Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.9473306_9473307delCA16618013SETD5n.1736_1737del
c.3362_3363del (p.Ser1121CysfsTer16)
n.3770_3771del
n.835_836del
n.4341_4342del
n.4697_4698del
c.3266_3267del (p.Ser1089CysfsTer16)
c.*3412_*3413del (n.*3412_*3413del)
c.*3335_*3336del (n.*3335_*3336del)
c.*3640_*3641del (n.*3640_*3641del)
c.*3371_*3372del (n.*3371_*3372del)
c.2972_2973del (p.Ser991CysfsTer16)
c.2268_2269del
c.3323_3324del (p.Ser1108CysfsTer16)
c.2302_2303del
c.1257_1258del
n.2607_2608del
n.334_335del
n.71_72del
n.3430_3431del
c.3440_3441del (p.Ser1147CysfsTer16)
c.3419_3420del (p.Ser1140CysfsTer16)
c.3401_3402del (p.Ser1134CysfsTer16)
c.3383_3384del (p.Ser1128CysfsTer16)
c.3344_3345del (p.Ser1115CysfsTer16)
c.3305_3306del (p.Ser1102CysfsTer16)
c.3029_3030del (p.Ser1010CysfsTer16)
c.2990_2991del (p.Ser997CysfsTer16)
c.3380_3381del (p.Ser1127CysfsTer16)
c.3287_3288del (p.Ser1096CysfsTer16)
c.2762_2763del (p.Ser921CysfsTer16)
c.3077_3078del (p.Ser1026CysfsTer16)
n.7649_7650del
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
3g.9473306C>ACA351685197SETD5n.1736C>A
c.3362C>A (p.Ser1121Tyr)
n.3770C>A
n.835C>A
n.4341C>A
n.4697C>A
c.3266C>A (p.Ser1089Tyr)
c.*3412C>A (n.*3412C>A)
c.*3335C>A (n.*3335C>A)
c.*3640C>A (n.*3640C>A)
c.*3371C>A (n.*3371C>A)
c.2972C>A (p.Ser991Tyr)
c.2268C>A
c.3323C>A (p.Ser1108Tyr)
c.2302C>A
c.1257C>A
n.2607C>A
n.334C>A
n.71C>A
n.3430C>A
c.3440C>A (p.Ser1147Tyr)
c.3419C>A (p.Ser1140Tyr)
c.3401C>A (p.Ser1134Tyr)
c.3383C>A (p.Ser1128Tyr)
c.3344C>A (p.Ser1115Tyr)
c.3305C>A (p.Ser1102Tyr)
c.3029C>A (p.Ser1010Tyr)
c.2990C>A (p.Ser997Tyr)
c.3380C>A (p.Ser1127Tyr)
c.3287C>A (p.Ser1096Tyr)
c.2762C>A (p.Ser921Tyr)
c.3077C>A (p.Ser1026Tyr)
n.7649C>A
3g.9473306C=CA1344740105SETD5n.1736C=
c.3362C= (p.Ser1121=)
n.3770C=
n.835C=
n.4341C=
n.4697C=
c.3266C= (p.Ser1089=)
c.*3412C= (n.*3412C=)
c.*3335C= (n.*3335C=)
c.*3640C= (n.*3640C=)
c.*3371C= (n.*3371C=)
c.2972C= (p.Ser991=)
c.2268C=
c.3323C= (p.Ser1108=)
c.2302C=
c.1257C=
n.2607C=
n.334C=
n.71C=
n.3430C=
c.3440C= (p.Ser1147=)
c.3419C= (p.Ser1140=)
c.3401C= (p.Ser1134=)
c.3383C= (p.Ser1128=)
c.3344C= (p.Ser1115=)
c.3305C= (p.Ser1102=)
c.3029C= (p.Ser1010=)
c.2990C= (p.Ser997=)
c.3380C= (p.Ser1127=)
c.3287C= (p.Ser1096=)
c.2762C= (p.Ser921=)
c.3077C= (p.Ser1026=)
n.7649C=
3g.9473306C>GCA2239649SETD5n.1736C>G
c.3362C>G (p.Ser1121Cys)
n.3770C>G
n.835C>G
n.4341C>G
n.4697C>G
c.3266C>G (p.Ser1089Cys)
c.*3412C>G (n.*3412C>G)
c.*3335C>G (n.*3335C>G)
c.*3640C>G (n.*3640C>G)
c.*3371C>G (n.*3371C>G)
c.2972C>G (p.Ser991Cys)
c.2268C>G
c.3323C>G (p.Ser1108Cys)
c.2302C>G
c.1257C>G
n.2607C>G
n.334C>G
n.71C>G
n.3430C>G
c.3440C>G (p.Ser1147Cys)
c.3419C>G (p.Ser1140Cys)
c.3401C>G (p.Ser1134Cys)
c.3383C>G (p.Ser1128Cys)
c.3344C>G (p.Ser1115Cys)
c.3305C>G (p.Ser1102Cys)
c.3029C>G (p.Ser1010Cys)
c.2990C>G (p.Ser997Cys)
c.3380C>G (p.Ser1127Cys)
c.3287C>G (p.Ser1096Cys)
c.2762C>G (p.Ser921Cys)
c.3077C>G (p.Ser1026Cys)
n.7649C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.9473306C>TCA351685217SETD5n.1736C>T
c.3362C>T (p.Ser1121Phe)
n.3770C>T
n.835C>T
n.4341C>T
n.4697C>T
c.3266C>T (p.Ser1089Phe)
c.*3412C>T (n.*3412C>T)
c.*3335C>T (n.*3335C>T)
c.*3640C>T (n.*3640C>T)
c.*3371C>T (n.*3371C>T)
c.2972C>T (p.Ser991Phe)
c.2268C>T
c.3323C>T (p.Ser1108Phe)
c.2302C>T
c.1257C>T
n.2607C>T
n.334C>T
n.71C>T
n.3430C>T
c.3440C>T (p.Ser1147Phe)
c.3419C>T (p.Ser1140Phe)
c.3401C>T (p.Ser1134Phe)
c.3383C>T (p.Ser1128Phe)
c.3344C>T (p.Ser1115Phe)
c.3305C>T (p.Ser1102Phe)
c.3029C>T (p.Ser1010Phe)
c.2990C>T (p.Ser997Phe)
c.3380C>T (p.Ser1127Phe)
c.3287C>T (p.Ser1096Phe)
c.2762C>T (p.Ser921Phe)
c.3077C>T (p.Ser1026Phe)
n.7649C>T
3g.9473307T>ACA432365744SETD5n.1737T>A
c.3363T>A (p.Ser1121=)
n.3771T>A
n.836T>A
n.4342T>A
n.4698T>A
c.3267T>A (p.Ser1089=)
c.*3413T>A (n.*3413T>A)
c.*3336T>A (n.*3336T>A)
c.*3641T>A (n.*3641T>A)
c.*3372T>A (n.*3372T>A)
c.2973T>A (p.Ser991=)
c.2269T>A
c.3324T>A (p.Ser1108=)
c.2303T>A
c.1258T>A
n.2608T>A
n.335T>A
n.72T>A
n.3431T>A
c.3441T>A (p.Ser1147=)
c.3420T>A (p.Ser1140=)
c.3402T>A (p.Ser1134=)
c.3384T>A (p.Ser1128=)
c.3345T>A (p.Ser1115=)
c.3306T>A (p.Ser1102=)
c.3030T>A (p.Ser1010=)
c.2991T>A (p.Ser997=)
c.3381T>A (p.Ser1127=)
c.3288T>A (p.Ser1096=)
c.2763T>A (p.Ser921=)
c.3078T>A (p.Ser1026=)
n.7650T>A
3g.9473307T>CCA2239650SETD5n.1737T>C
c.3363T>C (p.Ser1121=)
n.3771T>C
n.836T>C
n.4342T>C
n.4698T>C
c.3267T>C (p.Ser1089=)
c.*3413T>C (n.*3413T>C)
c.*3336T>C (n.*3336T>C)
c.*3641T>C (n.*3641T>C)
c.*3372T>C (n.*3372T>C)
c.2973T>C (p.Ser991=)
c.2269T>C
c.3324T>C (p.Ser1108=)
c.2303T>C
c.1258T>C
n.2608T>C
n.335T>C
n.72T>C
n.3431T>C
c.3441T>C (p.Ser1147=)
c.3420T>C (p.Ser1140=)
c.3402T>C (p.Ser1134=)
c.3384T>C (p.Ser1128=)
c.3345T>C (p.Ser1115=)
c.3306T>C (p.Ser1102=)
c.3030T>C (p.Ser1010=)
c.2991T>C (p.Ser997=)
c.3381T>C (p.Ser1127=)
c.3288T>C (p.Ser1096=)
c.2763T>C (p.Ser921=)
c.3078T>C (p.Ser1026=)
n.7650T>C
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
3g.9473307T>GCA432365747SETD5n.1737T>G
c.3363T>G (p.Ser1121=)
n.3771T>G
n.836T>G
n.4342T>G
n.4698T>G
c.3267T>G (p.Ser1089=)
c.*3413T>G (n.*3413T>G)
c.*3336T>G (n.*3336T>G)
c.*3641T>G (n.*3641T>G)
c.*3372T>G (n.*3372T>G)
c.2973T>G (p.Ser991=)
c.2269T>G
c.3324T>G (p.Ser1108=)
c.2303T>G
c.1258T>G
n.2608T>G
n.335T>G
n.72T>G
n.3431T>G
c.3441T>G (p.Ser1147=)
c.3420T>G (p.Ser1140=)
c.3402T>G (p.Ser1134=)
c.3384T>G (p.Ser1128=)
c.3345T>G (p.Ser1115=)
c.3306T>G (p.Ser1102=)
c.3030T>G (p.Ser1010=)
c.2991T>G (p.Ser997=)
c.3381T>G (p.Ser1127=)
c.3288T>G (p.Ser1096=)
c.2763T>G (p.Ser921=)
c.3078T>G (p.Ser1026=)
n.7650T>G
3g.9473307T=CA1344740108SETD5n.1737T=
c.3363T= (p.Ser1121=)
n.3771T=
n.836T=
n.4342T=
n.4698T=
c.3267T= (p.Ser1089=)
c.*3413T= (n.*3413T=)
c.*3336T= (n.*3336T=)
c.*3641T= (n.*3641T=)
c.*3372T= (n.*3372T=)
c.2973T= (p.Ser991=)
c.2269T=
c.3324T= (p.Ser1108=)
c.2303T=
c.1258T=
n.2608T=
n.335T=
n.72T=
n.3431T=
c.3441T= (p.Ser1147=)
c.3420T= (p.Ser1140=)
c.3402T= (p.Ser1134=)
c.3384T= (p.Ser1128=)
c.3345T= (p.Ser1115=)
c.3306T= (p.Ser1102=)
c.3030T= (p.Ser1010=)
c.2991T= (p.Ser997=)
c.3381T= (p.Ser1127=)
c.3288T= (p.Ser1096=)
c.2763T= (p.Ser921=)
c.3078T= (p.Ser1026=)
n.7650T=
3g.9473308G>ACA2239651SETD5n.1738G>A
c.3364G>A (p.Ala1122Thr)
n.3772G>A
n.837G>A
n.4343G>A
n.4699G>A
c.3268G>A (p.Ala1090Thr)
c.*3414G>A (n.*3414G>A)
c.*3337G>A (n.*3337G>A)
c.*3642G>A (n.*3642G>A)
c.*3373G>A (n.*3373G>A)
c.2974G>A (p.Ala992Thr)
c.2270G>A
c.3325G>A (p.Ala1109Thr)
c.2304G>A
c.1259G>A
n.2609G>A
n.336G>A
n.73G>A
n.3432G>A
c.3442G>A (p.Ala1148Thr)
c.3421G>A (p.Ala1141Thr)
c.3403G>A (p.Ala1135Thr)
c.3385G>A (p.Ala1129Thr)
c.3346G>A (p.Ala1116Thr)
c.3307G>A (p.Ala1103Thr)
c.3031G>A (p.Ala1011Thr)
c.2992G>A (p.Ala998Thr)
c.3382G>A (p.Ala1128Thr)
c.3289G>A (p.Ala1097Thr)
c.2764G>A (p.Ala922Thr)
c.3079G>A (p.Ala1027Thr)
n.7651G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.9473308G>CCA351685234SETD5n.1738G>C
c.3364G>C (p.Ala1122Pro)
n.3772G>C
n.837G>C
n.4343G>C
n.4699G>C
c.3268G>C (p.Ala1090Pro)
c.*3414G>C (n.*3414G>C)
c.*3337G>C (n.*3337G>C)
c.*3642G>C (n.*3642G>C)
c.*3373G>C (n.*3373G>C)
c.2974G>C (p.Ala992Pro)
c.2270G>C
c.3325G>C (p.Ala1109Pro)
c.2304G>C
c.1259G>C
n.2609G>C
n.336G>C
n.73G>C
n.3432G>C
c.3442G>C (p.Ala1148Pro)
c.3421G>C (p.Ala1141Pro)
c.3403G>C (p.Ala1135Pro)
c.3385G>C (p.Ala1129Pro)
c.3346G>C (p.Ala1116Pro)
c.3307G>C (p.Ala1103Pro)
c.3031G>C (p.Ala1011Pro)
c.2992G>C (p.Ala998Pro)
c.3382G>C (p.Ala1128Pro)
c.3289G>C (p.Ala1097Pro)
c.2764G>C (p.Ala922Pro)
c.3079G>C (p.Ala1027Pro)
n.7651G>C
3g.9473308G=CA1344740113SETD5n.1738G=
c.3364G= (p.Ala1122=)
n.3772G=
n.837G=
n.4343G=
n.4699G=
c.3268G= (p.Ala1090=)
c.*3414G= (n.*3414G=)
c.*3337G= (n.*3337G=)
c.*3642G= (n.*3642G=)
c.*3373G= (n.*3373G=)
c.2974G= (p.Ala992=)
c.2270G=
c.3325G= (p.Ala1109=)
c.2304G=
c.1259G=
n.2609G=
n.336G=
n.73G=
n.3432G=
c.3442G= (p.Ala1148=)
c.3421G= (p.Ala1141=)
c.3403G= (p.Ala1135=)
c.3385G= (p.Ala1129=)
c.3346G= (p.Ala1116=)
c.3307G= (p.Ala1103=)
c.3031G= (p.Ala1011=)
c.2992G= (p.Ala998=)
c.3382G= (p.Ala1128=)
c.3289G= (p.Ala1097=)
c.2764G= (p.Ala922=)
c.3079G= (p.Ala1027=)
n.7651G=
3g.9473308G>TCA351685235SETD5n.1738G>T
c.3364G>T (p.Ala1122Ser)
n.3772G>T
n.837G>T
n.4343G>T
n.4699G>T
c.3268G>T (p.Ala1090Ser)
c.*3414G>T (n.*3414G>T)
c.*3337G>T (n.*3337G>T)
c.*3642G>T (n.*3642G>T)
c.*3373G>T (n.*3373G>T)
c.2974G>T (p.Ala992Ser)
c.2270G>T
c.3325G>T (p.Ala1109Ser)
c.2304G>T
c.1259G>T
n.2609G>T
n.336G>T
n.73G>T
n.3432G>T
c.3442G>T (p.Ala1148Ser)
c.3421G>T (p.Ala1141Ser)
c.3403G>T (p.Ala1135Ser)
c.3385G>T (p.Ala1129Ser)
c.3346G>T (p.Ala1116Ser)
c.3307G>T (p.Ala1103Ser)
c.3031G>T (p.Ala1011Ser)
c.2992G>T (p.Ala998Ser)
c.3382G>T (p.Ala1128Ser)
c.3289G>T (p.Ala1097Ser)
c.2764G>T (p.Ala922Ser)
c.3079G>T (p.Ala1027Ser)
n.7651G>T
3g.9473309C>ACA351685240SETD5n.1739C>A
c.3365C>A (p.Ala1122Glu)
n.3773C>A
n.838C>A
n.4344C>A
n.4700C>A
c.3269C>A (p.Ala1090Glu)
c.*3415C>A (n.*3415C>A)
c.*3338C>A (n.*3338C>A)
c.*3643C>A (n.*3643C>A)
c.*3374C>A (n.*3374C>A)
c.2975C>A (p.Ala992Glu)
c.2271C>A
c.3326C>A (p.Ala1109Glu)
c.2305C>A
c.1260C>A
n.2610C>A
n.337C>A
n.74C>A
n.3433C>A
c.3443C>A (p.Ala1148Glu)
c.3422C>A (p.Ala1141Glu)
c.3404C>A (p.Ala1135Glu)
c.3386C>A (p.Ala1129Glu)
c.3347C>A (p.Ala1116Glu)
c.3308C>A (p.Ala1103Glu)
c.3032C>A (p.Ala1011Glu)
c.2993C>A (p.Ala998Glu)
c.3383C>A (p.Ala1128Glu)
c.3290C>A (p.Ala1097Glu)
c.2765C>A (p.Ala922Glu)
c.3080C>A (p.Ala1027Glu)
n.7652C>A
3g.9473309C>GCA351685245SETD5n.1739C>G
c.3365C>G (p.Ala1122Gly)
n.3773C>G
n.838C>G
n.4344C>G
n.4700C>G
c.3269C>G (p.Ala1090Gly)
c.*3415C>G (n.*3415C>G)
c.*3338C>G (n.*3338C>G)
c.*3643C>G (n.*3643C>G)
c.*3374C>G (n.*3374C>G)
c.2975C>G (p.Ala992Gly)
c.2271C>G
c.3326C>G (p.Ala1109Gly)
c.2305C>G
c.1260C>G
n.2610C>G
n.337C>G
n.74C>G
n.3433C>G
c.3443C>G (p.Ala1148Gly)
c.3422C>G (p.Ala1141Gly)
c.3404C>G (p.Ala1135Gly)
c.3386C>G (p.Ala1129Gly)
c.3347C>G (p.Ala1116Gly)
c.3308C>G (p.Ala1103Gly)
c.3032C>G (p.Ala1011Gly)
c.2993C>G (p.Ala998Gly)
c.3383C>G (p.Ala1128Gly)
c.3290C>G (p.Ala1097Gly)
c.2765C>G (p.Ala922Gly)
c.3080C>G (p.Ala1027Gly)
n.7652C>G
3g.9473309C>TCA351685236SETD5n.1739C>T
c.3365C>T (p.Ala1122Val)
n.3773C>T
n.838C>T
n.4344C>T
n.4700C>T
c.3269C>T (p.Ala1090Val)
c.*3415C>T (n.*3415C>T)
c.*3338C>T (n.*3338C>T)
c.*3643C>T (n.*3643C>T)
c.*3374C>T (n.*3374C>T)
c.2975C>T (p.Ala992Val)
c.2271C>T
c.3326C>T (p.Ala1109Val)
c.2305C>T
c.1260C>T
n.2610C>T
n.337C>T
n.74C>T
n.3433C>T
c.3443C>T (p.Ala1148Val)
c.3422C>T (p.Ala1141Val)
c.3404C>T (p.Ala1135Val)
c.3386C>T (p.Ala1129Val)
c.3347C>T (p.Ala1116Val)
c.3308C>T (p.Ala1103Val)
c.3032C>T (p.Ala1011Val)
c.2993C>T (p.Ala998Val)
c.3383C>T (p.Ala1128Val)
c.3290C>T (p.Ala1097Val)
c.2765C>T (p.Ala922Val)
c.3080C>T (p.Ala1027Val)
n.7652C>T
3g.9473310A>CCA432365749SETD5n.1740A>C
c.3366A>C (p.Ala1122=)
n.3774A>C
n.839A>C
n.4345A>C
n.4701A>C
c.3270A>C (p.Ala1090=)
c.*3416A>C (n.*3416A>C)
c.*3339A>C (n.*3339A>C)
c.*3644A>C (n.*3644A>C)
c.*3375A>C (n.*3375A>C)
c.2976A>C (p.Ala992=)
c.2272A>C
c.3327A>C (p.Ala1109=)
c.2306A>C
c.1261A>C
n.2611A>C
n.338A>C
n.75A>C
n.3434A>C
c.3444A>C (p.Ala1148=)
c.3423A>C (p.Ala1141=)
c.3405A>C (p.Ala1135=)
c.3387A>C (p.Ala1129=)
c.3348A>C (p.Ala1116=)
c.3309A>C (p.Ala1103=)
c.3033A>C (p.Ala1011=)
c.2994A>C (p.Ala998=)
c.3384A>C (p.Ala1128=)
c.3291A>C (p.Ala1097=)
c.2766A>C (p.Ala922=)
c.3081A>C (p.Ala1027=)
n.7653A>C
3g.9473310A>GCA432365750SETD5n.1740A>G
c.3366A>G (p.Ala1122=)
n.3774A>G
n.839A>G
n.4345A>G
n.4701A>G
c.3270A>G (p.Ala1090=)
c.*3416A>G (n.*3416A>G)
c.*3339A>G (n.*3339A>G)
c.*3644A>G (n.*3644A>G)
c.*3375A>G (n.*3375A>G)
c.2976A>G (p.Ala992=)
c.2272A>G
c.3327A>G (p.Ala1109=)
c.2306A>G
c.1261A>G
n.2611A>G
n.338A>G
n.75A>G
n.3434A>G
c.3444A>G (p.Ala1148=)
c.3423A>G (p.Ala1141=)
c.3405A>G (p.Ala1135=)
c.3387A>G (p.Ala1129=)
c.3348A>G (p.Ala1116=)
c.3309A>G (p.Ala1103=)
c.3033A>G (p.Ala1011=)
c.2994A>G (p.Ala998=)
c.3384A>G (p.Ala1128=)
c.3291A>G (p.Ala1097=)
c.2766A>G (p.Ala922=)
c.3081A>G (p.Ala1027=)
n.7653A>G
 gnomAD v4
3g.9473310A>TCA432365751SETD5n.1740A>T
c.3366A>T (p.Ala1122=)
n.3774A>T
n.839A>T
n.4345A>T
n.4701A>T
c.3270A>T (p.Ala1090=)
c.*3416A>T (n.*3416A>T)
c.*3339A>T (n.*3339A>T)
c.*3644A>T (n.*3644A>T)
c.*3375A>T (n.*3375A>T)
c.2976A>T (p.Ala992=)
c.2272A>T
c.3327A>T (p.Ala1109=)
c.2306A>T
c.1261A>T
n.2611A>T
n.338A>T
n.75A>T
n.3434A>T
c.3444A>T (p.Ala1148=)
c.3423A>T (p.Ala1141=)
c.3405A>T (p.Ala1135=)
c.3387A>T (p.Ala1129=)
c.3348A>T (p.Ala1116=)
c.3309A>T (p.Ala1103=)
c.3033A>T (p.Ala1011=)
c.2994A>T (p.Ala998=)
c.3384A>T (p.Ala1128=)
c.3291A>T (p.Ala1097=)
c.2766A>T (p.Ala922=)
c.3081A>T (p.Ala1027=)
n.7653A>T
3g.9473311C>ACA351685249SETD5n.1741C>A
c.3367C>A (p.Gln1123Lys)
n.3775C>A
n.840C>A
n.4346C>A
n.4702C>A
c.3271C>A (p.Gln1091Lys)
c.*3417C>A (n.*3417C>A)
c.*3340C>A (n.*3340C>A)
c.*3645C>A (n.*3645C>A)
c.*3376C>A (n.*3376C>A)
c.2977C>A (p.Gln993Lys)
c.2273C>A
c.3328C>A (p.Gln1110Lys)
c.2307C>A
c.1262C>A
n.2612C>A
n.339C>A
n.76C>A
n.3435C>A
c.3445C>A (p.Gln1149Lys)
c.3424C>A (p.Gln1142Lys)
c.3406C>A (p.Gln1136Lys)
c.3388C>A (p.Gln1130Lys)
c.3349C>A (p.Gln1117Lys)
c.3310C>A (p.Gln1104Lys)
c.3034C>A (p.Gln1012Lys)
c.2995C>A (p.Gln999Lys)
c.3385C>A (p.Gln1129Lys)
c.3292C>A (p.Gln1098Lys)
c.2767C>A (p.Gln923Lys)
c.3082C>A (p.Gln1028Lys)
n.7654C>A
3g.9473311C>GCA351685256SETD5n.1741C>G
c.3367C>G (p.Gln1123Glu)
n.3775C>G
n.840C>G
n.4346C>G
n.4702C>G
c.3271C>G (p.Gln1091Glu)
c.*3417C>G (n.*3417C>G)
c.*3340C>G (n.*3340C>G)
c.*3645C>G (n.*3645C>G)
c.*3376C>G (n.*3376C>G)
c.2977C>G (p.Gln993Glu)
c.2273C>G
c.3328C>G (p.Gln1110Glu)
c.2307C>G
c.1262C>G
n.2612C>G
n.339C>G
n.76C>G
n.3435C>G
c.3445C>G (p.Gln1149Glu)
c.3424C>G (p.Gln1142Glu)
c.3406C>G (p.Gln1136Glu)
c.3388C>G (p.Gln1130Glu)
c.3349C>G (p.Gln1117Glu)
c.3310C>G (p.Gln1104Glu)
c.3034C>G (p.Gln1012Glu)
c.2995C>G (p.Gln999Glu)
c.3385C>G (p.Gln1129Glu)
c.3292C>G (p.Gln1098Glu)
c.2767C>G (p.Gln923Glu)
c.3082C>G (p.Gln1028Glu)
n.7654C>G
3g.9473311C>TCA351685259SETD5n.1741C>T
c.3367C>T (p.Gln1123Ter)
n.3775C>T
n.840C>T
n.4346C>T
n.4702C>T
c.3271C>T (p.Gln1091Ter)
c.*3417C>T (n.*3417C>T)
c.*3340C>T (n.*3340C>T)
c.*3645C>T (n.*3645C>T)
c.*3376C>T (n.*3376C>T)
c.2977C>T (p.Gln993Ter)
c.2273C>T
c.3328C>T (p.Gln1110Ter)
c.2307C>T
c.1262C>T
n.2612C>T
n.339C>T
n.76C>T
n.3435C>T
c.3445C>T (p.Gln1149Ter)
c.3424C>T (p.Gln1142Ter)
c.3406C>T (p.Gln1136Ter)
c.3388C>T (p.Gln1130Ter)
c.3349C>T (p.Gln1117Ter)
c.3310C>T (p.Gln1104Ter)
c.3034C>T (p.Gln1012Ter)
c.2995C>T (p.Gln999Ter)
c.3385C>T (p.Gln1129Ter)
c.3292C>T (p.Gln1098Ter)
c.2767C>T (p.Gln923Ter)
c.3082C>T (p.Gln1028Ter)
n.7654C>T
3g.9473312A=CA1344740116SETD5n.1742A=
c.3368A= (p.Gln1123=)
n.3776A=
n.841A=
n.4347A=
n.4703A=
c.3272A= (p.Gln1091=)
c.*3418A= (n.*3418A=)
c.*3341A= (n.*3341A=)
c.*3646A= (n.*3646A=)
c.*3377A= (n.*3377A=)
c.2978A= (p.Gln993=)
c.2274A=
c.3329A= (p.Gln1110=)
c.2308A=
c.1263A=
n.2613A=
n.340A=
n.77A=
n.3436A=
c.3446A= (p.Gln1149=)
c.3425A= (p.Gln1142=)
c.3407A= (p.Gln1136=)
c.3389A= (p.Gln1130=)
c.3350A= (p.Gln1117=)
c.3311A= (p.Gln1104=)
c.3035A= (p.Gln1012=)
c.2996A= (p.Gln999=)
c.3386A= (p.Gln1129=)
c.3293A= (p.Gln1098=)
c.2768A= (p.Gln923=)
c.3083A= (p.Gln1028=)
n.7655A=
3g.9473312A>CCA351685261SETD5n.1742A>C
c.3368A>C (p.Gln1123Pro)
n.3776A>C
n.841A>C
n.4347A>C
n.4703A>C
c.3272A>C (p.Gln1091Pro)
c.*3418A>C (n.*3418A>C)
c.*3341A>C (n.*3341A>C)
c.*3646A>C (n.*3646A>C)
c.*3377A>C (n.*3377A>C)
c.2978A>C (p.Gln993Pro)
c.2274A>C
c.3329A>C (p.Gln1110Pro)
c.2308A>C
c.1263A>C
n.2613A>C
n.340A>C
n.77A>C
n.3436A>C
c.3446A>C (p.Gln1149Pro)
c.3425A>C (p.Gln1142Pro)
c.3407A>C (p.Gln1136Pro)
c.3389A>C (p.Gln1130Pro)
c.3350A>C (p.Gln1117Pro)
c.3311A>C (p.Gln1104Pro)
c.3035A>C (p.Gln1012Pro)
c.2996A>C (p.Gln999Pro)
c.3386A>C (p.Gln1129Pro)
c.3293A>C (p.Gln1098Pro)
c.2768A>C (p.Gln923Pro)
c.3083A>C (p.Gln1028Pro)
n.7655A>C
 dbSNP gnomAD v2 gnomAD v4
3g.9473312A>GCA351685267SETD5n.1742A>G
c.3368A>G (p.Gln1123Arg)
n.3776A>G
n.841A>G
n.4347A>G
n.4703A>G
c.3272A>G (p.Gln1091Arg)
c.*3418A>G (n.*3418A>G)
c.*3341A>G (n.*3341A>G)
c.*3646A>G (n.*3646A>G)
c.*3377A>G (n.*3377A>G)
c.2978A>G (p.Gln993Arg)
c.2274A>G
c.3329A>G (p.Gln1110Arg)
c.2308A>G
c.1263A>G
n.2613A>G
n.340A>G
n.77A>G
n.3436A>G
c.3446A>G (p.Gln1149Arg)
c.3425A>G (p.Gln1142Arg)
c.3407A>G (p.Gln1136Arg)
c.3389A>G (p.Gln1130Arg)
c.3350A>G (p.Gln1117Arg)
c.3311A>G (p.Gln1104Arg)
c.3035A>G (p.Gln1012Arg)
c.2996A>G (p.Gln999Arg)
c.3386A>G (p.Gln1129Arg)
c.3293A>G (p.Gln1098Arg)
c.2768A>G (p.Gln923Arg)
c.3083A>G (p.Gln1028Arg)
n.7655A>G
3g.9473312A>TCA351685270SETD5n.1742A>T
c.3368A>T (p.Gln1123Leu)
n.3776A>T
n.841A>T
n.4347A>T
n.4703A>T
c.3272A>T (p.Gln1091Leu)
c.*3418A>T (n.*3418A>T)
c.*3341A>T (n.*3341A>T)
c.*3646A>T (n.*3646A>T)
c.*3377A>T (n.*3377A>T)
c.2978A>T (p.Gln993Leu)
c.2274A>T
c.3329A>T (p.Gln1110Leu)
c.2308A>T
c.1263A>T
n.2613A>T
n.340A>T
n.77A>T
n.3436A>T
c.3446A>T (p.Gln1149Leu)
c.3425A>T (p.Gln1142Leu)
c.3407A>T (p.Gln1136Leu)
c.3389A>T (p.Gln1130Leu)
c.3350A>T (p.Gln1117Leu)
c.3311A>T (p.Gln1104Leu)
c.3035A>T (p.Gln1012Leu)
c.2996A>T (p.Gln999Leu)
c.3386A>T (p.Gln1129Leu)
c.3293A>T (p.Gln1098Leu)
c.2768A>T (p.Gln923Leu)
c.3083A>T (p.Gln1028Leu)
n.7655A>T
3g.9473313G>ACA432365753SETD5n.1743G>A
c.3369G>A (p.Gln1123=)
n.3777G>A
n.842G>A
n.4348G>A
n.4704G>A
c.3273G>A (p.Gln1091=)
c.*3419G>A (n.*3419G>A)
c.*3342G>A (n.*3342G>A)
c.*3647G>A (n.*3647G>A)
c.*3378G>A (n.*3378G>A)
c.2979G>A (p.Gln993=)
c.2275G>A
c.3330G>A (p.Gln1110=)
c.2309G>A
c.1264G>A
n.2614G>A
n.341G>A
n.78G>A
n.3437G>A
c.3447G>A (p.Gln1149=)
c.3426G>A (p.Gln1142=)
c.3408G>A (p.Gln1136=)
c.3390G>A (p.Gln1130=)
c.3351G>A (p.Gln1117=)
c.3312G>A (p.Gln1104=)
c.3036G>A (p.Gln1012=)
c.2997G>A (p.Gln999=)
c.3387G>A (p.Gln1129=)
c.3294G>A (p.Gln1098=)
c.2769G>A (p.Gln923=)
c.3084G>A (p.Gln1028=)
n.7656G>A
 gnomAD v4
3g.9473313G>CCA351685280SETD5n.1743G>C
c.3369G>C (p.Gln1123His)
n.3777G>C
n.842G>C
n.4348G>C
n.4704G>C
c.3273G>C (p.Gln1091His)
c.*3419G>C (n.*3419G>C)
c.*3342G>C (n.*3342G>C)
c.*3647G>C (n.*3647G>C)
c.*3378G>C (n.*3378G>C)
c.2979G>C (p.Gln993His)
c.2275G>C
c.3330G>C (p.Gln1110His)
c.2309G>C
c.1264G>C
n.2614G>C
n.341G>C
n.78G>C
n.3437G>C
c.3447G>C (p.Gln1149His)
c.3426G>C (p.Gln1142His)
c.3408G>C (p.Gln1136His)
c.3390G>C (p.Gln1130His)
c.3351G>C (p.Gln1117His)
c.3312G>C (p.Gln1104His)
c.3036G>C (p.Gln1012His)
c.2997G>C (p.Gln999His)
c.3387G>C (p.Gln1129His)
c.3294G>C (p.Gln1098His)
c.2769G>C (p.Gln923His)
c.3084G>C (p.Gln1028His)
n.7656G>C
3g.9473313G>TCA351685274SETD5n.1743G>T
c.3369G>T (p.Gln1123His)
n.3777G>T
n.842G>T
n.4348G>T
n.4704G>T
c.3273G>T (p.Gln1091His)
c.*3419G>T (n.*3419G>T)
c.*3342G>T (n.*3342G>T)
c.*3647G>T (n.*3647G>T)
c.*3378G>T (n.*3378G>T)
c.2979G>T (p.Gln993His)
c.2275G>T
c.3330G>T (p.Gln1110His)
c.2309G>T
c.1264G>T
n.2614G>T
n.341G>T
n.78G>T
n.3437G>T
c.3447G>T (p.Gln1149His)
c.3426G>T (p.Gln1142His)
c.3408G>T (p.Gln1136His)
c.3390G>T (p.Gln1130His)
c.3351G>T (p.Gln1117His)
c.3312G>T (p.Gln1104His)
c.3036G>T (p.Gln1012His)
c.2997G>T (p.Gln999His)
c.3387G>T (p.Gln1129His)
c.3294G>T (p.Gln1098His)
c.2769G>T (p.Gln923His)
c.3084G>T (p.Gln1028His)
n.7656G>T
3g.9473314A>CCA351685283SETD5n.1744A>C
c.3370A>C (p.Ser1124Arg)
n.3778A>C
n.843A>C
n.4349A>C
n.4705A>C
c.3274A>C (p.Ser1092Arg)
c.*3420A>C (n.*3420A>C)
c.*3343A>C (n.*3343A>C)
c.*3648A>C (n.*3648A>C)
c.*3379A>C (n.*3379A>C)
c.2980A>C (p.Ser994Arg)
c.2276A>C
c.3331A>C (p.Ser1111Arg)
c.2310A>C
c.1265A>C
n.2615A>C
n.342A>C
n.79A>C
n.3438A>C
c.3448A>C (p.Ser1150Arg)
c.3427A>C (p.Ser1143Arg)
c.3409A>C (p.Ser1137Arg)
c.3391A>C (p.Ser1131Arg)
c.3352A>C (p.Ser1118Arg)
c.3313A>C (p.Ser1105Arg)
c.3037A>C (p.Ser1013Arg)
c.2998A>C (p.Ser1000Arg)
c.3388A>C (p.Ser1130Arg)
c.3295A>C (p.Ser1099Arg)
c.2770A>C (p.Ser924Arg)
c.3085A>C (p.Ser1029Arg)
n.7657A>C
3g.9473314A>GCA351685290SETD5n.1744A>G
c.3370A>G (p.Ser1124Gly)
n.3778A>G
n.843A>G
n.4349A>G
n.4705A>G
c.3274A>G (p.Ser1092Gly)
c.*3420A>G (n.*3420A>G)
c.*3343A>G (n.*3343A>G)
c.*3648A>G (n.*3648A>G)
c.*3379A>G (n.*3379A>G)
c.2980A>G (p.Ser994Gly)
c.2276A>G
c.3331A>G (p.Ser1111Gly)
c.2310A>G
c.1265A>G
n.2615A>G
n.342A>G
n.79A>G
n.3438A>G
c.3448A>G (p.Ser1150Gly)
c.3427A>G (p.Ser1143Gly)
c.3409A>G (p.Ser1137Gly)
c.3391A>G (p.Ser1131Gly)
c.3352A>G (p.Ser1118Gly)
c.3313A>G (p.Ser1105Gly)
c.3037A>G (p.Ser1013Gly)
c.2998A>G (p.Ser1000Gly)
c.3388A>G (p.Ser1130Gly)
c.3295A>G (p.Ser1099Gly)
c.2770A>G (p.Ser924Gly)
c.3085A>G (p.Ser1029Gly)
n.7657A>G
3g.9473314A>TCA351685295SETD5n.1744A>T
c.3370A>T (p.Ser1124Cys)
n.3778A>T
n.843A>T
n.4349A>T
n.4705A>T
c.3274A>T (p.Ser1092Cys)
c.*3420A>T (n.*3420A>T)
c.*3343A>T (n.*3343A>T)
c.*3648A>T (n.*3648A>T)
c.*3379A>T (n.*3379A>T)
c.2980A>T (p.Ser994Cys)
c.2276A>T
c.3331A>T (p.Ser1111Cys)
c.2310A>T
c.1265A>T
n.2615A>T
n.342A>T
n.79A>T
n.3438A>T
c.3448A>T (p.Ser1150Cys)
c.3427A>T (p.Ser1143Cys)
c.3409A>T (p.Ser1137Cys)
c.3391A>T (p.Ser1131Cys)
c.3352A>T (p.Ser1118Cys)
c.3313A>T (p.Ser1105Cys)
c.3037A>T (p.Ser1013Cys)
c.2998A>T (p.Ser1000Cys)
c.3388A>T (p.Ser1130Cys)
c.3295A>T (p.Ser1099Cys)
c.2770A>T (p.Ser924Cys)
c.3085A>T (p.Ser1029Cys)
n.7657A>T
3g.9473315G>ACA2239652SETD5n.1745G>A
c.3371G>A (p.Ser1124Asn)
n.3779G>A
n.844G>A
n.4350G>A
n.4706G>A
c.3275G>A (p.Ser1092Asn)
c.*3421G>A (n.*3421G>A)
c.*3344G>A (n.*3344G>A)
c.*3649G>A (n.*3649G>A)
c.*3380G>A (n.*3380G>A)
c.2981G>A (p.Ser994Asn)
c.2277G>A
c.3332G>A (p.Ser1111Asn)
c.2311G>A
c.1266G>A
n.2616G>A
n.343G>A
n.80G>A
n.3439G>A
c.3449G>A (p.Ser1150Asn)
c.3428G>A (p.Ser1143Asn)
c.3410G>A (p.Ser1137Asn)
c.3392G>A (p.Ser1131Asn)
c.3353G>A (p.Ser1118Asn)
c.3314G>A (p.Ser1105Asn)
c.3038G>A (p.Ser1013Asn)
c.2999G>A (p.Ser1000Asn)
c.3389G>A (p.Ser1130Asn)
c.3296G>A (p.Ser1099Asn)
c.2771G>A (p.Ser924Asn)
c.3086G>A (p.Ser1029Asn)
n.7658G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9473315G>CCA351685301SETD5n.1745G>C
c.3371G>C (p.Ser1124Thr)
n.3779G>C
n.844G>C
n.4350G>C
n.4706G>C
c.3275G>C (p.Ser1092Thr)
c.*3421G>C (n.*3421G>C)
c.*3344G>C (n.*3344G>C)
c.*3649G>C (n.*3649G>C)
c.*3380G>C (n.*3380G>C)
c.2981G>C (p.Ser994Thr)
c.2277G>C
c.3332G>C (p.Ser1111Thr)
c.2311G>C
c.1266G>C
n.2616G>C
n.343G>C
n.80G>C
n.3439G>C
c.3449G>C (p.Ser1150Thr)
c.3428G>C (p.Ser1143Thr)
c.3410G>C (p.Ser1137Thr)
c.3392G>C (p.Ser1131Thr)
c.3353G>C (p.Ser1118Thr)
c.3314G>C (p.Ser1105Thr)
c.3038G>C (p.Ser1013Thr)
c.2999G>C (p.Ser1000Thr)
c.3389G>C (p.Ser1130Thr)
c.3296G>C (p.Ser1099Thr)
c.2771G>C (p.Ser924Thr)
c.3086G>C (p.Ser1029Thr)
n.7658G>C
3g.9473315G=CA1344740119SETD5n.1745G=
c.3371G= (p.Ser1124=)
n.3779G=
n.844G=
n.4350G=
n.4706G=
c.3275G= (p.Ser1092=)
c.*3421G= (n.*3421G=)
c.*3344G= (n.*3344G=)
c.*3649G= (n.*3649G=)
c.*3380G= (n.*3380G=)
c.2981G= (p.Ser994=)
c.2277G=
c.3332G= (p.Ser1111=)
c.2311G=
c.1266G=
n.2616G=
n.343G=
n.80G=
n.3439G=
c.3449G= (p.Ser1150=)
c.3428G= (p.Ser1143=)
c.3410G= (p.Ser1137=)
c.3392G= (p.Ser1131=)
c.3353G= (p.Ser1118=)
c.3314G= (p.Ser1105=)
c.3038G= (p.Ser1013=)
c.2999G= (p.Ser1000=)
c.3389G= (p.Ser1130=)
c.3296G= (p.Ser1099=)
c.2771G= (p.Ser924=)
c.3086G= (p.Ser1029=)
n.7658G=
3g.9473315G>TCA351685305SETD5n.1745G>T
c.3371G>T (p.Ser1124Ile)
n.3779G>T
n.844G>T
n.4350G>T
n.4706G>T
c.3275G>T (p.Ser1092Ile)
c.*3421G>T (n.*3421G>T)
c.*3344G>T (n.*3344G>T)
c.*3649G>T (n.*3649G>T)
c.*3380G>T (n.*3380G>T)
c.2981G>T (p.Ser994Ile)
c.2277G>T
c.3332G>T (p.Ser1111Ile)
c.2311G>T
c.1266G>T
n.2616G>T
n.343G>T
n.80G>T
n.3439G>T
c.3449G>T (p.Ser1150Ile)
c.3428G>T (p.Ser1143Ile)
c.3410G>T (p.Ser1137Ile)
c.3392G>T (p.Ser1131Ile)
c.3353G>T (p.Ser1118Ile)
c.3314G>T (p.Ser1105Ile)
c.3038G>T (p.Ser1013Ile)
c.2999G>T (p.Ser1000Ile)
c.3389G>T (p.Ser1130Ile)
c.3296G>T (p.Ser1099Ile)
c.2771G>T (p.Ser924Ile)
c.3086G>T (p.Ser1029Ile)
n.7658G>T
3g.9473316C>ACA351685309SETD5n.1746C>A
c.3372C>A (p.Ser1124Arg)
n.3780C>A
n.845C>A
n.4351C>A
n.4707C>A
c.3276C>A (p.Ser1092Arg)
c.*3422C>A (n.*3422C>A)
c.*3345C>A (n.*3345C>A)
c.*3650C>A (n.*3650C>A)
c.*3381C>A (n.*3381C>A)
c.2982C>A (p.Ser994Arg)
c.2278C>A
c.3333C>A (p.Ser1111Arg)
c.2312C>A
c.1267C>A
n.2617C>A
n.344C>A
n.81C>A
n.3440C>A
c.3450C>A (p.Ser1150Arg)
c.3429C>A (p.Ser1143Arg)
c.3411C>A (p.Ser1137Arg)
c.3393C>A (p.Ser1131Arg)
c.3354C>A (p.Ser1118Arg)
c.3315C>A (p.Ser1105Arg)
c.3039C>A (p.Ser1013Arg)
c.3000C>A (p.Ser1000Arg)
c.3390C>A (p.Ser1130Arg)
c.3297C>A (p.Ser1099Arg)
c.2772C>A (p.Ser924Arg)
c.3087C>A (p.Ser1029Arg)
n.7659C>A
3g.9473316C=CA1344740125SETD5n.1746C=
c.3372C= (p.Ser1124=)
n.3780C=
n.845C=
n.4351C=
n.4707C=
c.3276C= (p.Ser1092=)
c.*3422C= (n.*3422C=)
c.*3345C= (n.*3345C=)
c.*3650C= (n.*3650C=)
c.*3381C= (n.*3381C=)
c.2982C= (p.Ser994=)
c.2278C=
c.3333C= (p.Ser1111=)
c.2312C=
c.1267C=
n.2617C=
n.344C=
n.81C=
n.3440C=
c.3450C= (p.Ser1150=)
c.3429C= (p.Ser1143=)
c.3411C= (p.Ser1137=)
c.3393C= (p.Ser1131=)
c.3354C= (p.Ser1118=)
c.3315C= (p.Ser1105=)
c.3039C= (p.Ser1013=)
c.3000C= (p.Ser1000=)
c.3390C= (p.Ser1130=)
c.3297C= (p.Ser1099=)
c.2772C= (p.Ser924=)
c.3087C= (p.Ser1029=)
n.7659C=
3g.9473316C>GCA351685312SETD5n.1746C>G
c.3372C>G (p.Ser1124Arg)
n.3780C>G
n.845C>G
n.4351C>G
n.4707C>G
c.3276C>G (p.Ser1092Arg)
c.*3422C>G (n.*3422C>G)
c.*3345C>G (n.*3345C>G)
c.*3650C>G (n.*3650C>G)
c.*3381C>G (n.*3381C>G)
c.2982C>G (p.Ser994Arg)
c.2278C>G
c.3333C>G (p.Ser1111Arg)
c.2312C>G
c.1267C>G
n.2617C>G
n.344C>G
n.81C>G
n.3440C>G
c.3450C>G (p.Ser1150Arg)
c.3429C>G (p.Ser1143Arg)
c.3411C>G (p.Ser1137Arg)
c.3393C>G (p.Ser1131Arg)
c.3354C>G (p.Ser1118Arg)
c.3315C>G (p.Ser1105Arg)
c.3039C>G (p.Ser1013Arg)
c.3000C>G (p.Ser1000Arg)
c.3390C>G (p.Ser1130Arg)
c.3297C>G (p.Ser1099Arg)
c.2772C>G (p.Ser924Arg)
c.3087C>G (p.Ser1029Arg)
n.7659C>G
 ClinVar
3g.9473316C>TCA2239653SETD5n.1746C>T
c.3372C>T (p.Ser1124=)
n.3780C>T
n.845C>T
n.4351C>T
n.4707C>T
c.3276C>T (p.Ser1092=)
c.*3422C>T (n.*3422C>T)
c.*3345C>T (n.*3345C>T)
c.*3650C>T (n.*3650C>T)
c.*3381C>T (n.*3381C>T)
c.2982C>T (p.Ser994=)
c.2278C>T
c.3333C>T (p.Ser1111=)
c.2312C>T
c.1267C>T
n.2617C>T
n.344C>T
n.81C>T
n.3440C>T
c.3450C>T (p.Ser1150=)
c.3429C>T (p.Ser1143=)
c.3411C>T (p.Ser1137=)
c.3393C>T (p.Ser1131=)
c.3354C>T (p.Ser1118=)
c.3315C>T (p.Ser1105=)
c.3039C>T (p.Ser1013=)
c.3000C>T (p.Ser1000=)
c.3390C>T (p.Ser1130=)
c.3297C>T (p.Ser1099=)
c.2772C>T (p.Ser924=)
c.3087C>T (p.Ser1029=)
n.7659C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9473317A=CA1344740131SETD5n.1747A=
c.3373A= (p.Lys1125=)
n.3781A=
n.846A=
n.4352A=
n.4708A=
c.3277A= (p.Lys1093=)
c.*3423A= (n.*3423A=)
c.*3346A= (n.*3346A=)
c.*3651A= (n.*3651A=)
c.*3382A= (n.*3382A=)
c.2983A= (p.Lys995=)
c.2279A=
c.3334A= (p.Lys1112=)
c.2313A=
c.1268A=
n.2618A=
n.345A=
n.82A=
n.3441A=
c.3451A= (p.Lys1151=)
c.3430A= (p.Lys1144=)
c.3412A= (p.Lys1138=)
c.3394A= (p.Lys1132=)
c.3355A= (p.Lys1119=)
c.3316A= (p.Lys1106=)
c.3040A= (p.Lys1014=)
c.3001A= (p.Lys1001=)
c.3391A= (p.Lys1131=)
c.3298A= (p.Lys1100=)
c.2773A= (p.Lys925=)
c.3088A= (p.Lys1030=)
n.7660A=
3g.9473317A>CCA351685315SETD5n.1747A>C
c.3373A>C (p.Lys1125Gln)
n.3781A>C
n.846A>C
n.4352A>C
n.4708A>C
c.3277A>C (p.Lys1093Gln)
c.*3423A>C (n.*3423A>C)
c.*3346A>C (n.*3346A>C)
c.*3651A>C (n.*3651A>C)
c.*3382A>C (n.*3382A>C)
c.2983A>C (p.Lys995Gln)
c.2279A>C
c.3334A>C (p.Lys1112Gln)
c.2313A>C
c.1268A>C
n.2618A>C
n.345A>C
n.82A>C
n.3441A>C
c.3451A>C (p.Lys1151Gln)
c.3430A>C (p.Lys1144Gln)
c.3412A>C (p.Lys1138Gln)
c.3394A>C (p.Lys1132Gln)
c.3355A>C (p.Lys1119Gln)
c.3316A>C (p.Lys1106Gln)
c.3040A>C (p.Lys1014Gln)
c.3001A>C (p.Lys1001Gln)
c.3391A>C (p.Lys1131Gln)
c.3298A>C (p.Lys1100Gln)
c.2773A>C (p.Lys925Gln)
c.3088A>C (p.Lys1030Gln)
n.7660A>C
3g.9473317A>GCA351685318SETD5n.1747A>G
c.3373A>G (p.Lys1125Glu)
n.3781A>G
n.846A>G
n.4352A>G
n.4708A>G
c.3277A>G (p.Lys1093Glu)
c.*3423A>G (n.*3423A>G)
c.*3346A>G (n.*3346A>G)
c.*3651A>G (n.*3651A>G)
c.*3382A>G (n.*3382A>G)
c.2983A>G (p.Lys995Glu)
c.2279A>G
c.3334A>G (p.Lys1112Glu)
c.2313A>G
c.1268A>G
n.2618A>G
n.345A>G
n.82A>G
n.3441A>G
c.3451A>G (p.Lys1151Glu)
c.3430A>G (p.Lys1144Glu)
c.3412A>G (p.Lys1138Glu)
c.3394A>G (p.Lys1132Glu)
c.3355A>G (p.Lys1119Glu)
c.3316A>G (p.Lys1106Glu)
c.3040A>G (p.Lys1014Glu)
c.3001A>G (p.Lys1001Glu)
c.3391A>G (p.Lys1131Glu)
c.3298A>G (p.Lys1100Glu)
c.2773A>G (p.Lys925Glu)
c.3088A>G (p.Lys1030Glu)
n.7660A>G
3g.9473317A>TCA16618014SETD5n.1747A>T
c.3373A>T (p.Lys1125Ter)
n.3781A>T
n.846A>T
n.4352A>T
n.4708A>T
c.3277A>T (p.Lys1093Ter)
c.*3423A>T (n.*3423A>T)
c.*3346A>T (n.*3346A>T)
c.*3651A>T (n.*3651A>T)
c.*3382A>T (n.*3382A>T)
c.2983A>T (p.Lys995Ter)
c.2279A>T
c.3334A>T (p.Lys1112Ter)
c.2313A>T
c.1268A>T
n.2618A>T
n.345A>T
n.82A>T
n.3441A>T
c.3451A>T (p.Lys1151Ter)
c.3430A>T (p.Lys1144Ter)
c.3412A>T (p.Lys1138Ter)
c.3394A>T (p.Lys1132Ter)
c.3355A>T (p.Lys1119Ter)
c.3316A>T (p.Lys1106Ter)
c.3040A>T (p.Lys1014Ter)
c.3001A>T (p.Lys1001Ter)
c.3391A>T (p.Lys1131Ter)
c.3298A>T (p.Lys1100Ter)
c.2773A>T (p.Lys925Ter)
c.3088A>T (p.Lys1030Ter)
n.7660A>T
 ClinVar dbSNP
3g.9473318A>CCA351685327SETD5n.1748A>C
c.3374A>C (p.Lys1125Thr)
n.3782A>C
n.847A>C
n.4353A>C
n.4709A>C
c.3278A>C (p.Lys1093Thr)
c.*3424A>C (n.*3424A>C)
c.*3347A>C (n.*3347A>C)
c.*3652A>C (n.*3652A>C)
c.*3383A>C (n.*3383A>C)
c.2984A>C (p.Lys995Thr)
c.2280A>C
c.3335A>C (p.Lys1112Thr)
c.2314A>C
c.1269A>C
n.2619A>C
n.346A>C
n.83A>C
n.3442A>C
c.3452A>C (p.Lys1151Thr)
c.3431A>C (p.Lys1144Thr)
c.3413A>C (p.Lys1138Thr)
c.3395A>C (p.Lys1132Thr)
c.3356A>C (p.Lys1119Thr)
c.3317A>C (p.Lys1106Thr)
c.3041A>C (p.Lys1014Thr)
c.3002A>C (p.Lys1001Thr)
c.3392A>C (p.Lys1131Thr)
c.3299A>C (p.Lys1100Thr)
c.2774A>C (p.Lys925Thr)
c.3089A>C (p.Lys1030Thr)
n.7661A>C
3g.9473318A>GCA351685328SETD5n.1748A>G
c.3374A>G (p.Lys1125Arg)
n.3782A>G
n.847A>G
n.4353A>G
n.4709A>G
c.3278A>G (p.Lys1093Arg)
c.*3424A>G (n.*3424A>G)
c.*3347A>G (n.*3347A>G)
c.*3652A>G (n.*3652A>G)
c.*3383A>G (n.*3383A>G)
c.2984A>G (p.Lys995Arg)
c.2280A>G
c.3335A>G (p.Lys1112Arg)
c.2314A>G
c.1269A>G
n.2619A>G
n.346A>G
n.83A>G
n.3442A>G
c.3452A>G (p.Lys1151Arg)
c.3431A>G (p.Lys1144Arg)
c.3413A>G (p.Lys1138Arg)
c.3395A>G (p.Lys1132Arg)
c.3356A>G (p.Lys1119Arg)
c.3317A>G (p.Lys1106Arg)
c.3041A>G (p.Lys1014Arg)
c.3002A>G (p.Lys1001Arg)
c.3392A>G (p.Lys1131Arg)
c.3299A>G (p.Lys1100Arg)
c.2774A>G (p.Lys925Arg)
c.3089A>G (p.Lys1030Arg)
n.7661A>G
3g.9473318A>TCA351685329SETD5n.1748A>T
c.3374A>T (p.Lys1125Ile)
n.3782A>T
n.847A>T
n.4353A>T
n.4709A>T
c.3278A>T (p.Lys1093Ile)
c.*3424A>T (n.*3424A>T)
c.*3347A>T (n.*3347A>T)
c.*3652A>T (n.*3652A>T)
c.*3383A>T (n.*3383A>T)
c.2984A>T (p.Lys995Ile)
c.2280A>T
c.3335A>T (p.Lys1112Ile)
c.2314A>T
c.1269A>T
n.2619A>T
n.346A>T
n.83A>T
n.3442A>T
c.3452A>T (p.Lys1151Ile)
c.3431A>T (p.Lys1144Ile)
c.3413A>T (p.Lys1138Ile)
c.3395A>T (p.Lys1132Ile)
c.3356A>T (p.Lys1119Ile)
c.3317A>T (p.Lys1106Ile)
c.3041A>T (p.Lys1014Ile)
c.3002A>T (p.Lys1001Ile)
c.3392A>T (p.Lys1131Ile)
c.3299A>T (p.Lys1100Ile)
c.2774A>T (p.Lys925Ile)
c.3089A>T (p.Lys1030Ile)
n.7661A>T
3g.9473319A=CA1344740135SETD5n.1749A=
c.3375A= (p.Lys1125=)
n.3783A=
n.848A=
n.4354A=
n.4710A=
c.3279A= (p.Lys1093=)
c.*3425A= (n.*3425A=)
c.*3348A= (n.*3348A=)
c.*3653A= (n.*3653A=)
c.*3384A= (n.*3384A=)
c.2985A= (p.Lys995=)
c.2281A=
c.3336A= (p.Lys1112=)
c.2315A=
c.1270A=
n.2620A=
n.347A=
n.84A=
n.3443A=
c.3453A= (p.Lys1151=)
c.3432A= (p.Lys1144=)
c.3414A= (p.Lys1138=)
c.3396A= (p.Lys1132=)
c.3357A= (p.Lys1119=)
c.3318A= (p.Lys1106=)
c.3042A= (p.Lys1014=)
c.3003A= (p.Lys1001=)
c.3393A= (p.Lys1131=)
c.3300A= (p.Lys1100=)
c.2775A= (p.Lys925=)
c.3090A= (p.Lys1030=)
n.7662A=
3g.9473319A>CCA69951057SETD5n.1749A>C
c.3375A>C (p.Lys1125Asn)
n.3783A>C
n.848A>C
n.4354A>C
n.4710A>C
c.3279A>C (p.Lys1093Asn)
c.*3425A>C (n.*3425A>C)
c.*3348A>C (n.*3348A>C)
c.*3653A>C (n.*3653A>C)
c.*3384A>C (n.*3384A>C)
c.2985A>C (p.Lys995Asn)
c.2281A>C
c.3336A>C (p.Lys1112Asn)
c.2315A>C
c.1270A>C
n.2620A>C
n.347A>C
n.84A>C
n.3443A>C
c.3453A>C (p.Lys1151Asn)
c.3432A>C (p.Lys1144Asn)
c.3414A>C (p.Lys1138Asn)
c.3396A>C (p.Lys1132Asn)
c.3357A>C (p.Lys1119Asn)
c.3318A>C (p.Lys1106Asn)
c.3042A>C (p.Lys1014Asn)
c.3003A>C (p.Lys1001Asn)
c.3393A>C (p.Lys1131Asn)
c.3300A>C (p.Lys1100Asn)
c.2775A>C (p.Lys925Asn)
c.3090A>C (p.Lys1030Asn)
n.7662A>C
 ClinVar dbSNP gnomAD v4
3g.9473319A>GCA432365754SETD5n.1749A>G
c.3375A>G (p.Lys1125=)
n.3783A>G
n.848A>G
n.4354A>G
n.4710A>G
c.3279A>G (p.Lys1093=)
c.*3425A>G (n.*3425A>G)
c.*3348A>G (n.*3348A>G)
c.*3653A>G (n.*3653A>G)
c.*3384A>G (n.*3384A>G)
c.2985A>G (p.Lys995=)
c.2281A>G
c.3336A>G (p.Lys1112=)
c.2315A>G
c.1270A>G
n.2620A>G
n.347A>G
n.84A>G
n.3443A>G
c.3453A>G (p.Lys1151=)
c.3432A>G (p.Lys1144=)
c.3414A>G (p.Lys1138=)
c.3396A>G (p.Lys1132=)
c.3357A>G (p.Lys1119=)
c.3318A>G (p.Lys1106=)
c.3042A>G (p.Lys1014=)
c.3003A>G (p.Lys1001=)
c.3393A>G (p.Lys1131=)
c.3300A>G (p.Lys1100=)
c.2775A>G (p.Lys925=)
c.3090A>G (p.Lys1030=)
n.7662A>G

Number of alleles fetched