Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.8355524T>A | CA338168218 | RERE | c.2900A>T (p.His967Leu) c.4562A>T (p.His1521Leu) c.3758A>T (p.His1253Leu) c.1616A>T (p.His539Leu) c.530A>T (p.His177Leu) c.4436A>T (p.His1479Leu) | |
1 | g.8355524T>C | CA338168217 | RERE | c.2900A>G (p.His967Arg) c.4562A>G (p.His1521Arg) c.3758A>G (p.His1253Arg) c.1616A>G (p.His539Arg) c.530A>G (p.His177Arg) c.4436A>G (p.His1479Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.8355524T>G | CA338168216 | RERE | c.2900A>C (p.His967Pro) c.4562A>C (p.His1521Pro) c.3758A>C (p.His1253Pro) c.1616A>C (p.His539Pro) c.530A>C (p.His177Pro) c.4436A>C (p.His1479Pro) | |
1 | g.8355524T= | CA1152318870 | RERE | c.2900A= (p.His967=) c.4562A= (p.His1521=) c.3758A= (p.His1253=) c.1616A= (p.His539=) c.530A= (p.His177=) c.4436A= (p.His1479=) | |
1 | g.8355525G>A | CA338168219 | RERE | c.2899C>T (p.His967Tyr) c.4561C>T (p.His1521Tyr) c.3757C>T (p.His1253Tyr) c.1615C>T (p.His539Tyr) c.529C>T (p.His177Tyr) c.4435C>T (p.His1479Tyr) | gnomAD v4 |
1 | g.8355525G>C | CA338168220 | RERE | c.2899C>G (p.His967Asp) c.4561C>G (p.His1521Asp) c.3757C>G (p.His1253Asp) c.1615C>G (p.His539Asp) c.529C>G (p.His177Asp) c.4435C>G (p.His1479Asp) | |
1 | g.8355525G>T | CA338168221 | RERE | c.2899C>A (p.His967Asn) c.4561C>A (p.His1521Asn) c.3757C>A (p.His1253Asn) c.1615C>A (p.His539Asn) c.529C>A (p.His177Asn) c.4435C>A (p.His1479Asn) | |
1 | g.8355526C>A | CA338168222 | RERE | c.2898G>T (p.Met966Ile) c.4560G>T (p.Met1520Ile) c.3756G>T (p.Met1252Ile) c.1614G>T (p.Met538Ile) c.528G>T (p.Met176Ile) c.4434G>T (p.Met1478Ile) | |
1 | g.8355526C>G | CA338168223 | RERE | c.2898G>C (p.Met966Ile) c.4560G>C (p.Met1520Ile) c.3756G>C (p.Met1252Ile) c.1614G>C (p.Met538Ile) c.528G>C (p.Met176Ile) c.4434G>C (p.Met1478Ile) | |
1 | g.8355526C>T | CA338168224 | RERE | c.2898G>A (p.Met966Ile) c.4560G>A (p.Met1520Ile) c.3756G>A (p.Met1252Ile) c.1614G>A (p.Met538Ile) c.528G>A (p.Met176Ile) c.4434G>A (p.Met1478Ile) | |
1 | g.8355527A>C | CA338168225 | RERE | c.2897T>G (p.Met966Arg) c.4559T>G (p.Met1520Arg) c.3755T>G (p.Met1252Arg) c.1613T>G (p.Met538Arg) c.527T>G (p.Met176Arg) c.4433T>G (p.Met1478Arg) | |
1 | g.8355527A>G | CA338168226 | RERE | c.2897T>C (p.Met966Thr) c.4559T>C (p.Met1520Thr) c.3755T>C (p.Met1252Thr) c.1613T>C (p.Met538Thr) c.527T>C (p.Met176Thr) c.4433T>C (p.Met1478Thr) | |
1 | g.8355527A>T | CA338168227 | RERE | c.2897T>A (p.Met966Lys) c.4559T>A (p.Met1520Lys) c.3755T>A (p.Met1252Lys) c.1613T>A (p.Met538Lys) c.527T>A (p.Met176Lys) c.4433T>A (p.Met1478Lys) | |
1 | g.8355527dup | CA2643072836 | RERE | c.2897dup (p.Met966IlefsTer?) c.4559dup (p.Met1520IlefsTer?) c.3755dup (p.Met1252IlefsTer?) c.1613dup (p.Met538IlefsTer?) c.527dup (p.Met176IlefsTer?) c.4433dup (p.Met1478IlefsTer?) | gnomAD v4 |
1 | g.8355528T>A | CA338168228 | RERE | c.2896A>T (p.Met966Leu) c.4558A>T (p.Met1520Leu) c.3754A>T (p.Met1252Leu) c.1612A>T (p.Met538Leu) c.526A>T (p.Met176Leu) c.4432A>T (p.Met1478Leu) | |
1 | g.8355528T>C | CA338168229 | RERE | c.2896A>G (p.Met966Val) c.4558A>G (p.Met1520Val) c.3754A>G (p.Met1252Val) c.1612A>G (p.Met538Val) c.526A>G (p.Met176Val) c.4432A>G (p.Met1478Val) | dbSNP gnomAD v4 |
1 | g.8355528T>G | CA338168230 | RERE | c.2896A>C (p.Met966Leu) c.4558A>C (p.Met1520Leu) c.3754A>C (p.Met1252Leu) c.1612A>C (p.Met538Leu) c.526A>C (p.Met176Leu) c.4432A>C (p.Met1478Leu) | |
1 | g.8355528T= | CA1152318871 | RERE | c.2896A= (p.Met966=) c.4558A= (p.Met1520=) c.3754A= (p.Met1252=) c.1612A= (p.Met538=) c.526A= (p.Met176=) c.4432A= (p.Met1478=) | |
1 | g.8355529G>A | CA415842012 | RERE | c.2895C>T (p.Ala965=) c.4557C>T (p.Ala1519=) c.3753C>T (p.Ala1251=) c.1611C>T (p.Ala537=) c.525C>T (p.Ala175=) c.4431C>T (p.Ala1477=) | |
1 | g.8355529G>C | CA415842014 | RERE | c.2895C>G (p.Ala965=) c.4557C>G (p.Ala1519=) c.3753C>G (p.Ala1251=) c.1611C>G (p.Ala537=) c.525C>G (p.Ala175=) c.4431C>G (p.Ala1477=) | |
1 | g.8355529G>T | CA415842010 | RERE | c.2895C>A (p.Ala965=) c.4557C>A (p.Ala1519=) c.3753C>A (p.Ala1251=) c.1611C>A (p.Ala537=) c.525C>A (p.Ala175=) c.4431C>A (p.Ala1477=) | gnomAD v4 |
1 | g.8355530G>A | CA338168233 | RERE | c.2894C>T (p.Ala965Val) c.4556C>T (p.Ala1519Val) c.3752C>T (p.Ala1251Val) c.1610C>T (p.Ala537Val) c.524C>T (p.Ala175Val) c.4430C>T (p.Ala1477Val) | gnomAD v4 COSMIC |
1 | g.8355530G>C | CA338168232 | RERE | c.2894C>G (p.Ala965Gly) c.4556C>G (p.Ala1519Gly) c.3752C>G (p.Ala1251Gly) c.1610C>G (p.Ala537Gly) c.524C>G (p.Ala175Gly) c.4430C>G (p.Ala1477Gly) | |
1 | g.8355530G>T | CA338168231 | RERE | c.2894C>A (p.Ala965Asp) c.4556C>A (p.Ala1519Asp) c.3752C>A (p.Ala1251Asp) c.1610C>A (p.Ala537Asp) c.524C>A (p.Ala175Asp) c.4430C>A (p.Ala1477Asp) | gnomAD v4 |
1 | g.8355531C>A | CA338168234 | RERE | c.2893G>T (p.Ala965Ser) c.4555G>T (p.Ala1519Ser) c.3751G>T (p.Ala1251Ser) c.1609G>T (p.Ala537Ser) c.523G>T (p.Ala175Ser) c.4429G>T (p.Ala1477Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8355531C= | CA1146261592 | RERE | c.2893G= (p.Ala965=) c.4555G= (p.Ala1519=) c.3751G= (p.Ala1251=) c.1609G= (p.Ala537=) c.523G= (p.Ala175=) c.4429G= (p.Ala1477=) | |
1 | g.8355531C>G | CA338168235 | RERE | c.2893G>C (p.Ala965Pro) c.4555G>C (p.Ala1519Pro) c.3751G>C (p.Ala1251Pro) c.1609G>C (p.Ala537Pro) c.523G>C (p.Ala175Pro) c.4429G>C (p.Ala1477Pro) | |
1 | g.8355531C>T | CA570741 | RERE | c.2893G>A (p.Ala965Thr) c.4555G>A (p.Ala1519Thr) c.3751G>A (p.Ala1251Thr) c.1609G>A (p.Ala537Thr) c.523G>A (p.Ala175Thr) c.4429G>A (p.Ala1477Thr) | dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.8355532C>A | CA570742 | RERE | c.2892G>T (p.Gln964His) c.4554G>T (p.Gln1518His) c.3750G>T (p.Gln1250His) c.1608G>T (p.Gln536His) c.522G>T (p.Gln174His) c.4428G>T (p.Gln1476His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8355532C= | CA1152318872 | RERE | c.2892G= (p.Gln964=) c.4554G= (p.Gln1518=) c.3750G= (p.Gln1250=) c.1608G= (p.Gln536=) c.522G= (p.Gln174=) c.4428G= (p.Gln1476=) | |
1 | g.8355532C>G | CA338168236 | RERE | c.2892G>C (p.Gln964His) c.4554G>C (p.Gln1518His) c.3750G>C (p.Gln1250His) c.1608G>C (p.Gln536His) c.522G>C (p.Gln174His) c.4428G>C (p.Gln1476His) | |
1 | g.8355532C>T | CA17687080 | RERE | c.2892G>A (p.Gln964=) c.4554G>A (p.Gln1518=) c.3750G>A (p.Gln1250=) c.1608G>A (p.Gln536=) c.522G>A (p.Gln174=) c.4428G>A (p.Gln1476=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8355533T>A | CA570743 | RERE | c.2891A>T (p.Gln964Leu) c.4553A>T (p.Gln1518Leu) c.3749A>T (p.Gln1250Leu) c.1607A>T (p.Gln536Leu) c.521A>T (p.Gln174Leu) c.4427A>T (p.Gln1476Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8355533T>C | CA338168237 | RERE | c.2891A>G (p.Gln964Arg) c.4553A>G (p.Gln1518Arg) c.3749A>G (p.Gln1250Arg) c.1607A>G (p.Gln536Arg) c.521A>G (p.Gln174Arg) c.4427A>G (p.Gln1476Arg) | |
1 | g.8355533T>G | CA338168238 | RERE | c.2891A>C (p.Gln964Pro) c.4553A>C (p.Gln1518Pro) c.3749A>C (p.Gln1250Pro) c.1607A>C (p.Gln536Pro) c.521A>C (p.Gln174Pro) c.4427A>C (p.Gln1476Pro) | gnomAD v4 |
1 | g.8355533T= | CA1152318873 | RERE | c.2891A= (p.Gln964=) c.4553A= (p.Gln1518=) c.3749A= (p.Gln1250=) c.1607A= (p.Gln536=) c.521A= (p.Gln174=) c.4427A= (p.Gln1476=) | |
1 | g.8355534G>A | CA338168239 | RERE | c.2890C>T (p.Gln964Ter) c.4552C>T (p.Gln1518Ter) c.3748C>T (p.Gln1250Ter) c.1606C>T (p.Gln536Ter) c.520C>T (p.Gln174Ter) c.4426C>T (p.Gln1476Ter) | gnomAD v4 |
1 | g.8355534G>C | CA338168240 | RERE | c.2890C>G (p.Gln964Glu) c.4552C>G (p.Gln1518Glu) c.3748C>G (p.Gln1250Glu) c.1606C>G (p.Gln536Glu) c.520C>G (p.Gln174Glu) c.4426C>G (p.Gln1476Glu) | |
1 | g.8355534G>T | CA338168241 | RERE | c.2890C>A (p.Gln964Lys) c.4552C>A (p.Gln1518Lys) c.3748C>A (p.Gln1250Lys) c.1606C>A (p.Gln536Lys) c.520C>A (p.Gln174Lys) c.4426C>A (p.Gln1476Lys) | |
1 | g.8355535C>A | CA17687131 | RERE | c.2889G>T (p.Leu963=) c.4551G>T (p.Leu1517=) c.3747G>T (p.Leu1249=) c.1605G>T (p.Leu535=) c.519G>T (p.Leu173=) c.4425G>T (p.Leu1475=) | dbSNP |
1 | g.8355535C= | CA1152318874 | RERE | c.2889G= (p.Leu963=) c.4551G= (p.Leu1517=) c.3747G= (p.Leu1249=) c.1605G= (p.Leu535=) c.519G= (p.Leu173=) c.4425G= (p.Leu1475=) | |
1 | g.8355535C>G | CA415842036 | RERE | c.2889G>C (p.Leu963=) c.4551G>C (p.Leu1517=) c.3747G>C (p.Leu1249=) c.1605G>C (p.Leu535=) c.519G>C (p.Leu173=) c.4425G>C (p.Leu1475=) | |
1 | g.8355535C>T | CA415842038 | RERE | c.2889G>A (p.Leu963=) c.4551G>A (p.Leu1517=) c.3747G>A (p.Leu1249=) c.1605G>A (p.Leu535=) c.519G>A (p.Leu173=) c.4425G>A (p.Leu1475=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8355536A= | CA1152318875 | RERE | c.2888T= (p.Leu963=) c.4550T= (p.Leu1517=) c.3746T= (p.Leu1249=) c.1604T= (p.Leu535=) c.518T= (p.Leu173=) c.4424T= (p.Leu1475=) | |
1 | g.8355536A>C | CA338168242 | RERE | c.2888T>G (p.Leu963Arg) c.4550T>G (p.Leu1517Arg) c.3746T>G (p.Leu1249Arg) c.1604T>G (p.Leu535Arg) c.518T>G (p.Leu173Arg) c.4424T>G (p.Leu1475Arg) | |
1 | g.8355536A>G | CA338168243 | RERE | c.2888T>C (p.Leu963Pro) c.4550T>C (p.Leu1517Pro) c.3746T>C (p.Leu1249Pro) c.1604T>C (p.Leu535Pro) c.518T>C (p.Leu173Pro) c.4424T>C (p.Leu1475Pro) | gnomAD v4 |
1 | g.8355536A>T | CA338168244 | RERE | c.2888T>A (p.Leu963Gln) c.4550T>A (p.Leu1517Gln) c.3746T>A (p.Leu1249Gln) c.1604T>A (p.Leu535Gln) c.518T>A (p.Leu173Gln) c.4424T>A (p.Leu1475Gln) | ClinVar dbSNP |
1 | g.8355537G>A | CA415842043 | RERE | c.2887C>T (p.Leu963=) c.4549C>T (p.Leu1517=) c.3745C>T (p.Leu1249=) c.1603C>T (p.Leu535=) c.517C>T (p.Leu173=) c.4423C>T (p.Leu1475=) | dbSNP |
1 | g.8355537G>C | CA338168245 | RERE | c.2887C>G (p.Leu963Val) c.4549C>G (p.Leu1517Val) c.3745C>G (p.Leu1249Val) c.1603C>G (p.Leu535Val) c.517C>G (p.Leu173Val) c.4423C>G (p.Leu1475Val) | |
1 | g.8355537G= | CA1152318876 | RERE | c.2887C= (p.Leu963=) c.4549C= (p.Leu1517=) c.3745C= (p.Leu1249=) c.1603C= (p.Leu535=) c.517C= (p.Leu173=) c.4423C= (p.Leu1475=) | |
1 | g.8355537G>T | CA338168246 | RERE | c.2887C>A (p.Leu963Met) c.4549C>A (p.Leu1517Met) c.3745C>A (p.Leu1249Met) c.1603C>A (p.Leu535Met) c.517C>A (p.Leu173Met) c.4423C>A (p.Leu1475Met) | |
1 | g.8355538C>A | CA338168247 | RERE | c.2886G>T (p.Gln962His) c.4548G>T (p.Gln1516His) c.3744G>T (p.Gln1248His) c.1602G>T (p.Gln534His) c.516G>T (p.Gln172His) c.4422G>T (p.Gln1474His) | |
1 | g.8355538C>G | CA338168248 | RERE | c.2886G>C (p.Gln962His) c.4548G>C (p.Gln1516His) c.3744G>C (p.Gln1248His) c.1602G>C (p.Gln534His) c.516G>C (p.Gln172His) c.4422G>C (p.Gln1474His) | |
1 | g.8355538C>T | CA415842047 | RERE | c.2886G>A (p.Gln962=) c.4548G>A (p.Gln1516=) c.3744G>A (p.Gln1248=) c.1602G>A (p.Gln534=) c.516G>A (p.Gln172=) c.4422G>A (p.Gln1474=) | gnomAD v4 |
1 | g.8355539T>A | CA338168249 | RERE | c.2885A>T (p.Gln962Leu) c.4547A>T (p.Gln1516Leu) c.3743A>T (p.Gln1248Leu) c.1601A>T (p.Gln534Leu) c.515A>T (p.Gln172Leu) c.4421A>T (p.Gln1474Leu) | |
1 | g.8355539T>C | CA338168250 | RERE | c.2885A>G (p.Gln962Arg) c.4547A>G (p.Gln1516Arg) c.3743A>G (p.Gln1248Arg) c.1601A>G (p.Gln534Arg) c.515A>G (p.Gln172Arg) c.4421A>G (p.Gln1474Arg) | |
1 | g.8355539T>G | CA338168251 | RERE | c.2885A>C (p.Gln962Pro) c.4547A>C (p.Gln1516Pro) c.3743A>C (p.Gln1248Pro) c.1601A>C (p.Gln534Pro) c.515A>C (p.Gln172Pro) c.4421A>C (p.Gln1474Pro) | gnomAD v4 |
1 | g.8355540G>A | CA338168252 | RERE | c.2884C>T (p.Gln962Ter) c.4546C>T (p.Gln1516Ter) c.3742C>T (p.Gln1248Ter) c.1600C>T (p.Gln534Ter) c.514C>T (p.Gln172Ter) c.4420C>T (p.Gln1474Ter) | |
1 | g.8355540G>C | CA338168253 | RERE | c.2884C>G (p.Gln962Glu) c.4546C>G (p.Gln1516Glu) c.3742C>G (p.Gln1248Glu) c.1600C>G (p.Gln534Glu) c.514C>G (p.Gln172Glu) c.4420C>G (p.Gln1474Glu) | |
1 | g.8355540G>T | CA338168254 | RERE | c.2884C>A (p.Gln962Lys) c.4546C>A (p.Gln1516Lys) c.3742C>A (p.Gln1248Lys) c.1600C>A (p.Gln534Lys) c.514C>A (p.Gln172Lys) c.4420C>A (p.Gln1474Lys) | gnomAD v4 |
1 | g.8355541G>A | CA570744 | RERE | c.2883C>T (p.His961=) c.4545C>T (p.His1515=) c.3741C>T (p.His1247=) c.1599C>T (p.His533=) c.513C>T (p.His171=) c.4419C>T (p.His1473=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8355541G>C | CA338168255 | RERE | c.2883C>G (p.His961Gln) c.4545C>G (p.His1515Gln) c.3741C>G (p.His1247Gln) c.1599C>G (p.His533Gln) c.513C>G (p.His171Gln) c.4419C>G (p.His1473Gln) | |
1 | g.8355541G= | CA1152318877 | RERE | c.2883C= (p.His961=) c.4545C= (p.His1515=) c.3741C= (p.His1247=) c.1599C= (p.His533=) c.513C= (p.His171=) c.4419C= (p.His1473=) | |
1 | g.8355541G>T | CA338168256 | RERE | c.2883C>A (p.His961Gln) c.4545C>A (p.His1515Gln) c.3741C>A (p.His1247Gln) c.1599C>A (p.His533Gln) c.513C>A (p.His171Gln) c.4419C>A (p.His1473Gln) | gnomAD v4 |
1 | g.8355542T>A | CA338168259 | RERE | c.2882A>T (p.His961Leu) c.4544A>T (p.His1515Leu) c.3740A>T (p.His1247Leu) c.1598A>T (p.His533Leu) c.512A>T (p.His171Leu) c.4418A>T (p.His1473Leu) | |
1 | g.8355542T>C | CA338168258 | RERE | c.2882A>G (p.His961Arg) c.4544A>G (p.His1515Arg) c.3740A>G (p.His1247Arg) c.1598A>G (p.His533Arg) c.512A>G (p.His171Arg) c.4418A>G (p.His1473Arg) | |
1 | g.8355542T>G | CA338168257 | RERE | c.2882A>C (p.His961Pro) c.4544A>C (p.His1515Pro) c.3740A>C (p.His1247Pro) c.1598A>C (p.His533Pro) c.512A>C (p.His171Pro) c.4418A>C (p.His1473Pro) | gnomAD v4 |
1 | g.8355543G>A | CA338168260 | RERE | c.2881C>T (p.His961Tyr) c.4543C>T (p.His1515Tyr) c.3739C>T (p.His1247Tyr) c.1597C>T (p.His533Tyr) c.511C>T (p.His171Tyr) c.4417C>T (p.His1473Tyr) | |
1 | g.8355543G>C | CA338168262 | RERE | c.2881C>G (p.His961Asp) c.4543C>G (p.His1515Asp) c.3739C>G (p.His1247Asp) c.1597C>G (p.His533Asp) c.511C>G (p.His171Asp) c.4417C>G (p.His1473Asp) | |
1 | g.8355543G>T | CA338168261 | RERE | c.2881C>A (p.His961Asn) c.4543C>A (p.His1515Asn) c.3739C>A (p.His1247Asn) c.1597C>A (p.His533Asn) c.511C>A (p.His171Asn) c.4417C>A (p.His1473Asn) | |
1 | g.8355544G>A | CA415842066 | RERE | c.2880C>T (p.Ala960=) c.4542C>T (p.Ala1514=) c.3738C>T (p.Ala1246=) c.1596C>T (p.Ala532=) c.510C>T (p.Ala170=) c.4416C>T (p.Ala1472=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8355544G>C | CA415842067 | RERE | c.2880C>G (p.Ala960=) c.4542C>G (p.Ala1514=) c.3738C>G (p.Ala1246=) c.1596C>G (p.Ala532=) c.510C>G (p.Ala170=) c.4416C>G (p.Ala1472=) | gnomAD v4 |
1 | g.8355544G= | CA1152318878 | RERE | c.2880C= (p.Ala960=) c.4542C= (p.Ala1514=) c.3738C= (p.Ala1246=) c.1596C= (p.Ala532=) c.510C= (p.Ala170=) c.4416C= (p.Ala1472=) | |
1 | g.8355544G>T | CA415842069 | RERE | c.2880C>A (p.Ala960=) c.4542C>A (p.Ala1514=) c.3738C>A (p.Ala1246=) c.1596C>A (p.Ala532=) c.510C>A (p.Ala170=) c.4416C>A (p.Ala1472=) | |
1 | g.8355545G>A | CA338168263 | RERE | c.2879C>T (p.Ala960Val) c.4541C>T (p.Ala1514Val) c.3737C>T (p.Ala1246Val) c.1595C>T (p.Ala532Val) c.509C>T (p.Ala170Val) c.4415C>T (p.Ala1472Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8355545G>C | CA338168264 | RERE | c.2879C>G (p.Ala960Gly) c.4541C>G (p.Ala1514Gly) c.3737C>G (p.Ala1246Gly) c.1595C>G (p.Ala532Gly) c.509C>G (p.Ala170Gly) c.4415C>G (p.Ala1472Gly) | |
1 | g.8355545G= | CA1152318879 | RERE | c.2879C= (p.Ala960=) c.4541C= (p.Ala1514=) c.3737C= (p.Ala1246=) c.1595C= (p.Ala532=) c.509C= (p.Ala170=) c.4415C= (p.Ala1472=) | |
1 | g.8355545G>T | CA338168265 | RERE | c.2879C>A (p.Ala960Asp) c.4541C>A (p.Ala1514Asp) c.3737C>A (p.Ala1246Asp) c.1595C>A (p.Ala532Asp) c.509C>A (p.Ala170Asp) c.4415C>A (p.Ala1472Asp) | |
1 | g.8355546C>A | CA338168266 | RERE | c.2878G>T (p.Ala960Ser) c.4540G>T (p.Ala1514Ser) c.3736G>T (p.Ala1246Ser) c.1594G>T (p.Ala532Ser) c.508G>T (p.Ala170Ser) c.4414G>T (p.Ala1472Ser) | gnomAD v4 |
1 | g.8355546C>G | CA338168267 | RERE | c.2878G>C (p.Ala960Pro) c.4540G>C (p.Ala1514Pro) c.3736G>C (p.Ala1246Pro) c.1594G>C (p.Ala532Pro) c.508G>C (p.Ala170Pro) c.4414G>C (p.Ala1472Pro) | |
1 | g.8355546C>T | CA338168268 | RERE | c.2878G>A (p.Ala960Thr) c.4540G>A (p.Ala1514Thr) c.3736G>A (p.Ala1246Thr) c.1594G>A (p.Ala532Thr) c.508G>A (p.Ala170Thr) c.4414G>A (p.Ala1472Thr) | gnomAD v4 |
1 | g.8355547T>A | CA415842075 | RERE | c.2877A>T (p.Ala959=) c.4539A>T (p.Ala1513=) c.3735A>T (p.Ala1245=) c.1593A>T (p.Ala531=) c.507A>T (p.Ala169=) c.4413A>T (p.Ala1471=) | |
1 | g.8355547T>C | CA415842076 | RERE | c.2877A>G (p.Ala959=) c.4539A>G (p.Ala1513=) c.3735A>G (p.Ala1245=) c.1593A>G (p.Ala531=) c.507A>G (p.Ala169=) c.4413A>G (p.Ala1471=) | gnomAD v4 |
1 | g.8355547T>G | CA415842077 | RERE | c.2877A>C (p.Ala959=) c.4539A>C (p.Ala1513=) c.3735A>C (p.Ala1245=) c.1593A>C (p.Ala531=) c.507A>C (p.Ala169=) c.4413A>C (p.Ala1471=) | gnomAD v4 |
1 | g.8355548G>A | CA338168271 | RERE | c.2876C>T (p.Ala959Val) c.4538C>T (p.Ala1513Val) c.3734C>T (p.Ala1245Val) c.1592C>T (p.Ala531Val) c.506C>T (p.Ala169Val) c.4412C>T (p.Ala1471Val) | ClinVar gnomAD v4 |
1 | g.8355548G>C | CA338168270 | RERE | c.2876C>G (p.Ala959Gly) c.4538C>G (p.Ala1513Gly) c.3734C>G (p.Ala1245Gly) c.1592C>G (p.Ala531Gly) c.506C>G (p.Ala169Gly) c.4412C>G (p.Ala1471Gly) | |
1 | g.8355548G>T | CA338168269 | RERE | c.2876C>A (p.Ala959Glu) c.4538C>A (p.Ala1513Glu) c.3734C>A (p.Ala1245Glu) c.1592C>A (p.Ala531Glu) c.506C>A (p.Ala169Glu) c.4412C>A (p.Ala1471Glu) | gnomAD v4 |
1 | g.8355549C>A | CA338168272 | RERE | c.2875G>T (p.Ala959Ser) c.4537G>T (p.Ala1513Ser) c.3733G>T (p.Ala1245Ser) c.1591G>T (p.Ala531Ser) c.505G>T (p.Ala169Ser) c.4411G>T (p.Ala1471Ser) | gnomAD v4 |
1 | g.8355549C>G | CA338168273 | RERE | c.2875G>C (p.Ala959Pro) c.4537G>C (p.Ala1513Pro) c.3733G>C (p.Ala1245Pro) c.1591G>C (p.Ala531Pro) c.505G>C (p.Ala169Pro) c.4411G>C (p.Ala1471Pro) | gnomAD v4 |
1 | g.8355549C>T | CA338168274 | RERE | c.2875G>A (p.Ala959Thr) c.4537G>A (p.Ala1513Thr) c.3733G>A (p.Ala1245Thr) c.1591G>A (p.Ala531Thr) c.505G>A (p.Ala169Thr) c.4411G>A (p.Ala1471Thr) | gnomAD v4 |
1 | g.8355550T>A | CA415842078 | RERE | c.2874A>T (p.Ser958=) c.4536A>T (p.Ser1512=) c.3732A>T (p.Ser1244=) c.1590A>T (p.Ser530=) c.504A>T (p.Ser168=) c.4410A>T (p.Ser1470=) | |
1 | g.8355550T>C | CA415842080 | RERE | c.2874A>G (p.Ser958=) c.4536A>G (p.Ser1512=) c.3732A>G (p.Ser1244=) c.1590A>G (p.Ser530=) c.504A>G (p.Ser168=) c.4410A>G (p.Ser1470=) | |
1 | g.8355550T>G | CA415842079 | RERE | c.2874A>C (p.Ser958=) c.4536A>C (p.Ser1512=) c.3732A>C (p.Ser1244=) c.1590A>C (p.Ser530=) c.504A>C (p.Ser168=) c.4410A>C (p.Ser1470=) | gnomAD v3 gnomAD v4 |
1 | g.8355551G>A | CA338168275 | RERE | c.2873C>T (p.Ser958Leu) c.4535C>T (p.Ser1512Leu) c.3731C>T (p.Ser1244Leu) c.1589C>T (p.Ser530Leu) c.503C>T (p.Ser168Leu) c.4409C>T (p.Ser1470Leu) | COSMIC |
1 | g.8355551G>C | CA338168276 | RERE | c.2873C>G (p.Ser958Ter) c.4535C>G (p.Ser1512Ter) c.3731C>G (p.Ser1244Ter) c.1589C>G (p.Ser530Ter) c.503C>G (p.Ser168Ter) c.4409C>G (p.Ser1470Ter) | |
1 | g.8355551G>T | CA338168277 | RERE | c.2873C>A (p.Ser958Ter) c.4535C>A (p.Ser1512Ter) c.3731C>A (p.Ser1244Ter) c.1589C>A (p.Ser530Ter) c.503C>A (p.Ser168Ter) c.4409C>A (p.Ser1470Ter) | gnomAD v4 |
1 | g.8355552A= | CA1152318880 | RERE | c.2872T= (p.Ser958=) c.4534T= (p.Ser1512=) c.3730T= (p.Ser1244=) c.1588T= (p.Ser530=) c.502T= (p.Ser168=) c.4408T= (p.Ser1470=) | |
1 | g.8355552A>C | CA338168278 | RERE | c.2872T>G (p.Ser958Ala) c.4534T>G (p.Ser1512Ala) c.3730T>G (p.Ser1244Ala) c.1588T>G (p.Ser530Ala) c.502T>G (p.Ser168Ala) c.4408T>G (p.Ser1470Ala) | |
1 | g.8355552A>G | CA570745 | RERE | c.2872T>C (p.Ser958Pro) c.4534T>C (p.Ser1512Pro) c.3730T>C (p.Ser1244Pro) c.1588T>C (p.Ser530Pro) c.502T>C (p.Ser168Pro) c.4408T>C (p.Ser1470Pro) | dbSNP ExAC gnomAD v2 COSMIC |
1 | g.8355552A>T | CA338168279 | RERE | c.2872T>A (p.Ser958Thr) c.4534T>A (p.Ser1512Thr) c.3730T>A (p.Ser1244Thr) c.1588T>A (p.Ser530Thr) c.502T>A (p.Ser168Thr) c.4408T>A (p.Ser1470Thr) | |
1 | g.8355553C>A | CA338168280 | RERE | c.2871G>T (p.Met957Ile) c.4533G>T (p.Met1511Ile) c.3729G>T (p.Met1243Ile) c.1587G>T (p.Met529Ile) c.501G>T (p.Met167Ile) c.4407G>T (p.Met1469Ile) | gnomAD v4 |
1 | g.8355553C= | CA1152318881 | RERE | c.2871G= (p.Met957=) c.4533G= (p.Met1511=) c.3729G= (p.Met1243=) c.1587G= (p.Met529=) c.501G= (p.Met167=) c.4407G= (p.Met1469=) | |
1 | g.8355553C>G | CA338168281 | RERE | c.2871G>C (p.Met957Ile) c.4533G>C (p.Met1511Ile) c.3729G>C (p.Met1243Ile) c.1587G>C (p.Met529Ile) c.501G>C (p.Met167Ile) c.4407G>C (p.Met1469Ile) | gnomAD v4 |
1 | g.8355553C>T | CA570746 | RERE | c.2871G>A (p.Met957Ile) c.4533G>A (p.Met1511Ile) c.3729G>A (p.Met1243Ile) c.1587G>A (p.Met529Ile) c.501G>A (p.Met167Ile) c.4407G>A (p.Met1469Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8355554A>C | CA338168282 | RERE | c.2870T>G (p.Met957Arg) c.4532T>G (p.Met1511Arg) c.3728T>G (p.Met1243Arg) c.1586T>G (p.Met529Arg) c.500T>G (p.Met167Arg) c.4406T>G (p.Met1469Arg) | |
1 | g.8355554A>G | CA338168283 | RERE | c.2870T>C (p.Met957Thr) c.4532T>C (p.Met1511Thr) c.3728T>C (p.Met1243Thr) c.1586T>C (p.Met529Thr) c.500T>C (p.Met167Thr) c.4406T>C (p.Met1469Thr) | ClinVar gnomAD v4 |
1 | g.8355554A>T | CA338168284 | RERE | c.2870T>A (p.Met957Lys) c.4532T>A (p.Met1511Lys) c.3728T>A (p.Met1243Lys) c.1586T>A (p.Met529Lys) c.500T>A (p.Met167Lys) c.4406T>A (p.Met1469Lys) | gnomAD v4 |
1 | g.8355555T>A | CA338168285 | RERE | c.2869A>T (p.Met957Leu) c.4531A>T (p.Met1511Leu) c.3727A>T (p.Met1243Leu) c.1585A>T (p.Met529Leu) c.499A>T (p.Met167Leu) c.4405A>T (p.Met1469Leu) | gnomAD v4 |
1 | g.8355555T>C | CA338168286 | RERE | c.2869A>G (p.Met957Val) c.4531A>G (p.Met1511Val) c.3727A>G (p.Met1243Val) c.1585A>G (p.Met529Val) c.499A>G (p.Met167Val) c.4405A>G (p.Met1469Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8355555T>G | CA338168287 | RERE | c.2869A>C (p.Met957Leu) c.4531A>C (p.Met1511Leu) c.3727A>C (p.Met1243Leu) c.1585A>C (p.Met529Leu) c.499A>C (p.Met167Leu) c.4405A>C (p.Met1469Leu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8355555T= | CA1152318882 | RERE | c.2869A= (p.Met957=) c.4531A= (p.Met1511=) c.3727A= (p.Met1243=) c.1585A= (p.Met529=) c.499A= (p.Met167=) c.4405A= (p.Met1469=) | |
1 | g.8355556G>A | CA415842082 | RERE | c.2868C>T (p.Pro956=) c.4530C>T (p.Pro1510=) c.3726C>T (p.Pro1242=) c.1584C>T (p.Pro528=) c.498C>T (p.Pro166=) c.4404C>T (p.Pro1468=) | |
1 | g.8355556G>C | CA570748 | RERE | c.2868C>G (p.Pro956=) c.4530C>G (p.Pro1510=) c.3726C>G (p.Pro1242=) c.1584C>G (p.Pro528=) c.498C>G (p.Pro166=) c.4404C>G (p.Pro1468=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8355556G= | CA1152318884 | RERE | c.2868C= (p.Pro956=) c.4530C= (p.Pro1510=) c.3726C= (p.Pro1242=) c.1584C= (p.Pro528=) c.498C= (p.Pro166=) c.4404C= (p.Pro1468=) | |
1 | g.8355556G>T | CA570747 | RERE | c.2868C>A (p.Pro956=) c.4530C>A (p.Pro1510=) c.3726C>A (p.Pro1242=) c.1584C>A (p.Pro528=) c.498C>A (p.Pro166=) c.4404C>A (p.Pro1468=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.8355561dup | CA1152318883 | RERE | c.2868dup (p.Met957HisfsTer?) c.4530dup (p.Met1511HisfsTer?) c.3726dup (p.Met1243HisfsTer?) c.1584dup (p.Met529HisfsTer?) c.498dup (p.Met167HisfsTer?) c.4404dup (p.Met1469HisfsTer?) | dbSNP gnomAD v4 |
1 | g.8355561del | CA2643072837 | RERE | c.2868del (p.Met957CysfsTer?) c.4530del (p.Met1511CysfsTer?) c.3726del (p.Met1243CysfsTer?) c.1584del (p.Met529CysfsTer?) c.498del (p.Met167CysfsTer?) c.4404del (p.Met1469CysfsTer?) | gnomAD v4 |
1 | g.8355557G>A | CA338168288 | RERE | c.2867C>T (p.Pro956Leu) c.4529C>T (p.Pro1510Leu) c.3725C>T (p.Pro1242Leu) c.1583C>T (p.Pro528Leu) c.497C>T (p.Pro166Leu) c.4403C>T (p.Pro1468Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
1 | g.8355557G>C | CA338168290 | RERE | c.2867C>G (p.Pro956Arg) c.4529C>G (p.Pro1510Arg) c.3725C>G (p.Pro1242Arg) c.1583C>G (p.Pro528Arg) c.497C>G (p.Pro166Arg) c.4403C>G (p.Pro1468Arg) | gnomAD v4 |
1 | g.8355557G= | CA1152318885 | RERE | c.2867C= (p.Pro956=) c.4529C= (p.Pro1510=) c.3725C= (p.Pro1242=) c.1583C= (p.Pro528=) c.497C= (p.Pro166=) c.4403C= (p.Pro1468=) | |
1 | g.8355557G>T | CA338168289 | RERE | c.2867C>A (p.Pro956His) c.4529C>A (p.Pro1510His) c.3725C>A (p.Pro1242His) c.1583C>A (p.Pro528His) c.497C>A (p.Pro166His) c.4403C>A (p.Pro1468His) | gnomAD v4 |
1 | g.8355558G>A | CA338168291 | RERE | c.2866C>T (p.Pro956Ser) c.4528C>T (p.Pro1510Ser) c.3724C>T (p.Pro1242Ser) c.1582C>T (p.Pro528Ser) c.496C>T (p.Pro166Ser) c.4402C>T (p.Pro1468Ser) | gnomAD v4 |
1 | g.8355558G>C | CA570750 | RERE | c.2866C>G (p.Pro956Ala) c.4528C>G (p.Pro1510Ala) c.3724C>G (p.Pro1242Ala) c.1582C>G (p.Pro528Ala) c.496C>G (p.Pro166Ala) c.4402C>G (p.Pro1468Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8355558G= | CA1141494607 | RERE | c.2866C= (p.Pro956=) c.4528C= (p.Pro1510=) c.3724C= (p.Pro1242=) c.1582C= (p.Pro528=) c.496C= (p.Pro166=) c.4402C= (p.Pro1468=) | |
1 | g.8355558G>T | CA570749 | RERE | c.2866C>A (p.Pro956Thr) c.4528C>A (p.Pro1510Thr) c.3724C>A (p.Pro1242Thr) c.1582C>A (p.Pro528Thr) c.496C>A (p.Pro166Thr) c.4402C>A (p.Pro1468Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8355559G>A | CA415842083 | RERE | c.2865C>T (p.Pro955=) c.4527C>T (p.Pro1509=) c.3723C>T (p.Pro1241=) c.1581C>T (p.Pro527=) c.495C>T (p.Pro165=) c.4401C>T (p.Pro1467=) | dbSNP |
1 | g.8355559G>C | CA415842084 | RERE | c.2865C>G (p.Pro955=) c.4527C>G (p.Pro1509=) c.3723C>G (p.Pro1241=) c.1581C>G (p.Pro527=) c.495C>G (p.Pro165=) c.4401C>G (p.Pro1467=) | gnomAD v4 |
1 | g.8355559G= | CA1152318886 | RERE | c.2865C= (p.Pro955=) c.4527C= (p.Pro1509=) c.3723C= (p.Pro1241=) c.1581C= (p.Pro527=) c.495C= (p.Pro165=) c.4401C= (p.Pro1467=) | |
1 | g.8355559G>T | CA415842085 | RERE | c.2865C>A (p.Pro955=) c.4527C>A (p.Pro1509=) c.3723C>A (p.Pro1241=) c.1581C>A (p.Pro527=) c.495C>A (p.Pro165=) c.4401C>A (p.Pro1467=) | |
1 | g.8355560G>A | CA338168292 | RERE | c.2864C>T (p.Pro955Leu) c.4526C>T (p.Pro1509Leu) c.3722C>T (p.Pro1241Leu) c.1580C>T (p.Pro527Leu) c.494C>T (p.Pro165Leu) c.4400C>T (p.Pro1467Leu) | gnomAD v4 |
1 | g.8355560G>C | CA338168293 | RERE | c.2864C>G (p.Pro955Arg) c.4526C>G (p.Pro1509Arg) c.3722C>G (p.Pro1241Arg) c.1580C>G (p.Pro527Arg) c.494C>G (p.Pro165Arg) c.4400C>G (p.Pro1467Arg) | |
1 | g.8355560G>T | CA338168294 | RERE | c.2864C>A (p.Pro955His) c.4526C>A (p.Pro1509His) c.3722C>A (p.Pro1241His) c.1580C>A (p.Pro527His) c.494C>A (p.Pro165His) c.4400C>A (p.Pro1467His) | |
1 | g.8355561G>A | CA338168295 | RERE | c.2863C>T (p.Pro955Ser) c.4525C>T (p.Pro1509Ser) c.3721C>T (p.Pro1241Ser) c.1579C>T (p.Pro527Ser) c.493C>T (p.Pro165Ser) c.4399C>T (p.Pro1467Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8355561G>C | CA338168296 | RERE | c.2863C>G (p.Pro955Ala) c.4525C>G (p.Pro1509Ala) c.3721C>G (p.Pro1241Ala) c.1579C>G (p.Pro527Ala) c.493C>G (p.Pro165Ala) c.4399C>G (p.Pro1467Ala) | |
1 | g.8355561G= | CA1152318887 | RERE | c.2863C= (p.Pro955=) c.4525C= (p.Pro1509=) c.3721C= (p.Pro1241=) c.1579C= (p.Pro527=) c.493C= (p.Pro165=) c.4399C= (p.Pro1467=) | |
1 | g.8355561G>T | CA338168297 | RERE | c.2863C>A (p.Pro955Thr) c.4525C>A (p.Pro1509Thr) c.3721C>A (p.Pro1241Thr) c.1579C>A (p.Pro527Thr) c.493C>A (p.Pro165Thr) c.4399C>A (p.Pro1467Thr) | gnomAD v4 |
1 | g.8355562T>A | CA415842086 | RERE | c.2862A>T (p.Pro954=) c.4524A>T (p.Pro1508=) c.3720A>T (p.Pro1240=) c.1578A>T (p.Pro526=) c.492A>T (p.Pro164=) c.4398A>T (p.Pro1466=) | |
1 | g.8355562T>C | CA415842088 | RERE | c.2862A>G (p.Pro954=) c.4524A>G (p.Pro1508=) c.3720A>G (p.Pro1240=) c.1578A>G (p.Pro526=) c.492A>G (p.Pro164=) c.4398A>G (p.Pro1466=) | |
1 | g.8355562T>G | CA415842087 | RERE | c.2862A>C (p.Pro954=) c.4524A>C (p.Pro1508=) c.3720A>C (p.Pro1240=) c.1578A>C (p.Pro526=) c.492A>C (p.Pro164=) c.4398A>C (p.Pro1466=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8355562T= | CA1152318888 | RERE | c.2862A= (p.Pro954=) c.4524A= (p.Pro1508=) c.3720A= (p.Pro1240=) c.1578A= (p.Pro526=) c.492A= (p.Pro164=) c.4398A= (p.Pro1466=) | |
1 | g.8355563G>A | CA338168298 | RERE | c.2861C>T (p.Pro954Leu) c.4523C>T (p.Pro1508Leu) c.3719C>T (p.Pro1240Leu) c.1577C>T (p.Pro526Leu) c.491C>T (p.Pro164Leu) c.4397C>T (p.Pro1466Leu) | |
1 | g.8355563G>C | CA338168299 | RERE | c.2861C>G (p.Pro954Arg) c.4523C>G (p.Pro1508Arg) c.3719C>G (p.Pro1240Arg) c.1577C>G (p.Pro526Arg) c.491C>G (p.Pro164Arg) c.4397C>G (p.Pro1466Arg) | |
1 | g.8355563G>T | CA338168300 | RERE | c.2861C>A (p.Pro954Gln) c.4523C>A (p.Pro1508Gln) c.3719C>A (p.Pro1240Gln) c.1577C>A (p.Pro526Gln) c.491C>A (p.Pro164Gln) c.4397C>A (p.Pro1466Gln) | |
1 | g.8355565del | CA2643072838 | RERE | c.2861del (p.Pro954HisfsTer?) c.4523del (p.Pro1508HisfsTer?) c.3719del (p.Pro1240HisfsTer?) c.1577del (p.Pro526HisfsTer?) c.491del (p.Pro164HisfsTer?) c.4397del (p.Pro1466HisfsTer?) | gnomAD v4 |
1 | g.8355564G>A | CA338168303 | RERE | c.2860C>T (p.Pro954Ser) c.4522C>T (p.Pro1508Ser) c.3718C>T (p.Pro1240Ser) c.1576C>T (p.Pro526Ser) c.490C>T (p.Pro164Ser) c.4396C>T (p.Pro1466Ser) | |
1 | g.8355564G>C | CA338168301 | RERE | c.2860C>G (p.Pro954Ala) c.4522C>G (p.Pro1508Ala) c.3718C>G (p.Pro1240Ala) c.1576C>G (p.Pro526Ala) c.490C>G (p.Pro164Ala) c.4396C>G (p.Pro1466Ala) | |
1 | g.8355564G>T | CA338168302 | RERE | c.2860C>A (p.Pro954Thr) c.4522C>A (p.Pro1508Thr) c.3718C>A (p.Pro1240Thr) c.1576C>A (p.Pro526Thr) c.490C>A (p.Pro164Thr) c.4396C>A (p.Pro1466Thr) | |
1 | g.8355565G>A | CA415842089 | RERE | c.2859C>T (p.Ile953=) c.4521C>T (p.Ile1507=) c.3717C>T (p.Ile1239=) c.1575C>T (p.Ile525=) c.489C>T (p.Ile163=) c.4395C>T (p.Ile1465=) | |
1 | g.8355565G>C | CA338168304 | RERE | c.2859C>G (p.Ile953Met) c.4521C>G (p.Ile1507Met) c.3717C>G (p.Ile1239Met) c.1575C>G (p.Ile525Met) c.489C>G (p.Ile163Met) c.4395C>G (p.Ile1465Met) | |
1 | g.8355565G>T | CA415842090 | RERE | c.2859C>A (p.Ile953=) c.4521C>A (p.Ile1507=) c.3717C>A (p.Ile1239=) c.1575C>A (p.Ile525=) c.489C>A (p.Ile163=) c.4395C>A (p.Ile1465=) | |
1 | g.8355566A>C | CA338168305 | RERE | c.2858T>G (p.Ile953Ser) c.4520T>G (p.Ile1507Ser) c.3716T>G (p.Ile1239Ser) c.1574T>G (p.Ile525Ser) c.488T>G (p.Ile163Ser) c.4394T>G (p.Ile1465Ser) | |
1 | g.8355566A>G | CA338168306 | RERE | c.2858T>C (p.Ile953Thr) c.4520T>C (p.Ile1507Thr) c.3716T>C (p.Ile1239Thr) c.1574T>C (p.Ile525Thr) c.488T>C (p.Ile163Thr) c.4394T>C (p.Ile1465Thr) | |
1 | g.8355566A>T | CA338168307 | RERE | c.2858T>A (p.Ile953Asn) c.4520T>A (p.Ile1507Asn) c.3716T>A (p.Ile1239Asn) c.1574T>A (p.Ile525Asn) c.488T>A (p.Ile163Asn) c.4394T>A (p.Ile1465Asn) | |
1 | g.8355567T>A | CA338168308 | RERE | c.2857A>T (p.Ile953Phe) c.4519A>T (p.Ile1507Phe) c.3715A>T (p.Ile1239Phe) c.1573A>T (p.Ile525Phe) c.487A>T (p.Ile163Phe) c.4393A>T (p.Ile1465Phe) | |
1 | g.8355567T>C | CA570751 | RERE | c.2857A>G (p.Ile953Val) c.4519A>G (p.Ile1507Val) c.3715A>G (p.Ile1239Val) c.1573A>G (p.Ile525Val) c.487A>G (p.Ile163Val) c.4393A>G (p.Ile1465Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8355567T>G | CA338168309 | RERE | c.2857A>C (p.Ile953Leu) c.4519A>C (p.Ile1507Leu) c.3715A>C (p.Ile1239Leu) c.1573A>C (p.Ile525Leu) c.487A>C (p.Ile163Leu) c.4393A>C (p.Ile1465Leu) | gnomAD v4 |
1 | g.8355567T= | CA1142097729 | RERE | c.2857A= (p.Ile953=) c.4519A= (p.Ile1507=) c.3715A= (p.Ile1239=) c.1573A= (p.Ile525=) c.487A= (p.Ile163=) c.4393A= (p.Ile1465=) | |
1 | g.8355568G>A | CA570752 | RERE | c.2856C>T (p.Ala952=) c.4518C>T (p.Ala1506=) c.3714C>T (p.Ala1238=) c.1572C>T (p.Ala524=) c.486C>T (p.Ala162=) c.4392C>T (p.Ala1464=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8355568G>C | CA415842091 | RERE | c.2856C>G (p.Ala952=) c.4518C>G (p.Ala1506=) c.3714C>G (p.Ala1238=) c.1572C>G (p.Ala524=) c.486C>G (p.Ala162=) c.4392C>G (p.Ala1464=) | |
1 | g.8355568G= | CA1152318889 | RERE | c.2856C= (p.Ala952=) c.4518C= (p.Ala1506=) c.3714C= (p.Ala1238=) c.1572C= (p.Ala524=) c.486C= (p.Ala162=) c.4392C= (p.Ala1464=) | |
1 | g.8355568G>T | CA415842092 | RERE | c.2856C>A (p.Ala952=) c.4518C>A (p.Ala1506=) c.3714C>A (p.Ala1238=) c.1572C>A (p.Ala524=) c.486C>A (p.Ala162=) c.4392C>A (p.Ala1464=) | gnomAD v4 |
1 | g.8355569G>A | CA570753 | RERE | c.2855C>T (p.Ala952Val) c.4517C>T (p.Ala1506Val) c.3713C>T (p.Ala1238Val) c.1571C>T (p.Ala524Val) c.485C>T (p.Ala162Val) c.4391C>T (p.Ala1464Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8355569G>C | CA338168310 | RERE | c.2855C>G (p.Ala952Gly) c.4517C>G (p.Ala1506Gly) c.3713C>G (p.Ala1238Gly) c.1571C>G (p.Ala524Gly) c.485C>G (p.Ala162Gly) c.4391C>G (p.Ala1464Gly) | |
1 | g.8355569G= | CA1146365366 | RERE | c.2855C= (p.Ala952=) c.4517C= (p.Ala1506=) c.3713C= (p.Ala1238=) c.1571C= (p.Ala524=) c.485C= (p.Ala162=) c.4391C= (p.Ala1464=) | |
1 | g.8355569G>T | CA338168311 | RERE | c.2855C>A (p.Ala952Asp) c.4517C>A (p.Ala1506Asp) c.3713C>A (p.Ala1238Asp) c.1571C>A (p.Ala524Asp) c.485C>A (p.Ala162Asp) c.4391C>A (p.Ala1464Asp) | gnomAD v4 |
1 | g.8355570C>A | CA338168313 | RERE | c.2854G>T (p.Ala952Ser) c.4516G>T (p.Ala1506Ser) c.3712G>T (p.Ala1238Ser) c.1570G>T (p.Ala524Ser) c.484G>T (p.Ala162Ser) c.4390G>T (p.Ala1464Ser) | |
1 | g.8355570C= | CA1149039647 | RERE | c.2854G= (p.Ala952=) c.4516G= (p.Ala1506=) c.3712G= (p.Ala1238=) c.1570G= (p.Ala524=) c.484G= (p.Ala162=) c.4390G= (p.Ala1464=) | |
1 | g.8355570C>G | CA338168312 | RERE | c.2854G>C (p.Ala952Pro) c.4516G>C (p.Ala1506Pro) c.3712G>C (p.Ala1238Pro) c.1570G>C (p.Ala524Pro) c.484G>C (p.Ala162Pro) c.4390G>C (p.Ala1464Pro) | |
1 | g.8355570C>T | CA570754 | RERE | c.2854G>A (p.Ala952Thr) c.4516G>A (p.Ala1506Thr) c.3712G>A (p.Ala1238Thr) c.1570G>A (p.Ala524Thr) c.484G>A (p.Ala162Thr) c.4390G>A (p.Ala1464Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8355573del | CA2643072839 | RERE | c.2854del (p.Ala952ProfsTer?) c.4516del (p.Ala1506ProfsTer?) c.3712del (p.Ala1238ProfsTer?) c.1570del (p.Ala524ProfsTer?) c.484del (p.Ala162ProfsTer?) c.4390del (p.Ala1464ProfsTer?) | gnomAD v4 |
1 | g.8355571C>A | CA570755 | RERE | c.2853G>T (p.Gly951=) c.4515G>T (p.Gly1505=) c.3711G>T (p.Gly1237=) c.1569G>T (p.Gly523=) c.483G>T (p.Gly161=) c.4389G>T (p.Gly1463=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8355571C= | CA1141956728 | RERE | c.2853G= (p.Gly951=) c.4515G= (p.Gly1505=) c.3711G= (p.Gly1237=) c.1569G= (p.Gly523=) c.483G= (p.Gly161=) c.4389G= (p.Gly1463=) | |
1 | g.8355571C>G | CA415842093 | RERE | c.2853G>C (p.Gly951=) c.4515G>C (p.Gly1505=) c.3711G>C (p.Gly1237=) c.1569G>C (p.Gly523=) c.483G>C (p.Gly161=) c.4389G>C (p.Gly1463=) | |
1 | g.8355571C>T | CA415842094 | RERE | c.2853G>A (p.Gly951=) c.4515G>A (p.Gly1505=) c.3711G>A (p.Gly1237=) c.1569G>A (p.Gly523=) c.483G>A (p.Gly161=) c.4389G>A (p.Gly1463=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8355572C>A | CA338168316 | RERE | c.2852G>T (p.Gly951Val) c.4514G>T (p.Gly1505Val) c.3710G>T (p.Gly1237Val) c.1568G>T (p.Gly523Val) c.482G>T (p.Gly161Val) c.4388G>T (p.Gly1463Val) | gnomAD v4 |
1 | g.8355572C= | CA1152318890 | RERE | c.2852G= (p.Gly951=) c.4514G= (p.Gly1505=) c.3710G= (p.Gly1237=) c.1568G= (p.Gly523=) c.482G= (p.Gly161=) c.4388G= (p.Gly1463=) | |
1 | g.8355572C>G | CA338168314 | RERE | c.2852G>C (p.Gly951Ala) c.4514G>C (p.Gly1505Ala) c.3710G>C (p.Gly1237Ala) c.1568G>C (p.Gly523Ala) c.482G>C (p.Gly161Ala) c.4388G>C (p.Gly1463Ala) | gnomAD v4 |
1 | g.8355572C>T | CA338168315 | RERE | c.2852G>A (p.Gly951Glu) c.4514G>A (p.Gly1505Glu) c.3710G>A (p.Gly1237Glu) c.1568G>A (p.Gly523Glu) c.482G>A (p.Gly161Glu) c.4388G>A (p.Gly1463Glu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8355573C>A | CA338168317 | RERE | c.2851G>T (p.Gly951Trp) c.4513G>T (p.Gly1505Trp) c.3709G>T (p.Gly1237Trp) c.1567G>T (p.Gly523Trp) c.481G>T (p.Gly161Trp) c.4387G>T (p.Gly1463Trp) | gnomAD v4 |
1 | g.8355573C= | CA1152318891 | RERE | c.2851G= (p.Gly951=) c.4513G= (p.Gly1505=) c.3709G= (p.Gly1237=) c.1567G= (p.Gly523=) c.481G= (p.Gly161=) c.4387G= (p.Gly1463=) | |
1 | g.8355573C>G | CA338168318 | RERE | c.2851G>C (p.Gly951Arg) c.4513G>C (p.Gly1505Arg) c.3709G>C (p.Gly1237Arg) c.1567G>C (p.Gly523Arg) c.481G>C (p.Gly161Arg) c.4387G>C (p.Gly1463Arg) | dbSNP |
1 | g.8355573C>T | CA338168319 | RERE | c.2851G>A (p.Gly951Arg) c.4513G>A (p.Gly1505Arg) c.3709G>A (p.Gly1237Arg) c.1567G>A (p.Gly523Arg) c.481G>A (p.Gly161Arg) c.4387G>A (p.Gly1463Arg) | gnomAD v4 |
1 | g.8355574A>C | CA415842096 | RERE | c.2850T>G (p.Pro950=) c.4512T>G (p.Pro1504=) c.3708T>G (p.Pro1236=) c.1566T>G (p.Pro522=) c.480T>G (p.Pro160=) c.4386T>G (p.Pro1462=) | |
1 | g.8355574A>G | CA415842097 | RERE | c.2850T>C (p.Pro950=) c.4512T>C (p.Pro1504=) c.3708T>C (p.Pro1236=) c.1566T>C (p.Pro522=) c.480T>C (p.Pro160=) c.4386T>C (p.Pro1462=) | gnomAD v4 |
1 | g.8355574A>T | CA415842095 | RERE | c.2850T>A (p.Pro950=) c.4512T>A (p.Pro1504=) c.3708T>A (p.Pro1236=) c.1566T>A (p.Pro522=) c.480T>A (p.Pro160=) c.4386T>A (p.Pro1462=) | |
1 | g.8355575G>A | CA338168320 | RERE | c.2849C>T (p.Pro950Leu) c.4511C>T (p.Pro1504Leu) c.3707C>T (p.Pro1236Leu) c.1565C>T (p.Pro522Leu) c.479C>T (p.Pro160Leu) c.4385C>T (p.Pro1462Leu) | |
1 | g.8355575G>C | CA338168321 | RERE | c.2849C>G (p.Pro950Arg) c.4511C>G (p.Pro1504Arg) c.3707C>G (p.Pro1236Arg) c.1565C>G (p.Pro522Arg) c.479C>G (p.Pro160Arg) c.4385C>G (p.Pro1462Arg) | |
1 | g.8355575G>T | CA338168322 | RERE | c.2849C>A (p.Pro950His) c.4511C>A (p.Pro1504His) c.3707C>A (p.Pro1236His) c.1565C>A (p.Pro522His) c.479C>A (p.Pro160His) c.4385C>A (p.Pro1462His) | |
1 | g.8355576G>A | CA338168323 | RERE | c.2848C>T (p.Pro950Ser) c.4510C>T (p.Pro1504Ser) c.3706C>T (p.Pro1236Ser) c.1564C>T (p.Pro522Ser) c.478C>T (p.Pro160Ser) c.4384C>T (p.Pro1462Ser) | gnomAD v4 |
1 | g.8355576G>C | CA338168324 | RERE | c.2848C>G (p.Pro950Ala) c.4510C>G (p.Pro1504Ala) c.3706C>G (p.Pro1236Ala) c.1564C>G (p.Pro522Ala) c.478C>G (p.Pro160Ala) c.4384C>G (p.Pro1462Ala) | |
1 | g.8355576G>T | CA338168325 | RERE | c.2848C>A (p.Pro950Thr) c.4510C>A (p.Pro1504Thr) c.3706C>A (p.Pro1236Thr) c.1564C>A (p.Pro522Thr) c.478C>A (p.Pro160Thr) c.4384C>A (p.Pro1462Thr) | |
1 | g.8355577C>A | CA415842099 | RERE | c.2847G>T (p.Leu949=) c.4509G>T (p.Leu1503=) c.3705G>T (p.Leu1235=) c.1563G>T (p.Leu521=) c.477G>T (p.Leu159=) c.4383G>T (p.Leu1461=) | dbSNP gnomAD v4 |
1 | g.8355577C= | CA1152318892 | RERE | c.2847G= (p.Leu949=) c.4509G= (p.Leu1503=) c.3705G= (p.Leu1235=) c.1563G= (p.Leu521=) c.477G= (p.Leu159=) c.4383G= (p.Leu1461=) | |
1 | g.8355577C>G | CA415842100 | RERE | c.2847G>C (p.Leu949=) c.4509G>C (p.Leu1503=) c.3705G>C (p.Leu1235=) c.1563G>C (p.Leu521=) c.477G>C (p.Leu159=) c.4383G>C (p.Leu1461=) | |
1 | g.8355577C>T | CA415842101 | RERE | c.2847G>A (p.Leu949=) c.4509G>A (p.Leu1503=) c.3705G>A (p.Leu1235=) c.1563G>A (p.Leu521=) c.477G>A (p.Leu159=) c.4383G>A (p.Leu1461=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8355578A= | CA1152318893 | RERE | c.2846T= (p.Leu949=) c.4508T= (p.Leu1503=) c.3704T= (p.Leu1235=) c.1562T= (p.Leu521=) c.476T= (p.Leu159=) c.4382T= (p.Leu1461=) | |
1 | g.8355578A>C | CA338168328 | RERE | c.2846T>G (p.Leu949Arg) c.4508T>G (p.Leu1503Arg) c.3704T>G (p.Leu1235Arg) c.1562T>G (p.Leu521Arg) c.476T>G (p.Leu159Arg) c.4382T>G (p.Leu1461Arg) | |
1 | g.8355578A>G | CA338168327 | RERE | c.2846T>C (p.Leu949Pro) c.4508T>C (p.Leu1503Pro) c.3704T>C (p.Leu1235Pro) c.1562T>C (p.Leu521Pro) c.476T>C (p.Leu159Pro) c.4382T>C (p.Leu1461Pro) | gnomAD v4 |
1 | g.8355578A>T | CA338168326 | RERE | c.2846T>A (p.Leu949Gln) c.4508T>A (p.Leu1503Gln) c.3704T>A (p.Leu1235Gln) c.1562T>A (p.Leu521Gln) c.476T>A (p.Leu159Gln) c.4382T>A (p.Leu1461Gln) | |
1 | g.8355578_8355586delinsAGGTCACGG | CA1152318894 | RERE | c.2838_2846delinsCCGTGACCT (p.Pro946=) c.4500_4508delinsCCGTGACCT (p.Pro1500=) c.3696_3704delinsCCGTGACCT (p.Pro1232=) c.1554_1562delinsCCGTGACCT (p.Pro518=) c.468_476delinsCCGTGACCT (p.Pro156=) c.4374_4382delinsCCGTGACCT (p.Pro1458=) | |
1 | g.8355579G>A | CA570757 | RERE | c.2845C>T (p.Leu949=) c.4507C>T (p.Leu1503=) c.3703C>T (p.Leu1235=) c.1561C>T (p.Leu521=) c.475C>T (p.Leu159=) c.4381C>T (p.Leu1461=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8355579G>C | CA338168329 | RERE | c.2845C>G (p.Leu949Val) c.4507C>G (p.Leu1503Val) c.3703C>G (p.Leu1235Val) c.1561C>G (p.Leu521Val) c.475C>G (p.Leu159Val) c.4381C>G (p.Leu1461Val) | |
1 | g.8355579G= | CA1152318895 | RERE | c.2845C= (p.Leu949=) c.4507C= (p.Leu1503=) c.3703C= (p.Leu1235=) c.1561C= (p.Leu521=) c.475C= (p.Leu159=) c.4381C= (p.Leu1461=) | |
1 | g.8355579G>T | CA338168330 | RERE | c.2845C>A (p.Leu949Met) c.4507C>A (p.Leu1503Met) c.3703C>A (p.Leu1235Met) c.1561C>A (p.Leu521Met) c.475C>A (p.Leu159Met) c.4381C>A (p.Leu1461Met) | |
1 | g.8355579_8355581dup | CA570756 | RERE | c.2843_2845dup (p.Asp948_Leu949insHis) c.4505_4507dup (p.Asp1502_Leu1503insHis) c.3701_3703dup (p.Asp1234_Leu1235insHis) c.1559_1561dup (p.Asp520_Leu521insHis) c.473_475dup (p.Asp158_Leu159insHis) c.4379_4381dup (p.Asp1460_Leu1461insHis) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8355581_8355588del | CA1152318896 | RERE | c.2838_2845del (p.Arg947AlafsTer?) c.4500_4507del (p.Arg1501AlafsTer?) c.3696_3703del (p.Arg1233AlafsTer?) c.1554_1561del (p.Arg519AlafsTer?) c.468_475del (p.Arg157AlafsTer?) c.4374_4381del (p.Arg1459AlafsTer?) | dbSNP |
1 | g.8355580G>A | CA415842105 | RERE | c.2844C>T (p.Asp948=) c.4506C>T (p.Asp1502=) c.3702C>T (p.Asp1234=) c.1560C>T (p.Asp520=) c.474C>T (p.Asp158=) c.4380C>T (p.Asp1460=) | dbSNP gnomAD v4 |
1 | g.8355580G>C | CA338168331 | RERE | c.2844C>G (p.Asp948Glu) c.4506C>G (p.Asp1502Glu) c.3702C>G (p.Asp1234Glu) c.1560C>G (p.Asp520Glu) c.474C>G (p.Asp158Glu) c.4380C>G (p.Asp1460Glu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8355580G= | CA1152318897 | RERE | c.2844C= (p.Asp948=) c.4506C= (p.Asp1502=) c.3702C= (p.Asp1234=) c.1560C= (p.Asp520=) c.474C= (p.Asp158=) c.4380C= (p.Asp1460=) | |
1 | g.8355580G>T | CA338168332 | RERE | c.2844C>A (p.Asp948Glu) c.4506C>A (p.Asp1502Glu) c.3702C>A (p.Asp1234Glu) c.1560C>A (p.Asp520Glu) c.474C>A (p.Asp158Glu) c.4380C>A (p.Asp1460Glu) | gnomAD v4 |
1 | g.8355581T>A | CA338168333 | RERE | c.2843A>T (p.Asp948Val) c.4505A>T (p.Asp1502Val) c.3701A>T (p.Asp1234Val) c.1559A>T (p.Asp520Val) c.473A>T (p.Asp158Val) c.4379A>T (p.Asp1460Val) | |
1 | g.8355581T>C | CA338168334 | RERE | c.2843A>G (p.Asp948Gly) c.4505A>G (p.Asp1502Gly) c.3701A>G (p.Asp1234Gly) c.1559A>G (p.Asp520Gly) c.473A>G (p.Asp158Gly) c.4379A>G (p.Asp1460Gly) | |
1 | g.8355581T>G | CA338168335 | RERE | c.2843A>C (p.Asp948Ala) c.4505A>C (p.Asp1502Ala) c.3701A>C (p.Asp1234Ala) c.1559A>C (p.Asp520Ala) c.473A>C (p.Asp158Ala) c.4379A>C (p.Asp1460Ala) | |
1 | g.8355582C>A | CA338168336 | RERE | c.2842G>T (p.Asp948Tyr) c.4504G>T (p.Asp1502Tyr) c.3700G>T (p.Asp1234Tyr) c.1558G>T (p.Asp520Tyr) c.472G>T (p.Asp158Tyr) c.4378G>T (p.Asp1460Tyr) | gnomAD v4 |
1 | g.8355582C>G | CA338168337 | RERE | c.2842G>C (p.Asp948His) c.4504G>C (p.Asp1502His) c.3700G>C (p.Asp1234His) c.1558G>C (p.Asp520His) c.472G>C (p.Asp158His) c.4378G>C (p.Asp1460His) | |
1 | g.8355582C>T | CA338168338 | RERE | c.2842G>A (p.Asp948Asn) c.4504G>A (p.Asp1502Asn) c.3700G>A (p.Asp1234Asn) c.1558G>A (p.Asp520Asn) c.472G>A (p.Asp158Asn) c.4378G>A (p.Asp1460Asn) | |
1 | g.8355583A>C | CA415842107 | RERE | c.2841T>G (p.Arg947=) c.4503T>G (p.Arg1501=) c.3699T>G (p.Arg1233=) c.1557T>G (p.Arg519=) c.471T>G (p.Arg157=) c.4377T>G (p.Arg1459=) | |
1 | g.8355583A>G | CA415842108 | RERE | c.2841T>C (p.Arg947=) c.4503T>C (p.Arg1501=) c.3699T>C (p.Arg1233=) c.1557T>C (p.Arg519=) c.471T>C (p.Arg157=) c.4377T>C (p.Arg1459=) | |
1 | g.8355583A>T | CA415842110 | RERE | c.2841T>A (p.Arg947=) c.4503T>A (p.Arg1501=) c.3699T>A (p.Arg1233=) c.1557T>A (p.Arg519=) c.471T>A (p.Arg157=) c.4377T>A (p.Arg1459=) | |
1 | g.8355584C>A | CA338168340 | RERE | c.2840G>T (p.Arg947Leu) c.4502G>T (p.Arg1501Leu) c.3698G>T (p.Arg1233Leu) c.1556G>T (p.Arg519Leu) c.470G>T (p.Arg157Leu) c.4376G>T (p.Arg1459Leu) | gnomAD v4 |
1 | g.8355584C= | CA1152318898 | RERE | c.2840G= (p.Arg947=) c.4502G= (p.Arg1501=) c.3698G= (p.Arg1233=) c.1556G= (p.Arg519=) c.470G= (p.Arg157=) c.4376G= (p.Arg1459=) | |
1 | g.8355584C>G | CA338168341 | RERE | c.2840G>C (p.Arg947Pro) c.4502G>C (p.Arg1501Pro) c.3698G>C (p.Arg1233Pro) c.1556G>C (p.Arg519Pro) c.470G>C (p.Arg157Pro) c.4376G>C (p.Arg1459Pro) | gnomAD v4 COSMIC |
1 | g.8355584C>T | CA338168339 | RERE | c.2840G>A (p.Arg947His) c.4502G>A (p.Arg1501His) c.3698G>A (p.Arg1233His) c.1556G>A (p.Arg519His) c.470G>A (p.Arg157His) c.4376G>A (p.Arg1459His) | dbSNP gnomAD v4 |
1 | g.8355585G>A | CA338168342 | RERE | c.2839C>T (p.Arg947Cys) c.4501C>T (p.Arg1501Cys) c.3697C>T (p.Arg1233Cys) c.1555C>T (p.Arg519Cys) c.469C>T (p.Arg157Cys) c.4375C>T (p.Arg1459Cys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8355585G>C | CA338168343 | RERE | c.2839C>G (p.Arg947Gly) c.4501C>G (p.Arg1501Gly) c.3697C>G (p.Arg1233Gly) c.1555C>G (p.Arg519Gly) c.469C>G (p.Arg157Gly) c.4375C>G (p.Arg1459Gly) | |
1 | g.8355585G= | CA1152318899 | RERE | c.2839C= (p.Arg947=) c.4501C= (p.Arg1501=) c.3697C= (p.Arg1233=) c.1555C= (p.Arg519=) c.469C= (p.Arg157=) c.4375C= (p.Arg1459=) | |
1 | g.8355585G>T | CA338168344 | RERE | c.2839C>A (p.Arg947Ser) c.4501C>A (p.Arg1501Ser) c.3697C>A (p.Arg1233Ser) c.1555C>A (p.Arg519Ser) c.469C>A (p.Arg157Ser) c.4375C>A (p.Arg1459Ser) | gnomAD v4 |
1 | g.8355589del | CA2643072840 | RERE | c.2839del (p.Arg947ValfsTer?) c.4501del (p.Arg1501ValfsTer?) c.3697del (p.Arg1233ValfsTer?) c.1555del (p.Arg519ValfsTer?) c.469del (p.Arg157ValfsTer?) c.4375del (p.Arg1459ValfsTer?) | gnomAD v4 |
1 | g.8355586G>A | CA415842113 | RERE | c.2838C>T (p.Pro946=) c.4500C>T (p.Pro1500=) c.3696C>T (p.Pro1232=) c.1554C>T (p.Pro518=) c.468C>T (p.Pro156=) c.4374C>T (p.Pro1458=) | |
1 | g.8355586G>C | CA415842114 | RERE | c.2838C>G (p.Pro946=) c.4500C>G (p.Pro1500=) c.3696C>G (p.Pro1232=) c.1554C>G (p.Pro518=) c.468C>G (p.Pro156=) c.4374C>G (p.Pro1458=) | |
1 | g.8355586G>T | CA415842115 | RERE | c.2838C>A (p.Pro946=) c.4500C>A (p.Pro1500=) c.3696C>A (p.Pro1232=) c.1554C>A (p.Pro518=) c.468C>A (p.Pro156=) c.4374C>A (p.Pro1458=) | gnomAD v4 |
1 | g.8355587G>A | CA338168345 | RERE | c.2837C>T (p.Pro946Leu) c.4499C>T (p.Pro1500Leu) c.3695C>T (p.Pro1232Leu) c.1553C>T (p.Pro518Leu) c.467C>T (p.Pro156Leu) c.4373C>T (p.Pro1458Leu) | |
1 | g.8355587G>C | CA338168346 | RERE | c.2837C>G (p.Pro946Arg) c.4499C>G (p.Pro1500Arg) c.3695C>G (p.Pro1232Arg) c.1553C>G (p.Pro518Arg) c.467C>G (p.Pro156Arg) c.4373C>G (p.Pro1458Arg) | |
1 | g.8355587G>T | CA338168347 | RERE | c.2837C>A (p.Pro946His) c.4499C>A (p.Pro1500His) c.3695C>A (p.Pro1232His) c.1553C>A (p.Pro518His) c.467C>A (p.Pro156His) c.4373C>A (p.Pro1458His) | gnomAD v4 |
1 | g.8355588G>A | CA338168349 | RERE | c.2836C>T (p.Pro946Ser) c.4498C>T (p.Pro1500Ser) c.3694C>T (p.Pro1232Ser) c.1552C>T (p.Pro518Ser) c.466C>T (p.Pro156Ser) c.4372C>T (p.Pro1458Ser) | gnomAD v4 |
1 | g.8355588G>C | CA17687219 | RERE | c.2836C>G (p.Pro946Ala) c.4498C>G (p.Pro1500Ala) c.3694C>G (p.Pro1232Ala) c.1552C>G (p.Pro518Ala) c.466C>G (p.Pro156Ala) c.4372C>G (p.Pro1458Ala) | dbSNP gnomAD v4 |
1 | g.8355588G= | CA1152318900 | RERE | c.2836C= (p.Pro946=) c.4498C= (p.Pro1500=) c.3694C= (p.Pro1232=) c.1552C= (p.Pro518=) c.466C= (p.Pro156=) c.4372C= (p.Pro1458=) | |
1 | g.8355588G>T | CA338168348 | RERE | c.2836C>A (p.Pro946Thr) c.4498C>A (p.Pro1500Thr) c.3694C>A (p.Pro1232Thr) c.1552C>A (p.Pro518Thr) c.466C>A (p.Pro156Thr) c.4372C>A (p.Pro1458Thr) | gnomAD v4 |
1 | g.8355589G>A | CA415842118 | RERE | c.2835C>T (p.Tyr945=) c.4497C>T (p.Tyr1499=) c.3693C>T (p.Tyr1231=) c.1551C>T (p.Tyr517=) c.465C>T (p.Tyr155=) c.4371C>T (p.Tyr1457=) | gnomAD v4 |
1 | g.8355589G>C | CA338168350 | RERE | c.2835C>G (p.Tyr945Ter) c.4497C>G (p.Tyr1499Ter) c.3693C>G (p.Tyr1231Ter) c.1551C>G (p.Tyr517Ter) c.465C>G (p.Tyr155Ter) c.4371C>G (p.Tyr1457Ter) | |
1 | g.8355589G>T | CA338168351 | RERE | c.2835C>A (p.Tyr945Ter) c.4497C>A (p.Tyr1499Ter) c.3693C>A (p.Tyr1231Ter) c.1551C>A (p.Tyr517Ter) c.465C>A (p.Tyr155Ter) c.4371C>A (p.Tyr1457Ter) | gnomAD v4 |
1 | g.8355590T>A | CA338168352 | RERE | c.2834A>T (p.Tyr945Phe) c.4496A>T (p.Tyr1499Phe) c.3692A>T (p.Tyr1231Phe) c.1550A>T (p.Tyr517Phe) c.464A>T (p.Tyr155Phe) c.4370A>T (p.Tyr1457Phe) | |
1 | g.8355590T>C | CA338168353 | RERE | c.2834A>G (p.Tyr945Cys) c.4496A>G (p.Tyr1499Cys) c.3692A>G (p.Tyr1231Cys) c.1550A>G (p.Tyr517Cys) c.464A>G (p.Tyr155Cys) c.4370A>G (p.Tyr1457Cys) | gnomAD v4 |
1 | g.8355590T>G | CA338168354 | RERE | c.2834A>C (p.Tyr945Ser) c.4496A>C (p.Tyr1499Ser) c.3692A>C (p.Tyr1231Ser) c.1550A>C (p.Tyr517Ser) c.464A>C (p.Tyr155Ser) c.4370A>C (p.Tyr1457Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8355590T= | CA1152318901 | RERE | c.2834A= (p.Tyr945=) c.4496A= (p.Tyr1499=) c.3692A= (p.Tyr1231=) c.1550A= (p.Tyr517=) c.464A= (p.Tyr155=) c.4370A= (p.Tyr1457=) | |
1 | g.8355591A>C | CA338168355 | RERE | c.2833T>G (p.Tyr945Asp) c.4495T>G (p.Tyr1499Asp) c.3691T>G (p.Tyr1231Asp) c.1549T>G (p.Tyr517Asp) c.463T>G (p.Tyr155Asp) c.4369T>G (p.Tyr1457Asp) | |
1 | g.8355591A>G | CA338168357 | RERE | c.2833T>C (p.Tyr945His) c.4495T>C (p.Tyr1499His) c.3691T>C (p.Tyr1231His) c.1549T>C (p.Tyr517His) c.463T>C (p.Tyr155His) c.4369T>C (p.Tyr1457His) | |
1 | g.8355591A>T | CA338168356 | RERE | c.2833T>A (p.Tyr945Asn) c.4495T>A (p.Tyr1499Asn) c.3691T>A (p.Tyr1231Asn) c.1549T>A (p.Tyr517Asn) c.463T>A (p.Tyr155Asn) c.4369T>A (p.Tyr1457Asn) | |
1 | g.8355592G>A | CA415842119 | RERE | c.2832C>T (p.Pro944=) c.4494C>T (p.Pro1498=) c.3690C>T (p.Pro1230=) c.1548C>T (p.Pro516=) c.462C>T (p.Pro154=) c.4368C>T (p.Pro1456=) | gnomAD v4 |
1 | g.8355592G>C | CA415842120 | RERE | c.2832C>G (p.Pro944=) c.4494C>G (p.Pro1498=) c.3690C>G (p.Pro1230=) c.1548C>G (p.Pro516=) c.462C>G (p.Pro154=) c.4368C>G (p.Pro1456=) | |
1 | g.8355592G>T | CA415842121 | RERE | c.2832C>A (p.Pro944=) c.4494C>A (p.Pro1498=) c.3690C>A (p.Pro1230=) c.1548C>A (p.Pro516=) c.462C>A (p.Pro154=) c.4368C>A (p.Pro1456=) | gnomAD v4 |
1 | g.8355596dup | CA2643072842 | RERE | c.2832dup (p.Tyr945LeufsTer4) c.4494dup (p.Tyr1499LeufsTer4) c.3690dup (p.Tyr1231LeufsTer4) c.1548dup (p.Tyr517LeufsTer4) c.462dup (p.Tyr155LeufsTer4) c.4368dup (p.Tyr1457LeufsTer4) | gnomAD v4 |
1 | g.8355596del | CA2643072841 | RERE | c.2832del (p.Tyr945ThrfsTer?) c.4494del (p.Tyr1499ThrfsTer?) c.3690del (p.Tyr1231ThrfsTer?) c.1548del (p.Tyr517ThrfsTer?) c.462del (p.Tyr155ThrfsTer?) c.4368del (p.Tyr1457ThrfsTer?) | gnomAD v4 |
1 | g.8355593G>A | CA338168358 | RERE | c.2831C>T (p.Pro944Leu) c.4493C>T (p.Pro1498Leu) c.3689C>T (p.Pro1230Leu) c.1547C>T (p.Pro516Leu) c.461C>T (p.Pro154Leu) c.4367C>T (p.Pro1456Leu) | |
1 | g.8355593G>C | CA338168359 | RERE | c.2831C>G (p.Pro944Arg) c.4493C>G (p.Pro1498Arg) c.3689C>G (p.Pro1230Arg) c.1547C>G (p.Pro516Arg) c.461C>G (p.Pro154Arg) c.4367C>G (p.Pro1456Arg) | gnomAD v4 |
1 | g.8355593G= | CA1144092995 | RERE | c.2831C= (p.Pro944=) c.4493C= (p.Pro1498=) c.3689C= (p.Pro1230=) c.1547C= (p.Pro516=) c.461C= (p.Pro154=) c.4367C= (p.Pro1456=) | |
1 | g.8355593G>T | CA570758 | RERE | c.2831C>A (p.Pro944His) c.4493C>A (p.Pro1498His) c.3689C>A (p.Pro1230His) c.1547C>A (p.Pro516His) c.461C>A (p.Pro154His) c.4367C>A (p.Pro1456His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8355594G>A | CA338168360 | RERE | c.2830C>T (p.Pro944Ser) c.4492C>T (p.Pro1498Ser) c.3688C>T (p.Pro1230Ser) c.1546C>T (p.Pro516Ser) c.460C>T (p.Pro154Ser) c.4366C>T (p.Pro1456Ser) | |
1 | g.8355594G>C | CA338168361 | RERE | c.2830C>G (p.Pro944Ala) c.4492C>G (p.Pro1498Ala) c.3688C>G (p.Pro1230Ala) c.1546C>G (p.Pro516Ala) c.460C>G (p.Pro154Ala) c.4366C>G (p.Pro1456Ala) | gnomAD v4 |
1 | g.8355594G>T | CA338168362 | RERE | c.2830C>A (p.Pro944Thr) c.4492C>A (p.Pro1498Thr) c.3688C>A (p.Pro1230Thr) c.1546C>A (p.Pro516Thr) c.460C>A (p.Pro154Thr) c.4366C>A (p.Pro1456Thr) | gnomAD v4 |
1 | g.8355595G>A | CA415842122 | RERE | c.2829C>T (p.Thr943=) c.4491C>T (p.Thr1497=) c.3687C>T (p.Thr1229=) c.1545C>T (p.Thr515=) c.459C>T (p.Thr153=) c.4365C>T (p.Thr1455=) | gnomAD v4 |
1 | g.8355595G>C | CA415842123 | RERE | c.2829C>G (p.Thr943=) c.4491C>G (p.Thr1497=) c.3687C>G (p.Thr1229=) c.1545C>G (p.Thr515=) c.459C>G (p.Thr153=) c.4365C>G (p.Thr1455=) | |
1 | g.8355595G= | CA1152318902 | RERE | c.2829C= (p.Thr943=) c.4491C= (p.Thr1497=) c.3687C= (p.Thr1229=) c.1545C= (p.Thr515=) c.459C= (p.Thr153=) c.4365C= (p.Thr1455=) | |
1 | g.8355595G>T | CA570759 | RERE | c.2829C>A (p.Thr943=) c.4491C>A (p.Thr1497=) c.3687C>A (p.Thr1229=) c.1545C>A (p.Thr515=) c.459C>A (p.Thr153=) c.4365C>A (p.Thr1455=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8355596G>A | CA338168363 | RERE | c.2828C>T (p.Thr943Ile) c.4490C>T (p.Thr1497Ile) c.3686C>T (p.Thr1229Ile) c.1544C>T (p.Thr515Ile) c.458C>T (p.Thr153Ile) c.4364C>T (p.Thr1455Ile) | gnomAD v4 |
1 | g.8355596G>C | CA338168364 | RERE | c.2828C>G (p.Thr943Ser) c.4490C>G (p.Thr1497Ser) c.3686C>G (p.Thr1229Ser) c.1544C>G (p.Thr515Ser) c.458C>G (p.Thr153Ser) c.4364C>G (p.Thr1455Ser) | |
1 | g.8355596G= | CA1152318903 | RERE | c.2828C= (p.Thr943=) c.4490C= (p.Thr1497=) c.3686C= (p.Thr1229=) c.1544C= (p.Thr515=) c.458C= (p.Thr153=) c.4364C= (p.Thr1455=) | |
1 | g.8355596G>T | CA338168365 | RERE | c.2828C>A (p.Thr943Asn) c.4490C>A (p.Thr1497Asn) c.3686C>A (p.Thr1229Asn) c.1544C>A (p.Thr515Asn) c.458C>A (p.Thr153Asn) c.4364C>A (p.Thr1455Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8355597T>A | CA338168366 | RERE | c.2827A>T (p.Thr943Ser) c.4489A>T (p.Thr1497Ser) c.3685A>T (p.Thr1229Ser) c.1543A>T (p.Thr515Ser) c.457A>T (p.Thr153Ser) c.4363A>T (p.Thr1455Ser) | |
1 | g.8355597T>C | CA338168367 | RERE | c.2827A>G (p.Thr943Ala) c.4489A>G (p.Thr1497Ala) c.3685A>G (p.Thr1229Ala) c.1543A>G (p.Thr515Ala) c.457A>G (p.Thr153Ala) c.4363A>G (p.Thr1455Ala) | gnomAD v4 |
1 | g.8355597T>G | CA338168368 | RERE | c.2827A>C (p.Thr943Pro) c.4489A>C (p.Thr1497Pro) c.3685A>C (p.Thr1229Pro) c.1543A>C (p.Thr515Pro) c.457A>C (p.Thr153Pro) c.4363A>C (p.Thr1455Pro) | ClinVar dbSNP gnomAD v4 |
1 | g.8355597T= | CA1152318904 | RERE | c.2827A= (p.Thr943=) c.4489A= (p.Thr1497=) c.3685A= (p.Thr1229=) c.1543A= (p.Thr515=) c.457A= (p.Thr153=) c.4363A= (p.Thr1455=) | |
1 | g.8355598G>A | CA415842124 | RERE | c.2826C>T (p.Gly942=) c.4488C>T (p.Gly1496=) c.3684C>T (p.Gly1228=) c.1542C>T (p.Ser514=) c.456C>T (p.Gly152=) c.4362C>T (p.Gly1454=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.8355598G>C | CA338168370 | RERE | c.2826C>G (p.Gly942=) c.4488C>G (p.Gly1496=) c.3684C>G (p.Gly1228=) c.1542C>G (p.Ser514Arg) c.456C>G (p.Gly152=) c.4362C>G (p.Gly1454=) | |
1 | g.8355598G= | CA1152318905 | RERE | c.2826C= (p.Gly942=) c.4488C= (p.Gly1496=) c.3684C= (p.Gly1228=) c.1542C= (p.Ser514=) c.456C= (p.Gly152=) c.4362C= (p.Gly1454=) | |
1 | g.8355598G>T | CA338168369 | RERE | c.2826C>A (p.Gly942=) c.4488C>A (p.Gly1496=) c.3684C>A (p.Gly1228=) c.1542C>A (p.Ser514Arg) c.456C>A (p.Gly152=) c.4362C>A (p.Gly1454=) | dbSNP gnomAD v4 |
1 | g.8355599C>A | CA338168371 | RERE | c.2825G>T (p.Gly942Val) c.4487G>T (p.Gly1496Val) c.3683G>T (p.Gly1228Val) c.1541G>T (p.Ser514Ile) c.455G>T (p.Gly152Val) c.4361G>T (p.Gly1454Val) | gnomAD v4 |
1 | g.8355599C>G | CA338168373 | RERE | c.2825G>C (p.Gly942Ala) c.4487G>C (p.Gly1496Ala) c.3683G>C (p.Gly1228Ala) c.1541G>C (p.Ser514Thr) c.455G>C (p.Gly152Ala) c.4361G>C (p.Gly1454Ala) | |
1 | g.8355599C>T | CA338168372 | RERE | c.2825G>A (p.Gly942Asp) c.4487G>A (p.Gly1496Asp) c.3683G>A (p.Gly1228Asp) c.1541G>A (p.Ser514Asn) c.455G>A (p.Gly152Asp) c.4361G>A (p.Gly1454Asp) | gnomAD v4 |
1 | g.8355600C>A | CA338168374 | RERE | c.2825-1G>T (n.2825-1G>T) c.4487-1G>T (n.4487-1G>T) c.3683-1G>T (n.3683-1G>T) c.1541-1G>T (n.1541-1G>T) c.455-1G>T (n.455-1G>T) c.4361-1G>T (n.4361-1G>T) | |
1 | g.8355600C>G | CA338168376 | RERE | c.2825-1G>C (n.2825-1G>C) c.4487-1G>C (n.4487-1G>C) c.3683-1G>C (n.3683-1G>C) c.1541-1G>C (n.1541-1G>C) c.455-1G>C (n.455-1G>C) c.4361-1G>C (n.4361-1G>C) | |
1 | g.8355600C>T | CA338168375 | RERE | c.2825-1G>A (n.2825-1G>A) c.4487-1G>A (n.4487-1G>A) c.3683-1G>A (n.3683-1G>A) c.1541-1G>A (n.1541-1G>A) c.455-1G>A (n.455-1G>A) c.4361-1G>A (n.4361-1G>A) | |
1 | g.8355601T>A | CA338168377 | RERE | c.2825-2A>T (n.2825-2A>T) c.4487-2A>T (n.4487-2A>T) c.3683-2A>T (n.3683-2A>T) c.1541-2A>T (n.1541-2A>T) c.455-2A>T (n.455-2A>T) c.4361-2A>T (n.4361-2A>T) | |
1 | g.8355601T>C | CA338168379 | RERE | c.2825-2A>G (n.2825-2A>G) c.4487-2A>G (n.4487-2A>G) c.3683-2A>G (n.3683-2A>G) c.1541-2A>G (n.1541-2A>G) c.455-2A>G (n.455-2A>G) c.4361-2A>G (n.4361-2A>G) | |
1 | g.8355601T>G | CA338168378 | RERE | c.2825-2A>C (n.2825-2A>C) c.4487-2A>C (n.4487-2A>C) c.3683-2A>C (n.3683-2A>C) c.1541-2A>C (n.1541-2A>C) c.455-2A>C (n.455-2A>C) c.4361-2A>C (n.4361-2A>C) | |
1 | g.8355602G>A | CA2643072843 | RERE | c.2825-3C>T (n.2825-3C>T) c.4487-3C>T (n.4487-3C>T) c.3683-3C>T (n.3683-3C>T) c.1541-3C>T (n.1541-3C>T) c.455-3C>T (n.455-3C>T) c.4361-3C>T (n.4361-3C>T) | gnomAD v4 |
1 | g.8355602G>T | CA2643072844 | RERE | c.2825-3C>A (n.2825-3C>A) c.4487-3C>A (n.4487-3C>A) c.3683-3C>A (n.3683-3C>A) c.1541-3C>A (n.1541-3C>A) c.455-3C>A (n.455-3C>A) c.4361-3C>A (n.4361-3C>A) | gnomAD v4 |
1 | g.8355603C= | CA1152318906 | RERE | c.2825-4G= (n.2825-4G=) c.4487-4G= (n.4487-4G=) c.3683-4G= (n.3683-4G=) c.1541-4G= (n.1541-4G=) c.455-4G= (n.455-4G=) c.4361-4G= (n.4361-4G=) | |
1 | g.8355603C>G | CA2574344434 | RERE | c.2825-4G>C (n.2825-4G>C) c.4487-4G>C (n.4487-4G>C) c.3683-4G>C (n.3683-4G>C) c.1541-4G>C (n.1541-4G>C) c.455-4G>C (n.455-4G>C) c.4361-4G>C (n.4361-4G>C) | |
1 | g.8355603C>T | CA521020203 | RERE | c.2825-4G>A (n.2825-4G>A) c.4487-4G>A (n.4487-4G>A) c.3683-4G>A (n.3683-4G>A) c.1541-4G>A (n.1541-4G>A) c.455-4G>A (n.455-4G>A) c.4361-4G>A (n.4361-4G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8355604C>A | CA570760 | RERE | c.2825-5G>T (n.2825-5G>T) c.4487-5G>T (n.4487-5G>T) c.3683-5G>T (n.3683-5G>T) c.1541-5G>T (n.1541-5G>T) c.455-5G>T (n.455-5G>T) c.4361-5G>T (n.4361-5G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8355604C= | CA1152318907 | RERE | c.2825-5G= (n.2825-5G=) c.4487-5G= (n.4487-5G=) c.3683-5G= (n.3683-5G=) c.1541-5G= (n.1541-5G=) c.455-5G= (n.455-5G=) c.4361-5G= (n.4361-5G=) | |
1 | g.8355604C>G | CA998362975 | RERE | c.2825-5G>C (n.2825-5G>C) c.4487-5G>C (n.4487-5G>C) c.3683-5G>C (n.3683-5G>C) c.1541-5G>C (n.1541-5G>C) c.455-5G>C (n.455-5G>C) c.4361-5G>C (n.4361-5G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8355604C>T | CA570761 | RERE | c.2825-5G>A (n.2825-5G>A) c.4487-5G>A (n.4487-5G>A) c.3683-5G>A (n.3683-5G>A) c.1541-5G>A (n.1541-5G>A) c.455-5G>A (n.455-5G>A) c.4361-5G>A (n.4361-5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8355605G>A | CA17687230 | RERE | c.2825-6C>T (n.2825-6C>T) c.4487-6C>T (n.4487-6C>T) c.3683-6C>T (n.3683-6C>T) c.1541-6C>T (n.1541-6C>T) c.455-6C>T (n.455-6C>T) c.4361-6C>T (n.4361-6C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8355605G>C | CA2643072845 | RERE | c.2825-6C>G (n.2825-6C>G) c.4487-6C>G (n.4487-6C>G) c.3683-6C>G (n.3683-6C>G) c.1541-6C>G (n.1541-6C>G) c.455-6C>G (n.455-6C>G) c.4361-6C>G (n.4361-6C>G) | gnomAD v4 |
1 | g.8355605G= | CA1147660645 | RERE | c.2825-6C= (n.2825-6C=) c.4487-6C= (n.4487-6C=) c.3683-6C= (n.3683-6C=) c.1541-6C= (n.1541-6C=) c.455-6C= (n.455-6C=) c.4361-6C= (n.4361-6C=) | |
1 | g.8355605G>T | CA2643072846 | RERE | c.2825-6C>A (n.2825-6C>A) c.4487-6C>A (n.4487-6C>A) c.3683-6C>A (n.3683-6C>A) c.1541-6C>A (n.1541-6C>A) c.455-6C>A (n.455-6C>A) c.4361-6C>A (n.4361-6C>A) | gnomAD v4 |
1 | g.8355606A= | CA1152318908 | RERE | c.2825-7T= (n.2825-7T=) c.4487-7T= (n.4487-7T=) c.3683-7T= (n.3683-7T=) c.1541-7T= (n.1541-7T=) c.455-7T= (n.455-7T=) c.4361-7T= (n.4361-7T=) | |
1 | g.8355606A>G | CA1152318909 | RERE | c.2825-7T>C (n.2825-7T>C) c.4487-7T>C (n.4487-7T>C) c.3683-7T>C (n.3683-7T>C) c.1541-7T>C (n.1541-7T>C) c.455-7T>C (n.455-7T>C) c.4361-7T>C (n.4361-7T>C) | dbSNP gnomAD v4 |
1 | g.8355606A>T | CA2643072847 | RERE | c.2825-7T>A (n.2825-7T>A) c.4487-7T>A (n.4487-7T>A) c.3683-7T>A (n.3683-7T>A) c.1541-7T>A (n.1541-7T>A) c.455-7T>A (n.455-7T>A) c.4361-7T>A (n.4361-7T>A) | gnomAD v4 |
1 | g.8355608C>A | CA2643072848 | RERE | c.2825-9G>T (n.2825-9G>T) c.4487-9G>T (n.4487-9G>T) c.3683-9G>T (n.3683-9G>T) c.1541-9G>T (n.1541-9G>T) c.455-9G>T (n.455-9G>T) c.4361-9G>T (n.4361-9G>T) | gnomAD v4 |
1 | g.8355608C= | CA1152318910 | RERE | c.2825-9G= (n.2825-9G=) c.4487-9G= (n.4487-9G=) c.3683-9G= (n.3683-9G=) c.1541-9G= (n.1541-9G=) c.455-9G= (n.455-9G=) c.4361-9G= (n.4361-9G=) | |
1 | g.8355608C>T | CA521020204 | RERE | c.2825-9G>A (n.2825-9G>A) c.4487-9G>A (n.4487-9G>A) c.3683-9G>A (n.3683-9G>A) c.1541-9G>A (n.1541-9G>A) c.455-9G>A (n.455-9G>A) c.4361-9G>A (n.4361-9G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8355610C>A | CA2643072849 | RERE | c.2825-11G>T (n.2825-11G>T) c.4487-11G>T (n.4487-11G>T) c.3683-11G>T (n.3683-11G>T) c.1541-11G>T (n.1541-11G>T) c.455-11G>T (n.455-11G>T) c.4361-11G>T (n.4361-11G>T) | gnomAD v4 |
1 | g.8355610_8355611delinsCA | CA1152318911 | RERE | c.2825-12_2825-11delinsTG (n.2825-12_2825-11delinsTG) c.4487-12_4487-11delinsTG (n.4487-12_4487-11delinsTG) c.3683-12_3683-11delinsTG (n.3683-12_3683-11delinsTG) c.1541-12_1541-11delinsTG (n.1541-12_1541-11delinsTG) c.455-12_455-11delinsTG (n.455-12_455-11delinsTG) c.4361-12_4361-11delinsTG (n.4361-12_4361-11delinsTG) | |
1 | g.8355611A>G | CA2643072850 | RERE | c.2825-12T>C (n.2825-12T>C) c.4487-12T>C (n.4487-12T>C) c.3683-12T>C (n.3683-12T>C) c.1541-12T>C (n.1541-12T>C) c.455-12T>C (n.455-12T>C) c.4361-12T>C (n.4361-12T>C) | gnomAD v4 |
1 | g.8355614del | CA521020205 | RERE | c.2825-12del (n.2825-12del) c.4487-12del (n.4487-12del) c.3683-12del (n.3683-12del) c.1541-12del (n.1541-12del) c.455-12del (n.455-12del) c.4361-12del (n.4361-12del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8355612A= | CA1152318912 | RERE | c.2825-13T= (n.2825-13T=) c.4487-13T= (n.4487-13T=) c.3683-13T= (n.3683-13T=) c.1541-13T= (n.1541-13T=) c.455-13T= (n.455-13T=) c.4361-13T= (n.4361-13T=) | |
1 | g.8355612A>G | CA998362984 | RERE | c.2825-13T>C (n.2825-13T>C) c.4487-13T>C (n.4487-13T>C) c.3683-13T>C (n.3683-13T>C) c.1541-13T>C (n.1541-13T>C) c.455-13T>C (n.455-13T>C) c.4361-13T>C (n.4361-13T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8355615C>T | CA2643072851 | RERE | c.2825-16G>A (n.2825-16G>A) c.4487-16G>A (n.4487-16G>A) c.3683-16G>A (n.3683-16G>A) c.1541-16G>A (n.1541-16G>A) c.455-16G>A (n.455-16G>A) c.4361-16G>A (n.4361-16G>A) | gnomAD v4 |
1 | g.8355616A= | CA1143663189 | RERE | c.2825-17T= (n.2825-17T=) c.4487-17T= (n.4487-17T=) c.3683-17T= (n.3683-17T=) c.1541-17T= (n.1541-17T=) c.455-17T= (n.455-17T=) c.4361-17T= (n.4361-17T=) | |
1 | g.8355616A>C | CA570762 | RERE | c.2825-17T>G (n.2825-17T>G) c.4487-17T>G (n.4487-17T>G) c.3683-17T>G (n.3683-17T>G) c.1541-17T>G (n.1541-17T>G) c.455-17T>G (n.455-17T>G) c.4361-17T>G (n.4361-17T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8355616A>T | CA2643072852 | RERE | c.2825-17T>A (n.2825-17T>A) c.4487-17T>A (n.4487-17T>A) c.3683-17T>A (n.3683-17T>A) c.1541-17T>A (n.1541-17T>A) c.455-17T>A (n.455-17T>A) c.4361-17T>A (n.4361-17T>A) | gnomAD v4 |
1 | g.8355617A>C | CA2643072853 | RERE | c.2825-18T>G (n.2825-18T>G) c.4487-18T>G (n.4487-18T>G) c.3683-18T>G (n.3683-18T>G) c.1541-18T>G (n.1541-18T>G) c.455-18T>G (n.455-18T>G) c.4361-18T>G (n.4361-18T>G) | gnomAD v4 |
1 | g.8355618C>A | CA2643072854 | RERE | c.2825-19G>T (n.2825-19G>T) c.4487-19G>T (n.4487-19G>T) c.3683-19G>T (n.3683-19G>T) c.1541-19G>T (n.1541-19G>T) c.455-19G>T (n.455-19G>T) c.4361-19G>T (n.4361-19G>T) | gnomAD v4 |
1 | g.8355618C= | CA1152318913 | RERE | c.2825-19G= (n.2825-19G=) c.4487-19G= (n.4487-19G=) c.3683-19G= (n.3683-19G=) c.1541-19G= (n.1541-19G=) c.455-19G= (n.455-19G=) c.4361-19G= (n.4361-19G=) | |
1 | g.8355618C>G | CA2553900312 | RERE | c.2825-19G>C (n.2825-19G>C) c.4487-19G>C (n.4487-19G>C) c.3683-19G>C (n.3683-19G>C) c.1541-19G>C (n.1541-19G>C) c.455-19G>C (n.455-19G>C) c.4361-19G>C (n.4361-19G>C) | |
1 | g.8355618C>T | CA739598173 | RERE | c.2825-19G>A (n.2825-19G>A) c.4487-19G>A (n.4487-19G>A) c.3683-19G>A (n.3683-19G>A) c.1541-19G>A (n.1541-19G>A) c.455-19G>A (n.455-19G>A) c.4361-19G>A (n.4361-19G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8355619C>A | CA2643072855 | RERE | c.2825-20G>T (n.2825-20G>T) c.4487-20G>T (n.4487-20G>T) c.3683-20G>T (n.3683-20G>T) c.1541-20G>T (n.1541-20G>T) c.455-20G>T (n.455-20G>T) c.4361-20G>T (n.4361-20G>T) | gnomAD v4 |
1 | g.8355620T>C | CA739598183 | RERE | c.2825-21A>G (n.2825-21A>G) c.4487-21A>G (n.4487-21A>G) c.3683-21A>G (n.3683-21A>G) c.1541-21A>G (n.1541-21A>G) c.455-21A>G (n.455-21A>G) c.4361-21A>G (n.4361-21A>G) | dbSNP gnomAD v4 |
1 | g.8355620T>G | CA739598191 | RERE | c.2825-21A>C (n.2825-21A>C) c.4487-21A>C (n.4487-21A>C) c.3683-21A>C (n.3683-21A>C) c.1541-21A>C (n.1541-21A>C) c.455-21A>C (n.455-21A>C) c.4361-21A>C (n.4361-21A>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8355620T= | CA1152318914 | RERE | c.2825-21A= (n.2825-21A=) c.4487-21A= (n.4487-21A=) c.3683-21A= (n.3683-21A=) c.1541-21A= (n.1541-21A=) c.455-21A= (n.455-21A=) c.4361-21A= (n.4361-21A=) | |
1 | g.8355621G>A | CA1152318916 | RERE | c.2825-22C>T (n.2825-22C>T) c.4487-22C>T (n.4487-22C>T) c.3683-22C>T (n.3683-22C>T) c.1541-22C>T (n.1541-22C>T) c.455-22C>T (n.455-22C>T) c.4361-22C>T (n.4361-22C>T) | dbSNP |
1 | g.8355621G= | CA1152318915 | RERE | c.2825-22C= (n.2825-22C=) c.4487-22C= (n.4487-22C=) c.3683-22C= (n.3683-22C=) c.1541-22C= (n.1541-22C=) c.455-22C= (n.455-22C=) c.4361-22C= (n.4361-22C=) | |
1 | g.8355621G>T | CA2643072856 | RERE | c.2825-22C>A (n.2825-22C>A) c.4487-22C>A (n.4487-22C>A) c.3683-22C>A (n.3683-22C>A) c.1541-22C>A (n.1541-22C>A) c.455-22C>A (n.455-22C>A) c.4361-22C>A (n.4361-22C>A) | gnomAD v4 |
1 | g.8355622C>A | CA570764 | RERE | c.2825-23G>T (n.2825-23G>T) c.4487-23G>T (n.4487-23G>T) c.3683-23G>T (n.3683-23G>T) c.1541-23G>T (n.1541-23G>T) c.455-23G>T (n.455-23G>T) c.4361-23G>T (n.4361-23G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8355622C= | CA1140611118 | RERE | c.2825-23G= (n.2825-23G=) c.4487-23G= (n.4487-23G=) c.3683-23G= (n.3683-23G=) c.1541-23G= (n.1541-23G=) c.455-23G= (n.455-23G=) c.4361-23G= (n.4361-23G=) | |
1 | g.8355622C>G | CA2581639747 | RERE | c.2825-23G>C (n.2825-23G>C) c.4487-23G>C (n.4487-23G>C) c.3683-23G>C (n.3683-23G>C) c.1541-23G>C (n.1541-23G>C) c.455-23G>C (n.455-23G>C) c.4361-23G>C (n.4361-23G>C) | |
1 | g.8355622C>T | CA570763 | RERE | c.2825-23G>A (n.2825-23G>A) c.4487-23G>A (n.4487-23G>A) c.3683-23G>A (n.3683-23G>A) c.1541-23G>A (n.1541-23G>A) c.455-23G>A (n.455-23G>A) c.4361-23G>A (n.4361-23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8355623G>A | CA570765 | RERE | c.2825-24C>T (n.2825-24C>T) c.4487-24C>T (n.4487-24C>T) c.3683-24C>T (n.3683-24C>T) c.1541-24C>T (n.1541-24C>T) c.455-24C>T (n.455-24C>T) c.4361-24C>T (n.4361-24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8355623G= | CA1144021855 | RERE | c.2825-24C= (n.2825-24C=) c.4487-24C= (n.4487-24C=) c.3683-24C= (n.3683-24C=) c.1541-24C= (n.1541-24C=) c.455-24C= (n.455-24C=) c.4361-24C= (n.4361-24C=) | |
1 | g.8355623G>T | CA998362991 | RERE | c.2825-24C>A (n.2825-24C>A) c.4487-24C>A (n.4487-24C>A) c.3683-24C>A (n.3683-24C>A) c.1541-24C>A (n.1541-24C>A) c.455-24C>A (n.455-24C>A) c.4361-24C>A (n.4361-24C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8355624C>A | CA2643072857 | RERE | c.2825-25G>T (n.2825-25G>T) c.4487-25G>T (n.4487-25G>T) c.3683-25G>T (n.3683-25G>T) c.1541-25G>T (n.1541-25G>T) c.455-25G>T (n.455-25G>T) c.4361-25G>T (n.4361-25G>T) | gnomAD v4 |
1 | g.8355624C= | CA1152318917 | RERE | c.2825-25G= (n.2825-25G=) c.4487-25G= (n.4487-25G=) c.3683-25G= (n.3683-25G=) c.1541-25G= (n.1541-25G=) c.455-25G= (n.455-25G=) c.4361-25G= (n.4361-25G=) | |
1 | g.8355624C>T | CA570766 | RERE | c.2825-25G>A (n.2825-25G>A) c.4487-25G>A (n.4487-25G>A) c.3683-25G>A (n.3683-25G>A) c.1541-25G>A (n.1541-25G>A) c.455-25G>A (n.455-25G>A) c.4361-25G>A (n.4361-25G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |