| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.7803138G>A | CA338134150 | PER3 | c.964G>A (p.Ala322Thr) c.961G>A (p.Ala321Thr) n.88G>A c.7G>A (p.Ala3Thr) c.439G>A (p.Ala147Thr) c.796G>A (p.Ala266Thr) c.616G>A (p.Ala206Thr) c.601G>A (p.Ala201Thr) c.-302G>A (n.-302G>A) | gnomAD v4 |
| 1 | g.7803138G>C | CA338134147 | PER3 | c.964G>C (p.Ala322Pro) c.961G>C (p.Ala321Pro) n.88G>C c.7G>C (p.Ala3Pro) c.439G>C (p.Ala147Pro) c.796G>C (p.Ala266Pro) c.616G>C (p.Ala206Pro) c.601G>C (p.Ala201Pro) c.-302G>C (n.-302G>C) | |
| 1 | g.7803138G>T | CA338134149 | PER3 | c.964G>T (p.Ala322Ser) c.961G>T (p.Ala321Ser) n.88G>T c.7G>T (p.Ala3Ser) c.439G>T (p.Ala147Ser) c.796G>T (p.Ala266Ser) c.616G>T (p.Ala206Ser) c.601G>T (p.Ala201Ser) c.-302G>T (n.-302G>T) | |
| 1 | g.7803138_7803139delinsGC | CA1152038737 | PER3 | c.964_965delinsGC (p.Ala322=) c.961_962delinsGC (p.Ala321=) n.88_89delinsGC c.7_8delinsGC (p.Ala3=) c.439_440delinsGC (p.Ala147=) c.796_797delinsGC (p.Ala266=) c.616_617delinsGC (p.Ala206=) c.601_602delinsGC (p.Ala201=) c.-302_-301delinsGC (n.-302_-301delinsGC) | |
| 1 | g.7803139C>A | CA338134152 | PER3 | c.965C>A (p.Ala322Asp) c.962C>A (p.Ala321Asp) n.89C>A c.8C>A (p.Ala3Asp) c.440C>A (p.Ala147Asp) c.797C>A (p.Ala266Asp) c.617C>A (p.Ala206Asp) c.602C>A (p.Ala201Asp) c.-301C>A (n.-301C>A) | gnomAD v4 |
| 1 | g.7803139C>G | CA338134154 | PER3 | c.965C>G (p.Ala322Gly) c.962C>G (p.Ala321Gly) n.89C>G c.8C>G (p.Ala3Gly) c.440C>G (p.Ala147Gly) c.797C>G (p.Ala266Gly) c.617C>G (p.Ala206Gly) c.602C>G (p.Ala201Gly) c.-301C>G (n.-301C>G) | |
| 1 | g.7803139C>T | CA338134156 | PER3 | c.965C>T (p.Ala322Val) c.962C>T (p.Ala321Val) n.89C>T c.8C>T (p.Ala3Val) c.440C>T (p.Ala147Val) c.797C>T (p.Ala266Val) c.617C>T (p.Ala206Val) c.602C>T (p.Ala201Val) c.-301C>T (n.-301C>T) | gnomAD v4 |
| 1 | g.7803140dup | CA1152038738 | PER3 | c.966dup (p.Ile323HisfsTer15) c.963dup (p.Ile322HisfsTer15) n.90dup c.9dup (p.Ile4HisfsTer15) c.441dup (p.Ile148HisfsTer15) c.798dup (p.Ile267HisfsTer15) c.618dup (p.Ile207HisfsTer15) c.603dup (p.Ile202HisfsTer15) c.-300dup (n.-300dup) | dbSNP |
| 1 | g.7803140del | CA739064976 | PER3 | c.966del (p.Ile323TyrfsTer6) c.963del (p.Ile322TyrfsTer6) n.90del c.9del (p.Ile4TyrfsTer6) c.441del (p.Ile148TyrfsTer6) c.798del (p.Ile267TyrfsTer6) c.618del (p.Ile207TyrfsTer6) c.603del (p.Ile202TyrfsTer6) c.-300del (n.-300del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.7803140C>A | CA415834083 | PER3 | c.966C>A (p.Ala322=) c.963C>A (p.Ala321=) n.90C>A c.9C>A (p.Ala3=) c.441C>A (p.Ala147=) c.798C>A (p.Ala266=) c.618C>A (p.Ala206=) c.603C>A (p.Ala201=) c.-300C>A (n.-300C>A) | gnomAD v4 |
| 1 | g.7803140C>G | CA415834084 | PER3 | c.966C>G (p.Ala322=) c.963C>G (p.Ala321=) n.90C>G c.9C>G (p.Ala3=) c.441C>G (p.Ala147=) c.798C>G (p.Ala266=) c.618C>G (p.Ala206=) c.603C>G (p.Ala201=) c.-300C>G (n.-300C>G) | |
| 1 | g.7803140C>T | CA415834085 | PER3 | c.966C>T (p.Ala322=) c.963C>T (p.Ala321=) n.90C>T c.9C>T (p.Ala3=) c.441C>T (p.Ala147=) c.798C>T (p.Ala266=) c.618C>T (p.Ala206=) c.603C>T (p.Ala201=) c.-300C>T (n.-300C>T) | gnomAD v4 |
| 1 | g.7803141A= | CA1152038739 | PER3 | c.967A= (p.Ile323=) c.964A= (p.Ile322=) n.91A= c.10A= (p.Ile4=) c.442A= (p.Ile148=) c.799A= (p.Ile267=) c.619A= (p.Ile207=) c.604A= (p.Ile202=) c.-299A= (n.-299A=) | |
| 1 | g.7803141A>C | CA338134161 | PER3 | c.967A>C (p.Ile323Leu) c.964A>C (p.Ile322Leu) n.91A>C c.10A>C (p.Ile4Leu) c.442A>C (p.Ile148Leu) c.799A>C (p.Ile267Leu) c.619A>C (p.Ile207Leu) c.604A>C (p.Ile202Leu) c.-299A>C (n.-299A>C) | |
| 1 | g.7803141A>G | CA338134165 | PER3 | c.967A>G (p.Ile323Val) c.964A>G (p.Ile322Val) n.91A>G c.10A>G (p.Ile4Val) c.442A>G (p.Ile148Val) c.799A>G (p.Ile267Val) c.619A>G (p.Ile207Val) c.604A>G (p.Ile202Val) c.-299A>G (n.-299A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.7803141A>T | CA338134167 | PER3 | c.967A>T (p.Ile323Leu) c.964A>T (p.Ile322Leu) n.91A>T c.10A>T (p.Ile4Leu) c.442A>T (p.Ile148Leu) c.799A>T (p.Ile267Leu) c.619A>T (p.Ile207Leu) c.604A>T (p.Ile202Leu) c.-299A>T (n.-299A>T) | gnomAD v4 |
| 1 | g.7803142T>A | CA338134172 | PER3 | c.968T>A (p.Ile323Lys) c.965T>A (p.Ile322Lys) n.92T>A c.11T>A (p.Ile4Lys) c.443T>A (p.Ile148Lys) c.800T>A (p.Ile267Lys) c.620T>A (p.Ile207Lys) c.605T>A (p.Ile202Lys) c.-298T>A (n.-298T>A) | |
| 1 | g.7803142T>C | CA338134189 | PER3 | c.968T>C (p.Ile323Thr) c.965T>C (p.Ile322Thr) n.92T>C c.11T>C (p.Ile4Thr) c.443T>C (p.Ile148Thr) c.800T>C (p.Ile267Thr) c.620T>C (p.Ile207Thr) c.605T>C (p.Ile202Thr) c.-298T>C (n.-298T>C) | |
| 1 | g.7803142T>G | CA338134177 | PER3 | c.968T>G (p.Ile323Arg) c.965T>G (p.Ile322Arg) n.92T>G c.11T>G (p.Ile4Arg) c.443T>G (p.Ile148Arg) c.800T>G (p.Ile267Arg) c.620T>G (p.Ile207Arg) c.605T>G (p.Ile202Arg) c.-298T>G (n.-298T>G) | |
| 1 | g.7803143A= | CA1152038740 | PER3 | c.969A= (p.Ile323=) c.966A= (p.Ile322=) n.93A= c.12A= (p.Ile4=) c.444A= (p.Ile148=) c.801A= (p.Ile267=) c.621A= (p.Ile207=) c.606A= (p.Ile202=) c.-297A= (n.-297A=) | |
| 1 | g.7803143A>C | CA415834086 | PER3 | c.969A>C (p.Ile323=) c.966A>C (p.Ile322=) n.93A>C c.12A>C (p.Ile4=) c.444A>C (p.Ile148=) c.801A>C (p.Ile267=) c.621A>C (p.Ile207=) c.606A>C (p.Ile202=) c.-297A>C (n.-297A>C) | |
| 1 | g.7803143A>G | CA567929 | PER3 | c.969A>G (p.Ile323Met) c.966A>G (p.Ile322Met) n.93A>G c.12A>G (p.Ile4Met) c.444A>G (p.Ile148Met) c.801A>G (p.Ile267Met) c.621A>G (p.Ile207Met) c.606A>G (p.Ile202Met) c.-297A>G (n.-297A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.7803143A>T | CA415834087 | PER3 | c.969A>T (p.Ile323=) c.966A>T (p.Ile322=) n.93A>T c.12A>T (p.Ile4=) c.444A>T (p.Ile148=) c.801A>T (p.Ile267=) c.621A>T (p.Ile207=) c.606A>T (p.Ile202=) c.-297A>T (n.-297A>T) | gnomAD v4 |
| 1 | g.7803144C>A | CA338134206 | PER3 | c.970C>A (p.His324Asn) c.967C>A (p.His323Asn) n.94C>A c.13C>A (p.His5Asn) c.445C>A (p.His149Asn) c.802C>A (p.His268Asn) c.622C>A (p.His208Asn) c.607C>A (p.His203Asn) c.-296C>A (n.-296C>A) | dbSNP gnomAD v4 |
| 1 | g.7803144C= | CA1152038741 | PER3 | c.970C= (p.His324=) c.967C= (p.His323=) n.94C= c.13C= (p.His5=) c.445C= (p.His149=) c.802C= (p.His268=) c.622C= (p.His208=) c.607C= (p.His203=) c.-296C= (n.-296C=) | |
| 1 | g.7803144C>G | CA338134210 | PER3 | c.970C>G (p.His324Asp) c.967C>G (p.His323Asp) n.94C>G c.13C>G (p.His5Asp) c.445C>G (p.His149Asp) c.802C>G (p.His268Asp) c.622C>G (p.His208Asp) c.607C>G (p.His203Asp) c.-296C>G (n.-296C>G) | |
| 1 | g.7803144C>T | CA338134226 | PER3 | c.970C>T (p.His324Tyr) c.967C>T (p.His323Tyr) n.94C>T c.13C>T (p.His5Tyr) c.445C>T (p.His149Tyr) c.802C>T (p.His268Tyr) c.622C>T (p.His208Tyr) c.607C>T (p.His203Tyr) c.-296C>T (n.-296C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.7803145A>C | CA338134227 | PER3 | c.971A>C (p.His324Pro) c.968A>C (p.His323Pro) n.95A>C c.14A>C (p.His5Pro) c.446A>C (p.His149Pro) c.803A>C (p.His268Pro) c.623A>C (p.His208Pro) c.608A>C (p.His203Pro) c.-295A>C (n.-295A>C) | |
| 1 | g.7803145A>G | CA338134228 | PER3 | c.971A>G (p.His324Arg) c.968A>G (p.His323Arg) n.95A>G c.14A>G (p.His5Arg) c.446A>G (p.His149Arg) c.803A>G (p.His268Arg) c.623A>G (p.His208Arg) c.608A>G (p.His203Arg) c.-295A>G (n.-295A>G) | |
| 1 | g.7803145A>T | CA338134229 | PER3 | c.971A>T (p.His324Leu) c.968A>T (p.His323Leu) n.95A>T c.14A>T (p.His5Leu) c.446A>T (p.His149Leu) c.803A>T (p.His268Leu) c.623A>T (p.His208Leu) c.608A>T (p.His203Leu) c.-295A>T (n.-295A>T) | |
| 1 | g.7803146C>A | CA338134230 | PER3 | c.972C>A (p.His324Gln) c.969C>A (p.His323Gln) n.96C>A c.15C>A (p.His5Gln) c.447C>A (p.His149Gln) c.804C>A (p.His268Gln) c.624C>A (p.His208Gln) c.609C>A (p.His203Gln) c.-294C>A (n.-294C>A) | gnomAD v4 |
| 1 | g.7803146C>G | CA338134231 | PER3 | c.972C>G (p.His324Gln) c.969C>G (p.His323Gln) n.96C>G c.15C>G (p.His5Gln) c.447C>G (p.His149Gln) c.804C>G (p.His268Gln) c.624C>G (p.His208Gln) c.609C>G (p.His203Gln) c.-294C>G (n.-294C>G) | |
| 1 | g.7803146C>T | CA415834089 | PER3 | c.972C>T (p.His324=) c.969C>T (p.His323=) n.96C>T c.15C>T (p.His5=) c.447C>T (p.His149=) c.804C>T (p.His268=) c.624C>T (p.His208=) c.609C>T (p.His203=) c.-294C>T (n.-294C>T) | gnomAD v4 |
| 1 | g.7803147C>A | CA338134232 | PER3 | c.973C>A (p.Gln325Lys) c.970C>A (p.Gln324Lys) n.97C>A c.16C>A (p.Gln6Lys) c.448C>A (p.Gln150Lys) c.805C>A (p.Gln269Lys) c.625C>A (p.Gln209Lys) c.610C>A (p.Gln204Lys) c.-293C>A (n.-293C>A) | gnomAD v4 |
| 1 | g.7803147C>G | CA338134248 | PER3 | c.973C>G (p.Gln325Glu) c.970C>G (p.Gln324Glu) n.97C>G c.16C>G (p.Gln6Glu) c.448C>G (p.Gln150Glu) c.805C>G (p.Gln269Glu) c.625C>G (p.Gln209Glu) c.610C>G (p.Gln204Glu) c.-293C>G (n.-293C>G) | |
| 1 | g.7803147C>T | CA338134259 | PER3 | c.973C>T (p.Gln325Ter) c.970C>T (p.Gln324Ter) n.97C>T c.16C>T (p.Gln6Ter) c.448C>T (p.Gln150Ter) c.805C>T (p.Gln269Ter) c.625C>T (p.Gln209Ter) c.610C>T (p.Gln204Ter) c.-293C>T (n.-293C>T) | |
| 1 | g.7803148A>C | CA338134262 | PER3 | c.974A>C (p.Gln325Pro) c.971A>C (p.Gln324Pro) n.98A>C c.17A>C (p.Gln6Pro) c.449A>C (p.Gln150Pro) c.806A>C (p.Gln269Pro) c.626A>C (p.Gln209Pro) c.611A>C (p.Gln204Pro) c.-292A>C (n.-292A>C) | gnomAD v4 |
| 1 | g.7803148A>G | CA338134270 | PER3 | c.974A>G (p.Gln325Arg) c.971A>G (p.Gln324Arg) n.98A>G c.17A>G (p.Gln6Arg) c.449A>G (p.Gln150Arg) c.806A>G (p.Gln269Arg) c.626A>G (p.Gln209Arg) c.611A>G (p.Gln204Arg) c.-292A>G (n.-292A>G) | |
| 1 | g.7803148A>T | CA338134268 | PER3 | c.974A>T (p.Gln325Leu) c.971A>T (p.Gln324Leu) n.98A>T c.17A>T (p.Gln6Leu) c.449A>T (p.Gln150Leu) c.806A>T (p.Gln269Leu) c.626A>T (p.Gln209Leu) c.611A>T (p.Gln204Leu) c.-292A>T (n.-292A>T) | |
| 1 | g.7803152del | CA2643043454 | PER3 | c.978del (p.Val327PhefsTer2) c.975del (p.Val326PhefsTer2) n.102del c.21del (p.Val8PhefsTer2) c.453del (p.Val152PhefsTer2) c.810del (p.Val271PhefsTer2) c.630del (p.Val211PhefsTer2) c.615del (p.Val206PhefsTer2) c.-288del (n.-288del) | gnomAD v4 |
| 1 | g.7803149A>C | CA338134278 | PER3 | c.975A>C (p.Gln325His) c.972A>C (p.Gln324His) n.99A>C c.18A>C (p.Gln6His) c.450A>C (p.Gln150His) c.807A>C (p.Gln269His) c.627A>C (p.Gln209His) c.612A>C (p.Gln204His) c.-291A>C (n.-291A>C) | |
| 1 | g.7803149A>G | CA415834090 | PER3 | c.975A>G (p.Gln325=) c.972A>G (p.Gln324=) n.99A>G c.18A>G (p.Gln6=) c.450A>G (p.Gln150=) c.807A>G (p.Gln269=) c.627A>G (p.Gln209=) c.612A>G (p.Gln204=) c.-291A>G (n.-291A>G) | |
| 1 | g.7803149A>T | CA338134279 | PER3 | c.975A>T (p.Gln325His) c.972A>T (p.Gln324His) n.99A>T c.18A>T (p.Gln6His) c.450A>T (p.Gln150His) c.807A>T (p.Gln269His) c.627A>T (p.Gln209His) c.612A>T (p.Gln204His) c.-291A>T (n.-291A>T) | |
| 1 | g.7803150A>C | CA338134280 | PER3 | c.976A>C (p.Lys326Gln) c.973A>C (p.Lys325Gln) n.100A>C c.19A>C (p.Lys7Gln) c.451A>C (p.Lys151Gln) c.808A>C (p.Lys270Gln) c.628A>C (p.Lys210Gln) c.613A>C (p.Lys205Gln) c.-290A>C (n.-290A>C) | |
| 1 | g.7803150A>G | CA338134284 | PER3 | c.976A>G (p.Lys326Glu) c.973A>G (p.Lys325Glu) n.100A>G c.19A>G (p.Lys7Glu) c.451A>G (p.Lys151Glu) c.808A>G (p.Lys270Glu) c.628A>G (p.Lys210Glu) c.613A>G (p.Lys205Glu) c.-290A>G (n.-290A>G) | |
| 1 | g.7803150A>T | CA338134292 | PER3 | c.976A>T (p.Lys326Ter) c.973A>T (p.Lys325Ter) n.100A>T c.19A>T (p.Lys7Ter) c.451A>T (p.Lys151Ter) c.808A>T (p.Lys270Ter) c.628A>T (p.Lys210Ter) c.613A>T (p.Lys205Ter) c.-290A>T (n.-290A>T) | |
| 1 | g.7803151A= | CA1152038742 | PER3 | c.977A= (p.Lys326=) c.974A= (p.Lys325=) n.101A= c.20A= (p.Lys7=) c.452A= (p.Lys151=) c.809A= (p.Lys270=) c.629A= (p.Lys210=) c.614A= (p.Lys205=) c.-289A= (n.-289A=) | |
| 1 | g.7803151A>C | CA338134296 | PER3 | c.977A>C (p.Lys326Thr) c.974A>C (p.Lys325Thr) n.101A>C c.20A>C (p.Lys7Thr) c.452A>C (p.Lys151Thr) c.809A>C (p.Lys270Thr) c.629A>C (p.Lys210Thr) c.614A>C (p.Lys205Thr) c.-289A>C (n.-289A>C) | |
| 1 | g.7803151A>G | CA338134304 | PER3 | c.977A>G (p.Lys326Arg) c.974A>G (p.Lys325Arg) n.101A>G c.20A>G (p.Lys7Arg) c.452A>G (p.Lys151Arg) c.809A>G (p.Lys270Arg) c.629A>G (p.Lys210Arg) c.614A>G (p.Lys205Arg) c.-289A>G (n.-289A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.7803151A>T | CA338134305 | PER3 | c.977A>T (p.Lys326Ile) c.974A>T (p.Lys325Ile) n.101A>T c.20A>T (p.Lys7Ile) c.452A>T (p.Lys151Ile) c.809A>T (p.Lys270Ile) c.629A>T (p.Lys210Ile) c.614A>T (p.Lys205Ile) c.-289A>T (n.-289A>T) |