Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.153592628G>ACA415087953CCNQc.535C>T (p.His179Tyr)
c.193+1919C>T
c.409C>T (p.His137Tyr)
c.277+3376C>T
c.356C>T
c.*411C>T (n.*411C>T)
c.*700C>T (n.*700C>T)
c.505C>T (p.His169Tyr)
n.2440C>T
 dbSNP
Xg.153592628G>CCA415087955CCNQc.535C>G (p.His179Asp)
c.193+1919C>G
c.409C>G (p.His137Asp)
c.277+3376C>G
c.356C>G
c.*411C>G (n.*411C>G)
c.*700C>G (n.*700C>G)
c.505C>G (p.His169Asp)
n.2440C>G
Xg.153592628G=CA2466399762CCNQc.535C= (p.His179=)
c.193+1919C=
c.409C= (p.His137=)
c.277+3376C=
c.356C=
c.*411C= (n.*411C=)
c.*700C= (n.*700C=)
c.505C= (p.His169=)
n.2440C=
Xg.153592628G>TCA415087959CCNQc.535C>A (p.His179Asn)
c.193+1919C>A
c.409C>A (p.His137Asn)
c.277+3376C>A
c.356C>A
c.*411C>A (n.*411C>A)
c.*700C>A (n.*700C>A)
c.505C>A (p.His169Asn)
n.2440C>A
Xg.153592629G>ACA10548391CCNQc.534C>T (p.Tyr178=)
c.193+1918C>T
c.408C>T (p.Tyr136=)
c.277+3375C>T
c.355C>T
c.*410C>T (n.*410C>T)
c.*699C>T (n.*699C>T)
c.504C>T (p.Tyr168=)
n.2439C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153592629G>CCA415087965CCNQc.534C>G (p.Tyr178Ter)
c.193+1918C>G
c.408C>G (p.Tyr136Ter)
c.277+3375C>G
c.355C>G
c.*410C>G (n.*410C>G)
c.*699C>G (n.*699C>G)
c.504C>G (p.Tyr168Ter)
n.2439C>G
Xg.153592629G=CA2466399763CCNQc.534C= (p.Tyr178=)
c.193+1918C=
c.408C= (p.Tyr136=)
c.277+3375C=
c.355C=
c.*410C= (n.*410C=)
c.*699C= (n.*699C=)
c.504C= (p.Tyr168=)
n.2439C=
Xg.153592629G>TCA415087968CCNQc.534C>A (p.Tyr178Ter)
c.193+1918C>A
c.408C>A (p.Tyr136Ter)
c.277+3375C>A
c.355C>A
c.*410C>A (n.*410C>A)
c.*699C>A (n.*699C>A)
c.504C>A (p.Tyr168Ter)
n.2439C>A
Xg.153592630T>ACA415087970CCNQc.533A>T (p.Tyr178Phe)
c.193+1917A>T
c.407A>T (p.Tyr136Phe)
c.277+3374A>T
c.354A>T
c.*409A>T (n.*409A>T)
c.*698A>T (n.*698A>T)
c.503A>T (p.Tyr168Phe)
n.2438A>T
Xg.153592630T>CCA415087972CCNQc.533A>G (p.Tyr178Cys)
c.193+1917A>G
c.407A>G (p.Tyr136Cys)
c.277+3374A>G
c.354A>G
c.*409A>G (n.*409A>G)
c.*698A>G (n.*698A>G)
c.503A>G (p.Tyr168Cys)
n.2438A>G
Xg.153592630T>GCA415087974CCNQc.533A>C (p.Tyr178Ser)
c.193+1917A>C
c.407A>C (p.Tyr136Ser)
c.277+3374A>C
c.354A>C
c.*409A>C (n.*409A>C)
c.*698A>C (n.*698A>C)
c.503A>C (p.Tyr168Ser)
n.2438A>C
Xg.153592631A>CCA415087976CCNQc.532T>G (p.Tyr178Asp)
c.193+1916T>G
c.406T>G (p.Tyr136Asp)
c.277+3373T>G
c.353T>G
c.*408T>G (n.*408T>G)
c.*697T>G (n.*697T>G)
c.502T>G (p.Tyr168Asp)
n.2437T>G
Xg.153592631A>GCA415087980CCNQc.532T>C (p.Tyr178His)
c.193+1916T>C
c.406T>C (p.Tyr136His)
c.277+3373T>C
c.353T>C
c.*408T>C (n.*408T>C)
c.*697T>C (n.*697T>C)
c.502T>C (p.Tyr168His)
n.2437T>C
Xg.153592631A>TCA415087978CCNQc.532T>A (p.Tyr178Asn)
c.193+1916T>A
c.406T>A (p.Tyr136Asn)
c.277+3373T>A
c.353T>A
c.*408T>A (n.*408T>A)
c.*697T>A (n.*697T>A)
c.502T>A (p.Tyr168Asn)
n.2437T>A
Xg.153592632G>ACA519214077CCNQc.531C>T (p.Ser177=)
c.193+1915C>T
c.405C>T (p.Ser135=)
c.277+3372C>T
c.352C>T
c.*407C>T (n.*407C>T)
c.*696C>T (n.*696C>T)
c.501C>T (p.Ser167=)
n.2436C>T
Xg.153592632G>CCA415087981CCNQc.531C>G (p.Ser177Arg)
c.193+1915C>G
c.405C>G (p.Ser135Arg)
c.277+3372C>G
c.352C>G
c.*407C>G (n.*407C>G)
c.*696C>G (n.*696C>G)
c.501C>G (p.Ser167Arg)
n.2436C>G
Xg.153592632G>TCA415087983CCNQc.531C>A (p.Ser177Arg)
c.193+1915C>A
c.405C>A (p.Ser135Arg)
c.277+3372C>A
c.352C>A
c.*407C>A (n.*407C>A)
c.*696C>A (n.*696C>A)
c.501C>A (p.Ser167Arg)
n.2436C>A
Xg.153592633C>ACA415087985CCNQc.530G>T (p.Ser177Ile)
c.193+1914G>T
c.404G>T (p.Ser135Ile)
c.277+3371G>T
c.351G>T
c.*406G>T (n.*406G>T)
c.*695G>T (n.*695G>T)
c.500G>T (p.Ser167Ile)
n.2435G>T
Xg.153592633C=CA2466399764CCNQc.530G= (p.Ser177=)
c.193+1914G=
c.404G= (p.Ser135=)
c.277+3371G=
c.351G=
c.*406G= (n.*406G=)
c.*695G= (n.*695G=)
c.500G= (p.Ser167=)
n.2435G=
Xg.153592633C>GCA10548392CCNQc.530G>C (p.Ser177Thr)
c.193+1914G>C
c.404G>C (p.Ser135Thr)
c.277+3371G>C
c.351G>C
c.*406G>C (n.*406G>C)
c.*695G>C (n.*695G>C)
c.500G>C (p.Ser167Thr)
n.2435G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153592633C>TCA415087988CCNQc.530G>A (p.Ser177Asn)
c.193+1914G>A
c.404G>A (p.Ser135Asn)
c.277+3371G>A
c.351G>A
c.*406G>A (n.*406G>A)
c.*695G>A (n.*695G>A)
c.500G>A (p.Ser167Asn)
n.2435G>A
Xg.153592634T>ACA415087990CCNQc.529A>T (p.Ser177Cys)
c.193+1913A>T
c.403A>T (p.Ser135Cys)
c.277+3370A>T
c.350A>T
c.*405A>T (n.*405A>T)
c.*694A>T (n.*694A>T)
c.499A>T (p.Ser167Cys)
n.2434A>T
Xg.153592634T>CCA415087992CCNQc.529A>G (p.Ser177Gly)
c.193+1913A>G
c.403A>G (p.Ser135Gly)
c.277+3370A>G
c.350A>G
c.*405A>G (n.*405A>G)
c.*694A>G (n.*694A>G)
c.499A>G (p.Ser167Gly)
n.2434A>G
 gnomAD v4
Xg.153592634T>GCA415087994CCNQc.529A>C (p.Ser177Arg)
c.193+1913A>C
c.403A>C (p.Ser135Arg)
c.277+3370A>C
c.350A>C
c.*405A>C (n.*405A>C)
c.*694A>C (n.*694A>C)
c.499A>C (p.Ser167Arg)
n.2434A>C
Xg.153592635G>ACA519214090CCNQc.528C>T (p.Asp176=)
c.193+1912C>T
c.402C>T (p.Asp134=)
c.277+3369C>T
c.349C>T
c.*404C>T (n.*404C>T)
c.*693C>T (n.*693C>T)
c.498C>T (p.Asp166=)
n.2433C>T
Xg.153592635G>CCA415087995CCNQc.528C>G (p.Asp176Glu)
c.193+1912C>G
c.402C>G (p.Asp134Glu)
c.277+3369C>G
c.349C>G
c.*404C>G (n.*404C>G)
c.*693C>G (n.*693C>G)
c.498C>G (p.Asp166Glu)
n.2433C>G
Xg.153592635G>TCA415087997CCNQc.528C>A (p.Asp176Glu)
c.193+1912C>A
c.402C>A (p.Asp134Glu)
c.277+3369C>A
c.349C>A
c.*404C>A (n.*404C>A)
c.*693C>A (n.*693C>A)
c.498C>A (p.Asp166Glu)
n.2433C>A
Xg.153592636T>ACA415087999CCNQc.527A>T (p.Asp176Val)
c.193+1911A>T
c.401A>T (p.Asp134Val)
c.277+3368A>T
c.348A>T
c.*403A>T (n.*403A>T)
c.*692A>T (n.*692A>T)
c.497A>T (p.Asp166Val)
n.2432A>T
Xg.153592636T>CCA415088001CCNQc.527A>G (p.Asp176Gly)
c.193+1911A>G
c.401A>G (p.Asp134Gly)
c.277+3368A>G
c.348A>G
c.*403A>G (n.*403A>G)
c.*692A>G (n.*692A>G)
c.497A>G (p.Asp166Gly)
n.2432A>G
Xg.153592636T>GCA415088003CCNQc.527A>C (p.Asp176Ala)
c.193+1911A>C
c.401A>C (p.Asp134Ala)
c.277+3368A>C
c.348A>C
c.*403A>C (n.*403A>C)
c.*692A>C (n.*692A>C)
c.497A>C (p.Asp166Ala)
n.2432A>C
Xg.153592637C>ACA415088010CCNQc.526G>T (p.Asp176Tyr)
c.193+1910G>T
c.400G>T (p.Asp134Tyr)
c.277+3367G>T
c.347G>T
c.*402G>T (n.*402G>T)
c.*691G>T (n.*691G>T)
c.496G>T (p.Asp166Tyr)
n.2431G>T
 COSMIC
Xg.153592637C>GCA415088006CCNQc.526G>C (p.Asp176His)
c.193+1910G>C
c.400G>C (p.Asp134His)
c.277+3367G>C
c.347G>C
c.*402G>C (n.*402G>C)
c.*691G>C (n.*691G>C)
c.496G>C (p.Asp166His)
n.2431G>C
Xg.153592637C>TCA415088008CCNQc.526G>A (p.Asp176Asn)
c.193+1910G>A
c.400G>A (p.Asp134Asn)
c.277+3367G>A
c.347G>A
c.*402G>A (n.*402G>A)
c.*691G>A (n.*691G>A)
c.496G>A (p.Asp166Asn)
n.2431G>A
Xg.153592638C>ACA519214106CCNQc.525G>T (p.Arg175=)
c.193+1909G>T
c.399G>T (p.Arg133=)
c.277+3366G>T
c.346G>T
c.*401G>T (n.*401G>T)
c.*690G>T (n.*690G>T)
c.495G>T (p.Arg165=)
n.2430G>T
Xg.153592638C=CA2466399765CCNQc.525G= (p.Arg175=)
c.193+1909G=
c.399G= (p.Arg133=)
c.277+3366G=
c.346G=
c.*401G= (n.*401G=)
c.*690G= (n.*690G=)
c.495G= (p.Arg165=)
n.2430G=
Xg.153592638C>GCA519214108CCNQc.525G>C (p.Arg175=)
c.193+1909G>C
c.399G>C (p.Arg133=)
c.277+3366G>C
c.346G>C
c.*401G>C (n.*401G>C)
c.*690G>C (n.*690G>C)
c.495G>C (p.Arg165=)
n.2430G>C
Xg.153592638C>TCA10548393CCNQc.525G>A (p.Arg175=)
c.193+1909G>A
c.399G>A (p.Arg133=)
c.277+3366G>A
c.346G>A
c.*401G>A (n.*401G>A)
c.*690G>A (n.*690G>A)
c.495G>A (p.Arg165=)
n.2430G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153592639C>ACA415088014CCNQc.524G>T (p.Arg175Leu)
c.193+1908G>T
c.398G>T (p.Arg133Leu)
c.277+3365G>T
c.345G>T
c.*400G>T (n.*400G>T)
c.*689G>T (n.*689G>T)
c.494G>T (p.Arg165Leu)
n.2429G>T
Xg.153592639C=CA2466399766CCNQc.524G= (p.Arg175=)
c.193+1908G=
c.398G= (p.Arg133=)
c.277+3365G=
c.345G=
c.*400G= (n.*400G=)
c.*689G= (n.*689G=)
c.494G= (p.Arg165=)
n.2429G=
Xg.153592639C>GCA415088016CCNQc.524G>C (p.Arg175Pro)
c.193+1908G>C
c.398G>C (p.Arg133Pro)
c.277+3365G>C
c.345G>C
c.*400G>C (n.*400G>C)
c.*689G>C (n.*689G>C)
c.494G>C (p.Arg165Pro)
n.2429G>C
Xg.153592639C>TCA337225336CCNQc.524G>A (p.Arg175Gln)
c.193+1908G>A
c.398G>A (p.Arg133Gln)
c.277+3365G>A
c.345G>A
c.*400G>A (n.*400G>A)
c.*689G>A (n.*689G>A)
c.494G>A (p.Arg165Gln)
n.2429G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.153592640G>ACA10548394CCNQc.523C>T (p.Arg175Trp)
c.193+1907C>T
c.397C>T (p.Arg133Trp)
c.277+3364C>T
c.344C>T
c.*399C>T (n.*399C>T)
c.*688C>T (n.*688C>T)
c.493C>T (p.Arg165Trp)
n.2428C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153592640G>CCA415088020CCNQc.523C>G (p.Arg175Gly)
c.193+1907C>G
c.397C>G (p.Arg133Gly)
c.277+3364C>G
c.344C>G
c.*399C>G (n.*399C>G)
c.*688C>G (n.*688C>G)
c.493C>G (p.Arg165Gly)
n.2428C>G
Xg.153592640G=CA2466399767CCNQc.523C= (p.Arg175=)
c.193+1907C=
c.397C= (p.Arg133=)
c.277+3364C=
c.344C=
c.*399C= (n.*399C=)
c.*688C= (n.*688C=)
c.493C= (p.Arg165=)
n.2428C=
Xg.153592640G>TCA519214120CCNQc.523C>A (p.Arg175=)
c.193+1907C>A
c.397C>A (p.Arg133=)
c.277+3364C>A
c.344C>A
c.*399C>A (n.*399C>A)
c.*688C>A (n.*688C>A)
c.493C>A (p.Arg165=)
n.2428C>A
Xg.153592641C>ACA519214127CCNQc.522G>T (p.Leu174=)
c.193+1906G>T
c.396G>T (p.Leu132=)
c.277+3363G>T
c.343G>T
c.*398G>T (n.*398G>T)
c.*687G>T (n.*687G>T)
c.492G>T (p.Leu164=)
n.2427G>T
Xg.153592641C>GCA519214129CCNQc.522G>C (p.Leu174=)
c.193+1906G>C
c.396G>C (p.Leu132=)
c.277+3363G>C
c.343G>C
c.*398G>C (n.*398G>C)
c.*687G>C (n.*687G>C)
c.492G>C (p.Leu164=)
n.2427G>C
Xg.153592641C>TCA519214131CCNQc.522G>A (p.Leu174=)
c.193+1906G>A
c.396G>A (p.Leu132=)
c.277+3363G>A
c.343G>A
c.*398G>A (n.*398G>A)
c.*687G>A (n.*687G>A)
c.492G>A (p.Leu164=)
n.2427G>A
Xg.153592642A>CCA415088022CCNQc.521T>G (p.Leu174Arg)
c.193+1905T>G
c.395T>G (p.Leu132Arg)
c.277+3362T>G
c.342T>G
c.*397T>G (n.*397T>G)
c.*686T>G (n.*686T>G)
c.491T>G (p.Leu164Arg)
n.2426T>G
Xg.153592642A>GCA415088024CCNQc.521T>C (p.Leu174Pro)
c.193+1905T>C
c.395T>C (p.Leu132Pro)
c.277+3362T>C
c.342T>C
c.*397T>C (n.*397T>C)
c.*686T>C (n.*686T>C)
c.491T>C (p.Leu164Pro)
n.2426T>C
Xg.153592642A>TCA415088026CCNQc.521T>A (p.Leu174Gln)
c.193+1905T>A
c.395T>A (p.Leu132Gln)
c.277+3362T>A
c.342T>A
c.*397T>A (n.*397T>A)
c.*686T>A (n.*686T>A)
c.491T>A (p.Leu164Gln)
n.2426T>A
Xg.153592643G>ACA519214147CCNQc.520C>T (p.Leu174=)
c.193+1904C>T
c.394C>T (p.Leu132=)
c.277+3361C>T
c.341C>T
c.*396C>T (n.*396C>T)
c.*685C>T (n.*685C>T)
c.490C>T (p.Leu164=)
n.2425C>T
Xg.153592643G>CCA415088028CCNQc.520C>G (p.Leu174Val)
c.193+1904C>G
c.394C>G (p.Leu132Val)
c.277+3361C>G
c.341C>G
c.*396C>G (n.*396C>G)
c.*685C>G (n.*685C>G)
c.490C>G (p.Leu164Val)
n.2425C>G
Xg.153592643G>TCA415088030CCNQc.520C>A (p.Leu174Met)
c.193+1904C>A
c.394C>A (p.Leu132Met)
c.277+3361C>A
c.341C>A
c.*396C>A (n.*396C>A)
c.*685C>A (n.*685C>A)
c.490C>A (p.Leu164Met)
n.2425C>A
Xg.153592644C>ACA519214148CCNQc.519G>T (p.Leu173=)
c.193+1903G>T
c.393G>T (p.Leu131=)
c.277+3360G>T
c.340G>T
c.*395G>T (n.*395G>T)
c.*684G>T (n.*684G>T)
c.489G>T (p.Leu163=)
n.2424G>T
Xg.153592644C>GCA519214165CCNQc.519G>C (p.Leu173=)
c.193+1903G>C
c.393G>C (p.Leu131=)
c.277+3360G>C
c.340G>C
c.*395G>C (n.*395G>C)
c.*684G>C (n.*684G>C)
c.489G>C (p.Leu163=)
n.2424G>C
Xg.153592644C>TCA519214151CCNQc.519G>A (p.Leu173=)
c.193+1903G>A
c.393G>A (p.Leu131=)
c.277+3360G>A
c.340G>A
c.*395G>A (n.*395G>A)
c.*684G>A (n.*684G>A)
c.489G>A (p.Leu163=)
n.2424G>A
Xg.153592645A>CCA415088033CCNQc.518T>G (p.Leu173Arg)
c.193+1902T>G
c.392T>G (p.Leu131Arg)
c.277+3359T>G
c.339T>G
c.*394T>G (n.*394T>G)
c.*683T>G (n.*683T>G)
c.488T>G (p.Leu163Arg)
n.2423T>G
Xg.153592645A>GCA415088038CCNQc.518T>C (p.Leu173Pro)
c.193+1902T>C
c.392T>C (p.Leu131Pro)
c.277+3359T>C
c.339T>C
c.*394T>C (n.*394T>C)
c.*683T>C (n.*683T>C)
c.488T>C (p.Leu163Pro)
n.2423T>C
Xg.153592645A>TCA415088036CCNQc.518T>A (p.Leu173Gln)
c.193+1902T>A
c.392T>A (p.Leu131Gln)
c.277+3359T>A
c.339T>A
c.*394T>A (n.*394T>A)
c.*683T>A (n.*683T>A)
c.488T>A (p.Leu163Gln)
n.2423T>A
Xg.153592645_153592661delinsTCA2695237187CCNQc.502_518delinsA (p.Val168SerfsTer?)
c.193+1886_193+1902delinsA
c.376_392delinsA (p.Val126SerfsTer?)
c.277+3343_277+3359delinsA
c.323_339delinsA
c.*378_*394delinsA (n.*378_*394delinsA)
c.*667_*683delinsA (n.*667_*683delinsA)
c.472_488delinsA (p.Val158SerfsTer?)
n.2407_2423delinsA
Xg.153592646G>ACA519214178CCNQc.517C>T (p.Leu173=)
c.193+1901C>T
c.391C>T (p.Leu131=)
c.277+3358C>T
c.338C>T
c.*393C>T (n.*393C>T)
c.*682C>T (n.*682C>T)
c.487C>T (p.Leu163=)
n.2422C>T
Xg.153592646G>CCA415088041CCNQc.517C>G (p.Leu173Val)
c.193+1901C>G
c.391C>G (p.Leu131Val)
c.277+3358C>G
c.338C>G
c.*393C>G (n.*393C>G)
c.*682C>G (n.*682C>G)
c.487C>G (p.Leu163Val)
n.2422C>G
Xg.153592646G>TCA415088044CCNQc.517C>A (p.Leu173Met)
c.193+1901C>A
c.391C>A (p.Leu131Met)
c.277+3358C>A
c.338C>A
c.*393C>A (n.*393C>A)
c.*682C>A (n.*682C>A)
c.487C>A (p.Leu163Met)
n.2422C>A
Xg.153592647G>ACA519214183CCNQc.516C>T (p.Ala172=)
c.193+1900C>T
c.390C>T (p.Ala130=)
c.277+3357C>T
c.337C>T
c.*392C>T (n.*392C>T)
c.*681C>T (n.*681C>T)
c.486C>T (p.Ala162=)
n.2421C>T
Xg.153592647G>CCA519214187CCNQc.516C>G (p.Ala172=)
c.193+1900C>G
c.390C>G (p.Ala130=)
c.277+3357C>G
c.337C>G
c.*392C>G (n.*392C>G)
c.*681C>G (n.*681C>G)
c.486C>G (p.Ala162=)
n.2421C>G
Xg.153592647G>TCA519214189CCNQc.516C>A (p.Ala172=)
c.193+1900C>A
c.390C>A (p.Ala130=)
c.277+3357C>A
c.337C>A
c.*392C>A (n.*392C>A)
c.*681C>A (n.*681C>A)
c.486C>A (p.Ala162=)
n.2421C>A
 COSMIC
Xg.153592648G>ACA415088047CCNQc.515C>T (p.Ala172Val)
c.193+1899C>T
c.389C>T (p.Ala130Val)
c.277+3356C>T
c.336C>T
c.*391C>T (n.*391C>T)
c.*680C>T (n.*680C>T)
c.485C>T (p.Ala162Val)
n.2420C>T
Xg.153592648G>CCA415088049CCNQc.515C>G (p.Ala172Gly)
c.193+1899C>G
c.389C>G (p.Ala130Gly)
c.277+3356C>G
c.336C>G
c.*391C>G (n.*391C>G)
c.*680C>G (n.*680C>G)
c.485C>G (p.Ala162Gly)
n.2420C>G
 ClinVar
Xg.153592648G>TCA415088053CCNQc.515C>A (p.Ala172Asp)
c.193+1899C>A
c.389C>A (p.Ala130Asp)
c.277+3356C>A
c.336C>A
c.*391C>A (n.*391C>A)
c.*680C>A (n.*680C>A)
c.485C>A (p.Ala162Asp)
n.2420C>A
Xg.153592649C>ACA415088056CCNQc.514G>T (p.Ala172Ser)
c.193+1898G>T
c.388G>T (p.Ala130Ser)
c.277+3355G>T
c.335G>T
c.*390G>T (n.*390G>T)
c.*679G>T (n.*679G>T)
c.484G>T (p.Ala162Ser)
n.2419G>T
 gnomAD v4 COSMIC
Xg.153592649C>GCA415088059CCNQc.514G>C (p.Ala172Pro)
c.193+1898G>C
c.388G>C (p.Ala130Pro)
c.277+3355G>C
c.335G>C
c.*390G>C (n.*390G>C)
c.*679G>C (n.*679G>C)
c.484G>C (p.Ala162Pro)
n.2419G>C
Xg.153592649C>TCA415088061CCNQc.514G>A (p.Ala172Thr)
c.193+1898G>A
c.388G>A (p.Ala130Thr)
c.277+3355G>A
c.335G>A
c.*390G>A (n.*390G>A)
c.*679G>A (n.*679G>A)
c.484G>A (p.Ala162Thr)
n.2419G>A
Xg.153592650C>ACA415088065CCNQc.513G>T (p.Trp171Cys)
c.193+1897G>T
c.387G>T (p.Trp129Cys)
c.277+3354G>T
c.334G>T
c.*389G>T (n.*389G>T)
c.*678G>T (n.*678G>T)
c.483G>T (p.Trp161Cys)
n.2418G>T
Xg.153592650C>GCA415088068CCNQc.513G>C (p.Trp171Cys)
c.193+1897G>C
c.387G>C (p.Trp129Cys)
c.277+3354G>C
c.334G>C
c.*389G>C (n.*389G>C)
c.*678G>C (n.*678G>C)
c.483G>C (p.Trp161Cys)
n.2418G>C
Xg.153592650C>TCA415088070CCNQc.513G>A (p.Trp171Ter)
c.193+1897G>A
c.387G>A (p.Trp129Ter)
c.277+3354G>A
c.334G>A
c.*389G>A (n.*389G>A)
c.*678G>A (n.*678G>A)
c.483G>A (p.Trp161Ter)
n.2418G>A
Xg.153592651C>ACA415088076CCNQc.512G>T (p.Trp171Leu)
c.193+1896G>T
c.386G>T (p.Trp129Leu)
c.277+3353G>T
c.333G>T
c.*388G>T (n.*388G>T)
c.*677G>T (n.*677G>T)
c.482G>T (p.Trp161Leu)
n.2417G>T
Xg.153592651C=CA2466399768CCNQc.512G= (p.Trp171=)
c.193+1896G=
c.386G= (p.Trp129=)
c.277+3353G=
c.333G=
c.*388G= (n.*388G=)
c.*677G= (n.*677G=)
c.482G= (p.Trp161=)
n.2417G=
Xg.153592651C>GCA415088072CCNQc.512G>C (p.Trp171Ser)
c.193+1896G>C
c.386G>C (p.Trp129Ser)
c.277+3353G>C
c.333G>C
c.*388G>C (n.*388G>C)
c.*677G>C (n.*677G>C)
c.482G>C (p.Trp161Ser)
n.2417G>C
Xg.153592651C>TCA415088074CCNQc.512G>A (p.Trp171Ter)
c.193+1896G>A
c.386G>A (p.Trp129Ter)
c.277+3353G>A
c.333G>A
c.*388G>A (n.*388G>A)
c.*677G>A (n.*677G>A)
c.482G>A (p.Trp161Ter)
n.2417G>A
 dbSNP gnomAD v2
Xg.153592652A>CCA415088077CCNQc.511T>G (p.Trp171Gly)
c.193+1895T>G
c.385T>G (p.Trp129Gly)
c.277+3352T>G
c.332T>G
c.*387T>G (n.*387T>G)
c.*676T>G (n.*676T>G)
c.481T>G (p.Trp161Gly)
n.2416T>G
Xg.153592652A>GCA415088079CCNQc.511T>C (p.Trp171Arg)
c.193+1895T>C
c.385T>C (p.Trp129Arg)
c.277+3352T>C
c.332T>C
c.*387T>C (n.*387T>C)
c.*676T>C (n.*676T>C)
c.481T>C (p.Trp161Arg)
n.2416T>C
Xg.153592652A>TCA415088081CCNQc.511T>A (p.Trp171Arg)
c.193+1895T>A
c.385T>A (p.Trp129Arg)
c.277+3352T>A
c.332T>A
c.*387T>A (n.*387T>A)
c.*676T>A (n.*676T>A)
c.481T>A (p.Trp161Arg)
n.2416T>A
Xg.153592653G>ACA519214236CCNQc.510C>T (p.Ala170=)
c.193+1894C>T
c.384C>T (p.Ala128=)
c.277+3351C>T
c.331C>T
c.*386C>T (n.*386C>T)
c.*675C>T (n.*675C>T)
c.480C>T (p.Ala160=)
n.2415C>T
Xg.153592653G>CCA519214243CCNQc.510C>G (p.Ala170=)
c.193+1894C>G
c.384C>G (p.Ala128=)
c.277+3351C>G
c.331C>G
c.*386C>G (n.*386C>G)
c.*675C>G (n.*675C>G)
c.480C>G (p.Ala160=)
n.2415C>G
Xg.153592653G>TCA519214247CCNQc.510C>A (p.Ala170=)
c.193+1894C>A
c.384C>A (p.Ala128=)
c.277+3351C>A
c.331C>A
c.*386C>A (n.*386C>A)
c.*675C>A (n.*675C>A)
c.480C>A (p.Ala160=)
n.2415C>A
Xg.153592654G>ACA415088083CCNQc.509C>T (p.Ala170Val)
c.193+1893C>T
c.383C>T (p.Ala128Val)
c.277+3350C>T
c.330C>T
c.*385C>T (n.*385C>T)
c.*674C>T (n.*674C>T)
c.479C>T (p.Ala160Val)
n.2414C>T
Xg.153592654G>CCA415088085CCNQc.509C>G (p.Ala170Gly)
c.193+1893C>G
c.383C>G (p.Ala128Gly)
c.277+3350C>G
c.330C>G
c.*385C>G (n.*385C>G)
c.*674C>G (n.*674C>G)
c.479C>G (p.Ala160Gly)
n.2414C>G
Xg.153592654G>TCA415088087CCNQc.509C>A (p.Ala170Asp)
c.193+1893C>A
c.383C>A (p.Ala128Asp)
c.277+3350C>A
c.330C>A
c.*385C>A (n.*385C>A)
c.*674C>A (n.*674C>A)
c.479C>A (p.Ala160Asp)
n.2414C>A
Xg.153592655C>ACA415088089CCNQc.508G>T (p.Ala170Ser)
c.193+1892G>T
c.382G>T (p.Ala128Ser)
c.277+3349G>T
c.329G>T
c.*384G>T (n.*384G>T)
c.*673G>T (n.*673G>T)
c.478G>T (p.Ala160Ser)
n.2413G>T
 gnomAD v4
Xg.153592655C=CA2466399769CCNQc.508G= (p.Ala170=)
c.193+1892G=
c.382G= (p.Ala128=)
c.277+3349G=
c.329G=
c.*384G= (n.*384G=)
c.*673G= (n.*673G=)
c.478G= (p.Ala160=)
n.2413G=
Xg.153592655C>GCA415088092CCNQc.508G>C (p.Ala170Pro)
c.193+1892G>C
c.382G>C (p.Ala128Pro)
c.277+3349G>C
c.329G>C
c.*384G>C (n.*384G>C)
c.*673G>C (n.*673G>C)
c.478G>C (p.Ala160Pro)
n.2413G>C
Xg.153592655C>TCA415088093CCNQc.508G>A (p.Ala170Thr)
c.193+1892G>A
c.382G>A (p.Ala128Thr)
c.277+3349G>A
c.329G>A
c.*384G>A (n.*384G>A)
c.*673G>A (n.*673G>A)
c.478G>A (p.Ala160Thr)
n.2413G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.153592656G>ACA10548395CCNQc.507C>T (p.Thr169=)
c.193+1891C>T
c.381C>T (p.Thr127=)
c.277+3348C>T
c.328C>T
c.*383C>T (n.*383C>T)
c.*672C>T (n.*672C>T)
c.477C>T (p.Thr159=)
n.2412C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153592656G>CCA519214289CCNQc.507C>G (p.Thr169=)
c.193+1891C>G
c.381C>G (p.Thr127=)
c.277+3348C>G
c.328C>G
c.*383C>G (n.*383C>G)
c.*672C>G (n.*672C>G)
c.477C>G (p.Thr159=)
n.2412C>G
Xg.153592656G=CA2466399770CCNQc.507C= (p.Thr169=)
c.193+1891C=
c.381C= (p.Thr127=)
c.277+3348C=
c.328C=
c.*383C= (n.*383C=)
c.*672C= (n.*672C=)
c.477C= (p.Thr159=)
n.2412C=
Xg.153592656G>TCA519214291CCNQc.507C>A (p.Thr169=)
c.193+1891C>A
c.381C>A (p.Thr127=)
c.277+3348C>A
c.328C>A
c.*383C>A (n.*383C>A)
c.*672C>A (n.*672C>A)
c.477C>A (p.Thr159=)
n.2412C>A
 dbSNP
Xg.153592657G>ACA415088099CCNQc.506C>T (p.Thr169Ile)
c.193+1890C>T
c.380C>T (p.Thr127Ile)
c.277+3347C>T
c.327C>T
c.*382C>T (n.*382C>T)
c.*671C>T (n.*671C>T)
c.476C>T (p.Thr159Ile)
n.2411C>T
Xg.153592657G>CCA415088098CCNQc.506C>G (p.Thr169Ser)
c.193+1890C>G
c.380C>G (p.Thr127Ser)
c.277+3347C>G
c.327C>G
c.*382C>G (n.*382C>G)
c.*671C>G (n.*671C>G)
c.476C>G (p.Thr159Ser)
n.2411C>G
Xg.153592657G>TCA415088097CCNQc.506C>A (p.Thr169Asn)
c.193+1890C>A
c.380C>A (p.Thr127Asn)
c.277+3347C>A
c.327C>A
c.*382C>A (n.*382C>A)
c.*671C>A (n.*671C>A)
c.476C>A (p.Thr159Asn)
n.2411C>A
Xg.153592658T>ACA415088103CCNQc.505A>T (p.Thr169Ser)
c.193+1889A>T
c.379A>T (p.Thr127Ser)
c.277+3346A>T
c.326A>T
c.*381A>T (n.*381A>T)
c.*670A>T (n.*670A>T)
c.475A>T (p.Thr159Ser)
n.2410A>T
Xg.153592658T>CCA415088101CCNQc.505A>G (p.Thr169Ala)
c.193+1889A>G
c.379A>G (p.Thr127Ala)
c.277+3346A>G
c.326A>G
c.*381A>G (n.*381A>G)
c.*670A>G (n.*670A>G)
c.475A>G (p.Thr159Ala)
n.2410A>G
 gnomAD v4
Xg.153592658T>GCA415088102CCNQc.505A>C (p.Thr169Pro)
c.193+1889A>C
c.379A>C (p.Thr127Pro)
c.277+3346A>C
c.326A>C
c.*381A>C (n.*381A>C)
c.*670A>C (n.*670A>C)
c.475A>C (p.Thr159Pro)
n.2410A>C
Xg.153592659G>ACA519214293CCNQc.504C>T (p.Val168=)
c.193+1888C>T
c.378C>T (p.Val126=)
c.277+3345C>T
c.325C>T
c.*380C>T (n.*380C>T)
c.*669C>T (n.*669C>T)
c.474C>T (p.Val158=)
n.2409C>T
Xg.153592659G>CCA519214298CCNQc.504C>G (p.Val168=)
c.193+1888C>G
c.378C>G (p.Val126=)
c.277+3345C>G
c.325C>G
c.*380C>G (n.*380C>G)
c.*669C>G (n.*669C>G)
c.474C>G (p.Val158=)
n.2409C>G
 dbSNP gnomAD v2 gnomAD v4
Xg.153592659G=CA2466399771CCNQc.504C= (p.Val168=)
c.193+1888C=
c.378C= (p.Val126=)
c.277+3345C=
c.325C=
c.*380C= (n.*380C=)
c.*669C= (n.*669C=)
c.474C= (p.Val158=)
n.2409C=
Xg.153592659G>TCA519214313CCNQc.504C>A (p.Val168=)
c.193+1888C>A
c.378C>A (p.Val126=)
c.277+3345C>A
c.325C>A
c.*380C>A (n.*380C>A)
c.*669C>A (n.*669C>A)
c.474C>A (p.Val158=)
n.2409C>A
 COSMIC
Xg.153592660A>CCA415088105CCNQc.503T>G (p.Val168Gly)
c.193+1887T>G
c.377T>G (p.Val126Gly)
c.277+3344T>G
c.324T>G
c.*379T>G (n.*379T>G)
c.*668T>G (n.*668T>G)
c.473T>G (p.Val158Gly)
n.2408T>G
Xg.153592660A>GCA415088108CCNQc.503T>C (p.Val168Ala)
c.193+1887T>C
c.377T>C (p.Val126Ala)
c.277+3344T>C
c.324T>C
c.*379T>C (n.*379T>C)
c.*668T>C (n.*668T>C)
c.473T>C (p.Val158Ala)
n.2408T>C
Xg.153592660A>TCA415088111CCNQc.503T>A (p.Val168Asp)
c.193+1887T>A
c.377T>A (p.Val126Asp)
c.277+3344T>A
c.324T>A
c.*379T>A (n.*379T>A)
c.*668T>A (n.*668T>A)
c.473T>A (p.Val158Asp)
n.2408T>A
Xg.153592661C>ACA10548396CCNQc.502G>T (p.Val168Phe)
c.193+1886G>T
c.376G>T (p.Val126Phe)
c.277+3343G>T
c.323G>T
c.*378G>T (n.*378G>T)
c.*667G>T (n.*667G>T)
c.472G>T (p.Val158Phe)
n.2407G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153592661C=CA2466399772CCNQc.502G= (p.Val168=)
c.193+1886G=
c.376G= (p.Val126=)
c.277+3343G=
c.323G=
c.*378G= (n.*378G=)
c.*667G= (n.*667G=)
c.472G= (p.Val158=)
n.2407G=
Xg.153592661C>GCA415088117CCNQc.502G>C (p.Val168Leu)
c.193+1886G>C
c.376G>C (p.Val126Leu)
c.277+3343G>C
c.323G>C
c.*378G>C (n.*378G>C)
c.*667G>C (n.*667G>C)
c.472G>C (p.Val158Leu)
n.2407G>C
Xg.153592661C>TCA10548397CCNQc.502G>A (p.Val168Ile)
c.193+1886G>A
c.376G>A (p.Val126Ile)
c.277+3343G>A
c.323G>A
c.*378G>A (n.*378G>A)
c.*667G>A (n.*667G>A)
c.472G>A (p.Val158Ile)
n.2407G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.153592662G>ACA10548398CCNQc.501C>T (p.Ala167=)
c.193+1885C>T
c.375C>T (p.Ala125=)
c.277+3342C>T
c.322C>T
c.*377C>T (n.*377C>T)
c.*666C>T (n.*666C>T)
c.471C>T (p.Ala157=)
n.2406C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153592662G>CCA519214334CCNQc.501C>G (p.Ala167=)
c.193+1885C>G
c.375C>G (p.Ala125=)
c.277+3342C>G
c.322C>G
c.*377C>G (n.*377C>G)
c.*666C>G (n.*666C>G)
c.471C>G (p.Ala157=)
n.2406C>G
Xg.153592662G=CA2466399773CCNQc.501C= (p.Ala167=)
c.193+1885C=
c.375C= (p.Ala125=)
c.277+3342C=
c.322C=
c.*377C= (n.*377C=)
c.*666C= (n.*666C=)
c.471C= (p.Ala157=)
n.2406C=
Xg.153592662G>TCA519214337CCNQc.501C>A (p.Ala167=)
c.193+1885C>A
c.375C>A (p.Ala125=)
c.277+3342C>A
c.322C>A
c.*377C>A (n.*377C>A)
c.*666C>A (n.*666C>A)
c.471C>A (p.Ala157=)
n.2406C>A
Xg.153592663G>ACA415088123CCNQc.500C>T (p.Ala167Val)
c.193+1884C>T
c.374C>T (p.Ala125Val)
c.277+3341C>T
c.321C>T
c.*376C>T (n.*376C>T)
c.*665C>T (n.*665C>T)
c.470C>T (p.Ala157Val)
n.2405C>T
Xg.153592663G>CCA415088125CCNQc.500C>G (p.Ala167Gly)
c.193+1884C>G
c.374C>G (p.Ala125Gly)
c.277+3341C>G
c.321C>G
c.*376C>G (n.*376C>G)
c.*665C>G (n.*665C>G)
c.470C>G (p.Ala157Gly)
n.2405C>G
Xg.153592663G>TCA415088127CCNQc.500C>A (p.Ala167Asp)
c.193+1884C>A
c.374C>A (p.Ala125Asp)
c.277+3341C>A
c.321C>A
c.*376C>A (n.*376C>A)
c.*665C>A (n.*665C>A)
c.470C>A (p.Ala157Asp)
n.2405C>A
 gnomAD v4
Xg.153592664C>ACA415088136CCNQc.499G>T (p.Ala167Ser)
c.193+1883G>T
c.373G>T (p.Ala125Ser)
c.277+3340G>T
c.320G>T
c.*375G>T (n.*375G>T)
c.*664G>T (n.*664G>T)
c.469G>T (p.Ala157Ser)
n.2404G>T
Xg.153592664C=CA2466399774CCNQc.499G= (p.Ala167=)
c.193+1883G=
c.373G= (p.Ala125=)
c.277+3340G=
c.320G=
c.*375G= (n.*375G=)
c.*664G= (n.*664G=)
c.469G= (p.Ala157=)
n.2404G=
Xg.153592664C>GCA415088134CCNQc.499G>C (p.Ala167Pro)
c.193+1883G>C
c.373G>C (p.Ala125Pro)
c.277+3340G>C
c.320G>C
c.*375G>C (n.*375G>C)
c.*664G>C (n.*664G>C)
c.469G>C (p.Ala157Pro)
n.2404G>C
 dbSNP
Xg.153592664C>TCA415088132CCNQc.499G>A (p.Ala167Thr)
c.193+1883G>A
c.373G>A (p.Ala125Thr)
c.277+3340G>A
c.320G>A
c.*375G>A (n.*375G>A)
c.*664G>A (n.*664G>A)
c.469G>A (p.Ala157Thr)
n.2404G>A
Xg.153592665A>CCA519214364CCNQc.498T>G (p.Val166=)
c.193+1882T>G
c.372T>G (p.Val124=)
c.277+3339T>G
c.319T>G
c.*374T>G (n.*374T>G)
c.*663T>G (n.*663T>G)
c.468T>G (p.Val156=)
n.2403T>G
Xg.153592665A>GCA519214360CCNQc.498T>C (p.Val166=)
c.193+1882T>C
c.372T>C (p.Val124=)
c.277+3339T>C
c.319T>C
c.*374T>C (n.*374T>C)
c.*663T>C (n.*663T>C)
c.468T>C (p.Val156=)
n.2403T>C
 COSMIC
Xg.153592665A>TCA519214363CCNQc.498T>A (p.Val166=)
c.193+1882T>A
c.372T>A (p.Val124=)
c.277+3339T>A
c.319T>A
c.*374T>A (n.*374T>A)
c.*663T>A (n.*663T>A)
c.468T>A (p.Val156=)
n.2403T>A
Xg.153592666A>CCA415088140CCNQc.497T>G (p.Val166Gly)
c.193+1881T>G
c.371T>G (p.Val124Gly)
c.277+3338T>G
c.318T>G
c.*373T>G (n.*373T>G)
c.*662T>G (n.*662T>G)
c.467T>G (p.Val156Gly)
n.2402T>G
Xg.153592666A>GCA415088142CCNQc.497T>C (p.Val166Ala)
c.193+1881T>C
c.371T>C (p.Val124Ala)
c.277+3338T>C
c.318T>C
c.*373T>C (n.*373T>C)
c.*662T>C (n.*662T>C)
c.467T>C (p.Val156Ala)
n.2402T>C
Xg.153592666A>TCA415088144CCNQc.497T>A (p.Val166Asp)
c.193+1881T>A
c.371T>A (p.Val124Asp)
c.277+3338T>A
c.318T>A
c.*373T>A (n.*373T>A)
c.*662T>A (n.*662T>A)
c.467T>A (p.Val156Asp)
n.2402T>A
Xg.153592667C>ACA415088147CCNQc.496G>T (p.Val166Phe)
c.193+1880G>T
c.370G>T (p.Val124Phe)
c.277+3337G>T
c.317G>T
c.*372G>T (n.*372G>T)
c.*661G>T (n.*661G>T)
c.466G>T (p.Val156Phe)
n.2401G>T
Xg.153592667C>GCA415088150CCNQc.496G>C (p.Val166Leu)
c.193+1880G>C
c.370G>C (p.Val124Leu)
c.277+3337G>C
c.317G>C
c.*372G>C (n.*372G>C)
c.*661G>C (n.*661G>C)
c.466G>C (p.Val156Leu)
n.2401G>C
Xg.153592667C>TCA415088153CCNQc.496G>A (p.Val166Ile)
c.193+1880G>A
c.370G>A (p.Val124Ile)
c.277+3337G>A
c.317G>A
c.*372G>A (n.*372G>A)
c.*661G>A (n.*661G>A)
c.466G>A (p.Val156Ile)
n.2401G>A
Xg.153592668A=CA2466399775CCNQc.495T= (p.Pro165=)
c.193+1879T=
c.369T= (p.Pro123=)
c.277+3336T=
c.316T=
c.*371T= (n.*371T=)
c.*660T= (n.*660T=)
c.465T= (p.Pro155=)
n.2400T=
Xg.153592668A>CCA10548399CCNQc.495T>G (p.Pro165=)
c.193+1879T>G
c.369T>G (p.Pro123=)
c.277+3336T>G
c.316T>G
c.*371T>G (n.*371T>G)
c.*660T>G (n.*660T>G)
c.465T>G (p.Pro155=)
n.2400T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153592668A>GCA519214376CCNQc.495T>C (p.Pro165=)
c.193+1879T>C
c.369T>C (p.Pro123=)
c.277+3336T>C
c.316T>C
c.*371T>C (n.*371T>C)
c.*660T>C (n.*660T>C)
c.465T>C (p.Pro155=)
n.2400T>C
Xg.153592668A>TCA519214379CCNQc.495T>A (p.Pro165=)
c.193+1879T>A
c.369T>A (p.Pro123=)
c.277+3336T>A
c.316T>A
c.*371T>A (n.*371T>A)
c.*660T>A (n.*660T>A)
c.465T>A (p.Pro155=)
n.2400T>A
Xg.153592669G>ACA415088158CCNQc.494C>T (p.Pro165Leu)
c.193+1878C>T
c.368C>T (p.Pro123Leu)
c.277+3335C>T
c.315C>T
c.*370C>T (n.*370C>T)
c.*659C>T (n.*659C>T)
c.464C>T (p.Pro155Leu)
n.2399C>T
Xg.153592669G>CCA415088161CCNQc.494C>G (p.Pro165Arg)
c.193+1878C>G
c.368C>G (p.Pro123Arg)
c.277+3335C>G
c.315C>G
c.*370C>G (n.*370C>G)
c.*659C>G (n.*659C>G)
c.464C>G (p.Pro155Arg)
n.2399C>G
Xg.153592669G>TCA415088167CCNQc.494C>A (p.Pro165His)
c.193+1878C>A
c.368C>A (p.Pro123His)
c.277+3335C>A
c.315C>A
c.*370C>A (n.*370C>A)
c.*659C>A (n.*659C>A)
c.464C>A (p.Pro155His)
n.2399C>A
Xg.153592670G>ACA415088169CCNQc.493C>T (p.Pro165Ser)
c.193+1877C>T
c.367C>T (p.Pro123Ser)
c.277+3334C>T
c.314C>T
c.*369C>T (n.*369C>T)
c.*658C>T (n.*658C>T)
c.463C>T (p.Pro155Ser)
n.2398C>T
 gnomAD v4
Xg.153592670G>CCA415088171CCNQc.493C>G (p.Pro165Ala)
c.193+1877C>G
c.367C>G (p.Pro123Ala)
c.277+3334C>G
c.314C>G
c.*369C>G (n.*369C>G)
c.*658C>G (n.*658C>G)
c.463C>G (p.Pro155Ala)
n.2398C>G
Xg.153592670G>TCA415088172CCNQc.493C>A (p.Pro165Thr)
c.193+1877C>A
c.367C>A (p.Pro123Thr)
c.277+3334C>A
c.314C>A
c.*369C>A (n.*369C>A)
c.*658C>A (n.*658C>A)
c.463C>A (p.Pro155Thr)
n.2398C>A
Xg.153592671G>ACA519214394CCNQc.492C>T (p.Thr164=)
c.193+1876C>T
c.366C>T (p.Thr122=)
c.277+3333C>T
c.313C>T
c.*368C>T (n.*368C>T)
c.*657C>T (n.*657C>T)
c.462C>T (p.Thr154=)
n.2397C>T
Xg.153592671G>CCA519214395CCNQc.492C>G (p.Thr164=)
c.193+1876C>G
c.366C>G (p.Thr122=)
c.277+3333C>G
c.313C>G
c.*368C>G (n.*368C>G)
c.*657C>G (n.*657C>G)
c.462C>G (p.Thr154=)
n.2397C>G
Xg.153592671G>TCA519214397CCNQc.492C>A (p.Thr164=)
c.193+1876C>A
c.366C>A (p.Thr122=)
c.277+3333C>A
c.313C>A
c.*368C>A (n.*368C>A)
c.*657C>A (n.*657C>A)
c.462C>A (p.Thr154=)
n.2397C>A
Xg.153592672G>ACA415088180CCNQc.491C>T (p.Thr164Ile)
c.193+1875C>T
c.365C>T (p.Thr122Ile)
c.277+3332C>T
c.312C>T
c.*367C>T (n.*367C>T)
c.*656C>T (n.*656C>T)
c.461C>T (p.Thr154Ile)
n.2396C>T
Xg.153592672G>CCA415088178CCNQc.491C>G (p.Thr164Ser)
c.193+1875C>G
c.365C>G (p.Thr122Ser)
c.277+3332C>G
c.312C>G
c.*367C>G (n.*367C>G)
c.*656C>G (n.*656C>G)
c.461C>G (p.Thr154Ser)
n.2396C>G
Xg.153592672G>TCA415088175CCNQc.491C>A (p.Thr164Asn)
c.193+1875C>A
c.365C>A (p.Thr122Asn)
c.277+3332C>A
c.312C>A
c.*367C>A (n.*367C>A)
c.*656C>A (n.*656C>A)
c.461C>A (p.Thr154Asn)
n.2396C>A
Xg.153592673T>ACA337225364CCNQc.490A>T (p.Thr164Ser)
c.193+1874A>T
c.364A>T (p.Thr122Ser)
c.277+3331A>T
c.311A>T
c.*366A>T (n.*366A>T)
c.*655A>T (n.*655A>T)
c.460A>T (p.Thr154Ser)
n.2395A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153592673T>CCA415088184CCNQc.490A>G (p.Thr164Ala)
c.193+1874A>G
c.364A>G (p.Thr122Ala)
c.277+3331A>G
c.311A>G
c.*366A>G (n.*366A>G)
c.*655A>G (n.*655A>G)
c.460A>G (p.Thr154Ala)
n.2395A>G
Xg.153592673T>GCA415088186CCNQc.490A>C (p.Thr164Pro)
c.193+1874A>C
c.364A>C (p.Thr122Pro)
c.277+3331A>C
c.311A>C
c.*366A>C (n.*366A>C)
c.*655A>C (n.*655A>C)
c.460A>C (p.Thr154Pro)
n.2395A>C
Xg.153592673T=CA2466399776CCNQc.490A= (p.Thr164=)
c.193+1874A=
c.364A= (p.Thr122=)
c.277+3331A=
c.311A=
c.*366A= (n.*366A=)
c.*655A= (n.*655A=)
c.460A= (p.Thr154=)
n.2395A=
Xg.153592674C>ACA519214425CCNQc.489G>T (p.Arg163=)
c.193+1873G>T
c.363G>T (p.Arg121=)
c.277+3330G>T
c.310G>T
c.*365G>T (n.*365G>T)
c.*654G>T (n.*654G>T)
c.459G>T (p.Arg153=)
n.2394G>T
Xg.153592674C>GCA519214421CCNQc.489G>C (p.Arg163=)
c.193+1873G>C
c.363G>C (p.Arg121=)
c.277+3330G>C
c.310G>C
c.*365G>C (n.*365G>C)
c.*654G>C (n.*654G>C)
c.459G>C (p.Arg153=)
n.2394G>C
Xg.153592674C>TCA519214419CCNQc.489G>A (p.Arg163=)
c.193+1873G>A
c.363G>A (p.Arg121=)
c.277+3330G>A
c.310G>A
c.*365G>A (n.*365G>A)
c.*654G>A (n.*654G>A)
c.459G>A (p.Arg153=)
n.2394G>A
Xg.153592675C>ACA10548400CCNQc.488G>T (p.Arg163Leu)
c.193+1872G>T
c.362G>T (p.Arg121Leu)
c.277+3329G>T
c.309G>T
c.*364G>T (n.*364G>T)
c.*653G>T (n.*653G>T)
c.458G>T (p.Arg153Leu)
n.2393G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153592675C=CA2466399777CCNQc.488G= (p.Arg163=)
c.193+1872G=
c.362G= (p.Arg121=)
c.277+3329G=
c.309G=
c.*364G= (n.*364G=)
c.*653G= (n.*653G=)
c.458G= (p.Arg153=)
n.2393G=
Xg.153592675C>GCA415088190CCNQc.488G>C (p.Arg163Pro)
c.193+1872G>C
c.362G>C (p.Arg121Pro)
c.277+3329G>C
c.309G>C
c.*364G>C (n.*364G>C)
c.*653G>C (n.*653G>C)
c.458G>C (p.Arg153Pro)
n.2393G>C
Xg.153592675C>TCA415088193CCNQc.488G>A (p.Arg163Gln)
c.193+1872G>A
c.362G>A (p.Arg121Gln)
c.277+3329G>A
c.309G>A
c.*364G>A (n.*364G>A)
c.*653G>A (n.*653G>A)
c.458G>A (p.Arg153Gln)
n.2393G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153592676G>ACA415088196CCNQc.487C>T (p.Arg163Trp)
c.193+1871C>T
c.361C>T (p.Arg121Trp)
c.277+3328C>T
c.308C>T
c.*363C>T (n.*363C>T)
c.*652C>T (n.*652C>T)
c.457C>T (p.Arg153Trp)
n.2392C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.153592676G>CCA415088198CCNQc.487C>G (p.Arg163Gly)
c.193+1871C>G
c.361C>G (p.Arg121Gly)
c.277+3328C>G
c.308C>G
c.*363C>G (n.*363C>G)
c.*652C>G (n.*652C>G)
c.457C>G (p.Arg153Gly)
n.2392C>G
Xg.153592676G=CA2466399778CCNQc.487C= (p.Arg163=)
c.193+1871C=
c.361C= (p.Arg121=)
c.277+3328C=
c.308C=
c.*363C= (n.*363C=)
c.*652C= (n.*652C=)
c.457C= (p.Arg153=)
n.2392C=
Xg.153592676G>TCA519214431CCNQc.487C>A (p.Arg163=)
c.193+1871C>A
c.361C>A (p.Arg121=)
c.277+3328C>A
c.308C>A
c.*363C>A (n.*363C>A)
c.*652C>A (n.*652C>A)
c.457C>A (p.Arg153=)
n.2392C>A
Xg.153592677C>ACA415088201CCNQc.486G>T (p.Gln162His)
c.193+1870G>T
c.360G>T (p.Gln120His)
c.277+3327G>T
c.307G>T
c.*362G>T (n.*362G>T)
c.*651G>T (n.*651G>T)
c.456G>T (p.Gln152His)
n.2391G>T
Xg.153592677C>GCA415088205CCNQc.486G>C (p.Gln162His)
c.193+1870G>C
c.360G>C (p.Gln120His)
c.277+3327G>C
c.307G>C
c.*362G>C (n.*362G>C)
c.*651G>C (n.*651G>C)
c.456G>C (p.Gln152His)
n.2391G>C
Xg.153592677C>TCA519214438CCNQc.486G>A (p.Gln162=)
c.193+1870G>A
c.360G>A (p.Gln120=)
c.277+3327G>A
c.307G>A
c.*362G>A (n.*362G>A)
c.*651G>A (n.*651G>A)
c.456G>A (p.Gln152=)
n.2391G>A
Xg.153592678T>ACA415088210CCNQc.485A>T (p.Gln162Leu)
c.193+1869A>T
c.359A>T (p.Gln120Leu)
c.277+3326A>T
c.306A>T
c.*361A>T (n.*361A>T)
c.*650A>T (n.*650A>T)
c.455A>T (p.Gln152Leu)
n.2390A>T
Xg.153592678T>CCA415088212CCNQc.485A>G (p.Gln162Arg)
c.193+1869A>G
c.359A>G (p.Gln120Arg)
c.277+3326A>G
c.306A>G
c.*361A>G (n.*361A>G)
c.*650A>G (n.*650A>G)
c.455A>G (p.Gln152Arg)
n.2390A>G
Xg.153592678T>GCA415088215CCNQc.485A>C (p.Gln162Pro)
c.193+1869A>C
c.359A>C (p.Gln120Pro)
c.277+3326A>C
c.306A>C
c.*361A>C (n.*361A>C)
c.*650A>C (n.*650A>C)
c.455A>C (p.Gln152Pro)
n.2390A>C
Xg.153592679G>ACA415088223CCNQc.484C>T (p.Gln162Ter)
c.193+1868C>T
c.358C>T (p.Gln120Ter)
c.277+3325C>T
c.305C>T
c.*360C>T (n.*360C>T)
c.*649C>T (n.*649C>T)
c.454C>T (p.Gln152Ter)
n.2389C>T
Xg.153592679G>CCA415088218CCNQc.484C>G (p.Gln162Glu)
c.193+1868C>G
c.358C>G (p.Gln120Glu)
c.277+3325C>G
c.305C>G
c.*360C>G (n.*360C>G)
c.*649C>G (n.*649C>G)
c.454C>G (p.Gln152Glu)
n.2389C>G
Xg.153592679G>TCA415088220CCNQc.484C>A (p.Gln162Lys)
c.193+1868C>A
c.358C>A (p.Gln120Lys)
c.277+3325C>A
c.305C>A
c.*360C>A (n.*360C>A)
c.*649C>A (n.*649C>A)
c.454C>A (p.Gln152Lys)
n.2389C>A
Xg.153592680C>ACA415088226CCNQc.483G>T (p.Trp161Cys)
c.193+1867G>T
c.357G>T (p.Trp119Cys)
c.277+3324G>T
c.304G>T
c.*359G>T (n.*359G>T)
c.*648G>T (n.*648G>T)
c.453G>T (p.Trp151Cys)
n.2388G>T
Xg.153592680C>GCA415088229CCNQc.483G>C (p.Trp161Cys)
c.193+1867G>C
c.357G>C (p.Trp119Cys)
c.277+3324G>C
c.304G>C
c.*359G>C (n.*359G>C)
c.*648G>C (n.*648G>C)
c.453G>C (p.Trp151Cys)
n.2388G>C
Xg.153592680C>TCA415088232CCNQc.483G>A (p.Trp161Ter)
c.193+1867G>A
c.357G>A (p.Trp119Ter)
c.277+3324G>A
c.304G>A
c.*359G>A (n.*359G>A)
c.*648G>A (n.*648G>A)
c.453G>A (p.Trp151Ter)
n.2388G>A
Xg.153592681C>ACA415088234CCNQc.482G>T (p.Trp161Leu)
c.193+1866G>T
c.356G>T (p.Trp119Leu)
c.277+3323G>T
c.303G>T
c.*358G>T (n.*358G>T)
c.*647G>T (n.*647G>T)
c.452G>T (p.Trp151Leu)
n.2387G>T
Xg.153592681C>GCA415088236CCNQc.482G>C (p.Trp161Ser)
c.193+1866G>C
c.356G>C (p.Trp119Ser)
c.277+3323G>C
c.303G>C
c.*358G>C (n.*358G>C)
c.*647G>C (n.*647G>C)
c.452G>C (p.Trp151Ser)
n.2387G>C
Xg.153592681C>TCA415088238CCNQc.482G>A (p.Trp161Ter)
c.193+1866G>A
c.356G>A (p.Trp119Ter)
c.277+3323G>A
c.303G>A
c.*358G>A (n.*358G>A)
c.*647G>A (n.*647G>A)
c.452G>A (p.Trp151Ter)
n.2387G>A
Xg.153592682A>CCA415088241CCNQc.481T>G (p.Trp161Gly)
c.193+1865T>G
c.355T>G (p.Trp119Gly)
c.277+3322T>G
c.302T>G
c.*357T>G (n.*357T>G)
c.*646T>G (n.*646T>G)
c.451T>G (p.Trp151Gly)
n.2386T>G
Xg.153592682A>GCA415088244CCNQc.481T>C (p.Trp161Arg)
c.193+1865T>C
c.355T>C (p.Trp119Arg)
c.277+3322T>C
c.302T>C
c.*357T>C (n.*357T>C)
c.*646T>C (n.*646T>C)
c.451T>C (p.Trp151Arg)
n.2386T>C
Xg.153592682A>TCA415088246CCNQc.481T>A (p.Trp161Arg)
c.193+1865T>A
c.355T>A (p.Trp119Arg)
c.277+3322T>A
c.302T>A
c.*357T>A (n.*357T>A)
c.*646T>A (n.*646T>A)
c.451T>A (p.Trp151Arg)
n.2386T>A
Xg.153592683G>ACA519214461CCNQc.480C>T (p.Ser160=)
c.193+1864C>T
c.354C>T (p.Ser118=)
c.277+3321C>T
c.301C>T
c.*356C>T (n.*356C>T)
c.*645C>T (n.*645C>T)
c.450C>T (p.Ser150=)
n.2385C>T
 gnomAD v4
Xg.153592683G>CCA415088248CCNQc.480C>G (p.Ser160Arg)
c.193+1864C>G
c.354C>G (p.Ser118Arg)
c.277+3321C>G
c.301C>G
c.*356C>G (n.*356C>G)
c.*645C>G (n.*645C>G)
c.450C>G (p.Ser150Arg)
n.2385C>G
Xg.153592683G>TCA415088252CCNQc.480C>A (p.Ser160Arg)
c.193+1864C>A
c.354C>A (p.Ser118Arg)
c.277+3321C>A
c.301C>A
c.*356C>A (n.*356C>A)
c.*645C>A (n.*645C>A)
c.450C>A (p.Ser150Arg)
n.2385C>A
Xg.153592684C>ACA415088256CCNQc.479G>T (p.Ser160Ile)
c.193+1863G>T
c.353G>T (p.Ser118Ile)
c.277+3320G>T
c.300G>T
c.*355G>T (n.*355G>T)
c.*644G>T (n.*644G>T)
c.449G>T (p.Ser150Ile)
n.2384G>T
Xg.153592684C>GCA415088262CCNQc.479G>C (p.Ser160Thr)
c.193+1863G>C
c.353G>C (p.Ser118Thr)
c.277+3320G>C
c.300G>C
c.*355G>C (n.*355G>C)
c.*644G>C (n.*644G>C)
c.449G>C (p.Ser150Thr)
n.2384G>C
Xg.153592684C>TCA415088259CCNQc.479G>A (p.Ser160Asn)
c.193+1863G>A
c.353G>A (p.Ser118Asn)
c.277+3320G>A
c.300G>A
c.*355G>A (n.*355G>A)
c.*644G>A (n.*644G>A)
c.449G>A (p.Ser150Asn)
n.2384G>A
 COSMIC
Xg.153592685T>ACA415088265CCNQc.478A>T (p.Ser160Cys)
c.193+1862A>T
c.352A>T (p.Ser118Cys)
c.277+3319A>T
c.299A>T
c.*354A>T (n.*354A>T)
c.*643A>T (n.*643A>T)
c.448A>T (p.Ser150Cys)
n.2383A>T
Xg.153592685T>CCA415088276CCNQc.478A>G (p.Ser160Gly)
c.193+1862A>G
c.352A>G (p.Ser118Gly)
c.277+3319A>G
c.299A>G
c.*354A>G (n.*354A>G)
c.*643A>G (n.*643A>G)
c.448A>G (p.Ser150Gly)
n.2383A>G
Xg.153592685T>GCA415088268CCNQc.478A>C (p.Ser160Arg)
c.193+1862A>C
c.352A>C (p.Ser118Arg)
c.277+3319A>C
c.299A>C
c.*354A>C (n.*354A>C)
c.*643A>C (n.*643A>C)
c.448A>C (p.Ser150Arg)
n.2383A>C
Xg.153592686G>ACA519214479CCNQc.477C>T (p.His159=)
c.193+1861C>T
c.351C>T (p.His117=)
c.277+3318C>T
c.298C>T
c.*353C>T (n.*353C>T)
c.*642C>T (n.*642C>T)
c.447C>T (p.His149=)
n.2382C>T
 dbSNP gnomAD v4
Xg.153592686G>CCA415088279CCNQc.477C>G (p.His159Gln)
c.193+1861C>G
c.351C>G (p.His117Gln)
c.277+3318C>G
c.298C>G
c.*353C>G (n.*353C>G)
c.*642C>G (n.*642C>G)
c.447C>G (p.His149Gln)
n.2382C>G
Xg.153592686G=CA2466399779CCNQc.477C= (p.His159=)
c.193+1861C=
c.351C= (p.His117=)
c.277+3318C=
c.298C=
c.*353C= (n.*353C=)
c.*642C= (n.*642C=)
c.447C= (p.His149=)
n.2382C=
Xg.153592686G>TCA415088281CCNQc.477C>A (p.His159Gln)
c.193+1861C>A
c.351C>A (p.His117Gln)
c.277+3318C>A
c.298C>A
c.*353C>A (n.*353C>A)
c.*642C>A (n.*642C>A)
c.447C>A (p.His149Gln)
n.2382C>A
Xg.153592687T>ACA415088285CCNQc.476A>T (p.His159Leu)
c.193+1860A>T
c.350A>T (p.His117Leu)
c.277+3317A>T
c.297A>T
c.*352A>T (n.*352A>T)
c.*641A>T (n.*641A>T)
c.446A>T (p.His149Leu)
n.2381A>T
Xg.153592687T>CCA415088288CCNQc.476A>G (p.His159Arg)
c.193+1860A>G
c.350A>G (p.His117Arg)
c.277+3317A>G
c.297A>G
c.*352A>G (n.*352A>G)
c.*641A>G (n.*641A>G)
c.446A>G (p.His149Arg)
n.2381A>G
 gnomAD v4
Xg.153592687T>GCA415088291CCNQc.476A>C (p.His159Pro)
c.193+1860A>C
c.350A>C (p.His117Pro)
c.277+3317A>C
c.297A>C
c.*352A>C (n.*352A>C)
c.*641A>C (n.*641A>C)
c.446A>C (p.His149Pro)
n.2381A>C
Xg.153592688G>ACA415088294CCNQc.475C>T (p.His159Tyr)
c.193+1859C>T
c.349C>T (p.His117Tyr)
c.277+3316C>T
c.296C>T
c.*351C>T (n.*351C>T)
c.*640C>T (n.*640C>T)
c.445C>T (p.His149Tyr)
n.2380C>T
Xg.153592688G>CCA415088296CCNQc.475C>G (p.His159Asp)
c.193+1859C>G
c.349C>G (p.His117Asp)
c.277+3316C>G
c.296C>G
c.*351C>G (n.*351C>G)
c.*640C>G (n.*640C>G)
c.445C>G (p.His149Asp)
n.2380C>G
Xg.153592688G>TCA415088298CCNQc.475C>A (p.His159Asn)
c.193+1859C>A
c.349C>A (p.His117Asn)
c.277+3316C>A
c.296C>A
c.*351C>A (n.*351C>A)
c.*640C>A (n.*640C>A)
c.445C>A (p.His149Asn)
n.2380C>A
Xg.153592689G>ACA519214492CCNQc.474C>T (p.Arg158=)
c.193+1858C>T
c.348C>T (p.Arg116=)
c.277+3315C>T
c.295C>T
c.*350C>T (n.*350C>T)
c.*639C>T (n.*639C>T)
c.444C>T (p.Arg148=)
n.2379C>T
Xg.153592689G>CCA519214494CCNQc.474C>G (p.Arg158=)
c.193+1858C>G
c.348C>G (p.Arg116=)
c.277+3315C>G
c.295C>G
c.*350C>G (n.*350C>G)
c.*639C>G (n.*639C>G)
c.444C>G (p.Arg148=)
n.2379C>G
Xg.153592689G>TCA519214497CCNQc.474C>A (p.Arg158=)
c.193+1858C>A
c.348C>A (p.Arg116=)
c.277+3315C>A
c.295C>A
c.*350C>A (n.*350C>A)
c.*639C>A (n.*639C>A)
c.444C>A (p.Arg148=)
n.2379C>A
Xg.153592690C>ACA415088301CCNQc.473G>T (p.Arg158Leu)
c.193+1857G>T
c.347G>T (p.Arg116Leu)
c.277+3314G>T
c.294G>T
c.*349G>T (n.*349G>T)
c.*638G>T (n.*638G>T)
c.443G>T (p.Arg148Leu)
n.2378G>T
Xg.153592690C=CA2466399780CCNQc.473G= (p.Arg158=)
c.193+1857G=
c.347G= (p.Arg116=)
c.277+3314G=
c.294G=
c.*349G= (n.*349G=)
c.*638G= (n.*638G=)
c.443G= (p.Arg148=)
n.2378G=
Xg.153592690C>GCA415088303CCNQc.473G>C (p.Arg158Pro)
c.193+1857G>C
c.347G>C (p.Arg116Pro)
c.277+3314G>C
c.294G>C
c.*349G>C (n.*349G>C)
c.*638G>C (n.*638G>C)
c.443G>C (p.Arg148Pro)
n.2378G>C
Xg.153592690C>TCA415088305CCNQc.473G>A (p.Arg158His)
c.193+1857G>A
c.347G>A (p.Arg116His)
c.277+3314G>A
c.294G>A
c.*349G>A (n.*349G>A)
c.*638G>A (n.*638G>A)
c.443G>A (p.Arg148His)
n.2378G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.153592691G>ACA10548401CCNQc.472C>T (p.Arg158Cys)
c.193+1856C>T
c.346C>T (p.Arg116Cys)
c.277+3313C>T
c.293C>T
c.*348C>T (n.*348C>T)
c.*637C>T (n.*637C>T)
c.442C>T (p.Arg148Cys)
n.2377C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153592691G>CCA415088313CCNQc.472C>G (p.Arg158Gly)
c.193+1856C>G
c.346C>G (p.Arg116Gly)
c.277+3313C>G
c.293C>G
c.*348C>G (n.*348C>G)
c.*637C>G (n.*637C>G)
c.442C>G (p.Arg148Gly)
n.2377C>G
Xg.153592691G=CA2466399781CCNQc.472C= (p.Arg158=)
c.193+1856C=
c.346C= (p.Arg116=)
c.277+3313C=
c.293C=
c.*348C= (n.*348C=)
c.*637C= (n.*637C=)
c.442C= (p.Arg148=)
n.2377C=
Xg.153592691G>TCA415088310CCNQc.472C>A (p.Arg158Ser)
c.193+1856C>A
c.346C>A (p.Arg116Ser)
c.277+3313C>A
c.293C>A
c.*348C>A (n.*348C>A)
c.*637C>A (n.*637C>A)
c.442C>A (p.Arg148Ser)
n.2377C>A
Xg.153592692G>ACA519214512CCNQc.471C>T (p.Asn157=)
c.193+1855C>T
c.345C>T (p.Asn115=)
c.277+3312C>T
c.292C>T
c.*347C>T (n.*347C>T)
c.*636C>T (n.*636C>T)
c.441C>T (p.Asn147=)
n.2376C>T
Xg.153592692G>CCA415088315CCNQc.471C>G (p.Asn157Lys)
c.193+1855C>G
c.345C>G (p.Asn115Lys)
c.277+3312C>G
c.292C>G
c.*347C>G (n.*347C>G)
c.*636C>G (n.*636C>G)
c.441C>G (p.Asn147Lys)
n.2376C>G
Xg.153592692G>TCA415088316CCNQc.471C>A (p.Asn157Lys)
c.193+1855C>A
c.345C>A (p.Asn115Lys)
c.277+3312C>A
c.292C>A
c.*347C>A (n.*347C>A)
c.*636C>A (n.*636C>A)
c.441C>A (p.Asn147Lys)
n.2376C>A
Xg.153592693T>ACA415088320CCNQc.470A>T (p.Asn157Ile)
c.193+1854A>T
c.344A>T (p.Asn115Ile)
c.277+3311A>T
c.291A>T
c.*346A>T (n.*346A>T)
c.*635A>T (n.*635A>T)
c.440A>T (p.Asn147Ile)
n.2375A>T
Xg.153592693T>CCA415088323CCNQc.470A>G (p.Asn157Ser)
c.193+1854A>G
c.344A>G (p.Asn115Ser)
c.277+3311A>G
c.291A>G
c.*346A>G (n.*346A>G)
c.*635A>G (n.*635A>G)
c.440A>G (p.Asn147Ser)
n.2375A>G
Xg.153592693T>GCA415088325CCNQc.470A>C (p.Asn157Thr)
c.193+1854A>C
c.344A>C (p.Asn115Thr)
c.277+3311A>C
c.291A>C
c.*346A>C (n.*346A>C)
c.*635A>C (n.*635A>C)
c.440A>C (p.Asn147Thr)
n.2375A>C
Xg.153592694T>ACA415088329CCNQc.469A>T (p.Asn157Tyr)
c.193+1853A>T
c.343A>T (p.Asn115Tyr)
c.277+3310A>T
c.290A>T
c.*345A>T (n.*345A>T)
c.*634A>T (n.*634A>T)
c.439A>T (p.Asn147Tyr)
n.2374A>T
Xg.153592694T>CCA415088332CCNQc.469A>G (p.Asn157Asp)
c.193+1853A>G
c.343A>G (p.Asn115Asp)
c.277+3310A>G
c.290A>G
c.*345A>G (n.*345A>G)
c.*634A>G (n.*634A>G)
c.439A>G (p.Asn147Asp)
n.2374A>G
Xg.153592694T>GCA415088335CCNQc.469A>C (p.Asn157His)
c.193+1853A>C
c.343A>C (p.Asn115His)
c.277+3310A>C
c.290A>C
c.*345A>C (n.*345A>C)
c.*634A>C (n.*634A>C)
c.439A>C (p.Asn147His)
n.2374A>C
Xg.153592695C>ACA519214526CCNQc.468G>T (p.Leu156=)
c.193+1852G>T
c.342G>T (p.Leu114=)
c.277+3309G>T
c.289G>T
c.*344G>T (n.*344G>T)
c.*633G>T (n.*633G>T)
c.438G>T (p.Leu146=)
n.2373G>T
Xg.153592695C>GCA519214531CCNQc.468G>C (p.Leu156=)
c.193+1852G>C
c.342G>C (p.Leu114=)
c.277+3309G>C
c.289G>C
c.*344G>C (n.*344G>C)
c.*633G>C (n.*633G>C)
c.438G>C (p.Leu146=)
n.2373G>C
Xg.153592695C>TCA519214528CCNQc.468G>A (p.Leu156=)
c.193+1852G>A
c.342G>A (p.Leu114=)
c.277+3309G>A
c.289G>A
c.*344G>A (n.*344G>A)
c.*633G>A (n.*633G>A)
c.438G>A (p.Leu146=)
n.2373G>A
Xg.153592696A>CCA415088342CCNQc.467T>G (p.Leu156Arg)
c.193+1851T>G
c.341T>G (p.Leu114Arg)
c.277+3308T>G
c.288T>G
c.*343T>G (n.*343T>G)
c.*632T>G (n.*632T>G)
c.437T>G (p.Leu146Arg)
n.2372T>G
Xg.153592696A>GCA415088345CCNQc.467T>C (p.Leu156Pro)
c.193+1851T>C
c.341T>C (p.Leu114Pro)
c.277+3308T>C
c.288T>C
c.*343T>C (n.*343T>C)
c.*632T>C (n.*632T>C)
c.437T>C (p.Leu146Pro)
n.2372T>C
Xg.153592696A>TCA415088340CCNQc.467T>A (p.Leu156Gln)
c.193+1851T>A
c.341T>A (p.Leu114Gln)
c.277+3308T>A
c.288T>A
c.*343T>A (n.*343T>A)
c.*632T>A (n.*632T>A)
c.437T>A (p.Leu146Gln)
n.2372T>A
Xg.153592697G>ACA519214537CCNQc.466C>T (p.Leu156=)
c.193+1850C>T
c.340C>T (p.Leu114=)
c.277+3307C>T
c.287C>T
c.*342C>T (n.*342C>T)
c.*631C>T (n.*631C>T)
c.436C>T (p.Leu146=)
n.2371C>T
Xg.153592697G>CCA415088349CCNQc.466C>G (p.Leu156Val)
c.193+1850C>G
c.340C>G (p.Leu114Val)
c.277+3307C>G
c.287C>G
c.*342C>G (n.*342C>G)
c.*631C>G (n.*631C>G)
c.436C>G (p.Leu146Val)
n.2371C>G
Xg.153592697G=CA2466399782CCNQc.466C= (p.Leu156=)
c.193+1850C=
c.340C= (p.Leu114=)
c.277+3307C=
c.287C=
c.*342C= (n.*342C=)
c.*631C= (n.*631C=)
c.436C= (p.Leu146=)
n.2371C=
Xg.153592697G>TCA415088352CCNQc.466C>A (p.Leu156Met)
c.193+1850C>A
c.340C>A (p.Leu114Met)
c.277+3307C>A
c.287C>A
c.*342C>A (n.*342C>A)
c.*631C>A (n.*631C>A)
c.436C>A (p.Leu146Met)
n.2371C>A
 dbSNP gnomAD v2 gnomAD v4
Xg.153592698C>ACA415088354CCNQc.465G>T (p.Trp155Cys)
c.193+1849G>T
c.339G>T (p.Trp113Cys)
c.277+3306G>T
c.286G>T
c.*341G>T (n.*341G>T)
c.*630G>T (n.*630G>T)
c.435G>T (p.Trp145Cys)
n.2370G>T
 COSMIC
Xg.153592698C>GCA415088355CCNQc.465G>C (p.Trp155Cys)
c.193+1849G>C
c.339G>C (p.Trp113Cys)
c.277+3306G>C
c.286G>C
c.*341G>C (n.*341G>C)
c.*630G>C (n.*630G>C)
c.435G>C (p.Trp145Cys)
n.2370G>C
Xg.153592698C>TCA415088358CCNQc.465G>A (p.Trp155Ter)
c.193+1849G>A
c.339G>A (p.Trp113Ter)
c.277+3306G>A
c.286G>A
c.*341G>A (n.*341G>A)
c.*630G>A (n.*630G>A)
c.435G>A (p.Trp145Ter)
n.2370G>A
Xg.153592699C>ACA415088366CCNQc.464G>T (p.Trp155Leu)
c.193+1848G>T
c.338G>T (p.Trp113Leu)
c.277+3305G>T
c.285G>T
c.*340G>T (n.*340G>T)
c.*629G>T (n.*629G>T)
c.434G>T (p.Trp145Leu)
n.2369G>T
Xg.153592699C>GCA415088361CCNQc.464G>C (p.Trp155Ser)
c.193+1848G>C
c.338G>C (p.Trp113Ser)
c.277+3305G>C
c.285G>C
c.*340G>C (n.*340G>C)
c.*629G>C (n.*629G>C)
c.434G>C (p.Trp145Ser)
n.2369G>C
Xg.153592699C>TCA415088363CCNQc.464G>A (p.Trp155Ter)
c.193+1848G>A
c.338G>A (p.Trp113Ter)
c.277+3305G>A
c.285G>A
c.*340G>A (n.*340G>A)
c.*629G>A (n.*629G>A)
c.434G>A (p.Trp145Ter)
n.2369G>A
Xg.153592700A>CCA415088369CCNQc.463T>G (p.Trp155Gly)
c.193+1847T>G
c.337T>G (p.Trp113Gly)
c.277+3304T>G
c.284T>G
c.*339T>G (n.*339T>G)
c.*628T>G (n.*628T>G)
c.433T>G (p.Trp145Gly)
n.2368T>G
Xg.153592700A>GCA415088372CCNQc.463T>C (p.Trp155Arg)
c.193+1847T>C
c.337T>C (p.Trp113Arg)
c.277+3304T>C
c.284T>C
c.*339T>C (n.*339T>C)
c.*628T>C (n.*628T>C)
c.433T>C (p.Trp145Arg)
n.2368T>C
Xg.153592700A>TCA415088375CCNQc.463T>A (p.Trp155Arg)
c.193+1847T>A
c.337T>A (p.Trp113Arg)
c.277+3304T>A
c.284T>A
c.*339T>A (n.*339T>A)
c.*628T>A (n.*628T>A)
c.433T>A (p.Trp145Arg)
n.2368T>A
Xg.153592701G>ACA519214554CCNQc.462C>T (p.Asn154=)
c.193+1846C>T
c.336C>T (p.Asn112=)
c.277+3303C>T
c.283C>T
c.*338C>T (n.*338C>T)
c.*627C>T (n.*627C>T)
c.432C>T (p.Asn144=)
n.2367C>T
Xg.153592701G>CCA415088378CCNQc.462C>G (p.Asn154Lys)
c.193+1846C>G
c.336C>G (p.Asn112Lys)
c.277+3303C>G
c.283C>G
c.*338C>G (n.*338C>G)
c.*627C>G (n.*627C>G)
c.432C>G (p.Asn144Lys)
n.2367C>G
Xg.153592701G>TCA415088380CCNQc.462C>A (p.Asn154Lys)
c.193+1846C>A
c.336C>A (p.Asn112Lys)
c.277+3303C>A
c.283C>A
c.*338C>A (n.*338C>A)
c.*627C>A (n.*627C>A)
c.432C>A (p.Asn144Lys)
n.2367C>A
Xg.153592702T>ACA415088383CCNQc.461A>T (p.Asn154Ile)
c.193+1845A>T
c.335A>T (p.Asn112Ile)
c.277+3302A>T
c.282A>T
c.*337A>T (n.*337A>T)
c.*626A>T (n.*626A>T)
c.431A>T (p.Asn144Ile)
n.2366A>T
Xg.153592702T>CCA415088387CCNQc.461A>G (p.Asn154Ser)
c.193+1845A>G
c.335A>G (p.Asn112Ser)
c.277+3302A>G
c.282A>G
c.*337A>G (n.*337A>G)
c.*626A>G (n.*626A>G)
c.431A>G (p.Asn144Ser)
n.2366A>G
Xg.153592702T>GCA415088385CCNQc.461A>C (p.Asn154Thr)
c.193+1845A>C
c.335A>C (p.Asn112Thr)
c.277+3302A>C
c.282A>C
c.*337A>C (n.*337A>C)
c.*626A>C (n.*626A>C)
c.431A>C (p.Asn144Thr)
n.2366A>C
Xg.153592703T>ACA415088392CCNQc.460A>T (p.Asn154Tyr)
c.193+1844A>T
c.334A>T (p.Asn112Tyr)
c.277+3301A>T
c.281A>T
c.*336A>T (n.*336A>T)
c.*625A>T (n.*625A>T)
c.430A>T (p.Asn144Tyr)
n.2365A>T
Xg.153592703T>CCA415088401CCNQc.460A>G (p.Asn154Asp)
c.193+1844A>G
c.334A>G (p.Asn112Asp)
c.277+3301A>G
c.281A>G
c.*336A>G (n.*336A>G)
c.*625A>G (n.*625A>G)
c.430A>G (p.Asn144Asp)
n.2365A>G
 COSMIC
Xg.153592703T>GCA415088404CCNQc.460A>C (p.Asn154His)
c.193+1844A>C
c.334A>C (p.Asn112His)
c.277+3301A>C
c.281A>C
c.*336A>C (n.*336A>C)
c.*625A>C (n.*625A>C)
c.430A>C (p.Asn144His)
n.2365A>C
Xg.153592704C>ACA415088407CCNQc.459G>T (p.Gln153His)
c.193+1843G>T
c.333G>T (p.Gln111His)
c.277+3300G>T
c.280G>T
c.*335G>T (n.*335G>T)
c.*624G>T (n.*624G>T)
c.430-1G>T (n.430-1G>T)
n.2364G>T
Xg.153592704C>GCA415088409CCNQc.459G>C (p.Gln153His)
c.193+1843G>C
c.333G>C (p.Gln111His)
c.277+3300G>C
c.280G>C
c.*335G>C (n.*335G>C)
c.*624G>C (n.*624G>C)
c.430-1G>C (n.430-1G>C)
n.2364G>C
Xg.153592704C>TCA519214575CCNQc.459G>A (p.Gln153=)
c.193+1843G>A
c.333G>A (p.Gln111=)
c.277+3300G>A
c.280G>A
c.*335G>A (n.*335G>A)
c.*624G>A (n.*624G>A)
c.430-1G>A (n.430-1G>A)
n.2364G>A
Xg.153592705T>ACA415088412CCNQc.458A>T (p.Gln153Leu)
c.193+1842A>T
c.332A>T (p.Gln111Leu)
c.277+3299A>T
c.279A>T
c.*334A>T (n.*334A>T)
c.*623A>T (n.*623A>T)
c.430-2A>T (n.430-2A>T)
n.2363A>T
Xg.153592705T>CCA415088413CCNQc.458A>G (p.Gln153Arg)
c.193+1842A>G
c.332A>G (p.Gln111Arg)
c.277+3299A>G
c.279A>G
c.*334A>G (n.*334A>G)
c.*623A>G (n.*623A>G)
c.430-2A>G (n.430-2A>G)
n.2363A>G
Xg.153592705T>GCA415088416CCNQc.458A>C (p.Gln153Pro)
c.193+1842A>C
c.332A>C (p.Gln111Pro)
c.277+3299A>C
c.279A>C
c.*334A>C (n.*334A>C)
c.*623A>C (n.*623A>C)
c.430-2A>C (n.430-2A>C)
n.2363A>C
Xg.153592706G>ACA415088417CCNQc.457C>T (p.Gln153Ter)
c.193+1841C>T
c.331C>T (p.Gln111Ter)
c.277+3298C>T
c.278C>T
c.*333C>T (n.*333C>T)
c.*622C>T (n.*622C>T)
c.430-3C>T (n.430-3C>T)
n.2362C>T
 COSMIC
Xg.153592706G>CCA415088419CCNQc.457C>G (p.Gln153Glu)
c.193+1841C>G
c.331C>G (p.Gln111Glu)
c.277+3298C>G
c.278C>G
c.*333C>G (n.*333C>G)
c.*622C>G (n.*622C>G)
c.430-3C>G (n.430-3C>G)
n.2362C>G
Xg.153592706G>TCA415088422CCNQc.457C>A (p.Gln153Lys)
c.193+1841C>A
c.331C>A (p.Gln111Lys)
c.277+3298C>A
c.278C>A
c.*333C>A (n.*333C>A)
c.*622C>A (n.*622C>A)
c.430-3C>A (n.430-3C>A)
n.2362C>A
Xg.153592707G>ACA519214585CCNQc.456C>T (p.Leu152=)
c.193+1840C>T
c.330C>T (p.Leu110=)
c.277+3297C>T
c.277C>T
c.*332C>T (n.*332C>T)
c.*621C>T (n.*621C>T)
c.430-4C>T (n.430-4C>T)
n.2361C>T
Xg.153592707G>CCA519214586CCNQc.456C>G (p.Leu152=)
c.193+1840C>G
c.330C>G (p.Leu110=)
c.277+3297C>G
c.277C>G
c.*332C>G (n.*332C>G)
c.*621C>G (n.*621C>G)
c.430-4C>G (n.430-4C>G)
n.2361C>G
Xg.153592707G>TCA519214588CCNQc.456C>A (p.Leu152=)
c.193+1840C>A
c.330C>A (p.Leu110=)
c.277+3297C>A
c.277C>A
c.*332C>A (n.*332C>A)
c.*621C>A (n.*621C>A)
c.430-4C>A (n.430-4C>A)
n.2361C>A
Xg.153592708A>CCA415088427CCNQc.455T>G (p.Leu152Arg)
c.193+1839T>G
c.329T>G (p.Leu110Arg)
c.277+3296T>G
c.276T>G
c.*331T>G (n.*331T>G)
c.*620T>G (n.*620T>G)
c.430-5T>G (n.430-5T>G)
n.2360T>G
Xg.153592708A>GCA415088430CCNQc.455T>C (p.Leu152Pro)
c.193+1839T>C
c.329T>C (p.Leu110Pro)
c.277+3296T>C
c.276T>C
c.*331T>C (n.*331T>C)
c.*620T>C (n.*620T>C)
c.430-5T>C (n.430-5T>C)
n.2360T>C
Xg.153592708A>TCA415088425CCNQc.455T>A (p.Leu152His)
c.193+1839T>A
c.329T>A (p.Leu110His)
c.277+3296T>A
c.276T>A
c.*331T>A (n.*331T>A)
c.*620T>A (n.*620T>A)
c.430-5T>A (n.430-5T>A)
n.2360T>A
Xg.153592709G>ACA415088434CCNQc.454C>T (p.Leu152Phe)
c.193+1838C>T
c.328C>T (p.Leu110Phe)
c.277+3295C>T
c.275C>T
c.*330C>T (n.*330C>T)
c.*619C>T (n.*619C>T)
c.430-6C>T (n.430-6C>T)
n.2359C>T
Xg.153592709G>CCA415088440CCNQc.454C>G (p.Leu152Val)
c.193+1838C>G
c.328C>G (p.Leu110Val)
c.277+3295C>G
c.275C>G
c.*330C>G (n.*330C>G)
c.*619C>G (n.*619C>G)
c.430-6C>G (n.430-6C>G)
n.2359C>G
Xg.153592709G>TCA415088437CCNQc.454C>A (p.Leu152Ile)
c.193+1838C>A
c.328C>A (p.Leu110Ile)
c.277+3295C>A
c.275C>A
c.*330C>A (n.*330C>A)
c.*619C>A (n.*619C>A)
c.430-6C>A (n.430-6C>A)
n.2359C>A
 COSMIC
Xg.153592710G>ACA519214599CCNQc.453C>T (p.Ser151=)
c.193+1837C>T
c.327C>T (p.Ser109=)
c.277+3294C>T
c.274C>T
c.*329C>T (n.*329C>T)
c.*618C>T (n.*618C>T)
c.430-7C>T (n.430-7C>T)
n.2358C>T
 ClinVar dbSNP gnomAD v4
Xg.153592710G>CCA519214602CCNQc.453C>G (p.Ser151=)
c.193+1837C>G
c.327C>G (p.Ser109=)
c.277+3294C>G
c.274C>G
c.*329C>G (n.*329C>G)
c.*618C>G (n.*618C>G)
c.430-7C>G (n.430-7C>G)
n.2358C>G
 dbSNP gnomAD v2 gnomAD v4
Xg.153592710G=CA2466399783CCNQc.453C= (p.Ser151=)
c.193+1837C=
c.327C= (p.Ser109=)
c.277+3294C=
c.274C=
c.*329C= (n.*329C=)
c.*618C= (n.*618C=)
c.430-7C= (n.430-7C=)
n.2358C=
Xg.153592710G>TCA519214605CCNQc.453C>A (p.Ser151=)
c.193+1837C>A
c.327C>A (p.Ser109=)
c.277+3294C>A
c.274C>A
c.*329C>A (n.*329C>A)
c.*618C>A (n.*618C>A)
c.430-7C>A (n.430-7C>A)
n.2358C>A
Xg.153592711G>ACA415088449CCNQc.452C>T (p.Ser151Phe)
c.193+1836C>T
c.326C>T (p.Ser109Phe)
c.277+3293C>T
c.273C>T
c.*328C>T (n.*328C>T)
c.*617C>T (n.*617C>T)
c.430-8C>T (n.430-8C>T)
n.2357C>T
 COSMIC
Xg.153592711G>CCA415088452CCNQc.452C>G (p.Ser151Cys)
c.193+1836C>G
c.326C>G (p.Ser109Cys)
c.277+3293C>G
c.273C>G
c.*328C>G (n.*328C>G)
c.*617C>G (n.*617C>G)
c.430-8C>G (n.430-8C>G)
n.2357C>G
Xg.153592711G>TCA415088455CCNQc.452C>A (p.Ser151Tyr)
c.193+1836C>A
c.326C>A (p.Ser109Tyr)
c.277+3293C>A
c.273C>A
c.*328C>A (n.*328C>A)
c.*617C>A (n.*617C>A)
c.430-8C>A (n.430-8C>A)
n.2357C>A
Xg.153592712A>CCA415088466CCNQc.451T>G (p.Ser151Ala)
c.193+1835T>G
c.325T>G (p.Ser109Ala)
c.277+3292T>G
c.272T>G
c.*327T>G (n.*327T>G)
c.*616T>G (n.*616T>G)
c.430-9T>G (n.430-9T>G)
n.2356T>G
Xg.153592712A>GCA415088471CCNQc.451T>C (p.Ser151Pro)
c.193+1835T>C
c.325T>C (p.Ser109Pro)
c.277+3292T>C
c.272T>C
c.*327T>C (n.*327T>C)
c.*616T>C (n.*616T>C)
c.430-9T>C (n.430-9T>C)
n.2356T>C
Xg.153592712A>TCA415088474CCNQc.451T>A (p.Ser151Thr)
c.193+1835T>A
c.325T>A (p.Ser109Thr)
c.277+3292T>A
c.272T>A
c.*327T>A (n.*327T>A)
c.*616T>A (n.*616T>A)
c.430-9T>A (n.430-9T>A)
n.2356T>A
Xg.153592713A>CCA519214631CCNQc.450T>G (p.Val150=)
c.193+1834T>G
c.324T>G (p.Val108=)
c.277+3291T>G
c.271T>G
c.*326T>G (n.*326T>G)
c.*615T>G (n.*615T>G)
c.430-10T>G (n.430-10T>G)
n.2355T>G
Xg.153592713A>GCA519214634CCNQc.450T>C (p.Val150=)
c.193+1834T>C
c.324T>C (p.Val108=)
c.277+3291T>C
c.271T>C
c.*326T>C (n.*326T>C)
c.*615T>C (n.*615T>C)
c.430-10T>C (n.430-10T>C)
n.2355T>C
Xg.153592713A>TCA519214636CCNQc.450T>A (p.Val150=)
c.193+1834T>A
c.324T>A (p.Val108=)
c.277+3291T>A
c.271T>A
c.*326T>A (n.*326T>A)
c.*615T>A (n.*615T>A)
c.430-10T>A (n.430-10T>A)
n.2355T>A
Xg.153592714A>CCA415088476CCNQc.449T>G (p.Val150Gly)
c.193+1833T>G
c.323T>G (p.Val108Gly)
c.277+3290T>G
c.270T>G
c.*325T>G (n.*325T>G)
c.*614T>G (n.*614T>G)
c.430-11T>G (n.430-11T>G)
n.2354T>G
Xg.153592714A>GCA415088479CCNQc.449T>C (p.Val150Ala)
c.193+1833T>C
c.323T>C (p.Val108Ala)
c.277+3290T>C
c.270T>C
c.*325T>C (n.*325T>C)
c.*614T>C (n.*614T>C)
c.430-11T>C (n.430-11T>C)
n.2354T>C
Xg.153592714A>TCA415088481CCNQc.449T>A (p.Val150Asp)
c.193+1833T>A
c.323T>A (p.Val108Asp)
c.277+3290T>A
c.270T>A
c.*325T>A (n.*325T>A)
c.*614T>A (n.*614T>A)
c.430-11T>A (n.430-11T>A)
n.2354T>A
Xg.153592715C>ACA415088485CCNQc.448G>T (p.Val150Phe)
c.193+1832G>T
c.322G>T (p.Val108Phe)
c.277+3289G>T
c.269G>T
c.*324G>T (n.*324G>T)
c.*613G>T (n.*613G>T)
c.430-12G>T (n.430-12G>T)
n.2353G>T
Xg.153592715C>GCA415088488CCNQc.448G>C (p.Val150Leu)
c.193+1832G>C
c.322G>C (p.Val108Leu)
c.277+3289G>C
c.269G>C
c.*324G>C (n.*324G>C)
c.*613G>C (n.*613G>C)
c.430-12G>C (n.430-12G>C)
n.2353G>C
 gnomAD v4
Xg.153592715C>TCA415088491CCNQc.448G>A (p.Val150Ile)
c.193+1832G>A
c.322G>A (p.Val108Ile)
c.277+3289G>A
c.269G>A
c.*324G>A (n.*324G>A)
c.*613G>A (n.*613G>A)
c.430-12G>A (n.430-12G>A)
n.2353G>A
Xg.153592716delCA2579728655CCNQc.448del (p.Val150PhefsTer7)
c.193+1832del
c.322del (p.Val108PhefsTer7)
c.277+3289del
c.269del
c.*324del (n.*324del)
c.*613del (n.*613del)
c.430-12del (n.430-12del)
n.2353del
Xg.153592716C>ACA519214669CCNQc.447G>T (p.Leu149=)
c.193+1831G>T
c.321G>T (p.Leu107=)
c.277+3288G>T
c.268G>T
c.*323G>T (n.*323G>T)
c.*612G>T (n.*612G>T)
c.430-13G>T (n.430-13G>T)
n.2352G>T
Xg.153592716C>GCA519214671CCNQc.447G>C (p.Leu149=)
c.193+1831G>C
c.321G>C (p.Leu107=)
c.277+3288G>C
c.268G>C
c.*323G>C (n.*323G>C)
c.*612G>C (n.*612G>C)
c.430-13G>C (n.430-13G>C)
n.2352G>C
Xg.153592716C>TCA519214674CCNQc.447G>A (p.Leu149=)
c.193+1831G>A
c.321G>A (p.Leu107=)
c.277+3288G>A
c.268G>A
c.*323G>A (n.*323G>A)
c.*612G>A (n.*612G>A)
c.430-13G>A (n.430-13G>A)
n.2352G>A
Xg.153592717A>CCA415088499CCNQc.446T>G (p.Leu149Arg)
c.193+1830T>G
c.320T>G (p.Leu107Arg)
c.277+3287T>G
c.267T>G
c.*322T>G (n.*322T>G)
c.*611T>G (n.*611T>G)
c.430-14T>G (n.430-14T>G)
n.2351T>G
Xg.153592717A>GCA415088497CCNQc.446T>C (p.Leu149Pro)
c.193+1830T>C
c.320T>C (p.Leu107Pro)
c.277+3287T>C
c.267T>C
c.*322T>C (n.*322T>C)
c.*611T>C (n.*611T>C)
c.430-14T>C (n.430-14T>C)
n.2351T>C
Xg.153592717A>TCA415088494CCNQc.446T>A (p.Leu149Gln)
c.193+1830T>A
c.320T>A (p.Leu107Gln)
c.277+3287T>A
c.267T>A
c.*322T>A (n.*322T>A)
c.*611T>A (n.*611T>A)
c.430-14T>A (n.430-14T>A)
n.2351T>A
Xg.153592718G>ACA10548402CCNQc.445C>T (p.Leu149=)
c.193+1829C>T
c.319C>T (p.Leu107=)
c.277+3286C>T
c.266C>T
c.*321C>T (n.*321C>T)
c.*610C>T (n.*610C>T)
c.430-15C>T (n.430-15C>T)
n.2350C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153592718G>CCA415088505CCNQc.445C>G (p.Leu149Val)
c.193+1829C>G
c.319C>G (p.Leu107Val)
c.277+3286C>G
c.266C>G
c.*321C>G (n.*321C>G)
c.*610C>G (n.*610C>G)
c.430-15C>G (n.430-15C>G)
n.2350C>G
 dbSNP gnomAD v4
Xg.153592718G=CA2466399784CCNQc.445C= (p.Leu149=)
c.193+1829C=
c.319C= (p.Leu107=)
c.277+3286C=
c.266C=
c.*321C= (n.*321C=)
c.*610C= (n.*610C=)
c.430-15C= (n.430-15C=)
n.2350C=
Xg.153592718G>TCA415088508CCNQc.445C>A (p.Leu149Met)
c.193+1829C>A
c.319C>A (p.Leu107Met)
c.277+3286C>A
c.266C>A
c.*321C>A (n.*321C>A)
c.*610C>A (n.*610C>A)
c.430-15C>A (n.430-15C>A)
n.2350C>A
Xg.153592719G>ACA519214687CCNQc.444C>T (p.Tyr148=)
c.193+1828C>T
c.318C>T (p.Tyr106=)
c.277+3285C>T
c.265C>T
c.*320C>T (n.*320C>T)
c.*609C>T (n.*609C>T)
c.430-16C>T (n.430-16C>T)
n.2349C>T
Xg.153592719G>CCA415088515CCNQc.444C>G (p.Tyr148Ter)
c.193+1828C>G
c.318C>G (p.Tyr106Ter)
c.277+3285C>G
c.265C>G
c.*320C>G (n.*320C>G)
c.*609C>G (n.*609C>G)
c.430-16C>G (n.430-16C>G)
n.2349C>G
Xg.153592719G>TCA415088516CCNQc.444C>A (p.Tyr148Ter)
c.193+1828C>A
c.318C>A (p.Tyr106Ter)
c.277+3285C>A
c.265C>A
c.*320C>A (n.*320C>A)
c.*609C>A (n.*609C>A)
c.430-16C>A (n.430-16C>A)
n.2349C>A
Xg.153592720T>ACA415088519CCNQc.443A>T (p.Tyr148Phe)
c.193+1827A>T
c.317A>T (p.Tyr106Phe)
c.277+3284A>T
c.264A>T
c.*319A>T (n.*319A>T)
c.*608A>T (n.*608A>T)
c.430-17A>T (n.430-17A>T)
n.2348A>T
Xg.153592720T>CCA415088522CCNQc.443A>G (p.Tyr148Cys)
c.193+1827A>G
c.317A>G (p.Tyr106Cys)
c.277+3284A>G
c.264A>G
c.*319A>G (n.*319A>G)
c.*608A>G (n.*608A>G)
c.430-17A>G (n.430-17A>G)
n.2348A>G
Xg.153592720T>GCA415088524CCNQc.443A>C (p.Tyr148Ser)
c.193+1827A>C
c.317A>C (p.Tyr106Ser)
c.277+3284A>C
c.264A>C
c.*319A>C (n.*319A>C)
c.*608A>C (n.*608A>C)
c.430-17A>C (n.430-17A>C)
n.2348A>C
Xg.153592721A=CA2466399785CCNQc.442T= (p.Tyr148=)
c.193+1826T=
c.316T= (p.Tyr106=)
c.277+3283T=
c.263T=
c.*318T= (n.*318T=)
c.*607T= (n.*607T=)
c.430-18T= (n.430-18T=)
n.2347T=
Xg.153592721A>CCA415088528CCNQc.442T>G (p.Tyr148Asp)
c.193+1826T>G
c.316T>G (p.Tyr106Asp)
c.277+3283T>G
c.263T>G
c.*318T>G (n.*318T>G)
c.*607T>G (n.*607T>G)
c.430-18T>G (n.430-18T>G)
n.2347T>G
Xg.153592721A>GCA415088531CCNQc.442T>C (p.Tyr148His)
c.193+1826T>C
c.316T>C (p.Tyr106His)
c.277+3283T>C
c.263T>C
c.*318T>C (n.*318T>C)
c.*607T>C (n.*607T>C)
c.430-18T>C (n.430-18T>C)
n.2347T>C
 dbSNP gnomAD v3 gnomAD v4
Xg.153592721A>TCA415088533CCNQc.442T>A (p.Tyr148Asn)
c.193+1826T>A
c.316T>A (p.Tyr106Asn)
c.277+3283T>A
c.263T>A
c.*318T>A (n.*318T>A)
c.*607T>A (n.*607T>A)
c.430-18T>A (n.430-18T>A)
n.2347T>A
Xg.153592722G>ACA519214708CCNQc.441C>T (p.His147=)
c.193+1825C>T
c.315C>T (p.His105=)
c.277+3282C>T
c.262C>T
c.*317C>T (n.*317C>T)
c.*606C>T (n.*606C>T)
c.430-19C>T (n.430-19C>T)
n.2346C>T
 gnomAD v4
Xg.153592722G>CCA415088542CCNQc.441C>G (p.His147Gln)
c.193+1825C>G
c.315C>G (p.His105Gln)
c.277+3282C>G
c.262C>G
c.*317C>G (n.*317C>G)
c.*606C>G (n.*606C>G)
c.430-19C>G (n.430-19C>G)
n.2346C>G
Xg.153592722G>TCA415088544CCNQc.441C>A (p.His147Gln)
c.193+1825C>A
c.315C>A (p.His105Gln)
c.277+3282C>A
c.262C>A
c.*317C>A (n.*317C>A)
c.*606C>A (n.*606C>A)
c.430-19C>A (n.430-19C>A)
n.2346C>A
 gnomAD v4
Xg.153592723T>ACA415088550CCNQc.440A>T (p.His147Leu)
c.193+1824A>T
c.314A>T (p.His105Leu)
c.277+3281A>T
c.261A>T
c.*316A>T (n.*316A>T)
c.*605A>T (n.*605A>T)
c.430-20A>T (n.430-20A>T)
n.2345A>T
Xg.153592723T>CCA415088553CCNQc.440A>G (p.His147Arg)
c.193+1824A>G
c.314A>G (p.His105Arg)
c.277+3281A>G
c.261A>G
c.*316A>G (n.*316A>G)
c.*605A>G (n.*605A>G)
c.430-20A>G (n.430-20A>G)
n.2345A>G
Xg.153592723T>GCA415088547CCNQc.440A>C (p.His147Pro)
c.193+1824A>C
c.314A>C (p.His105Pro)
c.277+3281A>C
c.261A>C
c.*316A>C (n.*316A>C)
c.*605A>C (n.*605A>C)
c.430-20A>C (n.430-20A>C)
n.2345A>C
Xg.153592724G>ACA415088555CCNQc.439C>T (p.His147Tyr)
c.193+1823C>T
c.313C>T (p.His105Tyr)
c.277+3280C>T
c.260C>T
c.*315C>T (n.*315C>T)
c.*604C>T (n.*604C>T)
c.430-21C>T (n.430-21C>T)
n.2344C>T
Xg.153592724G>CCA415088558CCNQc.439C>G (p.His147Asp)
c.193+1823C>G
c.313C>G (p.His105Asp)
c.277+3280C>G
c.260C>G
c.*315C>G (n.*315C>G)
c.*604C>G (n.*604C>G)
c.430-21C>G (n.430-21C>G)
n.2344C>G
Xg.153592724G>TCA415088559CCNQc.439C>A (p.His147Asn)
c.193+1823C>A
c.313C>A (p.His105Asn)
c.277+3280C>A
c.260C>A
c.*315C>A (n.*315C>A)
c.*604C>A (n.*604C>A)
c.430-21C>A (n.430-21C>A)
n.2344C>A
Xg.153592725G>ACA519214742CCNQc.438C>T (p.Leu146=)
c.193+1822C>T
c.312C>T (p.Leu104=)
c.277+3279C>T
c.259C>T
c.*314C>T (n.*314C>T)
c.*603C>T (n.*603C>T)
c.430-22C>T (n.430-22C>T)
n.2343C>T
 dbSNP
Xg.153592725G>CCA519214746CCNQc.438C>G (p.Leu146=)
c.193+1822C>G
c.312C>G (p.Leu104=)
c.277+3279C>G
c.259C>G
c.*314C>G (n.*314C>G)
c.*603C>G (n.*603C>G)
c.430-22C>G (n.430-22C>G)
n.2343C>G
Xg.153592725G=CA2466399786CCNQc.438C= (p.Leu146=)
c.193+1822C=
c.312C= (p.Leu104=)
c.277+3279C=
c.259C=
c.*314C= (n.*314C=)
c.*603C= (n.*603C=)
c.430-22C= (n.430-22C=)
n.2343C=
Xg.153592725G>TCA519214740CCNQc.438C>A (p.Leu146=)
c.193+1822C>A
c.312C>A (p.Leu104=)
c.277+3279C>A
c.259C>A
c.*314C>A (n.*314C>A)
c.*603C>A (n.*603C>A)
c.430-22C>A (n.430-22C>A)
n.2343C>A
 gnomAD v4
Xg.153592726A>CCA415088564CCNQc.437T>G (p.Leu146Arg)
c.193+1821T>G
c.311T>G (p.Leu104Arg)
c.277+3278T>G
c.258T>G
c.*313T>G (n.*313T>G)
c.*602T>G (n.*602T>G)
c.430-23T>G (n.430-23T>G)
n.2342T>G
Xg.153592726A>GCA415088566CCNQc.437T>C (p.Leu146Pro)
c.193+1821T>C
c.311T>C (p.Leu104Pro)
c.277+3278T>C
c.258T>C
c.*313T>C (n.*313T>C)
c.*602T>C (n.*602T>C)
c.430-23T>C (n.430-23T>C)
n.2342T>C
Xg.153592726A>TCA415088569CCNQc.437T>A (p.Leu146His)
c.193+1821T>A
c.311T>A (p.Leu104His)
c.277+3278T>A
c.258T>A
c.*313T>A (n.*313T>A)
c.*602T>A (n.*602T>A)
c.430-23T>A (n.430-23T>A)
n.2342T>A
Xg.153592727G>ACA415088572CCNQc.436C>T (p.Leu146Phe)
c.193+1820C>T
c.310C>T (p.Leu104Phe)
c.277+3277C>T
c.257C>T
c.*312C>T (n.*312C>T)
c.*601C>T (n.*601C>T)
c.430-24C>T (n.430-24C>T)
n.2341C>T
Xg.153592727G>CCA415088575CCNQc.436C>G (p.Leu146Val)
c.193+1820C>G
c.310C>G (p.Leu104Val)
c.277+3277C>G
c.257C>G
c.*312C>G (n.*312C>G)
c.*601C>G (n.*601C>G)
c.430-24C>G (n.430-24C>G)
n.2341C>G
Xg.153592727G>TCA415088578CCNQc.436C>A (p.Leu146Ile)
c.193+1820C>A
c.310C>A (p.Leu104Ile)
c.277+3277C>A
c.257C>A
c.*312C>A (n.*312C>A)
c.*601C>A (n.*601C>A)
c.430-24C>A (n.430-24C>A)
n.2341C>A
Xg.153592728C>ACA519214761CCNQc.435G>T (p.Leu145=)
c.193+1819G>T
c.309G>T (p.Leu103=)
c.277+3276G>T
c.256G>T
c.*311G>T (n.*311G>T)
c.*600G>T (n.*600G>T)
c.430-25G>T (n.430-25G>T)
n.2340G>T
 gnomAD v4
Xg.153592728C>GCA519214762CCNQc.435G>C (p.Leu145=)
c.193+1819G>C
c.309G>C (p.Leu103=)
c.277+3276G>C
c.256G>C
c.*311G>C (n.*311G>C)
c.*600G>C (n.*600G>C)
c.430-25G>C (n.430-25G>C)
n.2340G>C
Xg.153592728C>TCA519214764CCNQc.435G>A (p.Leu145=)
c.193+1819G>A
c.309G>A (p.Leu103=)
c.277+3276G>A
c.256G>A
c.*311G>A (n.*311G>A)
c.*600G>A (n.*600G>A)
c.430-25G>A (n.430-25G>A)
n.2340G>A

Number of alleles fetched