Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.95101793A= | CA1865459553 | AOPEP,FANCC | n.410+21013A= n.2406T= c.1591T= (p.Tyr531=) c.1736T= (n.1736T=) c.910T= (p.Tyr304=) c.1426T= (p.Tyr476=) c.1135T= (p.Tyr379=) c.2319+21013A= (n.2319+21013A=) c.970T= (p.Tyr324=) | |
9 | g.95101793A>C | CA374104582 | AOPEP,FANCC | n.410+21013A>C n.2406T>G c.1591T>G (p.Tyr531Asp) c.1736T>G (n.1736T>G) c.910T>G (p.Tyr304Asp) c.1426T>G (p.Tyr476Asp) c.1135T>G (p.Tyr379Asp) c.2319+21013A>C (n.2319+21013A>C) c.970T>G (p.Tyr324Asp) | |
9 | g.95101793A>G | CA374104583 | AOPEP,FANCC | n.410+21013A>G n.2406T>C c.1591T>C (p.Tyr531His) c.1736T>C (n.1736T>C) c.910T>C (p.Tyr304His) c.1426T>C (p.Tyr476His) c.1135T>C (p.Tyr379His) c.2319+21013A>G (n.2319+21013A>G) c.970T>C (p.Tyr324His) | |
9 | g.95101793A>T | CA374104586 | AOPEP,FANCC | n.410+21013A>T n.2406T>A c.1591T>A (p.Tyr531Asn) c.1736T>A (n.1736T>A) c.910T>A (p.Tyr304Asn) c.1426T>A (p.Tyr476Asn) c.1135T>A (p.Tyr379Asn) c.2319+21013A>T (n.2319+21013A>T) c.970T>A (p.Tyr324Asn) | |
9 | g.95101793dup | CA913160922 | AOPEP,FANCC | n.410+21013dup n.2406dup c.1591dup (p.Tyr531LeufsTer9) c.1736dup (n.1736dup) c.910dup (p.Tyr304LeufsTer9) c.1426dup (p.Tyr476LeufsTer9) c.1135dup (p.Tyr379LeufsTer9) c.2319+21013dup (n.2319+21013dup) c.970dup (p.Tyr324LeufsTer9) | |
9 | g.95101794C>A | CA374104590 | AOPEP,FANCC | n.410+21014C>A n.2405G>T c.1590G>T (p.Leu530Phe) c.1735G>T (n.1735G>T) c.909G>T (p.Leu303Phe) c.1425G>T (p.Leu475Phe) c.1134G>T (p.Leu378Phe) c.2319+21014C>A (n.2319+21014C>A) c.969G>T (p.Leu323Phe) | |
9 | g.95101794C>G | CA374104591 | AOPEP,FANCC | n.410+21014C>G n.2405G>C c.1590G>C (p.Leu530Phe) c.1735G>C (n.1735G>C) c.909G>C (p.Leu303Phe) c.1425G>C (p.Leu475Phe) c.1134G>C (p.Leu378Phe) c.2319+21014C>G (n.2319+21014C>G) c.969G>C (p.Leu323Phe) | |
9 | g.95101794C>T | CA466092087 | AOPEP,FANCC | n.410+21014C>T n.2405G>A c.1590G>A (p.Leu530=) c.1735G>A (n.1735G>A) c.909G>A (p.Leu303=) c.1425G>A (p.Leu475=) c.1134G>A (p.Leu378=) c.2319+21014C>T (n.2319+21014C>T) c.969G>A (p.Leu323=) | |
9 | g.95101794_95101797dup | CA658822329 | AOPEP,FANCC | n.410+21014_410+21017dup n.2402_2405dup c.1587_1590dup (p.Tyr531LeufsTer10) c.1732_1735dup (n.1732_1735dup) c.906_909dup (p.Tyr304LeufsTer10) c.1422_1425dup (p.Tyr476LeufsTer10) c.1131_1134dup (p.Tyr379LeufsTer10) c.2319+21014_2319+21017dup (n.2319+21014_2319+21017dup) c.966_969dup (p.Tyr324LeufsTer10) | ClinVar dbSNP |
9 | g.95101795A= | CA1865459554 | AOPEP,FANCC | n.410+21015A= n.2404T= c.1589T= (p.Leu530=) c.1734T= (n.1734T=) c.908T= (p.Leu303=) c.1424T= (p.Leu475=) c.1133T= (p.Leu378=) c.2319+21015A= (n.2319+21015A=) c.968T= (p.Leu323=) | |
9 | g.95101795A>C | CA374104594 | AOPEP,FANCC | n.410+21015A>C n.2404T>G c.1589T>G (p.Leu530Trp) c.1734T>G (n.1734T>G) c.908T>G (p.Leu303Trp) c.1424T>G (p.Leu475Trp) c.1133T>G (p.Leu378Trp) c.2319+21015A>C (n.2319+21015A>C) c.968T>G (p.Leu323Trp) | |
9 | g.95101795A>G | CA337625 | AOPEP,FANCC | n.410+21015A>G n.2404T>C c.1589T>C (p.Leu530Ser) c.1734T>C (n.1734T>C) c.908T>C (p.Leu303Ser) c.1424T>C (p.Leu475Ser) c.1133T>C (p.Leu378Ser) c.2319+21015A>G (n.2319+21015A>G) c.968T>C (p.Leu323Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.95101795A>T | CA374104599 | AOPEP,FANCC | n.410+21015A>T n.2404T>A c.1589T>A (p.Leu530Ter) c.1734T>A (n.1734T>A) c.908T>A (p.Leu303Ter) c.1424T>A (p.Leu475Ter) c.1133T>A (p.Leu378Ter) c.2319+21015A>T (n.2319+21015A>T) c.968T>A (p.Leu323Ter) | |
9 | g.95101796A= | CA1865459555 | AOPEP,FANCC | n.410+21016A= n.2403T= c.1588T= (p.Leu530=) c.1733T= (n.1733T=) c.907T= (p.Leu303=) c.1423T= (p.Leu475=) c.1132T= (p.Leu378=) c.2319+21016A= (n.2319+21016A=) c.967T= (p.Leu323=) | |
9 | g.95101796A>C | CA374104602 | AOPEP,FANCC | n.410+21016A>C n.2403T>G c.1588T>G (p.Leu530Val) c.1733T>G (n.1733T>G) c.907T>G (p.Leu303Val) c.1423T>G (p.Leu475Val) c.1132T>G (p.Leu378Val) c.2319+21016A>C (n.2319+21016A>C) c.967T>G (p.Leu323Val) | |
9 | g.95101796A>G | CA196536766 | AOPEP,FANCC | n.410+21016A>G n.2403T>C c.1588T>C (p.Leu530=) c.1733T>C (n.1733T>C) c.907T>C (p.Leu303=) c.1423T>C (p.Leu475=) c.1132T>C (p.Leu378=) c.2319+21016A>G (n.2319+21016A>G) c.967T>C (p.Leu323=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.95101796A>T | CA374104605 | AOPEP,FANCC | n.410+21016A>T n.2403T>A c.1588T>A (p.Leu530Met) c.1733T>A (n.1733T>A) c.907T>A (p.Leu303Met) c.1423T>A (p.Leu475Met) c.1132T>A (p.Leu378Met) c.2319+21016A>T (n.2319+21016A>T) c.967T>A (p.Leu323Met) | |
9 | g.95101797G>A | CA466092088 | AOPEP,FANCC | n.410+21017G>A n.2402C>T c.1587C>T (p.Thr529=) c.1732C>T (n.1732C>T) c.906C>T (p.Thr302=) c.1422C>T (p.Thr474=) c.1131C>T (p.Thr377=) c.2319+21017G>A (n.2319+21017G>A) c.966C>T (p.Thr322=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.95101797G>C | CA196536770 | AOPEP,FANCC | n.410+21017G>C n.2402C>G c.1587C>G (p.Thr529=) c.1732C>G (n.1732C>G) c.906C>G (p.Thr302=) c.1422C>G (p.Thr474=) c.1131C>G (p.Thr377=) c.2319+21017G>C (n.2319+21017G>C) c.966C>G (p.Thr322=) | ClinVar dbSNP gnomAD v4 |
9 | g.95101797G= | CA1865459556 | AOPEP,FANCC | n.410+21017G= n.2402C= c.1587C= (p.Thr529=) c.1732C= (n.1732C=) c.906C= (p.Thr302=) c.1422C= (p.Thr474=) c.1131C= (p.Thr377=) c.2319+21017G= (n.2319+21017G=) c.966C= (p.Thr322=) | |
9 | g.95101797G>T | CA466092089 | AOPEP,FANCC | n.410+21017G>T n.2402C>A c.1587C>A (p.Thr529=) c.1732C>A (n.1732C>A) c.906C>A (p.Thr302=) c.1422C>A (p.Thr474=) c.1131C>A (p.Thr377=) c.2319+21017G>T (n.2319+21017G>T) c.966C>A (p.Thr322=) | |
9 | g.95101798G>A | CA374104607 | AOPEP,FANCC | n.410+21018G>A n.2401C>T c.1586C>T (p.Thr529Ile) c.1731C>T (n.1731C>T) c.905C>T (p.Thr302Ile) c.1421C>T (p.Thr474Ile) c.1130C>T (p.Thr377Ile) c.2319+21018G>A (n.2319+21018G>A) c.965C>T (p.Thr322Ile) | |
9 | g.95101798G>C | CA374104610 | AOPEP,FANCC | n.410+21018G>C n.2401C>G c.1586C>G (p.Thr529Ser) c.1731C>G (n.1731C>G) c.905C>G (p.Thr302Ser) c.1421C>G (p.Thr474Ser) c.1130C>G (p.Thr377Ser) c.2319+21018G>C (n.2319+21018G>C) c.965C>G (p.Thr322Ser) | |
9 | g.95101798G>T | CA374104612 | AOPEP,FANCC | n.410+21018G>T n.2401C>A c.1586C>A (p.Thr529Asn) c.1731C>A (n.1731C>A) c.905C>A (p.Thr302Asn) c.1421C>A (p.Thr474Asn) c.1130C>A (p.Thr377Asn) c.2319+21018G>T (n.2319+21018G>T) c.965C>A (p.Thr322Asn) | ClinVar gnomAD v4 |
9 | g.95101799T>A | CA374104614 | AOPEP,FANCC | n.410+21019T>A n.2400A>T c.1585A>T (p.Thr529Ser) c.1730A>T (n.1730A>T) c.904A>T (p.Thr302Ser) c.1420A>T (p.Thr474Ser) c.1129A>T (p.Thr377Ser) c.2319+21019T>A (n.2319+21019T>A) c.964A>T (p.Thr322Ser) | ClinVar dbSNP |
9 | g.95101799T>C | CA374104616 | AOPEP,FANCC | n.410+21019T>C n.2400A>G c.1585A>G (p.Thr529Ala) c.1730A>G (n.1730A>G) c.904A>G (p.Thr302Ala) c.1420A>G (p.Thr474Ala) c.1129A>G (p.Thr377Ala) c.2319+21019T>C (n.2319+21019T>C) c.964A>G (p.Thr322Ala) | |
9 | g.95101799T>G | CA159396 | AOPEP,FANCC | n.410+21019T>G n.2400A>C c.1585A>C (p.Thr529Pro) c.1730A>C (n.1730A>C) c.904A>C (p.Thr302Pro) c.1420A>C (p.Thr474Pro) c.1129A>C (p.Thr377Pro) c.2319+21019T>G (n.2319+21019T>G) c.964A>C (p.Thr322Pro) | ClinVar dbSNP |
9 | g.95101799T= | CA1865459557 | AOPEP,FANCC | n.410+21019T= n.2400A= c.1585A= (p.Thr529=) c.1730A= (n.1730A=) c.904A= (p.Thr302=) c.1420A= (p.Thr474=) c.1129A= (p.Thr377=) c.2319+21019T= (n.2319+21019T=) c.964A= (p.Thr322=) | |
9 | g.95101800C>A | CA374104618 | AOPEP,FANCC | n.410+21020C>A n.2399G>T c.1584G>T (p.Gln528His) c.1729G>T (n.1729G>T) c.903G>T (p.Gln301His) c.1419G>T (p.Gln473His) c.1128G>T (p.Gln376His) c.2319+21020C>A (n.2319+21020C>A) c.963G>T (p.Gln321His) | |
9 | g.95101800C>G | CA374104619 | AOPEP,FANCC | n.410+21020C>G n.2399G>C c.1584G>C (p.Gln528His) c.1729G>C (n.1729G>C) c.903G>C (p.Gln301His) c.1419G>C (p.Gln473His) c.1128G>C (p.Gln376His) c.2319+21020C>G (n.2319+21020C>G) c.963G>C (p.Gln321His) | |
9 | g.95101800C>T | CA466092090 | AOPEP,FANCC | n.410+21020C>T n.2399G>A c.1584G>A (p.Gln528=) c.1729G>A (n.1729G>A) c.903G>A (p.Gln301=) c.1419G>A (p.Gln473=) c.1128G>A (p.Gln376=) c.2319+21020C>T (n.2319+21020C>T) c.963G>A (p.Gln321=) | ClinVar |
9 | g.95101801T>A | CA374104622 | AOPEP,FANCC | n.410+21021T>A n.2398A>T c.1583A>T (p.Gln528Leu) c.1728A>T (n.1728A>T) c.902A>T (p.Gln301Leu) c.1418A>T (p.Gln473Leu) c.1127A>T (p.Gln376Leu) c.2319+21021T>A (n.2319+21021T>A) c.962A>T (p.Gln321Leu) | |
9 | g.95101801T>C | CA374104624 | AOPEP,FANCC | n.410+21021T>C n.2398A>G c.1583A>G (p.Gln528Arg) c.1728A>G (n.1728A>G) c.902A>G (p.Gln301Arg) c.1418A>G (p.Gln473Arg) c.1127A>G (p.Gln376Arg) c.2319+21021T>C (n.2319+21021T>C) c.962A>G (p.Gln321Arg) | |
9 | g.95101801T>G | CA374104626 | AOPEP,FANCC | n.410+21021T>G n.2398A>C c.1583A>C (p.Gln528Pro) c.1728A>C (n.1728A>C) c.902A>C (p.Gln301Pro) c.1418A>C (p.Gln473Pro) c.1127A>C (p.Gln376Pro) c.2319+21021T>G (n.2319+21021T>G) c.962A>C (p.Gln321Pro) | |
9 | g.95101802G>A | CA374104629 | AOPEP,FANCC | n.410+21022G>A n.2397C>T c.1582C>T (p.Gln528Ter) c.1727C>T (n.1727C>T) c.901C>T (p.Gln301Ter) c.1417C>T (p.Gln473Ter) c.1126C>T (p.Gln376Ter) c.2319+21022G>A (n.2319+21022G>A) c.961C>T (p.Gln321Ter) | ClinVar |
9 | g.95101802G>C | CA374104631 | AOPEP,FANCC | n.410+21022G>C n.2397C>G c.1582C>G (p.Gln528Glu) c.1727C>G (n.1727C>G) c.901C>G (p.Gln301Glu) c.1417C>G (p.Gln473Glu) c.1126C>G (p.Gln376Glu) c.2319+21022G>C (n.2319+21022G>C) c.961C>G (p.Gln321Glu) | |
9 | g.95101802G>T | CA374104633 | AOPEP,FANCC | n.410+21022G>T n.2397C>A c.1582C>A (p.Gln528Lys) c.1727C>A (n.1727C>A) c.901C>A (p.Gln301Lys) c.1417C>A (p.Gln473Lys) c.1126C>A (p.Gln376Lys) c.2319+21022G>T (n.2319+21022G>T) c.961C>A (p.Gln321Lys) | |
9 | g.95101803G>A | CA466092091 | AOPEP,FANCC | n.410+21023G>A n.2396C>T c.1581C>T (p.Asp527=) c.1726C>T (n.1726C>T) c.900C>T (p.Asp300=) c.1416C>T (p.Asp472=) c.1125C>T (p.Asp375=) c.2319+21023G>A (n.2319+21023G>A) c.960C>T (p.Asp320=) | |
9 | g.95101803G>C | CA374104635 | AOPEP,FANCC | n.410+21023G>C n.2396C>G c.1581C>G (p.Asp527Glu) c.1726C>G (n.1726C>G) c.900C>G (p.Asp300Glu) c.1416C>G (p.Asp472Glu) c.1125C>G (p.Asp375Glu) c.2319+21023G>C (n.2319+21023G>C) c.960C>G (p.Asp320Glu) | |
9 | g.95101803G>T | CA374104637 | AOPEP,FANCC | n.410+21023G>T n.2396C>A c.1581C>A (p.Asp527Glu) c.1726C>A (n.1726C>A) c.900C>A (p.Asp300Glu) c.1416C>A (p.Asp472Glu) c.1125C>A (p.Asp375Glu) c.2319+21023G>T (n.2319+21023G>T) c.960C>A (p.Asp320Glu) | |
9 | g.95101804T>A | CA374104640 | AOPEP,FANCC | n.410+21024T>A n.2395A>T c.1580A>T (p.Asp527Val) c.1725A>T (n.1725A>T) c.899A>T (p.Asp300Val) c.1415A>T (p.Asp472Val) c.1124A>T (p.Asp375Val) c.2319+21024T>A (n.2319+21024T>A) c.959A>T (p.Asp320Val) | dbSNP |
9 | g.95101804T>C | CA374104642 | AOPEP,FANCC | n.410+21024T>C n.2395A>G c.1580A>G (p.Asp527Gly) c.1725A>G (n.1725A>G) c.899A>G (p.Asp300Gly) c.1415A>G (p.Asp472Gly) c.1124A>G (p.Asp375Gly) c.2319+21024T>C (n.2319+21024T>C) c.959A>G (p.Asp320Gly) | |
9 | g.95101804T>G | CA374104644 | AOPEP,FANCC | n.410+21024T>G n.2395A>C c.1580A>C (p.Asp527Ala) c.1725A>C (n.1725A>C) c.899A>C (p.Asp300Ala) c.1415A>C (p.Asp472Ala) c.1124A>C (p.Asp375Ala) c.2319+21024T>G (n.2319+21024T>G) c.959A>C (p.Asp320Ala) | |
9 | g.95101805C>A | CA374104647 | AOPEP,FANCC | n.410+21025C>A n.2394G>T c.1579G>T (p.Asp527Tyr) c.1724G>T (n.1724G>T) c.898G>T (p.Asp300Tyr) c.1414G>T (p.Asp472Tyr) c.1123G>T (p.Asp375Tyr) c.2319+21025C>A (n.2319+21025C>A) c.958G>T (p.Asp320Tyr) | gnomAD v4 |
9 | g.95101805C>G | CA374104652 | AOPEP,FANCC | n.410+21025C>G n.2394G>C c.1579G>C (p.Asp527His) c.1724G>C (n.1724G>C) c.898G>C (p.Asp300His) c.1414G>C (p.Asp472His) c.1123G>C (p.Asp375His) c.2319+21025C>G (n.2319+21025C>G) c.958G>C (p.Asp320His) | |
9 | g.95101805C>T | CA374104649 | AOPEP,FANCC | n.410+21025C>T n.2394G>A c.1579G>A (p.Asp527Asn) c.1724G>A (n.1724G>A) c.898G>A (p.Asp300Asn) c.1414G>A (p.Asp472Asn) c.1123G>A (p.Asp375Asn) c.2319+21025C>T (n.2319+21025C>T) c.958G>A (p.Asp320Asn) | gnomAD v4 |
9 | g.95101806A= | CA1865459558 | AOPEP,FANCC | n.410+21026A= n.2393T= c.1578T= (p.Leu526=) c.1723T= (n.1723T=) c.897T= (p.Leu299=) c.1413T= (p.Leu471=) c.1122T= (p.Leu374=) c.2319+21026A= (n.2319+21026A=) c.957T= (p.Leu319=) | |
9 | g.95101806A>C | CA466092094 | AOPEP,FANCC | n.410+21026A>C n.2393T>G c.1578T>G (p.Leu526=) c.1723T>G (n.1723T>G) c.897T>G (p.Leu299=) c.1413T>G (p.Leu471=) c.1122T>G (p.Leu374=) c.2319+21026A>C (n.2319+21026A>C) c.957T>G (p.Leu319=) | ClinVar dbSNP |
9 | g.95101806A>G | CA466092093 | AOPEP,FANCC | n.410+21026A>G n.2393T>C c.1578T>C (p.Leu526=) c.1723T>C (n.1723T>C) c.897T>C (p.Leu299=) c.1413T>C (p.Leu471=) c.1122T>C (p.Leu374=) c.2319+21026A>G (n.2319+21026A>G) c.957T>C (p.Leu319=) | |
9 | g.95101806A>T | CA466092092 | AOPEP,FANCC | n.410+21026A>T n.2393T>A c.1578T>A (p.Leu526=) c.1723T>A (n.1723T>A) c.897T>A (p.Leu299=) c.1413T>A (p.Leu471=) c.1122T>A (p.Leu374=) c.2319+21026A>T (n.2319+21026A>T) c.957T>A (p.Leu319=) | ClinVar gnomAD v4 |