3150T>A (p.Tyr1050Ter)
c.3183T>A (p.Tyr1061Ter)
c.1162T>A
c.1223T>A
c.298T>A
c.1446T>A (p.Tyr482Ter)
c.72-23273T>A (n.72-23273T>A)
c.3282T>A (p.Tyr1094Ter)
c.2897T>A
c.2434T>A
c.2182T>A
c.3360T>A (p.Tyr1120Ter)
c.3306T>A (p.Tyr1102Ter)
n.3375T>A
n.3463T>A
n.3335T>A
n.3211T>A
n.3471T>A
 dbSNP
3g.47121355T>ACA352523078SETD2c.3149A>T (p.Tyr1050Phe)
c.3182A>T (p.Tyr1061Phe)
c.1161A>T
c.1222A>T
c.297A>T
c.1445A>T (p.Tyr482Phe)
c.72-23274A>T (n.72-23274A>T)
c.3281A>T (p.Tyr1094Phe)
c.2896A>T
c.2433A>T
c.2181A>T
c.3359A>T (p.Tyr1120Phe)
c.3305A>T (p.Tyr1102Phe)
n.3374A>T
n.3462A>T
n.3334A>T
n.3210A>T
n.3470A>T
3g.47121355T>CCA73809235SETD2c.3149A>G (p.Tyr1050Cys)
c.3182A>G (p.Tyr1061Cys)
c.1161A>G
c.1222A>G
c.297A>G
c.1445A>G (p.Tyr482Cys)
c.72-23274A>G (n.72-23274A>G)
c.3281A>G (p.Tyr1094Cys)
c.2896A>G
c.2433A>G
c.2181A>G
c.3359A>G (p.Tyr1120Cys)
c.3305A>G (p.Tyr1102Cys)
n.3374A>G
n.3462A>G
n.3334A>G
n.3210A>G
n.3470A>G
 dbSNP gnomAD v2 gnomAD v4
3g.47121355T>GCA352523076SETD2c.3149A>C (p.Tyr1050Ser)
c.3182A>C (p.Tyr1061Ser)
c.1161A>C
c.1222A>C
c.297A>C
c.1445A>C (p.Tyr482Ser)
c.72-23274A>C (n.72-23274A>C)
c.3281A>C (p.Tyr1094Ser)
c.2896A>C
c.2433A>C
c.2181A>C
c.3359A>C (p.Tyr1120Ser)
c.3305A>C (p.Tyr1102Ser)
n.3374A>C
n.3462A>C
n.3334A>C
n.3210A>C
n.3470A>C
3g.47121355T=CA1362408240SETD2c.3149A= (p.Tyr1050=)
c.3182A= (p.Tyr1061=)
c.1161A=
c.1222A=
c.297A=
c.1445A= (p.Tyr482=)
c.72-23274A= (n.72-23274A=)
c.3281A= (p.Tyr1094=)
c.2896A=
c.2433A=
c.2181A=
c.3359A= (p.Tyr1120=)
c.3305A= (p.Tyr1102=)
n.3374A=
n.3462A=
n.3334A=
n.3210A=
n.3470A=
3g.47121356A>CCA352523079SETD2c.3148T>G (p.Tyr1050Asp)
c.3181T>G (p.Tyr1061Asp)
c.1160T>G
c.1221T>G
c.296T>G
c.1444T>G (p.Tyr482Asp)
c.72-23275T>G (n.72-23275T>G)
c.3280T>G (p.Tyr1094Asp)
c.2895T>G
c.2432T>G
c.2180T>G
c.3358T>G (p.Tyr1120Asp)
c.3304T>G (p.Tyr1102Asp)
n.3373T>G
n.3461T>G
n.3333T>G
n.3209T>G
n.3469T>G
 dbSNP
3g.47121356A>GCA352523081SETD2c.3148T>C (p.Tyr1050His)
c.3181T>C (p.Tyr1061His)
c.1160T>C
c.1221T>C
c.296T>C
c.1444T>C (p.Tyr482His)
c.72-23275T>C (n.72-23275T>C)
c.3280T>C (p.Tyr1094His)
c.2895T>C
c.2432T>C
c.2180T>C
c.3358T>C (p.Tyr1120His)
c.3304T>C (p.Tyr1102His)
n.3373T>C
n.3461T>C
n.3333T>C
n.3209T>C
n.3469T>C
3g.47121356A>TCA352523082SETD2c.3148T>A (p.Tyr1050Asn)
c.3181T>A (p.Tyr1061Asn)
c.1160T>A
c.1221T>A
c.296T>A
c.1444T>A (p.Tyr482Asn)
c.72-23275T>A (n.72-23275T>A)
c.3280T>A (p.Tyr1094Asn)
c.2895T>A
c.2432T>A
c.2180T>A
c.3358T>A (p.Tyr1120Asn)
c.3304T>A (p.Tyr1102Asn)
n.3373T>A
n.3461T>A
n.3333T>A
n.3209T>A
n.3469T>A
 dbSNP
3g.47121357A>CCA352523083SETD2c.3147T>G (p.Ser1049Arg)
c.3180T>G (p.Ser1060Arg)
c.1159T>G
c.1220T>G
c.295T>G
c.1443T>G (p.Ser481Arg)
c.72-23276T>G (n.72-23276T>G)
c.3279T>G (p.Ser1093Arg)
c.2894T>G
c.2431T>G
c.2179T>G
c.3357T>G (p.Ser1119Arg)
c.3303T>G (p.Ser1101Arg)
n.3372T>G
n.3460T>G
n.3332T>G
n.3208T>G
n.3468T>G
 dbSNP
3g.47121357A>GCA433601028SETD2c.3147T>C (p.Ser1049=)
c.3180T>C (p.Ser1060=)
c.1159T>C
c.1220T>C
c.295T>C
c.1443T>C (p.Ser481=)
c.72-23276T>C (n.72-23276T>C)
c.3279T>C (p.Ser1093=)
c.2894T>C
c.2431T>C
c.2179T>C
c.3357T>C (p.Ser1119=)
c.3303T>C (p.Ser1101=)
n.3372T>C
n.3460T>C
n.3332T>C
n.3208T>C
n.3468T>C
 dbSNP
3g.47121357A>TCA352523085SETD2c.3147T>A (p.Ser1049Arg)
c.3180T>A (p.Ser1060Arg)
c.1159T>A
c.1220T>A
c.295T>A
c.1443T>A (p.Ser481Arg)
c.72-23276T>A (n.72-23276T>A)
c.3279T>A (p.Ser1093Arg)
c.2894T>A
c.2431T>A
c.2179T>A
c.3357T>A (p.Ser1119Arg)
c.3303T>A (p.Ser1101Arg)
n.3372T>A
n.3460T>A
n.3332T>A
n.3208T>A
n.3468T>A
 dbSNP
3g.47121358C>ACA352523087SETD2c.3146G>T (p.Ser1049Ile)
c.3179G>T (p.Ser1060Ile)
c.1158G>T
c.1219G>T
c.294G>T
c.1442G>T (p.Ser481Ile)
c.72-23277G>T (n.72-23277G>T)
c.3278G>T (p.Ser1093Ile)
c.2893G>T
c.2430G>T
c.2178G>T
c.3356G>T (p.Ser1119Ile)
c.3302G>T (p.Ser1101Ile)
n.3371G>T
n.3459G>T
n.3331G>T
n.3207G>T
n.3467G>T
 dbSNP
3g.47121358C>GCA352523088SETD2c.3146G>C (p.Ser1049Thr)
c.3179G>C (p.Ser1060Thr)
c.1158G>C
c.1219G>C
c.294G>C
c.1442G>C (p.Ser481Thr)
c.72-23277G>C (n.72-23277G>C)
c.3278G>C (p.Ser1093Thr)
c.2893G>C
c.2430G>C
c.2178G>C
c.3356G>C (p.Ser1119Thr)
c.3302G>C (p.Ser1101Thr)
n.3371G>C
n.3459G>C
n.3331G>C
n.3207G>C
n.3467G>C
 dbSNP
3g.47121358C>TCA352523090SETD2c.3146G>A (p.Ser1049Asn)
c.3179G>A (p.Ser1060Asn)
c.1158G>A
c.1219G>A
c.294G>A
c.1442G>A (p.Ser481Asn)
c.72-23277G>A (n.72-23277G>A)
c.3278G>A (p.Ser1093Asn)
c.2893G>A
c.2430G>A
c.2178G>A
c.3356G>A (p.Ser1119Asn)
c.3302G>A (p.Ser1101Asn)
n.3371G>A
n.3459G>A
n.3331G>A
n.3207G>A
n.3467G>A
 dbSNP gnomAD v4
3g.47121359T>ACA352523092SETD2c.3145A>T (p.Ser1049Cys)
c.3178A>T (p.Ser1060Cys)
c.1157A>T
c.1218A>T
c.293A>T
c.1441A>T (p.Ser481Cys)
c.72-23278A>T (n.72-23278A>T)
c.3277A>T (p.Ser1093Cys)
c.2892A>T
c.2429A>T
c.2177A>T
c.3355A>T (p.Ser1119Cys)
c.3301A>T (p.Ser1101Cys)
n.3370A>T
n.3458A>T
n.3330A>T
n.3206A>T
n.3466A>T
 dbSNP
3g.47121359T>CCA352523093SETD2c.3145A>G (p.Ser1049Gly)
c.3178A>G (p.Ser1060Gly)
c.1157A>G
c.1218A>G
c.293A>G
c.1441A>G (p.Ser481Gly)
c.72-23278A>G (n.72-23278A>G)
c.3277A>G (p.Ser1093Gly)
c.2892A>G
c.2429A>G
c.2177A>G
c.3355A>G (p.Ser1119Gly)
c.3301A>G (p.Ser1101Gly)
n.3370A>G
n.3458A>G
n.3330A>G
n.3206A>G
n.3466A>G
 dbSNP
3g.47121359T>GCA352523094SETD2c.3145A>C (p.Ser1049Arg)
c.3178A>C (p.Ser1060Arg)
c.1157A>C
c.1218A>C
c.293A>C
c.1441A>C (p.Ser481Arg)
c.72-23278A>C (n.72-23278A>C)
c.3277A>C (p.Ser1093Arg)
c.2892A>C
c.2429A>C
c.2177A>C
c.3355A>C (p.Ser1119Arg)
c.3301A>C (p.Ser1101Arg)
n.3370A>C
n.3458A>C
n.3330A>C
n.3206A>C
n.3466A>C
 COSMIC COSMIC
3g.47121360T>ACA352523098SETD2c.3144A>T (p.Gln1048His)
c.3177A>T (p.Gln1059His)
c.1156A>T
c.1217A>T
c.292A>T
c.1440A>T (p.Gln480His)
c.72-23279A>T (n.72-23279A>T)
c.3276A>T (p.Gln1092His)
c.2891A>T
c.2428A>T
c.2176A>T
c.3354A>T (p.Gln1118His)
c.3300A>T (p.Gln1100His)
n.3369A>T
n.3457A>T
n.3329A>T
n.3205A>T
n.3465A>T
 dbSNP
3g.47121360T>CCA2363409SETD2c.3144A>G (p.Gln1048=)
c.3177A>G (p.Gln1059=)
c.1156A>G
c.1217A>G
c.292A>G
c.1440A>G (p.Gln480=)
c.72-23279A>G (n.72-23279A>G)
c.3276A>G (p.Gln1092=)
c.2891A>G
c.2428A>G
c.2176A>G
c.3354A>G (p.Gln1118=)
c.3300A>G (p.Gln1100=)
n.3369A>G
n.3457A>G
n.3329A>G
n.3205A>G
n.3465A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47121360T>GCA352523096SETD2c.3144A>C (p.Gln1048His)
c.3177A>C (p.Gln1059His)
c.1156A>C
c.1217A>C
c.292A>C
c.1440A>C (p.Gln480His)
c.72-23279A>C (n.72-23279A>C)
c.3276A>C (p.Gln1092His)
c.2891A>C
c.2428A>C
c.2176A>C
c.3354A>C (p.Gln1118His)
c.3300A>C (p.Gln1100His)
n.3369A>C
n.3457A>C
n.3329A>C
n.3205A>C
n.3465A>C
3g.47121360T=CA1362408245SETD2c.3144A= (p.Gln1048=)
c.3177A= (p.Gln1059=)
c.1156A=
c.1217A=
c.292A=
c.1440A= (p.Gln480=)
c.72-23279A= (n.72-23279A=)
c.3276A= (p.Gln1092=)
c.2891A=
c.2428A=
c.2176A=
c.3354A= (p.Gln1118=)
c.3300A= (p.Gln1100=)
n.3369A=
n.3457A=
n.3329A=
n.3205A=
n.3465A=
3g.47121361T>ACA352523101SETD2c.3143A>T (p.Gln1048Leu)
c.3176A>T (p.Gln1059Leu)
c.1155A>T
c.1216A>T
c.291A>T
c.1439A>T (p.Gln480Leu)
c.72-23280A>T (n.72-23280A>T)
c.3275A>T (p.Gln1092Leu)
c.2890A>T
c.2427A>T
c.2175A>T
c.3353A>T (p.Gln1118Leu)
c.3299A>T (p.Gln1100Leu)
n.3368A>T
n.3456A>T
n.3328A>T
n.3204A>T
n.3464A>T
 dbSNP gnomAD v4
3g.47121361T>CCA352523103SETD2c.3143A>G (p.Gln1048Arg)
c.3176A>G (p.Gln1059Arg)
c.1155A>G
c.1216A>G
c.291A>G
c.1439A>G (p.Gln480Arg)
c.72-23280A>G (n.72-23280A>G)
c.3275A>G (p.Gln1092Arg)
c.2890A>G
c.2427A>G
c.2175A>G
c.3353A>G (p.Gln1118Arg)
c.3299A>G (p.Gln1100Arg)
n.3368A>G
n.3456A>G
n.3328A>G
n.3204A>G
n.3464A>G
 dbSNP
3g.47121361T>GCA352523105SETD2c.3143A>C (p.Gln1048Pro)
c.3176A>C (p.Gln1059Pro)
c.1155A>C
c.1216A>C
c.291A>C
c.1439A>C (p.Gln480Pro)
c.72-23280A>C (n.72-23280A>C)
c.3275A>C (p.Gln1092Pro)
c.2890A>C
c.2427A>C
c.2175A>C
c.3353A>C (p.Gln1118Pro)
c.3299A>C (p.Gln1100Pro)
n.3368A>C
n.3456A>C
n.3328A>C
n.3204A>C
n.3464A>C
3g.47121362G>ACA352523106SETD2c.3142C>T (p.Gln1048Ter)
c.3175C>T (p.Gln1059Ter)
c.1154C>T
c.1215C>T
c.290C>T
c.1438C>T (p.Gln480Ter)
c.72-23281C>T (n.72-23281C>T)
c.3274C>T (p.Gln1092Ter)
c.2889C>T
c.2426C>T
c.2174C>T
c.3352C>T (p.Gln1118Ter)
c.3298C>T (p.Gln1100Ter)
n.3367C>T
n.3455C>T
n.3327C>T
n.3203C>T
n.3463C>T
 dbSNP
3g.47121362G>CCA352523108SETD2c.3142C>G (p.Gln1048Glu)
c.3175C>G (p.Gln1059Glu)
c.1154C>G
c.1215C>G
c.290C>G
c.1438C>G (p.Gln480Glu)
c.72-23281C>G (n.72-23281C>G)
c.3274C>G (p.Gln1092Glu)
c.2889C>G
c.2426C>G
c.2174C>G
c.3352C>G (p.Gln1118Glu)
c.3298C>G (p.Gln1100Glu)
n.3367C>G
n.3455C>G
n.3327C>G
n.3203C>G
n.3463C>G
 dbSNP
3g.47121362G>TCA352523110SETD2c.3142C>A (p.Gln1048Lys)
c.3175C>A (p.Gln1059Lys)
c.1154C>A
c.1215C>A
c.290C>A
c.1438C>A (p.Gln480Lys)
c.72-23281C>A (n.72-23281C>A)
c.3274C>A (p.Gln1092Lys)
c.2889C>A
c.2426C>A
c.2174C>A
c.3352C>A (p.Gln1118Lys)
c.3298C>A (p.Gln1100Lys)
n.3367C>A
n.3455C>A
n.3327C>A
n.3203C>A
n.3463C>A
 dbSNP gnomAD v4
3g.47121363A>CCA352523111SETD2c.3141T>G (p.Ser1047Arg)
c.3174T>G (p.Ser1058Arg)
c.1153T>G
c.1214T>G
c.289T>G
c.1437T>G (p.Ser479Arg)
c.72-23282T>G (n.72-23282T>G)
c.3273T>G (p.Ser1091Arg)
c.2888T>G
c.2425T>G
c.2173T>G
c.3351T>G (p.Ser1117Arg)
c.3297T>G (p.Ser1099Arg)
n.3366T>G
n.3454T>G
n.3326T>G
n.3202T>G
n.3462T>G
 dbSNP
3g.47121363A>GCA433601050SETD2c.3141T>C (p.Ser1047=)
c.3174T>C (p.Ser1058=)
c.1153T>C
c.1214T>C
c.289T>C
c.1437T>C (p.Ser479=)
c.72-23282T>C (n.72-23282T>C)
c.3273T>C (p.Ser1091=)
c.2888T>C
c.2425T>C
c.2173T>C
c.3351T>C (p.Ser1117=)
c.3297T>C (p.Ser1099=)
n.3366T>C
n.3454T>C
n.3326T>C
n.3202T>C
n.3462T>C
 dbSNP
3g.47121363A>TCA352523112SETD2c.3141T>A (p.Ser1047Arg)
c.3174T>A (p.Ser1058Arg)
c.1153T>A
c.1214T>A
c.289T>A
c.1437T>A (p.Ser479Arg)
c.72-23282T>A (n.72-23282T>A)
c.3273T>A (p.Ser1091Arg)
c.2888T>A
c.2425T>A
c.2173T>A
c.3351T>A (p.Ser1117Arg)
c.3297T>A (p.Ser1099Arg)
n.3366T>A
n.3454T>A
n.3326T>A
n.3202T>A
n.3462T>A
 dbSNP gnomAD v4
3g.47121364C>ACA352523114SETD2c.3140G>T (p.Ser1047Ile)
c.3173G>T (p.Ser1058Ile)
c.1152G>T
c.1213G>T
c.288G>T
c.1436G>T (p.Ser479Ile)
c.72-23283G>T (n.72-23283G>T)
c.3272G>T (p.Ser1091Ile)
c.2887G>T
c.2424G>T
c.2172G>T
c.3350G>T (p.Ser1117Ile)
c.3296G>T (p.Ser1099Ile)
n.3365G>T
n.3453G>T
n.3325G>T
n.3201G>T
n.3461G>T
 dbSNP
3g.47121364C>GCA352523116SETD2c.3140G>C (p.Ser1047Thr)
c.3173G>C (p.Ser1058Thr)
c.1152G>C
c.1213G>C
c.288G>C
c.1436G>C (p.Ser479Thr)
c.72-23283G>C (n.72-23283G>C)
c.3272G>C (p.Ser1091Thr)
c.2887G>C
c.2424G>C
c.2172G>C
c.3350G>C (p.Ser1117Thr)
c.3296G>C (p.Ser1099Thr)
n.3365G>C
n.3453G>C
n.3325G>C
n.3201G>C
n.3461G>C
 dbSNP
3g.47121364C>TCA352523117SETD2c.3140G>A (p.Ser1047Asn)
c.3173G>A (p.Ser1058Asn)
c.1152G>A
c.1213G>A
c.288G>A
c.1436G>A (p.Ser479Asn)
c.72-23283G>A (n.72-23283G>A)
c.3272G>A (p.Ser1091Asn)
c.2887G>A
c.2424G>A
c.2172G>A
c.3350G>A (p.Ser1117Asn)
c.3296G>A (p.Ser1099Asn)
n.3365G>A
n.3453G>A
n.3325G>A
n.3201G>A
n.3461G>A
 dbSNP
3g.47121365T>ACA352523119SETD2c.3139A>T (p.Ser1047Cys)
c.3172A>T (p.Ser1058Cys)
c.1151A>T
c.1212A>T
c.287A>T
c.1435A>T (p.Ser479Cys)
c.72-23284A>T (n.72-23284A>T)
c.3271A>T (p.Ser1091Cys)
c.2886A>T
c.2423A>T
c.2171A>T
c.3349A>T (p.Ser1117Cys)
c.3295A>T (p.Ser1099Cys)
n.3364A>T
n.3452A>T
n.3324A>T
n.3200A>T
n.3460A>T
 dbSNP
3g.47121365T>CCA352523120SETD2c.3139A>G (p.Ser1047Gly)
c.3172A>G (p.Ser1058Gly)
c.1151A>G
c.1212A>G
c.287A>G
c.1435A>G (p.Ser479Gly)
c.72-23284A>G (n.72-23284A>G)
c.3271A>G (p.Ser1091Gly)
c.2886A>G
c.2423A>G
c.2171A>G
c.3349A>G (p.Ser1117Gly)
c.3295A>G (p.Ser1099Gly)
n.3364A>G
n.3452A>G
n.3324A>G
n.3200A>G
n.3460A>G
 dbSNP gnomAD v2 gnomAD v4
3g.47121365T>GCA352523122SETD2c.3139A>C (p.Ser1047Arg)
c.3172A>C (p.Ser1058Arg)
c.1151A>C
c.1212A>C
c.287A>C
c.1435A>C (p.Ser479Arg)
c.72-23284A>C (n.72-23284A>C)
c.3271A>C (p.Ser1091Arg)
c.2886A>C
c.2423A>C
c.2171A>C
c.3349A>C (p.Ser1117Arg)
c.3295A>C (p.Ser1099Arg)
n.3364A>C
n.3452A>C
n.3324A>C
n.3200A>C
n.3460A>C
 ClinVar dbSNP
3g.47121365T=CA1362408250SETD2c.3139A= (p.Ser1047=)
c.3172A= (p.Ser1058=)
c.1151A=
c.1212A=
c.287A=
c.1435A= (p.Ser479=)
c.72-23284A= (n.72-23284A=)
c.3271A= (p.Ser1091=)
c.2886A=
c.2423A=
c.2171A=
c.3349A= (p.Ser1117=)
c.3295A= (p.Ser1099=)
n.3364A=
n.3452A=
n.3324A=
n.3200A=
n.3460A=
3g.47121366G>ACA433601062SETD2c.3138C>T (p.Ser1046=)
c.3171C>T (p.Ser1057=)
c.1150C>T
c.1211C>T
c.286C>T
c.1434C>T (p.Ser478=)
c.72-23285C>T (n.72-23285C>T)
c.3270C>T (p.Ser1090=)
c.2885C>T
c.2422C>T
c.2170C>T
c.3348C>T (p.Ser1116=)
c.3294C>T (p.Ser1098=)
n.3363C>T
n.3451C>T
n.3323C>T
n.3199C>T
n.3459C>T
 dbSNP gnomAD v4
3g.47121366G>CCA352523124SETD2c.3138C>G (p.Ser1046Arg)
c.3171C>G (p.Ser1057Arg)
c.1150C>G
c.1211C>G
c.286C>G
c.1434C>G (p.Ser478Arg)
c.72-23285C>G (n.72-23285C>G)
c.3270C>G (p.Ser1090Arg)
c.2885C>G
c.2422C>G
c.2170C>G
c.3348C>G (p.Ser1116Arg)
c.3294C>G (p.Ser1098Arg)
n.3363C>G
n.3451C>G
n.3323C>G
n.3199C>G
n.3459C>G
 dbSNP
3g.47121366G>TCA352523126SETD2c.3138C>A (p.Ser1046Arg)
c.3171C>A (p.Ser1057Arg)
c.1150C>A
c.1211C>A
c.286C>A
c.1434C>A (p.Ser478Arg)
c.72-23285C>A (n.72-23285C>A)
c.3270C>A (p.Ser1090Arg)
c.2885C>A
c.2422C>A
c.2170C>A
c.3348C>A (p.Ser1116Arg)
c.3294C>A (p.Ser1098Arg)
n.3363C>A
n.3451C>A
n.3323C>A
n.3199C>A
n.3459C>A
 dbSNP
3g.47121367C>ACA352523128SETD2c.3137G>T (p.Ser1046Ile)
c.3170G>T (p.Ser1057Ile)
c.1149G>T
c.1210G>T
c.285G>T
c.1433G>T (p.Ser478Ile)
c.72-23286G>T (n.72-23286G>T)
c.3269G>T (p.Ser1090Ile)
c.2884G>T
c.2421G>T
c.2169G>T
c.3347G>T (p.Ser1116Ile)
c.3293G>T (p.Ser1098Ile)
n.3362G>T
n.3450G>T
n.3322G>T
n.3198G>T
n.3458G>T
 dbSNP
3g.47121367C=CA1362408254SETD2c.3137G= (p.Ser1046=)
c.3170G= (p.Ser1057=)
c.1149G=
c.1210G=
c.285G=
c.1433G= (p.Ser478=)
c.72-23286G= (n.72-23286G=)
c.3269G= (p.Ser1090=)
c.2884G=
c.2421G=
c.2169G=
c.3347G= (p.Ser1116=)
c.3293G= (p.Ser1098=)
n.3362G=
n.3450G=
n.3322G=
n.3198G=
n.3458G=
3g.47121367C>GCA352523130SETD2c.3137G>C (p.Ser1046Thr)
c.3170G>C (p.Ser1057Thr)
c.1149G>C
c.1210G>C
c.285G>C
c.1433G>C (p.Ser478Thr)
c.72-23286G>C (n.72-23286G>C)
c.3269G>C (p.Ser1090Thr)
c.2884G>C
c.2421G>C
c.2169G>C
c.3347G>C (p.Ser1116Thr)
c.3293G>C (p.Ser1098Thr)
n.3362G>C
n.3450G>C
n.3322G>C
n.3198G>C
n.3458G>C
 dbSNP
3g.47121367C>TCA2363410SETD2c.3137G>A (p.Ser1046Asn)
c.3170G>A (p.Ser1057Asn)
c.1149G>A
c.1210G>A
c.285G>A
c.1433G>A (p.Ser478Asn)
c.72-23286G>A (n.72-23286G>A)
c.3269G>A (p.Ser1090Asn)
c.2884G>A
c.2421G>A
c.2169G>A
c.3347G>A (p.Ser1116Asn)
c.3293G>A (p.Ser1098Asn)
n.3362G>A
n.3450G>A
n.3322G>A
n.3198G>A
n.3458G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47121368T>ACA352523132SETD2c.3136A>T (p.Ser1046Cys)
c.3169A>T (p.Ser1057Cys)
c.1148A>T
c.1209A>T
c.284A>T
c.1432A>T (p.Ser478Cys)
c.72-23287A>T (n.72-23287A>T)
c.3268A>T (p.Ser1090Cys)
c.2883A>T
c.2420A>T
c.2168A>T
c.3346A>T (p.Ser1116Cys)
c.3292A>T (p.Ser1098Cys)
n.3361A>T
n.3449A>T
n.3321A>T
n.3197A>T
n.3457A>T
3g.47121368T>CCA352523134SETD2c.3136A>G (p.Ser1046Gly)
c.3169A>G (p.Ser1057Gly)
c.1148A>G
c.1209A>G
c.284A>G
c.1432A>G (p.Ser478Gly)
c.72-23287A>G (n.72-23287A>G)
c.3268A>G (p.Ser1090Gly)
c.2883A>G
c.2420A>G
c.2168A>G
c.3346A>G (p.Ser1116Gly)
c.3292A>G (p.Ser1098Gly)
n.3361A>G
n.3449A>G
n.3321A>G
n.3197A>G
n.3457A>G
 dbSNP
3g.47121368T>GCA352523136SETD2c.3136A>C (p.Ser1046Arg)
c.3169A>C (p.Ser1057Arg)
c.1148A>C
c.1209A>C
c.284A>C
c.1432A>C (p.Ser478Arg)
c.72-23287A>C (n.72-23287A>C)
c.3268A>C (p.Ser1090Arg)
c.2883A>C
c.2420A>C
c.2168A>C
c.3346A>C (p.Ser1116Arg)
c.3292A>C (p.Ser1098Arg)
n.3361A>C
n.3449A>C
n.3321A>C
n.3197A>C
n.3457A>C
3g.47121369C>ACA433601071SETD2c.3135G>T (p.Arg1045=)
c.3168G>T (p.Arg1056=)
c.1147G>T
c.1208G>T
c.283G>T
c.1431G>T (p.Arg477=)
c.72-23288G>T (n.72-23288G>T)
c.3267G>T (p.Arg1089=)
c.2882G>T
c.2419G>T
c.2167G>T
c.3345G>T (p.Arg1115=)
c.3291G>T (p.Arg1097=)
n.3360G>T
n.3448G>T
n.3320G>T
n.3196G>T
n.3456G>T
3g.47121369C>GCA433601072SETD2c.3135G>C (p.Arg1045=)
c.3168G>C (p.Arg1056=)
c.1147G>C
c.1208G>C
c.283G>C
c.1431G>C (p.Arg477=)
c.72-23288G>C (n.72-23288G>C)
c.3267G>C (p.Arg1089=)
c.2882G>C
c.2419G>C
c.2167G>C
c.3345G>C (p.Arg1115=)
c.3291G>C (p.Arg1097=)
n.3360G>C
n.3448G>C
n.3320G>C
n.3196G>C
n.3456G>C
 gnomAD v4
3g.47121369C>TCA433601073SETD2c.3135G>A (p.Arg1045=)
c.3168G>A (p.Arg1056=)
c.1147G>A
c.1208G>A
c.283G>A
c.1431G>A (p.Arg477=)
c.72-23288G>A (n.72-23288G>A)
c.3267G>A (p.Arg1089=)
c.2882G>A
c.2419G>A
c.2167G>A
c.3345G>A (p.Arg1115=)
c.3291G>A (p.Arg1097=)
n.3360G>A
n.3448G>A
n.3320G>A
n.3196G>A
n.3456G>A
3g.47121370C>ACA2363412SETD2c.3134G>T (p.Arg1045Leu)
c.3167G>T (p.Arg1056Leu)
c.1146G>T
c.1207G>T
c.282G>T
c.1430G>T (p.Arg477Leu)
c.72-23289G>T (n.72-23289G>T)
c.3266G>T (p.Arg1089Leu)
c.2881G>T
c.2418G>T
c.2166G>T
c.3344G>T (p.Arg1115Leu)
c.3290G>T (p.Arg1097Leu)
n.3359G>T
n.3447G>T
n.3319G>T
n.3195G>T
n.3455G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47121370C=CA1362408268SETD2c.3134G= (p.Arg1045=)
c.3167G= (p.Arg1056=)
c.1146G=
c.1207G=
c.282G=
c.1430G= (p.Arg477=)
c.72-23289G= (n.72-23289G=)
c.3266G= (p.Arg1089=)
c.2881G=
c.2418G=
c.2166G=
c.3344G= (p.Arg1115=)
c.3290G= (p.Arg1097=)
n.3359G=
n.3447G=
n.3319G=
n.3195G=
n.3455G=
3g.47121370C>GCA352523138SETD2c.3134G>C (p.Arg1045Pro)
c.3167G>C (p.Arg1056Pro)
c.1146G>C
c.1207G>C
c.282G>C
c.1430G>C (p.Arg477Pro)
c.72-23289G>C (n.72-23289G>C)
c.3266G>C (p.Arg1089Pro)
c.2881G>C
c.2418G>C
c.2166G>C
c.3344G>C (p.Arg1115Pro)
c.3290G>C (p.Arg1097Pro)
n.3359G>C
n.3447G>C
n.3319G>C
n.3195G>C
n.3455G>C
 dbSNP gnomAD v4
3g.47121370C>TCA2363411SETD2c.3134G>A (p.Arg1045Gln)
c.3167G>A (p.Arg1056Gln)
c.1146G>A
c.1207G>A
c.282G>A
c.1430G>A (p.Arg477Gln)
c.72-23289G>A (n.72-23289G>A)
c.3266G>A (p.Arg1089Gln)
c.2881G>A
c.2418G>A
c.2166G>A
c.3344G>A (p.Arg1115Gln)
c.3290G>A (p.Arg1097Gln)
n.3359G>A
n.3447G>A
n.3319G>A
n.3195G>A
n.3455G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
3g.47121371G>ACA2363413SETD2c.3133C>T (p.Arg1045Trp)
c.3166C>T (p.Arg1056Trp)
c.1145C>T
c.1206C>T
c.281C>T
c.1429C>T (p.Arg477Trp)
c.72-23290C>T (n.72-23290C>T)
c.3265C>T (p.Arg1089Trp)
c.2880C>T
c.2417C>T
c.2165C>T
c.3343C>T (p.Arg1115Trp)
c.3289C>T (p.Arg1097Trp)
n.3358C>T
n.3446C>T
n.3318C>T
n.3194C>T
n.3454C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47121371G>CCA352523141SETD2c.3133C>G (p.Arg1045Gly)
c.3166C>G (p.Arg1056Gly)
c.1145C>G
c.1206C>G
c.281C>G
c.1429C>G (p.Arg477Gly)
c.72-23290C>G (n.72-23290C>G)
c.3265C>G (p.Arg1089Gly)
c.2880C>G
c.2417C>G
c.2165C>G
c.3343C>G (p.Arg1115Gly)
c.3289C>G (p.Arg1097Gly)
n.3358C>G
n.3446C>G
n.3318C>G
n.3194C>G
n.3454C>G
 dbSNP
3g.47121371G=CA1362408276SETD2c.3133C= (p.Arg1045=)
c.3166C= (p.Arg1056=)
c.1145C=
c.1206C=
c.281C=
c.1429C= (p.Arg477=)
c.72-23290C= (n.72-23290C=)
c.3265C= (p.Arg1089=)
c.2880C=
c.2417C=
c.2165C=
c.3343C= (p.Arg1115=)
c.3289C= (p.Arg1097=)
n.3358C=
n.3446C=
n.3318C=
n.3194C=
n.3454C=
3g.47121371G>TCA433601080SETD2c.3133C>A (p.Arg1045=)
c.3166C>A (p.Arg1056=)
c.1145C>A
c.1206C>A
c.281C>A
c.1429C>A (p.Arg477=)
c.72-23290C>A (n.72-23290C>A)
c.3265C>A (p.Arg1089=)
c.2880C>A
c.2417C>A
c.2165C>A
c.3343C>A (p.Arg1115=)
c.3289C>A (p.Arg1097=)
n.3358C>A
n.3446C>A
n.3318C>A
n.3194C>A
n.3454C>A
 dbSNP
3g.47121372A>CCA433601081SETD2c.3132T>G (p.Ser1044=)
c.3165T>G (p.Ser1055=)
c.1144T>G
c.1205T>G
c.280T>G
c.1428T>G (p.Ser476=)
c.72-23291T>G (n.72-23291T>G)
c.3264T>G (p.Ser1088=)
c.2879T>G
c.2416T>G
c.2164T>G
c.3342T>G (p.Ser1114=)
c.3288T>G (p.Ser1096=)
n.3357T>G
n.3445T>G
n.3317T>G
n.3193T>G
n.3453T>G
 dbSNP
3g.47121372A>GCA433601083SETD2c.3132T>C (p.Ser1044=)
c.3165T>C (p.Ser1055=)
c.1144T>C
c.1205T>C
c.280T>C
c.1428T>C (p.Ser476=)
c.72-23291T>C (n.72-23291T>C)
c.3264T>C (p.Ser1088=)
c.2879T>C
c.2416T>C
c.2164T>C
c.3342T>C (p.Ser1114=)
c.3288T>C (p.Ser1096=)
n.3357T>C
n.3445T>C
n.3317T>C
n.3193T>C
n.3453T>C
 dbSNP
3g.47121372A>TCA433601084SETD2c.3132T>A (p.Ser1044=)
c.3165T>A (p.Ser1055=)
c.1144T>A
c.1205T>A
c.280T>A
c.1428T>A (p.Ser476=)
c.72-23291T>A (n.72-23291T>A)
c.3264T>A (p.Ser1088=)
c.2879T>A
c.2416T>A
c.2164T>A
c.3342T>A (p.Ser1114=)
c.3288T>A (p.Ser1096=)
n.3357T>A
n.3445T>A
n.3317T>A
n.3193T>A
n.3453T>A
 dbSNP
3g.47121373G>ACA352523144SETD2c.3131C>T (p.Ser1044Phe)
c.3164C>T (p.Ser1055Phe)
c.1143C>T
c.1204C>T
c.279C>T
c.1427C>T (p.Ser476Phe)
c.72-23292C>T (n.72-23292C>T)
c.3263C>T (p.Ser1088Phe)
c.2878C>T
c.2415C>T
c.2163C>T
c.3341C>T (p.Ser1114Phe)
c.3287C>T (p.Ser1096Phe)
n.3356C>T
n.3444C>T
n.3316C>T
n.3192C>T
n.3452C>T
 dbSNP
3g.47121373G>CCA352523145SETD2c.3131C>G (p.Ser1044Cys)
c.3164C>G (p.Ser1055Cys)
c.1143C>G
c.1204C>G
c.279C>G
c.1427C>G (p.Ser476Cys)
c.72-23292C>G (n.72-23292C>G)
c.3263C>G (p.Ser1088Cys)
c.2878C>G
c.2415C>G
c.2163C>G
c.3341C>G (p.Ser1114Cys)
c.3287C>G (p.Ser1096Cys)
n.3356C>G
n.3444C>G
n.3316C>G
n.3192C>G
n.3452C>G
 dbSNP
3g.47121373G>TCA352523146SETD2c.3131C>A (p.Ser1044Tyr)
c.3164C>A (p.Ser1055Tyr)
c.1143C>A
c.1204C>A
c.279C>A
c.1427C>A (p.Ser476Tyr)
c.72-23292C>A (n.72-23292C>A)
c.3263C>A (p.Ser1088Tyr)
c.2878C>A
c.2415C>A
c.2163C>A
c.3341C>A (p.Ser1114Tyr)
c.3287C>A (p.Ser1096Tyr)
n.3356C>A
n.3444C>A
n.3316C>A
n.3192C>A
n.3452C>A
 dbSNP
3g.47121374A>CCA352523152SETD2c.3130T>G (p.Ser1044Ala)
c.3163T>G (p.Ser1055Ala)
c.1142T>G
c.1203T>G
c.278T>G
c.1426T>G (p.Ser476Ala)
c.72-23293T>G (n.72-23293T>G)
c.3262T>G (p.Ser1088Ala)
c.2877T>G
c.2414T>G
c.2162T>G
c.3340T>G (p.Ser1114Ala)
c.3286T>G (p.Ser1096Ala)
n.3355T>G
n.3443T>G
n.3315T>G
n.3191T>G
n.3451T>G
 dbSNP
3g.47121374A>GCA352523150SETD2c.3130T>C (p.Ser1044Pro)
c.3163T>C (p.Ser1055Pro)
c.1142T>C
c.1203T>C
c.278T>C
c.1426T>C (p.Ser476Pro)
c.72-23293T>C (n.72-23293T>C)
c.3262T>C (p.Ser1088Pro)
c.2877T>C
c.2414T>C
c.2162T>C
c.3340T>C (p.Ser1114Pro)
c.3286T>C (p.Ser1096Pro)
n.3355T>C
n.3443T>C
n.3315T>C
n.3191T>C
n.3451T>C
 dbSNP
3g.47121374A>TCA352523148SETD2c.3130T>A (p.Ser1044Thr)
c.3163T>A (p.Ser1055Thr)
c.1142T>A
c.1203T>A
c.278T>A
c.1426T>A (p.Ser476Thr)
c.72-23293T>A (n.72-23293T>A)
c.3262T>A (p.Ser1088Thr)
c.2877T>A
c.2414T>A
c.2162T>A
c.3340T>A (p.Ser1114Thr)
c.3286T>A (p.Ser1096Thr)
n.3355T>A
n.3443T>A
n.3315T>A
n.3191T>A
n.3451T>A
 dbSNP
3g.47121375A>CCA433601099SETD2c.3129T>G (p.Ser1043=)
c.3162T>G (p.Ser1054=)
c.1141T>G
c.1202T>G
c.277T>G
c.1425T>G (p.Ser475=)
c.72-23294T>G (n.72-23294T>G)
c.3261T>G (p.Ser1087=)
c.2876T>G
c.2413T>G
c.2161T>G
c.3339T>G (p.Ser1113=)
c.3285T>G (p.Ser1095=)
n.3354T>G
n.3442T>G
n.3314T>G
n.3190T>G
n.3450T>G
3g.47121375A>GCA433601098SETD2c.3129T>C (p.Ser1043=)
c.3162T>C (p.Ser1054=)
c.1141T>C
c.1202T>C
c.277T>C
c.1425T>C (p.Ser475=)
c.72-23294T>C (n.72-23294T>C)
c.3261T>C (p.Ser1087=)
c.2876T>C
c.2413T>C
c.2161T>C
c.3339T>C (p.Ser1113=)
c.3285T>C (p.Ser1095=)
n.3354T>C
n.3442T>C
n.3314T>C
n.3190T>C
n.3450T>C
 dbSNP
3g.47121375A>TCA433601096SETD2c.3129T>A (p.Ser1043=)
c.3162T>A (p.Ser1054=)
c.1141T>A
c.1202T>A
c.277T>A
c.1425T>A (p.Ser475=)
c.72-23294T>A (n.72-23294T>A)
c.3261T>A (p.Ser1087=)
c.2876T>A
c.2413T>A
c.2161T>A
c.3339T>A (p.Ser1113=)
c.3285T>A (p.Ser1095=)
n.3354T>A
n.3442T>A
n.3314T>A
n.3190T>A
n.3450T>A
 dbSNP
3g.47121376G>ACA352523153SETD2c.3128C>T (p.Ser1043Phe)
c.3161C>T (p.Ser1054Phe)
c.1140C>T
c.1201C>T
c.276C>T
c.1424C>T (p.Ser475Phe)
c.72-23295C>T (n.72-23295C>T)
c.3260C>T (p.Ser1087Phe)
c.2875C>T
c.2412C>T
c.2160C>T
c.3338C>T (p.Ser1113Phe)
c.3284C>T (p.Ser1095Phe)
n.3353C>T
n.3441C>T
n.3313C>T
n.3189C>T
n.3449C>T
 dbSNP gnomAD v2 gnomAD v4
3g.47121376G>CCA352523154SETD2c.3128C>G (p.Ser1043Cys)
c.3161C>G (p.Ser1054Cys)
c.1140C>G
c.1201C>G
c.276C>G
c.1424C>G (p.Ser475Cys)
c.72-23295C>G (n.72-23295C>G)
c.3260C>G (p.Ser1087Cys)
c.2875C>G
c.2412C>G
c.2160C>G
c.3338C>G (p.Ser1113Cys)
c.3284C>G (p.Ser1095Cys)
n.3353C>G
n.3441C>G
n.3313C>G
n.3189C>G
n.3449C>G
 dbSNP
3g.47121376G=CA1362408282SETD2c.3128C= (p.Ser1043=)
c.3161C= (p.Ser1054=)
c.1140C=
c.1201C=
c.276C=
c.1424C= (p.Ser475=)
c.72-23295C= (n.72-23295C=)
c.3260C= (p.Ser1087=)
c.2875C=
c.2412C=
c.2160C=
c.3338C= (p.Ser1113=)
c.3284C= (p.Ser1095=)
n.3353C=
n.3441C=
n.3313C=
n.3189C=
n.3449C=
3g.47121376G>TCA352523157SETD2c.3128C>A (p.Ser1043Tyr)
c.3161C>A (p.Ser1054Tyr)
c.1140C>A
c.1201C>A
c.276C>A
c.1424C>A (p.Ser475Tyr)
c.72-23295C>A (n.72-23295C>A)
c.3260C>A (p.Ser1087Tyr)
c.2875C>A
c.2412C>A
c.2160C>A
c.3338C>A (p.Ser1113Tyr)
c.3284C>A (p.Ser1095Tyr)
n.3353C>A
n.3441C>A
n.3313C>A
n.3189C>A
n.3449C>A
 dbSNP gnomAD v2 gnomAD v4
3g.47121377A=CA1362408289SETD2c.3127T= (p.Ser1043=)
c.3160T= (p.Ser1054=)
c.1139T=
c.1200T=
c.275T=
c.1423T= (p.Ser475=)
c.72-23296T= (n.72-23296T=)
c.3259T= (p.Ser1087=)
c.2874T=
c.2411T=
c.2159T=
c.3337T= (p.Ser1113=)
c.3283T= (p.Ser1095=)
n.3352T=
n.3440T=
n.3312T=
n.3188T=
n.3448T=
3g.47121377A>CCA352523159SETD2c.3127T>G (p.Ser1043Ala)
c.3160T>G (p.Ser1054Ala)
c.1139T>G
c.1200T>G
c.275T>G
c.1423T>G (p.Ser475Ala)
c.72-23296T>G (n.72-23296T>G)
c.3259T>G (p.Ser1087Ala)
c.2874T>G
c.2411T>G
c.2159T>G
c.3337T>G (p.Ser1113Ala)
c.3283T>G (p.Ser1095Ala)
n.3352T>G
n.3440T>G
n.3312T>G
n.3188T>G
n.3448T>G
 dbSNP
3g.47121377A>GCA352523160SETD2c.3127T>C (p.Ser1043Pro)
c.3160T>C (p.Ser1054Pro)
c.1139T>C
c.1200T>C
c.275T>C
c.1423T>C (p.Ser475Pro)
c.72-23296T>C (n.72-23296T>C)
c.3259T>C (p.Ser1087Pro)
c.2874T>C
c.2411T>C
c.2159T>C
c.3337T>C (p.Ser1113Pro)
c.3283T>C (p.Ser1095Pro)
n.3352T>C
n.3440T>C
n.3312T>C
n.3188T>C
n.3448T>C
 dbSNP gnomAD v4
3g.47121377A>TCA352523161SETD2c.3127T>A (p.Ser1043Thr)
c.3160T>A (p.Ser1054Thr)
c.1139T>A
c.1200T>A
c.275T>A
c.1423T>A (p.Ser475Thr)
c.72-23296T>A (n.72-23296T>A)
c.3259T>A (p.Ser1087Thr)
c.2874T>A
c.2411T>A
c.2159T>A
c.3337T>A (p.Ser1113Thr)
c.3283T>A (p.Ser1095Thr)
n.3352T>A
n.3440T>A
n.3312T>A
n.3188T>A
n.3448T>A
 dbSNP
3g.47121378A>CCA352523163SETD2c.3126T>G (p.Cys1042Trp)
c.3159T>G (p.Cys1053Trp)
c.1138T>G
c.1199T>G
c.274T>G
c.1422T>G (p.Cys474Trp)
c.72-23297T>G (n.72-23297T>G)
c.3258T>G (p.Cys1086Trp)
c.2873T>G
c.2410T>G
c.2158T>G
c.3336T>G (p.Cys1112Trp)
c.3282T>G (p.Cys1094Trp)
n.3351T>G
n.3439T>G
n.3311T>G
n.3187T>G
n.3447T>G
 dbSNP
3g.47121378A>GCA433601105SETD2c.3126T>C (p.Cys1042=)
c.3159T>C (p.Cys1053=)
c.1138T>C
c.1199T>C
c.274T>C
c.1422T>C (p.Cys474=)
c.72-23297T>C (n.72-23297T>C)
c.3258T>C (p.Cys1086=)
c.2873T>C
c.2410T>C
c.2158T>C
c.3336T>C (p.Cys1112=)
c.3282T>C (p.Cys1094=)
n.3351T>C
n.3439T>C
n.3311T>C
n.3187T>C
n.3447T>C
 dbSNP
3g.47121378A>TCA352523165SETD2c.3126T>A (p.Cys1042Ter)
c.3159T>A (p.Cys1053Ter)
c.1138T>A
c.1199T>A
c.274T>A
c.1422T>A (p.Cys474Ter)
c.72-23297T>A (n.72-23297T>A)
c.3258T>A (p.Cys1086Ter)
c.2873T>A
c.2410T>A
c.2158T>A
c.3336T>A (p.Cys1112Ter)
c.3282T>A (p.Cys1094Ter)
n.3351T>A
n.3439T>A
n.3311T>A
n.3187T>A
n.3447T>A
 dbSNP
3g.47121379C>ACA352523166SETD2c.3125G>T (p.Cys1042Phe)
c.3158G>T (p.Cys1053Phe)
c.1137G>T
c.1198G>T
c.273G>T
c.1421G>T (p.Cys474Phe)
c.72-23298G>T (n.72-23298G>T)
c.3257G>T (p.Cys1086Phe)
c.2872G>T
c.2409G>T
c.2157G>T
c.3335G>T (p.Cys1112Phe)
c.3281G>T (p.Cys1094Phe)
n.3350G>T
n.3438G>T
n.3310G>T
n.3186G>T
n.3446G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47121379C=CA1362408294SETD2c.3125G= (p.Cys1042=)
c.3158G= (p.Cys1053=)
c.1137G=
c.1198G=
c.273G=
c.1421G= (p.Cys474=)
c.72-23298G= (n.72-23298G=)
c.3257G= (p.Cys1086=)
c.2872G=
c.2409G=
c.2157G=
c.3335G= (p.Cys1112=)
c.3281G= (p.Cys1094=)
n.3350G=
n.3438G=
n.3310G=
n.3186G=
n.3446G=
3g.47121379C>GCA352523168SETD2c.3125G>C (p.Cys1042Ser)
c.3158G>C (p.Cys1053Ser)
c.1137G>C
c.1198G>C
c.273G>C
c.1421G>C (p.Cys474Ser)
c.72-23298G>C (n.72-23298G>C)
c.3257G>C (p.Cys1086Ser)
c.2872G>C
c.2409G>C
c.2157G>C
c.3335G>C (p.Cys1112Ser)
c.3281G>C (p.Cys1094Ser)
n.3350G>C
n.3438G>C
n.3310G>C
n.3186G>C
n.3446G>C
 dbSNP gnomAD v4
3g.47121379C>TCA352523170SETD2c.3125G>A (p.Cys1042Tyr)
c.3158G>A (p.Cys1053Tyr)
c.1137G>A
c.1198G>A
c.273G>A
c.1421G>A (p.Cys474Tyr)
c.72-23298G>A (n.72-23298G>A)
c.3257G>A (p.Cys1086Tyr)
c.2872G>A
c.2409G>A
c.2157G>A
c.3335G>A (p.Cys1112Tyr)
c.3281G>A (p.Cys1094Tyr)
n.3350G>A
n.3438G>A
n.3310G>A
n.3186G>A
n.3446G>A
 dbSNP
3g.47121380A>CCA352523174SETD2c.3124T>G (p.Cys1042Gly)
c.3157T>G (p.Cys1053Gly)
c.1136T>G
c.1197T>G
c.272T>G
c.1420T>G (p.Cys474Gly)
c.72-23299T>G (n.72-23299T>G)
c.3256T>G (p.Cys1086Gly)
c.2871T>G
c.2408T>G
c.2156T>G
c.3334T>G (p.Cys1112Gly)
c.3280T>G (p.Cys1094Gly)
n.3349T>G
n.3437T>G
n.3309T>G
n.3185T>G
n.3445T>G
 dbSNP
3g.47121380A>GCA352523173SETD2c.3124T>C (p.Cys1042Arg)
c.3157T>C (p.Cys1053Arg)
c.1136T>C
c.1197T>C
c.272T>C
c.1420T>C (p.Cys474Arg)
c.72-23299T>C (n.72-23299T>C)
c.3256T>C (p.Cys1086Arg)
c.2871T>C
c.2408T>C
c.2156T>C
c.3334T>C (p.Cys1112Arg)
c.3280T>C (p.Cys1094Arg)
n.3349T>C
n.3437T>C
n.3309T>C
n.3185T>C
n.3445T>C
 dbSNP
3g.47121380A>TCA352523172SETD2c.3124T>A (p.Cys1042Ser)
c.3157T>A (p.Cys1053Ser)
c.1136T>A
c.1197T>A
c.272T>A
c.1420T>A (p.Cys474Ser)
c.72-23299T>A (n.72-23299T>A)
c.3256T>A (p.Cys1086Ser)
c.2871T>A
c.2408T>A
c.2156T>A
c.3334T>A (p.Cys1112Ser)
c.3280T>A (p.Cys1094Ser)
n.3349T>A
n.3437T>A
n.3309T>A
n.3185T>A
n.3445T>A
 dbSNP
3g.47121381A>CCA433601113SETD2c.3123T>G (p.Pro1041=)
c.3156T>G (p.Pro1052=)
c.1135T>G
c.1196T>G
c.271T>G
c.1419T>G (p.Pro473=)
c.72-23300T>G (n.72-23300T>G)
c.3255T>G (p.Pro1085=)
c.2870T>G
c.2407T>G
c.2155T>G
c.3333T>G (p.Pro1111=)
c.3279T>G (p.Pro1093=)
n.3348T>G
n.3436T>G
n.3308T>G
n.3184T>G
n.3444T>G
3g.47121381A>GCA433601116SETD2c.3123T>C (p.Pro1041=)
c.3156T>C (p.Pro1052=)
c.1135T>C
c.1196T>C
c.271T>C
c.1419T>C (p.Pro473=)
c.72-23300T>C (n.72-23300T>C)
c.3255T>C (p.Pro1085=)
c.2870T>C
c.2407T>C
c.2155T>C
c.3333T>C (p.Pro1111=)
c.3279T>C (p.Pro1093=)
n.3348T>C
n.3436T>C
n.3308T>C
n.3184T>C
n.3444T>C
 dbSNP gnomAD v4
3g.47121381A>TCA433601115SETD2c.3123T>A (p.Pro1041=)
c.3156T>A (p.Pro1052=)
c.1135T>A
c.1196T>A
c.271T>A
c.1419T>A (p.Pro473=)
c.72-23300T>A (n.72-23300T>A)
c.3255T>A (p.Pro1085=)
c.2870T>A
c.2407T>A
c.2155T>A
c.3333T>A (p.Pro1111=)
c.3279T>A (p.Pro1093=)
n.3348T>A
n.3436T>A
n.3308T>A
n.3184T>A
n.3444T>A
 dbSNP
3g.47121382G>ACA352523177SETD2c.3122C>T (p.Pro1041Leu)
c.3155C>T (p.Pro1052Leu)
c.1134C>T
c.1195C>T
c.270C>T
c.1418C>T (p.Pro473Leu)
c.72-23301C>T (n.72-23301C>T)
c.3254C>T (p.Pro1085Leu)
c.2869C>T
c.2406C>T
c.2154C>T
c.3332C>T (p.Pro1111Leu)
c.3278C>T (p.Pro1093Leu)
n.3347C>T
n.3435C>T
n.3307C>T
n.3183C>T
n.3443C>T
 dbSNP
3g.47121382G>CCA352523178SETD2c.3122C>G (p.Pro1041Arg)
c.3155C>G (p.Pro1052Arg)
c.1134C>G
c.1195C>G
c.270C>G
c.1418C>G (p.Pro473Arg)
c.72-23301C>G (n.72-23301C>G)
c.3254C>G (p.Pro1085Arg)
c.2869C>G
c.2406C>G
c.2154C>G
c.3332C>G (p.Pro1111Arg)
c.3278C>G (p.Pro1093Arg)
n.3347C>G
n.3435C>G
n.3307C>G
n.3183C>G
n.3443C>G
 dbSNP
3g.47121382G>TCA352523180SETD2c.3122C>A (p.Pro1041His)
c.3155C>A (p.Pro1052His)
c.1134C>A
c.1195C>A
c.270C>A
c.1418C>A (p.Pro473His)
c.72-23301C>A (n.72-23301C>A)
c.3254C>A (p.Pro1085His)
c.2869C>A
c.2406C>A
c.2154C>A
c.3332C>A (p.Pro1111His)
c.3278C>A (p.Pro1093His)
n.3347C>A
n.3435C>A
n.3307C>A
n.3183C>A
n.3443C>A
 dbSNP
3g.47121383G>ACA352523182SETD2c.3121C>T (p.Pro1041Ser)
c.3154C>T (p.Pro1052Ser)
c.1133C>T
c.1194C>T
c.269C>T
c.1417C>T (p.Pro473Ser)
c.72-23302C>T (n.72-23302C>T)
c.3253C>T (p.Pro1085Ser)
c.2868C>T
c.2405C>T
c.2153C>T
c.3331C>T (p.Pro1111Ser)
c.3277C>T (p.Pro1093Ser)
n.3346C>T
n.3434C>T
n.3306C>T
n.3182C>T
n.3442C>T
 dbSNP
3g.47121383G>CCA352523183SETD2c.3121C>G (p.Pro1041Ala)
c.3154C>G (p.Pro1052Ala)
c.1133C>G
c.1194C>G
c.269C>G
c.1417C>G (p.Pro473Ala)
c.72-23302C>G (n.72-23302C>G)
c.3253C>G (p.Pro1085Ala)
c.2868C>G
c.2405C>G
c.2153C>G
c.3331C>G (p.Pro1111Ala)
c.3277C>G (p.Pro1093Ala)
n.3346C>G
n.3434C>G
n.3306C>G
n.3182C>G
n.3442C>G
 dbSNP
3g.47121383G>TCA352523185SETD2c.3121C>A (p.Pro1041Thr)
c.3154C>A (p.Pro1052Thr)
c.1133C>A
c.1194C>A
c.269C>A
c.1417C>A (p.Pro473Thr)
c.72-23302C>A (n.72-23302C>A)
c.3253C>A (p.Pro1085Thr)
c.2868C>A
c.2405C>A
c.2153C>A
c.3331C>A (p.Pro1111Thr)
c.3277C>A (p.Pro1093Thr)
n.3346C>A
n.3434C>A
n.3306C>A
n.3182C>A
n.3442C>A
 dbSNP
3g.47121384A>CCA352523186SETD2c.3120T>G (p.Ser1040Arg)
c.3153T>G (p.Ser1051Arg)
c.1132T>G
c.1193T>G
c.268T>G
c.1416T>G (p.Ser472Arg)
c.72-23303T>G (n.72-23303T>G)
c.3252T>G (p.Ser1084Arg)
c.2867T>G
c.2404T>G
c.2152T>G
c.3330T>G (p.Ser1110Arg)
c.3276T>G (p.Ser1092Arg)
n.3345T>G
n.3433T>G
n.3305T>G
n.3181T>G
n.3441T>G
 dbSNP
3g.47121384A>GCA433601124SETD2c.3120T>C (p.Ser1040=)
c.3153T>C (p.Ser1051=)
c.1132T>C
c.1193T>C
c.268T>C
c.1416T>C (p.Ser472=)
c.72-23303T>C (n.72-23303T>C)
c.3252T>C (p.Ser1084=)
c.2867T>C
c.2404T>C
c.2152T>C
c.3330T>C (p.Ser1110=)
c.3276T>C (p.Ser1092=)
n.3345T>C
n.3433T>C
n.3305T>C
n.3181T>C
n.3441T>C
 dbSNP
3g.47121384A>TCA352523187SETD2c.3120T>A (p.Ser1040Arg)
c.3153T>A (p.Ser1051Arg)
c.1132T>A
c.1193T>A
c.268T>A
c.1416T>A (p.Ser472Arg)
c.72-23303T>A (n.72-23303T>A)
c.3252T>A (p.Ser1084Arg)
c.2867T>A
c.2404T>A
c.2152T>A
c.3330T>A (p.Ser1110Arg)
c.3276T>A (p.Ser1092Arg)
n.3345T>A
n.3433T>A
n.3305T>A
n.3181T>A
n.3441T>A
 dbSNP
3g.47121385C>ACA352523188SETD2c.3119G>T (p.Ser1040Ile)
c.3152G>T (p.Ser1051Ile)
c.1131G>T
c.1192G>T
c.267G>T
c.1415G>T (p.Ser472Ile)
c.72-23304G>T (n.72-23304G>T)
c.3251G>T (p.Ser1084Ile)
c.2866G>T
c.2403G>T
c.2151G>T
c.3329G>T (p.Ser1110Ile)
c.3275G>T (p.Ser1092Ile)
n.3344G>T
n.3432G>T
n.3304G>T
n.3180G>T
n.3440G>T
3g.47121385C=CA1362408298SETD2c.3119G= (p.Ser1040=)
c.3152G= (p.Ser1051=)
c.1131G=
c.1192G=
c.267G=
c.1415G= (p.Ser472=)
c.72-23304G= (n.72-23304G=)
c.3251G= (p.Ser1084=)
c.2866G=
c.2403G=
c.2151G=
c.3329G= (p.Ser1110=)
c.3275G= (p.Ser1092=)
n.3344G=
n.3432G=
n.3304G=
n.3180G=
n.3440G=
3g.47121385C>GCA352523190SETD2c.3119G>C (p.Ser1040Thr)
c.3152G>C (p.Ser1051Thr)
c.1131G>C
c.1192G>C
c.267G>C
c.1415G>C (p.Ser472Thr)
c.72-23304G>C (n.72-23304G>C)
c.3251G>C (p.Ser1084Thr)
c.2866G>C
c.2403G>C
c.2151G>C
c.3329G>C (p.Ser1110Thr)
c.3275G>C (p.Ser1092Thr)
n.3344G>C
n.3432G>C
n.3304G>C
n.3180G>C
n.3440G>C
 dbSNP
3g.47121385C>TCA2363414SETD2c.3119G>A (p.Ser1040Asn)
c.3152G>A (p.Ser1051Asn)
c.1131G>A
c.1192G>A
c.267G>A
c.1415G>A (p.Ser472Asn)
c.72-23304G>A (n.72-23304G>A)
c.3251G>A (p.Ser1084Asn)
c.2866G>A
c.2403G>A
c.2151G>A
c.3329G>A (p.Ser1110Asn)
c.3275G>A (p.Ser1092Asn)
n.3344G>A
n.3432G>A
n.3304G>A
n.3180G>A
n.3440G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47121386T>ACA352523193SETD2c.3118A>T (p.Ser1040Cys)
c.3151A>T (p.Ser1051Cys)
c.1130A>T
c.1191A>T
c.266A>T
c.1414A>T (p.Ser472Cys)
c.72-23305A>T (n.72-23305A>T)
c.3250A>T (p.Ser1084Cys)
c.2865A>T
c.2402A>T
c.2150A>T
c.3328A>T (p.Ser1110Cys)
c.3274A>T (p.Ser1092Cys)
n.3343A>T
n.3431A>T
n.3303A>T
n.3179A>T
n.3439A>T
 dbSNP
3g.47121386T>CCA352523194SETD2c.3118A>G (p.Ser1040Gly)
c.3151A>G (p.Ser1051Gly)
c.1130A>G
c.1191A>G
c.266A>G
c.1414A>G (p.Ser472Gly)
c.72-23305A>G (n.72-23305A>G)
c.3250A>G (p.Ser1084Gly)
c.2865A>G
c.2402A>G
c.2150A>G
c.3328A>G (p.Ser1110Gly)
c.3274A>G (p.Ser1092Gly)
n.3343A>G
n.3431A>G
n.3303A>G
n.3179A>G
n.3439A>G
3g.47121386T>GCA352523195SETD2c.3118A>C (p.Ser1040Arg)
c.3151A>C (p.Ser1051Arg)
c.1130A>C
c.1191A>C
c.266A>C
c.1414A>C (p.Ser472Arg)
c.72-23305A>C (n.72-23305A>C)
c.3250A>C (p.Ser1084Arg)
c.2865A>C
c.2402A>C
c.2150A>C
c.3328A>C (p.Ser1110Arg)
c.3274A>C (p.Ser1092Arg)
n.3343A>C
n.3431A>C
n.3303A>C
n.3179A>C
n.3439A>C
 gnomAD v4
3g.47121387T>ACA433601132SETD2c.3117A>T (p.Thr1039=)
c.3150A>T (p.Thr1050=)
c.1129A>T
c.1190A>T
c.265A>T
c.1413A>T (p.Thr471=)
c.72-23306A>T (n.72-23306A>T)
c.3249A>T (p.Thr1083=)
c.2864A>T
c.2401A>T
c.2149A>T
c.3327A>T (p.Thr1109=)
c.3273A>T (p.Thr1091=)
n.3342A>T
n.3430A>T
n.3302A>T
n.3178A>T
n.3438A>T
 dbSNP
3g.47121387T>CCA433601137SETD2c.3117A>G (p.Thr1039=)
c.3150A>G (p.Thr1050=)
c.1129A>G
c.1190A>G
c.265A>G
c.1413A>G (p.Thr471=)
c.72-23306A>G (n.72-23306A>G)
c.3249A>G (p.Thr1083=)
c.2864A>G
c.2401A>G
c.2149A>G
c.3327A>G (p.Thr1109=)
c.3273A>G (p.Thr1091=)
n.3342A>G
n.3430A>G
n.3302A>G
n.3178A>G
n.3438A>G
 dbSNP gnomAD v4
3g.47121387T>GCA2363415SETD2c.3117A>C (p.Thr1039=)
c.3150A>C (p.Thr1050=)
c.1129A>C
c.1190A>C
c.265A>C
c.1413A>C (p.Thr471=)
c.72-23306A>C (n.72-23306A>C)
c.3249A>C (p.Thr1083=)
c.2864A>C
c.2401A>C
c.2149A>C
c.3327A>C (p.Thr1109=)
c.3273A>C (p.Thr1091=)
n.3342A>C
n.3430A>C
n.3302A>C
n.3178A>C
n.3438A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47121387T=CA1362408301SETD2c.3117A= (p.Thr1039=)
c.3150A= (p.Thr1050=)
c.1129A=
c.1190A=
c.265A=
c.1413A= (p.Thr471=)
c.72-23306A= (n.72-23306A=)
c.3249A= (p.Thr1083=)
c.2864A=
c.2401A=
c.2149A=
c.3327A= (p.Thr1109=)
c.3273A= (p.Thr1091=)
n.3342A=
n.3430A=
n.3302A=
n.3178A=
n.3438A=
3g.47121388G>ACA352523198SETD2c.3116C>T (p.Thr1039Ile)
c.3149C>T (p.Thr1050Ile)
c.1128C>T
c.1189C>T
c.264C>T
c.1412C>T (p.Thr471Ile)
c.72-23307C>T (n.72-23307C>T)
c.3248C>T (p.Thr1083Ile)
c.2863C>T
c.2400C>T
c.2148C>T
c.3326C>T (p.Thr1109Ile)
c.3272C>T (p.Thr1091Ile)
n.3341C>T
n.3429C>T
n.3301C>T
n.3177C>T
n.3437C>T
 dbSNP gnomAD v4
3g.47121388G>CCA352523199SETD2c.3116C>G (p.Thr1039Arg)
c.3149C>G (p.Thr1050Arg)
c.1128C>G
c.1189C>G
c.264C>G
c.1412C>G (p.Thr471Arg)
c.72-23307C>G (n.72-23307C>G)
c.3248C>G (p.Thr1083Arg)
c.2863C>G
c.2400C>G
c.2148C>G
c.3326C>G (p.Thr1109Arg)
c.3272C>G (p.Thr1091Arg)
n.3341C>G
n.3429C>G
n.3301C>G
n.3177C>G
n.3437C>G
3g.47121388G>TCA352523200SETD2c.3116C>A (p.Thr1039Lys)
c.3149C>A (p.Thr1050Lys)
c.1128C>A
c.1189C>A
c.264C>A
c.1412C>A (p.Thr471Lys)
c.72-23307C>A (n.72-23307C>A)
c.3248C>A (p.Thr1083Lys)
c.2863C>A
c.2400C>A
c.2148C>A
c.3326C>A (p.Thr1109Lys)
c.3272C>A (p.Thr1091Lys)
n.3341C>A
n.3429C>A
n.3301C>A
n.3177C>A
n.3437C>A
 dbSNP gnomAD v4
3g.47121389T>ACA352523202SETD2c.3115A>T (p.Thr1039Ser)
c.3148A>T (p.Thr1050Ser)
c.1127A>T
c.1188A>T
c.263A>T
c.1411A>T (p.Thr471Ser)
c.72-23308A>T (n.72-23308A>T)
c.3247A>T (p.Thr1083Ser)
c.2862A>T
c.2399A>T
c.2147A>T
c.3325A>T (p.Thr1109Ser)
c.3271A>T (p.Thr1091Ser)
n.3340A>T
n.3428A>T
n.3300A>T
n.3176A>T
n.3436A>T
 dbSNP
3g.47121389T>CCA2363417SETD2c.3115A>G (p.Thr1039Ala)
c.3148A>G (p.Thr1050Ala)
c.1127A>G
c.1188A>G
c.263A>G
c.1411A>G (p.Thr471Ala)
c.72-23308A>G (n.72-23308A>G)
c.3247A>G (p.Thr1083Ala)
c.2862A>G
c.2399A>G
c.2147A>G
c.3325A>G (p.Thr1109Ala)
c.3271A>G (p.Thr1091Ala)
n.3340A>G
n.3428A>G
n.3300A>G
n.3176A>G
n.3436A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47121389T>GCA352523204SETD2c.3115A>C (p.Thr1039Pro)
c.3148A>C (p.Thr1050Pro)
c.1127A>C
c.1188A>C
c.263A>C
c.1411A>C (p.Thr471Pro)
c.72-23308A>C (n.72-23308A>C)
c.3247A>C (p.Thr1083Pro)
c.2862A>C
c.2399A>C
c.2147A>C
c.3325A>C (p.Thr1109Pro)
c.3271A>C (p.Thr1091Pro)
n.3340A>C
n.3428A>C
n.3300A>C
n.3176A>C
n.3436A>C
 ClinVar dbSNP
3g.47121389T=CA1362408302SETD2c.3115A= (p.Thr1039=)
c.3148A= (p.Thr1050=)
c.1127A=
c.1188A=
c.263A=
c.1411A= (p.Thr471=)
c.72-23308A= (n.72-23308A=)
c.3247A= (p.Thr1083=)
c.2862A=
c.2399A=
c.2147A=
c.3325A= (p.Thr1109=)
c.3271A= (p.Thr1091=)
n.3340A=
n.3428A=
n.3300A=
n.3176A=
n.3436A=
3g.47121389_47121414delinsTTTCTTCCATGGGCAAAGTAGAATTCCA1362408303SETD2c.3090_3115delinsGAATTCTACTTTGCCCATGGAAGAAA (p.Lys1030=)
c.3123_3148delinsGAATTCTACTTTGCCCATGGAAGAAA (p.Lys1041=)
c.1102_1127delinsGAATTCTACTTTGCCCATGGAAGAAA
c.1163_1188delinsGAATTCTACTTTGCCCATGGAAGAAA
c.238_263delinsGAATTCTACTTTGCCCATGGAAGAAA
c.1386_1411delinsGAATTCTACTTTGCCCATGGAAGAAA (p.Lys462=)
c.72-23333_72-23308delinsGAATTCTACTTTGCCCATGGAAGAAA (n.72-23333_72-23308delinsGAATTCTACTTTGCCCATGGAAGAAA)
c.3222_3247delinsGAATTCTACTTTGCCCATGGAAGAAA (p.Lys1074=)
c.2837_2862delinsGAATTCTACTTTGCCCATGGAAGAAA
c.2374_2399delinsGAATTCTACTTTGCCCATGGAAGAAA
c.2122_2147delinsGAATTCTACTTTGCCCATGGAAGAAA
c.3300_3325delinsGAATTCTACTTTGCCCATGGAAGAAA (p.Lys1100=)
c.3246_3271delinsGAATTCTACTTTGCCCATGGAAGAAA (p.Lys1082=)
n.3315_3340delinsGAATTCTACTTTGCCCATGGAAGAAA
n.3403_3428delinsGAATTCTACTTTGCCCATGGAAGAAA
n.3275_3300delinsGAATTCTACTTTGCCCATGGAAGAAA
n.3151_3176delinsGAATTCTACTTTGCCCATGGAAGAAA
n.3411_3436delinsGAATTCTACTTTGCCCATGGAAGAAA
3g.47121390T>ACA352523207SETD2c.3114A>T (p.Glu1038Asp)
c.3147A>T (p.Glu1049Asp)
c.1126A>T
c.1187A>T
c.262A>T
c.1410A>T (p.Glu470Asp)
c.72-23309A>T (n.72-23309A>T)
c.3246A>T (p.Glu1082Asp)
c.2861A>T
c.2398A>T
c.2146A>T
c.3324A>T (p.Glu1108Asp)
c.3270A>T (p.Glu1090Asp)
n.3339A>T
n.3427A>T
n.3299A>T
n.3175A>T
n.3435A>T
 dbSNP
3g.47121390T>CCA2363418SETD2c.3114A>G (p.Glu1038=)
c.3147A>G (p.Glu1049=)
c.1126A>G
c.1187A>G
c.262A>G
c.1410A>G (p.Glu470=)
c.72-23309A>G (n.72-23309A>G)
c.3246A>G (p.Glu1082=)
c.2861A>G
c.2398A>G
c.2146A>G
c.3324A>G (p.Glu1108=)
c.3270A>G (p.Glu1090=)
n.3339A>G
n.3427A>G
n.3299A>G
n.3175A>G
n.3435A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47121390T>GCA352523209SETD2c.3114A>C (p.Glu1038Asp)
c.3147A>C (p.Glu1049Asp)
c.1126A>C
c.1187A>C
c.262A>C
c.1410A>C (p.Glu470Asp)
c.72-23309A>C (n.72-23309A>C)
c.3246A>C (p.Glu1082Asp)
c.2861A>C
c.2398A>C
c.2146A>C
c.3324A>C (p.Glu1108Asp)
c.3270A>C (p.Glu1090Asp)
n.3339A>C
n.3427A>C
n.3299A>C
n.3175A>C
n.3435A>C
 dbSNP
3g.47121390T=CA1362408305SETD2c.3114A= (p.Glu1038=)
c.3147A= (p.Glu1049=)
c.1126A=
c.1187A=
c.262A=
c.1410A= (p.Glu470=)
c.72-23309A= (n.72-23309A=)
c.3246A= (p.Glu1082=)
c.2861A=
c.2398A=
c.2146A=
c.3324A= (p.Glu1108=)
c.3270A= (p.Glu1090=)
n.3339A=
n.3427A=
n.3299A=
n.3175A=
n.3435A=
3g.47121392_47121416delCA2363416SETD2c.3090_3114del (p.Asn1031GlnfsTer?)
c.3123_3147del (p.Asn1042GlnfsTer?)
c.1102_1126del
c.1163_1187del
c.238_262del
c.1386_1410del (p.Asn463GlnfsTer?)
c.72-23333_72-23309del (n.72-23333_72-23309del)
c.3222_3246del (p.Asn1075GlnfsTer?)
c.2837_2861del
c.2374_2398del
c.2122_2146del
c.3300_3324del (p.Asn1101GlnfsTer?)
c.3246_3270del (p.Asn1083GlnfsTer?)
n.3315_3339del
n.3403_3427del
n.3275_3299del
n.3151_3175del
n.3411_3435del
 dbSNP ExAC gnomAD v2
3g.47121391T>ACA352523211SETD2c.3113A>T (p.Glu1038Val)
c.3146A>T (p.Glu1049Val)
c.1125A>T
c.1186A>T
c.261A>T
c.1409A>T (p.Glu470Val)
c.72-23310A>T (n.72-23310A>T)
c.3245A>T (p.Glu1082Val)
c.2860A>T
c.2397A>T
c.2145A>T
c.3323A>T (p.Glu1108Val)
c.3269A>T (p.Glu1090Val)
n.3338A>T
n.3426A>T
n.3298A>T
n.3174A>T
n.3434A>T
 dbSNP
3g.47121391T>CCA352523212SETD2c.3113A>G (p.Glu1038Gly)
c.3146A>G (p.Glu1049Gly)
c.1125A>G
c.1186A>G
c.261A>G
c.1409A>G (p.Glu470Gly)
c.72-23310A>G (n.72-23310A>G)
c.3245A>G (p.Glu1082Gly)
c.2860A>G
c.2397A>G
c.2145A>G
c.3323A>G (p.Glu1108Gly)
c.3269A>G (p.Glu1090Gly)
n.3338A>G
n.3426A>G
n.3298A>G
n.3174A>G
n.3434A>G
 dbSNP
3g.47121391T>GCA352523214SETD2c.3113A>C (p.Glu1038Ala)
c.3146A>C (p.Glu1049Ala)
c.1125A>C
c.1186A>C
c.261A>C
c.1409A>C (p.Glu470Ala)
c.72-23310A>C (n.72-23310A>C)
c.3245A>C (p.Glu1082Ala)
c.2860A>C
c.2397A>C
c.2145A>C
c.3323A>C (p.Glu1108Ala)
c.3269A>C (p.Glu1090Ala)
n.3338A>C
n.3426A>C
n.3298A>C
n.3174A>C
n.3434A>C
3g.47121392C>ACA352523218SETD2c.3112G>T (p.Glu1038Ter)
c.3145G>T (p.Glu1049Ter)
c.1124G>T
c.1185G>T
c.260G>T
c.1408G>T (p.Glu470Ter)
c.72-23311G>T (n.72-23311G>T)
c.3244G>T (p.Glu1082Ter)
c.2859G>T
c.2396G>T
c.2144G>T
c.3322G>T (p.Glu1108Ter)
c.3268G>T (p.Glu1090Ter)
n.3337G>T
n.3425G>T
n.3297G>T
n.3173G>T
n.3433G>T
 dbSNP
3g.47121392C=CA1362408306SETD2c.3112G= (p.Glu1038=)
c.3145G= (p.Glu1049=)
c.1124G=
c.1185G=
c.260G=
c.1408G= (p.Glu470=)
c.72-23311G= (n.72-23311G=)
c.3244G= (p.Glu1082=)
c.2859G=
c.2396G=
c.2144G=
c.3322G= (p.Glu1108=)
c.3268G= (p.Glu1090=)
n.3337G=
n.3425G=
n.3297G=
n.3173G=
n.3433G=
3g.47121392C>GCA352523217SETD2c.3112G>C (p.Glu1038Gln)
c.3145G>C (p.Glu1049Gln)
c.1124G>C
c.1185G>C
c.260G>C
c.1408G>C (p.Glu470Gln)
c.72-23311G>C (n.72-23311G>C)
c.3244G>C (p.Glu1082Gln)
c.2859G>C
c.2396G>C
c.2144G>C
c.3322G>C (p.Glu1108Gln)
c.3268G>C (p.Glu1090Gln)
n.3337G>C
n.3425G>C
n.3297G>C
n.3173G>C
n.3433G>C
 dbSNP
3g.47121392C>TCA2363419SETD2c.3112G>A (p.Glu1038Lys)
c.3145G>A (p.Glu1049Lys)
c.1124G>A
c.1185G>A
c.260G>A
c.1408G>A (p.Glu470Lys)
c.72-23311G>A (n.72-23311G>A)
c.3244G>A (p.Glu1082Lys)
c.2859G>A
c.2396G>A
c.2144G>A
c.3322G>A (p.Glu1108Lys)
c.3268G>A (p.Glu1090Lys)
n.3337G>A
n.3425G>A
n.3297G>A
n.3173G>A
n.3433G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47121393T>ACA352523221SETD2c.3111A>T (p.Glu1037Asp)
c.3144A>T (p.Glu1048Asp)
c.1123A>T
c.1184A>T
c.259A>T
c.1407A>T (p.Glu469Asp)
c.72-23312A>T (n.72-23312A>T)
c.3243A>T (p.Glu1081Asp)
c.2858A>T
c.2395A>T
c.2143A>T
c.3321A>T (p.Glu1107Asp)
c.3267A>T (p.Glu1089Asp)
n.3336A>T
n.3424A>T
n.3296A>T
n.3172A>T
n.3432A>T
 dbSNP
3g.47121393T>CCA433601166SETD2c.3111A>G (p.Glu1037=)
c.3144A>G (p.Glu1048=)
c.1123A>G
c.1184A>G
c.259A>G
c.1407A>G (p.Glu469=)
c.72-23312A>G (n.72-23312A>G)
c.3243A>G (p.Glu1081=)
c.2858A>G
c.2395A>G
c.2143A>G
c.3321A>G (p.Glu1107=)
c.3267A>G (p.Glu1089=)
n.3336A>G
n.3424A>G
n.3296A>G
n.3172A>G
n.3432A>G
 dbSNP gnomAD v4
3g.47121393T>GCA2363420SETD2c.3111A>C (p.Glu1037Asp)
c.3144A>C (p.Glu1048Asp)
c.1123A>C
c.1184A>C
c.259A>C
c.1407A>C (p.Glu469Asp)
c.72-23312A>C (n.72-23312A>C)
c.3243A>C (p.Glu1081Asp)
c.2858A>C
c.2395A>C
c.2143A>C
c.3321A>C (p.Glu1107Asp)
c.3267A>C (p.Glu1089Asp)
n.3336A>C
n.3424A>C
n.3296A>C
n.3172A>C
n.3432A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.47121393T=CA1362408310SETD2c.3111A= (p.Glu1037=)
c.3144A= (p.Glu1048=)
c.1123A=
c.1184A=
c.259A=
c.1407A= (p.Glu469=)
c.72-23312A= (n.72-23312A=)
c.3243A= (p.Glu1081=)
c.2858A=
c.2395A=
c.2143A=
c.3321A= (p.Glu1107=)
c.3267A= (p.Glu1089=)
n.3336A=
n.3424A=
n.3296A=
n.3172A=
n.3432A=
3g.47121394T>ACA352523226SETD2c.3110A>T (p.Glu1037Val)
c.3143A>T (p.Glu1048Val)
c.1122A>T
c.1183A>T
c.258A>T
c.1406A>T (p.Glu469Val)
c.72-23313A>T (n.72-23313A>T)
c.3242A>T (p.Glu1081Val)
c.2857A>T
c.2394A>T
c.2142A>T
c.3320A>T (p.Glu1107Val)
c.3266A>T (p.Glu1089Val)
n.3335A>T
n.3423A>T
n.3295A>T
n.3171A>T
n.3431A>T
 dbSNP
3g.47121394T>CCA352523223SETD2c.3110A>G (p.Glu1037Gly)
c.3143A>G (p.Glu1048Gly)
c.1122A>G
c.1183A>G
c.258A>G
c.1406A>G (p.Glu469Gly)
c.72-23313A>G (n.72-23313A>G)
c.3242A>G (p.Glu1081Gly)
c.2857A>G
c.2394A>G
c.2142A>G
c.3320A>G (p.Glu1107Gly)
c.3266A>G (p.Glu1089Gly)
n.3335A>G
n.3423A>G
n.3295A>G
n.3171A>G
n.3431A>G
3g.47121394T>GCA352523224SETD2c.3110A>C (p.Glu1037Ala)
c.3143A>C (p.Glu1048Ala)
c.1122A>C
c.1183A>C
c.258A>C
c.1406A>C (p.Glu469Ala)
c.72-23313A>C (n.72-23313A>C)
c.3242A>C (p.Glu1081Ala)
c.2857A>C
c.2394A>C
c.2142A>C
c.3320A>C (p.Glu1107Ala)
c.3266A>C (p.Glu1089Ala)
n.3335A>C
n.3423A>C
n.3295A>C
n.3171A>C
n.3431A>C
3g.47121395C>ACA352523228SETD2c.3109G>T (p.Glu1037Ter)
c.3142G>T (p.Glu1048Ter)
c.1121G>T
c.1182G>T
c.257G>T
c.1405G>T (p.Glu469Ter)
c.72-23314G>T (n.72-23314G>T)
c.3241G>T (p.Glu1081Ter)
c.2856G>T
c.2393G>T
c.2141G>T
c.3319G>T (p.Glu1107Ter)
c.3265G>T (p.Glu1089Ter)
n.3334G>T
n.3422G>T
n.3294G>T
n.3170G>T
n.3430G>T
 dbSNP
3g.47121395C=CA1362408314SETD2c.3109G= (p.Glu1037=)
c.3142G= (p.Glu1048=)
c.1121G=
c.1182G=
c.257G=
c.1405G= (p.Glu469=)
c.72-23314G= (n.72-23314G=)
c.3241G= (p.Glu1081=)
c.2856G=
c.2393G=
c.2141G=
c.3319G= (p.Glu1107=)
c.3265G= (p.Glu1089=)
n.3334G=
n.3422G=
n.3294G=
n.3170G=
n.3430G=
3g.47121395C>GCA352523230SETD2c.3109G>C (p.Glu1037Gln)
c.3142G>C (p.Glu1048Gln)
c.1121G>C
c.1182G>C
c.257G>C
c.1405G>C (p.Glu469Gln)
c.72-23314G>C (n.72-23314G>C)
c.3241G>C (p.Glu1081Gln)
c.2856G>C
c.2393G>C
c.2141G>C
c.3319G>C (p.Glu1107Gln)
c.3265G>C (p.Glu1089Gln)
n.3334G>C
n.3422G>C
n.3294G>C
n.3170G>C
n.3430G>C
 dbSNP
3g.47121395C>TCA352523231SETD2c.3109G>A (p.Glu1037Lys)
c.3142G>A (p.Glu1048Lys)
c.1121G>A
c.1182G>A
c.257G>A
c.1405G>A (p.Glu469Lys)
c.72-23314G>A (n.72-23314G>A)
c.3241G>A (p.Glu1081Lys)
c.2856G>A
c.2393G>A
c.2141G>A
c.3319G>A (p.Glu1107Lys)
c.3265G>A (p.Glu1089Lys)
n.3334G>A
n.3422G>A
n.3294G>A
n.3170G>A
n.3430G>A
 dbSNP gnomAD v3 gnomAD v4
3g.47121396C>ACA352523233SETD2c.3108G>T (p.Met1036Ile)
c.3141G>T (p.Met1047Ile)
c.1120G>T
c.1181G>T
c.256G>T
c.1404G>T (p.Met468Ile)
c.72-23315G>T (n.72-23315G>T)
c.3240G>T (p.Met1080Ile)
c.2855G>T
c.2392G>T
c.2140G>T
c.3318G>T (p.Met1106Ile)
c.3264G>T (p.Met1088Ile)
n.3333G>T
n.3421G>T
n.3293G>T
n.3169G>T
n.3429G>T
 COSMIC COSMIC
3g.47121396C=CA1362408325SETD2c.3108G= (p.Met1036=)
c.3141G= (p.Met1047=)
c.1120G=
c.1181G=
c.256G=
c.1404G= (p.Met468=)
c.72-23315G= (n.72-23315G=)
c.3240G= (p.Met1080=)
c.2855G=
c.2392G=
c.2140G=
c.3318G= (p.Met1106=)
c.3264G= (p.Met1088=)
n.3333G=
n.3421G=
n.3293G=
n.3169G=
n.3429G=
3g.47121396C>GCA352523235SETD2c.3108G>C (p.Met1036Ile)
c.3141G>C (p.Met1047Ile)
c.1120G>C
c.1181G>C
c.256G>C
c.1404G>C (p.Met468Ile)
c.72-23315G>C (n.72-23315G>C)
c.3240G>C (p.Met1080Ile)
c.2855G>C
c.2392G>C
c.2140G>C
c.3318G>C (p.Met1106Ile)
c.3264G>C (p.Met1088Ile)
n.3333G>C
n.3421G>C
n.3293G>C
n.3169G>C
n.3429G>C
3g.47121396C>TCA162098SETD2c.3108G>A (p.Met1036Ile)
c.3141G>A (p.Met1047Ile)
c.1120G>A
c.1181G>A
c.256G>A
c.1404G>A (p.Met468Ile)
c.72-23315G>A (n.72-23315G>A)
c.3240G>A (p.Met1080Ile)
c.2855G>A
c.2392G>A
c.2140G>A
c.3318G>A (p.Met1106Ile)
c.3264G>A (p.Met1088Ile)
n.3333G>A
n.3421G>A
n.3293G>A
n.3169G>A
n.3429G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched