Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.9475710_9475711delinsGA | CA1344742711 | SETD5 | n.2903_2904delinsGA c.4044_4045delinsGA (p.Gly1348=) n.4937_4938delinsGA n.2328_2329delinsGA n.6190_6191delinsGA c.3948_3949delinsGA (p.Gly1316=) c.*4094_*4095delinsGA (n.*4094_*4095delinsGA) c.*4017_*4018delinsGA (n.*4017_*4018delinsGA) c.*4322_*4323delinsGA (n.*4322_*4323delinsGA) c.*4053_*4054delinsGA (n.*4053_*4054delinsGA) c.3654_3655delinsGA (p.Gly1218=) c.2722+554_2722+555delinsGA c.4005_4006delinsGA (p.Gly1335=) c.2984_2985delinsGA n.3289_3290delinsGA n.4112_4113delinsGA c.4122_4123delinsGA (p.Gly1374=) c.4101_4102delinsGA (p.Gly1367=) c.4083_4084delinsGA (p.Gly1361=) c.4065_4066delinsGA (p.Gly1355=) c.4026_4027delinsGA (p.Gly1342=) c.3987_3988delinsGA (p.Gly1329=) c.3711_3712delinsGA (p.Gly1237=) c.3672_3673delinsGA (p.Gly1224=) c.4062_4063delinsGA (p.Gly1354=) c.3969_3970delinsGA (p.Gly1323=) c.3444_3445delinsGA (p.Gly1148=) c.3759_3760delinsGA (p.Gly1253=) n.8331_8332delinsGA | |
3 | g.9475711del | CA16618017 | SETD5 | n.2904del c.4045del (p.Thr1349HisfsTer?) n.4938del n.2329del n.6191del c.3949del (p.Thr1317HisfsTer?) c.*4095del (n.*4095del) c.*4018del (n.*4018del) c.*4323del (n.*4323del) c.*4054del (n.*4054del) c.3655del (p.Thr1219HisfsTer?) c.2722+555del c.4006del (p.Thr1336HisfsTer?) c.2985del n.3290del n.4113del c.4123del (p.Thr1375HisfsTer?) c.4102del (p.Thr1368HisfsTer?) c.4084del (p.Thr1362HisfsTer?) c.4066del (p.Thr1356HisfsTer?) c.4027del (p.Thr1343HisfsTer?) c.3988del (p.Thr1330HisfsTer?) c.3712del (p.Thr1238HisfsTer?) c.3673del (p.Thr1225HisfsTer?) c.4063del (p.Thr1355HisfsTer?) c.3970del (p.Thr1324HisfsTer?) c.3445del (p.Thr1149HisfsTer?) c.3760del (p.Thr1254HisfsTer?) n.8332del | ClinVar dbSNP |
3 | g.9475711A= | CA1344742715 | SETD5 | n.2904A= c.4045A= (p.Thr1349=) n.4938A= n.2329A= n.6191A= c.3949A= (p.Thr1317=) c.*4095A= (n.*4095A=) c.*4018A= (n.*4018A=) c.*4323A= (n.*4323A=) c.*4054A= (n.*4054A=) c.3655A= (p.Thr1219=) c.2722+555A= c.4006A= (p.Thr1336=) c.2985A= n.3290A= n.4113A= c.4123A= (p.Thr1375=) c.4102A= (p.Thr1368=) c.4084A= (p.Thr1362=) c.4066A= (p.Thr1356=) c.4027A= (p.Thr1343=) c.3988A= (p.Thr1330=) c.3712A= (p.Thr1238=) c.3673A= (p.Thr1225=) c.4063A= (p.Thr1355=) c.3970A= (p.Thr1324=) c.3445A= (p.Thr1149=) c.3760A= (p.Thr1254=) n.8332A= | |
3 | g.9475711A>C | CA351692953 | SETD5 | n.2904A>C c.4045A>C (p.Thr1349Pro) n.4938A>C n.2329A>C n.6191A>C c.3949A>C (p.Thr1317Pro) c.*4095A>C (n.*4095A>C) c.*4018A>C (n.*4018A>C) c.*4323A>C (n.*4323A>C) c.*4054A>C (n.*4054A>C) c.3655A>C (p.Thr1219Pro) c.2722+555A>C c.4006A>C (p.Thr1336Pro) c.2985A>C n.3290A>C n.4113A>C c.4123A>C (p.Thr1375Pro) c.4102A>C (p.Thr1368Pro) c.4084A>C (p.Thr1362Pro) c.4066A>C (p.Thr1356Pro) c.4027A>C (p.Thr1343Pro) c.3988A>C (p.Thr1330Pro) c.3712A>C (p.Thr1238Pro) c.3673A>C (p.Thr1225Pro) c.4063A>C (p.Thr1355Pro) c.3970A>C (p.Thr1324Pro) c.3445A>C (p.Thr1149Pro) c.3760A>C (p.Thr1254Pro) n.8332A>C | |
3 | g.9475711A>G | CA2239840 | SETD5 | n.2904A>G c.4045A>G (p.Thr1349Ala) n.4938A>G n.2329A>G n.6191A>G c.3949A>G (p.Thr1317Ala) c.*4095A>G (n.*4095A>G) c.*4018A>G (n.*4018A>G) c.*4323A>G (n.*4323A>G) c.*4054A>G (n.*4054A>G) c.3655A>G (p.Thr1219Ala) c.2722+555A>G c.4006A>G (p.Thr1336Ala) c.2985A>G n.3290A>G n.4113A>G c.4123A>G (p.Thr1375Ala) c.4102A>G (p.Thr1368Ala) c.4084A>G (p.Thr1362Ala) c.4066A>G (p.Thr1356Ala) c.4027A>G (p.Thr1343Ala) c.3988A>G (p.Thr1330Ala) c.3712A>G (p.Thr1238Ala) c.3673A>G (p.Thr1225Ala) c.4063A>G (p.Thr1355Ala) c.3970A>G (p.Thr1324Ala) c.3445A>G (p.Thr1149Ala) c.3760A>G (p.Thr1254Ala) n.8332A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.9475711A>T | CA351692965 | SETD5 | n.2904A>T c.4045A>T (p.Thr1349Ser) n.4938A>T n.2329A>T n.6191A>T c.3949A>T (p.Thr1317Ser) c.*4095A>T (n.*4095A>T) c.*4018A>T (n.*4018A>T) c.*4323A>T (n.*4323A>T) c.*4054A>T (n.*4054A>T) c.3655A>T (p.Thr1219Ser) c.2722+555A>T c.4006A>T (p.Thr1336Ser) c.2985A>T n.3290A>T n.4113A>T c.4123A>T (p.Thr1375Ser) c.4102A>T (p.Thr1368Ser) c.4084A>T (p.Thr1362Ser) c.4066A>T (p.Thr1356Ser) c.4027A>T (p.Thr1343Ser) c.3988A>T (p.Thr1330Ser) c.3712A>T (p.Thr1238Ser) c.3673A>T (p.Thr1225Ser) c.4063A>T (p.Thr1355Ser) c.3970A>T (p.Thr1324Ser) c.3445A>T (p.Thr1149Ser) c.3760A>T (p.Thr1254Ser) n.8332A>T | |
3 | g.9475712C>A | CA351692980 | SETD5 | n.2905C>A c.4046C>A (p.Thr1349Lys) n.4939C>A n.2330C>A n.6192C>A c.3950C>A (p.Thr1317Lys) c.*4096C>A (n.*4096C>A) c.*4019C>A (n.*4019C>A) c.*4324C>A (n.*4324C>A) c.*4055C>A (n.*4055C>A) c.3656C>A (p.Thr1219Lys) c.2722+556C>A c.4007C>A (p.Thr1336Lys) c.2986C>A n.3291C>A n.4114C>A c.4124C>A (p.Thr1375Lys) c.4103C>A (p.Thr1368Lys) c.4085C>A (p.Thr1362Lys) c.4067C>A (p.Thr1356Lys) c.4028C>A (p.Thr1343Lys) c.3989C>A (p.Thr1330Lys) c.3713C>A (p.Thr1238Lys) c.3674C>A (p.Thr1225Lys) c.4064C>A (p.Thr1355Lys) c.3971C>A (p.Thr1324Lys) c.3446C>A (p.Thr1149Lys) c.3761C>A (p.Thr1254Lys) n.8333C>A | |
3 | g.9475712C= | CA1344742722 | SETD5 | n.2905C= c.4046C= (p.Thr1349=) n.4939C= n.2330C= n.6192C= c.3950C= (p.Thr1317=) c.*4096C= (n.*4096C=) c.*4019C= (n.*4019C=) c.*4324C= (n.*4324C=) c.*4055C= (n.*4055C=) c.3656C= (p.Thr1219=) c.2722+556C= c.4007C= (p.Thr1336=) c.2986C= n.3291C= n.4114C= c.4124C= (p.Thr1375=) c.4103C= (p.Thr1368=) c.4085C= (p.Thr1362=) c.4067C= (p.Thr1356=) c.4028C= (p.Thr1343=) c.3989C= (p.Thr1330=) c.3713C= (p.Thr1238=) c.3674C= (p.Thr1225=) c.4064C= (p.Thr1355=) c.3971C= (p.Thr1324=) c.3446C= (p.Thr1149=) c.3761C= (p.Thr1254=) n.8333C= | |
3 | g.9475712C>G | CA351692988 | SETD5 | n.2905C>G c.4046C>G (p.Thr1349Arg) n.4939C>G n.2330C>G n.6192C>G c.3950C>G (p.Thr1317Arg) c.*4096C>G (n.*4096C>G) c.*4019C>G (n.*4019C>G) c.*4324C>G (n.*4324C>G) c.*4055C>G (n.*4055C>G) c.3656C>G (p.Thr1219Arg) c.2722+556C>G c.4007C>G (p.Thr1336Arg) c.2986C>G n.3291C>G n.4114C>G c.4124C>G (p.Thr1375Arg) c.4103C>G (p.Thr1368Arg) c.4085C>G (p.Thr1362Arg) c.4067C>G (p.Thr1356Arg) c.4028C>G (p.Thr1343Arg) c.3989C>G (p.Thr1330Arg) c.3713C>G (p.Thr1238Arg) c.3674C>G (p.Thr1225Arg) c.4064C>G (p.Thr1355Arg) c.3971C>G (p.Thr1324Arg) c.3446C>G (p.Thr1149Arg) c.3761C>G (p.Thr1254Arg) n.8333C>G | |
3 | g.9475712C>T | CA351692983 | SETD5 | n.2905C>T c.4046C>T (p.Thr1349Ile) n.4939C>T n.2330C>T n.6192C>T c.3950C>T (p.Thr1317Ile) c.*4096C>T (n.*4096C>T) c.*4019C>T (n.*4019C>T) c.*4324C>T (n.*4324C>T) c.*4055C>T (n.*4055C>T) c.3656C>T (p.Thr1219Ile) c.2722+556C>T c.4007C>T (p.Thr1336Ile) c.2986C>T n.3291C>T n.4114C>T c.4124C>T (p.Thr1375Ile) c.4103C>T (p.Thr1368Ile) c.4085C>T (p.Thr1362Ile) c.4067C>T (p.Thr1356Ile) c.4028C>T (p.Thr1343Ile) c.3989C>T (p.Thr1330Ile) c.3713C>T (p.Thr1238Ile) c.3674C>T (p.Thr1225Ile) c.4064C>T (p.Thr1355Ile) c.3971C>T (p.Thr1324Ile) c.3446C>T (p.Thr1149Ile) c.3761C>T (p.Thr1254Ile) n.8333C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475713A= | CA1344742727 | SETD5 | n.2906A= c.4047A= (p.Thr1349=) n.4940A= n.2331A= n.6193A= c.3951A= (p.Thr1317=) c.*4097A= (n.*4097A=) c.*4020A= (n.*4020A=) c.*4325A= (n.*4325A=) c.*4056A= (n.*4056A=) c.3657A= (p.Thr1219=) c.2722+557A= c.4008A= (p.Thr1336=) c.2987A= n.3292A= n.4115A= c.4125A= (p.Thr1375=) c.4104A= (p.Thr1368=) c.4086A= (p.Thr1362=) c.4068A= (p.Thr1356=) c.4029A= (p.Thr1343=) c.3990A= (p.Thr1330=) c.3714A= (p.Thr1238=) c.3675A= (p.Thr1225=) c.4065A= (p.Thr1355=) c.3972A= (p.Thr1324=) c.3447A= (p.Thr1149=) c.3762A= (p.Thr1254=) n.8334A= | |
3 | g.9475713A>C | CA432528963 | SETD5 | n.2906A>C c.4047A>C (p.Thr1349=) n.4940A>C n.2331A>C n.6193A>C c.3951A>C (p.Thr1317=) c.*4097A>C (n.*4097A>C) c.*4020A>C (n.*4020A>C) c.*4325A>C (n.*4325A>C) c.*4056A>C (n.*4056A>C) c.3657A>C (p.Thr1219=) c.2722+557A>C c.4008A>C (p.Thr1336=) c.2987A>C n.3292A>C n.4115A>C c.4125A>C (p.Thr1375=) c.4104A>C (p.Thr1368=) c.4086A>C (p.Thr1362=) c.4068A>C (p.Thr1356=) c.4029A>C (p.Thr1343=) c.3990A>C (p.Thr1330=) c.3714A>C (p.Thr1238=) c.3675A>C (p.Thr1225=) c.4065A>C (p.Thr1355=) c.3972A>C (p.Thr1324=) c.3447A>C (p.Thr1149=) c.3762A>C (p.Thr1254=) n.8334A>C | dbSNP |
3 | g.9475713A>G | CA432528968 | SETD5 | n.2906A>G c.4047A>G (p.Thr1349=) n.4940A>G n.2331A>G n.6193A>G c.3951A>G (p.Thr1317=) c.*4097A>G (n.*4097A>G) c.*4020A>G (n.*4020A>G) c.*4325A>G (n.*4325A>G) c.*4056A>G (n.*4056A>G) c.3657A>G (p.Thr1219=) c.2722+557A>G c.4008A>G (p.Thr1336=) c.2987A>G n.3292A>G n.4115A>G c.4125A>G (p.Thr1375=) c.4104A>G (p.Thr1368=) c.4086A>G (p.Thr1362=) c.4068A>G (p.Thr1356=) c.4029A>G (p.Thr1343=) c.3990A>G (p.Thr1330=) c.3714A>G (p.Thr1238=) c.3675A>G (p.Thr1225=) c.4065A>G (p.Thr1355=) c.3972A>G (p.Thr1324=) c.3447A>G (p.Thr1149=) c.3762A>G (p.Thr1254=) n.8334A>G | |
3 | g.9475713A>T | CA432528966 | SETD5 | n.2906A>T c.4047A>T (p.Thr1349=) n.4940A>T n.2331A>T n.6193A>T c.3951A>T (p.Thr1317=) c.*4097A>T (n.*4097A>T) c.*4020A>T (n.*4020A>T) c.*4325A>T (n.*4325A>T) c.*4056A>T (n.*4056A>T) c.3657A>T (p.Thr1219=) c.2722+557A>T c.4008A>T (p.Thr1336=) c.2987A>T n.3292A>T n.4115A>T c.4125A>T (p.Thr1375=) c.4104A>T (p.Thr1368=) c.4086A>T (p.Thr1362=) c.4068A>T (p.Thr1356=) c.4029A>T (p.Thr1343=) c.3990A>T (p.Thr1330=) c.3714A>T (p.Thr1238=) c.3675A>T (p.Thr1225=) c.4065A>T (p.Thr1355=) c.3972A>T (p.Thr1324=) c.3447A>T (p.Thr1149=) c.3762A>T (p.Thr1254=) n.8334A>T | |
3 | g.9475714C>A | CA351692993 | SETD5 | n.2907C>A c.4048C>A (p.Pro1350Thr) n.4941C>A n.2332C>A n.6194C>A c.3952C>A (p.Pro1318Thr) c.*4098C>A (n.*4098C>A) c.*4021C>A (n.*4021C>A) c.*4326C>A (n.*4326C>A) c.*4057C>A (n.*4057C>A) c.3658C>A (p.Pro1220Thr) c.2722+558C>A c.4009C>A (p.Pro1337Thr) c.2988C>A n.3293C>A n.4116C>A c.4126C>A (p.Pro1376Thr) c.4105C>A (p.Pro1369Thr) c.4087C>A (p.Pro1363Thr) c.4069C>A (p.Pro1357Thr) c.4030C>A (p.Pro1344Thr) c.3991C>A (p.Pro1331Thr) c.3715C>A (p.Pro1239Thr) c.3676C>A (p.Pro1226Thr) c.4066C>A (p.Pro1356Thr) c.3973C>A (p.Pro1325Thr) c.3448C>A (p.Pro1150Thr) c.3763C>A (p.Pro1255Thr) n.8335C>A | |
3 | g.9475714C>G | CA351692995 | SETD5 | n.2907C>G c.4048C>G (p.Pro1350Ala) n.4941C>G n.2332C>G n.6194C>G c.3952C>G (p.Pro1318Ala) c.*4098C>G (n.*4098C>G) c.*4021C>G (n.*4021C>G) c.*4326C>G (n.*4326C>G) c.*4057C>G (n.*4057C>G) c.3658C>G (p.Pro1220Ala) c.2722+558C>G c.4009C>G (p.Pro1337Ala) c.2988C>G n.3293C>G n.4116C>G c.4126C>G (p.Pro1376Ala) c.4105C>G (p.Pro1369Ala) c.4087C>G (p.Pro1363Ala) c.4069C>G (p.Pro1357Ala) c.4030C>G (p.Pro1344Ala) c.3991C>G (p.Pro1331Ala) c.3715C>G (p.Pro1239Ala) c.3676C>G (p.Pro1226Ala) c.4066C>G (p.Pro1356Ala) c.3973C>G (p.Pro1325Ala) c.3448C>G (p.Pro1150Ala) c.3763C>G (p.Pro1255Ala) n.8335C>G | |
3 | g.9475714C>T | CA351692996 | SETD5 | n.2907C>T c.4048C>T (p.Pro1350Ser) n.4941C>T n.2332C>T n.6194C>T c.3952C>T (p.Pro1318Ser) c.*4098C>T (n.*4098C>T) c.*4021C>T (n.*4021C>T) c.*4326C>T (n.*4326C>T) c.*4057C>T (n.*4057C>T) c.3658C>T (p.Pro1220Ser) c.2722+558C>T c.4009C>T (p.Pro1337Ser) c.2988C>T n.3293C>T n.4116C>T c.4126C>T (p.Pro1376Ser) c.4105C>T (p.Pro1369Ser) c.4087C>T (p.Pro1363Ser) c.4069C>T (p.Pro1357Ser) c.4030C>T (p.Pro1344Ser) c.3991C>T (p.Pro1331Ser) c.3715C>T (p.Pro1239Ser) c.3676C>T (p.Pro1226Ser) c.4066C>T (p.Pro1356Ser) c.3973C>T (p.Pro1325Ser) c.3448C>T (p.Pro1150Ser) c.3763C>T (p.Pro1255Ser) n.8335C>T | gnomAD v4 |
3 | g.9475715C>A | CA351692998 | SETD5 | n.2908C>A c.4049C>A (p.Pro1350Gln) n.4942C>A n.2333C>A n.6195C>A c.3953C>A (p.Pro1318Gln) c.*4099C>A (n.*4099C>A) c.*4022C>A (n.*4022C>A) c.*4327C>A (n.*4327C>A) c.*4058C>A (n.*4058C>A) c.3659C>A (p.Pro1220Gln) c.2722+559C>A c.4010C>A (p.Pro1337Gln) c.2989C>A n.3294C>A n.4117C>A c.4127C>A (p.Pro1376Gln) c.4106C>A (p.Pro1369Gln) c.4088C>A (p.Pro1363Gln) c.4070C>A (p.Pro1357Gln) c.4031C>A (p.Pro1344Gln) c.3992C>A (p.Pro1331Gln) c.3716C>A (p.Pro1239Gln) c.3677C>A (p.Pro1226Gln) c.4067C>A (p.Pro1356Gln) c.3974C>A (p.Pro1325Gln) c.3449C>A (p.Pro1150Gln) c.3764C>A (p.Pro1255Gln) n.8336C>A | |
3 | g.9475715C= | CA1344742732 | SETD5 | n.2908C= c.4049C= (p.Pro1350=) n.4942C= n.2333C= n.6195C= c.3953C= (p.Pro1318=) c.*4099C= (n.*4099C=) c.*4022C= (n.*4022C=) c.*4327C= (n.*4327C=) c.*4058C= (n.*4058C=) c.3659C= (p.Pro1220=) c.2722+559C= c.4010C= (p.Pro1337=) c.2989C= n.3294C= n.4117C= c.4127C= (p.Pro1376=) c.4106C= (p.Pro1369=) c.4088C= (p.Pro1363=) c.4070C= (p.Pro1357=) c.4031C= (p.Pro1344=) c.3992C= (p.Pro1331=) c.3716C= (p.Pro1239=) c.3677C= (p.Pro1226=) c.4067C= (p.Pro1356=) c.3974C= (p.Pro1325=) c.3449C= (p.Pro1150=) c.3764C= (p.Pro1255=) n.8336C= | |
3 | g.9475715C>G | CA351693002 | SETD5 | n.2908C>G c.4049C>G (p.Pro1350Arg) n.4942C>G n.2333C>G n.6195C>G c.3953C>G (p.Pro1318Arg) c.*4099C>G (n.*4099C>G) c.*4022C>G (n.*4022C>G) c.*4327C>G (n.*4327C>G) c.*4058C>G (n.*4058C>G) c.3659C>G (p.Pro1220Arg) c.2722+559C>G c.4010C>G (p.Pro1337Arg) c.2989C>G n.3294C>G n.4117C>G c.4127C>G (p.Pro1376Arg) c.4106C>G (p.Pro1369Arg) c.4088C>G (p.Pro1363Arg) c.4070C>G (p.Pro1357Arg) c.4031C>G (p.Pro1344Arg) c.3992C>G (p.Pro1331Arg) c.3716C>G (p.Pro1239Arg) c.3677C>G (p.Pro1226Arg) c.4067C>G (p.Pro1356Arg) c.3974C>G (p.Pro1325Arg) c.3449C>G (p.Pro1150Arg) c.3764C>G (p.Pro1255Arg) n.8336C>G | ClinVar dbSNP gnomAD v4 |
3 | g.9475715C>T | CA351693005 | SETD5 | n.2908C>T c.4049C>T (p.Pro1350Leu) n.4942C>T n.2333C>T n.6195C>T c.3953C>T (p.Pro1318Leu) c.*4099C>T (n.*4099C>T) c.*4022C>T (n.*4022C>T) c.*4327C>T (n.*4327C>T) c.*4058C>T (n.*4058C>T) c.3659C>T (p.Pro1220Leu) c.2722+559C>T c.4010C>T (p.Pro1337Leu) c.2989C>T n.3294C>T n.4117C>T c.4127C>T (p.Pro1376Leu) c.4106C>T (p.Pro1369Leu) c.4088C>T (p.Pro1363Leu) c.4070C>T (p.Pro1357Leu) c.4031C>T (p.Pro1344Leu) c.3992C>T (p.Pro1331Leu) c.3716C>T (p.Pro1239Leu) c.3677C>T (p.Pro1226Leu) c.4067C>T (p.Pro1356Leu) c.3974C>T (p.Pro1325Leu) c.3449C>T (p.Pro1150Leu) c.3764C>T (p.Pro1255Leu) n.8336C>T | |
3 | g.9475716A>C | CA432528378 | SETD5 | n.2909A>C c.4050A>C (p.Pro1350=) n.4943A>C n.2334A>C n.6196A>C c.3954A>C (p.Pro1318=) c.*4100A>C (n.*4100A>C) c.*4023A>C (n.*4023A>C) c.*4328A>C (n.*4328A>C) c.*4059A>C (n.*4059A>C) c.3660A>C (p.Pro1220=) c.2722+560A>C c.4011A>C (p.Pro1337=) c.2990A>C n.3295A>C n.4118A>C c.4128A>C (p.Pro1376=) c.4107A>C (p.Pro1369=) c.4089A>C (p.Pro1363=) c.4071A>C (p.Pro1357=) c.4032A>C (p.Pro1344=) c.3993A>C (p.Pro1331=) c.3717A>C (p.Pro1239=) c.3678A>C (p.Pro1226=) c.4068A>C (p.Pro1356=) c.3975A>C (p.Pro1325=) c.3450A>C (p.Pro1150=) c.3765A>C (p.Pro1255=) n.8337A>C | |
3 | g.9475716A>G | CA432528379 | SETD5 | n.2909A>G c.4050A>G (p.Pro1350=) n.4943A>G n.2334A>G n.6196A>G c.3954A>G (p.Pro1318=) c.*4100A>G (n.*4100A>G) c.*4023A>G (n.*4023A>G) c.*4328A>G (n.*4328A>G) c.*4059A>G (n.*4059A>G) c.3660A>G (p.Pro1220=) c.2722+560A>G c.4011A>G (p.Pro1337=) c.2990A>G n.3295A>G n.4118A>G c.4128A>G (p.Pro1376=) c.4107A>G (p.Pro1369=) c.4089A>G (p.Pro1363=) c.4071A>G (p.Pro1357=) c.4032A>G (p.Pro1344=) c.3993A>G (p.Pro1331=) c.3717A>G (p.Pro1239=) c.3678A>G (p.Pro1226=) c.4068A>G (p.Pro1356=) c.3975A>G (p.Pro1325=) c.3450A>G (p.Pro1150=) c.3765A>G (p.Pro1255=) n.8337A>G | gnomAD v4 |
3 | g.9475716A>T | CA432528380 | SETD5 | n.2909A>T c.4050A>T (p.Pro1350=) n.4943A>T n.2334A>T n.6196A>T c.3954A>T (p.Pro1318=) c.*4100A>T (n.*4100A>T) c.*4023A>T (n.*4023A>T) c.*4328A>T (n.*4328A>T) c.*4059A>T (n.*4059A>T) c.3660A>T (p.Pro1220=) c.2722+560A>T c.4011A>T (p.Pro1337=) c.2990A>T n.3295A>T n.4118A>T c.4128A>T (p.Pro1376=) c.4107A>T (p.Pro1369=) c.4089A>T (p.Pro1363=) c.4071A>T (p.Pro1357=) c.4032A>T (p.Pro1344=) c.3993A>T (p.Pro1331=) c.3717A>T (p.Pro1239=) c.3678A>T (p.Pro1226=) c.4068A>T (p.Pro1356=) c.3975A>T (p.Pro1325=) c.3450A>T (p.Pro1150=) c.3765A>T (p.Pro1255=) n.8337A>T | |
3 | g.9475717G>A | CA351693030 | SETD5 | n.2910G>A c.4051G>A (p.Gly1351Arg) n.4944G>A n.2335G>A n.6197G>A c.3955G>A (p.Gly1319Arg) c.*4101G>A (n.*4101G>A) c.*4024G>A (n.*4024G>A) c.*4329G>A (n.*4329G>A) c.*4060G>A (n.*4060G>A) c.3661G>A (p.Gly1221Arg) c.2722+561G>A c.4012G>A (p.Gly1338Arg) c.2991G>A n.3296G>A n.4119G>A c.4129G>A (p.Gly1377Arg) c.4108G>A (p.Gly1370Arg) c.4090G>A (p.Gly1364Arg) c.4072G>A (p.Gly1358Arg) c.4033G>A (p.Gly1345Arg) c.3994G>A (p.Gly1332Arg) c.3718G>A (p.Gly1240Arg) c.3679G>A (p.Gly1227Arg) c.4069G>A (p.Gly1357Arg) c.3976G>A (p.Gly1326Arg) c.3451G>A (p.Gly1151Arg) c.3766G>A (p.Gly1256Arg) n.8338G>A | gnomAD v4 |
3 | g.9475717G>C | CA351693050 | SETD5 | n.2910G>C c.4051G>C (p.Gly1351Arg) n.4944G>C n.2335G>C n.6197G>C c.3955G>C (p.Gly1319Arg) c.*4101G>C (n.*4101G>C) c.*4024G>C (n.*4024G>C) c.*4329G>C (n.*4329G>C) c.*4060G>C (n.*4060G>C) c.3661G>C (p.Gly1221Arg) c.2722+561G>C c.4012G>C (p.Gly1338Arg) c.2991G>C n.3296G>C n.4119G>C c.4129G>C (p.Gly1377Arg) c.4108G>C (p.Gly1370Arg) c.4090G>C (p.Gly1364Arg) c.4072G>C (p.Gly1358Arg) c.4033G>C (p.Gly1345Arg) c.3994G>C (p.Gly1332Arg) c.3718G>C (p.Gly1240Arg) c.3679G>C (p.Gly1227Arg) c.4069G>C (p.Gly1357Arg) c.3976G>C (p.Gly1326Arg) c.3451G>C (p.Gly1151Arg) c.3766G>C (p.Gly1256Arg) n.8338G>C | gnomAD v4 |
3 | g.9475717G>T | CA351693054 | SETD5 | n.2910G>T c.4051G>T (p.Gly1351Trp) n.4944G>T n.2335G>T n.6197G>T c.3955G>T (p.Gly1319Trp) c.*4101G>T (n.*4101G>T) c.*4024G>T (n.*4024G>T) c.*4329G>T (n.*4329G>T) c.*4060G>T (n.*4060G>T) c.3661G>T (p.Gly1221Trp) c.2722+561G>T c.4012G>T (p.Gly1338Trp) c.2991G>T n.3296G>T n.4119G>T c.4129G>T (p.Gly1377Trp) c.4108G>T (p.Gly1370Trp) c.4090G>T (p.Gly1364Trp) c.4072G>T (p.Gly1358Trp) c.4033G>T (p.Gly1345Trp) c.3994G>T (p.Gly1332Trp) c.3718G>T (p.Gly1240Trp) c.3679G>T (p.Gly1227Trp) c.4069G>T (p.Gly1357Trp) c.3976G>T (p.Gly1326Trp) c.3451G>T (p.Gly1151Trp) c.3766G>T (p.Gly1256Trp) n.8338G>T | |
3 | g.9475718G>A | CA351693060 | SETD5 | n.2911G>A c.4052G>A (p.Gly1351Glu) n.4945G>A n.2336G>A n.6198G>A c.3956G>A (p.Gly1319Glu) c.*4102G>A (n.*4102G>A) c.*4025G>A (n.*4025G>A) c.*4330G>A (n.*4330G>A) c.*4061G>A (n.*4061G>A) c.3662G>A (p.Gly1221Glu) c.2722+562G>A c.4013G>A (p.Gly1338Glu) c.2992G>A n.3297G>A n.4120G>A c.4130G>A (p.Gly1377Glu) c.4109G>A (p.Gly1370Glu) c.4091G>A (p.Gly1364Glu) c.4073G>A (p.Gly1358Glu) c.4034G>A (p.Gly1345Glu) c.3995G>A (p.Gly1332Glu) c.3719G>A (p.Gly1240Glu) c.3680G>A (p.Gly1227Glu) c.4070G>A (p.Gly1357Glu) c.3977G>A (p.Gly1326Glu) c.3452G>A (p.Gly1151Glu) c.3767G>A (p.Gly1256Glu) n.8339G>A | ClinVar dbSNP |
3 | g.9475718G>C | CA351693063 | SETD5 | n.2911G>C c.4052G>C (p.Gly1351Ala) n.4945G>C n.2336G>C n.6198G>C c.3956G>C (p.Gly1319Ala) c.*4102G>C (n.*4102G>C) c.*4025G>C (n.*4025G>C) c.*4330G>C (n.*4330G>C) c.*4061G>C (n.*4061G>C) c.3662G>C (p.Gly1221Ala) c.2722+562G>C c.4013G>C (p.Gly1338Ala) c.2992G>C n.3297G>C n.4120G>C c.4130G>C (p.Gly1377Ala) c.4109G>C (p.Gly1370Ala) c.4091G>C (p.Gly1364Ala) c.4073G>C (p.Gly1358Ala) c.4034G>C (p.Gly1345Ala) c.3995G>C (p.Gly1332Ala) c.3719G>C (p.Gly1240Ala) c.3680G>C (p.Gly1227Ala) c.4070G>C (p.Gly1357Ala) c.3977G>C (p.Gly1326Ala) c.3452G>C (p.Gly1151Ala) c.3767G>C (p.Gly1256Ala) n.8339G>C | |
3 | g.9475718G= | CA1344742735 | SETD5 | n.2911G= c.4052G= (p.Gly1351=) n.4945G= n.2336G= n.6198G= c.3956G= (p.Gly1319=) c.*4102G= (n.*4102G=) c.*4025G= (n.*4025G=) c.*4330G= (n.*4330G=) c.*4061G= (n.*4061G=) c.3662G= (p.Gly1221=) c.2722+562G= c.4013G= (p.Gly1338=) c.2992G= n.3297G= n.4120G= c.4130G= (p.Gly1377=) c.4109G= (p.Gly1370=) c.4091G= (p.Gly1364=) c.4073G= (p.Gly1358=) c.4034G= (p.Gly1345=) c.3995G= (p.Gly1332=) c.3719G= (p.Gly1240=) c.3680G= (p.Gly1227=) c.4070G= (p.Gly1357=) c.3977G= (p.Gly1326=) c.3452G= (p.Gly1151=) c.3767G= (p.Gly1256=) n.8339G= | |
3 | g.9475718G>T | CA351693064 | SETD5 | n.2911G>T c.4052G>T (p.Gly1351Val) n.4945G>T n.2336G>T n.6198G>T c.3956G>T (p.Gly1319Val) c.*4102G>T (n.*4102G>T) c.*4025G>T (n.*4025G>T) c.*4330G>T (n.*4330G>T) c.*4061G>T (n.*4061G>T) c.3662G>T (p.Gly1221Val) c.2722+562G>T c.4013G>T (p.Gly1338Val) c.2992G>T n.3297G>T n.4120G>T c.4130G>T (p.Gly1377Val) c.4109G>T (p.Gly1370Val) c.4091G>T (p.Gly1364Val) c.4073G>T (p.Gly1358Val) c.4034G>T (p.Gly1345Val) c.3995G>T (p.Gly1332Val) c.3719G>T (p.Gly1240Val) c.3680G>T (p.Gly1227Val) c.4070G>T (p.Gly1357Val) c.3977G>T (p.Gly1326Val) c.3452G>T (p.Gly1151Val) c.3767G>T (p.Gly1256Val) n.8339G>T | |
3 | g.9475719G>A | CA432528384 | SETD5 | n.2912G>A c.4053G>A (p.Gly1351=) n.4946G>A n.2337G>A n.6199G>A c.3957G>A (p.Gly1319=) c.*4103G>A (n.*4103G>A) c.*4026G>A (n.*4026G>A) c.*4331G>A (n.*4331G>A) c.*4062G>A (n.*4062G>A) c.3663G>A (p.Gly1221=) c.2722+563G>A c.4014G>A (p.Gly1338=) c.2993G>A n.3298G>A n.4121G>A c.4131G>A (p.Gly1377=) c.4110G>A (p.Gly1370=) c.4092G>A (p.Gly1364=) c.4074G>A (p.Gly1358=) c.4035G>A (p.Gly1345=) c.3996G>A (p.Gly1332=) c.3720G>A (p.Gly1240=) c.3681G>A (p.Gly1227=) c.4071G>A (p.Gly1357=) c.3978G>A (p.Gly1326=) c.3453G>A (p.Gly1151=) c.3768G>A (p.Gly1256=) n.8340G>A | gnomAD v4 |
3 | g.9475719G>C | CA432528385 | SETD5 | n.2912G>C c.4053G>C (p.Gly1351=) n.4946G>C n.2337G>C n.6199G>C c.3957G>C (p.Gly1319=) c.*4103G>C (n.*4103G>C) c.*4026G>C (n.*4026G>C) c.*4331G>C (n.*4331G>C) c.*4062G>C (n.*4062G>C) c.3663G>C (p.Gly1221=) c.2722+563G>C c.4014G>C (p.Gly1338=) c.2993G>C n.3298G>C n.4121G>C c.4131G>C (p.Gly1377=) c.4110G>C (p.Gly1370=) c.4092G>C (p.Gly1364=) c.4074G>C (p.Gly1358=) c.4035G>C (p.Gly1345=) c.3996G>C (p.Gly1332=) c.3720G>C (p.Gly1240=) c.3681G>C (p.Gly1227=) c.4071G>C (p.Gly1357=) c.3978G>C (p.Gly1326=) c.3453G>C (p.Gly1151=) c.3768G>C (p.Gly1256=) n.8340G>C | |
3 | g.9475719G>T | CA432528386 | SETD5 | n.2912G>T c.4053G>T (p.Gly1351=) n.4946G>T n.2337G>T n.6199G>T c.3957G>T (p.Gly1319=) c.*4103G>T (n.*4103G>T) c.*4026G>T (n.*4026G>T) c.*4331G>T (n.*4331G>T) c.*4062G>T (n.*4062G>T) c.3663G>T (p.Gly1221=) c.2722+563G>T c.4014G>T (p.Gly1338=) c.2993G>T n.3298G>T n.4121G>T c.4131G>T (p.Gly1377=) c.4110G>T (p.Gly1370=) c.4092G>T (p.Gly1364=) c.4074G>T (p.Gly1358=) c.4035G>T (p.Gly1345=) c.3996G>T (p.Gly1332=) c.3720G>T (p.Gly1240=) c.3681G>T (p.Gly1227=) c.4071G>T (p.Gly1357=) c.3978G>T (p.Gly1326=) c.3453G>T (p.Gly1151=) c.3768G>T (p.Gly1256=) n.8340G>T | |
3 | g.9475720T>A | CA351693091 | SETD5 | n.2913T>A c.4054T>A (p.Tyr1352Asn) n.4947T>A n.2338T>A n.6200T>A c.3958T>A (p.Tyr1320Asn) c.*4104T>A (n.*4104T>A) c.*4027T>A (n.*4027T>A) c.*4332T>A (n.*4332T>A) c.*4063T>A (n.*4063T>A) c.3664T>A (p.Tyr1222Asn) c.2722+564T>A c.4015T>A (p.Tyr1339Asn) c.2994T>A n.3299T>A n.4122T>A c.4132T>A (p.Tyr1378Asn) c.4111T>A (p.Tyr1371Asn) c.4093T>A (p.Tyr1365Asn) c.4075T>A (p.Tyr1359Asn) c.4036T>A (p.Tyr1346Asn) c.3997T>A (p.Tyr1333Asn) c.3721T>A (p.Tyr1241Asn) c.3682T>A (p.Tyr1228Asn) c.4072T>A (p.Tyr1358Asn) c.3979T>A (p.Tyr1327Asn) c.3454T>A (p.Tyr1152Asn) c.3769T>A (p.Tyr1257Asn) n.8341T>A | |
3 | g.9475720T>C | CA2239841 | SETD5 | n.2913T>C c.4054T>C (p.Tyr1352His) n.4947T>C n.2338T>C n.6200T>C c.3958T>C (p.Tyr1320His) c.*4104T>C (n.*4104T>C) c.*4027T>C (n.*4027T>C) c.*4332T>C (n.*4332T>C) c.*4063T>C (n.*4063T>C) c.3664T>C (p.Tyr1222His) c.2722+564T>C c.4015T>C (p.Tyr1339His) c.2994T>C n.3299T>C n.4122T>C c.4132T>C (p.Tyr1378His) c.4111T>C (p.Tyr1371His) c.4093T>C (p.Tyr1365His) c.4075T>C (p.Tyr1359His) c.4036T>C (p.Tyr1346His) c.3997T>C (p.Tyr1333His) c.3721T>C (p.Tyr1241His) c.3682T>C (p.Tyr1228His) c.4072T>C (p.Tyr1358His) c.3979T>C (p.Tyr1327His) c.3454T>C (p.Tyr1152His) c.3769T>C (p.Tyr1257His) n.8341T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475720T>G | CA351693074 | SETD5 | n.2913T>G c.4054T>G (p.Tyr1352Asp) n.4947T>G n.2338T>G n.6200T>G c.3958T>G (p.Tyr1320Asp) c.*4104T>G (n.*4104T>G) c.*4027T>G (n.*4027T>G) c.*4332T>G (n.*4332T>G) c.*4063T>G (n.*4063T>G) c.3664T>G (p.Tyr1222Asp) c.2722+564T>G c.4015T>G (p.Tyr1339Asp) c.2994T>G n.3299T>G n.4122T>G c.4132T>G (p.Tyr1378Asp) c.4111T>G (p.Tyr1371Asp) c.4093T>G (p.Tyr1365Asp) c.4075T>G (p.Tyr1359Asp) c.4036T>G (p.Tyr1346Asp) c.3997T>G (p.Tyr1333Asp) c.3721T>G (p.Tyr1241Asp) c.3682T>G (p.Tyr1228Asp) c.4072T>G (p.Tyr1358Asp) c.3979T>G (p.Tyr1327Asp) c.3454T>G (p.Tyr1152Asp) c.3769T>G (p.Tyr1257Asp) n.8341T>G | dbSNP |
3 | g.9475720T= | CA1344742738 | SETD5 | n.2913T= c.4054T= (p.Tyr1352=) n.4947T= n.2338T= n.6200T= c.3958T= (p.Tyr1320=) c.*4104T= (n.*4104T=) c.*4027T= (n.*4027T=) c.*4332T= (n.*4332T=) c.*4063T= (n.*4063T=) c.3664T= (p.Tyr1222=) c.2722+564T= c.4015T= (p.Tyr1339=) c.2994T= n.3299T= n.4122T= c.4132T= (p.Tyr1378=) c.4111T= (p.Tyr1371=) c.4093T= (p.Tyr1365=) c.4075T= (p.Tyr1359=) c.4036T= (p.Tyr1346=) c.3997T= (p.Tyr1333=) c.3721T= (p.Tyr1241=) c.3682T= (p.Tyr1228=) c.4072T= (p.Tyr1358=) c.3979T= (p.Tyr1327=) c.3454T= (p.Tyr1152=) c.3769T= (p.Tyr1257=) n.8341T= | |
3 | g.9475721A= | CA1344742744 | SETD5 | n.2914A= c.4055A= (p.Tyr1352=) n.4948A= n.2339A= n.6201A= c.3959A= (p.Tyr1320=) c.*4105A= (n.*4105A=) c.*4028A= (n.*4028A=) c.*4333A= (n.*4333A=) c.*4064A= (n.*4064A=) c.3665A= (p.Tyr1222=) c.2722+565A= c.4016A= (p.Tyr1339=) c.2995A= n.3300A= n.4123A= c.4133A= (p.Tyr1378=) c.4112A= (p.Tyr1371=) c.4094A= (p.Tyr1365=) c.4076A= (p.Tyr1359=) c.4037A= (p.Tyr1346=) c.3998A= (p.Tyr1333=) c.3722A= (p.Tyr1241=) c.3683A= (p.Tyr1228=) c.4073A= (p.Tyr1358=) c.3980A= (p.Tyr1327=) c.3455A= (p.Tyr1152=) c.3770A= (p.Tyr1257=) n.8342A= | |
3 | g.9475721A>C | CA351693102 | SETD5 | n.2914A>C c.4055A>C (p.Tyr1352Ser) n.4948A>C n.2339A>C n.6201A>C c.3959A>C (p.Tyr1320Ser) c.*4105A>C (n.*4105A>C) c.*4028A>C (n.*4028A>C) c.*4333A>C (n.*4333A>C) c.*4064A>C (n.*4064A>C) c.3665A>C (p.Tyr1222Ser) c.2722+565A>C c.4016A>C (p.Tyr1339Ser) c.2995A>C n.3300A>C n.4123A>C c.4133A>C (p.Tyr1378Ser) c.4112A>C (p.Tyr1371Ser) c.4094A>C (p.Tyr1365Ser) c.4076A>C (p.Tyr1359Ser) c.4037A>C (p.Tyr1346Ser) c.3998A>C (p.Tyr1333Ser) c.3722A>C (p.Tyr1241Ser) c.3683A>C (p.Tyr1228Ser) c.4073A>C (p.Tyr1358Ser) c.3980A>C (p.Tyr1327Ser) c.3455A>C (p.Tyr1152Ser) c.3770A>C (p.Tyr1257Ser) n.8342A>C | |
3 | g.9475721A>G | CA2239842 | SETD5 | n.2914A>G c.4055A>G (p.Tyr1352Cys) n.4948A>G n.2339A>G n.6201A>G c.3959A>G (p.Tyr1320Cys) c.*4105A>G (n.*4105A>G) c.*4028A>G (n.*4028A>G) c.*4333A>G (n.*4333A>G) c.*4064A>G (n.*4064A>G) c.3665A>G (p.Tyr1222Cys) c.2722+565A>G c.4016A>G (p.Tyr1339Cys) c.2995A>G n.3300A>G n.4123A>G c.4133A>G (p.Tyr1378Cys) c.4112A>G (p.Tyr1371Cys) c.4094A>G (p.Tyr1365Cys) c.4076A>G (p.Tyr1359Cys) c.4037A>G (p.Tyr1346Cys) c.3998A>G (p.Tyr1333Cys) c.3722A>G (p.Tyr1241Cys) c.3683A>G (p.Tyr1228Cys) c.4073A>G (p.Tyr1358Cys) c.3980A>G (p.Tyr1327Cys) c.3455A>G (p.Tyr1152Cys) c.3770A>G (p.Tyr1257Cys) n.8342A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.9475721A>T | CA351693108 | SETD5 | n.2914A>T c.4055A>T (p.Tyr1352Phe) n.4948A>T n.2339A>T n.6201A>T c.3959A>T (p.Tyr1320Phe) c.*4105A>T (n.*4105A>T) c.*4028A>T (n.*4028A>T) c.*4333A>T (n.*4333A>T) c.*4064A>T (n.*4064A>T) c.3665A>T (p.Tyr1222Phe) c.2722+565A>T c.4016A>T (p.Tyr1339Phe) c.2995A>T n.3300A>T n.4123A>T c.4133A>T (p.Tyr1378Phe) c.4112A>T (p.Tyr1371Phe) c.4094A>T (p.Tyr1365Phe) c.4076A>T (p.Tyr1359Phe) c.4037A>T (p.Tyr1346Phe) c.3998A>T (p.Tyr1333Phe) c.3722A>T (p.Tyr1241Phe) c.3683A>T (p.Tyr1228Phe) c.4073A>T (p.Tyr1358Phe) c.3980A>T (p.Tyr1327Phe) c.3455A>T (p.Tyr1152Phe) c.3770A>T (p.Tyr1257Phe) n.8342A>T | |
3 | g.9475722T>A | CA351693109 | SETD5 | n.2915T>A c.4056T>A (p.Tyr1352Ter) n.4949T>A n.2340T>A n.6202T>A c.3960T>A (p.Tyr1320Ter) c.*4106T>A (n.*4106T>A) c.*4029T>A (n.*4029T>A) c.*4334T>A (n.*4334T>A) c.*4065T>A (n.*4065T>A) c.3666T>A (p.Tyr1222Ter) c.2722+566T>A c.4017T>A (p.Tyr1339Ter) c.2996T>A n.3301T>A n.4124T>A c.4134T>A (p.Tyr1378Ter) c.4113T>A (p.Tyr1371Ter) c.4095T>A (p.Tyr1365Ter) c.4077T>A (p.Tyr1359Ter) c.4038T>A (p.Tyr1346Ter) c.3999T>A (p.Tyr1333Ter) c.3723T>A (p.Tyr1241Ter) c.3684T>A (p.Tyr1228Ter) c.4074T>A (p.Tyr1358Ter) c.3981T>A (p.Tyr1327Ter) c.3456T>A (p.Tyr1152Ter) c.3771T>A (p.Tyr1257Ter) n.8343T>A | |
3 | g.9475722T>C | CA432528390 | SETD5 | n.2915T>C c.4056T>C (p.Tyr1352=) n.4949T>C n.2340T>C n.6202T>C c.3960T>C (p.Tyr1320=) c.*4106T>C (n.*4106T>C) c.*4029T>C (n.*4029T>C) c.*4334T>C (n.*4334T>C) c.*4065T>C (n.*4065T>C) c.3666T>C (p.Tyr1222=) c.2722+566T>C c.4017T>C (p.Tyr1339=) c.2996T>C n.3301T>C n.4124T>C c.4134T>C (p.Tyr1378=) c.4113T>C (p.Tyr1371=) c.4095T>C (p.Tyr1365=) c.4077T>C (p.Tyr1359=) c.4038T>C (p.Tyr1346=) c.3999T>C (p.Tyr1333=) c.3723T>C (p.Tyr1241=) c.3684T>C (p.Tyr1228=) c.4074T>C (p.Tyr1358=) c.3981T>C (p.Tyr1327=) c.3456T>C (p.Tyr1152=) c.3771T>C (p.Tyr1257=) n.8343T>C | |
3 | g.9475722T>G | CA351693112 | SETD5 | n.2915T>G c.4056T>G (p.Tyr1352Ter) n.4949T>G n.2340T>G n.6202T>G c.3960T>G (p.Tyr1320Ter) c.*4106T>G (n.*4106T>G) c.*4029T>G (n.*4029T>G) c.*4334T>G (n.*4334T>G) c.*4065T>G (n.*4065T>G) c.3666T>G (p.Tyr1222Ter) c.2722+566T>G c.4017T>G (p.Tyr1339Ter) c.2996T>G n.3301T>G n.4124T>G c.4134T>G (p.Tyr1378Ter) c.4113T>G (p.Tyr1371Ter) c.4095T>G (p.Tyr1365Ter) c.4077T>G (p.Tyr1359Ter) c.4038T>G (p.Tyr1346Ter) c.3999T>G (p.Tyr1333Ter) c.3723T>G (p.Tyr1241Ter) c.3684T>G (p.Tyr1228Ter) c.4074T>G (p.Tyr1358Ter) c.3981T>G (p.Tyr1327Ter) c.3456T>G (p.Tyr1152Ter) c.3771T>G (p.Tyr1257Ter) n.8343T>G | |
3 | g.9475723T>A | CA351693118 | SETD5 | n.2916T>A c.4057T>A (p.Phe1353Ile) n.4950T>A n.2341T>A n.6203T>A c.3961T>A (p.Phe1321Ile) c.*4107T>A (n.*4107T>A) c.*4030T>A (n.*4030T>A) c.*4335T>A (n.*4335T>A) c.*4066T>A (n.*4066T>A) c.3667T>A (p.Phe1223Ile) c.2722+567T>A c.4018T>A (p.Phe1340Ile) c.2997T>A n.3302T>A n.4125T>A c.4135T>A (p.Phe1379Ile) c.4114T>A (p.Phe1372Ile) c.4096T>A (p.Phe1366Ile) c.4078T>A (p.Phe1360Ile) c.4039T>A (p.Phe1347Ile) c.4000T>A (p.Phe1334Ile) c.3724T>A (p.Phe1242Ile) c.3685T>A (p.Phe1229Ile) c.4075T>A (p.Phe1359Ile) c.3982T>A (p.Phe1328Ile) c.3457T>A (p.Phe1153Ile) c.3772T>A (p.Phe1258Ile) n.8344T>A | gnomAD v4 |
3 | g.9475723T>C | CA351693126 | SETD5 | n.2916T>C c.4057T>C (p.Phe1353Leu) n.4950T>C n.2341T>C n.6203T>C c.3961T>C (p.Phe1321Leu) c.*4107T>C (n.*4107T>C) c.*4030T>C (n.*4030T>C) c.*4335T>C (n.*4335T>C) c.*4066T>C (n.*4066T>C) c.3667T>C (p.Phe1223Leu) c.2722+567T>C c.4018T>C (p.Phe1340Leu) c.2997T>C n.3302T>C n.4125T>C c.4135T>C (p.Phe1379Leu) c.4114T>C (p.Phe1372Leu) c.4096T>C (p.Phe1366Leu) c.4078T>C (p.Phe1360Leu) c.4039T>C (p.Phe1347Leu) c.4000T>C (p.Phe1334Leu) c.3724T>C (p.Phe1242Leu) c.3685T>C (p.Phe1229Leu) c.4075T>C (p.Phe1359Leu) c.3982T>C (p.Phe1328Leu) c.3457T>C (p.Phe1153Leu) c.3772T>C (p.Phe1258Leu) n.8344T>C | |
3 | g.9475723T>G | CA351693134 | SETD5 | n.2916T>G c.4057T>G (p.Phe1353Val) n.4950T>G n.2341T>G n.6203T>G c.3961T>G (p.Phe1321Val) c.*4107T>G (n.*4107T>G) c.*4030T>G (n.*4030T>G) c.*4335T>G (n.*4335T>G) c.*4066T>G (n.*4066T>G) c.3667T>G (p.Phe1223Val) c.2722+567T>G c.4018T>G (p.Phe1340Val) c.2997T>G n.3302T>G n.4125T>G c.4135T>G (p.Phe1379Val) c.4114T>G (p.Phe1372Val) c.4096T>G (p.Phe1366Val) c.4078T>G (p.Phe1360Val) c.4039T>G (p.Phe1347Val) c.4000T>G (p.Phe1334Val) c.3724T>G (p.Phe1242Val) c.3685T>G (p.Phe1229Val) c.4075T>G (p.Phe1359Val) c.3982T>G (p.Phe1328Val) c.3457T>G (p.Phe1153Val) c.3772T>G (p.Phe1258Val) n.8344T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475723T= | CA1344742749 | SETD5 | n.2916T= c.4057T= (p.Phe1353=) n.4950T= n.2341T= n.6203T= c.3961T= (p.Phe1321=) c.*4107T= (n.*4107T=) c.*4030T= (n.*4030T=) c.*4335T= (n.*4335T=) c.*4066T= (n.*4066T=) c.3667T= (p.Phe1223=) c.2722+567T= c.4018T= (p.Phe1340=) c.2997T= n.3302T= n.4125T= c.4135T= (p.Phe1379=) c.4114T= (p.Phe1372=) c.4096T= (p.Phe1366=) c.4078T= (p.Phe1360=) c.4039T= (p.Phe1347=) c.4000T= (p.Phe1334=) c.3724T= (p.Phe1242=) c.3685T= (p.Phe1229=) c.4075T= (p.Phe1359=) c.3982T= (p.Phe1328=) c.3457T= (p.Phe1153=) c.3772T= (p.Phe1258=) n.8344T= | |
3 | g.9475724T>A | CA351693138 | SETD5 | n.2917T>A c.4058T>A (p.Phe1353Tyr) n.4951T>A n.2342T>A n.6204T>A c.3962T>A (p.Phe1321Tyr) c.*4108T>A (n.*4108T>A) c.*4031T>A (n.*4031T>A) c.*4336T>A (n.*4336T>A) c.*4067T>A (n.*4067T>A) c.3668T>A (p.Phe1223Tyr) c.2722+568T>A c.4019T>A (p.Phe1340Tyr) c.2998T>A n.3303T>A n.4126T>A c.4136T>A (p.Phe1379Tyr) c.4115T>A (p.Phe1372Tyr) c.4097T>A (p.Phe1366Tyr) c.4079T>A (p.Phe1360Tyr) c.4040T>A (p.Phe1347Tyr) c.4001T>A (p.Phe1334Tyr) c.3725T>A (p.Phe1242Tyr) c.3686T>A (p.Phe1229Tyr) c.4076T>A (p.Phe1359Tyr) c.3983T>A (p.Phe1328Tyr) c.3458T>A (p.Phe1153Tyr) c.3773T>A (p.Phe1258Tyr) n.8345T>A | |
3 | g.9475724T>C | CA351693144 | SETD5 | n.2917T>C c.4058T>C (p.Phe1353Ser) n.4951T>C n.2342T>C n.6204T>C c.3962T>C (p.Phe1321Ser) c.*4108T>C (n.*4108T>C) c.*4031T>C (n.*4031T>C) c.*4336T>C (n.*4336T>C) c.*4067T>C (n.*4067T>C) c.3668T>C (p.Phe1223Ser) c.2722+568T>C c.4019T>C (p.Phe1340Ser) c.2998T>C n.3303T>C n.4126T>C c.4136T>C (p.Phe1379Ser) c.4115T>C (p.Phe1372Ser) c.4097T>C (p.Phe1366Ser) c.4079T>C (p.Phe1360Ser) c.4040T>C (p.Phe1347Ser) c.4001T>C (p.Phe1334Ser) c.3725T>C (p.Phe1242Ser) c.3686T>C (p.Phe1229Ser) c.4076T>C (p.Phe1359Ser) c.3983T>C (p.Phe1328Ser) c.3458T>C (p.Phe1153Ser) c.3773T>C (p.Phe1258Ser) n.8345T>C | |
3 | g.9475724T>G | CA351693146 | SETD5 | n.2917T>G c.4058T>G (p.Phe1353Cys) n.4951T>G n.2342T>G n.6204T>G c.3962T>G (p.Phe1321Cys) c.*4108T>G (n.*4108T>G) c.*4031T>G (n.*4031T>G) c.*4336T>G (n.*4336T>G) c.*4067T>G (n.*4067T>G) c.3668T>G (p.Phe1223Cys) c.2722+568T>G c.4019T>G (p.Phe1340Cys) c.2998T>G n.3303T>G n.4126T>G c.4136T>G (p.Phe1379Cys) c.4115T>G (p.Phe1372Cys) c.4097T>G (p.Phe1366Cys) c.4079T>G (p.Phe1360Cys) c.4040T>G (p.Phe1347Cys) c.4001T>G (p.Phe1334Cys) c.3725T>G (p.Phe1242Cys) c.3686T>G (p.Phe1229Cys) c.4076T>G (p.Phe1359Cys) c.3983T>G (p.Phe1328Cys) c.3458T>G (p.Phe1153Cys) c.3773T>G (p.Phe1258Cys) n.8345T>G | |
3 | g.9475725T>A | CA351693154 | SETD5 | n.2918T>A c.4059T>A (p.Phe1353Leu) n.4952T>A n.2343T>A n.6205T>A c.3963T>A (p.Phe1321Leu) c.*4109T>A (n.*4109T>A) c.*4032T>A (n.*4032T>A) c.*4337T>A (n.*4337T>A) c.*4068T>A (n.*4068T>A) c.3669T>A (p.Phe1223Leu) c.2722+569T>A c.4020T>A (p.Phe1340Leu) c.2999T>A n.3304T>A n.4127T>A c.4137T>A (p.Phe1379Leu) c.4116T>A (p.Phe1372Leu) c.4098T>A (p.Phe1366Leu) c.4080T>A (p.Phe1360Leu) c.4041T>A (p.Phe1347Leu) c.4002T>A (p.Phe1334Leu) c.3726T>A (p.Phe1242Leu) c.3687T>A (p.Phe1229Leu) c.4077T>A (p.Phe1359Leu) c.3984T>A (p.Phe1328Leu) c.3459T>A (p.Phe1153Leu) c.3774T>A (p.Phe1258Leu) n.8346T>A | |
3 | g.9475725T>C | CA432528393 | SETD5 | n.2918T>C c.4059T>C (p.Phe1353=) n.4952T>C n.2343T>C n.6205T>C c.3963T>C (p.Phe1321=) c.*4109T>C (n.*4109T>C) c.*4032T>C (n.*4032T>C) c.*4337T>C (n.*4337T>C) c.*4068T>C (n.*4068T>C) c.3669T>C (p.Phe1223=) c.2722+569T>C c.4020T>C (p.Phe1340=) c.2999T>C n.3304T>C n.4127T>C c.4137T>C (p.Phe1379=) c.4116T>C (p.Phe1372=) c.4098T>C (p.Phe1366=) c.4080T>C (p.Phe1360=) c.4041T>C (p.Phe1347=) c.4002T>C (p.Phe1334=) c.3726T>C (p.Phe1242=) c.3687T>C (p.Phe1229=) c.4077T>C (p.Phe1359=) c.3984T>C (p.Phe1328=) c.3459T>C (p.Phe1153=) c.3774T>C (p.Phe1258=) n.8346T>C | |
3 | g.9475725T>G | CA351693158 | SETD5 | n.2918T>G c.4059T>G (p.Phe1353Leu) n.4952T>G n.2343T>G n.6205T>G c.3963T>G (p.Phe1321Leu) c.*4109T>G (n.*4109T>G) c.*4032T>G (n.*4032T>G) c.*4337T>G (n.*4337T>G) c.*4068T>G (n.*4068T>G) c.3669T>G (p.Phe1223Leu) c.2722+569T>G c.4020T>G (p.Phe1340Leu) c.2999T>G n.3304T>G n.4127T>G c.4137T>G (p.Phe1379Leu) c.4116T>G (p.Phe1372Leu) c.4098T>G (p.Phe1366Leu) c.4080T>G (p.Phe1360Leu) c.4041T>G (p.Phe1347Leu) c.4002T>G (p.Phe1334Leu) c.3726T>G (p.Phe1242Leu) c.3687T>G (p.Phe1229Leu) c.4077T>G (p.Phe1359Leu) c.3984T>G (p.Phe1328Leu) c.3459T>G (p.Phe1153Leu) c.3774T>G (p.Phe1258Leu) n.8346T>G | |
3 | g.9475726A>C | CA351693177 | SETD5 | n.2919A>C c.4060A>C (p.Ser1354Arg) n.4953A>C n.2344A>C n.6206A>C c.3964A>C (p.Ser1322Arg) c.*4110A>C (n.*4110A>C) c.*4033A>C (n.*4033A>C) c.*4338A>C (n.*4338A>C) c.*4069A>C (n.*4069A>C) c.3670A>C (p.Ser1224Arg) c.2722+570A>C c.4021A>C (p.Ser1341Arg) c.3000A>C n.3305A>C n.4128A>C c.4138A>C (p.Ser1380Arg) c.4117A>C (p.Ser1373Arg) c.4099A>C (p.Ser1367Arg) c.4081A>C (p.Ser1361Arg) c.4042A>C (p.Ser1348Arg) c.4003A>C (p.Ser1335Arg) c.3727A>C (p.Ser1243Arg) c.3688A>C (p.Ser1230Arg) c.4078A>C (p.Ser1360Arg) c.3985A>C (p.Ser1329Arg) c.3460A>C (p.Ser1154Arg) c.3775A>C (p.Ser1259Arg) n.8347A>C | |
3 | g.9475726A>G | CA351693181 | SETD5 | n.2919A>G c.4060A>G (p.Ser1354Gly) n.4953A>G n.2344A>G n.6206A>G c.3964A>G (p.Ser1322Gly) c.*4110A>G (n.*4110A>G) c.*4033A>G (n.*4033A>G) c.*4338A>G (n.*4338A>G) c.*4069A>G (n.*4069A>G) c.3670A>G (p.Ser1224Gly) c.2722+570A>G c.4021A>G (p.Ser1341Gly) c.3000A>G n.3305A>G n.4128A>G c.4138A>G (p.Ser1380Gly) c.4117A>G (p.Ser1373Gly) c.4099A>G (p.Ser1367Gly) c.4081A>G (p.Ser1361Gly) c.4042A>G (p.Ser1348Gly) c.4003A>G (p.Ser1335Gly) c.3727A>G (p.Ser1243Gly) c.3688A>G (p.Ser1230Gly) c.4078A>G (p.Ser1360Gly) c.3985A>G (p.Ser1329Gly) c.3460A>G (p.Ser1154Gly) c.3775A>G (p.Ser1259Gly) n.8347A>G | |
3 | g.9475726A>T | CA351693185 | SETD5 | n.2919A>T c.4060A>T (p.Ser1354Cys) n.4953A>T n.2344A>T n.6206A>T c.3964A>T (p.Ser1322Cys) c.*4110A>T (n.*4110A>T) c.*4033A>T (n.*4033A>T) c.*4338A>T (n.*4338A>T) c.*4069A>T (n.*4069A>T) c.3670A>T (p.Ser1224Cys) c.2722+570A>T c.4021A>T (p.Ser1341Cys) c.3000A>T n.3305A>T n.4128A>T c.4138A>T (p.Ser1380Cys) c.4117A>T (p.Ser1373Cys) c.4099A>T (p.Ser1367Cys) c.4081A>T (p.Ser1361Cys) c.4042A>T (p.Ser1348Cys) c.4003A>T (p.Ser1335Cys) c.3727A>T (p.Ser1243Cys) c.3688A>T (p.Ser1230Cys) c.4078A>T (p.Ser1360Cys) c.3985A>T (p.Ser1329Cys) c.3460A>T (p.Ser1154Cys) c.3775A>T (p.Ser1259Cys) n.8347A>T | COSMIC COSMIC |
3 | g.9475727G>A | CA351693188 | SETD5 | n.2920G>A c.4061G>A (p.Ser1354Asn) n.4954G>A n.2345G>A n.6207G>A c.3965G>A (p.Ser1322Asn) c.*4111G>A (n.*4111G>A) c.*4034G>A (n.*4034G>A) c.*4339G>A (n.*4339G>A) c.*4070G>A (n.*4070G>A) c.3671G>A (p.Ser1224Asn) c.2722+571G>A c.4022G>A (p.Ser1341Asn) c.3001G>A n.3306G>A n.4129G>A c.4139G>A (p.Ser1380Asn) c.4118G>A (p.Ser1373Asn) c.4100G>A (p.Ser1367Asn) c.4082G>A (p.Ser1361Asn) c.4043G>A (p.Ser1348Asn) c.4004G>A (p.Ser1335Asn) c.3728G>A (p.Ser1243Asn) c.3689G>A (p.Ser1230Asn) c.4079G>A (p.Ser1360Asn) c.3986G>A (p.Ser1329Asn) c.3461G>A (p.Ser1154Asn) c.3776G>A (p.Ser1259Asn) n.8348G>A | |
3 | g.9475727G>C | CA351693195 | SETD5 | n.2920G>C c.4061G>C (p.Ser1354Thr) n.4954G>C n.2345G>C n.6207G>C c.3965G>C (p.Ser1322Thr) c.*4111G>C (n.*4111G>C) c.*4034G>C (n.*4034G>C) c.*4339G>C (n.*4339G>C) c.*4070G>C (n.*4070G>C) c.3671G>C (p.Ser1224Thr) c.2722+571G>C c.4022G>C (p.Ser1341Thr) c.3001G>C n.3306G>C n.4129G>C c.4139G>C (p.Ser1380Thr) c.4118G>C (p.Ser1373Thr) c.4100G>C (p.Ser1367Thr) c.4082G>C (p.Ser1361Thr) c.4043G>C (p.Ser1348Thr) c.4004G>C (p.Ser1335Thr) c.3728G>C (p.Ser1243Thr) c.3689G>C (p.Ser1230Thr) c.4079G>C (p.Ser1360Thr) c.3986G>C (p.Ser1329Thr) c.3461G>C (p.Ser1154Thr) c.3776G>C (p.Ser1259Thr) n.8348G>C | |
3 | g.9475727G>T | CA351693202 | SETD5 | n.2920G>T c.4061G>T (p.Ser1354Ile) n.4954G>T n.2345G>T n.6207G>T c.3965G>T (p.Ser1322Ile) c.*4111G>T (n.*4111G>T) c.*4034G>T (n.*4034G>T) c.*4339G>T (n.*4339G>T) c.*4070G>T (n.*4070G>T) c.3671G>T (p.Ser1224Ile) c.2722+571G>T c.4022G>T (p.Ser1341Ile) c.3001G>T n.3306G>T n.4129G>T c.4139G>T (p.Ser1380Ile) c.4118G>T (p.Ser1373Ile) c.4100G>T (p.Ser1367Ile) c.4082G>T (p.Ser1361Ile) c.4043G>T (p.Ser1348Ile) c.4004G>T (p.Ser1335Ile) c.3728G>T (p.Ser1243Ile) c.3689G>T (p.Ser1230Ile) c.4079G>T (p.Ser1360Ile) c.3986G>T (p.Ser1329Ile) c.3461G>T (p.Ser1154Ile) c.3776G>T (p.Ser1259Ile) n.8348G>T | |
3 | g.9475728C>A | CA351693209 | SETD5 | n.2921C>A c.4062C>A (p.Ser1354Arg) n.4955C>A n.2346C>A n.6208C>A c.3966C>A (p.Ser1322Arg) c.*4112C>A (n.*4112C>A) c.*4035C>A (n.*4035C>A) c.*4340C>A (n.*4340C>A) c.*4071C>A (n.*4071C>A) c.3672C>A (p.Ser1224Arg) c.2722+572C>A c.4023C>A (p.Ser1341Arg) c.3002C>A n.3307C>A n.4130C>A c.4140C>A (p.Ser1380Arg) c.4119C>A (p.Ser1373Arg) c.4101C>A (p.Ser1367Arg) c.4083C>A (p.Ser1361Arg) c.4044C>A (p.Ser1348Arg) c.4005C>A (p.Ser1335Arg) c.3729C>A (p.Ser1243Arg) c.3690C>A (p.Ser1230Arg) c.4080C>A (p.Ser1360Arg) c.3987C>A (p.Ser1329Arg) c.3462C>A (p.Ser1154Arg) c.3777C>A (p.Ser1259Arg) n.8349C>A | |
3 | g.9475728C= | CA1344742752 | SETD5 | n.2921C= c.4062C= (p.Ser1354=) n.4955C= n.2346C= n.6208C= c.3966C= (p.Ser1322=) c.*4112C= (n.*4112C=) c.*4035C= (n.*4035C=) c.*4340C= (n.*4340C=) c.*4071C= (n.*4071C=) c.3672C= (p.Ser1224=) c.2722+572C= c.4023C= (p.Ser1341=) c.3002C= n.3307C= n.4130C= c.4140C= (p.Ser1380=) c.4119C= (p.Ser1373=) c.4101C= (p.Ser1367=) c.4083C= (p.Ser1361=) c.4044C= (p.Ser1348=) c.4005C= (p.Ser1335=) c.3729C= (p.Ser1243=) c.3690C= (p.Ser1230=) c.4080C= (p.Ser1360=) c.3987C= (p.Ser1329=) c.3462C= (p.Ser1154=) c.3777C= (p.Ser1259=) n.8349C= | |
3 | g.9475728C>G | CA351693211 | SETD5 | n.2921C>G c.4062C>G (p.Ser1354Arg) n.4955C>G n.2346C>G n.6208C>G c.3966C>G (p.Ser1322Arg) c.*4112C>G (n.*4112C>G) c.*4035C>G (n.*4035C>G) c.*4340C>G (n.*4340C>G) c.*4071C>G (n.*4071C>G) c.3672C>G (p.Ser1224Arg) c.2722+572C>G c.4023C>G (p.Ser1341Arg) c.3002C>G n.3307C>G n.4130C>G c.4140C>G (p.Ser1380Arg) c.4119C>G (p.Ser1373Arg) c.4101C>G (p.Ser1367Arg) c.4083C>G (p.Ser1361Arg) c.4044C>G (p.Ser1348Arg) c.4005C>G (p.Ser1335Arg) c.3729C>G (p.Ser1243Arg) c.3690C>G (p.Ser1230Arg) c.4080C>G (p.Ser1360Arg) c.3987C>G (p.Ser1329Arg) c.3462C>G (p.Ser1154Arg) c.3777C>G (p.Ser1259Arg) n.8349C>G | |
3 | g.9475728C>T | CA432528398 | SETD5 | n.2921C>T c.4062C>T (p.Ser1354=) n.4955C>T n.2346C>T n.6208C>T c.3966C>T (p.Ser1322=) c.*4112C>T (n.*4112C>T) c.*4035C>T (n.*4035C>T) c.*4340C>T (n.*4340C>T) c.*4071C>T (n.*4071C>T) c.3672C>T (p.Ser1224=) c.2722+572C>T c.4023C>T (p.Ser1341=) c.3002C>T n.3307C>T n.4130C>T c.4140C>T (p.Ser1380=) c.4119C>T (p.Ser1373=) c.4101C>T (p.Ser1367=) c.4083C>T (p.Ser1361=) c.4044C>T (p.Ser1348=) c.4005C>T (p.Ser1335=) c.3729C>T (p.Ser1243=) c.3690C>T (p.Ser1230=) c.4080C>T (p.Ser1360=) c.3987C>T (p.Ser1329=) c.3462C>T (p.Ser1154=) c.3777C>T (p.Ser1259=) n.8349C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475729A= | CA1344742756 | SETD5 | n.2922A= c.4063A= (p.Ser1355=) n.4956A= n.2347A= n.6209A= c.3967A= (p.Ser1323=) c.*4113A= (n.*4113A=) c.*4036A= (n.*4036A=) c.*4341A= (n.*4341A=) c.*4072A= (n.*4072A=) c.3673A= (p.Ser1225=) c.2722+573A= c.4024A= (p.Ser1342=) c.3003A= n.3308A= n.4131A= c.4141A= (p.Ser1381=) c.4120A= (p.Ser1374=) c.4102A= (p.Ser1368=) c.4084A= (p.Ser1362=) c.4045A= (p.Ser1349=) c.4006A= (p.Ser1336=) c.3730A= (p.Ser1244=) c.3691A= (p.Ser1231=) c.4081A= (p.Ser1361=) c.3988A= (p.Ser1330=) c.3463A= (p.Ser1155=) c.3778A= (p.Ser1260=) n.8350A= | |
3 | g.9475729A>C | CA351693217 | SETD5 | n.2922A>C c.4063A>C (p.Ser1355Arg) n.4956A>C n.2347A>C n.6209A>C c.3967A>C (p.Ser1323Arg) c.*4113A>C (n.*4113A>C) c.*4036A>C (n.*4036A>C) c.*4341A>C (n.*4341A>C) c.*4072A>C (n.*4072A>C) c.3673A>C (p.Ser1225Arg) c.2722+573A>C c.4024A>C (p.Ser1342Arg) c.3003A>C n.3308A>C n.4131A>C c.4141A>C (p.Ser1381Arg) c.4120A>C (p.Ser1374Arg) c.4102A>C (p.Ser1368Arg) c.4084A>C (p.Ser1362Arg) c.4045A>C (p.Ser1349Arg) c.4006A>C (p.Ser1336Arg) c.3730A>C (p.Ser1244Arg) c.3691A>C (p.Ser1231Arg) c.4081A>C (p.Ser1361Arg) c.3988A>C (p.Ser1330Arg) c.3463A>C (p.Ser1155Arg) c.3778A>C (p.Ser1260Arg) n.8350A>C | dbSNP |
3 | g.9475729A>G | CA351693225 | SETD5 | n.2922A>G c.4063A>G (p.Ser1355Gly) n.4956A>G n.2347A>G n.6209A>G c.3967A>G (p.Ser1323Gly) c.*4113A>G (n.*4113A>G) c.*4036A>G (n.*4036A>G) c.*4341A>G (n.*4341A>G) c.*4072A>G (n.*4072A>G) c.3673A>G (p.Ser1225Gly) c.2722+573A>G c.4024A>G (p.Ser1342Gly) c.3003A>G n.3308A>G n.4131A>G c.4141A>G (p.Ser1381Gly) c.4120A>G (p.Ser1374Gly) c.4102A>G (p.Ser1368Gly) c.4084A>G (p.Ser1362Gly) c.4045A>G (p.Ser1349Gly) c.4006A>G (p.Ser1336Gly) c.3730A>G (p.Ser1244Gly) c.3691A>G (p.Ser1231Gly) c.4081A>G (p.Ser1361Gly) c.3988A>G (p.Ser1330Gly) c.3463A>G (p.Ser1155Gly) c.3778A>G (p.Ser1260Gly) n.8350A>G | |
3 | g.9475729A>T | CA351693230 | SETD5 | n.2922A>T c.4063A>T (p.Ser1355Cys) n.4956A>T n.2347A>T n.6209A>T c.3967A>T (p.Ser1323Cys) c.*4113A>T (n.*4113A>T) c.*4036A>T (n.*4036A>T) c.*4341A>T (n.*4341A>T) c.*4072A>T (n.*4072A>T) c.3673A>T (p.Ser1225Cys) c.2722+573A>T c.4024A>T (p.Ser1342Cys) c.3003A>T n.3308A>T n.4131A>T c.4141A>T (p.Ser1381Cys) c.4120A>T (p.Ser1374Cys) c.4102A>T (p.Ser1368Cys) c.4084A>T (p.Ser1362Cys) c.4045A>T (p.Ser1349Cys) c.4006A>T (p.Ser1336Cys) c.3730A>T (p.Ser1244Cys) c.3691A>T (p.Ser1231Cys) c.4081A>T (p.Ser1361Cys) c.3988A>T (p.Ser1330Cys) c.3463A>T (p.Ser1155Cys) c.3778A>T (p.Ser1260Cys) n.8350A>T | |
3 | g.9475730G>A | CA351693235 | SETD5 | n.2923G>A c.4064G>A (p.Ser1355Asn) n.4957G>A n.2348G>A n.6210G>A c.3968G>A (p.Ser1323Asn) c.*4114G>A (n.*4114G>A) c.*4037G>A (n.*4037G>A) c.*4342G>A (n.*4342G>A) c.*4073G>A (n.*4073G>A) c.3674G>A (p.Ser1225Asn) c.2722+574G>A c.4025G>A (p.Ser1342Asn) c.3004G>A n.3309G>A n.4132G>A c.4142G>A (p.Ser1381Asn) c.4121G>A (p.Ser1374Asn) c.4103G>A (p.Ser1368Asn) c.4085G>A (p.Ser1362Asn) c.4046G>A (p.Ser1349Asn) c.4007G>A (p.Ser1336Asn) c.3731G>A (p.Ser1244Asn) c.3692G>A (p.Ser1231Asn) c.4082G>A (p.Ser1361Asn) c.3989G>A (p.Ser1330Asn) c.3464G>A (p.Ser1155Asn) c.3779G>A (p.Ser1260Asn) n.8351G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475730G>C | CA351693240 | SETD5 | n.2923G>C c.4064G>C (p.Ser1355Thr) n.4957G>C n.2348G>C n.6210G>C c.3968G>C (p.Ser1323Thr) c.*4114G>C (n.*4114G>C) c.*4037G>C (n.*4037G>C) c.*4342G>C (n.*4342G>C) c.*4073G>C (n.*4073G>C) c.3674G>C (p.Ser1225Thr) c.2722+574G>C c.4025G>C (p.Ser1342Thr) c.3004G>C n.3309G>C n.4132G>C c.4142G>C (p.Ser1381Thr) c.4121G>C (p.Ser1374Thr) c.4103G>C (p.Ser1368Thr) c.4085G>C (p.Ser1362Thr) c.4046G>C (p.Ser1349Thr) c.4007G>C (p.Ser1336Thr) c.3731G>C (p.Ser1244Thr) c.3692G>C (p.Ser1231Thr) c.4082G>C (p.Ser1361Thr) c.3989G>C (p.Ser1330Thr) c.3464G>C (p.Ser1155Thr) c.3779G>C (p.Ser1260Thr) n.8351G>C | |
3 | g.9475730G= | CA1344742760 | SETD5 | n.2923G= c.4064G= (p.Ser1355=) n.4957G= n.2348G= n.6210G= c.3968G= (p.Ser1323=) c.*4114G= (n.*4114G=) c.*4037G= (n.*4037G=) c.*4342G= (n.*4342G=) c.*4073G= (n.*4073G=) c.3674G= (p.Ser1225=) c.2722+574G= c.4025G= (p.Ser1342=) c.3004G= n.3309G= n.4132G= c.4142G= (p.Ser1381=) c.4121G= (p.Ser1374=) c.4103G= (p.Ser1368=) c.4085G= (p.Ser1362=) c.4046G= (p.Ser1349=) c.4007G= (p.Ser1336=) c.3731G= (p.Ser1244=) c.3692G= (p.Ser1231=) c.4082G= (p.Ser1361=) c.3989G= (p.Ser1330=) c.3464G= (p.Ser1155=) c.3779G= (p.Ser1260=) n.8351G= | |
3 | g.9475730G>T | CA351693244 | SETD5 | n.2923G>T c.4064G>T (p.Ser1355Ile) n.4957G>T n.2348G>T n.6210G>T c.3968G>T (p.Ser1323Ile) c.*4114G>T (n.*4114G>T) c.*4037G>T (n.*4037G>T) c.*4342G>T (n.*4342G>T) c.*4073G>T (n.*4073G>T) c.3674G>T (p.Ser1225Ile) c.2722+574G>T c.4025G>T (p.Ser1342Ile) c.3004G>T n.3309G>T n.4132G>T c.4142G>T (p.Ser1381Ile) c.4121G>T (p.Ser1374Ile) c.4103G>T (p.Ser1368Ile) c.4085G>T (p.Ser1362Ile) c.4046G>T (p.Ser1349Ile) c.4007G>T (p.Ser1336Ile) c.3731G>T (p.Ser1244Ile) c.3692G>T (p.Ser1231Ile) c.4082G>T (p.Ser1361Ile) c.3989G>T (p.Ser1330Ile) c.3464G>T (p.Ser1155Ile) c.3779G>T (p.Ser1260Ile) n.8351G>T | |
3 | g.9475731C>A | CA351693253 | SETD5 | n.2924C>A c.4065C>A (p.Ser1355Arg) n.4958C>A n.2349C>A n.6211C>A c.3969C>A (p.Ser1323Arg) c.*4115C>A (n.*4115C>A) c.*4038C>A (n.*4038C>A) c.*4343C>A (n.*4343C>A) c.*4074C>A (n.*4074C>A) c.3675C>A (p.Ser1225Arg) c.2722+575C>A c.4026C>A (p.Ser1342Arg) c.3005C>A n.3310C>A n.4133C>A c.4143C>A (p.Ser1381Arg) c.4122C>A (p.Ser1374Arg) c.4104C>A (p.Ser1368Arg) c.4086C>A (p.Ser1362Arg) c.4047C>A (p.Ser1349Arg) c.4008C>A (p.Ser1336Arg) c.3732C>A (p.Ser1244Arg) c.3693C>A (p.Ser1231Arg) c.4083C>A (p.Ser1361Arg) c.3990C>A (p.Ser1330Arg) c.3465C>A (p.Ser1155Arg) c.3780C>A (p.Ser1260Arg) n.8352C>A | |
3 | g.9475731C= | CA1344742763 | SETD5 | n.2924C= c.4065C= (p.Ser1355=) n.4958C= n.2349C= n.6211C= c.3969C= (p.Ser1323=) c.*4115C= (n.*4115C=) c.*4038C= (n.*4038C=) c.*4343C= (n.*4343C=) c.*4074C= (n.*4074C=) c.3675C= (p.Ser1225=) c.2722+575C= c.4026C= (p.Ser1342=) c.3005C= n.3310C= n.4133C= c.4143C= (p.Ser1381=) c.4122C= (p.Ser1374=) c.4104C= (p.Ser1368=) c.4086C= (p.Ser1362=) c.4047C= (p.Ser1349=) c.4008C= (p.Ser1336=) c.3732C= (p.Ser1244=) c.3693C= (p.Ser1231=) c.4083C= (p.Ser1361=) c.3990C= (p.Ser1330=) c.3465C= (p.Ser1155=) c.3780C= (p.Ser1260=) n.8352C= | |
3 | g.9475731C>G | CA351693260 | SETD5 | n.2924C>G c.4065C>G (p.Ser1355Arg) n.4958C>G n.2349C>G n.6211C>G c.3969C>G (p.Ser1323Arg) c.*4115C>G (n.*4115C>G) c.*4038C>G (n.*4038C>G) c.*4343C>G (n.*4343C>G) c.*4074C>G (n.*4074C>G) c.3675C>G (p.Ser1225Arg) c.2722+575C>G c.4026C>G (p.Ser1342Arg) c.3005C>G n.3310C>G n.4133C>G c.4143C>G (p.Ser1381Arg) c.4122C>G (p.Ser1374Arg) c.4104C>G (p.Ser1368Arg) c.4086C>G (p.Ser1362Arg) c.4047C>G (p.Ser1349Arg) c.4008C>G (p.Ser1336Arg) c.3732C>G (p.Ser1244Arg) c.3693C>G (p.Ser1231Arg) c.4083C>G (p.Ser1361Arg) c.3990C>G (p.Ser1330Arg) c.3465C>G (p.Ser1155Arg) c.3780C>G (p.Ser1260Arg) n.8352C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475731C>T | CA432528402 | SETD5 | n.2924C>T c.4065C>T (p.Ser1355=) n.4958C>T n.2349C>T n.6211C>T c.3969C>T (p.Ser1323=) c.*4115C>T (n.*4115C>T) c.*4038C>T (n.*4038C>T) c.*4343C>T (n.*4343C>T) c.*4074C>T (n.*4074C>T) c.3675C>T (p.Ser1225=) c.2722+575C>T c.4026C>T (p.Ser1342=) c.3005C>T n.3310C>T n.4133C>T c.4143C>T (p.Ser1381=) c.4122C>T (p.Ser1374=) c.4104C>T (p.Ser1368=) c.4086C>T (p.Ser1362=) c.4047C>T (p.Ser1349=) c.4008C>T (p.Ser1336=) c.3732C>T (p.Ser1244=) c.3693C>T (p.Ser1231=) c.4083C>T (p.Ser1361=) c.3990C>T (p.Ser1330=) c.3465C>T (p.Ser1155=) c.3780C>T (p.Ser1260=) n.8352C>T | |
3 | g.9475732del | CA2739278340 | SETD5 | n.2925del c.4066del (p.Gln1356SerfsTer?) n.4959del n.2350del n.6212del c.3970del (p.Gln1324SerfsTer?) c.*4116del (n.*4116del) c.*4039del (n.*4039del) c.*4344del (n.*4344del) c.*4075del (n.*4075del) c.3676del (p.Gln1226SerfsTer?) c.2722+576del c.4027del (p.Gln1343SerfsTer?) c.3006del n.3311del n.4134del c.4144del (p.Gln1382SerfsTer?) c.4123del (p.Gln1375SerfsTer?) c.4105del (p.Gln1369SerfsTer?) c.4087del (p.Gln1363SerfsTer?) c.4048del (p.Gln1350SerfsTer?) c.4009del (p.Gln1337SerfsTer?) c.3733del (p.Gln1245SerfsTer?) c.3694del (p.Gln1232SerfsTer?) c.4084del (p.Gln1362SerfsTer?) c.3991del (p.Gln1331SerfsTer?) c.3466del (p.Gln1156SerfsTer?) c.3781del (p.Gln1261SerfsTer?) n.8353del | ClinVar |
3 | g.9475732C>A | CA351693270 | SETD5 | n.2925C>A c.4066C>A (p.Gln1356Lys) n.4959C>A n.2350C>A n.6212C>A c.3970C>A (p.Gln1324Lys) c.*4116C>A (n.*4116C>A) c.*4039C>A (n.*4039C>A) c.*4344C>A (n.*4344C>A) c.*4075C>A (n.*4075C>A) c.3676C>A (p.Gln1226Lys) c.2722+576C>A c.4027C>A (p.Gln1343Lys) c.3006C>A n.3311C>A n.4134C>A c.4144C>A (p.Gln1382Lys) c.4123C>A (p.Gln1375Lys) c.4105C>A (p.Gln1369Lys) c.4087C>A (p.Gln1363Lys) c.4048C>A (p.Gln1350Lys) c.4009C>A (p.Gln1337Lys) c.3733C>A (p.Gln1245Lys) c.3694C>A (p.Gln1232Lys) c.4084C>A (p.Gln1362Lys) c.3991C>A (p.Gln1331Lys) c.3466C>A (p.Gln1156Lys) c.3781C>A (p.Gln1261Lys) n.8353C>A | |
3 | g.9475732C>G | CA351693274 | SETD5 | n.2925C>G c.4066C>G (p.Gln1356Glu) n.4959C>G n.2350C>G n.6212C>G c.3970C>G (p.Gln1324Glu) c.*4116C>G (n.*4116C>G) c.*4039C>G (n.*4039C>G) c.*4344C>G (n.*4344C>G) c.*4075C>G (n.*4075C>G) c.3676C>G (p.Gln1226Glu) c.2722+576C>G c.4027C>G (p.Gln1343Glu) c.3006C>G n.3311C>G n.4134C>G c.4144C>G (p.Gln1382Glu) c.4123C>G (p.Gln1375Glu) c.4105C>G (p.Gln1369Glu) c.4087C>G (p.Gln1363Glu) c.4048C>G (p.Gln1350Glu) c.4009C>G (p.Gln1337Glu) c.3733C>G (p.Gln1245Glu) c.3694C>G (p.Gln1232Glu) c.4084C>G (p.Gln1362Glu) c.3991C>G (p.Gln1331Glu) c.3466C>G (p.Gln1156Glu) c.3781C>G (p.Gln1261Glu) n.8353C>G | |
3 | g.9475732C>T | CA351693279 | SETD5 | n.2925C>T c.4066C>T (p.Gln1356Ter) n.4959C>T n.2350C>T n.6212C>T c.3970C>T (p.Gln1324Ter) c.*4116C>T (n.*4116C>T) c.*4039C>T (n.*4039C>T) c.*4344C>T (n.*4344C>T) c.*4075C>T (n.*4075C>T) c.3676C>T (p.Gln1226Ter) c.2722+576C>T c.4027C>T (p.Gln1343Ter) c.3006C>T n.3311C>T n.4134C>T c.4144C>T (p.Gln1382Ter) c.4123C>T (p.Gln1375Ter) c.4105C>T (p.Gln1369Ter) c.4087C>T (p.Gln1363Ter) c.4048C>T (p.Gln1350Ter) c.4009C>T (p.Gln1337Ter) c.3733C>T (p.Gln1245Ter) c.3694C>T (p.Gln1232Ter) c.4084C>T (p.Gln1362Ter) c.3991C>T (p.Gln1331Ter) c.3466C>T (p.Gln1156Ter) c.3781C>T (p.Gln1261Ter) n.8353C>T | gnomAD v4 |
3 | g.9475733A>C | CA351693282 | SETD5 | n.2926A>C c.4067A>C (p.Gln1356Pro) n.4960A>C n.2351A>C n.6213A>C c.3971A>C (p.Gln1324Pro) c.*4117A>C (n.*4117A>C) c.*4040A>C (n.*4040A>C) c.*4345A>C (n.*4345A>C) c.*4076A>C (n.*4076A>C) c.3677A>C (p.Gln1226Pro) c.2722+577A>C c.4028A>C (p.Gln1343Pro) c.3007A>C n.3312A>C n.4135A>C c.4145A>C (p.Gln1382Pro) c.4124A>C (p.Gln1375Pro) c.4106A>C (p.Gln1369Pro) c.4088A>C (p.Gln1363Pro) c.4049A>C (p.Gln1350Pro) c.4010A>C (p.Gln1337Pro) c.3734A>C (p.Gln1245Pro) c.3695A>C (p.Gln1232Pro) c.4085A>C (p.Gln1362Pro) c.3992A>C (p.Gln1331Pro) c.3467A>C (p.Gln1156Pro) c.3782A>C (p.Gln1261Pro) n.8354A>C | |
3 | g.9475733A>G | CA351693283 | SETD5 | n.2926A>G c.4067A>G (p.Gln1356Arg) n.4960A>G n.2351A>G n.6213A>G c.3971A>G (p.Gln1324Arg) c.*4117A>G (n.*4117A>G) c.*4040A>G (n.*4040A>G) c.*4345A>G (n.*4345A>G) c.*4076A>G (n.*4076A>G) c.3677A>G (p.Gln1226Arg) c.2722+577A>G c.4028A>G (p.Gln1343Arg) c.3007A>G n.3312A>G n.4135A>G c.4145A>G (p.Gln1382Arg) c.4124A>G (p.Gln1375Arg) c.4106A>G (p.Gln1369Arg) c.4088A>G (p.Gln1363Arg) c.4049A>G (p.Gln1350Arg) c.4010A>G (p.Gln1337Arg) c.3734A>G (p.Gln1245Arg) c.3695A>G (p.Gln1232Arg) c.4085A>G (p.Gln1362Arg) c.3992A>G (p.Gln1331Arg) c.3467A>G (p.Gln1156Arg) c.3782A>G (p.Gln1261Arg) n.8354A>G | |
3 | g.9475733A>T | CA351693287 | SETD5 | n.2926A>T c.4067A>T (p.Gln1356Leu) n.4960A>T n.2351A>T n.6213A>T c.3971A>T (p.Gln1324Leu) c.*4117A>T (n.*4117A>T) c.*4040A>T (n.*4040A>T) c.*4345A>T (n.*4345A>T) c.*4076A>T (n.*4076A>T) c.3677A>T (p.Gln1226Leu) c.2722+577A>T c.4028A>T (p.Gln1343Leu) c.3007A>T n.3312A>T n.4135A>T c.4145A>T (p.Gln1382Leu) c.4124A>T (p.Gln1375Leu) c.4106A>T (p.Gln1369Leu) c.4088A>T (p.Gln1363Leu) c.4049A>T (p.Gln1350Leu) c.4010A>T (p.Gln1337Leu) c.3734A>T (p.Gln1245Leu) c.3695A>T (p.Gln1232Leu) c.4085A>T (p.Gln1362Leu) c.3992A>T (p.Gln1331Leu) c.3467A>T (p.Gln1156Leu) c.3782A>T (p.Gln1261Leu) n.8354A>T | |
3 | g.9475734G>A | CA432528407 | SETD5 | n.2927G>A c.4068G>A (p.Gln1356=) n.4961G>A n.2352G>A n.6214G>A c.3972G>A (p.Gln1324=) c.*4118G>A (n.*4118G>A) c.*4041G>A (n.*4041G>A) c.*4346G>A (n.*4346G>A) c.*4077G>A (n.*4077G>A) c.3678G>A (p.Gln1226=) c.2722+578G>A c.4029G>A (p.Gln1343=) c.3008G>A n.3313G>A n.4136G>A c.4146G>A (p.Gln1382=) c.4125G>A (p.Gln1375=) c.4107G>A (p.Gln1369=) c.4089G>A (p.Gln1363=) c.4050G>A (p.Gln1350=) c.4011G>A (p.Gln1337=) c.3735G>A (p.Gln1245=) c.3696G>A (p.Gln1232=) c.4086G>A (p.Gln1362=) c.3993G>A (p.Gln1331=) c.3468G>A (p.Gln1156=) c.3783G>A (p.Gln1261=) n.8355G>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.9475734G>C | CA351693294 | SETD5 | n.2927G>C c.4068G>C (p.Gln1356His) n.4961G>C n.2352G>C n.6214G>C c.3972G>C (p.Gln1324His) c.*4118G>C (n.*4118G>C) c.*4041G>C (n.*4041G>C) c.*4346G>C (n.*4346G>C) c.*4077G>C (n.*4077G>C) c.3678G>C (p.Gln1226His) c.2722+578G>C c.4029G>C (p.Gln1343His) c.3008G>C n.3313G>C n.4136G>C c.4146G>C (p.Gln1382His) c.4125G>C (p.Gln1375His) c.4107G>C (p.Gln1369His) c.4089G>C (p.Gln1363His) c.4050G>C (p.Gln1350His) c.4011G>C (p.Gln1337His) c.3735G>C (p.Gln1245His) c.3696G>C (p.Gln1232His) c.4086G>C (p.Gln1362His) c.3993G>C (p.Gln1331His) c.3468G>C (p.Gln1156His) c.3783G>C (p.Gln1261His) n.8355G>C | |
3 | g.9475734G= | CA1344742766 | SETD5 | n.2927G= c.4068G= (p.Gln1356=) n.4961G= n.2352G= n.6214G= c.3972G= (p.Gln1324=) c.*4118G= (n.*4118G=) c.*4041G= (n.*4041G=) c.*4346G= (n.*4346G=) c.*4077G= (n.*4077G=) c.3678G= (p.Gln1226=) c.2722+578G= c.4029G= (p.Gln1343=) c.3008G= n.3313G= n.4136G= c.4146G= (p.Gln1382=) c.4125G= (p.Gln1375=) c.4107G= (p.Gln1369=) c.4089G= (p.Gln1363=) c.4050G= (p.Gln1350=) c.4011G= (p.Gln1337=) c.3735G= (p.Gln1245=) c.3696G= (p.Gln1232=) c.4086G= (p.Gln1362=) c.3993G= (p.Gln1331=) c.3468G= (p.Gln1156=) c.3783G= (p.Gln1261=) n.8355G= | |
3 | g.9475734G>T | CA351693300 | SETD5 | n.2927G>T c.4068G>T (p.Gln1356His) n.4961G>T n.2352G>T n.6214G>T c.3972G>T (p.Gln1324His) c.*4118G>T (n.*4118G>T) c.*4041G>T (n.*4041G>T) c.*4346G>T (n.*4346G>T) c.*4077G>T (n.*4077G>T) c.3678G>T (p.Gln1226His) c.2722+578G>T c.4029G>T (p.Gln1343His) c.3008G>T n.3313G>T n.4136G>T c.4146G>T (p.Gln1382His) c.4125G>T (p.Gln1375His) c.4107G>T (p.Gln1369His) c.4089G>T (p.Gln1363His) c.4050G>T (p.Gln1350His) c.4011G>T (p.Gln1337His) c.3735G>T (p.Gln1245His) c.3696G>T (p.Gln1232His) c.4086G>T (p.Gln1362His) c.3993G>T (p.Gln1331His) c.3468G>T (p.Gln1156His) c.3783G>T (p.Gln1261His) n.8355G>T | |
3 | g.9475735C>A | CA351693307 | SETD5 | n.2928C>A c.4069C>A (p.Pro1357Thr) n.4962C>A n.2353C>A n.6215C>A c.3973C>A (p.Pro1325Thr) c.*4119C>A (n.*4119C>A) c.*4042C>A (n.*4042C>A) c.*4347C>A (n.*4347C>A) c.*4078C>A (n.*4078C>A) c.3679C>A (p.Pro1227Thr) c.2722+579C>A c.4030C>A (p.Pro1344Thr) c.3009C>A n.3314C>A n.4137C>A c.4147C>A (p.Pro1383Thr) c.4126C>A (p.Pro1376Thr) c.4108C>A (p.Pro1370Thr) c.4090C>A (p.Pro1364Thr) c.4051C>A (p.Pro1351Thr) c.4012C>A (p.Pro1338Thr) c.3736C>A (p.Pro1246Thr) c.3697C>A (p.Pro1233Thr) c.4087C>A (p.Pro1363Thr) c.3994C>A (p.Pro1332Thr) c.3469C>A (p.Pro1157Thr) c.3784C>A (p.Pro1262Thr) n.8356C>A | |
3 | g.9475735C>G | CA351693308 | SETD5 | n.2928C>G c.4069C>G (p.Pro1357Ala) n.4962C>G n.2353C>G n.6215C>G c.3973C>G (p.Pro1325Ala) c.*4119C>G (n.*4119C>G) c.*4042C>G (n.*4042C>G) c.*4347C>G (n.*4347C>G) c.*4078C>G (n.*4078C>G) c.3679C>G (p.Pro1227Ala) c.2722+579C>G c.4030C>G (p.Pro1344Ala) c.3009C>G n.3314C>G n.4137C>G c.4147C>G (p.Pro1383Ala) c.4126C>G (p.Pro1376Ala) c.4108C>G (p.Pro1370Ala) c.4090C>G (p.Pro1364Ala) c.4051C>G (p.Pro1351Ala) c.4012C>G (p.Pro1338Ala) c.3736C>G (p.Pro1246Ala) c.3697C>G (p.Pro1233Ala) c.4087C>G (p.Pro1363Ala) c.3994C>G (p.Pro1332Ala) c.3469C>G (p.Pro1157Ala) c.3784C>G (p.Pro1262Ala) n.8356C>G | |
3 | g.9475735C>T | CA351693310 | SETD5 | n.2928C>T c.4069C>T (p.Pro1357Ser) n.4962C>T n.2353C>T n.6215C>T c.3973C>T (p.Pro1325Ser) c.*4119C>T (n.*4119C>T) c.*4042C>T (n.*4042C>T) c.*4347C>T (n.*4347C>T) c.*4078C>T (n.*4078C>T) c.3679C>T (p.Pro1227Ser) c.2722+579C>T c.4030C>T (p.Pro1344Ser) c.3009C>T n.3314C>T n.4137C>T c.4147C>T (p.Pro1383Ser) c.4126C>T (p.Pro1376Ser) c.4108C>T (p.Pro1370Ser) c.4090C>T (p.Pro1364Ser) c.4051C>T (p.Pro1351Ser) c.4012C>T (p.Pro1338Ser) c.3736C>T (p.Pro1246Ser) c.3697C>T (p.Pro1233Ser) c.4087C>T (p.Pro1363Ser) c.3994C>T (p.Pro1332Ser) c.3469C>T (p.Pro1157Ser) c.3784C>T (p.Pro1262Ser) n.8356C>T | |
3 | g.9475736C>A | CA351693320 | SETD5 | n.2929C>A c.4070C>A (p.Pro1357Gln) n.4963C>A n.2354C>A n.6216C>A c.3974C>A (p.Pro1325Gln) c.*4120C>A (n.*4120C>A) c.*4043C>A (n.*4043C>A) c.*4348C>A (n.*4348C>A) c.*4079C>A (n.*4079C>A) c.3680C>A (p.Pro1227Gln) c.2722+580C>A c.4031C>A (p.Pro1344Gln) c.3010C>A n.3315C>A n.4138C>A c.4148C>A (p.Pro1383Gln) c.4127C>A (p.Pro1376Gln) c.4109C>A (p.Pro1370Gln) c.4091C>A (p.Pro1364Gln) c.4052C>A (p.Pro1351Gln) c.4013C>A (p.Pro1338Gln) c.3737C>A (p.Pro1246Gln) c.3698C>A (p.Pro1233Gln) c.4088C>A (p.Pro1363Gln) c.3995C>A (p.Pro1332Gln) c.3470C>A (p.Pro1157Gln) c.3785C>A (p.Pro1262Gln) n.8357C>A | |
3 | g.9475736C>G | CA351693319 | SETD5 | n.2929C>G c.4070C>G (p.Pro1357Arg) n.4963C>G n.2354C>G n.6216C>G c.3974C>G (p.Pro1325Arg) c.*4120C>G (n.*4120C>G) c.*4043C>G (n.*4043C>G) c.*4348C>G (n.*4348C>G) c.*4079C>G (n.*4079C>G) c.3680C>G (p.Pro1227Arg) c.2722+580C>G c.4031C>G (p.Pro1344Arg) c.3010C>G n.3315C>G n.4138C>G c.4148C>G (p.Pro1383Arg) c.4127C>G (p.Pro1376Arg) c.4109C>G (p.Pro1370Arg) c.4091C>G (p.Pro1364Arg) c.4052C>G (p.Pro1351Arg) c.4013C>G (p.Pro1338Arg) c.3737C>G (p.Pro1246Arg) c.3698C>G (p.Pro1233Arg) c.4088C>G (p.Pro1363Arg) c.3995C>G (p.Pro1332Arg) c.3470C>G (p.Pro1157Arg) c.3785C>G (p.Pro1262Arg) n.8357C>G | dbSNP |
3 | g.9475736C>T | CA351693315 | SETD5 | n.2929C>T c.4070C>T (p.Pro1357Leu) n.4963C>T n.2354C>T n.6216C>T c.3974C>T (p.Pro1325Leu) c.*4120C>T (n.*4120C>T) c.*4043C>T (n.*4043C>T) c.*4348C>T (n.*4348C>T) c.*4079C>T (n.*4079C>T) c.3680C>T (p.Pro1227Leu) c.2722+580C>T c.4031C>T (p.Pro1344Leu) c.3010C>T n.3315C>T n.4138C>T c.4148C>T (p.Pro1383Leu) c.4127C>T (p.Pro1376Leu) c.4109C>T (p.Pro1370Leu) c.4091C>T (p.Pro1364Leu) c.4052C>T (p.Pro1351Leu) c.4013C>T (p.Pro1338Leu) c.3737C>T (p.Pro1246Leu) c.3698C>T (p.Pro1233Leu) c.4088C>T (p.Pro1363Leu) c.3995C>T (p.Pro1332Leu) c.3470C>T (p.Pro1157Leu) c.3785C>T (p.Pro1262Leu) n.8357C>T | |
3 | g.9475737A= | CA1344742768 | SETD5 | n.2930A= c.4071A= (p.Pro1357=) n.4964A= n.2355A= n.6217A= c.3975A= (p.Pro1325=) c.*4121A= (n.*4121A=) c.*4044A= (n.*4044A=) c.*4349A= (n.*4349A=) c.*4080A= (n.*4080A=) c.3681A= (p.Pro1227=) c.2722+581A= c.4032A= (p.Pro1344=) c.3011A= n.3316A= n.4139A= c.4149A= (p.Pro1383=) c.4128A= (p.Pro1376=) c.4110A= (p.Pro1370=) c.4092A= (p.Pro1364=) c.4053A= (p.Pro1351=) c.4014A= (p.Pro1338=) c.3738A= (p.Pro1246=) c.3699A= (p.Pro1233=) c.4089A= (p.Pro1363=) c.3996A= (p.Pro1332=) c.3471A= (p.Pro1157=) c.3786A= (p.Pro1262=) n.8358A= | |
3 | g.9475737A>C | CA432528414 | SETD5 | n.2930A>C c.4071A>C (p.Pro1357=) n.4964A>C n.2355A>C n.6217A>C c.3975A>C (p.Pro1325=) c.*4121A>C (n.*4121A>C) c.*4044A>C (n.*4044A>C) c.*4349A>C (n.*4349A>C) c.*4080A>C (n.*4080A>C) c.3681A>C (p.Pro1227=) c.2722+581A>C c.4032A>C (p.Pro1344=) c.3011A>C n.3316A>C n.4139A>C c.4149A>C (p.Pro1383=) c.4128A>C (p.Pro1376=) c.4110A>C (p.Pro1370=) c.4092A>C (p.Pro1364=) c.4053A>C (p.Pro1351=) c.4014A>C (p.Pro1338=) c.3738A>C (p.Pro1246=) c.3699A>C (p.Pro1233=) c.4089A>C (p.Pro1363=) c.3996A>C (p.Pro1332=) c.3471A>C (p.Pro1157=) c.3786A>C (p.Pro1262=) n.8358A>C | |
3 | g.9475737A>G | CA432528415 | SETD5 | n.2930A>G c.4071A>G (p.Pro1357=) n.4964A>G n.2355A>G n.6217A>G c.3975A>G (p.Pro1325=) c.*4121A>G (n.*4121A>G) c.*4044A>G (n.*4044A>G) c.*4349A>G (n.*4349A>G) c.*4080A>G (n.*4080A>G) c.3681A>G (p.Pro1227=) c.2722+581A>G c.4032A>G (p.Pro1344=) c.3011A>G n.3316A>G n.4139A>G c.4149A>G (p.Pro1383=) c.4128A>G (p.Pro1376=) c.4110A>G (p.Pro1370=) c.4092A>G (p.Pro1364=) c.4053A>G (p.Pro1351=) c.4014A>G (p.Pro1338=) c.3738A>G (p.Pro1246=) c.3699A>G (p.Pro1233=) c.4089A>G (p.Pro1363=) c.3996A>G (p.Pro1332=) c.3471A>G (p.Pro1157=) c.3786A>G (p.Pro1262=) n.8358A>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.9475737A>T | CA432528416 | SETD5 | n.2930A>T c.4071A>T (p.Pro1357=) n.4964A>T n.2355A>T n.6217A>T c.3975A>T (p.Pro1325=) c.*4121A>T (n.*4121A>T) c.*4044A>T (n.*4044A>T) c.*4349A>T (n.*4349A>T) c.*4080A>T (n.*4080A>T) c.3681A>T (p.Pro1227=) c.2722+581A>T c.4032A>T (p.Pro1344=) c.3011A>T n.3316A>T n.4139A>T c.4149A>T (p.Pro1383=) c.4128A>T (p.Pro1376=) c.4110A>T (p.Pro1370=) c.4092A>T (p.Pro1364=) c.4053A>T (p.Pro1351=) c.4014A>T (p.Pro1338=) c.3738A>T (p.Pro1246=) c.3699A>T (p.Pro1233=) c.4089A>T (p.Pro1363=) c.3996A>T (p.Pro1332=) c.3471A>T (p.Pro1157=) c.3786A>T (p.Pro1262=) n.8358A>T | |
3 | g.9475738C>A | CA351693321 | SETD5 | n.2931C>A c.4072C>A (p.His1358Asn) n.4965C>A n.2356C>A n.6218C>A c.3976C>A (p.His1326Asn) c.*4122C>A (n.*4122C>A) c.*4045C>A (n.*4045C>A) c.*4350C>A (n.*4350C>A) c.*4081C>A (n.*4081C>A) c.3682C>A (p.His1228Asn) c.2722+582C>A c.4033C>A (p.His1345Asn) c.3012C>A n.3317C>A n.4140C>A c.4150C>A (p.His1384Asn) c.4129C>A (p.His1377Asn) c.4111C>A (p.His1371Asn) c.4093C>A (p.His1365Asn) c.4054C>A (p.His1352Asn) c.4015C>A (p.His1339Asn) c.3739C>A (p.His1247Asn) c.3700C>A (p.His1234Asn) c.4090C>A (p.His1364Asn) c.3997C>A (p.His1333Asn) c.3472C>A (p.His1158Asn) c.3787C>A (p.His1263Asn) n.8359C>A | |
3 | g.9475738C= | CA1344742770 | SETD5 | n.2931C= c.4072C= (p.His1358=) n.4965C= n.2356C= n.6218C= c.3976C= (p.His1326=) c.*4122C= (n.*4122C=) c.*4045C= (n.*4045C=) c.*4350C= (n.*4350C=) c.*4081C= (n.*4081C=) c.3682C= (p.His1228=) c.2722+582C= c.4033C= (p.His1345=) c.3012C= n.3317C= n.4140C= c.4150C= (p.His1384=) c.4129C= (p.His1377=) c.4111C= (p.His1371=) c.4093C= (p.His1365=) c.4054C= (p.His1352=) c.4015C= (p.His1339=) c.3739C= (p.His1247=) c.3700C= (p.His1234=) c.4090C= (p.His1364=) c.3997C= (p.His1333=) c.3472C= (p.His1158=) c.3787C= (p.His1263=) n.8359C= | |
3 | g.9475738C>G | CA351693335 | SETD5 | n.2931C>G c.4072C>G (p.His1358Asp) n.4965C>G n.2356C>G n.6218C>G c.3976C>G (p.His1326Asp) c.*4122C>G (n.*4122C>G) c.*4045C>G (n.*4045C>G) c.*4350C>G (n.*4350C>G) c.*4081C>G (n.*4081C>G) c.3682C>G (p.His1228Asp) c.2722+582C>G c.4033C>G (p.His1345Asp) c.3012C>G n.3317C>G n.4140C>G c.4150C>G (p.His1384Asp) c.4129C>G (p.His1377Asp) c.4111C>G (p.His1371Asp) c.4093C>G (p.His1365Asp) c.4054C>G (p.His1352Asp) c.4015C>G (p.His1339Asp) c.3739C>G (p.His1247Asp) c.3700C>G (p.His1234Asp) c.4090C>G (p.His1364Asp) c.3997C>G (p.His1333Asp) c.3472C>G (p.His1158Asp) c.3787C>G (p.His1263Asp) n.8359C>G | |
3 | g.9475738C>T | CA69951986 | SETD5 | n.2931C>T c.4072C>T (p.His1358Tyr) n.4965C>T n.2356C>T n.6218C>T c.3976C>T (p.His1326Tyr) c.*4122C>T (n.*4122C>T) c.*4045C>T (n.*4045C>T) c.*4350C>T (n.*4350C>T) c.*4081C>T (n.*4081C>T) c.3682C>T (p.His1228Tyr) c.2722+582C>T c.4033C>T (p.His1345Tyr) c.3012C>T n.3317C>T n.4140C>T c.4150C>T (p.His1384Tyr) c.4129C>T (p.His1377Tyr) c.4111C>T (p.His1371Tyr) c.4093C>T (p.His1365Tyr) c.4054C>T (p.His1352Tyr) c.4015C>T (p.His1339Tyr) c.3739C>T (p.His1247Tyr) c.3700C>T (p.His1234Tyr) c.4090C>T (p.His1364Tyr) c.3997C>T (p.His1333Tyr) c.3472C>T (p.His1158Tyr) c.3787C>T (p.His1263Tyr) n.8359C>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.9475739A= | CA1344742776 | SETD5 | n.2932A= c.4073A= (p.His1358=) n.4966A= n.2357A= n.6219A= c.3977A= (p.His1326=) c.*4123A= (n.*4123A=) c.*4046A= (n.*4046A=) c.*4351A= (n.*4351A=) c.*4082A= (n.*4082A=) c.3683A= (p.His1228=) c.2722+583A= c.4034A= (p.His1345=) c.3013A= n.3318A= n.4141A= c.4151A= (p.His1384=) c.4130A= (p.His1377=) c.4112A= (p.His1371=) c.4094A= (p.His1365=) c.4055A= (p.His1352=) c.4016A= (p.His1339=) c.3740A= (p.His1247=) c.3701A= (p.His1234=) c.4091A= (p.His1364=) c.3998A= (p.His1333=) c.3473A= (p.His1158=) c.3788A= (p.His1263=) n.8360A= | |
3 | g.9475739A>C | CA351693356 | SETD5 | n.2932A>C c.4073A>C (p.His1358Pro) n.4966A>C n.2357A>C n.6219A>C c.3977A>C (p.His1326Pro) c.*4123A>C (n.*4123A>C) c.*4046A>C (n.*4046A>C) c.*4351A>C (n.*4351A>C) c.*4082A>C (n.*4082A>C) c.3683A>C (p.His1228Pro) c.2722+583A>C c.4034A>C (p.His1345Pro) c.3013A>C n.3318A>C n.4141A>C c.4151A>C (p.His1384Pro) c.4130A>C (p.His1377Pro) c.4112A>C (p.His1371Pro) c.4094A>C (p.His1365Pro) c.4055A>C (p.His1352Pro) c.4016A>C (p.His1339Pro) c.3740A>C (p.His1247Pro) c.3701A>C (p.His1234Pro) c.4091A>C (p.His1364Pro) c.3998A>C (p.His1333Pro) c.3473A>C (p.His1158Pro) c.3788A>C (p.His1263Pro) n.8360A>C | |
3 | g.9475739A>G | CA2239843 | SETD5 | n.2932A>G c.4073A>G (p.His1358Arg) n.4966A>G n.2357A>G n.6219A>G c.3977A>G (p.His1326Arg) c.*4123A>G (n.*4123A>G) c.*4046A>G (n.*4046A>G) c.*4351A>G (n.*4351A>G) c.*4082A>G (n.*4082A>G) c.3683A>G (p.His1228Arg) c.2722+583A>G c.4034A>G (p.His1345Arg) c.3013A>G n.3318A>G n.4141A>G c.4151A>G (p.His1384Arg) c.4130A>G (p.His1377Arg) c.4112A>G (p.His1371Arg) c.4094A>G (p.His1365Arg) c.4055A>G (p.His1352Arg) c.4016A>G (p.His1339Arg) c.3740A>G (p.His1247Arg) c.3701A>G (p.His1234Arg) c.4091A>G (p.His1364Arg) c.3998A>G (p.His1333Arg) c.3473A>G (p.His1158Arg) c.3788A>G (p.His1263Arg) n.8360A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475739A>T | CA351693378 | SETD5 | n.2932A>T c.4073A>T (p.His1358Leu) n.4966A>T n.2357A>T n.6219A>T c.3977A>T (p.His1326Leu) c.*4123A>T (n.*4123A>T) c.*4046A>T (n.*4046A>T) c.*4351A>T (n.*4351A>T) c.*4082A>T (n.*4082A>T) c.3683A>T (p.His1228Leu) c.2722+583A>T c.4034A>T (p.His1345Leu) c.3013A>T n.3318A>T n.4141A>T c.4151A>T (p.His1384Leu) c.4130A>T (p.His1377Leu) c.4112A>T (p.His1371Leu) c.4094A>T (p.His1365Leu) c.4055A>T (p.His1352Leu) c.4016A>T (p.His1339Leu) c.3740A>T (p.His1247Leu) c.3701A>T (p.His1234Leu) c.4091A>T (p.His1364Leu) c.3998A>T (p.His1333Leu) c.3473A>T (p.His1158Leu) c.3788A>T (p.His1263Leu) n.8360A>T | |
3 | g.9475740T>A | CA351693381 | SETD5 | n.2933T>A c.4074T>A (p.His1358Gln) n.4967T>A n.2358T>A n.6220T>A c.3978T>A (p.His1326Gln) c.*4124T>A (n.*4124T>A) c.*4047T>A (n.*4047T>A) c.*4352T>A (n.*4352T>A) c.*4083T>A (n.*4083T>A) c.3684T>A (p.His1228Gln) c.2722+584T>A c.4035T>A (p.His1345Gln) c.3014T>A n.3319T>A n.4142T>A c.4152T>A (p.His1384Gln) c.4131T>A (p.His1377Gln) c.4113T>A (p.His1371Gln) c.4095T>A (p.His1365Gln) c.4056T>A (p.His1352Gln) c.4017T>A (p.His1339Gln) c.3741T>A (p.His1247Gln) c.3702T>A (p.His1234Gln) c.4092T>A (p.His1364Gln) c.3999T>A (p.His1333Gln) c.3474T>A (p.His1158Gln) c.3789T>A (p.His1263Gln) n.8361T>A | |
3 | g.9475740T>C | CA432528421 | SETD5 | n.2933T>C c.4074T>C (p.His1358=) n.4967T>C n.2358T>C n.6220T>C c.3978T>C (p.His1326=) c.*4124T>C (n.*4124T>C) c.*4047T>C (n.*4047T>C) c.*4352T>C (n.*4352T>C) c.*4083T>C (n.*4083T>C) c.3684T>C (p.His1228=) c.2722+584T>C c.4035T>C (p.His1345=) c.3014T>C n.3319T>C n.4142T>C c.4152T>C (p.His1384=) c.4131T>C (p.His1377=) c.4113T>C (p.His1371=) c.4095T>C (p.His1365=) c.4056T>C (p.His1352=) c.4017T>C (p.His1339=) c.3741T>C (p.His1247=) c.3702T>C (p.His1234=) c.4092T>C (p.His1364=) c.3999T>C (p.His1333=) c.3474T>C (p.His1158=) c.3789T>C (p.His1263=) n.8361T>C | |
3 | g.9475740T>G | CA351693389 | SETD5 | n.2933T>G c.4074T>G (p.His1358Gln) n.4967T>G n.2358T>G n.6220T>G c.3978T>G (p.His1326Gln) c.*4124T>G (n.*4124T>G) c.*4047T>G (n.*4047T>G) c.*4352T>G (n.*4352T>G) c.*4083T>G (n.*4083T>G) c.3684T>G (p.His1228Gln) c.2722+584T>G c.4035T>G (p.His1345Gln) c.3014T>G n.3319T>G n.4142T>G c.4152T>G (p.His1384Gln) c.4131T>G (p.His1377Gln) c.4113T>G (p.His1371Gln) c.4095T>G (p.His1365Gln) c.4056T>G (p.His1352Gln) c.4017T>G (p.His1339Gln) c.3741T>G (p.His1247Gln) c.3702T>G (p.His1234Gln) c.4092T>G (p.His1364Gln) c.3999T>G (p.His1333Gln) c.3474T>G (p.His1158Gln) c.3789T>G (p.His1263Gln) n.8361T>G | |
3 | g.9475741T>A | CA351693396 | SETD5 | n.2934T>A c.4075T>A (p.Ser1359Thr) n.4968T>A n.2359T>A n.6221T>A c.3979T>A (p.Ser1327Thr) c.*4125T>A (n.*4125T>A) c.*4048T>A (n.*4048T>A) c.*4353T>A (n.*4353T>A) c.*4084T>A (n.*4084T>A) c.3685T>A (p.Ser1229Thr) c.2722+585T>A c.4036T>A (p.Ser1346Thr) c.3015T>A n.3320T>A n.4143T>A c.4153T>A (p.Ser1385Thr) c.4132T>A (p.Ser1378Thr) c.4114T>A (p.Ser1372Thr) c.4096T>A (p.Ser1366Thr) c.4057T>A (p.Ser1353Thr) c.4018T>A (p.Ser1340Thr) c.3742T>A (p.Ser1248Thr) c.3703T>A (p.Ser1235Thr) c.4093T>A (p.Ser1365Thr) c.4000T>A (p.Ser1334Thr) c.3475T>A (p.Ser1159Thr) c.3790T>A (p.Ser1264Thr) n.8362T>A | |
3 | g.9475741T>C | CA351693400 | SETD5 | n.2934T>C c.4075T>C (p.Ser1359Pro) n.4968T>C n.2359T>C n.6221T>C c.3979T>C (p.Ser1327Pro) c.*4125T>C (n.*4125T>C) c.*4048T>C (n.*4048T>C) c.*4353T>C (n.*4353T>C) c.*4084T>C (n.*4084T>C) c.3685T>C (p.Ser1229Pro) c.2722+585T>C c.4036T>C (p.Ser1346Pro) c.3015T>C n.3320T>C n.4143T>C c.4153T>C (p.Ser1385Pro) c.4132T>C (p.Ser1378Pro) c.4114T>C (p.Ser1372Pro) c.4096T>C (p.Ser1366Pro) c.4057T>C (p.Ser1353Pro) c.4018T>C (p.Ser1340Pro) c.3742T>C (p.Ser1248Pro) c.3703T>C (p.Ser1235Pro) c.4093T>C (p.Ser1365Pro) c.4000T>C (p.Ser1334Pro) c.3475T>C (p.Ser1159Pro) c.3790T>C (p.Ser1264Pro) n.8362T>C | |
3 | g.9475741T>G | CA351693408 | SETD5 | n.2934T>G c.4075T>G (p.Ser1359Ala) n.4968T>G n.2359T>G n.6221T>G c.3979T>G (p.Ser1327Ala) c.*4125T>G (n.*4125T>G) c.*4048T>G (n.*4048T>G) c.*4353T>G (n.*4353T>G) c.*4084T>G (n.*4084T>G) c.3685T>G (p.Ser1229Ala) c.2722+585T>G c.4036T>G (p.Ser1346Ala) c.3015T>G n.3320T>G n.4143T>G c.4153T>G (p.Ser1385Ala) c.4132T>G (p.Ser1378Ala) c.4114T>G (p.Ser1372Ala) c.4096T>G (p.Ser1366Ala) c.4057T>G (p.Ser1353Ala) c.4018T>G (p.Ser1340Ala) c.3742T>G (p.Ser1248Ala) c.3703T>G (p.Ser1235Ala) c.4093T>G (p.Ser1365Ala) c.4000T>G (p.Ser1334Ala) c.3475T>G (p.Ser1159Ala) c.3790T>G (p.Ser1264Ala) n.8362T>G | |
3 | g.9475742C>A | CA351693412 | SETD5 | n.2935C>A c.4076C>A (p.Ser1359Tyr) n.4969C>A n.2360C>A n.6222C>A c.3980C>A (p.Ser1327Tyr) c.*4126C>A (n.*4126C>A) c.*4049C>A (n.*4049C>A) c.*4354C>A (n.*4354C>A) c.*4085C>A (n.*4085C>A) c.3686C>A (p.Ser1229Tyr) c.2722+586C>A c.4037C>A (p.Ser1346Tyr) c.3016C>A n.3321C>A n.4144C>A c.4154C>A (p.Ser1385Tyr) c.4133C>A (p.Ser1378Tyr) c.4115C>A (p.Ser1372Tyr) c.4097C>A (p.Ser1366Tyr) c.4058C>A (p.Ser1353Tyr) c.4019C>A (p.Ser1340Tyr) c.3743C>A (p.Ser1248Tyr) c.3704C>A (p.Ser1235Tyr) c.4094C>A (p.Ser1365Tyr) c.4001C>A (p.Ser1334Tyr) c.3476C>A (p.Ser1159Tyr) c.3791C>A (p.Ser1264Tyr) n.8363C>A | |
3 | g.9475742C>G | CA351693415 | SETD5 | n.2935C>G c.4076C>G (p.Ser1359Cys) n.4969C>G n.2360C>G n.6222C>G c.3980C>G (p.Ser1327Cys) c.*4126C>G (n.*4126C>G) c.*4049C>G (n.*4049C>G) c.*4354C>G (n.*4354C>G) c.*4085C>G (n.*4085C>G) c.3686C>G (p.Ser1229Cys) c.2722+586C>G c.4037C>G (p.Ser1346Cys) c.3016C>G n.3321C>G n.4144C>G c.4154C>G (p.Ser1385Cys) c.4133C>G (p.Ser1378Cys) c.4115C>G (p.Ser1372Cys) c.4097C>G (p.Ser1366Cys) c.4058C>G (p.Ser1353Cys) c.4019C>G (p.Ser1340Cys) c.3743C>G (p.Ser1248Cys) c.3704C>G (p.Ser1235Cys) c.4094C>G (p.Ser1365Cys) c.4001C>G (p.Ser1334Cys) c.3476C>G (p.Ser1159Cys) c.3791C>G (p.Ser1264Cys) n.8363C>G | COSMIC COSMIC |
3 | g.9475742C>T | CA351693419 | SETD5 | n.2935C>T c.4076C>T (p.Ser1359Phe) n.4969C>T n.2360C>T n.6222C>T c.3980C>T (p.Ser1327Phe) c.*4126C>T (n.*4126C>T) c.*4049C>T (n.*4049C>T) c.*4354C>T (n.*4354C>T) c.*4085C>T (n.*4085C>T) c.3686C>T (p.Ser1229Phe) c.2722+586C>T c.4037C>T (p.Ser1346Phe) c.3016C>T n.3321C>T n.4144C>T c.4154C>T (p.Ser1385Phe) c.4133C>T (p.Ser1378Phe) c.4115C>T (p.Ser1372Phe) c.4097C>T (p.Ser1366Phe) c.4058C>T (p.Ser1353Phe) c.4019C>T (p.Ser1340Phe) c.3743C>T (p.Ser1248Phe) c.3704C>T (p.Ser1235Phe) c.4094C>T (p.Ser1365Phe) c.4001C>T (p.Ser1334Phe) c.3476C>T (p.Ser1159Phe) c.3791C>T (p.Ser1264Phe) n.8363C>T | gnomAD v4 |
3 | g.9475743T>A | CA432528429 | SETD5 | n.2936T>A c.4077T>A (p.Ser1359=) n.4970T>A n.2361T>A n.6223T>A c.3981T>A (p.Ser1327=) c.*4127T>A (n.*4127T>A) c.*4050T>A (n.*4050T>A) c.*4355T>A (n.*4355T>A) c.*4086T>A (n.*4086T>A) c.3687T>A (p.Ser1229=) c.2722+587T>A c.4038T>A (p.Ser1346=) c.3017T>A n.3322T>A n.4145T>A c.4155T>A (p.Ser1385=) c.4134T>A (p.Ser1378=) c.4116T>A (p.Ser1372=) c.4098T>A (p.Ser1366=) c.4059T>A (p.Ser1353=) c.4020T>A (p.Ser1340=) c.3744T>A (p.Ser1248=) c.3705T>A (p.Ser1235=) c.4095T>A (p.Ser1365=) c.4002T>A (p.Ser1334=) c.3477T>A (p.Ser1159=) c.3792T>A (p.Ser1264=) n.8364T>A | |
3 | g.9475743T>C | CA432528428 | SETD5 | n.2936T>C c.4077T>C (p.Ser1359=) n.4970T>C n.2361T>C n.6223T>C c.3981T>C (p.Ser1327=) c.*4127T>C (n.*4127T>C) c.*4050T>C (n.*4050T>C) c.*4355T>C (n.*4355T>C) c.*4086T>C (n.*4086T>C) c.3687T>C (p.Ser1229=) c.2722+587T>C c.4038T>C (p.Ser1346=) c.3017T>C n.3322T>C n.4145T>C c.4155T>C (p.Ser1385=) c.4134T>C (p.Ser1378=) c.4116T>C (p.Ser1372=) c.4098T>C (p.Ser1366=) c.4059T>C (p.Ser1353=) c.4020T>C (p.Ser1340=) c.3744T>C (p.Ser1248=) c.3705T>C (p.Ser1235=) c.4095T>C (p.Ser1365=) c.4002T>C (p.Ser1334=) c.3477T>C (p.Ser1159=) c.3792T>C (p.Ser1264=) n.8364T>C | COSMIC |
3 | g.9475743T>G | CA432528427 | SETD5 | n.2936T>G c.4077T>G (p.Ser1359=) n.4970T>G n.2361T>G n.6223T>G c.3981T>G (p.Ser1327=) c.*4127T>G (n.*4127T>G) c.*4050T>G (n.*4050T>G) c.*4355T>G (n.*4355T>G) c.*4086T>G (n.*4086T>G) c.3687T>G (p.Ser1229=) c.2722+587T>G c.4038T>G (p.Ser1346=) c.3017T>G n.3322T>G n.4145T>G c.4155T>G (p.Ser1385=) c.4134T>G (p.Ser1378=) c.4116T>G (p.Ser1372=) c.4098T>G (p.Ser1366=) c.4059T>G (p.Ser1353=) c.4020T>G (p.Ser1340=) c.3744T>G (p.Ser1248=) c.3705T>G (p.Ser1235=) c.4095T>G (p.Ser1365=) c.4002T>G (p.Ser1334=) c.3477T>G (p.Ser1159=) c.3792T>G (p.Ser1264=) n.8364T>G | |
3 | g.9475744G>A | CA351693425 | SETD5 | n.2937G>A c.4078G>A (p.Gly1360Arg) n.4971G>A n.2362G>A n.6224G>A c.3982G>A (p.Gly1328Arg) c.*4128G>A (n.*4128G>A) c.*4051G>A (n.*4051G>A) c.*4356G>A (n.*4356G>A) c.*4087G>A (n.*4087G>A) c.3688G>A (p.Gly1230Arg) c.2722+588G>A c.4039G>A (p.Gly1347Arg) c.3018G>A n.3323G>A n.4146G>A c.4156G>A (p.Gly1386Arg) c.4135G>A (p.Gly1379Arg) c.4117G>A (p.Gly1373Arg) c.4099G>A (p.Gly1367Arg) c.4060G>A (p.Gly1354Arg) c.4021G>A (p.Gly1341Arg) c.3745G>A (p.Gly1249Arg) c.3706G>A (p.Gly1236Arg) c.4096G>A (p.Gly1366Arg) c.4003G>A (p.Gly1335Arg) c.3478G>A (p.Gly1160Arg) c.3793G>A (p.Gly1265Arg) n.8365G>A | |
3 | g.9475744G>C | CA351693420 | SETD5 | n.2937G>C c.4078G>C (p.Gly1360Arg) n.4971G>C n.2362G>C n.6224G>C c.3982G>C (p.Gly1328Arg) c.*4128G>C (n.*4128G>C) c.*4051G>C (n.*4051G>C) c.*4356G>C (n.*4356G>C) c.*4087G>C (n.*4087G>C) c.3688G>C (p.Gly1230Arg) c.2722+588G>C c.4039G>C (p.Gly1347Arg) c.3018G>C n.3323G>C n.4146G>C c.4156G>C (p.Gly1386Arg) c.4135G>C (p.Gly1379Arg) c.4117G>C (p.Gly1373Arg) c.4099G>C (p.Gly1367Arg) c.4060G>C (p.Gly1354Arg) c.4021G>C (p.Gly1341Arg) c.3745G>C (p.Gly1249Arg) c.3706G>C (p.Gly1236Arg) c.4096G>C (p.Gly1366Arg) c.4003G>C (p.Gly1335Arg) c.3478G>C (p.Gly1160Arg) c.3793G>C (p.Gly1265Arg) n.8365G>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.9475744G= | CA1344742779 | SETD5 | n.2937G= c.4078G= (p.Gly1360=) n.4971G= n.2362G= n.6224G= c.3982G= (p.Gly1328=) c.*4128G= (n.*4128G=) c.*4051G= (n.*4051G=) c.*4356G= (n.*4356G=) c.*4087G= (n.*4087G=) c.3688G= (p.Gly1230=) c.2722+588G= c.4039G= (p.Gly1347=) c.3018G= n.3323G= n.4146G= c.4156G= (p.Gly1386=) c.4135G= (p.Gly1379=) c.4117G= (p.Gly1373=) c.4099G= (p.Gly1367=) c.4060G= (p.Gly1354=) c.4021G= (p.Gly1341=) c.3745G= (p.Gly1249=) c.3706G= (p.Gly1236=) c.4096G= (p.Gly1366=) c.4003G= (p.Gly1335=) c.3478G= (p.Gly1160=) c.3793G= (p.Gly1265=) n.8365G= | |
3 | g.9475744G>T | CA351693421 | SETD5 | n.2937G>T c.4078G>T (p.Gly1360Ter) n.4971G>T n.2362G>T n.6224G>T c.3982G>T (p.Gly1328Ter) c.*4128G>T (n.*4128G>T) c.*4051G>T (n.*4051G>T) c.*4356G>T (n.*4356G>T) c.*4087G>T (n.*4087G>T) c.3688G>T (p.Gly1230Ter) c.2722+588G>T c.4039G>T (p.Gly1347Ter) c.3018G>T n.3323G>T n.4146G>T c.4156G>T (p.Gly1386Ter) c.4135G>T (p.Gly1379Ter) c.4117G>T (p.Gly1373Ter) c.4099G>T (p.Gly1367Ter) c.4060G>T (p.Gly1354Ter) c.4021G>T (p.Gly1341Ter) c.3745G>T (p.Gly1249Ter) c.3706G>T (p.Gly1236Ter) c.4096G>T (p.Gly1366Ter) c.4003G>T (p.Gly1335Ter) c.3478G>T (p.Gly1160Ter) c.3793G>T (p.Gly1265Ter) n.8365G>T | |
3 | g.9475745G>A | CA351693433 | SETD5 | n.2938G>A c.4079G>A (p.Gly1360Glu) n.4972G>A n.2363G>A n.6225G>A c.3983G>A (p.Gly1328Glu) c.*4129G>A (n.*4129G>A) c.*4052G>A (n.*4052G>A) c.*4357G>A (n.*4357G>A) c.*4088G>A (n.*4088G>A) c.3689G>A (p.Gly1230Glu) c.2722+589G>A c.4040G>A (p.Gly1347Glu) c.3019G>A n.3324G>A n.4147G>A c.4157G>A (p.Gly1386Glu) c.4136G>A (p.Gly1379Glu) c.4118G>A (p.Gly1373Glu) c.4100G>A (p.Gly1367Glu) c.4061G>A (p.Gly1354Glu) c.4022G>A (p.Gly1341Glu) c.3746G>A (p.Gly1249Glu) c.3707G>A (p.Gly1236Glu) c.4097G>A (p.Gly1366Glu) c.4004G>A (p.Gly1335Glu) c.3479G>A (p.Gly1160Glu) c.3794G>A (p.Gly1265Glu) n.8366G>A | |
3 | g.9475745G>C | CA351693435 | SETD5 | n.2938G>C c.4079G>C (p.Gly1360Ala) n.4972G>C n.2363G>C n.6225G>C c.3983G>C (p.Gly1328Ala) c.*4129G>C (n.*4129G>C) c.*4052G>C (n.*4052G>C) c.*4357G>C (n.*4357G>C) c.*4088G>C (n.*4088G>C) c.3689G>C (p.Gly1230Ala) c.2722+589G>C c.4040G>C (p.Gly1347Ala) c.3019G>C n.3324G>C n.4147G>C c.4157G>C (p.Gly1386Ala) c.4136G>C (p.Gly1379Ala) c.4118G>C (p.Gly1373Ala) c.4100G>C (p.Gly1367Ala) c.4061G>C (p.Gly1354Ala) c.4022G>C (p.Gly1341Ala) c.3746G>C (p.Gly1249Ala) c.3707G>C (p.Gly1236Ala) c.4097G>C (p.Gly1366Ala) c.4004G>C (p.Gly1335Ala) c.3479G>C (p.Gly1160Ala) c.3794G>C (p.Gly1265Ala) n.8366G>C | |
3 | g.9475745G>T | CA351693437 | SETD5 | n.2938G>T c.4079G>T (p.Gly1360Val) n.4972G>T n.2363G>T n.6225G>T c.3983G>T (p.Gly1328Val) c.*4129G>T (n.*4129G>T) c.*4052G>T (n.*4052G>T) c.*4357G>T (n.*4357G>T) c.*4088G>T (n.*4088G>T) c.3689G>T (p.Gly1230Val) c.2722+589G>T c.4040G>T (p.Gly1347Val) c.3019G>T n.3324G>T n.4147G>T c.4157G>T (p.Gly1386Val) c.4136G>T (p.Gly1379Val) c.4118G>T (p.Gly1373Val) c.4100G>T (p.Gly1367Val) c.4061G>T (p.Gly1354Val) c.4022G>T (p.Gly1341Val) c.3746G>T (p.Gly1249Val) c.3707G>T (p.Gly1236Val) c.4097G>T (p.Gly1366Val) c.4004G>T (p.Gly1335Val) c.3479G>T (p.Gly1160Val) c.3794G>T (p.Gly1265Val) n.8366G>T | gnomAD v4 |
3 | g.9475746A>C | CA432528431 | SETD5 | n.2939A>C c.4080A>C (p.Gly1360=) n.4973A>C n.2364A>C n.6226A>C c.3984A>C (p.Gly1328=) c.*4130A>C (n.*4130A>C) c.*4053A>C (n.*4053A>C) c.*4358A>C (n.*4358A>C) c.*4089A>C (n.*4089A>C) c.3690A>C (p.Gly1230=) c.2722+590A>C c.4041A>C (p.Gly1347=) c.3020A>C n.3325A>C n.4148A>C c.4158A>C (p.Gly1386=) c.4137A>C (p.Gly1379=) c.4119A>C (p.Gly1373=) c.4101A>C (p.Gly1367=) c.4062A>C (p.Gly1354=) c.4023A>C (p.Gly1341=) c.3747A>C (p.Gly1249=) c.3708A>C (p.Gly1236=) c.4098A>C (p.Gly1366=) c.4005A>C (p.Gly1335=) c.3480A>C (p.Gly1160=) c.3795A>C (p.Gly1265=) n.8367A>C | |
3 | g.9475746A>G | CA432528432 | SETD5 | n.2939A>G c.4080A>G (p.Gly1360=) n.4973A>G n.2364A>G n.6226A>G c.3984A>G (p.Gly1328=) c.*4130A>G (n.*4130A>G) c.*4053A>G (n.*4053A>G) c.*4358A>G (n.*4358A>G) c.*4089A>G (n.*4089A>G) c.3690A>G (p.Gly1230=) c.2722+590A>G c.4041A>G (p.Gly1347=) c.3020A>G n.3325A>G n.4148A>G c.4158A>G (p.Gly1386=) c.4137A>G (p.Gly1379=) c.4119A>G (p.Gly1373=) c.4101A>G (p.Gly1367=) c.4062A>G (p.Gly1354=) c.4023A>G (p.Gly1341=) c.3747A>G (p.Gly1249=) c.3708A>G (p.Gly1236=) c.4098A>G (p.Gly1366=) c.4005A>G (p.Gly1335=) c.3480A>G (p.Gly1160=) c.3795A>G (p.Gly1265=) n.8367A>G | |
3 | g.9475746A>T | CA432528433 | SETD5 | n.2939A>T c.4080A>T (p.Gly1360=) n.4973A>T n.2364A>T n.6226A>T c.3984A>T (p.Gly1328=) c.*4130A>T (n.*4130A>T) c.*4053A>T (n.*4053A>T) c.*4358A>T (n.*4358A>T) c.*4089A>T (n.*4089A>T) c.3690A>T (p.Gly1230=) c.2722+590A>T c.4041A>T (p.Gly1347=) c.3020A>T n.3325A>T n.4148A>T c.4158A>T (p.Gly1386=) c.4137A>T (p.Gly1379=) c.4119A>T (p.Gly1373=) c.4101A>T (p.Gly1367=) c.4062A>T (p.Gly1354=) c.4023A>T (p.Gly1341=) c.3747A>T (p.Gly1249=) c.3708A>T (p.Gly1236=) c.4098A>T (p.Gly1366=) c.4005A>T (p.Gly1335=) c.3480A>T (p.Gly1160=) c.3795A>T (p.Gly1265=) n.8367A>T | |
3 | g.9475748del | CA432528435 | SETD5 | n.2941del c.4082del (p.Asn1361ThrfsTer?) n.4975del n.2366del n.6228del c.3986del (p.Asn1329ThrfsTer?) c.*4132del (n.*4132del) c.*4055del (n.*4055del) c.*4360del (n.*4360del) c.*4091del (n.*4091del) c.3692del (p.Asn1231ThrfsTer?) c.2722+592del c.4043del (p.Asn1348ThrfsTer?) c.3022del n.3327del n.4150del c.4160del (p.Asn1387ThrfsTer?) c.4139del (p.Asn1380ThrfsTer?) c.4121del (p.Asn1374ThrfsTer?) c.4103del (p.Asn1368ThrfsTer?) c.4064del (p.Asn1355ThrfsTer?) c.4025del (p.Asn1342ThrfsTer?) c.3749del (p.Asn1250ThrfsTer?) c.3710del (p.Asn1237ThrfsTer?) c.4100del (p.Asn1367ThrfsTer?) c.4007del (p.Asn1336ThrfsTer?) c.3482del (p.Asn1161ThrfsTer?) c.3797del (p.Asn1266ThrfsTer?) n.8369del | COSMIC COSMIC |
3 | g.9475747A>C | CA351693442 | SETD5 | n.2940A>C c.4081A>C (p.Asn1361His) n.4974A>C n.2365A>C n.6227A>C c.3985A>C (p.Asn1329His) c.*4131A>C (n.*4131A>C) c.*4054A>C (n.*4054A>C) c.*4359A>C (n.*4359A>C) c.*4090A>C (n.*4090A>C) c.3691A>C (p.Asn1231His) c.2722+591A>C c.4042A>C (p.Asn1348His) c.3021A>C n.3326A>C n.4149A>C c.4159A>C (p.Asn1387His) c.4138A>C (p.Asn1380His) c.4120A>C (p.Asn1374His) c.4102A>C (p.Asn1368His) c.4063A>C (p.Asn1355His) c.4024A>C (p.Asn1342His) c.3748A>C (p.Asn1250His) c.3709A>C (p.Asn1237His) c.4099A>C (p.Asn1367His) c.4006A>C (p.Asn1336His) c.3481A>C (p.Asn1161His) c.3796A>C (p.Asn1266His) n.8368A>C | |
3 | g.9475747A>G | CA351693446 | SETD5 | n.2940A>G c.4081A>G (p.Asn1361Asp) n.4974A>G n.2365A>G n.6227A>G c.3985A>G (p.Asn1329Asp) c.*4131A>G (n.*4131A>G) c.*4054A>G (n.*4054A>G) c.*4359A>G (n.*4359A>G) c.*4090A>G (n.*4090A>G) c.3691A>G (p.Asn1231Asp) c.2722+591A>G c.4042A>G (p.Asn1348Asp) c.3021A>G n.3326A>G n.4149A>G c.4159A>G (p.Asn1387Asp) c.4138A>G (p.Asn1380Asp) c.4120A>G (p.Asn1374Asp) c.4102A>G (p.Asn1368Asp) c.4063A>G (p.Asn1355Asp) c.4024A>G (p.Asn1342Asp) c.3748A>G (p.Asn1250Asp) c.3709A>G (p.Asn1237Asp) c.4099A>G (p.Asn1367Asp) c.4006A>G (p.Asn1336Asp) c.3481A>G (p.Asn1161Asp) c.3796A>G (p.Asn1266Asp) n.8368A>G | |
3 | g.9475747A>T | CA351693450 | SETD5 | n.2940A>T c.4081A>T (p.Asn1361Tyr) n.4974A>T n.2365A>T n.6227A>T c.3985A>T (p.Asn1329Tyr) c.*4131A>T (n.*4131A>T) c.*4054A>T (n.*4054A>T) c.*4359A>T (n.*4359A>T) c.*4090A>T (n.*4090A>T) c.3691A>T (p.Asn1231Tyr) c.2722+591A>T c.4042A>T (p.Asn1348Tyr) c.3021A>T n.3326A>T n.4149A>T c.4159A>T (p.Asn1387Tyr) c.4138A>T (p.Asn1380Tyr) c.4120A>T (p.Asn1374Tyr) c.4102A>T (p.Asn1368Tyr) c.4063A>T (p.Asn1355Tyr) c.4024A>T (p.Asn1342Tyr) c.3748A>T (p.Asn1250Tyr) c.3709A>T (p.Asn1237Tyr) c.4099A>T (p.Asn1367Tyr) c.4006A>T (p.Asn1336Tyr) c.3481A>T (p.Asn1161Tyr) c.3796A>T (p.Asn1266Tyr) n.8368A>T | |
3 | g.9475748A= | CA1344742781 | SETD5 | n.2941A= c.4082A= (p.Asn1361=) n.4975A= n.2366A= n.6228A= c.3986A= (p.Asn1329=) c.*4132A= (n.*4132A=) c.*4055A= (n.*4055A=) c.*4360A= (n.*4360A=) c.*4091A= (n.*4091A=) c.3692A= (p.Asn1231=) c.2722+592A= c.4043A= (p.Asn1348=) c.3022A= n.3327A= n.4150A= c.4160A= (p.Asn1387=) c.4139A= (p.Asn1380=) c.4121A= (p.Asn1374=) c.4103A= (p.Asn1368=) c.4064A= (p.Asn1355=) c.4025A= (p.Asn1342=) c.3749A= (p.Asn1250=) c.3710A= (p.Asn1237=) c.4100A= (p.Asn1367=) c.4007A= (p.Asn1336=) c.3482A= (p.Asn1161=) c.3797A= (p.Asn1266=) n.8369A= | |
3 | g.9475748A>C | CA351693454 | SETD5 | n.2941A>C c.4082A>C (p.Asn1361Thr) n.4975A>C n.2366A>C n.6228A>C c.3986A>C (p.Asn1329Thr) c.*4132A>C (n.*4132A>C) c.*4055A>C (n.*4055A>C) c.*4360A>C (n.*4360A>C) c.*4091A>C (n.*4091A>C) c.3692A>C (p.Asn1231Thr) c.2722+592A>C c.4043A>C (p.Asn1348Thr) c.3022A>C n.3327A>C n.4150A>C c.4160A>C (p.Asn1387Thr) c.4139A>C (p.Asn1380Thr) c.4121A>C (p.Asn1374Thr) c.4103A>C (p.Asn1368Thr) c.4064A>C (p.Asn1355Thr) c.4025A>C (p.Asn1342Thr) c.3749A>C (p.Asn1250Thr) c.3710A>C (p.Asn1237Thr) c.4100A>C (p.Asn1367Thr) c.4007A>C (p.Asn1336Thr) c.3482A>C (p.Asn1161Thr) c.3797A>C (p.Asn1266Thr) n.8369A>C | |
3 | g.9475748A>G | CA69951990 | SETD5 | n.2941A>G c.4082A>G (p.Asn1361Ser) n.4975A>G n.2366A>G n.6228A>G c.3986A>G (p.Asn1329Ser) c.*4132A>G (n.*4132A>G) c.*4055A>G (n.*4055A>G) c.*4360A>G (n.*4360A>G) c.*4091A>G (n.*4091A>G) c.3692A>G (p.Asn1231Ser) c.2722+592A>G c.4043A>G (p.Asn1348Ser) c.3022A>G n.3327A>G n.4150A>G c.4160A>G (p.Asn1387Ser) c.4139A>G (p.Asn1380Ser) c.4121A>G (p.Asn1374Ser) c.4103A>G (p.Asn1368Ser) c.4064A>G (p.Asn1355Ser) c.4025A>G (p.Asn1342Ser) c.3749A>G (p.Asn1250Ser) c.3710A>G (p.Asn1237Ser) c.4100A>G (p.Asn1367Ser) c.4007A>G (p.Asn1336Ser) c.3482A>G (p.Asn1161Ser) c.3797A>G (p.Asn1266Ser) n.8369A>G | ClinVar dbSNP gnomAD v4 |
3 | g.9475748A>T | CA351693461 | SETD5 | n.2941A>T c.4082A>T (p.Asn1361Ile) n.4975A>T n.2366A>T n.6228A>T c.3986A>T (p.Asn1329Ile) c.*4132A>T (n.*4132A>T) c.*4055A>T (n.*4055A>T) c.*4360A>T (n.*4360A>T) c.*4091A>T (n.*4091A>T) c.3692A>T (p.Asn1231Ile) c.2722+592A>T c.4043A>T (p.Asn1348Ile) c.3022A>T n.3327A>T n.4150A>T c.4160A>T (p.Asn1387Ile) c.4139A>T (p.Asn1380Ile) c.4121A>T (p.Asn1374Ile) c.4103A>T (p.Asn1368Ile) c.4064A>T (p.Asn1355Ile) c.4025A>T (p.Asn1342Ile) c.3749A>T (p.Asn1250Ile) c.3710A>T (p.Asn1237Ile) c.4100A>T (p.Asn1367Ile) c.4007A>T (p.Asn1336Ile) c.3482A>T (p.Asn1161Ile) c.3797A>T (p.Asn1266Ile) n.8369A>T | |
3 | g.9475749C>A | CA351693462 | SETD5 | n.2942C>A c.4083C>A (p.Asn1361Lys) n.4976C>A n.2367C>A n.6229C>A c.3987C>A (p.Asn1329Lys) c.*4133C>A (n.*4133C>A) c.*4056C>A (n.*4056C>A) c.*4361C>A (n.*4361C>A) c.*4092C>A (n.*4092C>A) c.3693C>A (p.Asn1231Lys) c.2722+593C>A c.4044C>A (p.Asn1348Lys) c.3023C>A n.3328C>A n.4151C>A c.4161C>A (p.Asn1387Lys) c.4140C>A (p.Asn1380Lys) c.4122C>A (p.Asn1374Lys) c.4104C>A (p.Asn1368Lys) c.4065C>A (p.Asn1355Lys) c.4026C>A (p.Asn1342Lys) c.3750C>A (p.Asn1250Lys) c.3711C>A (p.Asn1237Lys) c.4101C>A (p.Asn1367Lys) c.4008C>A (p.Asn1336Lys) c.3483C>A (p.Asn1161Lys) c.3798C>A (p.Asn1266Lys) n.8370C>A | |
3 | g.9475749C= | CA1344742784 | SETD5 | n.2942C= c.4083C= (p.Asn1361=) n.4976C= n.2367C= n.6229C= c.3987C= (p.Asn1329=) c.*4133C= (n.*4133C=) c.*4056C= (n.*4056C=) c.*4361C= (n.*4361C=) c.*4092C= (n.*4092C=) c.3693C= (p.Asn1231=) c.2722+593C= c.4044C= (p.Asn1348=) c.3023C= n.3328C= n.4151C= c.4161C= (p.Asn1387=) c.4140C= (p.Asn1380=) c.4122C= (p.Asn1374=) c.4104C= (p.Asn1368=) c.4065C= (p.Asn1355=) c.4026C= (p.Asn1342=) c.3750C= (p.Asn1250=) c.3711C= (p.Asn1237=) c.4101C= (p.Asn1367=) c.4008C= (p.Asn1336=) c.3483C= (p.Asn1161=) c.3798C= (p.Asn1266=) n.8370C= | |
3 | g.9475749C>G | CA351693464 | SETD5 | n.2942C>G c.4083C>G (p.Asn1361Lys) n.4976C>G n.2367C>G n.6229C>G c.3987C>G (p.Asn1329Lys) c.*4133C>G (n.*4133C>G) c.*4056C>G (n.*4056C>G) c.*4361C>G (n.*4361C>G) c.*4092C>G (n.*4092C>G) c.3693C>G (p.Asn1231Lys) c.2722+593C>G c.4044C>G (p.Asn1348Lys) c.3023C>G n.3328C>G n.4151C>G c.4161C>G (p.Asn1387Lys) c.4140C>G (p.Asn1380Lys) c.4122C>G (p.Asn1374Lys) c.4104C>G (p.Asn1368Lys) c.4065C>G (p.Asn1355Lys) c.4026C>G (p.Asn1342Lys) c.3750C>G (p.Asn1250Lys) c.3711C>G (p.Asn1237Lys) c.4101C>G (p.Asn1367Lys) c.4008C>G (p.Asn1336Lys) c.3483C>G (p.Asn1161Lys) c.3798C>G (p.Asn1266Lys) n.8370C>G | dbSNP gnomAD v4 |
3 | g.9475749C>T | CA432528441 | SETD5 | n.2942C>T c.4083C>T (p.Asn1361=) n.4976C>T n.2367C>T n.6229C>T c.3987C>T (p.Asn1329=) c.*4133C>T (n.*4133C>T) c.*4056C>T (n.*4056C>T) c.*4361C>T (n.*4361C>T) c.*4092C>T (n.*4092C>T) c.3693C>T (p.Asn1231=) c.2722+593C>T c.4044C>T (p.Asn1348=) c.3023C>T n.3328C>T n.4151C>T c.4161C>T (p.Asn1387=) c.4140C>T (p.Asn1380=) c.4122C>T (p.Asn1374=) c.4104C>T (p.Asn1368=) c.4065C>T (p.Asn1355=) c.4026C>T (p.Asn1342=) c.3750C>T (p.Asn1250=) c.3711C>T (p.Asn1237=) c.4101C>T (p.Asn1367=) c.4008C>T (p.Asn1336=) c.3483C>T (p.Asn1161=) c.3798C>T (p.Asn1266=) n.8370C>T | dbSNP gnomAD v4 |
3 | g.9475750A= | CA1344742787 | SETD5 | n.2943A= c.4084A= (p.Ser1362=) n.4977A= n.2368A= n.6230A= c.3988A= (p.Ser1330=) c.*4134A= (n.*4134A=) c.*4057A= (n.*4057A=) c.*4362A= (n.*4362A=) c.*4093A= (n.*4093A=) c.3694A= (p.Ser1232=) c.2722+594A= c.4045A= (p.Ser1349=) c.3024A= n.3329A= n.4152A= c.4162A= (p.Ser1388=) c.4141A= (p.Ser1381=) c.4123A= (p.Ser1375=) c.4105A= (p.Ser1369=) c.4066A= (p.Ser1356=) c.4027A= (p.Ser1343=) c.3751A= (p.Ser1251=) c.3712A= (p.Ser1238=) c.4102A= (p.Ser1368=) c.4009A= (p.Ser1337=) c.3484A= (p.Ser1162=) c.3799A= (p.Ser1267=) n.8371A= | |
3 | g.9475750A>C | CA351693476 | SETD5 | n.2943A>C c.4084A>C (p.Ser1362Arg) n.4977A>C n.2368A>C n.6230A>C c.3988A>C (p.Ser1330Arg) c.*4134A>C (n.*4134A>C) c.*4057A>C (n.*4057A>C) c.*4362A>C (n.*4362A>C) c.*4093A>C (n.*4093A>C) c.3694A>C (p.Ser1232Arg) c.2722+594A>C c.4045A>C (p.Ser1349Arg) c.3024A>C n.3329A>C n.4152A>C c.4162A>C (p.Ser1388Arg) c.4141A>C (p.Ser1381Arg) c.4123A>C (p.Ser1375Arg) c.4105A>C (p.Ser1369Arg) c.4066A>C (p.Ser1356Arg) c.4027A>C (p.Ser1343Arg) c.3751A>C (p.Ser1251Arg) c.3712A>C (p.Ser1238Arg) c.4102A>C (p.Ser1368Arg) c.4009A>C (p.Ser1337Arg) c.3484A>C (p.Ser1162Arg) c.3799A>C (p.Ser1267Arg) n.8371A>C | |
3 | g.9475750A>G | CA2239844 | SETD5 | n.2943A>G c.4084A>G (p.Ser1362Gly) n.4977A>G n.2368A>G n.6230A>G c.3988A>G (p.Ser1330Gly) c.*4134A>G (n.*4134A>G) c.*4057A>G (n.*4057A>G) c.*4362A>G (n.*4362A>G) c.*4093A>G (n.*4093A>G) c.3694A>G (p.Ser1232Gly) c.2722+594A>G c.4045A>G (p.Ser1349Gly) c.3024A>G n.3329A>G n.4152A>G c.4162A>G (p.Ser1388Gly) c.4141A>G (p.Ser1381Gly) c.4123A>G (p.Ser1375Gly) c.4105A>G (p.Ser1369Gly) c.4066A>G (p.Ser1356Gly) c.4027A>G (p.Ser1343Gly) c.3751A>G (p.Ser1251Gly) c.3712A>G (p.Ser1238Gly) c.4102A>G (p.Ser1368Gly) c.4009A>G (p.Ser1337Gly) c.3484A>G (p.Ser1162Gly) c.3799A>G (p.Ser1267Gly) n.8371A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.9475750A>T | CA351693472 | SETD5 | n.2943A>T c.4084A>T (p.Ser1362Cys) n.4977A>T n.2368A>T n.6230A>T c.3988A>T (p.Ser1330Cys) c.*4134A>T (n.*4134A>T) c.*4057A>T (n.*4057A>T) c.*4362A>T (n.*4362A>T) c.*4093A>T (n.*4093A>T) c.3694A>T (p.Ser1232Cys) c.2722+594A>T c.4045A>T (p.Ser1349Cys) c.3024A>T n.3329A>T n.4152A>T c.4162A>T (p.Ser1388Cys) c.4141A>T (p.Ser1381Cys) c.4123A>T (p.Ser1375Cys) c.4105A>T (p.Ser1369Cys) c.4066A>T (p.Ser1356Cys) c.4027A>T (p.Ser1343Cys) c.3751A>T (p.Ser1251Cys) c.3712A>T (p.Ser1238Cys) c.4102A>T (p.Ser1368Cys) c.4009A>T (p.Ser1337Cys) c.3484A>T (p.Ser1162Cys) c.3799A>T (p.Ser1267Cys) n.8371A>T | |
3 | g.9475751G>A | CA351693485 | SETD5 | n.2944G>A c.4085G>A (p.Ser1362Asn) n.4978G>A n.2369G>A n.6231G>A c.3989G>A (p.Ser1330Asn) c.*4135G>A (n.*4135G>A) c.*4058G>A (n.*4058G>A) c.*4363G>A (n.*4363G>A) c.*4094G>A (n.*4094G>A) c.3695G>A (p.Ser1232Asn) c.2722+595G>A c.4046G>A (p.Ser1349Asn) c.3025G>A n.3330G>A n.4153G>A c.4163G>A (p.Ser1388Asn) c.4142G>A (p.Ser1381Asn) c.4124G>A (p.Ser1375Asn) c.4106G>A (p.Ser1369Asn) c.4067G>A (p.Ser1356Asn) c.4028G>A (p.Ser1343Asn) c.3752G>A (p.Ser1251Asn) c.3713G>A (p.Ser1238Asn) c.4103G>A (p.Ser1368Asn) c.4010G>A (p.Ser1337Asn) c.3485G>A (p.Ser1162Asn) c.3800G>A (p.Ser1267Asn) n.8372G>A | gnomAD v4 |
3 | g.9475751G>C | CA351693488 | SETD5 | n.2944G>C c.4085G>C (p.Ser1362Thr) n.4978G>C n.2369G>C n.6231G>C c.3989G>C (p.Ser1330Thr) c.*4135G>C (n.*4135G>C) c.*4058G>C (n.*4058G>C) c.*4363G>C (n.*4363G>C) c.*4094G>C (n.*4094G>C) c.3695G>C (p.Ser1232Thr) c.2722+595G>C c.4046G>C (p.Ser1349Thr) c.3025G>C n.3330G>C n.4153G>C c.4163G>C (p.Ser1388Thr) c.4142G>C (p.Ser1381Thr) c.4124G>C (p.Ser1375Thr) c.4106G>C (p.Ser1369Thr) c.4067G>C (p.Ser1356Thr) c.4028G>C (p.Ser1343Thr) c.3752G>C (p.Ser1251Thr) c.3713G>C (p.Ser1238Thr) c.4103G>C (p.Ser1368Thr) c.4010G>C (p.Ser1337Thr) c.3485G>C (p.Ser1162Thr) c.3800G>C (p.Ser1267Thr) n.8372G>C | |
3 | g.9475751G>T | CA351693492 | SETD5 | n.2944G>T c.4085G>T (p.Ser1362Ile) n.4978G>T n.2369G>T n.6231G>T c.3989G>T (p.Ser1330Ile) c.*4135G>T (n.*4135G>T) c.*4058G>T (n.*4058G>T) c.*4363G>T (n.*4363G>T) c.*4094G>T (n.*4094G>T) c.3695G>T (p.Ser1232Ile) c.2722+595G>T c.4046G>T (p.Ser1349Ile) c.3025G>T n.3330G>T n.4153G>T c.4163G>T (p.Ser1388Ile) c.4142G>T (p.Ser1381Ile) c.4124G>T (p.Ser1375Ile) c.4106G>T (p.Ser1369Ile) c.4067G>T (p.Ser1356Ile) c.4028G>T (p.Ser1343Ile) c.3752G>T (p.Ser1251Ile) c.3713G>T (p.Ser1238Ile) c.4103G>T (p.Ser1368Ile) c.4010G>T (p.Ser1337Ile) c.3485G>T (p.Ser1162Ile) c.3800G>T (p.Ser1267Ile) n.8372G>T | |
3 | g.9475752C>A | CA351693496 | SETD5 | n.2945C>A c.4086C>A (p.Ser1362Arg) n.4979C>A n.2370C>A n.6232C>A c.3990C>A (p.Ser1330Arg) c.*4136C>A (n.*4136C>A) c.*4059C>A (n.*4059C>A) c.*4364C>A (n.*4364C>A) c.*4095C>A (n.*4095C>A) c.3696C>A (p.Ser1232Arg) c.2722+596C>A c.4047C>A (p.Ser1349Arg) c.3026C>A n.3331C>A n.4154C>A c.4164C>A (p.Ser1388Arg) c.4143C>A (p.Ser1381Arg) c.4125C>A (p.Ser1375Arg) c.4107C>A (p.Ser1369Arg) c.4068C>A (p.Ser1356Arg) c.4029C>A (p.Ser1343Arg) c.3753C>A (p.Ser1251Arg) c.3714C>A (p.Ser1238Arg) c.4104C>A (p.Ser1368Arg) c.4011C>A (p.Ser1337Arg) c.3486C>A (p.Ser1162Arg) c.3801C>A (p.Ser1267Arg) n.8373C>A | |
3 | g.9475752C>G | CA351693498 | SETD5 | n.2945C>G c.4086C>G (p.Ser1362Arg) n.4979C>G n.2370C>G n.6232C>G c.3990C>G (p.Ser1330Arg) c.*4136C>G (n.*4136C>G) c.*4059C>G (n.*4059C>G) c.*4364C>G (n.*4364C>G) c.*4095C>G (n.*4095C>G) c.3696C>G (p.Ser1232Arg) c.2722+596C>G c.4047C>G (p.Ser1349Arg) c.3026C>G n.3331C>G n.4154C>G c.4164C>G (p.Ser1388Arg) c.4143C>G (p.Ser1381Arg) c.4125C>G (p.Ser1375Arg) c.4107C>G (p.Ser1369Arg) c.4068C>G (p.Ser1356Arg) c.4029C>G (p.Ser1343Arg) c.3753C>G (p.Ser1251Arg) c.3714C>G (p.Ser1238Arg) c.4104C>G (p.Ser1368Arg) c.4011C>G (p.Ser1337Arg) c.3486C>G (p.Ser1162Arg) c.3801C>G (p.Ser1267Arg) n.8373C>G | |
3 | g.9475752C>T | CA432528452 | SETD5 | n.2945C>T c.4086C>T (p.Ser1362=) n.4979C>T n.2370C>T n.6232C>T c.3990C>T (p.Ser1330=) c.*4136C>T (n.*4136C>T) c.*4059C>T (n.*4059C>T) c.*4364C>T (n.*4364C>T) c.*4095C>T (n.*4095C>T) c.3696C>T (p.Ser1232=) c.2722+596C>T c.4047C>T (p.Ser1349=) c.3026C>T n.3331C>T n.4154C>T c.4164C>T (p.Ser1388=) c.4143C>T (p.Ser1381=) c.4125C>T (p.Ser1375=) c.4107C>T (p.Ser1369=) c.4068C>T (p.Ser1356=) c.4029C>T (p.Ser1343=) c.3753C>T (p.Ser1251=) c.3714C>T (p.Ser1238=) c.4104C>T (p.Ser1368=) c.4011C>T (p.Ser1337=) c.3486C>T (p.Ser1162=) c.3801C>T (p.Ser1267=) n.8373C>T | |
3 | g.9475753A>C | CA351693511 | SETD5 | n.2946A>C c.4087A>C (p.Thr1363Pro) n.4980A>C n.2371A>C n.6233A>C c.3991A>C (p.Thr1331Pro) c.*4137A>C (n.*4137A>C) c.*4060A>C (n.*4060A>C) c.*4365A>C (n.*4365A>C) c.*4096A>C (n.*4096A>C) c.3697A>C (p.Thr1233Pro) c.2722+597A>C c.4048A>C (p.Thr1350Pro) c.3027A>C n.3332A>C n.4155A>C c.4165A>C (p.Thr1389Pro) c.4144A>C (p.Thr1382Pro) c.4126A>C (p.Thr1376Pro) c.4108A>C (p.Thr1370Pro) c.4069A>C (p.Thr1357Pro) c.4030A>C (p.Thr1344Pro) c.3754A>C (p.Thr1252Pro) c.3715A>C (p.Thr1239Pro) c.4105A>C (p.Thr1369Pro) c.4012A>C (p.Thr1338Pro) c.3487A>C (p.Thr1163Pro) c.3802A>C (p.Thr1268Pro) n.8374A>C | |
3 | g.9475753A>G | CA351693508 | SETD5 | n.2946A>G c.4087A>G (p.Thr1363Ala) n.4980A>G n.2371A>G n.6233A>G c.3991A>G (p.Thr1331Ala) c.*4137A>G (n.*4137A>G) c.*4060A>G (n.*4060A>G) c.*4365A>G (n.*4365A>G) c.*4096A>G (n.*4096A>G) c.3697A>G (p.Thr1233Ala) c.2722+597A>G c.4048A>G (p.Thr1350Ala) c.3027A>G n.3332A>G n.4155A>G c.4165A>G (p.Thr1389Ala) c.4144A>G (p.Thr1382Ala) c.4126A>G (p.Thr1376Ala) c.4108A>G (p.Thr1370Ala) c.4069A>G (p.Thr1357Ala) c.4030A>G (p.Thr1344Ala) c.3754A>G (p.Thr1252Ala) c.3715A>G (p.Thr1239Ala) c.4105A>G (p.Thr1369Ala) c.4012A>G (p.Thr1338Ala) c.3487A>G (p.Thr1163Ala) c.3802A>G (p.Thr1268Ala) n.8374A>G | |
3 | g.9475753A>T | CA351693504 | SETD5 | n.2946A>T c.4087A>T (p.Thr1363Ser) n.4980A>T n.2371A>T n.6233A>T c.3991A>T (p.Thr1331Ser) c.*4137A>T (n.*4137A>T) c.*4060A>T (n.*4060A>T) c.*4365A>T (n.*4365A>T) c.*4096A>T (n.*4096A>T) c.3697A>T (p.Thr1233Ser) c.2722+597A>T c.4048A>T (p.Thr1350Ser) c.3027A>T n.3332A>T n.4155A>T c.4165A>T (p.Thr1389Ser) c.4144A>T (p.Thr1382Ser) c.4126A>T (p.Thr1376Ser) c.4108A>T (p.Thr1370Ser) c.4069A>T (p.Thr1357Ser) c.4030A>T (p.Thr1344Ser) c.3754A>T (p.Thr1252Ser) c.3715A>T (p.Thr1239Ser) c.4105A>T (p.Thr1369Ser) c.4012A>T (p.Thr1338Ser) c.3487A>T (p.Thr1163Ser) c.3802A>T (p.Thr1268Ser) n.8374A>T | |
3 | g.9475754C>A | CA351693517 | SETD5 | n.2947C>A c.4088C>A (p.Thr1363Asn) n.4981C>A n.2372C>A n.6234C>A c.3992C>A (p.Thr1331Asn) c.*4138C>A (n.*4138C>A) c.*4061C>A (n.*4061C>A) c.*4366C>A (n.*4366C>A) c.*4097C>A (n.*4097C>A) c.3698C>A (p.Thr1233Asn) c.2722+598C>A c.4049C>A (p.Thr1350Asn) c.3028C>A n.3333C>A n.4156C>A c.4166C>A (p.Thr1389Asn) c.4145C>A (p.Thr1382Asn) c.4127C>A (p.Thr1376Asn) c.4109C>A (p.Thr1370Asn) c.4070C>A (p.Thr1357Asn) c.4031C>A (p.Thr1344Asn) c.3755C>A (p.Thr1252Asn) c.3716C>A (p.Thr1239Asn) c.4106C>A (p.Thr1369Asn) c.4013C>A (p.Thr1338Asn) c.3488C>A (p.Thr1163Asn) c.3803C>A (p.Thr1268Asn) n.8375C>A | |
3 | g.9475754C= | CA1344742788 | SETD5 | n.2947C= c.4088C= (p.Thr1363=) n.4981C= n.2372C= n.6234C= c.3992C= (p.Thr1331=) c.*4138C= (n.*4138C=) c.*4061C= (n.*4061C=) c.*4366C= (n.*4366C=) c.*4097C= (n.*4097C=) c.3698C= (p.Thr1233=) c.2722+598C= c.4049C= (p.Thr1350=) c.3028C= n.3333C= n.4156C= c.4166C= (p.Thr1389=) c.4145C= (p.Thr1382=) c.4127C= (p.Thr1376=) c.4109C= (p.Thr1370=) c.4070C= (p.Thr1357=) c.4031C= (p.Thr1344=) c.3755C= (p.Thr1252=) c.3716C= (p.Thr1239=) c.4106C= (p.Thr1369=) c.4013C= (p.Thr1338=) c.3488C= (p.Thr1163=) c.3803C= (p.Thr1268=) n.8375C= | |
3 | g.9475754C>G | CA351693520 | SETD5 | n.2947C>G c.4088C>G (p.Thr1363Ser) n.4981C>G n.2372C>G n.6234C>G c.3992C>G (p.Thr1331Ser) c.*4138C>G (n.*4138C>G) c.*4061C>G (n.*4061C>G) c.*4366C>G (n.*4366C>G) c.*4097C>G (n.*4097C>G) c.3698C>G (p.Thr1233Ser) c.2722+598C>G c.4049C>G (p.Thr1350Ser) c.3028C>G n.3333C>G n.4156C>G c.4166C>G (p.Thr1389Ser) c.4145C>G (p.Thr1382Ser) c.4127C>G (p.Thr1376Ser) c.4109C>G (p.Thr1370Ser) c.4070C>G (p.Thr1357Ser) c.4031C>G (p.Thr1344Ser) c.3755C>G (p.Thr1252Ser) c.3716C>G (p.Thr1239Ser) c.4106C>G (p.Thr1369Ser) c.4013C>G (p.Thr1338Ser) c.3488C>G (p.Thr1163Ser) c.3803C>G (p.Thr1268Ser) n.8375C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475754C>T | CA2239845 | SETD5 | n.2947C>T c.4088C>T (p.Thr1363Ile) n.4981C>T n.2372C>T n.6234C>T c.3992C>T (p.Thr1331Ile) c.*4138C>T (n.*4138C>T) c.*4061C>T (n.*4061C>T) c.*4366C>T (n.*4366C>T) c.*4097C>T (n.*4097C>T) c.3698C>T (p.Thr1233Ile) c.2722+598C>T c.4049C>T (p.Thr1350Ile) c.3028C>T n.3333C>T n.4156C>T c.4166C>T (p.Thr1389Ile) c.4145C>T (p.Thr1382Ile) c.4127C>T (p.Thr1376Ile) c.4109C>T (p.Thr1370Ile) c.4070C>T (p.Thr1357Ile) c.4031C>T (p.Thr1344Ile) c.3755C>T (p.Thr1252Ile) c.3716C>T (p.Thr1239Ile) c.4106C>T (p.Thr1369Ile) c.4013C>T (p.Thr1338Ile) c.3488C>T (p.Thr1163Ile) c.3803C>T (p.Thr1268Ile) n.8375C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.9475755T>A | CA432528456 | SETD5 | n.2948T>A c.4089T>A (p.Thr1363=) n.4982T>A n.2373T>A n.6235T>A c.3993T>A (p.Thr1331=) c.*4139T>A (n.*4139T>A) c.*4062T>A (n.*4062T>A) c.*4367T>A (n.*4367T>A) c.*4098T>A (n.*4098T>A) c.3699T>A (p.Thr1233=) c.2722+599T>A c.4050T>A (p.Thr1350=) c.3029T>A n.3334T>A n.4157T>A c.4167T>A (p.Thr1389=) c.4146T>A (p.Thr1382=) c.4128T>A (p.Thr1376=) c.4110T>A (p.Thr1370=) c.4071T>A (p.Thr1357=) c.4032T>A (p.Thr1344=) c.3756T>A (p.Thr1252=) c.3717T>A (p.Thr1239=) c.4107T>A (p.Thr1369=) c.4014T>A (p.Thr1338=) c.3489T>A (p.Thr1163=) c.3804T>A (p.Thr1268=) n.8376T>A | |
3 | g.9475755T>C | CA432528457 | SETD5 | n.2948T>C c.4089T>C (p.Thr1363=) n.4982T>C n.2373T>C n.6235T>C c.3993T>C (p.Thr1331=) c.*4139T>C (n.*4139T>C) c.*4062T>C (n.*4062T>C) c.*4367T>C (n.*4367T>C) c.*4098T>C (n.*4098T>C) c.3699T>C (p.Thr1233=) c.2722+599T>C c.4050T>C (p.Thr1350=) c.3029T>C n.3334T>C n.4157T>C c.4167T>C (p.Thr1389=) c.4146T>C (p.Thr1382=) c.4128T>C (p.Thr1376=) c.4110T>C (p.Thr1370=) c.4071T>C (p.Thr1357=) c.4032T>C (p.Thr1344=) c.3756T>C (p.Thr1252=) c.3717T>C (p.Thr1239=) c.4107T>C (p.Thr1369=) c.4014T>C (p.Thr1338=) c.3489T>C (p.Thr1163=) c.3804T>C (p.Thr1268=) n.8376T>C | |
3 | g.9475755T>G | CA432528458 | SETD5 | n.2948T>G c.4089T>G (p.Thr1363=) n.4982T>G n.2373T>G n.6235T>G c.3993T>G (p.Thr1331=) c.*4139T>G (n.*4139T>G) c.*4062T>G (n.*4062T>G) c.*4367T>G (n.*4367T>G) c.*4098T>G (n.*4098T>G) c.3699T>G (p.Thr1233=) c.2722+599T>G c.4050T>G (p.Thr1350=) c.3029T>G n.3334T>G n.4157T>G c.4167T>G (p.Thr1389=) c.4146T>G (p.Thr1382=) c.4128T>G (p.Thr1376=) c.4110T>G (p.Thr1370=) c.4071T>G (p.Thr1357=) c.4032T>G (p.Thr1344=) c.3756T>G (p.Thr1252=) c.3717T>G (p.Thr1239=) c.4107T>G (p.Thr1369=) c.4014T>G (p.Thr1338=) c.3489T>G (p.Thr1163=) c.3804T>G (p.Thr1268=) n.8376T>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.9475755T= | CA1344742789 | SETD5 | n.2948T= c.4089T= (p.Thr1363=) n.4982T= n.2373T= n.6235T= c.3993T= (p.Thr1331=) c.*4139T= (n.*4139T=) c.*4062T= (n.*4062T=) c.*4367T= (n.*4367T=) c.*4098T= (n.*4098T=) c.3699T= (p.Thr1233=) c.2722+599T= c.4050T= (p.Thr1350=) c.3029T= n.3334T= n.4157T= c.4167T= (p.Thr1389=) c.4146T= (p.Thr1382=) c.4128T= (p.Thr1376=) c.4110T= (p.Thr1370=) c.4071T= (p.Thr1357=) c.4032T= (p.Thr1344=) c.3756T= (p.Thr1252=) c.3717T= (p.Thr1239=) c.4107T= (p.Thr1369=) c.4014T= (p.Thr1338=) c.3489T= (p.Thr1163=) c.3804T= (p.Thr1268=) n.8376T= | |
3 | g.9475756G>A | CA351693530 | SETD5 | n.2949G>A c.4090G>A (p.Gly1364Ser) n.4983G>A n.2374G>A n.6236G>A c.3994G>A (p.Gly1332Ser) c.*4140G>A (n.*4140G>A) c.*4063G>A (n.*4063G>A) c.*4368G>A (n.*4368G>A) c.*4099G>A (n.*4099G>A) c.3700G>A (p.Gly1234Ser) c.2722+600G>A c.4051G>A (p.Gly1351Ser) c.3030G>A n.3335G>A n.4158G>A c.4168G>A (p.Gly1390Ser) c.4147G>A (p.Gly1383Ser) c.4129G>A (p.Gly1377Ser) c.4111G>A (p.Gly1371Ser) c.4072G>A (p.Gly1358Ser) c.4033G>A (p.Gly1345Ser) c.3757G>A (p.Gly1253Ser) c.3718G>A (p.Gly1240Ser) c.4108G>A (p.Gly1370Ser) c.4015G>A (p.Gly1339Ser) c.3490G>A (p.Gly1164Ser) c.3805G>A (p.Gly1269Ser) n.8377G>A | |
3 | g.9475756G>C | CA351693533 | SETD5 | n.2949G>C c.4090G>C (p.Gly1364Arg) n.4983G>C n.2374G>C n.6236G>C c.3994G>C (p.Gly1332Arg) c.*4140G>C (n.*4140G>C) c.*4063G>C (n.*4063G>C) c.*4368G>C (n.*4368G>C) c.*4099G>C (n.*4099G>C) c.3700G>C (p.Gly1234Arg) c.2722+600G>C c.4051G>C (p.Gly1351Arg) c.3030G>C n.3335G>C n.4158G>C c.4168G>C (p.Gly1390Arg) c.4147G>C (p.Gly1383Arg) c.4129G>C (p.Gly1377Arg) c.4111G>C (p.Gly1371Arg) c.4072G>C (p.Gly1358Arg) c.4033G>C (p.Gly1345Arg) c.3757G>C (p.Gly1253Arg) c.3718G>C (p.Gly1240Arg) c.4108G>C (p.Gly1370Arg) c.4015G>C (p.Gly1339Arg) c.3490G>C (p.Gly1164Arg) c.3805G>C (p.Gly1269Arg) n.8377G>C | |
3 | g.9475756G>T | CA351693538 | SETD5 | n.2949G>T c.4090G>T (p.Gly1364Cys) n.4983G>T n.2374G>T n.6236G>T c.3994G>T (p.Gly1332Cys) c.*4140G>T (n.*4140G>T) c.*4063G>T (n.*4063G>T) c.*4368G>T (n.*4368G>T) c.*4099G>T (n.*4099G>T) c.3700G>T (p.Gly1234Cys) c.2722+600G>T c.4051G>T (p.Gly1351Cys) c.3030G>T n.3335G>T n.4158G>T c.4168G>T (p.Gly1390Cys) c.4147G>T (p.Gly1383Cys) c.4129G>T (p.Gly1377Cys) c.4111G>T (p.Gly1371Cys) c.4072G>T (p.Gly1358Cys) c.4033G>T (p.Gly1345Cys) c.3757G>T (p.Gly1253Cys) c.3718G>T (p.Gly1240Cys) c.4108G>T (p.Gly1370Cys) c.4015G>T (p.Gly1339Cys) c.3490G>T (p.Gly1164Cys) c.3805G>T (p.Gly1269Cys) n.8377G>T | |
3 | g.9475757G>A | CA351693544 | SETD5 | n.2950G>A c.4091G>A (p.Gly1364Asp) n.4984G>A n.2375G>A n.6237G>A c.3995G>A (p.Gly1332Asp) c.*4141G>A (n.*4141G>A) c.*4064G>A (n.*4064G>A) c.*4369G>A (n.*4369G>A) c.*4100G>A (n.*4100G>A) c.3701G>A (p.Gly1234Asp) c.2722+601G>A c.4052G>A (p.Gly1351Asp) c.3031G>A n.3336G>A n.4159G>A c.4169G>A (p.Gly1390Asp) c.4148G>A (p.Gly1383Asp) c.4130G>A (p.Gly1377Asp) c.4112G>A (p.Gly1371Asp) c.4073G>A (p.Gly1358Asp) c.4034G>A (p.Gly1345Asp) c.3758G>A (p.Gly1253Asp) c.3719G>A (p.Gly1240Asp) c.4109G>A (p.Gly1370Asp) c.4016G>A (p.Gly1339Asp) c.3491G>A (p.Gly1164Asp) c.3806G>A (p.Gly1269Asp) n.8378G>A | |
3 | g.9475757G>C | CA351693549 | SETD5 | n.2950G>C c.4091G>C (p.Gly1364Ala) n.4984G>C n.2375G>C n.6237G>C c.3995G>C (p.Gly1332Ala) c.*4141G>C (n.*4141G>C) c.*4064G>C (n.*4064G>C) c.*4369G>C (n.*4369G>C) c.*4100G>C (n.*4100G>C) c.3701G>C (p.Gly1234Ala) c.2722+601G>C c.4052G>C (p.Gly1351Ala) c.3031G>C n.3336G>C n.4159G>C c.4169G>C (p.Gly1390Ala) c.4148G>C (p.Gly1383Ala) c.4130G>C (p.Gly1377Ala) c.4112G>C (p.Gly1371Ala) c.4073G>C (p.Gly1358Ala) c.4034G>C (p.Gly1345Ala) c.3758G>C (p.Gly1253Ala) c.3719G>C (p.Gly1240Ala) c.4109G>C (p.Gly1370Ala) c.4016G>C (p.Gly1339Ala) c.3491G>C (p.Gly1164Ala) c.3806G>C (p.Gly1269Ala) n.8378G>C | gnomAD v4 |
3 | g.9475757G>T | CA351693546 | SETD5 | n.2950G>T c.4091G>T (p.Gly1364Val) n.4984G>T n.2375G>T n.6237G>T c.3995G>T (p.Gly1332Val) c.*4141G>T (n.*4141G>T) c.*4064G>T (n.*4064G>T) c.*4369G>T (n.*4369G>T) c.*4100G>T (n.*4100G>T) c.3701G>T (p.Gly1234Val) c.2722+601G>T c.4052G>T (p.Gly1351Val) c.3031G>T n.3336G>T n.4159G>T c.4169G>T (p.Gly1390Val) c.4148G>T (p.Gly1383Val) c.4130G>T (p.Gly1377Val) c.4112G>T (p.Gly1371Val) c.4073G>T (p.Gly1358Val) c.4034G>T (p.Gly1345Val) c.3758G>T (p.Gly1253Val) c.3719G>T (p.Gly1240Val) c.4109G>T (p.Gly1370Val) c.4016G>T (p.Gly1339Val) c.3491G>T (p.Gly1164Val) c.3806G>T (p.Gly1269Val) n.8378G>T | |
3 | g.9475758C>A | CA432528463 | SETD5 | n.2951C>A c.4092C>A (p.Gly1364=) n.4985C>A n.2376C>A n.6238C>A c.3996C>A (p.Gly1332=) c.*4142C>A (n.*4142C>A) c.*4065C>A (n.*4065C>A) c.*4370C>A (n.*4370C>A) c.*4101C>A (n.*4101C>A) c.3702C>A (p.Gly1234=) c.2722+602C>A c.4053C>A (p.Gly1351=) c.3032C>A n.3337C>A n.4160C>A c.4170C>A (p.Gly1390=) c.4149C>A (p.Gly1383=) c.4131C>A (p.Gly1377=) c.4113C>A (p.Gly1371=) c.4074C>A (p.Gly1358=) c.4035C>A (p.Gly1345=) c.3759C>A (p.Gly1253=) c.3720C>A (p.Gly1240=) c.4110C>A (p.Gly1370=) c.4017C>A (p.Gly1339=) c.3492C>A (p.Gly1164=) c.3807C>A (p.Gly1269=) n.8379C>A | |
3 | g.9475758C>G | CA432528465 | SETD5 | n.2951C>G c.4092C>G (p.Gly1364=) n.4985C>G n.2376C>G n.6238C>G c.3996C>G (p.Gly1332=) c.*4142C>G (n.*4142C>G) c.*4065C>G (n.*4065C>G) c.*4370C>G (n.*4370C>G) c.*4101C>G (n.*4101C>G) c.3702C>G (p.Gly1234=) c.2722+602C>G c.4053C>G (p.Gly1351=) c.3032C>G n.3337C>G n.4160C>G c.4170C>G (p.Gly1390=) c.4149C>G (p.Gly1383=) c.4131C>G (p.Gly1377=) c.4113C>G (p.Gly1371=) c.4074C>G (p.Gly1358=) c.4035C>G (p.Gly1345=) c.3759C>G (p.Gly1253=) c.3720C>G (p.Gly1240=) c.4110C>G (p.Gly1370=) c.4017C>G (p.Gly1339=) c.3492C>G (p.Gly1164=) c.3807C>G (p.Gly1269=) n.8379C>G | |
3 | g.9475758C>T | CA432528467 | SETD5 | n.2951C>T c.4092C>T (p.Gly1364=) n.4985C>T n.2376C>T n.6238C>T c.3996C>T (p.Gly1332=) c.*4142C>T (n.*4142C>T) c.*4065C>T (n.*4065C>T) c.*4370C>T (n.*4370C>T) c.*4101C>T (n.*4101C>T) c.3702C>T (p.Gly1234=) c.2722+602C>T c.4053C>T (p.Gly1351=) c.3032C>T n.3337C>T n.4160C>T c.4170C>T (p.Gly1390=) c.4149C>T (p.Gly1383=) c.4131C>T (p.Gly1377=) c.4113C>T (p.Gly1371=) c.4074C>T (p.Gly1358=) c.4035C>T (p.Gly1345=) c.3759C>T (p.Gly1253=) c.3720C>T (p.Gly1240=) c.4110C>T (p.Gly1370=) c.4017C>T (p.Gly1339=) c.3492C>T (p.Gly1164=) c.3807C>T (p.Gly1269=) n.8379C>T | gnomAD v4 |
3 | g.9475759A= | CA1344742790 | SETD5 | n.2952A= c.4093A= (p.Ser1365=) n.4986A= n.2377A= n.6239A= c.3997A= (p.Ser1333=) c.*4143A= (n.*4143A=) c.*4066A= (n.*4066A=) c.*4371A= (n.*4371A=) c.*4102A= (n.*4102A=) c.3703A= (p.Ser1235=) c.2722+603A= c.4054A= (p.Ser1352=) c.3033A= n.3338A= n.4161A= c.4171A= (p.Ser1391=) c.4150A= (p.Ser1384=) c.4132A= (p.Ser1378=) c.4114A= (p.Ser1372=) c.4075A= (p.Ser1359=) c.4036A= (p.Ser1346=) c.3760A= (p.Ser1254=) c.3721A= (p.Ser1241=) c.4111A= (p.Ser1371=) c.4018A= (p.Ser1340=) c.3493A= (p.Ser1165=) c.3808A= (p.Ser1270=) n.8380A= | |
3 | g.9475759A>C | CA351693553 | SETD5 | n.2952A>C c.4093A>C (p.Ser1365Arg) n.4986A>C n.2377A>C n.6239A>C c.3997A>C (p.Ser1333Arg) c.*4143A>C (n.*4143A>C) c.*4066A>C (n.*4066A>C) c.*4371A>C (n.*4371A>C) c.*4102A>C (n.*4102A>C) c.3703A>C (p.Ser1235Arg) c.2722+603A>C c.4054A>C (p.Ser1352Arg) c.3033A>C n.3338A>C n.4161A>C c.4171A>C (p.Ser1391Arg) c.4150A>C (p.Ser1384Arg) c.4132A>C (p.Ser1378Arg) c.4114A>C (p.Ser1372Arg) c.4075A>C (p.Ser1359Arg) c.4036A>C (p.Ser1346Arg) c.3760A>C (p.Ser1254Arg) c.3721A>C (p.Ser1241Arg) c.4111A>C (p.Ser1371Arg) c.4018A>C (p.Ser1340Arg) c.3493A>C (p.Ser1165Arg) c.3808A>C (p.Ser1270Arg) n.8380A>C | gnomAD v4 |
3 | g.9475759A>G | CA351693556 | SETD5 | n.2952A>G c.4093A>G (p.Ser1365Gly) n.4986A>G n.2377A>G n.6239A>G c.3997A>G (p.Ser1333Gly) c.*4143A>G (n.*4143A>G) c.*4066A>G (n.*4066A>G) c.*4371A>G (n.*4371A>G) c.*4102A>G (n.*4102A>G) c.3703A>G (p.Ser1235Gly) c.2722+603A>G c.4054A>G (p.Ser1352Gly) c.3033A>G n.3338A>G n.4161A>G c.4171A>G (p.Ser1391Gly) c.4150A>G (p.Ser1384Gly) c.4132A>G (p.Ser1378Gly) c.4114A>G (p.Ser1372Gly) c.4075A>G (p.Ser1359Gly) c.4036A>G (p.Ser1346Gly) c.3760A>G (p.Ser1254Gly) c.3721A>G (p.Ser1241Gly) c.4111A>G (p.Ser1371Gly) c.4018A>G (p.Ser1340Gly) c.3493A>G (p.Ser1165Gly) c.3808A>G (p.Ser1270Gly) n.8380A>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.9475759A>T | CA351693559 | SETD5 | n.2952A>T c.4093A>T (p.Ser1365Cys) n.4986A>T n.2377A>T n.6239A>T c.3997A>T (p.Ser1333Cys) c.*4143A>T (n.*4143A>T) c.*4066A>T (n.*4066A>T) c.*4371A>T (n.*4371A>T) c.*4102A>T (n.*4102A>T) c.3703A>T (p.Ser1235Cys) c.2722+603A>T c.4054A>T (p.Ser1352Cys) c.3033A>T n.3338A>T n.4161A>T c.4171A>T (p.Ser1391Cys) c.4150A>T (p.Ser1384Cys) c.4132A>T (p.Ser1378Cys) c.4114A>T (p.Ser1372Cys) c.4075A>T (p.Ser1359Cys) c.4036A>T (p.Ser1346Cys) c.3760A>T (p.Ser1254Cys) c.3721A>T (p.Ser1241Cys) c.4111A>T (p.Ser1371Cys) c.4018A>T (p.Ser1340Cys) c.3493A>T (p.Ser1165Cys) c.3808A>T (p.Ser1270Cys) n.8380A>T | |
3 | g.9475760G>A | CA2239846 | SETD5 | n.2953G>A c.4094G>A (p.Ser1365Asn) n.4987G>A n.2378G>A n.6240G>A c.3998G>A (p.Ser1333Asn) c.*4144G>A (n.*4144G>A) c.*4067G>A (n.*4067G>A) c.*4372G>A (n.*4372G>A) c.*4103G>A (n.*4103G>A) c.3704G>A (p.Ser1235Asn) c.2722+604G>A c.4055G>A (p.Ser1352Asn) c.3034G>A n.3339G>A n.4162G>A c.4172G>A (p.Ser1391Asn) c.4151G>A (p.Ser1384Asn) c.4133G>A (p.Ser1378Asn) c.4115G>A (p.Ser1372Asn) c.4076G>A (p.Ser1359Asn) c.4037G>A (p.Ser1346Asn) c.3761G>A (p.Ser1254Asn) c.3722G>A (p.Ser1241Asn) c.4112G>A (p.Ser1371Asn) c.4019G>A (p.Ser1340Asn) c.3494G>A (p.Ser1165Asn) c.3809G>A (p.Ser1270Asn) n.8381G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.9475760G>C | CA351693570 | SETD5 | n.2953G>C c.4094G>C (p.Ser1365Thr) n.4987G>C n.2378G>C n.6240G>C c.3998G>C (p.Ser1333Thr) c.*4144G>C (n.*4144G>C) c.*4067G>C (n.*4067G>C) c.*4372G>C (n.*4372G>C) c.*4103G>C (n.*4103G>C) c.3704G>C (p.Ser1235Thr) c.2722+604G>C c.4055G>C (p.Ser1352Thr) c.3034G>C n.3339G>C n.4162G>C c.4172G>C (p.Ser1391Thr) c.4151G>C (p.Ser1384Thr) c.4133G>C (p.Ser1378Thr) c.4115G>C (p.Ser1372Thr) c.4076G>C (p.Ser1359Thr) c.4037G>C (p.Ser1346Thr) c.3761G>C (p.Ser1254Thr) c.3722G>C (p.Ser1241Thr) c.4112G>C (p.Ser1371Thr) c.4019G>C (p.Ser1340Thr) c.3494G>C (p.Ser1165Thr) c.3809G>C (p.Ser1270Thr) n.8381G>C | |
3 | g.9475760G= | CA1344742791 | SETD5 | n.2953G= c.4094G= (p.Ser1365=) n.4987G= n.2378G= n.6240G= c.3998G= (p.Ser1333=) c.*4144G= (n.*4144G=) c.*4067G= (n.*4067G=) c.*4372G= (n.*4372G=) c.*4103G= (n.*4103G=) c.3704G= (p.Ser1235=) c.2722+604G= c.4055G= (p.Ser1352=) c.3034G= n.3339G= n.4162G= c.4172G= (p.Ser1391=) c.4151G= (p.Ser1384=) c.4133G= (p.Ser1378=) c.4115G= (p.Ser1372=) c.4076G= (p.Ser1359=) c.4037G= (p.Ser1346=) c.3761G= (p.Ser1254=) c.3722G= (p.Ser1241=) c.4112G= (p.Ser1371=) c.4019G= (p.Ser1340=) c.3494G= (p.Ser1165=) c.3809G= (p.Ser1270=) n.8381G= | |
3 | g.9475760G>T | CA351693576 | SETD5 | n.2953G>T c.4094G>T (p.Ser1365Ile) n.4987G>T n.2378G>T n.6240G>T c.3998G>T (p.Ser1333Ile) c.*4144G>T (n.*4144G>T) c.*4067G>T (n.*4067G>T) c.*4372G>T (n.*4372G>T) c.*4103G>T (n.*4103G>T) c.3704G>T (p.Ser1235Ile) c.2722+604G>T c.4055G>T (p.Ser1352Ile) c.3034G>T n.3339G>T n.4162G>T c.4172G>T (p.Ser1391Ile) c.4151G>T (p.Ser1384Ile) c.4133G>T (p.Ser1378Ile) c.4115G>T (p.Ser1372Ile) c.4076G>T (p.Ser1359Ile) c.4037G>T (p.Ser1346Ile) c.3761G>T (p.Ser1254Ile) c.3722G>T (p.Ser1241Ile) c.4112G>T (p.Ser1371Ile) c.4019G>T (p.Ser1340Ile) c.3494G>T (p.Ser1165Ile) c.3809G>T (p.Ser1270Ile) n.8381G>T | |
3 | g.9475761C>A | CA351693580 | SETD5 | n.2954C>A c.4095C>A (p.Ser1365Arg) n.4988C>A n.2379C>A n.6241C>A c.3999C>A (p.Ser1333Arg) c.*4145C>A (n.*4145C>A) c.*4068C>A (n.*4068C>A) c.*4373C>A (n.*4373C>A) c.*4104C>A (n.*4104C>A) c.3705C>A (p.Ser1235Arg) c.2722+605C>A c.4056C>A (p.Ser1352Arg) c.3035C>A n.3340C>A n.4163C>A c.4173C>A (p.Ser1391Arg) c.4152C>A (p.Ser1384Arg) c.4134C>A (p.Ser1378Arg) c.4116C>A (p.Ser1372Arg) c.4077C>A (p.Ser1359Arg) c.4038C>A (p.Ser1346Arg) c.3762C>A (p.Ser1254Arg) c.3723C>A (p.Ser1241Arg) c.4113C>A (p.Ser1371Arg) c.4020C>A (p.Ser1340Arg) c.3495C>A (p.Ser1165Arg) c.3810C>A (p.Ser1270Arg) n.8382C>A | |
3 | g.9475761C>G | CA351693584 | SETD5 | n.2954C>G c.4095C>G (p.Ser1365Arg) n.4988C>G n.2379C>G n.6241C>G c.3999C>G (p.Ser1333Arg) c.*4145C>G (n.*4145C>G) c.*4068C>G (n.*4068C>G) c.*4373C>G (n.*4373C>G) c.*4104C>G (n.*4104C>G) c.3705C>G (p.Ser1235Arg) c.2722+605C>G c.4056C>G (p.Ser1352Arg) c.3035C>G n.3340C>G n.4163C>G c.4173C>G (p.Ser1391Arg) c.4152C>G (p.Ser1384Arg) c.4134C>G (p.Ser1378Arg) c.4116C>G (p.Ser1372Arg) c.4077C>G (p.Ser1359Arg) c.4038C>G (p.Ser1346Arg) c.3762C>G (p.Ser1254Arg) c.3723C>G (p.Ser1241Arg) c.4113C>G (p.Ser1371Arg) c.4020C>G (p.Ser1340Arg) c.3495C>G (p.Ser1165Arg) c.3810C>G (p.Ser1270Arg) n.8382C>G | |
3 | g.9475761C>T | CA432528469 | SETD5 | n.2954C>T c.4095C>T (p.Ser1365=) n.4988C>T n.2379C>T n.6241C>T c.3999C>T (p.Ser1333=) c.*4145C>T (n.*4145C>T) c.*4068C>T (n.*4068C>T) c.*4373C>T (n.*4373C>T) c.*4104C>T (n.*4104C>T) c.3705C>T (p.Ser1235=) c.2722+605C>T c.4056C>T (p.Ser1352=) c.3035C>T n.3340C>T n.4163C>T c.4173C>T (p.Ser1391=) c.4152C>T (p.Ser1384=) c.4134C>T (p.Ser1378=) c.4116C>T (p.Ser1372=) c.4077C>T (p.Ser1359=) c.4038C>T (p.Ser1346=) c.3762C>T (p.Ser1254=) c.3723C>T (p.Ser1241=) c.4113C>T (p.Ser1371=) c.4020C>T (p.Ser1340=) c.3495C>T (p.Ser1165=) c.3810C>T (p.Ser1270=) n.8382C>T | gnomAD v4 |
3 | g.9475762A>C | CA351693590 | SETD5 | n.2955A>C c.4096A>C (p.Asn1366His) n.4989A>C n.2380A>C n.6242A>C c.4000A>C (p.Asn1334His) c.*4146A>C (n.*4146A>C) c.*4069A>C (n.*4069A>C) c.*4374A>C (n.*4374A>C) c.*4105A>C (n.*4105A>C) c.3706A>C (p.Asn1236His) c.2722+606A>C c.4057A>C (p.Asn1353His) c.3036A>C n.3341A>C n.4164A>C c.4174A>C (p.Asn1392His) c.4153A>C (p.Asn1385His) c.4135A>C (p.Asn1379His) c.4117A>C (p.Asn1373His) c.4078A>C (p.Asn1360His) c.4039A>C (p.Asn1347His) c.3763A>C (p.Asn1255His) c.3724A>C (p.Asn1242His) c.4114A>C (p.Asn1372His) c.4021A>C (p.Asn1341His) c.3496A>C (p.Asn1166His) c.3811A>C (p.Asn1271His) n.8383A>C | |
3 | g.9475762A>G | CA351693593 | SETD5 | n.2955A>G c.4096A>G (p.Asn1366Asp) n.4989A>G n.2380A>G n.6242A>G c.4000A>G (p.Asn1334Asp) c.*4146A>G (n.*4146A>G) c.*4069A>G (n.*4069A>G) c.*4374A>G (n.*4374A>G) c.*4105A>G (n.*4105A>G) c.3706A>G (p.Asn1236Asp) c.2722+606A>G c.4057A>G (p.Asn1353Asp) c.3036A>G n.3341A>G n.4164A>G c.4174A>G (p.Asn1392Asp) c.4153A>G (p.Asn1385Asp) c.4135A>G (p.Asn1379Asp) c.4117A>G (p.Asn1373Asp) c.4078A>G (p.Asn1360Asp) c.4039A>G (p.Asn1347Asp) c.3763A>G (p.Asn1255Asp) c.3724A>G (p.Asn1242Asp) c.4114A>G (p.Asn1372Asp) c.4021A>G (p.Asn1341Asp) c.3496A>G (p.Asn1166Asp) c.3811A>G (p.Asn1271Asp) n.8383A>G | |
3 | g.9475762A>T | CA351693595 | SETD5 | n.2955A>T c.4096A>T (p.Asn1366Tyr) n.4989A>T n.2380A>T n.6242A>T c.4000A>T (p.Asn1334Tyr) c.*4146A>T (n.*4146A>T) c.*4069A>T (n.*4069A>T) c.*4374A>T (n.*4374A>T) c.*4105A>T (n.*4105A>T) c.3706A>T (p.Asn1236Tyr) c.2722+606A>T c.4057A>T (p.Asn1353Tyr) c.3036A>T n.3341A>T n.4164A>T c.4174A>T (p.Asn1392Tyr) c.4153A>T (p.Asn1385Tyr) c.4135A>T (p.Asn1379Tyr) c.4117A>T (p.Asn1373Tyr) c.4078A>T (p.Asn1360Tyr) c.4039A>T (p.Asn1347Tyr) c.3763A>T (p.Asn1255Tyr) c.3724A>T (p.Asn1242Tyr) c.4114A>T (p.Asn1372Tyr) c.4021A>T (p.Asn1341Tyr) c.3496A>T (p.Asn1166Tyr) c.3811A>T (p.Asn1271Tyr) n.8383A>T | |
3 | g.9475763A= | CA1344742792 | SETD5 | n.2956A= c.4097A= (p.Asn1366=) n.4990A= n.2381A= n.6243A= c.4001A= (p.Asn1334=) c.*4147A= (n.*4147A=) c.*4070A= (n.*4070A=) c.*4375A= (n.*4375A=) c.*4106A= (n.*4106A=) c.3707A= (p.Asn1236=) c.2722+607A= c.4058A= (p.Asn1353=) c.3037A= n.3342A= n.4165A= c.4175A= (p.Asn1392=) c.4154A= (p.Asn1385=) c.4136A= (p.Asn1379=) c.4118A= (p.Asn1373=) c.4079A= (p.Asn1360=) c.4040A= (p.Asn1347=) c.3764A= (p.Asn1255=) c.3725A= (p.Asn1242=) c.4115A= (p.Asn1372=) c.4022A= (p.Asn1341=) c.3497A= (p.Asn1166=) c.3812A= (p.Asn1271=) n.8384A= | |
3 | g.9475763A>C | CA351693604 | SETD5 | n.2956A>C c.4097A>C (p.Asn1366Thr) n.4990A>C n.2381A>C n.6243A>C c.4001A>C (p.Asn1334Thr) c.*4147A>C (n.*4147A>C) c.*4070A>C (n.*4070A>C) c.*4375A>C (n.*4375A>C) c.*4106A>C (n.*4106A>C) c.3707A>C (p.Asn1236Thr) c.2722+607A>C c.4058A>C (p.Asn1353Thr) c.3037A>C n.3342A>C n.4165A>C c.4175A>C (p.Asn1392Thr) c.4154A>C (p.Asn1385Thr) c.4136A>C (p.Asn1379Thr) c.4118A>C (p.Asn1373Thr) c.4079A>C (p.Asn1360Thr) c.4040A>C (p.Asn1347Thr) c.3764A>C (p.Asn1255Thr) c.3725A>C (p.Asn1242Thr) c.4115A>C (p.Asn1372Thr) c.4022A>C (p.Asn1341Thr) c.3497A>C (p.Asn1166Thr) c.3812A>C (p.Asn1271Thr) n.8384A>C | |
3 | g.9475763A>G | CA2239847 | SETD5 | n.2956A>G c.4097A>G (p.Asn1366Ser) n.4990A>G n.2381A>G n.6243A>G c.4001A>G (p.Asn1334Ser) c.*4147A>G (n.*4147A>G) c.*4070A>G (n.*4070A>G) c.*4375A>G (n.*4375A>G) c.*4106A>G (n.*4106A>G) c.3707A>G (p.Asn1236Ser) c.2722+607A>G c.4058A>G (p.Asn1353Ser) c.3037A>G n.3342A>G n.4165A>G c.4175A>G (p.Asn1392Ser) c.4154A>G (p.Asn1385Ser) c.4136A>G (p.Asn1379Ser) c.4118A>G (p.Asn1373Ser) c.4079A>G (p.Asn1360Ser) c.4040A>G (p.Asn1347Ser) c.3764A>G (p.Asn1255Ser) c.3725A>G (p.Asn1242Ser) c.4115A>G (p.Asn1372Ser) c.4022A>G (p.Asn1341Ser) c.3497A>G (p.Asn1166Ser) c.3812A>G (p.Asn1271Ser) n.8384A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475763A>T | CA351693600 | SETD5 | n.2956A>T c.4097A>T (p.Asn1366Ile) n.4990A>T n.2381A>T n.6243A>T c.4001A>T (p.Asn1334Ile) c.*4147A>T (n.*4147A>T) c.*4070A>T (n.*4070A>T) c.*4375A>T (n.*4375A>T) c.*4106A>T (n.*4106A>T) c.3707A>T (p.Asn1236Ile) c.2722+607A>T c.4058A>T (p.Asn1353Ile) c.3037A>T n.3342A>T n.4165A>T c.4175A>T (p.Asn1392Ile) c.4154A>T (p.Asn1385Ile) c.4136A>T (p.Asn1379Ile) c.4118A>T (p.Asn1373Ile) c.4079A>T (p.Asn1360Ile) c.4040A>T (p.Asn1347Ile) c.3764A>T (p.Asn1255Ile) c.3725A>T (p.Asn1242Ile) c.4115A>T (p.Asn1372Ile) c.4022A>T (p.Asn1341Ile) c.3497A>T (p.Asn1166Ile) c.3812A>T (p.Asn1271Ile) n.8384A>T | |
3 | g.9475764T>A | CA351693605 | SETD5 | n.2957T>A c.4098T>A (p.Asn1366Lys) n.4991T>A n.2382T>A n.6244T>A c.4002T>A (p.Asn1334Lys) c.*4148T>A (n.*4148T>A) c.*4071T>A (n.*4071T>A) c.*4376T>A (n.*4376T>A) c.*4107T>A (n.*4107T>A) c.3708T>A (p.Asn1236Lys) c.2722+608T>A c.4059T>A (p.Asn1353Lys) c.3038T>A n.3343T>A n.4166T>A c.4176T>A (p.Asn1392Lys) c.4155T>A (p.Asn1385Lys) c.4137T>A (p.Asn1379Lys) c.4119T>A (p.Asn1373Lys) c.4080T>A (p.Asn1360Lys) c.4041T>A (p.Asn1347Lys) c.3765T>A (p.Asn1255Lys) c.3726T>A (p.Asn1242Lys) c.4116T>A (p.Asn1372Lys) c.4023T>A (p.Asn1341Lys) c.3498T>A (p.Asn1166Lys) c.3813T>A (p.Asn1271Lys) n.8385T>A | |
3 | g.9475764T>C | CA432528477 | SETD5 | n.2957T>C c.4098T>C (p.Asn1366=) n.4991T>C n.2382T>C n.6244T>C c.4002T>C (p.Asn1334=) c.*4148T>C (n.*4148T>C) c.*4071T>C (n.*4071T>C) c.*4376T>C (n.*4376T>C) c.*4107T>C (n.*4107T>C) c.3708T>C (p.Asn1236=) c.2722+608T>C c.4059T>C (p.Asn1353=) c.3038T>C n.3343T>C n.4166T>C c.4176T>C (p.Asn1392=) c.4155T>C (p.Asn1385=) c.4137T>C (p.Asn1379=) c.4119T>C (p.Asn1373=) c.4080T>C (p.Asn1360=) c.4041T>C (p.Asn1347=) c.3765T>C (p.Asn1255=) c.3726T>C (p.Asn1242=) c.4116T>C (p.Asn1372=) c.4023T>C (p.Asn1341=) c.3498T>C (p.Asn1166=) c.3813T>C (p.Asn1271=) n.8385T>C | |
3 | g.9475764T>G | CA351693608 | SETD5 | n.2957T>G c.4098T>G (p.Asn1366Lys) n.4991T>G n.2382T>G n.6244T>G c.4002T>G (p.Asn1334Lys) c.*4148T>G (n.*4148T>G) c.*4071T>G (n.*4071T>G) c.*4376T>G (n.*4376T>G) c.*4107T>G (n.*4107T>G) c.3708T>G (p.Asn1236Lys) c.2722+608T>G c.4059T>G (p.Asn1353Lys) c.3038T>G n.3343T>G n.4166T>G c.4176T>G (p.Asn1392Lys) c.4155T>G (p.Asn1385Lys) c.4137T>G (p.Asn1379Lys) c.4119T>G (p.Asn1373Lys) c.4080T>G (p.Asn1360Lys) c.4041T>G (p.Asn1347Lys) c.3765T>G (p.Asn1255Lys) c.3726T>G (p.Asn1242Lys) c.4116T>G (p.Asn1372Lys) c.4023T>G (p.Asn1341Lys) c.3498T>G (p.Asn1166Lys) c.3813T>G (p.Asn1271Lys) n.8385T>G | |
3 | g.9475765C>A | CA351693613 | SETD5 | n.2958C>A c.4099C>A (p.Leu1367Ile) n.4992C>A n.2383C>A n.6245C>A c.4003C>A (p.Leu1335Ile) c.*4149C>A (n.*4149C>A) c.*4072C>A (n.*4072C>A) c.*4377C>A (n.*4377C>A) c.*4108C>A (n.*4108C>A) c.3709C>A (p.Leu1237Ile) c.2722+609C>A c.4060C>A (p.Leu1354Ile) c.3039C>A n.3344C>A n.4167C>A c.4177C>A (p.Leu1393Ile) c.4156C>A (p.Leu1386Ile) c.4138C>A (p.Leu1380Ile) c.4120C>A (p.Leu1374Ile) c.4081C>A (p.Leu1361Ile) c.4042C>A (p.Leu1348Ile) c.3766C>A (p.Leu1256Ile) c.3727C>A (p.Leu1243Ile) c.4117C>A (p.Leu1373Ile) c.4024C>A (p.Leu1342Ile) c.3499C>A (p.Leu1167Ile) c.3814C>A (p.Leu1272Ile) n.8386C>A | |
3 | g.9475765C= | CA1344742793 | SETD5 | n.2958C= c.4099C= (p.Leu1367=) n.4992C= n.2383C= n.6245C= c.4003C= (p.Leu1335=) c.*4149C= (n.*4149C=) c.*4072C= (n.*4072C=) c.*4377C= (n.*4377C=) c.*4108C= (n.*4108C=) c.3709C= (p.Leu1237=) c.2722+609C= c.4060C= (p.Leu1354=) c.3039C= n.3344C= n.4167C= c.4177C= (p.Leu1393=) c.4156C= (p.Leu1386=) c.4138C= (p.Leu1380=) c.4120C= (p.Leu1374=) c.4081C= (p.Leu1361=) c.4042C= (p.Leu1348=) c.3766C= (p.Leu1256=) c.3727C= (p.Leu1243=) c.4117C= (p.Leu1373=) c.4024C= (p.Leu1342=) c.3499C= (p.Leu1167=) c.3814C= (p.Leu1272=) n.8386C= | |
3 | g.9475765C>G | CA351693620 | SETD5 | n.2958C>G c.4099C>G (p.Leu1367Val) n.4992C>G n.2383C>G n.6245C>G c.4003C>G (p.Leu1335Val) c.*4149C>G (n.*4149C>G) c.*4072C>G (n.*4072C>G) c.*4377C>G (n.*4377C>G) c.*4108C>G (n.*4108C>G) c.3709C>G (p.Leu1237Val) c.2722+609C>G c.4060C>G (p.Leu1354Val) c.3039C>G n.3344C>G n.4167C>G c.4177C>G (p.Leu1393Val) c.4156C>G (p.Leu1386Val) c.4138C>G (p.Leu1380Val) c.4120C>G (p.Leu1374Val) c.4081C>G (p.Leu1361Val) c.4042C>G (p.Leu1348Val) c.3766C>G (p.Leu1256Val) c.3727C>G (p.Leu1243Val) c.4117C>G (p.Leu1373Val) c.4024C>G (p.Leu1342Val) c.3499C>G (p.Leu1167Val) c.3814C>G (p.Leu1272Val) n.8386C>G | |
3 | g.9475765C>T | CA351693617 | SETD5 | n.2958C>T c.4099C>T (p.Leu1367Phe) n.4992C>T n.2383C>T n.6245C>T c.4003C>T (p.Leu1335Phe) c.*4149C>T (n.*4149C>T) c.*4072C>T (n.*4072C>T) c.*4377C>T (n.*4377C>T) c.*4108C>T (n.*4108C>T) c.3709C>T (p.Leu1237Phe) c.2722+609C>T c.4060C>T (p.Leu1354Phe) c.3039C>T n.3344C>T n.4167C>T c.4177C>T (p.Leu1393Phe) c.4156C>T (p.Leu1386Phe) c.4138C>T (p.Leu1380Phe) c.4120C>T (p.Leu1374Phe) c.4081C>T (p.Leu1361Phe) c.4042C>T (p.Leu1348Phe) c.3766C>T (p.Leu1256Phe) c.3727C>T (p.Leu1243Phe) c.4117C>T (p.Leu1373Phe) c.4024C>T (p.Leu1342Phe) c.3499C>T (p.Leu1167Phe) c.3814C>T (p.Leu1272Phe) n.8386C>T | dbSNP gnomAD v2 |
3 | g.9475766T>A | CA351693624 | SETD5 | n.2959T>A c.4100T>A (p.Leu1367His) n.4993T>A n.2384T>A n.6246T>A c.4004T>A (p.Leu1335His) c.*4150T>A (n.*4150T>A) c.*4073T>A (n.*4073T>A) c.*4378T>A (n.*4378T>A) c.*4109T>A (n.*4109T>A) c.3710T>A (p.Leu1237His) c.2722+610T>A c.4061T>A (p.Leu1354His) c.3040T>A n.3345T>A n.4168T>A c.4178T>A (p.Leu1393His) c.4157T>A (p.Leu1386His) c.4139T>A (p.Leu1380His) c.4121T>A (p.Leu1374His) c.4082T>A (p.Leu1361His) c.4043T>A (p.Leu1348His) c.3767T>A (p.Leu1256His) c.3728T>A (p.Leu1243His) c.4118T>A (p.Leu1373His) c.4025T>A (p.Leu1342His) c.3500T>A (p.Leu1167His) c.3815T>A (p.Leu1272His) n.8387T>A | |
3 | g.9475766T>C | CA351693631 | SETD5 | n.2959T>C c.4100T>C (p.Leu1367Pro) n.4993T>C n.2384T>C n.6246T>C c.4004T>C (p.Leu1335Pro) c.*4150T>C (n.*4150T>C) c.*4073T>C (n.*4073T>C) c.*4378T>C (n.*4378T>C) c.*4109T>C (n.*4109T>C) c.3710T>C (p.Leu1237Pro) c.2722+610T>C c.4061T>C (p.Leu1354Pro) c.3040T>C n.3345T>C n.4168T>C c.4178T>C (p.Leu1393Pro) c.4157T>C (p.Leu1386Pro) c.4139T>C (p.Leu1380Pro) c.4121T>C (p.Leu1374Pro) c.4082T>C (p.Leu1361Pro) c.4043T>C (p.Leu1348Pro) c.3767T>C (p.Leu1256Pro) c.3728T>C (p.Leu1243Pro) c.4118T>C (p.Leu1373Pro) c.4025T>C (p.Leu1342Pro) c.3500T>C (p.Leu1167Pro) c.3815T>C (p.Leu1272Pro) n.8387T>C | |
3 | g.9475766T>G | CA351693627 | SETD5 | n.2959T>G c.4100T>G (p.Leu1367Arg) n.4993T>G n.2384T>G n.6246T>G c.4004T>G (p.Leu1335Arg) c.*4150T>G (n.*4150T>G) c.*4073T>G (n.*4073T>G) c.*4378T>G (n.*4378T>G) c.*4109T>G (n.*4109T>G) c.3710T>G (p.Leu1237Arg) c.2722+610T>G c.4061T>G (p.Leu1354Arg) c.3040T>G n.3345T>G n.4168T>G c.4178T>G (p.Leu1393Arg) c.4157T>G (p.Leu1386Arg) c.4139T>G (p.Leu1380Arg) c.4121T>G (p.Leu1374Arg) c.4082T>G (p.Leu1361Arg) c.4043T>G (p.Leu1348Arg) c.3767T>G (p.Leu1256Arg) c.3728T>G (p.Leu1243Arg) c.4118T>G (p.Leu1373Arg) c.4025T>G (p.Leu1342Arg) c.3500T>G (p.Leu1167Arg) c.3815T>G (p.Leu1272Arg) n.8387T>G | |
3 | g.9475767T>A | CA432528482 | SETD5 | n.2960T>A c.4101T>A (p.Leu1367=) n.4994T>A n.2385T>A n.6247T>A c.4005T>A (p.Leu1335=) c.*4151T>A (n.*4151T>A) c.*4074T>A (n.*4074T>A) c.*4379T>A (n.*4379T>A) c.*4110T>A (n.*4110T>A) c.3711T>A (p.Leu1237=) c.2722+611T>A c.4062T>A (p.Leu1354=) c.3041T>A n.3346T>A n.4169T>A c.4179T>A (p.Leu1393=) c.4158T>A (p.Leu1386=) c.4140T>A (p.Leu1380=) c.4122T>A (p.Leu1374=) c.4083T>A (p.Leu1361=) c.4044T>A (p.Leu1348=) c.3768T>A (p.Leu1256=) c.3729T>A (p.Leu1243=) c.4119T>A (p.Leu1373=) c.4026T>A (p.Leu1342=) c.3501T>A (p.Leu1167=) c.3816T>A (p.Leu1272=) n.8388T>A | |
3 | g.9475767T>C | CA432528483 | SETD5 | n.2960T>C c.4101T>C (p.Leu1367=) n.4994T>C n.2385T>C n.6247T>C c.4005T>C (p.Leu1335=) c.*4151T>C (n.*4151T>C) c.*4074T>C (n.*4074T>C) c.*4379T>C (n.*4379T>C) c.*4110T>C (n.*4110T>C) c.3711T>C (p.Leu1237=) c.2722+611T>C c.4062T>C (p.Leu1354=) c.3041T>C n.3346T>C n.4169T>C c.4179T>C (p.Leu1393=) c.4158T>C (p.Leu1386=) c.4140T>C (p.Leu1380=) c.4122T>C (p.Leu1374=) c.4083T>C (p.Leu1361=) c.4044T>C (p.Leu1348=) c.3768T>C (p.Leu1256=) c.3729T>C (p.Leu1243=) c.4119T>C (p.Leu1373=) c.4026T>C (p.Leu1342=) c.3501T>C (p.Leu1167=) c.3816T>C (p.Leu1272=) n.8388T>C | |
3 | g.9475767T>G | CA432528484 | SETD5 | n.2960T>G c.4101T>G (p.Leu1367=) n.4994T>G n.2385T>G n.6247T>G c.4005T>G (p.Leu1335=) c.*4151T>G (n.*4151T>G) c.*4074T>G (n.*4074T>G) c.*4379T>G (n.*4379T>G) c.*4110T>G (n.*4110T>G) c.3711T>G (p.Leu1237=) c.2722+611T>G c.4062T>G (p.Leu1354=) c.3041T>G n.3346T>G n.4169T>G c.4179T>G (p.Leu1393=) c.4158T>G (p.Leu1386=) c.4140T>G (p.Leu1380=) c.4122T>G (p.Leu1374=) c.4083T>G (p.Leu1361=) c.4044T>G (p.Leu1348=) c.3768T>G (p.Leu1256=) c.3729T>G (p.Leu1243=) c.4119T>G (p.Leu1373=) c.4026T>G (p.Leu1342=) c.3501T>G (p.Leu1167=) c.3816T>G (p.Leu1272=) n.8388T>G | |
3 | g.9475768C>A | CA351693637 | SETD5 | n.2961C>A c.4102C>A (p.Pro1368Thr) n.4995C>A n.2386C>A n.6248C>A c.4006C>A (p.Pro1336Thr) c.*4152C>A (n.*4152C>A) c.*4075C>A (n.*4075C>A) c.*4380C>A (n.*4380C>A) c.*4111C>A (n.*4111C>A) c.3712C>A (p.Pro1238Thr) c.2722+612C>A c.4063C>A (p.Pro1355Thr) c.3042C>A n.3347C>A n.4170C>A c.4180C>A (p.Pro1394Thr) c.4159C>A (p.Pro1387Thr) c.4141C>A (p.Pro1381Thr) c.4123C>A (p.Pro1375Thr) c.4084C>A (p.Pro1362Thr) c.4045C>A (p.Pro1349Thr) c.3769C>A (p.Pro1257Thr) c.3730C>A (p.Pro1244Thr) c.4120C>A (p.Pro1374Thr) c.4027C>A (p.Pro1343Thr) c.3502C>A (p.Pro1168Thr) c.3817C>A (p.Pro1273Thr) n.8389C>A | |
3 | g.9475768C= | CA1344742794 | SETD5 | n.2961C= c.4102C= (p.Pro1368=) n.4995C= n.2386C= n.6248C= c.4006C= (p.Pro1336=) c.*4152C= (n.*4152C=) c.*4075C= (n.*4075C=) c.*4380C= (n.*4380C=) c.*4111C= (n.*4111C=) c.3712C= (p.Pro1238=) c.2722+612C= c.4063C= (p.Pro1355=) c.3042C= n.3347C= n.4170C= c.4180C= (p.Pro1394=) c.4159C= (p.Pro1387=) c.4141C= (p.Pro1381=) c.4123C= (p.Pro1375=) c.4084C= (p.Pro1362=) c.4045C= (p.Pro1349=) c.3769C= (p.Pro1257=) c.3730C= (p.Pro1244=) c.4120C= (p.Pro1374=) c.4027C= (p.Pro1343=) c.3502C= (p.Pro1168=) c.3817C= (p.Pro1273=) n.8389C= | |
3 | g.9475768C>G | CA351693640 | SETD5 | n.2961C>G c.4102C>G (p.Pro1368Ala) n.4995C>G n.2386C>G n.6248C>G c.4006C>G (p.Pro1336Ala) c.*4152C>G (n.*4152C>G) c.*4075C>G (n.*4075C>G) c.*4380C>G (n.*4380C>G) c.*4111C>G (n.*4111C>G) c.3712C>G (p.Pro1238Ala) c.2722+612C>G c.4063C>G (p.Pro1355Ala) c.3042C>G n.3347C>G n.4170C>G c.4180C>G (p.Pro1394Ala) c.4159C>G (p.Pro1387Ala) c.4141C>G (p.Pro1381Ala) c.4123C>G (p.Pro1375Ala) c.4084C>G (p.Pro1362Ala) c.4045C>G (p.Pro1349Ala) c.3769C>G (p.Pro1257Ala) c.3730C>G (p.Pro1244Ala) c.4120C>G (p.Pro1374Ala) c.4027C>G (p.Pro1343Ala) c.3502C>G (p.Pro1168Ala) c.3817C>G (p.Pro1273Ala) n.8389C>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.9475768C>T | CA2239848 | SETD5 | n.2961C>T c.4102C>T (p.Pro1368Ser) n.4995C>T n.2386C>T n.6248C>T c.4006C>T (p.Pro1336Ser) c.*4152C>T (n.*4152C>T) c.*4075C>T (n.*4075C>T) c.*4380C>T (n.*4380C>T) c.*4111C>T (n.*4111C>T) c.3712C>T (p.Pro1238Ser) c.2722+612C>T c.4063C>T (p.Pro1355Ser) c.3042C>T n.3347C>T n.4170C>T c.4180C>T (p.Pro1394Ser) c.4159C>T (p.Pro1387Ser) c.4141C>T (p.Pro1381Ser) c.4123C>T (p.Pro1375Ser) c.4084C>T (p.Pro1362Ser) c.4045C>T (p.Pro1349Ser) c.3769C>T (p.Pro1257Ser) c.3730C>T (p.Pro1244Ser) c.4120C>T (p.Pro1374Ser) c.4027C>T (p.Pro1343Ser) c.3502C>T (p.Pro1168Ser) c.3817C>T (p.Pro1273Ser) n.8389C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.9475769C>A | CA351693651 | SETD5 | n.2962C>A c.4103C>A (p.Pro1368Gln) n.4996C>A n.2387C>A n.6249C>A c.4007C>A (p.Pro1336Gln) c.*4153C>A (n.*4153C>A) c.*4076C>A (n.*4076C>A) c.*4381C>A (n.*4381C>A) c.*4112C>A (n.*4112C>A) c.3713C>A (p.Pro1238Gln) c.2722+613C>A c.4064C>A (p.Pro1355Gln) c.3043C>A n.3348C>A n.4171C>A c.4181C>A (p.Pro1394Gln) c.4160C>A (p.Pro1387Gln) c.4142C>A (p.Pro1381Gln) c.4124C>A (p.Pro1375Gln) c.4085C>A (p.Pro1362Gln) c.4046C>A (p.Pro1349Gln) c.3770C>A (p.Pro1257Gln) c.3731C>A (p.Pro1244Gln) c.4121C>A (p.Pro1374Gln) c.4028C>A (p.Pro1343Gln) c.3503C>A (p.Pro1168Gln) c.3818C>A (p.Pro1273Gln) n.8390C>A | |
3 | g.9475769C= | CA1344742795 | SETD5 | n.2962C= c.4103C= (p.Pro1368=) n.4996C= n.2387C= n.6249C= c.4007C= (p.Pro1336=) c.*4153C= (n.*4153C=) c.*4076C= (n.*4076C=) c.*4381C= (n.*4381C=) c.*4112C= (n.*4112C=) c.3713C= (p.Pro1238=) c.2722+613C= c.4064C= (p.Pro1355=) c.3043C= n.3348C= n.4171C= c.4181C= (p.Pro1394=) c.4160C= (p.Pro1387=) c.4142C= (p.Pro1381=) c.4124C= (p.Pro1375=) c.4085C= (p.Pro1362=) c.4046C= (p.Pro1349=) c.3770C= (p.Pro1257=) c.3731C= (p.Pro1244=) c.4121C= (p.Pro1374=) c.4028C= (p.Pro1343=) c.3503C= (p.Pro1168=) c.3818C= (p.Pro1273=) n.8390C= | |
3 | g.9475769C>G | CA351693655 | SETD5 | n.2962C>G c.4103C>G (p.Pro1368Arg) n.4996C>G n.2387C>G n.6249C>G c.4007C>G (p.Pro1336Arg) c.*4153C>G (n.*4153C>G) c.*4076C>G (n.*4076C>G) c.*4381C>G (n.*4381C>G) c.*4112C>G (n.*4112C>G) c.3713C>G (p.Pro1238Arg) c.2722+613C>G c.4064C>G (p.Pro1355Arg) c.3043C>G n.3348C>G n.4171C>G c.4181C>G (p.Pro1394Arg) c.4160C>G (p.Pro1387Arg) c.4142C>G (p.Pro1381Arg) c.4124C>G (p.Pro1375Arg) c.4085C>G (p.Pro1362Arg) c.4046C>G (p.Pro1349Arg) c.3770C>G (p.Pro1257Arg) c.3731C>G (p.Pro1244Arg) c.4121C>G (p.Pro1374Arg) c.4028C>G (p.Pro1343Arg) c.3503C>G (p.Pro1168Arg) c.3818C>G (p.Pro1273Arg) n.8390C>G | |
3 | g.9475769C>T | CA2239849 | SETD5 | n.2962C>T c.4103C>T (p.Pro1368Leu) n.4996C>T n.2387C>T n.6249C>T c.4007C>T (p.Pro1336Leu) c.*4153C>T (n.*4153C>T) c.*4076C>T (n.*4076C>T) c.*4381C>T (n.*4381C>T) c.*4112C>T (n.*4112C>T) c.3713C>T (p.Pro1238Leu) c.2722+613C>T c.4064C>T (p.Pro1355Leu) c.3043C>T n.3348C>T n.4171C>T c.4181C>T (p.Pro1394Leu) c.4160C>T (p.Pro1387Leu) c.4142C>T (p.Pro1381Leu) c.4124C>T (p.Pro1375Leu) c.4085C>T (p.Pro1362Leu) c.4046C>T (p.Pro1349Leu) c.3770C>T (p.Pro1257Leu) c.3731C>T (p.Pro1244Leu) c.4121C>T (p.Pro1374Leu) c.4028C>T (p.Pro1343Leu) c.3503C>T (p.Pro1168Leu) c.3818C>T (p.Pro1273Leu) n.8390C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.9475770A>C | CA432528489 | SETD5 | n.2963A>C c.4104A>C (p.Pro1368=) n.4997A>C n.2388A>C n.6250A>C c.4008A>C (p.Pro1336=) c.*4154A>C (n.*4154A>C) c.*4077A>C (n.*4077A>C) c.*4382A>C (n.*4382A>C) c.*4113A>C (n.*4113A>C) c.3714A>C (p.Pro1238=) c.2722+614A>C c.4065A>C (p.Pro1355=) c.3044A>C n.3349A>C n.4172A>C c.4182A>C (p.Pro1394=) c.4161A>C (p.Pro1387=) c.4143A>C (p.Pro1381=) c.4125A>C (p.Pro1375=) c.4086A>C (p.Pro1362=) c.4047A>C (p.Pro1349=) c.3771A>C (p.Pro1257=) c.3732A>C (p.Pro1244=) c.4122A>C (p.Pro1374=) c.4029A>C (p.Pro1343=) c.3504A>C (p.Pro1168=) c.3819A>C (p.Pro1273=) n.8391A>C | |
3 | g.9475770A>G | CA432528491 | SETD5 | n.2963A>G c.4104A>G (p.Pro1368=) n.4997A>G n.2388A>G n.6250A>G c.4008A>G (p.Pro1336=) c.*4154A>G (n.*4154A>G) c.*4077A>G (n.*4077A>G) c.*4382A>G (n.*4382A>G) c.*4113A>G (n.*4113A>G) c.3714A>G (p.Pro1238=) c.2722+614A>G c.4065A>G (p.Pro1355=) c.3044A>G n.3349A>G n.4172A>G c.4182A>G (p.Pro1394=) c.4161A>G (p.Pro1387=) c.4143A>G (p.Pro1381=) c.4125A>G (p.Pro1375=) c.4086A>G (p.Pro1362=) c.4047A>G (p.Pro1349=) c.3771A>G (p.Pro1257=) c.3732A>G (p.Pro1244=) c.4122A>G (p.Pro1374=) c.4029A>G (p.Pro1343=) c.3504A>G (p.Pro1168=) c.3819A>G (p.Pro1273=) n.8391A>G | |
3 | g.9475770A>T | CA432528493 | SETD5 | n.2963A>T c.4104A>T (p.Pro1368=) n.4997A>T n.2388A>T n.6250A>T c.4008A>T (p.Pro1336=) c.*4154A>T (n.*4154A>T) c.*4077A>T (n.*4077A>T) c.*4382A>T (n.*4382A>T) c.*4113A>T (n.*4113A>T) c.3714A>T (p.Pro1238=) c.2722+614A>T c.4065A>T (p.Pro1355=) c.3044A>T n.3349A>T n.4172A>T c.4182A>T (p.Pro1394=) c.4161A>T (p.Pro1387=) c.4143A>T (p.Pro1381=) c.4125A>T (p.Pro1375=) c.4086A>T (p.Pro1362=) c.4047A>T (p.Pro1349=) c.3771A>T (p.Pro1257=) c.3732A>T (p.Pro1244=) c.4122A>T (p.Pro1374=) c.4029A>T (p.Pro1343=) c.3504A>T (p.Pro1168=) c.3819A>T (p.Pro1273=) n.8391A>T | |
3 | g.9475771A>C | CA432528495 | SETD5 | n.2964A>C c.4105A>C (p.Arg1369=) n.4998A>C n.2389A>C n.6251A>C c.4009A>C (p.Arg1337=) c.*4155A>C (n.*4155A>C) c.*4078A>C (n.*4078A>C) c.*4383A>C (n.*4383A>C) c.*4114A>C (n.*4114A>C) c.3715A>C (p.Arg1239=) c.2722+615A>C c.4066A>C (p.Arg1356=) c.3045A>C n.3350A>C n.4173A>C c.4183A>C (p.Arg1395=) c.4162A>C (p.Arg1388=) c.4144A>C (p.Arg1382=) c.4126A>C (p.Arg1376=) c.4087A>C (p.Arg1363=) c.4048A>C (p.Arg1350=) c.3772A>C (p.Arg1258=) c.3733A>C (p.Arg1245=) c.4123A>C (p.Arg1375=) c.4030A>C (p.Arg1344=) c.3505A>C (p.Arg1169=) c.3820A>C (p.Arg1274=) n.8392A>C | |
3 | g.9475771A>G | CA351693663 | SETD5 | n.2964A>G c.4105A>G (p.Arg1369Gly) n.4998A>G n.2389A>G n.6251A>G c.4009A>G (p.Arg1337Gly) c.*4155A>G (n.*4155A>G) c.*4078A>G (n.*4078A>G) c.*4383A>G (n.*4383A>G) c.*4114A>G (n.*4114A>G) c.3715A>G (p.Arg1239Gly) c.2722+615A>G c.4066A>G (p.Arg1356Gly) c.3045A>G n.3350A>G n.4173A>G c.4183A>G (p.Arg1395Gly) c.4162A>G (p.Arg1388Gly) c.4144A>G (p.Arg1382Gly) c.4126A>G (p.Arg1376Gly) c.4087A>G (p.Arg1363Gly) c.4048A>G (p.Arg1350Gly) c.3772A>G (p.Arg1258Gly) c.3733A>G (p.Arg1245Gly) c.4123A>G (p.Arg1375Gly) c.4030A>G (p.Arg1344Gly) c.3505A>G (p.Arg1169Gly) c.3820A>G (p.Arg1274Gly) n.8392A>G | |
3 | g.9475771A>T | CA351693667 | SETD5 | n.2964A>T c.4105A>T (p.Arg1369Trp) n.4998A>T n.2389A>T n.6251A>T c.4009A>T (p.Arg1337Trp) c.*4155A>T (n.*4155A>T) c.*4078A>T (n.*4078A>T) c.*4383A>T (n.*4383A>T) c.*4114A>T (n.*4114A>T) c.3715A>T (p.Arg1239Trp) c.2722+615A>T c.4066A>T (p.Arg1356Trp) c.3045A>T n.3350A>T n.4173A>T c.4183A>T (p.Arg1395Trp) c.4162A>T (p.Arg1388Trp) c.4144A>T (p.Arg1382Trp) c.4126A>T (p.Arg1376Trp) c.4087A>T (p.Arg1363Trp) c.4048A>T (p.Arg1350Trp) c.3772A>T (p.Arg1258Trp) c.3733A>T (p.Arg1245Trp) c.4123A>T (p.Arg1375Trp) c.4030A>T (p.Arg1344Trp) c.3505A>T (p.Arg1169Trp) c.3820A>T (p.Arg1274Trp) n.8392A>T | |
3 | g.9475772G>A | CA351693671 | SETD5 | n.2965G>A c.4106G>A (p.Arg1369Lys) n.4999G>A n.2390G>A n.6252G>A c.4010G>A (p.Arg1337Lys) c.*4156G>A (n.*4156G>A) c.*4079G>A (n.*4079G>A) c.*4384G>A (n.*4384G>A) c.*4115G>A (n.*4115G>A) c.3716G>A (p.Arg1239Lys) c.2722+616G>A c.4067G>A (p.Arg1356Lys) c.3046G>A n.3351G>A n.4174G>A c.4184G>A (p.Arg1395Lys) c.4163G>A (p.Arg1388Lys) c.4145G>A (p.Arg1382Lys) c.4127G>A (p.Arg1376Lys) c.4088G>A (p.Arg1363Lys) c.4049G>A (p.Arg1350Lys) c.3773G>A (p.Arg1258Lys) c.3734G>A (p.Arg1245Lys) c.4124G>A (p.Arg1375Lys) c.4031G>A (p.Arg1344Lys) c.3506G>A (p.Arg1169Lys) c.3821G>A (p.Arg1274Lys) n.8393G>A | gnomAD v4 |
3 | g.9475772G>C | CA351693675 | SETD5 | n.2965G>C c.4106G>C (p.Arg1369Thr) n.4999G>C n.2390G>C n.6252G>C c.4010G>C (p.Arg1337Thr) c.*4156G>C (n.*4156G>C) c.*4079G>C (n.*4079G>C) c.*4384G>C (n.*4384G>C) c.*4115G>C (n.*4115G>C) c.3716G>C (p.Arg1239Thr) c.2722+616G>C c.4067G>C (p.Arg1356Thr) c.3046G>C n.3351G>C n.4174G>C c.4184G>C (p.Arg1395Thr) c.4163G>C (p.Arg1388Thr) c.4145G>C (p.Arg1382Thr) c.4127G>C (p.Arg1376Thr) c.4088G>C (p.Arg1363Thr) c.4049G>C (p.Arg1350Thr) c.3773G>C (p.Arg1258Thr) c.3734G>C (p.Arg1245Thr) c.4124G>C (p.Arg1375Thr) c.4031G>C (p.Arg1344Thr) c.3506G>C (p.Arg1169Thr) c.3821G>C (p.Arg1274Thr) n.8393G>C | |
3 | g.9475772G>T | CA351693680 | SETD5 | n.2965G>T c.4106G>T (p.Arg1369Met) n.4999G>T n.2390G>T n.6252G>T c.4010G>T (p.Arg1337Met) c.*4156G>T (n.*4156G>T) c.*4079G>T (n.*4079G>T) c.*4384G>T (n.*4384G>T) c.*4115G>T (n.*4115G>T) c.3716G>T (p.Arg1239Met) c.2722+616G>T c.4067G>T (p.Arg1356Met) c.3046G>T n.3351G>T n.4174G>T c.4184G>T (p.Arg1395Met) c.4163G>T (p.Arg1388Met) c.4145G>T (p.Arg1382Met) c.4127G>T (p.Arg1376Met) c.4088G>T (p.Arg1363Met) c.4049G>T (p.Arg1350Met) c.3773G>T (p.Arg1258Met) c.3734G>T (p.Arg1245Met) c.4124G>T (p.Arg1375Met) c.4031G>T (p.Arg1344Met) c.3506G>T (p.Arg1169Met) c.3821G>T (p.Arg1274Met) n.8393G>T | |
3 | g.9475773G>A | CA432528498 | SETD5 | n.2966G>A c.4107G>A (p.Arg1369=) n.5000G>A n.2391G>A n.6253G>A c.4011G>A (p.Arg1337=) c.*4157G>A (n.*4157G>A) c.*4080G>A (n.*4080G>A) c.*4385G>A (n.*4385G>A) c.*4116G>A (n.*4116G>A) c.3717G>A (p.Arg1239=) c.2722+617G>A c.4068G>A (p.Arg1356=) c.3047G>A n.3352G>A n.4175G>A c.4185G>A (p.Arg1395=) c.4164G>A (p.Arg1388=) c.4146G>A (p.Arg1382=) c.4128G>A (p.Arg1376=) c.4089G>A (p.Arg1363=) c.4050G>A (p.Arg1350=) c.3774G>A (p.Arg1258=) c.3735G>A (p.Arg1245=) c.4125G>A (p.Arg1375=) c.4032G>A (p.Arg1344=) c.3507G>A (p.Arg1169=) c.3822G>A (p.Arg1274=) n.8394G>A | |
3 | g.9475773G>C | CA351693684 | SETD5 | n.2966G>C c.4107G>C (p.Arg1369Ser) n.5000G>C n.2391G>C n.6253G>C c.4011G>C (p.Arg1337Ser) c.*4157G>C (n.*4157G>C) c.*4080G>C (n.*4080G>C) c.*4385G>C (n.*4385G>C) c.*4116G>C (n.*4116G>C) c.3717G>C (p.Arg1239Ser) c.2722+617G>C c.4068G>C (p.Arg1356Ser) c.3047G>C n.3352G>C n.4175G>C c.4185G>C (p.Arg1395Ser) c.4164G>C (p.Arg1388Ser) c.4146G>C (p.Arg1382Ser) c.4128G>C (p.Arg1376Ser) c.4089G>C (p.Arg1363Ser) c.4050G>C (p.Arg1350Ser) c.3774G>C (p.Arg1258Ser) c.3735G>C (p.Arg1245Ser) c.4125G>C (p.Arg1375Ser) c.4032G>C (p.Arg1344Ser) c.3507G>C (p.Arg1169Ser) c.3822G>C (p.Arg1274Ser) n.8394G>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.9475773G= | CA1344742796 | SETD5 | n.2966G= c.4107G= (p.Arg1369=) n.5000G= n.2391G= n.6253G= c.4011G= (p.Arg1337=) c.*4157G= (n.*4157G=) c.*4080G= (n.*4080G=) c.*4385G= (n.*4385G=) c.*4116G= (n.*4116G=) c.3717G= (p.Arg1239=) c.2722+617G= c.4068G= (p.Arg1356=) c.3047G= n.3352G= n.4175G= c.4185G= (p.Arg1395=) c.4164G= (p.Arg1388=) c.4146G= (p.Arg1382=) c.4128G= (p.Arg1376=) c.4089G= (p.Arg1363=) c.4050G= (p.Arg1350=) c.3774G= (p.Arg1258=) c.3735G= (p.Arg1245=) c.4125G= (p.Arg1375=) c.4032G= (p.Arg1344=) c.3507G= (p.Arg1169=) c.3822G= (p.Arg1274=) n.8394G= | |
3 | g.9475773G>T | CA351693687 | SETD5 | n.2966G>T c.4107G>T (p.Arg1369Ser) n.5000G>T n.2391G>T n.6253G>T c.4011G>T (p.Arg1337Ser) c.*4157G>T (n.*4157G>T) c.*4080G>T (n.*4080G>T) c.*4385G>T (n.*4385G>T) c.*4116G>T (n.*4116G>T) c.3717G>T (p.Arg1239Ser) c.2722+617G>T c.4068G>T (p.Arg1356Ser) c.3047G>T n.3352G>T n.4175G>T c.4185G>T (p.Arg1395Ser) c.4164G>T (p.Arg1388Ser) c.4146G>T (p.Arg1382Ser) c.4128G>T (p.Arg1376Ser) c.4089G>T (p.Arg1363Ser) c.4050G>T (p.Arg1350Ser) c.3774G>T (p.Arg1258Ser) c.3735G>T (p.Arg1245Ser) c.4125G>T (p.Arg1375Ser) c.4032G>T (p.Arg1344Ser) c.3507G>T (p.Arg1169Ser) c.3822G>T (p.Arg1274Ser) n.8394G>T | |
3 | g.9475774A>C | CA432528502 | SETD5 | n.2967A>C c.4108A>C (p.Arg1370=) n.5001A>C n.2392A>C n.6254A>C c.4012A>C (p.Arg1338=) c.*4158A>C (n.*4158A>C) c.*4081A>C (n.*4081A>C) c.*4386A>C (n.*4386A>C) c.*4117A>C (n.*4117A>C) c.3718A>C (p.Arg1240=) c.2722+618A>C c.4069A>C (p.Arg1357=) c.3048A>C n.3353A>C n.4176A>C c.4186A>C (p.Arg1396=) c.4165A>C (p.Arg1389=) c.4147A>C (p.Arg1383=) c.4129A>C (p.Arg1377=) c.4090A>C (p.Arg1364=) c.4051A>C (p.Arg1351=) c.3775A>C (p.Arg1259=) c.3736A>C (p.Arg1246=) c.4126A>C (p.Arg1376=) c.4033A>C (p.Arg1345=) c.3508A>C (p.Arg1170=) c.3823A>C (p.Arg1275=) n.8395A>C | |
3 | g.9475774A>G | CA351693691 | SETD5 | n.2967A>G c.4108A>G (p.Arg1370Gly) n.5001A>G n.2392A>G n.6254A>G c.4012A>G (p.Arg1338Gly) c.*4158A>G (n.*4158A>G) c.*4081A>G (n.*4081A>G) c.*4386A>G (n.*4386A>G) c.*4117A>G (n.*4117A>G) c.3718A>G (p.Arg1240Gly) c.2722+618A>G c.4069A>G (p.Arg1357Gly) c.3048A>G n.3353A>G n.4176A>G c.4186A>G (p.Arg1396Gly) c.4165A>G (p.Arg1389Gly) c.4147A>G (p.Arg1383Gly) c.4129A>G (p.Arg1377Gly) c.4090A>G (p.Arg1364Gly) c.4051A>G (p.Arg1351Gly) c.3775A>G (p.Arg1259Gly) c.3736A>G (p.Arg1246Gly) c.4126A>G (p.Arg1376Gly) c.4033A>G (p.Arg1345Gly) c.3508A>G (p.Arg1170Gly) c.3823A>G (p.Arg1275Gly) n.8395A>G | |
3 | g.9475774A>T | CA351693694 | SETD5 | n.2967A>T c.4108A>T (p.Arg1370Trp) n.5001A>T n.2392A>T n.6254A>T c.4012A>T (p.Arg1338Trp) c.*4158A>T (n.*4158A>T) c.*4081A>T (n.*4081A>T) c.*4386A>T (n.*4386A>T) c.*4117A>T (n.*4117A>T) c.3718A>T (p.Arg1240Trp) c.2722+618A>T c.4069A>T (p.Arg1357Trp) c.3048A>T n.3353A>T n.4176A>T c.4186A>T (p.Arg1396Trp) c.4165A>T (p.Arg1389Trp) c.4147A>T (p.Arg1383Trp) c.4129A>T (p.Arg1377Trp) c.4090A>T (p.Arg1364Trp) c.4051A>T (p.Arg1351Trp) c.3775A>T (p.Arg1259Trp) c.3736A>T (p.Arg1246Trp) c.4126A>T (p.Arg1376Trp) c.4033A>T (p.Arg1345Trp) c.3508A>T (p.Arg1170Trp) c.3823A>T (p.Arg1275Trp) n.8395A>T | |
3 | g.9475775G>A | CA2239850 | SETD5 | n.2968G>A c.4109G>A (p.Arg1370Lys) n.5002G>A n.2393G>A n.6255G>A c.4013G>A (p.Arg1338Lys) c.*4159G>A (n.*4159G>A) c.*4082G>A (n.*4082G>A) c.*4387G>A (n.*4387G>A) c.*4118G>A (n.*4118G>A) c.3719G>A (p.Arg1240Lys) c.2722+619G>A c.4070G>A (p.Arg1357Lys) c.3049G>A n.3354G>A n.4177G>A c.4187G>A (p.Arg1396Lys) c.4166G>A (p.Arg1389Lys) c.4148G>A (p.Arg1383Lys) c.4130G>A (p.Arg1377Lys) c.4091G>A (p.Arg1364Lys) c.4052G>A (p.Arg1351Lys) c.3776G>A (p.Arg1259Lys) c.3737G>A (p.Arg1246Lys) c.4127G>A (p.Arg1376Lys) c.4034G>A (p.Arg1345Lys) c.3509G>A (p.Arg1170Lys) c.3824G>A (p.Arg1275Lys) n.8396G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475775G>C | CA351693699 | SETD5 | n.2968G>C c.4109G>C (p.Arg1370Thr) n.5002G>C n.2393G>C n.6255G>C c.4013G>C (p.Arg1338Thr) c.*4159G>C (n.*4159G>C) c.*4082G>C (n.*4082G>C) c.*4387G>C (n.*4387G>C) c.*4118G>C (n.*4118G>C) c.3719G>C (p.Arg1240Thr) c.2722+619G>C c.4070G>C (p.Arg1357Thr) c.3049G>C n.3354G>C n.4177G>C c.4187G>C (p.Arg1396Thr) c.4166G>C (p.Arg1389Thr) c.4148G>C (p.Arg1383Thr) c.4130G>C (p.Arg1377Thr) c.4091G>C (p.Arg1364Thr) c.4052G>C (p.Arg1351Thr) c.3776G>C (p.Arg1259Thr) c.3737G>C (p.Arg1246Thr) c.4127G>C (p.Arg1376Thr) c.4034G>C (p.Arg1345Thr) c.3509G>C (p.Arg1170Thr) c.3824G>C (p.Arg1275Thr) n.8396G>C | |
3 | g.9475775G= | CA1344742797 | SETD5 | n.2968G= c.4109G= (p.Arg1370=) n.5002G= n.2393G= n.6255G= c.4013G= (p.Arg1338=) c.*4159G= (n.*4159G=) c.*4082G= (n.*4082G=) c.*4387G= (n.*4387G=) c.*4118G= (n.*4118G=) c.3719G= (p.Arg1240=) c.2722+619G= c.4070G= (p.Arg1357=) c.3049G= n.3354G= n.4177G= c.4187G= (p.Arg1396=) c.4166G= (p.Arg1389=) c.4148G= (p.Arg1383=) c.4130G= (p.Arg1377=) c.4091G= (p.Arg1364=) c.4052G= (p.Arg1351=) c.3776G= (p.Arg1259=) c.3737G= (p.Arg1246=) c.4127G= (p.Arg1376=) c.4034G= (p.Arg1345=) c.3509G= (p.Arg1170=) c.3824G= (p.Arg1275=) n.8396G= | |
3 | g.9475775G>T | CA351693704 | SETD5 | n.2968G>T c.4109G>T (p.Arg1370Met) n.5002G>T n.2393G>T n.6255G>T c.4013G>T (p.Arg1338Met) c.*4159G>T (n.*4159G>T) c.*4082G>T (n.*4082G>T) c.*4387G>T (n.*4387G>T) c.*4118G>T (n.*4118G>T) c.3719G>T (p.Arg1240Met) c.2722+619G>T c.4070G>T (p.Arg1357Met) c.3049G>T n.3354G>T n.4177G>T c.4187G>T (p.Arg1396Met) c.4166G>T (p.Arg1389Met) c.4148G>T (p.Arg1383Met) c.4130G>T (p.Arg1377Met) c.4091G>T (p.Arg1364Met) c.4052G>T (p.Arg1351Met) c.3776G>T (p.Arg1259Met) c.3737G>T (p.Arg1246Met) c.4127G>T (p.Arg1376Met) c.4034G>T (p.Arg1345Met) c.3509G>T (p.Arg1170Met) c.3824G>T (p.Arg1275Met) n.8396G>T | |
3 | g.9475776G>A | CA432528507 | SETD5 | n.2969G>A c.4110G>A (p.Arg1370=) n.5003G>A n.2394G>A n.6256G>A c.4014G>A (p.Arg1338=) c.*4160G>A (n.*4160G>A) c.*4083G>A (n.*4083G>A) c.*4388G>A (n.*4388G>A) c.*4119G>A (n.*4119G>A) c.3720G>A (p.Arg1240=) c.2722+620G>A c.4071G>A (p.Arg1357=) c.3050G>A n.3355G>A n.4178G>A c.4188G>A (p.Arg1396=) c.4167G>A (p.Arg1389=) c.4149G>A (p.Arg1383=) c.4131G>A (p.Arg1377=) c.4092G>A (p.Arg1364=) c.4053G>A (p.Arg1351=) c.3777G>A (p.Arg1259=) c.3738G>A (p.Arg1246=) c.4128G>A (p.Arg1376=) c.4035G>A (p.Arg1345=) c.3510G>A (p.Arg1170=) c.3825G>A (p.Arg1275=) n.8397G>A | |
3 | g.9475776G>C | CA351693707 | SETD5 | n.2969G>C c.4110G>C (p.Arg1370Ser) n.5003G>C n.2394G>C n.6256G>C c.4014G>C (p.Arg1338Ser) c.*4160G>C (n.*4160G>C) c.*4083G>C (n.*4083G>C) c.*4388G>C (n.*4388G>C) c.*4119G>C (n.*4119G>C) c.3720G>C (p.Arg1240Ser) c.2722+620G>C c.4071G>C (p.Arg1357Ser) c.3050G>C n.3355G>C n.4178G>C c.4188G>C (p.Arg1396Ser) c.4167G>C (p.Arg1389Ser) c.4149G>C (p.Arg1383Ser) c.4131G>C (p.Arg1377Ser) c.4092G>C (p.Arg1364Ser) c.4053G>C (p.Arg1351Ser) c.3777G>C (p.Arg1259Ser) c.3738G>C (p.Arg1246Ser) c.4128G>C (p.Arg1376Ser) c.4035G>C (p.Arg1345Ser) c.3510G>C (p.Arg1170Ser) c.3825G>C (p.Arg1275Ser) n.8397G>C | ClinVar dbSNP |
3 | g.9475776G>T | CA351693710 | SETD5 | n.2969G>T c.4110G>T (p.Arg1370Ser) n.5003G>T n.2394G>T n.6256G>T c.4014G>T (p.Arg1338Ser) c.*4160G>T (n.*4160G>T) c.*4083G>T (n.*4083G>T) c.*4388G>T (n.*4388G>T) c.*4119G>T (n.*4119G>T) c.3720G>T (p.Arg1240Ser) c.2722+620G>T c.4071G>T (p.Arg1357Ser) c.3050G>T n.3355G>T n.4178G>T c.4188G>T (p.Arg1396Ser) c.4167G>T (p.Arg1389Ser) c.4149G>T (p.Arg1383Ser) c.4131G>T (p.Arg1377Ser) c.4092G>T (p.Arg1364Ser) c.4053G>T (p.Arg1351Ser) c.3777G>T (p.Arg1259Ser) c.3738G>T (p.Arg1246Ser) c.4128G>T (p.Arg1376Ser) c.4035G>T (p.Arg1345Ser) c.3510G>T (p.Arg1170Ser) c.3825G>T (p.Arg1275Ser) n.8397G>T | |
3 | g.9475777A>C | CA351693716 | SETD5 | n.2970A>C c.4111A>C (p.Ser1371Arg) n.5004A>C n.2395A>C n.6257A>C c.4015A>C (p.Ser1339Arg) c.*4161A>C (n.*4161A>C) c.*4084A>C (n.*4084A>C) c.*4389A>C (n.*4389A>C) c.*4120A>C (n.*4120A>C) c.3721A>C (p.Ser1241Arg) c.2722+621A>C c.4072A>C (p.Ser1358Arg) c.3051A>C n.3356A>C n.4179A>C c.4189A>C (p.Ser1397Arg) c.4168A>C (p.Ser1390Arg) c.4150A>C (p.Ser1384Arg) c.4132A>C (p.Ser1378Arg) c.4093A>C (p.Ser1365Arg) c.4054A>C (p.Ser1352Arg) c.3778A>C (p.Ser1260Arg) c.3739A>C (p.Ser1247Arg) c.4129A>C (p.Ser1377Arg) c.4036A>C (p.Ser1346Arg) c.3511A>C (p.Ser1171Arg) c.3826A>C (p.Ser1276Arg) n.8398A>C | |
3 | g.9475777A>G | CA351693718 | SETD5 | n.2970A>G c.4111A>G (p.Ser1371Gly) n.5004A>G n.2395A>G n.6257A>G c.4015A>G (p.Ser1339Gly) c.*4161A>G (n.*4161A>G) c.*4084A>G (n.*4084A>G) c.*4389A>G (n.*4389A>G) c.*4120A>G (n.*4120A>G) c.3721A>G (p.Ser1241Gly) c.2722+621A>G c.4072A>G (p.Ser1358Gly) c.3051A>G n.3356A>G n.4179A>G c.4189A>G (p.Ser1397Gly) c.4168A>G (p.Ser1390Gly) c.4150A>G (p.Ser1384Gly) c.4132A>G (p.Ser1378Gly) c.4093A>G (p.Ser1365Gly) c.4054A>G (p.Ser1352Gly) c.3778A>G (p.Ser1260Gly) c.3739A>G (p.Ser1247Gly) c.4129A>G (p.Ser1377Gly) c.4036A>G (p.Ser1346Gly) c.3511A>G (p.Ser1171Gly) c.3826A>G (p.Ser1276Gly) n.8398A>G | ClinVar |
3 | g.9475777A>T | CA351693720 | SETD5 | n.2970A>T c.4111A>T (p.Ser1371Cys) n.5004A>T n.2395A>T n.6257A>T c.4015A>T (p.Ser1339Cys) c.*4161A>T (n.*4161A>T) c.*4084A>T (n.*4084A>T) c.*4389A>T (n.*4389A>T) c.*4120A>T (n.*4120A>T) c.3721A>T (p.Ser1241Cys) c.2722+621A>T c.4072A>T (p.Ser1358Cys) c.3051A>T n.3356A>T n.4179A>T c.4189A>T (p.Ser1397Cys) c.4168A>T (p.Ser1390Cys) c.4150A>T (p.Ser1384Cys) c.4132A>T (p.Ser1378Cys) c.4093A>T (p.Ser1365Cys) c.4054A>T (p.Ser1352Cys) c.3778A>T (p.Ser1260Cys) c.3739A>T (p.Ser1247Cys) c.4129A>T (p.Ser1377Cys) c.4036A>T (p.Ser1346Cys) c.3511A>T (p.Ser1171Cys) c.3826A>T (p.Ser1276Cys) n.8398A>T | |
3 | g.9475778G>A | CA351693738 | SETD5 | n.2971G>A c.4112G>A (p.Ser1371Asn) n.5005G>A n.2396G>A n.6258G>A c.4016G>A (p.Ser1339Asn) c.*4162G>A (n.*4162G>A) c.*4085G>A (n.*4085G>A) c.*4390G>A (n.*4390G>A) c.*4121G>A (n.*4121G>A) c.3722G>A (p.Ser1241Asn) c.2722+622G>A c.4073G>A (p.Ser1358Asn) c.3052G>A n.3357G>A n.4180G>A c.4190G>A (p.Ser1397Asn) c.4169G>A (p.Ser1390Asn) c.4151G>A (p.Ser1384Asn) c.4133G>A (p.Ser1378Asn) c.4094G>A (p.Ser1365Asn) c.4055G>A (p.Ser1352Asn) c.3779G>A (p.Ser1260Asn) c.3740G>A (p.Ser1247Asn) c.4130G>A (p.Ser1377Asn) c.4037G>A (p.Ser1346Asn) c.3512G>A (p.Ser1171Asn) c.3827G>A (p.Ser1276Asn) n.8399G>A | gnomAD v4 |
3 | g.9475778G>C | CA351693740 | SETD5 | n.2971G>C c.4112G>C (p.Ser1371Thr) n.5005G>C n.2396G>C n.6258G>C c.4016G>C (p.Ser1339Thr) c.*4162G>C (n.*4162G>C) c.*4085G>C (n.*4085G>C) c.*4390G>C (n.*4390G>C) c.*4121G>C (n.*4121G>C) c.3722G>C (p.Ser1241Thr) c.2722+622G>C c.4073G>C (p.Ser1358Thr) c.3052G>C n.3357G>C n.4180G>C c.4190G>C (p.Ser1397Thr) c.4169G>C (p.Ser1390Thr) c.4151G>C (p.Ser1384Thr) c.4133G>C (p.Ser1378Thr) c.4094G>C (p.Ser1365Thr) c.4055G>C (p.Ser1352Thr) c.3779G>C (p.Ser1260Thr) c.3740G>C (p.Ser1247Thr) c.4130G>C (p.Ser1377Thr) c.4037G>C (p.Ser1346Thr) c.3512G>C (p.Ser1171Thr) c.3827G>C (p.Ser1276Thr) n.8399G>C | |
3 | g.9475778G>T | CA351693736 | SETD5 | n.2971G>T c.4112G>T (p.Ser1371Ile) n.5005G>T n.2396G>T n.6258G>T c.4016G>T (p.Ser1339Ile) c.*4162G>T (n.*4162G>T) c.*4085G>T (n.*4085G>T) c.*4390G>T (n.*4390G>T) c.*4121G>T (n.*4121G>T) c.3722G>T (p.Ser1241Ile) c.2722+622G>T c.4073G>T (p.Ser1358Ile) c.3052G>T n.3357G>T n.4180G>T c.4190G>T (p.Ser1397Ile) c.4169G>T (p.Ser1390Ile) c.4151G>T (p.Ser1384Ile) c.4133G>T (p.Ser1378Ile) c.4094G>T (p.Ser1365Ile) c.4055G>T (p.Ser1352Ile) c.3779G>T (p.Ser1260Ile) c.3740G>T (p.Ser1247Ile) c.4130G>T (p.Ser1377Ile) c.4037G>T (p.Ser1346Ile) c.3512G>T (p.Ser1171Ile) c.3827G>T (p.Ser1276Ile) n.8399G>T | |
3 | g.9475779C>A | CA351693744 | SETD5 | n.2972C>A c.4113C>A (p.Ser1371Arg) n.5006C>A n.2397C>A n.6259C>A c.4017C>A (p.Ser1339Arg) c.*4163C>A (n.*4163C>A) c.*4086C>A (n.*4086C>A) c.*4391C>A (n.*4391C>A) c.*4122C>A (n.*4122C>A) c.3723C>A (p.Ser1241Arg) c.2722+623C>A c.4074C>A (p.Ser1358Arg) c.3053C>A n.3358C>A n.4181C>A c.4191C>A (p.Ser1397Arg) c.4170C>A (p.Ser1390Arg) c.4152C>A (p.Ser1384Arg) c.4134C>A (p.Ser1378Arg) c.4095C>A (p.Ser1365Arg) c.4056C>A (p.Ser1352Arg) c.3780C>A (p.Ser1260Arg) c.3741C>A (p.Ser1247Arg) c.4131C>A (p.Ser1377Arg) c.4038C>A (p.Ser1346Arg) c.3513C>A (p.Ser1171Arg) c.3828C>A (p.Ser1276Arg) n.8400C>A | |
3 | g.9475779C>G | CA351693746 | SETD5 | n.2972C>G c.4113C>G (p.Ser1371Arg) n.5006C>G n.2397C>G n.6259C>G c.4017C>G (p.Ser1339Arg) c.*4163C>G (n.*4163C>G) c.*4086C>G (n.*4086C>G) c.*4391C>G (n.*4391C>G) c.*4122C>G (n.*4122C>G) c.3723C>G (p.Ser1241Arg) c.2722+623C>G c.4074C>G (p.Ser1358Arg) c.3053C>G n.3358C>G n.4181C>G c.4191C>G (p.Ser1397Arg) c.4170C>G (p.Ser1390Arg) c.4152C>G (p.Ser1384Arg) c.4134C>G (p.Ser1378Arg) c.4095C>G (p.Ser1365Arg) c.4056C>G (p.Ser1352Arg) c.3780C>G (p.Ser1260Arg) c.3741C>G (p.Ser1247Arg) c.4131C>G (p.Ser1377Arg) c.4038C>G (p.Ser1346Arg) c.3513C>G (p.Ser1171Arg) c.3828C>G (p.Ser1276Arg) n.8400C>G | |
3 | g.9475779C>T | CA432528514 | SETD5 | n.2972C>T c.4113C>T (p.Ser1371=) n.5006C>T n.2397C>T n.6259C>T c.4017C>T (p.Ser1339=) c.*4163C>T (n.*4163C>T) c.*4086C>T (n.*4086C>T) c.*4391C>T (n.*4391C>T) c.*4122C>T (n.*4122C>T) c.3723C>T (p.Ser1241=) c.2722+623C>T c.4074C>T (p.Ser1358=) c.3053C>T n.3358C>T n.4181C>T c.4191C>T (p.Ser1397=) c.4170C>T (p.Ser1390=) c.4152C>T (p.Ser1384=) c.4134C>T (p.Ser1378=) c.4095C>T (p.Ser1365=) c.4056C>T (p.Ser1352=) c.3780C>T (p.Ser1260=) c.3741C>T (p.Ser1247=) c.4131C>T (p.Ser1377=) c.4038C>T (p.Ser1346=) c.3513C>T (p.Ser1171=) c.3828C>T (p.Ser1276=) n.8400C>T | dbSNP |
3 | g.9475780T>A | CA351693750 | SETD5 | n.2973T>A c.4114T>A (p.Cys1372Ser) n.5007T>A n.2398T>A n.6260T>A c.4018T>A (p.Cys1340Ser) c.*4164T>A (n.*4164T>A) c.*4087T>A (n.*4087T>A) c.*4392T>A (n.*4392T>A) c.*4123T>A (n.*4123T>A) c.3724T>A (p.Cys1242Ser) c.2722+624T>A c.4075T>A (p.Cys1359Ser) c.3054T>A n.3359T>A n.4182T>A c.4192T>A (p.Cys1398Ser) c.4171T>A (p.Cys1391Ser) c.4153T>A (p.Cys1385Ser) c.4135T>A (p.Cys1379Ser) c.4096T>A (p.Cys1366Ser) c.4057T>A (p.Cys1353Ser) c.3781T>A (p.Cys1261Ser) c.3742T>A (p.Cys1248Ser) c.4132T>A (p.Cys1378Ser) c.4039T>A (p.Cys1347Ser) c.3514T>A (p.Cys1172Ser) c.3829T>A (p.Cys1277Ser) n.8401T>A | |
3 | g.9475780T>C | CA351693753 | SETD5 | n.2973T>C c.4114T>C (p.Cys1372Arg) n.5007T>C n.2398T>C n.6260T>C c.4018T>C (p.Cys1340Arg) c.*4164T>C (n.*4164T>C) c.*4087T>C (n.*4087T>C) c.*4392T>C (n.*4392T>C) c.*4123T>C (n.*4123T>C) c.3724T>C (p.Cys1242Arg) c.2722+624T>C c.4075T>C (p.Cys1359Arg) c.3054T>C n.3359T>C n.4182T>C c.4192T>C (p.Cys1398Arg) c.4171T>C (p.Cys1391Arg) c.4153T>C (p.Cys1385Arg) c.4135T>C (p.Cys1379Arg) c.4096T>C (p.Cys1366Arg) c.4057T>C (p.Cys1353Arg) c.3781T>C (p.Cys1261Arg) c.3742T>C (p.Cys1248Arg) c.4132T>C (p.Cys1378Arg) c.4039T>C (p.Cys1347Arg) c.3514T>C (p.Cys1172Arg) c.3829T>C (p.Cys1277Arg) n.8401T>C | gnomAD v4 |
3 | g.9475780T>G | CA351693757 | SETD5 | n.2973T>G c.4114T>G (p.Cys1372Gly) n.5007T>G n.2398T>G n.6260T>G c.4018T>G (p.Cys1340Gly) c.*4164T>G (n.*4164T>G) c.*4087T>G (n.*4087T>G) c.*4392T>G (n.*4392T>G) c.*4123T>G (n.*4123T>G) c.3724T>G (p.Cys1242Gly) c.2722+624T>G c.4075T>G (p.Cys1359Gly) c.3054T>G n.3359T>G n.4182T>G c.4192T>G (p.Cys1398Gly) c.4171T>G (p.Cys1391Gly) c.4153T>G (p.Cys1385Gly) c.4135T>G (p.Cys1379Gly) c.4096T>G (p.Cys1366Gly) c.4057T>G (p.Cys1353Gly) c.3781T>G (p.Cys1261Gly) c.3742T>G (p.Cys1248Gly) c.4132T>G (p.Cys1378Gly) c.4039T>G (p.Cys1347Gly) c.3514T>G (p.Cys1172Gly) c.3829T>G (p.Cys1277Gly) n.8401T>G | |
3 | g.9475781G>A | CA351693764 | SETD5 | n.2974G>A c.4115G>A (p.Cys1372Tyr) n.5008G>A n.2399G>A n.6261G>A c.4019G>A (p.Cys1340Tyr) c.*4165G>A (n.*4165G>A) c.*4088G>A (n.*4088G>A) c.*4393G>A (n.*4393G>A) c.*4124G>A (n.*4124G>A) c.3725G>A (p.Cys1242Tyr) c.2722+625G>A c.4076G>A (p.Cys1359Tyr) c.3055G>A n.3360G>A n.4183G>A c.4193G>A (p.Cys1398Tyr) c.4172G>A (p.Cys1391Tyr) c.4154G>A (p.Cys1385Tyr) c.4136G>A (p.Cys1379Tyr) c.4097G>A (p.Cys1366Tyr) c.4058G>A (p.Cys1353Tyr) c.3782G>A (p.Cys1261Tyr) c.3743G>A (p.Cys1248Tyr) c.4133G>A (p.Cys1378Tyr) c.4040G>A (p.Cys1347Tyr) c.3515G>A (p.Cys1172Tyr) c.3830G>A (p.Cys1277Tyr) n.8402G>A | gnomAD v4 |
3 | g.9475781G>C | CA351693760 | SETD5 | n.2974G>C c.4115G>C (p.Cys1372Ser) n.5008G>C n.2399G>C n.6261G>C c.4019G>C (p.Cys1340Ser) c.*4165G>C (n.*4165G>C) c.*4088G>C (n.*4088G>C) c.*4393G>C (n.*4393G>C) c.*4124G>C (n.*4124G>C) c.3725G>C (p.Cys1242Ser) c.2722+625G>C c.4076G>C (p.Cys1359Ser) c.3055G>C n.3360G>C n.4183G>C c.4193G>C (p.Cys1398Ser) c.4172G>C (p.Cys1391Ser) c.4154G>C (p.Cys1385Ser) c.4136G>C (p.Cys1379Ser) c.4097G>C (p.Cys1366Ser) c.4058G>C (p.Cys1353Ser) c.3782G>C (p.Cys1261Ser) c.3743G>C (p.Cys1248Ser) c.4133G>C (p.Cys1378Ser) c.4040G>C (p.Cys1347Ser) c.3515G>C (p.Cys1172Ser) c.3830G>C (p.Cys1277Ser) n.8402G>C | |
3 | g.9475781G>T | CA351693762 | SETD5 | n.2974G>T c.4115G>T (p.Cys1372Phe) n.5008G>T n.2399G>T n.6261G>T c.4019G>T (p.Cys1340Phe) c.*4165G>T (n.*4165G>T) c.*4088G>T (n.*4088G>T) c.*4393G>T (n.*4393G>T) c.*4124G>T (n.*4124G>T) c.3725G>T (p.Cys1242Phe) c.2722+625G>T c.4076G>T (p.Cys1359Phe) c.3055G>T n.3360G>T n.4183G>T c.4193G>T (p.Cys1398Phe) c.4172G>T (p.Cys1391Phe) c.4154G>T (p.Cys1385Phe) c.4136G>T (p.Cys1379Phe) c.4097G>T (p.Cys1366Phe) c.4058G>T (p.Cys1353Phe) c.3782G>T (p.Cys1261Phe) c.3743G>T (p.Cys1248Phe) c.4133G>T (p.Cys1378Phe) c.4040G>T (p.Cys1347Phe) c.3515G>T (p.Cys1172Phe) c.3830G>T (p.Cys1277Phe) n.8402G>T | |
3 | g.9475782C>A | CA351693767 | SETD5 | n.2975C>A c.4116C>A (p.Cys1372Ter) n.5009C>A n.2400C>A n.6262C>A c.4020C>A (p.Cys1340Ter) c.*4166C>A (n.*4166C>A) c.*4089C>A (n.*4089C>A) c.*4394C>A (n.*4394C>A) c.*4125C>A (n.*4125C>A) c.3726C>A (p.Cys1242Ter) c.2722+626C>A c.4077C>A (p.Cys1359Ter) c.3056C>A n.3361C>A n.4184C>A c.4194C>A (p.Cys1398Ter) c.4173C>A (p.Cys1391Ter) c.4155C>A (p.Cys1385Ter) c.4137C>A (p.Cys1379Ter) c.4098C>A (p.Cys1366Ter) c.4059C>A (p.Cys1353Ter) c.3783C>A (p.Cys1261Ter) c.3744C>A (p.Cys1248Ter) c.4134C>A (p.Cys1378Ter) c.4041C>A (p.Cys1347Ter) c.3516C>A (p.Cys1172Ter) c.3831C>A (p.Cys1277Ter) n.8403C>A | |
3 | g.9475782C>G | CA351693770 | SETD5 | n.2975C>G c.4116C>G (p.Cys1372Trp) n.5009C>G n.2400C>G n.6262C>G c.4020C>G (p.Cys1340Trp) c.*4166C>G (n.*4166C>G) c.*4089C>G (n.*4089C>G) c.*4394C>G (n.*4394C>G) c.*4125C>G (n.*4125C>G) c.3726C>G (p.Cys1242Trp) c.2722+626C>G c.4077C>G (p.Cys1359Trp) c.3056C>G n.3361C>G n.4184C>G c.4194C>G (p.Cys1398Trp) c.4173C>G (p.Cys1391Trp) c.4155C>G (p.Cys1385Trp) c.4137C>G (p.Cys1379Trp) c.4098C>G (p.Cys1366Trp) c.4059C>G (p.Cys1353Trp) c.3783C>G (p.Cys1261Trp) c.3744C>G (p.Cys1248Trp) c.4134C>G (p.Cys1378Trp) c.4041C>G (p.Cys1347Trp) c.3516C>G (p.Cys1172Trp) c.3831C>G (p.Cys1277Trp) n.8403C>G | |
3 | g.9475782C>T | CA432528519 | SETD5 | n.2975C>T c.4116C>T (p.Cys1372=) n.5009C>T n.2400C>T n.6262C>T c.4020C>T (p.Cys1340=) c.*4166C>T (n.*4166C>T) c.*4089C>T (n.*4089C>T) c.*4394C>T (n.*4394C>T) c.*4125C>T (n.*4125C>T) c.3726C>T (p.Cys1242=) c.2722+626C>T c.4077C>T (p.Cys1359=) c.3056C>T n.3361C>T n.4184C>T c.4194C>T (p.Cys1398=) c.4173C>T (p.Cys1391=) c.4155C>T (p.Cys1385=) c.4137C>T (p.Cys1379=) c.4098C>T (p.Cys1366=) c.4059C>T (p.Cys1353=) c.3783C>T (p.Cys1261=) c.3744C>T (p.Cys1248=) c.4134C>T (p.Cys1378=) c.4041C>T (p.Cys1347=) c.3516C>T (p.Cys1172=) c.3831C>T (p.Cys1277=) n.8403C>T | |
3 | g.9475783C>A | CA351693775 | SETD5 | n.2976C>A c.4117C>A (p.Pro1373Thr) n.5010C>A n.2401C>A n.6263C>A c.4021C>A (p.Pro1341Thr) c.*4167C>A (n.*4167C>A) c.*4090C>A (n.*4090C>A) c.*4395C>A (n.*4395C>A) c.*4126C>A (n.*4126C>A) c.3727C>A (p.Pro1243Thr) c.2722+627C>A c.4078C>A (p.Pro1360Thr) c.3057C>A n.3362C>A n.4185C>A c.4195C>A (p.Pro1399Thr) c.4174C>A (p.Pro1392Thr) c.4156C>A (p.Pro1386Thr) c.4138C>A (p.Pro1380Thr) c.4099C>A (p.Pro1367Thr) c.4060C>A (p.Pro1354Thr) c.3784C>A (p.Pro1262Thr) c.3745C>A (p.Pro1249Thr) c.4135C>A (p.Pro1379Thr) c.4042C>A (p.Pro1348Thr) c.3517C>A (p.Pro1173Thr) c.3832C>A (p.Pro1278Thr) n.8404C>A | |
3 | g.9475783C>G | CA351693777 | SETD5 | n.2976C>G c.4117C>G (p.Pro1373Ala) n.5010C>G n.2401C>G n.6263C>G c.4021C>G (p.Pro1341Ala) c.*4167C>G (n.*4167C>G) c.*4090C>G (n.*4090C>G) c.*4395C>G (n.*4395C>G) c.*4126C>G (n.*4126C>G) c.3727C>G (p.Pro1243Ala) c.2722+627C>G c.4078C>G (p.Pro1360Ala) c.3057C>G n.3362C>G n.4185C>G c.4195C>G (p.Pro1399Ala) c.4174C>G (p.Pro1392Ala) c.4156C>G (p.Pro1386Ala) c.4138C>G (p.Pro1380Ala) c.4099C>G (p.Pro1367Ala) c.4060C>G (p.Pro1354Ala) c.3784C>G (p.Pro1262Ala) c.3745C>G (p.Pro1249Ala) c.4135C>G (p.Pro1379Ala) c.4042C>G (p.Pro1348Ala) c.3517C>G (p.Pro1173Ala) c.3832C>G (p.Pro1278Ala) n.8404C>G | gnomAD v4 |
3 | g.9475783C>T | CA351693780 | SETD5 | n.2976C>T c.4117C>T (p.Pro1373Ser) n.5010C>T n.2401C>T n.6263C>T c.4021C>T (p.Pro1341Ser) c.*4167C>T (n.*4167C>T) c.*4090C>T (n.*4090C>T) c.*4395C>T (n.*4395C>T) c.*4126C>T (n.*4126C>T) c.3727C>T (p.Pro1243Ser) c.2722+627C>T c.4078C>T (p.Pro1360Ser) c.3057C>T n.3362C>T n.4185C>T c.4195C>T (p.Pro1399Ser) c.4174C>T (p.Pro1392Ser) c.4156C>T (p.Pro1386Ser) c.4138C>T (p.Pro1380Ser) c.4099C>T (p.Pro1367Ser) c.4060C>T (p.Pro1354Ser) c.3784C>T (p.Pro1262Ser) c.3745C>T (p.Pro1249Ser) c.4135C>T (p.Pro1379Ser) c.4042C>T (p.Pro1348Ser) c.3517C>T (p.Pro1173Ser) c.3832C>T (p.Pro1278Ser) n.8404C>T | gnomAD v4 |
3 | g.9475784C>A | CA351693785 | SETD5 | n.2977C>A c.4118C>A (p.Pro1373His) n.5011C>A n.2402C>A n.6264C>A c.4022C>A (p.Pro1341His) c.*4168C>A (n.*4168C>A) c.*4091C>A (n.*4091C>A) c.*4396C>A (n.*4396C>A) c.*4127C>A (n.*4127C>A) c.3728C>A (p.Pro1243His) c.2722+628C>A c.4079C>A (p.Pro1360His) c.3058C>A n.3363C>A n.4186C>A c.4196C>A (p.Pro1399His) c.4175C>A (p.Pro1392His) c.4157C>A (p.Pro1386His) c.4139C>A (p.Pro1380His) c.4100C>A (p.Pro1367His) c.4061C>A (p.Pro1354His) c.3785C>A (p.Pro1262His) c.3746C>A (p.Pro1249His) c.4136C>A (p.Pro1379His) c.4043C>A (p.Pro1348His) c.3518C>A (p.Pro1173His) c.3833C>A (p.Pro1278His) n.8405C>A | gnomAD v4 |
3 | g.9475784C= | CA1344742798 | SETD5 | n.2977C= c.4118C= (p.Pro1373=) n.5011C= n.2402C= n.6264C= c.4022C= (p.Pro1341=) c.*4168C= (n.*4168C=) c.*4091C= (n.*4091C=) c.*4396C= (n.*4396C=) c.*4127C= (n.*4127C=) c.3728C= (p.Pro1243=) c.2722+628C= c.4079C= (p.Pro1360=) c.3058C= n.3363C= n.4186C= c.4196C= (p.Pro1399=) c.4175C= (p.Pro1392=) c.4157C= (p.Pro1386=) c.4139C= (p.Pro1380=) c.4100C= (p.Pro1367=) c.4061C= (p.Pro1354=) c.3785C= (p.Pro1262=) c.3746C= (p.Pro1249=) c.4136C= (p.Pro1379=) c.4043C= (p.Pro1348=) c.3518C= (p.Pro1173=) c.3833C= (p.Pro1278=) n.8405C= | |
3 | g.9475784C>G | CA351693791 | SETD5 | n.2977C>G c.4118C>G (p.Pro1373Arg) n.5011C>G n.2402C>G n.6264C>G c.4022C>G (p.Pro1341Arg) c.*4168C>G (n.*4168C>G) c.*4091C>G (n.*4091C>G) c.*4396C>G (n.*4396C>G) c.*4127C>G (n.*4127C>G) c.3728C>G (p.Pro1243Arg) c.2722+628C>G c.4079C>G (p.Pro1360Arg) c.3058C>G n.3363C>G n.4186C>G c.4196C>G (p.Pro1399Arg) c.4175C>G (p.Pro1392Arg) c.4157C>G (p.Pro1386Arg) c.4139C>G (p.Pro1380Arg) c.4100C>G (p.Pro1367Arg) c.4061C>G (p.Pro1354Arg) c.3785C>G (p.Pro1262Arg) c.3746C>G (p.Pro1249Arg) c.4136C>G (p.Pro1379Arg) c.4043C>G (p.Pro1348Arg) c.3518C>G (p.Pro1173Arg) c.3833C>G (p.Pro1278Arg) n.8405C>G | |
3 | g.9475784C>T | CA351693788 | SETD5 | n.2977C>T c.4118C>T (p.Pro1373Leu) n.5011C>T n.2402C>T n.6264C>T c.4022C>T (p.Pro1341Leu) c.*4168C>T (n.*4168C>T) c.*4091C>T (n.*4091C>T) c.*4396C>T (n.*4396C>T) c.*4127C>T (n.*4127C>T) c.3728C>T (p.Pro1243Leu) c.2722+628C>T c.4079C>T (p.Pro1360Leu) c.3058C>T n.3363C>T n.4186C>T c.4196C>T (p.Pro1399Leu) c.4175C>T (p.Pro1392Leu) c.4157C>T (p.Pro1386Leu) c.4139C>T (p.Pro1380Leu) c.4100C>T (p.Pro1367Leu) c.4061C>T (p.Pro1354Leu) c.3785C>T (p.Pro1262Leu) c.3746C>T (p.Pro1249Leu) c.4136C>T (p.Pro1379Leu) c.4043C>T (p.Pro1348Leu) c.3518C>T (p.Pro1173Leu) c.3833C>T (p.Pro1278Leu) n.8405C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.9475785T>A | CA432528526 | SETD5 | n.2978T>A c.4119T>A (p.Pro1373=) n.5012T>A n.2403T>A n.6265T>A c.4023T>A (p.Pro1341=) c.*4169T>A (n.*4169T>A) c.*4092T>A (n.*4092T>A) c.*4397T>A (n.*4397T>A) c.*4128T>A (n.*4128T>A) c.3729T>A (p.Pro1243=) c.2722+629T>A c.4080T>A (p.Pro1360=) c.3059T>A n.3364T>A n.4187T>A c.4197T>A (p.Pro1399=) c.4176T>A (p.Pro1392=) c.4158T>A (p.Pro1386=) c.4140T>A (p.Pro1380=) c.4101T>A (p.Pro1367=) c.4062T>A (p.Pro1354=) c.3786T>A (p.Pro1262=) c.3747T>A (p.Pro1249=) c.4137T>A (p.Pro1379=) c.4044T>A (p.Pro1348=) c.3519T>A (p.Pro1173=) c.3834T>A (p.Pro1278=) n.8406T>A | |
3 | g.9475785T>C | CA432528528 | SETD5 | n.2978T>C c.4119T>C (p.Pro1373=) n.5012T>C n.2403T>C n.6265T>C c.4023T>C (p.Pro1341=) c.*4169T>C (n.*4169T>C) c.*4092T>C (n.*4092T>C) c.*4397T>C (n.*4397T>C) c.*4128T>C (n.*4128T>C) c.3729T>C (p.Pro1243=) c.2722+629T>C c.4080T>C (p.Pro1360=) c.3059T>C n.3364T>C n.4187T>C c.4197T>C (p.Pro1399=) c.4176T>C (p.Pro1392=) c.4158T>C (p.Pro1386=) c.4140T>C (p.Pro1380=) c.4101T>C (p.Pro1367=) c.4062T>C (p.Pro1354=) c.3786T>C (p.Pro1262=) c.3747T>C (p.Pro1249=) c.4137T>C (p.Pro1379=) c.4044T>C (p.Pro1348=) c.3519T>C (p.Pro1173=) c.3834T>C (p.Pro1278=) n.8406T>C | |
3 | g.9475785T>G | CA432528529 | SETD5 | n.2978T>G c.4119T>G (p.Pro1373=) n.5012T>G n.2403T>G n.6265T>G c.4023T>G (p.Pro1341=) c.*4169T>G (n.*4169T>G) c.*4092T>G (n.*4092T>G) c.*4397T>G (n.*4397T>G) c.*4128T>G (n.*4128T>G) c.3729T>G (p.Pro1243=) c.2722+629T>G c.4080T>G (p.Pro1360=) c.3059T>G n.3364T>G n.4187T>G c.4197T>G (p.Pro1399=) c.4176T>G (p.Pro1392=) c.4158T>G (p.Pro1386=) c.4140T>G (p.Pro1380=) c.4101T>G (p.Pro1367=) c.4062T>G (p.Pro1354=) c.3786T>G (p.Pro1262=) c.3747T>G (p.Pro1249=) c.4137T>G (p.Pro1379=) c.4044T>G (p.Pro1348=) c.3519T>G (p.Pro1173=) c.3834T>G (p.Pro1278=) n.8406T>G | |
3 | g.9475786T>A | CA351693795 | SETD5 | n.2979T>A c.4120T>A (p.Ser1374Thr) n.5013T>A n.2404T>A n.6266T>A c.4024T>A (p.Ser1342Thr) c.*4170T>A (n.*4170T>A) c.*4093T>A (n.*4093T>A) c.*4398T>A (n.*4398T>A) c.*4129T>A (n.*4129T>A) c.3730T>A (p.Ser1244Thr) c.2722+630T>A c.4081T>A (p.Ser1361Thr) c.3060T>A n.3365T>A n.4188T>A c.4198T>A (p.Ser1400Thr) c.4177T>A (p.Ser1393Thr) c.4159T>A (p.Ser1387Thr) c.4141T>A (p.Ser1381Thr) c.4102T>A (p.Ser1368Thr) c.4063T>A (p.Ser1355Thr) c.3787T>A (p.Ser1263Thr) c.3748T>A (p.Ser1250Thr) c.4138T>A (p.Ser1380Thr) c.4045T>A (p.Ser1349Thr) c.3520T>A (p.Ser1174Thr) c.3835T>A (p.Ser1279Thr) n.8407T>A | |
3 | g.9475786T>C | CA351693797 | SETD5 | n.2979T>C c.4120T>C (p.Ser1374Pro) n.5013T>C n.2404T>C n.6266T>C c.4024T>C (p.Ser1342Pro) c.*4170T>C (n.*4170T>C) c.*4093T>C (n.*4093T>C) c.*4398T>C (n.*4398T>C) c.*4129T>C (n.*4129T>C) c.3730T>C (p.Ser1244Pro) c.2722+630T>C c.4081T>C (p.Ser1361Pro) c.3060T>C n.3365T>C n.4188T>C c.4198T>C (p.Ser1400Pro) c.4177T>C (p.Ser1393Pro) c.4159T>C (p.Ser1387Pro) c.4141T>C (p.Ser1381Pro) c.4102T>C (p.Ser1368Pro) c.4063T>C (p.Ser1355Pro) c.3787T>C (p.Ser1263Pro) c.3748T>C (p.Ser1250Pro) c.4138T>C (p.Ser1380Pro) c.4045T>C (p.Ser1349Pro) c.3520T>C (p.Ser1174Pro) c.3835T>C (p.Ser1279Pro) n.8407T>C | |
3 | g.9475786T>G | CA351693800 | SETD5 | n.2979T>G c.4120T>G (p.Ser1374Ala) n.5013T>G n.2404T>G n.6266T>G c.4024T>G (p.Ser1342Ala) c.*4170T>G (n.*4170T>G) c.*4093T>G (n.*4093T>G) c.*4398T>G (n.*4398T>G) c.*4129T>G (n.*4129T>G) c.3730T>G (p.Ser1244Ala) c.2722+630T>G c.4081T>G (p.Ser1361Ala) c.3060T>G n.3365T>G n.4188T>G c.4198T>G (p.Ser1400Ala) c.4177T>G (p.Ser1393Ala) c.4159T>G (p.Ser1387Ala) c.4141T>G (p.Ser1381Ala) c.4102T>G (p.Ser1368Ala) c.4063T>G (p.Ser1355Ala) c.3787T>G (p.Ser1263Ala) c.3748T>G (p.Ser1250Ala) c.4138T>G (p.Ser1380Ala) c.4045T>G (p.Ser1349Ala) c.3520T>G (p.Ser1174Ala) c.3835T>G (p.Ser1279Ala) n.8407T>G | |
3 | g.9475787C>A | CA351693804 | SETD5 | n.2980C>A c.4121C>A (p.Ser1374Tyr) n.5014C>A n.2405C>A n.6267C>A c.4025C>A (p.Ser1342Tyr) c.*4171C>A (n.*4171C>A) c.*4094C>A (n.*4094C>A) c.*4399C>A (n.*4399C>A) c.*4130C>A (n.*4130C>A) c.3731C>A (p.Ser1244Tyr) c.2722+631C>A c.4082C>A (p.Ser1361Tyr) c.3061C>A n.3366C>A n.4189C>A c.4199C>A (p.Ser1400Tyr) c.4178C>A (p.Ser1393Tyr) c.4160C>A (p.Ser1387Tyr) c.4142C>A (p.Ser1381Tyr) c.4103C>A (p.Ser1368Tyr) c.4064C>A (p.Ser1355Tyr) c.3788C>A (p.Ser1263Tyr) c.3749C>A (p.Ser1250Tyr) c.4139C>A (p.Ser1380Tyr) c.4046C>A (p.Ser1349Tyr) c.3521C>A (p.Ser1174Tyr) c.3836C>A (p.Ser1279Tyr) n.8408C>A | gnomAD v4 |
3 | g.9475787C>G | CA351693811 | SETD5 | n.2980C>G c.4121C>G (p.Ser1374Cys) n.5014C>G n.2405C>G n.6267C>G c.4025C>G (p.Ser1342Cys) c.*4171C>G (n.*4171C>G) c.*4094C>G (n.*4094C>G) c.*4399C>G (n.*4399C>G) c.*4130C>G (n.*4130C>G) c.3731C>G (p.Ser1244Cys) c.2722+631C>G c.4082C>G (p.Ser1361Cys) c.3061C>G n.3366C>G n.4189C>G c.4199C>G (p.Ser1400Cys) c.4178C>G (p.Ser1393Cys) c.4160C>G (p.Ser1387Cys) c.4142C>G (p.Ser1381Cys) c.4103C>G (p.Ser1368Cys) c.4064C>G (p.Ser1355Cys) c.3788C>G (p.Ser1263Cys) c.3749C>G (p.Ser1250Cys) c.4139C>G (p.Ser1380Cys) c.4046C>G (p.Ser1349Cys) c.3521C>G (p.Ser1174Cys) c.3836C>G (p.Ser1279Cys) n.8408C>G | |
3 | g.9475787C>T | CA351693815 | SETD5 | n.2980C>T c.4121C>T (p.Ser1374Phe) n.5014C>T n.2405C>T n.6267C>T c.4025C>T (p.Ser1342Phe) c.*4171C>T (n.*4171C>T) c.*4094C>T (n.*4094C>T) c.*4399C>T (n.*4399C>T) c.*4130C>T (n.*4130C>T) c.3731C>T (p.Ser1244Phe) c.2722+631C>T c.4082C>T (p.Ser1361Phe) c.3061C>T n.3366C>T n.4189C>T c.4199C>T (p.Ser1400Phe) c.4178C>T (p.Ser1393Phe) c.4160C>T (p.Ser1387Phe) c.4142C>T (p.Ser1381Phe) c.4103C>T (p.Ser1368Phe) c.4064C>T (p.Ser1355Phe) c.3788C>T (p.Ser1263Phe) c.3749C>T (p.Ser1250Phe) c.4139C>T (p.Ser1380Phe) c.4046C>T (p.Ser1349Phe) c.3521C>T (p.Ser1174Phe) c.3836C>T (p.Ser1279Phe) n.8408C>T | |
3 | g.9475788T>A | CA432528532 | SETD5 | n.2981T>A c.4122T>A (p.Ser1374=) n.5015T>A n.2406T>A n.6268T>A c.4026T>A (p.Ser1342=) c.*4172T>A (n.*4172T>A) c.*4095T>A (n.*4095T>A) c.*4400T>A (n.*4400T>A) c.*4131T>A (n.*4131T>A) c.3732T>A (p.Ser1244=) c.2722+632T>A c.4083T>A (p.Ser1361=) c.3062T>A n.3367T>A n.4190T>A c.4200T>A (p.Ser1400=) c.4179T>A (p.Ser1393=) c.4161T>A (p.Ser1387=) c.4143T>A (p.Ser1381=) c.4104T>A (p.Ser1368=) c.4065T>A (p.Ser1355=) c.3789T>A (p.Ser1263=) c.3750T>A (p.Ser1250=) c.4140T>A (p.Ser1380=) c.4047T>A (p.Ser1349=) c.3522T>A (p.Ser1174=) c.3837T>A (p.Ser1279=) n.8409T>A | |
3 | g.9475788T>C | CA432528534 | SETD5 | n.2981T>C c.4122T>C (p.Ser1374=) n.5015T>C n.2406T>C n.6268T>C c.4026T>C (p.Ser1342=) c.*4172T>C (n.*4172T>C) c.*4095T>C (n.*4095T>C) c.*4400T>C (n.*4400T>C) c.*4131T>C (n.*4131T>C) c.3732T>C (p.Ser1244=) c.2722+632T>C c.4083T>C (p.Ser1361=) c.3062T>C n.3367T>C n.4190T>C c.4200T>C (p.Ser1400=) c.4179T>C (p.Ser1393=) c.4161T>C (p.Ser1387=) c.4143T>C (p.Ser1381=) c.4104T>C (p.Ser1368=) c.4065T>C (p.Ser1355=) c.3789T>C (p.Ser1263=) c.3750T>C (p.Ser1250=) c.4140T>C (p.Ser1380=) c.4047T>C (p.Ser1349=) c.3522T>C (p.Ser1174=) c.3837T>C (p.Ser1279=) n.8409T>C | gnomAD v4 |
3 | g.9475788T>G | CA432528535 | SETD5 | n.2981T>G c.4122T>G (p.Ser1374=) n.5015T>G n.2406T>G n.6268T>G c.4026T>G (p.Ser1342=) c.*4172T>G (n.*4172T>G) c.*4095T>G (n.*4095T>G) c.*4400T>G (n.*4400T>G) c.*4131T>G (n.*4131T>G) c.3732T>G (p.Ser1244=) c.2722+632T>G c.4083T>G (p.Ser1361=) c.3062T>G n.3367T>G n.4190T>G c.4200T>G (p.Ser1400=) c.4179T>G (p.Ser1393=) c.4161T>G (p.Ser1387=) c.4143T>G (p.Ser1381=) c.4104T>G (p.Ser1368=) c.4065T>G (p.Ser1355=) c.3789T>G (p.Ser1263=) c.3750T>G (p.Ser1250=) c.4140T>G (p.Ser1380=) c.4047T>G (p.Ser1349=) c.3522T>G (p.Ser1174=) c.3837T>G (p.Ser1279=) n.8409T>G | |
3 | g.9475789A>C | CA351693820 | SETD5 | n.2982A>C c.4123A>C (p.Ser1375Arg) n.5016A>C n.2407A>C n.6269A>C c.4027A>C (p.Ser1343Arg) c.*4173A>C (n.*4173A>C) c.*4096A>C (n.*4096A>C) c.*4401A>C (n.*4401A>C) c.*4132A>C (n.*4132A>C) c.3733A>C (p.Ser1245Arg) c.2722+633A>C c.4084A>C (p.Ser1362Arg) c.3063A>C n.3368A>C n.4191A>C c.4201A>C (p.Ser1401Arg) c.4180A>C (p.Ser1394Arg) c.4162A>C (p.Ser1388Arg) c.4144A>C (p.Ser1382Arg) c.4105A>C (p.Ser1369Arg) c.4066A>C (p.Ser1356Arg) c.3790A>C (p.Ser1264Arg) c.3751A>C (p.Ser1251Arg) c.4141A>C (p.Ser1381Arg) c.4048A>C (p.Ser1350Arg) c.3523A>C (p.Ser1175Arg) c.3838A>C (p.Ser1280Arg) n.8410A>C | |
3 | g.9475789A>G | CA351693823 | SETD5 | n.2982A>G c.4123A>G (p.Ser1375Gly) n.5016A>G n.2407A>G n.6269A>G c.4027A>G (p.Ser1343Gly) c.*4173A>G (n.*4173A>G) c.*4096A>G (n.*4096A>G) c.*4401A>G (n.*4401A>G) c.*4132A>G (n.*4132A>G) c.3733A>G (p.Ser1245Gly) c.2722+633A>G c.4084A>G (p.Ser1362Gly) c.3063A>G n.3368A>G n.4191A>G c.4201A>G (p.Ser1401Gly) c.4180A>G (p.Ser1394Gly) c.4162A>G (p.Ser1388Gly) c.4144A>G (p.Ser1382Gly) c.4105A>G (p.Ser1369Gly) c.4066A>G (p.Ser1356Gly) c.3790A>G (p.Ser1264Gly) c.3751A>G (p.Ser1251Gly) c.4141A>G (p.Ser1381Gly) c.4048A>G (p.Ser1350Gly) c.3523A>G (p.Ser1175Gly) c.3838A>G (p.Ser1280Gly) n.8410A>G | gnomAD v4 |
3 | g.9475789A>T | CA351693828 | SETD5 | n.2982A>T c.4123A>T (p.Ser1375Cys) n.5016A>T n.2407A>T n.6269A>T c.4027A>T (p.Ser1343Cys) c.*4173A>T (n.*4173A>T) c.*4096A>T (n.*4096A>T) c.*4401A>T (n.*4401A>T) c.*4132A>T (n.*4132A>T) c.3733A>T (p.Ser1245Cys) c.2722+633A>T c.4084A>T (p.Ser1362Cys) c.3063A>T n.3368A>T n.4191A>T c.4201A>T (p.Ser1401Cys) c.4180A>T (p.Ser1394Cys) c.4162A>T (p.Ser1388Cys) c.4144A>T (p.Ser1382Cys) c.4105A>T (p.Ser1369Cys) c.4066A>T (p.Ser1356Cys) c.3790A>T (p.Ser1264Cys) c.3751A>T (p.Ser1251Cys) c.4141A>T (p.Ser1381Cys) c.4048A>T (p.Ser1350Cys) c.3523A>T (p.Ser1175Cys) c.3838A>T (p.Ser1280Cys) n.8410A>T | |
3 | g.9475790G>A | CA2239851 | SETD5 | n.2983G>A c.4124G>A (p.Ser1375Asn) n.5017G>A n.2408G>A n.6270G>A c.4028G>A (p.Ser1343Asn) c.*4174G>A (n.*4174G>A) c.*4097G>A (n.*4097G>A) c.*4402G>A (n.*4402G>A) c.*4133G>A (n.*4133G>A) c.3734G>A (p.Ser1245Asn) c.2722+634G>A c.4085G>A (p.Ser1362Asn) c.3064G>A n.3369G>A n.4192G>A c.4202G>A (p.Ser1401Asn) c.4181G>A (p.Ser1394Asn) c.4163G>A (p.Ser1388Asn) c.4145G>A (p.Ser1382Asn) c.4106G>A (p.Ser1369Asn) c.4067G>A (p.Ser1356Asn) c.3791G>A (p.Ser1264Asn) c.3752G>A (p.Ser1251Asn) c.4142G>A (p.Ser1381Asn) c.4049G>A (p.Ser1350Asn) c.3524G>A (p.Ser1175Asn) c.3839G>A (p.Ser1280Asn) n.8411G>A | dbSNP ExAC |
3 | g.9475790G>C | CA351693834 | SETD5 | n.2983G>C c.4124G>C (p.Ser1375Thr) n.5017G>C n.2408G>C n.6270G>C c.4028G>C (p.Ser1343Thr) c.*4174G>C (n.*4174G>C) c.*4097G>C (n.*4097G>C) c.*4402G>C (n.*4402G>C) c.*4133G>C (n.*4133G>C) c.3734G>C (p.Ser1245Thr) c.2722+634G>C c.4085G>C (p.Ser1362Thr) c.3064G>C n.3369G>C n.4192G>C c.4202G>C (p.Ser1401Thr) c.4181G>C (p.Ser1394Thr) c.4163G>C (p.Ser1388Thr) c.4145G>C (p.Ser1382Thr) c.4106G>C (p.Ser1369Thr) c.4067G>C (p.Ser1356Thr) c.3791G>C (p.Ser1264Thr) c.3752G>C (p.Ser1251Thr) c.4142G>C (p.Ser1381Thr) c.4049G>C (p.Ser1350Thr) c.3524G>C (p.Ser1175Thr) c.3839G>C (p.Ser1280Thr) n.8411G>C | dbSNP |
3 | g.9475790G= | CA1344742799 | SETD5 | n.2983G= c.4124G= (p.Ser1375=) n.5017G= n.2408G= n.6270G= c.4028G= (p.Ser1343=) c.*4174G= (n.*4174G=) c.*4097G= (n.*4097G=) c.*4402G= (n.*4402G=) c.*4133G= (n.*4133G=) c.3734G= (p.Ser1245=) c.2722+634G= c.4085G= (p.Ser1362=) c.3064G= n.3369G= n.4192G= c.4202G= (p.Ser1401=) c.4181G= (p.Ser1394=) c.4163G= (p.Ser1388=) c.4145G= (p.Ser1382=) c.4106G= (p.Ser1369=) c.4067G= (p.Ser1356=) c.3791G= (p.Ser1264=) c.3752G= (p.Ser1251=) c.4142G= (p.Ser1381=) c.4049G= (p.Ser1350=) c.3524G= (p.Ser1175=) c.3839G= (p.Ser1280=) n.8411G= | |
3 | g.9475790G>T | CA351693836 | SETD5 | n.2983G>T c.4124G>T (p.Ser1375Ile) n.5017G>T n.2408G>T n.6270G>T c.4028G>T (p.Ser1343Ile) c.*4174G>T (n.*4174G>T) c.*4097G>T (n.*4097G>T) c.*4402G>T (n.*4402G>T) c.*4133G>T (n.*4133G>T) c.3734G>T (p.Ser1245Ile) c.2722+634G>T c.4085G>T (p.Ser1362Ile) c.3064G>T n.3369G>T n.4192G>T c.4202G>T (p.Ser1401Ile) c.4181G>T (p.Ser1394Ile) c.4163G>T (p.Ser1388Ile) c.4145G>T (p.Ser1382Ile) c.4106G>T (p.Ser1369Ile) c.4067G>T (p.Ser1356Ile) c.3791G>T (p.Ser1264Ile) c.3752G>T (p.Ser1251Ile) c.4142G>T (p.Ser1381Ile) c.4049G>T (p.Ser1350Ile) c.3524G>T (p.Ser1175Ile) c.3839G>T (p.Ser1280Ile) n.8411G>T | |
3 | g.9475791T>A | CA351693844 | SETD5 | n.2984T>A c.4125T>A (p.Ser1375Arg) n.5018T>A n.2409T>A n.6271T>A c.4029T>A (p.Ser1343Arg) c.*4175T>A (n.*4175T>A) c.*4098T>A (n.*4098T>A) c.*4403T>A (n.*4403T>A) c.*4134T>A (n.*4134T>A) c.3735T>A (p.Ser1245Arg) c.2722+635T>A c.4086T>A (p.Ser1362Arg) c.3065T>A n.3370T>A n.4193T>A c.4203T>A (p.Ser1401Arg) c.4182T>A (p.Ser1394Arg) c.4164T>A (p.Ser1388Arg) c.4146T>A (p.Ser1382Arg) c.4107T>A (p.Ser1369Arg) c.4068T>A (p.Ser1356Arg) c.3792T>A (p.Ser1264Arg) c.3753T>A (p.Ser1251Arg) c.4143T>A (p.Ser1381Arg) c.4050T>A (p.Ser1350Arg) c.3525T>A (p.Ser1175Arg) c.3840T>A (p.Ser1280Arg) n.8412T>A | |
3 | g.9475791T>C | CA432528538 | SETD5 | n.2984T>C c.4125T>C (p.Ser1375=) n.5018T>C n.2409T>C n.6271T>C c.4029T>C (p.Ser1343=) c.*4175T>C (n.*4175T>C) c.*4098T>C (n.*4098T>C) c.*4403T>C (n.*4403T>C) c.*4134T>C (n.*4134T>C) c.3735T>C (p.Ser1245=) c.2722+635T>C c.4086T>C (p.Ser1362=) c.3065T>C n.3370T>C n.4193T>C c.4203T>C (p.Ser1401=) c.4182T>C (p.Ser1394=) c.4164T>C (p.Ser1388=) c.4146T>C (p.Ser1382=) c.4107T>C (p.Ser1369=) c.4068T>C (p.Ser1356=) c.3792T>C (p.Ser1264=) c.3753T>C (p.Ser1251=) c.4143T>C (p.Ser1381=) c.4050T>C (p.Ser1350=) c.3525T>C (p.Ser1175=) c.3840T>C (p.Ser1280=) n.8412T>C | |
3 | g.9475791T>G | CA351693842 | SETD5 | n.2984T>G c.4125T>G (p.Ser1375Arg) n.5018T>G n.2409T>G n.6271T>G c.4029T>G (p.Ser1343Arg) c.*4175T>G (n.*4175T>G) c.*4098T>G (n.*4098T>G) c.*4403T>G (n.*4403T>G) c.*4134T>G (n.*4134T>G) c.3735T>G (p.Ser1245Arg) c.2722+635T>G c.4086T>G (p.Ser1362Arg) c.3065T>G n.3370T>G n.4193T>G c.4203T>G (p.Ser1401Arg) c.4182T>G (p.Ser1394Arg) c.4164T>G (p.Ser1388Arg) c.4146T>G (p.Ser1382Arg) c.4107T>G (p.Ser1369Arg) c.4068T>G (p.Ser1356Arg) c.3792T>G (p.Ser1264Arg) c.3753T>G (p.Ser1251Arg) c.4143T>G (p.Ser1381Arg) c.4050T>G (p.Ser1350Arg) c.3525T>G (p.Ser1175Arg) c.3840T>G (p.Ser1280Arg) n.8412T>G | gnomAD v4 |
3 | g.9475792G>A | CA2239852 | SETD5 | n.2985G>A c.4126G>A (p.Ala1376Thr) n.5019G>A n.2410G>A n.6272G>A c.4030G>A (p.Ala1344Thr) c.*4176G>A (n.*4176G>A) c.*4099G>A (n.*4099G>A) c.*4404G>A (n.*4404G>A) c.*4135G>A (n.*4135G>A) c.3736G>A (p.Ala1246Thr) c.2722+636G>A c.4087G>A (p.Ala1363Thr) c.3066G>A n.3371G>A n.4194G>A c.4204G>A (p.Ala1402Thr) c.4183G>A (p.Ala1395Thr) c.4165G>A (p.Ala1389Thr) c.4147G>A (p.Ala1383Thr) c.4108G>A (p.Ala1370Thr) c.4069G>A (p.Ala1357Thr) c.3793G>A (p.Ala1265Thr) c.3754G>A (p.Ala1252Thr) c.4144G>A (p.Ala1382Thr) c.4051G>A (p.Ala1351Thr) c.3526G>A (p.Ala1176Thr) c.3841G>A (p.Ala1281Thr) n.8413G>A | dbSNP ExAC gnomAD v2 |
3 | g.9475792G>C | CA351693856 | SETD5 | n.2985G>C c.4126G>C (p.Ala1376Pro) n.5019G>C n.2410G>C n.6272G>C c.4030G>C (p.Ala1344Pro) c.*4176G>C (n.*4176G>C) c.*4099G>C (n.*4099G>C) c.*4404G>C (n.*4404G>C) c.*4135G>C (n.*4135G>C) c.3736G>C (p.Ala1246Pro) c.2722+636G>C c.4087G>C (p.Ala1363Pro) c.3066G>C n.3371G>C n.4194G>C c.4204G>C (p.Ala1402Pro) c.4183G>C (p.Ala1395Pro) c.4165G>C (p.Ala1389Pro) c.4147G>C (p.Ala1383Pro) c.4108G>C (p.Ala1370Pro) c.4069G>C (p.Ala1357Pro) c.3793G>C (p.Ala1265Pro) c.3754G>C (p.Ala1252Pro) c.4144G>C (p.Ala1382Pro) c.4051G>C (p.Ala1351Pro) c.3526G>C (p.Ala1176Pro) c.3841G>C (p.Ala1281Pro) n.8413G>C | |
3 | g.9475792G= | CA1344742800 | SETD5 | n.2985G= c.4126G= (p.Ala1376=) n.5019G= n.2410G= n.6272G= c.4030G= (p.Ala1344=) c.*4176G= (n.*4176G=) c.*4099G= (n.*4099G=) c.*4404G= (n.*4404G=) c.*4135G= (n.*4135G=) c.3736G= (p.Ala1246=) c.2722+636G= c.4087G= (p.Ala1363=) c.3066G= n.3371G= n.4194G= c.4204G= (p.Ala1402=) c.4183G= (p.Ala1395=) c.4165G= (p.Ala1389=) c.4147G= (p.Ala1383=) c.4108G= (p.Ala1370=) c.4069G= (p.Ala1357=) c.3793G= (p.Ala1265=) c.3754G= (p.Ala1252=) c.4144G= (p.Ala1382=) c.4051G= (p.Ala1351=) c.3526G= (p.Ala1176=) c.3841G= (p.Ala1281=) n.8413G= | |
3 | g.9475792G>T | CA351693852 | SETD5 | n.2985G>T c.4126G>T (p.Ala1376Ser) n.5019G>T n.2410G>T n.6272G>T c.4030G>T (p.Ala1344Ser) c.*4176G>T (n.*4176G>T) c.*4099G>T (n.*4099G>T) c.*4404G>T (n.*4404G>T) c.*4135G>T (n.*4135G>T) c.3736G>T (p.Ala1246Ser) c.2722+636G>T c.4087G>T (p.Ala1363Ser) c.3066G>T n.3371G>T n.4194G>T c.4204G>T (p.Ala1402Ser) c.4183G>T (p.Ala1395Ser) c.4165G>T (p.Ala1389Ser) c.4147G>T (p.Ala1383Ser) c.4108G>T (p.Ala1370Ser) c.4069G>T (p.Ala1357Ser) c.3793G>T (p.Ala1265Ser) c.3754G>T (p.Ala1252Ser) c.4144G>T (p.Ala1382Ser) c.4051G>T (p.Ala1351Ser) c.3526G>T (p.Ala1176Ser) c.3841G>T (p.Ala1281Ser) n.8413G>T | |
3 | g.9475793C>A | CA351693858 | SETD5 | n.2986C>A c.4127C>A (p.Ala1376Asp) n.5020C>A n.2411C>A n.6273C>A c.4031C>A (p.Ala1344Asp) c.*4177C>A (n.*4177C>A) c.*4100C>A (n.*4100C>A) c.*4405C>A (n.*4405C>A) c.*4136C>A (n.*4136C>A) c.3737C>A (p.Ala1246Asp) c.2722+637C>A c.4088C>A (p.Ala1363Asp) c.3067C>A n.3372C>A n.4195C>A c.4205C>A (p.Ala1402Asp) c.4184C>A (p.Ala1395Asp) c.4166C>A (p.Ala1389Asp) c.4148C>A (p.Ala1383Asp) c.4109C>A (p.Ala1370Asp) c.4070C>A (p.Ala1357Asp) c.3794C>A (p.Ala1265Asp) c.3755C>A (p.Ala1252Asp) c.4145C>A (p.Ala1382Asp) c.4052C>A (p.Ala1351Asp) c.3527C>A (p.Ala1176Asp) c.3842C>A (p.Ala1281Asp) n.8414C>A | |
3 | g.9475793C= | CA1344742801 | SETD5 | n.2986C= c.4127C= (p.Ala1376=) n.5020C= n.2411C= n.6273C= c.4031C= (p.Ala1344=) c.*4177C= (n.*4177C=) c.*4100C= (n.*4100C=) c.*4405C= (n.*4405C=) c.*4136C= (n.*4136C=) c.3737C= (p.Ala1246=) c.2722+637C= c.4088C= (p.Ala1363=) c.3067C= n.3372C= n.4195C= c.4205C= (p.Ala1402=) c.4184C= (p.Ala1395=) c.4166C= (p.Ala1389=) c.4148C= (p.Ala1383=) c.4109C= (p.Ala1370=) c.4070C= (p.Ala1357=) c.3794C= (p.Ala1265=) c.3755C= (p.Ala1252=) c.4145C= (p.Ala1382=) c.4052C= (p.Ala1351=) c.3527C= (p.Ala1176=) c.3842C= (p.Ala1281=) n.8414C= | |
3 | g.9475793C>G | CA351693861 | SETD5 | n.2986C>G c.4127C>G (p.Ala1376Gly) n.5020C>G n.2411C>G n.6273C>G c.4031C>G (p.Ala1344Gly) c.*4177C>G (n.*4177C>G) c.*4100C>G (n.*4100C>G) c.*4405C>G (n.*4405C>G) c.*4136C>G (n.*4136C>G) c.3737C>G (p.Ala1246Gly) c.2722+637C>G c.4088C>G (p.Ala1363Gly) c.3067C>G n.3372C>G n.4195C>G c.4205C>G (p.Ala1402Gly) c.4184C>G (p.Ala1395Gly) c.4166C>G (p.Ala1389Gly) c.4148C>G (p.Ala1383Gly) c.4109C>G (p.Ala1370Gly) c.4070C>G (p.Ala1357Gly) c.3794C>G (p.Ala1265Gly) c.3755C>G (p.Ala1252Gly) c.4145C>G (p.Ala1382Gly) c.4052C>G (p.Ala1351Gly) c.3527C>G (p.Ala1176Gly) c.3842C>G (p.Ala1281Gly) n.8414C>G | gnomAD v4 |
3 | g.9475793C>T | CA351693864 | SETD5 | n.2986C>T c.4127C>T (p.Ala1376Val) n.5020C>T n.2411C>T n.6273C>T c.4031C>T (p.Ala1344Val) c.*4177C>T (n.*4177C>T) c.*4100C>T (n.*4100C>T) c.*4405C>T (n.*4405C>T) c.*4136C>T (n.*4136C>T) c.3737C>T (p.Ala1246Val) c.2722+637C>T c.4088C>T (p.Ala1363Val) c.3067C>T n.3372C>T n.4195C>T c.4205C>T (p.Ala1402Val) c.4184C>T (p.Ala1395Val) c.4166C>T (p.Ala1389Val) c.4148C>T (p.Ala1383Val) c.4109C>T (p.Ala1370Val) c.4070C>T (p.Ala1357Val) c.3794C>T (p.Ala1265Val) c.3755C>T (p.Ala1252Val) c.4145C>T (p.Ala1382Val) c.4052C>T (p.Ala1351Val) c.3527C>T (p.Ala1176Val) c.3842C>T (p.Ala1281Val) n.8414C>T | dbSNP gnomAD v4 |
3 | g.9475794T>A | CA432528546 | SETD5 | n.2987T>A c.4128T>A (p.Ala1376=) n.5021T>A n.2412T>A n.6274T>A c.4032T>A (p.Ala1344=) c.*4178T>A (n.*4178T>A) c.*4101T>A (n.*4101T>A) c.*4406T>A (n.*4406T>A) c.*4137T>A (n.*4137T>A) c.3738T>A (p.Ala1246=) c.2722+638T>A c.4089T>A (p.Ala1363=) c.3068T>A n.3373T>A n.4196T>A c.4206T>A (p.Ala1402=) c.4185T>A (p.Ala1395=) c.4167T>A (p.Ala1389=) c.4149T>A (p.Ala1383=) c.4110T>A (p.Ala1370=) c.4071T>A (p.Ala1357=) c.3795T>A (p.Ala1265=) c.3756T>A (p.Ala1252=) c.4146T>A (p.Ala1382=) c.4053T>A (p.Ala1351=) c.3528T>A (p.Ala1176=) c.3843T>A (p.Ala1281=) n.8415T>A | |
3 | g.9475794T>C | CA432528548 | SETD5 | n.2987T>C c.4128T>C (p.Ala1376=) n.5021T>C n.2412T>C n.6274T>C c.4032T>C (p.Ala1344=) c.*4178T>C (n.*4178T>C) c.*4101T>C (n.*4101T>C) c.*4406T>C (n.*4406T>C) c.*4137T>C (n.*4137T>C) c.3738T>C (p.Ala1246=) c.2722+638T>C c.4089T>C (p.Ala1363=) c.3068T>C n.3373T>C n.4196T>C c.4206T>C (p.Ala1402=) c.4185T>C (p.Ala1395=) c.4167T>C (p.Ala1389=) c.4149T>C (p.Ala1383=) c.4110T>C (p.Ala1370=) c.4071T>C (p.Ala1357=) c.3795T>C (p.Ala1265=) c.3756T>C (p.Ala1252=) c.4146T>C (p.Ala1382=) c.4053T>C (p.Ala1351=) c.3528T>C (p.Ala1176=) c.3843T>C (p.Ala1281=) n.8415T>C | |
3 | g.9475794T>G | CA432528550 | SETD5 | n.2987T>G c.4128T>G (p.Ala1376=) n.5021T>G n.2412T>G n.6274T>G c.4032T>G (p.Ala1344=) c.*4178T>G (n.*4178T>G) c.*4101T>G (n.*4101T>G) c.*4406T>G (n.*4406T>G) c.*4137T>G (n.*4137T>G) c.3738T>G (p.Ala1246=) c.2722+638T>G c.4089T>G (p.Ala1363=) c.3068T>G n.3373T>G n.4196T>G c.4206T>G (p.Ala1402=) c.4185T>G (p.Ala1395=) c.4167T>G (p.Ala1389=) c.4149T>G (p.Ala1383=) c.4110T>G (p.Ala1370=) c.4071T>G (p.Ala1357=) c.3795T>G (p.Ala1265=) c.3756T>G (p.Ala1252=) c.4146T>G (p.Ala1382=) c.4053T>G (p.Ala1351=) c.3528T>G (p.Ala1176=) c.3843T>G (p.Ala1281=) n.8415T>G | |
3 | g.9475795G>A | CA351693868 | SETD5 | n.2988G>A c.4129G>A (p.Ala1377Thr) n.5022G>A n.2413G>A n.6275G>A c.4033G>A (p.Ala1345Thr) c.*4179G>A (n.*4179G>A) c.*4102G>A (n.*4102G>A) c.*4407G>A (n.*4407G>A) c.*4138G>A (n.*4138G>A) c.3739G>A (p.Ala1247Thr) c.2722+639G>A c.4090G>A (p.Ala1364Thr) c.3069G>A n.3374G>A n.4197G>A c.4207G>A (p.Ala1403Thr) c.4186G>A (p.Ala1396Thr) c.4168G>A (p.Ala1390Thr) c.4150G>A (p.Ala1384Thr) c.4111G>A (p.Ala1371Thr) c.4072G>A (p.Ala1358Thr) c.3796G>A (p.Ala1266Thr) c.3757G>A (p.Ala1253Thr) c.4147G>A (p.Ala1383Thr) c.4054G>A (p.Ala1352Thr) c.3529G>A (p.Ala1177Thr) c.3844G>A (p.Ala1282Thr) n.8416G>A | |
3 | g.9475795G>C | CA351693869 | SETD5 | n.2988G>C c.4129G>C (p.Ala1377Pro) n.5022G>C n.2413G>C n.6275G>C c.4033G>C (p.Ala1345Pro) c.*4179G>C (n.*4179G>C) c.*4102G>C (n.*4102G>C) c.*4407G>C (n.*4407G>C) c.*4138G>C (n.*4138G>C) c.3739G>C (p.Ala1247Pro) c.2722+639G>C c.4090G>C (p.Ala1364Pro) c.3069G>C n.3374G>C n.4197G>C c.4207G>C (p.Ala1403Pro) c.4186G>C (p.Ala1396Pro) c.4168G>C (p.Ala1390Pro) c.4150G>C (p.Ala1384Pro) c.4111G>C (p.Ala1371Pro) c.4072G>C (p.Ala1358Pro) c.3796G>C (p.Ala1266Pro) c.3757G>C (p.Ala1253Pro) c.4147G>C (p.Ala1383Pro) c.4054G>C (p.Ala1352Pro) c.3529G>C (p.Ala1177Pro) c.3844G>C (p.Ala1282Pro) n.8416G>C | dbSNP |
3 | g.9475795G= | CA1344742802 | SETD5 | n.2988G= c.4129G= (p.Ala1377=) n.5022G= n.2413G= n.6275G= c.4033G= (p.Ala1345=) c.*4179G= (n.*4179G=) c.*4102G= (n.*4102G=) c.*4407G= (n.*4407G=) c.*4138G= (n.*4138G=) c.3739G= (p.Ala1247=) c.2722+639G= c.4090G= (p.Ala1364=) c.3069G= n.3374G= n.4197G= c.4207G= (p.Ala1403=) c.4186G= (p.Ala1396=) c.4168G= (p.Ala1390=) c.4150G= (p.Ala1384=) c.4111G= (p.Ala1371=) c.4072G= (p.Ala1358=) c.3796G= (p.Ala1266=) c.3757G= (p.Ala1253=) c.4147G= (p.Ala1383=) c.4054G= (p.Ala1352=) c.3529G= (p.Ala1177=) c.3844G= (p.Ala1282=) n.8416G= | |
3 | g.9475795G>T | CA351693871 | SETD5 | n.2988G>T c.4129G>T (p.Ala1377Ser) n.5022G>T n.2413G>T n.6275G>T c.4033G>T (p.Ala1345Ser) c.*4179G>T (n.*4179G>T) c.*4102G>T (n.*4102G>T) c.*4407G>T (n.*4407G>T) c.*4138G>T (n.*4138G>T) c.3739G>T (p.Ala1247Ser) c.2722+639G>T c.4090G>T (p.Ala1364Ser) c.3069G>T n.3374G>T n.4197G>T c.4207G>T (p.Ala1403Ser) c.4186G>T (p.Ala1396Ser) c.4168G>T (p.Ala1390Ser) c.4150G>T (p.Ala1384Ser) c.4111G>T (p.Ala1371Ser) c.4072G>T (p.Ala1358Ser) c.3796G>T (p.Ala1266Ser) c.3757G>T (p.Ala1253Ser) c.4147G>T (p.Ala1383Ser) c.4054G>T (p.Ala1352Ser) c.3529G>T (p.Ala1177Ser) c.3844G>T (p.Ala1282Ser) n.8416G>T | |
3 | g.9475796C>A | CA351693872 | SETD5 | n.2989C>A c.4130C>A (p.Ala1377Asp) n.5023C>A n.2414C>A n.6276C>A c.4034C>A (p.Ala1345Asp) c.*4180C>A (n.*4180C>A) c.*4103C>A (n.*4103C>A) c.*4408C>A (n.*4408C>A) c.*4139C>A (n.*4139C>A) c.3740C>A (p.Ala1247Asp) c.2722+640C>A c.4091C>A (p.Ala1364Asp) c.3070C>A n.3375C>A n.4198C>A c.4208C>A (p.Ala1403Asp) c.4187C>A (p.Ala1396Asp) c.4169C>A (p.Ala1390Asp) c.4151C>A (p.Ala1384Asp) c.4112C>A (p.Ala1371Asp) c.4073C>A (p.Ala1358Asp) c.3797C>A (p.Ala1266Asp) c.3758C>A (p.Ala1253Asp) c.4148C>A (p.Ala1383Asp) c.4055C>A (p.Ala1352Asp) c.3530C>A (p.Ala1177Asp) c.3845C>A (p.Ala1282Asp) n.8417C>A | |
3 | g.9475796C= | CA1344742803 | SETD5 | n.2989C= c.4130C= (p.Ala1377=) n.5023C= n.2414C= n.6276C= c.4034C= (p.Ala1345=) c.*4180C= (n.*4180C=) c.*4103C= (n.*4103C=) c.*4408C= (n.*4408C=) c.*4139C= (n.*4139C=) c.3740C= (p.Ala1247=) c.2722+640C= c.4091C= (p.Ala1364=) c.3070C= n.3375C= n.4198C= c.4208C= (p.Ala1403=) c.4187C= (p.Ala1396=) c.4169C= (p.Ala1390=) c.4151C= (p.Ala1384=) c.4112C= (p.Ala1371=) c.4073C= (p.Ala1358=) c.3797C= (p.Ala1266=) c.3758C= (p.Ala1253=) c.4148C= (p.Ala1383=) c.4055C= (p.Ala1352=) c.3530C= (p.Ala1177=) c.3845C= (p.Ala1282=) n.8417C= | |
3 | g.9475796C>G | CA351693874 | SETD5 | n.2989C>G c.4130C>G (p.Ala1377Gly) n.5023C>G n.2414C>G n.6276C>G c.4034C>G (p.Ala1345Gly) c.*4180C>G (n.*4180C>G) c.*4103C>G (n.*4103C>G) c.*4408C>G (n.*4408C>G) c.*4139C>G (n.*4139C>G) c.3740C>G (p.Ala1247Gly) c.2722+640C>G c.4091C>G (p.Ala1364Gly) c.3070C>G n.3375C>G n.4198C>G c.4208C>G (p.Ala1403Gly) c.4187C>G (p.Ala1396Gly) c.4169C>G (p.Ala1390Gly) c.4151C>G (p.Ala1384Gly) c.4112C>G (p.Ala1371Gly) c.4073C>G (p.Ala1358Gly) c.3797C>G (p.Ala1266Gly) c.3758C>G (p.Ala1253Gly) c.4148C>G (p.Ala1383Gly) c.4055C>G (p.Ala1352Gly) c.3530C>G (p.Ala1177Gly) c.3845C>G (p.Ala1282Gly) n.8417C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475796C>T | CA351693876 | SETD5 | n.2989C>T c.4130C>T (p.Ala1377Val) n.5023C>T n.2414C>T n.6276C>T c.4034C>T (p.Ala1345Val) c.*4180C>T (n.*4180C>T) c.*4103C>T (n.*4103C>T) c.*4408C>T (n.*4408C>T) c.*4139C>T (n.*4139C>T) c.3740C>T (p.Ala1247Val) c.2722+640C>T c.4091C>T (p.Ala1364Val) c.3070C>T n.3375C>T n.4198C>T c.4208C>T (p.Ala1403Val) c.4187C>T (p.Ala1396Val) c.4169C>T (p.Ala1390Val) c.4151C>T (p.Ala1384Val) c.4112C>T (p.Ala1371Val) c.4073C>T (p.Ala1358Val) c.3797C>T (p.Ala1266Val) c.3758C>T (p.Ala1253Val) c.4148C>T (p.Ala1383Val) c.4055C>T (p.Ala1352Val) c.3530C>T (p.Ala1177Val) c.3845C>T (p.Ala1282Val) n.8417C>T | |
3 | g.9475797T>A | CA432528551 | SETD5 | n.2990T>A c.4131T>A (p.Ala1377=) n.5024T>A n.2415T>A n.6277T>A c.4035T>A (p.Ala1345=) c.*4181T>A (n.*4181T>A) c.*4104T>A (n.*4104T>A) c.*4409T>A (n.*4409T>A) c.*4140T>A (n.*4140T>A) c.3741T>A (p.Ala1247=) c.2722+641T>A c.4092T>A (p.Ala1364=) c.3071T>A n.3376T>A n.4199T>A c.4209T>A (p.Ala1403=) c.4188T>A (p.Ala1396=) c.4170T>A (p.Ala1390=) c.4152T>A (p.Ala1384=) c.4113T>A (p.Ala1371=) c.4074T>A (p.Ala1358=) c.3798T>A (p.Ala1266=) c.3759T>A (p.Ala1253=) c.4149T>A (p.Ala1383=) c.4056T>A (p.Ala1352=) c.3531T>A (p.Ala1177=) c.3846T>A (p.Ala1282=) n.8418T>A | |
3 | g.9475797T>C | CA432528552 | SETD5 | n.2990T>C c.4131T>C (p.Ala1377=) n.5024T>C n.2415T>C n.6277T>C c.4035T>C (p.Ala1345=) c.*4181T>C (n.*4181T>C) c.*4104T>C (n.*4104T>C) c.*4409T>C (n.*4409T>C) c.*4140T>C (n.*4140T>C) c.3741T>C (p.Ala1247=) c.2722+641T>C c.4092T>C (p.Ala1364=) c.3071T>C n.3376T>C n.4199T>C c.4209T>C (p.Ala1403=) c.4188T>C (p.Ala1396=) c.4170T>C (p.Ala1390=) c.4152T>C (p.Ala1384=) c.4113T>C (p.Ala1371=) c.4074T>C (p.Ala1358=) c.3798T>C (p.Ala1266=) c.3759T>C (p.Ala1253=) c.4149T>C (p.Ala1383=) c.4056T>C (p.Ala1352=) c.3531T>C (p.Ala1177=) c.3846T>C (p.Ala1282=) n.8418T>C | |
3 | g.9475797T>G | CA432528553 | SETD5 | n.2990T>G c.4131T>G (p.Ala1377=) n.5024T>G n.2415T>G n.6277T>G c.4035T>G (p.Ala1345=) c.*4181T>G (n.*4181T>G) c.*4104T>G (n.*4104T>G) c.*4409T>G (n.*4409T>G) c.*4140T>G (n.*4140T>G) c.3741T>G (p.Ala1247=) c.2722+641T>G c.4092T>G (p.Ala1364=) c.3071T>G n.3376T>G n.4199T>G c.4209T>G (p.Ala1403=) c.4188T>G (p.Ala1396=) c.4170T>G (p.Ala1390=) c.4152T>G (p.Ala1384=) c.4113T>G (p.Ala1371=) c.4074T>G (p.Ala1358=) c.3798T>G (p.Ala1266=) c.3759T>G (p.Ala1253=) c.4149T>G (p.Ala1383=) c.4056T>G (p.Ala1352=) c.3531T>G (p.Ala1177=) c.3846T>G (p.Ala1282=) n.8418T>G | |
3 | g.9475798A>C | CA351693878 | SETD5 | n.2991A>C c.4132A>C (p.Ser1378Arg) n.5025A>C n.2416A>C n.6278A>C c.4036A>C (p.Ser1346Arg) c.*4182A>C (n.*4182A>C) c.*4105A>C (n.*4105A>C) c.*4410A>C (n.*4410A>C) c.*4141A>C (n.*4141A>C) c.3742A>C (p.Ser1248Arg) c.2722+642A>C c.4093A>C (p.Ser1365Arg) c.3072A>C n.3377A>C n.4200A>C c.4210A>C (p.Ser1404Arg) c.4189A>C (p.Ser1397Arg) c.4171A>C (p.Ser1391Arg) c.4153A>C (p.Ser1385Arg) c.4114A>C (p.Ser1372Arg) c.4075A>C (p.Ser1359Arg) c.3799A>C (p.Ser1267Arg) c.3760A>C (p.Ser1254Arg) c.4150A>C (p.Ser1384Arg) c.4057A>C (p.Ser1353Arg) c.3532A>C (p.Ser1178Arg) c.3847A>C (p.Ser1283Arg) n.8419A>C | |
3 | g.9475798A>G | CA351693879 | SETD5 | n.2991A>G c.4132A>G (p.Ser1378Gly) n.5025A>G n.2416A>G n.6278A>G c.4036A>G (p.Ser1346Gly) c.*4182A>G (n.*4182A>G) c.*4105A>G (n.*4105A>G) c.*4410A>G (n.*4410A>G) c.*4141A>G (n.*4141A>G) c.3742A>G (p.Ser1248Gly) c.2722+642A>G c.4093A>G (p.Ser1365Gly) c.3072A>G n.3377A>G n.4200A>G c.4210A>G (p.Ser1404Gly) c.4189A>G (p.Ser1397Gly) c.4171A>G (p.Ser1391Gly) c.4153A>G (p.Ser1385Gly) c.4114A>G (p.Ser1372Gly) c.4075A>G (p.Ser1359Gly) c.3799A>G (p.Ser1267Gly) c.3760A>G (p.Ser1254Gly) c.4150A>G (p.Ser1384Gly) c.4057A>G (p.Ser1353Gly) c.3532A>G (p.Ser1178Gly) c.3847A>G (p.Ser1283Gly) n.8419A>G | |
3 | g.9475798A>T | CA351693880 | SETD5 | n.2991A>T c.4132A>T (p.Ser1378Cys) n.5025A>T n.2416A>T n.6278A>T c.4036A>T (p.Ser1346Cys) c.*4182A>T (n.*4182A>T) c.*4105A>T (n.*4105A>T) c.*4410A>T (n.*4410A>T) c.*4141A>T (n.*4141A>T) c.3742A>T (p.Ser1248Cys) c.2722+642A>T c.4093A>T (p.Ser1365Cys) c.3072A>T n.3377A>T n.4200A>T c.4210A>T (p.Ser1404Cys) c.4189A>T (p.Ser1397Cys) c.4171A>T (p.Ser1391Cys) c.4153A>T (p.Ser1385Cys) c.4114A>T (p.Ser1372Cys) c.4075A>T (p.Ser1359Cys) c.3799A>T (p.Ser1267Cys) c.3760A>T (p.Ser1254Cys) c.4150A>T (p.Ser1384Cys) c.4057A>T (p.Ser1353Cys) c.3532A>T (p.Ser1178Cys) c.3847A>T (p.Ser1283Cys) n.8419A>T | |
3 | g.9475799G>A | CA351693886 | SETD5 | n.2992G>A c.4133G>A (p.Ser1378Asn) n.5026G>A n.2417G>A n.6279G>A c.4037G>A (p.Ser1346Asn) c.*4183G>A (n.*4183G>A) c.*4106G>A (n.*4106G>A) c.*4411G>A (n.*4411G>A) c.*4142G>A (n.*4142G>A) c.3743G>A (p.Ser1248Asn) c.2722+643G>A c.4094G>A (p.Ser1365Asn) c.3073G>A n.3378G>A n.4201G>A c.4211G>A (p.Ser1404Asn) c.4190G>A (p.Ser1397Asn) c.4172G>A (p.Ser1391Asn) c.4154G>A (p.Ser1385Asn) c.4115G>A (p.Ser1372Asn) c.4076G>A (p.Ser1359Asn) c.3800G>A (p.Ser1267Asn) c.3761G>A (p.Ser1254Asn) c.4151G>A (p.Ser1384Asn) c.4058G>A (p.Ser1353Asn) c.3533G>A (p.Ser1178Asn) c.3848G>A (p.Ser1283Asn) n.8420G>A | |
3 | g.9475799G>C | CA351693883 | SETD5 | n.2992G>C c.4133G>C (p.Ser1378Thr) n.5026G>C n.2417G>C n.6279G>C c.4037G>C (p.Ser1346Thr) c.*4183G>C (n.*4183G>C) c.*4106G>C (n.*4106G>C) c.*4411G>C (n.*4411G>C) c.*4142G>C (n.*4142G>C) c.3743G>C (p.Ser1248Thr) c.2722+643G>C c.4094G>C (p.Ser1365Thr) c.3073G>C n.3378G>C n.4201G>C c.4211G>C (p.Ser1404Thr) c.4190G>C (p.Ser1397Thr) c.4172G>C (p.Ser1391Thr) c.4154G>C (p.Ser1385Thr) c.4115G>C (p.Ser1372Thr) c.4076G>C (p.Ser1359Thr) c.3800G>C (p.Ser1267Thr) c.3761G>C (p.Ser1254Thr) c.4151G>C (p.Ser1384Thr) c.4058G>C (p.Ser1353Thr) c.3533G>C (p.Ser1178Thr) c.3848G>C (p.Ser1283Thr) n.8420G>C | gnomAD v4 |
3 | g.9475799G>T | CA351693884 | SETD5 | n.2992G>T c.4133G>T (p.Ser1378Ile) n.5026G>T n.2417G>T n.6279G>T c.4037G>T (p.Ser1346Ile) c.*4183G>T (n.*4183G>T) c.*4106G>T (n.*4106G>T) c.*4411G>T (n.*4411G>T) c.*4142G>T (n.*4142G>T) c.3743G>T (p.Ser1248Ile) c.2722+643G>T c.4094G>T (p.Ser1365Ile) c.3073G>T n.3378G>T n.4201G>T c.4211G>T (p.Ser1404Ile) c.4190G>T (p.Ser1397Ile) c.4172G>T (p.Ser1391Ile) c.4154G>T (p.Ser1385Ile) c.4115G>T (p.Ser1372Ile) c.4076G>T (p.Ser1359Ile) c.3800G>T (p.Ser1267Ile) c.3761G>T (p.Ser1254Ile) c.4151G>T (p.Ser1384Ile) c.4058G>T (p.Ser1353Ile) c.3533G>T (p.Ser1178Ile) c.3848G>T (p.Ser1283Ile) n.8420G>T | gnomAD v4 |
3 | g.9475800C>A | CA351693889 | SETD5 | n.2993C>A c.4134C>A (p.Ser1378Arg) n.5027C>A n.2418C>A n.6280C>A c.4038C>A (p.Ser1346Arg) c.*4184C>A (n.*4184C>A) c.*4107C>A (n.*4107C>A) c.*4412C>A (n.*4412C>A) c.*4143C>A (n.*4143C>A) c.3744C>A (p.Ser1248Arg) c.2722+644C>A c.4095C>A (p.Ser1365Arg) c.3074C>A n.3379C>A n.4202C>A c.4212C>A (p.Ser1404Arg) c.4191C>A (p.Ser1397Arg) c.4173C>A (p.Ser1391Arg) c.4155C>A (p.Ser1385Arg) c.4116C>A (p.Ser1372Arg) c.4077C>A (p.Ser1359Arg) c.3801C>A (p.Ser1267Arg) c.3762C>A (p.Ser1254Arg) c.4152C>A (p.Ser1384Arg) c.4059C>A (p.Ser1353Arg) c.3534C>A (p.Ser1178Arg) c.3849C>A (p.Ser1283Arg) n.8421C>A | |
3 | g.9475800C= | CA1344742804 | SETD5 | n.2993C= c.4134C= (p.Ser1378=) n.5027C= n.2418C= n.6280C= c.4038C= (p.Ser1346=) c.*4184C= (n.*4184C=) c.*4107C= (n.*4107C=) c.*4412C= (n.*4412C=) c.*4143C= (n.*4143C=) c.3744C= (p.Ser1248=) c.2722+644C= c.4095C= (p.Ser1365=) c.3074C= n.3379C= n.4202C= c.4212C= (p.Ser1404=) c.4191C= (p.Ser1397=) c.4173C= (p.Ser1391=) c.4155C= (p.Ser1385=) c.4116C= (p.Ser1372=) c.4077C= (p.Ser1359=) c.3801C= (p.Ser1267=) c.3762C= (p.Ser1254=) c.4152C= (p.Ser1384=) c.4059C= (p.Ser1353=) c.3534C= (p.Ser1178=) c.3849C= (p.Ser1283=) n.8421C= | |
3 | g.9475800C>G | CA351693890 | SETD5 | n.2993C>G c.4134C>G (p.Ser1378Arg) n.5027C>G n.2418C>G n.6280C>G c.4038C>G (p.Ser1346Arg) c.*4184C>G (n.*4184C>G) c.*4107C>G (n.*4107C>G) c.*4412C>G (n.*4412C>G) c.*4143C>G (n.*4143C>G) c.3744C>G (p.Ser1248Arg) c.2722+644C>G c.4095C>G (p.Ser1365Arg) c.3074C>G n.3379C>G n.4202C>G c.4212C>G (p.Ser1404Arg) c.4191C>G (p.Ser1397Arg) c.4173C>G (p.Ser1391Arg) c.4155C>G (p.Ser1385Arg) c.4116C>G (p.Ser1372Arg) c.4077C>G (p.Ser1359Arg) c.3801C>G (p.Ser1267Arg) c.3762C>G (p.Ser1254Arg) c.4152C>G (p.Ser1384Arg) c.4059C>G (p.Ser1353Arg) c.3534C>G (p.Ser1178Arg) c.3849C>G (p.Ser1283Arg) n.8421C>G | |
3 | g.9475800C>T | CA432528561 | SETD5 | n.2993C>T c.4134C>T (p.Ser1378=) n.5027C>T n.2418C>T n.6280C>T c.4038C>T (p.Ser1346=) c.*4184C>T (n.*4184C>T) c.*4107C>T (n.*4107C>T) c.*4412C>T (n.*4412C>T) c.*4143C>T (n.*4143C>T) c.3744C>T (p.Ser1248=) c.2722+644C>T c.4095C>T (p.Ser1365=) c.3074C>T n.3379C>T n.4202C>T c.4212C>T (p.Ser1404=) c.4191C>T (p.Ser1397=) c.4173C>T (p.Ser1391=) c.4155C>T (p.Ser1385=) c.4116C>T (p.Ser1372=) c.4077C>T (p.Ser1359=) c.3801C>T (p.Ser1267=) c.3762C>T (p.Ser1254=) c.4152C>T (p.Ser1384=) c.4059C>T (p.Ser1353=) c.3534C>T (p.Ser1178=) c.3849C>T (p.Ser1283=) n.8421C>T | dbSNP gnomAD v4 |
3 | g.9475801C>A | CA351693891 | SETD5 | n.2994C>A c.4135C>A (p.Pro1379Thr) n.5028C>A n.2419C>A n.6281C>A c.4039C>A (p.Pro1347Thr) c.*4185C>A (n.*4185C>A) c.*4108C>A (n.*4108C>A) c.*4413C>A (n.*4413C>A) c.*4144C>A (n.*4144C>A) c.3745C>A (p.Pro1249Thr) c.2722+645C>A c.4096C>A (p.Pro1366Thr) c.3075C>A n.3380C>A n.4203C>A c.4213C>A (p.Pro1405Thr) c.4192C>A (p.Pro1398Thr) c.4174C>A (p.Pro1392Thr) c.4156C>A (p.Pro1386Thr) c.4117C>A (p.Pro1373Thr) c.4078C>A (p.Pro1360Thr) c.3802C>A (p.Pro1268Thr) c.3763C>A (p.Pro1255Thr) c.4153C>A (p.Pro1385Thr) c.4060C>A (p.Pro1354Thr) c.3535C>A (p.Pro1179Thr) c.3850C>A (p.Pro1284Thr) n.8422C>A | COSMIC COSMIC |
3 | g.9475801C>G | CA351693892 | SETD5 | n.2994C>G c.4135C>G (p.Pro1379Ala) n.5028C>G n.2419C>G n.6281C>G c.4039C>G (p.Pro1347Ala) c.*4185C>G (n.*4185C>G) c.*4108C>G (n.*4108C>G) c.*4413C>G (n.*4413C>G) c.*4144C>G (n.*4144C>G) c.3745C>G (p.Pro1249Ala) c.2722+645C>G c.4096C>G (p.Pro1366Ala) c.3075C>G n.3380C>G n.4203C>G c.4213C>G (p.Pro1405Ala) c.4192C>G (p.Pro1398Ala) c.4174C>G (p.Pro1392Ala) c.4156C>G (p.Pro1386Ala) c.4117C>G (p.Pro1373Ala) c.4078C>G (p.Pro1360Ala) c.3802C>G (p.Pro1268Ala) c.3763C>G (p.Pro1255Ala) c.4153C>G (p.Pro1385Ala) c.4060C>G (p.Pro1354Ala) c.3535C>G (p.Pro1179Ala) c.3850C>G (p.Pro1284Ala) n.8422C>G | |
3 | g.9475801C>T | CA351693894 | SETD5 | n.2994C>T c.4135C>T (p.Pro1379Ser) n.5028C>T n.2419C>T n.6281C>T c.4039C>T (p.Pro1347Ser) c.*4185C>T (n.*4185C>T) c.*4108C>T (n.*4108C>T) c.*4413C>T (n.*4413C>T) c.*4144C>T (n.*4144C>T) c.3745C>T (p.Pro1249Ser) c.2722+645C>T c.4096C>T (p.Pro1366Ser) c.3075C>T n.3380C>T n.4203C>T c.4213C>T (p.Pro1405Ser) c.4192C>T (p.Pro1398Ser) c.4174C>T (p.Pro1392Ser) c.4156C>T (p.Pro1386Ser) c.4117C>T (p.Pro1373Ser) c.4078C>T (p.Pro1360Ser) c.3802C>T (p.Pro1268Ser) c.3763C>T (p.Pro1255Ser) c.4153C>T (p.Pro1385Ser) c.4060C>T (p.Pro1354Ser) c.3535C>T (p.Pro1179Ser) c.3850C>T (p.Pro1284Ser) n.8422C>T | gnomAD v4 |
3 | g.9475802C>A | CA351693895 | SETD5 | n.2995C>A c.4136C>A (p.Pro1379His) n.5029C>A n.2420C>A n.6282C>A c.4040C>A (p.Pro1347His) c.*4186C>A (n.*4186C>A) c.*4109C>A (n.*4109C>A) c.*4414C>A (n.*4414C>A) c.*4145C>A (n.*4145C>A) c.3746C>A (p.Pro1249His) c.2722+646C>A c.4097C>A (p.Pro1366His) c.3076C>A n.3381C>A n.4204C>A c.4214C>A (p.Pro1405His) c.4193C>A (p.Pro1398His) c.4175C>A (p.Pro1392His) c.4157C>A (p.Pro1386His) c.4118C>A (p.Pro1373His) c.4079C>A (p.Pro1360His) c.3803C>A (p.Pro1268His) c.3764C>A (p.Pro1255His) c.4154C>A (p.Pro1385His) c.4061C>A (p.Pro1354His) c.3536C>A (p.Pro1179His) c.3851C>A (p.Pro1284His) n.8423C>A | |
3 | g.9475802C>G | CA351693896 | SETD5 | n.2995C>G c.4136C>G (p.Pro1379Arg) n.5029C>G n.2420C>G n.6282C>G c.4040C>G (p.Pro1347Arg) c.*4186C>G (n.*4186C>G) c.*4109C>G (n.*4109C>G) c.*4414C>G (n.*4414C>G) c.*4145C>G (n.*4145C>G) c.3746C>G (p.Pro1249Arg) c.2722+646C>G c.4097C>G (p.Pro1366Arg) c.3076C>G n.3381C>G n.4204C>G c.4214C>G (p.Pro1405Arg) c.4193C>G (p.Pro1398Arg) c.4175C>G (p.Pro1392Arg) c.4157C>G (p.Pro1386Arg) c.4118C>G (p.Pro1373Arg) c.4079C>G (p.Pro1360Arg) c.3803C>G (p.Pro1268Arg) c.3764C>G (p.Pro1255Arg) c.4154C>G (p.Pro1385Arg) c.4061C>G (p.Pro1354Arg) c.3536C>G (p.Pro1179Arg) c.3851C>G (p.Pro1284Arg) n.8423C>G | |
3 | g.9475802C>T | CA351693898 | SETD5 | n.2995C>T c.4136C>T (p.Pro1379Leu) n.5029C>T n.2420C>T n.6282C>T c.4040C>T (p.Pro1347Leu) c.*4186C>T (n.*4186C>T) c.*4109C>T (n.*4109C>T) c.*4414C>T (n.*4414C>T) c.*4145C>T (n.*4145C>T) c.3746C>T (p.Pro1249Leu) c.2722+646C>T c.4097C>T (p.Pro1366Leu) c.3076C>T n.3381C>T n.4204C>T c.4214C>T (p.Pro1405Leu) c.4193C>T (p.Pro1398Leu) c.4175C>T (p.Pro1392Leu) c.4157C>T (p.Pro1386Leu) c.4118C>T (p.Pro1373Leu) c.4079C>T (p.Pro1360Leu) c.3803C>T (p.Pro1268Leu) c.3764C>T (p.Pro1255Leu) c.4154C>T (p.Pro1385Leu) c.4061C>T (p.Pro1354Leu) c.3536C>T (p.Pro1179Leu) c.3851C>T (p.Pro1284Leu) n.8423C>T | |
3 | g.9475803T>A | CA432528563 | SETD5 | n.2996T>A c.4137T>A (p.Pro1379=) n.5030T>A n.2421T>A n.6283T>A c.4041T>A (p.Pro1347=) c.*4187T>A (n.*4187T>A) c.*4110T>A (n.*4110T>A) c.*4415T>A (n.*4415T>A) c.*4146T>A (n.*4146T>A) c.3747T>A (p.Pro1249=) c.2722+647T>A c.4098T>A (p.Pro1366=) c.3077T>A n.3382T>A n.4205T>A c.4215T>A (p.Pro1405=) c.4194T>A (p.Pro1398=) c.4176T>A (p.Pro1392=) c.4158T>A (p.Pro1386=) c.4119T>A (p.Pro1373=) c.4080T>A (p.Pro1360=) c.3804T>A (p.Pro1268=) c.3765T>A (p.Pro1255=) c.4155T>A (p.Pro1385=) c.4062T>A (p.Pro1354=) c.3537T>A (p.Pro1179=) c.3852T>A (p.Pro1284=) n.8424T>A | |
3 | g.9475803T>C | CA432528565 | SETD5 | n.2996T>C c.4137T>C (p.Pro1379=) n.5030T>C n.2421T>C n.6283T>C c.4041T>C (p.Pro1347=) c.*4187T>C (n.*4187T>C) c.*4110T>C (n.*4110T>C) c.*4415T>C (n.*4415T>C) c.*4146T>C (n.*4146T>C) c.3747T>C (p.Pro1249=) c.2722+647T>C c.4098T>C (p.Pro1366=) c.3077T>C n.3382T>C n.4205T>C c.4215T>C (p.Pro1405=) c.4194T>C (p.Pro1398=) c.4176T>C (p.Pro1392=) c.4158T>C (p.Pro1386=) c.4119T>C (p.Pro1373=) c.4080T>C (p.Pro1360=) c.3804T>C (p.Pro1268=) c.3765T>C (p.Pro1255=) c.4155T>C (p.Pro1385=) c.4062T>C (p.Pro1354=) c.3537T>C (p.Pro1179=) c.3852T>C (p.Pro1284=) n.8424T>C | |
3 | g.9475803T>G | CA432528566 | SETD5 | n.2996T>G c.4137T>G (p.Pro1379=) n.5030T>G n.2421T>G n.6283T>G c.4041T>G (p.Pro1347=) c.*4187T>G (n.*4187T>G) c.*4110T>G (n.*4110T>G) c.*4415T>G (n.*4415T>G) c.*4146T>G (n.*4146T>G) c.3747T>G (p.Pro1249=) c.2722+647T>G c.4098T>G (p.Pro1366=) c.3077T>G n.3382T>G n.4205T>G c.4215T>G (p.Pro1405=) c.4194T>G (p.Pro1398=) c.4176T>G (p.Pro1392=) c.4158T>G (p.Pro1386=) c.4119T>G (p.Pro1373=) c.4080T>G (p.Pro1360=) c.3804T>G (p.Pro1268=) c.3765T>G (p.Pro1255=) c.4155T>G (p.Pro1385=) c.4062T>G (p.Pro1354=) c.3537T>G (p.Pro1179=) c.3852T>G (p.Pro1284=) n.8424T>G | |
3 | g.9475804A= | CA1344742805 | SETD5 | n.2997A= c.4138A= (p.Thr1380=) n.5031A= n.2422A= n.6284A= c.4042A= (p.Thr1348=) c.*4188A= (n.*4188A=) c.*4111A= (n.*4111A=) c.*4416A= (n.*4416A=) c.*4147A= (n.*4147A=) c.3748A= (p.Thr1250=) c.2722+648A= c.4099A= (p.Thr1367=) c.3078A= n.3383A= n.4206A= c.4216A= (p.Thr1406=) c.4195A= (p.Thr1399=) c.4177A= (p.Thr1393=) c.4159A= (p.Thr1387=) c.4120A= (p.Thr1374=) c.4081A= (p.Thr1361=) c.3805A= (p.Thr1269=) c.3766A= (p.Thr1256=) c.4156A= (p.Thr1386=) c.4063A= (p.Thr1355=) c.3538A= (p.Thr1180=) c.3853A= (p.Thr1285=) n.8425A= | |
3 | g.9475804A>C | CA351693900 | SETD5 | n.2997A>C c.4138A>C (p.Thr1380Pro) n.5031A>C n.2422A>C n.6284A>C c.4042A>C (p.Thr1348Pro) c.*4188A>C (n.*4188A>C) c.*4111A>C (n.*4111A>C) c.*4416A>C (n.*4416A>C) c.*4147A>C (n.*4147A>C) c.3748A>C (p.Thr1250Pro) c.2722+648A>C c.4099A>C (p.Thr1367Pro) c.3078A>C n.3383A>C n.4206A>C c.4216A>C (p.Thr1406Pro) c.4195A>C (p.Thr1399Pro) c.4177A>C (p.Thr1393Pro) c.4159A>C (p.Thr1387Pro) c.4120A>C (p.Thr1374Pro) c.4081A>C (p.Thr1361Pro) c.3805A>C (p.Thr1269Pro) c.3766A>C (p.Thr1256Pro) c.4156A>C (p.Thr1386Pro) c.4063A>C (p.Thr1355Pro) c.3538A>C (p.Thr1180Pro) c.3853A>C (p.Thr1285Pro) n.8425A>C | |
3 | g.9475804A>G | CA351693902 | SETD5 | n.2997A>G c.4138A>G (p.Thr1380Ala) n.5031A>G n.2422A>G n.6284A>G c.4042A>G (p.Thr1348Ala) c.*4188A>G (n.*4188A>G) c.*4111A>G (n.*4111A>G) c.*4416A>G (n.*4416A>G) c.*4147A>G (n.*4147A>G) c.3748A>G (p.Thr1250Ala) c.2722+648A>G c.4099A>G (p.Thr1367Ala) c.3078A>G n.3383A>G n.4206A>G c.4216A>G (p.Thr1406Ala) c.4195A>G (p.Thr1399Ala) c.4177A>G (p.Thr1393Ala) c.4159A>G (p.Thr1387Ala) c.4120A>G (p.Thr1374Ala) c.4081A>G (p.Thr1361Ala) c.3805A>G (p.Thr1269Ala) c.3766A>G (p.Thr1256Ala) c.4156A>G (p.Thr1386Ala) c.4063A>G (p.Thr1355Ala) c.3538A>G (p.Thr1180Ala) c.3853A>G (p.Thr1285Ala) n.8425A>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.9475804A>T | CA351693903 | SETD5 | n.2997A>T c.4138A>T (p.Thr1380Ser) n.5031A>T n.2422A>T n.6284A>T c.4042A>T (p.Thr1348Ser) c.*4188A>T (n.*4188A>T) c.*4111A>T (n.*4111A>T) c.*4416A>T (n.*4416A>T) c.*4147A>T (n.*4147A>T) c.3748A>T (p.Thr1250Ser) c.2722+648A>T c.4099A>T (p.Thr1367Ser) c.3078A>T n.3383A>T n.4206A>T c.4216A>T (p.Thr1406Ser) c.4195A>T (p.Thr1399Ser) c.4177A>T (p.Thr1393Ser) c.4159A>T (p.Thr1387Ser) c.4120A>T (p.Thr1374Ser) c.4081A>T (p.Thr1361Ser) c.3805A>T (p.Thr1269Ser) c.3766A>T (p.Thr1256Ser) c.4156A>T (p.Thr1386Ser) c.4063A>T (p.Thr1355Ser) c.3538A>T (p.Thr1180Ser) c.3853A>T (p.Thr1285Ser) n.8425A>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.9475805C>A | CA351693909 | SETD5 | n.2998C>A c.4139C>A (p.Thr1380Asn) n.5032C>A n.2423C>A n.6285C>A c.4043C>A (p.Thr1348Asn) c.*4189C>A (n.*4189C>A) c.*4112C>A (n.*4112C>A) c.*4417C>A (n.*4417C>A) c.*4148C>A (n.*4148C>A) c.3749C>A (p.Thr1250Asn) c.2722+649C>A c.4100C>A (p.Thr1367Asn) c.3079C>A n.3384C>A n.4207C>A c.4217C>A (p.Thr1406Asn) c.4196C>A (p.Thr1399Asn) c.4178C>A (p.Thr1393Asn) c.4160C>A (p.Thr1387Asn) c.4121C>A (p.Thr1374Asn) c.4082C>A (p.Thr1361Asn) c.3806C>A (p.Thr1269Asn) c.3767C>A (p.Thr1256Asn) c.4157C>A (p.Thr1386Asn) c.4064C>A (p.Thr1355Asn) c.3539C>A (p.Thr1180Asn) c.3854C>A (p.Thr1285Asn) n.8426C>A | |
3 | g.9475805C= | CA1344742806 | SETD5 | n.2998C= c.4139C= (p.Thr1380=) n.5032C= n.2423C= n.6285C= c.4043C= (p.Thr1348=) c.*4189C= (n.*4189C=) c.*4112C= (n.*4112C=) c.*4417C= (n.*4417C=) c.*4148C= (n.*4148C=) c.3749C= (p.Thr1250=) c.2722+649C= c.4100C= (p.Thr1367=) c.3079C= n.3384C= n.4207C= c.4217C= (p.Thr1406=) c.4196C= (p.Thr1399=) c.4178C= (p.Thr1393=) c.4160C= (p.Thr1387=) c.4121C= (p.Thr1374=) c.4082C= (p.Thr1361=) c.3806C= (p.Thr1269=) c.3767C= (p.Thr1256=) c.4157C= (p.Thr1386=) c.4064C= (p.Thr1355=) c.3539C= (p.Thr1180=) c.3854C= (p.Thr1285=) n.8426C= | |
3 | g.9475805C>G | CA351693908 | SETD5 | n.2998C>G c.4139C>G (p.Thr1380Ser) n.5032C>G n.2423C>G n.6285C>G c.4043C>G (p.Thr1348Ser) c.*4189C>G (n.*4189C>G) c.*4112C>G (n.*4112C>G) c.*4417C>G (n.*4417C>G) c.*4148C>G (n.*4148C>G) c.3749C>G (p.Thr1250Ser) c.2722+649C>G c.4100C>G (p.Thr1367Ser) c.3079C>G n.3384C>G n.4207C>G c.4217C>G (p.Thr1406Ser) c.4196C>G (p.Thr1399Ser) c.4178C>G (p.Thr1393Ser) c.4160C>G (p.Thr1387Ser) c.4121C>G (p.Thr1374Ser) c.4082C>G (p.Thr1361Ser) c.3806C>G (p.Thr1269Ser) c.3767C>G (p.Thr1256Ser) c.4157C>G (p.Thr1386Ser) c.4064C>G (p.Thr1355Ser) c.3539C>G (p.Thr1180Ser) c.3854C>G (p.Thr1285Ser) n.8426C>G | |
3 | g.9475805C>T | CA351693906 | SETD5 | n.2998C>T c.4139C>T (p.Thr1380Ile) n.5032C>T n.2423C>T n.6285C>T c.4043C>T (p.Thr1348Ile) c.*4189C>T (n.*4189C>T) c.*4112C>T (n.*4112C>T) c.*4417C>T (n.*4417C>T) c.*4148C>T (n.*4148C>T) c.3749C>T (p.Thr1250Ile) c.2722+649C>T c.4100C>T (p.Thr1367Ile) c.3079C>T n.3384C>T n.4207C>T c.4217C>T (p.Thr1406Ile) c.4196C>T (p.Thr1399Ile) c.4178C>T (p.Thr1393Ile) c.4160C>T (p.Thr1387Ile) c.4121C>T (p.Thr1374Ile) c.4082C>T (p.Thr1361Ile) c.3806C>T (p.Thr1269Ile) c.3767C>T (p.Thr1256Ile) c.4157C>T (p.Thr1386Ile) c.4064C>T (p.Thr1355Ile) c.3539C>T (p.Thr1180Ile) c.3854C>T (p.Thr1285Ile) n.8426C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475806C>A | CA432528572 | SETD5 | n.2999C>A c.4140C>A (p.Thr1380=) n.5033C>A n.2424C>A n.6286C>A c.4044C>A (p.Thr1348=) c.*4190C>A (n.*4190C>A) c.*4113C>A (n.*4113C>A) c.*4418C>A (n.*4418C>A) c.*4149C>A (n.*4149C>A) c.3750C>A (p.Thr1250=) c.2722+650C>A c.4101C>A (p.Thr1367=) c.3080C>A n.3385C>A n.4208C>A c.4218C>A (p.Thr1406=) c.4197C>A (p.Thr1399=) c.4179C>A (p.Thr1393=) c.4161C>A (p.Thr1387=) c.4122C>A (p.Thr1374=) c.4083C>A (p.Thr1361=) c.3807C>A (p.Thr1269=) c.3768C>A (p.Thr1256=) c.4158C>A (p.Thr1386=) c.4065C>A (p.Thr1355=) c.3540C>A (p.Thr1180=) c.3855C>A (p.Thr1285=) n.8427C>A | |
3 | g.9475806C>G | CA432528573 | SETD5 | n.2999C>G c.4140C>G (p.Thr1380=) n.5033C>G n.2424C>G n.6286C>G c.4044C>G (p.Thr1348=) c.*4190C>G (n.*4190C>G) c.*4113C>G (n.*4113C>G) c.*4418C>G (n.*4418C>G) c.*4149C>G (n.*4149C>G) c.3750C>G (p.Thr1250=) c.2722+650C>G c.4101C>G (p.Thr1367=) c.3080C>G n.3385C>G n.4208C>G c.4218C>G (p.Thr1406=) c.4197C>G (p.Thr1399=) c.4179C>G (p.Thr1393=) c.4161C>G (p.Thr1387=) c.4122C>G (p.Thr1374=) c.4083C>G (p.Thr1361=) c.3807C>G (p.Thr1269=) c.3768C>G (p.Thr1256=) c.4158C>G (p.Thr1386=) c.4065C>G (p.Thr1355=) c.3540C>G (p.Thr1180=) c.3855C>G (p.Thr1285=) n.8427C>G | |
3 | g.9475806C>T | CA432528574 | SETD5 | n.2999C>T c.4140C>T (p.Thr1380=) n.5033C>T n.2424C>T n.6286C>T c.4044C>T (p.Thr1348=) c.*4190C>T (n.*4190C>T) c.*4113C>T (n.*4113C>T) c.*4418C>T (n.*4418C>T) c.*4149C>T (n.*4149C>T) c.3750C>T (p.Thr1250=) c.2722+650C>T c.4101C>T (p.Thr1367=) c.3080C>T n.3385C>T n.4208C>T c.4218C>T (p.Thr1406=) c.4197C>T (p.Thr1399=) c.4179C>T (p.Thr1393=) c.4161C>T (p.Thr1387=) c.4122C>T (p.Thr1374=) c.4083C>T (p.Thr1361=) c.3807C>T (p.Thr1269=) c.3768C>T (p.Thr1256=) c.4158C>T (p.Thr1386=) c.4065C>T (p.Thr1355=) c.3540C>T (p.Thr1180=) c.3855C>T (p.Thr1285=) n.8427C>T | ClinVar |
3 | g.9475807C>A | CA351693912 | SETD5 | n.3000C>A c.4141C>A (p.Leu1381Met) n.5034C>A n.2425C>A n.6287C>A c.4045C>A (p.Leu1349Met) c.*4191C>A (n.*4191C>A) c.*4114C>A (n.*4114C>A) c.*4419C>A (n.*4419C>A) c.*4150C>A (n.*4150C>A) c.3751C>A (p.Leu1251Met) c.2722+651C>A c.4102C>A (p.Leu1368Met) c.3081C>A n.3386C>A n.4209C>A c.4219C>A (p.Leu1407Met) c.4198C>A (p.Leu1400Met) c.4180C>A (p.Leu1394Met) c.4162C>A (p.Leu1388Met) c.4123C>A (p.Leu1375Met) c.4084C>A (p.Leu1362Met) c.3808C>A (p.Leu1270Met) c.3769C>A (p.Leu1257Met) c.4159C>A (p.Leu1387Met) c.4066C>A (p.Leu1356Met) c.3541C>A (p.Leu1181Met) c.3856C>A (p.Leu1286Met) n.8428C>A | |
3 | g.9475807C>G | CA351693914 | SETD5 | n.3000C>G c.4141C>G (p.Leu1381Val) n.5034C>G n.2425C>G n.6287C>G c.4045C>G (p.Leu1349Val) c.*4191C>G (n.*4191C>G) c.*4114C>G (n.*4114C>G) c.*4419C>G (n.*4419C>G) c.*4150C>G (n.*4150C>G) c.3751C>G (p.Leu1251Val) c.2722+651C>G c.4102C>G (p.Leu1368Val) c.3081C>G n.3386C>G n.4209C>G c.4219C>G (p.Leu1407Val) c.4198C>G (p.Leu1400Val) c.4180C>G (p.Leu1394Val) c.4162C>G (p.Leu1388Val) c.4123C>G (p.Leu1375Val) c.4084C>G (p.Leu1362Val) c.3808C>G (p.Leu1270Val) c.3769C>G (p.Leu1257Val) c.4159C>G (p.Leu1387Val) c.4066C>G (p.Leu1356Val) c.3541C>G (p.Leu1181Val) c.3856C>G (p.Leu1286Val) n.8428C>G | |
3 | g.9475807C>T | CA432528575 | SETD5 | n.3000C>T c.4141C>T (p.Leu1381=) n.5034C>T n.2425C>T n.6287C>T c.4045C>T (p.Leu1349=) c.*4191C>T (n.*4191C>T) c.*4114C>T (n.*4114C>T) c.*4419C>T (n.*4419C>T) c.*4150C>T (n.*4150C>T) c.3751C>T (p.Leu1251=) c.2722+651C>T c.4102C>T (p.Leu1368=) c.3081C>T n.3386C>T n.4209C>T c.4219C>T (p.Leu1407=) c.4198C>T (p.Leu1400=) c.4180C>T (p.Leu1394=) c.4162C>T (p.Leu1388=) c.4123C>T (p.Leu1375=) c.4084C>T (p.Leu1362=) c.3808C>T (p.Leu1270=) c.3769C>T (p.Leu1257=) c.4159C>T (p.Leu1387=) c.4066C>T (p.Leu1356=) c.3541C>T (p.Leu1181=) c.3856C>T (p.Leu1286=) n.8428C>T | COSMIC COSMIC |
3 | g.9475808T>A | CA351693916 | SETD5 | n.3001T>A c.4142T>A (p.Leu1381Gln) n.5035T>A n.2426T>A n.6288T>A c.4046T>A (p.Leu1349Gln) c.*4192T>A (n.*4192T>A) c.*4115T>A (n.*4115T>A) c.*4420T>A (n.*4420T>A) c.*4151T>A (n.*4151T>A) c.3752T>A (p.Leu1251Gln) c.2722+652T>A c.4103T>A (p.Leu1368Gln) c.3082T>A n.3387T>A n.4210T>A c.4220T>A (p.Leu1407Gln) c.4199T>A (p.Leu1400Gln) c.4181T>A (p.Leu1394Gln) c.4163T>A (p.Leu1388Gln) c.4124T>A (p.Leu1375Gln) c.4085T>A (p.Leu1362Gln) c.3809T>A (p.Leu1270Gln) c.3770T>A (p.Leu1257Gln) c.4160T>A (p.Leu1387Gln) c.4067T>A (p.Leu1356Gln) c.3542T>A (p.Leu1181Gln) c.3857T>A (p.Leu1286Gln) n.8429T>A | dbSNP |
3 | g.9475808T>C | CA351693918 | SETD5 | n.3001T>C c.4142T>C (p.Leu1381Pro) n.5035T>C n.2426T>C n.6288T>C c.4046T>C (p.Leu1349Pro) c.*4192T>C (n.*4192T>C) c.*4115T>C (n.*4115T>C) c.*4420T>C (n.*4420T>C) c.*4151T>C (n.*4151T>C) c.3752T>C (p.Leu1251Pro) c.2722+652T>C c.4103T>C (p.Leu1368Pro) c.3082T>C n.3387T>C n.4210T>C c.4220T>C (p.Leu1407Pro) c.4199T>C (p.Leu1400Pro) c.4181T>C (p.Leu1394Pro) c.4163T>C (p.Leu1388Pro) c.4124T>C (p.Leu1375Pro) c.4085T>C (p.Leu1362Pro) c.3809T>C (p.Leu1270Pro) c.3770T>C (p.Leu1257Pro) c.4160T>C (p.Leu1387Pro) c.4067T>C (p.Leu1356Pro) c.3542T>C (p.Leu1181Pro) c.3857T>C (p.Leu1286Pro) n.8429T>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.9475808T>G | CA351693920 | SETD5 | n.3001T>G c.4142T>G (p.Leu1381Arg) n.5035T>G n.2426T>G n.6288T>G c.4046T>G (p.Leu1349Arg) c.*4192T>G (n.*4192T>G) c.*4115T>G (n.*4115T>G) c.*4420T>G (n.*4420T>G) c.*4151T>G (n.*4151T>G) c.3752T>G (p.Leu1251Arg) c.2722+652T>G c.4103T>G (p.Leu1368Arg) c.3082T>G n.3387T>G n.4210T>G c.4220T>G (p.Leu1407Arg) c.4199T>G (p.Leu1400Arg) c.4181T>G (p.Leu1394Arg) c.4163T>G (p.Leu1388Arg) c.4124T>G (p.Leu1375Arg) c.4085T>G (p.Leu1362Arg) c.3809T>G (p.Leu1270Arg) c.3770T>G (p.Leu1257Arg) c.4160T>G (p.Leu1387Arg) c.4067T>G (p.Leu1356Arg) c.3542T>G (p.Leu1181Arg) c.3857T>G (p.Leu1286Arg) n.8429T>G | |
3 | g.9475808T= | CA1344742807 | SETD5 | n.3001T= c.4142T= (p.Leu1381=) n.5035T= n.2426T= n.6288T= c.4046T= (p.Leu1349=) c.*4192T= (n.*4192T=) c.*4115T= (n.*4115T=) c.*4420T= (n.*4420T=) c.*4151T= (n.*4151T=) c.3752T= (p.Leu1251=) c.2722+652T= c.4103T= (p.Leu1368=) c.3082T= n.3387T= n.4210T= c.4220T= (p.Leu1407=) c.4199T= (p.Leu1400=) c.4181T= (p.Leu1394=) c.4163T= (p.Leu1388=) c.4124T= (p.Leu1375=) c.4085T= (p.Leu1362=) c.3809T= (p.Leu1270=) c.3770T= (p.Leu1257=) c.4160T= (p.Leu1387=) c.4067T= (p.Leu1356=) c.3542T= (p.Leu1181=) c.3857T= (p.Leu1286=) n.8429T= | |
3 | g.9475809G>A | CA432528578 | SETD5 | n.3002G>A c.4143G>A (p.Leu1381=) n.5036G>A n.2427G>A n.6289G>A c.4047G>A (p.Leu1349=) c.*4193G>A (n.*4193G>A) c.*4116G>A (n.*4116G>A) c.*4421G>A (n.*4421G>A) c.*4152G>A (n.*4152G>A) c.3753G>A (p.Leu1251=) c.2722+653G>A c.4104G>A (p.Leu1368=) c.3083G>A n.3388G>A n.4211G>A c.4221G>A (p.Leu1407=) c.4200G>A (p.Leu1400=) c.4182G>A (p.Leu1394=) c.4164G>A (p.Leu1388=) c.4125G>A (p.Leu1375=) c.4086G>A (p.Leu1362=) c.3810G>A (p.Leu1270=) c.3771G>A (p.Leu1257=) c.4161G>A (p.Leu1387=) c.4068G>A (p.Leu1356=) c.3543G>A (p.Leu1181=) c.3858G>A (p.Leu1286=) n.8430G>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.9475809G>C | CA432528579 | SETD5 | n.3002G>C c.4143G>C (p.Leu1381=) n.5036G>C n.2427G>C n.6289G>C c.4047G>C (p.Leu1349=) c.*4193G>C (n.*4193G>C) c.*4116G>C (n.*4116G>C) c.*4421G>C (n.*4421G>C) c.*4152G>C (n.*4152G>C) c.3753G>C (p.Leu1251=) c.2722+653G>C c.4104G>C (p.Leu1368=) c.3083G>C n.3388G>C n.4211G>C c.4221G>C (p.Leu1407=) c.4200G>C (p.Leu1400=) c.4182G>C (p.Leu1394=) c.4164G>C (p.Leu1388=) c.4125G>C (p.Leu1375=) c.4086G>C (p.Leu1362=) c.3810G>C (p.Leu1270=) c.3771G>C (p.Leu1257=) c.4161G>C (p.Leu1387=) c.4068G>C (p.Leu1356=) c.3543G>C (p.Leu1181=) c.3858G>C (p.Leu1286=) n.8430G>C | |
3 | g.9475809G= | CA1344742808 | SETD5 | n.3002G= c.4143G= (p.Leu1381=) n.5036G= n.2427G= n.6289G= c.4047G= (p.Leu1349=) c.*4193G= (n.*4193G=) c.*4116G= (n.*4116G=) c.*4421G= (n.*4421G=) c.*4152G= (n.*4152G=) c.3753G= (p.Leu1251=) c.2722+653G= c.4104G= (p.Leu1368=) c.3083G= n.3388G= n.4211G= c.4221G= (p.Leu1407=) c.4200G= (p.Leu1400=) c.4182G= (p.Leu1394=) c.4164G= (p.Leu1388=) c.4125G= (p.Leu1375=) c.4086G= (p.Leu1362=) c.3810G= (p.Leu1270=) c.3771G= (p.Leu1257=) c.4161G= (p.Leu1387=) c.4068G= (p.Leu1356=) c.3543G= (p.Leu1181=) c.3858G= (p.Leu1286=) n.8430G= | |
3 | g.9475809G>T | CA432528580 | SETD5 | n.3002G>T c.4143G>T (p.Leu1381=) n.5036G>T n.2427G>T n.6289G>T c.4047G>T (p.Leu1349=) c.*4193G>T (n.*4193G>T) c.*4116G>T (n.*4116G>T) c.*4421G>T (n.*4421G>T) c.*4152G>T (n.*4152G>T) c.3753G>T (p.Leu1251=) c.2722+653G>T c.4104G>T (p.Leu1368=) c.3083G>T n.3388G>T n.4211G>T c.4221G>T (p.Leu1407=) c.4200G>T (p.Leu1400=) c.4182G>T (p.Leu1394=) c.4164G>T (p.Leu1388=) c.4125G>T (p.Leu1375=) c.4086G>T (p.Leu1362=) c.3810G>T (p.Leu1270=) c.3771G>T (p.Leu1257=) c.4161G>T (p.Leu1387=) c.4068G>T (p.Leu1356=) c.3543G>T (p.Leu1181=) c.3858G>T (p.Leu1286=) n.8430G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.9475810C>A | CA351693922 | SETD5 | n.3003C>A c.4144C>A (p.Gln1382Lys) n.5037C>A n.2428C>A n.6290C>A c.4048C>A (p.Gln1350Lys) c.*4194C>A (n.*4194C>A) c.*4117C>A (n.*4117C>A) c.*4422C>A (n.*4422C>A) c.*4153C>A (n.*4153C>A) c.3754C>A (p.Gln1252Lys) c.2722+654C>A c.4105C>A (p.Gln1369Lys) c.3084C>A n.3389C>A n.4212C>A c.4222C>A (p.Gln1408Lys) c.4201C>A (p.Gln1401Lys) c.4183C>A (p.Gln1395Lys) c.4165C>A (p.Gln1389Lys) c.4126C>A (p.Gln1376Lys) c.4087C>A (p.Gln1363Lys) c.3811C>A (p.Gln1271Lys) c.3772C>A (p.Gln1258Lys) c.4162C>A (p.Gln1388Lys) c.4069C>A (p.Gln1357Lys) c.3544C>A (p.Gln1182Lys) c.3859C>A (p.Gln1287Lys) n.8431C>A | |
3 | g.9475810C>G | CA351693923 | SETD5 | n.3003C>G c.4144C>G (p.Gln1382Glu) n.5037C>G n.2428C>G n.6290C>G c.4048C>G (p.Gln1350Glu) c.*4194C>G (n.*4194C>G) c.*4117C>G (n.*4117C>G) c.*4422C>G (n.*4422C>G) c.*4153C>G (n.*4153C>G) c.3754C>G (p.Gln1252Glu) c.2722+654C>G c.4105C>G (p.Gln1369Glu) c.3084C>G n.3389C>G n.4212C>G c.4222C>G (p.Gln1408Glu) c.4201C>G (p.Gln1401Glu) c.4183C>G (p.Gln1395Glu) c.4165C>G (p.Gln1389Glu) c.4126C>G (p.Gln1376Glu) c.4087C>G (p.Gln1363Glu) c.3811C>G (p.Gln1271Glu) c.3772C>G (p.Gln1258Glu) c.4162C>G (p.Gln1388Glu) c.4069C>G (p.Gln1357Glu) c.3544C>G (p.Gln1182Glu) c.3859C>G (p.Gln1287Glu) n.8431C>G | |
3 | g.9475810C>T | CA351693924 | SETD5 | n.3003C>T c.4144C>T (p.Gln1382Ter) n.5037C>T n.2428C>T n.6290C>T c.4048C>T (p.Gln1350Ter) c.*4194C>T (n.*4194C>T) c.*4117C>T (n.*4117C>T) c.*4422C>T (n.*4422C>T) c.*4153C>T (n.*4153C>T) c.3754C>T (p.Gln1252Ter) c.2722+654C>T c.4105C>T (p.Gln1369Ter) c.3084C>T n.3389C>T n.4212C>T c.4222C>T (p.Gln1408Ter) c.4201C>T (p.Gln1401Ter) c.4183C>T (p.Gln1395Ter) c.4165C>T (p.Gln1389Ter) c.4126C>T (p.Gln1376Ter) c.4087C>T (p.Gln1363Ter) c.3811C>T (p.Gln1271Ter) c.3772C>T (p.Gln1258Ter) c.4162C>T (p.Gln1388Ter) c.4069C>T (p.Gln1357Ter) c.3544C>T (p.Gln1182Ter) c.3859C>T (p.Gln1287Ter) n.8431C>T | |
3 | g.9475811A>C | CA351693927 | SETD5 | n.3004A>C c.4145A>C (p.Gln1382Pro) n.5038A>C n.2429A>C n.6291A>C c.4049A>C (p.Gln1350Pro) c.*4195A>C (n.*4195A>C) c.*4118A>C (n.*4118A>C) c.*4423A>C (n.*4423A>C) c.*4154A>C (n.*4154A>C) c.3755A>C (p.Gln1252Pro) c.2722+655A>C c.4106A>C (p.Gln1369Pro) c.3085A>C n.3390A>C n.4213A>C c.4223A>C (p.Gln1408Pro) c.4202A>C (p.Gln1401Pro) c.4184A>C (p.Gln1395Pro) c.4166A>C (p.Gln1389Pro) c.4127A>C (p.Gln1376Pro) c.4088A>C (p.Gln1363Pro) c.3812A>C (p.Gln1271Pro) c.3773A>C (p.Gln1258Pro) c.4163A>C (p.Gln1388Pro) c.4070A>C (p.Gln1357Pro) c.3545A>C (p.Gln1182Pro) c.3860A>C (p.Gln1287Pro) n.8432A>C | |
3 | g.9475811A>G | CA351693928 | SETD5 | n.3004A>G c.4145A>G (p.Gln1382Arg) n.5038A>G n.2429A>G n.6291A>G c.4049A>G (p.Gln1350Arg) c.*4195A>G (n.*4195A>G) c.*4118A>G (n.*4118A>G) c.*4423A>G (n.*4423A>G) c.*4154A>G (n.*4154A>G) c.3755A>G (p.Gln1252Arg) c.2722+655A>G c.4106A>G (p.Gln1369Arg) c.3085A>G n.3390A>G n.4213A>G c.4223A>G (p.Gln1408Arg) c.4202A>G (p.Gln1401Arg) c.4184A>G (p.Gln1395Arg) c.4166A>G (p.Gln1389Arg) c.4127A>G (p.Gln1376Arg) c.4088A>G (p.Gln1363Arg) c.3812A>G (p.Gln1271Arg) c.3773A>G (p.Gln1258Arg) c.4163A>G (p.Gln1388Arg) c.4070A>G (p.Gln1357Arg) c.3545A>G (p.Gln1182Arg) c.3860A>G (p.Gln1287Arg) n.8432A>G | gnomAD v4 |
3 | g.9475811A>T | CA351693929 | SETD5 | n.3004A>T c.4145A>T (p.Gln1382Leu) n.5038A>T n.2429A>T n.6291A>T c.4049A>T (p.Gln1350Leu) c.*4195A>T (n.*4195A>T) c.*4118A>T (n.*4118A>T) c.*4423A>T (n.*4423A>T) c.*4154A>T (n.*4154A>T) c.3755A>T (p.Gln1252Leu) c.2722+655A>T c.4106A>T (p.Gln1369Leu) c.3085A>T n.3390A>T n.4213A>T c.4223A>T (p.Gln1408Leu) c.4202A>T (p.Gln1401Leu) c.4184A>T (p.Gln1395Leu) c.4166A>T (p.Gln1389Leu) c.4127A>T (p.Gln1376Leu) c.4088A>T (p.Gln1363Leu) c.3812A>T (p.Gln1271Leu) c.3773A>T (p.Gln1258Leu) c.4163A>T (p.Gln1388Leu) c.4070A>T (p.Gln1357Leu) c.3545A>T (p.Gln1182Leu) c.3860A>T (p.Gln1287Leu) n.8432A>T |