Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.91272671G>A | CA390608002 | CCDC88C | c.6041C>T (p.Pro2014Leu) c.1475C>T (p.Pro492Leu) c.2269C>T c.5933C>T (p.Pro1978Leu) c.3122C>T (p.Pro1041Leu) | gnomAD v4 |
14 | g.91272671G>C | CA390608000 | CCDC88C | c.6041C>G (p.Pro2014Arg) c.1475C>G (p.Pro492Arg) c.2269C>G c.5933C>G (p.Pro1978Arg) c.3122C>G (p.Pro1041Arg) | gnomAD v4 |
14 | g.91272671G>T | CA390608001 | CCDC88C | c.6041C>A (p.Pro2014His) c.1475C>A (p.Pro492His) c.2269C>A c.5933C>A (p.Pro1978His) c.3122C>A (p.Pro1041His) | |
14 | g.91272672G>A | CA390608003 | CCDC88C | c.6040C>T (p.Pro2014Ser) c.1474C>T (p.Pro492Ser) c.2268C>T c.5932C>T (p.Pro1978Ser) c.3121C>T (p.Pro1041Ser) | COSMIC COSMIC COSMIC |
14 | g.91272672G>C | CA390608004 | CCDC88C | c.6040C>G (p.Pro2014Ala) c.1474C>G (p.Pro492Ala) c.2268C>G c.5932C>G (p.Pro1978Ala) c.3121C>G (p.Pro1041Ala) | |
14 | g.91272672G>T | CA390608005 | CCDC88C | c.6040C>A (p.Pro2014Thr) c.1474C>A (p.Pro492Thr) c.2268C>A c.5932C>A (p.Pro1978Thr) c.3121C>A (p.Pro1041Thr) | |
14 | g.91272673C>A | CA390608006 | CCDC88C | c.6039G>T (p.Glu2013Asp) c.1473G>T (p.Glu491Asp) c.2267G>T c.5931G>T (p.Glu1977Asp) c.3120G>T (p.Glu1040Asp) | |
14 | g.91272673C>G | CA390608007 | CCDC88C | c.6039G>C (p.Glu2013Asp) c.1473G>C (p.Glu491Asp) c.2267G>C c.5931G>C (p.Glu1977Asp) c.3120G>C (p.Glu1040Asp) | gnomAD v4 |
14 | g.91272673C>T | CA487828481 | CCDC88C | c.6039G>A (p.Glu2013=) c.1473G>A (p.Glu491=) c.2267G>A c.5931G>A (p.Glu1977=) c.3120G>A (p.Glu1040=) | |
14 | g.91272674T>A | CA390608008 | CCDC88C | c.6038A>T (p.Glu2013Val) c.1472A>T (p.Glu491Val) c.2266A>T c.5930A>T (p.Glu1977Val) c.3119A>T (p.Glu1040Val) | |
14 | g.91272674T>C | CA390608010 | CCDC88C | c.6038A>G (p.Glu2013Gly) c.1472A>G (p.Glu491Gly) c.2266A>G c.5930A>G (p.Glu1977Gly) c.3119A>G (p.Glu1040Gly) | |
14 | g.91272674T>G | CA390608009 | CCDC88C | c.6038A>C (p.Glu2013Ala) c.1472A>C (p.Glu491Ala) c.2266A>C c.5930A>C (p.Glu1977Ala) c.3119A>C (p.Glu1040Ala) | |
14 | g.91272675C>A | CA390608011 | CCDC88C | c.6037G>T (p.Glu2013Ter) c.1471G>T (p.Glu491Ter) c.2265G>T c.5929G>T (p.Glu1977Ter) c.3118G>T (p.Glu1040Ter) | |
14 | g.91272675C= | CA2154900020 | CCDC88C | c.6037G= (p.Glu2013=) c.1471G= (p.Glu491=) c.2265G= c.5929G= (p.Glu1977=) c.3118G= (p.Glu1040=) | |
14 | g.91272675C>G | CA390608012 | CCDC88C | c.6037G>C (p.Glu2013Gln) c.1471G>C (p.Glu491Gln) c.2265G>C c.5929G>C (p.Glu1977Gln) c.3118G>C (p.Glu1040Gln) | |
14 | g.91272675C>T | CA390608013 | CCDC88C | c.6037G>A (p.Glu2013Lys) c.1471G>A (p.Glu491Lys) c.2265G>A c.5929G>A (p.Glu1977Lys) c.3118G>A (p.Glu1040Lys) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91272676C>A | CA487828484 | CCDC88C | c.6036G>T (p.Pro2012=) c.1470G>T (p.Pro490=) c.2264G>T c.5928G>T (p.Pro1976=) c.3117G>T (p.Pro1039=) | |
14 | g.91272676C= | CA2154900030 | CCDC88C | c.6036G= (p.Pro2012=) c.1470G= (p.Pro490=) c.2264G= c.5928G= (p.Pro1976=) c.3117G= (p.Pro1039=) | |
14 | g.91272676C>G | CA487828485 | CCDC88C | c.6036G>C (p.Pro2012=) c.1470G>C (p.Pro490=) c.2264G>C c.5928G>C (p.Pro1976=) c.3117G>C (p.Pro1039=) | gnomAD v4 |
14 | g.91272676C>T | CA7308521 | CCDC88C | c.6036G>A (p.Pro2012=) c.1470G>A (p.Pro490=) c.2264G>A c.5928G>A (p.Pro1976=) c.3117G>A (p.Pro1039=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272677G>A | CA7308522 | CCDC88C | c.6035C>T (p.Pro2012Leu) c.1469C>T (p.Pro490Leu) c.2263C>T c.5927C>T (p.Pro1976Leu) c.3116C>T (p.Pro1039Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272677G>C | CA390608014 | CCDC88C | c.6035C>G (p.Pro2012Arg) c.1469C>G (p.Pro490Arg) c.2263C>G c.5927C>G (p.Pro1976Arg) c.3116C>G (p.Pro1039Arg) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91272677G= | CA2154900037 | CCDC88C | c.6035C= (p.Pro2012=) c.1469C= (p.Pro490=) c.2263C= c.5927C= (p.Pro1976=) c.3116C= (p.Pro1039=) | |
14 | g.91272677G>T | CA7308523 | CCDC88C | c.6035C>A (p.Pro2012Gln) c.1469C>A (p.Pro490Gln) c.2263C>A c.5927C>A (p.Pro1976Gln) c.3116C>A (p.Pro1039Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91272680del | CA2626127171 | CCDC88C | c.6035del (p.Pro2012ArgfsTer?) c.1469del (p.Pro490ArgfsTer?) c.2263del c.5927del (p.Pro1976ArgfsTer?) c.3116del (p.Pro1039ArgfsTer?) | gnomAD v4 |
14 | g.91272678G>A | CA390608015 | CCDC88C | c.6034C>T (p.Pro2012Ser) c.1468C>T (p.Pro490Ser) c.2262C>T c.5926C>T (p.Pro1976Ser) c.3115C>T (p.Pro1039Ser) | gnomAD v4 |
14 | g.91272678G>C | CA390608016 | CCDC88C | c.6034C>G (p.Pro2012Ala) c.1468C>G (p.Pro490Ala) c.2262C>G c.5926C>G (p.Pro1976Ala) c.3115C>G (p.Pro1039Ala) | |
14 | g.91272678G>T | CA390608017 | CCDC88C | c.6034C>A (p.Pro2012Thr) c.1468C>A (p.Pro490Thr) c.2262C>A c.5926C>A (p.Pro1976Thr) c.3115C>A (p.Pro1039Thr) | |
14 | g.91272679G>A | CA487828489 | CCDC88C | c.6033C>T (p.Ser2011=) c.1467C>T (p.Ser489=) c.2261C>T c.5925C>T (p.Ser1975=) c.3114C>T (p.Ser1038=) | gnomAD v4 |
14 | g.91272679G>C | CA487828490 | CCDC88C | c.6033C>G (p.Ser2011=) c.1467C>G (p.Ser489=) c.2261C>G c.5925C>G (p.Ser1975=) c.3114C>G (p.Ser1038=) | dbSNP |
14 | g.91272679G= | CA2154900040 | CCDC88C | c.6033C= (p.Ser2011=) c.1467C= (p.Ser489=) c.2261C= c.5925C= (p.Ser1975=) c.3114C= (p.Ser1038=) | |
14 | g.91272679G>T | CA487828491 | CCDC88C | c.6033C>A (p.Ser2011=) c.1467C>A (p.Ser489=) c.2261C>A c.5925C>A (p.Ser1975=) c.3114C>A (p.Ser1038=) | |
14 | g.91272680G>A | CA390608018 | CCDC88C | c.6032C>T (p.Ser2011Phe) c.1466C>T (p.Ser489Phe) c.2260C>T c.5924C>T (p.Ser1975Phe) c.3113C>T (p.Ser1038Phe) | gnomAD v4 |
14 | g.91272680G>C | CA7308524 | CCDC88C | c.6032C>G (p.Ser2011Cys) c.1466C>G (p.Ser489Cys) c.2260C>G c.5924C>G (p.Ser1975Cys) c.3113C>G (p.Ser1038Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272680G= | CA2154900057 | CCDC88C | c.6032C= (p.Ser2011=) c.1466C= (p.Ser489=) c.2260C= c.5924C= (p.Ser1975=) c.3113C= (p.Ser1038=) | |
14 | g.91272680G>T | CA390608019 | CCDC88C | c.6032C>A (p.Ser2011Tyr) c.1466C>A (p.Ser489Tyr) c.2260C>A c.5924C>A (p.Ser1975Tyr) c.3113C>A (p.Ser1038Tyr) | gnomAD v4 |
14 | g.91272681A>C | CA390608020 | CCDC88C | c.6031T>G (p.Ser2011Ala) c.1465T>G (p.Ser489Ala) c.2259T>G c.5923T>G (p.Ser1975Ala) c.3112T>G (p.Ser1038Ala) | |
14 | g.91272681A>G | CA390608021 | CCDC88C | c.6031T>C (p.Ser2011Pro) c.1465T>C (p.Ser489Pro) c.2259T>C c.5923T>C (p.Ser1975Pro) c.3112T>C (p.Ser1038Pro) | |
14 | g.91272681A>T | CA390608022 | CCDC88C | c.6031T>A (p.Ser2011Thr) c.1465T>A (p.Ser489Thr) c.2259T>A c.5923T>A (p.Ser1975Thr) c.3112T>A (p.Ser1038Thr) | |
14 | g.91272682G>A | CA487828493 | CCDC88C | c.6030C>T (p.Ala2010=) c.1464C>T (p.Ala488=) c.2258C>T c.5922C>T (p.Ala1974=) c.3111C>T (p.Ala1037=) | gnomAD v4 |
14 | g.91272682G>C | CA487828495 | CCDC88C | c.6030C>G (p.Ala2010=) c.1464C>G (p.Ala488=) c.2258C>G c.5922C>G (p.Ala1974=) c.3111C>G (p.Ala1037=) | |
14 | g.91272682G>T | CA487828496 | CCDC88C | c.6030C>A (p.Ala2010=) c.1464C>A (p.Ala488=) c.2258C>A c.5922C>A (p.Ala1974=) c.3111C>A (p.Ala1037=) | gnomAD v4 |
14 | g.91272683G>A | CA390608023 | CCDC88C | c.6029C>T (p.Ala2010Val) c.1463C>T (p.Ala488Val) c.2257C>T c.5921C>T (p.Ala1974Val) c.3110C>T (p.Ala1037Val) | |
14 | g.91272683G>C | CA390608024 | CCDC88C | c.6029C>G (p.Ala2010Gly) c.1463C>G (p.Ala488Gly) c.2257C>G c.5921C>G (p.Ala1974Gly) c.3110C>G (p.Ala1037Gly) | |
14 | g.91272683G>T | CA390608025 | CCDC88C | c.6029C>A (p.Ala2010Asp) c.1463C>A (p.Ala488Asp) c.2257C>A c.5921C>A (p.Ala1974Asp) c.3110C>A (p.Ala1037Asp) | gnomAD v4 |
14 | g.91272684C>A | CA390608027 | CCDC88C | c.6028G>T (p.Ala2010Ser) c.1462G>T (p.Ala488Ser) c.2256G>T c.5920G>T (p.Ala1974Ser) c.3109G>T (p.Ala1037Ser) | dbSNP |
14 | g.91272684C= | CA2154900062 | CCDC88C | c.6028G= (p.Ala2010=) c.1462G= (p.Ala488=) c.2256G= c.5920G= (p.Ala1974=) c.3109G= (p.Ala1037=) | |
14 | g.91272684C>G | CA390608028 | CCDC88C | c.6028G>C (p.Ala2010Pro) c.1462G>C (p.Ala488Pro) c.2256G>C c.5920G>C (p.Ala1974Pro) c.3109G>C (p.Ala1037Pro) | |
14 | g.91272684C>T | CA390608026 | CCDC88C | c.6028G>A (p.Ala2010Thr) c.1462G>A (p.Ala488Thr) c.2256G>A c.5920G>A (p.Ala1974Thr) c.3109G>A (p.Ala1037Thr) | gnomAD v4 |
14 | g.91272685C>A | CA487828498 | CCDC88C | c.6027G>T (p.Pro2009=) c.1461G>T (p.Pro487=) c.2255G>T c.5919G>T (p.Pro1973=) c.3108G>T (p.Pro1036=) | |
14 | g.91272685C= | CA2154900082 | CCDC88C | c.6027G= (p.Pro2009=) c.1461G= (p.Pro487=) c.2255G= c.5919G= (p.Pro1973=) c.3108G= (p.Pro1036=) | |
14 | g.91272685C>G | CA487828499 | CCDC88C | c.6027G>C (p.Pro2009=) c.1461G>C (p.Pro487=) c.2255G>C c.5919G>C (p.Pro1973=) c.3108G>C (p.Pro1036=) | |
14 | g.91272685C>T | CA7308525 | CCDC88C | c.6027G>A (p.Pro2009=) c.1461G>A (p.Pro487=) c.2255G>A c.5919G>A (p.Pro1973=) c.3108G>A (p.Pro1036=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272686G>A | CA7308526 | CCDC88C | c.6026C>T (p.Pro2009Leu) c.1460C>T (p.Pro487Leu) c.2254C>T c.5918C>T (p.Pro1973Leu) c.3107C>T (p.Pro1036Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
14 | g.91272686G>C | CA390608029 | CCDC88C | c.6026C>G (p.Pro2009Arg) c.1460C>G (p.Pro487Arg) c.2254C>G c.5918C>G (p.Pro1973Arg) c.3107C>G (p.Pro1036Arg) | gnomAD v4 |
14 | g.91272686G= | CA2154900094 | CCDC88C | c.6026C= (p.Pro2009=) c.1460C= (p.Pro487=) c.2254C= c.5918C= (p.Pro1973=) c.3107C= (p.Pro1036=) | |
14 | g.91272686G>T | CA390608030 | CCDC88C | c.6026C>A (p.Pro2009Gln) c.1460C>A (p.Pro487Gln) c.2254C>A c.5918C>A (p.Pro1973Gln) c.3107C>A (p.Pro1036Gln) | gnomAD v4 |
14 | g.91272687G>A | CA390608033 | CCDC88C | c.6025C>T (p.Pro2009Ser) c.1459C>T (p.Pro487Ser) c.2253C>T c.5917C>T (p.Pro1973Ser) c.3106C>T (p.Pro1036Ser) | gnomAD v4 |
14 | g.91272687G>C | CA390608032 | CCDC88C | c.6025C>G (p.Pro2009Ala) c.1459C>G (p.Pro487Ala) c.2253C>G c.5917C>G (p.Pro1973Ala) c.3106C>G (p.Pro1036Ala) | |
14 | g.91272687G>T | CA390608031 | CCDC88C | c.6025C>A (p.Pro2009Thr) c.1459C>A (p.Pro487Thr) c.2253C>A c.5917C>A (p.Pro1973Thr) c.3106C>A (p.Pro1036Thr) | |
14 | g.91272688A= | CA2154900105 | CCDC88C | c.6024T= (p.Ser2008=) c.1458T= (p.Ser486=) c.2252T= c.5916T= (p.Ser1972=) c.3105T= (p.Ser1035=) | |
14 | g.91272688A>C | CA390608034 | CCDC88C | c.6024T>G (p.Ser2008Arg) c.1458T>G (p.Ser486Arg) c.2252T>G c.5916T>G (p.Ser1972Arg) c.3105T>G (p.Ser1035Arg) | |
14 | g.91272688A>G | CA7308527 | CCDC88C | c.6024T>C (p.Ser2008=) c.1458T>C (p.Ser486=) c.2252T>C c.5916T>C (p.Ser1972=) c.3105T>C (p.Ser1035=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272688A>T | CA390608035 | CCDC88C | c.6024T>A (p.Ser2008Arg) c.1458T>A (p.Ser486Arg) c.2252T>A c.5916T>A (p.Ser1972Arg) c.3105T>A (p.Ser1035Arg) | |
14 | g.91272689C>A | CA390608036 | CCDC88C | c.6023G>T (p.Ser2008Ile) c.1457G>T (p.Ser486Ile) c.2251G>T c.5915G>T (p.Ser1972Ile) c.3104G>T (p.Ser1035Ile) | |
14 | g.91272689C>G | CA390608037 | CCDC88C | c.6023G>C (p.Ser2008Thr) c.1457G>C (p.Ser486Thr) c.2251G>C c.5915G>C (p.Ser1972Thr) c.3104G>C (p.Ser1035Thr) | |
14 | g.91272689C>T | CA390608038 | CCDC88C | c.6023G>A (p.Ser2008Asn) c.1457G>A (p.Ser486Asn) c.2251G>A c.5915G>A (p.Ser1972Asn) c.3104G>A (p.Ser1035Asn) | |
14 | g.91272690T>A | CA390608040 | CCDC88C | c.6022A>T (p.Ser2008Cys) c.1456A>T (p.Ser486Cys) c.2250A>T c.5914A>T (p.Ser1972Cys) c.3103A>T (p.Ser1035Cys) | |
14 | g.91272690T>C | CA7308528 | CCDC88C | c.6022A>G (p.Ser2008Gly) c.1456A>G (p.Ser486Gly) c.2250A>G c.5914A>G (p.Ser1972Gly) c.3103A>G (p.Ser1035Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272690T>G | CA390608039 | CCDC88C | c.6022A>C (p.Ser2008Arg) c.1456A>C (p.Ser486Arg) c.2250A>C c.5914A>C (p.Ser1972Arg) c.3103A>C (p.Ser1035Arg) | |
14 | g.91272690T= | CA2154900109 | CCDC88C | c.6022A= (p.Ser2008=) c.1456A= (p.Ser486=) c.2250A= c.5914A= (p.Ser1972=) c.3103A= (p.Ser1035=) | |
14 | g.91272691del | CA2730191427 | CCDC88C | c.6021del (p.Ser2007ArgfsTer?) c.1455del (p.Ser485ArgfsTer?) c.2249del c.5913del (p.Ser1971ArgfsTer?) c.3102del (p.Ser1034ArgfsTer?) | dbSNP |
14 | g.91272691G>A | CA265517062 | CCDC88C | c.6021C>T (p.Ser2007=) c.1455C>T (p.Ser485=) c.2249C>T c.5913C>T (p.Ser1971=) c.3102C>T (p.Ser1034=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91272691G>C | CA390608041 | CCDC88C | c.6021C>G (p.Ser2007Arg) c.1455C>G (p.Ser485Arg) c.2249C>G c.5913C>G (p.Ser1971Arg) c.3102C>G (p.Ser1034Arg) | |
14 | g.91272691G= | CA2154900112 | CCDC88C | c.6021C= (p.Ser2007=) c.1455C= (p.Ser485=) c.2249C= c.5913C= (p.Ser1971=) c.3102C= (p.Ser1034=) | |
14 | g.91272691G>T | CA390608042 | CCDC88C | c.6021C>A (p.Ser2007Arg) c.1455C>A (p.Ser485Arg) c.2249C>A c.5913C>A (p.Ser1971Arg) c.3102C>A (p.Ser1034Arg) | |
14 | g.91272692C>A | CA390608043 | CCDC88C | c.6020G>T (p.Ser2007Ile) c.1454G>T (p.Ser485Ile) c.2248G>T c.5912G>T (p.Ser1971Ile) c.3101G>T (p.Ser1034Ile) | |
14 | g.91272692C>G | CA390608044 | CCDC88C | c.6020G>C (p.Ser2007Thr) c.1454G>C (p.Ser485Thr) c.2248G>C c.5912G>C (p.Ser1971Thr) c.3101G>C (p.Ser1034Thr) | |
14 | g.91272692C>T | CA390608045 | CCDC88C | c.6020G>A (p.Ser2007Asn) c.1454G>A (p.Ser485Asn) c.2248G>A c.5912G>A (p.Ser1971Asn) c.3101G>A (p.Ser1034Asn) | |
14 | g.91272693T>A | CA390608046 | CCDC88C | c.6019A>T (p.Ser2007Cys) c.1453A>T (p.Ser485Cys) c.2247A>T c.5911A>T (p.Ser1971Cys) c.3100A>T (p.Ser1034Cys) | |
14 | g.91272693T>C | CA390608047 | CCDC88C | c.6019A>G (p.Ser2007Gly) c.1453A>G (p.Ser485Gly) c.2247A>G c.5911A>G (p.Ser1971Gly) c.3100A>G (p.Ser1034Gly) | |
14 | g.91272693T>G | CA390608048 | CCDC88C | c.6019A>C (p.Ser2007Arg) c.1453A>C (p.Ser485Arg) c.2247A>C c.5911A>C (p.Ser1971Arg) c.3100A>C (p.Ser1034Arg) | |
14 | g.91272694C>A | CA390608049 | CCDC88C | c.6018G>T (p.Lys2006Asn) c.1452G>T (p.Lys484Asn) c.2246G>T c.5910G>T (p.Lys1970Asn) c.3099G>T (p.Lys1033Asn) | |
14 | g.91272694C= | CA2154900121 | CCDC88C | c.6018G= (p.Lys2006=) c.1452G= (p.Lys484=) c.2246G= c.5910G= (p.Lys1970=) c.3099G= (p.Lys1033=) | |
14 | g.91272694C>G | CA390608050 | CCDC88C | c.6018G>C (p.Lys2006Asn) c.1452G>C (p.Lys484Asn) c.2246G>C c.5910G>C (p.Lys1970Asn) c.3099G>C (p.Lys1033Asn) | |
14 | g.91272694C>T | CA487828502 | CCDC88C | c.6018G>A (p.Lys2006=) c.1452G>A (p.Lys484=) c.2246G>A c.5910G>A (p.Lys1970=) c.3099G>A (p.Lys1033=) | ClinVar dbSNP |
14 | g.91272694_91272696delinsCTT | CA2154900118 | CCDC88C | c.6016_6018delinsAAG (p.Lys2006=) c.1450_1452delinsAAG (p.Lys484=) c.2244_2246delinsAAG c.5908_5910delinsAAG (p.Lys1970=) c.3097_3099delinsAAG (p.Lys1033=) | |
14 | g.91272695T>A | CA390608051 | CCDC88C | c.6017A>T (p.Lys2006Met) c.1451A>T (p.Lys484Met) c.2245A>T c.5909A>T (p.Lys1970Met) c.3098A>T (p.Lys1033Met) | |
14 | g.91272695T>C | CA390608052 | CCDC88C | c.6017A>G (p.Lys2006Arg) c.1451A>G (p.Lys484Arg) c.2245A>G c.5909A>G (p.Lys1970Arg) c.3098A>G (p.Lys1033Arg) | |
14 | g.91272695T>G | CA390608053 | CCDC88C | c.6017A>C (p.Lys2006Thr) c.1451A>C (p.Lys484Thr) c.2245A>C c.5909A>C (p.Lys1970Thr) c.3098A>C (p.Lys1033Thr) | |
14 | g.91272696_91272697del | CA2154900124 | CCDC88C | c.6016_6017del (p.Lys2006GlufsTer18) c.1450_1451del (p.Lys484GlufsTer18) c.2244_2245del c.5908_5909del (p.Lys1970GlufsTer18) c.3097_3098del (p.Lys1033GlufsTer18) | ClinVar dbSNP gnomAD v4 |
14 | g.91272696T>A | CA390608056 | CCDC88C | c.6016A>T (p.Lys2006Ter) c.1450A>T (p.Lys484Ter) c.2244A>T c.5908A>T (p.Lys1970Ter) c.3097A>T (p.Lys1033Ter) | |
14 | g.91272696T>C | CA390608055 | CCDC88C | c.6016A>G (p.Lys2006Glu) c.1450A>G (p.Lys484Glu) c.2244A>G c.5908A>G (p.Lys1970Glu) c.3097A>G (p.Lys1033Glu) | gnomAD v4 |
14 | g.91272696T>G | CA390608054 | CCDC88C | c.6016A>C (p.Lys2006Gln) c.1450A>C (p.Lys484Gln) c.2244A>C c.5908A>C (p.Lys1970Gln) c.3097A>C (p.Lys1033Gln) | |
14 | g.91272697T>A | CA487828504 | CCDC88C | c.6015A>T (p.Ser2005=) c.1449A>T (p.Ser483=) c.2243A>T c.5907A>T (p.Ser1969=) c.3096A>T (p.Ser1032=) | |
14 | g.91272697T>C | CA487828505 | CCDC88C | c.6015A>G (p.Ser2005=) c.1449A>G (p.Ser483=) c.2243A>G c.5907A>G (p.Ser1969=) c.3096A>G (p.Ser1032=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272697T>G | CA487828506 | CCDC88C | c.6015A>C (p.Ser2005=) c.1449A>C (p.Ser483=) c.2243A>C c.5907A>C (p.Ser1969=) c.3096A>C (p.Ser1032=) | |
14 | g.91272697T= | CA2154900127 | CCDC88C | c.6015A= (p.Ser2005=) c.1449A= (p.Ser483=) c.2243A= c.5907A= (p.Ser1969=) c.3096A= (p.Ser1032=) | |
14 | g.91272698G>A | CA390608057 | CCDC88C | c.6014C>T (p.Ser2005Leu) c.1448C>T (p.Ser483Leu) c.2242C>T c.5906C>T (p.Ser1969Leu) c.3095C>T (p.Ser1032Leu) | |
14 | g.91272698G>C | CA390608058 | CCDC88C | c.6014C>G (p.Ser2005Ter) c.1448C>G (p.Ser483Ter) c.2242C>G c.5906C>G (p.Ser1969Ter) c.3095C>G (p.Ser1032Ter) | dbSNP gnomAD v4 |
14 | g.91272698G>T | CA390608059 | CCDC88C | c.6014C>A (p.Ser2005Ter) c.1448C>A (p.Ser483Ter) c.2242C>A c.5906C>A (p.Ser1969Ter) c.3095C>A (p.Ser1032Ter) | gnomAD v4 |
14 | g.91272699A>C | CA390608060 | CCDC88C | c.6013T>G (p.Ser2005Ala) c.1447T>G (p.Ser483Ala) c.2241T>G c.5905T>G (p.Ser1969Ala) c.3094T>G (p.Ser1032Ala) | |
14 | g.91272699A>G | CA390608061 | CCDC88C | c.6013T>C (p.Ser2005Pro) c.1447T>C (p.Ser483Pro) c.2241T>C c.5905T>C (p.Ser1969Pro) c.3094T>C (p.Ser1032Pro) | |
14 | g.91272699A>T | CA390608062 | CCDC88C | c.6013T>A (p.Ser2005Thr) c.1447T>A (p.Ser483Thr) c.2241T>A c.5905T>A (p.Ser1969Thr) c.3094T>A (p.Ser1032Thr) | |
14 | g.91272700G>A | CA487828511 | CCDC88C | c.6012C>T (p.Val2004=) c.1446C>T (p.Val482=) c.2240C>T c.5904C>T (p.Val1968=) c.3093C>T (p.Val1031=) | |
14 | g.91272700G>C | CA487828510 | CCDC88C | c.6012C>G (p.Val2004=) c.1446C>G (p.Val482=) c.2240C>G c.5904C>G (p.Val1968=) c.3093C>G (p.Val1031=) | |
14 | g.91272700G= | CA2154900134 | CCDC88C | c.6012C= (p.Val2004=) c.1446C= (p.Val482=) c.2240C= c.5904C= (p.Val1968=) c.3093C= (p.Val1031=) | |
14 | g.91272700G>T | CA7308529 | CCDC88C | c.6012C>A (p.Val2004=) c.1446C>A (p.Val482=) c.2240C>A c.5904C>A (p.Val1968=) c.3093C>A (p.Val1031=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91272701del | CA2730191728 | CCDC88C | c.6011del (p.Val2004AlafsTer?) c.1445del (p.Val482AlafsTer?) c.2239del c.5903del (p.Val1968AlafsTer?) c.3092del (p.Val1031AlafsTer?) | dbSNP |
14 | g.91272701A= | CA2154900144 | CCDC88C | c.6011T= (p.Val2004=) c.1445T= (p.Val482=) c.2239T= c.5903T= (p.Val1968=) c.3092T= (p.Val1031=) | |
14 | g.91272701A>C | CA390608063 | CCDC88C | c.6011T>G (p.Val2004Gly) c.1445T>G (p.Val482Gly) c.2239T>G c.5903T>G (p.Val1968Gly) c.3092T>G (p.Val1031Gly) | |
14 | g.91272701A>G | CA7308530 | CCDC88C | c.6011T>C (p.Val2004Ala) c.1445T>C (p.Val482Ala) c.2239T>C c.5903T>C (p.Val1968Ala) c.3092T>C (p.Val1031Ala) | dbSNP ExAC gnomAD v3 gnomAD v4 |
14 | g.91272701A>T | CA390608064 | CCDC88C | c.6011T>A (p.Val2004Asp) c.1445T>A (p.Val482Asp) c.2239T>A c.5903T>A (p.Val1968Asp) c.3092T>A (p.Val1031Asp) | |
14 | g.91272702C>A | CA7308533 | CCDC88C | c.6010G>T (p.Val2004Phe) c.1444G>T (p.Val482Phe) c.2238G>T c.5902G>T (p.Val1968Phe) c.3091G>T (p.Val1031Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91272702C= | CA2154900150 | CCDC88C | c.6010G= (p.Val2004=) c.1444G= (p.Val482=) c.2238G= c.5902G= (p.Val1968=) c.3091G= (p.Val1031=) | |
14 | g.91272702C>G | CA7308531 | CCDC88C | c.6010G>C (p.Val2004Leu) c.1444G>C (p.Val482Leu) c.2238G>C c.5902G>C (p.Val1968Leu) c.3091G>C (p.Val1031Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272702C>T | CA7308532 | CCDC88C | c.6010G>A (p.Val2004Ile) c.1444G>A (p.Val482Ile) c.2238G>A c.5902G>A (p.Val1968Ile) c.3091G>A (p.Val1031Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
14 | g.91272703G>A | CA7308534 | CCDC88C | c.6009C>T (p.Ser2003=) c.1443C>T (p.Ser481=) c.2237C>T c.5901C>T (p.Ser1967=) c.3090C>T (p.Ser1030=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91272703G>C | CA390608066 | CCDC88C | c.6009C>G (p.Ser2003Arg) c.1443C>G (p.Ser481Arg) c.2237C>G c.5901C>G (p.Ser1967Arg) c.3090C>G (p.Ser1030Arg) | |
14 | g.91272703G= | CA2154900154 | CCDC88C | c.6009C= (p.Ser2003=) c.1443C= (p.Ser481=) c.2237C= c.5901C= (p.Ser1967=) c.3090C= (p.Ser1030=) | |
14 | g.91272703G>T | CA390608065 | CCDC88C | c.6009C>A (p.Ser2003Arg) c.1443C>A (p.Ser481Arg) c.2237C>A c.5901C>A (p.Ser1967Arg) c.3090C>A (p.Ser1030Arg) | gnomAD v4 |
14 | g.91272704C>A | CA390608068 | CCDC88C | c.6008G>T (p.Ser2003Ile) c.1442G>T (p.Ser481Ile) c.2236G>T c.5900G>T (p.Ser1967Ile) c.3089G>T (p.Ser1030Ile) | |
14 | g.91272704C= | CA2154900159 | CCDC88C | c.6008G= (p.Ser2003=) c.1442G= (p.Ser481=) c.2236G= c.5900G= (p.Ser1967=) c.3089G= (p.Ser1030=) | |
14 | g.91272704C>G | CA390608067 | CCDC88C | c.6008G>C (p.Ser2003Thr) c.1442G>C (p.Ser481Thr) c.2236G>C c.5900G>C (p.Ser1967Thr) c.3089G>C (p.Ser1030Thr) | |
14 | g.91272704C>T | CA7308535 | CCDC88C | c.6008G>A (p.Ser2003Asn) c.1442G>A (p.Ser481Asn) c.2236G>A c.5900G>A (p.Ser1967Asn) c.3089G>A (p.Ser1030Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272705T>A | CA390608069 | CCDC88C | c.6007A>T (p.Ser2003Cys) c.1441A>T (p.Ser481Cys) c.2235A>T c.5899A>T (p.Ser1967Cys) c.3088A>T (p.Ser1030Cys) | |
14 | g.91272705T>C | CA390608070 | CCDC88C | c.6007A>G (p.Ser2003Gly) c.1441A>G (p.Ser481Gly) c.2235A>G c.5899A>G (p.Ser1967Gly) c.3088A>G (p.Ser1030Gly) | |
14 | g.91272705T>G | CA390608071 | CCDC88C | c.6007A>C (p.Ser2003Arg) c.1441A>C (p.Ser481Arg) c.2235A>C c.5899A>C (p.Ser1967Arg) c.3088A>C (p.Ser1030Arg) | |
14 | g.91272706C>A | CA487828514 | CCDC88C | c.6006G>T (p.Gly2002=) c.1440G>T (p.Gly480=) c.2234G>T c.5898G>T (p.Gly1966=) c.3087G>T (p.Gly1029=) | |
14 | g.91272706C>G | CA487828516 | CCDC88C | c.6006G>C (p.Gly2002=) c.1440G>C (p.Gly480=) c.2234G>C c.5898G>C (p.Gly1966=) c.3087G>C (p.Gly1029=) | |
14 | g.91272706C>T | CA487828515 | CCDC88C | c.6006G>A (p.Gly2002=) c.1440G>A (p.Gly480=) c.2234G>A c.5898G>A (p.Gly1966=) c.3087G>A (p.Gly1029=) | gnomAD v4 |
14 | g.91272708del | CA2626127220 | CCDC88C | c.6006del (p.Ser2003AlafsTer?) c.1440del (p.Ser481AlafsTer?) c.2234del c.5898del (p.Ser1967AlafsTer?) c.3087del (p.Ser1030AlafsTer?) | gnomAD v4 |
14 | g.91272707C>A | CA390608072 | CCDC88C | c.6005G>T (p.Gly2002Val) c.1439G>T (p.Gly480Val) c.2233G>T c.5897G>T (p.Gly1966Val) c.3086G>T (p.Gly1029Val) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91272707C= | CA2154900166 | CCDC88C | c.6005G= (p.Gly2002=) c.1439G= (p.Gly480=) c.2233G= c.5897G= (p.Gly1966=) c.3086G= (p.Gly1029=) | |
14 | g.91272707C>G | CA390608073 | CCDC88C | c.6005G>C (p.Gly2002Ala) c.1439G>C (p.Gly480Ala) c.2233G>C c.5897G>C (p.Gly1966Ala) c.3086G>C (p.Gly1029Ala) | |
14 | g.91272707C>T | CA390608074 | CCDC88C | c.6005G>A (p.Gly2002Glu) c.1439G>A (p.Gly480Glu) c.2233G>A c.5897G>A (p.Gly1966Glu) c.3086G>A (p.Gly1029Glu) | |
14 | g.91272708C>A | CA390608075 | CCDC88C | c.6004G>T (p.Gly2002Trp) c.1438G>T (p.Gly480Trp) c.2232G>T c.5896G>T (p.Gly1966Trp) c.3085G>T (p.Gly1029Trp) | gnomAD v4 |
14 | g.91272708C= | CA2154900172 | CCDC88C | c.6004G= (p.Gly2002=) c.1438G= (p.Gly480=) c.2232G= c.5896G= (p.Gly1966=) c.3085G= (p.Gly1029=) | |
14 | g.91272708C>G | CA390608076 | CCDC88C | c.6004G>C (p.Gly2002Arg) c.1438G>C (p.Gly480Arg) c.2232G>C c.5896G>C (p.Gly1966Arg) c.3085G>C (p.Gly1029Arg) | |
14 | g.91272708C>T | CA390608077 | CCDC88C | c.6004G>A (p.Gly2002Arg) c.1438G>A (p.Gly480Arg) c.2232G>A c.5896G>A (p.Gly1966Arg) c.3085G>A (p.Gly1029Arg) | dbSNP |
14 | g.91272709T>A | CA487828520 | CCDC88C | c.6003A>T (p.Arg2001=) c.1437A>T (p.Arg479=) c.2231A>T c.5895A>T (p.Arg1965=) c.3084A>T (p.Arg1028=) | |
14 | g.91272709T>C | CA487828521 | CCDC88C | c.6003A>G (p.Arg2001=) c.1437A>G (p.Arg479=) c.2231A>G c.5895A>G (p.Arg1965=) c.3084A>G (p.Arg1028=) | |
14 | g.91272709T>G | CA487828522 | CCDC88C | c.6003A>C (p.Arg2001=) c.1437A>C (p.Arg479=) c.2231A>C c.5895A>C (p.Arg1965=) c.3084A>C (p.Arg1028=) | |
14 | g.91272710C>A | CA390608078 | CCDC88C | c.6002G>T (p.Arg2001Leu) c.1436G>T (p.Arg479Leu) c.2230G>T c.5894G>T (p.Arg1965Leu) c.3083G>T (p.Arg1028Leu) | gnomAD v4 |
14 | g.91272710C= | CA2154900176 | CCDC88C | c.6002G= (p.Arg2001=) c.1436G= (p.Arg479=) c.2230G= c.5894G= (p.Arg1965=) c.3083G= (p.Arg1028=) | |
14 | g.91272710C>G | CA390608079 | CCDC88C | c.6002G>C (p.Arg2001Pro) c.1436G>C (p.Arg479Pro) c.2230G>C c.5894G>C (p.Arg1965Pro) c.3083G>C (p.Arg1028Pro) | |
14 | g.91272710C>T | CA7308536 | CCDC88C | c.6002G>A (p.Arg2001Gln) c.1436G>A (p.Arg479Gln) c.2230G>A c.5894G>A (p.Arg1965Gln) c.3083G>A (p.Arg1028Gln) | dbSNP ExAC gnomAD v4 |
14 | g.91272711G>A | CA390608080 | CCDC88C | c.6001C>T (p.Arg2001Ter) c.1435C>T (p.Arg479Ter) c.2229C>T c.5893C>T (p.Arg1965Ter) c.3082C>T (p.Arg1028Ter) | ClinVar gnomAD v4 COSMIC COSMIC COSMIC |
14 | g.91272711G>C | CA7308537 | CCDC88C | c.6001C>G (p.Arg2001Gly) c.1435C>G (p.Arg479Gly) c.2229C>G c.5893C>G (p.Arg1965Gly) c.3082C>G (p.Arg1028Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91272711G= | CA2154900180 | CCDC88C | c.6001C= (p.Arg2001=) c.1435C= (p.Arg479=) c.2229C= c.5893C= (p.Arg1965=) c.3082C= (p.Arg1028=) | |
14 | g.91272711G>T | CA487828525 | CCDC88C | c.6001C>A (p.Arg2001=) c.1435C>A (p.Arg479=) c.2229C>A c.5893C>A (p.Arg1965=) c.3082C>A (p.Arg1028=) | gnomAD v4 |
14 | g.91272712A>C | CA390608081 | CCDC88C | c.6000T>G (p.Ser2000Arg) c.1434T>G (p.Ser478Arg) c.2228T>G c.5892T>G (p.Ser1964Arg) c.3081T>G (p.Ser1027Arg) | |
14 | g.91272712A>G | CA487828528 | CCDC88C | c.6000T>C (p.Ser2000=) c.1434T>C (p.Ser478=) c.2228T>C c.5892T>C (p.Ser1964=) c.3081T>C (p.Ser1027=) | gnomAD v4 |
14 | g.91272712A>T | CA390608082 | CCDC88C | c.6000T>A (p.Ser2000Arg) c.1434T>A (p.Ser478Arg) c.2228T>A c.5892T>A (p.Ser1964Arg) c.3081T>A (p.Ser1027Arg) | |
14 | g.91272712_91272713delinsAC | CA2154900186 | CCDC88C | c.5999_6000delinsGT (p.Ser2000=) c.1433_1434delinsGT (p.Ser478=) c.2227_2228delinsGT c.5891_5892delinsGT (p.Ser1964=) c.3080_3081delinsGT (p.Ser1027=) | |
14 | g.91272713del | CA709860298 | CCDC88C | c.5999del (p.Ser2000IlefsTer?) c.1433del (p.Ser478IlefsTer?) c.2227del c.5891del (p.Ser1964IlefsTer?) c.3080del (p.Ser1027IlefsTer?) | dbSNP |
14 | g.91272713C>A | CA390608083 | CCDC88C | c.5999G>T (p.Ser2000Ile) c.1433G>T (p.Ser478Ile) c.2227G>T c.5891G>T (p.Ser1964Ile) c.3080G>T (p.Ser1027Ile) | |
14 | g.91272713C>G | CA390608084 | CCDC88C | c.5999G>C (p.Ser2000Thr) c.1433G>C (p.Ser478Thr) c.2227G>C c.5891G>C (p.Ser1964Thr) c.3080G>C (p.Ser1027Thr) | |
14 | g.91272713C>T | CA390608085 | CCDC88C | c.5999G>A (p.Ser2000Asn) c.1433G>A (p.Ser478Asn) c.2227G>A c.5891G>A (p.Ser1964Asn) c.3080G>A (p.Ser1027Asn) | |
14 | g.91272714T>A | CA390608086 | CCDC88C | c.5998A>T (p.Ser2000Cys) c.1432A>T (p.Ser478Cys) c.2226A>T c.5890A>T (p.Ser1964Cys) c.3079A>T (p.Ser1027Cys) | |
14 | g.91272714T>C | CA390608087 | CCDC88C | c.5998A>G (p.Ser2000Gly) c.1432A>G (p.Ser478Gly) c.2226A>G c.5890A>G (p.Ser1964Gly) c.3079A>G (p.Ser1027Gly) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91272714T>G | CA390608088 | CCDC88C | c.5998A>C (p.Ser2000Arg) c.1432A>C (p.Ser478Arg) c.2226A>C c.5890A>C (p.Ser1964Arg) c.3079A>C (p.Ser1027Arg) | |
14 | g.91272714T= | CA2154900194 | CCDC88C | c.5998A= (p.Ser2000=) c.1432A= (p.Ser478=) c.2226A= c.5890A= (p.Ser1964=) c.3079A= (p.Ser1027=) | |
14 | g.91272715G>A | CA487828530 | CCDC88C | c.5997C>T (p.Cys1999=) c.1431C>T (p.Cys477=) c.2225C>T c.5889C>T (p.Cys1963=) c.3078C>T (p.Cys1026=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.91272715G>C | CA390608089 | CCDC88C | c.5997C>G (p.Cys1999Trp) c.1431C>G (p.Cys477Trp) c.2225C>G c.5889C>G (p.Cys1963Trp) c.3078C>G (p.Cys1026Trp) | gnomAD v4 |
14 | g.91272715G= | CA2154900202 | CCDC88C | c.5997C= (p.Cys1999=) c.1431C= (p.Cys477=) c.2225C= c.5889C= (p.Cys1963=) c.3078C= (p.Cys1026=) | |
14 | g.91272715G>T | CA390608090 | CCDC88C | c.5997C>A (p.Cys1999Ter) c.1431C>A (p.Cys477Ter) c.2225C>A c.5889C>A (p.Cys1963Ter) c.3078C>A (p.Cys1026Ter) | gnomAD v4 |
14 | g.91272716C>A | CA390608091 | CCDC88C | c.5996G>T (p.Cys1999Phe) c.1430G>T (p.Cys477Phe) c.2224G>T c.5888G>T (p.Cys1963Phe) c.3077G>T (p.Cys1026Phe) | |
14 | g.91272716C= | CA2154900207 | CCDC88C | c.5996G= (p.Cys1999=) c.1430G= (p.Cys477=) c.2224G= c.5888G= (p.Cys1963=) c.3077G= (p.Cys1026=) | |
14 | g.91272716C>G | CA390608092 | CCDC88C | c.5996G>C (p.Cys1999Ser) c.1430G>C (p.Cys477Ser) c.2224G>C c.5888G>C (p.Cys1963Ser) c.3077G>C (p.Cys1026Ser) | |
14 | g.91272716C>T | CA390608093 | CCDC88C | c.5996G>A (p.Cys1999Tyr) c.1430G>A (p.Cys477Tyr) c.2224G>A c.5888G>A (p.Cys1963Tyr) c.3077G>A (p.Cys1026Tyr) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91272717A>C | CA390608095 | CCDC88C | c.5995T>G (p.Cys1999Gly) c.1429T>G (p.Cys477Gly) c.2223T>G c.5887T>G (p.Cys1963Gly) c.3076T>G (p.Cys1026Gly) | |
14 | g.91272717A>G | CA390608096 | CCDC88C | c.5995T>C (p.Cys1999Arg) c.1429T>C (p.Cys477Arg) c.2223T>C c.5887T>C (p.Cys1963Arg) c.3076T>C (p.Cys1026Arg) | gnomAD v4 |
14 | g.91272717A>T | CA390608094 | CCDC88C | c.5995T>A (p.Cys1999Ser) c.1429T>A (p.Cys477Ser) c.2223T>A c.5887T>A (p.Cys1963Ser) c.3076T>A (p.Cys1026Ser) | |
14 | g.91272718G>A | CA487828531 | CCDC88C | c.5994C>T (p.Asp1998=) c.1428C>T (p.Asp476=) c.2222C>T c.5886C>T (p.Asp1962=) c.3075C>T (p.Asp1025=) | gnomAD v4 |
14 | g.91272718G>C | CA7308538 | CCDC88C | c.5994C>G (p.Asp1998Glu) c.1428C>G (p.Asp476Glu) c.2222C>G c.5886C>G (p.Asp1962Glu) c.3075C>G (p.Asp1025Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272718G= | CA2154900211 | CCDC88C | c.5994C= (p.Asp1998=) c.1428C= (p.Asp476=) c.2222C= c.5886C= (p.Asp1962=) c.3075C= (p.Asp1025=) | |
14 | g.91272718G>T | CA390608097 | CCDC88C | c.5994C>A (p.Asp1998Glu) c.1428C>A (p.Asp476Glu) c.2222C>A c.5886C>A (p.Asp1962Glu) c.3075C>A (p.Asp1025Glu) | gnomAD v4 |
14 | g.91272719T>A | CA390608098 | CCDC88C | c.5993A>T (p.Asp1998Val) c.1427A>T (p.Asp476Val) c.2221A>T c.5885A>T (p.Asp1962Val) c.3074A>T (p.Asp1025Val) | |
14 | g.91272719T>C | CA390608100 | CCDC88C | c.5993A>G (p.Asp1998Gly) c.1427A>G (p.Asp476Gly) c.2221A>G c.5885A>G (p.Asp1962Gly) c.3074A>G (p.Asp1025Gly) | |
14 | g.91272719T>G | CA390608099 | CCDC88C | c.5993A>C (p.Asp1998Ala) c.1427A>C (p.Asp476Ala) c.2221A>C c.5885A>C (p.Asp1962Ala) c.3074A>C (p.Asp1025Ala) | |
14 | g.91272720C>A | CA390608101 | CCDC88C | c.5992G>T (p.Asp1998Tyr) c.1426G>T (p.Asp476Tyr) c.2220G>T c.5884G>T (p.Asp1962Tyr) c.3073G>T (p.Asp1025Tyr) | gnomAD v4 |
14 | g.91272720C>G | CA390608102 | CCDC88C | c.5992G>C (p.Asp1998His) c.1426G>C (p.Asp476His) c.2220G>C c.5884G>C (p.Asp1962His) c.3073G>C (p.Asp1025His) | |
14 | g.91272720C>T | CA390608103 | CCDC88C | c.5992G>A (p.Asp1998Asn) c.1426G>A (p.Asp476Asn) c.2220G>A c.5884G>A (p.Asp1962Asn) c.3073G>A (p.Asp1025Asn) | COSMIC COSMIC COSMIC |
14 | g.91272721C>A | CA390608104 | CCDC88C | c.5991G>T (p.Glu1997Asp) c.1425G>T (p.Glu475Asp) c.2219G>T c.5883G>T (p.Glu1961Asp) c.3072G>T (p.Glu1024Asp) | gnomAD v4 |
14 | g.91272721C= | CA2154900218 | CCDC88C | c.5991G= (p.Glu1997=) c.1425G= (p.Glu475=) c.2219G= c.5883G= (p.Glu1961=) c.3072G= (p.Glu1024=) | |
14 | g.91272721C>G | CA390608105 | CCDC88C | c.5991G>C (p.Glu1997Asp) c.1425G>C (p.Glu475Asp) c.2219G>C c.5883G>C (p.Glu1961Asp) c.3072G>C (p.Glu1024Asp) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91272721C>T | CA487828534 | CCDC88C | c.5991G>A (p.Glu1997=) c.1425G>A (p.Glu475=) c.2219G>A c.5883G>A (p.Glu1961=) c.3072G>A (p.Glu1024=) | gnomAD v4 |
14 | g.91272722T>A | CA390608108 | CCDC88C | c.5990A>T (p.Glu1997Val) c.1424A>T (p.Glu475Val) c.2218A>T c.5882A>T (p.Glu1961Val) c.3071A>T (p.Glu1024Val) | |
14 | g.91272722T>C | CA390608113 | CCDC88C | c.5990A>G (p.Glu1997Gly) c.1424A>G (p.Glu475Gly) c.2218A>G c.5882A>G (p.Glu1961Gly) c.3071A>G (p.Glu1024Gly) | gnomAD v4 |
14 | g.91272722T>G | CA390608114 | CCDC88C | c.5990A>C (p.Glu1997Ala) c.1424A>C (p.Glu475Ala) c.2218A>C c.5882A>C (p.Glu1961Ala) c.3071A>C (p.Glu1024Ala) | |
14 | g.91272723C>A | CA390608115 | CCDC88C | c.5989G>T (p.Glu1997Ter) c.1423G>T (p.Glu475Ter) c.2217G>T c.5881G>T (p.Glu1961Ter) c.3070G>T (p.Glu1024Ter) | gnomAD v4 |
14 | g.91272723C>G | CA390608116 | CCDC88C | c.5989G>C (p.Glu1997Gln) c.1423G>C (p.Glu475Gln) c.2217G>C c.5881G>C (p.Glu1961Gln) c.3070G>C (p.Glu1024Gln) | |
14 | g.91272723C>T | CA390608117 | CCDC88C | c.5989G>A (p.Glu1997Lys) c.1423G>A (p.Glu475Lys) c.2217G>A c.5881G>A (p.Glu1961Lys) c.3070G>A (p.Glu1024Lys) | |
14 | g.91272724C>A | CA487828537 | CCDC88C | c.5988G>T (p.Leu1996=) c.1422G>T (p.Leu474=) c.2216G>T c.5880G>T (p.Leu1960=) c.3069G>T (p.Leu1023=) | |
14 | g.91272724C= | CA2154900221 | CCDC88C | c.5988G= (p.Leu1996=) c.1422G= (p.Leu474=) c.2216G= c.5880G= (p.Leu1960=) c.3069G= (p.Leu1023=) | |
14 | g.91272724C>G | CA487828538 | CCDC88C | c.5988G>C (p.Leu1996=) c.1422G>C (p.Leu474=) c.2216G>C c.5880G>C (p.Leu1960=) c.3069G>C (p.Leu1023=) | |
14 | g.91272724C>T | CA487828540 | CCDC88C | c.5988G>A (p.Leu1996=) c.1422G>A (p.Leu474=) c.2216G>A c.5880G>A (p.Leu1960=) c.3069G>A (p.Leu1023=) | ClinVar dbSNP gnomAD v4 |
14 | g.91272725A= | CA2154900224 | CCDC88C | c.5987T= (p.Leu1996=) c.1421T= (p.Leu474=) c.2215T= c.5879T= (p.Leu1960=) c.3068T= (p.Leu1023=) | |
14 | g.91272725A>C | CA390608120 | CCDC88C | c.5987T>G (p.Leu1996Arg) c.1421T>G (p.Leu474Arg) c.2215T>G c.5879T>G (p.Leu1960Arg) c.3068T>G (p.Leu1023Arg) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91272725A>G | CA390608118 | CCDC88C | c.5987T>C (p.Leu1996Pro) c.1421T>C (p.Leu474Pro) c.2215T>C c.5879T>C (p.Leu1960Pro) c.3068T>C (p.Leu1023Pro) | |
14 | g.91272725A>T | CA390608119 | CCDC88C | c.5987T>A (p.Leu1996Gln) c.1421T>A (p.Leu474Gln) c.2215T>A c.5879T>A (p.Leu1960Gln) c.3068T>A (p.Leu1023Gln) | |
14 | g.91272726G>A | CA487828541 | CCDC88C | c.5986C>T (p.Leu1996=) c.1420C>T (p.Leu474=) c.2214C>T c.5878C>T (p.Leu1960=) c.3067C>T (p.Leu1023=) | gnomAD v4 |
14 | g.91272726G>C | CA390608121 | CCDC88C | c.5986C>G (p.Leu1996Val) c.1420C>G (p.Leu474Val) c.2214C>G c.5878C>G (p.Leu1960Val) c.3067C>G (p.Leu1023Val) | dbSNP |
14 | g.91272726G= | CA2154900226 | CCDC88C | c.5986C= (p.Leu1996=) c.1420C= (p.Leu474=) c.2214C= c.5878C= (p.Leu1960=) c.3067C= (p.Leu1023=) | |
14 | g.91272726G>T | CA390608122 | CCDC88C | c.5986C>A (p.Leu1996Met) c.1420C>A (p.Leu474Met) c.2214C>A c.5878C>A (p.Leu1960Met) c.3067C>A (p.Leu1023Met) | gnomAD v4 |
14 | g.91272728dup | CA2841354262 | CCDC88C | c.5986dup (p.Leu1996ProfsTer29) c.1420dup (p.Leu474ProfsTer29) c.2214dup c.5878dup (p.Leu1960ProfsTer29) c.3067dup (p.Leu1023ProfsTer29) | |
14 | g.91272727G>A | CA487828544 | CCDC88C | c.5985C>T (p.Ala1995=) c.1419C>T (p.Ala473=) c.2213C>T c.5877C>T (p.Ala1959=) c.3066C>T (p.Ala1022=) | |
14 | g.91272727G>C | CA487828543 | CCDC88C | c.5985C>G (p.Ala1995=) c.1419C>G (p.Ala473=) c.2213C>G c.5877C>G (p.Ala1959=) c.3066C>G (p.Ala1022=) | |
14 | g.91272727G>T | CA487828542 | CCDC88C | c.5985C>A (p.Ala1995=) c.1419C>A (p.Ala473=) c.2213C>A c.5877C>A (p.Ala1959=) c.3066C>A (p.Ala1022=) | gnomAD v4 |
14 | g.91272728G>A | CA390608123 | CCDC88C | c.5984C>T (p.Ala1995Val) c.1418C>T (p.Ala473Val) c.2212C>T c.5876C>T (p.Ala1959Val) c.3065C>T (p.Ala1022Val) | gnomAD v4 |
14 | g.91272728G>C | CA390608124 | CCDC88C | c.5984C>G (p.Ala1995Gly) c.1418C>G (p.Ala473Gly) c.2212C>G c.5876C>G (p.Ala1959Gly) c.3065C>G (p.Ala1022Gly) | |
14 | g.91272728G>T | CA390608125 | CCDC88C | c.5984C>A (p.Ala1995Asp) c.1418C>A (p.Ala473Asp) c.2212C>A c.5876C>A (p.Ala1959Asp) c.3065C>A (p.Ala1022Asp) | gnomAD v4 |
14 | g.91272729C>A | CA7308539 | CCDC88C | c.5983G>T (p.Ala1995Ser) c.1417G>T (p.Ala473Ser) c.2211G>T c.5875G>T (p.Ala1959Ser) c.3064G>T (p.Ala1022Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272729C= | CA2154900230 | CCDC88C | c.5983G= (p.Ala1995=) c.1417G= (p.Ala473=) c.2211G= c.5875G= (p.Ala1959=) c.3064G= (p.Ala1022=) | |
14 | g.91272729C>G | CA390608126 | CCDC88C | c.5983G>C (p.Ala1995Pro) c.1417G>C (p.Ala473Pro) c.2211G>C c.5875G>C (p.Ala1959Pro) c.3064G>C (p.Ala1022Pro) | |
14 | g.91272729C>T | CA390608127 | CCDC88C | c.5983G>A (p.Ala1995Thr) c.1417G>A (p.Ala473Thr) c.2211G>A c.5875G>A (p.Ala1959Thr) c.3064G>A (p.Ala1022Thr) | gnomAD v4 COSMIC COSMIC COSMIC |
14 | g.91272730C>A | CA487828545 | CCDC88C | c.5982G>T (p.Arg1994=) c.1416G>T (p.Arg472=) c.2210G>T c.5874G>T (p.Arg1958=) c.3063G>T (p.Arg1021=) | |
14 | g.91272730C>G | CA487828546 | CCDC88C | c.5982G>C (p.Arg1994=) c.1416G>C (p.Arg472=) c.2210G>C c.5874G>C (p.Arg1958=) c.3063G>C (p.Arg1021=) | |
14 | g.91272730C>T | CA487828547 | CCDC88C | c.5982G>A (p.Arg1994=) c.1416G>A (p.Arg472=) c.2210G>A c.5874G>A (p.Arg1958=) c.3063G>A (p.Arg1021=) | gnomAD v4 |
14 | g.91272731C>A | CA7308540 | CCDC88C | c.5981G>T (p.Arg1994Leu) c.1415G>T (p.Arg472Leu) c.2209G>T c.5873G>T (p.Arg1958Leu) c.3062G>T (p.Arg1021Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272731C= | CA2154900233 | CCDC88C | c.5981G= (p.Arg1994=) c.1415G= (p.Arg472=) c.2209G= c.5873G= (p.Arg1958=) c.3062G= (p.Arg1021=) | |
14 | g.91272731C>G | CA390608128 | CCDC88C | c.5981G>C (p.Arg1994Pro) c.1415G>C (p.Arg472Pro) c.2209G>C c.5873G>C (p.Arg1958Pro) c.3062G>C (p.Arg1021Pro) | |
14 | g.91272731C>T | CA7308541 | CCDC88C | c.5981G>A (p.Arg1994Gln) c.1415G>A (p.Arg472Gln) c.2209G>A c.5873G>A (p.Arg1958Gln) c.3062G>A (p.Arg1021Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272732G>A | CA7308542 | CCDC88C | c.5980C>T (p.Arg1994Trp) c.1414C>T (p.Arg472Trp) c.2208C>T c.5872C>T (p.Arg1958Trp) c.3061C>T (p.Arg1021Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272732G>C | CA171546 | CCDC88C | c.5980C>G (p.Arg1994Gly) c.1414C>G (p.Arg472Gly) c.2208C>G c.5872C>G (p.Arg1958Gly) c.3061C>G (p.Arg1021Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272732G= | CA2154900237 | CCDC88C | c.5980C= (p.Arg1994=) c.1414C= (p.Arg472=) c.2208C= c.5872C= (p.Arg1958=) c.3061C= (p.Arg1021=) | |
14 | g.91272732G>T | CA487828549 | CCDC88C | c.5980C>A (p.Arg1994=) c.1414C>A (p.Arg472=) c.2208C>A c.5872C>A (p.Arg1958=) c.3061C>A (p.Arg1021=) | ClinVar gnomAD v4 |
14 | g.91272733G>A | CA487828550 | CCDC88C | c.5979C>T (p.Gly1993=) c.1413C>T (p.Gly471=) c.2207C>T c.5871C>T (p.Gly1957=) c.3060C>T (p.Gly1020=) | |
14 | g.91272733G>C | CA487828552 | CCDC88C | c.5979C>G (p.Gly1993=) c.1413C>G (p.Gly471=) c.2207C>G c.5871C>G (p.Gly1957=) c.3060C>G (p.Gly1020=) | |
14 | g.91272733G>T | CA487828551 | CCDC88C | c.5979C>A (p.Gly1993=) c.1413C>A (p.Gly471=) c.2207C>A c.5871C>A (p.Gly1957=) c.3060C>A (p.Gly1020=) | gnomAD v4 |
14 | g.91272734C>A | CA390608129 | CCDC88C | c.5978G>T (p.Gly1993Val) c.1412G>T (p.Gly471Val) c.2206G>T c.5870G>T (p.Gly1957Val) c.3059G>T (p.Gly1020Val) | |
14 | g.91272734C>G | CA390608130 | CCDC88C | c.5978G>C (p.Gly1993Ala) c.1412G>C (p.Gly471Ala) c.2206G>C c.5870G>C (p.Gly1957Ala) c.3059G>C (p.Gly1020Ala) | |
14 | g.91272734C>T | CA390608131 | CCDC88C | c.5978G>A (p.Gly1993Asp) c.1412G>A (p.Gly471Asp) c.2206G>A c.5870G>A (p.Gly1957Asp) c.3059G>A (p.Gly1020Asp) | gnomAD v4 |
14 | g.91272735C>A | CA390608132 | CCDC88C | c.5977G>T (p.Gly1993Cys) c.1411G>T (p.Gly471Cys) c.2205G>T c.5869G>T (p.Gly1957Cys) c.3058G>T (p.Gly1020Cys) | gnomAD v4 |
14 | g.91272735C= | CA2154900243 | CCDC88C | c.5977G= (p.Gly1993=) c.1411G= (p.Gly471=) c.2205G= c.5869G= (p.Gly1957=) c.3058G= (p.Gly1020=) | |
14 | g.91272735C>G | CA390608133 | CCDC88C | c.5977G>C (p.Gly1993Arg) c.1411G>C (p.Gly471Arg) c.2205G>C c.5869G>C (p.Gly1957Arg) c.3058G>C (p.Gly1020Arg) | |
14 | g.91272735C>T | CA7308543 | CCDC88C | c.5977G>A (p.Gly1993Ser) c.1411G>A (p.Gly471Ser) c.2205G>A c.5869G>A (p.Gly1957Ser) c.3058G>A (p.Gly1020Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272736G>A | CA7308544 | CCDC88C | c.5976C>T (p.Leu1992=) c.1410C>T (p.Leu470=) c.2204C>T c.5868C>T (p.Leu1956=) c.3057C>T (p.Leu1019=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272736G>C | CA487828556 | CCDC88C | c.5976C>G (p.Leu1992=) c.1410C>G (p.Leu470=) c.2204C>G c.5868C>G (p.Leu1956=) c.3057C>G (p.Leu1019=) | |
14 | g.91272736G= | CA2154900250 | CCDC88C | c.5976C= (p.Leu1992=) c.1410C= (p.Leu470=) c.2204C= c.5868C= (p.Leu1956=) c.3057C= (p.Leu1019=) | |
14 | g.91272736G>T | CA487828557 | CCDC88C | c.5976C>A (p.Leu1992=) c.1410C>A (p.Leu470=) c.2204C>A c.5868C>A (p.Leu1956=) c.3057C>A (p.Leu1019=) | dbSNP gnomAD v4 |
14 | g.91272736_91272737delinsAG | CA658658267 | CCDC88C | c.5975_5976delinsCT (p.Leu1992Pro) c.1409_1410delinsCT (p.Leu470Pro) c.2203_2204delinsCT c.5867_5868delinsCT (p.Leu1956Pro) c.3056_3057delinsCT (p.Leu1019Pro) | ClinVar dbSNP |
14 | g.91272736_91272737delinsCG | CA2739278569 | CCDC88C | c.5975_5976delinsCG (p.Leu1992Pro) c.1409_1410delinsCG (p.Leu470Pro) c.2203_2204delinsCG c.5867_5868delinsCG (p.Leu1956Pro) c.3056_3057delinsCG (p.Leu1019Pro) | ClinVar |
14 | g.91272736_91272737delinsGA | CA2154900253 | CCDC88C | c.5975_5976delinsTC (p.Leu1992=) c.1409_1410delinsTC (p.Leu470=) c.2203_2204delinsTC c.5867_5868delinsTC (p.Leu1956=) c.3056_3057delinsTC (p.Leu1019=) | |
14 | g.91272737del | CA2626127260 | CCDC88C | c.5975del (p.Leu1992ProfsTer?) c.1409del (p.Leu470ProfsTer?) c.2203del c.5867del (p.Leu1956ProfsTer?) c.3056del (p.Leu1019ProfsTer?) | gnomAD v4 |
14 | g.91272737A= | CA2154900256 | CCDC88C | c.5975T= (p.Leu1992=) c.1409T= (p.Leu470=) c.2203T= c.5867T= (p.Leu1956=) c.3056T= (p.Leu1019=) | |
14 | g.91272737A>C | CA390608134 | CCDC88C | c.5975T>G (p.Leu1992Arg) c.1409T>G (p.Leu470Arg) c.2203T>G c.5867T>G (p.Leu1956Arg) c.3056T>G (p.Leu1019Arg) | |
14 | g.91272737A>G | CA171544 | CCDC88C | c.5975T>C (p.Leu1992Pro) c.1409T>C (p.Leu470Pro) c.2203T>C c.5867T>C (p.Leu1956Pro) c.3056T>C (p.Leu1019Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272737A>T | CA390608135 | CCDC88C | c.5975T>A (p.Leu1992His) c.1409T>A (p.Leu470His) c.2203T>A c.5867T>A (p.Leu1956His) c.3056T>A (p.Leu1019His) | dbSNP gnomAD v4 |
14 | g.91272738G>A | CA390608136 | CCDC88C | c.5974C>T (p.Leu1992Phe) c.1408C>T (p.Leu470Phe) c.2202C>T c.5866C>T (p.Leu1956Phe) c.3055C>T (p.Leu1019Phe) | |
14 | g.91272738G>C | CA390608137 | CCDC88C | c.5974C>G (p.Leu1992Val) c.1408C>G (p.Leu470Val) c.2202C>G c.5866C>G (p.Leu1956Val) c.3055C>G (p.Leu1019Val) | gnomAD v4 |
14 | g.91272738G>T | CA390608138 | CCDC88C | c.5974C>A (p.Leu1992Ile) c.1408C>A (p.Leu470Ile) c.2202C>A c.5866C>A (p.Leu1956Ile) c.3055C>A (p.Leu1019Ile) | gnomAD v4 |
14 | g.91272739G>A | CA487828560 | CCDC88C | c.5973C>T (p.His1991=) c.1407C>T (p.His469=) c.2201C>T c.5865C>T (p.His1955=) c.3054C>T (p.His1018=) | gnomAD v4 |
14 | g.91272739G>C | CA390608140 | CCDC88C | c.5973C>G (p.His1991Gln) c.1407C>G (p.His469Gln) c.2201C>G c.5865C>G (p.His1955Gln) c.3054C>G (p.His1018Gln) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91272739G= | CA2154900260 | CCDC88C | c.5973C= (p.His1991=) c.1407C= (p.His469=) c.2201C= c.5865C= (p.His1955=) c.3054C= (p.His1018=) | |
14 | g.91272739G>T | CA390608139 | CCDC88C | c.5973C>A (p.His1991Gln) c.1407C>A (p.His469Gln) c.2201C>A c.5865C>A (p.His1955Gln) c.3054C>A (p.His1018Gln) | gnomAD v4 |
14 | g.91272740T>A | CA265517249 | CCDC88C | c.5972A>T (p.His1991Leu) c.1406A>T (p.His469Leu) c.2200A>T c.5864A>T (p.His1955Leu) c.3053A>T (p.His1018Leu) | dbSNP gnomAD v4 |
14 | g.91272740T>C | CA390608141 | CCDC88C | c.5972A>G (p.His1991Arg) c.1406A>G (p.His469Arg) c.2200A>G c.5864A>G (p.His1955Arg) c.3053A>G (p.His1018Arg) | |
14 | g.91272740T>G | CA7308545 | CCDC88C | c.5972A>C (p.His1991Pro) c.1406A>C (p.His469Pro) c.2200A>C c.5864A>C (p.His1955Pro) c.3053A>C (p.His1018Pro) | dbSNP ExAC gnomAD v2 |
14 | g.91272740T= | CA2154900265 | CCDC88C | c.5972A= (p.His1991=) c.1406A= (p.His469=) c.2200A= c.5864A= (p.His1955=) c.3053A= (p.His1018=) | |
14 | g.91272741G>A | CA390608142 | CCDC88C | c.5971C>T (p.His1991Tyr) c.1405C>T (p.His469Tyr) c.2199C>T c.5863C>T (p.His1955Tyr) c.3052C>T (p.His1018Tyr) | dbSNP gnomAD v4 |
14 | g.91272741G>C | CA390608143 | CCDC88C | c.5971C>G (p.His1991Asp) c.1405C>G (p.His469Asp) c.2199C>G c.5863C>G (p.His1955Asp) c.3052C>G (p.His1018Asp) | dbSNP |
14 | g.91272741G= | CA2154900269 | CCDC88C | c.5971C= (p.His1991=) c.1405C= (p.His469=) c.2199C= c.5863C= (p.His1955=) c.3052C= (p.His1018=) | |
14 | g.91272741G>T | CA390608144 | CCDC88C | c.5971C>A (p.His1991Asn) c.1405C>A (p.His469Asn) c.2199C>A c.5863C>A (p.His1955Asn) c.3052C>A (p.His1018Asn) | |
14 | g.91272744del | CA2626127261 | CCDC88C | c.5971del (p.His1991ThrfsTer?) c.1405del (p.His469ThrfsTer?) c.2199del c.5863del (p.His1955ThrfsTer?) c.3052del (p.His1018ThrfsTer?) | gnomAD v4 |
14 | g.91272743_91272744del | CA2525990980 | CCDC88C | c.5970_5971del (p.His1991ProfsTer?) c.1404_1405del (p.His469ProfsTer?) c.2198_2199del c.5862_5863del (p.His1955ProfsTer?) c.3051_3052del (p.His1018ProfsTer?) | |
14 | g.91272742G>A | CA7308547 | CCDC88C | c.5970C>T (p.Pro1990=) c.1404C>T (p.Pro468=) c.2198C>T c.5862C>T (p.Pro1954=) c.3051C>T (p.Pro1017=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272742G>C | CA487828563 | CCDC88C | c.5970C>G (p.Pro1990=) c.1404C>G (p.Pro468=) c.2198C>G c.5862C>G (p.Pro1954=) c.3051C>G (p.Pro1017=) | |
14 | g.91272742G= | CA2154900274 | CCDC88C | c.5970C= (p.Pro1990=) c.1404C= (p.Pro468=) c.2198C= c.5862C= (p.Pro1954=) c.3051C= (p.Pro1017=) | |
14 | g.91272742G>T | CA7308546 | CCDC88C | c.5970C>A (p.Pro1990=) c.1404C>A (p.Pro468=) c.2198C>A c.5862C>A (p.Pro1954=) c.3051C>A (p.Pro1017=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91272743G>A | CA390608145 | CCDC88C | c.5969C>T (p.Pro1990Leu) c.1403C>T (p.Pro468Leu) c.2197C>T c.5861C>T (p.Pro1954Leu) c.3050C>T (p.Pro1017Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272743G>C | CA390608146 | CCDC88C | c.5969C>G (p.Pro1990Arg) c.1403C>G (p.Pro468Arg) c.2197C>G c.5861C>G (p.Pro1954Arg) c.3050C>G (p.Pro1017Arg) | gnomAD v4 |
14 | g.91272743G= | CA2154900281 | CCDC88C | c.5969C= (p.Pro1990=) c.1403C= (p.Pro468=) c.2197C= c.5861C= (p.Pro1954=) c.3050C= (p.Pro1017=) | |
14 | g.91272743G>T | CA390608147 | CCDC88C | c.5969C>A (p.Pro1990His) c.1403C>A (p.Pro468His) c.2197C>A c.5861C>A (p.Pro1954His) c.3050C>A (p.Pro1017His) | gnomAD v4 |
14 | g.91272744G>A | CA7308548 | CCDC88C | c.5968C>T (p.Pro1990Ser) c.1402C>T (p.Pro468Ser) c.2196C>T c.5860C>T (p.Pro1954Ser) c.3049C>T (p.Pro1017Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91272744G>C | CA390608150 | CCDC88C | c.5968C>G (p.Pro1990Ala) c.1402C>G (p.Pro468Ala) c.2196C>G c.5860C>G (p.Pro1954Ala) c.3049C>G (p.Pro1017Ala) | |
14 | g.91272744G= | CA2154900294 | CCDC88C | c.5968C= (p.Pro1990=) c.1402C= (p.Pro468=) c.2196C= c.5860C= (p.Pro1954=) c.3049C= (p.Pro1017=) | |
14 | g.91272744G>T | CA390608152 | CCDC88C | c.5968C>A (p.Pro1990Thr) c.1402C>A (p.Pro468Thr) c.2196C>A c.5860C>A (p.Pro1954Thr) c.3049C>A (p.Pro1017Thr) | gnomAD v4 |
14 | g.91272744_91272745delinsGA | CA2154900292 | CCDC88C | c.5967_5968delinsTC (p.Ala1989=) c.1401_1402delinsTC (p.Ala467=) c.2195_2196delinsTC c.5859_5860delinsTC (p.Ala1953=) c.3048_3049delinsTC (p.Ala1016=) | |
14 | g.91272745del | CA965920862 | CCDC88C | c.5967del (p.His1991ThrfsTer?) c.1401del (p.His469ThrfsTer?) c.2195del c.5859del (p.His1955ThrfsTer?) c.3048del (p.His1018ThrfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91272745A= | CA2154900301 | CCDC88C | c.5967T= (p.Ala1989=) c.1401T= (p.Ala467=) c.2195T= c.5859T= (p.Ala1953=) c.3048T= (p.Ala1016=) | |
14 | g.91272745A>C | CA487828566 | CCDC88C | c.5967T>G (p.Ala1989=) c.1401T>G (p.Ala467=) c.2195T>G c.5859T>G (p.Ala1953=) c.3048T>G (p.Ala1016=) | dbSNP |
14 | g.91272745A>G | CA487828567 | CCDC88C | c.5967T>C (p.Ala1989=) c.1401T>C (p.Ala467=) c.2195T>C c.5859T>C (p.Ala1953=) c.3048T>C (p.Ala1016=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91272745A>T | CA487828568 | CCDC88C | c.5967T>A (p.Ala1989=) c.1401T>A (p.Ala467=) c.2195T>A c.5859T>A (p.Ala1953=) c.3048T>A (p.Ala1016=) | gnomAD v4 |
14 | g.91272746G>A | CA390608157 | CCDC88C | c.5966C>T (p.Ala1989Val) c.1400C>T (p.Ala467Val) c.2194C>T c.5858C>T (p.Ala1953Val) c.3047C>T (p.Ala1016Val) | gnomAD v4 |
14 | g.91272746G>C | CA390608159 | CCDC88C | c.5966C>G (p.Ala1989Gly) c.1400C>G (p.Ala467Gly) c.2194C>G c.5858C>G (p.Ala1953Gly) c.3047C>G (p.Ala1016Gly) | |
14 | g.91272746G>T | CA390608155 | CCDC88C | c.5966C>A (p.Ala1989Asp) c.1400C>A (p.Ala467Asp) c.2194C>A c.5858C>A (p.Ala1953Asp) c.3047C>A (p.Ala1016Asp) | gnomAD v4 |
14 | g.91272747C>A | CA390608164 | CCDC88C | c.5965G>T (p.Ala1989Ser) c.1399G>T (p.Ala467Ser) c.2193G>T c.5857G>T (p.Ala1953Ser) c.3046G>T (p.Ala1016Ser) | gnomAD v4 |
14 | g.91272747C= | CA2154900306 | CCDC88C | c.5965G= (p.Ala1989=) c.1399G= (p.Ala467=) c.2193G= c.5857G= (p.Ala1953=) c.3046G= (p.Ala1016=) | |
14 | g.91272747C>G | CA390608162 | CCDC88C | c.5965G>C (p.Ala1989Pro) c.1399G>C (p.Ala467Pro) c.2193G>C c.5857G>C (p.Ala1953Pro) c.3046G>C (p.Ala1016Pro) | |
14 | g.91272747C>T | CA390608163 | CCDC88C | c.5965G>A (p.Ala1989Thr) c.1399G>A (p.Ala467Thr) c.2193G>A c.5857G>A (p.Ala1953Thr) c.3046G>A (p.Ala1016Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272748C>A | CA390608166 | CCDC88C | c.5964G>T (p.Leu1988Phe) c.1398G>T (p.Leu466Phe) c.2192G>T c.5856G>T (p.Leu1952Phe) c.3045G>T (p.Leu1015Phe) | |
14 | g.91272748C>G | CA390608168 | CCDC88C | c.5964G>C (p.Leu1988Phe) c.1398G>C (p.Leu466Phe) c.2192G>C c.5856G>C (p.Leu1952Phe) c.3045G>C (p.Leu1015Phe) | |
14 | g.91272748C>T | CA487828569 | CCDC88C | c.5964G>A (p.Leu1988=) c.1398G>A (p.Leu466=) c.2192G>A c.5856G>A (p.Leu1952=) c.3045G>A (p.Leu1015=) | gnomAD v4 |
14 | g.91272749A>C | CA390608171 | CCDC88C | c.5963T>G (p.Leu1988Trp) c.1397T>G (p.Leu466Trp) c.2191T>G c.5855T>G (p.Leu1952Trp) c.3044T>G (p.Leu1015Trp) | |
14 | g.91272749A>G | CA390608172 | CCDC88C | c.5963T>C (p.Leu1988Ser) c.1397T>C (p.Leu466Ser) c.2191T>C c.5855T>C (p.Leu1952Ser) c.3044T>C (p.Leu1015Ser) | |
14 | g.91272749A>T | CA390608175 | CCDC88C | c.5963T>A (p.Leu1988Ter) c.1397T>A (p.Leu466Ter) c.2191T>A c.5855T>A (p.Leu1952Ter) c.3044T>A (p.Leu1015Ter) | |
14 | g.91272750A>C | CA390608177 | CCDC88C | c.5962T>G (p.Leu1988Val) c.1396T>G (p.Leu466Val) c.2190T>G c.5854T>G (p.Leu1952Val) c.3043T>G (p.Leu1015Val) | gnomAD v4 |
14 | g.91272750A>G | CA487828570 | CCDC88C | c.5962T>C (p.Leu1988=) c.1396T>C (p.Leu466=) c.2190T>C c.5854T>C (p.Leu1952=) c.3043T>C (p.Leu1015=) | |
14 | g.91272750A>T | CA390608178 | CCDC88C | c.5962T>A (p.Leu1988Met) c.1396T>A (p.Leu466Met) c.2190T>A c.5854T>A (p.Leu1952Met) c.3043T>A (p.Leu1015Met) | |
14 | g.91272751A>C | CA390608182 | CCDC88C | c.5961T>G (p.Asp1987Glu) c.1395T>G (p.Asp465Glu) c.2189T>G c.5853T>G (p.Asp1951Glu) c.3042T>G (p.Asp1014Glu) | |
14 | g.91272751A>G | CA487828571 | CCDC88C | c.5961T>C (p.Asp1987=) c.1395T>C (p.Asp465=) c.2189T>C c.5853T>C (p.Asp1951=) c.3042T>C (p.Asp1014=) | |
14 | g.91272751A>T | CA390608184 | CCDC88C | c.5961T>A (p.Asp1987Glu) c.1395T>A (p.Asp465Glu) c.2189T>A c.5853T>A (p.Asp1951Glu) c.3042T>A (p.Asp1014Glu) | |
14 | g.91272752T>A | CA390608192 | CCDC88C | c.5960A>T (p.Asp1987Val) c.1394A>T (p.Asp465Val) c.2188A>T c.5852A>T (p.Asp1951Val) c.3041A>T (p.Asp1014Val) | |
14 | g.91272752T>C | CA390608189 | CCDC88C | c.5960A>G (p.Asp1987Gly) c.1394A>G (p.Asp465Gly) c.2188A>G c.5852A>G (p.Asp1951Gly) c.3041A>G (p.Asp1014Gly) | |
14 | g.91272752T>G | CA390608187 | CCDC88C | c.5960A>C (p.Asp1987Ala) c.1394A>C (p.Asp465Ala) c.2188A>C c.5852A>C (p.Asp1951Ala) c.3041A>C (p.Asp1014Ala) | |
14 | g.91272753C>A | CA390608194 | CCDC88C | c.5959G>T (p.Asp1987Tyr) c.1393G>T (p.Asp465Tyr) c.2187G>T c.5851G>T (p.Asp1951Tyr) c.3040G>T (p.Asp1014Tyr) | gnomAD v4 |
14 | g.91272753C= | CA2154900310 | CCDC88C | c.5959G= (p.Asp1987=) c.1393G= (p.Asp465=) c.2187G= c.5851G= (p.Asp1951=) c.3040G= (p.Asp1014=) | |
14 | g.91272753C>G | CA390608195 | CCDC88C | c.5959G>C (p.Asp1987His) c.1393G>C (p.Asp465His) c.2187G>C c.5851G>C (p.Asp1951His) c.3040G>C (p.Asp1014His) | |
14 | g.91272753C>T | CA7308549 | CCDC88C | c.5959G>A (p.Asp1987Asn) c.1393G>A (p.Asp465Asn) c.2187G>A c.5851G>A (p.Asp1951Asn) c.3040G>A (p.Asp1014Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272754G>A | CA7308550 | CCDC88C | c.5958C>T (p.Pro1986=) c.1392C>T (p.Pro464=) c.2186C>T c.5850C>T (p.Pro1950=) c.3039C>T (p.Pro1013=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272754G>C | CA487828574 | CCDC88C | c.5958C>G (p.Pro1986=) c.1392C>G (p.Pro464=) c.2186C>G c.5850C>G (p.Pro1950=) c.3039C>G (p.Pro1013=) | gnomAD v4 |
14 | g.91272754G= | CA2154900313 | CCDC88C | c.5958C= (p.Pro1986=) c.1392C= (p.Pro464=) c.2186C= c.5850C= (p.Pro1950=) c.3039C= (p.Pro1013=) | |
14 | g.91272754G>T | CA487828575 | CCDC88C | c.5958C>A (p.Pro1986=) c.1392C>A (p.Pro464=) c.2186C>A c.5850C>A (p.Pro1950=) c.3039C>A (p.Pro1013=) | gnomAD v4 |
14 | g.91272756del | CA2626127262 | CCDC88C | c.5958del (p.Asp1987IlefsTer?) c.1392del (p.Asp465IlefsTer?) c.2186del c.5850del (p.Asp1951IlefsTer?) c.3039del (p.Asp1014IlefsTer?) | gnomAD v4 |
14 | g.91272755G>A | CA390608201 | CCDC88C | c.5957C>T (p.Pro1986Leu) c.1391C>T (p.Pro464Leu) c.2185C>T c.5849C>T (p.Pro1950Leu) c.3038C>T (p.Pro1013Leu) | gnomAD v4 |
14 | g.91272755G>C | CA390608203 | CCDC88C | c.5957C>G (p.Pro1986Arg) c.1391C>G (p.Pro464Arg) c.2185C>G c.5849C>G (p.Pro1950Arg) c.3038C>G (p.Pro1013Arg) | |
14 | g.91272755G>T | CA390608205 | CCDC88C | c.5957C>A (p.Pro1986His) c.1391C>A (p.Pro464His) c.2185C>A c.5849C>A (p.Pro1950His) c.3038C>A (p.Pro1013His) | gnomAD v4 |
14 | g.91272756G>A | CA390608207 | CCDC88C | c.5956C>T (p.Pro1986Ser) c.1390C>T (p.Pro464Ser) c.2184C>T c.5848C>T (p.Pro1950Ser) c.3037C>T (p.Pro1013Ser) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91272756G>C | CA390608209 | CCDC88C | c.5956C>G (p.Pro1986Ala) c.1390C>G (p.Pro464Ala) c.2184C>G c.5848C>G (p.Pro1950Ala) c.3037C>G (p.Pro1013Ala) | |
14 | g.91272756G= | CA2154900317 | CCDC88C | c.5956C= (p.Pro1986=) c.1390C= (p.Pro464=) c.2184C= c.5848C= (p.Pro1950=) c.3037C= (p.Pro1013=) | |
14 | g.91272756G>T | CA390608212 | CCDC88C | c.5956C>A (p.Pro1986Thr) c.1390C>A (p.Pro464Thr) c.2184C>A c.5848C>A (p.Pro1950Thr) c.3037C>A (p.Pro1013Thr) | gnomAD v4 |
14 | g.91272757A>C | CA487828577 | CCDC88C | c.5955T>G (p.Ser1985=) c.1389T>G (p.Ser463=) c.2183T>G c.5847T>G (p.Ser1949=) c.3036T>G (p.Ser1012=) | gnomAD v4 |
14 | g.91272757A>G | CA487828578 | CCDC88C | c.5955T>C (p.Ser1985=) c.1389T>C (p.Ser463=) c.2183T>C c.5847T>C (p.Ser1949=) c.3036T>C (p.Ser1012=) | |
14 | g.91272757A>T | CA487828579 | CCDC88C | c.5955T>A (p.Ser1985=) c.1389T>A (p.Ser463=) c.2183T>A c.5847T>A (p.Ser1949=) c.3036T>A (p.Ser1012=) | |
14 | g.91272758G>A | CA7308551 | CCDC88C | c.5954C>T (p.Ser1985Phe) c.1388C>T (p.Ser463Phe) c.2182C>T c.5846C>T (p.Ser1949Phe) c.3035C>T (p.Ser1012Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272758G>C | CA171542 | CCDC88C | c.5954C>G (p.Ser1985Cys) c.1388C>G (p.Ser463Cys) c.2182C>G c.5846C>G (p.Ser1949Cys) c.3035C>G (p.Ser1012Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272758G= | CA2154900322 | CCDC88C | c.5954C= (p.Ser1985=) c.1388C= (p.Ser463=) c.2182C= c.5846C= (p.Ser1949=) c.3035C= (p.Ser1012=) | |
14 | g.91272758G>T | CA390608216 | CCDC88C | c.5954C>A (p.Ser1985Tyr) c.1388C>A (p.Ser463Tyr) c.2182C>A c.5846C>A (p.Ser1949Tyr) c.3035C>A (p.Ser1012Tyr) | gnomAD v4 |
14 | g.91272759A>C | CA390608222 | CCDC88C | c.5953T>G (p.Ser1985Ala) c.1387T>G (p.Ser463Ala) c.2181T>G c.5845T>G (p.Ser1949Ala) c.3034T>G (p.Ser1012Ala) | gnomAD v4 |
14 | g.91272759A>G | CA390608224 | CCDC88C | c.5953T>C (p.Ser1985Pro) c.1387T>C (p.Ser463Pro) c.2181T>C c.5845T>C (p.Ser1949Pro) c.3034T>C (p.Ser1012Pro) | gnomAD v4 |
14 | g.91272759A>T | CA390608220 | CCDC88C | c.5953T>A (p.Ser1985Thr) c.1387T>A (p.Ser463Thr) c.2181T>A c.5845T>A (p.Ser1949Thr) c.3034T>A (p.Ser1012Thr) | |
14 | g.91272760C>A | CA487828580 | CCDC88C | c.5952G>T (p.Arg1984=) c.1386G>T (p.Arg462=) c.2180G>T c.5844G>T (p.Arg1948=) c.3033G>T (p.Arg1011=) | |
14 | g.91272760C>G | CA487828581 | CCDC88C | c.5952G>C (p.Arg1984=) c.1386G>C (p.Arg462=) c.2180G>C c.5844G>C (p.Arg1948=) c.3033G>C (p.Arg1011=) | |
14 | g.91272760C>T | CA487828582 | CCDC88C | c.5952G>A (p.Arg1984=) c.1386G>A (p.Arg462=) c.2180G>A c.5844G>A (p.Arg1948=) c.3033G>A (p.Arg1011=) | gnomAD v4 |
14 | g.91272761dup | CA2839517020 | CCDC88C | c.5952dup (p.Ser1985ValfsTer?) c.1386dup (p.Ser463ValfsTer?) c.2180dup c.5844dup (p.Ser1949ValfsTer?) c.3033dup (p.Ser1012ValfsTer?) | |
14 | g.91272761C>A | CA390608228 | CCDC88C | c.5951G>T (p.Arg1984Leu) c.1385G>T (p.Arg462Leu) c.2179G>T c.5843G>T (p.Arg1948Leu) c.3032G>T (p.Arg1011Leu) | gnomAD v4 |
14 | g.91272761C= | CA2154900332 | CCDC88C | c.5951G= (p.Arg1984=) c.1385G= (p.Arg462=) c.2179G= c.5843G= (p.Arg1948=) c.3032G= (p.Arg1011=) | |
14 | g.91272761C>G | CA390608233 | CCDC88C | c.5951G>C (p.Arg1984Pro) c.1385G>C (p.Arg462Pro) c.2179G>C c.5843G>C (p.Arg1948Pro) c.3032G>C (p.Arg1011Pro) | |
14 | g.91272761C>T | CA7308552 | CCDC88C | c.5951G>A (p.Arg1984Gln) c.1385G>A (p.Arg462Gln) c.2179G>A c.5843G>A (p.Arg1948Gln) c.3032G>A (p.Arg1011Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272762G>A | CA390608235 | CCDC88C | c.5950C>T (p.Arg1984Trp) c.1384C>T (p.Arg462Trp) c.2178C>T c.5842C>T (p.Arg1948Trp) c.3031C>T (p.Arg1011Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272762G>C | CA390608237 | CCDC88C | c.5950C>G (p.Arg1984Gly) c.1384C>G (p.Arg462Gly) c.2178C>G c.5842C>G (p.Arg1948Gly) c.3031C>G (p.Arg1011Gly) | gnomAD v4 |
14 | g.91272762G= | CA2154900336 | CCDC88C | c.5950C= (p.Arg1984=) c.1384C= (p.Arg462=) c.2178C= c.5842C= (p.Arg1948=) c.3031C= (p.Arg1011=) | |
14 | g.91272762G>T | CA487828584 | CCDC88C | c.5950C>A (p.Arg1984=) c.1384C>A (p.Arg462=) c.2178C>A c.5842C>A (p.Arg1948=) c.3031C>A (p.Arg1011=) | gnomAD v4 |
14 | g.91272763A>C | CA487828585 | CCDC88C | c.5949T>G (p.Gly1983=) c.1383T>G (p.Gly461=) c.2177T>G c.5841T>G (p.Gly1947=) c.3030T>G (p.Gly1010=) | |
14 | g.91272763A>G | CA487828586 | CCDC88C | c.5949T>C (p.Gly1983=) c.1383T>C (p.Gly461=) c.2177T>C c.5841T>C (p.Gly1947=) c.3030T>C (p.Gly1010=) | |
14 | g.91272763A>T | CA487828587 | CCDC88C | c.5949T>A (p.Gly1983=) c.1383T>A (p.Gly461=) c.2177T>A c.5841T>A (p.Gly1947=) c.3030T>A (p.Gly1010=) | |
14 | g.91272764C>A | CA390608240 | CCDC88C | c.5948G>T (p.Gly1983Val) c.1382G>T (p.Gly461Val) c.2176G>T c.5840G>T (p.Gly1947Val) c.3029G>T (p.Gly1010Val) | |
14 | g.91272764C= | CA2154900343 | CCDC88C | c.5948G= (p.Gly1983=) c.1382G= (p.Gly461=) c.2176G= c.5840G= (p.Gly1947=) c.3029G= (p.Gly1010=) | |
14 | g.91272764C>G | CA171540 | CCDC88C | c.5948G>C (p.Gly1983Ala) c.1382G>C (p.Gly461Ala) c.2176G>C c.5840G>C (p.Gly1947Ala) c.3029G>C (p.Gly1010Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272764C>T | CA390608243 | CCDC88C | c.5948G>A (p.Gly1983Asp) c.1382G>A (p.Gly461Asp) c.2176G>A c.5840G>A (p.Gly1947Asp) c.3029G>A (p.Gly1010Asp) | |
14 | g.91272765C>A | CA390608246 | CCDC88C | c.5947G>T (p.Gly1983Cys) c.1381G>T (p.Gly461Cys) c.2175G>T c.5839G>T (p.Gly1947Cys) c.3028G>T (p.Gly1010Cys) | |
14 | g.91272765C>G | CA390608248 | CCDC88C | c.5947G>C (p.Gly1983Arg) c.1381G>C (p.Gly461Arg) c.2175G>C c.5839G>C (p.Gly1947Arg) c.3028G>C (p.Gly1010Arg) | |
14 | g.91272765C>T | CA390608250 | CCDC88C | c.5947G>A (p.Gly1983Ser) c.1381G>A (p.Gly461Ser) c.2175G>A c.5839G>A (p.Gly1947Ser) c.3028G>A (p.Gly1010Ser) | |
14 | g.91272766T>A | CA487828594 | CCDC88C | c.5946A>T (p.Pro1982=) c.1380A>T (p.Pro460=) c.2174A>T c.5838A>T (p.Pro1946=) c.3027A>T (p.Pro1009=) | |
14 | g.91272766T>C | CA487828595 | CCDC88C | c.5946A>G (p.Pro1982=) c.1380A>G (p.Pro460=) c.2174A>G c.5838A>G (p.Pro1946=) c.3027A>G (p.Pro1009=) | gnomAD v4 |
14 | g.91272766T>G | CA487828596 | CCDC88C | c.5946A>C (p.Pro1982=) c.1380A>C (p.Pro460=) c.2174A>C c.5838A>C (p.Pro1946=) c.3027A>C (p.Pro1009=) | |
14 | g.91272767G>A | CA390608252 | CCDC88C | c.5945C>T (p.Pro1982Leu) c.1379C>T (p.Pro460Leu) c.2173C>T c.5837C>T (p.Pro1946Leu) c.3026C>T (p.Pro1009Leu) | gnomAD v4 |
14 | g.91272767G>C | CA390608255 | CCDC88C | c.5945C>G (p.Pro1982Arg) c.1379C>G (p.Pro460Arg) c.2173C>G c.5837C>G (p.Pro1946Arg) c.3026C>G (p.Pro1009Arg) | |
14 | g.91272767G>T | CA390608257 | CCDC88C | c.5945C>A (p.Pro1982Gln) c.1379C>A (p.Pro460Gln) c.2173C>A c.5837C>A (p.Pro1946Gln) c.3026C>A (p.Pro1009Gln) | gnomAD v4 |
14 | g.91272768G>A | CA390608265 | CCDC88C | c.5944C>T (p.Pro1982Ser) c.1378C>T (p.Pro460Ser) c.2172C>T c.5836C>T (p.Pro1946Ser) c.3025C>T (p.Pro1009Ser) | |
14 | g.91272768G>C | CA390608262 | CCDC88C | c.5944C>G (p.Pro1982Ala) c.1378C>G (p.Pro460Ala) c.2172C>G c.5836C>G (p.Pro1946Ala) c.3025C>G (p.Pro1009Ala) | |
14 | g.91272768G>T | CA390608261 | CCDC88C | c.5944C>A (p.Pro1982Thr) c.1378C>A (p.Pro460Thr) c.2172C>A c.5836C>A (p.Pro1946Thr) c.3025C>A (p.Pro1009Thr) | gnomAD v4 |
14 | g.91272769G>A | CA487828601 | CCDC88C | c.5943C>T (p.Ser1981=) c.1377C>T (p.Ser459=) c.2171C>T c.5835C>T (p.Ser1945=) c.3024C>T (p.Ser1008=) | |
14 | g.91272769G>C | CA390608269 | CCDC88C | c.5943C>G (p.Ser1981Arg) c.1377C>G (p.Ser459Arg) c.2171C>G c.5835C>G (p.Ser1945Arg) c.3024C>G (p.Ser1008Arg) | |
14 | g.91272769G= | CA2154900353 | CCDC88C | c.5943C= (p.Ser1981=) c.1377C= (p.Ser459=) c.2171C= c.5835C= (p.Ser1945=) c.3024C= (p.Ser1008=) | |
14 | g.91272769G>T | CA390608270 | CCDC88C | c.5943C>A (p.Ser1981Arg) c.1377C>A (p.Ser459Arg) c.2171C>A c.5835C>A (p.Ser1945Arg) c.3024C>A (p.Ser1008Arg) | dbSNP gnomAD v4 |
14 | g.91272770C>A | CA390608272 | CCDC88C | c.5942G>T (p.Ser1981Ile) c.1376G>T (p.Ser459Ile) c.2170G>T c.5834G>T (p.Ser1945Ile) c.3023G>T (p.Ser1008Ile) | gnomAD v4 |
14 | g.91272770C= | CA2154900356 | CCDC88C | c.5942G= (p.Ser1981=) c.1376G= (p.Ser459=) c.2170G= c.5834G= (p.Ser1945=) c.3023G= (p.Ser1008=) | |
14 | g.91272770C>G | CA390608274 | CCDC88C | c.5942G>C (p.Ser1981Thr) c.1376G>C (p.Ser459Thr) c.2170G>C c.5834G>C (p.Ser1945Thr) c.3023G>C (p.Ser1008Thr) | dbSNP gnomAD v2 |
14 | g.91272770C>T | CA390608275 | CCDC88C | c.5942G>A (p.Ser1981Asn) c.1376G>A (p.Ser459Asn) c.2170G>A c.5834G>A (p.Ser1945Asn) c.3023G>A (p.Ser1008Asn) | gnomAD v4 |
14 | g.91272771T>A | CA390608278 | CCDC88C | c.5941A>T (p.Ser1981Cys) c.1375A>T (p.Ser459Cys) c.2169A>T c.5833A>T (p.Ser1945Cys) c.3022A>T (p.Ser1008Cys) | |
14 | g.91272771T>C | CA390608281 | CCDC88C | c.5941A>G (p.Ser1981Gly) c.1375A>G (p.Ser459Gly) c.2169A>G c.5833A>G (p.Ser1945Gly) c.3022A>G (p.Ser1008Gly) | gnomAD v4 |
14 | g.91272771T>G | CA7308553 | CCDC88C | c.5941A>C (p.Ser1981Arg) c.1375A>C (p.Ser459Arg) c.2169A>C c.5833A>C (p.Ser1945Arg) c.3022A>C (p.Ser1008Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91272771T= | CA2154900361 | CCDC88C | c.5941A= (p.Ser1981=) c.1375A= (p.Ser459=) c.2169A= c.5833A= (p.Ser1945=) c.3022A= (p.Ser1008=) |