Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.91278104T>ACA390612431CCDC88Cc.4876A>T (p.Asn1626Tyr)
c.448A>T (p.Asn150Tyr)
n.688A>T
c.1104A>T
c.4768A>T (p.Asn1590Tyr)
n.5151A>T
c.1957A>T (p.Asn653Tyr)
n.5149A>T
14g.91278104T>CCA390612430CCDC88Cc.4876A>G (p.Asn1626Asp)
c.448A>G (p.Asn150Asp)
n.688A>G
c.1104A>G
c.4768A>G (p.Asn1590Asp)
n.5151A>G
c.1957A>G (p.Asn653Asp)
n.5149A>G
14g.91278104T>GCA390612429CCDC88Cc.4876A>C (p.Asn1626His)
c.448A>C (p.Asn150His)
n.688A>C
c.1104A>C
c.4768A>C (p.Asn1590His)
n.5151A>C
c.1957A>C (p.Asn653His)
n.5149A>C
14g.91278105G>ACA487540353CCDC88Cc.4875C>T (p.Arg1625=)
c.447C>T (p.Arg149=)
n.687C>T
c.1103C>T
c.4767C>T (p.Arg1589=)
n.5150C>T
c.1956C>T (p.Arg652=)
n.5148C>T
14g.91278105G>CCA487540350CCDC88Cc.4875C>G (p.Arg1625=)
c.447C>G (p.Arg149=)
n.687C>G
c.1103C>G
c.4767C>G (p.Arg1589=)
n.5150C>G
c.1956C>G (p.Arg652=)
n.5148C>G
14g.91278105G>TCA487540351CCDC88Cc.4875C>A (p.Arg1625=)
c.447C>A (p.Arg149=)
n.687C>A
c.1103C>A
c.4767C>A (p.Arg1589=)
n.5150C>A
c.1956C>A (p.Arg652=)
n.5148C>A
14g.91278106C>ACA390612432CCDC88Cc.4874G>T (p.Arg1625Leu)
c.446G>T (p.Arg149Leu)
n.686G>T
c.1102G>T
c.4766G>T (p.Arg1589Leu)
n.5149G>T
c.1955G>T (p.Arg652Leu)
n.5147G>T
14g.91278106C=CA2154908899CCDC88Cc.4874G= (p.Arg1625=)
c.446G= (p.Arg149=)
n.686G=
c.1102G=
c.4766G= (p.Arg1589=)
n.5149G=
c.1955G= (p.Arg652=)
n.5147G=
14g.91278106C>GCA390612433CCDC88Cc.4874G>C (p.Arg1625Pro)
c.446G>C (p.Arg149Pro)
n.686G>C
c.1102G>C
c.4766G>C (p.Arg1589Pro)
n.5149G>C
c.1955G>C (p.Arg652Pro)
n.5147G>C
14g.91278106C>TCA265524003CCDC88Cc.4874G>A (p.Arg1625His)
c.446G>A (p.Arg149His)
n.686G>A
c.1102G>A
c.4766G>A (p.Arg1589His)
n.5149G>A
c.1955G>A (p.Arg652His)
n.5147G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91278107G>ACA390612434CCDC88Cc.4873C>T (p.Arg1625Cys)
c.445C>T (p.Arg149Cys)
n.685C>T
c.1101C>T
c.4765C>T (p.Arg1589Cys)
n.5148C>T
c.1954C>T (p.Arg652Cys)
n.5146C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91278107G>CCA390612435CCDC88Cc.4873C>G (p.Arg1625Gly)
c.445C>G (p.Arg149Gly)
n.685C>G
c.1101C>G
c.4765C>G (p.Arg1589Gly)
n.5148C>G
c.1954C>G (p.Arg652Gly)
n.5146C>G
 gnomAD v4
14g.91278107G=CA2154908900CCDC88Cc.4873C= (p.Arg1625=)
c.445C= (p.Arg149=)
n.685C=
c.1101C=
c.4765C= (p.Arg1589=)
n.5148C=
c.1954C= (p.Arg652=)
n.5146C=
14g.91278107G>TCA390612436CCDC88Cc.4873C>A (p.Arg1625Ser)
c.445C>A (p.Arg149Ser)
n.685C>A
c.1101C>A
c.4765C>A (p.Arg1589Ser)
n.5148C>A
c.1954C>A (p.Arg652Ser)
n.5146C>A
 gnomAD v4
14g.91278108T>ACA487540354CCDC88Cc.4872A>T (p.Gly1624=)
c.444A>T (p.Gly148=)
n.684A>T
c.1100A>T
c.4764A>T (p.Gly1588=)
n.5147A>T
c.1953A>T (p.Gly651=)
n.5145A>T
14g.91278108T>CCA487540355CCDC88Cc.4872A>G (p.Gly1624=)
c.444A>G (p.Gly148=)
n.684A>G
c.1100A>G
c.4764A>G (p.Gly1588=)
n.5147A>G
c.1953A>G (p.Gly651=)
n.5145A>G
14g.91278108T>GCA487540356CCDC88Cc.4872A>C (p.Gly1624=)
c.444A>C (p.Gly148=)
n.684A>C
c.1100A>C
c.4764A>C (p.Gly1588=)
n.5147A>C
c.1953A>C (p.Gly651=)
n.5145A>C
14g.91278109C>ACA390612437CCDC88Cc.4871G>T (p.Gly1624Val)
c.443G>T (p.Gly148Val)
n.683G>T
c.1099G>T
c.4763G>T (p.Gly1588Val)
n.5146G>T
c.1952G>T (p.Gly651Val)
n.5144G>T
14g.91278109C=CA2154908901CCDC88Cc.4871G= (p.Gly1624=)
c.443G= (p.Gly148=)
n.683G=
c.1099G=
c.4763G= (p.Gly1588=)
n.5146G=
c.1952G= (p.Gly651=)
n.5144G=
14g.91278109C>GCA390612438CCDC88Cc.4871G>C (p.Gly1624Ala)
c.443G>C (p.Gly148Ala)
n.683G>C
c.1099G>C
c.4763G>C (p.Gly1588Ala)
n.5146G>C
c.1952G>C (p.Gly651Ala)
n.5144G>C
 dbSNP
14g.91278109C>TCA390612439CCDC88Cc.4871G>A (p.Gly1624Glu)
c.443G>A (p.Gly148Glu)
n.683G>A
c.1099G>A
c.4763G>A (p.Gly1588Glu)
n.5146G>A
c.1952G>A (p.Gly651Glu)
n.5144G>A
 dbSNP gnomAD v4
14g.91278110C>ACA390612440CCDC88Cc.4870G>T (p.Gly1624Ter)
c.442G>T (p.Gly148Ter)
n.682G>T
c.1098G>T
c.4762G>T (p.Gly1588Ter)
n.5145G>T
c.1951G>T (p.Gly651Ter)
n.5143G>T
14g.91278110C=CA2154908902CCDC88Cc.4870G= (p.Gly1624=)
c.442G= (p.Gly148=)
n.682G=
c.1098G=
c.4762G= (p.Gly1588=)
n.5145G=
c.1951G= (p.Gly651=)
n.5143G=
14g.91278110C>GCA390612441CCDC88Cc.4870G>C (p.Gly1624Arg)
c.442G>C (p.Gly148Arg)
n.682G>C
c.1098G>C
c.4762G>C (p.Gly1588Arg)
n.5145G>C
c.1951G>C (p.Gly651Arg)
n.5143G>C
14g.91278110C>TCA390612442CCDC88Cc.4870G>A (p.Gly1624Arg)
c.442G>A (p.Gly148Arg)
n.682G>A
c.1098G>A
c.4762G>A (p.Gly1588Arg)
n.5145G>A
c.1951G>A (p.Gly651Arg)
n.5143G>A
 dbSNP gnomAD v4
14g.91278111C>ACA487540359CCDC88Cc.4869G>T (p.Pro1623=)
c.441G>T (p.Pro147=)
n.681G>T
c.1097G>T
c.4761G>T (p.Pro1587=)
n.5144G>T
c.1950G>T (p.Pro650=)
n.5142G>T
14g.91278111C=CA2154908903CCDC88Cc.4869G= (p.Pro1623=)
c.441G= (p.Pro147=)
n.681G=
c.1097G=
c.4761G= (p.Pro1587=)
n.5144G=
c.1950G= (p.Pro650=)
n.5142G=
14g.91278111C>GCA487540360CCDC88Cc.4869G>C (p.Pro1623=)
c.441G>C (p.Pro147=)
n.681G>C
c.1097G>C
c.4761G>C (p.Pro1587=)
n.5144G>C
c.1950G>C (p.Pro650=)
n.5142G>C
14g.91278111C>TCA7308807CCDC88Cc.4869G>A (p.Pro1623=)
c.441G>A (p.Pro147=)
n.681G>A
c.1097G>A
c.4761G>A (p.Pro1587=)
n.5144G>A
c.1950G>A (p.Pro650=)
n.5142G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.91278112G>ACA7308808CCDC88Cc.4868C>T (p.Pro1623Leu)
c.440C>T (p.Pro147Leu)
n.680C>T
c.1096C>T
c.4760C>T (p.Pro1587Leu)
n.5143C>T
c.1949C>T (p.Pro650Leu)
n.5141C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91278112G>CCA390612444CCDC88Cc.4868C>G (p.Pro1623Arg)
c.440C>G (p.Pro147Arg)
n.680C>G
c.1096C>G
c.4760C>G (p.Pro1587Arg)
n.5143C>G
c.1949C>G (p.Pro650Arg)
n.5141C>G
14g.91278112G=CA2154908904CCDC88Cc.4868C= (p.Pro1623=)
c.440C= (p.Pro147=)
n.680C=
c.1096C=
c.4760C= (p.Pro1587=)
n.5143C=
c.1949C= (p.Pro650=)
n.5141C=
14g.91278112G>TCA390612443CCDC88Cc.4868C>A (p.Pro1623Gln)
c.440C>A (p.Pro147Gln)
n.680C>A
c.1096C>A
c.4760C>A (p.Pro1587Gln)
n.5143C>A
c.1949C>A (p.Pro650Gln)
n.5141C>A
14g.91278113G>ACA7308810CCDC88Cc.4867C>T (p.Pro1623Ser)
c.439C>T (p.Pro147Ser)
n.679C>T
c.1095C>T
c.4759C>T (p.Pro1587Ser)
n.5142C>T
c.1948C>T (p.Pro650Ser)
n.5140C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91278113G>CCA7308809CCDC88Cc.4867C>G (p.Pro1623Ala)
c.439C>G (p.Pro147Ala)
n.679C>G
c.1095C>G
c.4759C>G (p.Pro1587Ala)
n.5142C>G
c.1948C>G (p.Pro650Ala)
n.5140C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91278113G=CA2154908905CCDC88Cc.4867C= (p.Pro1623=)
c.439C= (p.Pro147=)
n.679C=
c.1095C=
c.4759C= (p.Pro1587=)
n.5142C=
c.1948C= (p.Pro650=)
n.5140C=
14g.91278113G>TCA390612445CCDC88Cc.4867C>A (p.Pro1623Thr)
c.439C>A (p.Pro147Thr)
n.679C>A
c.1095C>A
c.4759C>A (p.Pro1587Thr)
n.5142C>A
c.1948C>A (p.Pro650Thr)
n.5140C>A
14g.91278114T>ACA487540363CCDC88Cc.4866A>T (p.Thr1622=)
c.438A>T (p.Thr146=)
n.678A>T
c.1094A>T
c.4758A>T (p.Thr1586=)
n.5141A>T
c.1947A>T (p.Thr649=)
n.5139A>T
 ClinVar
14g.91278114T>CCA7308811CCDC88Cc.4866A>G (p.Thr1622=)
c.438A>G (p.Thr146=)
n.678A>G
c.1094A>G
c.4758A>G (p.Thr1586=)
n.5141A>G
c.1947A>G (p.Thr649=)
n.5139A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.91278114T>GCA487540364CCDC88Cc.4866A>C (p.Thr1622=)
c.438A>C (p.Thr146=)
n.678A>C
c.1094A>C
c.4758A>C (p.Thr1586=)
n.5141A>C
c.1947A>C (p.Thr649=)
n.5139A>C
 dbSNP
14g.91278114T=CA2154908906CCDC88Cc.4866A= (p.Thr1622=)
c.438A= (p.Thr146=)
n.678A=
c.1094A=
c.4758A= (p.Thr1586=)
n.5141A=
c.1947A= (p.Thr649=)
n.5139A=
14g.91278115G>ACA390612446CCDC88Cc.4865C>T (p.Thr1622Ile)
c.437C>T (p.Thr146Ile)
n.677C>T
c.1093C>T
c.4757C>T (p.Thr1586Ile)
n.5140C>T
c.1946C>T (p.Thr649Ile)
n.5138C>T
14g.91278115G>CCA390612447CCDC88Cc.4865C>G (p.Thr1622Arg)
c.437C>G (p.Thr146Arg)
n.677C>G
c.1093C>G
c.4757C>G (p.Thr1586Arg)
n.5140C>G
c.1946C>G (p.Thr649Arg)
n.5138C>G
14g.91278115G>TCA390612448CCDC88Cc.4865C>A (p.Thr1622Lys)
c.437C>A (p.Thr146Lys)
n.677C>A
c.1093C>A
c.4757C>A (p.Thr1586Lys)
n.5140C>A
c.1946C>A (p.Thr649Lys)
n.5138C>A
14g.91278116T>ACA390612450CCDC88Cc.4864A>T (p.Thr1622Ser)
c.436A>T (p.Thr146Ser)
n.676A>T
c.1092A>T
c.4756A>T (p.Thr1586Ser)
n.5139A>T
c.1945A>T (p.Thr649Ser)
n.5137A>T
14g.91278116T>CCA265524048CCDC88Cc.4864A>G (p.Thr1622Ala)
c.436A>G (p.Thr146Ala)
n.676A>G
c.1092A>G
c.4756A>G (p.Thr1586Ala)
n.5139A>G
c.1945A>G (p.Thr649Ala)
n.5137A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91278116T>GCA390612449CCDC88Cc.4864A>C (p.Thr1622Pro)
c.436A>C (p.Thr146Pro)
n.676A>C
c.1092A>C
c.4756A>C (p.Thr1586Pro)
n.5139A>C
c.1945A>C (p.Thr649Pro)
n.5137A>C
14g.91278116T=CA2154908907CCDC88Cc.4864A= (p.Thr1622=)
c.436A= (p.Thr146=)
n.676A=
c.1092A=
c.4756A= (p.Thr1586=)
n.5139A=
c.1945A= (p.Thr649=)
n.5137A=
14g.91278117G>ACA487540365CCDC88Cc.4863C>T (p.Ser1621=)
c.435C>T (p.Ser145=)
n.675C>T
c.1091C>T
c.4755C>T (p.Ser1585=)
n.5138C>T
c.1944C>T (p.Ser648=)
n.5136C>T
14g.91278117G>CCA390612451CCDC88Cc.4863C>G (p.Ser1621Arg)
c.435C>G (p.Ser145Arg)
n.675C>G
c.1091C>G
c.4755C>G (p.Ser1585Arg)
n.5138C>G
c.1944C>G (p.Ser648Arg)
n.5136C>G
14g.91278117G>TCA390612452CCDC88Cc.4863C>A (p.Ser1621Arg)
c.435C>A (p.Ser145Arg)
n.675C>A
c.1091C>A
c.4755C>A (p.Ser1585Arg)
n.5138C>A
c.1944C>A (p.Ser648Arg)
n.5136C>A
14g.91278118C>ACA390612453CCDC88Cc.4862G>T (p.Ser1621Ile)
c.434G>T (p.Ser145Ile)
n.674G>T
c.1090G>T
c.4754G>T (p.Ser1585Ile)
n.5137G>T
c.1943G>T (p.Ser648Ile)
n.5135G>T
14g.91278118C>GCA390612454CCDC88Cc.4862G>C (p.Ser1621Thr)
c.434G>C (p.Ser145Thr)
n.674G>C
c.1090G>C
c.4754G>C (p.Ser1585Thr)
n.5137G>C
c.1943G>C (p.Ser648Thr)
n.5135G>C
14g.91278118C>TCA390612455CCDC88Cc.4862G>A (p.Ser1621Asn)
c.434G>A (p.Ser145Asn)
n.674G>A
c.1090G>A
c.4754G>A (p.Ser1585Asn)
n.5137G>A
c.1943G>A (p.Ser648Asn)
n.5135G>A
14g.91278119T>ACA390612456CCDC88Cc.4861A>T (p.Ser1621Cys)
c.433A>T (p.Ser145Cys)
n.673A>T
c.1089A>T
c.4753A>T (p.Ser1585Cys)
n.5136A>T
c.1942A>T (p.Ser648Cys)
n.5134A>T
14g.91278119T>CCA7308812CCDC88Cc.4861A>G (p.Ser1621Gly)
c.433A>G (p.Ser145Gly)
n.673A>G
c.1089A>G
c.4753A>G (p.Ser1585Gly)
n.5136A>G
c.1942A>G (p.Ser648Gly)
n.5134A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91278119T>GCA390612457CCDC88Cc.4861A>C (p.Ser1621Arg)
c.433A>C (p.Ser145Arg)
n.673A>C
c.1089A>C
c.4753A>C (p.Ser1585Arg)
n.5136A>C
c.1942A>C (p.Ser648Arg)
n.5134A>C
14g.91278119T=CA2154908908CCDC88Cc.4861A= (p.Ser1621=)
c.433A= (p.Ser145=)
n.673A=
c.1089A=
c.4753A= (p.Ser1585=)
n.5136A=
c.1942A= (p.Ser648=)
n.5134A=
14g.91278120G>ACA487540371CCDC88Cc.4860C>T (p.Ala1620=)
c.432C>T (p.Ala144=)
n.672C>T
c.1088C>T
c.4752C>T (p.Ala1584=)
n.5135C>T
c.1941C>T (p.Ala647=)
n.5133C>T
14g.91278120G>CCA487540370CCDC88Cc.4860C>G (p.Ala1620=)
c.432C>G (p.Ala144=)
n.672C>G
c.1088C>G
c.4752C>G (p.Ala1584=)
n.5135C>G
c.1941C>G (p.Ala647=)
n.5133C>G
14g.91278120G>TCA487540369CCDC88Cc.4860C>A (p.Ala1620=)
c.432C>A (p.Ala144=)
n.672C>A
c.1088C>A
c.4752C>A (p.Ala1584=)
n.5135C>A
c.1941C>A (p.Ala647=)
n.5133C>A
14g.91278121G>ACA390612458CCDC88Cc.4859C>T (p.Ala1620Val)
c.431C>T (p.Ala144Val)
n.671C>T
c.1087C>T
c.4751C>T (p.Ala1584Val)
n.5134C>T
c.1940C>T (p.Ala647Val)
n.5132C>T
14g.91278121G>CCA390612459CCDC88Cc.4859C>G (p.Ala1620Gly)
c.431C>G (p.Ala144Gly)
n.671C>G
c.1087C>G
c.4751C>G (p.Ala1584Gly)
n.5134C>G
c.1940C>G (p.Ala647Gly)
n.5132C>G
14g.91278121G>TCA390612460CCDC88Cc.4859C>A (p.Ala1620Asp)
c.431C>A (p.Ala144Asp)
n.671C>A
c.1087C>A
c.4751C>A (p.Ala1584Asp)
n.5134C>A
c.1940C>A (p.Ala647Asp)
n.5132C>A
 gnomAD v4
14g.91278122C>ACA390612461CCDC88Cc.4858G>T (p.Ala1620Ser)
c.430G>T (p.Ala144Ser)
n.670G>T
c.1086G>T
c.4750G>T (p.Ala1584Ser)
n.5133G>T
c.1939G>T (p.Ala647Ser)
n.5131G>T
14g.91278122C=CA2154908909CCDC88Cc.4858G= (p.Ala1620=)
c.430G= (p.Ala144=)
n.670G=
c.1086G=
c.4750G= (p.Ala1584=)
n.5133G=
c.1939G= (p.Ala647=)
n.5131G=
14g.91278122C>GCA390612462CCDC88Cc.4858G>C (p.Ala1620Pro)
c.430G>C (p.Ala144Pro)
n.670G>C
c.1086G>C
c.4750G>C (p.Ala1584Pro)
n.5133G>C
c.1939G>C (p.Ala647Pro)
n.5131G>C
14g.91278122C>TCA390612463CCDC88Cc.4858G>A (p.Ala1620Thr)
c.430G>A (p.Ala144Thr)
n.670G>A
c.1086G>A
c.4750G>A (p.Ala1584Thr)
n.5133G>A
c.1939G>A (p.Ala647Thr)
n.5131G>A
 dbSNP COSMIC COSMIC COSMIC
14g.91278123T>ACA390612464CCDC88Cc.4857A>T (p.Glu1619Asp)
c.429A>T (p.Glu143Asp)
n.669A>T
c.1085A>T
c.4749A>T (p.Glu1583Asp)
n.5132A>T
c.1938A>T (p.Glu646Asp)
n.5130A>T
14g.91278123T>CCA487540374CCDC88Cc.4857A>G (p.Glu1619=)
c.429A>G (p.Glu143=)
n.669A>G
c.1085A>G
c.4749A>G (p.Glu1583=)
n.5132A>G
c.1938A>G (p.Glu646=)
n.5130A>G
14g.91278123T>GCA390612465CCDC88Cc.4857A>C (p.Glu1619Asp)
c.429A>C (p.Glu143Asp)
n.669A>C
c.1085A>C
c.4749A>C (p.Glu1583Asp)
n.5132A>C
c.1938A>C (p.Glu646Asp)
n.5130A>C
14g.91278124T>ACA390612466CCDC88Cc.4856A>T (p.Glu1619Val)
c.428A>T (p.Glu143Val)
n.668A>T
c.1084A>T
c.4748A>T (p.Glu1583Val)
n.5131A>T
c.1937A>T (p.Glu646Val)
n.5129A>T
14g.91278124T>CCA390612467CCDC88Cc.4856A>G (p.Glu1619Gly)
c.428A>G (p.Glu143Gly)
n.668A>G
c.1084A>G
c.4748A>G (p.Glu1583Gly)
n.5131A>G
c.1937A>G (p.Glu646Gly)
n.5129A>G
14g.91278124T>GCA390612468CCDC88Cc.4856A>C (p.Glu1619Ala)
c.428A>C (p.Glu143Ala)
n.668A>C
c.1084A>C
c.4748A>C (p.Glu1583Ala)
n.5131A>C
c.1937A>C (p.Glu646Ala)
n.5129A>C
14g.91278124T=CA2154908910CCDC88Cc.4856A= (p.Glu1619=)
c.428A= (p.Glu143=)
n.668A=
c.1084A=
c.4748A= (p.Glu1583=)
n.5131A=
c.1937A= (p.Glu646=)
n.5129A=
14g.91278125C>ACA390612470CCDC88Cc.4855G>T (p.Glu1619Ter)
c.427G>T (p.Glu143Ter)
n.667G>T
c.1083G>T
c.4747G>T (p.Glu1583Ter)
n.5130G>T
c.1936G>T (p.Glu646Ter)
n.5128G>T
14g.91278125C=CA2154908911CCDC88Cc.4855G= (p.Glu1619=)
c.427G= (p.Glu143=)
n.667G=
c.1083G=
c.4747G= (p.Glu1583=)
n.5130G=
c.1936G= (p.Glu646=)
n.5128G=
14g.91278125C>GCA390612471CCDC88Cc.4855G>C (p.Glu1619Gln)
c.427G>C (p.Glu143Gln)
n.667G>C
c.1083G>C
c.4747G>C (p.Glu1583Gln)
n.5130G>C
c.1936G>C (p.Glu646Gln)
n.5128G>C
14g.91278125C>TCA390612469CCDC88Cc.4855G>A (p.Glu1619Lys)
c.427G>A (p.Glu143Lys)
n.667G>A
c.1083G>A
c.4747G>A (p.Glu1583Lys)
n.5130G>A
c.1936G>A (p.Glu646Lys)
n.5128G>A
 dbSNP
14g.91278127dupCA265524064CCDC88Cc.4855dup (p.Glu1619GlyfsTer?)
c.427dup (p.Glu143GlyfsTer?)
n.667dup
c.1083dup
c.4747dup (p.Glu1583GlyfsTer?)
n.5130dup
c.1936dup (p.Glu646GlyfsTer?)
n.5128dup
 dbSNP
14g.91278126C>ACA487540375CCDC88Cc.4854G>T (p.Arg1618=)
c.426G>T (p.Arg142=)
n.666G>T
c.1082G>T
c.4746G>T (p.Arg1582=)
n.5129G>T
c.1935G>T (p.Arg645=)
n.5127G>T
14g.91278126C>GCA487540377CCDC88Cc.4854G>C (p.Arg1618=)
c.426G>C (p.Arg142=)
n.666G>C
c.1082G>C
c.4746G>C (p.Arg1582=)
n.5129G>C
c.1935G>C (p.Arg645=)
n.5127G>C
14g.91278126C>TCA487540378CCDC88Cc.4854G>A (p.Arg1618=)
c.426G>A (p.Arg142=)
n.666G>A
c.1082G>A
c.4746G>A (p.Arg1582=)
n.5129G>A
c.1935G>A (p.Arg645=)
n.5127G>A
 COSMIC COSMIC COSMIC
14g.91278127C>ACA7308813CCDC88Cc.4853G>T (p.Arg1618Leu)
c.425G>T (p.Arg142Leu)
n.665G>T
c.1081G>T
c.4745G>T (p.Arg1582Leu)
n.5128G>T
c.1934G>T (p.Arg645Leu)
n.5126G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91278127C=CA2154908912CCDC88Cc.4853G= (p.Arg1618=)
c.425G= (p.Arg142=)
n.665G=
c.1081G=
c.4745G= (p.Arg1582=)
n.5128G=
c.1934G= (p.Arg645=)
n.5126G=
14g.91278127C>GCA390612472CCDC88Cc.4853G>C (p.Arg1618Pro)
c.425G>C (p.Arg142Pro)
n.665G>C
c.1081G>C
c.4745G>C (p.Arg1582Pro)
n.5128G>C
c.1934G>C (p.Arg645Pro)
n.5126G>C
 gnomAD v4
14g.91278127C>TCA390612473CCDC88Cc.4853G>A (p.Arg1618Gln)
c.425G>A (p.Arg142Gln)
n.665G>A
c.1081G>A
c.4745G>A (p.Arg1582Gln)
n.5128G>A
c.1934G>A (p.Arg645Gln)
n.5126G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
14g.91278128G>ACA7308814CCDC88Cc.4852C>T (p.Arg1618Trp)
c.424C>T (p.Arg142Trp)
n.664C>T
c.1080C>T
c.4744C>T (p.Arg1582Trp)
n.5127C>T
c.1933C>T (p.Arg645Trp)
n.5125C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
14g.91278128G>CCA390612474CCDC88Cc.4852C>G (p.Arg1618Gly)
c.424C>G (p.Arg142Gly)
n.664C>G
c.1080C>G
c.4744C>G (p.Arg1582Gly)
n.5127C>G
c.1933C>G (p.Arg645Gly)
n.5125C>G
14g.91278128G=CA2154908913CCDC88Cc.4852C= (p.Arg1618=)
c.424C= (p.Arg142=)
n.664C=
c.1080C=
c.4744C= (p.Arg1582=)
n.5127C=
c.1933C= (p.Arg645=)
n.5125C=
14g.91278128G>TCA487540379CCDC88Cc.4852C>A (p.Arg1618=)
c.424C>A (p.Arg142=)
n.664C>A
c.1080C>A
c.4744C>A (p.Arg1582=)
n.5127C>A
c.1933C>A (p.Arg645=)
n.5125C>A
14g.91278129G>ACA7308815CCDC88Cc.4851C>T (p.Pro1617=)
c.423C>T (p.Pro141=)
n.663C>T
c.1079C>T
c.4743C>T (p.Pro1581=)
n.5126C>T
c.1932C>T (p.Pro644=)
n.5124C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91278129G>CCA487540380CCDC88Cc.4851C>G (p.Pro1617=)
c.423C>G (p.Pro141=)
n.663C>G
c.1079C>G
c.4743C>G (p.Pro1581=)
n.5126C>G
c.1932C>G (p.Pro644=)
n.5124C>G
14g.91278129G=CA2154908914CCDC88Cc.4851C= (p.Pro1617=)
c.423C= (p.Pro141=)
n.663C=
c.1079C=
c.4743C= (p.Pro1581=)
n.5126C=
c.1932C= (p.Pro644=)
n.5124C=
14g.91278129G>TCA487540381CCDC88Cc.4851C>A (p.Pro1617=)
c.423C>A (p.Pro141=)
n.663C>A
c.1079C>A
c.4743C>A (p.Pro1581=)
n.5126C>A
c.1932C>A (p.Pro644=)
n.5124C>A
14g.91278130G>ACA265524100CCDC88Cc.4850C>T (p.Pro1617Leu)
c.422C>T (p.Pro141Leu)
n.662C>T
c.1078C>T
c.4742C>T (p.Pro1581Leu)
n.5125C>T
c.1931C>T (p.Pro644Leu)
n.5123C>T
 dbSNP gnomAD v4
14g.91278130G>CCA390612475CCDC88Cc.4850C>G (p.Pro1617Arg)
c.422C>G (p.Pro141Arg)
n.662C>G
c.1078C>G
c.4742C>G (p.Pro1581Arg)
n.5125C>G
c.1931C>G (p.Pro644Arg)
n.5123C>G
14g.91278130G=CA2154908915CCDC88Cc.4850C= (p.Pro1617=)
c.422C= (p.Pro141=)
n.662C=
c.1078C=
c.4742C= (p.Pro1581=)
n.5125C=
c.1931C= (p.Pro644=)
n.5123C=
14g.91278130G>TCA390612476CCDC88Cc.4850C>A (p.Pro1617His)
c.422C>A (p.Pro141His)
n.662C>A
c.1078C>A
c.4742C>A (p.Pro1581His)
n.5125C>A
c.1931C>A (p.Pro644His)
n.5123C>A
14g.91278131G>ACA390612477CCDC88Cc.4849C>T (p.Pro1617Ser)
c.421C>T (p.Pro141Ser)
n.661C>T
c.1077C>T
c.4741C>T (p.Pro1581Ser)
n.5124C>T
c.1930C>T (p.Pro644Ser)
n.5122C>T
 gnomAD v4
14g.91278131G>CCA390612479CCDC88Cc.4849C>G (p.Pro1617Ala)
c.421C>G (p.Pro141Ala)
n.661C>G
c.1077C>G
c.4741C>G (p.Pro1581Ala)
n.5124C>G
c.1930C>G (p.Pro644Ala)
n.5122C>G
14g.91278131G=CA2154908916CCDC88Cc.4849C= (p.Pro1617=)
c.421C= (p.Pro141=)
n.661C=
c.1077C=
c.4741C= (p.Pro1581=)
n.5124C=
c.1930C= (p.Pro644=)
n.5122C=
14g.91278131G>TCA7308816CCDC88Cc.4849C>A (p.Pro1617Thr)
c.421C>A (p.Pro141Thr)
n.661C>A
c.1077C>A
c.4741C>A (p.Pro1581Thr)
n.5124C>A
c.1930C>A (p.Pro644Thr)
n.5122C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.91278132C>ACA390612482CCDC88Cc.4848G>T (p.Leu1616Phe)
c.420G>T (p.Leu140Phe)
n.660G>T
c.1076G>T
c.4740G>T (p.Leu1580Phe)
n.5123G>T
c.1929G>T (p.Leu643Phe)
n.5121G>T
14g.91278132C=CA2154908917CCDC88Cc.4848G= (p.Leu1616=)
c.420G= (p.Leu140=)
n.660G=
c.1076G=
c.4740G= (p.Leu1580=)
n.5123G=
c.1929G= (p.Leu643=)
n.5121G=
14g.91278132C>GCA390612484CCDC88Cc.4848G>C (p.Leu1616Phe)
c.420G>C (p.Leu140Phe)
n.660G>C
c.1076G>C
c.4740G>C (p.Leu1580Phe)
n.5123G>C
c.1929G>C (p.Leu643Phe)
n.5121G>C
14g.91278132C>TCA487540382CCDC88Cc.4848G>A (p.Leu1616=)
c.420G>A (p.Leu140=)
n.660G>A
c.1076G>A
c.4740G>A (p.Leu1580=)
n.5123G>A
c.1929G>A (p.Leu643=)
n.5121G>A
 dbSNP
14g.91278133A>CCA390612486CCDC88Cc.4847T>G (p.Leu1616Trp)
c.419T>G (p.Leu140Trp)
n.659T>G
c.1075T>G
c.4739T>G (p.Leu1580Trp)
n.5122T>G
c.1928T>G (p.Leu643Trp)
n.5120T>G
14g.91278133A>GCA390612489CCDC88Cc.4847T>C (p.Leu1616Ser)
c.419T>C (p.Leu140Ser)
n.659T>C
c.1075T>C
c.4739T>C (p.Leu1580Ser)
n.5122T>C
c.1928T>C (p.Leu643Ser)
n.5120T>C
14g.91278133A>TCA390612488CCDC88Cc.4847T>A (p.Leu1616Ter)
c.419T>A (p.Leu140Ter)
n.659T>A
c.1075T>A
c.4739T>A (p.Leu1580Ter)
n.5122T>A
c.1928T>A (p.Leu643Ter)
n.5120T>A
14g.91278134A=CA2154908918CCDC88Cc.4846T= (p.Leu1616=)
c.418T= (p.Leu140=)
n.658T=
c.1074T=
c.4738T= (p.Leu1580=)
n.5121T=
c.1927T= (p.Leu643=)
n.5119T=
14g.91278134A>CCA390612492CCDC88Cc.4846T>G (p.Leu1616Val)
c.418T>G (p.Leu140Val)
n.658T>G
c.1074T>G
c.4738T>G (p.Leu1580Val)
n.5121T>G
c.1927T>G (p.Leu643Val)
n.5119T>G
14g.91278134A>GCA487540383CCDC88Cc.4846T>C (p.Leu1616=)
c.418T>C (p.Leu140=)
n.658T>C
c.1074T>C
c.4738T>C (p.Leu1580=)
n.5121T>C
c.1927T>C (p.Leu643=)
n.5119T>C
14g.91278134A>TCA390612494CCDC88Cc.4846T>A (p.Leu1616Met)
c.418T>A (p.Leu140Met)
n.658T>A
c.1074T>A
c.4738T>A (p.Leu1580Met)
n.5121T>A
c.1927T>A (p.Leu643Met)
n.5119T>A
14g.91278134_91278135insGGGCA7308817CCDC88Cc.4845_4846insCCC (p.Thr1615_Leu1616insPro)
c.417_418insCCC (p.Thr139_Leu140insPro)
n.657_658insCCC
c.1073_1074insCCC
c.4737_4738insCCC (p.Thr1579_Leu1580insPro)
n.5120_5121insCCC
c.1926_1927insCCC (p.Thr642_Leu643insPro)
n.5118_5119insCCC
 dbSNP ExAC
14g.91278134_91278135insGGGAGGCCGAGCCA7308818CCDC88Cc.4845_4846insGCTCGGCCTCCC (p.Thr1615_Leu1616insAlaArgProPro)
c.417_418insGCTCGGCCTCCC (p.Thr139_Leu140insAlaArgProPro)
n.657_658insGCTCGGCCTCCC
c.1073_1074insGCTCGGCCTCCC
c.4737_4738insGCTCGGCCTCCC (p.Thr1579_Leu1580insAlaArgProPro)
n.5120_5121insGCTCGGCCTCCC
c.1926_1927insGCTCGGCCTCCC (p.Thr642_Leu643insAlaArgProPro)
n.5118_5119insGCTCGGCCTCCC
 dbSNP ExAC
14g.91278135A=CA2154908920CCDC88Cc.4845T= (p.Thr1615=)
c.417T= (p.Thr139=)
n.657T=
c.1073T=
c.4737T= (p.Thr1579=)
n.5120T=
c.1926T= (p.Thr642=)
n.5118T=
14g.91278135A>CCA487540389CCDC88Cc.4845T>G (p.Thr1615=)
c.417T>G (p.Thr139=)
n.657T>G
c.1073T>G
c.4737T>G (p.Thr1579=)
n.5120T>G
c.1926T>G (p.Thr642=)
n.5118T>G
14g.91278135A>GCA487540388CCDC88Cc.4845T>C (p.Thr1615=)
c.417T>C (p.Thr139=)
n.657T>C
c.1073T>C
c.4737T>C (p.Thr1579=)
n.5120T>C
c.1926T>C (p.Thr642=)
n.5118T>C
 dbSNP gnomAD v2 gnomAD v4
14g.91278135A>TCA487540387CCDC88Cc.4845T>A (p.Thr1615=)
c.417T>A (p.Thr139=)
n.657T>A
c.1073T>A
c.4737T>A (p.Thr1579=)
n.5120T>A
c.1926T>A (p.Thr642=)
n.5118T>A
14g.91278135_91278137delinsAGTCA2154908919CCDC88Cc.4843_4845delinsACT (p.Thr1615=)
c.415_417delinsACT (p.Thr139=)
n.655_657delinsACT
c.1071_1073delinsACT
c.4735_4737delinsACT (p.Thr1579=)
n.5118_5120delinsACT
c.1924_1926delinsACT (p.Thr642=)
n.5116_5118delinsACT
14g.91278136G>ACA390612497CCDC88Cc.4844C>T (p.Thr1615Ile)
c.416C>T (p.Thr139Ile)
n.656C>T
c.1072C>T
c.4736C>T (p.Thr1579Ile)
n.5119C>T
c.1925C>T (p.Thr642Ile)
n.5117C>T
14g.91278136G>CCA390612500CCDC88Cc.4844C>G (p.Thr1615Ser)
c.416C>G (p.Thr139Ser)
n.656C>G
c.1072C>G
c.4736C>G (p.Thr1579Ser)
n.5119C>G
c.1925C>G (p.Thr642Ser)
n.5117C>G
14g.91278136G>TCA390612501CCDC88Cc.4844C>A (p.Thr1615Asn)
c.416C>A (p.Thr139Asn)
n.656C>A
c.1072C>A
c.4736C>A (p.Thr1579Asn)
n.5119C>A
c.1925C>A (p.Thr642Asn)
n.5117C>A
14g.91278137_91278138delCA7308819CCDC88Cc.4843_4844del (p.Thr1615PhefsTer?)
c.415_416del (p.Thr139PhefsTer?)
n.655_656del
c.1071_1072del
c.4735_4736del (p.Thr1579PhefsTer?)
n.5118_5119del
c.1924_1925del (p.Thr642PhefsTer?)
n.5116_5117del
 dbSNP ExAC
14g.91278137T>ACA390612505CCDC88Cc.4843A>T (p.Thr1615Ser)
c.415A>T (p.Thr139Ser)
n.655A>T
c.1071A>T
c.4735A>T (p.Thr1579Ser)
n.5118A>T
c.1924A>T (p.Thr642Ser)
n.5116A>T
14g.91278137T>CCA390612506CCDC88Cc.4843A>G (p.Thr1615Ala)
c.415A>G (p.Thr139Ala)
n.655A>G
c.1071A>G
c.4735A>G (p.Thr1579Ala)
n.5118A>G
c.1924A>G (p.Thr642Ala)
n.5116A>G
14g.91278137T>GCA390612508CCDC88Cc.4843A>C (p.Thr1615Pro)
c.415A>C (p.Thr139Pro)
n.655A>C
c.1071A>C
c.4735A>C (p.Thr1579Pro)
n.5118A>C
c.1924A>C (p.Thr642Pro)
n.5116A>C
14g.91278138G>ACA487540392CCDC88Cc.4842C>T (p.Ala1614=)
c.414C>T (p.Ala138=)
n.654C>T
c.1070C>T
c.4734C>T (p.Ala1578=)
n.5117C>T
c.1923C>T (p.Ala641=)
n.5115C>T
14g.91278138G>CCA487540393CCDC88Cc.4842C>G (p.Ala1614=)
c.414C>G (p.Ala138=)
n.654C>G
c.1070C>G
c.4734C>G (p.Ala1578=)
n.5117C>G
c.1923C>G (p.Ala641=)
n.5115C>G
14g.91278138G>TCA487540395CCDC88Cc.4842C>A (p.Ala1614=)
c.414C>A (p.Ala138=)
n.654C>A
c.1070C>A
c.4734C>A (p.Ala1578=)
n.5117C>A
c.1923C>A (p.Ala641=)
n.5115C>A
14g.91278139G>ACA390612513CCDC88Cc.4841C>T (p.Ala1614Val)
c.413C>T (p.Ala138Val)
n.653C>T
c.1069C>T
c.4733C>T (p.Ala1578Val)
n.5116C>T
c.1922C>T (p.Ala641Val)
n.5114C>T
 COSMIC COSMIC COSMIC
14g.91278139G>CCA390612509CCDC88Cc.4841C>G (p.Ala1614Gly)
c.413C>G (p.Ala138Gly)
n.653C>G
c.1069C>G
c.4733C>G (p.Ala1578Gly)
n.5116C>G
c.1922C>G (p.Ala641Gly)
n.5114C>G
14g.91278139G>TCA390612511CCDC88Cc.4841C>A (p.Ala1614Asp)
c.413C>A (p.Ala138Asp)
n.653C>A
c.1069C>A
c.4733C>A (p.Ala1578Asp)
n.5116C>A
c.1922C>A (p.Ala641Asp)
n.5114C>A
14g.91278140C>ACA390612515CCDC88Cc.4840G>T (p.Ala1614Ser)
c.412G>T (p.Ala138Ser)
n.652G>T
c.1068G>T
c.4732G>T (p.Ala1578Ser)
n.5115G>T
c.1921G>T (p.Ala641Ser)
n.5113G>T
14g.91278140C>GCA390612518CCDC88Cc.4840G>C (p.Ala1614Pro)
c.412G>C (p.Ala138Pro)
n.652G>C
c.1068G>C
c.4732G>C (p.Ala1578Pro)
n.5115G>C
c.1921G>C (p.Ala641Pro)
n.5113G>C
14g.91278140C>TCA390612516CCDC88Cc.4840G>A (p.Ala1614Thr)
c.412G>A (p.Ala138Thr)
n.652G>A
c.1068G>A
c.4732G>A (p.Ala1578Thr)
n.5115G>A
c.1921G>A (p.Ala641Thr)
n.5113G>A
14g.91278141C>ACA487540398CCDC88Cc.4839G>T (p.Leu1613=)
c.411G>T (p.Leu137=)
n.651G>T
c.1067G>T
n.811G>T
c.4731G>T (p.Leu1577=)
n.5114G>T
c.1920G>T (p.Leu640=)
n.5112G>T
14g.91278141C=CA2154908921CCDC88Cc.4839G= (p.Leu1613=)
c.411G= (p.Leu137=)
n.651G=
c.1067G=
n.811G=
c.4731G= (p.Leu1577=)
n.5114G=
c.1920G= (p.Leu640=)
n.5112G=
14g.91278141C>GCA487540399CCDC88Cc.4839G>C (p.Leu1613=)
c.411G>C (p.Leu137=)
n.651G>C
c.1067G>C
n.811G>C
c.4731G>C (p.Leu1577=)
n.5114G>C
c.1920G>C (p.Leu640=)
n.5112G>C
14g.91278141C>TCA265524123CCDC88Cc.4839G>A (p.Leu1613=)
c.411G>A (p.Leu137=)
n.651G>A
c.1067G>A
n.811G>A
c.4731G>A (p.Leu1577=)
n.5114G>A
c.1920G>A (p.Leu640=)
n.5112G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91278142A=CA2154908922CCDC88Cc.4838T= (p.Leu1613=)
c.410T= (p.Leu137=)
n.650T=
c.1066T=
n.810T=
c.4730T= (p.Leu1577=)
n.5113T=
c.1919T= (p.Leu640=)
n.5111T=
14g.91278142A>CCA390612520CCDC88Cc.4838T>G (p.Leu1613Arg)
c.410T>G (p.Leu137Arg)
n.650T>G
c.1066T>G
n.810T>G
c.4730T>G (p.Leu1577Arg)
n.5113T>G
c.1919T>G (p.Leu640Arg)
n.5111T>G
 dbSNP
14g.91278142A>GCA390612524CCDC88Cc.4838T>C (p.Leu1613Pro)
c.410T>C (p.Leu137Pro)
n.650T>C
c.1066T>C
n.810T>C
c.4730T>C (p.Leu1577Pro)
n.5113T>C
c.1919T>C (p.Leu640Pro)
n.5111T>C
14g.91278142A>TCA390612522CCDC88Cc.4838T>A (p.Leu1613Gln)
c.410T>A (p.Leu137Gln)
n.650T>A
c.1066T>A
n.810T>A
c.4730T>A (p.Leu1577Gln)
n.5113T>A
c.1919T>A (p.Leu640Gln)
n.5111T>A
14g.91278143G>ACA487540402CCDC88Cc.4837C>T (p.Leu1613=)
c.409C>T (p.Leu137=)
n.649C>T
c.1065C>T
n.809C>T
c.4729C>T (p.Leu1577=)
n.5112C>T
c.1918C>T (p.Leu640=)
n.5110C>T
14g.91278143G>CCA390612526CCDC88Cc.4837C>G (p.Leu1613Val)
c.409C>G (p.Leu137Val)
n.649C>G
c.1065C>G
n.809C>G
c.4729C>G (p.Leu1577Val)
n.5112C>G
c.1918C>G (p.Leu640Val)
n.5110C>G
14g.91278143G>TCA390612528CCDC88Cc.4837C>A (p.Leu1613Met)
c.409C>A (p.Leu137Met)
n.649C>A
c.1065C>A
n.809C>A
c.4729C>A (p.Leu1577Met)
n.5112C>A
c.1918C>A (p.Leu640Met)
n.5110C>A
14g.91278144G>ACA487540406CCDC88Cc.4836C>T (p.Asp1612=)
c.408C>T (p.Asp136=)
n.648C>T
c.1064C>T
n.808C>T
c.4728C>T (p.Asp1576=)
n.5111C>T
c.1917C>T (p.Asp639=)
n.5109C>T
14g.91278144G>CCA390612530CCDC88Cc.4836C>G (p.Asp1612Glu)
c.408C>G (p.Asp136Glu)
n.648C>G
c.1064C>G
n.808C>G
c.4728C>G (p.Asp1576Glu)
n.5111C>G
c.1917C>G (p.Asp639Glu)
n.5109C>G
14g.91278144G>TCA390612532CCDC88Cc.4836C>A (p.Asp1612Glu)
c.408C>A (p.Asp136Glu)
n.648C>A
c.1064C>A
n.808C>A
c.4728C>A (p.Asp1576Glu)
n.5111C>A
c.1917C>A (p.Asp639Glu)
n.5109C>A
14g.91278145T>ACA390612534CCDC88Cc.4835A>T (p.Asp1612Val)
c.407A>T (p.Asp136Val)
n.647A>T
c.1063A>T
n.807A>T
c.4727A>T (p.Asp1576Val)
n.5110A>T
c.1916A>T (p.Asp639Val)
n.5108A>T
14g.91278145T>CCA390612538CCDC88Cc.4835A>G (p.Asp1612Gly)
c.407A>G (p.Asp136Gly)
n.647A>G
c.1063A>G
n.807A>G
c.4727A>G (p.Asp1576Gly)
n.5110A>G
c.1916A>G (p.Asp639Gly)
n.5108A>G
 dbSNP
14g.91278145T>GCA390612536CCDC88Cc.4835A>C (p.Asp1612Ala)
c.407A>C (p.Asp136Ala)
n.647A>C
c.1063A>C
n.807A>C
c.4727A>C (p.Asp1576Ala)
n.5110A>C
c.1916A>C (p.Asp639Ala)
n.5108A>C
 dbSNP
14g.91278145T=CA2154908923CCDC88Cc.4835A= (p.Asp1612=)
c.407A= (p.Asp136=)
n.647A=
c.1063A=
n.807A=
c.4727A= (p.Asp1576=)
n.5110A=
c.1916A= (p.Asp639=)
n.5108A=
14g.91278146C>ACA7308820CCDC88Cc.4834G>T (p.Asp1612Tyr)
c.406G>T (p.Asp136Tyr)
n.646G>T
c.1062G>T
n.806G>T
c.4726G>T (p.Asp1576Tyr)
n.5109G>T
c.1915G>T (p.Asp639Tyr)
n.5107G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91278146C=CA2154908924CCDC88Cc.4834G= (p.Asp1612=)
c.406G= (p.Asp136=)
n.646G=
c.1062G=
n.806G=
c.4726G= (p.Asp1576=)
n.5109G=
c.1915G= (p.Asp639=)
n.5107G=
14g.91278146C>GCA390612542CCDC88Cc.4834G>C (p.Asp1612His)
c.406G>C (p.Asp136His)
n.646G>C
c.1062G>C
n.806G>C
c.4726G>C (p.Asp1576His)
n.5109G>C
c.1915G>C (p.Asp639His)
n.5107G>C
14g.91278146C>TCA390612541CCDC88Cc.4834G>A (p.Asp1612Asn)
c.406G>A (p.Asp136Asn)
n.646G>A
c.1062G>A
n.806G>A
c.4726G>A (p.Asp1576Asn)
n.5109G>A
c.1915G>A (p.Asp639Asn)
n.5107G>A
14g.91278147C>ACA390612544CCDC88Cc.4833G>T (p.Arg1611Ser)
c.405G>T (p.Arg135Ser)
n.645G>T
c.1061G>T
n.805G>T
c.4725G>T (p.Arg1575Ser)
n.5108G>T
c.1914G>T (p.Arg638Ser)
n.5106G>T
14g.91278147C>GCA390612546CCDC88Cc.4833G>C (p.Arg1611Ser)
c.405G>C (p.Arg135Ser)
n.645G>C
c.1061G>C
n.805G>C
c.4725G>C (p.Arg1575Ser)
n.5108G>C
c.1914G>C (p.Arg638Ser)
n.5106G>C
14g.91278147C>TCA487540414CCDC88Cc.4833G>A (p.Arg1611=)
c.405G>A (p.Arg135=)
n.645G>A
c.1061G>A
n.805G>A
c.4725G>A (p.Arg1575=)
n.5108G>A
c.1914G>A (p.Arg638=)
n.5106G>A
14g.91278148C>ACA390612547CCDC88Cc.4832G>T (p.Arg1611Met)
c.404G>T (p.Arg135Met)
n.644G>T
c.1060G>T
n.804G>T
c.4724G>T (p.Arg1575Met)
n.5107G>T
c.1913G>T (p.Arg638Met)
n.5105G>T
14g.91278148C=CA2154908925CCDC88Cc.4832G= (p.Arg1611=)
c.404G= (p.Arg135=)
n.644G=
c.1060G=
n.804G=
c.4724G= (p.Arg1575=)
n.5107G=
c.1913G= (p.Arg638=)
n.5105G=
14g.91278148C>GCA390612548CCDC88Cc.4832G>C (p.Arg1611Thr)
c.404G>C (p.Arg135Thr)
n.644G>C
c.1060G>C
n.804G>C
c.4724G>C (p.Arg1575Thr)
n.5107G>C
c.1913G>C (p.Arg638Thr)
n.5105G>C
14g.91278148C>TCA7308821CCDC88Cc.4832G>A (p.Arg1611Lys)
c.404G>A (p.Arg135Lys)
n.644G>A
c.1060G>A
n.804G>A
c.4724G>A (p.Arg1575Lys)
n.5107G>A
c.1913G>A (p.Arg638Lys)
n.5105G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91278149T>ACA390612551CCDC88Cc.4831A>T (p.Arg1611Trp)
c.403A>T (p.Arg135Trp)
n.643A>T
c.1059A>T
n.803A>T
c.4723A>T (p.Arg1575Trp)
n.5106A>T
c.1912A>T (p.Arg638Trp)
n.5104A>T
14g.91278149T>CCA390612552CCDC88Cc.4831A>G (p.Arg1611Gly)
c.403A>G (p.Arg135Gly)
n.643A>G
c.1059A>G
n.803A>G
c.4723A>G (p.Arg1575Gly)
n.5106A>G
c.1912A>G (p.Arg638Gly)
n.5104A>G
14g.91278149T>GCA487540415CCDC88Cc.4831A>C (p.Arg1611=)
c.403A>C (p.Arg135=)
n.643A>C
c.1059A>C
n.803A>C
c.4723A>C (p.Arg1575=)
n.5106A>C
c.1912A>C (p.Arg638=)
n.5104A>C
14g.91278150G>ACA487540416CCDC88Cc.4830C>T (p.Ser1610=)
c.402C>T (p.Ser134=)
n.642C>T
c.1058C>T
n.802C>T
c.4722C>T (p.Ser1574=)
n.5105C>T
c.1911C>T (p.Ser637=)
n.5103C>T
 gnomAD v4
14g.91278150G>CCA390612553CCDC88Cc.4830C>G (p.Ser1610Arg)
c.402C>G (p.Ser134Arg)
n.642C>G
c.1058C>G
n.802C>G
c.4722C>G (p.Ser1574Arg)
n.5105C>G
c.1911C>G (p.Ser637Arg)
n.5103C>G
14g.91278150G>TCA390612555CCDC88Cc.4830C>A (p.Ser1610Arg)
c.402C>A (p.Ser134Arg)
n.642C>A
c.1058C>A
n.802C>A
c.4722C>A (p.Ser1574Arg)
n.5105C>A
c.1911C>A (p.Ser637Arg)
n.5103C>A
14g.91278151C>ACA390612557CCDC88Cc.4829G>T (p.Ser1610Ile)
c.401G>T (p.Ser134Ile)
n.641G>T
c.1057G>T
n.801G>T
c.4721G>T (p.Ser1574Ile)
n.5104G>T
c.1910G>T (p.Ser637Ile)
n.5102G>T
14g.91278151C>GCA390612558CCDC88Cc.4829G>C (p.Ser1610Thr)
c.401G>C (p.Ser134Thr)
n.641G>C
c.1057G>C
n.801G>C
c.4721G>C (p.Ser1574Thr)
n.5104G>C
c.1910G>C (p.Ser637Thr)
n.5102G>C
14g.91278151C>TCA390612559CCDC88Cc.4829G>A (p.Ser1610Asn)
c.401G>A (p.Ser134Asn)
n.641G>A
c.1057G>A
n.801G>A
c.4721G>A (p.Ser1574Asn)
n.5104G>A
c.1910G>A (p.Ser637Asn)
n.5102G>A
14g.91278152T>ACA390612561CCDC88Cc.4828A>T (p.Ser1610Cys)
c.400A>T (p.Ser134Cys)
n.640A>T
c.1056A>T
n.800A>T
c.4720A>T (p.Ser1574Cys)
n.5103A>T
c.1909A>T (p.Ser637Cys)
n.5101A>T
14g.91278152T>CCA7308822CCDC88Cc.4828A>G (p.Ser1610Gly)
c.400A>G (p.Ser134Gly)
n.640A>G
c.1056A>G
n.800A>G
c.4720A>G (p.Ser1574Gly)
n.5103A>G
c.1909A>G (p.Ser637Gly)
n.5101A>G
 dbSNP ExAC gnomAD v2
14g.91278152T>GCA390612564CCDC88Cc.4828A>C (p.Ser1610Arg)
c.400A>C (p.Ser134Arg)
n.640A>C
c.1056A>C
n.800A>C
c.4720A>C (p.Ser1574Arg)
n.5103A>C
c.1909A>C (p.Ser637Arg)
n.5101A>C
14g.91278152T=CA2154908926CCDC88Cc.4828A= (p.Ser1610=)
c.400A= (p.Ser134=)
n.640A=
c.1056A=
n.800A=
c.4720A= (p.Ser1574=)
n.5103A=
c.1909A= (p.Ser637=)
n.5101A=
14g.91278153G>ACA487540420CCDC88Cc.4827C>T (p.Pro1609=)
c.399C>T (p.Pro133=)
n.639C>T
c.1055C>T
n.799C>T
c.4719C>T (p.Pro1573=)
n.5102C>T
c.1908C>T (p.Pro636=)
n.5100C>T
 ClinVar dbSNP gnomAD v4
14g.91278153G>CCA487540421CCDC88Cc.4827C>G (p.Pro1609=)
c.399C>G (p.Pro133=)
n.639C>G
c.1055C>G
n.799C>G
c.4719C>G (p.Pro1573=)
n.5102C>G
c.1908C>G (p.Pro636=)
n.5100C>G
14g.91278153G=CA2154908927CCDC88Cc.4827C= (p.Pro1609=)
c.399C= (p.Pro133=)
n.639C=
c.1055C=
n.799C=
c.4719C= (p.Pro1573=)
n.5102C=
c.1908C= (p.Pro636=)
n.5100C=
14g.91278153G>TCA487540422CCDC88Cc.4827C>A (p.Pro1609=)
c.399C>A (p.Pro133=)
n.639C>A
c.1055C>A
n.799C>A
c.4719C>A (p.Pro1573=)
n.5102C>A
c.1908C>A (p.Pro636=)
n.5100C>A
14g.91278154G>ACA390612565CCDC88Cc.4826C>T (p.Pro1609Leu)
c.398C>T (p.Pro133Leu)
n.638C>T
c.1054C>T
n.798C>T
c.4718C>T (p.Pro1573Leu)
n.5101C>T
c.1907C>T (p.Pro636Leu)
n.5099C>T
14g.91278154G>CCA390612566CCDC88Cc.4826C>G (p.Pro1609Arg)
c.398C>G (p.Pro133Arg)
n.638C>G
c.1054C>G
n.798C>G
c.4718C>G (p.Pro1573Arg)
n.5101C>G
c.1907C>G (p.Pro636Arg)
n.5099C>G
 dbSNP gnomAD v2 gnomAD v4
14g.91278154G=CA2154908928CCDC88Cc.4826C= (p.Pro1609=)
c.398C= (p.Pro133=)
n.638C=
c.1054C=
n.798C=
c.4718C= (p.Pro1573=)
n.5101C=
c.1907C= (p.Pro636=)
n.5099C=
14g.91278154G>TCA390612567CCDC88Cc.4826C>A (p.Pro1609His)
c.398C>A (p.Pro133His)
n.638C>A
c.1054C>A
n.798C>A
c.4718C>A (p.Pro1573His)
n.5101C>A
c.1907C>A (p.Pro636His)
n.5099C>A
14g.91278155G>ACA390612569CCDC88Cc.4825C>T (p.Pro1609Ser)
c.397C>T (p.Pro133Ser)
n.637C>T
c.1053C>T
n.797C>T
c.4717C>T (p.Pro1573Ser)
n.5100C>T
c.1906C>T (p.Pro636Ser)
n.5098C>T
14g.91278155G>CCA390612573CCDC88Cc.4825C>G (p.Pro1609Ala)
c.397C>G (p.Pro133Ala)
n.637C>G
c.1053C>G
n.797C>G
c.4717C>G (p.Pro1573Ala)
n.5100C>G
c.1906C>G (p.Pro636Ala)
n.5098C>G
14g.91278155G=CA2154908929CCDC88Cc.4825C= (p.Pro1609=)
c.397C= (p.Pro133=)
n.637C=
c.1053C=
n.797C=
c.4717C= (p.Pro1573=)
n.5100C=
c.1906C= (p.Pro636=)
n.5098C=
14g.91278155G>TCA390612570CCDC88Cc.4825C>A (p.Pro1609Thr)
c.397C>A (p.Pro133Thr)
n.637C>A
c.1053C>A
n.797C>A
c.4717C>A (p.Pro1573Thr)
n.5100C>A
c.1906C>A (p.Pro636Thr)
n.5098C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91278156G>ACA487540427CCDC88Cc.4824C>T (p.Ile1608=)
c.396C>T (p.Ile132=)
n.636C>T
c.1052C>T
n.796C>T
c.4716C>T (p.Ile1572=)
n.5099C>T
c.1905C>T (p.Ile635=)
n.5097C>T
14g.91278156G>CCA390612575CCDC88Cc.4824C>G (p.Ile1608Met)
c.396C>G (p.Ile132Met)
n.636C>G
c.1052C>G
n.796C>G
c.4716C>G (p.Ile1572Met)
n.5099C>G
c.1905C>G (p.Ile635Met)
n.5097C>G
14g.91278156G>TCA487540425CCDC88Cc.4824C>A (p.Ile1608=)
c.396C>A (p.Ile132=)
n.636C>A
c.1052C>A
n.796C>A
c.4716C>A (p.Ile1572=)
n.5099C>A
c.1905C>A (p.Ile635=)
n.5097C>A
 gnomAD v4
14g.91278157A>CCA390612576CCDC88Cc.4823T>G (p.Ile1608Ser)
c.395T>G (p.Ile132Ser)
n.635T>G
c.1051T>G
n.795T>G
c.4715T>G (p.Ile1572Ser)
n.5098T>G
c.1904T>G (p.Ile635Ser)
n.5096T>G
14g.91278157A>GCA390612578CCDC88Cc.4823T>C (p.Ile1608Thr)
c.395T>C (p.Ile132Thr)
n.635T>C
c.1051T>C
n.795T>C
c.4715T>C (p.Ile1572Thr)
n.5098T>C
c.1904T>C (p.Ile635Thr)
n.5096T>C
14g.91278157A>TCA390612579CCDC88Cc.4823T>A (p.Ile1608Asn)
c.395T>A (p.Ile132Asn)
n.635T>A
c.1051T>A
n.795T>A
c.4715T>A (p.Ile1572Asn)
n.5098T>A
c.1904T>A (p.Ile635Asn)
n.5096T>A
14g.91278158T>ACA390612581CCDC88Cc.4822A>T (p.Ile1608Phe)
c.394A>T (p.Ile132Phe)
n.634A>T
c.1050A>T
n.794A>T
c.4714A>T (p.Ile1572Phe)
n.5097A>T
c.1903A>T (p.Ile635Phe)
n.5095A>T
14g.91278158T>CCA390612582CCDC88Cc.4822A>G (p.Ile1608Val)
c.394A>G (p.Ile132Val)
n.634A>G
c.1050A>G
n.794A>G
c.4714A>G (p.Ile1572Val)
n.5097A>G
c.1903A>G (p.Ile635Val)
n.5095A>G
14g.91278158T>GCA390612584CCDC88Cc.4822A>C (p.Ile1608Leu)
c.394A>C (p.Ile132Leu)
n.634A>C
c.1050A>C
n.794A>C
c.4714A>C (p.Ile1572Leu)
n.5097A>C
c.1903A>C (p.Ile635Leu)
n.5095A>C
14g.91278159C>ACA487540430CCDC88Cc.4821G>T (p.Leu1607=)
c.393G>T (p.Leu131=)
n.633G>T
c.1049G>T
n.793G>T
c.4713G>T (p.Leu1571=)
n.5096G>T
c.1902G>T (p.Leu634=)
n.5094G>T
14g.91278159C>GCA487540429CCDC88Cc.4821G>C (p.Leu1607=)
c.393G>C (p.Leu131=)
n.633G>C
c.1049G>C
n.793G>C
c.4713G>C (p.Leu1571=)
n.5096G>C
c.1902G>C (p.Leu634=)
n.5094G>C
14g.91278159C>TCA487540428CCDC88Cc.4821G>A (p.Leu1607=)
c.393G>A (p.Leu131=)
n.633G>A
c.1049G>A
n.793G>A
c.4713G>A (p.Leu1571=)
n.5096G>A
c.1902G>A (p.Leu634=)
n.5094G>A
14g.91278160A=CA2154908930CCDC88Cc.4820T= (p.Leu1607=)
c.392T= (p.Leu131=)
n.632T=
c.1048T=
n.792T=
c.4712T= (p.Leu1571=)
n.5095T=
c.1901T= (p.Leu634=)
n.5093T=
14g.91278160A>CCA390612586CCDC88Cc.4820T>G (p.Leu1607Arg)
c.392T>G (p.Leu131Arg)
n.632T>G
c.1048T>G
n.792T>G
c.4712T>G (p.Leu1571Arg)
n.5095T>G
c.1901T>G (p.Leu634Arg)
n.5093T>G
14g.91278160A>GCA7308823CCDC88Cc.4820T>C (p.Leu1607Pro)
c.392T>C (p.Leu131Pro)
n.632T>C
c.1048T>C
n.792T>C
c.4712T>C (p.Leu1571Pro)
n.5095T>C
c.1901T>C (p.Leu634Pro)
n.5093T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91278160A>TCA390612588CCDC88Cc.4820T>A (p.Leu1607Gln)
c.392T>A (p.Leu131Gln)
n.632T>A
c.1048T>A
n.792T>A
c.4712T>A (p.Leu1571Gln)
n.5095T>A
c.1901T>A (p.Leu634Gln)
n.5093T>A
14g.91278161G>ACA487540432CCDC88Cc.4819C>T (p.Leu1607=)
c.391C>T (p.Leu131=)
n.631C>T
c.1047C>T
n.791C>T
c.4711C>T (p.Leu1571=)
n.5094C>T
c.1900C>T (p.Leu634=)
n.5092C>T
14g.91278161G>CCA390612591CCDC88Cc.4819C>G (p.Leu1607Val)
c.391C>G (p.Leu131Val)
n.631C>G
c.1047C>G
n.791C>G
c.4711C>G (p.Leu1571Val)
n.5094C>G
c.1900C>G (p.Leu634Val)
n.5092C>G
14g.91278161G=CA2154908931CCDC88Cc.4819C= (p.Leu1607=)
c.391C= (p.Leu131=)
n.631C=
c.1047C=
n.791C=
c.4711C= (p.Leu1571=)
n.5094C=
c.1900C= (p.Leu634=)
n.5092C=
14g.91278161G>TCA390612592CCDC88Cc.4819C>A (p.Leu1607Met)
c.391C>A (p.Leu131Met)
n.631C>A
c.1047C>A
n.791C>A
c.4711C>A (p.Leu1571Met)
n.5094C>A
c.1900C>A (p.Leu634Met)
n.5092C>A
14g.91278161_91278162insAGAAACTCAGGGGATGGGTTCTGTGGTCTGGCAAGGCCCCCACA616112387CCDC88Cc.4818_4819insTGGGGGCCTTGCCAGACCACAGAACCCATCCCCTGAGTTTCT
c.390_391insTGGGGGCCTTGCCAGACCACAGAACCCATCCCCTGAGTTTCT
n.630_631insTGGGGGCCTTGCCAGACCACAGAACCCATCCCCTGAGTTTCT
c.1046_1047insTGGGGGCCTTGCCAGACCACAGAACCCATCCCCTGAGTTTCT
n.790_791insTGGGGGCCTTGCCAGACCACAGAACCCATCCCCTGAGTTTCT
c.4710_4711insTGGGGGCCTTGCCAGACCACAGAACCCATCCCCTGAGTTTCT
n.5093_5094insTGGGGGCCTTGCCAGACCACAGAACCCATCCCCTGAGTTTCT
c.1899_1900insTGGGGGCCTTGCCAGACCACAGAACCCATCCCCTGAGTTTCT
n.5091_5092insTGGGGGCCTTGCCAGACCACAGAACCCATCCCCTGAGTTTCT
 dbSNP gnomAD v2
14g.91278162G>ACA487540433CCDC88Cc.4818C>T (p.Asp1606=)
c.390C>T (p.Asp130=)
n.630C>T
c.1046C>T
n.790C>T
c.4710C>T (p.Asp1570=)
n.5093C>T
c.1899C>T (p.Asp633=)
n.5091C>T
 gnomAD v2
14g.91278162G>CCA390612593CCDC88Cc.4818C>G (p.Asp1606Glu)
c.390C>G (p.Asp130Glu)
n.630C>G
c.1046C>G
n.790C>G
c.4710C>G (p.Asp1570Glu)
n.5093C>G
c.1899C>G (p.Asp633Glu)
n.5091C>G
14g.91278162G=CA2154908932CCDC88Cc.4818C= (p.Asp1606=)
c.390C= (p.Asp130=)
n.630C=
c.1046C=
n.790C=
c.4710C= (p.Asp1570=)
n.5093C=
c.1899C= (p.Asp633=)
n.5091C=
14g.91278162G>TCA7308824CCDC88Cc.4818C>A (p.Asp1606Glu)
c.390C>A (p.Asp130Glu)
n.630C>A
c.1046C>A
n.790C>A
c.4710C>A (p.Asp1570Glu)
n.5093C>A
c.1899C>A (p.Asp633Glu)
n.5091C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91278163T>ACA390612597CCDC88Cc.4817A>T (p.Asp1606Val)
c.389A>T (p.Asp130Val)
n.629A>T
c.1045A>T
n.789A>T
c.4709A>T (p.Asp1570Val)
n.5092A>T
c.1898A>T (p.Asp633Val)
n.5090A>T
 dbSNP
14g.91278163T>CCA390612598CCDC88Cc.4817A>G (p.Asp1606Gly)
c.389A>G (p.Asp130Gly)
n.629A>G
c.1045A>G
n.789A>G
c.4709A>G (p.Asp1570Gly)
n.5092A>G
c.1898A>G (p.Asp633Gly)
n.5090A>G
 gnomAD v4
14g.91278163T>GCA390612600CCDC88Cc.4817A>C (p.Asp1606Ala)
c.389A>C (p.Asp130Ala)
n.629A>C
c.1045A>C
n.789A>C
c.4709A>C (p.Asp1570Ala)
n.5092A>C
c.1898A>C (p.Asp633Ala)
n.5090A>C
14g.91278163T=CA2154908933CCDC88Cc.4817A= (p.Asp1606=)
c.389A= (p.Asp130=)
n.629A=
c.1045A=
n.789A=
c.4709A= (p.Asp1570=)
n.5092A=
c.1898A= (p.Asp633=)
n.5090A=
14g.91278164C>ACA390612602CCDC88Cc.4816G>T (p.Asp1606Tyr)
c.388G>T (p.Asp130Tyr)
n.628G>T
c.1044G>T
n.788G>T
c.4708G>T (p.Asp1570Tyr)
n.5091G>T
c.1897G>T (p.Asp633Tyr)
n.5089G>T
14g.91278164C>GCA390612604CCDC88Cc.4816G>C (p.Asp1606His)
c.388G>C (p.Asp130His)
n.628G>C
c.1044G>C
n.788G>C
c.4708G>C (p.Asp1570His)
n.5091G>C
c.1897G>C (p.Asp633His)
n.5089G>C
14g.91278164C>TCA390612606CCDC88Cc.4816G>A (p.Asp1606Asn)
c.388G>A (p.Asp130Asn)
n.628G>A
c.1044G>A
n.788G>A
c.4708G>A (p.Asp1570Asn)
n.5091G>A
c.1897G>A (p.Asp633Asn)
n.5089G>A
14g.91278165T>ACA390612608CCDC88Cc.4815A>T (p.Glu1605Asp)
c.387A>T (p.Glu129Asp)
n.627A>T
c.1043A>T
n.787A>T
c.4707A>T (p.Glu1569Asp)
n.5090A>T
c.1896A>T (p.Glu632Asp)
n.5088A>T
14g.91278165T>CCA487540435CCDC88Cc.4815A>G (p.Glu1605=)
c.387A>G (p.Glu129=)
n.627A>G
c.1043A>G
n.787A>G
c.4707A>G (p.Glu1569=)
n.5090A>G
c.1896A>G (p.Glu632=)
n.5088A>G
 gnomAD v4
14g.91278165T>GCA390612609CCDC88Cc.4815A>C (p.Glu1605Asp)
c.387A>C (p.Glu129Asp)
n.627A>C
c.1043A>C
n.787A>C
c.4707A>C (p.Glu1569Asp)
n.5090A>C
c.1896A>C (p.Glu632Asp)
n.5088A>C
14g.91278166T>ACA390612611CCDC88Cc.4814A>T (p.Glu1605Val)
c.386A>T (p.Glu129Val)
n.626A>T
c.1042A>T
n.786A>T
c.4706A>T (p.Glu1569Val)
n.5089A>T
c.1895A>T (p.Glu632Val)
n.5087A>T
14g.91278166T>CCA390612614CCDC88Cc.4814A>G (p.Glu1605Gly)
c.386A>G (p.Glu129Gly)
n.626A>G
c.1042A>G
n.786A>G
c.4706A>G (p.Glu1569Gly)
n.5089A>G
c.1895A>G (p.Glu632Gly)
n.5087A>G
14g.91278166T>GCA390612616CCDC88Cc.4814A>C (p.Glu1605Ala)
c.386A>C (p.Glu129Ala)
n.626A>C
c.1042A>C
n.786A>C
c.4706A>C (p.Glu1569Ala)
n.5089A>C
c.1895A>C (p.Glu632Ala)
n.5087A>C
14g.91278167C>ACA390612619CCDC88Cc.4813G>T (p.Glu1605Ter)
c.385G>T (p.Glu129Ter)
n.625G>T
c.1041G>T
n.785G>T
c.4705G>T (p.Glu1569Ter)
n.5088G>T
c.1894G>T (p.Glu632Ter)
n.5086G>T
 gnomAD v4
14g.91278167C=CA2154908934CCDC88Cc.4813G= (p.Glu1605=)
c.385G= (p.Glu129=)
n.625G=
c.1041G=
n.785G=
c.4705G= (p.Glu1569=)
n.5088G=
c.1894G= (p.Glu632=)
n.5086G=
14g.91278167C>GCA390612621CCDC88Cc.4813G>C (p.Glu1605Gln)
c.385G>C (p.Glu129Gln)
n.625G>C
c.1041G>C
n.785G>C
c.4705G>C (p.Glu1569Gln)
n.5088G>C
c.1894G>C (p.Glu632Gln)
n.5086G>C
14g.91278167C>TCA7308825CCDC88Cc.4813G>A (p.Glu1605Lys)
c.385G>A (p.Glu129Lys)
n.625G>A
c.1041G>A
n.785G>A
c.4705G>A (p.Glu1569Lys)
n.5088G>A
c.1894G>A (p.Glu632Lys)
n.5086G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91278168G>ACA487540436CCDC88Cc.4812C>T (p.Ser1604=)
c.384C>T (p.Ser128=)
n.624C>T
c.1040C>T
n.784C>T
c.4704C>T (p.Ser1568=)
n.5087C>T
c.1893C>T (p.Ser631=)
n.5085C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.91278168G>CCA390612623CCDC88Cc.4812C>G (p.Ser1604Arg)
c.384C>G (p.Ser128Arg)
n.624C>G
c.1040C>G
n.784C>G
c.4704C>G (p.Ser1568Arg)
n.5087C>G
c.1893C>G (p.Ser631Arg)
n.5085C>G
 dbSNP
14g.91278168G=CA2154908935CCDC88Cc.4812C= (p.Ser1604=)
c.384C= (p.Ser128=)
n.624C=
c.1040C=
n.784C=
c.4704C= (p.Ser1568=)
n.5087C=
c.1893C= (p.Ser631=)
n.5085C=
14g.91278168G>TCA390612625CCDC88Cc.4812C>A (p.Ser1604Arg)
c.384C>A (p.Ser128Arg)
n.624C>A
c.1040C>A
n.784C>A
c.4704C>A (p.Ser1568Arg)
n.5087C>A
c.1893C>A (p.Ser631Arg)
n.5085C>A
14g.91278169C>ACA7308826CCDC88Cc.4811G>T (p.Ser1604Ile)
c.383G>T (p.Ser128Ile)
n.623G>T
c.1039G>T
n.783G>T
c.4703G>T (p.Ser1568Ile)
n.5086G>T
c.1892G>T (p.Ser631Ile)
n.5084G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91278169C=CA2154908936CCDC88Cc.4811G= (p.Ser1604=)
c.383G= (p.Ser128=)
n.623G=
c.1039G=
n.783G=
c.4703G= (p.Ser1568=)
n.5086G=
c.1892G= (p.Ser631=)
n.5084G=
14g.91278169C>GCA390612628CCDC88Cc.4811G>C (p.Ser1604Thr)
c.383G>C (p.Ser128Thr)
n.623G>C
c.1039G>C
n.783G>C
c.4703G>C (p.Ser1568Thr)
n.5086G>C
c.1892G>C (p.Ser631Thr)
n.5084G>C
14g.91278169C>TCA390612630CCDC88Cc.4811G>A (p.Ser1604Asn)
c.383G>A (p.Ser128Asn)
n.623G>A
c.1039G>A
n.783G>A
c.4703G>A (p.Ser1568Asn)
n.5086G>A
c.1892G>A (p.Ser631Asn)
n.5084G>A
14g.91278170T>ACA390612632CCDC88Cc.4810A>T (p.Ser1604Cys)
c.382A>T (p.Ser128Cys)
n.622A>T
c.1038A>T
n.782A>T
c.4702A>T (p.Ser1568Cys)
n.5085A>T
c.1891A>T (p.Ser631Cys)
n.5083A>T
14g.91278170T>CCA390612634CCDC88Cc.4810A>G (p.Ser1604Gly)
c.382A>G (p.Ser128Gly)
n.622A>G
c.1038A>G
n.782A>G
c.4702A>G (p.Ser1568Gly)
n.5085A>G
c.1891A>G (p.Ser631Gly)
n.5083A>G
14g.91278170T>GCA390612635CCDC88Cc.4810A>C (p.Ser1604Arg)
c.382A>C (p.Ser128Arg)
n.622A>C
c.1038A>C
n.782A>C
c.4702A>C (p.Ser1568Arg)
n.5085A>C
c.1891A>C (p.Ser631Arg)
n.5083A>C
14g.91278171G>ACA487540440CCDC88Cc.4809C>T (p.Ser1603=)
c.381C>T (p.Ser127=)
n.621C>T
c.1037C>T
n.781C>T
c.4701C>T (p.Ser1567=)
n.5084C>T
c.1890C>T (p.Ser630=)
n.5082C>T
 dbSNP
14g.91278171G>CCA390612638CCDC88Cc.4809C>G (p.Ser1603Arg)
c.381C>G (p.Ser127Arg)
n.621C>G
c.1037C>G
n.781C>G
c.4701C>G (p.Ser1567Arg)
n.5084C>G
c.1890C>G (p.Ser630Arg)
n.5082C>G
14g.91278171G=CA2154908937CCDC88Cc.4809C= (p.Ser1603=)
c.381C= (p.Ser127=)
n.621C=
c.1037C=
n.781C=
c.4701C= (p.Ser1567=)
n.5084C=
c.1890C= (p.Ser630=)
n.5082C=
14g.91278171G>TCA390612640CCDC88Cc.4809C>A (p.Ser1603Arg)
c.381C>A (p.Ser127Arg)
n.621C>A
c.1037C>A
n.781C>A
c.4701C>A (p.Ser1567Arg)
n.5084C>A
c.1890C>A (p.Ser630Arg)
n.5082C>A
 gnomAD v4
14g.91278172C>ACA390612644CCDC88Cc.4808G>T (p.Ser1603Ile)
c.380G>T (p.Ser127Ile)
n.620G>T
c.1036G>T
n.780G>T
c.4700G>T (p.Ser1567Ile)
n.5083G>T
c.1889G>T (p.Ser630Ile)
n.5081G>T
 gnomAD v4
14g.91278172C=CA2154908938CCDC88Cc.4808G= (p.Ser1603=)
c.380G= (p.Ser127=)
n.620G=
c.1036G=
n.780G=
c.4700G= (p.Ser1567=)
n.5083G=
c.1889G= (p.Ser630=)
n.5081G=
14g.91278172C>GCA390612642CCDC88Cc.4808G>C (p.Ser1603Thr)
c.380G>C (p.Ser127Thr)
n.620G>C
c.1036G>C
n.780G>C
c.4700G>C (p.Ser1567Thr)
n.5083G>C
c.1889G>C (p.Ser630Thr)
n.5081G>C
14g.91278172C>TCA390612641CCDC88Cc.4808G>A (p.Ser1603Asn)
c.380G>A (p.Ser127Asn)
n.620G>A
c.1036G>A
n.780G>A
c.4700G>A (p.Ser1567Asn)
n.5083G>A
c.1889G>A (p.Ser630Asn)
n.5081G>A
 ClinVar dbSNP gnomAD v4
14g.91278173T>ACA390612645CCDC88Cc.4807A>T (p.Ser1603Cys)
c.379A>T (p.Ser127Cys)
n.619A>T
c.1035A>T
n.779A>T
c.4699A>T (p.Ser1567Cys)
n.5082A>T
c.1888A>T (p.Ser630Cys)
n.5080A>T
14g.91278173T>CCA390612647CCDC88Cc.4807A>G (p.Ser1603Gly)
c.379A>G (p.Ser127Gly)
n.619A>G
c.1035A>G
n.779A>G
c.4699A>G (p.Ser1567Gly)
n.5082A>G
c.1888A>G (p.Ser630Gly)
n.5080A>G
14g.91278173T>GCA390612646CCDC88Cc.4807A>C (p.Ser1603Arg)
c.379A>C (p.Ser127Arg)
n.619A>C
c.1035A>C
n.779A>C
c.4699A>C (p.Ser1567Arg)
n.5082A>C
c.1888A>C (p.Ser630Arg)
n.5080A>C
14g.91278174G>ACA487540441CCDC88Cc.4806C>T (p.Phe1602=)
c.378C>T (p.Phe126=)
n.618C>T
c.1034C>T
n.778C>T
c.4698C>T (p.Phe1566=)
n.5081C>T
c.1887C>T (p.Phe629=)
n.5079C>T
 gnomAD v4
14g.91278174G>CCA390612650CCDC88Cc.4806C>G (p.Phe1602Leu)
c.378C>G (p.Phe126Leu)
n.618C>G
c.1034C>G
n.778C>G
c.4698C>G (p.Phe1566Leu)
n.5081C>G
c.1887C>G (p.Phe629Leu)
n.5079C>G
14g.91278174G>TCA390612652CCDC88Cc.4806C>A (p.Phe1602Leu)
c.378C>A (p.Phe126Leu)
n.618C>A
c.1034C>A
n.778C>A
c.4698C>A (p.Phe1566Leu)
n.5081C>A
c.1887C>A (p.Phe629Leu)
n.5079C>A
14g.91278175A=CA2154908939CCDC88Cc.4805T= (p.Phe1602=)
c.377T= (p.Phe126=)
n.617T=
c.1033T=
n.777T=
c.4697T= (p.Phe1566=)
n.5080T=
c.1886T= (p.Phe629=)
n.5078T=
14g.91278175A>CCA390612654CCDC88Cc.4805T>G (p.Phe1602Cys)
c.377T>G (p.Phe126Cys)
n.617T>G
c.1033T>G
n.777T>G
c.4697T>G (p.Phe1566Cys)
n.5080T>G
c.1886T>G (p.Phe629Cys)
n.5078T>G
14g.91278175A>GCA390612656CCDC88Cc.4805T>C (p.Phe1602Ser)
c.377T>C (p.Phe126Ser)
n.617T>C
c.1033T>C
n.777T>C
c.4697T>C (p.Phe1566Ser)
n.5080T>C
c.1886T>C (p.Phe629Ser)
n.5078T>C
14g.91278175A>TCA390612658CCDC88Cc.4805T>A (p.Phe1602Tyr)
c.377T>A (p.Phe126Tyr)
n.617T>A
c.1033T>A
n.777T>A
c.4697T>A (p.Phe1566Tyr)
n.5080T>A
c.1886T>A (p.Phe629Tyr)
n.5078T>A
 dbSNP
14g.91278176A>CCA390612660CCDC88Cc.4804T>G (p.Phe1602Val)
c.376T>G (p.Phe126Val)
n.616T>G
c.1032T>G
n.776T>G
c.4696T>G (p.Phe1566Val)
n.5079T>G
c.1885T>G (p.Phe629Val)
n.5077T>G
14g.91278176A>GCA390612661CCDC88Cc.4804T>C (p.Phe1602Leu)
c.376T>C (p.Phe126Leu)
n.616T>C
c.1032T>C
n.776T>C
c.4696T>C (p.Phe1566Leu)
n.5079T>C
c.1885T>C (p.Phe629Leu)
n.5077T>C
14g.91278176A>TCA390612663CCDC88Cc.4804T>A (p.Phe1602Ile)
c.376T>A (p.Phe126Ile)
n.616T>A
c.1032T>A
n.776T>A
c.4696T>A (p.Phe1566Ile)
n.5079T>A
c.1885T>A (p.Phe629Ile)
n.5077T>A
14g.91278177G>ACA487540443CCDC88Cc.4803C>T (p.Ser1601=)
c.375C>T (p.Ser125=)
n.615C>T
c.1031C>T
n.775C>T
c.4695C>T (p.Ser1565=)
n.5078C>T
c.1884C>T (p.Ser628=)
n.5076C>T
 gnomAD v4
14g.91278177G>CCA390612665CCDC88Cc.4803C>G (p.Ser1601Arg)
c.375C>G (p.Ser125Arg)
n.615C>G
c.1031C>G
n.775C>G
c.4695C>G (p.Ser1565Arg)
n.5078C>G
c.1884C>G (p.Ser628Arg)
n.5076C>G
14g.91278177G>TCA390612666CCDC88Cc.4803C>A (p.Ser1601Arg)
c.375C>A (p.Ser125Arg)
n.615C>A
c.1031C>A
n.775C>A
c.4695C>A (p.Ser1565Arg)
n.5078C>A
c.1884C>A (p.Ser628Arg)
n.5076C>A
14g.91278178C>ACA390612673CCDC88Cc.4802G>T (p.Ser1601Ile)
c.374G>T (p.Ser125Ile)
n.614G>T
c.1030G>T
n.774G>T
c.4694G>T (p.Ser1565Ile)
n.5077G>T
c.1883G>T (p.Ser628Ile)
n.5075G>T
14g.91278178C>GCA390612670CCDC88Cc.4802G>C (p.Ser1601Thr)
c.374G>C (p.Ser125Thr)
n.614G>C
c.1030G>C
n.774G>C
c.4694G>C (p.Ser1565Thr)
n.5077G>C
c.1883G>C (p.Ser628Thr)
n.5075G>C
14g.91278178C>TCA390612669CCDC88Cc.4802G>A (p.Ser1601Asn)
c.374G>A (p.Ser125Asn)
n.614G>A
c.1030G>A
n.774G>A
c.4694G>A (p.Ser1565Asn)
n.5077G>A
c.1883G>A (p.Ser628Asn)
n.5075G>A
14g.91278179T>ACA390612675CCDC88Cc.4801A>T (p.Ser1601Cys)
c.373A>T (p.Ser125Cys)
n.613A>T
c.1029A>T
n.773A>T
c.4693A>T (p.Ser1565Cys)
n.5076A>T
c.1882A>T (p.Ser628Cys)
n.5074A>T
14g.91278179T>CCA390612677CCDC88Cc.4801A>G (p.Ser1601Gly)
c.373A>G (p.Ser125Gly)
n.613A>G
c.1029A>G
n.773A>G
c.4693A>G (p.Ser1565Gly)
n.5076A>G
c.1882A>G (p.Ser628Gly)
n.5074A>G
 gnomAD v4
14g.91278179T>GCA390612679CCDC88Cc.4801A>C (p.Ser1601Arg)
c.373A>C (p.Ser125Arg)
n.613A>C
c.1029A>C
n.773A>C
c.4693A>C (p.Ser1565Arg)
n.5076A>C
c.1882A>C (p.Ser628Arg)
n.5074A>C
14g.91278180C>ACA390612681CCDC88Cc.4800G>T (p.Glu1600Asp)
c.372G>T (p.Glu124Asp)
n.612G>T
c.1028G>T
n.772G>T
c.4692G>T (p.Glu1564Asp)
n.5075G>T
c.1881G>T (p.Glu627Asp)
n.5073G>T
14g.91278180C>GCA390612683CCDC88Cc.4800G>C (p.Glu1600Asp)
c.372G>C (p.Glu124Asp)
n.612G>C
c.1028G>C
n.772G>C
c.4692G>C (p.Glu1564Asp)
n.5075G>C
c.1881G>C (p.Glu627Asp)
n.5073G>C
14g.91278180C>TCA487540450CCDC88Cc.4800G>A (p.Glu1600=)
c.372G>A (p.Glu124=)
n.612G>A
c.1028G>A
n.772G>A
c.4692G>A (p.Glu1564=)
n.5075G>A
c.1881G>A (p.Glu627=)
n.5073G>A
14g.91278181T>ACA390612685CCDC88Cc.4799A>T (p.Glu1600Val)
c.371A>T (p.Glu124Val)
n.611A>T
c.1027A>T
n.771A>T
c.4691A>T (p.Glu1564Val)
n.5074A>T
c.1880A>T (p.Glu627Val)
n.5072A>T
14g.91278181T>CCA390612687CCDC88Cc.4799A>G (p.Glu1600Gly)
c.371A>G (p.Glu124Gly)
n.611A>G
c.1027A>G
n.771A>G
c.4691A>G (p.Glu1564Gly)
n.5074A>G
c.1880A>G (p.Glu627Gly)
n.5072A>G
14g.91278181T>GCA390612689CCDC88Cc.4799A>C (p.Glu1600Ala)
c.371A>C (p.Glu124Ala)
n.611A>C
c.1027A>C
n.771A>C
c.4691A>C (p.Glu1564Ala)
n.5074A>C
c.1880A>C (p.Glu627Ala)
n.5072A>C
14g.91278182C>ACA390612691CCDC88Cc.4798G>T (p.Glu1600Ter)
c.370G>T (p.Glu124Ter)
n.610G>T
c.1026G>T
n.770G>T
c.4690G>T (p.Glu1564Ter)
n.5073G>T
c.1879G>T (p.Glu627Ter)
n.5071G>T
14g.91278182C=CA2154908940CCDC88Cc.4798G= (p.Glu1600=)
c.370G= (p.Glu124=)
n.610G=
c.1026G=
n.770G=
c.4690G= (p.Glu1564=)
n.5073G=
c.1879G= (p.Glu627=)
n.5071G=
14g.91278182C>GCA390612693CCDC88Cc.4798G>C (p.Glu1600Gln)
c.370G>C (p.Glu124Gln)
n.610G>C
c.1026G>C
n.770G>C
c.4690G>C (p.Glu1564Gln)
n.5073G>C
c.1879G>C (p.Glu627Gln)
n.5071G>C
14g.91278182C>TCA390612694CCDC88Cc.4798G>A (p.Glu1600Lys)
c.370G>A (p.Glu124Lys)
n.610G>A
c.1026G>A
n.770G>A
c.4690G>A (p.Glu1564Lys)
n.5073G>A
c.1879G>A (p.Glu627Lys)
n.5071G>A
 dbSNP gnomAD v2 gnomAD v4
14g.91278183A>CCA487540457CCDC88Cc.4797T>G (p.Ser1599=)
c.369T>G (p.Ser123=)
n.609T>G
c.1025T>G
n.769T>G
c.4689T>G (p.Ser1563=)
n.5072T>G
c.1878T>G (p.Ser626=)
n.5070T>G
14g.91278183A>GCA487540459CCDC88Cc.4797T>C (p.Ser1599=)
c.369T>C (p.Ser123=)
n.609T>C
c.1025T>C
n.769T>C
c.4689T>C (p.Ser1563=)
n.5072T>C
c.1878T>C (p.Ser626=)
n.5070T>C
 gnomAD v4
14g.91278183A>TCA487540461CCDC88Cc.4797T>A (p.Ser1599=)
c.369T>A (p.Ser123=)
n.609T>A
c.1025T>A
n.769T>A
c.4689T>A (p.Ser1563=)
n.5072T>A
c.1878T>A (p.Ser626=)
n.5070T>A
14g.91278184G>ACA390612697CCDC88Cc.4796C>T (p.Ser1599Phe)
c.368C>T (p.Ser123Phe)
n.608C>T
c.1024C>T
n.768C>T
c.4688C>T (p.Ser1563Phe)
n.5071C>T
c.1877C>T (p.Ser626Phe)
n.5069C>T
14g.91278184G>CCA390612699CCDC88Cc.4796C>G (p.Ser1599Cys)
c.368C>G (p.Ser123Cys)
n.608C>G
c.1024C>G
n.768C>G
c.4688C>G (p.Ser1563Cys)
n.5071C>G
c.1877C>G (p.Ser626Cys)
n.5069C>G
14g.91278184G>TCA390612696CCDC88Cc.4796C>A (p.Ser1599Tyr)
c.368C>A (p.Ser123Tyr)
n.608C>A
c.1024C>A
n.768C>A
c.4688C>A (p.Ser1563Tyr)
n.5071C>A
c.1877C>A (p.Ser626Tyr)
n.5069C>A
 gnomAD v4
14g.91278185A>CCA390612701CCDC88Cc.4795T>G (p.Ser1599Ala)
c.367T>G (p.Ser123Ala)
n.607T>G
c.1023T>G
n.767T>G
c.4687T>G (p.Ser1563Ala)
n.5070T>G
c.1876T>G (p.Ser626Ala)
n.5068T>G
14g.91278185A>GCA390612703CCDC88Cc.4795T>C (p.Ser1599Pro)
c.367T>C (p.Ser123Pro)
n.607T>C
c.1023T>C
n.767T>C
c.4687T>C (p.Ser1563Pro)
n.5070T>C
c.1876T>C (p.Ser626Pro)
n.5068T>C
14g.91278185A>TCA390612705CCDC88Cc.4795T>A (p.Ser1599Thr)
c.367T>A (p.Ser123Thr)
n.607T>A
c.1023T>A
n.767T>A
c.4687T>A (p.Ser1563Thr)
n.5070T>A
c.1876T>A (p.Ser626Thr)
n.5068T>A
14g.91278186C>ACA487540463CCDC88Cc.4794G>T (p.Arg1598=)
c.366G>T (p.Arg122=)
n.606G>T
c.1022G>T
n.766G>T
c.4686G>T (p.Arg1562=)
n.5069G>T
c.1875G>T (p.Arg625=)
n.5067G>T
 gnomAD v4
14g.91278186C>GCA487540464CCDC88Cc.4794G>C (p.Arg1598=)
c.366G>C (p.Arg122=)
n.606G>C
c.1022G>C
n.766G>C
c.4686G>C (p.Arg1562=)
n.5069G>C
c.1875G>C (p.Arg625=)
n.5067G>C
14g.91278186C>TCA487540465CCDC88Cc.4794G>A (p.Arg1598=)
c.366G>A (p.Arg122=)
n.606G>A
c.1022G>A
n.766G>A
c.4686G>A (p.Arg1562=)
n.5069G>A
c.1875G>A (p.Arg625=)
n.5067G>A
14g.91278187C>ACA390612708CCDC88Cc.4793G>T (p.Arg1598Leu)
c.365G>T (p.Arg122Leu)
n.605G>T
c.1021G>T
n.765G>T
c.4685G>T (p.Arg1562Leu)
n.5068G>T
c.1874G>T (p.Arg625Leu)
n.5066G>T
 dbSNP
14g.91278187C=CA2154908941CCDC88Cc.4793G= (p.Arg1598=)
c.365G= (p.Arg122=)
n.605G=
c.1021G=
n.765G=
c.4685G= (p.Arg1562=)
n.5068G=
c.1874G= (p.Arg625=)
n.5066G=
14g.91278187C>GCA390612709CCDC88Cc.4793G>C (p.Arg1598Pro)
c.365G>C (p.Arg122Pro)
n.605G>C
c.1021G>C
n.765G>C
c.4685G>C (p.Arg1562Pro)
n.5068G>C
c.1874G>C (p.Arg625Pro)
n.5066G>C
 gnomAD v4
14g.91278187C>TCA7308827CCDC88Cc.4793G>A (p.Arg1598Gln)
c.365G>A (p.Arg122Gln)
n.605G>A
c.1021G>A
n.765G>A
c.4685G>A (p.Arg1562Gln)
n.5068G>A
c.1874G>A (p.Arg625Gln)
n.5066G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91278188G>ACA390612711CCDC88Cc.4792C>T (p.Arg1598Trp)
c.364C>T (p.Arg122Trp)
n.604C>T
c.1020C>T
n.764C>T
c.4684C>T (p.Arg1562Trp)
n.5067C>T
c.1873C>T (p.Arg625Trp)
n.5065C>T
 gnomAD v4 COSMIC COSMIC COSMIC
14g.91278188G>CCA7308828CCDC88Cc.4792C>G (p.Arg1598Gly)
c.364C>G (p.Arg122Gly)
n.604C>G
c.1020C>G
n.764C>G
c.4684C>G (p.Arg1562Gly)
n.5067C>G
c.1873C>G (p.Arg625Gly)
n.5065C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91278188G=CA2154908942CCDC88Cc.4792C= (p.Arg1598=)
c.364C= (p.Arg122=)
n.604C=
c.1020C=
n.764C=
c.4684C= (p.Arg1562=)
n.5067C=
c.1873C= (p.Arg625=)
n.5065C=
14g.91278188G>TCA487540467CCDC88Cc.4792C>A (p.Arg1598=)
c.364C>A (p.Arg122=)
n.604C>A
c.1020C>A
n.764C>A
c.4684C>A (p.Arg1562=)
n.5067C>A
c.1873C>A (p.Arg625=)
n.5065C>A
14g.91278189G>ACA487540470CCDC88Cc.4791C>T (p.Gly1597=)
c.363C>T (p.Gly121=)
n.603C>T
c.1019C>T
n.763C>T
c.4683C>T (p.Gly1561=)
n.5066C>T
c.1872C>T (p.Gly624=)
n.5064C>T
14g.91278189G>CCA487540473CCDC88Cc.4791C>G (p.Gly1597=)
c.363C>G (p.Gly121=)
n.603C>G
c.1019C>G
n.763C>G
c.4683C>G (p.Gly1561=)
n.5066C>G
c.1872C>G (p.Gly624=)
n.5064C>G
14g.91278189G>TCA487540474CCDC88Cc.4791C>A (p.Gly1597=)
c.363C>A (p.Gly121=)
n.603C>A
c.1019C>A
n.763C>A
c.4683C>A (p.Gly1561=)
n.5066C>A
c.1872C>A (p.Gly624=)
n.5064C>A
14g.91278190C>ACA390612714CCDC88Cc.4790G>T (p.Gly1597Val)
c.362G>T (p.Gly121Val)
n.602G>T
c.1018G>T
n.762G>T
c.4682G>T (p.Gly1561Val)
n.5065G>T
c.1871G>T (p.Gly624Val)
n.5063G>T
14g.91278190C=CA2154908943CCDC88Cc.4790G= (p.Gly1597=)
c.362G= (p.Gly121=)
n.602G=
c.1018G=
n.762G=
c.4682G= (p.Gly1561=)
n.5065G=
c.1871G= (p.Gly624=)
n.5063G=
14g.91278190C>GCA7308829CCDC88Cc.4790G>C (p.Gly1597Ala)
c.362G>C (p.Gly121Ala)
n.602G>C
c.1018G>C
n.762G>C
c.4682G>C (p.Gly1561Ala)
n.5065G>C
c.1871G>C (p.Gly624Ala)
n.5063G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91278190C>TCA390612716CCDC88Cc.4790G>A (p.Gly1597Asp)
c.362G>A (p.Gly121Asp)
n.602G>A
c.1018G>A
n.762G>A
c.4682G>A (p.Gly1561Asp)
n.5065G>A
c.1871G>A (p.Gly624Asp)
n.5063G>A
14g.91278191C>ACA390612720CCDC88Cc.4789G>T (p.Gly1597Cys)
c.361G>T (p.Gly121Cys)
n.601G>T
c.1017G>T
n.761G>T
c.4681G>T (p.Gly1561Cys)
n.5064G>T
c.1870G>T (p.Gly624Cys)
n.5062G>T
14g.91278191C>GCA390612721CCDC88Cc.4789G>C (p.Gly1597Arg)
c.361G>C (p.Gly121Arg)
n.601G>C
c.1017G>C
n.761G>C
c.4681G>C (p.Gly1561Arg)
n.5064G>C
c.1870G>C (p.Gly624Arg)
n.5062G>C
14g.91278191C>TCA390612718CCDC88Cc.4789G>A (p.Gly1597Ser)
c.361G>A (p.Gly121Ser)
n.601G>A
c.1017G>A
n.761G>A
c.4681G>A (p.Gly1561Ser)
n.5064G>A
c.1870G>A (p.Gly624Ser)
n.5062G>A
14g.91278192A=CA2154908944CCDC88Cc.4788T= (p.His1596=)
c.360T= (p.His120=)
n.600T=
c.1016T=
n.760T=
c.4680T= (p.His1560=)
n.5063T=
c.1869T= (p.His623=)
n.5061T=
14g.91278192A>CCA390612723CCDC88Cc.4788T>G (p.His1596Gln)
c.360T>G (p.His120Gln)
n.600T>G
c.1016T>G
n.760T>G
c.4680T>G (p.His1560Gln)
n.5063T>G
c.1869T>G (p.His623Gln)
n.5061T>G
14g.91278192A>GCA487540476CCDC88Cc.4788T>C (p.His1596=)
c.360T>C (p.His120=)
n.600T>C
c.1016T>C
n.760T>C
c.4680T>C (p.His1560=)
n.5063T>C
c.1869T>C (p.His623=)
n.5061T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.91278192A>TCA390612725CCDC88Cc.4788T>A (p.His1596Gln)
c.360T>A (p.His120Gln)
n.600T>A
c.1016T>A
n.760T>A
c.4680T>A (p.His1560Gln)
n.5063T>A
c.1869T>A (p.His623Gln)
n.5061T>A
14g.91278193T>ACA390612727CCDC88Cc.4787A>T (p.His1596Leu)
c.359A>T (p.His120Leu)
n.599A>T
c.1015A>T
n.759A>T
c.4679A>T (p.His1560Leu)
n.5062A>T
c.1868A>T (p.His623Leu)
n.5060A>T
14g.91278193T>CCA390612729CCDC88Cc.4787A>G (p.His1596Arg)
c.359A>G (p.His120Arg)
n.599A>G
c.1015A>G
n.759A>G
c.4679A>G (p.His1560Arg)
n.5062A>G
c.1868A>G (p.His623Arg)
n.5060A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91278193T>GCA390612731CCDC88Cc.4787A>C (p.His1596Pro)
c.359A>C (p.His120Pro)
n.599A>C
c.1015A>C
n.759A>C
c.4679A>C (p.His1560Pro)
n.5062A>C
c.1868A>C (p.His623Pro)
n.5060A>C
 gnomAD v4
14g.91278193T=CA2154908945CCDC88Cc.4787A= (p.His1596=)
c.359A= (p.His120=)
n.599A=
c.1015A=
n.759A=
c.4679A= (p.His1560=)
n.5062A=
c.1868A= (p.His623=)
n.5060A=
14g.91278194G>ACA390612737CCDC88Cc.4786C>T (p.His1596Tyr)
c.358C>T (p.His120Tyr)
n.598C>T
c.1014C>T
n.758C>T
c.4678C>T (p.His1560Tyr)
n.5061C>T
c.1867C>T (p.His623Tyr)
n.5059C>T
14g.91278194G>CCA390612733CCDC88Cc.4786C>G (p.His1596Asp)
c.358C>G (p.His120Asp)
n.598C>G
c.1014C>G
n.758C>G
c.4678C>G (p.His1560Asp)
n.5061C>G
c.1867C>G (p.His623Asp)
n.5059C>G
14g.91278194G>TCA390612735CCDC88Cc.4786C>A (p.His1596Asn)
c.358C>A (p.His120Asn)
n.598C>A
c.1014C>A
n.758C>A
c.4678C>A (p.His1560Asn)
n.5061C>A
c.1867C>A (p.His623Asn)
n.5059C>A
14g.91278195G>ACA487540481CCDC88Cc.4785C>T (p.Leu1595=)
c.357C>T (p.Leu119=)
n.597C>T
c.1013C>T
n.757C>T
c.4677C>T (p.Leu1559=)
n.5060C>T
c.1866C>T (p.Leu622=)
n.5058C>T
 COSMIC COSMIC COSMIC
14g.91278195G>CCA487540483CCDC88Cc.4785C>G (p.Leu1595=)
c.357C>G (p.Leu119=)
n.597C>G
c.1013C>G
n.757C>G
c.4677C>G (p.Leu1559=)
n.5060C>G
c.1866C>G (p.Leu622=)
n.5058C>G
14g.91278195G>TCA487540484CCDC88Cc.4785C>A (p.Leu1595=)
c.357C>A (p.Leu119=)
n.597C>A
c.1013C>A
n.757C>A
c.4677C>A (p.Leu1559=)
n.5060C>A
c.1866C>A (p.Leu622=)
n.5058C>A
14g.91278196A=CA2154908946CCDC88Cc.4784T= (p.Leu1595=)
c.356T= (p.Leu119=)
n.596T=
c.1012T=
n.756T=
c.4676T= (p.Leu1559=)
n.5059T=
c.1865T= (p.Leu622=)
n.5057T=
14g.91278196A>CCA390612739CCDC88Cc.4784T>G (p.Leu1595Arg)
c.356T>G (p.Leu119Arg)
n.596T>G
c.1012T>G
n.756T>G
c.4676T>G (p.Leu1559Arg)
n.5059T>G
c.1865T>G (p.Leu622Arg)
n.5057T>G
 dbSNP
14g.91278196A>GCA390612741CCDC88Cc.4784T>C (p.Leu1595Pro)
c.356T>C (p.Leu119Pro)
n.596T>C
c.1012T>C
n.756T>C
c.4676T>C (p.Leu1559Pro)
n.5059T>C
c.1865T>C (p.Leu622Pro)
n.5057T>C
 dbSNP
14g.91278196A>TCA390612742CCDC88Cc.4784T>A (p.Leu1595His)
c.356T>A (p.Leu119His)
n.596T>A
c.1012T>A
n.756T>A
c.4676T>A (p.Leu1559His)
n.5059T>A
c.1865T>A (p.Leu622His)
n.5057T>A
14g.91278197G>ACA7308830CCDC88Cc.4783C>T (p.Leu1595Phe)
c.355C>T (p.Leu119Phe)
n.595C>T
c.1011C>T
n.755C>T
c.4675C>T (p.Leu1559Phe)
n.5058C>T
c.1864C>T (p.Leu622Phe)
n.5056C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91278197G>CCA390612745CCDC88Cc.4783C>G (p.Leu1595Val)
c.355C>G (p.Leu119Val)
n.595C>G
c.1011C>G
n.755C>G
c.4675C>G (p.Leu1559Val)
n.5058C>G
c.1864C>G (p.Leu622Val)
n.5056C>G
14g.91278197G=CA2154908947CCDC88Cc.4783C= (p.Leu1595=)
c.355C= (p.Leu119=)
n.595C=
c.1011C=
n.755C=
c.4675C= (p.Leu1559=)
n.5058C=
c.1864C= (p.Leu622=)
n.5056C=
14g.91278197G>TCA390612747CCDC88Cc.4783C>A (p.Leu1595Ile)
c.355C>A (p.Leu119Ile)
n.595C>A
c.1011C>A
n.755C>A
c.4675C>A (p.Leu1559Ile)
n.5058C>A
c.1864C>A (p.Leu622Ile)
n.5056C>A
 COSMIC COSMIC COSMIC
14g.91278198C>ACA390612751CCDC88Cc.4782G>T (p.Gln1594His)
c.354G>T (p.Gln118His)
n.594G>T
c.1010G>T
n.754G>T
c.4674G>T (p.Gln1558His)
n.5057G>T
c.1863G>T (p.Gln621His)
n.5055G>T
 gnomAD v4
14g.91278198C>GCA390612749CCDC88Cc.4782G>C (p.Gln1594His)
c.354G>C (p.Gln118His)
n.594G>C
c.1010G>C
n.754G>C
c.4674G>C (p.Gln1558His)
n.5057G>C
c.1863G>C (p.Gln621His)
n.5055G>C
14g.91278198C>TCA487540493CCDC88Cc.4782G>A (p.Gln1594=)
c.354G>A (p.Gln118=)
n.594G>A
c.1010G>A
n.754G>A
c.4674G>A (p.Gln1558=)
n.5057G>A
c.1863G>A (p.Gln621=)
n.5055G>A
14g.91278199T>ACA390612753CCDC88Cc.4781A>T (p.Gln1594Leu)
c.353A>T (p.Gln118Leu)
n.593A>T
c.1009A>T
n.753A>T
c.4673A>T (p.Gln1558Leu)
n.5056A>T
c.1862A>T (p.Gln621Leu)
n.5054A>T
14g.91278199T>CCA390612757CCDC88Cc.4781A>G (p.Gln1594Arg)
c.353A>G (p.Gln118Arg)
n.593A>G
c.1009A>G
n.753A>G
c.4673A>G (p.Gln1558Arg)
n.5056A>G
c.1862A>G (p.Gln621Arg)
n.5054A>G
14g.91278199T>GCA390612755CCDC88Cc.4781A>C (p.Gln1594Pro)
c.353A>C (p.Gln118Pro)
n.593A>C
c.1009A>C
n.753A>C
c.4673A>C (p.Gln1558Pro)
n.5056A>C
c.1862A>C (p.Gln621Pro)
n.5054A>C
14g.91278200G>ACA390612758CCDC88Cc.4780C>T (p.Gln1594Ter)
c.352C>T (p.Gln118Ter)
n.592C>T
c.1008C>T
n.752C>T
c.4672C>T (p.Gln1558Ter)
n.5055C>T
c.1861C>T (p.Gln621Ter)
n.5053C>T
 gnomAD v4
14g.91278200G>CCA390612761CCDC88Cc.4780C>G (p.Gln1594Glu)
c.352C>G (p.Gln118Glu)
n.592C>G
c.1008C>G
n.752C>G
c.4672C>G (p.Gln1558Glu)
n.5055C>G
c.1861C>G (p.Gln621Glu)
n.5053C>G
14g.91278200G>TCA390612760CCDC88Cc.4780C>A (p.Gln1594Lys)
c.352C>A (p.Gln118Lys)
n.592C>A
c.1008C>A
n.752C>A
c.4672C>A (p.Gln1558Lys)
n.5055C>A
c.1861C>A (p.Gln621Lys)
n.5053C>A
14g.91278201C>ACA390612763CCDC88Cc.4779G>T (p.Glu1593Asp)
c.351G>T (p.Glu117Asp)
n.591G>T
c.1007G>T
n.751G>T
c.4671G>T (p.Glu1557Asp)
n.5054G>T
c.1860G>T (p.Glu620Asp)
n.5052G>T
14g.91278201C>GCA390612765CCDC88Cc.4779G>C (p.Glu1593Asp)
c.351G>C (p.Glu117Asp)
n.591G>C
c.1007G>C
n.751G>C
c.4671G>C (p.Glu1557Asp)
n.5054G>C
c.1860G>C (p.Glu620Asp)
n.5052G>C
14g.91278201C>TCA487540499CCDC88Cc.4779G>A (p.Glu1593=)
c.351G>A (p.Glu117=)
n.591G>A
c.1007G>A
n.751G>A
c.4671G>A (p.Glu1557=)
n.5054G>A
c.1860G>A (p.Glu620=)
n.5052G>A
14g.91278202T>ACA390612767CCDC88Cc.4778A>T (p.Glu1593Val)
c.350A>T (p.Glu117Val)
n.590A>T
c.1006A>T
n.750A>T
c.4670A>T (p.Glu1557Val)
n.5053A>T
c.1859A>T (p.Glu620Val)
n.5051A>T
14g.91278202T>CCA390612769CCDC88Cc.4778A>G (p.Glu1593Gly)
c.350A>G (p.Glu117Gly)
n.590A>G
c.1006A>G
n.750A>G
c.4670A>G (p.Glu1557Gly)
n.5053A>G
c.1859A>G (p.Glu620Gly)
n.5051A>G
14g.91278202T>GCA390612771CCDC88Cc.4778A>C (p.Glu1593Ala)
c.350A>C (p.Glu117Ala)
n.590A>C
c.1006A>C
n.750A>C
c.4670A>C (p.Glu1557Ala)
n.5053A>C
c.1859A>C (p.Glu620Ala)
n.5051A>C
14g.91278203C>ACA390612773CCDC88Cc.4777G>T (p.Glu1593Ter)
c.349G>T (p.Glu117Ter)
n.589G>T
c.1005G>T
n.749G>T
c.4669G>T (p.Glu1557Ter)
n.5052G>T
c.1858G>T (p.Glu620Ter)
n.5050G>T
14g.91278203C=CA2154908948CCDC88Cc.4777G= (p.Glu1593=)
c.349G= (p.Glu117=)
n.589G=
c.1005G=
n.749G=
c.4669G= (p.Glu1557=)
n.5052G=
c.1858G= (p.Glu620=)
n.5050G=
14g.91278203C>GCA390612775CCDC88Cc.4777G>C (p.Glu1593Gln)
c.349G>C (p.Glu117Gln)
n.589G>C
c.1005G>C
n.749G>C
c.4669G>C (p.Glu1557Gln)
n.5052G>C
c.1858G>C (p.Glu620Gln)
n.5050G>C
14g.91278203C>TCA7308831CCDC88Cc.4777G>A (p.Glu1593Lys)
c.349G>A (p.Glu117Lys)
n.589G>A
c.1005G>A
n.749G>A
c.4669G>A (p.Glu1557Lys)
n.5052G>A
c.1858G>A (p.Glu620Lys)
n.5050G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91278204G>ACA265524220CCDC88Cc.4776C>T (p.Ser1592=)
c.348C>T (p.Ser116=)
n.588C>T
c.1004C>T
n.748C>T
c.4668C>T (p.Ser1556=)
n.5051C>T
c.1857C>T (p.Ser619=)
n.5049C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91278204G>CCA487540502CCDC88Cc.4776C>G (p.Ser1592=)
c.348C>G (p.Ser116=)
n.588C>G
c.1004C>G
n.748C>G
c.4668C>G (p.Ser1556=)
n.5051C>G
c.1857C>G (p.Ser619=)
n.5049C>G
14g.91278204G=CA2154908949CCDC88Cc.4776C= (p.Ser1592=)
c.348C= (p.Ser116=)
n.588C=
c.1004C=
n.748C=
c.4668C= (p.Ser1556=)
n.5051C=
c.1857C= (p.Ser619=)
n.5049C=
14g.91278204G>TCA265524222CCDC88Cc.4776C>A (p.Ser1592=)
c.348C>A (p.Ser116=)
n.588C>A
c.1004C>A
n.748C>A
c.4668C>A (p.Ser1556=)
n.5051C>A
c.1857C>A (p.Ser619=)
n.5049C>A
 dbSNP

Number of alleles fetched