| 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 |