OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.129558889_129563134del | CA347331 | OCRL | c.*902_*1536+348del c.727_1361+348del c.610_1244+348del c.658_1292+348del c.261_895+348del c.139_773+348del c.613_1247+348del c.466_1100+348del | ClinVar |
| X | g.129562388A= | CA2458099444 | OCRL | c.*1236A= (n.*1236A=) c.1061A= c.944A= (p.Gln315=) c.992A= c.55A= c.595A= c.473A= (p.Gln158=) c.947A= (p.Gln316=) c.800A= (p.Gln267=) | |
| X | g.129562388A>C | CA414552456 | OCRL | c.*1236A>C (n.*1236A>C) c.1061A>C c.944A>C (p.Gln315Pro) c.992A>C c.55A>C c.595A>C c.473A>C (p.Gln158Pro) c.947A>C (p.Gln316Pro) c.800A>C (p.Gln267Pro) | |
| X | g.129562388A>G | CA10512119 | OCRL | c.*1236A>G (n.*1236A>G) c.1061A>G c.944A>G (p.Gln315Arg) c.992A>G c.55A>G c.595A>G c.473A>G (p.Gln158Arg) c.947A>G (p.Gln316Arg) c.800A>G (p.Gln267Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.129562388A>T | CA414552457 | OCRL | c.*1236A>T (n.*1236A>T) c.1061A>T c.944A>T (p.Gln315Leu) c.992A>T c.55A>T c.595A>T c.473A>T (p.Gln158Leu) c.947A>T (p.Gln316Leu) c.800A>T (p.Gln267Leu) | |
| X | g.129562389A= | CA2458099445 | OCRL | c.*1237A= (n.*1237A=) c.1062A= c.945A= (p.Gln315=) c.993A= c.56A= c.596A= c.474A= (p.Gln158=) c.948A= (p.Gln316=) c.801A= (p.Gln267=) | |
| X | g.129562389A>C | CA414552458 | OCRL | c.*1237A>C (n.*1237A>C) c.1062A>C c.945A>C (p.Gln315His) c.993A>C c.56A>C c.596A>C c.474A>C (p.Gln158His) c.948A>C (p.Gln316His) c.801A>C (p.Gln267His) | |
| X | g.129562389A>G | CA518471056 | OCRL | c.*1237A>G (n.*1237A>G) c.1062A>G c.945A>G (p.Gln315=) c.993A>G c.56A>G c.596A>G c.474A>G (p.Gln158=) c.948A>G (p.Gln316=) c.801A>G (p.Gln267=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.129562389A>T | CA414552459 | OCRL | c.*1237A>T (n.*1237A>T) c.1062A>T c.945A>T (p.Gln315His) c.993A>T c.56A>T c.596A>T c.474A>T (p.Gln158His) c.948A>T (p.Gln316His) c.801A>T (p.Gln267His) | |
| X | g.129562390C>A | CA414552460 | OCRL | c.*1238C>A (n.*1238C>A) c.1063C>A c.946C>A (p.Leu316Met) c.994C>A c.57C>A c.597C>A c.475C>A (p.Leu159Met) c.949C>A (p.Leu317Met) c.802C>A (p.Leu268Met) | gnomAD v4 |
| X | g.129562390C= | CA2458099446 | OCRL | c.*1238C= (n.*1238C=) c.1063C= c.946C= (p.Leu316=) c.994C= c.57C= c.597C= c.475C= (p.Leu159=) c.949C= (p.Leu317=) c.802C= (p.Leu268=) | |
| X | g.129562390C>G | CA414552461 | OCRL | c.*1238C>G (n.*1238C>G) c.1063C>G c.946C>G (p.Leu316Val) c.994C>G c.57C>G c.597C>G c.475C>G (p.Leu159Val) c.949C>G (p.Leu317Val) c.802C>G (p.Leu268Val) | ClinVar |
| X | g.129562390C>T | CA10512120 | OCRL | c.*1238C>T (n.*1238C>T) c.1063C>T c.946C>T (p.Leu316=) c.994C>T c.57C>T c.597C>T c.475C>T (p.Leu159=) c.949C>T (p.Leu317=) c.802C>T (p.Leu268=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.129562391T>A | CA414552462 | OCRL | c.*1239T>A (n.*1239T>A) c.1064T>A c.947T>A (p.Leu316Gln) c.995T>A c.58T>A c.598T>A c.476T>A (p.Leu159Gln) c.950T>A (p.Leu317Gln) c.803T>A (p.Leu268Gln) | |
| X | g.129562391T>C | CA414552463 | OCRL | c.*1239T>C (n.*1239T>C) c.1064T>C c.947T>C (p.Leu316Pro) c.995T>C c.58T>C c.598T>C c.476T>C (p.Leu159Pro) c.950T>C (p.Leu317Pro) c.803T>C (p.Leu268Pro) | |
| X | g.129562391T>G | CA414552464 | OCRL | c.*1239T>G (n.*1239T>G) c.1064T>G c.947T>G (p.Leu316Arg) c.995T>G c.58T>G c.598T>G c.476T>G (p.Leu159Arg) c.950T>G (p.Leu317Arg) c.803T>G (p.Leu268Arg) | |
| X | g.129562392G>A | CA518471060 | OCRL | c.*1240G>A (n.*1240G>A) c.1065G>A c.948G>A (p.Leu316=) c.996G>A c.59G>A c.599G>A c.477G>A (p.Leu159=) c.951G>A (p.Leu317=) c.804G>A (p.Leu268=) | |
| X | g.129562392G>C | CA518471061 | OCRL | c.*1240G>C (n.*1240G>C) c.1065G>C c.948G>C (p.Leu316=) c.996G>C c.59G>C c.599G>C c.477G>C (p.Leu159=) c.951G>C (p.Leu317=) c.804G>C (p.Leu268=) | |
| X | g.129562392G>T | CA518471062 | OCRL | c.*1240G>T (n.*1240G>T) c.1065G>T c.948G>T (p.Leu316=) c.996G>T c.59G>T c.599G>T c.477G>T (p.Leu159=) c.951G>T (p.Leu317=) c.804G>T (p.Leu268=) | |
| X | g.129562393del | CA2579697909 | OCRL | c.*1241del (n.*1241del) c.1066del c.949del (p.Val317CysfsTer6) c.997del c.60del c.600del c.478del (p.Val160CysfsTer6) c.952del (p.Val318CysfsTer6) c.805del (p.Val269CysfsTer6) | |
| X | g.129562393G>A | CA414552465 | OCRL | c.*1241G>A (n.*1241G>A) c.1066G>A c.949G>A (p.Val317Met) c.997G>A c.60G>A c.600G>A c.478G>A (p.Val160Met) c.952G>A (p.Val318Met) c.805G>A (p.Val269Met) | |
| X | g.129562393G>C | CA414552466 | OCRL | c.*1241G>C (n.*1241G>C) c.1066G>C c.949G>C (p.Val317Leu) c.997G>C c.60G>C c.600G>C c.478G>C (p.Val160Leu) c.952G>C (p.Val318Leu) c.805G>C (p.Val269Leu) | |
| X | g.129562393G>T | CA414552467 | OCRL | c.*1241G>T (n.*1241G>T) c.1066G>T c.949G>T (p.Val317Leu) c.997G>T c.60G>T c.600G>T c.478G>T (p.Val160Leu) c.952G>T (p.Val318Leu) c.805G>T (p.Val269Leu) | |
| X | g.129562394T>A | CA414552468 | OCRL | c.*1242T>A (n.*1242T>A) c.1067T>A c.950T>A (p.Val317Glu) c.998T>A c.61T>A c.601T>A c.479T>A (p.Val160Glu) c.953T>A (p.Val318Glu) c.806T>A (p.Val269Glu) | |
| X | g.129562394T>C | CA414552469 | OCRL | c.*1242T>C (n.*1242T>C) c.1067T>C c.950T>C (p.Val317Ala) c.998T>C c.61T>C c.601T>C c.479T>C (p.Val160Ala) c.953T>C (p.Val318Ala) c.806T>C (p.Val269Ala) | |
| X | g.129562394T>G | CA414552470 | OCRL | c.*1242T>G (n.*1242T>G) c.1067T>G c.950T>G (p.Val317Gly) c.998T>G c.61T>G c.601T>G c.479T>G (p.Val160Gly) c.953T>G (p.Val318Gly) c.806T>G (p.Val269Gly) | |
| X | g.129562395G>A | CA518471068 | OCRL | c.*1243G>A (n.*1243G>A) c.1068G>A c.951G>A (p.Val317=) c.999G>A c.62G>A c.602G>A c.480G>A (p.Val160=) c.954G>A (p.Val318=) c.807G>A (p.Val269=) | |
| X | g.129562395G>C | CA518471069 | OCRL | c.*1243G>C (n.*1243G>C) c.1068G>C c.951G>C (p.Val317=) c.999G>C c.62G>C c.602G>C c.480G>C (p.Val160=) c.954G>C (p.Val318=) c.807G>C (p.Val269=) | |
| X | g.129562395G>T | CA518471071 | OCRL | c.*1243G>T (n.*1243G>T) c.1068G>T c.951G>T (p.Val317=) c.999G>T c.62G>T c.602G>T c.480G>T (p.Val160=) c.954G>T (p.Val318=) c.807G>T (p.Val269=) | |
| X | g.129562396C>A | CA414552471 | OCRL | c.*1244C>A (n.*1244C>A) c.1069C>A c.952C>A (p.Arg318Ser) c.1000C>A c.63C>A c.603C>A c.481C>A (p.Arg161Ser) c.955C>A (p.Arg319Ser) c.808C>A (p.Arg270Ser) | ClinVar dbSNP |
| X | g.129562396C= | CA2458099447 | OCRL | c.*1244C= (n.*1244C=) c.1069C= c.952C= (p.Arg318=) c.1000C= c.63C= c.603C= c.481C= (p.Arg161=) c.955C= (p.Arg319=) c.808C= (p.Arg270=) | |
| X | g.129562396C>G | CA414552472 | OCRL | c.*1244C>G (n.*1244C>G) c.1069C>G c.952C>G (p.Arg318Gly) c.1000C>G c.63C>G c.603C>G c.481C>G (p.Arg161Gly) c.955C>G (p.Arg319Gly) c.808C>G (p.Arg270Gly) | |
| X | g.129562396C>T | CA266168 | OCRL | c.*1244C>T (n.*1244C>T) c.1069C>T c.952C>T (p.Arg318Cys) c.1000C>T c.63C>T c.603C>T c.481C>T (p.Arg161Cys) c.955C>T (p.Arg319Cys) c.808C>T (p.Arg270Cys) | ClinVar dbSNP COSMIC |
| X | g.129562397G>A | CA414552473 | OCRL | c.*1245G>A (n.*1245G>A) c.1070G>A c.953G>A (p.Arg318His) c.1001G>A c.64G>A c.604G>A c.482G>A (p.Arg161His) c.956G>A (p.Arg319His) c.809G>A (p.Arg270His) | ClinVar dbSNP |
| X | g.129562397G>C | CA414552474 | OCRL | c.*1245G>C (n.*1245G>C) c.1070G>C c.953G>C (p.Arg318Pro) c.1001G>C c.64G>C c.604G>C c.482G>C (p.Arg161Pro) c.956G>C (p.Arg319Pro) c.809G>C (p.Arg270Pro) | |
| X | g.129562397G>T | CA414552475 | OCRL | c.*1245G>T (n.*1245G>T) c.1070G>T c.953G>T (p.Arg318Leu) c.1001G>T c.64G>T c.604G>T c.482G>T (p.Arg161Leu) c.956G>T (p.Arg319Leu) c.809G>T (p.Arg270Leu) | |
| X | g.129562398C>A | CA518471075 | OCRL | c.*1246C>A (n.*1246C>A) c.1071C>A c.954C>A (p.Arg318=) c.1002C>A c.65C>A c.605C>A c.483C>A (p.Arg161=) c.957C>A (p.Arg319=) c.810C>A (p.Arg270=) | |
| X | g.129562398C= | CA2458099448 | OCRL | c.*1246C= (n.*1246C=) c.1071C= c.954C= (p.Arg318=) c.1002C= c.65C= c.605C= c.483C= (p.Arg161=) c.957C= (p.Arg319=) c.810C= (p.Arg270=) | |
| X | g.129562398C>G | CA518471076 | OCRL | c.*1246C>G (n.*1246C>G) c.1071C>G c.954C>G (p.Arg318=) c.1002C>G c.65C>G c.605C>G c.483C>G (p.Arg161=) c.957C>G (p.Arg319=) c.810C>G (p.Arg270=) | |
| X | g.129562398C>T | CA206830 | OCRL | c.*1246C>T (n.*1246C>T) c.1071C>T c.954C>T (p.Arg318=) c.1002C>T c.65C>T c.605C>T c.483C>T (p.Arg161=) c.957C>T (p.Arg319=) c.810C>T (p.Arg270=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.129562399C>A | CA414552476 | OCRL | c.*1247C>A (n.*1247C>A) c.1072C>A c.955C>A (p.Leu319Ile) c.1003C>A c.66C>A c.606C>A c.484C>A (p.Leu162Ile) c.958C>A (p.Leu320Ile) c.811C>A (p.Leu271Ile) | |
| X | g.129562399C>G | CA414552477 | OCRL | c.*1247C>G (n.*1247C>G) c.1072C>G c.955C>G (p.Leu319Val) c.1003C>G c.66C>G c.606C>G c.484C>G (p.Leu162Val) c.958C>G (p.Leu320Val) c.811C>G (p.Leu271Val) | |
| X | g.129562399C>T | CA414552478 | OCRL | c.*1247C>T (n.*1247C>T) c.1072C>T c.955C>T (p.Leu319Phe) c.1003C>T c.66C>T c.606C>T c.484C>T (p.Leu162Phe) c.958C>T (p.Leu320Phe) c.811C>T (p.Leu271Phe) | |
| X | g.129562400T>A | CA414552479 | OCRL | c.*1248T>A (n.*1248T>A) c.1073T>A c.956T>A (p.Leu319His) c.1004T>A c.67T>A c.607T>A c.485T>A (p.Leu162His) c.959T>A (p.Leu320His) c.812T>A (p.Leu271His) | |
| X | g.129562400T>C | CA414552480 | OCRL | c.*1248T>C (n.*1248T>C) c.1073T>C c.956T>C (p.Leu319Pro) c.1004T>C c.67T>C c.607T>C c.485T>C (p.Leu162Pro) c.959T>C (p.Leu320Pro) c.812T>C (p.Leu271Pro) | |
| X | g.129562400T>G | CA414552481 | OCRL | c.*1248T>G (n.*1248T>G) c.1073T>G c.956T>G (p.Leu319Arg) c.1004T>G c.67T>G c.607T>G c.485T>G (p.Leu162Arg) c.959T>G (p.Leu320Arg) c.812T>G (p.Leu271Arg) | |
| X | g.129562401T>A | CA518471084 | OCRL | c.*1249T>A (n.*1249T>A) c.1074T>A c.957T>A (p.Leu319=) c.1005T>A c.68T>A c.608T>A c.486T>A (p.Leu162=) c.960T>A (p.Leu320=) c.813T>A (p.Leu271=) | |
| X | g.129562401T>C | CA518471085 | OCRL | c.*1249T>C (n.*1249T>C) c.1074T>C c.957T>C (p.Leu319=) c.1005T>C c.68T>C c.608T>C c.486T>C (p.Leu162=) c.960T>C (p.Leu320=) c.813T>C (p.Leu271=) | gnomAD v4 |
| X | g.129562401T>G | CA518471086 | OCRL | c.*1249T>G (n.*1249T>G) c.1074T>G c.957T>G (p.Leu319=) c.1005T>G c.68T>G c.608T>G c.486T>G (p.Leu162=) c.960T>G (p.Leu320=) c.813T>G (p.Leu271=) | |
| X | g.129562402G>A | CA414552483 | OCRL | c.*1250G>A (n.*1250G>A) c.1075G>A c.958G>A (p.Val320Ile) c.1006G>A c.69G>A c.609G>A c.487G>A (p.Val163Ile) c.961G>A (p.Val321Ile) c.814G>A (p.Val272Ile) | |
| X | g.129562402G>C | CA414552484 | OCRL | c.*1250G>C (n.*1250G>C) c.1075G>C c.958G>C (p.Val320Leu) c.1006G>C c.69G>C c.609G>C c.487G>C (p.Val163Leu) c.961G>C (p.Val321Leu) c.814G>C (p.Val272Leu) | |
| X | g.129562402G>T | CA414552482 | OCRL | c.*1250G>T (n.*1250G>T) c.1075G>T c.958G>T (p.Val320Phe) c.1006G>T c.69G>T c.609G>T c.487G>T (p.Val163Phe) c.961G>T (p.Val321Phe) c.814G>T (p.Val272Phe) | |
| X | g.129562403T>A | CA414552485 | OCRL | c.*1251T>A (n.*1251T>A) c.1076T>A c.959T>A (p.Val320Asp) c.1007T>A c.70T>A c.610T>A c.488T>A (p.Val163Asp) c.962T>A (p.Val321Asp) c.815T>A (p.Val272Asp) | |
| X | g.129562403T>C | CA414552486 | OCRL | c.*1251T>C (n.*1251T>C) c.1076T>C c.959T>C (p.Val320Ala) c.1007T>C c.70T>C c.610T>C c.488T>C (p.Val163Ala) c.962T>C (p.Val321Ala) c.815T>C (p.Val272Ala) | |
| X | g.129562403T>G | CA414552487 | OCRL | c.*1251T>G (n.*1251T>G) c.1076T>G c.959T>G (p.Val320Gly) c.1007T>G c.70T>G c.610T>G c.488T>G (p.Val163Gly) c.962T>G (p.Val321Gly) c.815T>G (p.Val272Gly) | |
| X | g.129562404T>A | CA518471090 | OCRL | c.*1252T>A (n.*1252T>A) c.1077T>A c.960T>A (p.Val320=) c.1008T>A c.71T>A c.611T>A c.489T>A (p.Val163=) c.963T>A (p.Val321=) c.816T>A (p.Val272=) | |
| X | g.129562404T>C | CA518471089 | OCRL | c.*1252T>C (n.*1252T>C) c.1077T>C c.960T>C (p.Val320=) c.1008T>C c.71T>C c.611T>C c.489T>C (p.Val163=) c.963T>C (p.Val321=) c.816T>C (p.Val272=) | |
| X | g.129562404T>G | CA518471088 | OCRL | c.*1252T>G (n.*1252T>G) c.1077T>G c.960T>G (p.Val320=) c.1008T>G c.71T>G c.611T>G c.489T>G (p.Val163=) c.963T>G (p.Val321=) c.816T>G (p.Val272=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.129562404T= | CA2458099449 | OCRL | c.*1252T= (n.*1252T=) c.1077T= c.960T= (p.Val320=) c.1008T= c.71T= c.611T= c.489T= (p.Val163=) c.963T= (p.Val321=) c.816T= (p.Val272=) | |
| X | g.129562405G>A | CA414552488 | OCRL | c.*1253G>A (n.*1253G>A) c.1078G>A c.961G>A (p.Gly321Arg) c.1009G>A c.72G>A c.612G>A c.490G>A (p.Gly164Arg) c.964G>A (p.Gly322Arg) c.817G>A (p.Gly273Arg) | |
| X | g.129562405G>C | CA414552489 | OCRL | c.*1253G>C (n.*1253G>C) c.1078G>C c.961G>C (p.Gly321Arg) c.1009G>C c.72G>C c.612G>C c.490G>C (p.Gly164Arg) c.964G>C (p.Gly322Arg) c.817G>C (p.Gly273Arg) | |
| X | g.129562405G>T | CA414552490 | OCRL | c.*1253G>T (n.*1253G>T) c.1078G>T c.961G>T (p.Gly321Trp) c.1009G>T c.72G>T c.612G>T c.490G>T (p.Gly164Trp) c.964G>T (p.Gly322Trp) c.817G>T (p.Gly273Trp) | COSMIC |
| X | g.129562406G>A | CA414552491 | OCRL | c.*1254G>A (n.*1254G>A) c.1079G>A c.962G>A (p.Gly321Glu) c.1010G>A c.73G>A c.613G>A c.491G>A (p.Gly164Glu) c.965G>A (p.Gly322Glu) c.818G>A (p.Gly273Glu) | |
| X | g.129562406G>C | CA414552493 | OCRL | c.*1254G>C (n.*1254G>C) c.1079G>C c.962G>C (p.Gly321Ala) c.1010G>C c.73G>C c.613G>C c.491G>C (p.Gly164Ala) c.965G>C (p.Gly322Ala) c.818G>C (p.Gly273Ala) | |
| X | g.129562406G>T | CA414552492 | OCRL | c.*1254G>T (n.*1254G>T) c.1079G>T c.962G>T (p.Gly321Val) c.1010G>T c.73G>T c.613G>T c.491G>T (p.Gly164Val) c.965G>T (p.Gly322Val) c.818G>T (p.Gly273Val) | |
| X | g.129562407G>A | CA10512121 | OCRL | c.*1255G>A (n.*1255G>A) c.1080G>A c.963G>A (p.Gly321=) c.1011G>A c.74G>A c.614G>A c.492G>A (p.Gly164=) c.966G>A (p.Gly322=) c.819G>A (p.Gly273=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.129562407G>C | CA518471096 | OCRL | c.*1255G>C (n.*1255G>C) c.1080G>C c.963G>C (p.Gly321=) c.1011G>C c.74G>C c.614G>C c.492G>C (p.Gly164=) c.966G>C (p.Gly322=) c.819G>C (p.Gly273=) | |
| X | g.129562407G= | CA2458099450 | OCRL | c.*1255G= (n.*1255G=) c.1080G= c.963G= (p.Gly321=) c.1011G= c.74G= c.614G= c.492G= (p.Gly164=) c.966G= (p.Gly322=) c.819G= (p.Gly273=) | |
| X | g.129562407G>T | CA518471098 | OCRL | c.*1255G>T (n.*1255G>T) c.1080G>T c.963G>T (p.Gly321=) c.1011G>T c.74G>T c.614G>T c.492G>T (p.Gly164=) c.966G>T (p.Gly322=) c.819G>T (p.Gly273=) | |
| X | g.129562408A= | CA2458099451 | OCRL | c.*1256A= (n.*1256A=) c.1081A= c.964A= (p.Met322=) c.1012A= c.75A= c.615A= c.493A= (p.Met165=) c.967A= (p.Met323=) c.820A= (p.Met274=) | |
| X | g.129562408A>C | CA414552494 | OCRL | c.*1256A>C (n.*1256A>C) c.1081A>C c.964A>C (p.Met322Leu) c.1012A>C c.75A>C c.615A>C c.493A>C (p.Met165Leu) c.967A>C (p.Met323Leu) c.820A>C (p.Met274Leu) | |
| X | g.129562408A>G | CA414552495 | OCRL | c.*1256A>G (n.*1256A>G) c.1081A>G c.964A>G (p.Met322Val) c.1012A>G c.75A>G c.615A>G c.493A>G (p.Met165Val) c.967A>G (p.Met323Val) c.820A>G (p.Met274Val) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.129562408A>T | CA414552496 | OCRL | c.*1256A>T (n.*1256A>T) c.1081A>T c.964A>T (p.Met322Leu) c.1012A>T c.75A>T c.615A>T c.493A>T (p.Met165Leu) c.967A>T (p.Met323Leu) c.820A>T (p.Met274Leu) | gnomAD v4 |
| X | g.129562409T>A | CA414552497 | OCRL | c.*1257T>A (n.*1257T>A) c.1082T>A c.965T>A (p.Met322Lys) c.1013T>A c.76T>A c.616T>A c.494T>A (p.Met165Lys) c.968T>A (p.Met323Lys) c.821T>A (p.Met274Lys) | |
| X | g.129562409T>C | CA414552499 | OCRL | c.*1257T>C (n.*1257T>C) c.1082T>C c.965T>C (p.Met322Thr) c.1013T>C c.76T>C c.616T>C c.494T>C (p.Met165Thr) c.968T>C (p.Met323Thr) c.821T>C (p.Met274Thr) | |
| X | g.129562409T>G | CA414552498 | OCRL | c.*1257T>G (n.*1257T>G) c.1082T>G c.965T>G (p.Met322Arg) c.1013T>G c.76T>G c.616T>G c.494T>G (p.Met165Arg) c.968T>G (p.Met323Arg) c.821T>G (p.Met274Arg) | |
| X | g.129562410G>A | CA414552500 | OCRL | c.*1258G>A (n.*1258G>A) c.1083G>A c.966G>A (p.Met322Ile) c.1014G>A c.77G>A c.617G>A c.495G>A (p.Met165Ile) c.969G>A (p.Met323Ile) c.822G>A (p.Met274Ile) | gnomAD v4 |
| X | g.129562410G>C | CA414552501 | OCRL | c.*1258G>C (n.*1258G>C) c.1083G>C c.966G>C (p.Met322Ile) c.1014G>C c.77G>C c.617G>C c.495G>C (p.Met165Ile) c.969G>C (p.Met323Ile) c.822G>C (p.Met274Ile) | |
| X | g.129562410G>T | CA414552502 | OCRL | c.*1258G>T (n.*1258G>T) c.1083G>T c.966G>T (p.Met322Ile) c.1014G>T c.77G>T c.617G>T c.495G>T (p.Met165Ile) c.969G>T (p.Met323Ile) c.822G>T (p.Met274Ile) | |
| X | g.129562411A>C | CA414552503 | OCRL | c.*1259A>C (n.*1259A>C) c.1084A>C c.967A>C (p.Met323Leu) c.1015A>C c.78A>C c.618A>C c.496A>C (p.Met166Leu) c.970A>C (p.Met324Leu) c.823A>C (p.Met275Leu) | |
| X | g.129562411A>G | CA414552504 | OCRL | c.*1259A>G (n.*1259A>G) c.1084A>G c.967A>G (p.Met323Val) c.1015A>G c.78A>G c.618A>G c.496A>G (p.Met166Val) c.970A>G (p.Met324Val) c.823A>G (p.Met275Val) | |
| X | g.129562411A>T | CA414552505 | OCRL | c.*1259A>T (n.*1259A>T) c.1084A>T c.967A>T (p.Met323Leu) c.1015A>T c.78A>T c.618A>T c.496A>T (p.Met166Leu) c.970A>T (p.Met324Leu) c.823A>T (p.Met275Leu) | |
| X | g.129562412T>A | CA414552506 | OCRL | c.*1260T>A (n.*1260T>A) c.1085T>A c.968T>A (p.Met323Lys) c.1016T>A c.79T>A c.619T>A c.497T>A (p.Met166Lys) c.971T>A (p.Met324Lys) c.824T>A (p.Met275Lys) | |
| X | g.129562412T>C | CA414552507 | OCRL | c.*1260T>C (n.*1260T>C) c.1085T>C c.968T>C (p.Met323Thr) c.1016T>C c.79T>C c.619T>C c.497T>C (p.Met166Thr) c.971T>C (p.Met324Thr) c.824T>C (p.Met275Thr) | |
| X | g.129562412T>G | CA414552508 | OCRL | c.*1260T>G (n.*1260T>G) c.1085T>G c.968T>G (p.Met323Arg) c.1016T>G c.79T>G c.619T>G c.497T>G (p.Met166Arg) c.971T>G (p.Met324Arg) c.824T>G (p.Met275Arg) | |
| X | g.129562412_129562429delinsTGCTTCTTATATTTGCCA | CA2458099452 | OCRL | c.*1260_*1277delinsTGCTTCTTATATTTGCCA (n.*1260_*1277delinsTGCTTCTTATATTTGCCA) c.1085_1102delinsTGCTTCTTATATTTGCCA c.968_985delinsTGCTTCTTATATTTGCCA (p.Met323=) c.1016_1033delinsTGCTTCTTATATTTGCCA c.79_96delinsTGCTTCTTATATTTGCCA c.619_636delinsTGCTTCTTATATTTGCCA c.497_514delinsTGCTTCTTATATTTGCCA (p.Met166=) c.971_988delinsTGCTTCTTATATTTGCCA (p.Met324=) c.824_841delinsTGCTTCTTATATTTGCCA (p.Met275=) | |
| X | g.129562413G>A | CA414552509 | OCRL | c.*1261G>A (n.*1261G>A) c.1086G>A c.969G>A (p.Met323Ile) c.1017G>A c.80G>A c.620G>A c.498G>A (p.Met166Ile) c.972G>A (p.Met324Ile) c.825G>A (p.Met275Ile) | |
| X | g.129562413G>C | CA414552510 | OCRL | c.*1261G>C (n.*1261G>C) c.1086G>C c.969G>C (p.Met323Ile) c.1017G>C c.80G>C c.620G>C c.498G>C (p.Met166Ile) c.972G>C (p.Met324Ile) c.825G>C (p.Met275Ile) | |
| X | g.129562413G>T | CA414552511 | OCRL | c.*1261G>T (n.*1261G>T) c.1086G>T c.969G>T (p.Met323Ile) c.1017G>T c.80G>T c.620G>T c.498G>T (p.Met166Ile) c.972G>T (p.Met324Ile) c.825G>T (p.Met275Ile) | |
| X | g.129562413_129562416delinsGCTT | CA2458099453 | OCRL | c.*1261_*1264delinsGCTT (n.*1261_*1264delinsGCTT) c.1086_1089delinsGCTT c.969_972delinsGCTT (p.Met323=) c.1017_1020delinsGCTT c.80_83delinsGCTT c.620_623delinsGCTT c.498_501delinsGCTT (p.Met166=) c.972_975delinsGCTT (p.Met324=) c.825_828delinsGCTT (p.Met275=) | |
| X | g.129562414_129562430del | CA658799856 | OCRL | c.*1262_*1278del (n.*1262_*1278del) c.1087_1103del c.970_986del (p.Leu324LysfsTer9) c.1018_1034del c.81_97del c.621_637del c.499_515del (p.Leu167LysfsTer9) c.973_989del (p.Leu325LysfsTer9) c.826_842del (p.Leu276LysfsTer9) | ClinVar dbSNP |
| X | g.129562414C>A | CA414552514 | OCRL | c.*1262C>A (n.*1262C>A) c.1087C>A c.970C>A (p.Leu324Ile) c.1018C>A c.81C>A c.621C>A c.499C>A (p.Leu167Ile) c.973C>A (p.Leu325Ile) c.826C>A (p.Leu276Ile) | dbSNP gnomAD v2 |
| X | g.129562414C= | CA2458099454 | OCRL | c.*1262C= (n.*1262C=) c.1087C= c.970C= (p.Leu324=) c.1018C= c.81C= c.621C= c.499C= (p.Leu167=) c.973C= (p.Leu325=) c.826C= (p.Leu276=) | |
| X | g.129562414C>G | CA414552513 | OCRL | c.*1262C>G (n.*1262C>G) c.1087C>G c.970C>G (p.Leu324Val) c.1018C>G c.81C>G c.621C>G c.499C>G (p.Leu167Val) c.973C>G (p.Leu325Val) c.826C>G (p.Leu276Val) | |
| X | g.129562414C>T | CA414552512 | OCRL | c.*1262C>T (n.*1262C>T) c.1087C>T c.970C>T (p.Leu324Phe) c.1018C>T c.81C>T c.621C>T c.499C>T (p.Leu167Phe) c.973C>T (p.Leu325Phe) c.826C>T (p.Leu276Phe) | |
| X | g.129562417_129562419del | CA234447 | OCRL | c.*1265_*1267del (n.*1265_*1267del) c.1090_1092del c.973_975del (p.Leu325del) c.1021_1023del c.84_86del c.624_626del c.502_504del (p.Leu168del) c.976_978del (p.Leu326del) c.829_831del (p.Leu277del) | ClinVar dbSNP |
| X | g.129562415T>A | CA414552515 | OCRL | c.*1263T>A (n.*1263T>A) c.1088T>A c.971T>A (p.Leu324His) c.1019T>A c.82T>A c.622T>A c.500T>A (p.Leu167His) c.974T>A (p.Leu325His) c.827T>A (p.Leu276His) | |
| X | g.129562415T>C | CA414552516 | OCRL | c.*1263T>C (n.*1263T>C) c.1088T>C c.971T>C (p.Leu324Pro) c.1019T>C c.82T>C c.622T>C c.500T>C (p.Leu167Pro) c.974T>C (p.Leu325Pro) c.827T>C (p.Leu276Pro) | |
| X | g.129562415T>G | CA414552517 | OCRL | c.*1263T>G (n.*1263T>G) c.1088T>G c.971T>G (p.Leu324Arg) c.1019T>G c.82T>G c.622T>G c.500T>G (p.Leu167Arg) c.974T>G (p.Leu325Arg) c.827T>G (p.Leu276Arg) | |
| X | g.129562416T>A | CA518471114 | OCRL | c.*1264T>A (n.*1264T>A) c.1089T>A c.972T>A (p.Leu324=) c.1020T>A c.83T>A c.623T>A c.501T>A (p.Leu167=) c.975T>A (p.Leu325=) c.828T>A (p.Leu276=) | |
| X | g.129562416T>C | CA518471116 | OCRL | c.*1264T>C (n.*1264T>C) c.1089T>C c.972T>C (p.Leu324=) c.1020T>C c.83T>C c.623T>C c.501T>C (p.Leu167=) c.975T>C (p.Leu325=) c.828T>C (p.Leu276=) | |
| X | g.129562416T>G | CA518471118 | OCRL | c.*1264T>G (n.*1264T>G) c.1089T>G c.972T>G (p.Leu324=) c.1020T>G c.83T>G c.623T>G c.501T>G (p.Leu167=) c.975T>G (p.Leu325=) c.828T>G (p.Leu276=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.129562416T= | CA2458099455 | OCRL | c.*1264T= (n.*1264T=) c.1089T= c.972T= (p.Leu324=) c.1020T= c.83T= c.623T= c.501T= (p.Leu167=) c.975T= (p.Leu325=) c.828T= (p.Leu276=) | |
| X | g.129562417C>A | CA414552518 | OCRL | c.*1265C>A (n.*1265C>A) c.1090C>A c.973C>A (p.Leu325Ile) c.1021C>A c.84C>A c.624C>A c.502C>A (p.Leu168Ile) c.976C>A (p.Leu326Ile) c.829C>A (p.Leu277Ile) | |
| X | g.129562417C>G | CA414552519 | OCRL | c.*1265C>G (n.*1265C>G) c.1090C>G c.973C>G (p.Leu325Val) c.1021C>G c.84C>G c.624C>G c.502C>G (p.Leu168Val) c.976C>G (p.Leu326Val) c.829C>G (p.Leu277Val) | |
| X | g.129562417C>T | CA414552520 | OCRL | c.*1265C>T (n.*1265C>T) c.1090C>T c.973C>T (p.Leu325Phe) c.1021C>T c.84C>T c.624C>T c.502C>T (p.Leu168Phe) c.976C>T (p.Leu326Phe) c.829C>T (p.Leu277Phe) | |
| X | g.129562418T>A | CA414552522 | OCRL | c.*1266T>A (n.*1266T>A) c.1091T>A c.974T>A (p.Leu325His) c.1022T>A c.85T>A c.625T>A c.503T>A (p.Leu168His) c.977T>A (p.Leu326His) c.830T>A (p.Leu277His) | |
| X | g.129562418T>C | CA414552521 | OCRL | c.*1266T>C (n.*1266T>C) c.1091T>C c.974T>C (p.Leu325Pro) c.1022T>C c.85T>C c.625T>C c.503T>C (p.Leu168Pro) c.977T>C (p.Leu326Pro) c.830T>C (p.Leu277Pro) | |
| X | g.129562418T>G | CA414552523 | OCRL | c.*1266T>G (n.*1266T>G) c.1091T>G c.974T>G (p.Leu325Arg) c.1022T>G c.85T>G c.625T>G c.503T>G (p.Leu168Arg) c.977T>G (p.Leu326Arg) c.830T>G (p.Leu277Arg) | |
| X | g.129562419T>A | CA518471124 | OCRL | c.*1267T>A (n.*1267T>A) c.1092T>A c.975T>A (p.Leu325=) c.1023T>A c.86T>A c.626T>A c.504T>A (p.Leu168=) c.978T>A (p.Leu326=) c.831T>A (p.Leu277=) | |
| X | g.129562419T>C | CA518471121 | OCRL | c.*1267T>C (n.*1267T>C) c.1092T>C c.975T>C (p.Leu325=) c.1023T>C c.86T>C c.626T>C c.504T>C (p.Leu168=) c.978T>C (p.Leu326=) c.831T>C (p.Leu277=) | |
| X | g.129562419T>G | CA518471120 | OCRL | c.*1267T>G (n.*1267T>G) c.1092T>G c.975T>G (p.Leu325=) c.1023T>G c.86T>G c.626T>G c.504T>G (p.Leu168=) c.978T>G (p.Leu326=) c.831T>G (p.Leu277=) | |
| X | g.129562420A>C | CA414552524 | OCRL | c.*1268A>C (n.*1268A>C) c.1093A>C c.976A>C (p.Ile326Leu) c.1024A>C c.87A>C c.627A>C c.505A>C (p.Ile169Leu) c.979A>C (p.Ile327Leu) c.832A>C (p.Ile278Leu) | |
| X | g.129562420A>G | CA414552526 | OCRL | c.*1268A>G (n.*1268A>G) c.1093A>G c.976A>G (p.Ile326Val) c.1024A>G c.87A>G c.627A>G c.505A>G (p.Ile169Val) c.979A>G (p.Ile327Val) c.832A>G (p.Ile278Val) | |
| X | g.129562420A>T | CA414552525 | OCRL | c.*1268A>T (n.*1268A>T) c.1093A>T c.976A>T (p.Ile326Leu) c.1024A>T c.87A>T c.627A>T c.505A>T (p.Ile169Leu) c.979A>T (p.Ile327Leu) c.832A>T (p.Ile278Leu) | |
| X | g.129562420dup | CA2695235837 | OCRL | c.*1268dup (n.*1268dup) c.1093dup c.976dup (p.Ile326AsnfsTer13) c.1024dup c.87dup c.627dup c.505dup (p.Ile169AsnfsTer13) c.979dup (p.Ile327AsnfsTer13) c.832dup (p.Ile278AsnfsTer13) | |
| X | g.129562421T>A | CA414552527 | OCRL | c.*1269T>A (n.*1269T>A) c.1094T>A c.977T>A (p.Ile326Lys) c.1025T>A c.88T>A c.628T>A c.506T>A (p.Ile169Lys) c.980T>A (p.Ile327Lys) c.833T>A (p.Ile278Lys) | |
| X | g.129562421T>C | CA414552529 | OCRL | c.*1269T>C (n.*1269T>C) c.1094T>C c.977T>C (p.Ile326Thr) c.1025T>C c.88T>C c.628T>C c.506T>C (p.Ile169Thr) c.980T>C (p.Ile327Thr) c.833T>C (p.Ile278Thr) | |
| X | g.129562421T>G | CA414552528 | OCRL | c.*1269T>G (n.*1269T>G) c.1094T>G c.977T>G (p.Ile326Arg) c.1025T>G c.88T>G c.628T>G c.506T>G (p.Ile169Arg) c.980T>G (p.Ile327Arg) c.833T>G (p.Ile278Arg) | |
| X | g.129562422A>C | CA518471133 | OCRL | c.*1270A>C (n.*1270A>C) c.1095A>C c.978A>C (p.Ile326=) c.1026A>C c.89A>C c.629A>C c.507A>C (p.Ile169=) c.981A>C (p.Ile327=) c.834A>C (p.Ile278=) | |
| X | g.129562422A>G | CA414552530 | OCRL | c.*1270A>G (n.*1270A>G) c.1095A>G c.978A>G (p.Ile326Met) c.1026A>G c.89A>G c.629A>G c.507A>G (p.Ile169Met) c.981A>G (p.Ile327Met) c.834A>G (p.Ile278Met) | |
| X | g.129562422A>T | CA518471132 | OCRL | c.*1270A>T (n.*1270A>T) c.1095A>T c.978A>T (p.Ile326=) c.1026A>T c.89A>T c.629A>T c.507A>T (p.Ile169=) c.981A>T (p.Ile327=) c.834A>T (p.Ile278=) | |
| X | g.129562423T>A | CA414552533 | OCRL | c.*1271T>A (n.*1271T>A) c.1096T>A c.979T>A (p.Phe327Ile) c.1027T>A c.90T>A c.630T>A c.508T>A (p.Phe170Ile) c.982T>A (p.Phe328Ile) c.835T>A (p.Phe279Ile) | |
| X | g.129562423T>C | CA414552531 | OCRL | c.*1271T>C (n.*1271T>C) c.1096T>C c.979T>C (p.Phe327Leu) c.1027T>C c.90T>C c.630T>C c.508T>C (p.Phe170Leu) c.982T>C (p.Phe328Leu) c.835T>C (p.Phe279Leu) | |
| X | g.129562423T>G | CA414552532 | OCRL | c.*1271T>G (n.*1271T>G) c.1096T>G c.979T>G (p.Phe327Val) c.1027T>G c.90T>G c.630T>G c.508T>G (p.Phe170Val) c.982T>G (p.Phe328Val) c.835T>G (p.Phe279Val) | |
| X | g.129562424T>A | CA414552534 | OCRL | c.*1272T>A (n.*1272T>A) c.1097T>A c.980T>A (p.Phe327Tyr) c.1028T>A c.91T>A c.631T>A c.509T>A (p.Phe170Tyr) c.983T>A (p.Phe328Tyr) c.836T>A (p.Phe279Tyr) | |
| X | g.129562424T>C | CA414552535 | OCRL | c.*1272T>C (n.*1272T>C) c.1097T>C c.980T>C (p.Phe327Ser) c.1028T>C c.91T>C c.631T>C c.509T>C (p.Phe170Ser) c.983T>C (p.Phe328Ser) c.836T>C (p.Phe279Ser) | |
| X | g.129562424T>G | CA414552536 | OCRL | c.*1272T>G (n.*1272T>G) c.1097T>G c.980T>G (p.Phe327Cys) c.1028T>G c.91T>G c.631T>G c.509T>G (p.Phe170Cys) c.983T>G (p.Phe328Cys) c.836T>G (p.Phe279Cys) | |
| X | g.129562425T>A | CA414552537 | OCRL | c.*1273T>A (n.*1273T>A) c.1098T>A c.981T>A (p.Phe327Leu) c.1029T>A c.92T>A c.632T>A c.510T>A (p.Phe170Leu) c.984T>A (p.Phe328Leu) c.837T>A (p.Phe279Leu) | |
| X | g.129562425T>C | CA518471136 | OCRL | c.*1273T>C (n.*1273T>C) c.1098T>C c.981T>C (p.Phe327=) c.1029T>C c.92T>C c.632T>C c.510T>C (p.Phe170=) c.984T>C (p.Phe328=) c.837T>C (p.Phe279=) | |
| X | g.129562425T>G | CA414552538 | OCRL | c.*1273T>G (n.*1273T>G) c.1098T>G c.981T>G (p.Phe327Leu) c.1029T>G c.92T>G c.632T>G c.510T>G (p.Phe170Leu) c.984T>G (p.Phe328Leu) c.837T>G (p.Phe279Leu) | |
| X | g.129562426G>A | CA414552539 | OCRL | c.*1274G>A (n.*1274G>A) c.1099G>A c.982G>A (p.Ala328Thr) c.1030G>A c.93G>A c.633G>A c.511G>A (p.Ala171Thr) c.985G>A (p.Ala329Thr) c.838G>A (p.Ala280Thr) | ClinVar |
| X | g.129562426G>C | CA414552540 | OCRL | c.*1274G>C (n.*1274G>C) c.1099G>C c.982G>C (p.Ala328Pro) c.1030G>C c.93G>C c.633G>C c.511G>C (p.Ala171Pro) c.985G>C (p.Ala329Pro) c.838G>C (p.Ala280Pro) | |
| X | g.129562426G>T | CA414552541 | OCRL | c.*1274G>T (n.*1274G>T) c.1099G>T c.982G>T (p.Ala328Ser) c.1030G>T c.93G>T c.633G>T c.511G>T (p.Ala171Ser) c.985G>T (p.Ala329Ser) c.838G>T (p.Ala280Ser) | |
| X | g.129562427C>A | CA414552542 | OCRL | c.*1275C>A (n.*1275C>A) c.1100C>A c.983C>A (p.Ala328Asp) c.1031C>A c.94C>A c.634C>A c.512C>A (p.Ala171Asp) c.986C>A (p.Ala329Asp) c.839C>A (p.Ala280Asp) | |
| X | g.129562427C= | CA2458099456 | OCRL | c.*1275C= (n.*1275C=) c.1100C= c.983C= (p.Ala328=) c.1031C= c.94C= c.634C= c.512C= (p.Ala171=) c.986C= (p.Ala329=) c.839C= (p.Ala280=) | |
| X | g.129562427C>G | CA414552543 | OCRL | c.*1275C>G (n.*1275C>G) c.1100C>G c.983C>G (p.Ala328Gly) c.1031C>G c.94C>G c.634C>G c.512C>G (p.Ala171Gly) c.986C>G (p.Ala329Gly) c.839C>G (p.Ala280Gly) | |
| X | g.129562427C>T | CA10512122 | OCRL | c.*1275C>T (n.*1275C>T) c.1100C>T c.983C>T (p.Ala328Val) c.1031C>T c.94C>T c.634C>T c.512C>T (p.Ala171Val) c.986C>T (p.Ala329Val) c.839C>T (p.Ala280Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.129562428C>A | CA518471144 | OCRL | c.*1276C>A (n.*1276C>A) c.1101C>A c.984C>A (p.Ala328=) c.1032C>A c.95C>A c.635C>A c.513C>A (p.Ala171=) c.987C>A (p.Ala329=) c.840C>A (p.Ala280=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.129562428C= | CA2458099457 | OCRL | c.*1276C= (n.*1276C=) c.1101C= c.984C= (p.Ala328=) c.1032C= c.95C= c.635C= c.513C= (p.Ala171=) c.987C= (p.Ala329=) c.840C= (p.Ala280=) | |
| X | g.129562428C>G | CA518471145 | OCRL | c.*1276C>G (n.*1276C>G) c.1101C>G c.984C>G (p.Ala328=) c.1032C>G c.95C>G c.635C>G c.513C>G (p.Ala171=) c.987C>G (p.Ala329=) c.840C>G (p.Ala280=) | ClinVar |
| X | g.129562428C>T | CA518471147 | OCRL | c.*1276C>T (n.*1276C>T) c.1101C>T c.984C>T (p.Ala328=) c.1032C>T c.95C>T c.635C>T c.513C>T (p.Ala171=) c.987C>T (p.Ala329=) c.840C>T (p.Ala280=) | |
| X | g.129562429A>C | CA518471149 | OCRL | c.*1277A>C (n.*1277A>C) c.1102A>C c.985A>C (p.Arg329=) c.1033A>C c.96A>C c.636A>C c.514A>C (p.Arg172=) c.988A>C (p.Arg330=) c.841A>C (p.Arg281=) | |
| X | g.129562429A>G | CA414552544 | OCRL | c.*1277A>G (n.*1277A>G) c.1102A>G c.985A>G (p.Arg329Gly) c.1033A>G c.96A>G c.636A>G c.514A>G (p.Arg172Gly) c.988A>G (p.Arg330Gly) c.841A>G (p.Arg281Gly) | |
| X | g.129562429A>T | CA414552545 | OCRL | c.*1277A>T (n.*1277A>T) c.1102A>T c.985A>T (p.Arg329Ter) c.1033A>T c.96A>T c.636A>T c.514A>T (p.Arg172Ter) c.988A>T (p.Arg330Ter) c.841A>T (p.Arg281Ter) | ClinVar |
| X | g.129562430G>A | CA414552546 | OCRL | c.*1278G>A (n.*1278G>A) c.1103G>A c.986G>A (p.Arg329Lys) c.1034G>A c.97G>A c.637G>A c.515G>A (p.Arg172Lys) c.989G>A (p.Arg330Lys) c.842G>A (p.Arg281Lys) | ClinVar |
| X | g.129562430G>C | CA414552547 | OCRL | c.*1278G>C (n.*1278G>C) c.1103G>C c.986G>C (p.Arg329Thr) c.1034G>C c.97G>C c.637G>C c.515G>C (p.Arg172Thr) c.989G>C (p.Arg330Thr) c.842G>C (p.Arg281Thr) | |
| X | g.129562430G>T | CA414552548 | OCRL | c.*1278G>T (n.*1278G>T) c.1103G>T c.986G>T (p.Arg329Ile) c.1034G>T c.97G>T c.637G>T c.515G>T (p.Arg172Ile) c.989G>T (p.Arg330Ile) c.842G>T (p.Arg281Ile) | |
| X | g.129562431A>C | CA414552549 | OCRL | c.*1279A>C (n.*1279A>C) c.1104A>C c.987A>C (p.Arg329Ser) c.1035A>C c.98A>C c.638A>C c.516A>C (p.Arg172Ser) c.990A>C (p.Arg330Ser) c.843A>C (p.Arg281Ser) | |
| X | g.129562431A>G | CA518471152 | OCRL | c.*1279A>G (n.*1279A>G) c.1104A>G c.987A>G (p.Arg329=) c.1035A>G c.98A>G c.638A>G c.516A>G (p.Arg172=) c.990A>G (p.Arg330=) c.843A>G (p.Arg281=) | |
| X | g.129562431A>T | CA414552550 | OCRL | c.*1279A>T (n.*1279A>T) c.1104A>T c.987A>T (p.Arg329Ser) c.1035A>T c.98A>T c.638A>T c.516A>T (p.Arg172Ser) c.990A>T (p.Arg330Ser) c.843A>T (p.Arg281Ser) | |
| X | g.129562433del | CA2545584822 | OCRL | c.*1281del (n.*1281del) c.1106del c.989del (p.Lys330ArgfsTer29) c.1037del c.100del c.640del c.518del (p.Lys173ArgfsTer29) c.992del (p.Lys331ArgfsTer29) c.845del (p.Lys282ArgfsTer29) | |
| X | g.129562432A>C | CA414552551 | OCRL | c.*1280A>C (n.*1280A>C) c.1105A>C c.988A>C (p.Lys330Gln) c.1036A>C c.99A>C c.639A>C c.517A>C (p.Lys173Gln) c.991A>C (p.Lys331Gln) c.844A>C (p.Lys282Gln) | |
| X | g.129562432A>G | CA414552552 | OCRL | c.*1280A>G (n.*1280A>G) c.1105A>G c.988A>G (p.Lys330Glu) c.1036A>G c.99A>G c.639A>G c.517A>G (p.Lys173Glu) c.991A>G (p.Lys331Glu) c.844A>G (p.Lys282Glu) | |
| X | g.129562432A>T | CA414552553 | OCRL | c.*1280A>T (n.*1280A>T) c.1105A>T c.988A>T (p.Lys330Ter) c.1036A>T c.99A>T c.639A>T c.517A>T (p.Lys173Ter) c.991A>T (p.Lys331Ter) c.844A>T (p.Lys282Ter) | |
| X | g.129562433A= | CA2458099458 | OCRL | c.*1281A= (n.*1281A=) c.1106A= c.989A= (p.Lys330=) c.1037A= c.100A= c.640A= c.518A= (p.Lys173=) c.992A= (p.Lys331=) c.845A= (p.Lys282=) | |
| X | g.129562433A>C | CA414552554 | OCRL | c.*1281A>C (n.*1281A>C) c.1106A>C c.989A>C (p.Lys330Thr) c.1037A>C c.100A>C c.640A>C c.518A>C (p.Lys173Thr) c.992A>C (p.Lys331Thr) c.845A>C (p.Lys282Thr) | |
| X | g.129562433A>G | CA414552555 | OCRL | c.*1281A>G (n.*1281A>G) c.1106A>G c.989A>G (p.Lys330Arg) c.1037A>G c.100A>G c.640A>G c.518A>G (p.Lys173Arg) c.992A>G (p.Lys331Arg) c.845A>G (p.Lys282Arg) | dbSNP |
| X | g.129562433A>T | CA414552556 | OCRL | c.*1281A>T (n.*1281A>T) c.1106A>T c.989A>T (p.Lys330Met) c.1037A>T c.100A>T c.640A>T c.518A>T (p.Lys173Met) c.992A>T (p.Lys331Met) c.845A>T (p.Lys282Met) | |
| X | g.129562434G>A | CA518471157 | OCRL | c.*1282G>A (n.*1282G>A) c.1107G>A c.990G>A (p.Lys330=) c.1038G>A c.101G>A c.641G>A c.519G>A (p.Lys173=) c.993G>A (p.Lys331=) c.846G>A (p.Lys282=) | |
| X | g.129562434G>C | CA414552557 | OCRL | c.*1282G>C (n.*1282G>C) c.1107G>C c.990G>C (p.Lys330Asn) c.1038G>C c.101G>C c.641G>C c.519G>C (p.Lys173Asn) c.993G>C (p.Lys331Asn) c.846G>C (p.Lys282Asn) | |
| X | g.129562434G>T | CA414552558 | OCRL | c.*1282G>T (n.*1282G>T) c.1107G>T c.990G>T (p.Lys330Asn) c.1038G>T c.101G>T c.641G>T c.519G>T (p.Lys173Asn) c.993G>T (p.Lys331Asn) c.846G>T (p.Lys282Asn) | |
| X | g.129562435G>A | CA10512123 | OCRL | c.*1283G>A (n.*1283G>A) c.1108G>A c.991G>A (p.Asp331Asn) c.1039G>A c.102G>A c.642G>A c.520G>A (p.Asp174Asn) c.994G>A (p.Asp332Asn) c.847G>A (p.Asp283Asn) | dbSNP ExAC |
| X | g.129562435G>C | CA414552559 | OCRL | c.*1283G>C (n.*1283G>C) c.1108G>C c.991G>C (p.Asp331His) c.1039G>C c.102G>C c.642G>C c.520G>C (p.Asp174His) c.994G>C (p.Asp332His) c.847G>C (p.Asp283His) | |
| X | g.129562435G= | CA2458099459 | OCRL | c.*1283G= (n.*1283G=) c.1108G= c.991G= (p.Asp331=) c.1039G= c.102G= c.642G= c.520G= (p.Asp174=) c.994G= (p.Asp332=) c.847G= (p.Asp283=) | |
| X | g.129562435G>T | CA414552560 | OCRL | c.*1283G>T (n.*1283G>T) c.1108G>T c.991G>T (p.Asp331Tyr) c.1039G>T c.102G>T c.642G>T c.520G>T (p.Asp174Tyr) c.994G>T (p.Asp332Tyr) c.847G>T (p.Asp283Tyr) | |
| X | g.129562436A>C | CA414552561 | OCRL | c.*1284A>C (n.*1284A>C) c.1109A>C c.992A>C (p.Asp331Ala) c.1040A>C c.103A>C c.643A>C c.521A>C (p.Asp174Ala) c.995A>C (p.Asp332Ala) c.848A>C (p.Asp283Ala) | |
| X | g.129562436A>G | CA414552562 | OCRL | c.*1284A>G (n.*1284A>G) c.1109A>G c.992A>G (p.Asp331Gly) c.1040A>G c.103A>G c.643A>G c.521A>G (p.Asp174Gly) c.995A>G (p.Asp332Gly) c.848A>G (p.Asp283Gly) | |
| X | g.129562436A>T | CA414552563 | OCRL | c.*1284A>T (n.*1284A>T) c.1109A>T c.992A>T (p.Asp331Val) c.1040A>T c.103A>T c.643A>T c.521A>T (p.Asp174Val) c.995A>T (p.Asp332Val) c.848A>T (p.Asp283Val) | |
| X | g.129562437T>A | CA414552564 | OCRL | c.*1285T>A (n.*1285T>A) c.1110T>A c.993T>A (p.Asp331Glu) c.1041T>A c.104T>A c.644T>A c.522T>A (p.Asp174Glu) c.996T>A (p.Asp332Glu) c.849T>A (p.Asp283Glu) | |
| X | g.129562437T>C | CA518471161 | OCRL | c.*1285T>C (n.*1285T>C) c.1110T>C c.993T>C (p.Asp331=) c.1041T>C c.104T>C c.644T>C c.522T>C (p.Asp174=) c.996T>C (p.Asp332=) c.849T>C (p.Asp283=) | |
| X | g.129562437T>G | CA414552565 | OCRL | c.*1285T>G (n.*1285T>G) c.1110T>G c.993T>G (p.Asp331Glu) c.1041T>G c.104T>G c.644T>G c.522T>G (p.Asp174Glu) c.996T>G (p.Asp332Glu) c.849T>G (p.Asp283Glu) | gnomAD v4 |
| X | g.129562438C>A | CA414552566 | OCRL | c.*1286C>A (n.*1286C>A) c.1111C>A c.994C>A (p.Gln332Lys) c.1042C>A c.105C>A c.645C>A c.523C>A (p.Gln175Lys) c.997C>A (p.Gln333Lys) c.850C>A (p.Gln284Lys) | |
| X | g.129562438C>G | CA414552567 | OCRL | c.*1286C>G (n.*1286C>G) c.1111C>G c.994C>G (p.Gln332Glu) c.1042C>G c.105C>G c.645C>G c.523C>G (p.Gln175Glu) c.997C>G (p.Gln333Glu) c.850C>G (p.Gln284Glu) | |
| X | g.129562438C>T | CA414552568 | OCRL | c.*1286C>T (n.*1286C>T) c.1111C>T c.994C>T (p.Gln332Ter) c.1042C>T c.105C>T c.645C>T c.523C>T (p.Gln175Ter) c.997C>T (p.Gln333Ter) c.850C>T (p.Gln284Ter) | |
| X | g.129562439A>C | CA414552571 | OCRL | c.*1287A>C (n.*1287A>C) c.1112A>C c.995A>C (p.Gln332Pro) c.1043A>C c.106A>C c.646A>C c.524A>C (p.Gln175Pro) c.998A>C (p.Gln333Pro) c.851A>C (p.Gln284Pro) | |
| X | g.129562439A>G | CA414552570 | OCRL | c.*1287A>G (n.*1287A>G) c.1112A>G c.995A>G (p.Gln332Arg) c.1043A>G c.106A>G c.646A>G c.524A>G (p.Gln175Arg) c.998A>G (p.Gln333Arg) c.851A>G (p.Gln284Arg) | |
| X | g.129562439A>T | CA414552569 | OCRL | c.*1287A>T (n.*1287A>T) c.1112A>T c.995A>T (p.Gln332Leu) c.1043A>T c.106A>T c.646A>T c.524A>T (p.Gln175Leu) c.998A>T (p.Gln333Leu) c.851A>T (p.Gln284Leu) | |
| X | g.129562440G>A | CA518471164 | OCRL | c.*1288G>A (n.*1288G>A) c.1113G>A c.996G>A (p.Gln332=) c.1044G>A c.107G>A c.647G>A c.525G>A (p.Gln175=) c.999G>A (p.Gln333=) c.852G>A (p.Gln284=) | |
| X | g.129562440G>C | CA414552572 | OCRL | c.*1288G>C (n.*1288G>C) c.1113G>C c.996G>C (p.Gln332His) c.1044G>C c.107G>C c.647G>C c.525G>C (p.Gln175His) c.999G>C (p.Gln333His) c.852G>C (p.Gln284His) | |
| X | g.129562440G>T | CA414552573 | OCRL | c.*1288G>T (n.*1288G>T) c.1113G>T c.996G>T (p.Gln332His) c.1044G>T c.107G>T c.647G>T c.525G>T (p.Gln175His) c.999G>T (p.Gln333His) c.852G>T (p.Gln284His) | |
| X | g.129562441T>A | CA414552574 | OCRL | c.*1289T>A (n.*1289T>A) c.1114T>A c.997T>A (p.Cys333Ser) c.1045T>A c.108T>A c.648T>A c.526T>A (p.Cys176Ser) c.1000T>A (p.Cys334Ser) c.853T>A (p.Cys285Ser) | |
| X | g.129562441T>C | CA414552575 | OCRL | c.*1289T>C (n.*1289T>C) c.1114T>C c.997T>C (p.Cys333Arg) c.1045T>C c.108T>C c.648T>C c.526T>C (p.Cys176Arg) c.1000T>C (p.Cys334Arg) c.853T>C (p.Cys285Arg) | |
| X | g.129562441T>G | CA414552576 | OCRL | c.*1289T>G (n.*1289T>G) c.1114T>G c.997T>G (p.Cys333Gly) c.1045T>G c.108T>G c.648T>G c.526T>G (p.Cys176Gly) c.1000T>G (p.Cys334Gly) c.853T>G (p.Cys285Gly) | |
| X | g.129562442G>A | CA414552577 | OCRL | c.*1290G>A (n.*1290G>A) c.1115G>A c.998G>A (p.Cys333Tyr) c.1046G>A c.109G>A c.649G>A c.527G>A (p.Cys176Tyr) c.1001G>A (p.Cys334Tyr) c.854G>A (p.Cys285Tyr) | |
| X | g.129562442G>C | CA414552578 | OCRL | c.*1290G>C (n.*1290G>C) c.1115G>C c.998G>C (p.Cys333Ser) c.1046G>C c.109G>C c.649G>C c.527G>C (p.Cys176Ser) c.1001G>C (p.Cys334Ser) c.854G>C (p.Cys285Ser) | |
| X | g.129562442G>T | CA414552579 | OCRL | c.*1290G>T (n.*1290G>T) c.1115G>T c.998G>T (p.Cys333Phe) c.1046G>T c.109G>T c.649G>T c.527G>T (p.Cys176Phe) c.1001G>T (p.Cys334Phe) c.854G>T (p.Cys285Phe) | ClinVar dbSNP |
| X | g.129562443T>A | CA414552580 | OCRL | c.*1291T>A (n.*1291T>A) c.1116T>A c.999T>A (p.Cys333Ter) c.1047T>A c.110T>A c.650T>A c.528T>A (p.Cys176Ter) c.1002T>A (p.Cys334Ter) c.855T>A (p.Cys285Ter) | |
| X | g.129562443T>C | CA518471171 | OCRL | c.*1291T>C (n.*1291T>C) c.1116T>C c.999T>C (p.Cys333=) c.1047T>C c.110T>C c.650T>C c.528T>C (p.Cys176=) c.1002T>C (p.Cys334=) c.855T>C (p.Cys285=) | |
| X | g.129562443T>G | CA414552581 | OCRL | c.*1291T>G (n.*1291T>G) c.1116T>G c.999T>G (p.Cys333Trp) c.1047T>G c.110T>G c.650T>G c.528T>G (p.Cys176Trp) c.1002T>G (p.Cys334Trp) c.855T>G (p.Cys285Trp) | |
| X | g.129562444C>A | CA518471174 | OCRL | c.*1292C>A (n.*1292C>A) c.1117C>A c.1000C>A (p.Arg334=) c.1048C>A c.111C>A c.651C>A c.529C>A (p.Arg177=) c.1003C>A (p.Arg335=) c.856C>A (p.Arg286=) | gnomAD v4 |
| X | g.129562444C= | CA2458099460 | OCRL | c.*1292C= (n.*1292C=) c.1117C= c.1000C= (p.Arg334=) c.1048C= c.111C= c.651C= c.529C= (p.Arg177=) c.1003C= (p.Arg335=) c.856C= (p.Arg286=) | |
| X | g.129562444C>G | CA414552582 | OCRL | c.*1292C>G (n.*1292C>G) c.1117C>G c.1000C>G (p.Arg334Gly) c.1048C>G c.111C>G c.651C>G c.529C>G (p.Arg177Gly) c.1003C>G (p.Arg335Gly) c.856C>G (p.Arg286Gly) | |
| X | g.129562444C>T | CA414552583 | OCRL | c.*1292C>T (n.*1292C>T) c.1117C>T c.1000C>T (p.Arg334Ter) c.1048C>T c.111C>T c.651C>T c.529C>T (p.Arg177Ter) c.1003C>T (p.Arg335Ter) c.856C>T (p.Arg286Ter) | ClinVar dbSNP COSMIC |
| X | g.129562445G>A | CA10512124 | OCRL | c.*1293G>A (n.*1293G>A) c.1118G>A c.1001G>A (p.Arg334Gln) c.1049G>A c.112G>A c.652G>A c.530G>A (p.Arg177Gln) c.1004G>A (p.Arg335Gln) c.857G>A (p.Arg286Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.129562445G>C | CA414552585 | OCRL | c.*1293G>C (n.*1293G>C) c.1118G>C c.1001G>C (p.Arg334Pro) c.1049G>C c.112G>C c.652G>C c.530G>C (p.Arg177Pro) c.1004G>C (p.Arg335Pro) c.857G>C (p.Arg286Pro) | |
| X | g.129562445G= | CA2458099461 | OCRL | c.*1293G= (n.*1293G=) c.1118G= c.1001G= (p.Arg334=) c.1049G= c.112G= c.652G= c.530G= (p.Arg177=) c.1004G= (p.Arg335=) c.857G= (p.Arg286=) | |
| X | g.129562445G>T | CA414552584 | OCRL | c.*1293G>T (n.*1293G>T) c.1118G>T c.1001G>T (p.Arg334Leu) c.1049G>T c.112G>T c.652G>T c.530G>T (p.Arg177Leu) c.1004G>T (p.Arg335Leu) c.857G>T (p.Arg286Leu) | |
| X | g.129562446A>C | CA518471182 | OCRL | c.*1294A>C (n.*1294A>C) c.1119A>C c.1002A>C (p.Arg334=) c.1050A>C c.113A>C c.653A>C c.531A>C (p.Arg177=) c.1005A>C (p.Arg335=) c.858A>C (p.Arg286=) | |
| X | g.129562446A>G | CA518471181 | OCRL | c.*1294A>G (n.*1294A>G) c.1119A>G c.1002A>G (p.Arg334=) c.1050A>G c.113A>G c.653A>G c.531A>G (p.Arg177=) c.1005A>G (p.Arg335=) c.858A>G (p.Arg286=) | |
| X | g.129562446A>T | CA518471180 | OCRL | c.*1294A>T (n.*1294A>T) c.1119A>T c.1002A>T (p.Arg334=) c.1050A>T c.113A>T c.653A>T c.531A>T (p.Arg177=) c.1005A>T (p.Arg335=) c.858A>T (p.Arg286=) | gnomAD v4 |
| X | g.129562446_129562447insAA | CA2695235838 | OCRL | c.*1294_*1295insAA (n.*1294_*1295insAA) c.1119_1120insAA c.1002_1003insAA (p.Tyr335AsnfsTer25) c.1050_1051insAA c.113_114insAA c.653_654insAA c.531_532insAA (p.Tyr178AsnfsTer25) c.1005_1006insAA (p.Tyr336AsnfsTer25) c.858_859insAA (p.Tyr287AsnfsTer25) | |
| X | g.129562447T>A | CA414552586 | OCRL | c.*1295T>A (n.*1295T>A) c.1120T>A c.1003T>A (p.Tyr335Asn) c.1051T>A c.114T>A c.654T>A c.532T>A (p.Tyr178Asn) c.1006T>A (p.Tyr336Asn) c.859T>A (p.Tyr287Asn) | |
| X | g.129562447T>C | CA414552587 | OCRL | c.*1295T>C (n.*1295T>C) c.1120T>C c.1003T>C (p.Tyr335His) c.1051T>C c.114T>C c.654T>C c.532T>C (p.Tyr178His) c.1006T>C (p.Tyr336His) c.859T>C (p.Tyr287His) | |
| X | g.129562447T>G | CA414552588 | OCRL | c.*1295T>G (n.*1295T>G) c.1120T>G c.1003T>G (p.Tyr335Asp) c.1051T>G c.114T>G c.654T>G c.532T>G (p.Tyr178Asp) c.1006T>G (p.Tyr336Asp) c.859T>G (p.Tyr287Asp) | |
| X | g.129562448A>C | CA414552589 | OCRL | c.*1296A>C (n.*1296A>C) c.1121A>C c.1004A>C (p.Tyr335Ser) c.1052A>C c.115A>C c.655A>C c.533A>C (p.Tyr178Ser) c.1007A>C (p.Tyr336Ser) c.860A>C (p.Tyr287Ser) | |
| X | g.129562448A>G | CA414552590 | OCRL | c.*1296A>G (n.*1296A>G) c.1121A>G c.1004A>G (p.Tyr335Cys) c.1052A>G c.115A>G c.655A>G c.533A>G (p.Tyr178Cys) c.1007A>G (p.Tyr336Cys) c.860A>G (p.Tyr287Cys) | |
| X | g.129562448A>T | CA414552591 | OCRL | c.*1296A>T (n.*1296A>T) c.1121A>T c.1004A>T (p.Tyr335Phe) c.1052A>T c.115A>T c.655A>T c.533A>T (p.Tyr178Phe) c.1007A>T (p.Tyr336Phe) c.860A>T (p.Tyr287Phe) | |
| X | g.129562449C>A | CA414552592 | OCRL | c.*1297C>A (n.*1297C>A) c.1122C>A c.1005C>A (p.Tyr335Ter) c.1053C>A c.116C>A c.656C>A c.534C>A (p.Tyr178Ter) c.1008C>A (p.Tyr336Ter) c.861C>A (p.Tyr287Ter) | |
| X | g.129562449C>G | CA414552593 | OCRL | c.*1297C>G (n.*1297C>G) c.1122C>G c.1005C>G (p.Tyr335Ter) c.1053C>G c.116C>G c.656C>G c.534C>G (p.Tyr178Ter) c.1008C>G (p.Tyr336Ter) c.861C>G (p.Tyr287Ter) | |
| X | g.129562449C>T | CA518471190 | OCRL | c.*1297C>T (n.*1297C>T) c.1122C>T c.1005C>T (p.Tyr335=) c.1053C>T c.116C>T c.656C>T c.534C>T (p.Tyr178=) c.1008C>T (p.Tyr336=) c.861C>T (p.Tyr287=) | |
| X | g.129562450A>C | CA414552594 | OCRL | c.*1298A>C (n.*1298A>C) c.1123A>C c.1006A>C (p.Ile336Leu) c.1054A>C c.117A>C c.657A>C c.535A>C (p.Ile179Leu) c.1009A>C (p.Ile337Leu) c.862A>C (p.Ile288Leu) | |
| X | g.129562450A>G | CA414552596 | OCRL | c.*1298A>G (n.*1298A>G) c.1123A>G c.1006A>G (p.Ile336Val) c.1054A>G c.117A>G c.657A>G c.535A>G (p.Ile179Val) c.1009A>G (p.Ile337Val) c.862A>G (p.Ile288Val) | |
| X | g.129562450A>T | CA414552595 | OCRL | c.*1298A>T (n.*1298A>T) c.1123A>T c.1006A>T (p.Ile336Phe) c.1054A>T c.117A>T c.657A>T c.535A>T (p.Ile179Phe) c.1009A>T (p.Ile337Phe) c.862A>T (p.Ile288Phe) | gnomAD v4 |
| X | g.129562451T>A | CA414552597 | OCRL | c.*1299T>A (n.*1299T>A) c.1124T>A c.1007T>A (p.Ile336Asn) c.1055T>A c.118T>A c.658T>A c.536T>A (p.Ile179Asn) c.1010T>A (p.Ile337Asn) c.863T>A (p.Ile288Asn) | |
| X | g.129562451T>C | CA414552598 | OCRL | c.*1299T>C (n.*1299T>C) c.1124T>C c.1007T>C (p.Ile336Thr) c.1055T>C c.118T>C c.658T>C c.536T>C (p.Ile179Thr) c.1010T>C (p.Ile337Thr) c.863T>C (p.Ile288Thr) | ClinVar |
| X | g.129562451T>G | CA414552599 | OCRL | c.*1299T>G (n.*1299T>G) c.1124T>G c.1007T>G (p.Ile336Ser) c.1055T>G c.118T>G c.658T>G c.536T>G (p.Ile179Ser) c.1010T>G (p.Ile337Ser) c.863T>G (p.Ile288Ser) | |
| X | g.129562452T>A | CA518471194 | OCRL | c.*1300T>A (n.*1300T>A) c.1125T>A c.1008T>A (p.Ile336=) c.1056T>A c.119T>A c.659T>A c.537T>A (p.Ile179=) c.1011T>A (p.Ile337=) c.864T>A (p.Ile288=) | |
| X | g.129562452T>C | CA518471197 | OCRL | c.*1300T>C (n.*1300T>C) c.1125T>C c.1008T>C (p.Ile336=) c.1056T>C c.119T>C c.659T>C c.537T>C (p.Ile179=) c.1011T>C (p.Ile337=) c.864T>C (p.Ile288=) | |
| X | g.129562452T>G | CA414552600 | OCRL | c.*1300T>G (n.*1300T>G) c.1125T>G c.1008T>G (p.Ile336Met) c.1056T>G c.119T>G c.659T>G c.537T>G (p.Ile179Met) c.1011T>G (p.Ile337Met) c.864T>G (p.Ile288Met) | |
| X | g.129562453C>A | CA10512125 | OCRL | c.*1301C>A (n.*1301C>A) c.1126C>A c.1009C>A (p.Arg337Ser) c.1057C>A c.120C>A c.660C>A c.538C>A (p.Arg180Ser) c.1012C>A (p.Arg338Ser) c.865C>A (p.Arg289Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.129562453C= | CA2458099462 | OCRL | c.*1301C= (n.*1301C=) c.1126C= c.1009C= (p.Arg337=) c.1057C= c.120C= c.660C= c.538C= (p.Arg180=) c.1012C= (p.Arg338=) c.865C= (p.Arg289=) | |
| X | g.129562453C>G | CA414552601 | OCRL | c.*1301C>G (n.*1301C>G) c.1126C>G c.1009C>G (p.Arg337Gly) c.1057C>G c.120C>G c.660C>G c.538C>G (p.Arg180Gly) c.1012C>G (p.Arg338Gly) c.865C>G (p.Arg289Gly) | |
| X | g.129562453C>T | CA266138 | OCRL | c.*1301C>T (n.*1301C>T) c.1126C>T c.1009C>T (p.Arg337Cys) c.1057C>T c.120C>T c.660C>T c.538C>T (p.Arg180Cys) c.1012C>T (p.Arg338Cys) c.865C>T (p.Arg289Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.129562454G>A | CA10512126 | OCRL | c.*1302G>A (n.*1302G>A) c.1127G>A c.1010G>A (p.Arg337His) c.1058G>A c.121G>A c.661G>A c.539G>A (p.Arg180His) c.1013G>A (p.Arg338His) c.866G>A (p.Arg289His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.129562454G>C | CA414552602 | OCRL | c.*1302G>C (n.*1302G>C) c.1127G>C c.1010G>C (p.Arg337Pro) c.1058G>C c.121G>C c.661G>C c.539G>C (p.Arg180Pro) c.1013G>C (p.Arg338Pro) c.866G>C (p.Arg289Pro) | |
| X | g.129562454G= | CA2458099463 | OCRL | c.*1302G= (n.*1302G=) c.1127G= c.1010G= (p.Arg337=) c.1058G= c.121G= c.661G= c.539G= (p.Arg180=) c.1013G= (p.Arg338=) c.866G= (p.Arg289=) | |
| X | g.129562454G>T | CA414552603 | OCRL | c.*1302G>T (n.*1302G>T) c.1127G>T c.1010G>T (p.Arg337Leu) c.1058G>T c.121G>T c.661G>T c.539G>T (p.Arg180Leu) c.1013G>T (p.Arg338Leu) c.866G>T (p.Arg289Leu) | |
| X | g.129562455T>A | CA518471205 | OCRL | c.*1303T>A (n.*1303T>A) c.1128T>A c.1011T>A (p.Arg337=) c.1059T>A c.122T>A c.662T>A c.540T>A (p.Arg180=) c.1014T>A (p.Arg338=) c.867T>A (p.Arg289=) | dbSNP gnomAD v2 |
| X | g.129562455T>C | CA518471204 | OCRL | c.*1303T>C (n.*1303T>C) c.1128T>C c.1011T>C (p.Arg337=) c.1059T>C c.122T>C c.662T>C c.540T>C (p.Arg180=) c.1014T>C (p.Arg338=) c.867T>C (p.Arg289=) | |
| X | g.129562455T>G | CA518471203 | OCRL | c.*1303T>G (n.*1303T>G) c.1128T>G c.1011T>G (p.Arg337=) c.1059T>G c.122T>G c.662T>G c.540T>G (p.Arg180=) c.1014T>G (p.Arg338=) c.867T>G (p.Arg289=) | gnomAD v4 |
| X | g.129562455T= | CA2458099464 | OCRL | c.*1303T= (n.*1303T=) c.1128T= c.1011T= (p.Arg337=) c.1059T= c.122T= c.662T= c.540T= (p.Arg180=) c.1014T= (p.Arg338=) c.867T= (p.Arg289=) | |
| X | g.129562456G>A | CA414552604 | OCRL | c.*1304G>A (n.*1304G>A) c.1129G>A c.1012G>A (p.Asp338Asn) c.1060G>A c.123G>A c.663G>A c.541G>A (p.Asp181Asn) c.1015G>A (p.Asp339Asn) c.868G>A (p.Asp290Asn) | |
| X | g.129562456G>C | CA414552605 | OCRL | c.*1304G>C (n.*1304G>C) c.1129G>C c.1012G>C (p.Asp338His) c.1060G>C c.123G>C c.663G>C c.541G>C (p.Asp181His) c.1015G>C (p.Asp339His) c.868G>C (p.Asp290His) | dbSNP |
| X | g.129562456G= | CA2458099465 | OCRL | c.*1304G= (n.*1304G=) c.1129G= c.1012G= (p.Asp338=) c.1060G= c.123G= c.663G= c.541G= (p.Asp181=) c.1015G= (p.Asp339=) c.868G= (p.Asp290=) | |
| X | g.129562456G>T | CA414552606 | OCRL | c.*1304G>T (n.*1304G>T) c.1129G>T c.1012G>T (p.Asp338Tyr) c.1060G>T c.123G>T c.663G>T c.541G>T (p.Asp181Tyr) c.1015G>T (p.Asp339Tyr) c.868G>T (p.Asp290Tyr) | |
| X | g.129562457A>C | CA414552607 | OCRL | c.*1305A>C (n.*1305A>C) c.1130A>C c.1013A>C (p.Asp338Ala) c.1061A>C c.124A>C c.664A>C c.542A>C (p.Asp181Ala) c.1016A>C (p.Asp339Ala) c.869A>C (p.Asp290Ala) | |
| X | g.129562457A>G | CA414552608 | OCRL | c.*1305A>G (n.*1305A>G) c.1130A>G c.1013A>G (p.Asp338Gly) c.1061A>G c.124A>G c.664A>G c.542A>G (p.Asp181Gly) c.1016A>G (p.Asp339Gly) c.869A>G (p.Asp290Gly) | |
| X | g.129562457A>T | CA414552609 | OCRL | c.*1305A>T (n.*1305A>T) c.1130A>T c.1013A>T (p.Asp338Val) c.1061A>T c.124A>T c.664A>T c.542A>T (p.Asp181Val) c.1016A>T (p.Asp339Val) c.869A>T (p.Asp290Val) | |
| X | g.129562458T>A | CA414552610 | OCRL | c.*1306T>A (n.*1306T>A) c.1131T>A c.1014T>A (p.Asp338Glu) c.1062T>A c.125T>A c.665T>A c.543T>A (p.Asp181Glu) c.1017T>A (p.Asp339Glu) c.870T>A (p.Asp290Glu) | |
| X | g.129562458T>C | CA518471212 | OCRL | c.*1306T>C (n.*1306T>C) c.1131T>C c.1014T>C (p.Asp338=) c.1062T>C c.125T>C c.665T>C c.543T>C (p.Asp181=) c.1017T>C (p.Asp339=) c.870T>C (p.Asp290=) | |
| X | g.129562458T>G | CA414552611 | OCRL | c.*1306T>G (n.*1306T>G) c.1131T>G c.1014T>G (p.Asp338Glu) c.1062T>G c.125T>G c.665T>G c.543T>G (p.Asp181Glu) c.1017T>G (p.Asp339Glu) c.870T>G (p.Asp290Glu) | |
| X | g.129562459A>C | CA414552612 | OCRL | c.*1307A>C (n.*1307A>C) c.1132A>C c.1015A>C (p.Ile339Leu) c.1063A>C c.126A>C c.666A>C c.544A>C (p.Ile182Leu) c.1018A>C (p.Ile340Leu) c.871A>C (p.Ile291Leu) | |
| X | g.129562459A>G | CA414552614 | OCRL | c.*1307A>G (n.*1307A>G) c.1132A>G c.1015A>G (p.Ile339Val) c.1063A>G c.126A>G c.666A>G c.544A>G (p.Ile182Val) c.1018A>G (p.Ile340Val) c.871A>G (p.Ile291Val) | |
| X | g.129562459A>T | CA414552613 | OCRL | c.*1307A>T (n.*1307A>T) c.1132A>T c.1015A>T (p.Ile339Phe) c.1063A>T c.126A>T c.666A>T c.544A>T (p.Ile182Phe) c.1018A>T (p.Ile340Phe) c.871A>T (p.Ile291Phe) | |
| X | g.129562460T>A | CA414552615 | OCRL | c.*1308T>A (n.*1308T>A) c.1133T>A c.1016T>A (p.Ile339Asn) c.1064T>A c.127T>A c.667T>A c.545T>A (p.Ile182Asn) c.1019T>A (p.Ile340Asn) c.872T>A (p.Ile291Asn) | |
| X | g.129562460T>C | CA414552616 | OCRL | c.*1308T>C (n.*1308T>C) c.1133T>C c.1016T>C (p.Ile339Thr) c.1064T>C c.127T>C c.667T>C c.545T>C (p.Ile182Thr) c.1019T>C (p.Ile340Thr) c.872T>C (p.Ile291Thr) | |
| X | g.129562460T>G | CA414552617 | OCRL | c.*1308T>G (n.*1308T>G) c.1133T>G c.1016T>G (p.Ile339Ser) c.1064T>G c.127T>G c.667T>G c.545T>G (p.Ile182Ser) c.1019T>G (p.Ile340Ser) c.872T>G (p.Ile291Ser) | |
| X | g.129562461T>A | CA518471215 | OCRL | c.*1309T>A (n.*1309T>A) c.1134T>A c.1017T>A (p.Ile339=) c.1065T>A c.128T>A c.668T>A c.546T>A (p.Ile182=) c.1020T>A (p.Ile340=) c.873T>A (p.Ile291=) | |
| X | g.129562461T>C | CA518471217 | OCRL | c.*1309T>C (n.*1309T>C) c.1134T>C c.1017T>C (p.Ile339=) c.1065T>C c.128T>C c.668T>C c.546T>C (p.Ile182=) c.1020T>C (p.Ile340=) c.873T>C (p.Ile291=) | dbSNP |
| X | g.129562461T>G | CA414552618 | OCRL | c.*1309T>G (n.*1309T>G) c.1134T>G c.1017T>G (p.Ile339Met) c.1065T>G c.128T>G c.668T>G c.546T>G (p.Ile182Met) c.1020T>G (p.Ile340Met) c.873T>G (p.Ile291Met) | |
| X | g.129562461T= | CA2458099466 | OCRL | c.*1309T= (n.*1309T=) c.1134T= c.1017T= (p.Ile339=) c.1065T= c.128T= c.668T= c.546T= (p.Ile182=) c.1020T= (p.Ile340=) c.873T= (p.Ile291=) | |
| X | g.129562462G>A | CA414552619 | OCRL | c.*1310G>A (n.*1310G>A) c.1135G>A c.1018G>A (p.Ala340Thr) c.1066G>A c.129G>A c.669G>A c.547G>A (p.Ala183Thr) c.1021G>A (p.Ala341Thr) c.874G>A (p.Ala292Thr) | |
| X | g.129562462G>C | CA414552620 | OCRL | c.*1310G>C (n.*1310G>C) c.1135G>C c.1018G>C (p.Ala340Pro) c.1066G>C c.129G>C c.669G>C c.547G>C (p.Ala183Pro) c.1021G>C (p.Ala341Pro) c.874G>C (p.Ala292Pro) | |
| X | g.129562462G>T | CA414552621 | OCRL | c.*1310G>T (n.*1310G>T) c.1135G>T c.1018G>T (p.Ala340Ser) c.1066G>T c.129G>T c.669G>T c.547G>T (p.Ala183Ser) c.1021G>T (p.Ala341Ser) c.874G>T (p.Ala292Ser) | |
| X | g.129562463C>A | CA414552622 | OCRL | c.*1311C>A (n.*1311C>A) c.1136C>A c.1019C>A (p.Ala340Asp) c.1067C>A c.130C>A c.670C>A c.548C>A (p.Ala183Asp) c.1022C>A (p.Ala341Asp) c.875C>A (p.Ala292Asp) | |
| X | g.129562463C>G | CA414552623 | OCRL | c.*1311C>G (n.*1311C>G) c.1136C>G c.1019C>G (p.Ala340Gly) c.1067C>G c.130C>G c.670C>G c.548C>G (p.Ala183Gly) c.1022C>G (p.Ala341Gly) c.875C>G (p.Ala292Gly) | |
| X | g.129562463C>T | CA414552624 | OCRL | c.*1311C>T (n.*1311C>T) c.1136C>T c.1019C>T (p.Ala340Val) c.1067C>T c.130C>T c.670C>T c.548C>T (p.Ala183Val) c.1022C>T (p.Ala341Val) c.875C>T (p.Ala292Val) | |
| X | g.129562464T>A | CA518471224 | OCRL | c.*1312T>A (n.*1312T>A) c.1137T>A c.1020T>A (p.Ala340=) c.1068T>A c.131T>A c.671T>A c.549T>A (p.Ala183=) c.1023T>A (p.Ala341=) c.876T>A (p.Ala292=) | |
| X | g.129562464T>C | CA518471225 | OCRL | c.*1312T>C (n.*1312T>C) c.1137T>C c.1020T>C (p.Ala340=) c.1068T>C c.131T>C c.671T>C c.549T>C (p.Ala183=) c.1023T>C (p.Ala341=) c.876T>C (p.Ala292=) | gnomAD v4 |
| X | g.129562464T>G | CA518471226 | OCRL | c.*1312T>G (n.*1312T>G) c.1137T>G c.1020T>G (p.Ala340=) c.1068T>G c.131T>G c.671T>G c.549T>G (p.Ala183=) c.1023T>G (p.Ala341=) c.876T>G (p.Ala292=) | |
| X | g.129562465A= | CA2458099467 | OCRL | c.*1313A= (n.*1313A=) c.1138A= c.1021A= (p.Thr341=) c.1069A= c.132A= c.672A= c.550A= (p.Thr184=) c.1024A= (p.Thr342=) c.877A= (p.Thr293=) | |
| X | g.129562465A>C | CA414552625 | OCRL | c.*1313A>C (n.*1313A>C) c.1138A>C c.1021A>C (p.Thr341Pro) c.1069A>C c.132A>C c.672A>C c.550A>C (p.Thr184Pro) c.1024A>C (p.Thr342Pro) c.877A>C (p.Thr293Pro) | |
| X | g.129562465A>G | CA414552626 | OCRL | c.*1313A>G (n.*1313A>G) c.1138A>G c.1021A>G (p.Thr341Ala) c.1069A>G c.132A>G c.672A>G c.550A>G (p.Thr184Ala) c.1024A>G (p.Thr342Ala) c.877A>G (p.Thr293Ala) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.129562465A>T | CA414552627 | OCRL | c.*1313A>T (n.*1313A>T) c.1138A>T c.1021A>T (p.Thr341Ser) c.1069A>T c.132A>T c.672A>T c.550A>T (p.Thr184Ser) c.1024A>T (p.Thr342Ser) c.877A>T (p.Thr293Ser) | |
| X | g.129562466C>A | CA414552628 | OCRL | c.*1314C>A (n.*1314C>A) c.1139C>A c.1022C>A (p.Thr341Lys) c.1070C>A c.133C>A c.673C>A c.551C>A (p.Thr184Lys) c.1025C>A (p.Thr342Lys) c.878C>A (p.Thr293Lys) | |
| X | g.129562466C>G | CA414552630 | OCRL | c.*1314C>G (n.*1314C>G) c.1139C>G c.1022C>G (p.Thr341Arg) c.1070C>G c.133C>G c.673C>G c.551C>G (p.Thr184Arg) c.1025C>G (p.Thr342Arg) c.878C>G (p.Thr293Arg) | |
| X | g.129562466C>T | CA414552629 | OCRL | c.*1314C>T (n.*1314C>T) c.1139C>T c.1022C>T (p.Thr341Ile) c.1070C>T c.133C>T c.673C>T c.551C>T (p.Thr184Ile) c.1025C>T (p.Thr342Ile) c.878C>T (p.Thr293Ile) | |
| X | g.129562467A>C | CA518471229 | OCRL | c.*1315A>C (n.*1315A>C) c.1140A>C c.1023A>C (p.Thr341=) c.1071A>C c.134A>C c.674A>C c.552A>C (p.Thr184=) c.1026A>C (p.Thr342=) c.879A>C (p.Thr293=) | |
| X | g.129562467A>G | CA518471231 | OCRL | c.*1315A>G (n.*1315A>G) c.1140A>G c.1023A>G (p.Thr341=) c.1071A>G c.134A>G c.674A>G c.552A>G (p.Thr184=) c.1026A>G (p.Thr342=) c.879A>G (p.Thr293=) | COSMIC |
| X | g.129562467A>T | CA518471232 | OCRL | c.*1315A>T (n.*1315A>T) c.1140A>T c.1023A>T (p.Thr341=) c.1071A>T c.134A>T c.674A>T c.552A>T (p.Thr184=) c.1026A>T (p.Thr342=) c.879A>T (p.Thr293=) | |
| X | g.129562468G>A | CA414552631 | OCRL | c.*1316G>A (n.*1316G>A) c.1141G>A c.1024G>A (p.Glu342Lys) c.1072G>A c.135G>A c.675G>A c.553G>A (p.Glu185Lys) c.1027G>A (p.Glu343Lys) c.880G>A (p.Glu294Lys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.129562468G>C | CA414552632 | OCRL | c.*1316G>C (n.*1316G>C) c.1141G>C c.1024G>C (p.Glu342Gln) c.1072G>C c.135G>C c.675G>C c.553G>C (p.Glu185Gln) c.1027G>C (p.Glu343Gln) c.880G>C (p.Glu294Gln) | |
| X | g.129562468G= | CA2458099468 | OCRL | c.*1316G= (n.*1316G=) c.1141G= c.1024G= (p.Glu342=) c.1072G= c.135G= c.675G= c.553G= (p.Glu185=) c.1027G= (p.Glu343=) c.880G= (p.Glu294=) | |
| X | g.129562468G>T | CA414552633 | OCRL | c.*1316G>T (n.*1316G>T) c.1141G>T c.1024G>T (p.Glu342Ter) c.1072G>T c.135G>T c.675G>T c.553G>T (p.Glu185Ter) c.1027G>T (p.Glu343Ter) c.880G>T (p.Glu294Ter) | ClinVar |
| X | g.129562469A>C | CA414552634 | OCRL | c.*1317A>C (n.*1317A>C) c.1142A>C c.1025A>C (p.Glu342Ala) c.1073A>C c.136A>C c.676A>C c.554A>C (p.Glu185Ala) c.1028A>C (p.Glu343Ala) c.881A>C (p.Glu294Ala) | |
| X | g.129562469A>G | CA414552635 | OCRL | c.*1317A>G (n.*1317A>G) c.1142A>G c.1025A>G (p.Glu342Gly) c.1073A>G c.136A>G c.676A>G c.554A>G (p.Glu185Gly) c.1028A>G (p.Glu343Gly) c.881A>G (p.Glu294Gly) | |
| X | g.129562469A>T | CA414552636 | OCRL | c.*1317A>T (n.*1317A>T) c.1142A>T c.1025A>T (p.Glu342Val) c.1073A>T c.136A>T c.676A>T c.554A>T (p.Glu185Val) c.1028A>T (p.Glu343Val) c.881A>T (p.Glu294Val) | |
| X | g.129562470A>C | CA414552637 | OCRL | c.*1318A>C (n.*1318A>C) c.1143A>C c.1026A>C (p.Glu342Asp) c.1074A>C c.137A>C c.677A>C c.555A>C (p.Glu185Asp) c.1029A>C (p.Glu343Asp) c.882A>C (p.Glu294Asp) | |
| X | g.129562470A>G | CA518471234 | OCRL | c.*1318A>G (n.*1318A>G) c.1143A>G c.1026A>G (p.Glu342=) c.1074A>G c.137A>G c.677A>G c.555A>G (p.Glu185=) c.1029A>G (p.Glu343=) c.882A>G (p.Glu294=) | |
| X | g.129562470A>T | CA414552638 | OCRL | c.*1318A>T (n.*1318A>T) c.1143A>T c.1026A>T (p.Glu342Asp) c.1074A>T c.137A>T c.677A>T c.555A>T (p.Glu185Asp) c.1029A>T (p.Glu343Asp) c.882A>T (p.Glu294Asp) | |
| X | g.129562471A>C | CA414552639 | OCRL | c.*1319A>C (n.*1319A>C) c.1144A>C c.1027A>C (p.Thr343Pro) c.1075A>C c.138A>C c.678A>C c.556A>C (p.Thr186Pro) c.1030A>C (p.Thr344Pro) c.883A>C (p.Thr295Pro) | |
| X | g.129562471A>G | CA414552640 | OCRL | c.*1319A>G (n.*1319A>G) c.1144A>G c.1027A>G (p.Thr343Ala) c.1075A>G c.138A>G c.678A>G c.556A>G (p.Thr186Ala) c.1030A>G (p.Thr344Ala) c.883A>G (p.Thr295Ala) | |
| X | g.129562471A>T | CA414552641 | OCRL | c.*1319A>T (n.*1319A>T) c.1144A>T c.1027A>T (p.Thr343Ser) c.1075A>T c.138A>T c.678A>T c.556A>T (p.Thr186Ser) c.1030A>T (p.Thr344Ser) c.883A>T (p.Thr295Ser) | |
| X | g.129562472C>A | CA414552644 | OCRL | c.*1320C>A (n.*1320C>A) c.1145C>A c.1028C>A (p.Thr343Lys) c.1076C>A c.139C>A c.679C>A c.557C>A (p.Thr186Lys) c.1031C>A (p.Thr344Lys) c.884C>A (p.Thr295Lys) | |
| X | g.129562472C>G | CA414552643 | OCRL | c.*1320C>G (n.*1320C>G) c.1145C>G c.1028C>G (p.Thr343Arg) c.1076C>G c.139C>G c.679C>G c.557C>G (p.Thr186Arg) c.1031C>G (p.Thr344Arg) c.884C>G (p.Thr295Arg) | |
| X | g.129562472C>T | CA414552642 | OCRL | c.*1320C>T (n.*1320C>T) c.1145C>T c.1028C>T (p.Thr343Ile) c.1076C>T c.139C>T c.679C>T c.557C>T (p.Thr186Ile) c.1031C>T (p.Thr344Ile) c.884C>T (p.Thr295Ile) | |
| X | g.129562473A>C | CA518471237 | OCRL | c.*1321A>C (n.*1321A>C) c.1146A>C c.1029A>C (p.Thr343=) c.1077A>C c.140A>C c.680A>C c.558A>C (p.Thr186=) c.1032A>C (p.Thr344=) c.885A>C (p.Thr295=) | |
| X | g.129562473A>G | CA518471242 | OCRL | c.*1321A>G (n.*1321A>G) c.1146A>G c.1029A>G (p.Thr343=) c.1077A>G c.140A>G c.680A>G c.558A>G (p.Thr186=) c.1032A>G (p.Thr344=) c.885A>G (p.Thr295=) | |
| X | g.129562473A>T | CA518471239 | OCRL | c.*1321A>T (n.*1321A>T) c.1146A>T c.1029A>T (p.Thr343=) c.1077A>T c.140A>T c.680A>T c.558A>T (p.Thr186=) c.1032A>T (p.Thr344=) c.885A>T (p.Thr295=) | |
| X | g.129562474G>A | CA414552647 | OCRL | c.*1322G>A (n.*1322G>A) c.1147G>A c.1030G>A (p.Val344Ile) c.1078G>A c.141G>A c.681G>A c.559G>A (p.Val187Ile) c.1033G>A (p.Val345Ile) c.886G>A (p.Val296Ile) | gnomAD v4 |
| X | g.129562474G>C | CA414552645 | OCRL | c.*1322G>C (n.*1322G>C) c.1147G>C c.1030G>C (p.Val344Leu) c.1078G>C c.141G>C c.681G>C c.559G>C (p.Val187Leu) c.1033G>C (p.Val345Leu) c.886G>C (p.Val296Leu) | gnomAD v4 |
| X | g.129562474G>T | CA414552646 | OCRL | c.*1322G>T (n.*1322G>T) c.1147G>T c.1030G>T (p.Val344Phe) c.1078G>T c.141G>T c.681G>T c.559G>T (p.Val187Phe) c.1033G>T (p.Val345Phe) c.886G>T (p.Val296Phe) | |
| X | g.129562475T>A | CA414552648 | OCRL | c.*1323T>A (n.*1323T>A) c.1148T>A c.1031T>A (p.Val344Asp) c.1079T>A c.142T>A c.682T>A c.560T>A (p.Val187Asp) c.1034T>A (p.Val345Asp) c.887T>A (p.Val296Asp) | |
| X | g.129562475T>C | CA10512127 | OCRL | c.*1323T>C (n.*1323T>C) c.1148T>C c.1031T>C (p.Val344Ala) c.1079T>C c.142T>C c.682T>C c.560T>C (p.Val187Ala) c.1034T>C (p.Val345Ala) c.887T>C (p.Val296Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.129562475T>G | CA414552649 | OCRL | c.*1323T>G (n.*1323T>G) c.1148T>G c.1031T>G (p.Val344Gly) c.1079T>G c.142T>G c.682T>G c.560T>G (p.Val187Gly) c.1034T>G (p.Val345Gly) c.887T>G (p.Val296Gly) | |
| X | g.129562475T= | CA2458099469 | OCRL | c.*1323T= (n.*1323T=) c.1148T= c.1031T= (p.Val344=) c.1079T= c.142T= c.682T= c.560T= (p.Val187=) c.1034T= (p.Val345=) c.887T= (p.Val296=) | |
| X | g.129562476T>A | CA518471248 | OCRL | c.*1324T>A (n.*1324T>A) c.1149T>A c.1032T>A (p.Val344=) c.1080T>A c.143T>A c.683T>A c.561T>A (p.Val187=) c.1035T>A (p.Val345=) c.888T>A (p.Val296=) | |
| X | g.129562476T>C | CA518471249 | OCRL | c.*1324T>C (n.*1324T>C) c.1149T>C c.1032T>C (p.Val344=) c.1080T>C c.143T>C c.683T>C c.561T>C (p.Val187=) c.1035T>C (p.Val345=) c.888T>C (p.Val296=) | |
| X | g.129562476T>G | CA518471250 | OCRL | c.*1324T>G (n.*1324T>G) c.1149T>G c.1032T>G (p.Val344=) c.1080T>G c.143T>G c.683T>G c.561T>G (p.Val187=) c.1035T>G (p.Val345=) c.888T>G (p.Val296=) | |
| X | g.129562477G>A | CA414552652 | OCRL | c.*1325G>A (n.*1325G>A) c.1150G>A c.1033G>A (p.Gly345Arg) c.1081G>A c.144G>A c.684G>A c.562G>A (p.Gly188Arg) c.1036G>A (p.Gly346Arg) c.889G>A (p.Gly297Arg) | |
| X | g.129562477G>C | CA414552651 | OCRL | c.*1325G>C (n.*1325G>C) c.1150G>C c.1033G>C (p.Gly345Arg) c.1081G>C c.144G>C c.684G>C c.562G>C (p.Gly188Arg) c.1036G>C (p.Gly346Arg) c.889G>C (p.Gly297Arg) | |
| X | g.129562477G>T | CA414552650 | OCRL | c.*1325G>T (n.*1325G>T) c.1150G>T c.1033G>T (p.Gly345Ter) c.1081G>T c.144G>T c.684G>T c.562G>T (p.Gly188Ter) c.1036G>T (p.Gly346Ter) c.889G>T (p.Gly297Ter) | |
| X | g.129562478G>A | CA414552653 | OCRL | c.*1326G>A (n.*1326G>A) c.1151G>A c.1034G>A (p.Gly345Glu) c.1082G>A c.145G>A c.685G>A c.563G>A (p.Gly188Glu) c.1037G>A (p.Gly346Glu) c.890G>A (p.Gly297Glu) | |
| X | g.129562478G>C | CA414552654 | OCRL | c.*1326G>C (n.*1326G>C) c.1151G>C c.1034G>C (p.Gly345Ala) c.1082G>C c.145G>C c.685G>C c.563G>C (p.Gly188Ala) c.1037G>C (p.Gly346Ala) c.890G>C (p.Gly297Ala) | gnomAD v4 |
| X | g.129562478G>T | CA414552655 | OCRL | c.*1326G>T (n.*1326G>T) c.1151G>T c.1034G>T (p.Gly345Val) c.1082G>T c.145G>T c.685G>T c.563G>T (p.Gly188Val) c.1037G>T (p.Gly346Val) c.890G>T (p.Gly297Val) | |
| X | g.129562479A>C | CA518471254 | OCRL | c.*1327A>C (n.*1327A>C) c.1152A>C c.1035A>C (p.Gly345=) c.1083A>C c.146A>C c.686A>C c.564A>C (p.Gly188=) c.1038A>C (p.Gly346=) c.891A>C (p.Gly297=) | |
| X | g.129562479A>G | CA518471256 | OCRL | c.*1327A>G (n.*1327A>G) c.1152A>G c.1035A>G (p.Gly345=) c.1083A>G c.146A>G c.686A>G c.564A>G (p.Gly188=) c.1038A>G (p.Gly346=) c.891A>G (p.Gly297=) | |
| X | g.129562479A>T | CA518471255 | OCRL | c.*1327A>T (n.*1327A>T) c.1152A>T c.1035A>T (p.Gly345=) c.1083A>T c.146A>T c.686A>T c.564A>T (p.Gly188=) c.1038A>T (p.Gly346=) c.891A>T (p.Gly297=) | gnomAD v4 |
| X | g.129562480A>C | CA414552656 | OCRL | c.*1328A>C (n.*1328A>C) c.1153A>C c.1036A>C (p.Thr346Pro) c.1084A>C c.147A>C c.687A>C c.565A>C (p.Thr189Pro) c.1039A>C (p.Thr347Pro) c.892A>C (p.Thr298Pro) | |
| X | g.129562480A>G | CA414552657 | OCRL | c.*1328A>G (n.*1328A>G) c.1153A>G c.1036A>G (p.Thr346Ala) c.1084A>G c.147A>G c.687A>G c.565A>G (p.Thr189Ala) c.1039A>G (p.Thr347Ala) c.892A>G (p.Thr298Ala) | |
| X | g.129562480A>T | CA414552658 | OCRL | c.*1328A>T (n.*1328A>T) c.1153A>T c.1036A>T (p.Thr346Ser) c.1084A>T c.147A>T c.687A>T c.565A>T (p.Thr189Ser) c.1039A>T (p.Thr347Ser) c.892A>T (p.Thr298Ser) | |
| X | g.129562481C>A | CA414552661 | OCRL | c.*1329C>A (n.*1329C>A) c.1154C>A c.1037C>A (p.Thr346Asn) c.1085C>A c.148C>A c.688C>A c.566C>A (p.Thr189Asn) c.1040C>A (p.Thr347Asn) c.893C>A (p.Thr298Asn) | |
| X | g.129562481C>G | CA414552659 | OCRL | c.*1329C>G (n.*1329C>G) c.1154C>G c.1037C>G (p.Thr346Ser) c.1085C>G c.148C>G c.688C>G c.566C>G (p.Thr189Ser) c.1040C>G (p.Thr347Ser) c.893C>G (p.Thr298Ser) | |
| X | g.129562481C>T | CA414552660 | OCRL | c.*1329C>T (n.*1329C>T) c.1154C>T c.1037C>T (p.Thr346Ile) c.1085C>T c.148C>T c.688C>T c.566C>T (p.Thr189Ile) c.1040C>T (p.Thr347Ile) c.893C>T (p.Thr298Ile) | |
| X | g.129562482T>A | CA518471260 | OCRL | c.*1330T>A (n.*1330T>A) c.1155T>A c.1038T>A (p.Thr346=) c.1086T>A c.149T>A c.689T>A c.567T>A (p.Thr189=) c.1041T>A (p.Thr347=) c.894T>A (p.Thr298=) | |
| X | g.129562482T>C | CA518471261 | OCRL | c.*1330T>C (n.*1330T>C) c.1155T>C c.1038T>C (p.Thr346=) c.1086T>C c.149T>C c.689T>C c.567T>C (p.Thr189=) c.1041T>C (p.Thr347=) c.894T>C (p.Thr298=) | |
| X | g.129562482T>G | CA518471262 | OCRL | c.*1330T>G (n.*1330T>G) c.1155T>G c.1038T>G (p.Thr346=) c.1086T>G c.149T>G c.689T>G c.567T>G (p.Thr189=) c.1041T>G (p.Thr347=) c.894T>G (p.Thr298=) | |
| X | g.129562483G>A | CA414552662 | OCRL | c.*1331G>A (n.*1331G>A) c.1156G>A c.1039G>A (p.Gly347Arg) c.1087G>A c.150G>A c.690G>A c.568G>A (p.Gly190Arg) c.1042G>A (p.Gly348Arg) c.895G>A (p.Gly299Arg) | |
| X | g.129562483G>C | CA414552663 | OCRL | c.*1331G>C (n.*1331G>C) c.1156G>C c.1039G>C (p.Gly347Arg) c.1087G>C c.150G>C c.690G>C c.568G>C (p.Gly190Arg) c.1042G>C (p.Gly348Arg) c.895G>C (p.Gly299Arg) | |
| X | g.129562483G>T | CA414552664 | OCRL | c.*1331G>T (n.*1331G>T) c.1156G>T c.1039G>T (p.Gly347Ter) c.1087G>T c.150G>T c.690G>T c.568G>T (p.Gly190Ter) c.1042G>T (p.Gly348Ter) c.895G>T (p.Gly299Ter) | |
| X | g.129562484G>A | CA16608261 | OCRL | c.*1332G>A (n.*1332G>A) c.1157G>A c.1040G>A (p.Gly347Glu) c.1088G>A c.151G>A c.691G>A c.569G>A (p.Gly190Glu) c.1043G>A (p.Gly348Glu) c.896G>A (p.Gly299Glu) | ClinVar dbSNP |
| X | g.129562484G>C | CA414552665 | OCRL | c.*1332G>C (n.*1332G>C) c.1157G>C c.1040G>C (p.Gly347Ala) c.1088G>C c.151G>C c.691G>C c.569G>C (p.Gly190Ala) c.1043G>C (p.Gly348Ala) c.896G>C (p.Gly299Ala) | |
| X | g.129562484G= | CA2458099470 | OCRL | c.*1332G= (n.*1332G=) c.1157G= c.1040G= (p.Gly347=) c.1088G= c.151G= c.691G= c.569G= (p.Gly190=) c.1043G= (p.Gly348=) c.896G= (p.Gly299=) | |
| X | g.129562484G>T | CA414552666 | OCRL | c.*1332G>T (n.*1332G>T) c.1157G>T c.1040G>T (p.Gly347Val) c.1088G>T c.151G>T c.691G>T c.569G>T (p.Gly190Val) c.1043G>T (p.Gly348Val) c.896G>T (p.Gly299Val) | |
| X | g.129562485A= | CA2458099471 | OCRL | c.*1333A= (n.*1333A=) c.1158A= c.1041A= (p.Gly347=) c.1089A= c.152A= c.692A= c.570A= (p.Gly190=) c.1044A= (p.Gly348=) c.897A= (p.Gly299=) | |
| X | g.129562485A>C | CA518471269 | OCRL | c.*1333A>C (n.*1333A>C) c.1158A>C c.1041A>C (p.Gly347=) c.1089A>C c.152A>C c.692A>C c.570A>C (p.Gly190=) c.1044A>C (p.Gly348=) c.897A>C (p.Gly299=) | dbSNP gnomAD v4 |
| X | g.129562485A>G | CA518471270 | OCRL | c.*1333A>G (n.*1333A>G) c.1158A>G c.1041A>G (p.Gly347=) c.1089A>G c.152A>G c.692A>G c.570A>G (p.Gly190=) c.1044A>G (p.Gly348=) c.897A>G (p.Gly299=) | |
| X | g.129562485A>T | CA518471271 | OCRL | c.*1333A>T (n.*1333A>T) c.1158A>T c.1041A>T (p.Gly347=) c.1089A>T c.152A>T c.692A>T c.570A>T (p.Gly190=) c.1044A>T (p.Gly348=) c.897A>T (p.Gly299=) | |
| X | g.129562486A>C | CA414552667 | OCRL | c.*1334A>C (n.*1334A>C) c.1159A>C c.1042A>C (p.Ile348Leu) c.1090A>C c.153A>C c.693A>C c.571A>C (p.Ile191Leu) c.1045A>C (p.Ile349Leu) c.898A>C (p.Ile300Leu) | |
| X | g.129562486A>G | CA414552668 | OCRL | c.*1334A>G (n.*1334A>G) c.1159A>G c.1042A>G (p.Ile348Val) c.1090A>G c.153A>G c.693A>G c.571A>G (p.Ile191Val) c.1045A>G (p.Ile349Val) c.898A>G (p.Ile300Val) | |
| X | g.129562486A>T | CA414552669 | OCRL | c.*1334A>T (n.*1334A>T) c.1159A>T c.1042A>T (p.Ile348Phe) c.1090A>T c.153A>T c.693A>T c.571A>T (p.Ile191Phe) c.1045A>T (p.Ile349Phe) c.898A>T (p.Ile300Phe) | |
| X | g.129562487T>A | CA414552670 | OCRL | c.*1335T>A (n.*1335T>A) c.1160T>A c.1043T>A (p.Ile348Asn) c.1091T>A c.154T>A c.694T>A c.572T>A (p.Ile191Asn) c.1046T>A (p.Ile349Asn) c.899T>A (p.Ile300Asn) | |
| X | g.129562487T>C | CA414552671 | OCRL | c.*1335T>C (n.*1335T>C) c.1160T>C c.1043T>C (p.Ile348Thr) c.1091T>C c.154T>C c.694T>C c.572T>C (p.Ile191Thr) c.1046T>C (p.Ile349Thr) c.899T>C (p.Ile300Thr) | |
| X | g.129562487T>G | CA414552672 | OCRL | c.*1335T>G (n.*1335T>G) c.1160T>G c.1043T>G (p.Ile348Ser) c.1091T>G c.154T>G c.694T>G c.572T>G (p.Ile191Ser) c.1046T>G (p.Ile349Ser) c.899T>G (p.Ile300Ser) | |
| X | g.129562488C>A | CA518471275 | OCRL | c.*1336C>A (n.*1336C>A) c.1161C>A c.1044C>A (p.Ile348=) c.1092C>A c.155C>A c.695C>A c.573C>A (p.Ile191=) c.1047C>A (p.Ile349=) c.900C>A (p.Ile300=) | COSMIC |
| X | g.129562488C>G | CA414552673 | OCRL | c.*1336C>G (n.*1336C>G) c.1161C>G c.1044C>G (p.Ile348Met) c.1092C>G c.155C>G c.695C>G c.573C>G (p.Ile191Met) c.1047C>G (p.Ile349Met) c.900C>G (p.Ile300Met) | |
| X | g.129562488C>T | CA518471273 | OCRL | c.*1336C>T (n.*1336C>T) c.1161C>T c.1044C>T (p.Ile348=) c.1092C>T c.155C>T c.695C>T c.573C>T (p.Ile191=) c.1047C>T (p.Ile349=) c.900C>T (p.Ile300=) |