Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.67711573_67711580dup | CA2695234361 | AR | c.*405_*412dup (n.*405_*412dup) c.2057_2064dup (p.Gly689CysfsTer?) c.684_691dup (n.684_691dup) c.461_468dup (p.Gly157CysfsTer?) c.1487_1494dup (p.Gly499CysfsTer?) | |
X | g.67711580T>A | CA517048403 | AR | c.*412T>A (n.*412T>A) c.2064T>A (p.Ala688=) c.691T>A (n.691T>A) c.468T>A (p.Ala156=) c.1494T>A (p.Ala498=) | |
X | g.67711580T>C | CA517048404 | AR | c.*412T>C (n.*412T>C) c.2064T>C (p.Ala688=) c.691T>C (n.691T>C) c.468T>C (p.Ala156=) c.1494T>C (p.Ala498=) | |
X | g.67711580T>G | CA517048405 | AR | c.*412T>G (n.*412T>G) c.2064T>G (p.Ala688=) c.691T>G (n.691T>G) c.468T>G (p.Ala156=) c.1494T>G (p.Ala498=) | |
X | g.67711581G>A | CA413423333 | AR | c.*413G>A (n.*413G>A) c.2065G>A (p.Gly689Arg) c.692G>A (n.692G>A) c.469G>A (p.Gly157Arg) c.1495G>A (p.Gly499Arg) | dbSNP |
X | g.67711581G>C | CA413423334 | AR | c.*413G>C (n.*413G>C) c.2065G>C (p.Gly689Arg) c.692G>C (n.692G>C) c.469G>C (p.Gly157Arg) c.1495G>C (p.Gly499Arg) | dbSNP |
X | g.67711581G>T | CA413423335 | AR | c.*413G>T (n.*413G>T) c.2065G>T (p.Gly689Ter) c.692G>T (n.692G>T) c.469G>T (p.Gly157Ter) c.1495G>T (p.Gly499Ter) | |
X | g.67711582G>A | CA413423336 | AR | c.*414G>A (n.*414G>A) c.2066G>A (p.Gly689Glu) c.693G>A (n.693G>A) c.470G>A (p.Gly157Glu) c.1496G>A (p.Gly499Glu) | dbSNP |
X | g.67711582G>C | CA413423337 | AR | c.*414G>C (n.*414G>C) c.2066G>C (p.Gly689Ala) c.693G>C (n.693G>C) c.470G>C (p.Gly157Ala) c.1496G>C (p.Gly499Ala) | dbSNP gnomAD v4 COSMIC COSMIC |
X | g.67711582G>T | CA413423338 | AR | c.*414G>T (n.*414G>T) c.2066G>T (p.Gly689Val) c.693G>T (n.693G>T) c.470G>T (p.Gly157Val) c.1496G>T (p.Gly499Val) | dbSNP |
X | g.67711583A>C | CA517048407 | AR | c.*415A>C (n.*415A>C) c.2067A>C (p.Gly689=) c.694A>C (n.694A>C) c.471A>C (p.Gly157=) c.1497A>C (p.Gly499=) | dbSNP |
X | g.67711583A>G | CA517048409 | AR | c.*415A>G (n.*415A>G) c.2067A>G (p.Gly689=) c.694A>G (n.694A>G) c.471A>G (p.Gly157=) c.1497A>G (p.Gly499=) | dbSNP |
X | g.67711583A>T | CA517048411 | AR | c.*415A>T (n.*415A>T) c.2067A>T (p.Gly689=) c.694A>T (n.694A>T) c.471A>T (p.Gly157=) c.1497A>T (p.Gly499=) | dbSNP |
X | g.67711584C>A | CA413423339 | AR | c.*416C>A (n.*416C>A) c.2068C>A (p.His690Asn) c.695C>A (n.695C>A) c.472C>A (p.His158Asn) c.1498C>A (p.His500Asn) | ClinVar dbSNP |
X | g.67711584C= | CA2435130493 | AR | c.*416C= (n.*416C=) c.2068C= (p.His690=) c.695C= (n.695C=) c.472C= (p.His158=) c.1498C= (p.His500=) | |
X | g.67711584C>G | CA413423340 | AR | c.*416C>G (n.*416C>G) c.2068C>G (p.His690Asp) c.695C>G (n.695C>G) c.472C>G (p.His158Asp) c.1498C>G (p.His500Asp) | dbSNP |
X | g.67711584C>T | CA413423341 | AR | c.*416C>T (n.*416C>T) c.2068C>T (p.His690Tyr) c.695C>T (n.695C>T) c.472C>T (p.His158Tyr) c.1498C>T (p.His500Tyr) | dbSNP |
X | g.67711585A= | CA2435130494 | AR | c.*417A= (n.*417A=) c.2069A= (p.His690=) c.696A= (n.696A=) c.473A= (p.His158=) c.1499A= (p.His500=) | |
X | g.67711585A>C | CA120783 | AR | c.*417A>C (n.*417A>C) c.2069A>C (p.His690Pro) c.696A>C (n.696A>C) c.473A>C (p.His158Pro) c.1499A>C (p.His500Pro) | ClinVar dbSNP |
X | g.67711585A>G | CA413423342 | AR | c.*417A>G (n.*417A>G) c.2069A>G (p.His690Arg) c.696A>G (n.696A>G) c.473A>G (p.His158Arg) c.1499A>G (p.His500Arg) | dbSNP |
X | g.67711585A>T | CA413423343 | AR | c.*417A>T (n.*417A>T) c.2069A>T (p.His690Leu) c.696A>T (n.696A>T) c.473A>T (p.His158Leu) c.1499A>T (p.His500Leu) | dbSNP |
X | g.67711587_67711589del | CA2695234362 | AR | c.*419_*421del (n.*419_*421del) c.2071_2073del (p.Asp691del) c.698_700del (n.698_700del) c.475_477del (p.Asp159del) c.1501_1503del (p.Asp501del) | |
X | g.67711586C>A | CA413423344 | AR | c.*418C>A (n.*418C>A) c.2070C>A (p.His690Gln) c.697C>A (n.697C>A) c.474C>A (p.His158Gln) c.1500C>A (p.His500Gln) | |
X | g.67711586C= | CA2435130495 | AR | c.*418C= (n.*418C=) c.2070C= (p.His690=) c.697C= (n.697C=) c.474C= (p.His158=) c.1500C= (p.His500=) | |
X | g.67711586C>G | CA413423345 | AR | c.*418C>G (n.*418C>G) c.2070C>G (p.His690Gln) c.697C>G (n.697C>G) c.474C>G (p.His158Gln) c.1500C>G (p.His500Gln) | ClinVar dbSNP |
X | g.67711586C>T | CA10436571 | AR | c.*418C>T (n.*418C>T) c.2070C>T (p.His690=) c.697C>T (n.697C>T) c.474C>T (p.His158=) c.1500C>T (p.His500=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.67711587G>A | CA330771346 | AR | c.*419G>A (n.*419G>A) c.2071G>A (p.Asp691Asn) c.698G>A (n.698G>A) c.475G>A (p.Asp159Asn) c.1501G>A (p.Asp501Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.67711587G>C | CA413423347 | AR | c.*419G>C (n.*419G>C) c.2071G>C (p.Asp691His) c.698G>C (n.698G>C) c.475G>C (p.Asp159His) c.1501G>C (p.Asp501His) | dbSNP |
X | g.67711587G= | CA2435130496 | AR | c.*419G= (n.*419G=) c.2071G= (p.Asp691=) c.698G= (n.698G=) c.475G= (p.Asp159=) c.1501G= (p.Asp501=) | |
X | g.67711587G>T | CA413423346 | AR | c.*419G>T (n.*419G>T) c.2071G>T (p.Asp691Tyr) c.698G>T (n.698G>T) c.475G>T (p.Asp159Tyr) c.1501G>T (p.Asp501Tyr) | dbSNP |
X | g.67711588A= | CA2435130497 | AR | c.*420A= (n.*420A=) c.2072A= (p.Asp691=) c.699A= (n.699A=) c.476A= (p.Asp159=) c.1502A= (p.Asp501=) | |
X | g.67711588A>C | CA413423348 | AR | c.*420A>C (n.*420A>C) c.2072A>C (p.Asp691Ala) c.699A>C (n.699A>C) c.476A>C (p.Asp159Ala) c.1502A>C (p.Asp501Ala) | dbSNP |
X | g.67711588A>G | CA413423349 | AR | c.*420A>G (n.*420A>G) c.2072A>G (p.Asp691Gly) c.699A>G (n.699A>G) c.476A>G (p.Asp159Gly) c.1502A>G (p.Asp501Gly) | ClinVar dbSNP |
X | g.67711588A>T | CA413423350 | AR | c.*420A>T (n.*420A>T) c.2072A>T (p.Asp691Val) c.699A>T (n.699A>T) c.476A>T (p.Asp159Val) c.1502A>T (p.Asp501Val) | dbSNP COSMIC COSMIC |
X | g.67711593_67711595del | CA2695234363 | AR | c.*425_*427del (n.*425_*427del) c.2077_2079del (p.Asn693del) c.704_706del (n.704_706del) c.481_483del (p.Asn161del) c.1507_1509del (p.Asn503del) | |
X | g.67711589C>A | CA413423351 | AR | c.*421C>A (n.*421C>A) c.2073C>A (p.Asp691Glu) c.700C>A (n.700C>A) c.477C>A (p.Asp159Glu) c.1503C>A (p.Asp501Glu) | |
X | g.67711589C= | CA2435130498 | AR | c.*421C= (n.*421C=) c.2073C= (p.Asp691=) c.700C= (n.700C=) c.477C= (p.Asp159=) c.1503C= (p.Asp501=) | |
X | g.67711589C>G | CA413423352 | AR | c.*421C>G (n.*421C>G) c.2073C>G (p.Asp691Glu) c.700C>G (n.700C>G) c.477C>G (p.Asp159Glu) c.1503C>G (p.Asp501Glu) | dbSNP |
X | g.67711589C>T | CA10436572 | AR | c.*421C>T (n.*421C>T) c.2073C>T (p.Asp691=) c.700C>T (n.700C>T) c.477C>T (p.Asp159=) c.1503C>T (p.Asp501=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.67711590A>C | CA413423353 | AR | c.*422A>C (n.*422A>C) c.2074A>C (p.Asn692His) c.701A>C (n.701A>C) c.478A>C (p.Asn160His) c.1504A>C (p.Asn502His) | |
X | g.67711590A>G | CA413423354 | AR | c.*422A>G (n.*422A>G) c.2074A>G (p.Asn692Asp) c.701A>G (n.701A>G) c.478A>G (p.Asn160Asp) c.1504A>G (p.Asn502Asp) | |
X | g.67711590A>T | CA413423355 | AR | c.*422A>T (n.*422A>T) c.2074A>T (p.Asn692Tyr) c.701A>T (n.701A>T) c.478A>T (p.Asn160Tyr) c.1504A>T (p.Asn502Tyr) | dbSNP |
X | g.67711591A>C | CA413423356 | AR | c.*423A>C (n.*423A>C) c.2075A>C (p.Asn692Thr) c.702A>C (n.702A>C) c.479A>C (p.Asn160Thr) c.1505A>C (p.Asn502Thr) | dbSNP |
X | g.67711591A>G | CA413423357 | AR | c.*423A>G (n.*423A>G) c.2075A>G (p.Asn692Ser) c.702A>G (n.702A>G) c.479A>G (p.Asn160Ser) c.1505A>G (p.Asn502Ser) | dbSNP |
X | g.67711591A>T | CA413423358 | AR | c.*423A>T (n.*423A>T) c.2075A>T (p.Asn692Ile) c.702A>T (n.702A>T) c.479A>T (p.Asn160Ile) c.1505A>T (p.Asn502Ile) | dbSNP |
X | g.67711592C>A | CA413423359 | AR | c.*424C>A (n.*424C>A) c.2076C>A (p.Asn692Lys) c.703C>A (n.703C>A) c.480C>A (p.Asn160Lys) c.1506C>A (p.Asn502Lys) | ClinVar dbSNP |
X | g.67711592C>G | CA413423360 | AR | c.*424C>G (n.*424C>G) c.2076C>G (p.Asn692Lys) c.703C>G (n.703C>G) c.480C>G (p.Asn160Lys) c.1506C>G (p.Asn502Lys) | dbSNP |
X | g.67711592C>T | CA517048428 | AR | c.*424C>T (n.*424C>T) c.2076C>T (p.Asn692=) c.703C>T (n.703C>T) c.480C>T (p.Asn160=) c.1506C>T (p.Asn502=) | |
X | g.67711593A>C | CA413423363 | AR | c.*425A>C (n.*425A>C) c.2077A>C (p.Asn693His) c.704A>C (n.704A>C) c.481A>C (p.Asn161His) c.1507A>C (p.Asn503His) | dbSNP |
X | g.67711593A>G | CA413423362 | AR | c.*425A>G (n.*425A>G) c.2077A>G (p.Asn693Asp) c.704A>G (n.704A>G) c.481A>G (p.Asn161Asp) c.1507A>G (p.Asn503Asp) | dbSNP |