Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.45947806del | CA2653107660 | PCIF1 | c.*51del (n.*51del) c.1107del | gnomAD v4 |
20 | g.45947805G>A | CA636176176 | PCIF1 | c.*50G>A (n.*50G>A) c.1106G>A | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45947805G>C | CA315641356 | PCIF1 | c.*50G>C (n.*50G>C) c.1106G>C | dbSNP |
20 | g.45947805G= | CA2366447957 | PCIF1 | c.*50G= (n.*50G=) c.1106G= | |
20 | g.45947805G>T | CA2653107663 | PCIF1 | c.*50G>T (n.*50G>T) c.1106G>T | gnomAD v4 |
20 | g.45947806G>A | CA636176177 | PCIF1 | c.*51G>A (n.*51G>A) c.1107G>A | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45947806G= | CA2366447958 | PCIF1 | c.*51G= (n.*51G=) c.1107G= | |
20 | g.45947806G>T | CA2653107664 | PCIF1 | c.*51G>T (n.*51G>T) c.1107G>T | gnomAD v4 |
20 | g.45947808C= | CA2366447960 | PCIF1 | c.*53C= (n.*53C=) c.1109C= | |
20 | g.45947808C>T | CA1017930152 | PCIF1 | c.*53C>T (n.*53C>T) c.1109C>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947808_45947828delinsCTCGGGCCCCTGGGGCCTCAG | CA2366447959 | PCIF1 | c.*53_*73delinsCTCGGGCCCCTGGGGCCTCAG (n.*53_*73delinsCTCGGGCCCCTGGGGCCTCAG) c.1109_1129delinsCTCGGGCCCCTGGGGCCTCAG | |
20 | g.45947809T>C | CA2577412991 | PCIF1 | c.*54T>C (n.*54T>C) c.1110T>C | |
20 | g.45947809_45947828del | CA315641360 | PCIF1 | c.*54_*73del (n.*54_*73del) c.1110_1129del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947810C= | CA2366447961 | PCIF1 | c.*55C= (n.*55C=) c.1111C= | |
20 | g.45947810C>T | CA315641365 | PCIF1 | c.*55C>T (n.*55C>T) c.1111C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947811G>A | CA315641369 | PCIF1 | c.*56G>A (n.*56G>A) c.1112G>A | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947811G= | CA2366447962 | PCIF1 | c.*56G= (n.*56G=) c.1112G= | |
20 | g.45947811G>T | CA2653107665 | PCIF1 | c.*56G>T (n.*56G>T) c.1112G>T | gnomAD v4 |
20 | g.45947813G>A | CA2653107666 | PCIF1 | c.*58G>A (n.*58G>A) c.1114G>A | gnomAD v4 |
20 | g.45947813G>T | CA2653107667 | PCIF1 | c.*58G>T (n.*58G>T) c.1114G>T | gnomAD v4 |
20 | g.45947814C>A | CA2653107668 | PCIF1 | c.*59C>A (n.*59C>A) c.1115C>A | gnomAD v4 |
20 | g.45947814C>T | CA2653107669 | PCIF1 | c.*59C>T (n.*59C>T) c.1115C>T | gnomAD v4 |
20 | g.45947816C>A | CA2653107670 | PCIF1 | c.*61C>A (n.*61C>A) c.1117C>A | gnomAD v4 |
20 | g.45947816C>T | CA2653107671 | PCIF1 | c.*61C>T (n.*61C>T) c.1117C>T | gnomAD v4 |
20 | g.45947817C>A | CA2653107672 | PCIF1 | c.*62C>A (n.*62C>A) c.1118C>A | gnomAD v4 |
20 | g.45947817C= | CA2366447963 | PCIF1 | c.*62C= (n.*62C=) c.1118C= | |
20 | g.45947817C>T | CA1017930159 | PCIF1 | c.*62C>T (n.*62C>T) c.1118C>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947818T>C | CA2653107673 | PCIF1 | c.*63T>C (n.*63T>C) c.1119T>C | gnomAD v4 |
20 | g.45947819G>A | CA315641379 | PCIF1 | c.*64G>A (n.*64G>A) c.1120G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947819G= | CA2366447964 | PCIF1 | c.*64G= (n.*64G=) c.1120G= | |
20 | g.45947819G>T | CA2653107674 | PCIF1 | c.*64G>T (n.*64G>T) c.1120G>T | gnomAD v4 |
20 | g.45947820G>T | CA2653107675 | PCIF1 | c.*65G>T (n.*65G>T) c.1121G>T | gnomAD v4 |
20 | g.45947821G= | CA2366447965 | PCIF1 | c.*66G= (n.*66G=) c.1122G= | |
20 | g.45947821G>T | CA2366447966 | PCIF1 | c.*66G>T (n.*66G>T) c.1122G>T | dbSNP gnomAD v4 |
20 | g.45947822G>C | CA1017930161 | PCIF1 | c.*67G>C (n.*67G>C) c.1123G>C | gnomAD v3 gnomAD v4 |
20 | g.45947823C>A | CA2536701280 | PCIF1 | c.*68C>A (n.*68C>A) c.1124C>A | |
20 | g.45947823C= | CA2366447967 | PCIF1 | c.*68C= (n.*68C=) c.1124C= | |
20 | g.45947823C>T | CA636176178 | PCIF1 | c.*68C>T (n.*68C>T) c.1124C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947824C= | CA2366447968 | PCIF1 | c.*69C= (n.*69C=) c.1125C= | |
20 | g.45947824C>G | CA315641384 | PCIF1 | c.*69C>G (n.*69C>G) c.1125C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947824C>T | CA2366447969 | PCIF1 | c.*69C>T (n.*69C>T) c.1125C>T | dbSNP gnomAD v4 |
20 | g.45947825T>C | CA2736988073 | PCIF1 | c.*70T>C (n.*70T>C) c.1126T>C | dbSNP |
20 | g.45947825T>G | CA2653107676 | PCIF1 | c.*70T>G (n.*70T>G) c.1126T>G | gnomAD v4 |
20 | g.45947826C= | CA2366447970 | PCIF1 | c.*71C= (n.*71C=) c.1127C= | |
20 | g.45947826C>T | CA1017930165 | PCIF1 | c.*71C>T (n.*71C>T) c.1127C>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947827A= | CA2366447971 | PCIF1 | c.*72A= (n.*72A=) c.1128A= | |
20 | g.45947827A>G | CA636176179 | PCIF1 | c.*72A>G (n.*72A>G) c.1128A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947827A>T | CA744845237 | PCIF1 | c.*72A>T (n.*72A>T) c.1128A>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947827dup | CA2577412994 | PCIF1 | c.*72dup (n.*72dup) c.1128dup | gnomAD v4 |
20 | g.45947828G>T | CA2816513975 | PCIF1 | c.*73G>T (n.*73G>T) c.1129G>T | |
20 | g.45947829A>G | CA2653107677 | PCIF1 | c.*74A>G (n.*74A>G) c.1130A>G | gnomAD v4 |
20 | g.45947830G>T | CA2653107678 | PCIF1 | c.*75G>T (n.*75G>T) c.1131G>T | gnomAD v4 |
20 | g.45947832del | CA2577412996 | PCIF1 | c.*77del (n.*77del) c.1133del | gnomAD v4 |
20 | g.45947832G>A | CA2366447973 | PCIF1 | c.*77G>A (n.*77G>A) c.1133G>A | dbSNP |
20 | g.45947832G= | CA2366447972 | PCIF1 | c.*77G= (n.*77G=) c.1133G= | |
20 | g.45947833A= | CA2366447974 | PCIF1 | c.*78A= (n.*78A=) c.1134A= | |
20 | g.45947833A>C | CA315641399 | PCIF1 | c.*78A>C (n.*78A>C) c.1134A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947833A>G | CA1017930181 | PCIF1 | c.*78A>G (n.*78A>G) c.1134A>G | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947833A>T | CA315641404 | PCIF1 | c.*78A>T (n.*78A>T) c.1134A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947834C>A | CA2653107679 | PCIF1 | c.*79C>A (n.*79C>A) c.1135C>A | gnomAD v4 |
20 | g.45947834C>T | CA2653107680 | PCIF1 | c.*79C>T (n.*79C>T) c.1135C>T | gnomAD v4 |
20 | g.45947837C>A | CA2653107681 | PCIF1 | c.*82C>A (n.*82C>A) c.1138C>A | gnomAD v4 |
20 | g.45947837C= | CA2366447975 | PCIF1 | c.*82C= (n.*82C=) c.1138C= | |
20 | g.45947837C>G | CA2653107682 | PCIF1 | c.*82C>G (n.*82C>G) c.1138C>G | gnomAD v4 |
20 | g.45947837C>T | CA315641407 | PCIF1 | c.*82C>T (n.*82C>T) c.1138C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947838G>A | CA315641411 | PCIF1 | c.*83G>A (n.*83G>A) c.1139G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947838G= | CA2366447976 | PCIF1 | c.*83G= (n.*83G=) c.1139G= | |
20 | g.45947839G>A | CA2653107683 | PCIF1 | c.*84G>A (n.*84G>A) c.1140G>A | gnomAD v4 |
20 | g.45947839G>C | CA315641415 | PCIF1 | c.*84G>C (n.*84G>C) c.1140G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947839G= | CA2366447977 | PCIF1 | c.*84G= (n.*84G=) c.1140G= | |
20 | g.45947839G>T | CA2653107684 | PCIF1 | c.*84G>T (n.*84G>T) c.1140G>T | gnomAD v4 |
20 | g.45947839_45947840delinsGC | CA2366447978 | PCIF1 | c.*84_*85delinsGC (n.*84_*85delinsGC) c.1140_1141delinsGC | |
20 | g.45947840del | CA315641427 | PCIF1 | c.*85del (n.*85del) c.1141del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947840C>A | CA2653107685 | PCIF1 | c.*85C>A (n.*85C>A) c.1141C>A | gnomAD v4 |
20 | g.45947840dup | CA315641431 | PCIF1 | c.*85dup (n.*85dup) c.1141dup | dbSNP |
20 | g.45947841T>A | CA2653107686 | PCIF1 | c.*86T>A (n.*86T>A) c.1142T>A | gnomAD v4 |
20 | g.45947842G>A | CA2653107687 | PCIF1 | c.*87G>A (n.*87G>A) c.1143G>A | gnomAD v4 |
20 | g.45947843C>A | CA2842603147 | PCIF1 | c.*88C>A (n.*88C>A) c.1144C>A | |
20 | g.45947844C>A | CA2842603148 | PCIF1 | c.*89C>A (n.*89C>A) c.1145C>A | |
20 | g.45947844C>T | CA2653107688 | PCIF1 | c.*89C>T (n.*89C>T) c.1145C>T | gnomAD v4 |
20 | g.45947848_45947851dup | CA2577413000 | PCIF1 | c.*93_*96dup (n.*93_*96dup) c.1149_1152dup | |
20 | g.45947849A>G | CA2653107690 | PCIF1 | c.*94A>G (n.*94A>G) c.1150A>G | gnomAD v4 |
20 | g.45947849A>T | CA2653107689 | PCIF1 | c.*94A>T (n.*94A>T) c.1150A>T | gnomAD v4 |
20 | g.45947850C>A | CA2842603149 | PCIF1 | c.*95C>A (n.*95C>A) c.1151C>A | |
20 | g.45947850C= | CA2366447980 | PCIF1 | c.*95C= (n.*95C=) c.1151C= | |
20 | g.45947850C>G | CA2366447981 | PCIF1 | c.*95C>G (n.*95C>G) c.1151C>G | dbSNP |
20 | g.45947850C>T | CA2653107691 | PCIF1 | c.*95C>T (n.*95C>T) c.1151C>T | gnomAD v4 |
20 | g.45947850_45947852delinsCAT | CA2366447979 | PCIF1 | c.*95_*97delinsCAT (n.*95_*97delinsCAT) c.1151_1153delinsCAT | |
20 | g.45947851A>G | CA2653107692 | PCIF1 | c.*96A>G (n.*96A>G) c.1152A>G | gnomAD v4 |
20 | g.45947853_45947854del | CA744845256 | PCIF1 | c.*98_*99del (n.*98_*99del) c.1154_1155del | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947852T>C | CA2653107693 | PCIF1 | c.*97T>C (n.*97T>C) c.1153T>C | gnomAD v4 |
20 | g.45947854T>A | CA2580618834 | PCIF1 | c.*99T>A (n.*99T>A) c.1155T>A | |
20 | g.45947854T>C | CA315641442 | PCIF1 | c.*99T>C (n.*99T>C) c.1155T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947854T>G | CA315641463 | PCIF1 | c.*99T>G (n.*99T>G) c.1155T>G | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947854T= | CA2366447982 | PCIF1 | c.*99T= (n.*99T=) c.1155T= | |
20 | g.45947854_45947857delinsTGAA | CA2366447983 | PCIF1 | c.*99_*102delinsTGAA (n.*99_*102delinsTGAA) c.1155_1158delinsTGAA | |
20 | g.45947855_45947866del | CA2653107694 | PCIF1 | c.*100_*111del (n.*100_*111del) c.1156_1167del | gnomAD v4 |
20 | g.45947855_45947867del | CA2653107695 | PCIF1 | c.*100_*112del (n.*100_*112del) c.1156_1168del | gnomAD v4 |
20 | g.45947857_45947859del | CA744845263 | PCIF1 | c.*102_*104del (n.*102_*104del) c.1158_1160del | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947856A= | CA2366447984 | PCIF1 | c.*101A= (n.*101A=) c.1157A= | |
20 | g.45947856A>G | CA744845264 | PCIF1 | c.*101A>G (n.*101A>G) c.1157A>G | dbSNP |
20 | g.45947857A= | CA2366447985 | PCIF1 | c.*102A= (n.*102A=) c.1158A= | |
20 | g.45947858G>A | CA315641467 | PCIF1 | c.*103G>A (n.*103G>A) c.1159G>A | dbSNP gnomAD v4 |
20 | g.45947858G= | CA2366447986 | PCIF1 | c.*103G= (n.*103G=) c.1159G= | |
20 | g.45947858_45947866dup | CA1017930225 | PCIF1 | c.*103_*111dup (n.*103_*111dup) c.1159_1167dup | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947860T>C | CA2653107696 | PCIF1 | c.*105T>C (n.*105T>C) c.1161T>C | gnomAD v4 |
20 | g.45947860T>G | CA657646559 | PCIF1 | c.*105T>G (n.*105T>G) c.1161T>G | COSMIC |
20 | g.45947861T>G | CA636176180 | PCIF1 | c.*106T>G (n.*106T>G) c.1162T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947861T= | CA2366447987 | PCIF1 | c.*106T= (n.*106T=) c.1162T= | |
20 | g.45947862A>G | CA2577413002 | PCIF1 | c.*107A>G (n.*107A>G) c.1163A>G | |
20 | g.45947863T>A | CA2580576422 | PCIF1 | c.*108T>A (n.*108T>A) c.1164T>A | |
20 | g.45947863T>C | CA14776170 | PCIF1 | c.*108T>C (n.*108T>C) c.1164T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947863T>G | CA2580576423 | PCIF1 | c.*108T>G (n.*108T>G) c.1164T>G | |
20 | g.45947863T= | CA2366447988 | PCIF1 | c.*108T= (n.*108T=) c.1164T= | |
20 | g.45947864G>A | CA636176181 | PCIF1 | c.*109G>A (n.*109G>A) c.1165G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947864G= | CA2366447989 | PCIF1 | c.*109G= (n.*109G=) c.1165G= | |
20 | g.45947865G>A | CA1017930228 | PCIF1 | c.*110G>A (n.*110G>A) c.1166G>A | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947865G= | CA2366447990 | PCIF1 | c.*110G= (n.*110G=) c.1166G= | |
20 | g.45947866T>C | CA2842603150 | PCIF1 | c.*111T>C (n.*111T>C) c.1167T>C | |
20 | g.45947867T>G | CA315641477 | PCIF1 | c.*112T>G (n.*112T>G) c.1168T>G | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947867T= | CA2366447991 | PCIF1 | c.*112T= (n.*112T=) c.1168T= | |
20 | g.45947868C>A | CA2653107697 | PCIF1 | c.*113C>A (n.*113C>A) c.1169C>A | gnomAD v4 |
20 | g.45947868C>T | CA2653107698 | PCIF1 | c.*113C>T (n.*113C>T) c.1169C>T | gnomAD v4 |
20 | g.45947870G>A | CA2653107699 | PCIF1 | c.*115G>A (n.*115G>A) c.1171G>A | gnomAD v4 |
20 | g.45947870G>T | CA2741670522 | PCIF1 | c.*115G>T (n.*115G>T) c.1171G>T | |
20 | g.45947871C= | CA2366447992 | PCIF1 | c.*116C= (n.*116C=) c.1172C= | |
20 | g.45947871C>T | CA315641492 | PCIF1 | c.*116C>T (n.*116C>T) c.1172C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947872C>T | CA2653107700 | PCIF1 | c.*117C>T (n.*117C>T) c.1173C>T | gnomAD v4 |
20 | g.45947873A>G | CA2653107701 | PCIF1 | c.*118A>G (n.*118A>G) c.1174A>G | gnomAD v4 |
20 | g.45947874G>A | CA2653107702 | PCIF1 | c.*119G>A (n.*119G>A) c.1175G>A | gnomAD v4 |
20 | g.45947875G>A | CA2577413003 | PCIF1 | c.*120G>A (n.*120G>A) c.1176G>A | |
20 | g.45947876G>A | CA2653107703 | PCIF1 | c.*121G>A (n.*121G>A) c.1177G>A | gnomAD v4 |
20 | g.45947876G= | CA2366447993 | PCIF1 | c.*121G= (n.*121G=) c.1177G= | |
20 | g.45947876G>T | CA744845275 | PCIF1 | c.*121G>T (n.*121G>T) c.1177G>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947877C>A | CA2653107704 | PCIF1 | c.*122C>A (n.*122C>A) c.1178C>A | gnomAD v4 |
20 | g.45947877C= | CA2366447994 | PCIF1 | c.*122C= (n.*122C=) c.1178C= | |
20 | g.45947877C>G | CA2653107705 | PCIF1 | c.*122C>G (n.*122C>G) c.1178C>G | gnomAD v4 |
20 | g.45947877C>T | CA744845277 | PCIF1 | c.*122C>T (n.*122C>T) c.1178C>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947878T>C | CA2653107706 | PCIF1 | c.*123T>C (n.*123T>C) c.1179T>C | gnomAD v4 |
20 | g.45947879C>T | CA2653107708 | PCIF1 | c.*124C>T (n.*124C>T) c.1180C>T | gnomAD v4 |
20 | g.45947882del | CA2653107707 | PCIF1 | c.*127del (n.*127del) c.1183del | gnomAD v4 |
20 | g.45947880C>A | CA2653107709 | PCIF1 | c.*125C>A (n.*125C>A) c.1181C>A | gnomAD v4 |
20 | g.45947882C>A | CA2653107710 | PCIF1 | c.*127C>A (n.*127C>A) c.1183C>A | gnomAD v4 |
20 | g.45947883T>C | CA2653107711 | PCIF1 | c.*128T>C (n.*128T>C) c.1184T>C | gnomAD v4 |
20 | g.45947884C>A | CA2653107712 | PCIF1 | c.*129C>A (n.*129C>A) c.1185C>A | gnomAD v4 |
20 | g.45947884C= | CA2366447995 | PCIF1 | c.*129C= (n.*129C=) c.1185C= | |
20 | g.45947884C>T | CA2366447996 | PCIF1 | c.*129C>T (n.*129C>T) c.1185C>T | dbSNP gnomAD v4 |
20 | g.45947885C>A | CA2653107713 | PCIF1 | c.*130C>A (n.*130C>A) c.1186C>A | gnomAD v4 |
20 | g.45947885C= | CA2366447997 | PCIF1 | c.*130C= (n.*130C=) c.1186C= | |
20 | g.45947885C>T | CA315641497 | PCIF1 | c.*130C>T (n.*130C>T) c.1186C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947886C>A | CA2653107714 | PCIF1 | c.*131C>A (n.*131C>A) c.1187C>A | gnomAD v4 |
20 | g.45947886C>G | CA2653107715 | PCIF1 | c.*131C>G (n.*131C>G) c.1187C>G | gnomAD v4 |
20 | g.45947887T>A | CA2653107716 | PCIF1 | c.*132T>A (n.*132T>A) c.1188T>A | gnomAD v4 |
20 | g.45947888G>A | CA2653107717 | PCIF1 | c.*133G>A (n.*133G>A) c.1189G>A | gnomAD v4 |
20 | g.45947888G>C | CA2577413004 | PCIF1 | c.*133G>C (n.*133G>C) c.1189G>C | gnomAD v4 |
20 | g.45947888G>T | CA2653107718 | PCIF1 | c.*133G>T (n.*133G>T) c.1189G>T | gnomAD v4 |
20 | g.45947889C= | CA2366447998 | PCIF1 | c.*134C= (n.*134C=) c.1190C= | |
20 | g.45947889C>T | CA315641501 | PCIF1 | c.*134C>T (n.*134C>T) c.1190C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947890C= | CA2366447999 | PCIF1 | c.*135C= (n.*135C=) c.1191C= | |
20 | g.45947890C>T | CA2366448000 | PCIF1 | c.*135C>T (n.*135C>T) c.1191C>T | dbSNP gnomAD v4 |
20 | g.45947891_45947894dup | CA2653107719 | PCIF1 | c.*136_*139dup (n.*136_*139dup) c.1192_1195dup | gnomAD v4 |
20 | g.45947891T>C | CA744845280 | PCIF1 | c.*136T>C (n.*136T>C) c.1192T>C | dbSNP gnomAD v4 |
20 | g.45947891T= | CA2366448001 | PCIF1 | c.*136T= (n.*136T=) c.1192T= | |
20 | g.45947892G>A | CA2653107720 | PCIF1 | c.*137G>A (n.*137G>A) c.1193G>A | gnomAD v4 |
20 | g.45947892G>T | CA2653107721 | PCIF1 | c.*137G>T (n.*137G>T) c.1193G>T | gnomAD v4 |
20 | g.45947893T>A | CA2653107722 | PCIF1 | c.*138T>A (n.*138T>A) c.1194T>A | gnomAD v4 |
20 | g.45947893T>C | CA2653107723 | PCIF1 | c.*138T>C (n.*138T>C) c.1194T>C | gnomAD v4 |
20 | g.45947894C>A | CA2552009646 | PCIF1 | c.*139C>A (n.*139C>A) c.1195C>A | gnomAD v4 |
20 | g.45947894C>T | CA2816513976 | PCIF1 | c.*139C>T (n.*139C>T) c.1195C>T | |
20 | g.45947895C>A | CA2653107724 | PCIF1 | c.*140C>A (n.*140C>A) c.1196C>A | gnomAD v4 |
20 | g.45947896C>A | CA2653107725 | PCIF1 | c.*141C>A (n.*141C>A) c.1197C>A | gnomAD v4 |
20 | g.45947897C>A | CA2653107726 | PCIF1 | c.*142C>A (n.*142C>A) c.1198C>A | gnomAD v4 |
20 | g.45947897C>T | CA2653107727 | PCIF1 | c.*142C>T (n.*142C>T) c.1198C>T | gnomAD v4 |
20 | g.45947898A= | CA2366448002 | PCIF1 | c.*143A= (n.*143A=) c.1199A= | |
20 | g.45947898A>G | CA2366448003 | PCIF1 | c.*143A>G (n.*143A>G) c.1199A>G | dbSNP |
20 | g.45947899A>G | CA2653107728 | PCIF1 | c.*144A>G (n.*144A>G) c.1200A>G | gnomAD v4 |
20 | g.45947899A>T | CA2653107729 | PCIF1 | c.*144A>T (n.*144A>T) c.1200A>T | gnomAD v4 |
20 | g.45947900G>A | CA2653107730 | PCIF1 | c.*145G>A (n.*145G>A) c.1201G>A | gnomAD v4 |
20 | g.45947900G= | CA2366448004 | PCIF1 | c.*145G= (n.*145G=) c.1201G= | |
20 | g.45947900G>T | CA315641505 | PCIF1 | c.*145G>T (n.*145G>T) c.1201G>T | dbSNP gnomAD v4 |
20 | g.45947903C>A | CA2653107731 | PCIF1 | c.*148C>A (n.*148C>A) c.1204C>A | gnomAD v4 |
20 | g.45947903C>G | CA2653107733 | PCIF1 | c.*148C>G (n.*148C>G) c.1204C>G | gnomAD v4 |
20 | g.45947903C>T | CA2653107732 | PCIF1 | c.*148C>T (n.*148C>T) c.1204C>T | gnomAD v4 |
20 | g.45947904T>G | CA2653107734 | PCIF1 | c.*149T>G (n.*149T>G) c.1205T>G | gnomAD v4 |
20 | g.45947905C>A | CA2653107735 | PCIF1 | c.*150C>A (n.*150C>A) c.1206C>A | gnomAD v4 |
20 | g.45947905C= | CA2366448005 | PCIF1 | c.*150C= (n.*150C=) c.1206C= | |
20 | g.45947905C>T | CA2366448006 | PCIF1 | c.*150C>T (n.*150C>T) c.1206C>T | dbSNP |