| 14 | g.100883279_100883292del | CA2802833488 | RTL1 | c.1497_1510del (p.Phe500ArgfsTer?)
| |
| 14 | g.100883284A>C | CA390996026 | RTL1 | c.1505T>G (p.Val502Gly)
| |
| 14 | g.100883284A>G | CA390996027 | RTL1 | c.1505T>C (p.Val502Ala)
| gnomAD v4 |
| 14 | g.100883284A>T | CA390996028 | RTL1 | c.1505T>A (p.Val502Glu)
| |
| 14 | g.100883285C>A | CA390996029 | RTL1 | c.1504G>T (p.Val502Leu)
| |
| 14 | g.100883285C= | CA2159075045 | RTL1 | c.1504G= (p.Val502=)
| |
| 14 | g.100883285C>G | CA390996030 | RTL1 | c.1504G>C (p.Val502Leu)
| |
| 14 | g.100883285C>T | CA390996031 | RTL1 | c.1504G>A (p.Val502Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883286A>C | CA488181880 | RTL1 | c.1503T>G (p.Ser501=)
| |
| 14 | g.100883286A>G | CA488181881 | RTL1 | c.1503T>C (p.Ser501=)
| |
| 14 | g.100883286A>T | CA488181882 | RTL1 | c.1503T>A (p.Ser501=)
| |
| 14 | g.100883287G>A | CA390996032 | RTL1 | c.1502C>T (p.Ser501Phe)
| |
| 14 | g.100883287G>C | CA390996033 | RTL1 | c.1502C>G (p.Ser501Cys)
| |
| 14 | g.100883287G>T | CA390996034 | RTL1 | c.1502C>A (p.Ser501Tyr)
| |
| 14 | g.100883288A>C | CA390996037 | RTL1 | c.1501T>G (p.Ser501Ala)
| |
| 14 | g.100883288A>G | CA390996036 | RTL1 | c.1501T>C (p.Ser501Pro)
| |
| 14 | g.100883288A>T | CA390996035 | RTL1 | c.1501T>A (p.Ser501Thr)
| |
| 14 | g.100883289G>A | CA488181887 | RTL1 | c.1500C>T (p.Phe500=)
| |
| 14 | g.100883289G>C | CA390996038 | RTL1 | c.1500C>G (p.Phe500Leu)
| |
| 14 | g.100883289G>T | CA390996039 | RTL1 | c.1500C>A (p.Phe500Leu)
| |
| 14 | g.100883290A>C | CA390996040 | RTL1 | c.1499T>G (p.Phe500Cys)
| |
| 14 | g.100883290A>G | CA390996041 | RTL1 | c.1499T>C (p.Phe500Ser)
| |
| 14 | g.100883290A>T | CA390996042 | RTL1 | c.1499T>A (p.Phe500Tyr)
| |
| 14 | g.100883290_100883291insCCAAACACACCCAACAC | CA2802833489 | RTL1 | c.1498_1499insGTGTTGGGTGTGTTTGG (p.Phe500CysfsTer11)
| |
| 14 | g.100883291A>C | CA390996043 | RTL1 | c.1498T>G (p.Phe500Val)
| |
| 14 | g.100883291A>G | CA390996044 | RTL1 | c.1498T>C (p.Phe500Leu)
| gnomAD v4 |
| 14 | g.100883291A>T | CA390996045 | RTL1 | c.1498T>A (p.Phe500Ile)
| |
| 14 | g.100883292G>A | CA488181891 | RTL1 | c.1497C>T (p.Asn499=)
| gnomAD v4 |
| 14 | g.100883292G>C | CA390996046 | RTL1 | c.1497C>G (p.Asn499Lys)
| |
| 14 | g.100883292G>T | CA390996047 | RTL1 | c.1497C>A (p.Asn499Lys)
| |
| 14 | g.100883293T>A | CA390996048 | RTL1 | c.1496A>T (p.Asn499Ile)
| |
| 14 | g.100883293T>C | CA390996049 | RTL1 | c.1496A>G (p.Asn499Ser)
| dbSNP gnomAD v2 |
| 14 | g.100883293T>G | CA390996050 | RTL1 | c.1496A>C (p.Asn499Thr)
| gnomAD v4 |
| 14 | g.100883293T= | CA2159075047 | RTL1 | c.1496A= (p.Asn499=)
| |
| 14 | g.100883294T>A | CA390996053 | RTL1 | c.1495A>T (p.Asn499Tyr)
| gnomAD v4 |
| 14 | g.100883294T>C | CA390996052 | RTL1 | c.1495A>G (p.Asn499Asp)
| |
| 14 | g.100883294T>G | CA390996051 | RTL1 | c.1495A>C (p.Asn499His)
| |
| 14 | g.100883294_100883299del | CA2802833490 | RTL1 | c.1490_1495del (p.Ser497_Asn499delinsTyr)
| |
| 14 | g.100883295C>A | CA488181893 | RTL1 | c.1494G>T (p.Pro498=)
| |
| 14 | g.100883295C= | CA2159075048 | RTL1 | c.1494G= (p.Pro498=)
| |
| 14 | g.100883295C>G | CA488181894 | RTL1 | c.1494G>C (p.Pro498=)
| |
| 14 | g.100883295C>T | CA7347311 | RTL1 | c.1494G>A (p.Pro498=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883296G>A | CA390996054 | RTL1 | c.1493C>T (p.Pro498Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883296G>C | CA390996055 | RTL1 | c.1493C>G (p.Pro498Arg)
| |
| 14 | g.100883296G= | CA2159075049 | RTL1 | c.1493C= (p.Pro498=)
| |
| 14 | g.100883296G>T | CA390996056 | RTL1 | c.1493C>A (p.Pro498Gln)
| |
| 14 | g.100883297G>A | CA390996057 | RTL1 | c.1492C>T (p.Pro498Ser)
| COSMIC |
| 14 | g.100883297G>C | CA390996058 | RTL1 | c.1492C>G (p.Pro498Ala)
| |
| 14 | g.100883297G= | CA2159075050 | RTL1 | c.1492C= (p.Pro498=)
| |
| 14 | g.100883297G>T | CA390996059 | RTL1 | c.1492C>A (p.Pro498Thr)
| dbSNP |
| 14 | g.100883298T>A | CA488181900 | RTL1 | c.1491A>T (p.Ser497=)
| |
| 14 | g.100883298T>C | CA488181903 | RTL1 | c.1491A>G (p.Ser497=)
| |
| 14 | g.100883298T>G | CA488181902 | RTL1 | c.1491A>C (p.Ser497=)
| |
| 14 | g.100883299G>A | CA390996060 | RTL1 | c.1490C>T (p.Ser497Leu)
| |
| 14 | g.100883299G>C | CA390996061 | RTL1 | c.1490C>G (p.Ser497Ter)
| |
| 14 | g.100883299G>T | CA390996062 | RTL1 | c.1490C>A (p.Ser497Ter)
| |
| 14 | g.100883300A= | CA2159075051 | RTL1 | c.1489T= (p.Ser497=)
| |
| 14 | g.100883300A>C | CA390996063 | RTL1 | c.1489T>G (p.Ser497Ala)
| |
| 14 | g.100883300A>G | CA266905542 | RTL1 | c.1489T>C (p.Ser497Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883300A>T | CA390996064 | RTL1 | c.1489T>A (p.Ser497Thr)
| |
| 14 | g.100883301A>C | CA488181905 | RTL1 | c.1488T>G (p.Pro496=)
| gnomAD v4 |
| 14 | g.100883301A>G | CA488181907 | RTL1 | c.1488T>C (p.Pro496=)
| |
| 14 | g.100883301A>T | CA488181908 | RTL1 | c.1488T>A (p.Pro496=)
| |
| 14 | g.100883302G>A | CA390996066 | RTL1 | c.1487C>T (p.Pro496Leu)
| gnomAD v4 |
| 14 | g.100883302G>C | CA390996067 | RTL1 | c.1487C>G (p.Pro496Arg)
| |
| 14 | g.100883302G>T | CA390996065 | RTL1 | c.1487C>A (p.Pro496His)
| |
| 14 | g.100883303G>A | CA390996068 | RTL1 | c.1486C>T (p.Pro496Ser)
| |
| 14 | g.100883303G>C | CA390996069 | RTL1 | c.1486C>G (p.Pro496Ala)
| |
| 14 | g.100883303G>T | CA390996070 | RTL1 | c.1486C>A (p.Pro496Thr)
| |
| 14 | g.100883304T>A | CA488181910 | RTL1 | c.1485A>T (p.Val495=)
| |
| 14 | g.100883304T>C | CA266905553 | RTL1 | c.1485A>G (p.Val495=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883304T>G | CA488181913 | RTL1 | c.1485A>C (p.Val495=)
| |
| 14 | g.100883304T= | CA2159075052 | RTL1 | c.1485A= (p.Val495=)
| |
| 14 | g.100883305A>C | CA390996071 | RTL1 | c.1484T>G (p.Val495Gly)
| |
| 14 | g.100883305A>G | CA390996072 | RTL1 | c.1484T>C (p.Val495Ala)
| |
| 14 | g.100883305A>T | CA390996073 | RTL1 | c.1484T>A (p.Val495Glu)
| |
| 14 | g.100883306C>A | CA390996074 | RTL1 | c.1483G>T (p.Val495Leu)
| gnomAD v4 |
| 14 | g.100883306C= | CA2159075053 | RTL1 | c.1483G= (p.Val495=)
| |
| 14 | g.100883306C>G | CA390996075 | RTL1 | c.1483G>C (p.Val495Leu)
| |
| 14 | g.100883306C>T | CA390996076 | RTL1 | c.1483G>A (p.Val495Ile)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.100883307G>A | CA7347312 | RTL1 | c.1482C>T (p.Ile494=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.100883307G>C | CA390996077 | RTL1 | c.1482C>G (p.Ile494Met)
| |
| 14 | g.100883307G= | CA2159075054 | RTL1 | c.1482C= (p.Ile494=)
| |
| 14 | g.100883307G>T | CA488181920 | RTL1 | c.1482C>A (p.Ile494=)
| |
| 14 | g.100883308A>C | CA390996080 | RTL1 | c.1481T>G (p.Ile494Ser)
| |
| 14 | g.100883308A>G | CA390996078 | RTL1 | c.1481T>C (p.Ile494Thr)
| |
| 14 | g.100883308A>T | CA390996079 | RTL1 | c.1481T>A (p.Ile494Asn)
| |
| 14 | g.100883309T>A | CA390996081 | RTL1 | c.1480A>T (p.Ile494Phe)
| |
| 14 | g.100883309T>C | CA390996082 | RTL1 | c.1480A>G (p.Ile494Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883309T>G | CA390996083 | RTL1 | c.1480A>C (p.Ile494Leu)
| |
| 14 | g.100883309T= | CA2159075055 | RTL1 | c.1480A= (p.Ile494=)
| |
| 14 | g.100883310G>A | CA488181923 | RTL1 | c.1479C>T (p.Asp493=)
| |
| 14 | g.100883310G>C | CA390996084 | RTL1 | c.1479C>G (p.Asp493Glu)
| |
| 14 | g.100883310G>T | CA390996085 | RTL1 | c.1479C>A (p.Asp493Glu)
| |
| 14 | g.100883311T>A | CA390996086 | RTL1 | c.1478A>T (p.Asp493Val)
| gnomAD v4 |
| 14 | g.100883311T>C | CA390996087 | RTL1 | c.1478A>G (p.Asp493Gly)
| |
| 14 | g.100883311T>G | CA390996088 | RTL1 | c.1478A>C (p.Asp493Ala)
| |
| 14 | g.100883312C>A | CA390996089 | RTL1 | c.1477G>T (p.Asp493Tyr)
| |
| 14 | g.100883312C>G | CA390996090 | RTL1 | c.1477G>C (p.Asp493His)
| |
| 14 | g.100883312C>T | CA390996091 | RTL1 | c.1477G>A (p.Asp493Asn)
| |
| 14 | g.100883313A>C | CA390996093 | RTL1 | c.1476T>G (p.Phe492Leu)
| |
| 14 | g.100883313A>G | CA488181931 | RTL1 | c.1476T>C (p.Phe492=)
| |
| 14 | g.100883313A>T | CA390996092 | RTL1 | c.1476T>A (p.Phe492Leu)
| |
| 14 | g.100883314A>C | CA390996094 | RTL1 | c.1475T>G (p.Phe492Cys)
| |
| 14 | g.100883314A>G | CA390996096 | RTL1 | c.1475T>C (p.Phe492Ser)
| |
| 14 | g.100883314A>T | CA390996095 | RTL1 | c.1475T>A (p.Phe492Tyr)
| COSMIC |
| 14 | g.100883315A>C | CA390996097 | RTL1 | c.1474T>G (p.Phe492Val)
| |
| 14 | g.100883315A>G | CA390996098 | RTL1 | c.1474T>C (p.Phe492Leu)
| |
| 14 | g.100883315A>T | CA390996099 | RTL1 | c.1474T>A (p.Phe492Ile)
| |
| 14 | g.100883316T>A | CA390996100 | RTL1 | c.1473A>T (p.Glu491Asp)
| |
| 14 | g.100883316T>C | CA488181934 | RTL1 | c.1473A>G (p.Glu491=)
| |
| 14 | g.100883316T>G | CA390996101 | RTL1 | c.1473A>C (p.Glu491Asp)
| |
| 14 | g.100883317T>A | CA390996102 | RTL1 | c.1472A>T (p.Glu491Val)
| |
| 14 | g.100883317T>C | CA390996103 | RTL1 | c.1472A>G (p.Glu491Gly)
| |
| 14 | g.100883317T>G | CA390996104 | RTL1 | c.1472A>C (p.Glu491Ala)
| |
| 14 | g.100883318C>A | CA390996105 | RTL1 | c.1471G>T (p.Glu491Ter)
| |
| 14 | g.100883318C= | CA2159075056 | RTL1 | c.1471G= (p.Glu491=)
| |
| 14 | g.100883318C>G | CA390996106 | RTL1 | c.1471G>C (p.Glu491Gln)
| |
| 14 | g.100883318C>T | CA266905568 | RTL1 | c.1471G>A (p.Glu491Lys)
| dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883319G>A | CA266905573 | RTL1 | c.1470C>T (p.Ile490=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883319G>C | CA390996107 | RTL1 | c.1470C>G (p.Ile490Met)
| |
| 14 | g.100883319G= | CA2159075057 | RTL1 | c.1470C= (p.Ile490=)
| |
| 14 | g.100883319G>T | CA488181937 | RTL1 | c.1470C>A (p.Ile490=)
| dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883320A>C | CA390996110 | RTL1 | c.1469T>G (p.Ile490Ser)
| |
| 14 | g.100883320A>G | CA390996108 | RTL1 | c.1469T>C (p.Ile490Thr)
| |
| 14 | g.100883320A>T | CA390996109 | RTL1 | c.1469T>A (p.Ile490Asn)
| |
| 14 | g.100883321T>A | CA390996111 | RTL1 | c.1468A>T (p.Ile490Phe)
| |
| 14 | g.100883321T>C | CA390996112 | RTL1 | c.1468A>G (p.Ile490Val)
| dbSNP gnomAD v4 |
| 14 | g.100883321T>G | CA390996113 | RTL1 | c.1468A>C (p.Ile490Leu)
| |
| 14 | g.100883321T= | CA2159075058 | RTL1 | c.1468A= (p.Ile490=)
| |
| 14 | g.100883322G>A | CA488181944 | RTL1 | c.1467C>T (p.Ser489=)
| |
| 14 | g.100883322G>C | CA488181946 | RTL1 | c.1467C>G (p.Ser489=)
| dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883322G>T | CA488181948 | RTL1 | c.1467C>A (p.Ser489=)
| |
| 14 | g.100883323G>A | CA390996114 | RTL1 | c.1466C>T (p.Ser489Phe)
| gnomAD v4 |
| 14 | g.100883323G>C | CA390996115 | RTL1 | c.1466C>G (p.Ser489Cys)
| |
| 14 | g.100883323G>T | CA390996116 | RTL1 | c.1466C>A (p.Ser489Tyr)
| |
| 14 | g.100883324A>C | CA390996117 | RTL1 | c.1465T>G (p.Ser489Ala)
| gnomAD v4 |
| 14 | g.100883324A>G | CA390996118 | RTL1 | c.1465T>C (p.Ser489Pro)
| gnomAD v4 |
| 14 | g.100883324A>T | CA390996119 | RTL1 | c.1465T>A (p.Ser489Thr)
| |
| 14 | g.100883325C>A | CA390996120 | RTL1 | c.1464G>T (p.Glu488Asp)
| |
| 14 | g.100883325C= | CA2159075059 | RTL1 | c.1464G= (p.Glu488=)
| |
| 14 | g.100883325C>G | CA390996121 | RTL1 | c.1464G>C (p.Glu488Asp)
| |
| 14 | g.100883325C>T | CA488181955 | RTL1 | c.1464G>A (p.Glu488=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883326T>A | CA390996124 | RTL1 | c.1463A>T (p.Glu488Val)
| |
| 14 | g.100883326T>C | CA390996123 | RTL1 | c.1463A>G (p.Glu488Gly)
| |
| 14 | g.100883326T>G | CA390996122 | RTL1 | c.1463A>C (p.Glu488Ala)
| |
| 14 | g.100883327C>A | CA390996127 | RTL1 | c.1462G>T (p.Glu488Ter)
| |
| 14 | g.100883327C>G | CA390996125 | RTL1 | c.1462G>C (p.Glu488Gln)
| |
| 14 | g.100883327C>T | CA390996126 | RTL1 | c.1462G>A (p.Glu488Lys)
| gnomAD v4 |
| 14 | g.100883328C>A | CA390996128 | RTL1 | c.1461G>T (p.Gln487His)
| |
| 14 | g.100883328C= | CA2159075060 | RTL1 | c.1461G= (p.Gln487=)
| |
| 14 | g.100883328C>G | CA390996129 | RTL1 | c.1461G>C (p.Gln487His)
| |
| 14 | g.100883328C>T | CA488181961 | RTL1 | c.1461G>A (p.Gln487=)
| dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883329T>A | CA390996130 | RTL1 | c.1460A>T (p.Gln487Leu)
| |
| 14 | g.100883329T>C | CA390996131 | RTL1 | c.1460A>G (p.Gln487Arg)
| |
| 14 | g.100883329T>G | CA390996132 | RTL1 | c.1460A>C (p.Gln487Pro)
| |
| 14 | g.100883330G>A | CA390996133 | RTL1 | c.1459C>T (p.Gln487Ter)
| |
| 14 | g.100883330G>C | CA390996134 | RTL1 | c.1459C>G (p.Gln487Glu)
| |
| 14 | g.100883330G>T | CA390996135 | RTL1 | c.1459C>A (p.Gln487Lys)
| |
| 14 | g.100883331G>A | CA488181968 | RTL1 | c.1458C>T (p.His486=)
| |
| 14 | g.100883331G>C | CA390996136 | RTL1 | c.1458C>G (p.His486Gln)
| |
| 14 | g.100883331G>T | CA390996137 | RTL1 | c.1458C>A (p.His486Gln)
| |
| 14 | g.100883332T>A | CA390996140 | RTL1 | c.1457A>T (p.His486Leu)
| |
| 14 | g.100883332T>C | CA390996139 | RTL1 | c.1457A>G (p.His486Arg)
| |
| 14 | g.100883332T>G | CA390996138 | RTL1 | c.1457A>C (p.His486Pro)
| |
| 14 | g.100883333G>A | CA390996141 | RTL1 | c.1456C>T (p.His486Tyr)
| |
| 14 | g.100883333G>C | CA390996142 | RTL1 | c.1456C>G (p.His486Asp)
| |
| 14 | g.100883333G>T | CA390996143 | RTL1 | c.1456C>A (p.His486Asn)
| |
| 14 | g.100883334G>A | CA266905587 | RTL1 | c.1455C>T (p.Asn485=)
| dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883334G>C | CA390996144 | RTL1 | c.1455C>G (p.Asn485Lys)
| |
| 14 | g.100883334G= | CA2159075061 | RTL1 | c.1455C= (p.Asn485=)
| |
| 14 | g.100883334G>T | CA390996145 | RTL1 | c.1455C>A (p.Asn485Lys)
| |
| 14 | g.100883335T>A | CA390996146 | RTL1 | c.1454A>T (p.Asn485Ile)
| |
| 14 | g.100883335T>C | CA390996147 | RTL1 | c.1454A>G (p.Asn485Ser)
| |
| 14 | g.100883335T>G | CA390996148 | RTL1 | c.1454A>C (p.Asn485Thr)
| |
| 14 | g.100883336T>A | CA390996149 | RTL1 | c.1453A>T (p.Asn485Tyr)
| |
| 14 | g.100883336T>C | CA390996150 | RTL1 | c.1453A>G (p.Asn485Asp)
| |
| 14 | g.100883336T>G | CA390996151 | RTL1 | c.1453A>C (p.Asn485His)
| |
| 14 | g.100883337C>A | CA390996152 | RTL1 | c.1452G>T (p.Gln484His)
| |
| 14 | g.100883337C>G | CA390996153 | RTL1 | c.1452G>C (p.Gln484His)
| |
| 14 | g.100883337C>T | CA488181977 | RTL1 | c.1452G>A (p.Gln484=)
| gnomAD v4 |
| 14 | g.100883338T>A | CA390996155 | RTL1 | c.1451A>T (p.Gln484Leu)
| |
| 14 | g.100883338T>C | CA390996156 | RTL1 | c.1451A>G (p.Gln484Arg)
| |
| 14 | g.100883338T>G | CA390996154 | RTL1 | c.1451A>C (p.Gln484Pro)
| |
| 14 | g.100883339G>A | CA390996157 | RTL1 | c.1450C>T (p.Gln484Ter)
| |
| 14 | g.100883339G>C | CA390996159 | RTL1 | c.1450C>G (p.Gln484Glu)
| |
| 14 | g.100883339G>T | CA390996158 | RTL1 | c.1450C>A (p.Gln484Lys)
| |
| 14 | g.100883340G>A | CA488181981 | RTL1 | c.1449C>T (p.His483=)
| |
| 14 | g.100883340G>C | CA390996160 | RTL1 | c.1449C>G (p.His483Gln)
| |
| 14 | g.100883340G>T | CA390996161 | RTL1 | c.1449C>A (p.His483Gln)
| |
| 14 | g.100883341T>A | CA390996162 | RTL1 | c.1448A>T (p.His483Leu)
| |
| 14 | g.100883341T>C | CA390996163 | RTL1 | c.1448A>G (p.His483Arg)
| |
| 14 | g.100883341T>G | CA390996164 | RTL1 | c.1448A>C (p.His483Pro)
| |
| 14 | g.100883342G>A | CA390996165 | RTL1 | c.1447C>T (p.His483Tyr)
| ClinVar dbSNP gnomAD v4 |
| 14 | g.100883342G>C | CA390996166 | RTL1 | c.1447C>G (p.His483Asp)
| |
| 14 | g.100883342G= | CA2159075062 | RTL1 | c.1447C= (p.His483=)
| |
| 14 | g.100883342G>T | CA390996167 | RTL1 | c.1447C>A (p.His483Asn)
| |
| 14 | g.100883343G>A | CA488181987 | RTL1 | c.1446C>T (p.Ile482=)
| gnomAD v4 |
| 14 | g.100883343G>C | CA390996168 | RTL1 | c.1446C>G (p.Ile482Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883343G= | CA2159075063 | RTL1 | c.1446C= (p.Ile482=)
| |
| 14 | g.100883343G>T | CA266905591 | RTL1 | c.1446C>A (p.Ile482=)
| dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883344A= | CA2159075064 | RTL1 | c.1445T= (p.Ile482=)
| |
| 14 | g.100883344A>C | CA390996170 | RTL1 | c.1445T>G (p.Ile482Ser)
| |
| 14 | g.100883344A>G | CA7347313 | RTL1 | c.1445T>C (p.Ile482Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883344A>T | CA390996169 | RTL1 | c.1445T>A (p.Ile482Asn)
| |
| 14 | g.100883345T>A | CA390996171 | RTL1 | c.1444A>T (p.Ile482Phe)
| |
| 14 | g.100883345T>C | CA390996172 | RTL1 | c.1444A>G (p.Ile482Val)
| |
| 14 | g.100883345T>G | CA390996173 | RTL1 | c.1444A>C (p.Ile482Leu)
| |
| 14 | g.100883346A>C | CA390996174 | RTL1 | c.1443T>G (p.Cys481Trp)
| |
| 14 | g.100883346A>G | CA488181990 | RTL1 | c.1443T>C (p.Cys481=)
| |
| 14 | g.100883346A>T | CA390996175 | RTL1 | c.1443T>A (p.Cys481Ter)
| |
| 14 | g.100883350_100883351del | CA2626553681 | RTL1 | c.1442_1443del (p.Cys481TyrfsTer12)
| gnomAD v4 |
| 14 | g.100883347C>A | CA390996176 | RTL1 | c.1442G>T (p.Cys481Phe)
| |
| 14 | g.100883347C>G | CA390996177 | RTL1 | c.1442G>C (p.Cys481Ser)
| |
| 14 | g.100883347C>T | CA390996178 | RTL1 | c.1442G>A (p.Cys481Tyr)
| |
| 14 | g.100883348A>C | CA390996179 | RTL1 | c.1441T>G (p.Cys481Gly)
| |
| 14 | g.100883348A>G | CA390996180 | RTL1 | c.1441T>C (p.Cys481Arg)
| gnomAD v4 |
| 14 | g.100883348A>T | CA390996181 | RTL1 | c.1441T>A (p.Cys481Ser)
| |
| 14 | g.100883349C>A | CA488181992 | RTL1 | c.1440G>T (p.Val480=)
| dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883349C= | CA2159075065 | RTL1 | c.1440G= (p.Val480=)
| |
| 14 | g.100883349C>G | CA488181993 | RTL1 | c.1440G>C (p.Val480=)
| |
| 14 | g.100883349C>T | CA488181994 | RTL1 | c.1440G>A (p.Val480=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883350A>C | CA390996183 | RTL1 | c.1439T>G (p.Val480Gly)
| |
| 14 | g.100883350A>G | CA390996184 | RTL1 | c.1439T>C (p.Val480Ala)
| |
| 14 | g.100883350A>T | CA390996182 | RTL1 | c.1439T>A (p.Val480Glu)
| |
| 14 | g.100883351C>A | CA390996185 | RTL1 | c.1438G>T (p.Val480Leu)
| |
| 14 | g.100883351C= | CA2159075066 | RTL1 | c.1438G= (p.Val480=)
| |
| 14 | g.100883351C>G | CA390996186 | RTL1 | c.1438G>C (p.Val480Leu)
| |
| 14 | g.100883351C>T | CA390996187 | RTL1 | c.1438G>A (p.Val480Met)
| dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883352C>A | CA488182000 | RTL1 | c.1437G>T (p.Leu479=)
| |
| 14 | g.100883352C= | CA2159075067 | RTL1 | c.1437G= (p.Leu479=)
| |
| 14 | g.100883352C>G | CA488182002 | RTL1 | c.1437G>C (p.Leu479=)
| |
| 14 | g.100883352C>T | CA488182001 | RTL1 | c.1437G>A (p.Leu479=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883353A>C | CA390996188 | RTL1 | c.1436T>G (p.Leu479Arg)
| |
| 14 | g.100883353A>G | CA390996189 | RTL1 | c.1436T>C (p.Leu479Pro)
| gnomAD v4 |
| 14 | g.100883353A>T | CA390996190 | RTL1 | c.1436T>A (p.Leu479Gln)
| |
| 14 | g.100883354G>A | CA488182004 | RTL1 | c.1435C>T (p.Leu479=)
| |
| 14 | g.100883354G>C | CA390996192 | RTL1 | c.1435C>G (p.Leu479Val)
| |
| 14 | g.100883354G>T | CA390996191 | RTL1 | c.1435C>A (p.Leu479Met)
| |
| 14 | g.100883355G>A | CA488181301 | RTL1 | c.1434C>T (p.Pro478=)
| gnomAD v4 |
| 14 | g.100883355G>C | CA488181302 | RTL1 | c.1434C>G (p.Pro478=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883355G= | CA2159075068 | RTL1 | c.1434C= (p.Pro478=)
| |
| 14 | g.100883355G>T | CA488181303 | RTL1 | c.1434C>A (p.Pro478=)
| |
| 14 | g.100883356G>A | CA390996193 | RTL1 | c.1433C>T (p.Pro478Leu)
| gnomAD v4 |
| 14 | g.100883356G>C | CA390996194 | RTL1 | c.1433C>G (p.Pro478Arg)
| |
| 14 | g.100883356G>T | CA390996195 | RTL1 | c.1433C>A (p.Pro478His)
| |
| 14 | g.100883357G>A | CA390996196 | RTL1 | c.1432C>T (p.Pro478Ser)
| gnomAD v4 |
| 14 | g.100883357G>C | CA390996197 | RTL1 | c.1432C>G (p.Pro478Ala)
| |
| 14 | g.100883357G>T | CA390996198 | RTL1 | c.1432C>A (p.Pro478Thr)
| gnomAD v4 |
| 14 | g.100883358C>A | CA266905602 | RTL1 | c.1431G>T (p.Glu477Asp)
| dbSNP gnomAD v4 |
| 14 | g.100883358C= | CA2159075069 | RTL1 | c.1431G= (p.Glu477=)
| |
| 14 | g.100883358C>G | CA390996199 | RTL1 | c.1431G>C (p.Glu477Asp)
| dbSNP |
| 14 | g.100883358C>T | CA7347314 | RTL1 | c.1431G>A (p.Glu477=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.100883359T>A | CA390996200 | RTL1 | c.1430A>T (p.Glu477Val)
| |
| 14 | g.100883359T>C | CA390996201 | RTL1 | c.1430A>G (p.Glu477Gly)
| |
| 14 | g.100883359T>G | CA390996202 | RTL1 | c.1430A>C (p.Glu477Ala)
| |
| 14 | g.100883360C>A | CA390996203 | RTL1 | c.1429G>T (p.Glu477Ter)
| |
| 14 | g.100883360C>G | CA390996204 | RTL1 | c.1429G>C (p.Glu477Gln)
| |
| 14 | g.100883360C>T | CA390996205 | RTL1 | c.1429G>A (p.Glu477Lys)
| |
| 14 | g.100883361C>A | CA488181320 | RTL1 | c.1428G>T (p.Thr476=)
| |
| 14 | g.100883361C>G | CA488181324 | RTL1 | c.1428G>C (p.Thr476=)
| |
| 14 | g.100883361C>T | CA488181325 | RTL1 | c.1428G>A (p.Thr476=)
| gnomAD v4 COSMIC |
| 14 | g.100883362G>A | CA390996206 | RTL1 | c.1427C>T (p.Thr476Met)
| gnomAD v4 COSMIC |
| 14 | g.100883362G>C | CA390996207 | RTL1 | c.1427C>G (p.Thr476Arg)
| |
| 14 | g.100883362G>T | CA390996208 | RTL1 | c.1427C>A (p.Thr476Lys)
| |
| 14 | g.100883363T>A | CA390996209 | RTL1 | c.1426A>T (p.Thr476Ser)
| |
| 14 | g.100883363T>C | CA390996210 | RTL1 | c.1426A>G (p.Thr476Ala)
| dbSNP gnomAD v4 |
| 14 | g.100883363T>G | CA390996211 | RTL1 | c.1426A>C (p.Thr476Pro)
| |
| 14 | g.100883363T= | CA2159075070 | RTL1 | c.1426A= (p.Thr476=)
| |
| 14 | g.100883364G>A | CA488181329 | RTL1 | c.1425C>T (p.Tyr475=)
| |
| 14 | g.100883364G>C | CA390996213 | RTL1 | c.1425C>G (p.Tyr475Ter)
| |
| 14 | g.100883364G>T | CA390996212 | RTL1 | c.1425C>A (p.Tyr475Ter)
| |
| 14 | g.100883365T>A | CA390996214 | RTL1 | c.1424A>T (p.Tyr475Phe)
| |
| 14 | g.100883365T>C | CA390996216 | RTL1 | c.1424A>G (p.Tyr475Cys)
| |
| 14 | g.100883365T>G | CA390996215 | RTL1 | c.1424A>C (p.Tyr475Ser)
| |
| 14 | g.100883366A>C | CA390996217 | RTL1 | c.1423T>G (p.Tyr475Asp)
| |
| 14 | g.100883366A>G | CA390996219 | RTL1 | c.1423T>C (p.Tyr475His)
| |
| 14 | g.100883366A>T | CA390996218 | RTL1 | c.1423T>A (p.Tyr475Asn)
| |
| 14 | g.100883367G>A | CA488181341 | RTL1 | c.1422C>T (p.Leu474=)
| dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883367G>C | CA488181335 | RTL1 | c.1422C>G (p.Leu474=)
| |
| 14 | g.100883367G= | CA2159075071 | RTL1 | c.1422C= (p.Leu474=)
| |
| 14 | g.100883367G>T | CA488181339 | RTL1 | c.1422C>A (p.Leu474=)
| COSMIC |
| 14 | g.100883368A= | CA2159075072 | RTL1 | c.1421T= (p.Leu474=)
| |
| 14 | g.100883368A>C | CA390996220 | RTL1 | c.1421T>G (p.Leu474Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883368A>G | CA390996221 | RTL1 | c.1421T>C (p.Leu474Pro)
| |
| 14 | g.100883368A>T | CA390996222 | RTL1 | c.1421T>A (p.Leu474His)
| |
| 14 | g.100883369G>A | CA390996223 | RTL1 | c.1420C>T (p.Leu474Phe)
| gnomAD v4 |
| 14 | g.100883369G>C | CA390996224 | RTL1 | c.1420C>G (p.Leu474Val)
| |
| 14 | g.100883369G= | CA2159075074 | RTL1 | c.1420C= (p.Leu474=)
| |
| 14 | g.100883369G>T | CA390996225 | RTL1 | c.1420C>A (p.Leu474Ile)
| dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883370C>A | CA390996226 | RTL1 | c.1419G>T (p.Trp473Cys)
| |
| 14 | g.100883370C>G | CA390996227 | RTL1 | c.1419G>C (p.Trp473Cys)
| gnomAD v4 |
| 14 | g.100883370C>T | CA390996228 | RTL1 | c.1419G>A (p.Trp473Ter)
| gnomAD v4 |
| 14 | g.100883371C>A | CA390996229 | RTL1 | c.1418G>T (p.Trp473Leu)
| |
| 14 | g.100883371C>G | CA390996230 | RTL1 | c.1418G>C (p.Trp473Ser)
| ClinVar gnomAD v4 |
| 14 | g.100883371C>T | CA390996231 | RTL1 | c.1418G>A (p.Trp473Ter)
| |
| 14 | g.100883371_100883372delinsCA | CA2159075075 | RTL1 | c.1417_1418delinsTG (p.Trp473=)
| |
| 14 | g.100883372del | CA966590544 | RTL1 | c.1417del (p.Trp473GlyfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883372A>C | CA390996234 | RTL1 | c.1417T>G (p.Trp473Gly)
| |
| 14 | g.100883372A>G | CA390996232 | RTL1 | c.1417T>C (p.Trp473Arg)
| |
| 14 | g.100883372A>T | CA390996233 | RTL1 | c.1417T>A (p.Trp473Arg)
| |
| 14 | g.100883373G>A | CA488181365 | RTL1 | c.1416C>T (p.Val472=)
| dbSNP |
| 14 | g.100883373G>C | CA488181367 | RTL1 | c.1416C>G (p.Val472=)
| |
| 14 | g.100883373G= | CA2159075077 | RTL1 | c.1416C= (p.Val472=)
| |
| 14 | g.100883373G>T | CA488181369 | RTL1 | c.1416C>A (p.Val472=)
| |
| 14 | g.100883374A= | CA2159075078 | RTL1 | c.1415T= (p.Val472=)
| |
| 14 | g.100883374A>C | CA390996235 | RTL1 | c.1415T>G (p.Val472Gly)
| |
| 14 | g.100883374A>G | CA266905622 | RTL1 | c.1415T>C (p.Val472Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883374A>T | CA390996236 | RTL1 | c.1415T>A (p.Val472Asp)
| |
| 14 | g.100883375C>A | CA390996237 | RTL1 | c.1414G>T (p.Val472Phe)
| |
| 14 | g.100883375C>G | CA390996238 | RTL1 | c.1414G>C (p.Val472Leu)
| |
| 14 | g.100883375C>T | CA390996239 | RTL1 | c.1414G>A (p.Val472Ile)
| gnomAD v4 |
| 14 | g.100883376A>C | CA488181376 | RTL1 | c.1413T>G (p.Pro471=)
| |
| 14 | g.100883376A>G | CA488181378 | RTL1 | c.1413T>C (p.Pro471=)
| |
| 14 | g.100883376A>T | CA488181379 | RTL1 | c.1413T>A (p.Pro471=)
| |
| 14 | g.100883377G>A | CA390996240 | RTL1 | c.1412C>T (p.Pro471Leu)
| dbSNP |
| 14 | g.100883377G>C | CA390996241 | RTL1 | c.1412C>G (p.Pro471Arg)
| |
| 14 | g.100883377G= | CA2159075080 | RTL1 | c.1412C= (p.Pro471=)
| |
| 14 | g.100883377G>T | CA390996242 | RTL1 | c.1412C>A (p.Pro471His)
| |
| 14 | g.100883378G>A | CA7347315 | RTL1 | c.1411C>T (p.Pro471Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883378G>C | CA390996243 | RTL1 | c.1411C>G (p.Pro471Ala)
| dbSNP |
| 14 | g.100883378G= | CA2159075082 | RTL1 | c.1411C= (p.Pro471=)
| |
| 14 | g.100883378G>T | CA390996244 | RTL1 | c.1411C>A (p.Pro471Thr)
| |
| 14 | g.100883379C>A | CA390996245 | RTL1 | c.1410G>T (p.Glu470Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883379C= | CA2159075084 | RTL1 | c.1410G= (p.Glu470=)
| |
| 14 | g.100883379C>G | CA390996246 | RTL1 | c.1410G>C (p.Glu470Asp)
| |
| 14 | g.100883379C>T | CA488181390 | RTL1 | c.1410G>A (p.Glu470=)
| gnomAD v4 |
| 14 | g.100883380T>A | CA390996247 | RTL1 | c.1409A>T (p.Glu470Val)
| |
| 14 | g.100883380T>C | CA390996248 | RTL1 | c.1409A>G (p.Glu470Gly)
| gnomAD v4 |
| 14 | g.100883380T>G | CA390996249 | RTL1 | c.1409A>C (p.Glu470Ala)
| |
| 14 | g.100883381C>A | CA390996250 | RTL1 | c.1408G>T (p.Glu470Ter)
| dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883381C= | CA2159075086 | RTL1 | c.1408G= (p.Glu470=)
| |
| 14 | g.100883381C>G | CA390996251 | RTL1 | c.1408G>C (p.Glu470Gln)
| gnomAD v4 |
| 14 | g.100883381C>T | CA266905633 | RTL1 | c.1408G>A (p.Glu470Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883382G>A | CA7347316 | RTL1 | c.1407C>T (p.Asn469=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.100883382G>C | CA390996252 | RTL1 | c.1407C>G (p.Asn469Lys)
| gnomAD v4 |
| 14 | g.100883382G= | CA2159075089 | RTL1 | c.1407C= (p.Asn469=)
| |
| 14 | g.100883382G>T | CA390996253 | RTL1 | c.1407C>A (p.Asn469Lys)
| dbSNP |
| 14 | g.100883383T>A | CA390996254 | RTL1 | c.1406A>T (p.Asn469Ile)
| |
| 14 | g.100883383T>C | CA390996255 | RTL1 | c.1406A>G (p.Asn469Ser)
| |
| 14 | g.100883383T>G | CA390996256 | RTL1 | c.1406A>C (p.Asn469Thr)
| |
| 14 | g.100883384T>A | CA390996258 | RTL1 | c.1405A>T (p.Asn469Tyr)
| |
| 14 | g.100883384T>C | CA390996259 | RTL1 | c.1405A>G (p.Asn469Asp)
| |
| 14 | g.100883384T>G | CA390996257 | RTL1 | c.1405A>C (p.Asn469His)
| |
