| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.7803133T>A | CA338134034 | PER3 | c.959T>A (p.Met320Lys) c.956T>A (p.Met319Lys) n.83T>A c.2T>A (p.Met1Lys) c.434T>A (p.Met145Lys) c.791T>A (p.Met264Lys) c.611T>A (p.Met204Lys) c.596T>A (p.Met199Lys) c.-307T>A (n.-307T>A) | |
| 1 | g.7803133T>C | CA338134038 | PER3 | c.959T>C (p.Met320Thr) c.956T>C (p.Met319Thr) n.83T>C c.2T>C (p.Met1Thr) c.434T>C (p.Met145Thr) c.791T>C (p.Met264Thr) c.611T>C (p.Met204Thr) c.596T>C (p.Met199Thr) c.-307T>C (n.-307T>C) | |
| 1 | g.7803133T>G | CA338134042 | PER3 | c.959T>G (p.Met320Arg) c.956T>G (p.Met319Arg) n.83T>G c.2T>G (p.Met1Arg) c.434T>G (p.Met145Arg) c.791T>G (p.Met264Arg) c.611T>G (p.Met204Arg) c.596T>G (p.Met199Arg) c.-307T>G (n.-307T>G) | |
| 1 | g.7803134G>A | CA338134055 | PER3 | c.960G>A (p.Met320Ile) c.957G>A (p.Met319Ile) n.84G>A c.3G>A (p.Met1Ile) c.435G>A (p.Met145Ile) c.792G>A (p.Met264Ile) c.612G>A (p.Met204Ile) c.597G>A (p.Met199Ile) c.-306G>A (n.-306G>A) | gnomAD v4 |
| 1 | g.7803134G>C | CA338134075 | PER3 | c.960G>C (p.Met320Ile) c.957G>C (p.Met319Ile) n.84G>C c.3G>C (p.Met1Ile) c.435G>C (p.Met145Ile) c.792G>C (p.Met264Ile) c.612G>C (p.Met204Ile) c.597G>C (p.Met199Ile) c.-306G>C (n.-306G>C) | |
| 1 | g.7803134G>T | CA338134051 | PER3 | c.960G>T (p.Met320Ile) c.957G>T (p.Met319Ile) n.84G>T c.3G>T (p.Met1Ile) c.435G>T (p.Met145Ile) c.792G>T (p.Met264Ile) c.612G>T (p.Met204Ile) c.597G>T (p.Met199Ile) c.-306G>T (n.-306G>T) | |
| 1 | g.7803135G>A | CA338134081 | PER3 | c.961G>A (p.Val321Ile) c.958G>A (p.Val320Ile) n.85G>A c.4G>A (p.Val2Ile) c.436G>A (p.Val146Ile) c.793G>A (p.Val265Ile) c.613G>A (p.Val205Ile) c.598G>A (p.Val200Ile) c.-305G>A (n.-305G>A) | |
| 1 | g.7803135G>C | CA338134106 | PER3 | c.961G>C (p.Val321Leu) c.958G>C (p.Val320Leu) n.85G>C c.4G>C (p.Val2Leu) c.436G>C (p.Val146Leu) c.793G>C (p.Val265Leu) c.613G>C (p.Val205Leu) c.598G>C (p.Val200Leu) c.-305G>C (n.-305G>C) | |
| 1 | g.7803135G>T | CA338134111 | PER3 | c.961G>T (p.Val321Phe) c.958G>T (p.Val320Phe) n.85G>T c.4G>T (p.Val2Phe) c.436G>T (p.Val146Phe) c.793G>T (p.Val265Phe) c.613G>T (p.Val205Phe) c.598G>T (p.Val200Phe) c.-305G>T (n.-305G>T) | |
| 1 | g.7803136T>A | CA338134119 | PER3 | c.962T>A (p.Val321Asp) c.959T>A (p.Val320Asp) n.86T>A c.5T>A (p.Val2Asp) c.437T>A (p.Val146Asp) c.794T>A (p.Val265Asp) c.614T>A (p.Val205Asp) c.599T>A (p.Val200Asp) c.-304T>A (n.-304T>A) | dbSNP |
| 1 | g.7803136T>C | CA338134130 | PER3 | c.962T>C (p.Val321Ala) c.959T>C (p.Val320Ala) n.86T>C c.5T>C (p.Val2Ala) c.437T>C (p.Val146Ala) c.794T>C (p.Val265Ala) c.614T>C (p.Val205Ala) c.599T>C (p.Val200Ala) c.-304T>C (n.-304T>C) | |
| 1 | g.7803136T>G | CA338134141 | PER3 | c.962T>G (p.Val321Gly) c.959T>G (p.Val320Gly) n.86T>G c.5T>G (p.Val2Gly) c.437T>G (p.Val146Gly) c.794T>G (p.Val265Gly) c.614T>G (p.Val205Gly) c.599T>G (p.Val200Gly) c.-304T>G (n.-304T>G) | |
| 1 | g.7803136T= | CA1152038736 | PER3 | c.962T= (p.Val321=) c.959T= (p.Val320=) n.86T= c.5T= (p.Val2=) c.437T= (p.Val146=) c.794T= (p.Val265=) c.614T= (p.Val205=) c.599T= (p.Val200=) c.-304T= (n.-304T=) | |
| 1 | g.7803137T>A | CA415834081 | PER3 | c.963T>A (p.Val321=) c.960T>A (p.Val320=) n.87T>A c.6T>A (p.Val2=) c.438T>A (p.Val146=) c.795T>A (p.Val265=) c.615T>A (p.Val205=) c.600T>A (p.Val200=) c.-303T>A (n.-303T>A) | |
| 1 | g.7803137T>C | CA415834080 | PER3 | c.963T>C (p.Val321=) c.960T>C (p.Val320=) n.87T>C c.6T>C (p.Val2=) c.438T>C (p.Val146=) c.795T>C (p.Val265=) c.615T>C (p.Val205=) c.600T>C (p.Val200=) c.-303T>C (n.-303T>C) | |
| 1 | g.7803137T>G | CA415834079 | PER3 | c.963T>G (p.Val321=) c.960T>G (p.Val320=) n.87T>G c.6T>G (p.Val2=) c.438T>G (p.Val146=) c.795T>G (p.Val265=) c.615T>G (p.Val205=) c.600T>G (p.Val200=) c.-303T>G (n.-303T>G) | |
| 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 |