Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.44953073G>A | CA402325066 | SETBP1 | c.3733G>A (p.Ala1245Thr) c.3811G>A (p.Ala1271Thr) c.3256G>A (p.Ala1086Thr) | dbSNP gnomAD v4 |
18 | g.44953073G>C | CA402325067 | SETBP1 | c.3733G>C (p.Ala1245Pro) c.3811G>C (p.Ala1271Pro) c.3256G>C (p.Ala1086Pro) | |
18 | g.44953073G= | CA2300141245 | SETBP1 | c.3733G= (p.Ala1245=) c.3811G= (p.Ala1271=) c.3256G= (p.Ala1086=) | |
18 | g.44953073G>T | CA402325068 | SETBP1 | c.3733G>T (p.Ala1245Ser) c.3811G>T (p.Ala1271Ser) c.3256G>T (p.Ala1086Ser) | |
18 | g.44953074C>A | CA402325069 | SETBP1 | c.3734C>A (p.Ala1245Asp) c.3812C>A (p.Ala1271Asp) c.3257C>A (p.Ala1086Asp) | |
18 | g.44953074C= | CA2300141246 | SETBP1 | c.3734C= (p.Ala1245=) c.3812C= (p.Ala1271=) c.3257C= (p.Ala1086=) | |
18 | g.44953074C>G | CA402325070 | SETBP1 | c.3734C>G (p.Ala1245Gly) c.3812C>G (p.Ala1271Gly) c.3257C>G (p.Ala1086Gly) | |
18 | g.44953074C>T | CA402325071 | SETBP1 | c.3734C>T (p.Ala1245Val) c.3812C>T (p.Ala1271Val) c.3257C>T (p.Ala1086Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953075C>A | CA503982913 | SETBP1 | c.3735C>A (p.Ala1245=) c.3813C>A (p.Ala1271=) c.3258C>A (p.Ala1086=) | |
18 | g.44953075C>G | CA503982914 | SETBP1 | c.3735C>G (p.Ala1245=) c.3813C>G (p.Ala1271=) c.3258C>G (p.Ala1086=) | |
18 | g.44953075C>T | CA503982915 | SETBP1 | c.3735C>T (p.Ala1245=) c.3813C>T (p.Ala1271=) c.3258C>T (p.Ala1086=) | |
18 | g.44953076A= | CA2300141247 | SETBP1 | c.3736A= (p.Lys1246=) c.3814A= (p.Lys1272=) c.3259A= (p.Lys1087=) | |
18 | g.44953076A>C | CA402325073 | SETBP1 | c.3736A>C (p.Lys1246Gln) c.3814A>C (p.Lys1272Gln) c.3259A>C (p.Lys1087Gln) | |
18 | g.44953076A>G | CA8945972 | SETBP1 | c.3736A>G (p.Lys1246Glu) c.3814A>G (p.Lys1272Glu) c.3259A>G (p.Lys1087Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953076A>T | CA402325072 | SETBP1 | c.3736A>T (p.Lys1246Ter) c.3814A>T (p.Lys1272Ter) c.3259A>T (p.Lys1087Ter) | |
18 | g.44953077del | CA2812320165 | SETBP1 | c.3737del (p.Lys1246ArgfsTer6) c.3815del (p.Lys1272ArgfsTer6) c.3260del (p.Lys1087ArgfsTer6) | |
18 | g.44953077A= | CA2300141248 | SETBP1 | c.3737A= (p.Lys1246=) c.3815A= (p.Lys1272=) c.3260A= (p.Lys1087=) | |
18 | g.44953077A>C | CA402325074 | SETBP1 | c.3737A>C (p.Lys1246Thr) c.3815A>C (p.Lys1272Thr) c.3260A>C (p.Lys1087Thr) | |
18 | g.44953077A>G | CA299699730 | SETBP1 | c.3737A>G (p.Lys1246Arg) c.3815A>G (p.Lys1272Arg) c.3260A>G (p.Lys1087Arg) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.44953077A>T | CA402325075 | SETBP1 | c.3737A>T (p.Lys1246Met) c.3815A>T (p.Lys1272Met) c.3260A>T (p.Lys1087Met) | |
18 | g.44953078G>A | CA503982917 | SETBP1 | c.3738G>A (p.Lys1246=) c.3816G>A (p.Lys1272=) c.3261G>A (p.Lys1087=) | |
18 | g.44953078G>C | CA402325076 | SETBP1 | c.3738G>C (p.Lys1246Asn) c.3816G>C (p.Lys1272Asn) c.3261G>C (p.Lys1087Asn) | |
18 | g.44953078G>T | CA402325077 | SETBP1 | c.3738G>T (p.Lys1246Asn) c.3816G>T (p.Lys1272Asn) c.3261G>T (p.Lys1087Asn) | |
18 | g.44953079G>A | CA402325078 | SETBP1 | c.3739G>A (p.Glu1247Lys) c.3817G>A (p.Glu1273Lys) c.3262G>A (p.Glu1088Lys) | COSMIC |
18 | g.44953079G>C | CA402325080 | SETBP1 | c.3739G>C (p.Glu1247Gln) c.3817G>C (p.Glu1273Gln) c.3262G>C (p.Glu1088Gln) | |
18 | g.44953079G>T | CA402325079 | SETBP1 | c.3739G>T (p.Glu1247Ter) c.3817G>T (p.Glu1273Ter) c.3262G>T (p.Glu1088Ter) | |
18 | g.44953080A>C | CA402325081 | SETBP1 | c.3740A>C (p.Glu1247Ala) c.3818A>C (p.Glu1273Ala) c.3263A>C (p.Glu1088Ala) | |
18 | g.44953080A>G | CA402325082 | SETBP1 | c.3740A>G (p.Glu1247Gly) c.3818A>G (p.Glu1273Gly) c.3263A>G (p.Glu1088Gly) | ClinVar dbSNP gnomAD v4 |
18 | g.44953080A>T | CA402325083 | SETBP1 | c.3740A>T (p.Glu1247Val) c.3818A>T (p.Glu1273Val) c.3263A>T (p.Glu1088Val) | |
18 | g.44953084del | CA503982921 | SETBP1 | c.3744del (p.Gly1249GlufsTer3) c.3822del (p.Gly1275GlufsTer3) c.3267del (p.Gly1090GlufsTer3) | COSMIC |
18 | g.44953081A>C | CA402325084 | SETBP1 | c.3741A>C (p.Glu1247Asp) c.3819A>C (p.Glu1273Asp) c.3264A>C (p.Glu1088Asp) | |
18 | g.44953081A>G | CA503982924 | SETBP1 | c.3741A>G (p.Glu1247=) c.3819A>G (p.Glu1273=) c.3264A>G (p.Glu1088=) | gnomAD v4 |
18 | g.44953081A>T | CA402325085 | SETBP1 | c.3741A>T (p.Glu1247Asp) c.3819A>T (p.Glu1273Asp) c.3264A>T (p.Glu1088Asp) | |
18 | g.44953082A>C | CA402325086 | SETBP1 | c.3742A>C (p.Lys1248Gln) c.3820A>C (p.Lys1274Gln) c.3265A>C (p.Lys1089Gln) | |
18 | g.44953082A>G | CA402325087 | SETBP1 | c.3742A>G (p.Lys1248Glu) c.3820A>G (p.Lys1274Glu) c.3265A>G (p.Lys1089Glu) | |
18 | g.44953082A>T | CA402325088 | SETBP1 | c.3742A>T (p.Lys1248Ter) c.3820A>T (p.Lys1274Ter) c.3265A>T (p.Lys1089Ter) | |
18 | g.44953083A>C | CA402325089 | SETBP1 | c.3743A>C (p.Lys1248Thr) c.3821A>C (p.Lys1274Thr) c.3266A>C (p.Lys1089Thr) | |
18 | g.44953083A>G | CA402325090 | SETBP1 | c.3743A>G (p.Lys1248Arg) c.3821A>G (p.Lys1274Arg) c.3266A>G (p.Lys1089Arg) | |
18 | g.44953083A>T | CA402325091 | SETBP1 | c.3743A>T (p.Lys1248Ile) c.3821A>T (p.Lys1274Ile) c.3266A>T (p.Lys1089Ile) | |
18 | g.44953084A= | CA2300141249 | SETBP1 | c.3744A= (p.Lys1248=) c.3822A= (p.Lys1274=) c.3267A= (p.Lys1089=) | |
18 | g.44953084A>C | CA402325093 | SETBP1 | c.3744A>C (p.Lys1248Asn) c.3822A>C (p.Lys1274Asn) c.3267A>C (p.Lys1089Asn) | |
18 | g.44953084A>G | CA8945973 | SETBP1 | c.3744A>G (p.Lys1248=) c.3822A>G (p.Lys1274=) c.3267A>G (p.Lys1089=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953084A>T | CA402325092 | SETBP1 | c.3744A>T (p.Lys1248Asn) c.3822A>T (p.Lys1274Asn) c.3267A>T (p.Lys1089Asn) | |
18 | g.44953085G>A | CA402325094 | SETBP1 | c.3745G>A (p.Gly1249Arg) c.3823G>A (p.Gly1275Arg) c.3268G>A (p.Gly1090Arg) | |
18 | g.44953085G>C | CA402325095 | SETBP1 | c.3745G>C (p.Gly1249Arg) c.3823G>C (p.Gly1275Arg) c.3268G>C (p.Gly1090Arg) | |
18 | g.44953085G>T | CA402325096 | SETBP1 | c.3745G>T (p.Gly1249Ter) c.3823G>T (p.Gly1275Ter) c.3268G>T (p.Gly1090Ter) | |
18 | g.44953086G>A | CA402325097 | SETBP1 | c.3746G>A (p.Gly1249Glu) c.3824G>A (p.Gly1275Glu) c.3269G>A (p.Gly1090Glu) | |
18 | g.44953086G>C | CA402325098 | SETBP1 | c.3746G>C (p.Gly1249Ala) c.3824G>C (p.Gly1275Ala) c.3269G>C (p.Gly1090Ala) | |
18 | g.44953086G>T | CA402325099 | SETBP1 | c.3746G>T (p.Gly1249Val) c.3824G>T (p.Gly1275Val) c.3269G>T (p.Gly1090Val) | |
18 | g.44953087A>C | CA503982928 | SETBP1 | c.3747A>C (p.Gly1249=) c.3825A>C (p.Gly1275=) c.3270A>C (p.Gly1090=) | |
18 | g.44953087A>G | CA503982929 | SETBP1 | c.3747A>G (p.Gly1249=) c.3825A>G (p.Gly1275=) c.3270A>G (p.Gly1090=) | |
18 | g.44953087A>T | CA503982930 | SETBP1 | c.3747A>T (p.Gly1249=) c.3825A>T (p.Gly1275=) c.3270A>T (p.Gly1090=) | |
18 | g.44953088G>A | CA402325100 | SETBP1 | c.3748G>A (p.Asp1250Asn) c.3826G>A (p.Asp1276Asn) c.3271G>A (p.Asp1091Asn) | gnomAD v4 |
18 | g.44953088G>C | CA402325101 | SETBP1 | c.3748G>C (p.Asp1250His) c.3826G>C (p.Asp1276His) c.3271G>C (p.Asp1091His) | gnomAD v4 COSMIC |
18 | g.44953088G>T | CA402325102 | SETBP1 | c.3748G>T (p.Asp1250Tyr) c.3826G>T (p.Asp1276Tyr) c.3271G>T (p.Asp1091Tyr) | |
18 | g.44953089A>C | CA402325103 | SETBP1 | c.3749A>C (p.Asp1250Ala) c.3827A>C (p.Asp1276Ala) c.3272A>C (p.Asp1091Ala) | |
18 | g.44953089A>G | CA402325104 | SETBP1 | c.3749A>G (p.Asp1250Gly) c.3827A>G (p.Asp1276Gly) c.3272A>G (p.Asp1091Gly) | |
18 | g.44953089A>T | CA402325105 | SETBP1 | c.3749A>T (p.Asp1250Val) c.3827A>T (p.Asp1276Val) c.3272A>T (p.Asp1091Val) | |
18 | g.44953090C>A | CA402325106 | SETBP1 | c.3750C>A (p.Asp1250Glu) c.3828C>A (p.Asp1276Glu) c.3273C>A (p.Asp1091Glu) | |
18 | g.44953090C= | CA2300141250 | SETBP1 | c.3750C= (p.Asp1250=) c.3828C= (p.Asp1276=) c.3273C= (p.Asp1091=) | |
18 | g.44953090C>G | CA402325107 | SETBP1 | c.3750C>G (p.Asp1250Glu) c.3828C>G (p.Asp1276Glu) c.3273C>G (p.Asp1091Glu) | |
18 | g.44953090C>T | CA8945974 | SETBP1 | c.3750C>T (p.Asp1250=) c.3828C>T (p.Asp1276=) c.3273C>T (p.Asp1091=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.44953091T>A | CA402325108 | SETBP1 | c.3751T>A (p.Leu1251Met) c.3829T>A (p.Leu1277Met) c.3274T>A (p.Leu1092Met) | |
18 | g.44953091T>C | CA503982934 | SETBP1 | c.3751T>C (p.Leu1251=) c.3829T>C (p.Leu1277=) c.3274T>C (p.Leu1092=) | |
18 | g.44953091T>G | CA402325109 | SETBP1 | c.3751T>G (p.Leu1251Val) c.3829T>G (p.Leu1277Val) c.3274T>G (p.Leu1092Val) | dbSNP |
18 | g.44953091T= | CA2300141251 | SETBP1 | c.3751T= (p.Leu1251=) c.3829T= (p.Leu1277=) c.3274T= (p.Leu1092=) | |
18 | g.44953092T>A | CA402325110 | SETBP1 | c.3752T>A (p.Leu1251Ter) c.3830T>A (p.Leu1277Ter) c.3275T>A (p.Leu1092Ter) | |
18 | g.44953092T>C | CA402325111 | SETBP1 | c.3752T>C (p.Leu1251Ser) c.3830T>C (p.Leu1277Ser) c.3275T>C (p.Leu1092Ser) | |
18 | g.44953092T>G | CA402325112 | SETBP1 | c.3752T>G (p.Leu1251Trp) c.3830T>G (p.Leu1277Trp) c.3275T>G (p.Leu1092Trp) | |
18 | g.44953093G>A | CA503982935 | SETBP1 | c.3753G>A (p.Leu1251=) c.3831G>A (p.Leu1277=) c.3276G>A (p.Leu1092=) | |
18 | g.44953093G>C | CA402325113 | SETBP1 | c.3753G>C (p.Leu1251Phe) c.3831G>C (p.Leu1277Phe) c.3276G>C (p.Leu1092Phe) | |
18 | g.44953093G>T | CA402325114 | SETBP1 | c.3753G>T (p.Leu1251Phe) c.3831G>T (p.Leu1277Phe) c.3276G>T (p.Leu1092Phe) | |
18 | g.44953094A>C | CA402325115 | SETBP1 | c.3754A>C (p.Ser1252Arg) c.3832A>C (p.Ser1278Arg) c.3277A>C (p.Ser1093Arg) | |
18 | g.44953094A>G | CA402325116 | SETBP1 | c.3754A>G (p.Ser1252Gly) c.3832A>G (p.Ser1278Gly) c.3277A>G (p.Ser1093Gly) | |
18 | g.44953094A>T | CA402325117 | SETBP1 | c.3754A>T (p.Ser1252Cys) c.3832A>T (p.Ser1278Cys) c.3277A>T (p.Ser1093Cys) | |
18 | g.44953095G>A | CA8945975 | SETBP1 | c.3755G>A (p.Ser1252Asn) c.3833G>A (p.Ser1278Asn) c.3278G>A (p.Ser1093Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953095G>C | CA402325118 | SETBP1 | c.3755G>C (p.Ser1252Thr) c.3833G>C (p.Ser1278Thr) c.3278G>C (p.Ser1093Thr) | |
18 | g.44953095G= | CA2300141252 | SETBP1 | c.3755G= (p.Ser1252=) c.3833G= (p.Ser1278=) c.3278G= (p.Ser1093=) | |
18 | g.44953095G>T | CA402325119 | SETBP1 | c.3755G>T (p.Ser1252Ile) c.3833G>T (p.Ser1278Ile) c.3278G>T (p.Ser1093Ile) | gnomAD v4 |
18 | g.44953096C>A | CA402325120 | SETBP1 | c.3756C>A (p.Ser1252Arg) c.3834C>A (p.Ser1278Arg) c.3279C>A (p.Ser1093Arg) | |
18 | g.44953096C>G | CA402325121 | SETBP1 | c.3756C>G (p.Ser1252Arg) c.3834C>G (p.Ser1278Arg) c.3279C>G (p.Ser1093Arg) | |
18 | g.44953096C>T | CA503982937 | SETBP1 | c.3756C>T (p.Ser1252=) c.3834C>T (p.Ser1278=) c.3279C>T (p.Ser1093=) | |
18 | g.44953097A>C | CA402325122 | SETBP1 | c.3757A>C (p.Ser1253Arg) c.3835A>C (p.Ser1279Arg) c.3280A>C (p.Ser1094Arg) | |
18 | g.44953097A>G | CA402325124 | SETBP1 | c.3757A>G (p.Ser1253Gly) c.3835A>G (p.Ser1279Gly) c.3280A>G (p.Ser1094Gly) | |
18 | g.44953097A>T | CA402325123 | SETBP1 | c.3757A>T (p.Ser1253Cys) c.3835A>T (p.Ser1279Cys) c.3280A>T (p.Ser1094Cys) | |
18 | g.44953098G>A | CA402325125 | SETBP1 | c.3758G>A (p.Ser1253Asn) c.3836G>A (p.Ser1279Asn) c.3281G>A (p.Ser1094Asn) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.44953098G>C | CA402325126 | SETBP1 | c.3758G>C (p.Ser1253Thr) c.3836G>C (p.Ser1279Thr) c.3281G>C (p.Ser1094Thr) | |
18 | g.44953098G= | CA2300141253 | SETBP1 | c.3758G= (p.Ser1253=) c.3836G= (p.Ser1279=) c.3281G= (p.Ser1094=) | |
18 | g.44953098G>T | CA402325127 | SETBP1 | c.3758G>T (p.Ser1253Ile) c.3836G>T (p.Ser1279Ile) c.3281G>T (p.Ser1094Ile) | |
18 | g.44953099T>A | CA402325128 | SETBP1 | c.3759T>A (p.Ser1253Arg) c.3837T>A (p.Ser1279Arg) c.3282T>A (p.Ser1094Arg) | |
18 | g.44953099T>C | CA503982941 | SETBP1 | c.3759T>C (p.Ser1253=) c.3837T>C (p.Ser1279=) c.3282T>C (p.Ser1094=) | |
18 | g.44953099T>G | CA402325129 | SETBP1 | c.3759T>G (p.Ser1253Arg) c.3837T>G (p.Ser1279Arg) c.3282T>G (p.Ser1094Arg) | |
18 | g.44953100G>A | CA402325130 | SETBP1 | c.3760G>A (p.Glu1254Lys) c.3838G>A (p.Glu1280Lys) c.3283G>A (p.Glu1095Lys) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.44953100G>C | CA402325131 | SETBP1 | c.3760G>C (p.Glu1254Gln) c.3838G>C (p.Glu1280Gln) c.3283G>C (p.Glu1095Gln) | dbSNP |
18 | g.44953100G= | CA2300141254 | SETBP1 | c.3760G= (p.Glu1254=) c.3838G= (p.Glu1280=) c.3283G= (p.Glu1095=) | |
18 | g.44953100G>T | CA402325132 | SETBP1 | c.3760G>T (p.Glu1254Ter) c.3838G>T (p.Glu1280Ter) c.3283G>T (p.Glu1095Ter) | |
18 | g.44953101A>C | CA402325133 | SETBP1 | c.3761A>C (p.Glu1254Ala) c.3839A>C (p.Glu1280Ala) c.3284A>C (p.Glu1095Ala) | |
18 | g.44953101A>G | CA402325134 | SETBP1 | c.3761A>G (p.Glu1254Gly) c.3839A>G (p.Glu1280Gly) c.3284A>G (p.Glu1095Gly) | |
18 | g.44953101A>T | CA402325135 | SETBP1 | c.3761A>T (p.Glu1254Val) c.3839A>T (p.Glu1280Val) c.3284A>T (p.Glu1095Val) | |
18 | g.44953102G>A | CA503982943 | SETBP1 | c.3762G>A (p.Glu1254=) c.3840G>A (p.Glu1280=) c.3285G>A (p.Glu1095=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.44953102G>C | CA402325136 | SETBP1 | c.3762G>C (p.Glu1254Asp) c.3840G>C (p.Glu1280Asp) c.3285G>C (p.Glu1095Asp) | |
18 | g.44953102G= | CA2300141255 | SETBP1 | c.3762G= (p.Glu1254=) c.3840G= (p.Glu1280=) c.3285G= (p.Glu1095=) | |
18 | g.44953102G>T | CA402325137 | SETBP1 | c.3762G>T (p.Glu1254Asp) c.3840G>T (p.Glu1280Asp) c.3285G>T (p.Glu1095Asp) | dbSNP |
18 | g.44953103C>A | CA402325140 | SETBP1 | c.3763C>A (p.Pro1255Thr) c.3841C>A (p.Pro1281Thr) c.3286C>A (p.Pro1096Thr) | |
18 | g.44953103C= | CA2300141256 | SETBP1 | c.3763C= (p.Pro1255=) c.3841C= (p.Pro1281=) c.3286C= (p.Pro1096=) | |
18 | g.44953103C>G | CA402325138 | SETBP1 | c.3763C>G (p.Pro1255Ala) c.3841C>G (p.Pro1281Ala) c.3286C>G (p.Pro1096Ala) | |
18 | g.44953103C>T | CA402325139 | SETBP1 | c.3763C>T (p.Pro1255Ser) c.3841C>T (p.Pro1281Ser) c.3286C>T (p.Pro1096Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953104C>A | CA402325141 | SETBP1 | c.3764C>A (p.Pro1255His) c.3842C>A (p.Pro1281His) c.3287C>A (p.Pro1096His) | COSMIC |
18 | g.44953104C>G | CA402325142 | SETBP1 | c.3764C>G (p.Pro1255Arg) c.3842C>G (p.Pro1281Arg) c.3287C>G (p.Pro1096Arg) | |
18 | g.44953104C>T | CA402325143 | SETBP1 | c.3764C>T (p.Pro1255Leu) c.3842C>T (p.Pro1281Leu) c.3287C>T (p.Pro1096Leu) | COSMIC |
18 | g.44953105T>A | CA503982945 | SETBP1 | c.3765T>A (p.Pro1255=) c.3843T>A (p.Pro1281=) c.3288T>A (p.Pro1096=) | |
18 | g.44953105T>C | CA503982946 | SETBP1 | c.3765T>C (p.Pro1255=) c.3843T>C (p.Pro1281=) c.3288T>C (p.Pro1096=) | gnomAD v4 |
18 | g.44953105T>G | CA503982948 | SETBP1 | c.3765T>G (p.Pro1255=) c.3843T>G (p.Pro1281=) c.3288T>G (p.Pro1096=) | |
18 | g.44953105T= | CA2300141257 | SETBP1 | c.3765T= (p.Pro1255=) c.3843T= (p.Pro1281=) c.3288T= (p.Pro1096=) | |
18 | g.44953105dup | CA2695227491 | SETBP1 | c.3765dup (p.Val1256CysfsTer28) c.3843dup (p.Val1282CysfsTer28) c.3288dup (p.Val1097CysfsTer28) | |
18 | g.44953106G>A | CA402325144 | SETBP1 | c.3766G>A (p.Val1256Met) c.3844G>A (p.Val1282Met) c.3289G>A (p.Val1097Met) | dbSNP |
18 | g.44953106G>C | CA402325145 | SETBP1 | c.3766G>C (p.Val1256Leu) c.3844G>C (p.Val1282Leu) c.3289G>C (p.Val1097Leu) | |
18 | g.44953106G= | CA2300141258 | SETBP1 | c.3766G= (p.Val1256=) c.3844G= (p.Val1282=) c.3289G= (p.Val1097=) | |
18 | g.44953106G>T | CA402325146 | SETBP1 | c.3766G>T (p.Val1256Leu) c.3844G>T (p.Val1282Leu) c.3289G>T (p.Val1097Leu) | |
18 | g.44953110_44953140dup | CA1139666049 | SETBP1 | c.3770_3800dup (p.Gly1268LeufsTer26) c.3848_3878dup (p.Gly1294LeufsTer26) c.3293_3323dup (p.Gly1109LeufsTer26) | ClinVar dbSNP |
18 | g.44953107T>A | CA402325147 | SETBP1 | c.3767T>A (p.Val1256Glu) c.3845T>A (p.Val1282Glu) c.3290T>A (p.Val1097Glu) | |
18 | g.44953107T>C | CA8945976 | SETBP1 | c.3767T>C (p.Val1256Ala) c.3845T>C (p.Val1282Ala) c.3290T>C (p.Val1097Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.44953107T>G | CA402325148 | SETBP1 | c.3767T>G (p.Val1256Gly) c.3845T>G (p.Val1282Gly) c.3290T>G (p.Val1097Gly) | |
18 | g.44953107T= | CA2300141259 | SETBP1 | c.3767T= (p.Val1256=) c.3845T= (p.Val1282=) c.3290T= (p.Val1097=) | |
18 | g.44953108G>A | CA503982949 | SETBP1 | c.3768G>A (p.Val1256=) c.3846G>A (p.Val1282=) c.3291G>A (p.Val1097=) | |
18 | g.44953108G>C | CA503982950 | SETBP1 | c.3768G>C (p.Val1256=) c.3846G>C (p.Val1282=) c.3291G>C (p.Val1097=) | |
18 | g.44953108G>T | CA503982951 | SETBP1 | c.3768G>T (p.Val1256=) c.3846G>T (p.Val1282=) c.3291G>T (p.Val1097=) | |
18 | g.44953109G>A | CA402325149 | SETBP1 | c.3769G>A (p.Asp1257Asn) c.3847G>A (p.Asp1283Asn) c.3292G>A (p.Asp1098Asn) | |
18 | g.44953109G>C | CA299699733 | SETBP1 | c.3769G>C (p.Asp1257His) c.3847G>C (p.Asp1283His) c.3292G>C (p.Asp1098His) | dbSNP |
18 | g.44953109G= | CA2300141260 | SETBP1 | c.3769G= (p.Asp1257=) c.3847G= (p.Asp1283=) c.3292G= (p.Asp1098=) | |
18 | g.44953109G>T | CA402325150 | SETBP1 | c.3769G>T (p.Asp1257Tyr) c.3847G>T (p.Asp1283Tyr) c.3292G>T (p.Asp1098Tyr) | gnomAD v4 |
18 | g.44953110A= | CA2300141261 | SETBP1 | c.3770A= (p.Asp1257=) c.3848A= (p.Asp1283=) c.3293A= (p.Asp1098=) | |
18 | g.44953110A>C | CA402325152 | SETBP1 | c.3770A>C (p.Asp1257Ala) c.3848A>C (p.Asp1283Ala) c.3293A>C (p.Asp1098Ala) | |
18 | g.44953110A>G | CA8945977 | SETBP1 | c.3770A>G (p.Asp1257Gly) c.3848A>G (p.Asp1283Gly) c.3293A>G (p.Asp1098Gly) | ClinVar dbSNP ExAC gnomAD v2 |
18 | g.44953110A>T | CA402325151 | SETBP1 | c.3770A>T (p.Asp1257Val) c.3848A>T (p.Asp1283Val) c.3293A>T (p.Asp1098Val) | |
18 | g.44953111C>A | CA402325153 | SETBP1 | c.3771C>A (p.Asp1257Glu) c.3849C>A (p.Asp1283Glu) c.3294C>A (p.Asp1098Glu) | |
18 | g.44953111C>G | CA402325154 | SETBP1 | c.3771C>G (p.Asp1257Glu) c.3849C>G (p.Asp1283Glu) c.3294C>G (p.Asp1098Glu) | |
18 | g.44953111C>T | CA503982953 | SETBP1 | c.3771C>T (p.Asp1257=) c.3849C>T (p.Asp1283=) c.3294C>T (p.Asp1098=) | |
18 | g.44953112T>A | CA402325155 | SETBP1 | c.3772T>A (p.Ser1258Thr) c.3850T>A (p.Ser1284Thr) c.3295T>A (p.Ser1099Thr) | |
18 | g.44953112T>C | CA402325156 | SETBP1 | c.3772T>C (p.Ser1258Pro) c.3850T>C (p.Ser1284Pro) c.3295T>C (p.Ser1099Pro) | |
18 | g.44953112T>G | CA402325157 | SETBP1 | c.3772T>G (p.Ser1258Ala) c.3850T>G (p.Ser1284Ala) c.3295T>G (p.Ser1099Ala) | |
18 | g.44953113C>A | CA402325158 | SETBP1 | c.3773C>A (p.Ser1258Ter) c.3851C>A (p.Ser1284Ter) c.3296C>A (p.Ser1099Ter) | |
18 | g.44953113C= | CA2300141262 | SETBP1 | c.3773C= (p.Ser1258=) c.3851C= (p.Ser1284=) c.3296C= (p.Ser1099=) | |
18 | g.44953113C>G | CA402325159 | SETBP1 | c.3773C>G (p.Ser1258Ter) c.3851C>G (p.Ser1284Ter) c.3296C>G (p.Ser1099Ter) | |
18 | g.44953113C>T | CA8945978 | SETBP1 | c.3773C>T (p.Ser1258Leu) c.3851C>T (p.Ser1284Leu) c.3296C>T (p.Ser1099Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953114A= | CA2300141263 | SETBP1 | c.3774A= (p.Ser1258=) c.3852A= (p.Ser1284=) c.3297A= (p.Ser1099=) | |
18 | g.44953114A>C | CA503982954 | SETBP1 | c.3774A>C (p.Ser1258=) c.3852A>C (p.Ser1284=) c.3297A>C (p.Ser1099=) | |
18 | g.44953114A>G | CA503982955 | SETBP1 | c.3774A>G (p.Ser1258=) c.3852A>G (p.Ser1284=) c.3297A>G (p.Ser1099=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953114A>T | CA503982956 | SETBP1 | c.3774A>T (p.Ser1258=) c.3852A>T (p.Ser1284=) c.3297A>T (p.Ser1099=) | COSMIC |
18 | g.44953115T>A | CA402325162 | SETBP1 | c.3775T>A (p.Cys1259Ser) c.3853T>A (p.Cys1285Ser) c.3298T>A (p.Cys1100Ser) | ClinVar dbSNP |
18 | g.44953115T>C | CA402325160 | SETBP1 | c.3775T>C (p.Cys1259Arg) c.3853T>C (p.Cys1285Arg) c.3298T>C (p.Cys1100Arg) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.44953115T>G | CA402325161 | SETBP1 | c.3775T>G (p.Cys1259Gly) c.3853T>G (p.Cys1285Gly) c.3298T>G (p.Cys1100Gly) | |
18 | g.44953115T= | CA2300141264 | SETBP1 | c.3775T= (p.Cys1259=) c.3853T= (p.Cys1285=) c.3298T= (p.Cys1100=) | |
18 | g.44953116G>A | CA402325163 | SETBP1 | c.3776G>A (p.Cys1259Tyr) c.3854G>A (p.Cys1285Tyr) c.3299G>A (p.Cys1100Tyr) | |
18 | g.44953116G>C | CA402325164 | SETBP1 | c.3776G>C (p.Cys1259Ser) c.3854G>C (p.Cys1285Ser) c.3299G>C (p.Cys1100Ser) | |
18 | g.44953116G= | CA2300141265 | SETBP1 | c.3776G= (p.Cys1259=) c.3854G= (p.Cys1285=) c.3299G= (p.Cys1100=) | |
18 | g.44953116G>T | CA402325165 | SETBP1 | c.3776G>T (p.Cys1259Phe) c.3854G>T (p.Cys1285Phe) c.3299G>T (p.Cys1100Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953117C>A | CA402325166 | SETBP1 | c.3777C>A (p.Cys1259Ter) c.3855C>A (p.Cys1285Ter) c.3300C>A (p.Cys1100Ter) | |
18 | g.44953117C>G | CA402325167 | SETBP1 | c.3777C>G (p.Cys1259Trp) c.3855C>G (p.Cys1285Trp) c.3300C>G (p.Cys1100Trp) | |
18 | g.44953117C>T | CA503982958 | SETBP1 | c.3777C>T (p.Cys1259=) c.3855C>T (p.Cys1285=) c.3300C>T (p.Cys1100=) | |
18 | g.44953118A>C | CA402325168 | SETBP1 | c.3778A>C (p.Thr1260Pro) c.3856A>C (p.Thr1286Pro) c.3301A>C (p.Thr1101Pro) | |
18 | g.44953118A>G | CA402325170 | SETBP1 | c.3778A>G (p.Thr1260Ala) c.3856A>G (p.Thr1286Ala) c.3301A>G (p.Thr1101Ala) | |
18 | g.44953118A>T | CA402325169 | SETBP1 | c.3778A>T (p.Thr1260Ser) c.3856A>T (p.Thr1286Ser) c.3301A>T (p.Thr1101Ser) | |
18 | g.44953119C>A | CA402325171 | SETBP1 | c.3779C>A (p.Thr1260Lys) c.3857C>A (p.Thr1286Lys) c.3302C>A (p.Thr1101Lys) | |
18 | g.44953119C= | CA2300141266 | SETBP1 | c.3779C= (p.Thr1260=) c.3857C= (p.Thr1286=) c.3302C= (p.Thr1101=) | |
18 | g.44953119C>G | CA402325172 | SETBP1 | c.3779C>G (p.Thr1260Arg) c.3857C>G (p.Thr1286Arg) c.3302C>G (p.Thr1101Arg) | gnomAD v4 |
18 | g.44953119C>T | CA8945979 | SETBP1 | c.3779C>T (p.Thr1260Met) c.3857C>T (p.Thr1286Met) c.3302C>T (p.Thr1101Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953120G>A | CA8945980 | SETBP1 | c.3780G>A (p.Thr1260=) c.3858G>A (p.Thr1286=) c.3303G>A (p.Thr1101=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.44953120G>C | CA503982959 | SETBP1 | c.3780G>C (p.Thr1260=) c.3858G>C (p.Thr1286=) c.3303G>C (p.Thr1101=) | |
18 | g.44953120G= | CA2300141267 | SETBP1 | c.3780G= (p.Thr1260=) c.3858G= (p.Thr1286=) c.3303G= (p.Thr1101=) | |
18 | g.44953120G>T | CA503982960 | SETBP1 | c.3780G>T (p.Thr1260=) c.3858G>T (p.Thr1286=) c.3303G>T (p.Thr1101=) | |
18 | g.44953121A>C | CA402325173 | SETBP1 | c.3781A>C (p.Lys1261Gln) c.3859A>C (p.Lys1287Gln) c.3304A>C (p.Lys1102Gln) | |
18 | g.44953121A>G | CA402325174 | SETBP1 | c.3781A>G (p.Lys1261Glu) c.3859A>G (p.Lys1287Glu) c.3304A>G (p.Lys1102Glu) | COSMIC |
18 | g.44953121A>T | CA402325175 | SETBP1 | c.3781A>T (p.Lys1261Ter) c.3859A>T (p.Lys1287Ter) c.3304A>T (p.Lys1102Ter) | |
18 | g.44953122A= | CA2300141268 | SETBP1 | c.3782A= (p.Lys1261=) c.3860A= (p.Lys1287=) c.3305A= (p.Lys1102=) | |
18 | g.44953122A>C | CA402325176 | SETBP1 | c.3782A>C (p.Lys1261Thr) c.3860A>C (p.Lys1287Thr) c.3305A>C (p.Lys1102Thr) | |
18 | g.44953122A>G | CA8945981 | SETBP1 | c.3782A>G (p.Lys1261Arg) c.3860A>G (p.Lys1287Arg) c.3305A>G (p.Lys1102Arg) | dbSNP ExAC gnomAD v2 |
18 | g.44953122A>T | CA402325177 | SETBP1 | c.3782A>T (p.Lys1261Ile) c.3860A>T (p.Lys1287Ile) c.3305A>T (p.Lys1102Ile) | dbSNP |
18 | g.44953123A>C | CA402325178 | SETBP1 | c.3783A>C (p.Lys1261Asn) c.3861A>C (p.Lys1287Asn) c.3306A>C (p.Lys1102Asn) | |
18 | g.44953123A>G | CA503982962 | SETBP1 | c.3783A>G (p.Lys1261=) c.3861A>G (p.Lys1287=) c.3306A>G (p.Lys1102=) | |
18 | g.44953123A>T | CA402325179 | SETBP1 | c.3783A>T (p.Lys1261Asn) c.3861A>T (p.Lys1287Asn) c.3306A>T (p.Lys1102Asn) | |
18 | g.44953124A= | CA2300141269 | SETBP1 | c.3784A= (p.Arg1262=) c.3862A= (p.Arg1288=) c.3307A= (p.Arg1103=) | |
18 | g.44953124A>C | CA503982963 | SETBP1 | c.3784A>C (p.Arg1262=) c.3862A>C (p.Arg1288=) c.3307A>C (p.Arg1103=) | dbSNP gnomAD v4 |
18 | g.44953124A>G | CA402325180 | SETBP1 | c.3784A>G (p.Arg1262Gly) c.3862A>G (p.Arg1288Gly) c.3307A>G (p.Arg1103Gly) | |
18 | g.44953124A>T | CA402325181 | SETBP1 | c.3784A>T (p.Arg1262Ter) c.3862A>T (p.Arg1288Ter) c.3307A>T (p.Arg1103Ter) | |
18 | g.44953125G>A | CA402325182 | SETBP1 | c.3785G>A (p.Arg1262Lys) c.3863G>A (p.Arg1288Lys) c.3308G>A (p.Arg1103Lys) | |
18 | g.44953125G>C | CA402325183 | SETBP1 | c.3785G>C (p.Arg1262Thr) c.3863G>C (p.Arg1288Thr) c.3308G>C (p.Arg1103Thr) | COSMIC |
18 | g.44953125G>T | CA402325184 | SETBP1 | c.3785G>T (p.Arg1262Ile) c.3863G>T (p.Arg1288Ile) c.3308G>T (p.Arg1103Ile) | |
18 | g.44953126A>C | CA402325185 | SETBP1 | c.3786A>C (p.Arg1262Ser) c.3864A>C (p.Arg1288Ser) c.3309A>C (p.Arg1103Ser) | |
18 | g.44953126A>G | CA503982967 | SETBP1 | c.3786A>G (p.Arg1262=) c.3864A>G (p.Arg1288=) c.3309A>G (p.Arg1103=) | ClinVar |
18 | g.44953126A>T | CA402325186 | SETBP1 | c.3786A>T (p.Arg1262Ser) c.3864A>T (p.Arg1288Ser) c.3309A>T (p.Arg1103Ser) | |
18 | g.44953127T>A | CA402325187 | SETBP1 | c.3787T>A (p.Tyr1263Asn) c.3865T>A (p.Tyr1289Asn) c.3310T>A (p.Tyr1104Asn) | |
18 | g.44953127T>C | CA402325188 | SETBP1 | c.3787T>C (p.Tyr1263His) c.3865T>C (p.Tyr1289His) c.3310T>C (p.Tyr1104His) | gnomAD v4 |
18 | g.44953127T>G | CA402325189 | SETBP1 | c.3787T>G (p.Tyr1263Asp) c.3865T>G (p.Tyr1289Asp) c.3310T>G (p.Tyr1104Asp) | |
18 | g.44953128A= | CA2300141270 | SETBP1 | c.3788A= (p.Tyr1263=) c.3866A= (p.Tyr1289=) c.3311A= (p.Tyr1104=) | |
18 | g.44953128A>C | CA402325190 | SETBP1 | c.3788A>C (p.Tyr1263Ser) c.3866A>C (p.Tyr1289Ser) c.3311A>C (p.Tyr1104Ser) | |
18 | g.44953128A>G | CA299699782 | SETBP1 | c.3788A>G (p.Tyr1263Cys) c.3866A>G (p.Tyr1289Cys) c.3311A>G (p.Tyr1104Cys) | dbSNP |
18 | g.44953128A>T | CA402325191 | SETBP1 | c.3788A>T (p.Tyr1263Phe) c.3866A>T (p.Tyr1289Phe) c.3311A>T (p.Tyr1104Phe) | |
18 | g.44953129C>A | CA402325192 | SETBP1 | c.3789C>A (p.Tyr1263Ter) c.3867C>A (p.Tyr1289Ter) c.3312C>A (p.Tyr1104Ter) | COSMIC |
18 | g.44953129C>G | CA402325193 | SETBP1 | c.3789C>G (p.Tyr1263Ter) c.3867C>G (p.Tyr1289Ter) c.3312C>G (p.Tyr1104Ter) | |
18 | g.44953129C>T | CA503982972 | SETBP1 | c.3789C>T (p.Tyr1263=) c.3867C>T (p.Tyr1289=) c.3312C>T (p.Tyr1104=) | ClinVar |
18 | g.44953130T>A | CA402325195 | SETBP1 | c.3790T>A (p.Ser1264Thr) c.3868T>A (p.Ser1290Thr) c.3313T>A (p.Ser1105Thr) | |
18 | g.44953130T>C | CA402325194 | SETBP1 | c.3790T>C (p.Ser1264Pro) c.3868T>C (p.Ser1290Pro) c.3313T>C (p.Ser1105Pro) | gnomAD v4 |
18 | g.44953130T>G | CA8945982 | SETBP1 | c.3790T>G (p.Ser1264Ala) c.3868T>G (p.Ser1290Ala) c.3313T>G (p.Ser1105Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953130T= | CA2300141271 | SETBP1 | c.3790T= (p.Ser1264=) c.3868T= (p.Ser1290=) c.3313T= (p.Ser1105=) | |
18 | g.44953131C>A | CA402325196 | SETBP1 | c.3791C>A (p.Ser1264Tyr) c.3869C>A (p.Ser1290Tyr) c.3314C>A (p.Ser1105Tyr) | |
18 | g.44953131C>G | CA402325197 | SETBP1 | c.3791C>G (p.Ser1264Cys) c.3869C>G (p.Ser1290Cys) c.3314C>G (p.Ser1105Cys) | |
18 | g.44953131C>T | CA402325198 | SETBP1 | c.3791C>T (p.Ser1264Phe) c.3869C>T (p.Ser1290Phe) c.3314C>T (p.Ser1105Phe) | |
18 | g.44953132T>A | CA503982976 | SETBP1 | c.3792T>A (p.Ser1264=) c.3870T>A (p.Ser1290=) c.3315T>A (p.Ser1105=) | |
18 | g.44953132T>C | CA503982975 | SETBP1 | c.3792T>C (p.Ser1264=) c.3870T>C (p.Ser1290=) c.3315T>C (p.Ser1105=) | gnomAD v4 |
18 | g.44953132T>G | CA503982974 | SETBP1 | c.3792T>G (p.Ser1264=) c.3870T>G (p.Ser1290=) c.3315T>G (p.Ser1105=) | COSMIC |
18 | g.44953133G>A | CA402325199 | SETBP1 | c.3793G>A (p.Gly1265Ser) c.3871G>A (p.Gly1291Ser) c.3316G>A (p.Gly1106Ser) | dbSNP |
18 | g.44953133G>C | CA402325200 | SETBP1 | c.3793G>C (p.Gly1265Arg) c.3871G>C (p.Gly1291Arg) c.3316G>C (p.Gly1106Arg) | |
18 | g.44953133G= | CA2300141272 | SETBP1 | c.3793G= (p.Gly1265=) c.3871G= (p.Gly1291=) c.3316G= (p.Gly1106=) | |
18 | g.44953133G>T | CA402325201 | SETBP1 | c.3793G>T (p.Gly1265Cys) c.3871G>T (p.Gly1291Cys) c.3316G>T (p.Gly1106Cys) | |
18 | g.44953134G>A | CA402325202 | SETBP1 | c.3794G>A (p.Gly1265Asp) c.3872G>A (p.Gly1291Asp) c.3317G>A (p.Gly1106Asp) | |
18 | g.44953134G>C | CA402325203 | SETBP1 | c.3794G>C (p.Gly1265Ala) c.3872G>C (p.Gly1291Ala) c.3317G>C (p.Gly1106Ala) | |
18 | g.44953134G>T | CA402325204 | SETBP1 | c.3794G>T (p.Gly1265Val) c.3872G>T (p.Gly1291Val) c.3317G>T (p.Gly1106Val) | |
18 | g.44953135C>A | CA503982980 | SETBP1 | c.3795C>A (p.Gly1265=) c.3873C>A (p.Gly1291=) c.3318C>A (p.Gly1106=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953135C= | CA2300141273 | SETBP1 | c.3795C= (p.Gly1265=) c.3873C= (p.Gly1291=) c.3318C= (p.Gly1106=) | |
18 | g.44953135C>G | CA503982981 | SETBP1 | c.3795C>G (p.Gly1265=) c.3873C>G (p.Gly1291=) c.3318C>G (p.Gly1106=) | |
18 | g.44953135C>T | CA503982982 | SETBP1 | c.3795C>T (p.Gly1265=) c.3873C>T (p.Gly1291=) c.3318C>T (p.Gly1106=) | |
18 | g.44953136A= | CA2300141274 | SETBP1 | c.3796A= (p.Ser1266=) c.3874A= (p.Ser1292=) c.3319A= (p.Ser1107=) | |
18 | g.44953136A>C | CA402325205 | SETBP1 | c.3796A>C (p.Ser1266Arg) c.3874A>C (p.Ser1292Arg) c.3319A>C (p.Ser1107Arg) | |
18 | g.44953136A>G | CA402325206 | SETBP1 | c.3796A>G (p.Ser1266Gly) c.3874A>G (p.Ser1292Gly) c.3319A>G (p.Ser1107Gly) | |
18 | g.44953136A>T | CA402325207 | SETBP1 | c.3796A>T (p.Ser1266Cys) c.3874A>T (p.Ser1292Cys) c.3319A>T (p.Ser1107Cys) | ClinVar dbSNP gnomAD v4 |
18 | g.44953137G>A | CA402325208 | SETBP1 | c.3797G>A (p.Ser1266Asn) c.3875G>A (p.Ser1292Asn) c.3320G>A (p.Ser1107Asn) | ClinVar |
18 | g.44953137G>C | CA402325210 | SETBP1 | c.3797G>C (p.Ser1266Thr) c.3875G>C (p.Ser1292Thr) c.3320G>C (p.Ser1107Thr) | |
18 | g.44953137G>T | CA402325209 | SETBP1 | c.3797G>T (p.Ser1266Ile) c.3875G>T (p.Ser1292Ile) c.3320G>T (p.Ser1107Ile) | |
18 | g.44953138T>A | CA402325211 | SETBP1 | c.3798T>A (p.Ser1266Arg) c.3876T>A (p.Ser1292Arg) c.3321T>A (p.Ser1107Arg) | |
18 | g.44953138T>C | CA503982986 | SETBP1 | c.3798T>C (p.Ser1266=) c.3876T>C (p.Ser1292=) c.3321T>C (p.Ser1107=) | |
18 | g.44953138T>G | CA402325212 | SETBP1 | c.3798T>G (p.Ser1266Arg) c.3876T>G (p.Ser1292Arg) c.3321T>G (p.Ser1107Arg) | |
18 | g.44953139G>A | CA402325213 | SETBP1 | c.3799G>A (p.Gly1267Ser) c.3877G>A (p.Gly1293Ser) c.3322G>A (p.Gly1108Ser) | gnomAD v4 |
18 | g.44953139G>C | CA402325214 | SETBP1 | c.3799G>C (p.Gly1267Arg) c.3877G>C (p.Gly1293Arg) c.3322G>C (p.Gly1108Arg) | |
18 | g.44953139G>T | CA402325215 | SETBP1 | c.3799G>T (p.Gly1267Cys) c.3877G>T (p.Gly1293Cys) c.3322G>T (p.Gly1108Cys) | ClinVar |
18 | g.44953139_44953140insC | CA2695227492 | SETBP1 | c.3799_3800insC (p.Gly1267AlafsTer17) c.3877_3878insC (p.Gly1293AlafsTer17) c.3322_3323insC (p.Gly1108AlafsTer17) | |
18 | g.44953140G>A | CA402325216 | SETBP1 | c.3800G>A (p.Gly1267Asp) c.3878G>A (p.Gly1293Asp) c.3323G>A (p.Gly1108Asp) | gnomAD v4 |
18 | g.44953140G>C | CA402325217 | SETBP1 | c.3800G>C (p.Gly1267Ala) c.3878G>C (p.Gly1293Ala) c.3323G>C (p.Gly1108Ala) | |
18 | g.44953140G>T | CA402325218 | SETBP1 | c.3800G>T (p.Gly1267Val) c.3878G>T (p.Gly1293Val) c.3323G>T (p.Gly1108Val) | |
18 | g.44953141C>A | CA503982990 | SETBP1 | c.3801C>A (p.Gly1267=) c.3879C>A (p.Gly1293=) c.3324C>A (p.Gly1108=) | dbSNP |
18 | g.44953141C= | CA2300141275 | SETBP1 | c.3801C= (p.Gly1267=) c.3879C= (p.Gly1293=) c.3324C= (p.Gly1108=) | |
18 | g.44953141C>G | CA503982992 | SETBP1 | c.3801C>G (p.Gly1267=) c.3879C>G (p.Gly1293=) c.3324C>G (p.Gly1108=) | |
18 | g.44953141C>T | CA8945983 | SETBP1 | c.3801C>T (p.Gly1267=) c.3879C>T (p.Gly1293=) c.3324C>T (p.Gly1108=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
18 | g.44953142G>A | CA8945984 | SETBP1 | c.3802G>A (p.Gly1268Arg) c.3880G>A (p.Gly1294Arg) c.3325G>A (p.Gly1109Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953142G>C | CA402325219 | SETBP1 | c.3802G>C (p.Gly1268Arg) c.3880G>C (p.Gly1294Arg) c.3325G>C (p.Gly1109Arg) | gnomAD v4 |
18 | g.44953142G= | CA2300141276 | SETBP1 | c.3802G= (p.Gly1268=) c.3880G= (p.Gly1294=) c.3325G= (p.Gly1109=) | |
18 | g.44953142G>T | CA402325220 | SETBP1 | c.3802G>T (p.Gly1268Trp) c.3880G>T (p.Gly1294Trp) c.3325G>T (p.Gly1109Trp) | ClinVar |
18 | g.44953143G>A | CA402325221 | SETBP1 | c.3803G>A (p.Gly1268Glu) c.3881G>A (p.Gly1294Glu) c.3326G>A (p.Gly1109Glu) | |
18 | g.44953143G>C | CA402325222 | SETBP1 | c.3803G>C (p.Gly1268Ala) c.3881G>C (p.Gly1294Ala) c.3326G>C (p.Gly1109Ala) | |
18 | g.44953143G>T | CA402325223 | SETBP1 | c.3803G>T (p.Gly1268Val) c.3881G>T (p.Gly1294Val) c.3326G>T (p.Gly1109Val) | |
18 | g.44953144G>A | CA503982995 | SETBP1 | c.3804G>A (p.Gly1268=) c.3882G>A (p.Gly1294=) c.3327G>A (p.Gly1109=) | |
18 | g.44953144G>C | CA503982996 | SETBP1 | c.3804G>C (p.Gly1268=) c.3882G>C (p.Gly1294=) c.3327G>C (p.Gly1109=) | gnomAD v4 |
18 | g.44953144G>T | CA503982998 | SETBP1 | c.3804G>T (p.Gly1268=) c.3882G>T (p.Gly1294=) c.3327G>T (p.Gly1109=) | |
18 | g.44953145G>A | CA402325226 | SETBP1 | c.3805G>A (p.Asp1269Asn) c.3883G>A (p.Asp1295Asn) c.3328G>A (p.Asp1110Asn) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.44953145G>C | CA402325225 | SETBP1 | c.3805G>C (p.Asp1269His) c.3883G>C (p.Asp1295His) c.3328G>C (p.Asp1110His) | |
18 | g.44953145G= | CA2300141278 | SETBP1 | c.3805G= (p.Asp1269=) c.3883G= (p.Asp1295=) c.3328G= (p.Asp1110=) | |
18 | g.44953145G>T | CA402325224 | SETBP1 | c.3805G>T (p.Asp1269Tyr) c.3883G>T (p.Asp1295Tyr) c.3328G>T (p.Asp1110Tyr) | |
18 | g.44953145_44953147delinsGAT | CA2300141277 | SETBP1 | c.3805_3807delinsGAT (p.Asp1269=) c.3883_3885delinsGAT (p.Asp1295=) c.3328_3330delinsGAT (p.Asp1110=) | |
18 | g.44953146_44953148del | CA645613027 | SETBP1 | c.3806_3808del (p.Asp1269del) c.3884_3886del (p.Asp1295del) c.3329_3331del (p.Asp1110del) | COSMIC |
18 | g.44953146A= | CA2300141279 | SETBP1 | c.3806A= (p.Asp1269=) c.3884A= (p.Asp1295=) c.3329A= (p.Asp1110=) | |
18 | g.44953146A>C | CA402325227 | SETBP1 | c.3806A>C (p.Asp1269Ala) c.3884A>C (p.Asp1295Ala) c.3329A>C (p.Asp1110Ala) | |
18 | g.44953146A>G | CA8945986 | SETBP1 | c.3806A>G (p.Asp1269Gly) c.3884A>G (p.Asp1295Gly) c.3329A>G (p.Asp1110Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.44953146A>T | CA8945987 | SETBP1 | c.3806A>T (p.Asp1269Val) c.3884A>T (p.Asp1295Val) c.3329A>T (p.Asp1110Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.44953146_44953147del | CA8945985 | SETBP1 | c.3806_3807del (p.Asp1269GlyfsTer14) c.3884_3885del (p.Asp1295GlyfsTer14) c.3329_3330del (p.Asp1110GlyfsTer14) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.44953147T>A | CA402325228 | SETBP1 | c.3807T>A (p.Asp1269Glu) c.3885T>A (p.Asp1295Glu) c.3330T>A (p.Asp1110Glu) | |
18 | g.44953147T>C | CA503983002 | SETBP1 | c.3807T>C (p.Asp1269=) c.3885T>C (p.Asp1295=) c.3330T>C (p.Asp1110=) | |
18 | g.44953147T>G | CA8945988 | SETBP1 | c.3807T>G (p.Asp1269Glu) c.3885T>G (p.Asp1295Glu) c.3330T>G (p.Asp1110Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.44953147T= | CA2300141280 | SETBP1 | c.3807T= (p.Asp1269=) c.3885T= (p.Asp1295=) c.3330T= (p.Asp1110=) | |
18 | g.44953148G>A | CA8945989 | SETBP1 | c.3808G>A (p.Gly1270Ser) c.3886G>A (p.Gly1296Ser) c.3331G>A (p.Gly1111Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953148G>C | CA402325229 | SETBP1 | c.3808G>C (p.Gly1270Arg) c.3886G>C (p.Gly1296Arg) c.3331G>C (p.Gly1111Arg) | |
18 | g.44953148G= | CA2300141281 | SETBP1 | c.3808G= (p.Gly1270=) c.3886G= (p.Gly1296=) c.3331G= (p.Gly1111=) | |
18 | g.44953148G>T | CA402325230 | SETBP1 | c.3808G>T (p.Gly1270Cys) c.3886G>T (p.Gly1296Cys) c.3331G>T (p.Gly1111Cys) | gnomAD v4 |
18 | g.44953149G>A | CA402325231 | SETBP1 | c.3809G>A (p.Gly1270Asp) c.3887G>A (p.Gly1296Asp) c.3332G>A (p.Gly1111Asp) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.44953149G>C | CA402325232 | SETBP1 | c.3809G>C (p.Gly1270Ala) c.3887G>C (p.Gly1296Ala) c.3332G>C (p.Gly1111Ala) | |
18 | g.44953149G= | CA2300141282 | SETBP1 | c.3809G= (p.Gly1270=) c.3887G= (p.Gly1296=) c.3332G= (p.Gly1111=) | |
18 | g.44953149G>T | CA402325233 | SETBP1 | c.3809G>T (p.Gly1270Val) c.3887G>T (p.Gly1296Val) c.3332G>T (p.Gly1111Val) | |
18 | g.44953150T>A | CA503983004 | SETBP1 | c.3810T>A (p.Gly1270=) c.3888T>A (p.Gly1296=) c.3333T>A (p.Gly1111=) | |
18 | g.44953150T>C | CA503983005 | SETBP1 | c.3810T>C (p.Gly1270=) c.3888T>C (p.Gly1296=) c.3333T>C (p.Gly1111=) | |
18 | g.44953150T>G | CA8945990 | SETBP1 | c.3810T>G (p.Gly1270=) c.3888T>G (p.Gly1296=) c.3333T>G (p.Gly1111=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.44953150T= | CA2300141283 | SETBP1 | c.3810T= (p.Gly1270=) c.3888T= (p.Gly1296=) c.3333T= (p.Gly1111=) | |
18 | g.44953151G>A | CA299699796 | SETBP1 | c.3811G>A (p.Gly1271Ser) c.3889G>A (p.Gly1297Ser) c.3334G>A (p.Gly1112Ser) | dbSNP gnomAD v4 |
18 | g.44953151G>C | CA402325235 | SETBP1 | c.3811G>C (p.Gly1271Arg) c.3889G>C (p.Gly1297Arg) c.3334G>C (p.Gly1112Arg) | |
18 | g.44953151G= | CA2300141284 | SETBP1 | c.3811G= (p.Gly1271=) c.3889G= (p.Gly1297=) c.3334G= (p.Gly1112=) | |
18 | g.44953151G>T | CA402325234 | SETBP1 | c.3811G>T (p.Gly1271Cys) c.3889G>T (p.Gly1297Cys) c.3334G>T (p.Gly1112Cys) | |
18 | g.44953152G>A | CA402325236 | SETBP1 | c.3812G>A (p.Gly1271Asp) c.3890G>A (p.Gly1297Asp) c.3335G>A (p.Gly1112Asp) | |
18 | g.44953152G>C | CA402325237 | SETBP1 | c.3812G>C (p.Gly1271Ala) c.3890G>C (p.Gly1297Ala) c.3335G>C (p.Gly1112Ala) | |
18 | g.44953152G>T | CA402325238 | SETBP1 | c.3812G>T (p.Gly1271Val) c.3890G>T (p.Gly1297Val) c.3335G>T (p.Gly1112Val) | |
18 | g.44953153C>A | CA503983010 | SETBP1 | c.3813C>A (p.Gly1271=) c.3891C>A (p.Gly1297=) c.3336C>A (p.Gly1112=) | |
18 | g.44953153C= | CA2300141285 | SETBP1 | c.3813C= (p.Gly1271=) c.3891C= (p.Gly1297=) c.3336C= (p.Gly1112=) | |
18 | g.44953153C>G | CA8945991 | SETBP1 | c.3813C>G (p.Gly1271=) c.3891C>G (p.Gly1297=) c.3336C>G (p.Gly1112=) | dbSNP ExAC gnomAD v2 |
18 | g.44953153C>T | CA503983011 | SETBP1 | c.3813C>T (p.Gly1271=) c.3891C>T (p.Gly1297=) c.3336C>T (p.Gly1112=) | |
18 | g.44953154A= | CA2300141286 | SETBP1 | c.3814A= (p.Ser1272=) c.3892A= (p.Ser1298=) c.3337A= (p.Ser1113=) | |
18 | g.44953154A>C | CA402325239 | SETBP1 | c.3814A>C (p.Ser1272Arg) c.3892A>C (p.Ser1298Arg) c.3337A>C (p.Ser1113Arg) | |
18 | g.44953154A>G | CA402325240 | SETBP1 | c.3814A>G (p.Ser1272Gly) c.3892A>G (p.Ser1298Gly) c.3337A>G (p.Ser1113Gly) | dbSNP gnomAD v2 |
18 | g.44953154A>T | CA402325241 | SETBP1 | c.3814A>T (p.Ser1272Cys) c.3892A>T (p.Ser1298Cys) c.3337A>T (p.Ser1113Cys) | |
18 | g.44953155G>A | CA402325242 | SETBP1 | c.3815G>A (p.Ser1272Asn) c.3893G>A (p.Ser1298Asn) c.3338G>A (p.Ser1113Asn) | ClinVar gnomAD v4 |
18 | g.44953155G>C | CA402325243 | SETBP1 | c.3815G>C (p.Ser1272Thr) c.3893G>C (p.Ser1298Thr) c.3338G>C (p.Ser1113Thr) | COSMIC |
18 | g.44953155G>T | CA402325244 | SETBP1 | c.3815G>T (p.Ser1272Ile) c.3893G>T (p.Ser1298Ile) c.3338G>T (p.Ser1113Ile) | |
18 | g.44953156C>A | CA402325245 | SETBP1 | c.3816C>A (p.Ser1272Arg) c.3894C>A (p.Ser1298Arg) c.3339C>A (p.Ser1113Arg) | |
18 | g.44953156C>G | CA402325246 | SETBP1 | c.3816C>G (p.Ser1272Arg) c.3894C>G (p.Ser1298Arg) c.3339C>G (p.Ser1113Arg) | |
18 | g.44953156C>T | CA503983013 | SETBP1 | c.3816C>T (p.Ser1272=) c.3894C>T (p.Ser1298=) c.3339C>T (p.Ser1113=) | |
18 | g.44953157A>C | CA402325249 | SETBP1 | c.3817A>C (p.Thr1273Pro) c.3895A>C (p.Thr1299Pro) c.3340A>C (p.Thr1114Pro) | |
18 | g.44953157A>G | CA402325247 | SETBP1 | c.3817A>G (p.Thr1273Ala) c.3895A>G (p.Thr1299Ala) c.3340A>G (p.Thr1114Ala) | |
18 | g.44953157A>T | CA402325248 | SETBP1 | c.3817A>T (p.Thr1273Ser) c.3895A>T (p.Thr1299Ser) c.3340A>T (p.Thr1114Ser) | |
18 | g.44953158C>A | CA402325250 | SETBP1 | c.3818C>A (p.Thr1273Lys) c.3896C>A (p.Thr1299Lys) c.3341C>A (p.Thr1114Lys) | gnomAD v4 |
18 | g.44953158C= | CA2300141287 | SETBP1 | c.3818C= (p.Thr1273=) c.3896C= (p.Thr1299=) c.3341C= (p.Thr1114=) | |
18 | g.44953158C>G | CA402325251 | SETBP1 | c.3818C>G (p.Thr1273Arg) c.3896C>G (p.Thr1299Arg) c.3341C>G (p.Thr1114Arg) | gnomAD v4 |
18 | g.44953158C>T | CA299699816 | SETBP1 | c.3818C>T (p.Thr1273Met) c.3896C>T (p.Thr1299Met) c.3341C>T (p.Thr1114Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.44953159G>A | CA8945992 | SETBP1 | c.3819G>A (p.Thr1273=) c.3897G>A (p.Thr1299=) c.3342G>A (p.Thr1114=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953159G>C | CA503983015 | SETBP1 | c.3819G>C (p.Thr1273=) c.3897G>C (p.Thr1299=) c.3342G>C (p.Thr1114=) | |
18 | g.44953159G= | CA2300141288 | SETBP1 | c.3819G= (p.Thr1273=) c.3897G= (p.Thr1299=) c.3342G= (p.Thr1114=) | |
18 | g.44953159G>T | CA503983016 | SETBP1 | c.3819G>T (p.Thr1273=) c.3897G>T (p.Thr1299=) c.3342G>T (p.Thr1114=) | |
18 | g.44953160A>C | CA503983018 | SETBP1 | c.3820A>C (p.Arg1274=) c.3898A>C (p.Arg1300=) c.3343A>C (p.Arg1115=) | |
18 | g.44953160A>G | CA402325252 | SETBP1 | c.3820A>G (p.Arg1274Gly) c.3898A>G (p.Arg1300Gly) c.3343A>G (p.Arg1115Gly) | |
18 | g.44953160A>T | CA402325253 | SETBP1 | c.3820A>T (p.Arg1274Ter) c.3898A>T (p.Arg1300Ter) c.3343A>T (p.Arg1115Ter) | |
18 | g.44953161G>A | CA402325254 | SETBP1 | c.3821G>A (p.Arg1274Lys) c.3899G>A (p.Arg1300Lys) c.3344G>A (p.Arg1115Lys) | |
18 | g.44953161G>C | CA402325255 | SETBP1 | c.3821G>C (p.Arg1274Thr) c.3899G>C (p.Arg1300Thr) c.3344G>C (p.Arg1115Thr) | gnomAD v4 |
18 | g.44953161G>T | CA402325256 | SETBP1 | c.3821G>T (p.Arg1274Ile) c.3899G>T (p.Arg1300Ile) c.3344G>T (p.Arg1115Ile) | |
18 | g.44953162A= | CA2300141289 | SETBP1 | c.3822A= (p.Arg1274=) c.3900A= (p.Arg1300=) c.3345A= (p.Arg1115=) | |
18 | g.44953162A>C | CA402325257 | SETBP1 | c.3822A>C (p.Arg1274Ser) c.3900A>C (p.Arg1300Ser) c.3345A>C (p.Arg1115Ser) | |
18 | g.44953162A>G | CA503983022 | SETBP1 | c.3822A>G (p.Arg1274=) c.3900A>G (p.Arg1300=) c.3345A>G (p.Arg1115=) | |
18 | g.44953162A>T | CA402325258 | SETBP1 | c.3822A>T (p.Arg1274Ser) c.3900A>T (p.Arg1300Ser) c.3345A>T (p.Arg1115Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.44953163T>A | CA402325260 | SETBP1 | c.3823T>A (p.Ser1275Thr) c.3901T>A (p.Ser1301Thr) c.3346T>A (p.Ser1116Thr) | |
18 | g.44953163T>C | CA402325261 | SETBP1 | c.3823T>C (p.Ser1275Pro) c.3901T>C (p.Ser1301Pro) c.3346T>C (p.Ser1116Pro) | |
18 | g.44953163T>G | CA402325259 | SETBP1 | c.3823T>G (p.Ser1275Ala) c.3901T>G (p.Ser1301Ala) c.3346T>G (p.Ser1116Ala) | |
18 | g.44953164C>A | CA402325263 | SETBP1 | c.3824C>A (p.Ser1275Ter) c.3902C>A (p.Ser1301Ter) c.3347C>A (p.Ser1116Ter) | |
18 | g.44953164C= | CA2300141290 | SETBP1 | c.3824C= (p.Ser1275=) c.3902C= (p.Ser1301=) c.3347C= (p.Ser1116=) | |
18 | g.44953164C>G | CA402325262 | SETBP1 | c.3824C>G (p.Ser1275Ter) c.3902C>G (p.Ser1301Ter) c.3347C>G (p.Ser1116Ter) | |
18 | g.44953164C>T | CA8945993 | SETBP1 | c.3824C>T (p.Ser1275Leu) c.3902C>T (p.Ser1301Leu) c.3347C>T (p.Ser1116Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953164_44953165delinsTG | CA2573155232 | SETBP1 | c.3824_3825delinsTG (p.Ser1275Leu) c.3902_3903delinsTG (p.Ser1301Leu) c.3347_3348delinsTG (p.Ser1116Leu) | ClinVar |
18 | g.44953164_44953165insG | CA2838883376 | SETBP1 | c.3824_3825insG (p.Glu1276ArgfsTer8) c.3902_3903insG (p.Glu1302ArgfsTer8) c.3347_3348insG (p.Glu1117ArgfsTer8) | |
18 | g.44953165A= | CA2300141291 | SETBP1 | c.3825A= (p.Ser1275=) c.3903A= (p.Ser1301=) c.3348A= (p.Ser1116=) | |
18 | g.44953165A>C | CA173396 | SETBP1 | c.3825A>C (p.Ser1275=) c.3903A>C (p.Ser1301=) c.3348A>C (p.Ser1116=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953165A>G | CA173398 | SETBP1 | c.3825A>G (p.Ser1275=) c.3903A>G (p.Ser1301=) c.3348A>G (p.Ser1116=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953165A>T | CA173399 | SETBP1 | c.3825A>T (p.Ser1275=) c.3903A>T (p.Ser1301=) c.3348A>T (p.Ser1116=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.44953166G>A | CA402325264 | SETBP1 | c.3826G>A (p.Glu1276Lys) c.3904G>A (p.Glu1302Lys) c.3349G>A (p.Glu1117Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953166G>C | CA402325265 | SETBP1 | c.3826G>C (p.Glu1276Gln) c.3904G>C (p.Glu1302Gln) c.3349G>C (p.Glu1117Gln) | |
18 | g.44953166G= | CA2300141292 | SETBP1 | c.3826G= (p.Glu1276=) c.3904G= (p.Glu1302=) c.3349G= (p.Glu1117=) | |
18 | g.44953166G>T | CA402325266 | SETBP1 | c.3826G>T (p.Glu1276Ter) c.3904G>T (p.Glu1302Ter) c.3349G>T (p.Glu1117Ter) | |
18 | g.44953167A>C | CA402325267 | SETBP1 | c.3827A>C (p.Glu1276Ala) c.3905A>C (p.Glu1302Ala) c.3350A>C (p.Glu1117Ala) | |
18 | g.44953167A>G | CA402325268 | SETBP1 | c.3827A>G (p.Glu1276Gly) c.3905A>G (p.Glu1302Gly) c.3350A>G (p.Glu1117Gly) | |
18 | g.44953167A>T | CA402325269 | SETBP1 | c.3827A>T (p.Glu1276Val) c.3905A>T (p.Glu1302Val) c.3350A>T (p.Glu1117Val) | |
18 | g.44953168G>A | CA503983027 | SETBP1 | c.3828G>A (p.Glu1276=) c.3906G>A (p.Glu1302=) c.3351G>A (p.Glu1117=) | |
18 | g.44953168G>C | CA402325270 | SETBP1 | c.3828G>C (p.Glu1276Asp) c.3906G>C (p.Glu1302Asp) c.3351G>C (p.Glu1117Asp) | |
18 | g.44953168G>T | CA402325271 | SETBP1 | c.3828G>T (p.Glu1276Asp) c.3906G>T (p.Glu1302Asp) c.3351G>T (p.Glu1117Asp) | |
18 | g.44953169A= | CA2300141293 | SETBP1 | c.3829A= (p.Asn1277=) c.3907A= (p.Asn1303=) c.3352A= (p.Asn1118=) | |
18 | g.44953169A>C | CA402325273 | SETBP1 | c.3829A>C (p.Asn1277His) c.3907A>C (p.Asn1303His) c.3352A>C (p.Asn1118His) | |
18 | g.44953169A>G | CA8945994 | SETBP1 | c.3829A>G (p.Asn1277Asp) c.3907A>G (p.Asn1303Asp) c.3352A>G (p.Asn1118Asp) | dbSNP ExAC gnomAD v2 |
18 | g.44953169A>T | CA402325272 | SETBP1 | c.3829A>T (p.Asn1277Tyr) c.3907A>T (p.Asn1303Tyr) c.3352A>T (p.Asn1118Tyr) | |
18 | g.44953170A>C | CA402325274 | SETBP1 | c.3830A>C (p.Asn1277Thr) c.3908A>C (p.Asn1303Thr) c.3353A>C (p.Asn1118Thr) | gnomAD v4 |
18 | g.44953170A>G | CA402325275 | SETBP1 | c.3830A>G (p.Asn1277Ser) c.3908A>G (p.Asn1303Ser) c.3353A>G (p.Asn1118Ser) | ClinVar |
18 | g.44953170A>T | CA402325276 | SETBP1 | c.3830A>T (p.Asn1277Ile) c.3908A>T (p.Asn1303Ile) c.3353A>T (p.Asn1118Ile) | |
18 | g.44953171C>A | CA402325277 | SETBP1 | c.3831C>A (p.Asn1277Lys) c.3909C>A (p.Asn1303Lys) c.3354C>A (p.Asn1118Lys) | |
18 | g.44953171C= | CA2300141294 | SETBP1 | c.3831C= (p.Asn1277=) c.3909C= (p.Asn1303=) c.3354C= (p.Asn1118=) | |
18 | g.44953171C>G | CA402325278 | SETBP1 | c.3831C>G (p.Asn1277Lys) c.3909C>G (p.Asn1303Lys) c.3354C>G (p.Asn1118Lys) | |
18 | g.44953171C>T | CA503983032 | SETBP1 | c.3831C>T (p.Asn1277=) c.3909C>T (p.Asn1303=) c.3354C>T (p.Asn1118=) | dbSNP gnomAD v4 |
18 | g.44953172C>A | CA402325279 | SETBP1 | c.3832C>A (p.Leu1278Met) c.3910C>A (p.Leu1304Met) c.3355C>A (p.Leu1119Met) | |
18 | g.44953172C= | CA2300141295 | SETBP1 | c.3832C= (p.Leu1278=) c.3910C= (p.Leu1304=) c.3355C= (p.Leu1119=) | |
18 | g.44953172C>G | CA8945995 | SETBP1 | c.3832C>G (p.Leu1278Val) c.3910C>G (p.Leu1304Val) c.3355C>G (p.Leu1119Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953172C>T | CA503983034 | SETBP1 | c.3832C>T (p.Leu1278=) c.3910C>T (p.Leu1304=) c.3355C>T (p.Leu1119=) | ClinVar gnomAD v4 |
18 | g.44953173T>A | CA402325280 | SETBP1 | c.3833T>A (p.Leu1278Gln) c.3911T>A (p.Leu1304Gln) c.3356T>A (p.Leu1119Gln) | |
18 | g.44953173T>C | CA402325281 | SETBP1 | c.3833T>C (p.Leu1278Pro) c.3911T>C (p.Leu1304Pro) c.3356T>C (p.Leu1119Pro) | gnomAD v4 |
18 | g.44953173T>G | CA402325282 | SETBP1 | c.3833T>G (p.Leu1278Arg) c.3911T>G (p.Leu1304Arg) c.3356T>G (p.Leu1119Arg) |