Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.55810597T>ACA395946719CES1c.1238A>T (p.Lys413Ile)
c.1235A>T (p.Lys412Ile)
c.1232A>T (p.Lys411Ile)
c.59A>T (p.Lys20Ile)
c.72+2306A>T (n.72+2306A>T)
c.473A>T
 dbSNP
16g.55810597T>CCA8062117CES1c.1238A>G (p.Lys413Arg)
c.1235A>G (p.Lys412Arg)
c.1232A>G (p.Lys411Arg)
c.59A>G (p.Lys20Arg)
c.72+2306A>G (n.72+2306A>G)
c.473A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.55810597T>GCA8062118CES1c.1238A>C (p.Lys413Thr)
c.1235A>C (p.Lys412Thr)
c.1232A>C (p.Lys411Thr)
c.59A>C (p.Lys20Thr)
c.72+2306A>C (n.72+2306A>C)
c.473A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.55810597T=CA2223858557CES1c.1238A= (p.Lys413=)
c.1235A= (p.Lys412=)
c.1232A= (p.Lys411=)
c.59A= (p.Lys20=)
c.72+2306A= (n.72+2306A=)
c.473A=
16g.55810598T>ACA395946723CES1c.1237A>T (p.Lys413Ter)
c.1234A>T (p.Lys412Ter)
c.1231A>T (p.Lys411Ter)
c.58A>T (p.Lys20Ter)
c.72+2305A>T (n.72+2305A>T)
c.472A>T
16g.55810598T>CCA395946724CES1c.1237A>G (p.Lys413Glu)
c.1234A>G (p.Lys412Glu)
c.1231A>G (p.Lys411Glu)
c.58A>G (p.Lys20Glu)
c.72+2305A>G (n.72+2305A>G)
c.472A>G
 gnomAD v4
16g.55810598T>GCA395946726CES1c.1237A>C (p.Lys413Gln)
c.1234A>C (p.Lys412Gln)
c.1231A>C (p.Lys411Gln)
c.58A>C (p.Lys20Gln)
c.72+2305A>C (n.72+2305A>C)
c.472A>C
 dbSNP gnomAD v3 gnomAD v4
16g.55810598T=CA2223858558CES1c.1237A= (p.Lys413=)
c.1234A= (p.Lys412=)
c.1231A= (p.Lys411=)
c.58A= (p.Lys20=)
c.72+2305A= (n.72+2305A=)
c.472A=
16g.55810599G>ACA495556282CES1c.1236C>T (p.Val412=)
c.1233C>T (p.Val411=)
c.1230C>T (p.Val410=)
c.57C>T (p.Val19=)
c.72+2304C>T (n.72+2304C>T)
c.471C>T
16g.55810599G>CCA495556281CES1c.1236C>G (p.Val412=)
c.1233C>G (p.Val411=)
c.1230C>G (p.Val410=)
c.57C>G (p.Val19=)
c.72+2304C>G (n.72+2304C>G)
c.471C>G
 gnomAD v4
16g.55810599G>TCA495556279CES1c.1236C>A (p.Val412=)
c.1233C>A (p.Val411=)
c.1230C>A (p.Val410=)
c.57C>A (p.Val19=)
c.72+2304C>A (n.72+2304C>A)
c.471C>A
16g.55810600A>CCA395946728CES1c.1235T>G (p.Val412Gly)
c.1232T>G (p.Val411Gly)
c.1229T>G (p.Val410Gly)
c.56T>G (p.Val19Gly)
c.72+2303T>G (n.72+2303T>G)
c.470T>G
16g.55810600A>GCA395946730CES1c.1235T>C (p.Val412Ala)
c.1232T>C (p.Val411Ala)
c.1229T>C (p.Val410Ala)
c.56T>C (p.Val19Ala)
c.72+2303T>C (n.72+2303T>C)
c.470T>C
16g.55810600A>TCA395946732CES1c.1235T>A (p.Val412Asp)
c.1232T>A (p.Val411Asp)
c.1229T>A (p.Val410Asp)
c.56T>A (p.Val19Asp)
c.72+2303T>A (n.72+2303T>A)
c.470T>A
16g.55810601C>ACA395946734CES1c.1234G>T (p.Val412Phe)
c.1231G>T (p.Val411Phe)
c.1228G>T (p.Val410Phe)
c.55G>T (p.Val19Phe)
c.72+2302G>T (n.72+2302G>T)
c.469G>T
 gnomAD v4
16g.55810601C>GCA395946735CES1c.1234G>C (p.Val412Leu)
c.1231G>C (p.Val411Leu)
c.1228G>C (p.Val410Leu)
c.55G>C (p.Val19Leu)
c.72+2302G>C (n.72+2302G>C)
c.469G>C
16g.55810601C>TCA395946738CES1c.1234G>A (p.Val412Ile)
c.1231G>A (p.Val411Ile)
c.1228G>A (p.Val410Ile)
c.55G>A (p.Val19Ile)
c.72+2302G>A (n.72+2302G>A)
c.469G>A
 gnomAD v4
16g.55810602A>CCA495556298CES1c.1233T>G (p.Thr411=)
c.1230T>G (p.Thr410=)
c.1227T>G (p.Thr409=)
c.54T>G (p.Thr18=)
c.72+2301T>G (n.72+2301T>G)
c.468T>G
16g.55810602A>GCA495556296CES1c.1233T>C (p.Thr411=)
c.1230T>C (p.Thr410=)
c.1227T>C (p.Thr409=)
c.54T>C (p.Thr18=)
c.72+2301T>C (n.72+2301T>C)
c.468T>C
 gnomAD v4
16g.55810602A>TCA495556294CES1c.1233T>A (p.Thr411=)
c.1230T>A (p.Thr410=)
c.1227T>A (p.Thr409=)
c.54T>A (p.Thr18=)
c.72+2301T>A (n.72+2301T>A)
c.468T>A
16g.55810603G>ACA395946743CES1c.1232C>T (p.Thr411Ile)
c.1229C>T (p.Thr410Ile)
c.1226C>T (p.Thr409Ile)
c.53C>T (p.Thr18Ile)
c.72+2300C>T (n.72+2300C>T)
c.467C>T
16g.55810603G>CCA8062119CES1c.1232C>G (p.Thr411Ser)
c.1229C>G (p.Thr410Ser)
c.1226C>G (p.Thr409Ser)
c.53C>G (p.Thr18Ser)
c.72+2300C>G (n.72+2300C>G)
c.467C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.55810603G=CA2223858559CES1c.1232C= (p.Thr411=)
c.1229C= (p.Thr410=)
c.1226C= (p.Thr409=)
c.53C= (p.Thr18=)
c.72+2300C= (n.72+2300C=)
c.467C=
16g.55810603G>TCA395946741CES1c.1232C>A (p.Thr411Asn)
c.1229C>A (p.Thr410Asn)
c.1226C>A (p.Thr409Asn)
c.53C>A (p.Thr18Asn)
c.72+2300C>A (n.72+2300C>A)
c.467C>A
16g.55810604T>ACA395946746CES1c.1231A>T (p.Thr411Ser)
c.1228A>T (p.Thr410Ser)
c.1225A>T (p.Thr409Ser)
c.52A>T (p.Thr18Ser)
c.72+2299A>T (n.72+2299A>T)
c.466A>T
16g.55810604T>CCA8062120CES1c.1231A>G (p.Thr411Ala)
c.1228A>G (p.Thr410Ala)
c.1225A>G (p.Thr409Ala)
c.52A>G (p.Thr18Ala)
c.72+2299A>G (n.72+2299A>G)
c.466A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.55810604T>GCA395946748CES1c.1231A>C (p.Thr411Pro)
c.1228A>C (p.Thr410Pro)
c.1225A>C (p.Thr409Pro)
c.52A>C (p.Thr18Pro)
c.72+2299A>C (n.72+2299A>C)
c.466A>C
 dbSNP gnomAD v4
16g.55810604T=CA2223858560CES1c.1231A= (p.Thr411=)
c.1228A= (p.Thr410=)
c.1225A= (p.Thr409=)
c.52A= (p.Thr18=)
c.72+2299A= (n.72+2299A=)
c.466A=
16g.55810605G>ACA495556315CES1c.1230C>T (p.Asp410=)
c.1227C>T (p.Asp409=)
c.1224C>T (p.Asp408=)
c.51C>T (p.Asp17=)
c.72+2298C>T (n.72+2298C>T)
c.465C>T
16g.55810605G>CCA8062121CES1c.1230C>G (p.Asp410Glu)
c.1227C>G (p.Asp409Glu)
c.1224C>G (p.Asp408Glu)
c.51C>G (p.Asp17Glu)
c.72+2298C>G (n.72+2298C>G)
c.465C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.55810605G=CA2223858561CES1c.1230C= (p.Asp410=)
c.1227C= (p.Asp409=)
c.1224C= (p.Asp408=)
c.51C= (p.Asp17=)
c.72+2298C= (n.72+2298C=)
c.465C=
16g.55810605G>TCA395946752CES1c.1230C>A (p.Asp410Glu)
c.1227C>A (p.Asp409Glu)
c.1224C>A (p.Asp408Glu)
c.51C>A (p.Asp17Glu)
c.72+2298C>A (n.72+2298C>A)
c.465C>A
16g.55810606T>ACA395946759CES1c.1229A>T (p.Asp410Val)
c.1226A>T (p.Asp409Val)
c.1223A>T (p.Asp408Val)
c.50A>T (p.Asp17Val)
c.72+2297A>T (n.72+2297A>T)
c.464A>T
16g.55810606T>CCA395946754CES1c.1229A>G (p.Asp410Gly)
c.1226A>G (p.Asp409Gly)
c.1223A>G (p.Asp408Gly)
c.50A>G (p.Asp17Gly)
c.72+2297A>G (n.72+2297A>G)
c.464A>G
 gnomAD v4
16g.55810606T>GCA395946756CES1c.1229A>C (p.Asp410Ala)
c.1226A>C (p.Asp409Ala)
c.1223A>C (p.Asp408Ala)
c.50A>C (p.Asp17Ala)
c.72+2297A>C (n.72+2297A>C)
c.464A>C
16g.55810607C>ACA395946762CES1c.1228G>T (p.Asp410Tyr)
c.1225G>T (p.Asp409Tyr)
c.1222G>T (p.Asp408Tyr)
c.49G>T (p.Asp17Tyr)
c.72+2296G>T (n.72+2296G>T)
c.463G>T
16g.55810607C=CA2223858562CES1c.1228G= (p.Asp410=)
c.1225G= (p.Asp409=)
c.1222G= (p.Asp408=)
c.49G= (p.Asp17=)
c.72+2296G= (n.72+2296G=)
c.463G=
16g.55810607C>GCA395946769CES1c.1228G>C (p.Asp410His)
c.1225G>C (p.Asp409His)
c.1222G>C (p.Asp408His)
c.49G>C (p.Asp17His)
c.72+2296G>C (n.72+2296G>C)
c.463G>C
16g.55810607C>TCA395946771CES1c.1228G>A (p.Asp410Asn)
c.1225G>A (p.Asp409Asn)
c.1222G>A (p.Asp408Asn)
c.49G>A (p.Asp17Asn)
c.72+2296G>A (n.72+2296G>A)
c.463G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.55810608G>ACA8062122CES1c.1227C>T (p.Asp409=)
c.1224C>T (p.Asp408=)
c.1221C>T (p.Asp407=)
c.48C>T (p.Asp16=)
c.72+2295C>T (n.72+2295C>T)
c.462C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.55810608G>CCA8062123CES1c.1227C>G (p.Asp409Glu)
c.1224C>G (p.Asp408Glu)
c.1221C>G (p.Asp407Glu)
c.48C>G (p.Asp16Glu)
c.72+2295C>G (n.72+2295C>G)
c.462C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.55810608G=CA2223858563CES1c.1227C= (p.Asp409=)
c.1224C= (p.Asp408=)
c.1221C= (p.Asp407=)
c.48C= (p.Asp16=)
c.72+2295C= (n.72+2295C=)
c.462C=
16g.55810608G>TCA395946776CES1c.1227C>A (p.Asp409Glu)
c.1224C>A (p.Asp408Glu)
c.1221C>A (p.Asp407Glu)
c.48C>A (p.Asp16Glu)
c.72+2295C>A (n.72+2295C>A)
c.462C>A
 dbSNP gnomAD v3 gnomAD v4
16g.55810609T>ACA395946783CES1c.1226A>T (p.Asp409Val)
c.1223A>T (p.Asp408Val)
c.1220A>T (p.Asp407Val)
c.47A>T (p.Asp16Val)
c.72+2294A>T (n.72+2294A>T)
c.461A>T
16g.55810609T>CCA395946784CES1c.1226A>G (p.Asp409Gly)
c.1223A>G (p.Asp408Gly)
c.1220A>G (p.Asp407Gly)
c.47A>G (p.Asp16Gly)
c.72+2294A>G (n.72+2294A>G)
c.461A>G
16g.55810609T>GCA395946780CES1c.1226A>C (p.Asp409Ala)
c.1223A>C (p.Asp408Ala)
c.1220A>C (p.Asp407Ala)
c.47A>C (p.Asp16Ala)
c.72+2294A>C (n.72+2294A>C)
c.461A>C
16g.55810610C>ACA395946786CES1c.1225G>T (p.Asp409Tyr)
c.1222G>T (p.Asp408Tyr)
c.1219G>T (p.Asp407Tyr)
c.46G>T (p.Asp16Tyr)
c.72+2293G>T (n.72+2293G>T)
c.460G>T
16g.55810610C>GCA395946785CES1c.1225G>C (p.Asp409His)
c.1222G>C (p.Asp408His)
c.1219G>C (p.Asp407His)
c.46G>C (p.Asp16His)
c.72+2293G>C (n.72+2293G>C)
c.460G>C
 gnomAD v4
16g.55810610C>TCA395946787CES1c.1225G>A (p.Asp409Asn)
c.1222G>A (p.Asp408Asn)
c.1219G>A (p.Asp407Asn)
c.46G>A (p.Asp16Asn)
c.72+2293G>A (n.72+2293G>A)
c.460G>A
 gnomAD v4
16g.55810611T>ACA495556355CES1c.1224A>T (p.Thr408=)
c.1221A>T (p.Thr407=)
c.1218A>T (p.Thr406=)
c.45A>T (p.Thr15=)
c.72+2292A>T (n.72+2292A>T)
c.459A>T
16g.55810611T>CCA8062124CES1c.1224A>G (p.Thr408=)
c.1221A>G (p.Thr407=)
c.1218A>G (p.Thr406=)
c.45A>G (p.Thr15=)
c.72+2292A>G (n.72+2292A>G)
c.459A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.55810611T>GCA495556365CES1c.1224A>C (p.Thr408=)
c.1221A>C (p.Thr407=)
c.1218A>C (p.Thr406=)
c.45A>C (p.Thr15=)
c.72+2292A>C (n.72+2292A>C)
c.459A>C
16g.55810611T=CA2223858564CES1c.1224A= (p.Thr408=)
c.1221A= (p.Thr407=)
c.1218A= (p.Thr406=)
c.45A= (p.Thr15=)
c.72+2292A= (n.72+2292A=)
c.459A=
16g.55810612G>ACA395946790CES1c.1223C>T (p.Thr408Ile)
c.1220C>T (p.Thr407Ile)
c.1217C>T (p.Thr406Ile)
c.44C>T (p.Thr15Ile)
c.72+2291C>T (n.72+2291C>T)
c.458C>T
 COSMIC
16g.55810612G>CCA8062125CES1c.1223C>G (p.Thr408Arg)
c.1220C>G (p.Thr407Arg)
c.1217C>G (p.Thr406Arg)
c.44C>G (p.Thr15Arg)
c.72+2291C>G (n.72+2291C>G)
c.458C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.55810612G=CA2223858565CES1c.1223C= (p.Thr408=)
c.1220C= (p.Thr407=)
c.1217C= (p.Thr406=)
c.44C= (p.Thr15=)
c.72+2291C= (n.72+2291C=)
c.458C=
16g.55810612G>TCA395946793CES1c.1223C>A (p.Thr408Lys)
c.1220C>A (p.Thr407Lys)
c.1217C>A (p.Thr406Lys)
c.44C>A (p.Thr15Lys)
c.72+2291C>A (n.72+2291C>A)
c.458C>A
 COSMIC
16g.55810612_55810616delCA2575997078CES1c.1219_1223del (p.Gly407ArgfsTer?)
c.1216_1220del (p.Gly406ArgfsTer?)
c.1213_1217del (p.Gly405ArgfsTer?)
c.40_44del (p.Gly14ArgfsTer?)
c.72+2287_72+2291del (n.72+2287_72+2291del)
c.454_458del
16g.55810613T>ACA395946795CES1c.1222A>T (p.Thr408Ser)
c.1219A>T (p.Thr407Ser)
c.1216A>T (p.Thr406Ser)
c.43A>T (p.Thr15Ser)
c.72+2290A>T (n.72+2290A>T)
c.457A>T
16g.55810613T>CCA395946797CES1c.1222A>G (p.Thr408Ala)
c.1219A>G (p.Thr407Ala)
c.1216A>G (p.Thr406Ala)
c.43A>G (p.Thr15Ala)
c.72+2290A>G (n.72+2290A>G)
c.457A>G
 gnomAD v4
16g.55810613T>GCA395946799CES1c.1222A>C (p.Thr408Pro)
c.1219A>C (p.Thr407Pro)
c.1216A>C (p.Thr406Pro)
c.43A>C (p.Thr15Pro)
c.72+2290A>C (n.72+2290A>C)
c.457A>C
16g.55810614T>ACA495556377CES1c.1221A>T (p.Gly407=)
c.1218A>T (p.Gly406=)
c.1215A>T (p.Gly405=)
c.42A>T (p.Gly14=)
c.72+2289A>T (n.72+2289A>T)
c.456A>T
16g.55810614T>CCA495556383CES1c.1221A>G (p.Gly407=)
c.1218A>G (p.Gly406=)
c.1215A>G (p.Gly405=)
c.42A>G (p.Gly14=)
c.72+2289A>G (n.72+2289A>G)
c.456A>G
16g.55810614T>GCA495556392CES1c.1221A>C (p.Gly407=)
c.1218A>C (p.Gly406=)
c.1215A>C (p.Gly405=)
c.42A>C (p.Gly14=)
c.72+2289A>C (n.72+2289A>C)
c.456A>C
16g.55810615C>ACA395946801CES1c.1220G>T (p.Gly407Val)
c.1217G>T (p.Gly406Val)
c.1214G>T (p.Gly405Val)
c.41G>T (p.Gly14Val)
c.72+2288G>T (n.72+2288G>T)
c.455G>T
16g.55810615C>GCA395946802CES1c.1220G>C (p.Gly407Ala)
c.1217G>C (p.Gly406Ala)
c.1214G>C (p.Gly405Ala)
c.41G>C (p.Gly14Ala)
c.72+2288G>C (n.72+2288G>C)
c.455G>C
16g.55810615C>TCA395946804CES1c.1220G>A (p.Gly407Glu)
c.1217G>A (p.Gly406Glu)
c.1214G>A (p.Gly405Glu)
c.41G>A (p.Gly14Glu)
c.72+2288G>A (n.72+2288G>A)
c.455G>A
16g.55810616C>ACA395946806CES1c.1219G>T (p.Gly407Ter)
c.1216G>T (p.Gly406Ter)
c.1213G>T (p.Gly405Ter)
c.40G>T (p.Gly14Ter)
c.72+2287G>T (n.72+2287G>T)
c.454G>T
16g.55810616C=CA2223858566CES1c.1219G= (p.Gly407=)
c.1216G= (p.Gly406=)
c.1213G= (p.Gly405=)
c.40G= (p.Gly14=)
c.72+2287G= (n.72+2287G=)
c.454G=
16g.55810616C>GCA395946807CES1c.1219G>C (p.Gly407Arg)
c.1216G>C (p.Gly406Arg)
c.1213G>C (p.Gly405Arg)
c.40G>C (p.Gly14Arg)
c.72+2287G>C (n.72+2287G>C)
c.454G>C
16g.55810616C>TCA8062126CES1c.1219G>A (p.Gly407Arg)
c.1216G>A (p.Gly406Arg)
c.1213G>A (p.Gly405Arg)
c.40G>A (p.Gly14Arg)
c.72+2287G>A (n.72+2287G>A)
c.454G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.55810617T>ACA495556419CES1c.1218A>T (p.Gly406=)
c.1215A>T (p.Gly405=)
c.1212A>T (p.Gly404=)
c.39A>T (p.Gly13=)
c.72+2286A>T (n.72+2286A>T)
c.453A>T
16g.55810617T>CCA8062127CES1c.1218A>G (p.Gly406=)
c.1215A>G (p.Gly405=)
c.1212A>G (p.Gly404=)
c.39A>G (p.Gly13=)
c.72+2286A>G (n.72+2286A>G)
c.453A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.55810617T>GCA495556425CES1c.1218A>C (p.Gly406=)
c.1215A>C (p.Gly405=)
c.1212A>C (p.Gly404=)
c.39A>C (p.Gly13=)
c.72+2286A>C (n.72+2286A>C)
c.453A>C
16g.55810617T=CA2223858567CES1c.1218A= (p.Gly406=)
c.1215A= (p.Gly405=)
c.1212A= (p.Gly404=)
c.39A= (p.Gly13=)
c.72+2286A= (n.72+2286A=)
c.453A=
16g.55810618C>ACA395946811CES1c.1217G>T (p.Gly406Val)
c.1214G>T (p.Gly405Val)
c.1211G>T (p.Gly404Val)
c.38G>T (p.Gly13Val)
c.72+2285G>T (n.72+2285G>T)
c.452G>T
 COSMIC
16g.55810618C=CA2223858568CES1c.1217G= (p.Gly406=)
c.1214G= (p.Gly405=)
c.1211G= (p.Gly404=)
c.38G= (p.Gly13=)
c.72+2285G= (n.72+2285G=)
c.452G=
16g.55810618C>GCA395946819CES1c.1217G>C (p.Gly406Ala)
c.1214G>C (p.Gly405Ala)
c.1211G>C (p.Gly404Ala)
c.38G>C (p.Gly13Ala)
c.72+2285G>C (n.72+2285G>C)
c.452G>C
16g.55810618C>TCA395946822CES1c.1217G>A (p.Gly406Glu)
c.1214G>A (p.Gly405Glu)
c.1211G>A (p.Gly404Glu)
c.38G>A (p.Gly13Glu)
c.72+2285G>A (n.72+2285G>A)
c.452G>A
 dbSNP gnomAD v4
16g.55810619C>ACA395946823CES1c.1216G>T (p.Gly406Ter)
c.1213G>T (p.Gly405Ter)
c.1210G>T (p.Gly404Ter)
c.37G>T (p.Gly13Ter)
c.72+2284G>T (n.72+2284G>T)
c.451G>T
16g.55810619C>GCA395946826CES1c.1216G>C (p.Gly406Arg)
c.1213G>C (p.Gly405Arg)
c.1210G>C (p.Gly404Arg)
c.37G>C (p.Gly13Arg)
c.72+2284G>C (n.72+2284G>C)
c.451G>C
16g.55810619C>TCA395946828CES1c.1216G>A (p.Gly406Arg)
c.1213G>A (p.Gly405Arg)
c.1210G>A (p.Gly404Arg)
c.37G>A (p.Gly13Arg)
c.72+2284G>A (n.72+2284G>A)
c.451G>A
 gnomAD v4
16g.55810620T>ACA395946829CES1c.1215A>T (p.Leu405Phe)
c.1212A>T (p.Leu404Phe)
c.1209A>T (p.Leu403Phe)
c.36A>T (p.Leu12Phe)
c.72+2283A>T (n.72+2283A>T)
c.450A>T
16g.55810620T>CCA281410859CES1c.1215A>G (p.Leu405=)
c.1212A>G (p.Leu404=)
c.1209A>G (p.Leu403=)
c.36A>G (p.Leu12=)
c.72+2283A>G (n.72+2283A>G)
c.450A>G
 dbSNP gnomAD v4
16g.55810620T>GCA395946831CES1c.1215A>C (p.Leu405Phe)
c.1212A>C (p.Leu404Phe)
c.1209A>C (p.Leu403Phe)
c.36A>C (p.Leu12Phe)
c.72+2283A>C (n.72+2283A>C)
c.450A>C
 dbSNP
16g.55810620T=CA2223858569CES1c.1215A= (p.Leu405=)
c.1212A= (p.Leu404=)
c.1209A= (p.Leu403=)
c.36A= (p.Leu12=)
c.72+2283A= (n.72+2283A=)
c.450A=
16g.55810621A=CA2223858570CES1c.1214T= (p.Leu405=)
c.1211T= (p.Leu404=)
c.1208T= (p.Leu403=)
c.35T= (p.Leu12=)
c.72+2282T= (n.72+2282T=)
c.449T=
16g.55810621A>CCA395946834CES1c.1214T>G (p.Leu405Ter)
c.1211T>G (p.Leu404Ter)
c.1208T>G (p.Leu403Ter)
c.35T>G (p.Leu12Ter)
c.72+2282T>G (n.72+2282T>G)
c.449T>G
 dbSNP
16g.55810621A>GCA281410860CES1c.1214T>C (p.Leu405Ser)
c.1211T>C (p.Leu404Ser)
c.1208T>C (p.Leu403Ser)
c.35T>C (p.Leu12Ser)
c.72+2282T>C (n.72+2282T>C)
c.449T>C
 dbSNP gnomAD v4
16g.55810621A>TCA395946838CES1c.1214T>A (p.Leu405Ter)
c.1211T>A (p.Leu404Ter)
c.1208T>A (p.Leu403Ter)
c.35T>A (p.Leu12Ter)
c.72+2282T>A (n.72+2282T>A)
c.449T>A
16g.55810622A>CCA395946840CES1c.1213T>G (p.Leu405Val)
c.1210T>G (p.Leu404Val)
c.1207T>G (p.Leu403Val)
c.34T>G (p.Leu12Val)
c.72+2281T>G (n.72+2281T>G)
c.448T>G
16g.55810622A>GCA495556469CES1c.1213T>C (p.Leu405=)
c.1210T>C (p.Leu404=)
c.1207T>C (p.Leu403=)
c.34T>C (p.Leu12=)
c.72+2281T>C (n.72+2281T>C)
c.448T>C
 gnomAD v4
16g.55810622A>TCA395946843CES1c.1213T>A (p.Leu405Ile)
c.1210T>A (p.Leu404Ile)
c.1207T>A (p.Leu403Ile)
c.34T>A (p.Leu12Ile)
c.72+2281T>A (n.72+2281T>A)
c.448T>A
16g.55810623G>ACA495556474CES1c.1212C>T (p.Tyr404=)
c.1209C>T (p.Tyr403=)
c.1206C>T (p.Tyr402=)
c.33C>T (p.Tyr11=)
c.72+2280C>T (n.72+2280C>T)
c.447C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.55810623G>CCA395946846CES1c.1212C>G (p.Tyr404Ter)
c.1209C>G (p.Tyr403Ter)
c.1206C>G (p.Tyr402Ter)
c.33C>G (p.Tyr11Ter)
c.72+2280C>G (n.72+2280C>G)
c.447C>G
16g.55810623G=CA2223858571CES1c.1212C= (p.Tyr404=)
c.1209C= (p.Tyr403=)
c.1206C= (p.Tyr402=)
c.33C= (p.Tyr11=)
c.72+2280C= (n.72+2280C=)
c.447C=
16g.55810623G>TCA395946853CES1c.1212C>A (p.Tyr404Ter)
c.1209C>A (p.Tyr403Ter)
c.1206C>A (p.Tyr402Ter)
c.33C>A (p.Tyr11Ter)
c.72+2280C>A (n.72+2280C>A)
c.447C>A
16g.55810624T>ACA395946855CES1c.1211A>T (p.Tyr404Phe)
c.1208A>T (p.Tyr403Phe)
c.1205A>T (p.Tyr402Phe)
c.32A>T (p.Tyr11Phe)
c.72+2279A>T (n.72+2279A>T)
c.446A>T
16g.55810624T>CCA395946858CES1c.1211A>G (p.Tyr404Cys)
c.1208A>G (p.Tyr403Cys)
c.1205A>G (p.Tyr402Cys)
c.32A>G (p.Tyr11Cys)
c.72+2279A>G (n.72+2279A>G)
c.446A>G
16g.55810624T>GCA395946861CES1c.1211A>C (p.Tyr404Ser)
c.1208A>C (p.Tyr403Ser)
c.1205A>C (p.Tyr402Ser)
c.32A>C (p.Tyr11Ser)
c.72+2279A>C (n.72+2279A>C)
c.446A>C
16g.55810625A=CA2223858572CES1c.1210T= (p.Tyr404=)
c.1207T= (p.Tyr403=)
c.1204T= (p.Tyr402=)
c.31T= (p.Tyr11=)
c.72+2278T= (n.72+2278T=)
c.445T=
16g.55810625A>CCA395946864CES1c.1210T>G (p.Tyr404Asp)
c.1207T>G (p.Tyr403Asp)
c.1204T>G (p.Tyr402Asp)
c.31T>G (p.Tyr11Asp)
c.72+2278T>G (n.72+2278T>G)
c.445T>G
16g.55810625A>GCA8062128CES1c.1210T>C (p.Tyr404His)
c.1207T>C (p.Tyr403His)
c.1204T>C (p.Tyr402His)
c.31T>C (p.Tyr11His)
c.72+2278T>C (n.72+2278T>C)
c.445T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.55810625A>TCA395946866CES1c.1210T>A (p.Tyr404Asn)
c.1207T>A (p.Tyr403Asn)
c.1204T>A (p.Tyr402Asn)
c.31T>A (p.Tyr11Asn)
c.72+2278T>A (n.72+2278T>A)
c.445T>A
16g.55810625_55810628delinsATTTCA2223858573CES1c.1207_1210delinsAAAT (p.Lys403=)
c.1204_1207delinsAAAT (p.Lys402=)
c.1201_1204delinsAAAT (p.Lys401=)
c.28_31delinsAAAT (p.Lys10=)
c.72+2275_72+2278delinsAAAT (n.72+2275_72+2278delinsAAAT)
c.442_445delinsAAAT
16g.55810626T>ACA395946869CES1c.1209A>T (p.Lys403Asn)
c.1206A>T (p.Lys402Asn)
c.1203A>T (p.Lys401Asn)
c.30A>T (p.Lys10Asn)
c.72+2277A>T (n.72+2277A>T)
c.444A>T
16g.55810626T>CCA495556491CES1c.1209A>G (p.Lys403=)
c.1206A>G (p.Lys402=)
c.1203A>G (p.Lys401=)
c.30A>G (p.Lys10=)
c.72+2277A>G (n.72+2277A>G)
c.444A>G
16g.55810626T>GCA395946871CES1c.1209A>C (p.Lys403Asn)
c.1206A>C (p.Lys402Asn)
c.1203A>C (p.Lys401Asn)
c.30A>C (p.Lys10Asn)
c.72+2277A>C (n.72+2277A>C)
c.444A>C
 dbSNP gnomAD v2 gnomAD v4
16g.55810626T=CA2223858574CES1c.1209A= (p.Lys403=)
c.1206A= (p.Lys402=)
c.1203A= (p.Lys401=)
c.30A= (p.Lys10=)
c.72+2277A= (n.72+2277A=)
c.444A=
16g.55810626_55810628delCA919712106CES1c.1207_1209del (p.Lys403del)
c.1204_1206del (p.Lys402del)
c.1201_1203del (p.Lys401del)
c.28_30del (p.Lys10del)
c.72+2275_72+2277del (n.72+2275_72+2277del)
c.442_444del
 dbSNP
16g.55810627T>ACA8062129CES1c.1208A>T (p.Lys403Ile)
c.1205A>T (p.Lys402Ile)
c.1202A>T (p.Lys401Ile)
c.29A>T (p.Lys10Ile)
c.72+2276A>T (n.72+2276A>T)
c.443A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.55810627T>CCA395946876CES1c.1208A>G (p.Lys403Arg)
c.1205A>G (p.Lys402Arg)
c.1202A>G (p.Lys401Arg)
c.29A>G (p.Lys10Arg)
c.72+2276A>G (n.72+2276A>G)
c.443A>G
16g.55810627T>GCA395946878CES1c.1208A>C (p.Lys403Thr)
c.1205A>C (p.Lys402Thr)
c.1202A>C (p.Lys401Thr)
c.29A>C (p.Lys10Thr)
c.72+2276A>C (n.72+2276A>C)
c.443A>C
16g.55810627T=CA2223858575CES1c.1208A= (p.Lys403=)
c.1205A= (p.Lys402=)
c.1202A= (p.Lys401=)
c.29A= (p.Lys10=)
c.72+2276A= (n.72+2276A=)
c.443A=
16g.55810628T>ACA395946881CES1c.1207A>T (p.Lys403Ter)
c.1204A>T (p.Lys402Ter)
c.1201A>T (p.Lys401Ter)
c.28A>T (p.Lys10Ter)
c.72+2275A>T (n.72+2275A>T)
c.442A>T
 COSMIC
16g.55810628T>CCA395946883CES1c.1207A>G (p.Lys403Glu)
c.1204A>G (p.Lys402Glu)
c.1201A>G (p.Lys401Glu)
c.28A>G (p.Lys10Glu)
c.72+2275A>G (n.72+2275A>G)
c.442A>G
16g.55810628T>GCA395946891CES1c.1207A>C (p.Lys403Gln)
c.1204A>C (p.Lys402Gln)
c.1201A>C (p.Lys401Gln)
c.28A>C (p.Lys10Gln)
c.72+2275A>C (n.72+2275A>C)
c.442A>C
 gnomAD v4
16g.55810629C>ACA395946898CES1c.1206G>T (p.Glu402Asp)
c.1203G>T (p.Glu401Asp)
c.1200G>T (p.Glu400Asp)
c.27G>T (p.Glu9Asp)
c.72+2274G>T (n.72+2274G>T)
c.441G>T
 COSMIC
16g.55810629C>GCA395946895CES1c.1206G>C (p.Glu402Asp)
c.1203G>C (p.Glu401Asp)
c.1200G>C (p.Glu400Asp)
c.27G>C (p.Glu9Asp)
c.72+2274G>C (n.72+2274G>C)
c.441G>C
16g.55810629C>TCA495556522CES1c.1206G>A (p.Glu402=)
c.1203G>A (p.Glu401=)
c.1200G>A (p.Glu400=)
c.27G>A (p.Glu9=)
c.72+2274G>A (n.72+2274G>A)
c.441G>A
 gnomAD v4
16g.55810630T>ACA395946901CES1c.1205A>T (p.Glu402Val)
c.1202A>T (p.Glu401Val)
c.1199A>T (p.Glu400Val)
c.26A>T (p.Glu9Val)
c.72+2273A>T (n.72+2273A>T)
c.440A>T
16g.55810630T>CCA395946904CES1c.1205A>G (p.Glu402Gly)
c.1202A>G (p.Glu401Gly)
c.1199A>G (p.Glu400Gly)
c.26A>G (p.Glu9Gly)
c.72+2273A>G (n.72+2273A>G)
c.440A>G
16g.55810630T>GCA395946905CES1c.1205A>C (p.Glu402Ala)
c.1202A>C (p.Glu401Ala)
c.1199A>C (p.Glu400Ala)
c.26A>C (p.Glu9Ala)
c.72+2273A>C (n.72+2273A>C)
c.440A>C
16g.55810631C>ACA281410882CES1c.1204G>T (p.Glu402Ter)
c.1201G>T (p.Glu401Ter)
c.1198G>T (p.Glu400Ter)
c.25G>T (p.Glu9Ter)
c.72+2272G>T (n.72+2272G>T)
c.439G>T
 dbSNP
16g.55810631C=CA2223858576CES1c.1204G= (p.Glu402=)
c.1201G= (p.Glu401=)
c.1198G= (p.Glu400=)
c.25G= (p.Glu9=)
c.72+2272G= (n.72+2272G=)
c.439G=
16g.55810631C>GCA395946906CES1c.1204G>C (p.Glu402Gln)
c.1201G>C (p.Glu401Gln)
c.1198G>C (p.Glu400Gln)
c.25G>C (p.Glu9Gln)
c.72+2272G>C (n.72+2272G>C)
c.439G>C
 gnomAD v4
16g.55810631C>TCA395946907CES1c.1204G>A (p.Glu402Lys)
c.1201G>A (p.Glu401Lys)
c.1198G>A (p.Glu400Lys)
c.25G>A (p.Glu9Lys)
c.72+2272G>A (n.72+2272G>A)
c.439G>A
 gnomAD v4
16g.55810632A>CCA495556539CES1c.1203T>G (p.Thr401=)
c.1200T>G (p.Thr400=)
c.1197T>G (p.Thr399=)
c.24T>G (p.Thr8=)
c.72+2271T>G (n.72+2271T>G)
c.438T>G
 gnomAD v4
16g.55810632A>GCA495556544CES1c.1203T>C (p.Thr401=)
c.1200T>C (p.Thr400=)
c.1197T>C (p.Thr399=)
c.24T>C (p.Thr8=)
c.72+2271T>C (n.72+2271T>C)
c.438T>C
16g.55810632A>TCA495556541CES1c.1203T>A (p.Thr401=)
c.1200T>A (p.Thr400=)
c.1197T>A (p.Thr399=)
c.24T>A (p.Thr8=)
c.72+2271T>A (n.72+2271T>A)
c.438T>A
16g.55810633G>ACA395946908CES1c.1202C>T (p.Thr401Ile)
c.1199C>T (p.Thr400Ile)
c.1196C>T (p.Thr399Ile)
c.23C>T (p.Thr8Ile)
c.72+2270C>T (n.72+2270C>T)
c.437C>T
 dbSNP gnomAD v3 gnomAD v4
16g.55810633G>CCA395946911CES1c.1202C>G (p.Thr401Ser)
c.1199C>G (p.Thr400Ser)
c.1196C>G (p.Thr399Ser)
c.23C>G (p.Thr8Ser)
c.72+2270C>G (n.72+2270C>G)
c.437C>G
16g.55810633G=CA2223858577CES1c.1202C= (p.Thr401=)
c.1199C= (p.Thr400=)
c.1196C= (p.Thr399=)
c.23C= (p.Thr8=)
c.72+2270C= (n.72+2270C=)
c.437C=
16g.55810633G>TCA395946913CES1c.1202C>A (p.Thr401Asn)
c.1199C>A (p.Thr400Asn)
c.1196C>A (p.Thr399Asn)
c.23C>A (p.Thr8Asn)
c.72+2270C>A (n.72+2270C>A)
c.437C>A
16g.55810634T>ACA8062130CES1c.1201A>T (p.Thr401Ser)
c.1198A>T (p.Thr400Ser)
c.1195A>T (p.Thr399Ser)
c.22A>T (p.Thr8Ser)
c.72+2269A>T (n.72+2269A>T)
c.436A>T
 dbSNP ExAC gnomAD v2
16g.55810634T>CCA281410889CES1c.1201A>G (p.Thr401Ala)
c.1198A>G (p.Thr400Ala)
c.1195A>G (p.Thr399Ala)
c.22A>G (p.Thr8Ala)
c.72+2269A>G (n.72+2269A>G)
c.436A>G
 dbSNP
16g.55810634T>GCA395946919CES1c.1201A>C (p.Thr401Pro)
c.1198A>C (p.Thr400Pro)
c.1195A>C (p.Thr399Pro)
c.22A>C (p.Thr8Pro)
c.72+2269A>C (n.72+2269A>C)
c.436A>C
16g.55810634T=CA2223858578CES1c.1201A= (p.Thr401=)
c.1198A= (p.Thr400=)
c.1195A= (p.Thr399=)
c.22A= (p.Thr8=)
c.72+2269A= (n.72+2269A=)
c.436A=
16g.55810634_55810635delinsTGCA2223858579CES1c.1200_1201delinsCA (p.Ala400=)
c.1197_1198delinsCA (p.Ala399=)
c.1194_1195delinsCA (p.Ala398=)
c.21_22delinsCA (p.Ala7=)
c.72+2268_72+2269delinsCA (n.72+2268_72+2269delinsCA)
c.435_436delinsCA
16g.55810635G>ACA8062131CES1c.1200C>T (p.Ala400=)
c.1197C>T (p.Ala399=)
c.1194C>T (p.Ala398=)
c.21C>T (p.Ala7=)
c.72+2268C>T (n.72+2268C>T)
c.435C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.55810635G>CCA495556588CES1c.1200C>G (p.Ala400=)
c.1197C>G (p.Ala399=)
c.1194C>G (p.Ala398=)
c.21C>G (p.Ala7=)
c.72+2268C>G (n.72+2268C>G)
c.435C>G
16g.55810635G=CA2223858580CES1c.1200C= (p.Ala400=)
c.1197C= (p.Ala399=)
c.1194C= (p.Ala398=)
c.21C= (p.Ala7=)
c.72+2268C= (n.72+2268C=)
c.435C=
16g.55810635G>TCA495556591CES1c.1200C>A (p.Ala400=)
c.1197C>A (p.Ala399=)
c.1194C>A (p.Ala398=)
c.21C>A (p.Ala7=)
c.72+2268C>A (n.72+2268C>A)
c.435C>A
 COSMIC
16g.55810636delCA721852144CES1c.1200del (p.Thr401LeufsTer5)
c.1197del (p.Thr400LeufsTer5)
c.1194del (p.Thr399LeufsTer5)
c.21del (p.Thr8LeufsTer5)
c.72+2268del (n.72+2268del)
c.435del
 dbSNP gnomAD v3 gnomAD v4
16g.55810636G>ACA395946923CES1c.1199C>T (p.Ala400Val)
c.1196C>T (p.Ala399Val)
c.1193C>T (p.Ala398Val)
c.20C>T (p.Ala7Val)
c.72+2267C>T (n.72+2267C>T)
c.434C>T
16g.55810636G>CCA395946927CES1c.1199C>G (p.Ala400Gly)
c.1196C>G (p.Ala399Gly)
c.1193C>G (p.Ala398Gly)
c.20C>G (p.Ala7Gly)
c.72+2267C>G (n.72+2267C>G)
c.434C>G
16g.55810636G>TCA395946925CES1c.1199C>A (p.Ala400Asp)
c.1196C>A (p.Ala399Asp)
c.1193C>A (p.Ala398Asp)
c.20C>A (p.Ala7Asp)
c.72+2267C>A (n.72+2267C>A)
c.434C>A
16g.55810637C>ACA8062132CES1c.1198G>T (p.Ala400Ser)
c.1195G>T (p.Ala399Ser)
c.1192G>T (p.Ala398Ser)
c.19G>T (p.Ala7Ser)
c.72+2266G>T (n.72+2266G>T)
c.433G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.55810637C=CA2223858581CES1c.1198G= (p.Ala400=)
c.1195G= (p.Ala399=)
c.1192G= (p.Ala398=)
c.19G= (p.Ala7=)
c.72+2266G= (n.72+2266G=)
c.433G=
16g.55810637C>GCA395946931CES1c.1198G>C (p.Ala400Pro)
c.1195G>C (p.Ala399Pro)
c.1192G>C (p.Ala398Pro)
c.19G>C (p.Ala7Pro)
c.72+2266G>C (n.72+2266G>C)
c.433G>C
16g.55810637C>TCA395946930CES1c.1198G>A (p.Ala400Thr)
c.1195G>A (p.Ala399Thr)
c.1192G>A (p.Ala398Thr)
c.19G>A (p.Ala7Thr)
c.72+2266G>A (n.72+2266G>A)
c.433G>A
 dbSNP gnomAD v4
16g.55810638T>ACA395946932CES1c.1197A>T (p.Glu399Asp)
c.1194A>T (p.Glu398Asp)
c.1191A>T (p.Glu397Asp)
c.18A>T (p.Glu6Asp)
c.72+2265A>T (n.72+2265A>T)
c.432A>T
16g.55810638T>CCA281410899CES1c.1197A>G (p.Glu399=)
c.1194A>G (p.Glu398=)
c.1191A>G (p.Glu397=)
c.18A>G (p.Glu6=)
c.72+2265A>G (n.72+2265A>G)
c.432A>G
 dbSNP gnomAD v3 gnomAD v4
16g.55810638T>GCA395946933CES1c.1197A>C (p.Glu399Asp)
c.1194A>C (p.Glu398Asp)
c.1191A>C (p.Glu397Asp)
c.18A>C (p.Glu6Asp)
c.72+2265A>C (n.72+2265A>C)
c.432A>C
16g.55810638T=CA2223858582CES1c.1197A= (p.Glu399=)
c.1194A= (p.Glu398=)
c.1191A= (p.Glu397=)
c.18A= (p.Glu6=)
c.72+2265A= (n.72+2265A=)
c.432A=
16g.55810639T>ACA395946935CES1c.1196A>T (p.Glu399Val)
c.1193A>T (p.Glu398Val)
c.1190A>T (p.Glu397Val)
c.17A>T (p.Glu6Val)
c.72+2264A>T (n.72+2264A>T)
c.431A>T
16g.55810639T>CCA395946938CES1c.1196A>G (p.Glu399Gly)
c.1193A>G (p.Glu398Gly)
c.1190A>G (p.Glu397Gly)
c.17A>G (p.Glu6Gly)
c.72+2264A>G (n.72+2264A>G)
c.431A>G
16g.55810639T>GCA395946936CES1c.1196A>C (p.Glu399Ala)
c.1193A>C (p.Glu398Ala)
c.1190A>C (p.Glu397Ala)
c.17A>C (p.Glu6Ala)
c.72+2264A>C (n.72+2264A>C)
c.431A>C
16g.55810640C>ACA395946940CES1c.1195G>T (p.Glu399Ter)
c.1192G>T (p.Glu398Ter)
c.1189G>T (p.Glu397Ter)
c.16G>T (p.Glu6Ter)
c.72+2263G>T (n.72+2263G>T)
c.430G>T
16g.55810640C=CA2223858583CES1c.1195G= (p.Glu399=)
c.1192G= (p.Glu398=)
c.1189G= (p.Glu397=)
c.16G= (p.Glu6=)
c.72+2263G= (n.72+2263G=)
c.430G=
16g.55810640C>GCA395946943CES1c.1195G>C (p.Glu399Gln)
c.1192G>C (p.Glu398Gln)
c.1189G>C (p.Glu397Gln)
c.16G>C (p.Glu6Gln)
c.72+2263G>C (n.72+2263G>C)
c.430G>C
16g.55810640C>TCA395946942CES1c.1195G>A (p.Glu399Lys)
c.1192G>A (p.Glu398Lys)
c.1189G>A (p.Glu397Lys)
c.16G>A (p.Glu6Lys)
c.72+2263G>A (n.72+2263G>A)
c.430G>A
 dbSNP
16g.55810641T>ACA495556647CES1c.1194A>T (p.Pro398=)
c.1191A>T (p.Pro397=)
c.1188A>T (p.Pro396=)
c.15A>T (p.Pro5=)
c.72+2262A>T (n.72+2262A>T)
c.429A>T
16g.55810641T>CCA8062133CES1c.1194A>G (p.Pro398=)
c.1191A>G (p.Pro397=)
c.1188A>G (p.Pro396=)
c.15A>G (p.Pro5=)
c.72+2262A>G (n.72+2262A>G)
c.429A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.55810641T>GCA495556652CES1c.1194A>C (p.Pro398=)
c.1191A>C (p.Pro397=)
c.1188A>C (p.Pro396=)
c.15A>C (p.Pro5=)
c.72+2262A>C (n.72+2262A>C)
c.429A>C
16g.55810641T=CA2223858584CES1c.1194A= (p.Pro398=)
c.1191A= (p.Pro397=)
c.1188A= (p.Pro396=)
c.15A= (p.Pro5=)
c.72+2262A= (n.72+2262A=)
c.429A=
16g.55810642G>ACA395946946CES1c.1193C>T (p.Pro398Leu)
c.1190C>T (p.Pro397Leu)
c.1187C>T (p.Pro396Leu)
c.14C>T (p.Pro5Leu)
c.72+2261C>T (n.72+2261C>T)
c.428C>T
 dbSNP
16g.55810642G>CCA395946947CES1c.1193C>G (p.Pro398Arg)
c.1190C>G (p.Pro397Arg)
c.1187C>G (p.Pro396Arg)
c.14C>G (p.Pro5Arg)
c.72+2261C>G (n.72+2261C>G)
c.428C>G
16g.55810642G=CA2223858585CES1c.1193C= (p.Pro398=)
c.1190C= (p.Pro397=)
c.1187C= (p.Pro396=)
c.14C= (p.Pro5=)
c.72+2261C= (n.72+2261C=)
c.428C=
16g.55810642G>TCA395946949CES1c.1193C>A (p.Pro398Gln)
c.1190C>A (p.Pro397Gln)
c.1187C>A (p.Pro396Gln)
c.14C>A (p.Pro5Gln)
c.72+2261C>A (n.72+2261C>A)
c.428C>A
 dbSNP
16g.55810643G>ACA395946950CES1c.1192C>T (p.Pro398Ser)
c.1189C>T (p.Pro397Ser)
c.1186C>T (p.Pro396Ser)
c.13C>T (p.Pro5Ser)
c.72+2260C>T (n.72+2260C>T)
c.427C>T
 gnomAD v4 COSMIC
16g.55810643G>CCA8062134CES1c.1192C>G (p.Pro398Ala)
c.1189C>G (p.Pro397Ala)
c.1186C>G (p.Pro396Ala)
c.13C>G (p.Pro5Ala)
c.72+2260C>G (n.72+2260C>G)
c.427C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.55810643G=CA2223858586CES1c.1192C= (p.Pro398=)
c.1189C= (p.Pro397=)
c.1186C= (p.Pro396=)
c.13C= (p.Pro5=)
c.72+2260C= (n.72+2260C=)
c.427C=
16g.55810643G>TCA395946952CES1c.1192C>A (p.Pro398Thr)
c.1189C>A (p.Pro397Thr)
c.1186C>A (p.Pro396Thr)
c.13C>A (p.Pro5Thr)
c.72+2260C>A (n.72+2260C>A)
c.427C>A
16g.55810644A=CA2223858587CES1c.1191T= (p.Ile397=)
c.1188T= (p.Ile396=)
c.1185T= (p.Ile395=)
c.12T= (p.Ile4=)
c.72+2259T= (n.72+2259T=)
c.426T=
16g.55810644A>CCA395946953CES1c.1191T>G (p.Ile397Met)
c.1188T>G (p.Ile396Met)
c.1185T>G (p.Ile395Met)
c.12T>G (p.Ile4Met)
c.72+2259T>G (n.72+2259T>G)
c.426T>G
16g.55810644A>GCA495556677CES1c.1191T>C (p.Ile397=)
c.1188T>C (p.Ile396=)
c.1185T>C (p.Ile395=)
c.12T>C (p.Ile4=)
c.72+2259T>C (n.72+2259T>C)
c.426T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.55810644A>TCA495556682CES1c.1191T>A (p.Ile397=)
c.1188T>A (p.Ile396=)
c.1185T>A (p.Ile395=)
c.12T>A (p.Ile4=)
c.72+2259T>A (n.72+2259T>A)
c.426T>A
16g.55810645delCA2633300394CES1c.1191del (p.Pro398GlnfsTer8)
c.1188del (p.Pro397GlnfsTer8)
c.1185del (p.Pro396GlnfsTer8)
c.12del (p.Pro5GlnfsTer8)
c.72+2259del (n.72+2259del)
c.426del
 gnomAD v4
16g.55810645A>CCA395946954CES1c.1190T>G (p.Ile397Ser)
c.1187T>G (p.Ile396Ser)
c.1184T>G (p.Ile395Ser)
c.11T>G (p.Ile4Ser)
c.72+2258T>G (n.72+2258T>G)
c.425T>G
16g.55810645A>GCA395946955CES1c.1190T>C (p.Ile397Thr)
c.1187T>C (p.Ile396Thr)
c.1184T>C (p.Ile395Thr)
c.11T>C (p.Ile4Thr)
c.72+2258T>C (n.72+2258T>C)
c.425T>C
 gnomAD v4
16g.55810645A>TCA395946957CES1c.1190T>A (p.Ile397Asn)
c.1187T>A (p.Ile396Asn)
c.1184T>A (p.Ile395Asn)
c.11T>A (p.Ile4Asn)
c.72+2258T>A (n.72+2258T>A)
c.425T>A
16g.55810646T>ACA395946962CES1c.1189A>T (p.Ile397Phe)
c.1186A>T (p.Ile396Phe)
c.1183A>T (p.Ile395Phe)
c.10A>T (p.Ile4Phe)
c.72+2257A>T (n.72+2257A>T)
c.424A>T
16g.55810646T>CCA395946959CES1c.1189A>G (p.Ile397Val)
c.1186A>G (p.Ile396Val)
c.1183A>G (p.Ile395Val)
c.10A>G (p.Ile4Val)
c.72+2257A>G (n.72+2257A>G)
c.424A>G
 gnomAD v4
16g.55810646T>GCA395946961CES1c.1189A>C (p.Ile397Leu)
c.1186A>C (p.Ile396Leu)
c.1183A>C (p.Ile395Leu)
c.10A>C (p.Ile4Leu)
c.72+2257A>C (n.72+2257A>C)
c.424A>C
16g.55810647C>ACA495556722CES1c.1188G>T (p.Leu396=)
c.1185G>T (p.Leu395=)
c.1182G>T (p.Leu394=)
c.9G>T (p.Leu3=)
c.72+2256G>T (n.72+2256G>T)
c.423G>T
 COSMIC
16g.55810647C>GCA495556709CES1c.1188G>C (p.Leu396=)
c.1185G>C (p.Leu395=)
c.1182G>C (p.Leu394=)
c.9G>C (p.Leu3=)
c.72+2256G>C (n.72+2256G>C)
c.423G>C
16g.55810647C>TCA495556717CES1c.1188G>A (p.Leu396=)
c.1185G>A (p.Leu395=)
c.1182G>A (p.Leu394=)
c.9G>A (p.Leu3=)
c.72+2256G>A (n.72+2256G>A)
c.423G>A
16g.55810648A>CCA395946963CES1c.1187T>G (p.Leu396Arg)
c.1184T>G (p.Leu395Arg)
c.1181T>G (p.Leu394Arg)
c.8T>G (p.Leu3Arg)
c.72+2255T>G (n.72+2255T>G)
c.422T>G
16g.55810648A>GCA395946965CES1c.1187T>C (p.Leu396Pro)
c.1184T>C (p.Leu395Pro)
c.1181T>C (p.Leu394Pro)
c.8T>C (p.Leu3Pro)
c.72+2255T>C (n.72+2255T>C)
c.422T>C
16g.55810648A>TCA395946966CES1c.1187T>A (p.Leu396Gln)
c.1184T>A (p.Leu395Gln)
c.1181T>A (p.Leu394Gln)
c.8T>A (p.Leu3Gln)
c.72+2255T>A (n.72+2255T>A)
c.422T>A
16g.55810649G>ACA495556733CES1c.1186C>T (p.Leu396=)
c.1183C>T (p.Leu395=)
c.1180C>T (p.Leu394=)
c.7C>T (p.Leu3=)
c.72+2254C>T (n.72+2254C>T)
c.421C>T
16g.55810649G>CCA395946967CES1c.1186C>G (p.Leu396Val)
c.1183C>G (p.Leu395Val)
c.1180C>G (p.Leu394Val)
c.7C>G (p.Leu3Val)
c.72+2254C>G (n.72+2254C>G)
c.421C>G
16g.55810649G=CA2223858588CES1c.1186C= (p.Leu396=)
c.1183C= (p.Leu395=)
c.1180C= (p.Leu394=)
c.7C= (p.Leu3=)
c.72+2254C= (n.72+2254C=)
c.421C=
16g.55810649G>TCA395946969CES1c.1186C>A (p.Leu396Met)
c.1183C>A (p.Leu395Met)
c.1180C>A (p.Leu394Met)
c.7C>A (p.Leu3Met)
c.72+2254C>A (n.72+2254C>A)
c.421C>A
 dbSNP gnomAD v2 gnomAD v4
16g.55810650T>ACA395946971CES1c.1185A>T (p.Glu395Asp)
c.1182A>T (p.Glu394Asp)
c.1179A>T (p.Glu393Asp)
c.6A>T (p.Glu2Asp)
c.72+2253A>T (n.72+2253A>T)
c.420A>T
16g.55810650T>CCA495556746CES1c.1185A>G (p.Glu395=)
c.1182A>G (p.Glu394=)
c.1179A>G (p.Glu393=)
c.6A>G (p.Glu2=)
c.72+2253A>G (n.72+2253A>G)
c.420A>G
16g.55810650T>GCA395946973CES1c.1185A>C (p.Glu395Asp)
c.1182A>C (p.Glu394Asp)
c.1179A>C (p.Glu393Asp)
c.6A>C (p.Glu2Asp)
c.72+2253A>C (n.72+2253A>C)
c.420A>C
 dbSNP gnomAD v4
16g.55810650T=CA2223858589CES1c.1185A= (p.Glu395=)
c.1182A= (p.Glu394=)
c.1179A= (p.Glu393=)
c.6A= (p.Glu2=)
c.72+2253A= (n.72+2253A=)
c.420A=
16g.55810651T>ACA395946975CES1c.1184A>T (p.Glu395Val)
c.1181A>T (p.Glu394Val)
c.1178A>T (p.Glu393Val)
c.5A>T (p.Glu2Val)
c.72+2252A>T (n.72+2252A>T)
c.419A>T
16g.55810651T>CCA395946976CES1c.1184A>G (p.Glu395Gly)
c.1181A>G (p.Glu394Gly)
c.1178A>G (p.Glu393Gly)
c.5A>G (p.Glu2Gly)
c.72+2252A>G (n.72+2252A>G)
c.419A>G
16g.55810651T>GCA395946978CES1c.1184A>C (p.Glu395Ala)
c.1181A>C (p.Glu394Ala)
c.1178A>C (p.Glu393Ala)
c.5A>C (p.Glu2Ala)
c.72+2252A>C (n.72+2252A>C)
c.419A>C
16g.55810652C>ACA395946983CES1c.1183G>T (p.Glu395Ter)
c.1180G>T (p.Glu394Ter)
c.1177G>T (p.Glu393Ter)
c.4G>T (p.Glu2Ter)
c.72+2251G>T (n.72+2251G>T)
c.418G>T
 gnomAD v4
16g.55810652C=CA2223858590CES1c.1183G= (p.Glu395=)
c.1180G= (p.Glu394=)
c.1177G= (p.Glu393=)
c.4G= (p.Glu2=)
c.72+2251G= (n.72+2251G=)
c.418G=
16g.55810652C>GCA395946981CES1c.1183G>C (p.Glu395Gln)
c.1180G>C (p.Glu394Gln)
c.1177G>C (p.Glu393Gln)
c.4G>C (p.Glu2Gln)
c.72+2251G>C (n.72+2251G>C)
c.418G>C
16g.55810652C>TCA8062135CES1c.1183G>A (p.Glu395Lys)
c.1180G>A (p.Glu394Lys)
c.1177G>A (p.Glu393Lys)
c.4G>A (p.Glu2Lys)
c.72+2251G>A (n.72+2251G>A)
c.418G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.55810653C>ACA395946984CES1c.1182G>T (p.Lys394Asn)
c.1179G>T (p.Lys393Asn)
c.1176G>T (p.Lys392Asn)
c.3G>T (p.Lys1Asn)
c.72+2250G>T (n.72+2250G>T)
c.417G>T
 COSMIC
16g.55810653C>GCA395946985CES1c.1182G>C (p.Lys394Asn)
c.1179G>C (p.Lys393Asn)
c.1176G>C (p.Lys392Asn)
c.3G>C (p.Lys1Asn)
c.72+2250G>C (n.72+2250G>C)
c.417G>C
16g.55810653C>TCA495556776CES1c.1182G>A (p.Lys394=)
c.1179G>A (p.Lys393=)
c.1176G>A (p.Lys392=)
c.3G>A (p.Lys1=)
c.72+2250G>A (n.72+2250G>A)
c.417G>A
16g.55810653_55810674delCA622299455CES1c.1171-10_1182del
c.1168-10_1179del
c.1165-10_1176del
c.72+2229_72+2250del (n.72+2229_72+2250del)
c.406-10_417del
 gnomAD v2 gnomAD v4
16g.55810654T>ACA395946987CES1c.1181A>T (p.Lys394Met)
c.1178A>T (p.Lys393Met)
c.1175A>T (p.Lys392Met)
c.2A>T (p.Lys1Met)
c.72+2249A>T (n.72+2249A>T)
c.416A>T
16g.55810654T>CCA395946989CES1c.1181A>G (p.Lys394Arg)
c.1178A>G (p.Lys393Arg)
c.1175A>G (p.Lys392Arg)
c.2A>G (p.Lys1Arg)
c.72+2249A>G (n.72+2249A>G)
c.416A>G
16g.55810654T>GCA395946991CES1c.1181A>C (p.Lys394Thr)
c.1178A>C (p.Lys393Thr)
c.1175A>C (p.Lys392Thr)
c.2A>C (p.Lys1Thr)
c.72+2249A>C (n.72+2249A>C)
c.416A>C
16g.55810655T>ACA395946992CES1c.1180A>T (p.Lys394Ter)
c.1177A>T (p.Lys393Ter)
c.1174A>T (p.Lys392Ter)
c.1A>T (p.Lys1Ter)
c.72+2248A>T (n.72+2248A>T)
c.415A>T
 gnomAD v4
16g.55810655T>CCA395946994CES1c.1180A>G (p.Lys394Glu)
c.1177A>G (p.Lys393Glu)
c.1174A>G (p.Lys392Glu)
c.1A>G (p.Lys1Glu)
c.72+2248A>G (n.72+2248A>G)
c.415A>G
 gnomAD v4
16g.55810655T>GCA395946996CES1c.1180A>C (p.Lys394Gln)
c.1177A>C (p.Lys393Gln)
c.1174A>C (p.Lys392Gln)
c.1A>C (p.Lys1Gln)
c.72+2248A>C (n.72+2248A>C)
c.415A>C
16g.55810656A>CCA495556808CES1c.1179T>G (p.Ala393=)
c.1176T>G (p.Ala392=)
c.1173T>G (p.Ala391=)
c.72+2247T>G (n.72+2247T>G)
c.414T>G
16g.55810656A>GCA495556811CES1c.1179T>C (p.Ala393=)
c.1176T>C (p.Ala392=)
c.1173T>C (p.Ala391=)
c.72+2247T>C (n.72+2247T>C)
c.414T>C
16g.55810656A>TCA495556815CES1c.1179T>A (p.Ala393=)
c.1176T>A (p.Ala392=)
c.1173T>A (p.Ala391=)
c.72+2247T>A (n.72+2247T>A)
c.414T>A
16g.55810657G>ACA395946998CES1c.1178C>T (p.Ala393Val)
c.1175C>T (p.Ala392Val)
c.1172C>T (p.Ala391Val)
c.72+2246C>T (n.72+2246C>T)
c.413C>T
 gnomAD v4
16g.55810657G>CCA395946999CES1c.1178C>G (p.Ala393Gly)
c.1175C>G (p.Ala392Gly)
c.1172C>G (p.Ala391Gly)
c.72+2246C>G (n.72+2246C>G)
c.413C>G
16g.55810657G>TCA395947000CES1c.1178C>A (p.Ala393Asp)
c.1175C>A (p.Ala392Asp)
c.1172C>A (p.Ala391Asp)
c.72+2246C>A (n.72+2246C>A)
c.413C>A
16g.55810660_55810664delCA2633300395CES1c.1174_1178del (p.Ile392Ter)
c.1171_1175del (p.Ile391Ter)
c.1168_1172del (p.Ile390Ter)
c.72+2242_72+2246del (n.72+2242_72+2246del)
c.409_413del
 gnomAD v4
16g.55810658C>ACA395947006CES1c.1177G>T (p.Ala393Ser)
c.1174G>T (p.Ala392Ser)
c.1171G>T (p.Ala391Ser)
c.72+2245G>T (n.72+2245G>T)
c.412G>T
 gnomAD v4
16g.55810658C=CA2223858591CES1c.1177G= (p.Ala393=)
c.1174G= (p.Ala392=)
c.1171G= (p.Ala391=)
c.72+2245G= (n.72+2245G=)
c.412G=
16g.55810658C>GCA395947004CES1c.1177G>C (p.Ala393Pro)
c.1174G>C (p.Ala392Pro)
c.1171G>C (p.Ala391Pro)
c.72+2245G>C (n.72+2245G>C)
c.412G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.55810658C>TCA395947003CES1c.1177G>A (p.Ala393Thr)
c.1174G>A (p.Ala392Thr)
c.1171G>A (p.Ala391Thr)
c.72+2245G>A (n.72+2245G>A)
c.412G>A
16g.55810659A>CCA395947008CES1c.1176T>G (p.Ile392Met)
c.1173T>G (p.Ile391Met)
c.1170T>G (p.Ile390Met)
c.72+2244T>G (n.72+2244T>G)
c.411T>G
16g.55810659A>GCA495556838CES1c.1176T>C (p.Ile392=)
c.1173T>C (p.Ile391=)
c.1170T>C (p.Ile390=)
c.72+2244T>C (n.72+2244T>C)
c.411T>C
16g.55810659A>TCA495556841CES1c.1176T>A (p.Ile392=)
c.1173T>A (p.Ile391=)
c.1170T>A (p.Ile390=)
c.72+2244T>A (n.72+2244T>A)
c.411T>A
16g.55810660A>CCA395947009CES1c.1175T>G (p.Ile392Ser)
c.1172T>G (p.Ile391Ser)
c.1169T>G (p.Ile390Ser)
c.72+2243T>G (n.72+2243T>G)
c.410T>G
16g.55810660A>GCA395947011CES1c.1175T>C (p.Ile392Thr)
c.1172T>C (p.Ile391Thr)
c.1169T>C (p.Ile390Thr)
c.72+2243T>C (n.72+2243T>C)
c.410T>C
16g.55810660A>TCA395947014CES1c.1175T>A (p.Ile392Asn)
c.1172T>A (p.Ile391Asn)
c.1169T>A (p.Ile390Asn)
c.72+2243T>A (n.72+2243T>A)
c.410T>A
16g.55810661T>ACA395947016CES1c.1174A>T (p.Ile392Phe)
c.1171A>T (p.Ile391Phe)
c.1168A>T (p.Ile390Phe)
c.72+2242A>T (n.72+2242A>T)
c.409A>T
16g.55810661T>CCA395947017CES1c.1174A>G (p.Ile392Val)
c.1171A>G (p.Ile391Val)
c.1168A>G (p.Ile390Val)
c.72+2242A>G (n.72+2242A>G)
c.409A>G
 dbSNP gnomAD v2 gnomAD v4
16g.55810661T>GCA395947019CES1c.1174A>C (p.Ile392Leu)
c.1171A>C (p.Ile391Leu)
c.1168A>C (p.Ile390Leu)
c.72+2242A>C (n.72+2242A>C)
c.409A>C
16g.55810661T=CA2223858592CES1c.1174A= (p.Ile392=)
c.1171A= (p.Ile391=)
c.1168A= (p.Ile390=)
c.72+2242A= (n.72+2242A=)
c.409A=
16g.55810662G>ACA495556863CES1c.1173C>T (p.Cys391=)
c.1170C>T (p.Cys390=)
c.1167C>T (p.Cys389=)
c.72+2241C>T (n.72+2241C>T)
c.408C>T
 gnomAD v4
16g.55810662G>CCA395947021CES1c.1173C>G (p.Cys391Trp)
c.1170C>G (p.Cys390Trp)
c.1167C>G (p.Cys389Trp)
c.72+2241C>G (n.72+2241C>G)
c.408C>G
16g.55810662G>TCA395947022CES1c.1173C>A (p.Cys391Ter)
c.1170C>A (p.Cys390Ter)
c.1167C>A (p.Cys389Ter)
c.72+2241C>A (n.72+2241C>A)
c.408C>A
16g.55810663C>ACA395947024CES1c.1172G>T (p.Cys391Phe)
c.1169G>T (p.Cys390Phe)
c.1166G>T (p.Cys389Phe)
c.72+2240G>T (n.72+2240G>T)
c.407G>T
 dbSNP gnomAD v4
16g.55810663C=CA2223858593CES1c.1172G= (p.Cys391=)
c.1169G= (p.Cys390=)
c.1166G= (p.Cys389=)
c.72+2240G= (n.72+2240G=)
c.407G=
16g.55810663C>GCA395947025CES1c.1172G>C (p.Cys391Ser)
c.1169G>C (p.Cys390Ser)
c.1166G>C (p.Cys389Ser)
c.72+2240G>C (n.72+2240G>C)
c.407G>C
16g.55810663C>TCA395947027CES1c.1172G>A (p.Cys391Tyr)
c.1169G>A (p.Cys390Tyr)
c.1166G>A (p.Cys389Tyr)
c.72+2240G>A (n.72+2240G>A)
c.407G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.55810664A=CA2223858594CES1c.1171T= (p.Cys391=)
c.1168T= (p.Cys390=)
c.1165T= (p.Cys389=)
c.72+2239T= (n.72+2239T=)
c.406T=
16g.55810664A>CCA395947031CES1c.1171T>G (p.Cys391Gly)
c.1168T>G (p.Cys390Gly)
c.1165T>G (p.Cys389Gly)
c.72+2239T>G (n.72+2239T>G)
c.406T>G
 gnomAD v4
16g.55810664A>GCA395947033CES1c.1171T>C (p.Cys391Arg)
c.1168T>C (p.Cys390Arg)
c.1165T>C (p.Cys389Arg)
c.72+2239T>C (n.72+2239T>C)
c.406T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.55810664A>TCA395947029CES1c.1171T>A (p.Cys391Ser)
c.1168T>A (p.Cys390Ser)
c.1165T>A (p.Cys389Ser)
c.72+2239T>A (n.72+2239T>A)
c.406T>A
16g.55810665C>ACA281410907CES1c.1171-1G>T (n.1171-1G>T)
c.1168-1G>T (n.1168-1G>T)
c.1165-1G>T (n.1165-1G>T)
c.72+2238G>T (n.72+2238G>T)
c.406-1G>T
 dbSNP
16g.55810665C=CA2223858595CES1c.1171-1G= (n.1171-1G=)
c.1168-1G= (n.1168-1G=)
c.1165-1G= (n.1165-1G=)
c.72+2238G= (n.72+2238G=)
c.406-1G=
16g.55810665C>GCA395947035CES1c.1171-1G>C (n.1171-1G>C)
c.1168-1G>C (n.1168-1G>C)
c.1165-1G>C (n.1165-1G>C)
c.72+2238G>C (n.72+2238G>C)
c.406-1G>C
16g.55810665C>TCA8062136CES1c.1171-1G>A (n.1171-1G>A)
c.1168-1G>A (n.1168-1G>A)
c.1165-1G>A (n.1165-1G>A)
c.72+2238G>A (n.72+2238G>A)
c.406-1G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.55810666T>ACA8062137CES1c.1171-2A>T (n.1171-2A>T)
c.1168-2A>T (n.1168-2A>T)
c.1165-2A>T (n.1165-2A>T)
c.72+2237A>T (n.72+2237A>T)
c.406-2A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.55810666T>CCA395947038CES1c.1171-2A>G (n.1171-2A>G)
c.1168-2A>G (n.1168-2A>G)
c.1165-2A>G (n.1165-2A>G)
c.72+2237A>G (n.72+2237A>G)
c.406-2A>G
16g.55810666T>GCA395947040CES1c.1171-2A>C (n.1171-2A>C)
c.1168-2A>C (n.1168-2A>C)
c.1165-2A>C (n.1165-2A>C)
c.72+2237A>C (n.72+2237A>C)
c.406-2A>C
16g.55810666T=CA2223858596CES1c.1171-2A= (n.1171-2A=)
c.1168-2A= (n.1168-2A=)
c.1165-2A= (n.1165-2A=)
c.72+2237A= (n.72+2237A=)
c.406-2A=
16g.55810666_55810667insTTTTCA2633300396CES1c.1171-2_1171-1insAAAA (n.1171-2_1171-1insAAAA)
c.1168-2_1168-1insAAAA (n.1168-2_1168-1insAAAA)
c.1165-2_1165-1insAAAA (n.1165-2_1165-1insAAAA)
c.72+2237_72+2238insAAAA (n.72+2237_72+2238insAAAA)
c.406-2_406-1insAAAA
 gnomAD v4
16g.55810667G>ACA622299463CES1c.1171-3C>T (n.1171-3C>T)
c.1168-3C>T (n.1168-3C>T)
c.1165-3C>T (n.1165-3C>T)
c.72+2236C>T (n.72+2236C>T)
c.406-3C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.55810667G=CA2223858597CES1c.1171-3C= (n.1171-3C=)
c.1168-3C= (n.1168-3C=)
c.1165-3C= (n.1165-3C=)
c.72+2236C= (n.72+2236C=)
c.406-3C=
16g.55810669A=CA2223858598CES1c.1171-5T= (n.1171-5T=)
c.1168-5T= (n.1168-5T=)
c.1165-5T= (n.1165-5T=)
c.72+2234T= (n.72+2234T=)
c.406-5T=
16g.55810669A>CCA2223858599CES1c.1171-5T>G (n.1171-5T>G)
c.1168-5T>G (n.1168-5T>G)
c.1165-5T>G (n.1165-5T>G)
c.72+2234T>G (n.72+2234T>G)
c.406-5T>G
 dbSNP
16g.55810672A=CA2223858600CES1c.1171-8T= (n.1171-8T=)
c.1168-8T= (n.1168-8T=)
c.1165-8T= (n.1165-8T=)
c.72+2231T= (n.72+2231T=)
c.406-8T=
16g.55810672A>GCA8062138CES1c.1171-8T>C (n.1171-8T>C)
c.1168-8T>C (n.1168-8T>C)
c.1165-8T>C (n.1165-8T>C)
c.72+2231T>C (n.72+2231T>C)
c.406-8T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.55810673G>ACA622299466CES1c.1171-9C>T (n.1171-9C>T)
c.1168-9C>T (n.1168-9C>T)
c.1165-9C>T (n.1165-9C>T)
c.72+2230C>T (n.72+2230C>T)
c.406-9C>T
 dbSNP gnomAD v2 gnomAD v4
16g.55810673G=CA2223858601CES1c.1171-9C= (n.1171-9C=)
c.1168-9C= (n.1168-9C=)
c.1165-9C= (n.1165-9C=)
c.72+2230C= (n.72+2230C=)
c.406-9C=
16g.55810674A=CA2223858602CES1c.1171-10T= (n.1171-10T=)
c.1168-10T= (n.1168-10T=)
c.1165-10T= (n.1165-10T=)
c.72+2229T= (n.72+2229T=)
c.406-10T=
16g.55810674A>CCA622299467CES1c.1171-10T>G (n.1171-10T>G)
c.1168-10T>G (n.1168-10T>G)
c.1165-10T>G (n.1165-10T>G)
c.72+2229T>G (n.72+2229T>G)
c.406-10T>G
 dbSNP gnomAD v2 gnomAD v4
16g.55810674A>GCA8062139CES1c.1171-10T>C (n.1171-10T>C)
c.1168-10T>C (n.1168-10T>C)
c.1165-10T>C (n.1165-10T>C)
c.72+2229T>C (n.72+2229T>C)
c.406-10T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.55810674A>TCA8062140CES1c.1171-10T>A (n.1171-10T>A)
c.1168-10T>A (n.1168-10T>A)
c.1165-10T>A (n.1165-10T>A)
c.72+2229T>A (n.72+2229T>A)
c.406-10T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.55810676C>ACA2633300397CES1c.1171-12G>T (n.1171-12G>T)
c.1168-12G>T (n.1168-12G>T)
c.1165-12G>T (n.1165-12G>T)
c.72+2227G>T (n.72+2227G>T)
c.406-12G>T
 gnomAD v4
16g.55810676C>GCA2633300398CES1c.1171-12G>C (n.1171-12G>C)
c.1168-12G>C (n.1168-12G>C)
c.1165-12G>C (n.1165-12G>C)
c.72+2227G>C (n.72+2227G>C)
c.406-12G>C
 gnomAD v4
16g.55810677A>CCA2807130690CES1c.1171-13T>G (n.1171-13T>G)
c.1168-13T>G (n.1168-13T>G)
c.1165-13T>G (n.1165-13T>G)
c.72+2226T>G (n.72+2226T>G)
c.406-13T>G
16g.55810677_55810694delinsAAAAAGTGACCACCAGCCCA2223858603CES1c.1171-30_1171-13delinsGGCTGGTGGTCACTTTTT (n.1171-30_1171-13delinsGGCTGGTGGTCACTTTTT)
c.1168-30_1168-13delinsGGCTGGTGGTCACTTTTT (n.1168-30_1168-13delinsGGCTGGTGGTCACTTTTT)
c.1165-30_1165-13delinsGGCTGGTGGTCACTTTTT (n.1165-30_1165-13delinsGGCTGGTGGTCACTTTTT)
c.72+2209_72+2226delinsGGCTGGTGGTCACTTTTT (n.72+2209_72+2226delinsGGCTGGTGGTCACTTTTT)
c.406-30_406-13delinsGGCTGGTGGTCACTTTTT
16g.55810678A=CA2223858604CES1c.1171-14T= (n.1171-14T=)
c.1168-14T= (n.1168-14T=)
c.1165-14T= (n.1165-14T=)
c.72+2225T= (n.72+2225T=)
c.406-14T=
16g.55810678A>GCA721852240CES1c.1171-14T>C (n.1171-14T>C)
c.1168-14T>C (n.1168-14T>C)
c.1165-14T>C (n.1165-14T>C)
c.72+2225T>C (n.72+2225T>C)
c.406-14T>C
 dbSNP
16g.55810678_55810694delCA721852232CES1c.1171-30_1171-14del (n.1171-30_1171-14del)
c.1168-30_1168-14del (n.1168-30_1168-14del)
c.1165-30_1165-14del (n.1165-30_1165-14del)
c.72+2209_72+2225del (n.72+2209_72+2225del)
c.406-30_406-14del
 dbSNP gnomAD v3 gnomAD v4
16g.55810678_55810679insTCA8062141CES1c.1171-15_1171-14insA (n.1171-15_1171-14insA)
c.1168-15_1168-14insA (n.1168-15_1168-14insA)
c.1165-15_1165-14insA (n.1165-15_1165-14insA)
c.72+2224_72+2225insA (n.72+2224_72+2225insA)
c.406-15_406-14insA
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.55810679A=CA2223858605CES1c.1171-15T= (n.1171-15T=)
c.1168-15T= (n.1168-15T=)
c.1165-15T= (n.1165-15T=)
c.72+2224T= (n.72+2224T=)
c.406-15T=
16g.55810679A>GCA622299470CES1c.1171-15T>C (n.1171-15T>C)
c.1168-15T>C (n.1168-15T>C)
c.1165-15T>C (n.1165-15T>C)
c.72+2224T>C (n.72+2224T>C)
c.406-15T>C
 dbSNP gnomAD v2 gnomAD v4
16g.55810680A>GCA2575997079CES1c.1171-16T>C (n.1171-16T>C)
c.1168-16T>C (n.1168-16T>C)
c.1165-16T>C (n.1165-16T>C)
c.72+2223T>C (n.72+2223T>C)
c.406-16T>C
16g.55810682G>ACA656494132CES1c.1171-18C>T (n.1171-18C>T)
c.1168-18C>T (n.1168-18C>T)
c.1165-18C>T (n.1165-18C>T)
c.72+2221C>T (n.72+2221C>T)
c.406-18C>T
16g.55810683T>ACA8062143CES1c.1171-19A>T (n.1171-19A>T)
c.1168-19A>T (n.1168-19A>T)
c.1165-19A>T (n.1165-19A>T)
c.72+2220A>T (n.72+2220A>T)
c.406-19A>T
 dbSNP ExAC gnomAD v2
16g.55810683T>GCA8062142CES1c.1171-19A>C (n.1171-19A>C)
c.1168-19A>C (n.1168-19A>C)
c.1165-19A>C (n.1165-19A>C)
c.72+2220A>C (n.72+2220A>C)
c.406-19A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.55810683T=CA2223858606CES1c.1171-19A= (n.1171-19A=)
c.1168-19A= (n.1168-19A=)
c.1165-19A= (n.1165-19A=)
c.72+2220A= (n.72+2220A=)
c.406-19A=
16g.55810684G>CCA622299474CES1c.1171-20C>G (n.1171-20C>G)
c.1168-20C>G (n.1168-20C>G)
c.1165-20C>G (n.1165-20C>G)
c.72+2219C>G (n.72+2219C>G)
c.406-20C>G
 dbSNP gnomAD v2 gnomAD v4
16g.55810684G=CA2223858607CES1c.1171-20C= (n.1171-20C=)
c.1168-20C= (n.1168-20C=)
c.1165-20C= (n.1165-20C=)
c.72+2219C= (n.72+2219C=)
c.406-20C=
16g.55810684G>TCA8062144CES1c.1171-20C>A (n.1171-20C>A)
c.1168-20C>A (n.1168-20C>A)
c.1165-20C>A (n.1165-20C>A)
c.72+2219C>A (n.72+2219C>A)
c.406-20C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.55810685A>GCA2633300399CES1c.1171-21T>C (n.1171-21T>C)
c.1168-21T>C (n.1168-21T>C)
c.1165-21T>C (n.1165-21T>C)
c.72+2218T>C (n.72+2218T>C)
c.406-21T>C
 gnomAD v4
16g.55810686C>ACA2633300400CES1c.1171-22G>T (n.1171-22G>T)
c.1168-22G>T (n.1168-22G>T)
c.1165-22G>T (n.1165-22G>T)
c.72+2217G>T (n.72+2217G>T)
c.406-22G>T
 gnomAD v4
16g.55810687C=CA2223858608CES1c.1171-23G= (n.1171-23G=)
c.1168-23G= (n.1168-23G=)
c.1165-23G= (n.1165-23G=)
c.72+2216G= (n.72+2216G=)
c.406-23G=
16g.55810687C>TCA8062145CES1c.1171-23G>A (n.1171-23G>A)
c.1168-23G>A (n.1168-23G>A)
c.1165-23G>A (n.1165-23G>A)
c.72+2216G>A (n.72+2216G>A)
c.406-23G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.55810689C>ACA8062147CES1c.1171-25G>T (n.1171-25G>T)
c.1168-25G>T (n.1168-25G>T)
c.1165-25G>T (n.1165-25G>T)
c.72+2214G>T (n.72+2214G>T)
c.406-25G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.55810689C=CA2223858609CES1c.1171-25G= (n.1171-25G=)
c.1168-25G= (n.1168-25G=)
c.1165-25G= (n.1165-25G=)
c.72+2214G= (n.72+2214G=)
c.406-25G=
16g.55810689C>GCA2633300402CES1c.1171-25G>C (n.1171-25G>C)
c.1168-25G>C (n.1168-25G>C)
c.1165-25G>C (n.1165-25G>C)
c.72+2214G>C (n.72+2214G>C)
c.406-25G>C
 gnomAD v4
16g.55810689C>TCA8062146CES1c.1171-25G>A (n.1171-25G>A)
c.1168-25G>A (n.1168-25G>A)
c.1165-25G>A (n.1165-25G>A)
c.72+2214G>A (n.72+2214G>A)
c.406-25G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.55810690dupCA2633300401CES1c.1171-25dup (n.1171-25dup)
c.1168-25dup (n.1168-25dup)
c.1165-25dup (n.1165-25dup)
c.72+2214dup (n.72+2214dup)
c.406-25dup
 gnomAD v4
16g.55810690C=CA2223858610CES1c.1171-26G= (n.1171-26G=)
c.1168-26G= (n.1168-26G=)
c.1165-26G= (n.1165-26G=)
c.72+2213G= (n.72+2213G=)
c.406-26G=
16g.55810690C>TCA8062148CES1c.1171-26G>A (n.1171-26G>A)
c.1168-26G>A (n.1168-26G>A)
c.1165-26G>A (n.1165-26G>A)
c.72+2213G>A (n.72+2213G>A)
c.406-26G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.55810691A>GCA2633300403CES1c.1171-27T>C (n.1171-27T>C)
c.1168-27T>C (n.1168-27T>C)
c.1165-27T>C (n.1165-27T>C)
c.72+2212T>C (n.72+2212T>C)
c.406-27T>C
 gnomAD v4
16g.55810692G>ACA8062150CES1c.1171-28C>T (n.1171-28C>T)
c.1168-28C>T (n.1168-28C>T)
c.1165-28C>T (n.1165-28C>T)
c.72+2211C>T (n.72+2211C>T)
c.406-28C>T
 dbSNP ExAC gnomAD v4
16g.55810692G>CCA8062149CES1c.1171-28C>G (n.1171-28C>G)
c.1168-28C>G (n.1168-28C>G)
c.1165-28C>G (n.1165-28C>G)
c.72+2211C>G (n.72+2211C>G)
c.406-28C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.55810692G=CA2223858611CES1c.1171-28C= (n.1171-28C=)
c.1168-28C= (n.1168-28C=)
c.1165-28C= (n.1165-28C=)
c.72+2211C= (n.72+2211C=)
c.406-28C=
16g.55810692_55810693insGGGCTGGTGGTCA2633300404CES1c.1171-29_1171-28insACCACCAGCCC (n.1171-29_1171-28insACCACCAGCCC)
c.1168-29_1168-28insACCACCAGCCC (n.1168-29_1168-28insACCACCAGCCC)
c.1165-29_1165-28insACCACCAGCCC (n.1165-29_1165-28insACCACCAGCCC)
c.72+2210_72+2211insACCACCAGCCC (n.72+2210_72+2211insACCACCAGCCC)
c.406-29_406-28insACCACCAGCCC
 gnomAD v4
16g.55810693C=CA2223858612CES1c.1171-29G= (n.1171-29G=)
c.1168-29G= (n.1168-29G=)
c.1165-29G= (n.1165-29G=)
c.72+2210G= (n.72+2210G=)
c.406-29G=
16g.55810693C>GCA8062151CES1c.1171-29G>C (n.1171-29G>C)
c.1168-29G>C (n.1168-29G>C)
c.1165-29G>C (n.1165-29G>C)
c.72+2210G>C (n.72+2210G>C)
c.406-29G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.55810693C>TCA977583390CES1c.1171-29G>A (n.1171-29G>A)
c.1168-29G>A (n.1168-29G>A)
c.1165-29G>A (n.1165-29G>A)
c.72+2210G>A (n.72+2210G>A)
c.406-29G>A
 dbSNP gnomAD v3 gnomAD v4
16g.55810694C>ACA2633300405CES1c.1171-30G>T (n.1171-30G>T)
c.1168-30G>T (n.1168-30G>T)
c.1165-30G>T (n.1165-30G>T)
c.72+2209G>T (n.72+2209G>T)
c.406-30G>T
 gnomAD v4
16g.55810696C=CA2223858613CES1c.1171-32G= (n.1171-32G=)
c.1168-32G= (n.1168-32G=)
c.1165-32G= (n.1165-32G=)
c.72+2207G= (n.72+2207G=)
c.406-32G=
16g.55810696C>GCA622299481CES1c.1171-32G>C (n.1171-32G>C)
c.1168-32G>C (n.1168-32G>C)
c.1165-32G>C (n.1165-32G>C)
c.72+2207G>C (n.72+2207G>C)
c.406-32G>C
 dbSNP gnomAD v2 gnomAD v4
16g.55810696C>TCA8062152CES1c.1171-32G>A (n.1171-32G>A)
c.1168-32G>A (n.1168-32G>A)
c.1165-32G>A (n.1165-32G>A)
c.72+2207G>A (n.72+2207G>A)
c.406-32G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.55810697G>ACA622299483CES1c.1171-33C>T (n.1171-33C>T)
c.1168-33C>T (n.1168-33C>T)
c.1165-33C>T (n.1165-33C>T)
c.72+2206C>T (n.72+2206C>T)
c.406-33C>T
 dbSNP gnomAD v2 gnomAD v4
16g.55810697G>CCA2223858615CES1c.1171-33C>G (n.1171-33C>G)
c.1168-33C>G (n.1168-33C>G)
c.1165-33C>G (n.1165-33C>G)
c.72+2206C>G (n.72+2206C>G)
c.406-33C>G
 dbSNP gnomAD v4
16g.55810697G=CA2223858614CES1c.1171-33C= (n.1171-33C=)
c.1168-33C= (n.1168-33C=)
c.1165-33C= (n.1165-33C=)
c.72+2206C= (n.72+2206C=)
c.406-33C=
16g.55810697G>TCA8062153CES1c.1171-33C>A (n.1171-33C>A)
c.1168-33C>A (n.1168-33C>A)
c.1165-33C>A (n.1165-33C>A)
c.72+2206C>A (n.72+2206C>A)
c.406-33C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched