Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.47121389_47121414delinsTTTCTTCCATGGGCAAAGTAGAATTCCA1362408303SETD2c.3090_3115delinsGAATTCTACTTTGCCCATGGAAGAAA (p.Lys1030=)
c.3123_3148delinsGAATTCTACTTTGCCCATGGAAGAAA (p.Lys1041=)
c.1102_1127delinsGAATTCTACTTTGCCCATGGAAGAAA
c.1163_1188delinsGAATTCTACTTTGCCCATGGAAGAAA
c.238_263delinsGAATTCTACTTTGCCCATGGAAGAAA
c.1386_1411delinsGAATTCTACTTTGCCCATGGAAGAAA (p.Lys462=)
c.72-23333_72-23308delinsGAATTCTACTTTGCCCATGGAAGAAA (n.72-23333_72-23308delinsGAATTCTACTTTGCCCATGGAAGAAA)
c.3222_3247delinsGAATTCTACTTTGCCCATGGAAGAAA (p.Lys1074=)
c.2837_2862delinsGAATTCTACTTTGCCCATGGAAGAAA
c.2374_2399delinsGAATTCTACTTTGCCCATGGAAGAAA
c.2122_2147delinsGAATTCTACTTTGCCCATGGAAGAAA
c.3300_3325delinsGAATTCTACTTTGCCCATGGAAGAAA (p.Lys1100=)
c.3246_3271delinsGAATTCTACTTTGCCCATGGAAGAAA (p.Lys1082=)
n.3315_3340delinsGAATTCTACTTTGCCCATGGAAGAAA
n.3403_3428delinsGAATTCTACTTTGCCCATGGAAGAAA
n.3275_3300delinsGAATTCTACTTTGCCCATGGAAGAAA
n.3151_3176delinsGAATTCTACTTTGCCCATGGAAGAAA
n.3411_3436delinsGAATTCTACTTTGCCCATGGAAGAAA
3g.47121392_47121416delCA2363416SETD2c.3090_3114del (p.Asn1031GlnfsTer?)
c.3123_3147del (p.Asn1042GlnfsTer?)
c.1102_1126del
c.1163_1187del
c.238_262del
c.1386_1410del (p.Asn463GlnfsTer?)
c.72-23333_72-23309del (n.72-23333_72-23309del)
c.3222_3246del (p.Asn1075GlnfsTer?)
c.2837_2861del
c.2374_2398del
c.2122_2146del
c.3300_3324del (p.Asn1101GlnfsTer?)
c.3246_3270del (p.Asn1083GlnfsTer?)
n.3315_3339del
n.3403_3427del
n.3275_3299del
n.3151_3175del
n.3411_3435del
 dbSNP ExAC gnomAD v2
3g.47121396C>ACA352523233SETD2c.3108G>T (p.Met1036Ile)
c.3141G>T (p.Met1047Ile)
c.1120G>T
c.1181G>T
c.256G>T
c.1404G>T (p.Met468Ile)
c.72-23315G>T (n.72-23315G>T)
c.3240G>T (p.Met1080Ile)
c.2855G>T
c.2392G>T
c.2140G>T
c.3318G>T (p.Met1106Ile)
c.3264G>T (p.Met1088Ile)
n.3333G>T
n.3421G>T
n.3293G>T
n.3169G>T
n.3429G>T
 COSMIC COSMIC
3g.47121396C=CA1362408325SETD2c.3108G= (p.Met1036=)
c.3141G= (p.Met1047=)
c.1120G=
c.1181G=
c.256G=
c.1404G= (p.Met468=)
c.72-23315G= (n.72-23315G=)
c.3240G= (p.Met1080=)
c.2855G=
c.2392G=
c.2140G=
c.3318G= (p.Met1106=)
c.3264G= (p.Met1088=)
n.3333G=
n.3421G=
n.3293G=
n.3169G=
n.3429G=
3g.47121396C>GCA352523235SETD2c.3108G>C (p.Met1036Ile)
c.3141G>C (p.Met1047Ile)
c.1120G>C
c.1181G>C
c.256G>C
c.1404G>C (p.Met468Ile)
c.72-23315G>C (n.72-23315G>C)
c.3240G>C (p.Met1080Ile)
c.2855G>C
c.2392G>C
c.2140G>C
c.3318G>C (p.Met1106Ile)
c.3264G>C (p.Met1088Ile)
n.3333G>C
n.3421G>C
n.3293G>C
n.3169G>C
n.3429G>C
3g.47121396C>TCA162098SETD2c.3108G>A (p.Met1036Ile)
c.3141G>A (p.Met1047Ile)
c.1120G>A
c.1181G>A
c.256G>A
c.1404G>A (p.Met468Ile)
c.72-23315G>A (n.72-23315G>A)
c.3240G>A (p.Met1080Ile)
c.2855G>A
c.2392G>A
c.2140G>A
c.3318G>A (p.Met1106Ile)
c.3264G>A (p.Met1088Ile)
n.3333G>A
n.3421G>A
n.3293G>A
n.3169G>A
n.3429G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47121397A=CA1362408334SETD2c.3107T= (p.Met1036=)
c.3140T= (p.Met1047=)
c.1119T=
c.1180T=
c.255T=
c.1403T= (p.Met468=)
c.72-23316T= (n.72-23316T=)
c.3239T= (p.Met1080=)
c.2854T=
c.2391T=
c.2139T=
c.3317T= (p.Met1106=)
c.3263T= (p.Met1088=)
n.3332T=
n.3420T=
n.3292T=
n.3168T=
n.3428T=
3g.47121397A>CCA352523238SETD2c.3107T>G (p.Met1036Arg)
c.3140T>G (p.Met1047Arg)
c.1119T>G
c.1180T>G
c.255T>G
c.1403T>G (p.Met468Arg)
c.72-23316T>G (n.72-23316T>G)
c.3239T>G (p.Met1080Arg)
c.2854T>G
c.2391T>G
c.2139T>G
c.3317T>G (p.Met1106Arg)
c.3263T>G (p.Met1088Arg)
n.3332T>G
n.3420T>G
n.3292T>G
n.3168T>G
n.3428T>G
 dbSNP
3g.47121397A>GCA352523241SETD2c.3107T>C (p.Met1036Thr)
c.3140T>C (p.Met1047Thr)
c.1119T>C
c.1180T>C
c.255T>C
c.1403T>C (p.Met468Thr)
c.72-23316T>C (n.72-23316T>C)
c.3239T>C (p.Met1080Thr)
c.2854T>C
c.2391T>C
c.2139T>C
c.3317T>C (p.Met1106Thr)
c.3263T>C (p.Met1088Thr)
n.3332T>C
n.3420T>C
n.3292T>C
n.3168T>C
n.3428T>C
 ClinVar dbSNP
3g.47121397A>TCA352523240SETD2c.3107T>A (p.Met1036Lys)
c.3140T>A (p.Met1047Lys)
c.1119T>A
c.1180T>A
c.255T>A
c.1403T>A (p.Met468Lys)
c.72-23316T>A (n.72-23316T>A)
c.3239T>A (p.Met1080Lys)
c.2854T>A
c.2391T>A
c.2139T>A
c.3317T>A (p.Met1106Lys)
c.3263T>A (p.Met1088Lys)
n.3332T>A
n.3420T>A
n.3292T>A
n.3168T>A
n.3428T>A
 dbSNP
3g.47121398T>ACA352523242SETD2c.3106A>T (p.Met1036Leu)
c.3139A>T (p.Met1047Leu)
c.1118A>T
c.1179A>T
c.254A>T
c.1402A>T (p.Met468Leu)
c.72-23317A>T (n.72-23317A>T)
c.3238A>T (p.Met1080Leu)
c.2853A>T
c.2390A>T
c.2138A>T
c.3316A>T (p.Met1106Leu)
c.3262A>T (p.Met1088Leu)
n.3331A>T
n.3419A>T
n.3291A>T
n.3167A>T
n.3427A>T
 dbSNP gnomAD v4
3g.47121398T>CCA352523244SETD2c.3106A>G (p.Met1036Val)
c.3139A>G (p.Met1047Val)
c.1118A>G
c.1179A>G
c.254A>G
c.1402A>G (p.Met468Val)
c.72-23317A>G (n.72-23317A>G)
c.3238A>G (p.Met1080Val)
c.2853A>G
c.2390A>G
c.2138A>G
c.3316A>G (p.Met1106Val)
c.3262A>G (p.Met1088Val)
n.3331A>G
n.3419A>G
n.3291A>G
n.3167A>G
n.3427A>G
 gnomAD v4
3g.47121398T>GCA352523245SETD2c.3106A>C (p.Met1036Leu)
c.3139A>C (p.Met1047Leu)
c.1118A>C
c.1179A>C
c.254A>C
c.1402A>C (p.Met468Leu)
c.72-23317A>C (n.72-23317A>C)
c.3238A>C (p.Met1080Leu)
c.2853A>C
c.2390A>C
c.2138A>C
c.3316A>C (p.Met1106Leu)
c.3262A>C (p.Met1088Leu)
n.3331A>C
n.3419A>C
n.3291A>C
n.3167A>C
n.3427A>C
3g.47121399G>ACA2363421SETD2c.3105C>T (p.Pro1035=)
c.3138C>T (p.Pro1046=)
c.1117C>T
c.1178C>T
c.253C>T
c.1401C>T (p.Pro467=)
c.72-23318C>T (n.72-23318C>T)
c.3237C>T (p.Pro1079=)
c.2852C>T
c.2389C>T
c.2137C>T
c.3315C>T (p.Pro1105=)
c.3261C>T (p.Pro1087=)
n.3330C>T
n.3418C>T
n.3290C>T
n.3166C>T
n.3426C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.47121399G>CCA433601185SETD2c.3105C>G (p.Pro1035=)
c.3138C>G (p.Pro1046=)
c.1117C>G
c.1178C>G
c.253C>G
c.1401C>G (p.Pro467=)
c.72-23318C>G (n.72-23318C>G)
c.3237C>G (p.Pro1079=)
c.2852C>G
c.2389C>G
c.2137C>G
c.3315C>G (p.Pro1105=)
c.3261C>G (p.Pro1087=)
n.3330C>G
n.3418C>G
n.3290C>G
n.3166C>G
n.3426C>G
 dbSNP
3g.47121399G=CA1362408341SETD2c.3105C= (p.Pro1035=)
c.3138C= (p.Pro1046=)
c.1117C=
c.1178C=
c.253C=
c.1401C= (p.Pro467=)
c.72-23318C= (n.72-23318C=)
c.3237C= (p.Pro1079=)
c.2852C=
c.2389C=
c.2137C=
c.3315C= (p.Pro1105=)
c.3261C= (p.Pro1087=)
n.3330C=
n.3418C=
n.3290C=
n.3166C=
n.3426C=
3g.47121399G>TCA433601186SETD2c.3105C>A (p.Pro1035=)
c.3138C>A (p.Pro1046=)
c.1117C>A
c.1178C>A
c.253C>A
c.1401C>A (p.Pro467=)
c.72-23318C>A (n.72-23318C>A)
c.3237C>A (p.Pro1079=)
c.2852C>A
c.2389C>A
c.2137C>A
c.3315C>A (p.Pro1105=)
c.3261C>A (p.Pro1087=)
n.3330C>A
n.3418C>A
n.3290C>A
n.3166C>A
n.3426C>A
 dbSNP
3g.47121400G>ACA2363422SETD2c.3104C>T (p.Pro1035Leu)
c.3137C>T (p.Pro1046Leu)
c.1116C>T
c.1177C>T
c.252C>T
c.1400C>T (p.Pro467Leu)
c.72-23319C>T (n.72-23319C>T)
c.3236C>T (p.Pro1079Leu)
c.2851C>T
c.2388C>T
c.2136C>T
c.3314C>T (p.Pro1105Leu)
c.3260C>T (p.Pro1087Leu)
n.3329C>T
n.3417C>T
n.3289C>T
n.3165C>T
n.3425C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47121400G>CCA352523248SETD2c.3104C>G (p.Pro1035Arg)
c.3137C>G (p.Pro1046Arg)
c.1116C>G
c.1177C>G
c.252C>G
c.1400C>G (p.Pro467Arg)
c.72-23319C>G (n.72-23319C>G)
c.3236C>G (p.Pro1079Arg)
c.2851C>G
c.2388C>G
c.2136C>G
c.3314C>G (p.Pro1105Arg)
c.3260C>G (p.Pro1087Arg)
n.3329C>G
n.3417C>G
n.3289C>G
n.3165C>G
n.3425C>G
 dbSNP
3g.47121400G=CA1362408345SETD2c.3104C= (p.Pro1035=)
c.3137C= (p.Pro1046=)
c.1116C=
c.1177C=
c.252C=
c.1400C= (p.Pro467=)
c.72-23319C= (n.72-23319C=)
c.3236C= (p.Pro1079=)
c.2851C=
c.2388C=
c.2136C=
c.3314C= (p.Pro1105=)
c.3260C= (p.Pro1087=)
n.3329C=
n.3417C=
n.3289C=
n.3165C=
n.3425C=
3g.47121400G>TCA352523250SETD2c.3104C>A (p.Pro1035His)
c.3137C>A (p.Pro1046His)
c.1116C>A
c.1177C>A
c.252C>A
c.1400C>A (p.Pro467His)
c.72-23319C>A (n.72-23319C>A)
c.3236C>A (p.Pro1079His)
c.2851C>A
c.2388C>A
c.2136C>A
c.3314C>A (p.Pro1105His)
c.3260C>A (p.Pro1087His)
n.3329C>A
n.3417C>A
n.3289C>A
n.3165C>A
n.3425C>A
 dbSNP
3g.47121401G>ACA352523252SETD2c.3103C>T (p.Pro1035Ser)
c.3136C>T (p.Pro1046Ser)
c.1115C>T
c.1176C>T
c.251C>T
c.1399C>T (p.Pro467Ser)
c.72-23320C>T (n.72-23320C>T)
c.3235C>T (p.Pro1079Ser)
c.2850C>T
c.2387C>T
c.2135C>T
c.3313C>T (p.Pro1105Ser)
c.3259C>T (p.Pro1087Ser)
n.3328C>T
n.3416C>T
n.3288C>T
n.3164C>T
n.3424C>T
 dbSNP gnomAD v4
3g.47121401G>CCA352523254SETD2c.3103C>G (p.Pro1035Ala)
c.3136C>G (p.Pro1046Ala)
c.1115C>G
c.1176C>G
c.251C>G
c.1399C>G (p.Pro467Ala)
c.72-23320C>G (n.72-23320C>G)
c.3235C>G (p.Pro1079Ala)
c.2850C>G
c.2387C>G
c.2135C>G
c.3313C>G (p.Pro1105Ala)
c.3259C>G (p.Pro1087Ala)
n.3328C>G
n.3416C>G
n.3288C>G
n.3164C>G
n.3424C>G
 dbSNP
3g.47121401G>TCA352523256SETD2c.3103C>A (p.Pro1035Thr)
c.3136C>A (p.Pro1046Thr)
c.1115C>A
c.1176C>A
c.251C>A
c.1399C>A (p.Pro467Thr)
c.72-23320C>A (n.72-23320C>A)
c.3235C>A (p.Pro1079Thr)
c.2850C>A
c.2387C>A
c.2135C>A
c.3313C>A (p.Pro1105Thr)
c.3259C>A (p.Pro1087Thr)
n.3328C>A
n.3416C>A
n.3288C>A
n.3164C>A
n.3424C>A
 dbSNP
3g.47121402C>ACA352523257SETD2c.3102G>T (p.Leu1034Phe)
c.3135G>T (p.Leu1045Phe)
c.1114G>T
c.1175G>T
c.250G>T
c.1398G>T (p.Leu466Phe)
c.72-23321G>T (n.72-23321G>T)
c.3234G>T (p.Leu1078Phe)
c.2849G>T
c.2386G>T
c.2134G>T
c.3312G>T (p.Leu1104Phe)
c.3258G>T (p.Leu1086Phe)
n.3327G>T
n.3415G>T
n.3287G>T
n.3163G>T
n.3423G>T
 dbSNP
3g.47121402C>GCA352523258SETD2c.3102G>C (p.Leu1034Phe)
c.3135G>C (p.Leu1045Phe)
c.1114G>C
c.1175G>C
c.250G>C
c.1398G>C (p.Leu466Phe)
c.72-23321G>C (n.72-23321G>C)
c.3234G>C (p.Leu1078Phe)
c.2849G>C
c.2386G>C
c.2134G>C
c.3312G>C (p.Leu1104Phe)
c.3258G>C (p.Leu1086Phe)
n.3327G>C
n.3415G>C
n.3287G>C
n.3163G>C
n.3423G>C
 dbSNP
3g.47121402C>TCA433601196SETD2c.3102G>A (p.Leu1034=)
c.3135G>A (p.Leu1045=)
c.1114G>A
c.1175G>A
c.250G>A
c.1398G>A (p.Leu466=)
c.72-23321G>A (n.72-23321G>A)
c.3234G>A (p.Leu1078=)
c.2849G>A
c.2386G>A
c.2134G>A
c.3312G>A (p.Leu1104=)
c.3258G>A (p.Leu1086=)
n.3327G>A
n.3415G>A
n.3287G>A
n.3163G>A
n.3423G>A
 dbSNP
3g.47121403A>CCA352523260SETD2c.3101T>G (p.Leu1034Trp)
c.3134T>G (p.Leu1045Trp)
c.1113T>G
c.1174T>G
c.249T>G
c.1397T>G (p.Leu466Trp)
c.72-23322T>G (n.72-23322T>G)
c.3233T>G (p.Leu1078Trp)
c.2848T>G
c.2385T>G
c.2133T>G
c.3311T>G (p.Leu1104Trp)
c.3257T>G (p.Leu1086Trp)
n.3326T>G
n.3414T>G
n.3286T>G
n.3162T>G
n.3422T>G
3g.47121403A>GCA352523262SETD2c.3101T>C (p.Leu1034Ser)
c.3134T>C (p.Leu1045Ser)
c.1113T>C
c.1174T>C
c.249T>C
c.1397T>C (p.Leu466Ser)
c.72-23322T>C (n.72-23322T>C)
c.3233T>C (p.Leu1078Ser)
c.2848T>C
c.2385T>C
c.2133T>C
c.3311T>C (p.Leu1104Ser)
c.3257T>C (p.Leu1086Ser)
n.3326T>C
n.3414T>C
n.3286T>C
n.3162T>C
n.3422T>C
3g.47121403A>TCA352523263SETD2c.3101T>A (p.Leu1034Ter)
c.3134T>A (p.Leu1045Ter)
c.1113T>A
c.1174T>A
c.249T>A
c.1397T>A (p.Leu466Ter)
c.72-23322T>A (n.72-23322T>A)
c.3233T>A (p.Leu1078Ter)
c.2848T>A
c.2385T>A
c.2133T>A
c.3311T>A (p.Leu1104Ter)
c.3257T>A (p.Leu1086Ter)
n.3326T>A
n.3414T>A
n.3286T>A
n.3162T>A
n.3422T>A
 dbSNP
3g.47121404A>CCA352523265SETD2c.3100T>G (p.Leu1034Val)
c.3133T>G (p.Leu1045Val)
c.1112T>G
c.1173T>G
c.248T>G
c.1396T>G (p.Leu466Val)
c.72-23323T>G (n.72-23323T>G)
c.3232T>G (p.Leu1078Val)
c.2847T>G
c.2384T>G
c.2132T>G
c.3310T>G (p.Leu1104Val)
c.3256T>G (p.Leu1086Val)
n.3325T>G
n.3413T>G
n.3285T>G
n.3161T>G
n.3421T>G
3g.47121404A>GCA433601203SETD2c.3100T>C (p.Leu1034=)
c.3133T>C (p.Leu1045=)
c.1112T>C
c.1173T>C
c.248T>C
c.1396T>C (p.Leu466=)
c.72-23323T>C (n.72-23323T>C)
c.3232T>C (p.Leu1078=)
c.2847T>C
c.2384T>C
c.2132T>C
c.3310T>C (p.Leu1104=)
c.3256T>C (p.Leu1086=)
n.3325T>C
n.3413T>C
n.3285T>C
n.3161T>C
n.3421T>C
 dbSNP
3g.47121404A>TCA352523266SETD2c.3100T>A (p.Leu1034Met)
c.3133T>A (p.Leu1045Met)
c.1112T>A
c.1173T>A
c.248T>A
c.1396T>A (p.Leu466Met)
c.72-23323T>A (n.72-23323T>A)
c.3232T>A (p.Leu1078Met)
c.2847T>A
c.2384T>A
c.2132T>A
c.3310T>A (p.Leu1104Met)
c.3256T>A (p.Leu1086Met)
n.3325T>A
n.3413T>A
n.3285T>A
n.3161T>A
n.3421T>A
 dbSNP
3g.47121405A>CCA433601209SETD2c.3099T>G (p.Thr1033=)
c.3132T>G (p.Thr1044=)
c.1111T>G
c.1172T>G
c.247T>G
c.1395T>G (p.Thr465=)
c.72-23324T>G (n.72-23324T>G)
c.3231T>G (p.Thr1077=)
c.2846T>G
c.2383T>G
c.2131T>G
c.3309T>G (p.Thr1103=)
c.3255T>G (p.Thr1085=)
n.3324T>G
n.3412T>G
n.3284T>G
n.3160T>G
n.3420T>G
3g.47121405A>GCA433601211SETD2c.3099T>C (p.Thr1033=)
c.3132T>C (p.Thr1044=)
c.1111T>C
c.1172T>C
c.247T>C
c.1395T>C (p.Thr465=)
c.72-23324T>C (n.72-23324T>C)
c.3231T>C (p.Thr1077=)
c.2846T>C
c.2383T>C
c.2131T>C
c.3309T>C (p.Thr1103=)
c.3255T>C (p.Thr1085=)
n.3324T>C
n.3412T>C
n.3284T>C
n.3160T>C
n.3420T>C
 dbSNP
3g.47121405A>TCA433601213SETD2c.3099T>A (p.Thr1033=)
c.3132T>A (p.Thr1044=)
c.1111T>A
c.1172T>A
c.247T>A
c.1395T>A (p.Thr465=)
c.72-23324T>A (n.72-23324T>A)
c.3231T>A (p.Thr1077=)
c.2846T>A
c.2383T>A
c.2131T>A
c.3309T>A (p.Thr1103=)
c.3255T>A (p.Thr1085=)
n.3324T>A
n.3412T>A
n.3284T>A
n.3160T>A
n.3420T>A
 dbSNP
3g.47121406G>ACA352523269SETD2c.3098C>T (p.Thr1033Ile)
c.3131C>T (p.Thr1044Ile)
c.1110C>T
c.1171C>T
c.246C>T
c.1394C>T (p.Thr465Ile)
c.72-23325C>T (n.72-23325C>T)
c.3230C>T (p.Thr1077Ile)
c.2845C>T
c.2382C>T
c.2130C>T
c.3308C>T (p.Thr1103Ile)
c.3254C>T (p.Thr1085Ile)
n.3323C>T
n.3411C>T
n.3283C>T
n.3159C>T
n.3419C>T
 dbSNP
3g.47121406G>CCA352523270SETD2c.3098C>G (p.Thr1033Ser)
c.3131C>G (p.Thr1044Ser)
c.1110C>G
c.1171C>G
c.246C>G
c.1394C>G (p.Thr465Ser)
c.72-23325C>G (n.72-23325C>G)
c.3230C>G (p.Thr1077Ser)
c.2845C>G
c.2382C>G
c.2130C>G
c.3308C>G (p.Thr1103Ser)
c.3254C>G (p.Thr1085Ser)
n.3323C>G
n.3411C>G
n.3283C>G
n.3159C>G
n.3419C>G
 dbSNP gnomAD v4
3g.47121406G>TCA352523272SETD2c.3098C>A (p.Thr1033Asn)
c.3131C>A (p.Thr1044Asn)
c.1110C>A
c.1171C>A
c.246C>A
c.1394C>A (p.Thr465Asn)
c.72-23325C>A (n.72-23325C>A)
c.3230C>A (p.Thr1077Asn)
c.2845C>A
c.2382C>A
c.2130C>A
c.3308C>A (p.Thr1103Asn)
c.3254C>A (p.Thr1085Asn)
n.3323C>A
n.3411C>A
n.3283C>A
n.3159C>A
n.3419C>A
3g.47121407T>ACA352523273SETD2c.3097A>T (p.Thr1033Ser)
c.3130A>T (p.Thr1044Ser)
c.1109A>T
c.1170A>T
c.245A>T
c.1393A>T (p.Thr465Ser)
c.72-23326A>T (n.72-23326A>T)
c.3229A>T (p.Thr1077Ser)
c.2844A>T
c.2381A>T
c.2129A>T
c.3307A>T (p.Thr1103Ser)
c.3253A>T (p.Thr1085Ser)
n.3322A>T
n.3410A>T
n.3282A>T
n.3158A>T
n.3418A>T
 dbSNP
3g.47121407T>CCA162044SETD2c.3097A>G (p.Thr1033Ala)
c.3130A>G (p.Thr1044Ala)
c.1109A>G
c.1170A>G
c.245A>G
c.1393A>G (p.Thr465Ala)
c.72-23326A>G (n.72-23326A>G)
c.3229A>G (p.Thr1077Ala)
c.2844A>G
c.2381A>G
c.2129A>G
c.3307A>G (p.Thr1103Ala)
c.3253A>G (p.Thr1085Ala)
n.3322A>G
n.3410A>G
n.3282A>G
n.3158A>G
n.3418A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47121407T>GCA352523275SETD2c.3097A>C (p.Thr1033Pro)
c.3130A>C (p.Thr1044Pro)
c.1109A>C
c.1170A>C
c.245A>C
c.1393A>C (p.Thr465Pro)
c.72-23326A>C (n.72-23326A>C)
c.3229A>C (p.Thr1077Pro)
c.2844A>C
c.2381A>C
c.2129A>C
c.3307A>C (p.Thr1103Pro)
c.3253A>C (p.Thr1085Pro)
n.3322A>C
n.3410A>C
n.3282A>C
n.3158A>C
n.3418A>C
 dbSNP
3g.47121407T=CA1362408352SETD2c.3097A= (p.Thr1033=)
c.3130A= (p.Thr1044=)
c.1109A=
c.1170A=
c.245A=
c.1393A= (p.Thr465=)
c.72-23326A= (n.72-23326A=)
c.3229A= (p.Thr1077=)
c.2844A=
c.2381A=
c.2129A=
c.3307A= (p.Thr1103=)
c.3253A= (p.Thr1085=)
n.3322A=
n.3410A=
n.3282A=
n.3158A=
n.3418A=
3g.47121408A>CCA433601217SETD2c.3096T>G (p.Ser1032=)
c.3129T>G (p.Ser1043=)
c.1108T>G
c.1169T>G
c.244T>G
c.1392T>G (p.Ser464=)
c.72-23327T>G (n.72-23327T>G)
c.3228T>G (p.Ser1076=)
c.2843T>G
c.2380T>G
c.2128T>G
c.3306T>G (p.Ser1102=)
c.3252T>G (p.Ser1084=)
n.3321T>G
n.3409T>G
n.3281T>G
n.3157T>G
n.3417T>G
 gnomAD v4
3g.47121408A>GCA433601218SETD2c.3096T>C (p.Ser1032=)
c.3129T>C (p.Ser1043=)
c.1108T>C
c.1169T>C
c.244T>C
c.1392T>C (p.Ser464=)
c.72-23327T>C (n.72-23327T>C)
c.3228T>C (p.Ser1076=)
c.2843T>C
c.2380T>C
c.2128T>C
c.3306T>C (p.Ser1102=)
c.3252T>C (p.Ser1084=)
n.3321T>C
n.3409T>C
n.3281T>C
n.3157T>C
n.3417T>C
 dbSNP
3g.47121408A>TCA433601219SETD2c.3096T>A (p.Ser1032=)
c.3129T>A (p.Ser1043=)
c.1108T>A
c.1169T>A
c.244T>A
c.1392T>A (p.Ser464=)
c.72-23327T>A (n.72-23327T>A)
c.3228T>A (p.Ser1076=)
c.2843T>A
c.2380T>A
c.2128T>A
c.3306T>A (p.Ser1102=)
c.3252T>A (p.Ser1084=)
n.3321T>A
n.3409T>A
n.3281T>A
n.3157T>A
n.3417T>A
 dbSNP
3g.47121409G>ACA352523277SETD2c.3095C>T (p.Ser1032Phe)
c.3128C>T (p.Ser1043Phe)
c.1107C>T
c.1168C>T
c.243C>T
c.1391C>T (p.Ser464Phe)
c.72-23328C>T (n.72-23328C>T)
c.3227C>T (p.Ser1076Phe)
c.2842C>T
c.2379C>T
c.2127C>T
c.3305C>T (p.Ser1102Phe)
c.3251C>T (p.Ser1084Phe)
n.3320C>T
n.3408C>T
n.3280C>T
n.3156C>T
n.3416C>T
 dbSNP
3g.47121409G>CCA352523279SETD2c.3095C>G (p.Ser1032Cys)
c.3128C>G (p.Ser1043Cys)
c.1107C>G
c.1168C>G
c.243C>G
c.1391C>G (p.Ser464Cys)
c.72-23328C>G (n.72-23328C>G)
c.3227C>G (p.Ser1076Cys)
c.2842C>G
c.2379C>G
c.2127C>G
c.3305C>G (p.Ser1102Cys)
c.3251C>G (p.Ser1084Cys)
n.3320C>G
n.3408C>G
n.3280C>G
n.3156C>G
n.3416C>G
 dbSNP
3g.47121409G>TCA352523280SETD2c.3095C>A (p.Ser1032Tyr)
c.3128C>A (p.Ser1043Tyr)
c.1107C>A
c.1168C>A
c.243C>A
c.1391C>A (p.Ser464Tyr)
c.72-23328C>A (n.72-23328C>A)
c.3227C>A (p.Ser1076Tyr)
c.2842C>A
c.2379C>A
c.2127C>A
c.3305C>A (p.Ser1102Tyr)
c.3251C>A (p.Ser1084Tyr)
n.3320C>A
n.3408C>A
n.3280C>A
n.3156C>A
n.3416C>A
 dbSNP
3g.47121410A>CCA352523282SETD2c.3094T>G (p.Ser1032Ala)
c.3127T>G (p.Ser1043Ala)
c.1106T>G
c.1167T>G
c.242T>G
c.1390T>G (p.Ser464Ala)
c.72-23329T>G (n.72-23329T>G)
c.3226T>G (p.Ser1076Ala)
c.2841T>G
c.2378T>G
c.2126T>G
c.3304T>G (p.Ser1102Ala)
c.3250T>G (p.Ser1084Ala)
n.3319T>G
n.3407T>G
n.3279T>G
n.3155T>G
n.3415T>G
3g.47121410A>GCA352523284SETD2c.3094T>C (p.Ser1032Pro)
c.3127T>C (p.Ser1043Pro)
c.1106T>C
c.1167T>C
c.242T>C
c.1390T>C (p.Ser464Pro)
c.72-23329T>C (n.72-23329T>C)
c.3226T>C (p.Ser1076Pro)
c.2841T>C
c.2378T>C
c.2126T>C
c.3304T>C (p.Ser1102Pro)
c.3250T>C (p.Ser1084Pro)
n.3319T>C
n.3407T>C
n.3279T>C
n.3155T>C
n.3415T>C
 dbSNP
3g.47121410A>TCA352523285SETD2c.3094T>A (p.Ser1032Thr)
c.3127T>A (p.Ser1043Thr)
c.1106T>A
c.1167T>A
c.242T>A
c.1390T>A (p.Ser464Thr)
c.72-23329T>A (n.72-23329T>A)
c.3226T>A (p.Ser1076Thr)
c.2841T>A
c.2378T>A
c.2126T>A
c.3304T>A (p.Ser1102Thr)
c.3250T>A (p.Ser1084Thr)
n.3319T>A
n.3407T>A
n.3279T>A
n.3155T>A
n.3415T>A
 dbSNP
3g.47121411A>CCA352523286SETD2c.3093T>G (p.Asn1031Lys)
c.3126T>G (p.Asn1042Lys)
c.1105T>G
c.1166T>G
c.241T>G
c.1389T>G (p.Asn463Lys)
c.72-23330T>G (n.72-23330T>G)
c.3225T>G (p.Asn1075Lys)
c.2840T>G
c.2377T>G
c.2125T>G
c.3303T>G (p.Asn1101Lys)
c.3249T>G (p.Asn1083Lys)
n.3318T>G
n.3406T>G
n.3278T>G
n.3154T>G
n.3414T>G
3g.47121411A>GCA433601229SETD2c.3093T>C (p.Asn1031=)
c.3126T>C (p.Asn1042=)
c.1105T>C
c.1166T>C
c.241T>C
c.1389T>C (p.Asn463=)
c.72-23330T>C (n.72-23330T>C)
c.3225T>C (p.Asn1075=)
c.2840T>C
c.2377T>C
c.2125T>C
c.3303T>C (p.Asn1101=)
c.3249T>C (p.Asn1083=)
n.3318T>C
n.3406T>C
n.3278T>C
n.3154T>C
n.3414T>C
3g.47121411A>TCA352523287SETD2c.3093T>A (p.Asn1031Lys)
c.3126T>A (p.Asn1042Lys)
c.1105T>A
c.1166T>A
c.241T>A
c.1389T>A (p.Asn463Lys)
c.72-23330T>A (n.72-23330T>A)
c.3225T>A (p.Asn1075Lys)
c.2840T>A
c.2377T>A
c.2125T>A
c.3303T>A (p.Asn1101Lys)
c.3249T>A (p.Asn1083Lys)
n.3318T>A
n.3406T>A
n.3278T>A
n.3154T>A
n.3414T>A
 dbSNP
3g.47121412T>ACA352523290SETD2c.3092A>T (p.Asn1031Ile)
c.3125A>T (p.Asn1042Ile)
c.1104A>T
c.1165A>T
c.240A>T
c.1388A>T (p.Asn463Ile)
c.72-23331A>T (n.72-23331A>T)
c.3224A>T (p.Asn1075Ile)
c.2839A>T
c.2376A>T
c.2124A>T
c.3302A>T (p.Asn1101Ile)
c.3248A>T (p.Asn1083Ile)
n.3317A>T
n.3405A>T
n.3277A>T
n.3153A>T
n.3413A>T
 dbSNP
3g.47121412T>CCA352523292SETD2c.3092A>G (p.Asn1031Ser)
c.3125A>G (p.Asn1042Ser)
c.1104A>G
c.1165A>G
c.240A>G
c.1388A>G (p.Asn463Ser)
c.72-23331A>G (n.72-23331A>G)
c.3224A>G (p.Asn1075Ser)
c.2839A>G
c.2376A>G
c.2124A>G
c.3302A>G (p.Asn1101Ser)
c.3248A>G (p.Asn1083Ser)
n.3317A>G
n.3405A>G
n.3277A>G
n.3153A>G
n.3413A>G
 dbSNP
3g.47121412T>GCA352523293SETD2c.3092A>C (p.Asn1031Thr)
c.3125A>C (p.Asn1042Thr)
c.1104A>C
c.1165A>C
c.240A>C
c.1388A>C (p.Asn463Thr)
c.72-23331A>C (n.72-23331A>C)
c.3224A>C (p.Asn1075Thr)
c.2839A>C
c.2376A>C
c.2124A>C
c.3302A>C (p.Asn1101Thr)
c.3248A>C (p.Asn1083Thr)
n.3317A>C
n.3405A>C
n.3277A>C
n.3153A>C
n.3413A>C
 dbSNP
3g.47121413T>ACA352523294SETD2c.3091A>T (p.Asn1031Tyr)
c.3124A>T (p.Asn1042Tyr)
c.1103A>T
c.1164A>T
c.239A>T
c.1387A>T (p.Asn463Tyr)
c.72-23332A>T (n.72-23332A>T)
c.3223A>T (p.Asn1075Tyr)
c.2838A>T
c.2375A>T
c.2123A>T
c.3301A>T (p.Asn1101Tyr)
c.3247A>T (p.Asn1083Tyr)
n.3316A>T
n.3404A>T
n.3276A>T
n.3152A>T
n.3412A>T
 dbSNP
3g.47121413T>CCA352523295SETD2c.3091A>G (p.Asn1031Asp)
c.3124A>G (p.Asn1042Asp)
c.1103A>G
c.1164A>G
c.239A>G
c.1387A>G (p.Asn463Asp)
c.72-23332A>G (n.72-23332A>G)
c.3223A>G (p.Asn1075Asp)
c.2838A>G
c.2375A>G
c.2123A>G
c.3301A>G (p.Asn1101Asp)
c.3247A>G (p.Asn1083Asp)
n.3316A>G
n.3404A>G
n.3276A>G
n.3152A>G
n.3412A>G
 dbSNP
3g.47121413T>GCA352523296SETD2c.3091A>C (p.Asn1031His)
c.3124A>C (p.Asn1042His)
c.1103A>C
c.1164A>C
c.239A>C
c.1387A>C (p.Asn463His)
c.72-23332A>C (n.72-23332A>C)
c.3223A>C (p.Asn1075His)
c.2838A>C
c.2375A>C
c.2123A>C
c.3301A>C (p.Asn1101His)
c.3247A>C (p.Asn1083His)
n.3316A>C
n.3404A>C
n.3276A>C
n.3152A>C
n.3412A>C
3g.47121414C>ACA2363423SETD2c.3090G>T (p.Lys1030Asn)
c.3123G>T (p.Lys1041Asn)
c.1102G>T
c.1163G>T
c.238G>T
c.1386G>T (p.Lys462Asn)
c.72-23333G>T (n.72-23333G>T)
c.3222G>T (p.Lys1074Asn)
c.2837G>T
c.2374G>T
c.2122G>T
c.3300G>T (p.Lys1100Asn)
c.3246G>T (p.Lys1082Asn)
n.3315G>T
n.3403G>T
n.3275G>T
n.3151G>T
n.3411G>T
 dbSNP ExAC gnomAD v2
3g.47121414C=CA1362408360SETD2c.3090G= (p.Lys1030=)
c.3123G= (p.Lys1041=)
c.1102G=
c.1163G=
c.238G=
c.1386G= (p.Lys462=)
c.72-23333G= (n.72-23333G=)
c.3222G= (p.Lys1074=)
c.2837G=
c.2374G=
c.2122G=
c.3300G= (p.Lys1100=)
c.3246G= (p.Lys1082=)
n.3315G=
n.3403G=
n.3275G=
n.3151G=
n.3411G=
3g.47121414C>GCA352523299SETD2c.3090G>C (p.Lys1030Asn)
c.3123G>C (p.Lys1041Asn)
c.1102G>C
c.1163G>C
c.238G>C
c.1386G>C (p.Lys462Asn)
c.72-23333G>C (n.72-23333G>C)
c.3222G>C (p.Lys1074Asn)
c.2837G>C
c.2374G>C
c.2122G>C
c.3300G>C (p.Lys1100Asn)
c.3246G>C (p.Lys1082Asn)
n.3315G>C
n.3403G>C
n.3275G>C
n.3151G>C
n.3411G>C
3g.47121414C>TCA433601405SETD2c.3090G>A (p.Lys1030=)
c.3123G>A (p.Lys1041=)
c.1102G>A
c.1163G>A
c.238G>A
c.1386G>A (p.Lys462=)
c.72-23333G>A (n.72-23333G>A)
c.3222G>A (p.Lys1074=)
c.2837G>A
c.2374G>A
c.2122G>A
c.3300G>A (p.Lys1100=)
c.3246G>A (p.Lys1082=)
n.3315G>A
n.3403G>A
n.3275G>A
n.3151G>A
n.3411G>A
 dbSNP
3g.47121415T>ACA352523301SETD2c.3089A>T (p.Lys1030Met)
c.3122A>T (p.Lys1041Met)
c.1101A>T
c.1162A>T
c.237A>T
c.1385A>T (p.Lys462Met)
c.72-23334A>T (n.72-23334A>T)
c.3221A>T (p.Lys1074Met)
c.2836A>T
c.2373A>T
c.2121A>T
c.3299A>T (p.Lys1100Met)
c.3245A>T (p.Lys1082Met)
n.3314A>T
n.3402A>T
n.3274A>T
n.3150A>T
n.3410A>T
 dbSNP
3g.47121415T>CCA352523302SETD2c.3089A>G (p.Lys1030Arg)
c.3122A>G (p.Lys1041Arg)
c.1101A>G
c.1162A>G
c.237A>G
c.1385A>G (p.Lys462Arg)
c.72-23334A>G (n.72-23334A>G)
c.3221A>G (p.Lys1074Arg)
c.2836A>G
c.2373A>G
c.2121A>G
c.3299A>G (p.Lys1100Arg)
c.3245A>G (p.Lys1082Arg)
n.3314A>G
n.3402A>G
n.3274A>G
n.3150A>G
n.3410A>G
 dbSNP
3g.47121415T>GCA352523304SETD2c.3089A>C (p.Lys1030Thr)
c.3122A>C (p.Lys1041Thr)
c.1101A>C
c.1162A>C
c.237A>C
c.1385A>C (p.Lys462Thr)
c.72-23334A>C (n.72-23334A>C)
c.3221A>C (p.Lys1074Thr)
c.2836A>C
c.2373A>C
c.2121A>C
c.3299A>C (p.Lys1100Thr)
c.3245A>C (p.Lys1082Thr)
n.3314A>C
n.3402A>C
n.3274A>C
n.3150A>C
n.3410A>C
3g.47121416T>ACA352523306SETD2c.3088A>T (p.Lys1030Ter)
c.3121A>T (p.Lys1041Ter)
c.1100A>T
c.1161A>T
c.236A>T
c.1384A>T (p.Lys462Ter)
c.72-23335A>T (n.72-23335A>T)
c.3220A>T (p.Lys1074Ter)
c.2835A>T
c.2372A>T
c.2120A>T
c.3298A>T (p.Lys1100Ter)
c.3244A>T (p.Lys1082Ter)
n.3313A>T
n.3401A>T
n.3273A>T
n.3149A>T
n.3409A>T
 dbSNP
3g.47121416T>CCA352523308SETD2c.3088A>G (p.Lys1030Glu)
c.3121A>G (p.Lys1041Glu)
c.1100A>G
c.1161A>G
c.236A>G
c.1384A>G (p.Lys462Glu)
c.72-23335A>G (n.72-23335A>G)
c.3220A>G (p.Lys1074Glu)
c.2835A>G
c.2372A>G
c.2120A>G
c.3298A>G (p.Lys1100Glu)
c.3244A>G (p.Lys1082Glu)
n.3313A>G
n.3401A>G
n.3273A>G
n.3149A>G
n.3409A>G
 ClinVar dbSNP gnomAD v4
3g.47121416T>GCA352523309SETD2c.3088A>C (p.Lys1030Gln)
c.3121A>C (p.Lys1041Gln)
c.1100A>C
c.1161A>C
c.236A>C
c.1384A>C (p.Lys462Gln)
c.72-23335A>C (n.72-23335A>C)
c.3220A>C (p.Lys1074Gln)
c.2835A>C
c.2372A>C
c.2120A>C
c.3298A>C (p.Lys1100Gln)
c.3244A>C (p.Lys1082Gln)
n.3313A>C
n.3401A>C
n.3273A>C
n.3149A>C
n.3409A>C
3g.47121416T=CA1362408363SETD2c.3088A= (p.Lys1030=)
c.3121A= (p.Lys1041=)
c.1100A=
c.1161A=
c.236A=
c.1384A= (p.Lys462=)
c.72-23335A= (n.72-23335A=)
c.3220A= (p.Lys1074=)
c.2835A=
c.2372A=
c.2120A=
c.3298A= (p.Lys1100=)
c.3244A= (p.Lys1082=)
n.3313A=
n.3401A=
n.3273A=
n.3149A=
n.3409A=
3g.47121417T>ACA433601411SETD2c.3087A>T (p.Pro1029=)
c.3120A>T (p.Pro1040=)
c.1099A>T
c.1160A>T
c.235A>T
c.1383A>T (p.Pro461=)
c.72-23336A>T (n.72-23336A>T)
c.3219A>T (p.Pro1073=)
c.2834A>T
c.2371A>T
c.2119A>T
c.3297A>T (p.Pro1099=)
c.3243A>T (p.Pro1081=)
n.3312A>T
n.3400A>T
n.3272A>T
n.3148A>T
n.3408A>T
3g.47121417T>CCA433601412SETD2c.3087A>G (p.Pro1029=)
c.3120A>G (p.Pro1040=)
c.1099A>G
c.1160A>G
c.235A>G
c.1383A>G (p.Pro461=)
c.72-23336A>G (n.72-23336A>G)
c.3219A>G (p.Pro1073=)
c.2834A>G
c.2371A>G
c.2119A>G
c.3297A>G (p.Pro1099=)
c.3243A>G (p.Pro1081=)
n.3312A>G
n.3400A>G
n.3272A>G
n.3148A>G
n.3408A>G
 gnomAD v4
3g.47121417T>GCA433601413SETD2c.3087A>C (p.Pro1029=)
c.3120A>C (p.Pro1040=)
c.1099A>C
c.1160A>C
c.235A>C
c.1383A>C (p.Pro461=)
c.72-23336A>C (n.72-23336A>C)
c.3219A>C (p.Pro1073=)
c.2834A>C
c.2371A>C
c.2119A>C
c.3297A>C (p.Pro1099=)
c.3243A>C (p.Pro1081=)
n.3312A>C
n.3400A>C
n.3272A>C
n.3148A>C
n.3408A>C
3g.47121418G>ACA352523310SETD2c.3086C>T (p.Pro1029Leu)
c.3119C>T (p.Pro1040Leu)
c.1098C>T
c.1159C>T
c.234C>T
c.1382C>T (p.Pro461Leu)
c.72-23337C>T (n.72-23337C>T)
c.3218C>T (p.Pro1073Leu)
c.2833C>T
c.2370C>T
c.2118C>T
c.3296C>T (p.Pro1099Leu)
c.3242C>T (p.Pro1081Leu)
n.3311C>T
n.3399C>T
n.3271C>T
n.3147C>T
n.3407C>T
 dbSNP
3g.47121418G>CCA352523311SETD2c.3086C>G (p.Pro1029Arg)
c.3119C>G (p.Pro1040Arg)
c.1098C>G
c.1159C>G
c.234C>G
c.1382C>G (p.Pro461Arg)
c.72-23337C>G (n.72-23337C>G)
c.3218C>G (p.Pro1073Arg)
c.2833C>G
c.2370C>G
c.2118C>G
c.3296C>G (p.Pro1099Arg)
c.3242C>G (p.Pro1081Arg)
n.3311C>G
n.3399C>G
n.3271C>G
n.3147C>G
n.3407C>G
 dbSNP
3g.47121418G>TCA352523313SETD2c.3086C>A (p.Pro1029Gln)
c.3119C>A (p.Pro1040Gln)
c.1098C>A
c.1159C>A
c.234C>A
c.1382C>A (p.Pro461Gln)
c.72-23337C>A (n.72-23337C>A)
c.3218C>A (p.Pro1073Gln)
c.2833C>A
c.2370C>A
c.2118C>A
c.3296C>A (p.Pro1099Gln)
c.3242C>A (p.Pro1081Gln)
n.3311C>A
n.3399C>A
n.3271C>A
n.3147C>A
n.3407C>A
 dbSNP
3g.47121419G>ACA352523314SETD2c.3085C>T (p.Pro1029Ser)
c.3118C>T (p.Pro1040Ser)
c.1097C>T
c.1158C>T
c.233C>T
c.1381C>T (p.Pro461Ser)
c.72-23338C>T (n.72-23338C>T)
c.3217C>T (p.Pro1073Ser)
c.2832C>T
c.2369C>T
c.2117C>T
c.3295C>T (p.Pro1099Ser)
c.3241C>T (p.Pro1081Ser)
n.3310C>T
n.3398C>T
n.3270C>T
n.3146C>T
n.3406C>T
3g.47121419G>CCA352523316SETD2c.3085C>G (p.Pro1029Ala)
c.3118C>G (p.Pro1040Ala)
c.1097C>G
c.1158C>G
c.233C>G
c.1381C>G (p.Pro461Ala)
c.72-23338C>G (n.72-23338C>G)
c.3217C>G (p.Pro1073Ala)
c.2832C>G
c.2369C>G
c.2117C>G
c.3295C>G (p.Pro1099Ala)
c.3241C>G (p.Pro1081Ala)
n.3310C>G
n.3398C>G
n.3270C>G
n.3146C>G
n.3406C>G
3g.47121419G>TCA352523318SETD2c.3085C>A (p.Pro1029Thr)
c.3118C>A (p.Pro1040Thr)
c.1097C>A
c.1158C>A
c.233C>A
c.1381C>A (p.Pro461Thr)
c.72-23338C>A (n.72-23338C>A)
c.3217C>A (p.Pro1073Thr)
c.2832C>A
c.2369C>A
c.2117C>A
c.3295C>A (p.Pro1099Thr)
c.3241C>A (p.Pro1081Thr)
n.3310C>A
n.3398C>A
n.3270C>A
n.3146C>A
n.3406C>A
3g.47121420C>ACA433601416SETD2c.3084G>T (p.Val1028=)
c.3117G>T (p.Val1039=)
c.1096G>T
c.1157G>T
c.232G>T
c.1380G>T (p.Val460=)
c.72-23339G>T (n.72-23339G>T)
c.3216G>T (p.Val1072=)
c.2831G>T
c.2368G>T
c.2116G>T
c.3294G>T (p.Val1098=)
c.3240G>T (p.Val1080=)
n.3309G>T
n.3397G>T
n.3269G>T
n.3145G>T
n.3405G>T
 dbSNP
3g.47121420C>GCA433601417SETD2c.3084G>C (p.Val1028=)
c.3117G>C (p.Val1039=)
c.1096G>C
c.1157G>C
c.232G>C
c.1380G>C (p.Val460=)
c.72-23339G>C (n.72-23339G>C)
c.3216G>C (p.Val1072=)
c.2831G>C
c.2368G>C
c.2116G>C
c.3294G>C (p.Val1098=)
c.3240G>C (p.Val1080=)
n.3309G>C
n.3397G>C
n.3269G>C
n.3145G>C
n.3405G>C
 dbSNP
3g.47121420C>TCA433601418SETD2c.3084G>A (p.Val1028=)
c.3117G>A (p.Val1039=)
c.1096G>A
c.1157G>A
c.232G>A
c.1380G>A (p.Val460=)
c.72-23339G>A (n.72-23339G>A)
c.3216G>A (p.Val1072=)
c.2831G>A
c.2368G>A
c.2116G>A
c.3294G>A (p.Val1098=)
c.3240G>A (p.Val1080=)
n.3309G>A
n.3397G>A
n.3269G>A
n.3145G>A
n.3405G>A
 dbSNP
3g.47121426_47121431delCA2702615292SETD2c.3079_3084del (p.Val1027_Val1028del)
c.3112_3117del (p.Val1038_Val1039del)
c.1091_1096del
c.1152_1157del
c.227_232del
c.1375_1380del (p.Val459_Val460del)
c.72-23344_72-23339del (n.72-23344_72-23339del)
c.3211_3216del (p.Val1071_Val1072del)
c.2826_2831del
c.2363_2368del
c.2111_2116del
c.3289_3294del (p.Val1097_Val1098del)
c.3235_3240del (p.Val1079_Val1080del)
n.3304_3309del
n.3392_3397del
n.3264_3269del
n.3140_3145del
n.3400_3405del
 dbSNP
3g.47121421A>CCA352523320SETD2c.3083T>G (p.Val1028Gly)
c.3116T>G (p.Val1039Gly)
c.1095T>G
c.1156T>G
c.231T>G
c.1379T>G (p.Val460Gly)
c.72-23340T>G (n.72-23340T>G)
c.3215T>G (p.Val1072Gly)
c.2830T>G
c.2367T>G
c.2115T>G
c.3293T>G (p.Val1098Gly)
c.3239T>G (p.Val1080Gly)
n.3308T>G
n.3396T>G
n.3268T>G
n.3144T>G
n.3404T>G
 dbSNP
3g.47121421A>GCA352523323SETD2c.3083T>C (p.Val1028Ala)
c.3116T>C (p.Val1039Ala)
c.1095T>C
c.1156T>C
c.231T>C
c.1379T>C (p.Val460Ala)
c.72-23340T>C (n.72-23340T>C)
c.3215T>C (p.Val1072Ala)
c.2830T>C
c.2367T>C
c.2115T>C
c.3293T>C (p.Val1098Ala)
c.3239T>C (p.Val1080Ala)
n.3308T>C
n.3396T>C
n.3268T>C
n.3144T>C
n.3404T>C
3g.47121421A>TCA352523321SETD2c.3083T>A (p.Val1028Glu)
c.3116T>A (p.Val1039Glu)
c.1095T>A
c.1156T>A
c.231T>A
c.1379T>A (p.Val460Glu)
c.72-23340T>A (n.72-23340T>A)
c.3215T>A (p.Val1072Glu)
c.2830T>A
c.2367T>A
c.2115T>A
c.3293T>A (p.Val1098Glu)
c.3239T>A (p.Val1080Glu)
n.3308T>A
n.3396T>A
n.3268T>A
n.3144T>A
n.3404T>A
 dbSNP
3g.47121422C>ACA352523325SETD2c.3082G>T (p.Val1028Leu)
c.3115G>T (p.Val1039Leu)
c.1094G>T
c.1155G>T
c.230G>T
c.1378G>T (p.Val460Leu)
c.72-23341G>T (n.72-23341G>T)
c.3214G>T (p.Val1072Leu)
c.2829G>T
c.2366G>T
c.2114G>T
c.3292G>T (p.Val1098Leu)
c.3238G>T (p.Val1080Leu)
n.3307G>T
n.3395G>T
n.3267G>T
n.3143G>T
n.3403G>T
3g.47121422C>GCA352523327SETD2c.3082G>C (p.Val1028Leu)
c.3115G>C (p.Val1039Leu)
c.1094G>C
c.1155G>C
c.230G>C
c.1378G>C (p.Val460Leu)
c.72-23341G>C (n.72-23341G>C)
c.3214G>C (p.Val1072Leu)
c.2829G>C
c.2366G>C
c.2114G>C
c.3292G>C (p.Val1098Leu)
c.3238G>C (p.Val1080Leu)
n.3307G>C
n.3395G>C
n.3267G>C
n.3143G>C
n.3403G>C
 dbSNP
3g.47121422C>TCA352523328SETD2c.3082G>A (p.Val1028Met)
c.3115G>A (p.Val1039Met)
c.1094G>A
c.1155G>A
c.230G>A
c.1378G>A (p.Val460Met)
c.72-23341G>A (n.72-23341G>A)
c.3214G>A (p.Val1072Met)
c.2829G>A
c.2366G>A
c.2114G>A
c.3292G>A (p.Val1098Met)
c.3238G>A (p.Val1080Met)
n.3307G>A
n.3395G>A
n.3267G>A
n.3143G>A
n.3403G>A
 ClinVar dbSNP
3g.47121423A=CA1362408365SETD2c.3081T= (p.Val1027=)
c.3114T= (p.Val1038=)
c.1093T=
c.1154T=
c.229T=
c.1377T= (p.Val459=)
c.72-23342T= (n.72-23342T=)
c.3213T= (p.Val1071=)
c.2828T=
c.2365T=
c.2113T=
c.3291T= (p.Val1097=)
c.3237T= (p.Val1079=)
n.3306T=
n.3394T=
n.3266T=
n.3142T=
n.3402T=
3g.47121423A>CCA433601421SETD2c.3081T>G (p.Val1027=)
c.3114T>G (p.Val1038=)
c.1093T>G
c.1154T>G
c.229T>G
c.1377T>G (p.Val459=)
c.72-23342T>G (n.72-23342T>G)
c.3213T>G (p.Val1071=)
c.2828T>G
c.2365T>G
c.2113T>G
c.3291T>G (p.Val1097=)
c.3237T>G (p.Val1079=)
n.3306T>G
n.3394T>G
n.3266T>G
n.3142T>G
n.3402T>G
 dbSNP gnomAD v4
3g.47121423A>GCA433601422SETD2c.3081T>C (p.Val1027=)
c.3114T>C (p.Val1038=)
c.1093T>C
c.1154T>C
c.229T>C
c.1377T>C (p.Val459=)
c.72-23342T>C (n.72-23342T>C)
c.3213T>C (p.Val1071=)
c.2828T>C
c.2365T>C
c.2113T>C
c.3291T>C (p.Val1097=)
c.3237T>C (p.Val1079=)
n.3306T>C
n.3394T>C
n.3266T>C
n.3142T>C
n.3402T>C
3g.47121423A>TCA433601423SETD2c.3081T>A (p.Val1027=)
c.3114T>A (p.Val1038=)
c.1093T>A
c.1154T>A
c.229T>A
c.1377T>A (p.Val459=)
c.72-23342T>A (n.72-23342T>A)
c.3213T>A (p.Val1071=)
c.2828T>A
c.2365T>A
c.2113T>A
c.3291T>A (p.Val1097=)
c.3237T>A (p.Val1079=)
n.3306T>A
n.3394T>A
n.3266T>A
n.3142T>A
n.3402T>A
 dbSNP
3g.47121424A>CCA352523329SETD2c.3080T>G (p.Val1027Gly)
c.3113T>G (p.Val1038Gly)
c.1092T>G
c.1153T>G
c.228T>G
c.1376T>G (p.Val459Gly)
c.72-23343T>G (n.72-23343T>G)
c.3212T>G (p.Val1071Gly)
c.2827T>G
c.2364T>G
c.2112T>G
c.3290T>G (p.Val1097Gly)
c.3236T>G (p.Val1079Gly)
n.3305T>G
n.3393T>G
n.3265T>G
n.3141T>G
n.3401T>G
3g.47121424A>GCA352523331SETD2c.3080T>C (p.Val1027Ala)
c.3113T>C (p.Val1038Ala)
c.1092T>C
c.1153T>C
c.228T>C
c.1376T>C (p.Val459Ala)
c.72-23343T>C (n.72-23343T>C)
c.3212T>C (p.Val1071Ala)
c.2827T>C
c.2364T>C
c.2112T>C
c.3290T>C (p.Val1097Ala)
c.3236T>C (p.Val1079Ala)
n.3305T>C
n.3393T>C
n.3265T>C
n.3141T>C
n.3401T>C
3g.47121424A>TCA352523333SETD2c.3080T>A (p.Val1027Asp)
c.3113T>A (p.Val1038Asp)
c.1092T>A
c.1153T>A
c.228T>A
c.1376T>A (p.Val459Asp)
c.72-23343T>A (n.72-23343T>A)
c.3212T>A (p.Val1071Asp)
c.2827T>A
c.2364T>A
c.2112T>A
c.3290T>A (p.Val1097Asp)
c.3236T>A (p.Val1079Asp)
n.3305T>A
n.3393T>A
n.3265T>A
n.3141T>A
n.3401T>A
3g.47121425C>ACA352523337SETD2c.3079G>T (p.Val1027Phe)
c.3112G>T (p.Val1038Phe)
c.1091G>T
c.1152G>T
c.227G>T
c.1375G>T (p.Val459Phe)
c.72-23344G>T (n.72-23344G>T)
c.3211G>T (p.Val1071Phe)
c.2826G>T
c.2363G>T
c.2111G>T
c.3289G>T (p.Val1097Phe)
c.3235G>T (p.Val1079Phe)
n.3304G>T
n.3392G>T
n.3264G>T
n.3140G>T
n.3400G>T
 dbSNP
3g.47121425C=CA1362408369SETD2c.3079G= (p.Val1027=)
c.3112G= (p.Val1038=)
c.1091G=
c.1152G=
c.227G=
c.1375G= (p.Val459=)
c.72-23344G= (n.72-23344G=)
c.3211G= (p.Val1071=)
c.2826G=
c.2363G=
c.2111G=
c.3289G= (p.Val1097=)
c.3235G= (p.Val1079=)
n.3304G=
n.3392G=
n.3264G=
n.3140G=
n.3400G=
3g.47121425C>GCA352523335SETD2c.3079G>C (p.Val1027Leu)
c.3112G>C (p.Val1038Leu)
c.1091G>C
c.1152G>C
c.227G>C
c.1375G>C (p.Val459Leu)
c.72-23344G>C (n.72-23344G>C)
c.3211G>C (p.Val1071Leu)
c.2826G>C
c.2363G>C
c.2111G>C
c.3289G>C (p.Val1097Leu)
c.3235G>C (p.Val1079Leu)
n.3304G>C
n.3392G>C
n.3264G>C
n.3140G>C
n.3400G>C
 dbSNP
3g.47121425C>TCA352523334SETD2c.3079G>A (p.Val1027Ile)
c.3112G>A (p.Val1038Ile)
c.1091G>A
c.1152G>A
c.227G>A
c.1375G>A (p.Val459Ile)
c.72-23344G>A (n.72-23344G>A)
c.3211G>A (p.Val1071Ile)
c.2826G>A
c.2363G>A
c.2111G>A
c.3289G>A (p.Val1097Ile)
c.3235G>A (p.Val1079Ile)
n.3304G>A
n.3392G>A
n.3264G>A
n.3140G>A
n.3400G>A
 dbSNP gnomAD v3 gnomAD v4
3g.47121426C>ACA433601425SETD2c.3078G>T (p.Val1026=)
c.3111G>T (p.Val1037=)
c.1090G>T
c.1151G>T
c.226G>T
c.1374G>T (p.Val458=)
c.72-23345G>T (n.72-23345G>T)
c.3210G>T (p.Val1070=)
c.2825G>T
c.2362G>T
c.2110G>T
c.3288G>T (p.Val1096=)
c.3234G>T (p.Val1078=)
n.3303G>T
n.3391G>T
n.3263G>T
n.3139G>T
n.3399G>T
 dbSNP
3g.47121426C>GCA433601426SETD2c.3078G>C (p.Val1026=)
c.3111G>C (p.Val1037=)
c.1090G>C
c.1151G>C
c.226G>C
c.1374G>C (p.Val458=)
c.72-23345G>C (n.72-23345G>C)
c.3210G>C (p.Val1070=)
c.2825G>C
c.2362G>C
c.2110G>C
c.3288G>C (p.Val1096=)
c.3234G>C (p.Val1078=)
n.3303G>C
n.3391G>C
n.3263G>C
n.3139G>C
n.3399G>C
 dbSNP
3g.47121426C>TCA433601427SETD2c.3078G>A (p.Val1026=)
c.3111G>A (p.Val1037=)
c.1090G>A
c.1151G>A
c.226G>A
c.1374G>A (p.Val458=)
c.72-23345G>A (n.72-23345G>A)
c.3210G>A (p.Val1070=)
c.2825G>A
c.2362G>A
c.2110G>A
c.3288G>A (p.Val1096=)
c.3234G>A (p.Val1078=)
n.3303G>A
n.3391G>A
n.3263G>A
n.3139G>A
n.3399G>A
 dbSNP
3g.47121427A>CCA352523338SETD2c.3077T>G (p.Val1026Gly)
c.3110T>G (p.Val1037Gly)
c.1089T>G
c.1150T>G
c.225T>G
c.1373T>G (p.Val458Gly)
c.72-23346T>G (n.72-23346T>G)
c.3209T>G (p.Val1070Gly)
c.2824T>G
c.2361T>G
c.2109T>G
c.3287T>G (p.Val1096Gly)
c.3233T>G (p.Val1078Gly)
n.3302T>G
n.3390T>G
n.3262T>G
n.3138T>G
n.3398T>G
 dbSNP
3g.47121427A>GCA352523340SETD2c.3077T>C (p.Val1026Ala)
c.3110T>C (p.Val1037Ala)
c.1089T>C
c.1150T>C
c.225T>C
c.1373T>C (p.Val458Ala)
c.72-23346T>C (n.72-23346T>C)
c.3209T>C (p.Val1070Ala)
c.2824T>C
c.2361T>C
c.2109T>C
c.3287T>C (p.Val1096Ala)
c.3233T>C (p.Val1078Ala)
n.3302T>C
n.3390T>C
n.3262T>C
n.3138T>C
n.3398T>C
 dbSNP
3g.47121427A>TCA352523341SETD2c.3077T>A (p.Val1026Glu)
c.3110T>A (p.Val1037Glu)
c.1089T>A
c.1150T>A
c.225T>A
c.1373T>A (p.Val458Glu)
c.72-23346T>A (n.72-23346T>A)
c.3209T>A (p.Val1070Glu)
c.2824T>A
c.2361T>A
c.2109T>A
c.3287T>A (p.Val1096Glu)
c.3233T>A (p.Val1078Glu)
n.3302T>A
n.3390T>A
n.3262T>A
n.3138T>A
n.3398T>A
 dbSNP
3g.47121428C>ACA352523342SETD2c.3076G>T (p.Val1026Leu)
c.3109G>T (p.Val1037Leu)
c.1088G>T
c.1149G>T
c.224G>T
c.1372G>T (p.Val458Leu)
c.72-23347G>T (n.72-23347G>T)
c.3208G>T (p.Val1070Leu)
c.2823G>T
c.2360G>T
c.2108G>T
c.3286G>T (p.Val1096Leu)
c.3232G>T (p.Val1078Leu)
n.3301G>T
n.3389G>T
n.3261G>T
n.3137G>T
n.3397G>T
 dbSNP
3g.47121428C>GCA352523343SETD2c.3076G>C (p.Val1026Leu)
c.3109G>C (p.Val1037Leu)
c.1088G>C
c.1149G>C
c.224G>C
c.1372G>C (p.Val458Leu)
c.72-23347G>C (n.72-23347G>C)
c.3208G>C (p.Val1070Leu)
c.2823G>C
c.2360G>C
c.2108G>C
c.3286G>C (p.Val1096Leu)
c.3232G>C (p.Val1078Leu)
n.3301G>C
n.3389G>C
n.3261G>C
n.3137G>C
n.3397G>C
3g.47121428C>TCA352523345SETD2c.3076G>A (p.Val1026Met)
c.3109G>A (p.Val1037Met)
c.1088G>A
c.1149G>A
c.224G>A
c.1372G>A (p.Val458Met)
c.72-23347G>A (n.72-23347G>A)
c.3208G>A (p.Val1070Met)
c.2823G>A
c.2360G>A
c.2108G>A
c.3286G>A (p.Val1096Met)
c.3232G>A (p.Val1078Met)
n.3301G>A
n.3389G>A
n.3261G>A
n.3137G>A
n.3397G>A
 gnomAD v4
3g.47121429A>CCA433601428SETD2c.3075T>G (p.Val1025=)
c.3108T>G (p.Val1036=)
c.1087T>G
c.1148T>G
c.223T>G
c.1371T>G (p.Val457=)
c.72-23348T>G (n.72-23348T>G)
c.3207T>G (p.Val1069=)
c.2822T>G
c.2359T>G
c.2107T>G
c.3285T>G (p.Val1095=)
c.3231T>G (p.Val1077=)
n.3300T>G
n.3388T>G
n.3260T>G
n.3136T>G
n.3396T>G
 gnomAD v4
3g.47121429A>GCA433601429SETD2c.3075T>C (p.Val1025=)
c.3108T>C (p.Val1036=)
c.1087T>C
c.1148T>C
c.223T>C
c.1371T>C (p.Val457=)
c.72-23348T>C (n.72-23348T>C)
c.3207T>C (p.Val1069=)
c.2822T>C
c.2359T>C
c.2107T>C
c.3285T>C (p.Val1095=)
c.3231T>C (p.Val1077=)
n.3300T>C
n.3388T>C
n.3260T>C
n.3136T>C
n.3396T>C
 dbSNP
3g.47121429A>TCA433601430SETD2c.3075T>A (p.Val1025=)
c.3108T>A (p.Val1036=)
c.1087T>A
c.1148T>A
c.223T>A
c.1371T>A (p.Val457=)
c.72-23348T>A (n.72-23348T>A)
c.3207T>A (p.Val1069=)
c.2822T>A
c.2359T>A
c.2107T>A
c.3285T>A (p.Val1095=)
c.3231T>A (p.Val1077=)
n.3300T>A
n.3388T>A
n.3260T>A
n.3136T>A
n.3396T>A
 dbSNP
3g.47121430A=CA1362408398SETD2c.3074T= (p.Val1025=)
c.3107T= (p.Val1036=)
c.1086T=
c.1147T=
c.222T=
c.1370T= (p.Val457=)
c.72-23349T= (n.72-23349T=)
c.3206T= (p.Val1069=)
c.2821T=
c.2358T=
c.2106T=
c.3284T= (p.Val1095=)
c.3230T= (p.Val1077=)
n.3299T=
n.3387T=
n.3259T=
n.3135T=
n.3395T=
3g.47121430A>CCA352523347SETD2c.3074T>G (p.Val1025Gly)
c.3107T>G (p.Val1036Gly)
c.1086T>G
c.1147T>G
c.222T>G
c.1370T>G (p.Val457Gly)
c.72-23349T>G (n.72-23349T>G)
c.3206T>G (p.Val1069Gly)
c.2821T>G
c.2358T>G
c.2106T>G
c.3284T>G (p.Val1095Gly)
c.3230T>G (p.Val1077Gly)
n.3299T>G
n.3387T>G
n.3259T>G
n.3135T>G
n.3395T>G
 dbSNP
3g.47121430A>GCA352523350SETD2c.3074T>C (p.Val1025Ala)
c.3107T>C (p.Val1036Ala)
c.1086T>C
c.1147T>C
c.222T>C
c.1370T>C (p.Val457Ala)
c.72-23349T>C (n.72-23349T>C)
c.3206T>C (p.Val1069Ala)
c.2821T>C
c.2358T>C
c.2106T>C
c.3284T>C (p.Val1095Ala)
c.3230T>C (p.Val1077Ala)
n.3299T>C
n.3387T>C
n.3259T>C
n.3135T>C
n.3395T>C
 dbSNP gnomAD v2
3g.47121430A>TCA352523348SETD2c.3074T>A (p.Val1025Asp)
c.3107T>A (p.Val1036Asp)
c.1086T>A
c.1147T>A
c.222T>A
c.1370T>A (p.Val457Asp)
c.72-23349T>A (n.72-23349T>A)
c.3206T>A (p.Val1069Asp)
c.2821T>A
c.2358T>A
c.2106T>A
c.3284T>A (p.Val1095Asp)
c.3230T>A (p.Val1077Asp)
n.3299T>A
n.3387T>A
n.3259T>A
n.3135T>A
n.3395T>A
 dbSNP
3g.47121431C>ACA352523351SETD2c.3073G>T (p.Val1025Phe)
c.3106G>T (p.Val1036Phe)
c.1085G>T
c.1146G>T
c.221G>T
c.1369G>T (p.Val457Phe)
c.72-23350G>T (n.72-23350G>T)
c.3205G>T (p.Val1069Phe)
c.2820G>T
c.2357G>T
c.2105G>T
c.3283G>T (p.Val1095Phe)
c.3229G>T (p.Val1077Phe)
n.3298G>T
n.3386G>T
n.3258G>T
n.3134G>T
n.3394G>T
 dbSNP
3g.47121431C>GCA352523352SETD2c.3073G>C (p.Val1025Leu)
c.3106G>C (p.Val1036Leu)
c.1085G>C
c.1146G>C
c.221G>C
c.1369G>C (p.Val457Leu)
c.72-23350G>C (n.72-23350G>C)
c.3205G>C (p.Val1069Leu)
c.2820G>C
c.2357G>C
c.2105G>C
c.3283G>C (p.Val1095Leu)
c.3229G>C (p.Val1077Leu)
n.3298G>C
n.3386G>C
n.3258G>C
n.3134G>C
n.3394G>C
 dbSNP
3g.47121431C>TCA352523354SETD2c.3073G>A (p.Val1025Ile)
c.3106G>A (p.Val1036Ile)
c.1085G>A
c.1146G>A
c.221G>A
c.1369G>A (p.Val457Ile)
c.72-23350G>A (n.72-23350G>A)
c.3205G>A (p.Val1069Ile)
c.2820G>A
c.2357G>A
c.2105G>A
c.3283G>A (p.Val1095Ile)
c.3229G>A (p.Val1077Ile)
n.3298G>A
n.3386G>A
n.3258G>A
n.3134G>A
n.3394G>A
 dbSNP
3g.47121432A=CA1362408400SETD2c.3072T= (p.Ser1024=)
c.3105T= (p.Ser1035=)
c.1084T=
c.1145T=
c.220T=
c.1368T= (p.Ser456=)
c.72-23351T= (n.72-23351T=)
c.3204T= (p.Ser1068=)
c.2819T=
c.2356T=
c.2104T=
c.3282T= (p.Ser1094=)
c.3228T= (p.Ser1076=)
n.3297T=
n.3385T=
n.3257T=
n.3133T=
n.3393T=
3g.47121432A>CCA433601433SETD2c.3072T>G (p.Ser1024=)
c.3105T>G (p.Ser1035=)
c.1084T>G
c.1145T>G
c.220T>G
c.1368T>G (p.Ser456=)
c.72-23351T>G (n.72-23351T>G)
c.3204T>G (p.Ser1068=)
c.2819T>G
c.2356T>G
c.2104T>G
c.3282T>G (p.Ser1094=)
c.3228T>G (p.Ser1076=)
n.3297T>G
n.3385T>G
n.3257T>G
n.3133T>G
n.3393T>G
 gnomAD v4
3g.47121432A>GCA433601432SETD2c.3072T>C (p.Ser1024=)
c.3105T>C (p.Ser1035=)
c.1084T>C
c.1145T>C
c.220T>C
c.1368T>C (p.Ser456=)
c.72-23351T>C (n.72-23351T>C)
c.3204T>C (p.Ser1068=)
c.2819T>C
c.2356T>C
c.2104T>C
c.3282T>C (p.Ser1094=)
c.3228T>C (p.Ser1076=)
n.3297T>C
n.3385T>C
n.3257T>C
n.3133T>C
n.3393T>C
 dbSNP
3g.47121432A>TCA433601431SETD2c.3072T>A (p.Ser1024=)
c.3105T>A (p.Ser1035=)
c.1084T>A
c.1145T>A
c.220T>A
c.1368T>A (p.Ser456=)
c.72-23351T>A (n.72-23351T>A)
c.3204T>A (p.Ser1068=)
c.2819T>A
c.2356T>A
c.2104T>A
c.3282T>A (p.Ser1094=)
c.3228T>A (p.Ser1076=)
n.3297T>A
n.3385T>A
n.3257T>A
n.3133T>A
n.3393T>A
 dbSNP
3g.47121433G>ACA352523356SETD2c.3071C>T (p.Ser1024Phe)
c.3104C>T (p.Ser1035Phe)
c.1083C>T
c.1144C>T
c.219C>T
c.1367C>T (p.Ser456Phe)
c.72-23352C>T (n.72-23352C>T)
c.3203C>T (p.Ser1068Phe)
c.2818C>T
c.2355C>T
c.2103C>T
c.3281C>T (p.Ser1094Phe)
c.3227C>T (p.Ser1076Phe)
n.3296C>T
n.3384C>T
n.3256C>T
n.3132C>T
n.3392C>T
 dbSNP
3g.47121433G>CCA352523358SETD2c.3071C>G (p.Ser1024Cys)
c.3104C>G (p.Ser1035Cys)
c.1083C>G
c.1144C>G
c.219C>G
c.1367C>G (p.Ser456Cys)
c.72-23352C>G (n.72-23352C>G)
c.3203C>G (p.Ser1068Cys)
c.2818C>G
c.2355C>G
c.2103C>G
c.3281C>G (p.Ser1094Cys)
c.3227C>G (p.Ser1076Cys)
n.3296C>G
n.3384C>G
n.3256C>G
n.3132C>G
n.3392C>G
 dbSNP
3g.47121433G>TCA352523359SETD2c.3071C>A (p.Ser1024Tyr)
c.3104C>A (p.Ser1035Tyr)
c.1083C>A
c.1144C>A
c.219C>A
c.1367C>A (p.Ser456Tyr)
c.72-23352C>A (n.72-23352C>A)
c.3203C>A (p.Ser1068Tyr)
c.2818C>A
c.2355C>A
c.2103C>A
c.3281C>A (p.Ser1094Tyr)
c.3227C>A (p.Ser1076Tyr)
n.3296C>A
n.3384C>A
n.3256C>A
n.3132C>A
n.3392C>A
 dbSNP
3g.47121434A>CCA352523361SETD2c.3070T>G (p.Ser1024Ala)
c.3103T>G (p.Ser1035Ala)
c.1082T>G
c.1143T>G
c.218T>G
c.1366T>G (p.Ser456Ala)
c.72-23353T>G (n.72-23353T>G)
c.3202T>G (p.Ser1068Ala)
c.2817T>G
c.2354T>G
c.2102T>G
c.3280T>G (p.Ser1094Ala)
c.3226T>G (p.Ser1076Ala)
n.3295T>G
n.3383T>G
n.3255T>G
n.3131T>G
n.3391T>G
3g.47121434A>GCA352523363SETD2c.3070T>C (p.Ser1024Pro)
c.3103T>C (p.Ser1035Pro)
c.1082T>C
c.1143T>C
c.218T>C
c.1366T>C (p.Ser456Pro)
c.72-23353T>C (n.72-23353T>C)
c.3202T>C (p.Ser1068Pro)
c.2817T>C
c.2354T>C
c.2102T>C
c.3280T>C (p.Ser1094Pro)
c.3226T>C (p.Ser1076Pro)
n.3295T>C
n.3383T>C
n.3255T>C
n.3131T>C
n.3391T>C
 dbSNP
3g.47121434A>TCA352523364SETD2c.3070T>A (p.Ser1024Thr)
c.3103T>A (p.Ser1035Thr)
c.1082T>A
c.1143T>A
c.218T>A
c.1366T>A (p.Ser456Thr)
c.72-23353T>A (n.72-23353T>A)
c.3202T>A (p.Ser1068Thr)
c.2817T>A
c.2354T>A
c.2102T>A
c.3280T>A (p.Ser1094Thr)
c.3226T>A (p.Ser1076Thr)
n.3295T>A
n.3383T>A
n.3255T>A
n.3131T>A
n.3391T>A
 dbSNP
3g.47121435C>ACA352523366SETD2c.3069G>T (p.Gln1023His)
c.3102G>T (p.Gln1034His)
c.1081G>T
c.1142G>T
c.217G>T
c.1365G>T (p.Gln455His)
c.72-23354G>T (n.72-23354G>T)
c.3201G>T (p.Gln1067His)
c.2816G>T
c.2353G>T
c.2101G>T
c.3279G>T (p.Gln1093His)
c.3225G>T (p.Gln1075His)
n.3294G>T
n.3382G>T
n.3254G>T
n.3130G>T
n.3390G>T
 dbSNP
3g.47121435C=CA1362408406SETD2c.3069G= (p.Gln1023=)
c.3102G= (p.Gln1034=)
c.1081G=
c.1142G=
c.217G=
c.1365G= (p.Gln455=)
c.72-23354G= (n.72-23354G=)
c.3201G= (p.Gln1067=)
c.2816G=
c.2353G=
c.2101G=
c.3279G= (p.Gln1093=)
c.3225G= (p.Gln1075=)
n.3294G=
n.3382G=
n.3254G=
n.3130G=
n.3390G=
3g.47121435C>GCA352523367SETD2c.3069G>C (p.Gln1023His)
c.3102G>C (p.Gln1034His)
c.1081G>C
c.1142G>C
c.217G>C
c.1365G>C (p.Gln455His)
c.72-23354G>C (n.72-23354G>C)
c.3201G>C (p.Gln1067His)
c.2816G>C
c.2353G>C
c.2101G>C
c.3279G>C (p.Gln1093His)
c.3225G>C (p.Gln1075His)
n.3294G>C
n.3382G>C
n.3254G>C
n.3130G>C
n.3390G>C
 dbSNP
3g.47121435C>TCA433601434SETD2c.3069G>A (p.Gln1023=)
c.3102G>A (p.Gln1034=)
c.1081G>A
c.1142G>A
c.217G>A
c.1365G>A (p.Gln455=)
c.72-23354G>A (n.72-23354G>A)
c.3201G>A (p.Gln1067=)
c.2816G>A
c.2353G>A
c.2101G>A
c.3279G>A (p.Gln1093=)
c.3225G>A (p.Gln1075=)
n.3294G>A
n.3382G>A
n.3254G>A
n.3130G>A
n.3390G>A
 dbSNP gnomAD v4
3g.47121436T>ACA352523370SETD2c.3068A>T (p.Gln1023Leu)
c.3101A>T (p.Gln1034Leu)
c.1080A>T
c.1141A>T
c.216A>T
c.1364A>T (p.Gln455Leu)
c.72-23355A>T (n.72-23355A>T)
c.3200A>T (p.Gln1067Leu)
c.2815A>T
c.2352A>T
c.2100A>T
c.3278A>T (p.Gln1093Leu)
c.3224A>T (p.Gln1075Leu)
n.3293A>T
n.3381A>T
n.3253A>T
n.3129A>T
n.3389A>T
3g.47121436T>CCA352523373SETD2c.3068A>G (p.Gln1023Arg)
c.3101A>G (p.Gln1034Arg)
c.1080A>G
c.1141A>G
c.216A>G
c.1364A>G (p.Gln455Arg)
c.72-23355A>G (n.72-23355A>G)
c.3200A>G (p.Gln1067Arg)
c.2815A>G
c.2352A>G
c.2100A>G
c.3278A>G (p.Gln1093Arg)
c.3224A>G (p.Gln1075Arg)
n.3293A>G
n.3381A>G
n.3253A>G
n.3129A>G
n.3389A>G
 dbSNP gnomAD v4
3g.47121436T>GCA352523371SETD2c.3068A>C (p.Gln1023Pro)
c.3101A>C (p.Gln1034Pro)
c.1080A>C
c.1141A>C
c.216A>C
c.1364A>C (p.Gln455Pro)
c.72-23355A>C (n.72-23355A>C)
c.3200A>C (p.Gln1067Pro)
c.2815A>C
c.2352A>C
c.2100A>C
c.3278A>C (p.Gln1093Pro)
c.3224A>C (p.Gln1075Pro)
n.3293A>C
n.3381A>C
n.3253A>C
n.3129A>C
n.3389A>C
3g.47121436T=CA1362408408SETD2c.3068A= (p.Gln1023=)
c.3101A= (p.Gln1034=)
c.1080A=
c.1141A=
c.216A=
c.1364A= (p.Gln455=)
c.72-23355A= (n.72-23355A=)
c.3200A= (p.Gln1067=)
c.2815A=
c.2352A=
c.2100A=
c.3278A= (p.Gln1093=)
c.3224A= (p.Gln1075=)
n.3293A=
n.3381A=
n.3253A=
n.3129A=
n.3389A=
3g.47121437G>ACA352523375SETD2c.3067C>T (p.Gln1023Ter)
c.3100C>T (p.Gln1034Ter)
c.1079C>T
c.1140C>T
c.215C>T
c.1363C>T (p.Gln455Ter)
c.72-23356C>T (n.72-23356C>T)
c.3199C>T (p.Gln1067Ter)
c.2814C>T
c.2351C>T
c.2099C>T
c.3277C>T (p.Gln1093Ter)
c.3223C>T (p.Gln1075Ter)
n.3292C>T
n.3380C>T
n.3252C>T
n.3128C>T
n.3388C>T
 ClinVar gnomAD v4 COSMIC COSMIC
3g.47121437G>CCA352523377SETD2c.3067C>G (p.Gln1023Glu)
c.3100C>G (p.Gln1034Glu)
c.1079C>G
c.1140C>G
c.215C>G
c.1363C>G (p.Gln455Glu)
c.72-23356C>G (n.72-23356C>G)
c.3199C>G (p.Gln1067Glu)
c.2814C>G
c.2351C>G
c.2099C>G
c.3277C>G (p.Gln1093Glu)
c.3223C>G (p.Gln1075Glu)
n.3292C>G
n.3380C>G
n.3252C>G
n.3128C>G
n.3388C>G
3g.47121437G>TCA352523378SETD2c.3067C>A (p.Gln1023Lys)
c.3100C>A (p.Gln1034Lys)
c.1079C>A
c.1140C>A
c.215C>A
c.1363C>A (p.Gln455Lys)
c.72-23356C>A (n.72-23356C>A)
c.3199C>A (p.Gln1067Lys)
c.2814C>A
c.2351C>A
c.2099C>A
c.3277C>A (p.Gln1093Lys)
c.3223C>A (p.Gln1075Lys)
n.3292C>A
n.3380C>A
n.3252C>A
n.3128C>A
n.3388C>A
3g.47121438G>ACA2363424SETD2c.3066C>T (p.Leu1022=)
c.3099C>T (p.Leu1033=)
c.1078C>T
c.1139C>T
c.214C>T
c.1362C>T (p.Leu454=)
c.72-23357C>T (n.72-23357C>T)
c.3198C>T (p.Leu1066=)
c.2813C>T
c.2350C>T
c.2098C>T
c.3276C>T (p.Leu1092=)
c.3222C>T (p.Leu1074=)
n.3291C>T
n.3379C>T
n.3251C>T
n.3127C>T
n.3387C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47121438G>CCA433601436SETD2c.3066C>G (p.Leu1022=)
c.3099C>G (p.Leu1033=)
c.1078C>G
c.1139C>G
c.214C>G
c.1362C>G (p.Leu454=)
c.72-23357C>G (n.72-23357C>G)
c.3198C>G (p.Leu1066=)
c.2813C>G
c.2350C>G
c.2098C>G
c.3276C>G (p.Leu1092=)
c.3222C>G (p.Leu1074=)
n.3291C>G
n.3379C>G
n.3251C>G
n.3127C>G
n.3387C>G
 dbSNP COSMIC
3g.47121438G=CA1362408411SETD2c.3066C= (p.Leu1022=)
c.3099C= (p.Leu1033=)
c.1078C=
c.1139C=
c.214C=
c.1362C= (p.Leu454=)
c.72-23357C= (n.72-23357C=)
c.3198C= (p.Leu1066=)
c.2813C=
c.2350C=
c.2098C=
c.3276C= (p.Leu1092=)
c.3222C= (p.Leu1074=)
n.3291C=
n.3379C=
n.3251C=
n.3127C=
n.3387C=
3g.47121438G>TCA433601435SETD2c.3066C>A (p.Leu1022=)
c.3099C>A (p.Leu1033=)
c.1078C>A
c.1139C>A
c.214C>A
c.1362C>A (p.Leu454=)
c.72-23357C>A (n.72-23357C>A)
c.3198C>A (p.Leu1066=)
c.2813C>A
c.2350C>A
c.2098C>A
c.3276C>A (p.Leu1092=)
c.3222C>A (p.Leu1074=)
n.3291C>A
n.3379C>A
n.3251C>A
n.3127C>A
n.3387C>A
 dbSNP gnomAD v4
3g.47121439A>CCA352523381SETD2c.3065T>G (p.Leu1022Arg)
c.3098T>G (p.Leu1033Arg)
c.1077T>G
c.1138T>G
c.213T>G
c.1361T>G (p.Leu454Arg)
c.72-23358T>G (n.72-23358T>G)
c.3197T>G (p.Leu1066Arg)
c.2812T>G
c.2349T>G
c.2097T>G
c.3275T>G (p.Leu1092Arg)
c.3221T>G (p.Leu1074Arg)
n.3290T>G
n.3378T>G
n.3250T>G
n.3126T>G
n.3386T>G
3g.47121439A>GCA352523383SETD2c.3065T>C (p.Leu1022Pro)
c.3098T>C (p.Leu1033Pro)
c.1077T>C
c.1138T>C
c.213T>C
c.1361T>C (p.Leu454Pro)
c.72-23358T>C (n.72-23358T>C)
c.3197T>C (p.Leu1066Pro)
c.2812T>C
c.2349T>C
c.2097T>C
c.3275T>C (p.Leu1092Pro)
c.3221T>C (p.Leu1074Pro)
n.3290T>C
n.3378T>C
n.3250T>C
n.3126T>C
n.3386T>C
 dbSNP
3g.47121439A>TCA352523384SETD2c.3065T>A (p.Leu1022His)
c.3098T>A (p.Leu1033His)
c.1077T>A
c.1138T>A
c.213T>A
c.1361T>A (p.Leu454His)
c.72-23358T>A (n.72-23358T>A)
c.3197T>A (p.Leu1066His)
c.2812T>A
c.2349T>A
c.2097T>A
c.3275T>A (p.Leu1092His)
c.3221T>A (p.Leu1074His)
n.3290T>A
n.3378T>A
n.3250T>A
n.3126T>A
n.3386T>A
 dbSNP
3g.47121440G>ACA352523386SETD2c.3064C>T (p.Leu1022Phe)
c.3097C>T (p.Leu1033Phe)
c.1076C>T
c.1137C>T
c.212C>T
c.1360C>T (p.Leu454Phe)
c.72-23359C>T (n.72-23359C>T)
c.3196C>T (p.Leu1066Phe)
c.2811C>T
c.2348C>T
c.2096C>T
c.3274C>T (p.Leu1092Phe)
c.3220C>T (p.Leu1074Phe)
n.3289C>T
n.3377C>T
n.3249C>T
n.3125C>T
n.3385C>T
 dbSNP
3g.47121440G>CCA352523387SETD2c.3064C>G (p.Leu1022Val)
c.3097C>G (p.Leu1033Val)
c.1076C>G
c.1137C>G
c.212C>G
c.1360C>G (p.Leu454Val)
c.72-23359C>G (n.72-23359C>G)
c.3196C>G (p.Leu1066Val)
c.2811C>G
c.2348C>G
c.2096C>G
c.3274C>G (p.Leu1092Val)
c.3220C>G (p.Leu1074Val)
n.3289C>G
n.3377C>G
n.3249C>G
n.3125C>G
n.3385C>G
 dbSNP
3g.47121440G>TCA352523389SETD2c.3064C>A (p.Leu1022Ile)
c.3097C>A (p.Leu1033Ile)
c.1076C>A
c.1137C>A
c.212C>A
c.1360C>A (p.Leu454Ile)
c.72-23359C>A (n.72-23359C>A)
c.3196C>A (p.Leu1066Ile)
c.2811C>A
c.2348C>A
c.2096C>A
c.3274C>A (p.Leu1092Ile)
c.3220C>A (p.Leu1074Ile)
n.3289C>A
n.3377C>A
n.3249C>A
n.3125C>A
n.3385C>A
 dbSNP
3g.47121441A>CCA433601437SETD2c.3063T>G (p.Arg1021=)
c.3096T>G (p.Arg1032=)
c.1075T>G
c.1136T>G
c.211T>G
c.1359T>G (p.Arg453=)
c.72-23360T>G (n.72-23360T>G)
c.3195T>G (p.Arg1065=)
c.2810T>G
c.2347T>G
c.2095T>G
c.3273T>G (p.Arg1091=)
c.3219T>G (p.Arg1073=)
n.3288T>G
n.3376T>G
n.3248T>G
n.3124T>G
n.3384T>G
 dbSNP
3g.47121441A>GCA433601438SETD2c.3063T>C (p.Arg1021=)
c.3096T>C (p.Arg1032=)
c.1075T>C
c.1136T>C
c.211T>C
c.1359T>C (p.Arg453=)
c.72-23360T>C (n.72-23360T>C)
c.3195T>C (p.Arg1065=)
c.2810T>C
c.2347T>C
c.2095T>C
c.3273T>C (p.Arg1091=)
c.3219T>C (p.Arg1073=)
n.3288T>C
n.3376T>C
n.3248T>C
n.3124T>C
n.3384T>C
 dbSNP
3g.47121441A>TCA433601439SETD2c.3063T>A (p.Arg1021=)
c.3096T>A (p.Arg1032=)
c.1075T>A
c.1136T>A
c.211T>A
c.1359T>A (p.Arg453=)
c.72-23360T>A (n.72-23360T>A)
c.3195T>A (p.Arg1065=)
c.2810T>A
c.2347T>A
c.2095T>A
c.3273T>A (p.Arg1091=)
c.3219T>A (p.Arg1073=)
n.3288T>A
n.3376T>A
n.3248T>A
n.3124T>A
n.3384T>A
 dbSNP
3g.47121442C>ACA352523390SETD2c.3062G>T (p.Arg1021Leu)
c.3095G>T (p.Arg1032Leu)
c.1074G>T
c.1135G>T
c.210G>T
c.1358G>T (p.Arg453Leu)
c.72-23361G>T (n.72-23361G>T)
c.3194G>T (p.Arg1065Leu)
c.2809G>T
c.2346G>T
c.2094G>T
c.3272G>T (p.Arg1091Leu)
c.3218G>T (p.Arg1073Leu)
n.3287G>T
n.3375G>T
n.3247G>T
n.3123G>T
n.3383G>T
 dbSNP
3g.47121442C=CA1362408414SETD2c.3062G= (p.Arg1021=)
c.3095G= (p.Arg1032=)
c.1074G=
c.1135G=
c.210G=
c.1358G= (p.Arg453=)
c.72-23361G= (n.72-23361G=)
c.3194G= (p.Arg1065=)
c.2809G=
c.2346G=
c.2094G=
c.3272G= (p.Arg1091=)
c.3218G= (p.Arg1073=)
n.3287G=
n.3375G=
n.3247G=
n.3123G=
n.3383G=
3g.47121442C>GCA352523392SETD2c.3062G>C (p.Arg1021Pro)
c.3095G>C (p.Arg1032Pro)
c.1074G>C
c.1135G>C
c.210G>C
c.1358G>C (p.Arg453Pro)
c.72-23361G>C (n.72-23361G>C)
c.3194G>C (p.Arg1065Pro)
c.2809G>C
c.2346G>C
c.2094G>C
c.3272G>C (p.Arg1091Pro)
c.3218G>C (p.Arg1073Pro)
n.3287G>C
n.3375G>C
n.3247G>C
n.3123G>C
n.3383G>C
 dbSNP
3g.47121442C>TCA2363425SETD2c.3062G>A (p.Arg1021His)
c.3095G>A (p.Arg1032His)
c.1074G>A
c.1135G>A
c.210G>A
c.1358G>A (p.Arg453His)
c.72-23361G>A (n.72-23361G>A)
c.3194G>A (p.Arg1065His)
c.2809G>A
c.2346G>A
c.2094G>A
c.3272G>A (p.Arg1091His)
c.3218G>A (p.Arg1073His)
n.3287G>A
n.3375G>A
n.3247G>A
n.3123G>A
n.3383G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.47121443G>ACA2363426SETD2c.3061C>T (p.Arg1021Cys)
c.3094C>T (p.Arg1032Cys)
c.1073C>T
c.1134C>T
c.209C>T
c.1357C>T (p.Arg453Cys)
c.72-23362C>T (n.72-23362C>T)
c.3193C>T (p.Arg1065Cys)
c.2808C>T
c.2345C>T
c.2093C>T
c.3271C>T (p.Arg1091Cys)
c.3217C>T (p.Arg1073Cys)
n.3286C>T
n.3374C>T
n.3246C>T
n.3122C>T
n.3382C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47121443G>CCA352523397SETD2c.3061C>G (p.Arg1021Gly)
c.3094C>G (p.Arg1032Gly)
c.1073C>G
c.1134C>G
c.209C>G
c.1357C>G (p.Arg453Gly)
c.72-23362C>G (n.72-23362C>G)
c.3193C>G (p.Arg1065Gly)
c.2808C>G
c.2345C>G
c.2093C>G
c.3271C>G (p.Arg1091Gly)
c.3217C>G (p.Arg1073Gly)
n.3286C>G
n.3374C>G
n.3246C>G
n.3122C>G
n.3382C>G
 dbSNP
3g.47121443G=CA1362408420SETD2c.3061C= (p.Arg1021=)
c.3094C= (p.Arg1032=)
c.1073C=
c.1134C=
c.209C=
c.1357C= (p.Arg453=)
c.72-23362C= (n.72-23362C=)
c.3193C= (p.Arg1065=)
c.2808C=
c.2345C=
c.2093C=
c.3271C= (p.Arg1091=)
c.3217C= (p.Arg1073=)
n.3286C=
n.3374C=
n.3246C=
n.3122C=
n.3382C=
3g.47121443G>TCA352523395SETD2c.3061C>A (p.Arg1021Ser)
c.3094C>A (p.Arg1032Ser)
c.1073C>A
c.1134C>A
c.209C>A
c.1357C>A (p.Arg453Ser)
c.72-23362C>A (n.72-23362C>A)
c.3193C>A (p.Arg1065Ser)
c.2808C>A
c.2345C>A
c.2093C>A
c.3271C>A (p.Arg1091Ser)
c.3217C>A (p.Arg1073Ser)
n.3286C>A
n.3374C>A
n.3246C>A
n.3122C>A
n.3382C>A
 dbSNP
3g.47121444G>ACA433601440SETD2c.3060C>T (p.Asn1020=)
c.3093C>T (p.Asn1031=)
c.1072C>T
c.1133C>T
c.208C>T
c.1356C>T (p.Asn452=)
c.72-23363C>T (n.72-23363C>T)
c.3192C>T (p.Asn1064=)
c.2807C>T
c.2344C>T
c.2092C>T
c.3270C>T (p.Asn1090=)
c.3216C>T (p.Asn1072=)
n.3285C>T
n.3373C>T
n.3245C>T
n.3121C>T
n.3381C>T
 dbSNP
3g.47121444G>CCA352523399SETD2c.3060C>G (p.Asn1020Lys)
c.3093C>G (p.Asn1031Lys)
c.1072C>G
c.1133C>G
c.208C>G
c.1356C>G (p.Asn452Lys)
c.72-23363C>G (n.72-23363C>G)
c.3192C>G (p.Asn1064Lys)
c.2807C>G
c.2344C>G
c.2092C>G
c.3270C>G (p.Asn1090Lys)
c.3216C>G (p.Asn1072Lys)
n.3285C>G
n.3373C>G
n.3245C>G
n.3121C>G
n.3381C>G
 dbSNP
3g.47121444G=CA1362408422SETD2c.3060C= (p.Asn1020=)
c.3093C= (p.Asn1031=)
c.1072C=
c.1133C=
c.208C=
c.1356C= (p.Asn452=)
c.72-23363C= (n.72-23363C=)
c.3192C= (p.Asn1064=)
c.2807C=
c.2344C=
c.2092C=
c.3270C= (p.Asn1090=)
c.3216C= (p.Asn1072=)
n.3285C=
n.3373C=
n.3245C=
n.3121C=
n.3381C=
3g.47121444G>TCA352523401SETD2c.3060C>A (p.Asn1020Lys)
c.3093C>A (p.Asn1031Lys)
c.1072C>A
c.1133C>A
c.208C>A
c.1356C>A (p.Asn452Lys)
c.72-23363C>A (n.72-23363C>A)
c.3192C>A (p.Asn1064Lys)
c.2807C>A
c.2344C>A
c.2092C>A
c.3270C>A (p.Asn1090Lys)
c.3216C>A (p.Asn1072Lys)
n.3285C>A
n.3373C>A
n.3245C>A
n.3121C>A
n.3381C>A
 dbSNP
3g.47121445T>ACA352523402SETD2c.3059A>T (p.Asn1020Ile)
c.3092A>T (p.Asn1031Ile)
c.1071A>T
c.1132A>T
c.207A>T
c.1355A>T (p.Asn452Ile)
c.72-23364A>T (n.72-23364A>T)
c.3191A>T (p.Asn1064Ile)
c.2806A>T
c.2343A>T
c.2091A>T
c.3269A>T (p.Asn1090Ile)
c.3215A>T (p.Asn1072Ile)
n.3284A>T
n.3372A>T
n.3244A>T
n.3120A>T
n.3380A>T
 dbSNP
3g.47121445T>CCA352523404SETD2c.3059A>G (p.Asn1020Ser)
c.3092A>G (p.Asn1031Ser)
c.1071A>G
c.1132A>G
c.207A>G
c.1355A>G (p.Asn452Ser)
c.72-23364A>G (n.72-23364A>G)
c.3191A>G (p.Asn1064Ser)
c.2806A>G
c.2343A>G
c.2091A>G
c.3269A>G (p.Asn1090Ser)
c.3215A>G (p.Asn1072Ser)
n.3284A>G
n.3372A>G
n.3244A>G
n.3120A>G
n.3380A>G
 dbSNP
3g.47121445T>GCA352523405SETD2c.3059A>C (p.Asn1020Thr)
c.3092A>C (p.Asn1031Thr)
c.1071A>C
c.1132A>C
c.207A>C
c.1355A>C (p.Asn452Thr)
c.72-23364A>C (n.72-23364A>C)
c.3191A>C (p.Asn1064Thr)
c.2806A>C
c.2343A>C
c.2091A>C
c.3269A>C (p.Asn1090Thr)
c.3215A>C (p.Asn1072Thr)
n.3284A>C
n.3372A>C
n.3244A>C
n.3120A>C
n.3380A>C
 dbSNP
3g.47121446T>ACA352523406SETD2c.3058A>T (p.Asn1020Tyr)
c.3091A>T (p.Asn1031Tyr)
c.1070A>T
c.1131A>T
c.206A>T
c.1354A>T (p.Asn452Tyr)
c.72-23365A>T (n.72-23365A>T)
c.3190A>T (p.Asn1064Tyr)
c.2805A>T
c.2342A>T
c.2090A>T
c.3268A>T (p.Asn1090Tyr)
c.3214A>T (p.Asn1072Tyr)
n.3283A>T
n.3371A>T
n.3243A>T
n.3119A>T
n.3379A>T
 dbSNP
3g.47121446T>CCA352523407SETD2c.3058A>G (p.Asn1020Asp)
c.3091A>G (p.Asn1031Asp)
c.1070A>G
c.1131A>G
c.206A>G
c.1354A>G (p.Asn452Asp)
c.72-23365A>G (n.72-23365A>G)
c.3190A>G (p.Asn1064Asp)
c.2805A>G
c.2342A>G
c.2090A>G
c.3268A>G (p.Asn1090Asp)
c.3214A>G (p.Asn1072Asp)
n.3283A>G
n.3371A>G
n.3243A>G
n.3119A>G
n.3379A>G
 dbSNP
3g.47121446T>GCA352523408SETD2c.3058A>C (p.Asn1020His)
c.3091A>C (p.Asn1031His)
c.1070A>C
c.1131A>C
c.206A>C
c.1354A>C (p.Asn452His)
c.72-23365A>C (n.72-23365A>C)
c.3190A>C (p.Asn1064His)
c.2805A>C
c.2342A>C
c.2090A>C
c.3268A>C (p.Asn1090His)
c.3214A>C (p.Asn1072His)
n.3283A>C
n.3371A>C
n.3243A>C
n.3119A>C
n.3379A>C
 dbSNP
3g.47121447T>ACA352523409SETD2c.3057A>T (p.Arg1019Ser)
c.3090A>T (p.Arg1030Ser)
c.1069A>T
c.1130A>T
c.205A>T
c.1353A>T (p.Arg451Ser)
c.72-23366A>T (n.72-23366A>T)
c.3189A>T (p.Arg1063Ser)
c.2804A>T
c.2341A>T
c.2089A>T
c.3267A>T (p.Arg1089Ser)
c.3213A>T (p.Arg1071Ser)
n.3282A>T
n.3370A>T
n.3242A>T
n.3118A>T
n.3378A>T
 dbSNP
3g.47121447T>CCA433601441SETD2c.3057A>G (p.Arg1019=)
c.3090A>G (p.Arg1030=)
c.1069A>G
c.1130A>G
c.205A>G
c.1353A>G (p.Arg451=)
c.72-23366A>G (n.72-23366A>G)
c.3189A>G (p.Arg1063=)
c.2804A>G
c.2341A>G
c.2089A>G
c.3267A>G (p.Arg1089=)
c.3213A>G (p.Arg1071=)
n.3282A>G
n.3370A>G
n.3242A>G
n.3118A>G
n.3378A>G
3g.47121447T>GCA352523410SETD2c.3057A>C (p.Arg1019Ser)
c.3090A>C (p.Arg1030Ser)
c.1069A>C
c.1130A>C
c.205A>C
c.1353A>C (p.Arg451Ser)
c.72-23366A>C (n.72-23366A>C)
c.3189A>C (p.Arg1063Ser)
c.2804A>C
c.2341A>C
c.2089A>C
c.3267A>C (p.Arg1089Ser)
c.3213A>C (p.Arg1071Ser)
n.3282A>C
n.3370A>C
n.3242A>C
n.3118A>C
n.3378A>C
3g.47121448C>ACA352523413SETD2c.3056G>T (p.Arg1019Ile)
c.3089G>T (p.Arg1030Ile)
c.1068G>T
c.1129G>T
c.204G>T
c.1352G>T (p.Arg451Ile)
c.72-23367G>T (n.72-23367G>T)
c.3188G>T (p.Arg1063Ile)
c.2803G>T
c.2340G>T
c.2088G>T
c.3266G>T (p.Arg1089Ile)
c.3212G>T (p.Arg1071Ile)
n.3281G>T
n.3369G>T
n.3241G>T
n.3117G>T
n.3377G>T
 dbSNP gnomAD v3 gnomAD v4
3g.47121448C=CA1362408423SETD2c.3056G= (p.Arg1019=)
c.3089G= (p.Arg1030=)
c.1068G=
c.1129G=
c.204G=
c.1352G= (p.Arg451=)
c.72-23367G= (n.72-23367G=)
c.3188G= (p.Arg1063=)
c.2803G=
c.2340G=
c.2088G=
c.3266G= (p.Arg1089=)
c.3212G= (p.Arg1071=)
n.3281G=
n.3369G=
n.3241G=
n.3117G=
n.3377G=
3g.47121448C>GCA352523412SETD2c.3056G>C (p.Arg1019Thr)
c.3089G>C (p.Arg1030Thr)
c.1068G>C
c.1129G>C
c.204G>C
c.1352G>C (p.Arg451Thr)
c.72-23367G>C (n.72-23367G>C)
c.3188G>C (p.Arg1063Thr)
c.2803G>C
c.2340G>C
c.2088G>C
c.3266G>C (p.Arg1089Thr)
c.3212G>C (p.Arg1071Thr)
n.3281G>C
n.3369G>C
n.3241G>C
n.3117G>C
n.3377G>C
3g.47121448C>TCA352523411SETD2c.3056G>A (p.Arg1019Lys)
c.3089G>A (p.Arg1030Lys)
c.1068G>A
c.1129G>A
c.204G>A
c.1352G>A (p.Arg451Lys)
c.72-23367G>A (n.72-23367G>A)
c.3188G>A (p.Arg1063Lys)
c.2803G>A
c.2340G>A
c.2088G>A
c.3266G>A (p.Arg1089Lys)
c.3212G>A (p.Arg1071Lys)
n.3281G>A
n.3369G>A
n.3241G>A
n.3117G>A
n.3377G>A
 dbSNP
3g.47121449T>ACA352523415SETD2c.3055A>T (p.Arg1019Ter)
c.3088A>T (p.Arg1030Ter)
c.1067A>T
c.1128A>T
c.203A>T
c.1351A>T (p.Arg451Ter)
c.72-23368A>T (n.72-23368A>T)
c.3187A>T (p.Arg1063Ter)
c.2802A>T
c.2339A>T
c.2087A>T
c.3265A>T (p.Arg1089Ter)
c.3211A>T (p.Arg1071Ter)
n.3280A>T
n.3368A>T
n.3240A>T
n.3116A>T
n.3376A>T
 dbSNP COSMIC COSMIC
3g.47121449T>CCA352523417SETD2c.3055A>G (p.Arg1019Gly)
c.3088A>G (p.Arg1030Gly)
c.1067A>G
c.1128A>G
c.203A>G
c.1351A>G (p.Arg451Gly)
c.72-23368A>G (n.72-23368A>G)
c.3187A>G (p.Arg1063Gly)
c.2802A>G
c.2339A>G
c.2087A>G
c.3265A>G (p.Arg1089Gly)
c.3211A>G (p.Arg1071Gly)
n.3280A>G
n.3368A>G
n.3240A>G
n.3116A>G
n.3376A>G
 ClinVar
3g.47121449T>GCA433601442SETD2c.3055A>C (p.Arg1019=)
c.3088A>C (p.Arg1030=)
c.1067A>C
c.1128A>C
c.203A>C
c.1351A>C (p.Arg451=)
c.72-23368A>C (n.72-23368A>C)
c.3187A>C (p.Arg1063=)
c.2802A>C
c.2339A>C
c.2087A>C
c.3265A>C (p.Arg1089=)
c.3211A>C (p.Arg1071=)
n.3280A>C
n.3368A>C
n.3240A>C
n.3116A>C
n.3376A>C
3g.47121450T>ACA433601443SETD2c.3054A>T (p.Pro1018=)
c.3087A>T (p.Pro1029=)
c.1066A>T
c.1127A>T
c.202A>T
c.1350A>T (p.Pro450=)
c.72-23369A>T (n.72-23369A>T)
c.3186A>T (p.Pro1062=)
c.2801A>T
c.2338A>T
c.2086A>T
c.3264A>T (p.Pro1088=)
c.3210A>T (p.Pro1070=)
n.3279A>T
n.3367A>T
n.3239A>T
n.3115A>T
n.3375A>T
3g.47121450T>CCA433601444SETD2c.3054A>G (p.Pro1018=)
c.3087A>G (p.Pro1029=)
c.1066A>G
c.1127A>G
c.202A>G
c.1350A>G (p.Pro450=)
c.72-23369A>G (n.72-23369A>G)
c.3186A>G (p.Pro1062=)
c.2801A>G
c.2338A>G
c.2086A>G
c.3264A>G (p.Pro1088=)
c.3210A>G (p.Pro1070=)
n.3279A>G
n.3367A>G
n.3239A>G
n.3115A>G
n.3375A>G
3g.47121450T>GCA433601445SETD2c.3054A>C (p.Pro1018=)
c.3087A>C (p.Pro1029=)
c.1066A>C
c.1127A>C
c.202A>C
c.1350A>C (p.Pro450=)
c.72-23369A>C (n.72-23369A>C)
c.3186A>C (p.Pro1062=)
c.2801A>C
c.2338A>C
c.2086A>C
c.3264A>C (p.Pro1088=)
c.3210A>C (p.Pro1070=)
n.3279A>C
n.3367A>C
n.3239A>C
n.3115A>C
n.3375A>C
3g.47121451G>ACA352523419SETD2c.3053C>T (p.Pro1018Leu)
c.3086C>T (p.Pro1029Leu)
c.1065C>T
c.1126C>T
c.201C>T
c.1349C>T (p.Pro450Leu)
c.72-23370C>T (n.72-23370C>T)
c.3185C>T (p.Pro1062Leu)
c.2800C>T
c.2337C>T
c.2085C>T
c.3263C>T (p.Pro1088Leu)
c.3209C>T (p.Pro1070Leu)
n.3278C>T
n.3366C>T
n.3238C>T
n.3114C>T
n.3374C>T
 dbSNP
3g.47121451G>CCA352523420SETD2c.3053C>G (p.Pro1018Arg)
c.3086C>G (p.Pro1029Arg)
c.1065C>G
c.1126C>G
c.201C>G
c.1349C>G (p.Pro450Arg)
c.72-23370C>G (n.72-23370C>G)
c.3185C>G (p.Pro1062Arg)
c.2800C>G
c.2337C>G
c.2085C>G
c.3263C>G (p.Pro1088Arg)
c.3209C>G (p.Pro1070Arg)
n.3278C>G
n.3366C>G
n.3238C>G
n.3114C>G
n.3374C>G
 dbSNP
3g.47121451G=CA1362408424SETD2c.3053C= (p.Pro1018=)
c.3086C= (p.Pro1029=)
c.1065C=
c.1126C=
c.201C=
c.1349C= (p.Pro450=)
c.72-23370C= (n.72-23370C=)
c.3185C= (p.Pro1062=)
c.2800C=
c.2337C=
c.2085C=
c.3263C= (p.Pro1088=)
c.3209C= (p.Pro1070=)
n.3278C=
n.3366C=
n.3238C=
n.3114C=
n.3374C=
3g.47121451G>TCA352523421SETD2c.3053C>A (p.Pro1018Gln)
c.3086C>A (p.Pro1029Gln)
c.1065C>A
c.1126C>A
c.201C>A
c.1349C>A (p.Pro450Gln)
c.72-23370C>A (n.72-23370C>A)
c.3185C>A (p.Pro1062Gln)
c.2800C>A
c.2337C>A
c.2085C>A
c.3263C>A (p.Pro1088Gln)
c.3209C>A (p.Pro1070Gln)
n.3278C>A
n.3366C>A
n.3238C>A
n.3114C>A
n.3374C>A
 dbSNP gnomAD v3 gnomAD v4
3g.47121452G>ACA352523424SETD2c.3052C>T (p.Pro1018Ser)
c.3085C>T (p.Pro1029Ser)
c.1064C>T
c.1125C>T
c.200C>T
c.1348C>T (p.Pro450Ser)
c.72-23371C>T (n.72-23371C>T)
c.3184C>T (p.Pro1062Ser)
c.2799C>T
c.2336C>T
c.2084C>T
c.3262C>T (p.Pro1088Ser)
c.3208C>T (p.Pro1070Ser)
n.3277C>T
n.3365C>T
n.3237C>T
n.3113C>T
n.3373C>T
 dbSNP
3g.47121452G>CCA352523425SETD2c.3052C>G (p.Pro1018Ala)
c.3085C>G (p.Pro1029Ala)
c.1064C>G
c.1125C>G
c.200C>G
c.1348C>G (p.Pro450Ala)
c.72-23371C>G (n.72-23371C>G)
c.3184C>G (p.Pro1062Ala)
c.2799C>G
c.2336C>G
c.2084C>G
c.3262C>G (p.Pro1088Ala)
c.3208C>G (p.Pro1070Ala)
n.3277C>G
n.3365C>G
n.3237C>G
n.3113C>G
n.3373C>G
 dbSNP
3g.47121452G>TCA352523426SETD2c.3052C>A (p.Pro1018Thr)
c.3085C>A (p.Pro1029Thr)
c.1064C>A
c.1125C>A
c.200C>A
c.1348C>A (p.Pro450Thr)
c.72-23371C>A (n.72-23371C>A)
c.3184C>A (p.Pro1062Thr)
c.2799C>A
c.2336C>A
c.2084C>A
c.3262C>A (p.Pro1088Thr)
c.3208C>A (p.Pro1070Thr)
n.3277C>A
n.3365C>A
n.3237C>A
n.3113C>A
n.3373C>A
 dbSNP
3g.47121453A=CA1362408425SETD2c.3051T= (p.Ile1017=)
c.3084T= (p.Ile1028=)
c.1063T=
c.1124T=
c.199T=
c.1347T= (p.Ile449=)
c.72-23372T= (n.72-23372T=)
c.3183T= (p.Ile1061=)
c.2798T=
c.2335T=
c.2083T=
c.3261T= (p.Ile1087=)
c.3207T= (p.Ile1069=)
n.3276T=
n.3364T=
n.3236T=
n.3112T=
n.3372T=
3g.47121453A>CCA352523428SETD2c.3051T>G (p.Ile1017Met)
c.3084T>G (p.Ile1028Met)
c.1063T>G
c.1124T>G
c.199T>G
c.1347T>G (p.Ile449Met)
c.72-23372T>G (n.72-23372T>G)
c.3183T>G (p.Ile1061Met)
c.2798T>G
c.2335T>G
c.2083T>G
c.3261T>G (p.Ile1087Met)
c.3207T>G (p.Ile1069Met)
n.3276T>G
n.3364T>G
n.3236T>G
n.3112T>G
n.3372T>G
3g.47121453A>GCA433601446SETD2c.3051T>C (p.Ile1017=)
c.3084T>C (p.Ile1028=)
c.1063T>C
c.1124T>C
c.199T>C
c.1347T>C (p.Ile449=)
c.72-23372T>C (n.72-23372T>C)
c.3183T>C (p.Ile1061=)
c.2798T>C
c.2335T>C
c.2083T>C
c.3261T>C (p.Ile1087=)
c.3207T>C (p.Ile1069=)
n.3276T>C
n.3364T>C
n.3236T>C
n.3112T>C
n.3372T>C
 dbSNP
3g.47121453A>TCA433601447SETD2c.3051T>A (p.Ile1017=)
c.3084T>A (p.Ile1028=)
c.1063T>A
c.1124T>A
c.199T>A
c.1347T>A (p.Ile449=)
c.72-23372T>A (n.72-23372T>A)
c.3183T>A (p.Ile1061=)
c.2798T>A
c.2335T>A
c.2083T>A
c.3261T>A (p.Ile1087=)
c.3207T>A (p.Ile1069=)
n.3276T>A
n.3364T>A
n.3236T>A
n.3112T>A
n.3372T>A
 dbSNP
3g.47121454A>CCA352523430SETD2c.3050T>G (p.Ile1017Ser)
c.3083T>G (p.Ile1028Ser)
c.1062T>G
c.1123T>G
c.198T>G
c.1346T>G (p.Ile449Ser)
c.72-23373T>G (n.72-23373T>G)
c.3182T>G (p.Ile1061Ser)
c.2797T>G
c.2334T>G
c.2082T>G
c.3260T>G (p.Ile1087Ser)
c.3206T>G (p.Ile1069Ser)
n.3275T>G
n.3363T>G
n.3235T>G
n.3111T>G
n.3371T>G
3g.47121454A>GCA352523432SETD2c.3050T>C (p.Ile1017Thr)
c.3083T>C (p.Ile1028Thr)
c.1062T>C
c.1123T>C
c.198T>C
c.1346T>C (p.Ile449Thr)
c.72-23373T>C (n.72-23373T>C)
c.3182T>C (p.Ile1061Thr)
c.2797T>C
c.2334T>C
c.2082T>C
c.3260T>C (p.Ile1087Thr)
c.3206T>C (p.Ile1069Thr)
n.3275T>C
n.3363T>C
n.3235T>C
n.3111T>C
n.3371T>C
 gnomAD v4
3g.47121454A>TCA352523433SETD2c.3050T>A (p.Ile1017Asn)
c.3083T>A (p.Ile1028Asn)
c.1062T>A
c.1123T>A
c.198T>A
c.1346T>A (p.Ile449Asn)
c.72-23373T>A (n.72-23373T>A)
c.3182T>A (p.Ile1061Asn)
c.2797T>A
c.2334T>A
c.2082T>A
c.3260T>A (p.Ile1087Asn)
c.3206T>A (p.Ile1069Asn)
n.3275T>A
n.3363T>A
n.3235T>A
n.3111T>A
n.3371T>A
 dbSNP
3g.47121455T>ACA352523435SETD2c.3049A>T (p.Ile1017Phe)
c.3082A>T (p.Ile1028Phe)
c.1061A>T
c.1122A>T
c.197A>T
c.1345A>T (p.Ile449Phe)
c.72-23374A>T (n.72-23374A>T)
c.3181A>T (p.Ile1061Phe)
c.2796A>T
c.2333A>T
c.2081A>T
c.3259A>T (p.Ile1087Phe)
c.3205A>T (p.Ile1069Phe)
n.3274A>T
n.3362A>T
n.3234A>T
n.3110A>T
n.3370A>T
 dbSNP
3g.47121455T>CCA352523437SETD2c.3049A>G (p.Ile1017Val)
c.3082A>G (p.Ile1028Val)
c.1061A>G
c.1122A>G
c.197A>G
c.1345A>G (p.Ile449Val)
c.72-23374A>G (n.72-23374A>G)
c.3181A>G (p.Ile1061Val)
c.2796A>G
c.2333A>G
c.2081A>G
c.3259A>G (p.Ile1087Val)
c.3205A>G (p.Ile1069Val)
n.3274A>G
n.3362A>G
n.3234A>G
n.3110A>G
n.3370A>G
 dbSNP
3g.47121455T>GCA352523438SETD2c.3049A>C (p.Ile1017Leu)
c.3082A>C (p.Ile1028Leu)
c.1061A>C
c.1122A>C
c.197A>C
c.1345A>C (p.Ile449Leu)
c.72-23374A>C (n.72-23374A>C)
c.3181A>C (p.Ile1061Leu)
c.2796A>C
c.2333A>C
c.2081A>C
c.3259A>C (p.Ile1087Leu)
c.3205A>C (p.Ile1069Leu)
n.3274A>C
n.3362A>C
n.3234A>C
n.3110A>C
n.3370A>C
 dbSNP
3g.47121456A>CCA352523441SETD2c.3048T>G (p.Ser1016Arg)
c.3081T>G (p.Ser1027Arg)
c.1060T>G
c.1121T>G
c.196T>G
c.1344T>G (p.Ser448Arg)
c.72-23375T>G (n.72-23375T>G)
c.3180T>G (p.Ser1060Arg)
c.2795T>G
c.2332T>G
c.2080T>G
c.3258T>G (p.Ser1086Arg)
c.3204T>G (p.Ser1068Arg)
n.3273T>G
n.3361T>G
n.3233T>G
n.3109T>G
n.3369T>G
 dbSNP
3g.47121456A>GCA433601448SETD2c.3048T>C (p.Ser1016=)
c.3081T>C (p.Ser1027=)
c.1060T>C
c.1121T>C
c.196T>C
c.1344T>C (p.Ser448=)
c.72-23375T>C (n.72-23375T>C)
c.3180T>C (p.Ser1060=)
c.2795T>C
c.2332T>C
c.2080T>C
c.3258T>C (p.Ser1086=)
c.3204T>C (p.Ser1068=)
n.3273T>C
n.3361T>C
n.3233T>C
n.3109T>C
n.3369T>C
 dbSNP
3g.47121456A>TCA352523440SETD2c.3048T>A (p.Ser1016Arg)
c.3081T>A (p.Ser1027Arg)
c.1060T>A
c.1121T>A
c.196T>A
c.1344T>A (p.Ser448Arg)
c.72-23375T>A (n.72-23375T>A)
c.3180T>A (p.Ser1060Arg)
c.2795T>A
c.2332T>A
c.2080T>A
c.3258T>A (p.Ser1086Arg)
c.3204T>A (p.Ser1068Arg)
n.3273T>A
n.3361T>A
n.3233T>A
n.3109T>A
n.3369T>A
 dbSNP
3g.47121457C>ACA352523443SETD2c.3047G>T (p.Ser1016Ile)
c.3080G>T (p.Ser1027Ile)
c.1059G>T
c.1120G>T
c.195G>T
c.1343G>T (p.Ser448Ile)
c.72-23376G>T (n.72-23376G>T)
c.3179G>T (p.Ser1060Ile)
c.2794G>T
c.2331G>T
c.2079G>T
c.3257G>T (p.Ser1086Ile)
c.3203G>T (p.Ser1068Ile)
n.3272G>T
n.3360G>T
n.3232G>T
n.3108G>T
n.3368G>T
 dbSNP
3g.47121457C=CA1362408426SETD2c.3047G= (p.Ser1016=)
c.3080G= (p.Ser1027=)
c.1059G=
c.1120G=
c.195G=
c.1343G= (p.Ser448=)
c.72-23376G= (n.72-23376G=)
c.3179G= (p.Ser1060=)
c.2794G=
c.2331G=
c.2079G=
c.3257G= (p.Ser1086=)
c.3203G= (p.Ser1068=)
n.3272G=
n.3360G=
n.3232G=
n.3108G=
n.3368G=
3g.47121457C>GCA352523445SETD2c.3047G>C (p.Ser1016Thr)
c.3080G>C (p.Ser1027Thr)
c.1059G>C
c.1120G>C
c.195G>C
c.1343G>C (p.Ser448Thr)
c.72-23376G>C (n.72-23376G>C)
c.3179G>C (p.Ser1060Thr)
c.2794G>C
c.2331G>C
c.2079G>C
c.3257G>C (p.Ser1086Thr)
c.3203G>C (p.Ser1068Thr)
n.3272G>C
n.3360G>C
n.3232G>C
n.3108G>C
n.3368G>C
 dbSNP gnomAD v4
3g.47121457C>TCA73809351SETD2c.3047G>A (p.Ser1016Asn)
c.3080G>A (p.Ser1027Asn)
c.1059G>A
c.1120G>A
c.195G>A
c.1343G>A (p.Ser448Asn)
c.72-23376G>A (n.72-23376G>A)
c.3179G>A (p.Ser1060Asn)
c.2794G>A
c.2331G>A
c.2079G>A
c.3257G>A (p.Ser1086Asn)
c.3203G>A (p.Ser1068Asn)
n.3272G>A
n.3360G>A
n.3232G>A
n.3108G>A
n.3368G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47121458T>ACA352523447SETD2c.3046A>T (p.Ser1016Cys)
c.3079A>T (p.Ser1027Cys)
c.1058A>T
c.1119A>T
c.194A>T
c.1342A>T (p.Ser448Cys)
c.72-23377A>T (n.72-23377A>T)
c.3178A>T (p.Ser1060Cys)
c.2793A>T
c.2330A>T
c.2078A>T
c.3256A>T (p.Ser1086Cys)
c.3202A>T (p.Ser1068Cys)
n.3271A>T
n.3359A>T
n.3231A>T
n.3107A>T
n.3367A>T
 dbSNP
3g.47121458T>CCA352523449SETD2c.3046A>G (p.Ser1016Gly)
c.3079A>G (p.Ser1027Gly)
c.1058A>G
c.1119A>G
c.194A>G
c.1342A>G (p.Ser448Gly)
c.72-23377A>G (n.72-23377A>G)
c.3178A>G (p.Ser1060Gly)
c.2793A>G
c.2330A>G
c.2078A>G
c.3256A>G (p.Ser1086Gly)
c.3202A>G (p.Ser1068Gly)
n.3271A>G
n.3359A>G
n.3231A>G
n.3107A>G
n.3367A>G
 dbSNP gnomAD v2
3g.47121458T>GCA352523451SETD2c.3046A>C (p.Ser1016Arg)
c.3079A>C (p.Ser1027Arg)
c.1058A>C
c.1119A>C
c.194A>C
c.1342A>C (p.Ser448Arg)
c.72-23377A>C (n.72-23377A>C)
c.3178A>C (p.Ser1060Arg)
c.2793A>C
c.2330A>C
c.2078A>C
c.3256A>C (p.Ser1086Arg)
c.3202A>C (p.Ser1068Arg)
n.3271A>C
n.3359A>C
n.3231A>C
n.3107A>C
n.3367A>C
3g.47121458T=CA1362408432SETD2c.3046A= (p.Ser1016=)
c.3079A= (p.Ser1027=)
c.1058A=
c.1119A=
c.194A=
c.1342A= (p.Ser448=)
c.72-23377A= (n.72-23377A=)
c.3178A= (p.Ser1060=)
c.2793A=
c.2330A=
c.2078A=
c.3256A= (p.Ser1086=)
c.3202A= (p.Ser1068=)
n.3271A=
n.3359A=
n.3231A=
n.3107A=
n.3367A=
3g.47121459G>ACA433601449SETD2c.3045C>T (p.Ser1015=)
c.3078C>T (p.Ser1026=)
c.1057C>T
c.1118C>T
c.193C>T
c.1341C>T (p.Ser447=)
c.72-23378C>T (n.72-23378C>T)
c.3177C>T (p.Ser1059=)
c.2792C>T
c.2329C>T
c.2077C>T
c.3255C>T (p.Ser1085=)
c.3201C>T (p.Ser1067=)
n.3270C>T
n.3358C>T
n.3230C>T
n.3106C>T
n.3366C>T
 dbSNP
3g.47121459G>CCA352523452SETD2c.3045C>G (p.Ser1015Arg)
c.3078C>G (p.Ser1026Arg)
c.1057C>G
c.1118C>G
c.193C>G
c.1341C>G (p.Ser447Arg)
c.72-23378C>G (n.72-23378C>G)
c.3177C>G (p.Ser1059Arg)
c.2792C>G
c.2329C>G
c.2077C>G
c.3255C>G (p.Ser1085Arg)
c.3201C>G (p.Ser1067Arg)
n.3270C>G
n.3358C>G
n.3230C>G
n.3106C>G
n.3366C>G
 dbSNP gnomAD v4
3g.47121459G>TCA352523454SETD2c.3045C>A (p.Ser1015Arg)
c.3078C>A (p.Ser1026Arg)
c.1057C>A
c.1118C>A
c.193C>A
c.1341C>A (p.Ser447Arg)
c.72-23378C>A (n.72-23378C>A)
c.3177C>A (p.Ser1059Arg)
c.2792C>A
c.2329C>A
c.2077C>A
c.3255C>A (p.Ser1085Arg)
c.3201C>A (p.Ser1067Arg)
n.3270C>A
n.3358C>A
n.3230C>A
n.3106C>A
n.3366C>A
 dbSNP
3g.47121460C>ACA352523456SETD2c.3044G>T (p.Ser1015Ile)
c.3077G>T (p.Ser1026Ile)
c.1056G>T
c.1117G>T
c.192G>T
c.1340G>T (p.Ser447Ile)
c.72-23379G>T (n.72-23379G>T)
c.3176G>T (p.Ser1059Ile)
c.2791G>T
c.2328G>T
c.2076G>T
c.3254G>T (p.Ser1085Ile)
c.3200G>T (p.Ser1067Ile)
n.3269G>T
n.3357G>T
n.3229G>T
n.3105G>T
n.3365G>T
 dbSNP
3g.47121460C=CA1362408434SETD2c.3044G= (p.Ser1015=)
c.3077G= (p.Ser1026=)
c.1056G=
c.1117G=
c.192G=
c.1340G= (p.Ser447=)
c.72-23379G= (n.72-23379G=)
c.3176G= (p.Ser1059=)
c.2791G=
c.2328G=
c.2076G=
c.3254G= (p.Ser1085=)
c.3200G= (p.Ser1067=)
n.3269G=
n.3357G=
n.3229G=
n.3105G=
n.3365G=
3g.47121460C>GCA352523458SETD2c.3044G>C (p.Ser1015Thr)
c.3077G>C (p.Ser1026Thr)
c.1056G>C
c.1117G>C
c.192G>C
c.1340G>C (p.Ser447Thr)
c.72-23379G>C (n.72-23379G>C)
c.3176G>C (p.Ser1059Thr)
c.2791G>C
c.2328G>C
c.2076G>C
c.3254G>C (p.Ser1085Thr)
c.3200G>C (p.Ser1067Thr)
n.3269G>C
n.3357G>C
n.3229G>C
n.3105G>C
n.3365G>C
 dbSNP
3g.47121460C>TCA2363427SETD2c.3044G>A (p.Ser1015Asn)
c.3077G>A (p.Ser1026Asn)
c.1056G>A
c.1117G>A
c.192G>A
c.1340G>A (p.Ser447Asn)
c.72-23379G>A (n.72-23379G>A)
c.3176G>A (p.Ser1059Asn)
c.2791G>A
c.2328G>A
c.2076G>A
c.3254G>A (p.Ser1085Asn)
c.3200G>A (p.Ser1067Asn)
n.3269G>A
n.3357G>A
n.3229G>A
n.3105G>A
n.3365G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47121461T>ACA352523461SETD2c.3043A>T (p.Ser1015Cys)
c.3076A>T (p.Ser1026Cys)
c.1055A>T
c.1116A>T
c.191A>T
c.1339A>T (p.Ser447Cys)
c.72-23380A>T (n.72-23380A>T)
c.3175A>T (p.Ser1059Cys)
c.2790A>T
c.2327A>T
c.2075A>T
c.3253A>T (p.Ser1085Cys)
c.3199A>T (p.Ser1067Cys)
n.3268A>T
n.3356A>T
n.3228A>T
n.3104A>T
n.3364A>T
 dbSNP
3g.47121461T>CCA352523462SETD2c.3043A>G (p.Ser1015Gly)
c.3076A>G (p.Ser1026Gly)
c.1055A>G
c.1116A>G
c.191A>G
c.1339A>G (p.Ser447Gly)
c.72-23380A>G (n.72-23380A>G)
c.3175A>G (p.Ser1059Gly)
c.2790A>G
c.2327A>G
c.2075A>G
c.3253A>G (p.Ser1085Gly)
c.3199A>G (p.Ser1067Gly)
n.3268A>G
n.3356A>G
n.3228A>G
n.3104A>G
n.3364A>G
 gnomAD v4
3g.47121461T>GCA352523464SETD2c.3043A>C (p.Ser1015Arg)
c.3076A>C (p.Ser1026Arg)
c.1055A>C
c.1116A>C
c.191A>C
c.1339A>C (p.Ser447Arg)
c.72-23380A>C (n.72-23380A>C)
c.3175A>C (p.Ser1059Arg)
c.2790A>C
c.2327A>C
c.2075A>C
c.3253A>C (p.Ser1085Arg)
c.3199A>C (p.Ser1067Arg)
n.3268A>C
n.3356A>C
n.3228A>C
n.3104A>C
n.3364A>C
3g.47121462A=CA1362408436SETD2c.3042T= (p.Asp1014=)
c.3075T= (p.Asp1025=)
c.1054T=
c.1115T=
c.190T=
c.1338T= (p.Asp446=)
c.72-23381T= (n.72-23381T=)
c.3174T= (p.Asp1058=)
c.2789T=
c.2326T=
c.2074T=
c.3252T= (p.Asp1084=)
c.3198T= (p.Asp1066=)
n.3267T=
n.3355T=
n.3227T=
n.3103T=
n.3363T=
3g.47121462A>CCA352523466SETD2c.3042T>G (p.Asp1014Glu)
c.3075T>G (p.Asp1025Glu)
c.1054T>G
c.1115T>G
c.190T>G
c.1338T>G (p.Asp446Glu)
c.72-23381T>G (n.72-23381T>G)
c.3174T>G (p.Asp1058Glu)
c.2789T>G
c.2326T>G
c.2074T>G
c.3252T>G (p.Asp1084Glu)
c.3198T>G (p.Asp1066Glu)
n.3267T>G
n.3355T>G
n.3227T>G
n.3103T>G
n.3363T>G
 dbSNP
3g.47121462A>GCA73809371SETD2c.3042T>C (p.Asp1014=)
c.3075T>C (p.Asp1025=)
c.1054T>C
c.1115T>C
c.190T>C
c.1338T>C (p.Asp446=)
c.72-23381T>C (n.72-23381T>C)
c.3174T>C (p.Asp1058=)
c.2789T>C
c.2326T>C
c.2074T>C
c.3252T>C (p.Asp1084=)
c.3198T>C (p.Asp1066=)
n.3267T>C
n.3355T>C
n.3227T>C
n.3103T>C
n.3363T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47121462A>TCA352523468SETD2c.3042T>A (p.Asp1014Glu)
c.3075T>A (p.Asp1025Glu)
c.1054T>A
c.1115T>A
c.190T>A
c.1338T>A (p.Asp446Glu)
c.72-23381T>A (n.72-23381T>A)
c.3174T>A (p.Asp1058Glu)
c.2789T>A
c.2326T>A
c.2074T>A
c.3252T>A (p.Asp1084Glu)
c.3198T>A (p.Asp1066Glu)
n.3267T>A
n.3355T>A
n.3227T>A
n.3103T>A
n.3363T>A
 dbSNP
3g.47121463T>ACA352523469SETD2c.3041A>T (p.Asp1014Val)
c.3074A>T (p.Asp1025Val)
c.1053A>T
c.1114A>T
c.189A>T
c.1337A>T (p.Asp446Val)
c.72-23382A>T (n.72-23382A>T)
c.3173A>T (p.Asp1058Val)
c.2788A>T
c.2325A>T
c.2073A>T
c.3251A>T (p.Asp1084Val)
c.3197A>T (p.Asp1066Val)
n.3266A>T
n.3354A>T
n.3226A>T
n.3102A>T
n.3362A>T
 dbSNP
3g.47121463T>CCA352523471SETD2c.3041A>G (p.Asp1014Gly)
c.3074A>G (p.Asp1025Gly)
c.1053A>G
c.1114A>G
c.189A>G
c.1337A>G (p.Asp446Gly)
c.72-23382A>G (n.72-23382A>G)
c.3173A>G (p.Asp1058Gly)
c.2788A>G
c.2325A>G
c.2073A>G
c.3251A>G (p.Asp1084Gly)
c.3197A>G (p.Asp1066Gly)
n.3266A>G
n.3354A>G
n.3226A>G
n.3102A>G
n.3362A>G
3g.47121463T>GCA352523473SETD2c.3041A>C (p.Asp1014Ala)
c.3074A>C (p.Asp1025Ala)
c.1053A>C
c.1114A>C
c.189A>C
c.1337A>C (p.Asp446Ala)
c.72-23382A>C (n.72-23382A>C)
c.3173A>C (p.Asp1058Ala)
c.2788A>C
c.2325A>C
c.2073A>C
c.3251A>C (p.Asp1084Ala)
c.3197A>C (p.Asp1066Ala)
n.3266A>C
n.3354A>C
n.3226A>C
n.3102A>C
n.3362A>C
 dbSNP
3g.47121464C>ACA352523474SETD2c.3040G>T (p.Asp1014Tyr)
c.3073G>T (p.Asp1025Tyr)
c.1052G>T
c.1113G>T
c.188G>T
c.1336G>T (p.Asp446Tyr)
c.72-23383G>T (n.72-23383G>T)
c.3172G>T (p.Asp1058Tyr)
c.2787G>T
c.2324G>T
c.2072G>T
c.3250G>T (p.Asp1084Tyr)
c.3196G>T (p.Asp1066Tyr)
n.3265G>T
n.3353G>T
n.3225G>T
n.3101G>T
n.3361G>T
 dbSNP
3g.47121464C=CA1362408440SETD2c.3040G= (p.Asp1014=)
c.3073G= (p.Asp1025=)
c.1052G=
c.1113G=
c.188G=
c.1336G= (p.Asp446=)
c.72-23383G= (n.72-23383G=)
c.3172G= (p.Asp1058=)
c.2787G=
c.2324G=
c.2072G=
c.3250G= (p.Asp1084=)
c.3196G= (p.Asp1066=)
n.3265G=
n.3353G=
n.3225G=
n.3101G=
n.3361G=
3g.47121464C>GCA352523476SETD2c.3040G>C (p.Asp1014His)
c.3073G>C (p.Asp1025His)
c.1052G>C
c.1113G>C
c.188G>C
c.1336G>C (p.Asp446His)
c.72-23383G>C (n.72-23383G>C)
c.3172G>C (p.Asp1058His)
c.2787G>C
c.2324G>C
c.2072G>C
c.3250G>C (p.Asp1084His)
c.3196G>C (p.Asp1066His)
n.3265G>C
n.3353G>C
n.3225G>C
n.3101G>C
n.3361G>C
 dbSNP
3g.47121464C>TCA73809381SETD2c.3040G>A (p.Asp1014Asn)
c.3073G>A (p.Asp1025Asn)
c.1052G>A
c.1113G>A
c.188G>A
c.1336G>A (p.Asp446Asn)
c.72-23383G>A (n.72-23383G>A)
c.3172G>A (p.Asp1058Asn)
c.2787G>A
c.2324G>A
c.2072G>A
c.3250G>A (p.Asp1084Asn)
c.3196G>A (p.Asp1066Asn)
n.3265G>A
n.3353G>A
n.3225G>A
n.3101G>A
n.3361G>A
 dbSNP gnomAD v4
3g.47121465A>CCA352523477SETD2c.3039T>G (p.Asp1013Glu)
c.3072T>G (p.Asp1024Glu)
c.1051T>G
c.1112T>G
c.187T>G
c.1335T>G (p.Asp445Glu)
c.72-23384T>G (n.72-23384T>G)
c.3171T>G (p.Asp1057Glu)
c.2786T>G
c.2323T>G
c.2071T>G
c.3249T>G (p.Asp1083Glu)
c.3195T>G (p.Asp1065Glu)
n.3264T>G
n.3352T>G
n.3224T>G
n.3100T>G
n.3360T>G
 dbSNP
3g.47121465A>GCA433601450SETD2c.3039T>C (p.Asp1013=)
c.3072T>C (p.Asp1024=)
c.1051T>C
c.1112T>C
c.187T>C
c.1335T>C (p.Asp445=)
c.72-23384T>C (n.72-23384T>C)
c.3171T>C (p.Asp1057=)
c.2786T>C
c.2323T>C
c.2071T>C
c.3249T>C (p.Asp1083=)
c.3195T>C (p.Asp1065=)
n.3264T>C
n.3352T>C
n.3224T>C
n.3100T>C
n.3360T>C
 dbSNP
3g.47121465A>TCA352523478SETD2c.3039T>A (p.Asp1013Glu)
c.3072T>A (p.Asp1024Glu)
c.1051T>A
c.1112T>A
c.187T>A
c.1335T>A (p.Asp445Glu)
c.72-23384T>A (n.72-23384T>A)
c.3171T>A (p.Asp1057Glu)
c.2786T>A
c.2323T>A
c.2071T>A
c.3249T>A (p.Asp1083Glu)
c.3195T>A (p.Asp1065Glu)
n.3264T>A
n.3352T>A
n.3224T>A
n.3100T>A
n.3360T>A
 dbSNP
3g.47121466T>ACA352523479SETD2c.3038A>T (p.Asp1013Val)
c.3071A>T (p.Asp1024Val)
c.1050A>T
c.1111A>T
c.186A>T
c.1334A>T (p.Asp445Val)
c.72-23385A>T (n.72-23385A>T)
c.3170A>T (p.Asp1057Val)
c.2785A>T
c.2322A>T
c.2070A>T
c.3248A>T (p.Asp1083Val)
c.3194A>T (p.Asp1065Val)
n.3263A>T
n.3351A>T
n.3223A>T
n.3099A>T
n.3359A>T
 dbSNP COSMIC COSMIC
3g.47121466T>CCA352523480SETD2c.3038A>G (p.Asp1013Gly)
c.3071A>G (p.Asp1024Gly)
c.1050A>G
c.1111A>G
c.186A>G
c.1334A>G (p.Asp445Gly)
c.72-23385A>G (n.72-23385A>G)
c.3170A>G (p.Asp1057Gly)
c.2785A>G
c.2322A>G
c.2070A>G
c.3248A>G (p.Asp1083Gly)
c.3194A>G (p.Asp1065Gly)
n.3263A>G
n.3351A>G
n.3223A>G
n.3099A>G
n.3359A>G
 dbSNP gnomAD v2 gnomAD v4
3g.47121466T>GCA2363428SETD2c.3038A>C (p.Asp1013Ala)
c.3071A>C (p.Asp1024Ala)
c.1050A>C
c.1111A>C
c.186A>C
c.1334A>C (p.Asp445Ala)
c.72-23385A>C (n.72-23385A>C)
c.3170A>C (p.Asp1057Ala)
c.2785A>C
c.2322A>C
c.2070A>C
c.3248A>C (p.Asp1083Ala)
c.3194A>C (p.Asp1065Ala)
n.3263A>C
n.3351A>C
n.3223A>C
n.3099A>C
n.3359A>C
 dbSNP ExAC gnomAD v3 gnomAD v4
3g.47121466T=CA1362408444SETD2c.3038A= (p.Asp1013=)
c.3071A= (p.Asp1024=)
c.1050A=
c.1111A=
c.186A=
c.1334A= (p.Asp445=)
c.72-23385A= (n.72-23385A=)
c.3170A= (p.Asp1057=)
c.2785A=
c.2322A=
c.2070A=
c.3248A= (p.Asp1083=)
c.3194A= (p.Asp1065=)
n.3263A=
n.3351A=
n.3223A=
n.3099A=
n.3359A=
3g.47121467C>ACA352523481SETD2c.3037G>T (p.Asp1013Tyr)
c.3070G>T (p.Asp1024Tyr)
c.1049G>T
c.1110G>T
c.185G>T
c.1333G>T (p.Asp445Tyr)
c.72-23386G>T (n.72-23386G>T)
c.3169G>T (p.Asp1057Tyr)
c.2784G>T
c.2321G>T
c.2069G>T
c.3247G>T (p.Asp1083Tyr)
c.3193G>T (p.Asp1065Tyr)
n.3262G>T
n.3350G>T
n.3222G>T
n.3098G>T
n.3358G>T
 dbSNP
3g.47121467C>GCA352523482SETD2c.3037G>C (p.Asp1013His)
c.3070G>C (p.Asp1024His)
c.1049G>C
c.1110G>C
c.185G>C
c.1333G>C (p.Asp445His)
c.72-23386G>C (n.72-23386G>C)
c.3169G>C (p.Asp1057His)
c.2784G>C
c.2321G>C
c.2069G>C
c.3247G>C (p.Asp1083His)
c.3193G>C (p.Asp1065His)
n.3262G>C
n.3350G>C
n.3222G>C
n.3098G>C
n.3358G>C
 dbSNP
3g.47121467C>TCA352523483SETD2c.3037G>A (p.Asp1013Asn)
c.3070G>A (p.Asp1024Asn)
c.1049G>A
c.1110G>A
c.185G>A
c.1333G>A (p.Asp445Asn)
c.72-23386G>A (n.72-23386G>A)
c.3169G>A (p.Asp1057Asn)
c.2784G>A
c.2321G>A
c.2069G>A
c.3247G>A (p.Asp1083Asn)
c.3193G>A (p.Asp1065Asn)
n.3262G>A
n.3350G>A
n.3222G>A
n.3098G>A
n.3358G>A
 dbSNP
3g.47121468C>ACA433601451SETD2c.3036G>T (p.Ser1012=)
c.3069G>T (p.Ser1023=)
c.1048G>T
c.1109G>T
c.184G>T
c.1332G>T (p.Ser444=)
c.72-23387G>T (n.72-23387G>T)
c.3168G>T (p.Ser1056=)
c.2783G>T
c.2320G>T
c.2068G>T
c.3246G>T (p.Ser1082=)
c.3192G>T (p.Ser1064=)
n.3261G>T
n.3349G>T
n.3221G>T
n.3097G>T
n.3357G>T
 dbSNP gnomAD v3 gnomAD v4
3g.47121468C=CA1362408449SETD2c.3036G= (p.Ser1012=)
c.3069G= (p.Ser1023=)
c.1048G=
c.1109G=
c.184G=
c.1332G= (p.Ser444=)
c.72-23387G= (n.72-23387G=)
c.3168G= (p.Ser1056=)
c.2783G=
c.2320G=
c.2068G=
c.3246G= (p.Ser1082=)
c.3192G= (p.Ser1064=)
n.3261G=
n.3349G=
n.3221G=
n.3097G=
n.3357G=
3g.47121468C>GCA433601452SETD2c.3036G>C (p.Ser1012=)
c.3069G>C (p.Ser1023=)
c.1048G>C
c.1109G>C
c.184G>C
c.1332G>C (p.Ser444=)
c.72-23387G>C (n.72-23387G>C)
c.3168G>C (p.Ser1056=)
c.2783G>C
c.2320G>C
c.2068G>C
c.3246G>C (p.Ser1082=)
c.3192G>C (p.Ser1064=)
n.3261G>C
n.3349G>C
n.3221G>C
n.3097G>C
n.3357G>C
 dbSNP
3g.47121468C>TCA2363429SETD2c.3036G>A (p.Ser1012=)
c.3069G>A (p.Ser1023=)
c.1048G>A
c.1109G>A
c.184G>A
c.1332G>A (p.Ser444=)
c.72-23387G>A (n.72-23387G>A)
c.3168G>A (p.Ser1056=)
c.2783G>A
c.2320G>A
c.2068G>A
c.3246G>A (p.Ser1082=)
c.3192G>A (p.Ser1064=)
n.3261G>A
n.3349G>A
n.3221G>A
n.3097G>A
n.3357G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.47121468_47121483delinsCGAATCTGTATCTTCTCA1362408451SETD2c.3021_3036delinsAGAAGATACAGATTCG (p.Ser1007=)
c.3054_3069delinsAGAAGATACAGATTCG (p.Ser1018=)
c.1033_1048delinsAGAAGATACAGATTCG
c.1094_1109delinsAGAAGATACAGATTCG
c.169_184delinsAGAAGATACAGATTCG
c.1317_1332delinsAGAAGATACAGATTCG (p.Ser439=)
c.72-23402_72-23387delinsAGAAGATACAGATTCG (n.72-23402_72-23387delinsAGAAGATACAGATTCG)
c.3153_3168delinsAGAAGATACAGATTCG (p.Ser1051=)
c.2768_2783delinsAGAAGATACAGATTCG
c.2305_2320delinsAGAAGATACAGATTCG
c.2053_2068delinsAGAAGATACAGATTCG
c.3231_3246delinsAGAAGATACAGATTCG (p.Ser1077=)
c.3177_3192delinsAGAAGATACAGATTCG (p.Ser1059=)
n.3246_3261delinsAGAAGATACAGATTCG
n.3334_3349delinsAGAAGATACAGATTCG
n.3206_3221delinsAGAAGATACAGATTCG
n.3082_3097delinsAGAAGATACAGATTCG
n.3342_3357delinsAGAAGATACAGATTCG
3g.47121469G>ACA2363430SETD2c.3035C>T (p.Ser1012Leu)
c.3068C>T (p.Ser1023Leu)
c.1047C>T
c.1108C>T
c.183C>T
c.1331C>T (p.Ser444Leu)
c.72-23388C>T (n.72-23388C>T)
c.3167C>T (p.Ser1056Leu)
c.2782C>T
c.2319C>T
c.2067C>T
c.3245C>T (p.Ser1082Leu)
c.3191C>T (p.Ser1064Leu)
n.3260C>T
n.3348C>T
n.3220C>T
n.3096C>T
n.3356C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47121469G>CCA352523485SETD2c.3035C>G (p.Ser1012Trp)
c.3068C>G (p.Ser1023Trp)
c.1047C>G
c.1108C>G
c.183C>G
c.1331C>G (p.Ser444Trp)
c.72-23388C>G (n.72-23388C>G)
c.3167C>G (p.Ser1056Trp)
c.2782C>G
c.2319C>G
c.2067C>G
c.3245C>G (p.Ser1082Trp)
c.3191C>G (p.Ser1064Trp)
n.3260C>G
n.3348C>G
n.3220C>G
n.3096C>G
n.3356C>G
 dbSNP
3g.47121469G=CA1362408456SETD2c.3035C= (p.Ser1012=)
c.3068C= (p.Ser1023=)
c.1047C=
c.1108C=
c.183C=
c.1331C= (p.Ser444=)
c.72-23388C= (n.72-23388C=)
c.3167C= (p.Ser1056=)
c.2782C=
c.2319C=
c.2067C=
c.3245C= (p.Ser1082=)
c.3191C= (p.Ser1064=)
n.3260C=
n.3348C=
n.3220C=
n.3096C=
n.3356C=
3g.47121469G>TCA352523484SETD2c.3035C>A (p.Ser1012Ter)
c.3068C>A (p.Ser1023Ter)
c.1047C>A
c.1108C>A
c.183C>A
c.1331C>A (p.Ser444Ter)
c.72-23388C>A (n.72-23388C>A)
c.3167C>A (p.Ser1056Ter)
c.2782C>A
c.2319C>A
c.2067C>A
c.3245C>A (p.Ser1082Ter)
c.3191C>A (p.Ser1064Ter)
n.3260C>A
n.3348C>A
n.3220C>A
n.3096C>A
n.3356C>A
 dbSNP
3g.47121474_47121488delCA543042854SETD2c.3021_3035del (p.Glu1008_Ser1012del)
c.3054_3068del (p.Glu1019_Ser1023del)
c.1033_1047del
c.1094_1108del
c.169_183del
c.1317_1331del (p.Glu440_Ser444del)
c.72-23402_72-23388del (n.72-23402_72-23388del)
c.3153_3167del (p.Glu1052_Ser1056del)
c.2768_2782del
c.2305_2319del
c.2053_2067del
c.3231_3245del (p.Glu1078_Ser1082del)
c.3177_3191del (p.Glu1060_Ser1064del)
n.3246_3260del
n.3334_3348del
n.3206_3220del
n.3082_3096del
n.3342_3356del
 dbSNP gnomAD v2 gnomAD v4
3g.47121470A=CA1362408458SETD2c.3034T= (p.Ser1012=)
c.3067T= (p.Ser1023=)
c.1046T=
c.1107T=
c.182T=
c.1330T= (p.Ser444=)
c.72-23389T= (n.72-23389T=)
c.3166T= (p.Ser1056=)
c.2781T=
c.2318T=
c.2066T=
c.3244T= (p.Ser1082=)
c.3190T= (p.Ser1064=)
n.3259T=
n.3347T=
n.3219T=
n.3095T=
n.3355T=
3g.47121470A>CCA352523486SETD2c.3034T>G (p.Ser1012Ala)
c.3067T>G (p.Ser1023Ala)
c.1046T>G
c.1107T>G
c.182T>G
c.1330T>G (p.Ser444Ala)
c.72-23389T>G (n.72-23389T>G)
c.3166T>G (p.Ser1056Ala)
c.2781T>G
c.2318T>G
c.2066T>G
c.3244T>G (p.Ser1082Ala)
c.3190T>G (p.Ser1064Ala)
n.3259T>G
n.3347T>G
n.3219T>G
n.3095T>G
n.3355T>G
3g.47121470A>GCA352523487SETD2c.3034T>C (p.Ser1012Pro)
c.3067T>C (p.Ser1023Pro)
c.1046T>C
c.1107T>C
c.182T>C
c.1330T>C (p.Ser444Pro)
c.72-23389T>C (n.72-23389T>C)
c.3166T>C (p.Ser1056Pro)
c.2781T>C
c.2318T>C
c.2066T>C
c.3244T>C (p.Ser1082Pro)
c.3190T>C (p.Ser1064Pro)
n.3259T>C
n.3347T>C
n.3219T>C
n.3095T>C
n.3355T>C
 dbSNP
3g.47121470A>TCA352523488SETD2c.3034T>A (p.Ser1012Thr)
c.3067T>A (p.Ser1023Thr)
c.1046T>A
c.1107T>A
c.182T>A
c.1330T>A (p.Ser444Thr)
c.72-23389T>A (n.72-23389T>A)
c.3166T>A (p.Ser1056Thr)
c.2781T>A
c.2318T>A
c.2066T>A
c.3244T>A (p.Ser1082Thr)
c.3190T>A (p.Ser1064Thr)
n.3259T>A
n.3347T>A
n.3219T>A
n.3095T>A
n.3355T>A
 dbSNP
3g.47121471A>CCA352523489SETD2c.3033T>G (p.Asp1011Glu)
c.3066T>G (p.Asp1022Glu)
c.1045T>G
c.1106T>G
c.181T>G
c.1329T>G (p.Asp443Glu)
c.72-23390T>G (n.72-23390T>G)
c.3165T>G (p.Asp1055Glu)
c.2780T>G
c.2317T>G
c.2065T>G
c.3243T>G (p.Asp1081Glu)
c.3189T>G (p.Asp1063Glu)
n.3258T>G
n.3346T>G
n.3218T>G
n.3094T>G
n.3354T>G
 dbSNP
3g.47121471A>GCA433601453SETD2c.3033T>C (p.Asp1011=)
c.3066T>C (p.Asp1022=)
c.1045T>C
c.1106T>C
c.181T>C
c.1329T>C (p.Asp443=)
c.72-23390T>C (n.72-23390T>C)
c.3165T>C (p.Asp1055=)
c.2780T>C
c.2317T>C
c.2065T>C
c.3243T>C (p.Asp1081=)
c.3189T>C (p.Asp1063=)
n.3258T>C
n.3346T>C
n.3218T>C
n.3094T>C
n.3354T>C
 dbSNP
3g.47121471A>TCA352523490SETD2c.3033T>A (p.Asp1011Glu)
c.3066T>A (p.Asp1022Glu)
c.1045T>A
c.1106T>A
c.181T>A
c.1329T>A (p.Asp443Glu)
c.72-23390T>A (n.72-23390T>A)
c.3165T>A (p.Asp1055Glu)
c.2780T>A
c.2317T>A
c.2065T>A
c.3243T>A (p.Asp1081Glu)
c.3189T>A (p.Asp1063Glu)
n.3258T>A
n.3346T>A
n.3218T>A
n.3094T>A
n.3354T>A
 dbSNP
3g.47121472T>ACA352523491SETD2c.3032A>T (p.Asp1011Val)
c.3065A>T (p.Asp1022Val)
c.1044A>T
c.1105A>T
c.180A>T
c.1328A>T (p.Asp443Val)
c.72-23391A>T (n.72-23391A>T)
c.3164A>T (p.Asp1055Val)
c.2779A>T
c.2316A>T
c.2064A>T
c.3242A>T (p.Asp1081Val)
c.3188A>T (p.Asp1063Val)
n.3257A>T
n.3345A>T
n.3217A>T
n.3093A>T
n.3353A>T
 dbSNP
3g.47121472T>CCA2363431SETD2c.3032A>G (p.Asp1011Gly)
c.3065A>G (p.Asp1022Gly)
c.1044A>G
c.1105A>G
c.180A>G
c.1328A>G (p.Asp443Gly)
c.72-23391A>G (n.72-23391A>G)
c.3164A>G (p.Asp1055Gly)
c.2779A>G
c.2316A>G
c.2064A>G
c.3242A>G (p.Asp1081Gly)
c.3188A>G (p.Asp1063Gly)
n.3257A>G
n.3345A>G
n.3217A>G
n.3093A>G
n.3353A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47121472T>GCA352523492SETD2c.3032A>C (p.Asp1011Ala)
c.3065A>C (p.Asp1022Ala)
c.1044A>C
c.1105A>C
c.180A>C
c.1328A>C (p.Asp443Ala)
c.72-23391A>C (n.72-23391A>C)
c.3164A>C (p.Asp1055Ala)
c.2779A>C
c.2316A>C
c.2064A>C
c.3242A>C (p.Asp1081Ala)
c.3188A>C (p.Asp1063Ala)
n.3257A>C
n.3345A>C
n.3217A>C
n.3093A>C
n.3353A>C
3g.47121472T=CA1362408462SETD2c.3032A= (p.Asp1011=)
c.3065A= (p.Asp1022=)
c.1044A=
c.1105A=
c.180A=
c.1328A= (p.Asp443=)
c.72-23391A= (n.72-23391A=)
c.3164A= (p.Asp1055=)
c.2779A=
c.2316A=
c.2064A=
c.3242A= (p.Asp1081=)
c.3188A= (p.Asp1063=)
n.3257A=
n.3345A=
n.3217A=
n.3093A=
n.3353A=
3g.47121473C>ACA352523493SETD2c.3031G>T (p.Asp1011Tyr)
c.3064G>T (p.Asp1022Tyr)
c.1043G>T
c.1104G>T
c.179G>T
c.1327G>T (p.Asp443Tyr)
c.72-23392G>T (n.72-23392G>T)
c.3163G>T (p.Asp1055Tyr)
c.2778G>T
c.2315G>T
c.2063G>T
c.3241G>T (p.Asp1081Tyr)
c.3187G>T (p.Asp1063Tyr)
n.3256G>T
n.3344G>T
n.3216G>T
n.3092G>T
n.3352G>T
 dbSNP
3g.47121473C>GCA352523494SETD2c.3031G>C (p.Asp1011His)
c.3064G>C (p.Asp1022His)
c.1043G>C
c.1104G>C
c.179G>C
c.1327G>C (p.Asp443His)
c.72-23392G>C (n.72-23392G>C)
c.3163G>C (p.Asp1055His)
c.2778G>C
c.2315G>C
c.2063G>C
c.3241G>C (p.Asp1081His)
c.3187G>C (p.Asp1063His)
n.3256G>C
n.3344G>C
n.3216G>C
n.3092G>C
n.3352G>C
 dbSNP
3g.47121473C>TCA352523495SETD2c.3031G>A (p.Asp1011Asn)
c.3064G>A (p.Asp1022Asn)
c.1043G>A
c.1104G>A
c.179G>A
c.1327G>A (p.Asp443Asn)
c.72-23392G>A (n.72-23392G>A)
c.3163G>A (p.Asp1055Asn)
c.2778G>A
c.2315G>A
c.2063G>A
c.3241G>A (p.Asp1081Asn)
c.3187G>A (p.Asp1063Asn)
n.3256G>A
n.3344G>A
n.3216G>A
n.3092G>A
n.3352G>A
 dbSNP
3g.47121474T>ACA433601454SETD2c.3030A>T (p.Thr1010=)
c.3063A>T (p.Thr1021=)
c.1042A>T
c.1103A>T
c.178A>T
c.1326A>T (p.Thr442=)
c.72-23393A>T (n.72-23393A>T)
c.3162A>T (p.Thr1054=)
c.2777A>T
c.2314A>T
c.2062A>T
c.3240A>T (p.Thr1080=)
c.3186A>T (p.Thr1062=)
n.3255A>T
n.3343A>T
n.3215A>T
n.3091A>T
n.3351A>T
 dbSNP
3g.47121474T>CCA433601455SETD2c.3030A>G (p.Thr1010=)
c.3063A>G (p.Thr1021=)
c.1042A>G
c.1103A>G
c.178A>G
c.1326A>G (p.Thr442=)
c.72-23393A>G (n.72-23393A>G)
c.3162A>G (p.Thr1054=)
c.2777A>G
c.2314A>G
c.2062A>G
c.3240A>G (p.Thr1080=)
c.3186A>G (p.Thr1062=)
n.3255A>G
n.3343A>G
n.3215A>G
n.3091A>G
n.3351A>G
 dbSNP
3g.47121474T>GCA433601456SETD2c.3030A>C (p.Thr1010=)
c.3063A>C (p.Thr1021=)
c.1042A>C
c.1103A>C
c.178A>C
c.1326A>C (p.Thr442=)
c.72-23393A>C (n.72-23393A>C)
c.3162A>C (p.Thr1054=)
c.2777A>C
c.2314A>C
c.2062A>C
c.3240A>C (p.Thr1080=)
c.3186A>C (p.Thr1062=)
n.3255A>C
n.3343A>C
n.3215A>C
n.3091A>C
n.3351A>C
3g.47121474T=CA1362408466SETD2c.3030A= (p.Thr1010=)
c.3063A= (p.Thr1021=)
c.1042A=
c.1103A=
c.178A=
c.1326A= (p.Thr442=)
c.72-23393A= (n.72-23393A=)
c.3162A= (p.Thr1054=)
c.2777A=
c.2314A=
c.2062A=
c.3240A= (p.Thr1080=)
c.3186A= (p.Thr1062=)
n.3255A=
n.3343A=
n.3215A=
n.3091A=
n.3351A=
3g.47121475G>ACA352523496SETD2c.3029C>T (p.Thr1010Ile)
c.3062C>T (p.Thr1021Ile)
c.1041C>T
c.1102C>T
c.177C>T
c.1325C>T (p.Thr442Ile)
c.72-23394C>T (n.72-23394C>T)
c.3161C>T (p.Thr1054Ile)
c.2776C>T
c.2313C>T
c.2061C>T
c.3239C>T (p.Thr1080Ile)
c.3185C>T (p.Thr1062Ile)
n.3254C>T
n.3342C>T
n.3214C>T
n.3090C>T
n.3350C>T
 dbSNP
3g.47121475G>CCA352523498SETD2c.3029C>G (p.Thr1010Arg)
c.3062C>G (p.Thr1021Arg)
c.1041C>G
c.1102C>G
c.177C>G
c.1325C>G (p.Thr442Arg)
c.72-23394C>G (n.72-23394C>G)
c.3161C>G (p.Thr1054Arg)
c.2776C>G
c.2313C>G
c.2061C>G
c.3239C>G (p.Thr1080Arg)
c.3185C>G (p.Thr1062Arg)
n.3254C>G
n.3342C>G
n.3214C>G
n.3090C>G
n.3350C>G
 dbSNP
3g.47121475G>TCA352523497SETD2c.3029C>A (p.Thr1010Lys)
c.3062C>A (p.Thr1021Lys)
c.1041C>A
c.1102C>A
c.177C>A
c.1325C>A (p.Thr442Lys)
c.72-23394C>A (n.72-23394C>A)
c.3161C>A (p.Thr1054Lys)
c.2776C>A
c.2313C>A
c.2061C>A
c.3239C>A (p.Thr1080Lys)
c.3185C>A (p.Thr1062Lys)
n.3254C>A
n.3342C>A
n.3214C>A
n.3090C>A
n.3350C>A
 gnomAD v4
3g.47121476T>ACA352523499SETD2c.3028A>T (p.Thr1010Ser)
c.3061A>T (p.Thr1021Ser)
c.1040A>T
c.1101A>T
c.176A>T
c.1324A>T (p.Thr442Ser)
c.72-23395A>T (n.72-23395A>T)
c.3160A>T (p.Thr1054Ser)
c.2775A>T
c.2312A>T
c.2060A>T
c.3238A>T (p.Thr1080Ser)
c.3184A>T (p.Thr1062Ser)
n.3253A>T
n.3341A>T
n.3213A>T
n.3089A>T
n.3349A>T
 dbSNP
3g.47121476T>CCA73809386SETD2c.3028A>G (p.Thr1010Ala)
c.3061A>G (p.Thr1021Ala)
c.1040A>G
c.1101A>G
c.176A>G
c.1324A>G (p.Thr442Ala)
c.72-23395A>G (n.72-23395A>G)
c.3160A>G (p.Thr1054Ala)
c.2775A>G
c.2312A>G
c.2060A>G
c.3238A>G (p.Thr1080Ala)
c.3184A>G (p.Thr1062Ala)
n.3253A>G
n.3341A>G
n.3213A>G
n.3089A>G
n.3349A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47121476T>GCA352523500SETD2c.3028A>C (p.Thr1010Pro)
c.3061A>C (p.Thr1021Pro)
c.1040A>C
c.1101A>C
c.176A>C
c.1324A>C (p.Thr442Pro)
c.72-23395A>C (n.72-23395A>C)
c.3160A>C (p.Thr1054Pro)
c.2775A>C
c.2312A>C
c.2060A>C
c.3238A>C (p.Thr1080Pro)
c.3184A>C (p.Thr1062Pro)
n.3253A>C
n.3341A>C
n.3213A>C
n.3089A>C
n.3349A>C
 dbSNP
3g.47121476T=CA1362408468SETD2c.3028A= (p.Thr1010=)
c.3061A= (p.Thr1021=)
c.1040A=
c.1101A=
c.176A=
c.1324A= (p.Thr442=)
c.72-23395A= (n.72-23395A=)
c.3160A= (p.Thr1054=)
c.2775A=
c.2312A=
c.2060A=
c.3238A= (p.Thr1080=)
c.3184A= (p.Thr1062=)
n.3253A=
n.3341A=
n.3213A=
n.3089A=
n.3349A=
3g.47121477A=CA1362408471SETD2c.3027T= (p.Asp1009=)
c.3060T= (p.Asp1020=)
c.1039T=
c.1100T=
c.175T=
c.1323T= (p.Asp441=)
c.72-23396T= (n.72-23396T=)
c.3159T= (p.Asp1053=)
c.2774T=
c.2311T=
c.2059T=
c.3237T= (p.Asp1079=)
c.3183T= (p.Asp1061=)
n.3252T=
n.3340T=
n.3212T=
n.3088T=
n.3348T=
3g.47121477A>CCA352523501SETD2c.3027T>G (p.Asp1009Glu)
c.3060T>G (p.Asp1020Glu)
c.1039T>G
c.1100T>G
c.175T>G
c.1323T>G (p.Asp441Glu)
c.72-23396T>G (n.72-23396T>G)
c.3159T>G (p.Asp1053Glu)
c.2774T>G
c.2311T>G
c.2059T>G
c.3237T>G (p.Asp1079Glu)
c.3183T>G (p.Asp1061Glu)
n.3252T>G
n.3340T>G
n.3212T>G
n.3088T>G
n.3348T>G
 dbSNP
3g.47121477A>GCA433601457SETD2c.3027T>C (p.Asp1009=)
c.3060T>C (p.Asp1020=)
c.1039T>C
c.1100T>C
c.175T>C
c.1323T>C (p.Asp441=)
c.72-23396T>C (n.72-23396T>C)
c.3159T>C (p.Asp1053=)
c.2774T>C
c.2311T>C
c.2059T>C
c.3237T>C (p.Asp1079=)
c.3183T>C (p.Asp1061=)
n.3252T>C
n.3340T>C
n.3212T>C
n.3088T>C
n.3348T>C
 dbSNP gnomAD v2 gnomAD v4
3g.47121477A>TCA352523502SETD2c.3027T>A (p.Asp1009Glu)
c.3060T>A (p.Asp1020Glu)
c.1039T>A
c.1100T>A
c.175T>A
c.1323T>A (p.Asp441Glu)
c.72-23396T>A (n.72-23396T>A)
c.3159T>A (p.Asp1053Glu)
c.2774T>A
c.2311T>A
c.2059T>A
c.3237T>A (p.Asp1079Glu)
c.3183T>A (p.Asp1061Glu)
n.3252T>A
n.3340T>A
n.3212T>A
n.3088T>A
n.3348T>A
 dbSNP
3g.47121478T>ACA352523503SETD2c.3026A>T (p.Asp1009Val)
c.3059A>T (p.Asp1020Val)
c.1038A>T
c.1099A>T
c.174A>T
c.1322A>T (p.Asp441Val)
c.72-23397A>T (n.72-23397A>T)
c.3158A>T (p.Asp1053Val)
c.2773A>T
c.2310A>T
c.2058A>T
c.3236A>T (p.Asp1079Val)
c.3182A>T (p.Asp1061Val)
n.3251A>T
n.3339A>T
n.3211A>T
n.3087A>T
n.3347A>T
 dbSNP
3g.47121478T>CCA352523504SETD2c.3026A>G (p.Asp1009Gly)
c.3059A>G (p.Asp1020Gly)
c.1038A>G
c.1099A>G
c.174A>G
c.1322A>G (p.Asp441Gly)
c.72-23397A>G (n.72-23397A>G)
c.3158A>G (p.Asp1053Gly)
c.2773A>G
c.2310A>G
c.2058A>G
c.3236A>G (p.Asp1079Gly)
c.3182A>G (p.Asp1061Gly)
n.3251A>G
n.3339A>G
n.3211A>G
n.3087A>G
n.3347A>G
 dbSNP
3g.47121478T>GCA352523505SETD2c.3026A>C (p.Asp1009Ala)
c.3059A>C (p.Asp1020Ala)
c.1038A>C
c.1099A>C
c.174A>C
c.1322A>C (p.Asp441Ala)
c.72-23397A>C (n.72-23397A>C)
c.3158A>C (p.Asp1053Ala)
c.2773A>C
c.2310A>C
c.2058A>C
c.3236A>C (p.Asp1079Ala)
c.3182A>C (p.Asp1061Ala)
n.3251A>C
n.3339A>C
n.3211A>C
n.3087A>C
n.3347A>C
3g.47121479C>ACA352523506SETD2c.3025G>T (p.Asp1009Tyr)
c.3058G>T (p.Asp1020Tyr)
c.1037G>T
c.1098G>T
c.173G>T
c.1321G>T (p.Asp441Tyr)
c.72-23398G>T (n.72-23398G>T)
c.3157G>T (p.Asp1053Tyr)
c.2772G>T
c.2309G>T
c.2057G>T
c.3235G>T (p.Asp1079Tyr)
c.3181G>T (p.Asp1061Tyr)
n.3250G>T
n.3338G>T
n.3210G>T
n.3086G>T
n.3346G>T
 dbSNP gnomAD v4
3g.47121479C>GCA352523507SETD2c.3025G>C (p.Asp1009His)
c.3058G>C (p.Asp1020His)
c.1037G>C
c.1098G>C
c.173G>C
c.1321G>C (p.Asp441His)
c.72-23398G>C (n.72-23398G>C)
c.3157G>C (p.Asp1053His)
c.2772G>C
c.2309G>C
c.2057G>C
c.3235G>C (p.Asp1079His)
c.3181G>C (p.Asp1061His)
n.3250G>C
n.3338G>C
n.3210G>C
n.3086G>C
n.3346G>C
 dbSNP
3g.47121479C>TCA352523508SETD2c.3025G>A (p.Asp1009Asn)
c.3058G>A (p.Asp1020Asn)
c.1037G>A
c.1098G>A
c.173G>A
c.1321G>A (p.Asp441Asn)
c.72-23398G>A (n.72-23398G>A)
c.3157G>A (p.Asp1053Asn)
c.2772G>A
c.2309G>A
c.2057G>A
c.3235G>A (p.Asp1079Asn)
c.3181G>A (p.Asp1061Asn)
n.3250G>A
n.3338G>A
n.3210G>A
n.3086G>A
n.3346G>A
 dbSNP
3g.47121480T>ACA352523509SETD2c.3024A>T (p.Glu1008Asp)
c.3057A>T (p.Glu1019Asp)
c.1036A>T
c.1097A>T
c.172A>T
c.1320A>T (p.Glu440Asp)
c.72-23399A>T (n.72-23399A>T)
c.3156A>T (p.Glu1052Asp)
c.2771A>T
c.2308A>T
c.2056A>T
c.3234A>T (p.Glu1078Asp)
c.3180A>T (p.Glu1060Asp)
n.3249A>T
n.3337A>T
n.3209A>T
n.3085A>T
n.3345A>T
 dbSNP
3g.47121480T>CCA433601458SETD2c.3024A>G (p.Glu1008=)
c.3057A>G (p.Glu1019=)
c.1036A>G
c.1097A>G
c.172A>G
c.1320A>G (p.Glu440=)
c.72-23399A>G (n.72-23399A>G)
c.3156A>G (p.Glu1052=)
c.2771A>G
c.2308A>G
c.2056A>G
c.3234A>G (p.Glu1078=)
c.3180A>G (p.Glu1060=)
n.3249A>G
n.3337A>G
n.3209A>G
n.3085A>G
n.3345A>G
 dbSNP
3g.47121480T>GCA352523510SETD2c.3024A>C (p.Glu1008Asp)
c.3057A>C (p.Glu1019Asp)
c.1036A>C
c.1097A>C
c.172A>C
c.1320A>C (p.Glu440Asp)
c.72-23399A>C (n.72-23399A>C)
c.3156A>C (p.Glu1052Asp)
c.2771A>C
c.2308A>C
c.2056A>C
c.3234A>C (p.Glu1078Asp)
c.3180A>C (p.Glu1060Asp)
n.3249A>C
n.3337A>C
n.3209A>C
n.3085A>C
n.3345A>C
3g.47121481T>ACA352523513SETD2c.3023A>T (p.Glu1008Val)
c.3056A>T (p.Glu1019Val)
c.1035A>T
c.1096A>T
c.171A>T
c.1319A>T (p.Glu440Val)
c.72-23400A>T (n.72-23400A>T)
c.3155A>T (p.Glu1052Val)
c.2770A>T
c.2307A>T
c.2055A>T
c.3233A>T (p.Glu1078Val)
c.3179A>T (p.Glu1060Val)
n.3248A>T
n.3336A>T
n.3208A>T
n.3084A>T
n.3344A>T
 dbSNP
3g.47121481T>CCA352523512SETD2c.3023A>G (p.Glu1008Gly)
c.3056A>G (p.Glu1019Gly)
c.1035A>G
c.1096A>G
c.171A>G
c.1319A>G (p.Glu440Gly)
c.72-23400A>G (n.72-23400A>G)
c.3155A>G (p.Glu1052Gly)
c.2770A>G
c.2307A>G
c.2055A>G
c.3233A>G (p.Glu1078Gly)
c.3179A>G (p.Glu1060Gly)
n.3248A>G
n.3336A>G
n.3208A>G
n.3084A>G
n.3344A>G
 dbSNP
3g.47121481T>GCA352523511SETD2c.3023A>C (p.Glu1008Ala)
c.3056A>C (p.Glu1019Ala)
c.1035A>C
c.1096A>C
c.171A>C
c.1319A>C (p.Glu440Ala)
c.72-23400A>C (n.72-23400A>C)
c.3155A>C (p.Glu1052Ala)
c.2770A>C
c.2307A>C
c.2055A>C
c.3233A>C (p.Glu1078Ala)
c.3179A>C (p.Glu1060Ala)
n.3248A>C
n.3336A>C
n.3208A>C
n.3084A>C
n.3344A>C
3g.47121482C>ACA352523515SETD2c.3022G>T (p.Glu1008Ter)
c.3055G>T (p.Glu1019Ter)
c.1034G>T
c.1095G>T
c.170G>T
c.1318G>T (p.Glu440Ter)
c.72-23401G>T (n.72-23401G>T)
c.3154G>T (p.Glu1052Ter)
c.2769G>T
c.2306G>T
c.2054G>T
c.3232G>T (p.Glu1078Ter)
c.3178G>T (p.Glu1060Ter)
n.3247G>T
n.3335G>T
n.3207G>T
n.3083G>T
n.3343G>T
 dbSNP
3g.47121482C=CA1362408473SETD2c.3022G= (p.Glu1008=)
c.3055G= (p.Glu1019=)
c.1034G=
c.1095G=
c.170G=
c.1318G= (p.Glu440=)
c.72-23401G= (n.72-23401G=)
c.3154G= (p.Glu1052=)
c.2769G=
c.2306G=
c.2054G=
c.3232G= (p.Glu1078=)
c.3178G= (p.Glu1060=)
n.3247G=
n.3335G=
n.3207G=
n.3083G=
n.3343G=
3g.47121482C>GCA352523517SETD2c.3022G>C (p.Glu1008Gln)
c.3055G>C (p.Glu1019Gln)
c.1034G>C
c.1095G>C
c.170G>C
c.1318G>C (p.Glu440Gln)
c.72-23401G>C (n.72-23401G>C)
c.3154G>C (p.Glu1052Gln)
c.2769G>C
c.2306G>C
c.2054G>C
c.3232G>C (p.Glu1078Gln)
c.3178G>C (p.Glu1060Gln)
n.3247G>C
n.3335G>C
n.3207G>C
n.3083G>C
n.3343G>C
 dbSNP
3g.47121482C>TCA352523519SETD2c.3022G>A (p.Glu1008Lys)
c.3055G>A (p.Glu1019Lys)
c.1034G>A
c.1095G>A
c.170G>A
c.1318G>A (p.Glu440Lys)
c.72-23401G>A (n.72-23401G>A)
c.3154G>A (p.Glu1052Lys)
c.2769G>A
c.2306G>A
c.2054G>A
c.3232G>A (p.Glu1078Lys)
c.3178G>A (p.Glu1060Lys)
n.3247G>A
n.3335G>A
n.3207G>A
n.3083G>A
n.3343G>A
 dbSNP
3g.47121483T>ACA433601459SETD2c.3021A>T (p.Ser1007=)
c.3054A>T (p.Ser1018=)
c.1033A>T
c.1094A>T
c.169A>T
c.1317A>T (p.Ser439=)
c.72-23402A>T (n.72-23402A>T)
c.3153A>T (p.Ser1051=)
c.2768A>T
c.2305A>T
c.2053A>T
c.3231A>T (p.Ser1077=)
c.3177A>T (p.Ser1059=)
n.3246A>T
n.3334A>T
n.3206A>T
n.3082A>T
n.3342A>T
 dbSNP
3g.47121483T>CCA433601460SETD2c.3021A>G (p.Ser1007=)
c.3054A>G (p.Ser1018=)
c.1033A>G
c.1094A>G
c.169A>G
c.1317A>G (p.Ser439=)
c.72-23402A>G (n.72-23402A>G)
c.3153A>G (p.Ser1051=)
c.2768A>G
c.2305A>G
c.2053A>G
c.3231A>G (p.Ser1077=)
c.3177A>G (p.Ser1059=)
n.3246A>G
n.3334A>G
n.3206A>G
n.3082A>G
n.3342A>G
 dbSNP gnomAD v2 gnomAD v4
3g.47121483T>GCA433601461SETD2c.3021A>C (p.Ser1007=)
c.3054A>C (p.Ser1018=)
c.1033A>C
c.1094A>C
c.169A>C
c.1317A>C (p.Ser439=)
c.72-23402A>C (n.72-23402A>C)
c.3153A>C (p.Ser1051=)
c.2768A>C
c.2305A>C
c.2053A>C
c.3231A>C (p.Ser1077=)
c.3177A>C (p.Ser1059=)
n.3246A>C
n.3334A>C
n.3206A>C
n.3082A>C
n.3342A>C
3g.47121483T=CA1362408476SETD2c.3021A= (p.Ser1007=)
c.3054A= (p.Ser1018=)
c.1033A=
c.1094A=
c.169A=
c.1317A= (p.Ser439=)
c.72-23402A= (n.72-23402A=)
c.3153A= (p.Ser1051=)
c.2768A=
c.2305A=
c.2053A=
c.3231A= (p.Ser1077=)
c.3177A= (p.Ser1059=)
n.3246A=
n.3334A=
n.3206A=
n.3082A=
n.3342A=
3g.47121484G>ACA352523520SETD2c.3020C>T (p.Ser1007Leu)
c.3053C>T (p.Ser1018Leu)
c.1032C>T
c.1093C>T
c.168C>T
c.1316C>T (p.Ser439Leu)
c.72-23403C>T (n.72-23403C>T)
c.3152C>T (p.Ser1051Leu)
c.2767C>T
c.2304C>T
c.2052C>T
c.3230C>T (p.Ser1077Leu)
c.3176C>T (p.Ser1059Leu)
n.3245C>T
n.3333C>T
n.3205C>T
n.3081C>T
n.3341C>T
 ClinVar dbSNP
3g.47121484G>CCA352523522SETD2c.3020C>G (p.Ser1007Ter)
c.3053C>G (p.Ser1018Ter)
c.1032C>G
c.1093C>G
c.168C>G
c.1316C>G (p.Ser439Ter)
c.72-23403C>G (n.72-23403C>G)
c.3152C>G (p.Ser1051Ter)
c.2767C>G
c.2304C>G
c.2052C>G
c.3230C>G (p.Ser1077Ter)
c.3176C>G (p.Ser1059Ter)
n.3245C>G
n.3333C>G
n.3205C>G
n.3081C>G
n.3341C>G
 dbSNP
3g.47121484G=CA1362408477SETD2c.3020C= (p.Ser1007=)
c.3053C= (p.Ser1018=)
c.1032C=
c.1093C=
c.168C=
c.1316C= (p.Ser439=)
c.72-23403C= (n.72-23403C=)
c.3152C= (p.Ser1051=)
c.2767C=
c.2304C=
c.2052C=
c.3230C= (p.Ser1077=)
c.3176C= (p.Ser1059=)
n.3245C=
n.3333C=
n.3205C=
n.3081C=
n.3341C=
3g.47121484G>TCA352523524SETD2c.3020C>A (p.Ser1007Ter)
c.3053C>A (p.Ser1018Ter)
c.1032C>A
c.1093C>A
c.168C>A
c.1316C>A (p.Ser439Ter)
c.72-23403C>A (n.72-23403C>A)
c.3152C>A (p.Ser1051Ter)
c.2767C>A
c.2304C>A
c.2052C>A
c.3230C>A (p.Ser1077Ter)
c.3176C>A (p.Ser1059Ter)
n.3245C>A
n.3333C>A
n.3205C>A
n.3081C>A
n.3341C>A
 dbSNP COSMIC COSMIC
3g.47121485A>CCA352523526SETD2c.3019T>G (p.Ser1007Ala)
c.3052T>G (p.Ser1018Ala)
c.1031T>G
c.1092T>G
c.167T>G
c.1315T>G (p.Ser439Ala)
c.72-23404T>G (n.72-23404T>G)
c.3151T>G (p.Ser1051Ala)
c.2766T>G
c.2303T>G
c.2051T>G
c.3229T>G (p.Ser1077Ala)
c.3175T>G (p.Ser1059Ala)
n.3244T>G
n.3332T>G
n.3204T>G
n.3080T>G
n.3340T>G
3g.47121485A>GCA352523527SETD2c.3019T>C (p.Ser1007Pro)
c.3052T>C (p.Ser1018Pro)
c.1031T>C
c.1092T>C
c.167T>C
c.1315T>C (p.Ser439Pro)
c.72-23404T>C (n.72-23404T>C)
c.3151T>C (p.Ser1051Pro)
c.2766T>C
c.2303T>C
c.2051T>C
c.3229T>C (p.Ser1077Pro)
c.3175T>C (p.Ser1059Pro)
n.3244T>C
n.3332T>C
n.3204T>C
n.3080T>C
n.3340T>C
3g.47121485A>TCA352523528SETD2c.3019T>A (p.Ser1007Thr)
c.3052T>A (p.Ser1018Thr)
c.1031T>A
c.1092T>A
c.167T>A
c.1315T>A (p.Ser439Thr)
c.72-23404T>A (n.72-23404T>A)
c.3151T>A (p.Ser1051Thr)
c.2766T>A
c.2303T>A
c.2051T>A
c.3229T>A (p.Ser1077Thr)
c.3175T>A (p.Ser1059Thr)
n.3244T>A
n.3332T>A
n.3204T>A
n.3080T>A
n.3340T>A
 dbSNP
3g.47121486A>CCA352523531SETD2c.3018T>G (p.Asp1006Glu)
c.3051T>G (p.Asp1017Glu)
c.1030T>G
c.1091T>G
c.166T>G
c.1314T>G (p.Asp438Glu)
c.72-23405T>G (n.72-23405T>G)
c.3150T>G (p.Asp1050Glu)
c.2765T>G
c.2302T>G
c.2050T>G
c.3228T>G (p.Asp1076Glu)
c.3174T>G (p.Asp1058Glu)
n.3243T>G
n.3331T>G
n.3203T>G
n.3079T>G
n.3339T>G
 dbSNP
3g.47121486A>GCA433601462SETD2c.3018T>C (p.Asp1006=)
c.3051T>C (p.Asp1017=)
c.1030T>C
c.1091T>C
c.166T>C
c.1314T>C (p.Asp438=)
c.72-23405T>C (n.72-23405T>C)
c.3150T>C (p.Asp1050=)
c.2765T>C
c.2302T>C
c.2050T>C
c.3228T>C (p.Asp1076=)
c.3174T>C (p.Asp1058=)
n.3243T>C
n.3331T>C
n.3203T>C
n.3079T>C
n.3339T>C
 dbSNP
3g.47121486A>TCA352523532SETD2c.3018T>A (p.Asp1006Glu)
c.3051T>A (p.Asp1017Glu)
c.1030T>A
c.1091T>A
c.166T>A
c.1314T>A (p.Asp438Glu)
c.72-23405T>A (n.72-23405T>A)
c.3150T>A (p.Asp1050Glu)
c.2765T>A
c.2302T>A
c.2050T>A
c.3228T>A (p.Asp1076Glu)
c.3174T>A (p.Asp1058Glu)
n.3243T>A
n.3331T>A
n.3203T>A
n.3079T>A
n.3339T>A
 dbSNP
3g.47121487T>ACA352523535SETD2c.3017A>T (p.Asp1006Val)
c.3050A>T (p.Asp1017Val)
c.1029A>T
c.1090A>T
c.165A>T
c.1313A>T (p.Asp438Val)
c.72-23406A>T (n.72-23406A>T)
c.3149A>T (p.Asp1050Val)
c.2764A>T
c.2301A>T
c.2049A>T
c.3227A>T (p.Asp1076Val)
c.3173A>T (p.Asp1058Val)
n.3242A>T
n.3330A>T
n.3202A>T
n.3078A>T
n.3338A>T
 dbSNP
3g.47121487T>CCA352523537SETD2c.3017A>G (p.Asp1006Gly)
c.3050A>G (p.Asp1017Gly)
c.1029A>G
c.1090A>G
c.165A>G
c.1313A>G (p.Asp438Gly)
c.72-23406A>G (n.72-23406A>G)
c.3149A>G (p.Asp1050Gly)
c.2764A>G
c.2301A>G
c.2049A>G
c.3227A>G (p.Asp1076Gly)
c.3173A>G (p.Asp1058Gly)
n.3242A>G
n.3330A>G
n.3202A>G
n.3078A>G
n.3338A>G
 dbSNP
3g.47121487T>GCA352523534SETD2c.3017A>C (p.Asp1006Ala)
c.3050A>C (p.Asp1017Ala)
c.1029A>C
c.1090A>C
c.165A>C
c.1313A>C (p.Asp438Ala)
c.72-23406A>C (n.72-23406A>C)
c.3149A>C (p.Asp1050Ala)
c.2764A>C
c.2301A>C
c.2049A>C
c.3227A>C (p.Asp1076Ala)
c.3173A>C (p.Asp1058Ala)
n.3242A>C
n.3330A>C
n.3202A>C
n.3078A>C
n.3338A>C
 dbSNP
3g.47121488C>ACA352523539SETD2c.3016G>T (p.Asp1006Tyr)
c.3049G>T (p.Asp1017Tyr)
c.1028G>T
c.1089G>T
c.164G>T
c.1312G>T (p.Asp438Tyr)
c.72-23407G>T (n.72-23407G>T)
c.3148G>T (p.Asp1050Tyr)
c.2763G>T
c.2300G>T
c.2048G>T
c.3226G>T (p.Asp1076Tyr)
c.3172G>T (p.Asp1058Tyr)
n.3241G>T
n.3329G>T
n.3201G>T
n.3077G>T
n.3337G>T
 dbSNP
3g.47121488C>GCA352523541SETD2c.3016G>C (p.Asp1006His)
c.3049G>C (p.Asp1017His)
c.1028G>C
c.1089G>C
c.164G>C
c.1312G>C (p.Asp438His)
c.72-23407G>C (n.72-23407G>C)
c.3148G>C (p.Asp1050His)
c.2763G>C
c.2300G>C
c.2048G>C
c.3226G>C (p.Asp1076His)
c.3172G>C (p.Asp1058His)
n.3241G>C
n.3329G>C
n.3201G>C
n.3077G>C
n.3337G>C
 dbSNP
3g.47121488C>TCA352523542SETD2c.3016G>A (p.Asp1006Asn)
c.3049G>A (p.Asp1017Asn)
c.1028G>A
c.1089G>A
c.164G>A
c.1312G>A (p.Asp438Asn)
c.72-23407G>A (n.72-23407G>A)
c.3148G>A (p.Asp1050Asn)
c.2763G>A
c.2300G>A
c.2048G>A
c.3226G>A (p.Asp1076Asn)
c.3172G>A (p.Asp1058Asn)
n.3241G>A
n.3329G>A
n.3201G>A
n.3077G>A
n.3337G>A
 dbSNP
3g.47121489A>CCA352523543SETD2c.3015T>G (p.Ser1005Arg)
c.3048T>G (p.Ser1016Arg)
c.1027T>G
c.1088T>G
c.163T>G
c.1311T>G (p.Ser437Arg)
c.72-23408T>G (n.72-23408T>G)
c.3147T>G (p.Ser1049Arg)
c.2762T>G
c.2299T>G
c.2047T>G
c.3225T>G (p.Ser1075Arg)
c.3171T>G (p.Ser1057Arg)
n.3240T>G
n.3328T>G
n.3200T>G
n.3076T>G
n.3336T>G
 dbSNP
3g.47121489A>GCA433601463SETD2c.3015T>C (p.Ser1005=)
c.3048T>C (p.Ser1016=)
c.1027T>C
c.1088T>C
c.163T>C
c.1311T>C (p.Ser437=)
c.72-23408T>C (n.72-23408T>C)
c.3147T>C (p.Ser1049=)
c.2762T>C
c.2299T>C
c.2047T>C
c.3225T>C (p.Ser1075=)
c.3171T>C (p.Ser1057=)
n.3240T>C
n.3328T>C
n.3200T>C
n.3076T>C
n.3336T>C
 dbSNP
3g.47121489A>TCA352523544SETD2c.3015T>A (p.Ser1005Arg)
c.3048T>A (p.Ser1016Arg)
c.1027T>A
c.1088T>A
c.163T>A
c.1311T>A (p.Ser437Arg)
c.72-23408T>A (n.72-23408T>A)
c.3147T>A (p.Ser1049Arg)
c.2762T>A
c.2299T>A
c.2047T>A
c.3225T>A (p.Ser1075Arg)
c.3171T>A (p.Ser1057Arg)
n.3240T>A
n.3328T>A
n.3200T>A
n.3076T>A
n.3336T>A
 dbSNP
3g.47121490C>ACA352523546SETD2c.3014G>T (p.Ser1005Ile)
c.3047G>T (p.Ser1016Ile)
c.1026G>T
c.1087G>T
c.162G>T
c.1310G>T (p.Ser437Ile)
c.72-23409G>T (n.72-23409G>T)
c.3146G>T (p.Ser1049Ile)
c.2761G>T
c.2298G>T
c.2046G>T
c.3224G>T (p.Ser1075Ile)
c.3170G>T (p.Ser1057Ile)
n.3239G>T
n.3327G>T
n.3199G>T
n.3075G>T
n.3335G>T
 dbSNP
3g.47121490C=CA1362408482SETD2c.3014G= (p.Ser1005=)
c.3047G= (p.Ser1016=)
c.1026G=
c.1087G=
c.162G=
c.1310G= (p.Ser437=)
c.72-23409G= (n.72-23409G=)
c.3146G= (p.Ser1049=)
c.2761G=
c.2298G=
c.2046G=
c.3224G= (p.Ser1075=)
c.3170G= (p.Ser1057=)
n.3239G=
n.3327G=
n.3199G=
n.3075G=
n.3335G=
3g.47121490C>GCA352523548SETD2c.3014G>C (p.Ser1005Thr)
c.3047G>C (p.Ser1016Thr)
c.1026G>C
c.1087G>C
c.162G>C
c.1310G>C (p.Ser437Thr)
c.72-23409G>C (n.72-23409G>C)
c.3146G>C (p.Ser1049Thr)
c.2761G>C
c.2298G>C
c.2046G>C
c.3224G>C (p.Ser1075Thr)
c.3170G>C (p.Ser1057Thr)
n.3239G>C
n.3327G>C
n.3199G>C
n.3075G>C
n.3335G>C
3g.47121490C>TCA73809394SETD2c.3014G>A (p.Ser1005Asn)
c.3047G>A (p.Ser1016Asn)
c.1026G>A
c.1087G>A
c.162G>A
c.1310G>A (p.Ser437Asn)
c.72-23409G>A (n.72-23409G>A)
c.3146G>A (p.Ser1049Asn)
c.2761G>A
c.2298G>A
c.2046G>A
c.3224G>A (p.Ser1075Asn)
c.3170G>A (p.Ser1057Asn)
n.3239G>A
n.3327G>A
n.3199G>A
n.3075G>A
n.3335G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47121491T>ACA352523549SETD2c.3013A>T (p.Ser1005Cys)
c.3046A>T (p.Ser1016Cys)
c.1025A>T
c.1086A>T
c.161A>T
c.1309A>T (p.Ser437Cys)
c.72-23410A>T (n.72-23410A>T)
c.3145A>T (p.Ser1049Cys)
c.2760A>T
c.2297A>T
c.2045A>T
c.3223A>T (p.Ser1075Cys)
c.3169A>T (p.Ser1057Cys)
n.3238A>T
n.3326A>T
n.3198A>T
n.3074A>T
n.3334A>T
 dbSNP
3g.47121491T>CCA2363433SETD2c.3013A>G (p.Ser1005Gly)
c.3046A>G (p.Ser1016Gly)
c.1025A>G
c.1086A>G
c.161A>G
c.1309A>G (p.Ser437Gly)
c.72-23410A>G (n.72-23410A>G)
c.3145A>G (p.Ser1049Gly)
c.2760A>G
c.2297A>G
c.2045A>G
c.3223A>G (p.Ser1075Gly)
c.3169A>G (p.Ser1057Gly)
n.3238A>G
n.3326A>G
n.3198A>G
n.3074A>G
n.3334A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47121491T>GCA2363432SETD2c.3013A>C (p.Ser1005Arg)
c.3046A>C (p.Ser1016Arg)
c.1025A>C
c.1086A>C
c.161A>C
c.1309A>C (p.Ser437Arg)
c.72-23410A>C (n.72-23410A>C)
c.3145A>C (p.Ser1049Arg)
c.2760A>C
c.2297A>C
c.2045A>C
c.3223A>C (p.Ser1075Arg)
c.3169A>C (p.Ser1057Arg)
n.3238A>C
n.3326A>C
n.3198A>C
n.3074A>C
n.3334A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47121491T=CA1362408485SETD2c.3013A= (p.Ser1005=)
c.3046A= (p.Ser1016=)
c.1025A=
c.1086A=
c.161A=
c.1309A= (p.Ser437=)
c.72-23410A= (n.72-23410A=)
c.3145A= (p.Ser1049=)
c.2760A=
c.2297A=
c.2045A=
c.3223A= (p.Ser1075=)
c.3169A= (p.Ser1057=)
n.3238A=
n.3326A=
n.3198A=
n.3074A=
n.3334A=
3g.47121492T>ACA352523552SETD2c.3012A>T (p.Glu1004Asp)
c.3045A>T (p.Glu1015Asp)
c.1024A>T
c.1085A>T
c.160A>T
c.1308A>T (p.Glu436Asp)
c.72-23411A>T (n.72-23411A>T)
c.3144A>T (p.Glu1048Asp)
c.2759A>T
c.2296A>T
c.2044A>T
c.3222A>T (p.Glu1074Asp)
c.3168A>T (p.Glu1056Asp)
n.3237A>T
n.3325A>T
n.3197A>T
n.3073A>T
n.3333A>T
 dbSNP
3g.47121492T>CCA433601464SETD2c.3012A>G (p.Glu1004=)
c.3045A>G (p.Glu1015=)
c.1024A>G
c.1085A>G
c.160A>G
c.1308A>G (p.Glu436=)
c.72-23411A>G (n.72-23411A>G)
c.3144A>G (p.Glu1048=)
c.2759A>G
c.2296A>G
c.2044A>G
c.3222A>G (p.Glu1074=)
c.3168A>G (p.Glu1056=)
n.3237A>G
n.3325A>G
n.3197A>G
n.3073A>G
n.3333A>G
 dbSNP
3g.47121492T>GCA352523554SETD2c.3012A>C (p.Glu1004Asp)
c.3045A>C (p.Glu1015Asp)
c.1024A>C
c.1085A>C
c.160A>C
c.1308A>C (p.Glu436Asp)
c.72-23411A>C (n.72-23411A>C)
c.3144A>C (p.Glu1048Asp)
c.2759A>C
c.2296A>C
c.2044A>C
c.3222A>C (p.Glu1074Asp)
c.3168A>C (p.Glu1056Asp)
n.3237A>C
n.3325A>C
n.3197A>C
n.3073A>C
n.3333A>C
3g.47121493T>ACA352523559SETD2c.3011A>T (p.Glu1004Val)
c.3044A>T (p.Glu1015Val)
c.1023A>T
c.1084A>T
c.159A>T
c.1307A>T (p.Glu436Val)
c.72-23412A>T (n.72-23412A>T)
c.3143A>T (p.Glu1048Val)
c.2758A>T
c.2295A>T
c.2043A>T
c.3221A>T (p.Glu1074Val)
c.3167A>T (p.Glu1056Val)
n.3236A>T
n.3324A>T
n.3196A>T
n.3072A>T
n.3332A>T
 dbSNP
3g.47121493T>CCA352523558SETD2c.3011A>G (p.Glu1004Gly)
c.3044A>G (p.Glu1015Gly)
c.1023A>G
c.1084A>G
c.159A>G
c.1307A>G (p.Glu436Gly)
c.72-23412A>G (n.72-23412A>G)
c.3143A>G (p.Glu1048Gly)
c.2758A>G
c.2295A>G
c.2043A>G
c.3221A>G (p.Glu1074Gly)
c.3167A>G (p.Glu1056Gly)
n.3236A>G
n.3324A>G
n.3196A>G
n.3072A>G
n.3332A>G
3g.47121493T>GCA352523556SETD2c.3011A>C (p.Glu1004Ala)
c.3044A>C (p.Glu1015Ala)
c.1023A>C
c.1084A>C
c.159A>C
c.1307A>C (p.Glu436Ala)
c.72-23412A>C (n.72-23412A>C)
c.3143A>C (p.Glu1048Ala)
c.2758A>C
c.2295A>C
c.2043A>C
c.3221A>C (p.Glu1074Ala)
c.3167A>C (p.Glu1056Ala)
n.3236A>C
n.3324A>C
n.3196A>C
n.3072A>C
n.3332A>C
 ClinVar gnomAD v4
3g.47121494C>ACA352523561SETD2c.3010G>T (p.Glu1004Ter)
c.3043G>T (p.Glu1015Ter)
c.1022G>T
c.1083G>T
c.158G>T
c.1306G>T (p.Glu436Ter)
c.72-23413G>T (n.72-23413G>T)
c.3142G>T (p.Glu1048Ter)
c.2757G>T
c.2294G>T
c.2042G>T
c.3220G>T (p.Glu1074Ter)
c.3166G>T (p.Glu1056Ter)
n.3235G>T
n.3323G>T
n.3195G>T
n.3071G>T
n.3331G>T
 dbSNP
3g.47121494C=CA1362408489SETD2c.3010G= (p.Glu1004=)
c.3043G= (p.Glu1015=)
c.1022G=
c.1083G=
c.158G=
c.1306G= (p.Glu436=)
c.72-23413G= (n.72-23413G=)
c.3142G= (p.Glu1048=)
c.2757G=
c.2294G=
c.2042G=
c.3220G= (p.Glu1074=)
c.3166G= (p.Glu1056=)
n.3235G=
n.3323G=
n.3195G=
n.3071G=
n.3331G=
3g.47121494C>GCA352523563SETD2c.3010G>C (p.Glu1004Gln)
c.3043G>C (p.Glu1015Gln)
c.1022G>C
c.1083G>C
c.158G>C
c.1306G>C (p.Glu436Gln)
c.72-23413G>C (n.72-23413G>C)
c.3142G>C (p.Glu1048Gln)
c.2757G>C
c.2294G>C
c.2042G>C
c.3220G>C (p.Glu1074Gln)
c.3166G>C (p.Glu1056Gln)
n.3235G>C
n.3323G>C
n.3195G>C
n.3071G>C
n.3331G>C
 dbSNP COSMIC COSMIC
3g.47121494C>TCA162095SETD2c.3010G>A (p.Glu1004Lys)
c.3043G>A (p.Glu1015Lys)
c.1022G>A
c.1083G>A
c.158G>A
c.1306G>A (p.Glu436Lys)
c.72-23413G>A (n.72-23413G>A)
c.3142G>A (p.Glu1048Lys)
c.2757G>A
c.2294G>A
c.2042G>A
c.3220G>A (p.Glu1074Lys)
c.3166G>A (p.Glu1056Lys)
n.3235G>A
n.3323G>A
n.3195G>A
n.3071G>A
n.3331G>A
 ClinVar dbSNP
3g.47121495A>CCA352523565SETD2c.3009T>G (p.Asp1003Glu)
c.3042T>G (p.Asp1014Glu)
c.1021T>G
c.1082T>G
c.157T>G
c.1305T>G (p.Asp435Glu)
c.72-23414T>G (n.72-23414T>G)
c.3141T>G (p.Asp1047Glu)
c.2756T>G
c.2293T>G
c.2041T>G
c.3219T>G (p.Asp1073Glu)
c.3165T>G (p.Asp1055Glu)
n.3234T>G
n.3322T>G
n.3194T>G
n.3070T>G
n.3330T>G
 dbSNP
3g.47121495A>GCA433601465SETD2c.3009T>C (p.Asp1003=)
c.3042T>C (p.Asp1014=)
c.1021T>C
c.1082T>C
c.157T>C
c.1305T>C (p.Asp435=)
c.72-23414T>C (n.72-23414T>C)
c.3141T>C (p.Asp1047=)
c.2756T>C
c.2293T>C
c.2041T>C
c.3219T>C (p.Asp1073=)
c.3165T>C (p.Asp1055=)
n.3234T>C
n.3322T>C
n.3194T>C
n.3070T>C
n.3330T>C
 dbSNP
3g.47121495A>TCA352523566SETD2c.3009T>A (p.Asp1003Glu)
c.3042T>A (p.Asp1014Glu)
c.1021T>A
c.1082T>A
c.157T>A
c.1305T>A (p.Asp435Glu)
c.72-23414T>A (n.72-23414T>A)
c.3141T>A (p.Asp1047Glu)
c.2756T>A
c.2293T>A
c.2041T>A
c.3219T>A (p.Asp1073Glu)
c.3165T>A (p.Asp1055Glu)
n.3234T>A
n.3322T>A
n.3194T>A
n.3070T>A
n.3330T>A
 dbSNP
3g.47121496T>ACA352523568SETD2c.3008A>T (p.Asp1003Val)
c.3041A>T (p.Asp1014Val)
c.1020A>T
c.1081A>T
c.156A>T
c.1304A>T (p.Asp435Val)
c.72-23415A>T (n.72-23415A>T)
c.3140A>T (p.Asp1047Val)
c.2755A>T
c.2292A>T
c.2040A>T
c.3218A>T (p.Asp1073Val)
c.3164A>T (p.Asp1055Val)
n.3233A>T
n.3321A>T
n.3193A>T
n.3069A>T
n.3329A>T
 dbSNP gnomAD v4
3g.47121496T>CCA2363434SETD2c.3008A>G (p.Asp1003Gly)
c.3041A>G (p.Asp1014Gly)
c.1020A>G
c.1081A>G
c.156A>G
c.1304A>G (p.Asp435Gly)
c.72-23415A>G (n.72-23415A>G)
c.3140A>G (p.Asp1047Gly)
c.2755A>G
c.2292A>G
c.2040A>G
c.3218A>G (p.Asp1073Gly)
c.3164A>G (p.Asp1055Gly)
n.3233A>G
n.3321A>G
n.3193A>G
n.3069A>G
n.3329A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47121496T>GCA352523571SETD2c.3008A>C (p.Asp1003Ala)
c.3041A>C (p.Asp1014Ala)
c.1020A>C
c.1081A>C
c.156A>C
c.1304A>C (p.Asp435Ala)
c.72-23415A>C (n.72-23415A>C)
c.3140A>C (p.Asp1047Ala)
c.2755A>C
c.2292A>C
c.2040A>C
c.3218A>C (p.Asp1073Ala)
c.3164A>C (p.Asp1055Ala)
n.3233A>C
n.3321A>C
n.3193A>C
n.3069A>C
n.3329A>C
3g.47121496T=CA1362408493SETD2c.3008A= (p.Asp1003=)
c.3041A= (p.Asp1014=)
c.1020A=
c.1081A=
c.156A=
c.1304A= (p.Asp435=)
c.72-23415A= (n.72-23415A=)
c.3140A= (p.Asp1047=)
c.2755A=
c.2292A=
c.2040A=
c.3218A= (p.Asp1073=)
c.3164A= (p.Asp1055=)
n.3233A=
n.3321A=
n.3193A=
n.3069A=
n.3329A=

Number of alleles fetched