| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.5641187C>A | CA366710424 | RNF216 | c.2349G>T (p.Glu783Asp) c.*1466G>T (n.*1466G>T) c.2178G>T (p.Glu726Asp) n.566G>T c.1044G>T (p.Glu348Asp) | |
| 7 | g.5641187C>G | CA366710429 | RNF216 | c.2349G>C (p.Glu783Asp) c.*1466G>C (n.*1466G>C) c.2178G>C (p.Glu726Asp) n.566G>C c.1044G>C (p.Glu348Asp) | |
| 7 | g.5641187C>T | CA453640028 | RNF216 | c.2349G>A (p.Glu783=) c.*1466G>A (n.*1466G>A) c.2178G>A (p.Glu726=) n.566G>A c.1044G>A (p.Glu348=) | |
| 7 | g.5641188T>A | CA366710433 | RNF216 | c.2348A>T (p.Glu783Val) c.*1465A>T (n.*1465A>T) c.2177A>T (p.Glu726Val) n.565A>T c.1043A>T (p.Glu348Val) | |
| 7 | g.5641188T>C | CA366710435 | RNF216 | c.2348A>G (p.Glu783Gly) c.*1465A>G (n.*1465A>G) c.2177A>G (p.Glu726Gly) n.565A>G c.1043A>G (p.Glu348Gly) | gnomAD v4 |
| 7 | g.5641188T>G | CA366710440 | RNF216 | c.2348A>C (p.Glu783Ala) c.*1465A>C (n.*1465A>C) c.2177A>C (p.Glu726Ala) n.565A>C c.1043A>C (p.Glu348Ala) | gnomAD v4 |
| 7 | g.5641189C>A | CA366710451 | RNF216 | c.2347G>T (p.Glu783Ter) c.*1464G>T (n.*1464G>T) c.2176G>T (p.Glu726Ter) n.564G>T c.1042G>T (p.Glu348Ter) | |
| 7 | g.5641189C= | CA1685037881 | RNF216 | c.2347G= (p.Glu783=) c.*1464G= (n.*1464G=) c.2176G= (p.Glu726=) n.564G= c.1042G= (p.Glu348=) | |
| 7 | g.5641189C>G | CA4147845 | RNF216 | c.2347G>C (p.Glu783Gln) c.*1464G>C (n.*1464G>C) c.2176G>C (p.Glu726Gln) n.564G>C c.1042G>C (p.Glu348Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.5641189C>T | CA366710459 | RNF216 | c.2347G>A (p.Glu783Lys) c.*1464G>A (n.*1464G>A) c.2176G>A (p.Glu726Lys) n.564G>A c.1042G>A (p.Glu348Lys) | |
| 7 | g.5641190C>A | CA366710469 | RNF216 | c.2346G>T (p.Gln782His) c.*1463G>T (n.*1463G>T) c.2175G>T (p.Gln725His) n.563G>T c.1041G>T (p.Gln347His) | |
| 7 | g.5641190C>G | CA366710473 | RNF216 | c.2346G>C (p.Gln782His) c.*1463G>C (n.*1463G>C) c.2175G>C (p.Gln725His) n.563G>C c.1041G>C (p.Gln347His) | |
| 7 | g.5641190C>T | CA453640033 | RNF216 | c.2346G>A (p.Gln782=) c.*1463G>A (n.*1463G>A) c.2175G>A (p.Gln725=) n.563G>A c.1041G>A (p.Gln347=) | gnomAD v4 |
| 7 | g.5641191T>A | CA366710477 | RNF216 | c.2345A>T (p.Gln782Leu) c.*1462A>T (n.*1462A>T) c.2174A>T (p.Gln725Leu) n.562A>T c.1040A>T (p.Gln347Leu) | |
| 7 | g.5641191T>C | CA366710480 | RNF216 | c.2345A>G (p.Gln782Arg) c.*1462A>G (n.*1462A>G) c.2174A>G (p.Gln725Arg) n.562A>G c.1040A>G (p.Gln347Arg) | dbSNP |
| 7 | g.5641191T>G | CA366710483 | RNF216 | c.2345A>C (p.Gln782Pro) c.*1462A>C (n.*1462A>C) c.2174A>C (p.Gln725Pro) n.562A>C c.1040A>C (p.Gln347Pro) | |
| 7 | g.5641191T= | CA1685037883 | RNF216 | c.2345A= (p.Gln782=) c.*1462A= (n.*1462A=) c.2174A= (p.Gln725=) n.562A= c.1040A= (p.Gln347=) | |
| 7 | g.5641192G>A | CA366710488 | RNF216 | c.2344C>T (p.Gln782Ter) c.*1461C>T (n.*1461C>T) c.2173C>T (p.Gln725Ter) n.561C>T c.1039C>T (p.Gln347Ter) | gnomAD v4 |
| 7 | g.5641192G>C | CA366710489 | RNF216 | c.2344C>G (p.Gln782Glu) c.*1461C>G (n.*1461C>G) c.2173C>G (p.Gln725Glu) n.561C>G c.1039C>G (p.Gln347Glu) | |
| 7 | g.5641192G>T | CA366710486 | RNF216 | c.2344C>A (p.Gln782Lys) c.*1461C>A (n.*1461C>A) c.2173C>A (p.Gln725Lys) n.561C>A c.1039C>A (p.Gln347Lys) | |
| 7 | g.5641193G>A | CA453640039 | RNF216 | c.2343C>T (p.Cys781=) c.*1460C>T (n.*1460C>T) c.2172C>T (p.Cys724=) n.560C>T c.1038C>T (p.Cys346=) | gnomAD v4 |
| 7 | g.5641193G>C | CA153208307 | RNF216 | c.2343C>G (p.Cys781Trp) c.*1460C>G (n.*1460C>G) c.2172C>G (p.Cys724Trp) n.560C>G c.1038C>G (p.Cys346Trp) | dbSNP |
| 7 | g.5641193G= | CA1685037886 | RNF216 | c.2343C= (p.Cys781=) c.*1460C= (n.*1460C=) c.2172C= (p.Cys724=) n.560C= c.1038C= (p.Cys346=) | |
| 7 | g.5641193G>T | CA366710491 | RNF216 | c.2343C>A (p.Cys781Ter) c.*1460C>A (n.*1460C>A) c.2172C>A (p.Cys724Ter) n.560C>A c.1038C>A (p.Cys346Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.5641194C>A | CA366710497 | RNF216 | c.2342G>T (p.Cys781Phe) c.*1459G>T (n.*1459G>T) c.2171G>T (p.Cys724Phe) n.559G>T c.1037G>T (p.Cys346Phe) | |
| 7 | g.5641194C>G | CA366710506 | RNF216 | c.2342G>C (p.Cys781Ser) c.*1459G>C (n.*1459G>C) c.2171G>C (p.Cys724Ser) n.559G>C c.1037G>C (p.Cys346Ser) | |
| 7 | g.5641194C>T | CA366710501 | RNF216 | c.2342G>A (p.Cys781Tyr) c.*1459G>A (n.*1459G>A) c.2171G>A (p.Cys724Tyr) n.559G>A c.1037G>A (p.Cys346Tyr) | |
| 7 | g.5641195A>C | CA366710509 | RNF216 | c.2341T>G (p.Cys781Gly) c.*1458T>G (n.*1458T>G) c.2170T>G (p.Cys724Gly) n.558T>G c.1036T>G (p.Cys346Gly) | |
| 7 | g.5641195A>G | CA366710511 | RNF216 | c.2341T>C (p.Cys781Arg) c.*1458T>C (n.*1458T>C) c.2170T>C (p.Cys724Arg) n.558T>C c.1036T>C (p.Cys346Arg) | |
| 7 | g.5641195A>T | CA366710514 | RNF216 | c.2341T>A (p.Cys781Ser) c.*1458T>A (n.*1458T>A) c.2170T>A (p.Cys724Ser) n.558T>A c.1036T>A (p.Cys346Ser) | |
| 7 | g.5641196del | CA2578822605 | RNF216 | c.2341del (p.Cys781AlafsTer?) c.*1458del (n.*1458del) c.2170del (p.Cys724AlafsTer?) n.558del c.1036del (p.Cys346AlafsTer?) | |
| 7 | g.5641195_5641208dup | CA2681658198 | RNF216 | c.2328_2341dup (p.Cys781TyrfsTer?) c.*1445_*1458dup (n.*1445_*1458dup) c.2157_2170dup (p.Cys724TyrfsTer?) n.545_558dup c.1023_1036dup (p.Cys346TyrfsTer?) | gnomAD v4 |
| 7 | g.5641196A>C | CA453640045 | RNF216 | c.2340T>G (p.Pro780=) c.*1457T>G (n.*1457T>G) c.2169T>G (p.Pro723=) n.557T>G c.1035T>G (p.Pro345=) | |
| 7 | g.5641196A>G | CA453640044 | RNF216 | c.2340T>C (p.Pro780=) c.*1457T>C (n.*1457T>C) c.2169T>C (p.Pro723=) n.557T>C c.1035T>C (p.Pro345=) | |
| 7 | g.5641196A>T | CA453640043 | RNF216 | c.2340T>A (p.Pro780=) c.*1457T>A (n.*1457T>A) c.2169T>A (p.Pro723=) n.557T>A c.1035T>A (p.Pro345=) | |
| 7 | g.5641197G>A | CA4147846 | RNF216 | c.2339C>T (p.Pro780Leu) c.*1456C>T (n.*1456C>T) c.2168C>T (p.Pro723Leu) n.556C>T c.1034C>T (p.Pro345Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.5641197G>C | CA366710521 | RNF216 | c.2339C>G (p.Pro780Arg) c.*1456C>G (n.*1456C>G) c.2168C>G (p.Pro723Arg) n.556C>G c.1034C>G (p.Pro345Arg) | |
| 7 | g.5641197G= | CA1685037892 | RNF216 | c.2339C= (p.Pro780=) c.*1456C= (n.*1456C=) c.2168C= (p.Pro723=) n.556C= c.1034C= (p.Pro345=) | |
| 7 | g.5641197G>T | CA366710528 | RNF216 | c.2339C>A (p.Pro780His) c.*1456C>A (n.*1456C>A) c.2168C>A (p.Pro723His) n.556C>A c.1034C>A (p.Pro345His) | |
| 7 | g.5641198G>A | CA153208311 | RNF216 | c.2338C>T (p.Pro780Ser) c.*1455C>T (n.*1455C>T) c.2167C>T (p.Pro723Ser) n.555C>T c.1033C>T (p.Pro345Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.5641198G>C | CA366710535 | RNF216 | c.2338C>G (p.Pro780Ala) c.*1455C>G (n.*1455C>G) c.2167C>G (p.Pro723Ala) n.555C>G c.1033C>G (p.Pro345Ala) | dbSNP |
| 7 | g.5641198G= | CA1685037897 | RNF216 | c.2338C= (p.Pro780=) c.*1455C= (n.*1455C=) c.2167C= (p.Pro723=) n.555C= c.1033C= (p.Pro345=) | |
| 7 | g.5641198G>T | CA366710539 | RNF216 | c.2338C>A (p.Pro780Thr) c.*1455C>A (n.*1455C>A) c.2167C>A (p.Pro723Thr) n.555C>A c.1033C>A (p.Pro345Thr) | |
| 7 | g.5641199G>A | CA453640049 | RNF216 | c.2337C>T (p.Ala779=) c.*1454C>T (n.*1454C>T) c.2166C>T (p.Ala722=) n.554C>T c.1032C>T (p.Ala344=) | gnomAD v4 |
| 7 | g.5641199G>C | CA453640053 | RNF216 | c.2337C>G (p.Ala779=) c.*1454C>G (n.*1454C>G) c.2166C>G (p.Ala722=) n.554C>G c.1032C>G (p.Ala344=) | |
| 7 | g.5641199G>T | CA453640050 | RNF216 | c.2337C>A (p.Ala779=) c.*1454C>A (n.*1454C>A) c.2166C>A (p.Ala722=) n.554C>A c.1032C>A (p.Ala344=) | |
| 7 | g.5641200G>A | CA366710543 | RNF216 | c.2336C>T (p.Ala779Val) c.*1453C>T (n.*1453C>T) c.2165C>T (p.Ala722Val) n.553C>T c.1031C>T (p.Ala344Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.5641200G>C | CA366710547 | RNF216 | c.2336C>G (p.Ala779Gly) c.*1453C>G (n.*1453C>G) c.2165C>G (p.Ala722Gly) n.553C>G c.1031C>G (p.Ala344Gly) | |
| 7 | g.5641200G= | CA1685037900 | RNF216 | c.2336C= (p.Ala779=) c.*1453C= (n.*1453C=) c.2165C= (p.Ala722=) n.553C= c.1031C= (p.Ala344=) | |
| 7 | g.5641200G>T | CA366710551 | RNF216 | c.2336C>A (p.Ala779Asp) c.*1453C>A (n.*1453C>A) c.2165C>A (p.Ala722Asp) n.553C>A c.1031C>A (p.Ala344Asp) | |
| 7 | g.5641201C>A | CA366710557 | RNF216 | c.2335G>T (p.Ala779Ser) c.*1452G>T (n.*1452G>T) c.2164G>T (p.Ala722Ser) n.552G>T c.1030G>T (p.Ala344Ser) | dbSNP |
| 7 | g.5641201C= | CA1685037906 | RNF216 | c.2335G= (p.Ala779=) c.*1452G= (n.*1452G=) c.2164G= (p.Ala722=) n.552G= c.1030G= (p.Ala344=) | |
| 7 | g.5641201C>G | CA366710569 | RNF216 | c.2335G>C (p.Ala779Pro) c.*1452G>C (n.*1452G>C) c.2164G>C (p.Ala722Pro) n.552G>C c.1030G>C (p.Ala344Pro) | |
| 7 | g.5641201C>T | CA366710564 | RNF216 | c.2335G>A (p.Ala779Thr) c.*1452G>A (n.*1452G>A) c.2164G>A (p.Ala722Thr) n.552G>A c.1030G>A (p.Ala344Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.5641202T>A | CA453640163 | RNF216 | c.2334A>T (p.Gly778=) c.*1451A>T (n.*1451A>T) c.2163A>T (p.Gly721=) n.551A>T c.1029A>T (p.Gly343=) | gnomAD v4 |
| 7 | g.5641202T>C | CA453640164 | RNF216 | c.2334A>G (p.Gly778=) c.*1451A>G (n.*1451A>G) c.2163A>G (p.Gly721=) n.551A>G c.1029A>G (p.Gly343=) | |
| 7 | g.5641202T>G | CA4147847 | RNF216 | c.2334A>C (p.Gly778=) c.*1451A>C (n.*1451A>C) c.2163A>C (p.Gly721=) n.551A>C c.1029A>C (p.Gly343=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.5641202T= | CA1685037909 | RNF216 | c.2334A= (p.Gly778=) c.*1451A= (n.*1451A=) c.2163A= (p.Gly721=) n.551A= c.1029A= (p.Gly343=) | |
| 7 | g.5641203C>A | CA366710587 | RNF216 | c.2333G>T (p.Gly778Val) c.*1450G>T (n.*1450G>T) c.2162G>T (p.Gly721Val) n.550G>T c.1028G>T (p.Gly343Val) | |
| 7 | g.5641203C>G | CA366710591 | RNF216 | c.2333G>C (p.Gly778Ala) c.*1450G>C (n.*1450G>C) c.2162G>C (p.Gly721Ala) n.550G>C c.1028G>C (p.Gly343Ala) | |
| 7 | g.5641203C>T | CA366710596 | RNF216 | c.2333G>A (p.Gly778Glu) c.*1450G>A (n.*1450G>A) c.2162G>A (p.Gly721Glu) n.550G>A c.1028G>A (p.Gly343Glu) | |
| 7 | g.5641204C>A | CA366710603 | RNF216 | c.2332G>T (p.Gly778Ter) c.*1449G>T (n.*1449G>T) c.2161G>T (p.Gly721Ter) n.549G>T c.1027G>T (p.Gly343Ter) | |
| 7 | g.5641204C>G | CA366710607 | RNF216 | c.2332G>C (p.Gly778Arg) c.*1449G>C (n.*1449G>C) c.2161G>C (p.Gly721Arg) n.549G>C c.1027G>C (p.Gly343Arg) | |
| 7 | g.5641204C>T | CA366710612 | RNF216 | c.2332G>A (p.Gly778Arg) c.*1449G>A (n.*1449G>A) c.2161G>A (p.Gly721Arg) n.549G>A c.1027G>A (p.Gly343Arg) | |
| 7 | g.5641205T>A | CA453640168 | RNF216 | c.2331A>T (p.Pro777=) c.*1448A>T (n.*1448A>T) c.2160A>T (p.Pro720=) n.548A>T c.1026A>T (p.Pro342=) | |
| 7 | g.5641205T>C | CA153208314 | RNF216 | c.2331A>G (p.Pro777=) c.*1448A>G (n.*1448A>G) c.2160A>G (p.Pro720=) n.548A>G c.1026A>G (p.Pro342=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.5641205T>G | CA453640170 | RNF216 | c.2331A>C (p.Pro777=) c.*1448A>C (n.*1448A>C) c.2160A>C (p.Pro720=) n.548A>C c.1026A>C (p.Pro342=) | |
| 7 | g.5641205T= | CA1685037914 | RNF216 | c.2331A= (p.Pro777=) c.*1448A= (n.*1448A=) c.2160A= (p.Pro720=) n.548A= c.1026A= (p.Pro342=) | |
| 7 | g.5641206G>A | CA366710618 | RNF216 | c.2330C>T (p.Pro777Leu) c.*1447C>T (n.*1447C>T) c.2159C>T (p.Pro720Leu) n.547C>T c.1025C>T (p.Pro342Leu) | |
| 7 | g.5641206G>C | CA366710620 | RNF216 | c.2330C>G (p.Pro777Arg) c.*1447C>G (n.*1447C>G) c.2159C>G (p.Pro720Arg) n.547C>G c.1025C>G (p.Pro342Arg) | |
| 7 | g.5641206G>T | CA366710623 | RNF216 | c.2330C>A (p.Pro777Gln) c.*1447C>A (n.*1447C>A) c.2159C>A (p.Pro720Gln) n.547C>A c.1025C>A (p.Pro342Gln) | |
| 7 | g.5641207G>A | CA366710636 | RNF216 | c.2329C>T (p.Pro777Ser) c.*1446C>T (n.*1446C>T) c.2158C>T (p.Pro720Ser) n.546C>T c.1024C>T (p.Pro342Ser) | |
| 7 | g.5641207G>C | CA4147848 | RNF216 | c.2329C>G (p.Pro777Ala) c.*1446C>G (n.*1446C>G) c.2158C>G (p.Pro720Ala) n.546C>G c.1024C>G (p.Pro342Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.5641207G= | CA1685037917 | RNF216 | c.2329C= (p.Pro777=) c.*1446C= (n.*1446C=) c.2158C= (p.Pro720=) n.546C= c.1024C= (p.Pro342=) | |
| 7 | g.5641207G>T | CA366710628 | RNF216 | c.2329C>A (p.Pro777Thr) c.*1446C>A (n.*1446C>A) c.2158C>A (p.Pro720Thr) n.546C>A c.1024C>A (p.Pro342Thr) | |
| 7 | g.5641208T>A | CA453640174 | RNF216 | c.2328A>T (p.Ser776=) c.*1445A>T (n.*1445A>T) c.2157A>T (p.Ser719=) n.545A>T c.1023A>T (p.Ser341=) | gnomAD v4 |
| 7 | g.5641208T>C | CA453640175 | RNF216 | c.2328A>G (p.Ser776=) c.*1445A>G (n.*1445A>G) c.2157A>G (p.Ser719=) n.545A>G c.1023A>G (p.Ser341=) | gnomAD v4 |
| 7 | g.5641208T>G | CA453640177 | RNF216 | c.2328A>C (p.Ser776=) c.*1445A>C (n.*1445A>C) c.2157A>C (p.Ser719=) n.545A>C c.1023A>C (p.Ser341=) | |
| 7 | g.5641209G>A | CA366710638 | RNF216 | c.2327C>T (p.Ser776Leu) c.*1444C>T (n.*1444C>T) c.2156C>T (p.Ser719Leu) n.544C>T c.1022C>T (p.Ser341Leu) | |
| 7 | g.5641209G>C | CA366710640 | RNF216 | c.2327C>G (p.Ser776Ter) c.*1444C>G (n.*1444C>G) c.2156C>G (p.Ser719Ter) n.544C>G c.1022C>G (p.Ser341Ter) | |
| 7 | g.5641209G>T | CA366710643 | RNF216 | c.2327C>A (p.Ser776Ter) c.*1444C>A (n.*1444C>A) c.2156C>A (p.Ser719Ter) n.544C>A c.1022C>A (p.Ser341Ter) | |
| 7 | g.5641210A>C | CA366710648 | RNF216 | c.2326T>G (p.Ser776Ala) c.*1443T>G (n.*1443T>G) c.2155T>G (p.Ser719Ala) n.543T>G c.1021T>G (p.Ser341Ala) | |
| 7 | g.5641210A>G | CA366710653 | RNF216 | c.2326T>C (p.Ser776Pro) c.*1443T>C (n.*1443T>C) c.2155T>C (p.Ser719Pro) n.543T>C c.1021T>C (p.Ser341Pro) | |
| 7 | g.5641210A>T | CA366710663 | RNF216 | c.2326T>A (p.Ser776Thr) c.*1443T>A (n.*1443T>A) c.2155T>A (p.Ser719Thr) n.543T>A c.1021T>A (p.Ser341Thr) | COSMIC |
| 7 | g.5641211G>A | CA453640179 | RNF216 | c.2325C>T (p.Arg775=) c.*1442C>T (n.*1442C>T) c.2154C>T (p.Arg718=) n.542C>T c.1020C>T (p.Arg340=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.5641211G>C | CA453640180 | RNF216 | c.2325C>G (p.Arg775=) c.*1442C>G (n.*1442C>G) c.2154C>G (p.Arg718=) n.542C>G c.1020C>G (p.Arg340=) | |
| 7 | g.5641211G= | CA1685037919 | RNF216 | c.2325C= (p.Arg775=) c.*1442C= (n.*1442C=) c.2154C= (p.Arg718=) n.542C= c.1020C= (p.Arg340=) | |
| 7 | g.5641211G>T | CA453640181 | RNF216 | c.2325C>A (p.Arg775=) c.*1442C>A (n.*1442C>A) c.2154C>A (p.Arg718=) n.542C>A c.1020C>A (p.Arg340=) | |
| 7 | g.5641212C>A | CA366710672 | RNF216 | c.2324G>T (p.Arg775Leu) c.*1441G>T (n.*1441G>T) c.2153G>T (p.Arg718Leu) n.541G>T c.1019G>T (p.Arg340Leu) | |
| 7 | g.5641212C>G | CA366710668 | RNF216 | c.2324G>C (p.Arg775Pro) c.*1441G>C (n.*1441G>C) c.2153G>C (p.Arg718Pro) n.541G>C c.1019G>C (p.Arg340Pro) | |
| 7 | g.5641212C>T | CA366710670 | RNF216 | c.2324G>A (p.Arg775His) c.*1441G>A (n.*1441G>A) c.2153G>A (p.Arg718His) n.541G>A c.1019G>A (p.Arg340His) | gnomAD v4 |
| 7 | g.5641213G>A | CA366710676 | RNF216 | c.2323C>T (p.Arg775Cys) c.*1440C>T (n.*1440C>T) c.2152C>T (p.Arg718Cys) n.540C>T c.1018C>T (p.Arg340Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.5641213G>C | CA366710680 | RNF216 | c.2323C>G (p.Arg775Gly) c.*1440C>G (n.*1440C>G) c.2152C>G (p.Arg718Gly) n.540C>G c.1018C>G (p.Arg340Gly) | |
| 7 | g.5641213G= | CA1685037921 | RNF216 | c.2323C= (p.Arg775=) c.*1440C= (n.*1440C=) c.2152C= (p.Arg718=) n.540C= c.1018C= (p.Arg340=) | |
| 7 | g.5641213G>T | CA366710683 | RNF216 | c.2323C>A (p.Arg775Ser) c.*1440C>A (n.*1440C>A) c.2152C>A (p.Arg718Ser) n.540C>A c.1018C>A (p.Arg340Ser) | |
| 7 | g.5641214G>A | CA453640184 | RNF216 | c.2322C>T (p.Pro774=) c.*1439C>T (n.*1439C>T) c.2151C>T (p.Pro717=) n.539C>T c.1017C>T (p.Pro339=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.5641214G>C | CA4147849 | RNF216 | c.2322C>G (p.Pro774=) c.*1439C>G (n.*1439C>G) c.2151C>G (p.Pro717=) n.539C>G c.1017C>G (p.Pro339=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.5641214G= | CA1685037924 | RNF216 | c.2322C= (p.Pro774=) c.*1439C= (n.*1439C=) c.2151C= (p.Pro717=) n.539C= c.1017C= (p.Pro339=) | |
| 7 | g.5641214G>T | CA4147850 | RNF216 | c.2322C>A (p.Pro774=) c.*1439C>A (n.*1439C>A) c.2151C>A (p.Pro717=) n.539C>A c.1017C>A (p.Pro339=) | dbSNP ExAC gnomAD v2 |
| 7 | g.5641215G>A | CA366710687 | RNF216 | c.2321C>T (p.Pro774Leu) c.*1438C>T (n.*1438C>T) c.2150C>T (p.Pro717Leu) n.538C>T c.1016C>T (p.Pro339Leu) | dbSNP |
| 7 | g.5641215G>C | CA366710698 | RNF216 | c.2321C>G (p.Pro774Arg) c.*1438C>G (n.*1438C>G) c.2150C>G (p.Pro717Arg) n.538C>G c.1016C>G (p.Pro339Arg) | |
| 7 | g.5641215G= | CA1685037928 | RNF216 | c.2321C= (p.Pro774=) c.*1438C= (n.*1438C=) c.2150C= (p.Pro717=) n.538C= c.1016C= (p.Pro339=) | |
| 7 | g.5641215G>T | CA366710691 | RNF216 | c.2321C>A (p.Pro774His) c.*1438C>A (n.*1438C>A) c.2150C>A (p.Pro717His) n.538C>A c.1016C>A (p.Pro339His) | |
| 7 | g.5641216G>A | CA366710702 | RNF216 | c.2320C>T (p.Pro774Ser) c.*1437C>T (n.*1437C>T) c.2149C>T (p.Pro717Ser) n.537C>T c.1015C>T (p.Pro339Ser) | |
| 7 | g.5641216G>C | CA366710708 | RNF216 | c.2320C>G (p.Pro774Ala) c.*1437C>G (n.*1437C>G) c.2149C>G (p.Pro717Ala) n.537C>G c.1015C>G (p.Pro339Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.5641216G= | CA1685037931 | RNF216 | c.2320C= (p.Pro774=) c.*1437C= (n.*1437C=) c.2149C= (p.Pro717=) n.537C= c.1015C= (p.Pro339=) | |
| 7 | g.5641216G>T | CA366710712 | RNF216 | c.2320C>A (p.Pro774Thr) c.*1437C>A (n.*1437C>A) c.2149C>A (p.Pro717Thr) n.537C>A c.1015C>A (p.Pro339Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.5641217A>C | CA366710713 | RNF216 | c.2319T>G (p.His773Gln) c.*1436T>G (n.*1436T>G) c.2148T>G (p.His716Gln) n.536T>G c.1014T>G (p.His338Gln) | |
| 7 | g.5641217A>G | CA453640187 | RNF216 | c.2319T>C (p.His773=) c.*1436T>C (n.*1436T>C) c.2148T>C (p.His716=) n.536T>C c.1014T>C (p.His338=) | |
| 7 | g.5641217A>T | CA366710716 | RNF216 | c.2319T>A (p.His773Gln) c.*1436T>A (n.*1436T>A) c.2148T>A (p.His716Gln) n.536T>A c.1014T>A (p.His338Gln) | |
| 7 | g.5641218T>A | CA366710719 | RNF216 | c.2318A>T (p.His773Leu) c.*1435A>T (n.*1435A>T) c.2147A>T (p.His716Leu) n.535A>T c.1013A>T (p.His338Leu) | |
| 7 | g.5641218T>C | CA366710720 | RNF216 | c.2318A>G (p.His773Arg) c.*1435A>G (n.*1435A>G) c.2147A>G (p.His716Arg) n.535A>G c.1013A>G (p.His338Arg) | dbSNP |
| 7 | g.5641218T>G | CA366710722 | RNF216 | c.2318A>C (p.His773Pro) c.*1435A>C (n.*1435A>C) c.2147A>C (p.His716Pro) n.535A>C c.1013A>C (p.His338Pro) | |
| 7 | g.5641218T= | CA1685037934 | RNF216 | c.2318A= (p.His773=) c.*1435A= (n.*1435A=) c.2147A= (p.His716=) n.535A= c.1013A= (p.His338=) | |
| 7 | g.5641219G>A | CA366710724 | RNF216 | c.2317C>T (p.His773Tyr) c.*1434C>T (n.*1434C>T) c.2146C>T (p.His716Tyr) n.534C>T c.1012C>T (p.His338Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.5641219G>C | CA366710725 | RNF216 | c.2317C>G (p.His773Asp) c.*1434C>G (n.*1434C>G) c.2146C>G (p.His716Asp) n.534C>G c.1012C>G (p.His338Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.5641219G= | CA1685037936 | RNF216 | c.2317C= (p.His773=) c.*1434C= (n.*1434C=) c.2146C= (p.His716=) n.534C= c.1012C= (p.His338=) | |
| 7 | g.5641219G>T | CA366710726 | RNF216 | c.2317C>A (p.His773Asn) c.*1434C>A (n.*1434C>A) c.2146C>A (p.His716Asn) n.534C>A c.1012C>A (p.His338Asn) | |
| 7 | g.5641220T>A | CA366710743 | RNF216 | c.2316A>T (p.Gln772His) c.*1433A>T (n.*1433A>T) c.2145A>T (p.Gln715His) n.533A>T c.1011A>T (p.Gln337His) | COSMIC |
| 7 | g.5641220T>C | CA4147851 | RNF216 | c.2316A>G (p.Gln772=) c.*1433A>G (n.*1433A>G) c.2145A>G (p.Gln715=) n.533A>G c.1011A>G (p.Gln337=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.5641220T>G | CA366710729 | RNF216 | c.2316A>C (p.Gln772His) c.*1433A>C (n.*1433A>C) c.2145A>C (p.Gln715His) n.533A>C c.1011A>C (p.Gln337His) | |
| 7 | g.5641220T= | CA1685037940 | RNF216 | c.2316A= (p.Gln772=) c.*1433A= (n.*1433A=) c.2145A= (p.Gln715=) n.533A= c.1011A= (p.Gln337=) | |
| 7 | g.5641221T>A | CA366710746 | RNF216 | c.2315A>T (p.Gln772Leu) c.*1432A>T (n.*1432A>T) c.2144A>T (p.Gln715Leu) n.532A>T c.1010A>T (p.Gln337Leu) | |
| 7 | g.5641221T>C | CA366710748 | RNF216 | c.2315A>G (p.Gln772Arg) c.*1432A>G (n.*1432A>G) c.2144A>G (p.Gln715Arg) n.532A>G c.1010A>G (p.Gln337Arg) | gnomAD v4 |
| 7 | g.5641221T>G | CA366710747 | RNF216 | c.2315A>C (p.Gln772Pro) c.*1432A>C (n.*1432A>C) c.2144A>C (p.Gln715Pro) n.532A>C c.1010A>C (p.Gln337Pro) | |
| 7 | g.5641222G>A | CA366710751 | RNF216 | c.2314C>T (p.Gln772Ter) c.*1431C>T (n.*1431C>T) c.2143C>T (p.Gln715Ter) n.531C>T c.1009C>T (p.Gln337Ter) | |
| 7 | g.5641222G>C | CA366710755 | RNF216 | c.2314C>G (p.Gln772Glu) c.*1431C>G (n.*1431C>G) c.2143C>G (p.Gln715Glu) n.531C>G c.1009C>G (p.Gln337Glu) | |
| 7 | g.5641222G>T | CA366710759 | RNF216 | c.2314C>A (p.Gln772Lys) c.*1431C>A (n.*1431C>A) c.2143C>A (p.Gln715Lys) n.531C>A c.1009C>A (p.Gln337Lys) | |
| 7 | g.5641223G>A | CA453640191 | RNF216 | c.2313C>T (p.Cys771=) c.*1430C>T (n.*1430C>T) c.2142C>T (p.Cys714=) n.530C>T c.1008C>T (p.Cys336=) | COSMIC |
| 7 | g.5641223G>C | CA366710764 | RNF216 | c.2313C>G (p.Cys771Trp) c.*1430C>G (n.*1430C>G) c.2142C>G (p.Cys714Trp) n.530C>G c.1008C>G (p.Cys336Trp) | |
| 7 | g.5641223G>T | CA366710765 | RNF216 | c.2313C>A (p.Cys771Ter) c.*1430C>A (n.*1430C>A) c.2142C>A (p.Cys714Ter) n.530C>A c.1008C>A (p.Cys336Ter) | |
| 7 | g.5641224C>A | CA366710769 | RNF216 | c.2312G>T (p.Cys771Phe) c.*1429G>T (n.*1429G>T) c.2141G>T (p.Cys714Phe) n.529G>T c.1007G>T (p.Cys336Phe) | |
| 7 | g.5641224C>G | CA366710774 | RNF216 | c.2312G>C (p.Cys771Ser) c.*1429G>C (n.*1429G>C) c.2141G>C (p.Cys714Ser) n.529G>C c.1007G>C (p.Cys336Ser) | |
| 7 | g.5641224C>T | CA366710781 | RNF216 | c.2312G>A (p.Cys771Tyr) c.*1429G>A (n.*1429G>A) c.2141G>A (p.Cys714Tyr) n.529G>A c.1007G>A (p.Cys336Tyr) | |
| 7 | g.5641225A>C | CA366710786 | RNF216 | c.2311T>G (p.Cys771Gly) c.*1428T>G (n.*1428T>G) c.2140T>G (p.Cys714Gly) n.528T>G c.1006T>G (p.Cys336Gly) | |
| 7 | g.5641225A>G | CA366710787 | RNF216 | c.2311T>C (p.Cys771Arg) c.*1428T>C (n.*1428T>C) c.2140T>C (p.Cys714Arg) n.528T>C c.1006T>C (p.Cys336Arg) | |
| 7 | g.5641225A>T | CA366710788 | RNF216 | c.2311T>A (p.Cys771Ser) c.*1428T>A (n.*1428T>A) c.2140T>A (p.Cys714Ser) n.528T>A c.1006T>A (p.Cys336Ser) | |
| 7 | g.5641226G>A | CA453640193 | RNF216 | c.2310C>T (p.Phe770=) c.*1427C>T (n.*1427C>T) c.2139C>T (p.Phe713=) n.527C>T c.1005C>T (p.Phe335=) | gnomAD v4 |
| 7 | g.5641226G>C | CA366710792 | RNF216 | c.2310C>G (p.Phe770Leu) c.*1427C>G (n.*1427C>G) c.2139C>G (p.Phe713Leu) n.527C>G c.1005C>G (p.Phe335Leu) | |
| 7 | g.5641226G>T | CA366710793 | RNF216 | c.2310C>A (p.Phe770Leu) c.*1427C>A (n.*1427C>A) c.2139C>A (p.Phe713Leu) n.527C>A c.1005C>A (p.Phe335Leu) | |
| 7 | g.5641227A>C | CA366710802 | RNF216 | c.2309T>G (p.Phe770Cys) c.*1426T>G (n.*1426T>G) c.2138T>G (p.Phe713Cys) n.526T>G c.1004T>G (p.Phe335Cys) | |
| 7 | g.5641227A>G | CA366710807 | RNF216 | c.2309T>C (p.Phe770Ser) c.*1426T>C (n.*1426T>C) c.2138T>C (p.Phe713Ser) n.526T>C c.1004T>C (p.Phe335Ser) | |
| 7 | g.5641227A>T | CA366710805 | RNF216 | c.2309T>A (p.Phe770Tyr) c.*1426T>A (n.*1426T>A) c.2138T>A (p.Phe713Tyr) n.526T>A c.1004T>A (p.Phe335Tyr) | |
| 7 | g.5641228A>C | CA366710810 | RNF216 | c.2308T>G (p.Phe770Val) c.*1425T>G (n.*1425T>G) c.2137T>G (p.Phe713Val) n.525T>G c.1003T>G (p.Phe335Val) | |
| 7 | g.5641228A>G | CA366710814 | RNF216 | c.2308T>C (p.Phe770Leu) c.*1425T>C (n.*1425T>C) c.2137T>C (p.Phe713Leu) n.525T>C c.1003T>C (p.Phe335Leu) | |
| 7 | g.5641228A>T | CA366710832 | RNF216 | c.2308T>A (p.Phe770Ile) c.*1425T>A (n.*1425T>A) c.2137T>A (p.Phe713Ile) n.525T>A c.1003T>A (p.Phe335Ile) | |
| 7 | g.5641229A>C | CA366710834 | RNF216 | c.2307T>G (p.His769Gln) c.*1424T>G (n.*1424T>G) c.2136T>G (p.His712Gln) n.524T>G c.1002T>G (p.His334Gln) | |
| 7 | g.5641229A>G | CA453640195 | RNF216 | c.2307T>C (p.His769=) c.*1424T>C (n.*1424T>C) c.2136T>C (p.His712=) n.524T>C c.1002T>C (p.His334=) | |
| 7 | g.5641229A>T | CA366710840 | RNF216 | c.2307T>A (p.His769Gln) c.*1424T>A (n.*1424T>A) c.2136T>A (p.His712Gln) n.524T>A c.1002T>A (p.His334Gln) | |
| 7 | g.5641230T>A | CA366710858 | RNF216 | c.2306A>T (p.His769Leu) c.*1423A>T (n.*1423A>T) c.2135A>T (p.His712Leu) n.523A>T c.1001A>T (p.His334Leu) | |
| 7 | g.5641230T>C | CA366710862 | RNF216 | c.2306A>G (p.His769Arg) c.*1423A>G (n.*1423A>G) c.2135A>G (p.His712Arg) n.523A>G c.1001A>G (p.His334Arg) | gnomAD v4 |
| 7 | g.5641230T>G | CA366710866 | RNF216 | c.2306A>C (p.His769Pro) c.*1423A>C (n.*1423A>C) c.2135A>C (p.His712Pro) n.523A>C c.1001A>C (p.His334Pro) | |
| 7 | g.5641231G>A | CA366710870 | RNF216 | c.2305C>T (p.His769Tyr) c.*1422C>T (n.*1422C>T) c.2134C>T (p.His712Tyr) n.522C>T c.1000C>T (p.His334Tyr) | |
| 7 | g.5641231G>C | CA366710871 | RNF216 | c.2305C>G (p.His769Asp) c.*1422C>G (n.*1422C>G) c.2134C>G (p.His712Asp) n.522C>G c.1000C>G (p.His334Asp) | |
| 7 | g.5641231G>T | CA366710874 | RNF216 | c.2305C>A (p.His769Asn) c.*1422C>A (n.*1422C>A) c.2134C>A (p.His712Asn) n.522C>A c.1000C>A (p.His334Asn) | |
| 7 | g.5641232G>A | CA453640199 | RNF216 | c.2304C>T (p.Asp768=) c.*1421C>T (n.*1421C>T) c.2133C>T (p.Asp711=) n.521C>T c.999C>T (p.Asp333=) | |
| 7 | g.5641232G>C | CA4147852 | RNF216 | c.2304C>G (p.Asp768Glu) c.*1421C>G (n.*1421C>G) c.2133C>G (p.Asp711Glu) n.521C>G c.999C>G (p.Asp333Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.5641232G= | CA1685037943 | RNF216 | c.2304C= (p.Asp768=) c.*1421C= (n.*1421C=) c.2133C= (p.Asp711=) n.521C= c.999C= (p.Asp333=) | |
| 7 | g.5641232G>T | CA366710882 | RNF216 | c.2304C>A (p.Asp768Glu) c.*1421C>A (n.*1421C>A) c.2133C>A (p.Asp711Glu) n.521C>A c.999C>A (p.Asp333Glu) | |
| 7 | g.5641233T>A | CA366710888 | RNF216 | c.2303A>T (p.Asp768Val) c.*1420A>T (n.*1420A>T) c.2132A>T (p.Asp711Val) n.520A>T c.998A>T (p.Asp333Val) | |
| 7 | g.5641233T>C | CA366710891 | RNF216 | c.2303A>G (p.Asp768Gly) c.*1420A>G (n.*1420A>G) c.2132A>G (p.Asp711Gly) n.520A>G c.998A>G (p.Asp333Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.5641233T>G | CA366710895 | RNF216 | c.2303A>C (p.Asp768Ala) c.*1420A>C (n.*1420A>C) c.2132A>C (p.Asp711Ala) n.520A>C c.998A>C (p.Asp333Ala) | |
| 7 | g.5641233T= | CA1685037947 | RNF216 | c.2303A= (p.Asp768=) c.*1420A= (n.*1420A=) c.2132A= (p.Asp711=) n.520A= c.998A= (p.Asp333=) | |
| 7 | g.5641234C>A | CA366710909 | RNF216 | c.2302G>T (p.Asp768Tyr) c.*1419G>T (n.*1419G>T) c.2131G>T (p.Asp711Tyr) n.519G>T c.997G>T (p.Asp333Tyr) | |
| 7 | g.5641234C>G | CA366710910 | RNF216 | c.2302G>C (p.Asp768His) c.*1419G>C (n.*1419G>C) c.2131G>C (p.Asp711His) n.519G>C c.997G>C (p.Asp333His) | |
| 7 | g.5641234C>T | CA366710913 | RNF216 | c.2302G>A (p.Asp768Asn) c.*1419G>A (n.*1419G>A) c.2131G>A (p.Asp711Asn) n.519G>A c.997G>A (p.Asp333Asn) | |
| 7 | g.5641235A>C | CA366710925 | RNF216 | c.2301T>G (p.Tyr767Ter) c.*1418T>G (n.*1418T>G) c.2130T>G (p.Tyr710Ter) n.518T>G c.996T>G (p.Tyr332Ter) | |
| 7 | g.5641235A>G | CA453640203 | RNF216 | c.2301T>C (p.Tyr767=) c.*1418T>C (n.*1418T>C) c.2130T>C (p.Tyr710=) n.518T>C c.996T>C (p.Tyr332=) | |
| 7 | g.5641235A>T | CA366710917 | RNF216 | c.2301T>A (p.Tyr767Ter) c.*1418T>A (n.*1418T>A) c.2130T>A (p.Tyr710Ter) n.518T>A c.996T>A (p.Tyr332Ter) | |
| 7 | g.5641236T>A | CA366710927 | RNF216 | c.2300A>T (p.Tyr767Phe) c.*1417A>T (n.*1417A>T) c.2129A>T (p.Tyr710Phe) n.517A>T c.995A>T (p.Tyr332Phe) | |
| 7 | g.5641236T>C | CA366710928 | RNF216 | c.2300A>G (p.Tyr767Cys) c.*1417A>G (n.*1417A>G) c.2129A>G (p.Tyr710Cys) n.517A>G c.995A>G (p.Tyr332Cys) | |
| 7 | g.5641236T>G | CA366710930 | RNF216 | c.2300A>C (p.Tyr767Ser) c.*1417A>C (n.*1417A>C) c.2129A>C (p.Tyr710Ser) n.517A>C c.995A>C (p.Tyr332Ser) | |
| 7 | g.5641237A>C | CA366710943 | RNF216 | c.2299T>G (p.Tyr767Asp) c.*1416T>G (n.*1416T>G) c.2128T>G (p.Tyr710Asp) n.516T>G c.994T>G (p.Tyr332Asp) | |
| 7 | g.5641237A>G | CA366710950 | RNF216 | c.2299T>C (p.Tyr767His) c.*1416T>C (n.*1416T>C) c.2128T>C (p.Tyr710His) n.516T>C c.994T>C (p.Tyr332His) | |
| 7 | g.5641237A>T | CA366710956 | RNF216 | c.2299T>A (p.Tyr767Asn) c.*1416T>A (n.*1416T>A) c.2128T>A (p.Tyr710Asn) n.516T>A c.994T>A (p.Tyr332Asn) | |
| 7 | g.5641238T>A | CA453640205 | RNF216 | c.2298A>T (p.Gly766=) c.*1415A>T (n.*1415A>T) c.2127A>T (p.Gly709=) n.515A>T c.993A>T (p.Gly331=) | |
| 7 | g.5641238T>C | CA453640206 | RNF216 | c.2298A>G (p.Gly766=) c.*1415A>G (n.*1415A>G) c.2127A>G (p.Gly709=) n.515A>G c.993A>G (p.Gly331=) | gnomAD v4 |
| 7 | g.5641238T>G | CA453640207 | RNF216 | c.2298A>C (p.Gly766=) c.*1415A>C (n.*1415A>C) c.2127A>C (p.Gly709=) n.515A>C c.993A>C (p.Gly331=) | |
| 7 | g.5641239C>A | CA366710969 | RNF216 | c.2297G>T (p.Gly766Val) c.*1414G>T (n.*1414G>T) c.2126G>T (p.Gly709Val) n.514G>T c.992G>T (p.Gly331Val) | |
| 7 | g.5641239C= | CA1685037949 | RNF216 | c.2297G= (p.Gly766=) c.*1414G= (n.*1414G=) c.2126G= (p.Gly709=) n.514G= c.992G= (p.Gly331=) | |
| 7 | g.5641239C>G | CA366710977 | RNF216 | c.2297G>C (p.Gly766Ala) c.*1414G>C (n.*1414G>C) c.2126G>C (p.Gly709Ala) n.514G>C c.992G>C (p.Gly331Ala) | |
| 7 | g.5641239C>T | CA4147853 | RNF216 | c.2297G>A (p.Gly766Glu) c.*1414G>A (n.*1414G>A) c.2126G>A (p.Gly709Glu) n.514G>A c.992G>A (p.Gly331Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.5641240C>A | CA366710983 | RNF216 | c.2296G>T (p.Gly766Ter) c.*1413G>T (n.*1413G>T) c.2125G>T (p.Gly709Ter) n.513G>T c.991G>T (p.Gly331Ter) | |
| 7 | g.5641240C>G | CA366710986 | RNF216 | c.2296G>C (p.Gly766Arg) c.*1413G>C (n.*1413G>C) c.2125G>C (p.Gly709Arg) n.513G>C c.991G>C (p.Gly331Arg) | |
| 7 | g.5641240C>T | CA366710993 | RNF216 | c.2296G>A (p.Gly766Arg) c.*1413G>A (n.*1413G>A) c.2125G>A (p.Gly709Arg) n.513G>A c.991G>A (p.Gly331Arg) | gnomAD v4 |
| 7 | g.5641241A>C | CA366710999 | RNF216 | c.2295T>G (p.Asn765Lys) c.*1412T>G (n.*1412T>G) c.2124T>G (p.Asn708Lys) n.512T>G c.990T>G (p.Asn330Lys) | |
| 7 | g.5641241A>G | CA453640208 | RNF216 | c.2295T>C (p.Asn765=) c.*1412T>C (n.*1412T>C) c.2124T>C (p.Asn708=) n.512T>C c.990T>C (p.Asn330=) | |
| 7 | g.5641241A>T | CA366711003 | RNF216 | c.2295T>A (p.Asn765Lys) c.*1412T>A (n.*1412T>A) c.2124T>A (p.Asn708Lys) n.512T>A c.990T>A (p.Asn330Lys) | |
| 7 | g.5641242T>A | CA366711004 | RNF216 | c.2294A>T (p.Asn765Ile) c.*1411A>T (n.*1411A>T) c.2123A>T (p.Asn708Ile) n.511A>T c.989A>T (p.Asn330Ile) | |
| 7 | g.5641242T>C | CA366711005 | RNF216 | c.2294A>G (p.Asn765Ser) c.*1411A>G (n.*1411A>G) c.2123A>G (p.Asn708Ser) n.511A>G c.989A>G (p.Asn330Ser) | gnomAD v4 |
| 7 | g.5641242T>G | CA366711010 | RNF216 | c.2294A>C (p.Asn765Thr) c.*1411A>C (n.*1411A>C) c.2123A>C (p.Asn708Thr) n.511A>C c.989A>C (p.Asn330Thr) | dbSNP |
| 7 | g.5641242T= | CA1685037950 | RNF216 | c.2294A= (p.Asn765=) c.*1411A= (n.*1411A=) c.2123A= (p.Asn708=) n.511A= c.989A= (p.Asn330=) | |
| 7 | g.5641243T>A | CA366711015 | RNF216 | c.2293A>T (p.Asn765Tyr) c.*1410A>T (n.*1410A>T) c.2122A>T (p.Asn708Tyr) n.510A>T c.988A>T (p.Asn330Tyr) | |
| 7 | g.5641243T>C | CA153208330 | RNF216 | c.2293A>G (p.Asn765Asp) c.*1410A>G (n.*1410A>G) c.2122A>G (p.Asn708Asp) n.510A>G c.988A>G (p.Asn330Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.5641243T>G | CA366711028 | RNF216 | c.2293A>C (p.Asn765His) c.*1410A>C (n.*1410A>C) c.2122A>C (p.Asn708His) n.510A>C c.988A>C (p.Asn330His) | gnomAD v4 |
| 7 | g.5641243T= | CA1685037952 | RNF216 | c.2293A= (p.Asn765=) c.*1410A= (n.*1410A=) c.2122A= (p.Asn708=) n.510A= c.988A= (p.Asn330=) | |
| 7 | g.5641244A= | CA1685037956 | RNF216 | c.2292T= (p.Ile764=) c.*1409T= (n.*1409T=) c.2121T= (p.Ile707=) n.509T= c.987T= (p.Ile329=) | |
| 7 | g.5641244A>C | CA366711033 | RNF216 | c.2292T>G (p.Ile764Met) c.*1409T>G (n.*1409T>G) c.2121T>G (p.Ile707Met) n.509T>G c.987T>G (p.Ile329Met) | |
| 7 | g.5641244A>G | CA153208334 | RNF216 | c.2292T>C (p.Ile764=) c.*1409T>C (n.*1409T>C) c.2121T>C (p.Ile707=) n.509T>C c.987T>C (p.Ile329=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.5641244A>T | CA453640212 | RNF216 | c.2292T>A (p.Ile764=) c.*1409T>A (n.*1409T>A) c.2121T>A (p.Ile707=) n.509T>A c.987T>A (p.Ile329=) | |
| 7 | g.5641245A= | CA1685037958 | RNF216 | c.2291T= (p.Ile764=) c.*1408T= (n.*1408T=) c.2120T= (p.Ile707=) n.508T= c.986T= (p.Ile329=) | |
| 7 | g.5641245A>C | CA366711042 | RNF216 | c.2291T>G (p.Ile764Ser) c.*1408T>G (n.*1408T>G) c.2120T>G (p.Ile707Ser) n.508T>G c.986T>G (p.Ile329Ser) | dbSNP gnomAD v4 |
| 7 | g.5641245A>G | CA366711036 | RNF216 | c.2291T>C (p.Ile764Thr) c.*1408T>C (n.*1408T>C) c.2120T>C (p.Ile707Thr) n.508T>C c.986T>C (p.Ile329Thr) | |
| 7 | g.5641245A>T | CA366711051 | RNF216 | c.2291T>A (p.Ile764Asn) c.*1408T>A (n.*1408T>A) c.2120T>A (p.Ile707Asn) n.508T>A c.986T>A (p.Ile329Asn) | |
| 7 | g.5641246T>A | CA366711057 | RNF216 | c.2290A>T (p.Ile764Phe) c.*1407A>T (n.*1407A>T) c.2119A>T (p.Ile707Phe) n.507A>T c.985A>T (p.Ile329Phe) | |
| 7 | g.5641246T>C | CA4147854 | RNF216 | c.2290A>G (p.Ile764Val) c.*1407A>G (n.*1407A>G) c.2119A>G (p.Ile707Val) n.507A>G c.985A>G (p.Ile329Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.5641246T>G | CA366711061 | RNF216 | c.2290A>C (p.Ile764Leu) c.*1407A>C (n.*1407A>C) c.2119A>C (p.Ile707Leu) n.507A>C c.985A>C (p.Ile329Leu) | |
| 7 | g.5641246T= | CA1685037962 | RNF216 | c.2290A= (p.Ile764=) c.*1407A= (n.*1407A=) c.2119A= (p.Ile707=) n.507A= c.985A= (p.Ile329=) | |
| 7 | g.5641247A>C | CA453640214 | RNF216 | c.2289T>G (p.Ser763=) c.*1406T>G (n.*1406T>G) c.2118T>G (p.Ser706=) n.506T>G c.984T>G (p.Ser328=) | |
| 7 | g.5641247A>G | CA453640216 | RNF216 | c.2289T>C (p.Ser763=) c.*1406T>C (n.*1406T>C) c.2118T>C (p.Ser706=) n.506T>C c.984T>C (p.Ser328=) | |
| 7 | g.5641247A>T | CA453640215 | RNF216 | c.2289T>A (p.Ser763=) c.*1406T>A (n.*1406T>A) c.2118T>A (p.Ser706=) n.506T>A c.984T>A (p.Ser328=) | |
| 7 | g.5641248G>A | CA4147855 | RNF216 | c.2288C>T (p.Ser763Phe) c.*1405C>T (n.*1405C>T) c.2117C>T (p.Ser706Phe) n.505C>T c.983C>T (p.Ser328Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.5641248G>C | CA366711072 | RNF216 | c.2288C>G (p.Ser763Cys) c.*1405C>G (n.*1405C>G) c.2117C>G (p.Ser706Cys) n.505C>G c.983C>G (p.Ser328Cys) | |
| 7 | g.5641248G= | CA1685037964 | RNF216 | c.2288C= (p.Ser763=) c.*1405C= (n.*1405C=) c.2117C= (p.Ser706=) n.505C= c.983C= (p.Ser328=) | |
| 7 | g.5641248G>T | CA366711075 | RNF216 | c.2288C>A (p.Ser763Tyr) c.*1405C>A (n.*1405C>A) c.2117C>A (p.Ser706Tyr) n.505C>A c.983C>A (p.Ser328Tyr) | |
| 7 | g.5641249A>C | CA366711085 | RNF216 | c.2287T>G (p.Ser763Ala) c.*1404T>G (n.*1404T>G) c.2116T>G (p.Ser706Ala) n.504T>G c.982T>G (p.Ser328Ala) | |
| 7 | g.5641249A>G | CA366711092 | RNF216 | c.2287T>C (p.Ser763Pro) c.*1404T>C (n.*1404T>C) c.2116T>C (p.Ser706Pro) n.504T>C c.982T>C (p.Ser328Pro) | |
| 7 | g.5641249A>T | CA366711095 | RNF216 | c.2287T>A (p.Ser763Thr) c.*1404T>A (n.*1404T>A) c.2116T>A (p.Ser706Thr) n.504T>A c.982T>A (p.Ser328Thr) | |
| 7 | g.5641250A>C | CA453640218 | RNF216 | c.2286T>G (p.Val762=) c.*1403T>G (n.*1403T>G) c.2115T>G (p.Val705=) n.503T>G c.981T>G (p.Val327=) | |
| 7 | g.5641250A>G | CA453640219 | RNF216 | c.2286T>C (p.Val762=) c.*1403T>C (n.*1403T>C) c.2115T>C (p.Val705=) n.503T>C c.981T>C (p.Val327=) | |
| 7 | g.5641250A>T | CA453640220 | RNF216 | c.2286T>A (p.Val762=) c.*1403T>A (n.*1403T>A) c.2115T>A (p.Val705=) n.503T>A c.981T>A (p.Val327=) | |
| 7 | g.5641251A>C | CA366711107 | RNF216 | c.2285T>G (p.Val762Gly) c.*1402T>G (n.*1402T>G) c.2114T>G (p.Val705Gly) n.502T>G c.980T>G (p.Val327Gly) | |
| 7 | g.5641251A>G | CA366711117 | RNF216 | c.2285T>C (p.Val762Ala) c.*1402T>C (n.*1402T>C) c.2114T>C (p.Val705Ala) n.502T>C c.980T>C (p.Val327Ala) | gnomAD v4 |
| 7 | g.5641251A>T | CA366711121 | RNF216 | c.2285T>A (p.Val762Asp) c.*1402T>A (n.*1402T>A) c.2114T>A (p.Val705Asp) n.502T>A c.980T>A (p.Val327Asp) | |
| 7 | g.5641252C>A | CA366711122 | RNF216 | c.2284G>T (p.Val762Phe) c.*1401G>T (n.*1401G>T) c.2113G>T (p.Val705Phe) n.501G>T c.979G>T (p.Val327Phe) | |
| 7 | g.5641252C>G | CA366711123 | RNF216 | c.2284G>C (p.Val762Leu) c.*1401G>C (n.*1401G>C) c.2113G>C (p.Val705Leu) n.501G>C c.979G>C (p.Val327Leu) | |
| 7 | g.5641252C>T | CA366711127 | RNF216 | c.2284G>A (p.Val762Ile) c.*1401G>A (n.*1401G>A) c.2113G>A (p.Val705Ile) n.501G>A c.979G>A (p.Val327Ile) | gnomAD v4 |
| 7 | g.5641253T>A | CA453640223 | RNF216 | c.2283A>T (p.Arg761=) c.*1400A>T (n.*1400A>T) c.2112A>T (p.Arg704=) n.500A>T c.978A>T (p.Arg326=) | |
| 7 | g.5641253T>C | CA453640224 | RNF216 | c.2283A>G (p.Arg761=) c.*1400A>G (n.*1400A>G) c.2112A>G (p.Arg704=) n.500A>G c.978A>G (p.Arg326=) | |
| 7 | g.5641253T>G | CA453640225 | RNF216 | c.2283A>C (p.Arg761=) c.*1400A>C (n.*1400A>C) c.2112A>C (p.Arg704=) n.500A>C c.978A>C (p.Arg326=) | |
| 7 | g.5641254C>A | CA366711141 | RNF216 | c.2282G>T (p.Arg761Leu) c.*1399G>T (n.*1399G>T) c.2111G>T (p.Arg704Leu) n.499G>T c.977G>T (p.Arg326Leu) | dbSNP |
| 7 | g.5641254C= | CA1685037967 | RNF216 | c.2282G= (p.Arg761=) c.*1399G= (n.*1399G=) c.2111G= (p.Arg704=) n.499G= c.977G= (p.Arg326=) | |
| 7 | g.5641254C>G | CA366711133 | RNF216 | c.2282G>C (p.Arg761Pro) c.*1399G>C (n.*1399G>C) c.2111G>C (p.Arg704Pro) n.499G>C c.977G>C (p.Arg326Pro) | dbSNP |
| 7 | g.5641254C>T | CA366711137 | RNF216 | c.2282G>A (p.Arg761Gln) c.*1399G>A (n.*1399G>A) c.2111G>A (p.Arg704Gln) n.499G>A c.977G>A (p.Arg326Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.5641255G>A | CA366711144 | RNF216 | c.2281C>T (p.Arg761Ter) c.*1398C>T (n.*1398C>T) c.2110C>T (p.Arg704Ter) n.498C>T c.976C>T (p.Arg326Ter) | |
| 7 | g.5641255G>C | CA366711148 | RNF216 | c.2281C>G (p.Arg761Gly) c.*1398C>G (n.*1398C>G) c.2110C>G (p.Arg704Gly) n.498C>G c.976C>G (p.Arg326Gly) | gnomAD v4 COSMIC |
| 7 | g.5641255G>T | CA453640226 | RNF216 | c.2281C>A (p.Arg761=) c.*1398C>A (n.*1398C>A) c.2110C>A (p.Arg704=) n.498C>A c.976C>A (p.Arg326=) | gnomAD v4 |
| 7 | g.5641256A>C | CA366711153 | RNF216 | c.2280T>G (p.Cys760Trp) c.*1397T>G (n.*1397T>G) c.2109T>G (p.Cys703Trp) n.497T>G c.975T>G (p.Cys325Trp) | |
| 7 | g.5641256A>G | CA453640227 | RNF216 | c.2280T>C (p.Cys760=) c.*1397T>C (n.*1397T>C) c.2109T>C (p.Cys703=) n.497T>C c.975T>C (p.Cys325=) | |
| 7 | g.5641256A>T | CA366711157 | RNF216 | c.2280T>A (p.Cys760Ter) c.*1397T>A (n.*1397T>A) c.2109T>A (p.Cys703Ter) n.497T>A c.975T>A (p.Cys325Ter) | |
| 7 | g.5641257C>A | CA366711172 | RNF216 | c.2279G>T (p.Cys760Phe) c.*1396G>T (n.*1396G>T) c.2108G>T (p.Cys703Phe) n.496G>T c.974G>T (p.Cys325Phe) | |
| 7 | g.5641257C>G | CA366711175 | RNF216 | c.2279G>C (p.Cys760Ser) c.*1396G>C (n.*1396G>C) c.2108G>C (p.Cys703Ser) n.496G>C c.974G>C (p.Cys325Ser) | |
| 7 | g.5641257C>T | CA366711186 | RNF216 | c.2279G>A (p.Cys760Tyr) c.*1396G>A (n.*1396G>A) c.2108G>A (p.Cys703Tyr) n.496G>A c.974G>A (p.Cys325Tyr) | ClinVar gnomAD v4 |
| 7 | g.5641258A>C | CA366711193 | RNF216 | c.2278T>G (p.Cys760Gly) c.*1395T>G (n.*1395T>G) c.2107T>G (p.Cys703Gly) n.495T>G c.973T>G (p.Cys325Gly) | |
| 7 | g.5641258A>G | CA366711199 | RNF216 | c.2278T>C (p.Cys760Arg) c.*1395T>C (n.*1395T>C) c.2107T>C (p.Cys703Arg) n.495T>C c.973T>C (p.Cys325Arg) | |
| 7 | g.5641258A>T | CA366711203 | RNF216 | c.2278T>A (p.Cys760Ser) c.*1395T>A (n.*1395T>A) c.2107T>A (p.Cys703Ser) n.495T>A c.973T>A (p.Cys325Ser) | |
| 7 | g.5641259G>A | CA4147856 | RNF216 | c.2277C>T (p.Leu759=) c.*1394C>T (n.*1394C>T) c.2106C>T (p.Leu702=) n.494C>T c.972C>T (p.Leu324=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.5641259G>C | CA453640229 | RNF216 | c.2277C>G (p.Leu759=) c.*1394C>G (n.*1394C>G) c.2106C>G (p.Leu702=) n.494C>G c.972C>G (p.Leu324=) | |
| 7 | g.5641259G= | CA1685037971 | RNF216 | c.2277C= (p.Leu759=) c.*1394C= (n.*1394C=) c.2106C= (p.Leu702=) n.494C= c.972C= (p.Leu324=) | |
| 7 | g.5641259G>T | CA453640228 | RNF216 | c.2277C>A (p.Leu759=) c.*1394C>A (n.*1394C>A) c.2106C>A (p.Leu702=) n.494C>A c.972C>A (p.Leu324=) | |
| 7 | g.5641260A>C | CA366711233 | RNF216 | c.2276T>G (p.Leu759Arg) c.*1393T>G (n.*1393T>G) c.2105T>G (p.Leu702Arg) n.493T>G c.971T>G (p.Leu324Arg) | |
| 7 | g.5641260A>G | CA366711232 | RNF216 | c.2276T>C (p.Leu759Pro) c.*1393T>C (n.*1393T>C) c.2105T>C (p.Leu702Pro) n.493T>C c.971T>C (p.Leu324Pro) | |
| 7 | g.5641260A>T | CA366711228 | RNF216 | c.2276T>A (p.Leu759His) c.*1393T>A (n.*1393T>A) c.2105T>A (p.Leu702His) n.493T>A c.971T>A (p.Leu324His) | |
| 7 | g.5641261G>A | CA366711235 | RNF216 | c.2275C>T (p.Leu759Phe) c.*1392C>T (n.*1392C>T) c.2104C>T (p.Leu702Phe) n.492C>T c.970C>T (p.Leu324Phe) | dbSNP |
| 7 | g.5641261G>C | CA366711238 | RNF216 | c.2275C>G (p.Leu759Val) c.*1392C>G (n.*1392C>G) c.2104C>G (p.Leu702Val) n.492C>G c.970C>G (p.Leu324Val) | gnomAD v4 |
| 7 | g.5641261G= | CA1685037973 | RNF216 | c.2275C= (p.Leu759=) c.*1392C= (n.*1392C=) c.2104C= (p.Leu702=) n.492C= c.970C= (p.Leu324=) | |
| 7 | g.5641261G>T | CA366711241 | RNF216 | c.2275C>A (p.Leu759Ile) c.*1392C>A (n.*1392C>A) c.2104C>A (p.Leu702Ile) n.492C>A c.970C>A (p.Leu324Ile) | |
| 7 | g.5641262G>A | CA453640230 | RNF216 | c.2274C>T (p.Tyr758=) c.*1391C>T (n.*1391C>T) c.2103C>T (p.Tyr701=) n.491C>T c.969C>T (p.Tyr323=) | |
| 7 | g.5641262G>C | CA366711246 | RNF216 | c.2274C>G (p.Tyr758Ter) c.*1391C>G (n.*1391C>G) c.2103C>G (p.Tyr701Ter) n.491C>G c.969C>G (p.Tyr323Ter) | |
| 7 | g.5641262G>T | CA366711249 | RNF216 | c.2274C>A (p.Tyr758Ter) c.*1391C>A (n.*1391C>A) c.2103C>A (p.Tyr701Ter) n.491C>A c.969C>A (p.Tyr323Ter) | |
| 7 | g.5641263T>A | CA366711251 | RNF216 | c.2273A>T (p.Tyr758Phe) c.*1390A>T (n.*1390A>T) c.2102A>T (p.Tyr701Phe) n.490A>T c.968A>T (p.Tyr323Phe) | gnomAD v4 |
| 7 | g.5641263T>C | CA366711254 | RNF216 | c.2273A>G (p.Tyr758Cys) c.*1390A>G (n.*1390A>G) c.2102A>G (p.Tyr701Cys) n.490A>G c.968A>G (p.Tyr323Cys) | gnomAD v4 |
| 7 | g.5641263T>G | CA366711261 | RNF216 | c.2273A>C (p.Tyr758Ser) c.*1390A>C (n.*1390A>C) c.2102A>C (p.Tyr701Ser) n.490A>C c.968A>C (p.Tyr323Ser) | gnomAD v4 |
| 7 | g.5641264A= | CA1685037976 | RNF216 | c.2272T= (p.Tyr758=) c.*1389T= (n.*1389T=) c.2101T= (p.Tyr701=) n.489T= c.967T= (p.Tyr323=) | |
| 7 | g.5641264A>C | CA366711266 | RNF216 | c.2272T>G (p.Tyr758Asp) c.*1389T>G (n.*1389T>G) c.2101T>G (p.Tyr701Asp) n.489T>G c.967T>G (p.Tyr323Asp) | |
| 7 | g.5641264A>G | CA153208337 | RNF216 | c.2272T>C (p.Tyr758His) c.*1389T>C (n.*1389T>C) c.2101T>C (p.Tyr701His) n.489T>C c.967T>C (p.Tyr323His) | dbSNP gnomAD v4 |
| 7 | g.5641264A>T | CA366711272 | RNF216 | c.2272T>A (p.Tyr758Asn) c.*1389T>A (n.*1389T>A) c.2101T>A (p.Tyr701Asn) n.489T>A c.967T>A (p.Tyr323Asn) | |
| 7 | g.5641265G>A | CA453640231 | RNF216 | c.2271C>T (p.Cys757=) c.*1388C>T (n.*1388C>T) c.2100C>T (p.Cys700=) n.488C>T c.966C>T (p.Cys322=) | gnomAD v4 |
| 7 | g.5641265G>C | CA366711281 | RNF216 | c.2271C>G (p.Cys757Trp) c.*1388C>G (n.*1388C>G) c.2100C>G (p.Cys700Trp) n.488C>G c.966C>G (p.Cys322Trp) | |
| 7 | g.5641265G>T | CA366711287 | RNF216 | c.2271C>A (p.Cys757Ter) c.*1388C>A (n.*1388C>A) c.2100C>A (p.Cys700Ter) n.488C>A c.966C>A (p.Cys322Ter) | |
| 7 | g.5641266C>A | CA366711308 | RNF216 | c.2270G>T (p.Cys757Phe) c.*1387G>T (n.*1387G>T) c.2099G>T (p.Cys700Phe) n.487G>T c.965G>T (p.Cys322Phe) | |
| 7 | g.5641266C>G | CA366711301 | RNF216 | c.2270G>C (p.Cys757Ser) c.*1387G>C (n.*1387G>C) c.2099G>C (p.Cys700Ser) n.487G>C c.965G>C (p.Cys322Ser) | |
| 7 | g.5641266C>T | CA366711306 | RNF216 | c.2270G>A (p.Cys757Tyr) c.*1387G>A (n.*1387G>A) c.2099G>A (p.Cys700Tyr) n.487G>A c.965G>A (p.Cys322Tyr) | |
| 7 | g.5641267A>C | CA366711311 | RNF216 | c.2269T>G (p.Cys757Gly) c.*1386T>G (n.*1386T>G) c.2098T>G (p.Cys700Gly) n.486T>G c.964T>G (p.Cys322Gly) | |
| 7 | g.5641267A>G | CA366711315 | RNF216 | c.2269T>C (p.Cys757Arg) c.*1386T>C (n.*1386T>C) c.2098T>C (p.Cys700Arg) n.486T>C c.964T>C (p.Cys322Arg) | |
| 7 | g.5641267A>T | CA366711320 | RNF216 | c.2269T>A (p.Cys757Ser) c.*1386T>A (n.*1386T>A) c.2098T>A (p.Cys700Ser) n.486T>A c.964T>A (p.Cys322Ser) | |
| 7 | g.5641268C>A | CA366711326 | RNF216 | c.2268G>T (p.Met756Ile) c.*1385G>T (n.*1385G>T) c.2097G>T (p.Met699Ile) n.485G>T c.963G>T (p.Met321Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.5641268C= | CA1685037979 | RNF216 | c.2268G= (p.Met756=) c.*1385G= (n.*1385G=) c.2097G= (p.Met699=) n.485G= c.963G= (p.Met321=) | |
| 7 | g.5641268C>G | CA366711331 | RNF216 | c.2268G>C (p.Met756Ile) c.*1385G>C (n.*1385G>C) c.2097G>C (p.Met699Ile) n.485G>C c.963G>C (p.Met321Ile) | |
| 7 | g.5641268C>T | CA366711343 | RNF216 | c.2268G>A (p.Met756Ile) c.*1385G>A (n.*1385G>A) c.2097G>A (p.Met699Ile) n.485G>A c.963G>A (p.Met321Ile) | gnomAD v4 |
| 7 | g.5641269A>C | CA366711347 | RNF216 | c.2267T>G (p.Met756Arg) c.*1384T>G (n.*1384T>G) c.2096T>G (p.Met699Arg) n.484T>G c.962T>G (p.Met321Arg) | |
| 7 | g.5641269A>G | CA366711350 | RNF216 | c.2267T>C (p.Met756Thr) c.*1384T>C (n.*1384T>C) c.2096T>C (p.Met699Thr) n.484T>C c.962T>C (p.Met321Thr) | |
| 7 | g.5641269A>T | CA366711358 | RNF216 | c.2267T>A (p.Met756Lys) c.*1384T>A (n.*1384T>A) c.2096T>A (p.Met699Lys) n.484T>A c.962T>A (p.Met321Lys) | |
| 7 | g.5641270T>A | CA4147857 | RNF216 | c.2266A>T (p.Met756Leu) c.*1383A>T (n.*1383A>T) c.2095A>T (p.Met699Leu) n.483A>T c.961A>T (p.Met321Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.5641270T>C | CA366711367 | RNF216 | c.2266A>G (p.Met756Val) c.*1383A>G (n.*1383A>G) c.2095A>G (p.Met699Val) n.483A>G c.961A>G (p.Met321Val) | gnomAD v4 |
| 7 | g.5641270T>G | CA366711370 | RNF216 | c.2266A>C (p.Met756Leu) c.*1383A>C (n.*1383A>C) c.2095A>C (p.Met699Leu) n.483A>C c.961A>C (p.Met321Leu) | |
| 7 | g.5641270T= | CA1685037984 | RNF216 | c.2266A= (p.Met756=) c.*1383A= (n.*1383A=) c.2095A= (p.Met699=) n.483A= c.961A= (p.Met321=) | |
| 7 | g.5641271C>A | CA366711377 | RNF216 | c.2265G>T (p.Gln755His) c.*1382G>T (n.*1382G>T) c.2094G>T (p.Gln698His) n.482G>T c.960G>T (p.Gln320His) | |
| 7 | g.5641271C>G | CA366711373 | RNF216 | c.2265G>C (p.Gln755His) c.*1382G>C (n.*1382G>C) c.2094G>C (p.Gln698His) n.482G>C c.960G>C (p.Gln320His) | |
| 7 | g.5641271C>T | CA453640233 | RNF216 | c.2265G>A (p.Gln755=) c.*1382G>A (n.*1382G>A) c.2094G>A (p.Gln698=) n.482G>A c.960G>A (p.Gln320=) | |
| 7 | g.5641272T>A | CA366711384 | RNF216 | c.2264A>T (p.Gln755Leu) c.*1381A>T (n.*1381A>T) c.2093A>T (p.Gln698Leu) n.481A>T c.959A>T (p.Gln320Leu) | |
| 7 | g.5641272T>C | CA366711388 | RNF216 | c.2264A>G (p.Gln755Arg) c.*1381A>G (n.*1381A>G) c.2093A>G (p.Gln698Arg) n.481A>G c.959A>G (p.Gln320Arg) | gnomAD v4 |
| 7 | g.5641272T>G | CA366711391 | RNF216 | c.2264A>C (p.Gln755Pro) c.*1381A>C (n.*1381A>C) c.2093A>C (p.Gln698Pro) n.481A>C c.959A>C (p.Gln320Pro) | |
| 7 | g.5641273G>A | CA366711396 | RNF216 | c.2263C>T (p.Gln755Ter) c.*1380C>T (n.*1380C>T) c.2092C>T (p.Gln698Ter) n.480C>T c.958C>T (p.Gln320Ter) | |
| 7 | g.5641273G>C | CA366711401 | RNF216 | c.2263C>G (p.Gln755Glu) c.*1380C>G (n.*1380C>G) c.2092C>G (p.Gln698Glu) n.480C>G c.958C>G (p.Gln320Glu) | |
| 7 | g.5641273G>T | CA366711406 | RNF216 | c.2263C>A (p.Gln755Lys) c.*1380C>A (n.*1380C>A) c.2092C>A (p.Gln698Lys) n.480C>A c.958C>A (p.Gln320Lys) | |
| 7 | g.5641274G>A | CA453640234 | RNF216 | c.2262C>T (p.Ala754=) c.*1379C>T (n.*1379C>T) c.2091C>T (p.Ala697=) n.479C>T c.957C>T (p.Ala319=) | |
| 7 | g.5641274G>C | CA453640235 | RNF216 | c.2262C>G (p.Ala754=) c.*1379C>G (n.*1379C>G) c.2091C>G (p.Ala697=) n.479C>G c.957C>G (p.Ala319=) | |
| 7 | g.5641274G>T | CA453640236 | RNF216 | c.2262C>A (p.Ala754=) c.*1379C>A (n.*1379C>A) c.2091C>A (p.Ala697=) n.479C>A c.957C>A (p.Ala319=) | |
| 7 | g.5641275G>A | CA366711422 | RNF216 | c.2261C>T (p.Ala754Val) c.*1378C>T (n.*1378C>T) c.2090C>T (p.Ala697Val) n.478C>T c.956C>T (p.Ala319Val) | |
| 7 | g.5641275G>C | CA366711417 | RNF216 | c.2261C>G (p.Ala754Gly) c.*1378C>G (n.*1378C>G) c.2090C>G (p.Ala697Gly) n.478C>G c.956C>G (p.Ala319Gly) | |
| 7 | g.5641275G>T | CA366711414 | RNF216 | c.2261C>A (p.Ala754Asp) c.*1378C>A (n.*1378C>A) c.2090C>A (p.Ala697Asp) n.478C>A c.956C>A (p.Ala319Asp) | |
| 7 | g.5641276C>A | CA4147858 | RNF216 | c.2260G>T (p.Ala754Ser) c.*1377G>T (n.*1377G>T) c.2089G>T (p.Ala697Ser) n.477G>T c.955G>T (p.Ala319Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.5641276C= | CA1685037987 | RNF216 | c.2260G= (p.Ala754=) c.*1377G= (n.*1377G=) c.2089G= (p.Ala697=) n.477G= c.955G= (p.Ala319=) | |
| 7 | g.5641276C>G | CA366711429 | RNF216 | c.2260G>C (p.Ala754Pro) c.*1377G>C (n.*1377G>C) c.2089G>C (p.Ala697Pro) n.477G>C c.955G>C (p.Ala319Pro) | |
| 7 | g.5641276C>T | CA366711432 | RNF216 | c.2260G>A (p.Ala754Thr) c.*1377G>A (n.*1377G>A) c.2089G>A (p.Ala697Thr) n.477G>A c.955G>A (p.Ala319Thr) | gnomAD v4 |
| 7 | g.5641277A= | CA1685037991 | RNF216 | c.2259T= (p.Gly753=) c.*1376T= (n.*1376T=) c.2088T= (p.Gly696=) n.476T= c.954T= (p.Gly318=) | |
| 7 | g.5641277A>C | CA453640237 | RNF216 | c.2259T>G (p.Gly753=) c.*1376T>G (n.*1376T>G) c.2088T>G (p.Gly696=) n.476T>G c.954T>G (p.Gly318=) | gnomAD v4 |
| 7 | g.5641277A>G | CA453640238 | RNF216 | c.2259T>C (p.Gly753=) c.*1376T>C (n.*1376T>C) c.2088T>C (p.Gly696=) n.476T>C c.954T>C (p.Gly318=) | dbSNP |
| 7 | g.5641277A>T | CA453640239 | RNF216 | c.2259T>A (p.Gly753=) c.*1376T>A (n.*1376T>A) c.2088T>A (p.Gly696=) n.476T>A c.954T>A (p.Gly318=) | |
| 7 | g.5641278C>A | CA366711441 | RNF216 | c.2258G>T (p.Gly753Val) c.*1375G>T (n.*1375G>T) c.2087G>T (p.Gly696Val) n.475G>T c.953G>T (p.Gly318Val) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.5641278C= | CA1685037994 | RNF216 | c.2258G= (p.Gly753=) c.*1375G= (n.*1375G=) c.2087G= (p.Gly696=) n.475G= c.953G= (p.Gly318=) | |
| 7 | g.5641278C>G | CA366711445 | RNF216 | c.2258G>C (p.Gly753Ala) c.*1375G>C (n.*1375G>C) c.2087G>C (p.Gly696Ala) n.475G>C c.953G>C (p.Gly318Ala) | |
| 7 | g.5641278C>T | CA4147859 | RNF216 | c.2258G>A (p.Gly753Asp) c.*1375G>A (n.*1375G>A) c.2087G>A (p.Gly696Asp) n.475G>A c.953G>A (p.Gly318Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.5641279C>A | CA366711446 | RNF216 | c.2257G>T (p.Gly753Cys) c.*1374G>T (n.*1374G>T) c.2086G>T (p.Gly696Cys) n.474G>T c.952G>T (p.Gly318Cys) | |
| 7 | g.5641279C>G | CA366711458 | RNF216 | c.2257G>C (p.Gly753Arg) c.*1374G>C (n.*1374G>C) c.2086G>C (p.Gly696Arg) n.474G>C c.952G>C (p.Gly318Arg) | |
| 7 | g.5641279C>T | CA366711449 | RNF216 | c.2257G>A (p.Gly753Ser) c.*1374G>A (n.*1374G>A) c.2086G>A (p.Gly696Ser) n.474G>A c.952G>A (p.Gly318Ser) | |
| 7 | g.5641280A>C | CA366711464 | RNF216 | c.2256T>G (p.Cys752Trp) c.*1373T>G (n.*1373T>G) c.2085T>G (p.Cys695Trp) n.473T>G c.951T>G (p.Cys317Trp) | |
| 7 | g.5641280A>G | CA453640240 | RNF216 | c.2256T>C (p.Cys752=) c.*1373T>C (n.*1373T>C) c.2085T>C (p.Cys695=) n.473T>C c.951T>C (p.Cys317=) | gnomAD v4 |
| 7 | g.5641280A>T | CA366711472 | RNF216 | c.2256T>A (p.Cys752Ter) c.*1373T>A (n.*1373T>A) c.2085T>A (p.Cys695Ter) n.473T>A c.951T>A (p.Cys317Ter) | |
| 7 | g.5641281C>A | CA366711475 | RNF216 | c.2255G>T (p.Cys752Phe) c.*1372G>T (n.*1372G>T) c.2084G>T (p.Cys695Phe) n.472G>T c.950G>T (p.Cys317Phe) | |
| 7 | g.5641281C>G | CA366711479 | RNF216 | c.2255G>C (p.Cys752Ser) c.*1372G>C (n.*1372G>C) c.2084G>C (p.Cys695Ser) n.472G>C c.950G>C (p.Cys317Ser) | |
| 7 | g.5641281C>T | CA366711484 | RNF216 | c.2255G>A (p.Cys752Tyr) c.*1372G>A (n.*1372G>A) c.2084G>A (p.Cys695Tyr) n.472G>A c.950G>A (p.Cys317Tyr) | |
| 7 | g.5641282A>C | CA366711488 | RNF216 | c.2254T>G (p.Cys752Gly) c.*1371T>G (n.*1371T>G) c.2083T>G (p.Cys695Gly) n.471T>G c.949T>G (p.Cys317Gly) | |
| 7 | g.5641282A>G | CA366711492 | RNF216 | c.2254T>C (p.Cys752Arg) c.*1371T>C (n.*1371T>C) c.2083T>C (p.Cys695Arg) n.471T>C c.949T>C (p.Cys317Arg) | |
| 7 | g.5641282A>T | CA366711495 | RNF216 | c.2254T>A (p.Cys752Ser) c.*1371T>A (n.*1371T>A) c.2083T>A (p.Cys695Ser) n.471T>A c.949T>A (p.Cys317Ser) | |
| 7 | g.5641283G>A | CA4147860 | RNF216 | c.2253C>T (p.Arg751=) c.*1370C>T (n.*1370C>T) c.2082C>T (p.Arg694=) n.470C>T c.948C>T (p.Arg316=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.5641283G>C | CA453640241 | RNF216 | c.2253C>G (p.Arg751=) c.*1370C>G (n.*1370C>G) c.2082C>G (p.Arg694=) n.470C>G c.948C>G (p.Arg316=) | dbSNP |
| 7 | g.5641283G= | CA1685037996 | RNF216 | c.2253C= (p.Arg751=) c.*1370C= (n.*1370C=) c.2082C= (p.Arg694=) n.470C= c.948C= (p.Arg316=) | |
| 7 | g.5641283G>T | CA453640242 | RNF216 | c.2253C>A (p.Arg751=) c.*1370C>A (n.*1370C>A) c.2082C>A (p.Arg694=) n.470C>A c.948C>A (p.Arg316=) | |
| 7 | g.5641284C>A | CA366711507 | RNF216 | c.2252G>T (p.Arg751Leu) c.*1369G>T (n.*1369G>T) c.2081G>T (p.Arg694Leu) n.469G>T c.947G>T (p.Arg316Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.5641284C= | CA1685038001 | RNF216 | c.2252G= (p.Arg751=) c.*1369G= (n.*1369G=) c.2081G= (p.Arg694=) n.469G= c.947G= (p.Arg316=) | |
| 7 | g.5641284C>G | CA366711509 | RNF216 | c.2252G>C (p.Arg751Pro) c.*1369G>C (n.*1369G>C) c.2081G>C (p.Arg694Pro) n.469G>C c.947G>C (p.Arg316Pro) | |
| 7 | g.5641284C>T | CA4147861 | RNF216 | c.2252G>A (p.Arg751His) c.*1369G>A (n.*1369G>A) c.2081G>A (p.Arg694His) n.469G>A c.947G>A (p.Arg316His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.5641285G>A | CA143853 | RNF216 | c.2251C>T (p.Arg751Cys) c.*1368C>T (n.*1368C>T) c.2080C>T (p.Arg694Cys) n.468C>T c.946C>T (p.Arg316Cys) | ClinVar dbSNP gnomAD v4 |
| 7 | g.5641285G>C | CA366711528 | RNF216 | c.2251C>G (p.Arg751Gly) c.*1368C>G (n.*1368C>G) c.2080C>G (p.Arg694Gly) n.468C>G c.946C>G (p.Arg316Gly) | |
| 7 | g.5641285G= | CA1685038008 | RNF216 | c.2251C= (p.Arg751=) c.*1368C= (n.*1368C=) c.2080C= (p.Arg694=) n.468C= c.946C= (p.Arg316=) | |
| 7 | g.5641285G>T | CA366711538 | RNF216 | c.2251C>A (p.Arg751Ser) c.*1368C>A (n.*1368C>A) c.2080C>A (p.Arg694Ser) n.468C>A c.946C>A (p.Arg316Ser) | |
| 7 | g.5641286G>A | CA453640243 | RNF216 | c.2250C>T (p.Cys750=) c.*1367C>T (n.*1367C>T) c.2079C>T (p.Cys693=) n.467C>T c.945C>T (p.Cys315=) | |
| 7 | g.5641286G>C | CA366711547 | RNF216 | c.2250C>G (p.Cys750Trp) c.*1367C>G (n.*1367C>G) c.2079C>G (p.Cys693Trp) n.467C>G c.945C>G (p.Cys315Trp) | |
| 7 | g.5641286G>T | CA366711551 | RNF216 | c.2250C>A (p.Cys750Ter) c.*1367C>A (n.*1367C>A) c.2079C>A (p.Cys693Ter) n.467C>A c.945C>A (p.Cys315Ter) | |
| 7 | g.5641287C>A | CA366711555 | RNF216 | c.2249G>T (p.Cys750Phe) c.*1366G>T (n.*1366G>T) c.2078G>T (p.Cys693Phe) n.466G>T c.944G>T (p.Cys315Phe) | |
| 7 | g.5641287C>G | CA366711556 | RNF216 | c.2249G>C (p.Cys750Ser) c.*1366G>C (n.*1366G>C) c.2078G>C (p.Cys693Ser) n.466G>C c.944G>C (p.Cys315Ser) | |
| 7 | g.5641287C>T | CA366711557 | RNF216 | c.2249G>A (p.Cys750Tyr) c.*1366G>A (n.*1366G>A) c.2078G>A (p.Cys693Tyr) n.466G>A c.944G>A (p.Cys315Tyr) |