Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.88430589del | CA2634824274 | ZNF469 | c.3119del (p.Lys1040ArgfsTer13) | gnomAD v4 |
16 | g.88430589A= | CA2241073382 | ZNF469 | c.3119A= (p.Lys1040=) | |
16 | g.88430589A>C | CA151287 | ZNF469 | c.3119A>C (p.Lys1040Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88430589A>G | CA397077625 | ZNF469 | c.3119A>G (p.Lys1040Arg) | gnomAD v4 |
16 | g.88430589A>T | CA397077623 | ZNF469 | c.3119A>T (p.Lys1040Met) | |
16 | g.88430590G>A | CA497353924 | ZNF469 | c.3120G>A (p.Lys1040=) | ClinVar gnomAD v4 |
16 | g.88430590G>C | CA397077628 | ZNF469 | c.3120G>C (p.Lys1040Asn) | |
16 | g.88430590G>T | CA397077631 | ZNF469 | c.3120G>T (p.Lys1040Asn) | gnomAD v4 |
16 | g.88430591G>A | CA8224827 | ZNF469 | c.3121G>A (p.Ala1041Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88430591G>C | CA397077633 | ZNF469 | c.3121G>C (p.Ala1041Pro) | gnomAD v4 |
16 | g.88430591G= | CA2241073385 | ZNF469 | c.3121G= (p.Ala1041=) | |
16 | g.88430591G>T | CA286374496 | ZNF469 | c.3121G>T (p.Ala1041Ser) | dbSNP gnomAD v4 |
16 | g.88430592C>A | CA397077640 | ZNF469 | c.3122C>A (p.Ala1041Asp) | gnomAD v4 |
16 | g.88430592C>G | CA397077642 | ZNF469 | c.3122C>G (p.Ala1041Gly) | ClinVar gnomAD v4 |
16 | g.88430592C>T | CA397077646 | ZNF469 | c.3122C>T (p.Ala1041Val) | gnomAD v4 |
16 | g.88430593T>A | CA497353930 | ZNF469 | c.3123T>A (p.Ala1041=) | |
16 | g.88430593T>C | CA497353929 | ZNF469 | c.3123T>C (p.Ala1041=) | gnomAD v4 |
16 | g.88430593T>G | CA497353928 | ZNF469 | c.3123T>G (p.Ala1041=) | |
16 | g.88430594del | CA2634824275 | ZNF469 | c.3124del (p.Arg1042GlyfsTer11) | gnomAD v4 |
16 | g.88430594C>A | CA497353932 | ZNF469 | c.3124C>A (p.Arg1042=) | gnomAD v4 |
16 | g.88430594C= | CA2241073387 | ZNF469 | c.3124C= (p.Arg1042=) | |
16 | g.88430594C>G | CA397077652 | ZNF469 | c.3124C>G (p.Arg1042Gly) | ClinVar gnomAD v4 |
16 | g.88430594C>T | CA397077656 | ZNF469 | c.3124C>T (p.Arg1042Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.88430594_88430595insTTGCCCCA | CA2634824276 | ZNF469 | c.3124_3125insTTGCCCCA (p.Arg1042LeufsTer14) | gnomAD v4 |
16 | g.88430595G>A | CA8224828 | ZNF469 | c.3125G>A (p.Arg1042Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88430595G>C | CA397077676 | ZNF469 | c.3125G>C (p.Arg1042Pro) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88430595G= | CA2241073390 | ZNF469 | c.3125G= (p.Arg1042=) | |
16 | g.88430595G>T | CA397077678 | ZNF469 | c.3125G>T (p.Arg1042Leu) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88430598del | CA2634824277 | ZNF469 | c.3128del (p.Gly1043AlafsTer10) | gnomAD v4 |
16 | g.88430604_88430673del | CA2634824278 | ZNF469 | c.3134_3203del (p.Ala1045GlyfsTer?) c.3134_3179+24del | gnomAD v4 |
16 | g.88430596G>A | CA497353935 | ZNF469 | c.3126G>A (p.Arg1042=) | gnomAD v4 |
16 | g.88430596G>C | CA497353937 | ZNF469 | c.3126G>C (p.Arg1042=) | |
16 | g.88430596G>T | CA497353936 | ZNF469 | c.3126G>T (p.Arg1042=) | gnomAD v4 |
16 | g.88430597G>A | CA397077682 | ZNF469 | c.3127G>A (p.Gly1043Ser) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88430597G>C | CA397077688 | ZNF469 | c.3127G>C (p.Gly1043Arg) | |
16 | g.88430597G= | CA2241073394 | ZNF469 | c.3127G= (p.Gly1043=) | |
16 | g.88430597G>T | CA397077685 | ZNF469 | c.3127G>T (p.Gly1043Cys) | gnomAD v4 |
16 | g.88430598G>A | CA397077696 | ZNF469 | c.3128G>A (p.Gly1043Asp) | gnomAD v4 |
16 | g.88430598G>C | CA397077702 | ZNF469 | c.3128G>C (p.Gly1043Ala) | |
16 | g.88430598G= | CA2241073396 | ZNF469 | c.3128G= (p.Gly1043=) | |
16 | g.88430598G>T | CA286374505 | ZNF469 | c.3128G>T (p.Gly1043Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88430599C>A | CA497353940 | ZNF469 | c.3129C>A (p.Gly1043=) | gnomAD v4 |
16 | g.88430599C= | CA2241073397 | ZNF469 | c.3129C= (p.Gly1043=) | |
16 | g.88430599C>G | CA497353941 | ZNF469 | c.3129C>G (p.Gly1043=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88430599C>T | CA497353943 | ZNF469 | c.3129C>T (p.Gly1043=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88430600G>A | CA397077714 | ZNF469 | c.3130G>A (p.Gly1044Ser) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88430600G>C | CA397077718 | ZNF469 | c.3130G>C (p.Gly1044Arg) | gnomAD v4 |
16 | g.88430600G= | CA2241073399 | ZNF469 | c.3130G= (p.Gly1044=) | |
16 | g.88430600G>T | CA397077723 | ZNF469 | c.3130G>T (p.Gly1044Cys) | gnomAD v4 |
16 | g.88430601G>A | CA397077727 | ZNF469 | c.3131G>A (p.Gly1044Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.88430601G>C | CA397077728 | ZNF469 | c.3131G>C (p.Gly1044Ala) | |
16 | g.88430601G= | CA2241073401 | ZNF469 | c.3131G= (p.Gly1044=) | |
16 | g.88430601G>T | CA397077729 | ZNF469 | c.3131G>T (p.Gly1044Val) | gnomAD v4 |
16 | g.88430602C>A | CA497353945 | ZNF469 | c.3132C>A (p.Gly1044=) | dbSNP gnomAD v4 |
16 | g.88430602C= | CA2241073403 | ZNF469 | c.3132C= (p.Gly1044=) | |
16 | g.88430602C>G | CA497353947 | ZNF469 | c.3132C>G (p.Gly1044=) | |
16 | g.88430602C>T | CA497353949 | ZNF469 | c.3132C>T (p.Gly1044=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.88430603G>A | CA397077739 | ZNF469 | c.3133G>A (p.Ala1045Thr) | gnomAD v4 |
16 | g.88430603G>C | CA397077736 | ZNF469 | c.3133G>C (p.Ala1045Pro) | |
16 | g.88430603G= | CA2241073405 | ZNF469 | c.3133G= (p.Ala1045=) | |
16 | g.88430603G>T | CA397077734 | ZNF469 | c.3133G>T (p.Ala1045Ser) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88430603_88430604insGG | CA2634824279 | ZNF469 | c.3133_3134insGG (p.Ala1045GlyfsTer9) | gnomAD v4 |
16 | g.88430604C>A | CA397077757 | ZNF469 | c.3134C>A (p.Ala1045Asp) | |
16 | g.88430604C= | CA2241073407 | ZNF469 | c.3134C= (p.Ala1045=) | |
16 | g.88430604C>G | CA397077761 | ZNF469 | c.3134C>G (p.Ala1045Gly) | gnomAD v4 |
16 | g.88430604C>T | CA397077764 | ZNF469 | c.3134C>T (p.Ala1045Val) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88430605C>A | CA497353951 | ZNF469 | c.3135C>A (p.Ala1045=) | gnomAD v4 |
16 | g.88430605C= | CA2241073409 | ZNF469 | c.3135C= (p.Ala1045=) | |
16 | g.88430605C>G | CA497353952 | ZNF469 | c.3135C>G (p.Ala1045=) | ClinVar |
16 | g.88430605C>T | CA497353954 | ZNF469 | c.3135C>T (p.Ala1045=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88430605_88430606del | CA2634824281 | ZNF469 | c.3135_3136del (p.Trp1046GlyfsTer?) | gnomAD v4 |
16 | g.88430612_88430669del | CA2634824280 | ZNF469 | c.3142_3199del (p.Lys1048GlyfsTer?) c.3142_3179+20del | gnomAD v4 |
16 | g.88430606T>A | CA397077765 | ZNF469 | c.3136T>A (p.Trp1046Arg) | |
16 | g.88430606T>C | CA8224829 | ZNF469 | c.3136T>C (p.Trp1046Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88430606T>G | CA397077767 | ZNF469 | c.3136T>G (p.Trp1046Gly) | gnomAD v4 |
16 | g.88430606T= | CA2241073411 | ZNF469 | c.3136T= (p.Trp1046=) | |
16 | g.88430607G>A | CA397077773 | ZNF469 | c.3137G>A (p.Trp1046Ter) | dbSNP gnomAD v4 |
16 | g.88430607G>C | CA397077776 | ZNF469 | c.3137G>C (p.Trp1046Ser) | ClinVar dbSNP gnomAD v4 |
16 | g.88430607G= | CA2241073414 | ZNF469 | c.3137G= (p.Trp1046=) | |
16 | g.88430607G>T | CA397077777 | ZNF469 | c.3137G>T (p.Trp1046Leu) | gnomAD v4 |
16 | g.88430610del | CA624447582 | ZNF469 | c.3140del (p.Gly1047AlafsTer6) | gnomAD v2 gnomAD v4 |
16 | g.88430608G>A | CA397077779 | ZNF469 | c.3138G>A (p.Trp1046Ter) | gnomAD v4 |
16 | g.88430608G>C | CA397077786 | ZNF469 | c.3138G>C (p.Trp1046Cys) | |
16 | g.88430608G>T | CA397077787 | ZNF469 | c.3138G>T (p.Trp1046Cys) | gnomAD v4 |
16 | g.88430609G>A | CA286374513 | ZNF469 | c.3139G>A (p.Gly1047Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88430609G>C | CA397077807 | ZNF469 | c.3139G>C (p.Gly1047Arg) | |
16 | g.88430609G= | CA2241073415 | ZNF469 | c.3139G= (p.Gly1047=) | |
16 | g.88430609G>T | CA397077809 | ZNF469 | c.3139G>T (p.Gly1047Cys) | |
16 | g.88430610G>A | CA397077821 | ZNF469 | c.3140G>A (p.Gly1047Asp) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88430610G>C | CA397077824 | ZNF469 | c.3140G>C (p.Gly1047Ala) | gnomAD v4 |
16 | g.88430610G= | CA2241073417 | ZNF469 | c.3140G= (p.Gly1047=) | |
16 | g.88430610G>T | CA397077829 | ZNF469 | c.3140G>T (p.Gly1047Val) | gnomAD v4 |
16 | g.88430611C>A | CA497353961 | ZNF469 | c.3141C>A (p.Gly1047=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88430611C= | CA2241073419 | ZNF469 | c.3141C= (p.Gly1047=) | |
16 | g.88430611C>G | CA497353963 | ZNF469 | c.3141C>G (p.Gly1047=) | gnomAD v4 |
16 | g.88430611C>T | CA497353962 | ZNF469 | c.3141C>T (p.Gly1047=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.88430612A>C | CA397077835 | ZNF469 | c.3142A>C (p.Lys1048Gln) | |
16 | g.88430612A>G | CA397077838 | ZNF469 | c.3142A>G (p.Lys1048Glu) | gnomAD v4 |
16 | g.88430612A>T | CA397077850 | ZNF469 | c.3142A>T (p.Lys1048Ter) | |
16 | g.88430613A= | CA2241073423 | ZNF469 | c.3143A= (p.Lys1048=) | |
16 | g.88430613A>C | CA397077870 | ZNF469 | c.3143A>C (p.Lys1048Thr) | |
16 | g.88430613A>G | CA397077876 | ZNF469 | c.3143A>G (p.Lys1048Arg) | gnomAD v4 |
16 | g.88430613A>T | CA397077879 | ZNF469 | c.3143A>T (p.Lys1048Met) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88430614G>A | CA497353965 | ZNF469 | c.3144G>A (p.Lys1048=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.88430614G>C | CA397077890 | ZNF469 | c.3144G>C (p.Lys1048Asn) | gnomAD v4 |
16 | g.88430614G= | CA2241073424 | ZNF469 | c.3144G= (p.Lys1048=) | |
16 | g.88430614G>T | CA397077894 | ZNF469 | c.3144G>T (p.Lys1048Asn) | gnomAD v4 |
16 | g.88430615G>A | CA397077920 | ZNF469 | c.3145G>A (p.Glu1049Lys) | |
16 | g.88430615G>C | CA397077917 | ZNF469 | c.3145G>C (p.Glu1049Gln) | |
16 | g.88430615G>T | CA397077907 | ZNF469 | c.3145G>T (p.Glu1049Ter) | |
16 | g.88430616A>C | CA397077928 | ZNF469 | c.3146A>C (p.Glu1049Ala) | |
16 | g.88430616A>G | CA397077939 | ZNF469 | c.3146A>G (p.Glu1049Gly) | gnomAD v4 |
16 | g.88430616A>T | CA397077933 | ZNF469 | c.3146A>T (p.Glu1049Val) | |
16 | g.88430617G>A | CA497353969 | ZNF469 | c.3147G>A (p.Glu1049=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88430617G>C | CA397077942 | ZNF469 | c.3147G>C (p.Glu1049Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88430617G= | CA2241073425 | ZNF469 | c.3147G= (p.Glu1049=) | |
16 | g.88430617G>T | CA397077970 | ZNF469 | c.3147G>T (p.Glu1049Asp) | gnomAD v4 |
16 | g.88430618C>A | CA397077985 | ZNF469 | c.3148C>A (p.Leu1050Ile) | gnomAD v4 |
16 | g.88430618C= | CA2241073426 | ZNF469 | c.3148C= (p.Leu1050=) | |
16 | g.88430618C>G | CA397077988 | ZNF469 | c.3148C>G (p.Leu1050Val) | gnomAD v4 |
16 | g.88430618C>T | CA397077989 | ZNF469 | c.3148C>T (p.Leu1050Phe) | dbSNP gnomAD v4 |
16 | g.88430619T>A | CA397077993 | ZNF469 | c.3149T>A (p.Leu1050His) | |
16 | g.88430619T>C | CA397077996 | ZNF469 | c.3149T>C (p.Leu1050Pro) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88430619T>G | CA397078003 | ZNF469 | c.3149T>G (p.Leu1050Arg) | |
16 | g.88430619T= | CA2241073427 | ZNF469 | c.3149T= (p.Leu1050=) | |
16 | g.88430620C>A | CA497353970 | ZNF469 | c.3150C>A (p.Leu1050=) | gnomAD v4 |
16 | g.88430620C= | CA2241073430 | ZNF469 | c.3150C= (p.Leu1050=) | |
16 | g.88430620C>G | CA497353971 | ZNF469 | c.3150C>G (p.Leu1050=) | ClinVar |
16 | g.88430620C>T | CA16607127 | ZNF469 | c.3150C>T (p.Leu1050=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88430621A= | CA2241073431 | ZNF469 | c.3151A= (p.Ile1051=) | |
16 | g.88430621A>C | CA397078007 | ZNF469 | c.3151A>C (p.Ile1051Leu) | |
16 | g.88430621A>G | CA397078008 | ZNF469 | c.3151A>G (p.Ile1051Val) | gnomAD v4 |
16 | g.88430621A>T | CA397078011 | ZNF469 | c.3151A>T (p.Ile1051Phe) | dbSNP |
16 | g.88430622T>A | CA397078015 | ZNF469 | c.3152T>A (p.Ile1051Asn) | |
16 | g.88430622T>C | CA397078021 | ZNF469 | c.3152T>C (p.Ile1051Thr) | |
16 | g.88430622T>G | CA397078026 | ZNF469 | c.3152T>G (p.Ile1051Ser) | |
16 | g.88430623del | CA2634824284 | ZNF469 | c.3153del (p.Leu1052Ter) | gnomAD v4 |
16 | g.88430623T>A | CA497353973 | ZNF469 | c.3153T>A (p.Ile1051=) | ClinVar dbSNP gnomAD v4 |
16 | g.88430623T>C | CA200376 | ZNF469 | c.3153T>C (p.Ile1051=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88430623T>G | CA397078055 | ZNF469 | c.3153T>G (p.Ile1051Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88430623T= | CA2241073432 | ZNF469 | c.3153T= (p.Ile1051=) | |
16 | g.88430624C>A | CA397078061 | ZNF469 | c.3154C>A (p.Leu1052Met) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88430624C= | CA2241073434 | ZNF469 | c.3154C= (p.Leu1052=) | |
16 | g.88430624C>G | CA397078071 | ZNF469 | c.3154C>G (p.Leu1052Val) | |
16 | g.88430624C>T | CA497353974 | ZNF469 | c.3154C>T (p.Leu1052=) | gnomAD v4 |
16 | g.88430625T>A | CA397078074 | ZNF469 | c.3155T>A (p.Leu1052Gln) | |
16 | g.88430625T>C | CA397078075 | ZNF469 | c.3155T>C (p.Leu1052Pro) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88430625T>G | CA397078076 | ZNF469 | c.3155T>G (p.Leu1052Arg) | |
16 | g.88430625T= | CA2241073435 | ZNF469 | c.3155T= (p.Leu1052=) | |
16 | g.88430626G>A | CA497353978 | ZNF469 | c.3156G>A (p.Leu1052=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88430626G>C | CA497353975 | ZNF469 | c.3156G>C (p.Leu1052=) | |
16 | g.88430626G= | CA2241073436 | ZNF469 | c.3156G= (p.Leu1052=) | |
16 | g.88430626G>T | CA497353977 | ZNF469 | c.3156G>T (p.Leu1052=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88430627A>C | CA397078079 | ZNF469 | c.3157A>C (p.Lys1053Gln) | |
16 | g.88430627A>G | CA397078098 | ZNF469 | c.3157A>G (p.Lys1053Glu) | gnomAD v4 |
16 | g.88430627A>T | CA397078100 | ZNF469 | c.3157A>T (p.Lys1053Ter) | |
16 | g.88430628A>C | CA397078111 | ZNF469 | c.3158A>C (p.Lys1053Thr) | |
16 | g.88430628A>G | CA397078118 | ZNF469 | c.3158A>G (p.Lys1053Arg) | gnomAD v4 |
16 | g.88430628A>T | CA397078123 | ZNF469 | c.3158A>T (p.Lys1053Met) | |
16 | g.88430629G>A | CA497353980 | ZNF469 | c.3159G>A (p.Lys1053=) | ClinVar dbSNP gnomAD v4 |
16 | g.88430629G>C | CA397078135 | ZNF469 | c.3159G>C (p.Lys1053Asn) | |
16 | g.88430629G= | CA2241073437 | ZNF469 | c.3159G= (p.Lys1053=) | |
16 | g.88430629G>T | CA397078134 | ZNF469 | c.3159G>T (p.Lys1053Asn) | gnomAD v4 |
16 | g.88430630A>C | CA397078137 | ZNF469 | c.3160A>C (p.Ile1054Leu) | |
16 | g.88430630A>G | CA397078140 | ZNF469 | c.3160A>G (p.Ile1054Val) | gnomAD v4 |
16 | g.88430630A>T | CA397078146 | ZNF469 | c.3160A>T (p.Ile1054Phe) | |
16 | g.88430631T>A | CA397078153 | ZNF469 | c.3161T>A (p.Ile1054Asn) | gnomAD v4 |
16 | g.88430631T>C | CA397078161 | ZNF469 | c.3161T>C (p.Ile1054Thr) | gnomAD v4 |
16 | g.88430631T>G | CA397078166 | ZNF469 | c.3161T>G (p.Ile1054Ser) | |
16 | g.88430632C>A | CA497353984 | ZNF469 | c.3162C>A (p.Ile1054=) | ClinVar gnomAD v4 |
16 | g.88430632C= | CA2241073438 | ZNF469 | c.3162C= (p.Ile1054=) | |
16 | g.88430632C>G | CA397078171 | ZNF469 | c.3162C>G (p.Ile1054Met) | gnomAD v4 |
16 | g.88430632C>T | CA497353985 | ZNF469 | c.3162C>T (p.Ile1054=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88430633G>A | CA286374519 | ZNF469 | c.3163G>A (p.Val1055Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.88430633G>C | CA397078179 | ZNF469 | c.3163G>C (p.Val1055Leu) | |
16 | g.88430633G= | CA2241073439 | ZNF469 | c.3163G= (p.Val1055=) | |
16 | g.88430633G>T | CA397078181 | ZNF469 | c.3163G>T (p.Val1055Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88430634T>A | CA397078211 | ZNF469 | c.3164T>A (p.Val1055Glu) | |
16 | g.88430634T>C | CA397078216 | ZNF469 | c.3164T>C (p.Val1055Ala) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88430634T>G | CA397078220 | ZNF469 | c.3164T>G (p.Val1055Gly) | ClinVar gnomAD v4 |
16 | g.88430634T= | CA2241073440 | ZNF469 | c.3164T= (p.Val1055=) | |
16 | g.88430635G>A | CA497353986 | ZNF469 | c.3165G>A (p.Val1055=) | gnomAD v4 |
16 | g.88430635G>C | CA497353987 | ZNF469 | c.3165G>C (p.Val1055=) | |
16 | g.88430635G>T | CA497353989 | ZNF469 | c.3165G>T (p.Val1055=) | gnomAD v4 |
16 | g.88430636C>A | CA397078242 | ZNF469 | c.3166C>A (p.Gln1056Lys) | |
16 | g.88430636C= | CA2241073442 | ZNF469 | c.3166C= (p.Gln1056=) | |
16 | g.88430636C>G | CA397078229 | ZNF469 | c.3166C>G (p.Gln1056Glu) | gnomAD v4 |
16 | g.88430636C>T | CA397078236 | ZNF469 | c.3166C>T (p.Gln1056Ter) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88430637A>C | CA397078284 | ZNF469 | c.3167A>C (p.Gln1056Pro) | |
16 | g.88430637A>G | CA397078286 | ZNF469 | c.3167A>G (p.Gln1056Arg) | gnomAD v4 |
16 | g.88430637A>T | CA397078309 | ZNF469 | c.3167A>T (p.Gln1056Leu) | |
16 | g.88430638G>A | CA497353992 | ZNF469 | c.3168G>A (p.Gln1056=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88430638G>C | CA397078311 | ZNF469 | c.3168G>C (p.Gln1056His) | |
16 | g.88430638G= | CA2241073443 | ZNF469 | c.3168G= (p.Gln1056=) | |
16 | g.88430638G>T | CA397078312 | ZNF469 | c.3168G>T (p.Gln1056His) | gnomAD v4 |
16 | g.88430639C>A | CA8224831 | ZNF469 | c.3169C>A (p.Gln1057Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.88430639C= | CA2241073444 | ZNF469 | c.3169C= (p.Gln1057=) | |
16 | g.88430639C>G | CA397078321 | ZNF469 | c.3169C>G (p.Gln1057Glu) | |
16 | g.88430639C>T | CA397078324 | ZNF469 | c.3169C>T (p.Gln1057Ter) | gnomAD v4 |
16 | g.88430639_88430642delinsCAGA | CA2241073445 | ZNF469 | c.3169_3172delinsCAGA (p.Gln1057=) | |
16 | g.88430640A= | CA2241073447 | ZNF469 | c.3170A= (p.Gln1057=) | |
16 | g.88430640A>C | CA397078331 | ZNF469 | c.3170A>C (p.Gln1057Pro) | gnomAD v4 |
16 | g.88430640A>G | CA397078335 | ZNF469 | c.3170A>G (p.Gln1057Arg) | dbSNP gnomAD v4 |
16 | g.88430640A>T | CA397078339 | ZNF469 | c.3170A>T (p.Gln1057Leu) | gnomAD v4 |
16 | g.88430644_88430646del | CA8224830 | ZNF469 | c.3174_3176del (p.Lys1058del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88430641G>A | CA497353994 | ZNF469 | c.3171G>A (p.Gln1057=) | |
16 | g.88430641G>C | CA397078343 | ZNF469 | c.3171G>C (p.Gln1057His) | gnomAD v4 |
16 | g.88430641G= | CA2241073448 | ZNF469 | c.3171G= (p.Gln1057=) | |
16 | g.88430641G>T | CA397078342 | ZNF469 | c.3171G>T (p.Gln1057His) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88430642A= | CA2241073449 | ZNF469 | c.3172A= (p.Lys1058=) | |
16 | g.88430642A>C | CA286374531 | ZNF469 | c.3172A>C (p.Lys1058Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88430642A>G | CA397078347 | ZNF469 | c.3172A>G (p.Lys1058Glu) | gnomAD v4 |
16 | g.88430642A>T | CA397078345 | ZNF469 | c.3172A>T (p.Lys1058Ter) | |
16 | g.88430643A= | CA2241073450 | ZNF469 | c.3173A= (p.Lys1058=) | |
16 | g.88430643A>C | CA397078353 | ZNF469 | c.3173A>C (p.Lys1058Thr) | |
16 | g.88430643A>G | CA397078359 | ZNF469 | c.3173A>G (p.Lys1058Arg) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88430643A>T | CA397078360 | ZNF469 | c.3173A>T (p.Lys1058Met) | gnomAD v4 |
16 | g.88430644G>A | CA497353997 | ZNF469 | c.3174G>A (p.Lys1058=) | ClinVar gnomAD v4 |
16 | g.88430644G>C | CA397078366 | ZNF469 | c.3174G>C (p.Lys1058Asn) | |
16 | g.88430644G>T | CA397078368 | ZNF469 | c.3174G>T (p.Lys1058Asn) | gnomAD v4 |
16 | g.88430645A= | CA2241073452 | ZNF469 | c.3175A= (p.Asn1059=) | |
16 | g.88430645A>C | CA397078373 | ZNF469 | c.3175A>C (p.Asn1059His) | |
16 | g.88430645A>G | CA397078385 | ZNF469 | c.3175A>G (p.Asn1059Asp) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88430645A>T | CA397078406 | ZNF469 | c.3175A>T (p.Asn1059Tyr) | |
16 | g.88430646A>C | CA397078414 | ZNF469 | c.3176A>C (p.Asn1059Thr) | |
16 | g.88430646A>G | CA397078418 | ZNF469 | c.3176A>G (p.Asn1059Ser) | gnomAD v4 COSMIC |
16 | g.88430646A>T | CA397078419 | ZNF469 | c.3176A>T (p.Asn1059Ile) | |
16 | g.88430647C>A | CA397078420 | ZNF469 | c.3177C>A (p.Asn1059Lys) | gnomAD v4 |
16 | g.88430647C>G | CA397078421 | ZNF469 | c.3177C>G (p.Asn1059Lys) | ClinVar gnomAD v4 |
16 | g.88430647C>T | CA497353999 | ZNF469 | c.3177C>T (p.Asn1059=) | gnomAD v4 |
16 | g.88430648A>C | CA497354000 | ZNF469 | c.3178A>C (p.Arg1060=) | |
16 | g.88430648A>G | CA397078427 | ZNF469 | c.3178A>G (p.Arg1060Gly) | gnomAD v4 |
16 | g.88430648A>T | CA397078446 | ZNF469 | c.3178A>T (p.Arg1060Trp) | gnomAD v4 |
16 | g.88430648_88430657delinsAGGCGCCACC | CA2241073453 | ZNF469 | c.3178_3187delinsAGGCGCCACC (p.Arg1060=) c.3178_3179+8delinsAGGCGCCACC | |
16 | g.88430649G>A | CA397078449 | ZNF469 | c.3179G>A (p.Arg1060Lys) | gnomAD v4 |
16 | g.88430649G>C | CA397078451 | ZNF469 | c.3179G>C (p.Arg1060Thr) | gnomAD v4 |
16 | g.88430649G= | CA2241073455 | ZNF469 | c.3179G= (p.Arg1060=) | |
16 | g.88430649G>T | CA397078454 | ZNF469 | c.3179G>T (p.Arg1060Met) | ClinVar dbSNP gnomAD v4 |
16 | g.88430653_88430661dup | CA2634824288 | ZNF469 | c.3183_3191dup (p.Arg1064_Leu1065insHisArgArg) c.3179+4_3179+12dup | gnomAD v4 |
16 | g.88430653_88430661del | CA624447583 | ZNF469 | c.3183_3191del (p.His1062_Arg1064del) c.3179+4_3179+12del | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88430650G>A | CA397078455 | ZNF469 | c.3180G>A (p.Arg1060=) c.3179+1G>A (n.3179+1G>A) | gnomAD v4 |
16 | g.88430650G>C | CA397078456 | ZNF469 | c.3180G>C (p.Arg1060Ser) c.3179+1G>C (n.3179+1G>C) | |
16 | g.88430650G>T | CA397078457 | ZNF469 | c.3180G>T (p.Arg1060Ser) c.3179+1G>T (n.3179+1G>T) | |
16 | g.88430651C>A | CA397078460 | ZNF469 | c.3181C>A (p.Arg1061Ser) c.3179+2C>A (n.3179+2C>A) | gnomAD v4 |
16 | g.88430651C= | CA2241073456 | ZNF469 | c.3181C= (p.Arg1061=) c.3179+2C= (n.3179+2C=) | |
16 | g.88430651C>G | CA397078463 | ZNF469 | c.3181C>G (p.Arg1061Gly) c.3179+2C>G (n.3179+2C>G) | |
16 | g.88430651C>T | CA397078467 | ZNF469 | c.3181C>T (p.Arg1061Cys) c.3179+2C>T (n.3179+2C>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88430652G>A | CA397078470 | ZNF469 | c.3182G>A (p.Arg1061His) c.3179+3G>A (n.3179+3G>A) | gnomAD v4 |
16 | g.88430652G>C | CA397078471 | ZNF469 | c.3182G>C (p.Arg1061Pro) c.3179+3G>C (n.3179+3G>C) | |
16 | g.88430652G>T | CA397078474 | ZNF469 | c.3182G>T (p.Arg1061Leu) c.3179+3G>T (n.3179+3G>T) | |
16 | g.88430653C>A | CA2241073459 | ZNF469 | c.3183C>A (p.Arg1061=) c.3179+4C>A (n.3179+4C>A) | ClinVar dbSNP gnomAD v4 |
16 | g.88430653C= | CA2241073458 | ZNF469 | c.3183C= (p.Arg1061=) c.3179+4C= (n.3179+4C=) | |
16 | g.88430653C>T | CA8224832 | ZNF469 | c.3183C>T (p.Arg1061=) c.3179+4C>T (n.3179+4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88430654C>A | CA397078486 | ZNF469 | c.3184C>A (p.His1062Asn) c.3179+5C>A (n.3179+5C>A) | |
16 | g.88430654C= | CA2241073460 | ZNF469 | c.3184C= (p.His1062=) c.3179+5C= (n.3179+5C=) | |
16 | g.88430654C>G | CA397078483 | ZNF469 | c.3184C>G (p.His1062Asp) c.3179+5C>G (n.3179+5C>G) | |
16 | g.88430654C>T | CA397078484 | ZNF469 | c.3184C>T (p.His1062Tyr) c.3179+5C>T (n.3179+5C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88430655A>C | CA397078490 | ZNF469 | c.3185A>C (p.His1062Pro) c.3179+6A>C (n.3179+6A>C) | |
16 | g.88430655A>G | CA397078493 | ZNF469 | c.3185A>G (p.His1062Arg) c.3179+6A>G (n.3179+6A>G) | gnomAD v4 |
16 | g.88430655A>T | CA397078495 | ZNF469 | c.3185A>T (p.His1062Leu) c.3179+6A>T (n.3179+6A>T) | |
16 | g.88430656C>A | CA397078498 | ZNF469 | c.3186C>A (p.His1062Gln) c.3179+7C>A (n.3179+7C>A) | gnomAD v4 |
16 | g.88430656C= | CA2241073462 | ZNF469 | c.3186C= (p.His1062=) c.3179+7C= (n.3179+7C=) | |
16 | g.88430656C>G | CA397078501 | ZNF469 | c.3186C>G (p.His1062Gln) c.3179+7C>G (n.3179+7C>G) | ClinVar gnomAD v4 |
16 | g.88430656C>T | CA624447584 | ZNF469 | c.3186C>T (p.His1062=) c.3179+7C>T (n.3179+7C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.88430657C>A | CA2241073465 | ZNF469 | c.3187C>A (p.Arg1063=) c.3179+8C>A (n.3179+8C>A) | ClinVar dbSNP gnomAD v4 |
16 | g.88430657C= | CA2241073464 | ZNF469 | c.3187C= (p.Arg1063=) c.3179+8C= (n.3179+8C=) | |
16 | g.88430657C>G | CA397078504 | ZNF469 | c.3187C>G (p.Arg1063Gly) c.3179+8C>G (n.3179+8C>G) | |
16 | g.88430657C>T | CA397078506 | ZNF469 | c.3187C>T (p.Arg1063Trp) c.3179+8C>T (n.3179+8C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.88430663_88430674dup | CA2634824290 | ZNF469 | c.3193_3204dup (p.Arg1068_Ala1069insLeuGlyArgArg) c.3179+14_3179+25dup (n.3179+14_3179+25dup) | gnomAD v4 |
16 | g.88430658G>A | CA286374538 | ZNF469 | c.3188G>A (p.Arg1063Gln) c.3179+9G>A (n.3179+9G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88430658G>C | CA286374539 | ZNF469 | c.3188G>C (p.Arg1063Pro) c.3179+9G>C (n.3179+9G>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88430658G= | CA2241073467 | ZNF469 | c.3188G= (p.Arg1063=) c.3179+9G= (n.3179+9G=) | |
16 | g.88430658G>T | CA397078513 | ZNF469 | c.3188G>T (p.Arg1063Leu) c.3179+9G>T (n.3179+9G>T) | gnomAD v4 |
16 | g.88430659G>A | CA286374543 | ZNF469 | c.3189G>A (p.Arg1063=) c.3179+10G>A (n.3179+10G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.88430659G= | CA2241073469 | ZNF469 | c.3189G= (p.Arg1063=) c.3179+10G= (n.3179+10G=) | |
16 | g.88430659G>T | CA2634824291 | ZNF469 | c.3189G>T (p.Arg1063=) c.3179+10G>T (n.3179+10G>T) | gnomAD v4 |
16 | g.88430660C>A | CA2634824292 | ZNF469 | c.3190C>A (p.Arg1064=) c.3179+11C>A (n.3179+11C>A) | ClinVar gnomAD v4 |
16 | g.88430660C= | CA2241073471 | ZNF469 | c.3190C= (p.Arg1064=) c.3179+11C= (n.3179+11C=) | |
16 | g.88430660C>G | CA397078521 | ZNF469 | c.3190C>G (p.Arg1064Gly) c.3179+11C>G (n.3179+11C>G) | |
16 | g.88430660C>T | CA286374548 | ZNF469 | c.3190C>T (p.Arg1064Trp) c.3179+11C>T (n.3179+11C>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88430661G>A | CA397078537 | ZNF469 | c.3191G>A (p.Arg1064Gln) c.3179+12G>A (n.3179+12G>A) | dbSNP gnomAD v4 |
16 | g.88430661G>C | CA397078544 | ZNF469 | c.3191G>C (p.Arg1064Pro) c.3179+12G>C (n.3179+12G>C) | ClinVar |
16 | g.88430661G= | CA2241073473 | ZNF469 | c.3191G= (p.Arg1064=) c.3179+12G= (n.3179+12G=) | |
16 | g.88430661G>T | CA397078541 | ZNF469 | c.3191G>T (p.Arg1064Leu) c.3179+12G>T (n.3179+12G>T) | |
16 | g.88430662G>A | CA2576089646 | ZNF469 | c.3192G>A (p.Arg1064=) c.3179+13G>A (n.3179+13G>A) | gnomAD v4 |
16 | g.88430662G>T | CA2634824293 | ZNF469 | c.3192G>T (p.Arg1064=) c.3179+13G>T (n.3179+13G>T) | gnomAD v4 |
16 | g.88430663C>A | CA397078548 | ZNF469 | c.3193C>A (p.Leu1065Met) c.3179+14C>A (n.3179+14C>A) | |
16 | g.88430663C= | CA2241073475 | ZNF469 | c.3193C= (p.Leu1065=) c.3179+14C= (n.3179+14C=) | |
16 | g.88430663C>G | CA397078551 | ZNF469 | c.3193C>G (p.Leu1065Val) c.3179+14C>G (n.3179+14C>G) | dbSNP |
16 | g.88430663C>T | CA286374556 | ZNF469 | c.3193C>T (p.Leu1065=) c.3179+14C>T (n.3179+14C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88430664T>A | CA397078555 | ZNF469 | c.3194T>A (p.Leu1065Gln) c.3179+15T>A (n.3179+15T>A) | gnomAD v4 |
16 | g.88430664T>C | CA397078557 | ZNF469 | c.3194T>C (p.Leu1065Pro) c.3179+15T>C (n.3179+15T>C) | gnomAD v4 |
16 | g.88430664T>G | CA397078561 | ZNF469 | c.3194T>G (p.Leu1065Arg) c.3179+15T>G (n.3179+15T>G) | |
16 | g.88430665G>A | CA8224833 | ZNF469 | c.3195G>A (p.Leu1065=) c.3179+16G>A (n.3179+16G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.88430665G= | CA2241073477 | ZNF469 | c.3195G= (p.Leu1065=) c.3179+16G= (n.3179+16G=) | |
16 | g.88430668del | CA2634824295 | ZNF469 | c.3198del (p.Arg1067GlyfsTer?) c.3179+19del (n.3179+19del) | gnomAD v4 |
16 | g.88430666G>A | CA397078563 | ZNF469 | c.3196G>A (p.Gly1066Arg) c.3179+17G>A (n.3179+17G>A) | ClinVar |
16 | g.88430666G>C | CA397078564 | ZNF469 | c.3196G>C (p.Gly1066Arg) c.3179+17G>C (n.3179+17G>C) | gnomAD v4 |
16 | g.88430666G>T | CA397078566 | ZNF469 | c.3196G>T (p.Gly1066Trp) c.3179+17G>T (n.3179+17G>T) | gnomAD v4 |
16 | g.88430667G>A | CA397078567 | ZNF469 | c.3197G>A (p.Gly1066Glu) c.3179+18G>A (n.3179+18G>A) | gnomAD v4 |
16 | g.88430667G>C | CA397078568 | ZNF469 | c.3197G>C (p.Gly1066Ala) c.3179+18G>C (n.3179+18G>C) | |
16 | g.88430667G>T | CA397078571 | ZNF469 | c.3197G>T (p.Gly1066Val) c.3179+18G>T (n.3179+18G>T) | |
16 | g.88430676_88430703dup | CA2573152834 | ZNF469 | c.3206_3233dup (p.Arg1079GlyfsTer16) c.3179+27_3180-31dup (n.3179+27_3180-31dup) | dbSNP gnomAD v4 |
16 | g.88430676_88430703del | CA2634824296 | ZNF469 | c.3206_3233del (p.Ala1069GlyfsTer?) c.3179+27_3180-31del (n.3179+27_3180-31del) | gnomAD v4 |
16 | g.88430668G>A | CA2241073479 | ZNF469 | c.3198G>A (p.Gly1066=) c.3179+19G>A (n.3179+19G>A) | dbSNP gnomAD v4 |
16 | g.88430668G= | CA2241073478 | ZNF469 | c.3198G= (p.Gly1066=) c.3179+19G= (n.3179+19G=) | |
16 | g.88430668G>T | CA2634824297 | ZNF469 | c.3198G>T (p.Gly1066=) c.3179+19G>T (n.3179+19G>T) | ClinVar gnomAD v4 |
16 | g.88430669del | CA2808056167 | ZNF469 | c.3199del (p.Arg1067GlyfsTer?) c.3179+20del (n.3179+20del) | |
16 | g.88430669C>A | CA980298005 | ZNF469 | c.3199C>A (p.Arg1067=) c.3179+20C>A (n.3179+20C>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88430669C= | CA2241073481 | ZNF469 | c.3199C= (p.Arg1067=) c.3179+20C= (n.3179+20C=) | |
16 | g.88430669C>G | CA397078573 | ZNF469 | c.3199C>G (p.Arg1067Gly) c.3179+20C>G (n.3179+20C>G) | |
16 | g.88430669C>T | CA397078574 | ZNF469 | c.3199C>T (p.Arg1067Trp) c.3179+20C>T (n.3179+20C>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88430670G>A | CA397078575 | ZNF469 | c.3200G>A (p.Arg1067Gln) c.3179+21G>A (n.3179+21G>A) | gnomAD v4 |
16 | g.88430670G>C | CA397078579 | ZNF469 | c.3200G>C (p.Arg1067Pro) c.3179+21G>C (n.3179+21G>C) | gnomAD v4 |
16 | g.88430670G>T | CA397078576 | ZNF469 | c.3200G>T (p.Arg1067Leu) c.3179+21G>T (n.3179+21G>T) | |
16 | g.88430671G>A | CA624447585 | ZNF469 | c.3201G>A (p.Arg1067=) c.3179+22G>A (n.3179+22G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88430671G= | CA2241073482 | ZNF469 | c.3201G= (p.Arg1067=) c.3179+22G= (n.3179+22G=) | |
16 | g.88430672C>A | CA2634824298 | ZNF469 | c.3202C>A (p.Arg1068=) c.3179+23C>A (n.3179+23C>A) | gnomAD v4 |
16 | g.88430672C= | CA2241073484 | ZNF469 | c.3202C= (p.Arg1068=) c.3179+23C= (n.3179+23C=) | |
16 | g.88430672C>G | CA397078585 | ZNF469 | c.3202C>G (p.Arg1068Gly) c.3179+23C>G (n.3179+23C>G) | |
16 | g.88430672C>T | CA397078588 | ZNF469 | c.3202C>T (p.Arg1068Trp) c.3179+23C>T (n.3179+23C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88430673G>A | CA397078594 | ZNF469 | c.3203G>A (p.Arg1068Gln) c.3179+24G>A (n.3179+24G>A) | gnomAD v4 |
16 | g.88430673G>C | CA397078601 | ZNF469 | c.3203G>C (p.Arg1068Pro) c.3179+24G>C (n.3179+24G>C) | |
16 | g.88430673G>T | CA397078597 | ZNF469 | c.3203G>T (p.Arg1068Leu) c.3179+24G>T (n.3179+24G>T) | gnomAD v4 |
16 | g.88430674G>A | CA2634824300 | ZNF469 | c.3204G>A (p.Arg1068=) c.3179+25G>A (n.3179+25G>A) | gnomAD v4 |
16 | g.88430674G>T | CA2634824301 | ZNF469 | c.3204G>T (p.Arg1068=) c.3179+25G>T (n.3179+25G>T) | gnomAD v4 |
16 | g.88430675G>A | CA397078604 | ZNF469 | c.3205G>A (p.Ala1069Thr) c.3179+26G>A (n.3179+26G>A) | gnomAD v4 |
16 | g.88430675G>C | CA397078606 | ZNF469 | c.3205G>C (p.Ala1069Pro) c.3179+26G>C (n.3179+26G>C) | |
16 | g.88430675G>T | CA397078608 | ZNF469 | c.3205G>T (p.Ala1069Ser) c.3179+26G>T (n.3179+26G>T) | gnomAD v4 |
16 | g.88430676C>A | CA397078612 | ZNF469 | c.3206C>A (p.Ala1069Glu) c.3179+27C>A (n.3179+27C>A) | |
16 | g.88430676C= | CA2241073486 | ZNF469 | c.3206C= (p.Ala1069=) c.3179+27C= (n.3179+27C=) | |
16 | g.88430676C>G | CA397078615 | ZNF469 | c.3206C>G (p.Ala1069Gly) c.3179+27C>G (n.3179+27C>G) | gnomAD v4 |
16 | g.88430676C>T | CA8224834 | ZNF469 | c.3206C>T (p.Ala1069Val) c.3179+27C>T (n.3179+27C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88430677G>A | CA624447586 | ZNF469 | c.3207G>A (p.Ala1069=) c.3179+28G>A (n.3179+28G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88430677G>C | CA725568348 | ZNF469 | c.3207G>C (p.Ala1069=) c.3179+28G>C (n.3179+28G>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88430677G= | CA2241073489 | ZNF469 | c.3207G= (p.Ala1069=) c.3179+28G= (n.3179+28G=) | |
16 | g.88430677G>T | CA980298013 | ZNF469 | c.3207G>T (p.Ala1069=) c.3179+28G>T (n.3179+28G>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88430679_88430683del | CA2634824303 | ZNF469 | c.3209_3213del (p.Gly1070ValfsTer14) c.3179+30_3179+34del (n.3179+30_3179+34del) | gnomAD v4 |
16 | g.88430678G>A | CA397078622 | ZNF469 | c.3208G>A (p.Gly1070Ser) c.3179+29G>A (n.3179+29G>A) | gnomAD v4 |
16 | g.88430678G>C | CA397078624 | ZNF469 | c.3208G>C (p.Gly1070Arg) c.3179+29G>C (n.3179+29G>C) | |
16 | g.88430678G>T | CA397078628 | ZNF469 | c.3208G>T (p.Gly1070Cys) c.3179+29G>T (n.3179+29G>T) | gnomAD v4 |
16 | g.88430679G>A | CA397078634 | ZNF469 | c.3209G>A (p.Gly1070Asp) c.3179+30G>A (n.3179+30G>A) | gnomAD v4 |
16 | g.88430679G>C | CA397078652 | ZNF469 | c.3209G>C (p.Gly1070Ala) c.3179+30G>C (n.3179+30G>C) | gnomAD v4 |
16 | g.88430679G>T | CA397078656 | ZNF469 | c.3209G>T (p.Gly1070Val) c.3179+30G>T (n.3179+30G>T) | gnomAD v4 |
16 | g.88430680C>A | CA8224835 | ZNF469 | c.3210C>A (p.Gly1070=) c.3179+31C>A (n.3179+31C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.88430680C= | CA2241073490 | ZNF469 | c.3210C= (p.Gly1070=) c.3179+31C= (n.3179+31C=) | |
16 | g.88430680C>T | CA2634824305 | ZNF469 | c.3210C>T (p.Gly1070=) c.3179+31C>T (n.3179+31C>T) | gnomAD v4 |
16 | g.88430681A>G | CA397078659 | ZNF469 | c.3211A>G (p.Arg1071Gly) c.3179+32A>G (n.3179+32A>G) | gnomAD v4 |
16 | g.88430681A>T | CA397078668 | ZNF469 | c.3211A>T (p.Arg1071Trp) c.3179+32A>T (n.3179+32A>T) | |
16 | g.88430682G>A | CA397078672 | ZNF469 | c.3212G>A (p.Arg1071Lys) c.3179+33G>A (n.3179+33G>A) | gnomAD v4 |
16 | g.88430682G>C | CA397078673 | ZNF469 | c.3212G>C (p.Arg1071Thr) c.3179+33G>C (n.3179+33G>C) | |
16 | g.88430682G>T | CA397078674 | ZNF469 | c.3212G>T (p.Arg1071Met) c.3179+33G>T (n.3179+33G>T) | |
16 | g.88430683G>A | CA2241073493 | ZNF469 | c.3213G>A (p.Arg1071=) c.3179+34G>A (n.3179+34G>A) | dbSNP gnomAD v4 |
16 | g.88430683G>C | CA397078676 | ZNF469 | c.3213G>C (p.Arg1071Ser) c.3179+34G>C (n.3179+34G>C) | |
16 | g.88430683G= | CA2241073492 | ZNF469 | c.3213G= (p.Arg1071=) c.3179+34G= (n.3179+34G=) | |
16 | g.88430683G>T | CA286374605 | ZNF469 | c.3213G>T (p.Arg1071Ser) c.3179+34G>T (n.3179+34G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88430684T>A | CA397078685 | ZNF469 | c.3214T>A (p.Cys1072Ser) c.3179+35T>A (n.3179+35T>A) | |
16 | g.88430684T>C | CA397078694 | ZNF469 | c.3214T>C (p.Cys1072Arg) c.3179+35T>C (n.3179+35T>C) | |
16 | g.88430684T>G | CA286374614 | ZNF469 | c.3214T>G (p.Cys1072Gly) c.3179+35T>G (n.3179+35T>G) | dbSNP |
16 | g.88430684T= | CA2241073495 | ZNF469 | c.3214T= (p.Cys1072=) c.3179+35T= (n.3179+35T=) | |
16 | g.88430685G>A | CA397078702 | ZNF469 | c.3215G>A (p.Cys1072Tyr) c.3179+36G>A (n.3179+36G>A) | dbSNP gnomAD v4 |
16 | g.88430685G>C | CA397078708 | ZNF469 | c.3215G>C (p.Cys1072Ser) c.3179+36G>C (n.3179+36G>C) | |
16 | g.88430685G= | CA2241073497 | ZNF469 | c.3215G= (p.Cys1072=) c.3179+36G= (n.3179+36G=) | |
16 | g.88430685G>T | CA397078713 | ZNF469 | c.3215G>T (p.Cys1072Phe) c.3179+36G>T (n.3179+36G>T) | gnomAD v4 |
16 | g.88430686del | CA2634824306 | ZNF469 | c.3216del (p.Cys1072TrpfsTer?) c.3179+37del (n.3179+37del) | gnomAD v4 |
16 | g.88430686C>A | CA397078722 | ZNF469 | c.3216C>A (p.Cys1072Ter) c.3179+37C>A (n.3179+37C>A) | gnomAD v4 |
16 | g.88430686C= | CA2241073499 | ZNF469 | c.3216C= (p.Cys1072=) c.3179+37C= (n.3179+37C=) | |
16 | g.88430686C>G | CA397078723 | ZNF469 | c.3216C>G (p.Cys1072Trp) c.3179+37C>G (n.3179+37C>G) | |
16 | g.88430686C>T | CA8224836 | ZNF469 | c.3216C>T (p.Cys1072=) c.3179+37C>T (n.3179+37C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88430687G>A | CA397078724 | ZNF469 | c.3217G>A (p.Gly1073Ser) c.3179+38G>A (n.3179+38G>A) | gnomAD v4 |
16 | g.88430687G>C | CA397078726 | ZNF469 | c.3217G>C (p.Gly1073Arg) c.3179+38G>C (n.3179+38G>C) | gnomAD v4 |
16 | g.88430687G>T | CA397078727 | ZNF469 | c.3217G>T (p.Gly1073Cys) c.3179+38G>T (n.3179+38G>T) | |
16 | g.88430688G>A | CA397078732 | ZNF469 | c.3218G>A (p.Gly1073Asp) c.3179+39G>A (n.3179+39G>A) | gnomAD v4 |
16 | g.88430688G>C | CA397078734 | ZNF469 | c.3218G>C (p.Gly1073Ala) c.3179+39G>C (n.3179+39G>C) | |
16 | g.88430688G>T | CA397078735 | ZNF469 | c.3218G>T (p.Gly1073Val) c.3179+39G>T (n.3179+39G>T) | gnomAD v4 |
16 | g.88430689C>A | CA2634824307 | ZNF469 | c.3219C>A (p.Gly1073=) c.3179+40C>A (n.3179+40C>A) | gnomAD v4 |
16 | g.88430689C= | CA2241073500 | ZNF469 | c.3219C= (p.Gly1073=) c.3179+40C= (n.3179+40C=) | |
16 | g.88430689C>G | CA2241073501 | ZNF469 | c.3219C>G (p.Gly1073=) c.3179+40C>G (n.3179+40C>G) | dbSNP gnomAD v4 |