Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.22114468_22114469dupCA915950852PHEXc.1181_1182dup (p.Thr395GlyfsTer13)
n.858_859dup
c.1184_1185dup (p.Thr396GlyfsTer13)
c.428_429dup (p.Thr144GlyfsTer13)
c.77_78dup (p.Thr27GlyfsTer13)
c.893_894dup (p.Thr299GlyfsTer13)
n.1863_1864dup
 ClinVar dbSNP
Xg.22114469delCA2573158528PHEXc.1182del (p.Thr395ProfsTer12)
n.859del
c.1185del (p.Thr396ProfsTer12)
c.429del (p.Thr144ProfsTer12)
c.78del (p.Thr27ProfsTer12)
c.894del (p.Thr299ProfsTer12)
n.1864del
 ClinVar dbSNP
Xg.22114467G>ACA412573315PHEXc.1180G>A (p.Gly394Arg)
n.857G>A
c.1183G>A (p.Gly395Arg)
c.427G>A (p.Gly143Arg)
c.76G>A (p.Gly26Arg)
c.892G>A (p.Gly298Arg)
n.1862G>A
Xg.22114467G>CCA412573316PHEXc.1180G>C (p.Gly394Arg)
n.857G>C
c.1183G>C (p.Gly395Arg)
c.427G>C (p.Gly143Arg)
c.76G>C (p.Gly26Arg)
c.892G>C (p.Gly298Arg)
n.1862G>C
Xg.22114467G>TCA412573317PHEXc.1180G>T (p.Gly394Trp)
n.857G>T
c.1183G>T (p.Gly395Trp)
c.427G>T (p.Gly143Trp)
c.76G>T (p.Gly26Trp)
c.892G>T (p.Gly298Trp)
n.1862G>T
Xg.22114468G>ACA412573318PHEXc.1181G>A (p.Gly394Glu)
n.858G>A
c.1184G>A (p.Gly395Glu)
c.428G>A (p.Gly143Glu)
c.77G>A (p.Gly26Glu)
c.893G>A (p.Gly298Glu)
n.1863G>A
 gnomAD v4
Xg.22114468G>CCA412573319PHEXc.1181G>C (p.Gly394Ala)
n.858G>C
c.1184G>C (p.Gly395Ala)
c.428G>C (p.Gly143Ala)
c.77G>C (p.Gly26Ala)
c.893G>C (p.Gly298Ala)
n.1863G>C
Xg.22114468G>TCA412573320PHEXc.1181G>T (p.Gly394Val)
n.858G>T
c.1184G>T (p.Gly395Val)
c.428G>T (p.Gly143Val)
c.77G>T (p.Gly26Val)
c.893G>T (p.Gly298Val)
n.1863G>T
Xg.22114469G>ACA515424605PHEXc.1182G>A (p.Gly394=)
n.859G>A
c.1185G>A (p.Gly395=)
c.429G>A (p.Gly143=)
c.78G>A (p.Gly26=)
c.894G>A (p.Gly298=)
n.1864G>A
Xg.22114469G>CCA10368200PHEXc.1182G>C (p.Gly394=)
n.859G>C
c.1185G>C (p.Gly395=)
c.429G>C (p.Gly143=)
c.78G>C (p.Gly26=)
c.894G>C (p.Gly298=)
n.1864G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.22114469G=CA2419174831PHEXc.1182G= (p.Gly394=)
n.859G=
c.1185G= (p.Gly395=)
c.429G= (p.Gly143=)
c.78G= (p.Gly26=)
c.894G= (p.Gly298=)
n.1864G=
Xg.22114469G>TCA515424607PHEXc.1182G>T (p.Gly394=)
n.859G>T
c.1185G>T (p.Gly395=)
c.429G>T (p.Gly143=)
c.78G>T (p.Gly26=)
c.894G>T (p.Gly298=)
n.1864G>T
Xg.22114470A=CA2419174832PHEXc.1183A= (p.Thr395=)
n.860A=
c.1186A= (p.Thr396=)
c.430A= (p.Thr144=)
c.79A= (p.Thr27=)
c.895A= (p.Thr299=)
n.1865A=
Xg.22114470A>CCA412573323PHEXc.1183A>C (p.Thr395Pro)
n.860A>C
c.1186A>C (p.Thr396Pro)
c.430A>C (p.Thr144Pro)
c.79A>C (p.Thr27Pro)
c.895A>C (p.Thr299Pro)
n.1865A>C
Xg.22114470A>GCA412573321PHEXc.1183A>G (p.Thr395Ala)
n.860A>G
c.1186A>G (p.Thr396Ala)
c.430A>G (p.Thr144Ala)
c.79A>G (p.Thr27Ala)
c.895A>G (p.Thr299Ala)
n.1865A>G
 dbSNP
Xg.22114470A>TCA412573322PHEXc.1183A>T (p.Thr395Ser)
n.860A>T
c.1186A>T (p.Thr396Ser)
c.430A>T (p.Thr144Ser)
c.79A>T (p.Thr27Ser)
c.895A>T (p.Thr299Ser)
n.1865A>T
Xg.22114471C>ACA412573324PHEXc.1184C>A (p.Thr395Asn)
n.861C>A
c.1187C>A (p.Thr396Asn)
c.431C>A (p.Thr144Asn)
c.80C>A (p.Thr27Asn)
c.896C>A (p.Thr299Asn)
n.1866C>A
Xg.22114471C>GCA412573325PHEXc.1184C>G (p.Thr395Ser)
n.861C>G
c.1187C>G (p.Thr396Ser)
c.431C>G (p.Thr144Ser)
c.80C>G (p.Thr27Ser)
c.896C>G (p.Thr299Ser)
n.1866C>G
Xg.22114471C>TCA412573326PHEXc.1184C>T (p.Thr395Ile)
n.861C>T
c.1187C>T (p.Thr396Ile)
c.431C>T (p.Thr144Ile)
c.80C>T (p.Thr27Ile)
c.896C>T (p.Thr299Ile)
n.1866C>T
 COSMIC COSMIC
Xg.22114472C>ACA515424612PHEXc.1185C>A (p.Thr395=)
n.862C>A
c.1188C>A (p.Thr396=)
c.432C>A (p.Thr144=)
c.81C>A (p.Thr27=)
c.897C>A (p.Thr299=)
n.1867C>A
 gnomAD v4
Xg.22114472C=CA2419174833PHEXc.1185C= (p.Thr395=)
n.862C=
c.1188C= (p.Thr396=)
c.432C= (p.Thr144=)
c.81C= (p.Thr27=)
c.897C= (p.Thr299=)
n.1867C=
Xg.22114472C>GCA515424614PHEXc.1185C>G (p.Thr395=)
n.862C>G
c.1188C>G (p.Thr396=)
c.432C>G (p.Thr144=)
c.81C>G (p.Thr27=)
c.897C>G (p.Thr299=)
n.1867C>G
 dbSNP gnomAD v3 gnomAD v4 COSMIC
Xg.22114472C>TCA515424616PHEXc.1185C>T (p.Thr395=)
n.862C>T
c.1188C>T (p.Thr396=)
c.432C>T (p.Thr144=)
c.81C>T (p.Thr27=)
c.897C>T (p.Thr299=)
n.1867C>T
Xg.22114473A>CCA412573327PHEXc.1186A>C (p.Thr396Pro)
n.863A>C
c.1189A>C (p.Thr397Pro)
c.433A>C (p.Thr145Pro)
c.82A>C (p.Thr28Pro)
c.898A>C (p.Thr300Pro)
n.1868A>C
Xg.22114473A>GCA412573328PHEXc.1186A>G (p.Thr396Ala)
n.863A>G
c.1189A>G (p.Thr397Ala)
c.433A>G (p.Thr145Ala)
c.82A>G (p.Thr28Ala)
c.898A>G (p.Thr300Ala)
n.1868A>G
Xg.22114473A>TCA412573329PHEXc.1186A>T (p.Thr396Ser)
n.863A>T
c.1189A>T (p.Thr397Ser)
c.433A>T (p.Thr145Ser)
c.82A>T (p.Thr28Ser)
c.898A>T (p.Thr300Ser)
n.1868A>T
Xg.22114474C>ACA412573330PHEXc.1187C>A (p.Thr396Lys)
n.864C>A
c.1190C>A (p.Thr397Lys)
c.434C>A (p.Thr145Lys)
c.83C>A (p.Thr28Lys)
c.899C>A (p.Thr300Lys)
n.1869C>A
 gnomAD v4
Xg.22114474C>GCA412573331PHEXc.1187C>G (p.Thr396Arg)
n.864C>G
c.1190C>G (p.Thr397Arg)
c.434C>G (p.Thr145Arg)
c.83C>G (p.Thr28Arg)
c.899C>G (p.Thr300Arg)
n.1869C>G
Xg.22114474C>TCA412573332PHEXc.1187C>T (p.Thr396Ile)
n.864C>T
c.1190C>T (p.Thr397Ile)
c.434C>T (p.Thr145Ile)
c.83C>T (p.Thr28Ile)
c.899C>T (p.Thr300Ile)
n.1869C>T
Xg.22114475A>CCA515424623PHEXc.1188A>C (p.Thr396=)
n.865A>C
c.1191A>C (p.Thr397=)
c.435A>C (p.Thr145=)
c.84A>C (p.Thr28=)
c.900A>C (p.Thr300=)
n.1870A>C
Xg.22114475A>GCA515424624PHEXc.1188A>G (p.Thr396=)
n.865A>G
c.1191A>G (p.Thr397=)
c.435A>G (p.Thr145=)
c.84A>G (p.Thr28=)
c.900A>G (p.Thr300=)
n.1870A>G
Xg.22114475A>TCA515424626PHEXc.1188A>T (p.Thr396=)
n.865A>T
c.1191A>T (p.Thr397=)
c.435A>T (p.Thr145=)
c.84A>T (p.Thr28=)
c.900A>T (p.Thr300=)
n.1870A>T
Xg.22114476A=CA2419174834PHEXc.1189A= (p.Thr397=)
n.866A=
c.1192A= (p.Thr398=)
c.436A= (p.Thr146=)
c.85A= (p.Thr29=)
c.901A= (p.Thr301=)
n.1871A=
Xg.22114476A>CCA412573333PHEXc.1189A>C (p.Thr397Pro)
n.866A>C
c.1192A>C (p.Thr398Pro)
c.436A>C (p.Thr146Pro)
c.85A>C (p.Thr29Pro)
c.901A>C (p.Thr301Pro)
n.1871A>C
 dbSNP
Xg.22114476A>GCA412573334PHEXc.1189A>G (p.Thr397Ala)
n.866A>G
c.1192A>G (p.Thr398Ala)
c.436A>G (p.Thr146Ala)
c.85A>G (p.Thr29Ala)
c.901A>G (p.Thr301Ala)
n.1871A>G
Xg.22114476A>TCA412573335PHEXc.1189A>T (p.Thr397Ser)
n.866A>T
c.1192A>T (p.Thr398Ser)
c.436A>T (p.Thr146Ser)
c.85A>T (p.Thr29Ser)
c.901A>T (p.Thr301Ser)
n.1871A>T
 gnomAD v4
Xg.22114477C>ACA412573337PHEXc.1190C>A (p.Thr397Asn)
n.867C>A
c.1193C>A (p.Thr398Asn)
c.437C>A (p.Thr146Asn)
c.86C>A (p.Thr29Asn)
c.902C>A (p.Thr301Asn)
n.1872C>A
Xg.22114477C>GCA412573338PHEXc.1190C>G (p.Thr397Ser)
n.867C>G
c.1193C>G (p.Thr398Ser)
c.437C>G (p.Thr146Ser)
c.86C>G (p.Thr29Ser)
c.902C>G (p.Thr301Ser)
n.1872C>G
 gnomAD v4
Xg.22114477C>TCA412573336PHEXc.1190C>T (p.Thr397Ile)
n.867C>T
c.1193C>T (p.Thr398Ile)
c.437C>T (p.Thr146Ile)
c.86C>T (p.Thr29Ile)
c.902C>T (p.Thr301Ile)
n.1872C>T
Xg.22114478T>ACA515424632PHEXc.1191T>A (p.Thr397=)
n.868T>A
c.1194T>A (p.Thr398=)
c.438T>A (p.Thr146=)
c.87T>A (p.Thr29=)
c.903T>A (p.Thr301=)
n.1873T>A
Xg.22114478T>CCA515424633PHEXc.1191T>C (p.Thr397=)
n.868T>C
c.1194T>C (p.Thr398=)
c.438T>C (p.Thr146=)
c.87T>C (p.Thr29=)
c.903T>C (p.Thr301=)
n.1873T>C
 gnomAD v4
Xg.22114478T>GCA515424635PHEXc.1191T>G (p.Thr397=)
n.868T>G
c.1194T>G (p.Thr398=)
c.438T>G (p.Thr146=)
c.87T>G (p.Thr29=)
c.903T>G (p.Thr301=)
n.1873T>G
Xg.22114480dupCA2739268113PHEXc.1193dup (p.Leu398PhefsTer13)
n.870dup
c.1196dup (p.Leu399PhefsTer13)
c.440dup (p.Leu147PhefsTer13)
c.89dup (p.Leu30PhefsTer13)
c.905dup (p.Leu302PhefsTer13)
n.1875dup
 ClinVar
Xg.22114479T>ACA412573340PHEXc.1192T>A (p.Leu398Met)
n.869T>A
c.1195T>A (p.Leu399Met)
c.439T>A (p.Leu147Met)
c.88T>A (p.Leu30Met)
c.904T>A (p.Leu302Met)
n.1874T>A
Xg.22114479T>CCA515424638PHEXc.1192T>C (p.Leu398=)
n.869T>C
c.1195T>C (p.Leu399=)
c.439T>C (p.Leu147=)
c.88T>C (p.Leu30=)
c.904T>C (p.Leu302=)
n.1874T>C
Xg.22114479T>GCA412573339PHEXc.1192T>G (p.Leu398Val)
n.869T>G
c.1195T>G (p.Leu399Val)
c.439T>G (p.Leu147Val)
c.88T>G (p.Leu30Val)
c.904T>G (p.Leu302Val)
n.1874T>G
Xg.22114480T>ACA412573341PHEXc.1193T>A (p.Leu398Ter)
n.870T>A
c.1196T>A (p.Leu399Ter)
c.440T>A (p.Leu147Ter)
c.89T>A (p.Leu30Ter)
c.905T>A (p.Leu302Ter)
n.1875T>A
Xg.22114480T>CCA10368201PHEXc.1193T>C (p.Leu398Ser)
n.870T>C
c.1196T>C (p.Leu399Ser)
c.440T>C (p.Leu147Ser)
c.89T>C (p.Leu30Ser)
c.905T>C (p.Leu302Ser)
n.1875T>C
 ClinVar dbSNP ExAC gnomAD v4
Xg.22114480T>GCA412573342PHEXc.1193T>G (p.Leu398Trp)
n.870T>G
c.1196T>G (p.Leu399Trp)
c.440T>G (p.Leu147Trp)
c.89T>G (p.Leu30Trp)
c.905T>G (p.Leu302Trp)
n.1875T>G
Xg.22114480T=CA2419174835PHEXc.1193T= (p.Leu398=)
n.870T=
c.1196T= (p.Leu399=)
c.440T= (p.Leu147=)
c.89T= (p.Leu30=)
c.905T= (p.Leu302=)
n.1875T=
Xg.22114481G>ACA515424642PHEXc.1194G>A (p.Leu398=)
n.871G>A
c.1197G>A (p.Leu399=)
c.441G>A (p.Leu147=)
c.90G>A (p.Leu30=)
c.906G>A (p.Leu302=)
n.1876G>A
 gnomAD v4
Xg.22114481G>CCA412573343PHEXc.1194G>C (p.Leu398Phe)
n.871G>C
c.1197G>C (p.Leu399Phe)
c.441G>C (p.Leu147Phe)
c.90G>C (p.Leu30Phe)
c.906G>C (p.Leu302Phe)
n.1876G>C
Xg.22114481G>TCA412573344PHEXc.1194G>T (p.Leu398Phe)
n.871G>T
c.1197G>T (p.Leu399Phe)
c.441G>T (p.Leu147Phe)
c.90G>T (p.Leu30Phe)
c.906G>T (p.Leu302Phe)
n.1876G>T
Xg.22114482C>ACA412573346PHEXc.1195C>A (p.Leu399Met)
n.872C>A
c.1198C>A (p.Leu400Met)
c.442C>A (p.Leu148Met)
c.91C>A (p.Leu31Met)
c.907C>A (p.Leu303Met)
n.1877C>A
Xg.22114482C>GCA412573345PHEXc.1195C>G (p.Leu399Val)
n.872C>G
c.1198C>G (p.Leu400Val)
c.442C>G (p.Leu148Val)
c.91C>G (p.Leu31Val)
c.907C>G (p.Leu303Val)
n.1877C>G
Xg.22114482C>TCA515424646PHEXc.1195C>T (p.Leu399=)
n.872C>T
c.1198C>T (p.Leu400=)
c.442C>T (p.Leu148=)
c.91C>T (p.Leu31=)
c.907C>T (p.Leu303=)
n.1877C>T
Xg.22114483T>ACA412573347PHEXc.1196T>A (p.Leu399Gln)
n.873T>A
c.1199T>A (p.Leu400Gln)
c.443T>A (p.Leu148Gln)
c.92T>A (p.Leu31Gln)
c.908T>A (p.Leu303Gln)
n.1878T>A
Xg.22114483T>CCA412573348PHEXc.1196T>C (p.Leu399Pro)
n.873T>C
c.1199T>C (p.Leu400Pro)
c.443T>C (p.Leu148Pro)
c.92T>C (p.Leu31Pro)
c.908T>C (p.Leu303Pro)
n.1878T>C
Xg.22114483T>GCA412573349PHEXc.1196T>G (p.Leu399Arg)
n.873T>G
c.1199T>G (p.Leu400Arg)
c.443T>G (p.Leu148Arg)
c.92T>G (p.Leu31Arg)
c.908T>G (p.Leu303Arg)
n.1878T>G
Xg.22114484G>ACA515424650PHEXc.1197G>A (p.Leu399=)
n.874G>A
c.1200G>A (p.Leu400=)
c.444G>A (p.Leu148=)
c.93G>A (p.Leu31=)
c.909G>A (p.Leu303=)
n.1879G>A
Xg.22114484G>CCA515424651PHEXc.1197G>C (p.Leu399=)
n.874G>C
c.1200G>C (p.Leu400=)
c.444G>C (p.Leu148=)
c.93G>C (p.Leu31=)
c.909G>C (p.Leu303=)
n.1879G>C
Xg.22114484G>TCA515424652PHEXc.1197G>T (p.Leu399=)
n.874G>T
c.1200G>T (p.Leu400=)
c.444G>T (p.Leu148=)
c.93G>T (p.Leu31=)
c.909G>T (p.Leu303=)
n.1879G>T
Xg.22114484_22114485delinsGCCA2419174836PHEXc.1197_1198delinsGC (p.Leu399=)
n.874_875delinsGC
c.1200_1201delinsGC (p.Leu400=)
c.444_445delinsGC (p.Leu148=)
c.93_94delinsGC (p.Leu31=)
c.909_910delinsGC (p.Leu303=)
n.1879_1880delinsGC
Xg.22114485C>ACA412573350PHEXc.1198C>A (p.Pro400Thr)
n.875C>A
c.1201C>A (p.Pro401Thr)
c.445C>A (p.Pro149Thr)
c.94C>A (p.Pro32Thr)
c.910C>A (p.Pro304Thr)
n.1880C>A
Xg.22114485C>GCA412573351PHEXc.1198C>G (p.Pro400Ala)
n.875C>G
c.1201C>G (p.Pro401Ala)
c.445C>G (p.Pro149Ala)
c.94C>G (p.Pro32Ala)
c.910C>G (p.Pro304Ala)
n.1880C>G
Xg.22114485C>TCA412573352PHEXc.1198C>T (p.Pro400Ser)
n.875C>T
c.1201C>T (p.Pro401Ser)
c.445C>T (p.Pro149Ser)
c.94C>T (p.Pro32Ser)
c.910C>T (p.Pro304Ser)
n.1880C>T
 gnomAD v4
Xg.22114486delCA16621322PHEXc.1199del (p.Pro400LeufsTer7)
n.876del
c.1202del (p.Pro401LeufsTer7)
c.446del (p.Pro149LeufsTer7)
c.95del (p.Pro32LeufsTer7)
c.911del (p.Pro304LeufsTer7)
n.1881del
 ClinVar dbSNP
Xg.22114486C>ACA412573354PHEXc.1199C>A (p.Pro400His)
n.876C>A
c.1202C>A (p.Pro401His)
c.446C>A (p.Pro149His)
c.95C>A (p.Pro32His)
c.911C>A (p.Pro304His)
n.1881C>A
 gnomAD v4
Xg.22114486C=CA2419174837PHEXc.1199C= (p.Pro400=)
n.876C=
c.1202C= (p.Pro401=)
c.446C= (p.Pro149=)
c.95C= (p.Pro32=)
c.911C= (p.Pro304=)
n.1881C=
Xg.22114486C>GCA412573353PHEXc.1199C>G (p.Pro400Arg)
n.876C>G
c.1202C>G (p.Pro401Arg)
c.446C>G (p.Pro149Arg)
c.95C>G (p.Pro32Arg)
c.911C>G (p.Pro304Arg)
n.1881C>G
Xg.22114486C>TCA10368202PHEXc.1199C>T (p.Pro400Leu)
n.876C>T
c.1202C>T (p.Pro401Leu)
c.446C>T (p.Pro149Leu)
c.95C>T (p.Pro32Leu)
c.911C>T (p.Pro304Leu)
n.1881C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.22114487T>ACA515424659PHEXc.1200T>A (p.Pro400=)
n.877T>A
c.1203T>A (p.Pro401=)
c.447T>A (p.Pro149=)
c.96T>A (p.Pro32=)
c.912T>A (p.Pro304=)
n.1882T>A
Xg.22114487T>CCA515424660PHEXc.1200T>C (p.Pro400=)
n.877T>C
c.1203T>C (p.Pro401=)
c.447T>C (p.Pro149=)
c.96T>C (p.Pro32=)
c.912T>C (p.Pro304=)
n.1882T>C
Xg.22114487T>GCA515424662PHEXc.1200T>G (p.Pro400=)
n.877T>G
c.1203T>G (p.Pro401=)
c.447T>G (p.Pro149=)
c.96T>G (p.Pro32=)
c.912T>G (p.Pro304=)
n.1882T>G
Xg.22114488delCA2579572134PHEXc.1201del (p.Gln401AsnfsTer6)
n.878del
c.1204del (p.Gln402AsnfsTer6)
c.448del (p.Gln150AsnfsTer6)
c.97del (p.Gln33AsnfsTer6)
c.913del (p.Gln305AsnfsTer6)
n.1883del
Xg.22114488C>ACA412573355PHEXc.1201C>A (p.Gln401Lys)
n.878C>A
c.1204C>A (p.Gln402Lys)
c.448C>A (p.Gln150Lys)
c.97C>A (p.Gln33Lys)
c.913C>A (p.Gln305Lys)
n.1883C>A
Xg.22114488C=CA2419174838PHEXc.1201C= (p.Gln401=)
n.878C=
c.1204C= (p.Gln402=)
c.448C= (p.Gln150=)
c.97C= (p.Gln33=)
c.913C= (p.Gln305=)
n.1883C=
Xg.22114488C>GCA412573356PHEXc.1201C>G (p.Gln401Glu)
n.878C>G
c.1204C>G (p.Gln402Glu)
c.448C>G (p.Gln150Glu)
c.97C>G (p.Gln33Glu)
c.913C>G (p.Gln305Glu)
n.1883C>G
Xg.22114488C>TCA10588760PHEXc.1201C>T (p.Gln401Ter)
n.878C>T
c.1204C>T (p.Gln402Ter)
c.448C>T (p.Gln150Ter)
c.97C>T (p.Gln33Ter)
c.913C>T (p.Gln305Ter)
n.1883C>T
 ClinVar dbSNP
Xg.22114489A>CCA412573357PHEXc.1202A>C (p.Gln401Pro)
n.879A>C
c.1205A>C (p.Gln402Pro)
c.449A>C (p.Gln150Pro)
c.98A>C (p.Gln33Pro)
c.914A>C (p.Gln305Pro)
n.1884A>C
Xg.22114489A>GCA412573358PHEXc.1202A>G (p.Gln401Arg)
n.879A>G
c.1205A>G (p.Gln402Arg)
c.449A>G (p.Gln150Arg)
c.98A>G (p.Gln33Arg)
c.914A>G (p.Gln305Arg)
n.1884A>G
 gnomAD v4
Xg.22114489A>TCA412573359PHEXc.1202A>T (p.Gln401Leu)
n.879A>T
c.1205A>T (p.Gln402Leu)
c.449A>T (p.Gln150Leu)
c.98A>T (p.Gln33Leu)
c.914A>T (p.Gln305Leu)
n.1884A>T
Xg.22114490delCA913187414PHEXc.1203del (p.Gln401HisfsTer6)
n.880del
c.1206del (p.Gln402HisfsTer6)
c.450del (p.Gln150HisfsTer6)
c.99del (p.Gln33HisfsTer6)
c.915del (p.Gln305HisfsTer6)
n.1885del
 ClinVar dbSNP
Xg.22114490A=CA2419174839PHEXc.1203A= (p.Gln401=)
n.880A=
c.1206A= (p.Gln402=)
c.450A= (p.Gln150=)
c.99A= (p.Gln33=)
c.915A= (p.Gln305=)
n.1885A=
Xg.22114490A>CCA412573360PHEXc.1203A>C (p.Gln401His)
n.880A>C
c.1206A>C (p.Gln402His)
c.450A>C (p.Gln150His)
c.99A>C (p.Gln33His)
c.915A>C (p.Gln305His)
n.1885A>C
Xg.22114490A>GCA10368203PHEXc.1203A>G (p.Gln401=)
n.880A>G
c.1206A>G (p.Gln402=)
c.450A>G (p.Gln150=)
c.99A>G (p.Gln33=)
c.915A>G (p.Gln305=)
n.1885A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.22114490A>TCA412573361PHEXc.1203A>T (p.Gln401His)
n.880A>T
c.1206A>T (p.Gln402His)
c.450A>T (p.Gln150His)
c.99A>T (p.Gln33His)
c.915A>T (p.Gln305His)
n.1885A>T
 gnomAD v4
Xg.22114491T>ACA412573362PHEXc.1204T>A (p.Trp402Arg)
n.881T>A
c.1207T>A (p.Trp403Arg)
c.451T>A (p.Trp151Arg)
c.100T>A (p.Trp34Arg)
c.916T>A (p.Trp306Arg)
n.1886T>A
Xg.22114491T>CCA412573363PHEXc.1204T>C (p.Trp402Arg)
n.881T>C
c.1207T>C (p.Trp403Arg)
c.451T>C (p.Trp151Arg)
c.100T>C (p.Trp34Arg)
c.916T>C (p.Trp306Arg)
n.1886T>C
Xg.22114491T>GCA412573364PHEXc.1204T>G (p.Trp402Gly)
n.881T>G
c.1207T>G (p.Trp403Gly)
c.451T>G (p.Trp151Gly)
c.100T>G (p.Trp34Gly)
c.916T>G (p.Trp306Gly)
n.1886T>G
Xg.22114492G>ACA412573365PHEXc.1205G>A (p.Trp402Ter)
n.882G>A
c.1208G>A (p.Trp403Ter)
c.452G>A (p.Trp151Ter)
c.101G>A (p.Trp34Ter)
c.917G>A (p.Trp306Ter)
n.1887G>A
 ClinVar dbSNP
Xg.22114492G>CCA412573367PHEXc.1205G>C (p.Trp402Ser)
n.882G>C
c.1208G>C (p.Trp403Ser)
c.452G>C (p.Trp151Ser)
c.101G>C (p.Trp34Ser)
c.917G>C (p.Trp306Ser)
n.1887G>C
Xg.22114492G=CA2419174840PHEXc.1205G= (p.Trp402=)
n.882G=
c.1208G= (p.Trp403=)
c.452G= (p.Trp151=)
c.101G= (p.Trp34=)
c.917G= (p.Trp306=)
n.1887G=
Xg.22114492G>TCA412573366PHEXc.1205G>T (p.Trp402Leu)
n.882G>T
c.1208G>T (p.Trp403Leu)
c.452G>T (p.Trp151Leu)
c.101G>T (p.Trp34Leu)
c.917G>T (p.Trp306Leu)
n.1887G>T
Xg.22114494delCA2499226579PHEXc.1207del (p.Asp403ThrfsTer4)
n.884del
c.1210del (p.Asp404ThrfsTer4)
c.454del (p.Asp152ThrfsTer4)
c.103del (p.Asp35ThrfsTer4)
c.919del (p.Asp307ThrfsTer4)
n.1889del
 ClinVar dbSNP
Xg.22114493G>ACA10588761PHEXc.1206G>A (p.Trp402Ter)
n.883G>A
c.1209G>A (p.Trp403Ter)
c.453G>A (p.Trp151Ter)
c.102G>A (p.Trp34Ter)
c.918G>A (p.Trp306Ter)
n.1888G>A
 ClinVar dbSNP COSMIC COSMIC
Xg.22114493G>CCA412573368PHEXc.1206G>C (p.Trp402Cys)
n.883G>C
c.1209G>C (p.Trp403Cys)
c.453G>C (p.Trp151Cys)
c.102G>C (p.Trp34Cys)
c.918G>C (p.Trp306Cys)
n.1888G>C
Xg.22114493G=CA2419174841PHEXc.1206G= (p.Trp402=)
n.883G=
c.1209G= (p.Trp403=)
c.453G= (p.Trp151=)
c.102G= (p.Trp34=)
c.918G= (p.Trp306=)
n.1888G=
Xg.22114493G>TCA412573369PHEXc.1206G>T (p.Trp402Cys)
n.883G>T
c.1209G>T (p.Trp403Cys)
c.453G>T (p.Trp151Cys)
c.102G>T (p.Trp34Cys)
c.918G>T (p.Trp306Cys)
n.1888G>T
Xg.22114494G>ACA412573370PHEXc.1207G>A (p.Asp403Asn)
n.884G>A
c.1210G>A (p.Asp404Asn)
c.454G>A (p.Asp152Asn)
c.103G>A (p.Asp35Asn)
c.919G>A (p.Asp307Asn)
n.1889G>A
 COSMIC COSMIC
Xg.22114494G>CCA412573371PHEXc.1207G>C (p.Asp403His)
n.884G>C
c.1210G>C (p.Asp404His)
c.454G>C (p.Asp152His)
c.103G>C (p.Asp35His)
c.919G>C (p.Asp307His)
n.1889G>C
Xg.22114494G>TCA412573372PHEXc.1207G>T (p.Asp403Tyr)
n.884G>T
c.1210G>T (p.Asp404Tyr)
c.454G>T (p.Asp152Tyr)
c.103G>T (p.Asp35Tyr)
c.919G>T (p.Asp307Tyr)
n.1889G>T
Xg.22114495A=CA2419174842PHEXc.1208A= (p.Asp403=)
n.885A=
c.1211A= (p.Asp404=)
c.455A= (p.Asp152=)
c.104A= (p.Asp35=)
c.920A= (p.Asp307=)
n.1890A=
Xg.22114495A>CCA412573373PHEXc.1208A>C (p.Asp403Ala)
n.885A>C
c.1211A>C (p.Asp404Ala)
c.455A>C (p.Asp152Ala)
c.104A>C (p.Asp35Ala)
c.920A>C (p.Asp307Ala)
n.1890A>C
Xg.22114495A>GCA412573374PHEXc.1208A>G (p.Asp403Gly)
n.885A>G
c.1211A>G (p.Asp404Gly)
c.455A>G (p.Asp152Gly)
c.104A>G (p.Asp35Gly)
c.920A>G (p.Asp307Gly)
n.1890A>G
 gnomAD v4
Xg.22114495A>TCA412573375PHEXc.1208A>T (p.Asp403Val)
n.885A>T
c.1211A>T (p.Asp404Val)
c.455A>T (p.Asp152Val)
c.104A>T (p.Asp35Val)
c.920A>T (p.Asp307Val)
n.1890A>T
 dbSNP
Xg.22114495_22114499delinsTTTACATCA2695231534PHEXc.1208_1212delinsTTTACAT (p.Asp403ValfsTer5)
n.885_889delinsTTTACAT
c.1211_1215delinsTTTACAT (p.Asp404ValfsTer5)
c.455_459delinsTTTACAT (p.Asp152ValfsTer5)
c.104_108delinsTTTACAT (p.Asp35ValfsTer5)
c.920_924delinsTTTACAT (p.Asp307ValfsTer5)
n.1890_1894delinsTTTACAT
Xg.22114496C>ACA412573376PHEXc.1209C>A (p.Asp403Glu)
n.886C>A
c.1212C>A (p.Asp404Glu)
c.456C>A (p.Asp152Glu)
c.105C>A (p.Asp35Glu)
c.921C>A (p.Asp307Glu)
n.1891C>A
 gnomAD v4
Xg.22114496C>GCA412573377PHEXc.1209C>G (p.Asp403Glu)
n.886C>G
c.1212C>G (p.Asp404Glu)
c.456C>G (p.Asp152Glu)
c.105C>G (p.Asp35Glu)
c.921C>G (p.Asp307Glu)
n.1891C>G
Xg.22114496C>TCA515424682PHEXc.1209C>T (p.Asp403=)
n.886C>T
c.1212C>T (p.Asp404=)
c.456C>T (p.Asp152=)
c.105C>T (p.Asp35=)
c.921C>T (p.Asp307=)
n.1891C>T
 gnomAD v4
Xg.22114496_22114497delinsCACA2419174843PHEXc.1209_1210delinsCA (p.Asp403=)
n.886_887delinsCA
c.1212_1213delinsCA (p.Asp404=)
c.456_457delinsCA (p.Asp152=)
c.105_106delinsCA (p.Asp35=)
c.921_922delinsCA (p.Asp307=)
n.1891_1892delinsCA
Xg.22114497A>CCA412573380PHEXc.1210A>C (p.Lys404Gln)
n.887A>C
c.1213A>C (p.Lys405Gln)
c.457A>C (p.Lys153Gln)
c.106A>C (p.Lys36Gln)
c.922A>C (p.Lys308Gln)
n.1892A>C
Xg.22114497A>GCA412573379PHEXc.1210A>G (p.Lys404Glu)
n.887A>G
c.1213A>G (p.Lys405Glu)
c.457A>G (p.Lys153Glu)
c.106A>G (p.Lys36Glu)
c.922A>G (p.Lys308Glu)
n.1892A>G
Xg.22114497A>TCA412573378PHEXc.1210A>T (p.Lys404Ter)
n.887A>T
c.1213A>T (p.Lys405Ter)
c.457A>T (p.Lys153Ter)
c.106A>T (p.Lys36Ter)
c.922A>T (p.Lys308Ter)
n.1892A>T
Xg.22114499delCA915950853PHEXc.1212del (p.Lys404AsnfsTer3)
n.889del
c.1215del (p.Lys405AsnfsTer3)
c.459del (p.Lys153AsnfsTer3)
c.108del (p.Lys36AsnfsTer3)
c.924del (p.Lys308AsnfsTer3)
n.1894del
 ClinVar dbSNP
Xg.22114498A>CCA412573381PHEXc.1211A>C (p.Lys404Thr)
n.888A>C
c.1214A>C (p.Lys405Thr)
c.458A>C (p.Lys153Thr)
c.107A>C (p.Lys36Thr)
c.923A>C (p.Lys308Thr)
n.1893A>C
Xg.22114498A>GCA412573382PHEXc.1211A>G (p.Lys404Arg)
n.888A>G
c.1214A>G (p.Lys405Arg)
c.458A>G (p.Lys153Arg)
c.107A>G (p.Lys36Arg)
c.923A>G (p.Lys308Arg)
n.1893A>G
 gnomAD v4
Xg.22114498A>TCA412573383PHEXc.1211A>T (p.Lys404Ile)
n.888A>T
c.1214A>T (p.Lys405Ile)
c.458A>T (p.Lys153Ile)
c.107A>T (p.Lys36Ile)
c.923A>T (p.Lys308Ile)
n.1893A>T
Xg.22114499A>CCA412573384PHEXc.1212A>C (p.Lys404Asn)
n.889A>C
c.1215A>C (p.Lys405Asn)
c.459A>C (p.Lys153Asn)
c.108A>C (p.Lys36Asn)
c.924A>C (p.Lys308Asn)
n.1894A>C
Xg.22114499A>GCA515424690PHEXc.1212A>G (p.Lys404=)
n.889A>G
c.1215A>G (p.Lys405=)
c.459A>G (p.Lys153=)
c.108A>G (p.Lys36=)
c.924A>G (p.Lys308=)
n.1894A>G
Xg.22114499A>TCA412573385PHEXc.1212A>T (p.Lys404Asn)
n.889A>T
c.1215A>T (p.Lys405Asn)
c.459A>T (p.Lys153Asn)
c.108A>T (p.Lys36Asn)
c.924A>T (p.Lys308Asn)
n.1894A>T
Xg.22114499_22114500insCCA2695231535PHEXc.1212_1213insC (p.Cys405LeufsTer6)
n.889_890insC
c.1215_1216insC (p.Cys406LeufsTer6)
c.459_460insC (p.Cys154LeufsTer6)
c.108_109insC (p.Cys37LeufsTer6)
c.924_925insC (p.Cys309LeufsTer6)
n.1894_1895insC
Xg.22114500T>ACA412573386PHEXc.1213T>A (p.Cys405Ser)
n.890T>A
c.1216T>A (p.Cys406Ser)
c.460T>A (p.Cys154Ser)
c.109T>A (p.Cys37Ser)
c.925T>A (p.Cys309Ser)
n.1895T>A
Xg.22114500T>CCA412573387PHEXc.1213T>C (p.Cys405Arg)
n.890T>C
c.1216T>C (p.Cys406Arg)
c.460T>C (p.Cys154Arg)
c.109T>C (p.Cys37Arg)
c.925T>C (p.Cys309Arg)
n.1895T>C
 ClinVar dbSNP
Xg.22114500T>GCA412573388PHEXc.1213T>G (p.Cys405Gly)
n.890T>G
c.1216T>G (p.Cys406Gly)
c.460T>G (p.Cys154Gly)
c.109T>G (p.Cys37Gly)
c.925T>G (p.Cys309Gly)
n.1895T>G
Xg.22114500T=CA2419174844PHEXc.1213T= (p.Cys405=)
n.890T=
c.1216T= (p.Cys406=)
c.460T= (p.Cys154=)
c.109T= (p.Cys37=)
c.925T= (p.Cys309=)
n.1895T=
Xg.22114501G>ACA412573389PHEXc.1214G>A (p.Cys405Tyr)
n.891G>A
c.1217G>A (p.Cys406Tyr)
c.461G>A (p.Cys154Tyr)
c.110G>A (p.Cys37Tyr)
c.926G>A (p.Cys309Tyr)
n.1896G>A
 ClinVar dbSNP
Xg.22114501G>CCA412573390PHEXc.1214G>C (p.Cys405Ser)
n.891G>C
c.1217G>C (p.Cys406Ser)
c.461G>C (p.Cys154Ser)
c.110G>C (p.Cys37Ser)
c.926G>C (p.Cys309Ser)
n.1896G>C
Xg.22114501G=CA2419174845PHEXc.1214G= (p.Cys405=)
n.891G=
c.1217G= (p.Cys406=)
c.461G= (p.Cys154=)
c.110G= (p.Cys37=)
c.926G= (p.Cys309=)
n.1896G=
Xg.22114501G>TCA412573391PHEXc.1214G>T (p.Cys405Phe)
n.891G>T
c.1217G>T (p.Cys406Phe)
c.461G>T (p.Cys154Phe)
c.110G>T (p.Cys37Phe)
c.926G>T (p.Cys309Phe)
n.1896G>T
 ClinVar
Xg.22114502T>ACA412573392PHEXc.1215T>A (p.Cys405Ter)
n.892T>A
c.1218T>A (p.Cys406Ter)
c.462T>A (p.Cys154Ter)
c.111T>A (p.Cys37Ter)
c.927T>A (p.Cys309Ter)
n.1897T>A
 ClinVar dbSNP
Xg.22114502T>CCA515424698PHEXc.1215T>C (p.Cys405=)
n.892T>C
c.1218T>C (p.Cys406=)
c.462T>C (p.Cys154=)
c.111T>C (p.Cys37=)
c.927T>C (p.Cys309=)
n.1897T>C
 dbSNP gnomAD v2 gnomAD v4
Xg.22114502T>GCA412573393PHEXc.1215T>G (p.Cys405Trp)
n.892T>G
c.1218T>G (p.Cys406Trp)
c.462T>G (p.Cys154Trp)
c.111T>G (p.Cys37Trp)
c.927T>G (p.Cys309Trp)
n.1897T>G
Xg.22114502T=CA2419174846PHEXc.1215T= (p.Cys405=)
n.892T=
c.1218T= (p.Cys406=)
c.462T= (p.Cys154=)
c.111T= (p.Cys37=)
c.927T= (p.Cys309=)
n.1897T=
Xg.22114503G>ACA412573395PHEXc.1216G>A (p.Val406Ile)
n.893G>A
c.1219G>A (p.Val407Ile)
c.463G>A (p.Val155Ile)
c.112G>A (p.Val38Ile)
c.928G>A (p.Val310Ile)
n.1898G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.22114503G>CCA412573396PHEXc.1216G>C (p.Val406Leu)
n.893G>C
c.1219G>C (p.Val407Leu)
c.463G>C (p.Val155Leu)
c.112G>C (p.Val38Leu)
c.928G>C (p.Val310Leu)
n.1898G>C
Xg.22114503G=CA2419174847PHEXc.1216G= (p.Val406=)
n.893G=
c.1219G= (p.Val407=)
c.463G= (p.Val155=)
c.112G= (p.Val38=)
c.928G= (p.Val310=)
n.1898G=
Xg.22114503G>TCA412573394PHEXc.1216G>T (p.Val406Leu)
n.893G>T
c.1219G>T (p.Val407Leu)
c.463G>T (p.Val155Leu)
c.112G>T (p.Val38Leu)
c.928G>T (p.Val310Leu)
n.1898G>T
Xg.22114504T>ACA412573398PHEXc.1217T>A (p.Val406Glu)
n.894T>A
c.1220T>A (p.Val407Glu)
c.464T>A (p.Val155Glu)
c.113T>A (p.Val38Glu)
c.929T>A (p.Val310Glu)
n.1899T>A
Xg.22114504T>CCA10368204PHEXc.1217T>C (p.Val406Ala)
n.894T>C
c.1220T>C (p.Val407Ala)
c.464T>C (p.Val155Ala)
c.113T>C (p.Val38Ala)
c.929T>C (p.Val310Ala)
n.1899T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.22114504T>GCA412573397PHEXc.1217T>G (p.Val406Gly)
n.894T>G
c.1220T>G (p.Val407Gly)
c.464T>G (p.Val155Gly)
c.113T>G (p.Val38Gly)
c.929T>G (p.Val310Gly)
n.1899T>G
 ClinVar dbSNP COSMIC COSMIC
Xg.22114504T=CA2419174848PHEXc.1217T= (p.Val406=)
n.894T=
c.1220T= (p.Val407=)
c.464T= (p.Val155=)
c.113T= (p.Val38=)
c.929T= (p.Val310=)
n.1899T=
Xg.22114505A>CCA515424703PHEXc.1218A>C (p.Val406=)
n.895A>C
c.1221A>C (p.Val407=)
c.465A>C (p.Val155=)
c.114A>C (p.Val38=)
c.930A>C (p.Val310=)
n.1900A>C
Xg.22114505A>GCA515424705PHEXc.1218A>G (p.Val406=)
n.895A>G
c.1221A>G (p.Val407=)
c.465A>G (p.Val155=)
c.114A>G (p.Val38=)
c.930A>G (p.Val310=)
n.1900A>G
Xg.22114505A>TCA515424707PHEXc.1218A>T (p.Val406=)
n.895A>T
c.1221A>T (p.Val407=)
c.465A>T (p.Val155=)
c.114A>T (p.Val38=)
c.930A>T (p.Val310=)
n.1900A>T
Xg.22114506A>CCA412573399PHEXc.1219A>C (p.Asn407His)
n.896A>C
c.1222A>C (p.Asn408His)
c.466A>C (p.Asn156His)
c.115A>C (p.Asn39His)
c.931A>C (p.Asn311His)
n.1901A>C
 COSMIC
Xg.22114506A>GCA412573400PHEXc.1219A>G (p.Asn407Asp)
n.896A>G
c.1222A>G (p.Asn408Asp)
c.466A>G (p.Asn156Asp)
c.115A>G (p.Asn39Asp)
c.931A>G (p.Asn311Asp)
n.1901A>G
Xg.22114506A>TCA412573401PHEXc.1219A>T (p.Asn407Tyr)
n.896A>T
c.1222A>T (p.Asn408Tyr)
c.466A>T (p.Asn156Tyr)
c.115A>T (p.Asn39Tyr)
c.931A>T (p.Asn311Tyr)
n.1901A>T
Xg.22114507A>CCA412573402PHEXc.1220A>C (p.Asn407Thr)
n.897A>C
c.1223A>C (p.Asn408Thr)
c.467A>C (p.Asn156Thr)
c.116A>C (p.Asn39Thr)
c.932A>C (p.Asn311Thr)
n.1902A>C
Xg.22114507A>GCA412573403PHEXc.1220A>G (p.Asn407Ser)
n.897A>G
c.1223A>G (p.Asn408Ser)
c.467A>G (p.Asn156Ser)
c.116A>G (p.Asn39Ser)
c.932A>G (p.Asn311Ser)
n.1902A>G
Xg.22114507A>TCA412573404PHEXc.1220A>T (p.Asn407Ile)
n.897A>T
c.1223A>T (p.Asn408Ile)
c.467A>T (p.Asn156Ile)
c.116A>T (p.Asn39Ile)
c.932A>T (p.Asn311Ile)
n.1902A>T
Xg.22114507_22114508delinsACCA2419174849PHEXc.1220_1221delinsAC (p.Asn407=)
n.897_898delinsAC
c.1223_1224delinsAC (p.Asn408=)
c.467_468delinsAC (p.Asn156=)
c.116_117delinsAC (p.Asn39=)
c.932_933delinsAC (p.Asn311=)
n.1902_1903delinsAC
Xg.22114508delCA1139667295PHEXc.1221del (p.Phe408LeufsTer15)
n.898del
c.1224del (p.Phe409LeufsTer15)
c.468del (p.Phe157LeufsTer15)
c.117del (p.Phe40LeufsTer15)
c.933del (p.Phe312LeufsTer15)
n.1903del
 ClinVar dbSNP
Xg.22114508C>ACA412573406PHEXc.1221C>A (p.Asn407Lys)
n.898C>A
c.1224C>A (p.Asn408Lys)
c.468C>A (p.Asn156Lys)
c.117C>A (p.Asn39Lys)
c.933C>A (p.Asn311Lys)
n.1903C>A
Xg.22114508C>GCA412573408PHEXc.1221C>G (p.Asn407Lys)
n.898C>G
c.1224C>G (p.Asn408Lys)
c.468C>G (p.Asn156Lys)
c.117C>G (p.Asn39Lys)
c.933C>G (p.Asn311Lys)
n.1903C>G
Xg.22114508C>TCA515424714PHEXc.1221C>T (p.Asn407=)
n.898C>T
c.1224C>T (p.Asn408=)
c.468C>T (p.Asn156=)
c.117C>T (p.Asn39=)
c.933C>T (p.Asn311=)
n.1903C>T
Xg.22114509T>ACA412573410PHEXc.1222T>A (p.Phe408Ile)
n.899T>A
c.1225T>A (p.Phe409Ile)
c.469T>A (p.Phe157Ile)
c.118T>A (p.Phe40Ile)
c.934T>A (p.Phe312Ile)
n.1904T>A
Xg.22114509T>CCA10368205PHEXc.1222T>C (p.Phe408Leu)
n.899T>C
c.1225T>C (p.Phe409Leu)
c.469T>C (p.Phe157Leu)
c.118T>C (p.Phe40Leu)
c.934T>C (p.Phe312Leu)
n.1904T>C
 dbSNP ExAC
Xg.22114509T>GCA412573412PHEXc.1222T>G (p.Phe408Val)
n.899T>G
c.1225T>G (p.Phe409Val)
c.469T>G (p.Phe157Val)
c.118T>G (p.Phe40Val)
c.934T>G (p.Phe312Val)
n.1904T>G
Xg.22114509T=CA2419174850PHEXc.1222T= (p.Phe408=)
n.899T=
c.1225T= (p.Phe409=)
c.469T= (p.Phe157=)
c.118T= (p.Phe40=)
c.934T= (p.Phe312=)
n.1904T=
Xg.22114510_22114511delCA2695231536PHEXc.1223_1224del (p.Phe408TyrfsTer2)
n.900_901del
c.1226_1227del (p.Phe409TyrfsTer2)
c.470_471del (p.Phe157TyrfsTer2)
c.119_120del (p.Phe40TyrfsTer2)
c.935_936del (p.Phe312TyrfsTer2)
n.1905_1906del
Xg.22114510T>ACA412573421PHEXc.1223T>A (p.Phe408Tyr)
n.900T>A
c.1226T>A (p.Phe409Tyr)
c.470T>A (p.Phe157Tyr)
c.119T>A (p.Phe40Tyr)
c.935T>A (p.Phe312Tyr)
n.1905T>A
 dbSNP
Xg.22114510T>CCA412573414PHEXc.1223T>C (p.Phe408Ser)
n.900T>C
c.1226T>C (p.Phe409Ser)
c.470T>C (p.Phe157Ser)
c.119T>C (p.Phe40Ser)
c.935T>C (p.Phe312Ser)
n.1905T>C
Xg.22114510T>GCA412573419PHEXc.1223T>G (p.Phe408Cys)
n.900T>G
c.1226T>G (p.Phe409Cys)
c.470T>G (p.Phe157Cys)
c.119T>G (p.Phe40Cys)
c.935T>G (p.Phe312Cys)
n.1905T>G
Xg.22114511T>ACA412573423PHEXc.1224T>A (p.Phe408Leu)
n.901T>A
c.1227T>A (p.Phe409Leu)
c.471T>A (p.Phe157Leu)
c.120T>A (p.Phe40Leu)
c.936T>A (p.Phe312Leu)
n.1906T>A
Xg.22114511T>CCA515424722PHEXc.1224T>C (p.Phe408=)
n.901T>C
c.1227T>C (p.Phe409=)
c.471T>C (p.Phe157=)
c.120T>C (p.Phe40=)
c.936T>C (p.Phe312=)
n.1906T>C
 dbSNP
Xg.22114511T>GCA412573425PHEXc.1224T>G (p.Phe408Leu)
n.901T>G
c.1227T>G (p.Phe409Leu)
c.471T>G (p.Phe157Leu)
c.120T>G (p.Phe40Leu)
c.936T>G (p.Phe312Leu)
n.1906T>G
Xg.22114511T=CA2419174851PHEXc.1224T= (p.Phe408=)
n.901T=
c.1227T= (p.Phe409=)
c.471T= (p.Phe157=)
c.120T= (p.Phe40=)
c.936T= (p.Phe312=)
n.1906T=
Xg.22114512A>CCA412573427PHEXc.1225A>C (p.Ile409Leu)
n.902A>C
c.1228A>C (p.Ile410Leu)
c.472A>C (p.Ile158Leu)
c.121A>C (p.Ile41Leu)
c.937A>C (p.Ile313Leu)
n.1907A>C
Xg.22114512A>GCA412573429PHEXc.1225A>G (p.Ile409Val)
n.902A>G
c.1228A>G (p.Ile410Val)
c.472A>G (p.Ile158Val)
c.121A>G (p.Ile41Val)
c.937A>G (p.Ile313Val)
n.1907A>G
Xg.22114512A>TCA412573431PHEXc.1225A>T (p.Ile409Phe)
n.902A>T
c.1228A>T (p.Ile410Phe)
c.472A>T (p.Ile158Phe)
c.121A>T (p.Ile41Phe)
c.937A>T (p.Ile313Phe)
n.1907A>T
Xg.22114513_22114516delCA2573158529PHEXc.1226_1229del (p.Ile409LysfsTer13)
n.903_906del
c.1229_1232del (p.Ile410LysfsTer13)
c.473_476del (p.Ile158LysfsTer13)
c.122_125del (p.Ile41LysfsTer13)
c.938_941del (p.Ile313LysfsTer13)
n.1908_1911del
 ClinVar dbSNP
Xg.22114513T>ACA412573433PHEXc.1226T>A (p.Ile409Asn)
n.903T>A
c.1229T>A (p.Ile410Asn)
c.473T>A (p.Ile158Asn)
c.122T>A (p.Ile41Asn)
c.938T>A (p.Ile313Asn)
n.1908T>A
Xg.22114513T>CCA412573435PHEXc.1226T>C (p.Ile409Thr)
n.903T>C
c.1229T>C (p.Ile410Thr)
c.473T>C (p.Ile158Thr)
c.122T>C (p.Ile41Thr)
c.938T>C (p.Ile313Thr)
n.1908T>C
Xg.22114513T>GCA412573437PHEXc.1226T>G (p.Ile409Ser)
n.903T>G
c.1229T>G (p.Ile410Ser)
c.473T>G (p.Ile158Ser)
c.122T>G (p.Ile41Ser)
c.938T>G (p.Ile313Ser)
n.1908T>G
Xg.22114514T>ACA515424728PHEXc.1227T>A (p.Ile409=)
n.904T>A
c.1230T>A (p.Ile410=)
c.474T>A (p.Ile158=)
c.123T>A (p.Ile41=)
c.939T>A (p.Ile313=)
n.1909T>A
Xg.22114514T>CCA515424730PHEXc.1227T>C (p.Ile409=)
n.904T>C
c.1230T>C (p.Ile410=)
c.474T>C (p.Ile158=)
c.123T>C (p.Ile41=)
c.939T>C (p.Ile313=)
n.1909T>C
 gnomAD v4
Xg.22114514T>GCA412573439PHEXc.1227T>G (p.Ile409Met)
n.904T>G
c.1230T>G (p.Ile410Met)
c.474T>G (p.Ile158Met)
c.123T>G (p.Ile41Met)
c.939T>G (p.Ile313Met)
n.1909T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.22114514T=CA2419174852PHEXc.1227T= (p.Ile409=)
n.904T=
c.1230T= (p.Ile410=)
c.474T= (p.Ile158=)
c.123T= (p.Ile41=)
c.939T= (p.Ile313=)
n.1909T=
Xg.22114515G>ACA412573441PHEXc.1228G>A (p.Glu410Lys)
n.905G>A
c.1231G>A (p.Glu411Lys)
c.475G>A (p.Glu159Lys)
c.124G>A (p.Glu42Lys)
c.940G>A (p.Glu314Lys)
n.1910G>A
 dbSNP
Xg.22114515G>CCA412573443PHEXc.1228G>C (p.Glu410Gln)
n.905G>C
c.1231G>C (p.Glu411Gln)
c.475G>C (p.Glu159Gln)
c.124G>C (p.Glu42Gln)
c.940G>C (p.Glu314Gln)
n.1910G>C
Xg.22114515G=CA2419174853PHEXc.1228G= (p.Glu410=)
n.905G=
c.1231G= (p.Glu411=)
c.475G= (p.Glu159=)
c.124G= (p.Glu42=)
c.940G= (p.Glu314=)
n.1910G=
Xg.22114515G>TCA412573445PHEXc.1228G>T (p.Glu410Ter)
n.905G>T
c.1231G>T (p.Glu411Ter)
c.475G>T (p.Glu159Ter)
c.124G>T (p.Glu42Ter)
c.940G>T (p.Glu314Ter)
n.1910G>T
Xg.22114516A>CCA412573452PHEXc.1229A>C (p.Glu410Ala)
n.906A>C
c.1232A>C (p.Glu411Ala)
c.476A>C (p.Glu159Ala)
c.125A>C (p.Glu42Ala)
c.941A>C (p.Glu314Ala)
n.1911A>C
Xg.22114516A>GCA412573449PHEXc.1229A>G (p.Glu410Gly)
n.906A>G
c.1232A>G (p.Glu411Gly)
c.476A>G (p.Glu159Gly)
c.125A>G (p.Glu42Gly)
c.941A>G (p.Glu314Gly)
n.1911A>G
Xg.22114516A>TCA412573448PHEXc.1229A>T (p.Glu410Val)
n.906A>T
c.1232A>T (p.Glu411Val)
c.476A>T (p.Glu159Val)
c.125A>T (p.Glu42Val)
c.941A>T (p.Glu314Val)
n.1911A>T
Xg.22114518delCA2695231537PHEXc.1231del (p.Ser411ValfsTer12)
n.908del
c.1234del (p.Ser412ValfsTer12)
c.478del (p.Ser160ValfsTer12)
c.127del (p.Ser43ValfsTer12)
c.943del (p.Ser315ValfsTer12)
n.1913del
Xg.22114517A=CA2419174854PHEXc.1230A= (p.Glu410=)
n.907A=
c.1233A= (p.Glu411=)
c.477A= (p.Glu159=)
c.126A= (p.Glu42=)
c.942A= (p.Glu314=)
n.1912A=
Xg.22114517A>CCA412573454PHEXc.1230A>C (p.Glu410Asp)
n.907A>C
c.1233A>C (p.Glu411Asp)
c.477A>C (p.Glu159Asp)
c.126A>C (p.Glu42Asp)
c.942A>C (p.Glu314Asp)
n.1912A>C
Xg.22114517A>GCA515424737PHEXc.1230A>G (p.Glu410=)
n.907A>G
c.1233A>G (p.Glu411=)
c.477A>G (p.Glu159=)
c.126A>G (p.Glu42=)
c.942A>G (p.Glu314=)
n.1912A>G
 dbSNP gnomAD v3 gnomAD v4
Xg.22114517A>TCA412573456PHEXc.1230A>T (p.Glu410Asp)
n.907A>T
c.1233A>T (p.Glu411Asp)
c.477A>T (p.Glu159Asp)
c.126A>T (p.Glu42Asp)
c.942A>T (p.Glu314Asp)
n.1912A>T
Xg.22114518A>CCA412573458PHEXc.1231A>C (p.Ser411Arg)
n.908A>C
c.1234A>C (p.Ser412Arg)
c.478A>C (p.Ser160Arg)
c.127A>C (p.Ser43Arg)
c.943A>C (p.Ser315Arg)
n.1913A>C
Xg.22114518A>GCA412573460PHEXc.1231A>G (p.Ser411Gly)
n.908A>G
c.1234A>G (p.Ser412Gly)
c.478A>G (p.Ser160Gly)
c.127A>G (p.Ser43Gly)
c.943A>G (p.Ser315Gly)
n.1913A>G
Xg.22114518A>TCA412573462PHEXc.1231A>T (p.Ser411Cys)
n.908A>T
c.1234A>T (p.Ser412Cys)
c.478A>T (p.Ser160Cys)
c.127A>T (p.Ser43Cys)
c.943A>T (p.Ser315Cys)
n.1913A>T
Xg.22114519G>ACA412573464PHEXc.1232G>A (p.Ser411Asn)
n.909G>A
c.1235G>A (p.Ser412Asn)
c.479G>A (p.Ser160Asn)
c.128G>A (p.Ser43Asn)
c.944G>A (p.Ser315Asn)
n.1914G>A
 gnomAD v4
Xg.22114519G>CCA412573465PHEXc.1232G>C (p.Ser411Thr)
n.909G>C
c.1235G>C (p.Ser412Thr)
c.479G>C (p.Ser160Thr)
c.128G>C (p.Ser43Thr)
c.944G>C (p.Ser315Thr)
n.1914G>C
Xg.22114519G>TCA412573467PHEXc.1232G>T (p.Ser411Ile)
n.909G>T
c.1235G>T (p.Ser412Ile)
c.479G>T (p.Ser160Ile)
c.128G>T (p.Ser43Ile)
c.944G>T (p.Ser315Ile)
n.1914G>T
Xg.22114520T>ACA412573469PHEXc.1233T>A (p.Ser411Arg)
n.910T>A
c.1236T>A (p.Ser412Arg)
c.480T>A (p.Ser160Arg)
c.129T>A (p.Ser43Arg)
c.945T>A (p.Ser315Arg)
n.1915T>A
Xg.22114520T>CCA515424745PHEXc.1233T>C (p.Ser411=)
n.910T>C
c.1236T>C (p.Ser412=)
c.480T>C (p.Ser160=)
c.129T>C (p.Ser43=)
c.945T>C (p.Ser315=)
n.1915T>C
Xg.22114520T>GCA412573471PHEXc.1233T>G (p.Ser411Arg)
n.910T>G
c.1236T>G (p.Ser412Arg)
c.480T>G (p.Ser160Arg)
c.129T>G (p.Ser43Arg)
c.945T>G (p.Ser315Arg)
n.1915T>G
Xg.22114521G>ACA412573474PHEXc.1234G>A (p.Ala412Thr)
n.911G>A
c.1237G>A (p.Ala413Thr)
c.481G>A (p.Ala161Thr)
c.130G>A (p.Ala44Thr)
c.946G>A (p.Ala316Thr)
n.1916G>A
 dbSNP
Xg.22114521G>CCA412573476PHEXc.1234G>C (p.Ala412Pro)
n.911G>C
c.1237G>C (p.Ala413Pro)
c.481G>C (p.Ala161Pro)
c.130G>C (p.Ala44Pro)
c.946G>C (p.Ala316Pro)
n.1916G>C
 ClinVar dbSNP
Xg.22114521G=CA2419174855PHEXc.1234G= (p.Ala412=)
n.911G=
c.1237G= (p.Ala413=)
c.481G= (p.Ala161=)
c.130G= (p.Ala44=)
c.946G= (p.Ala316=)
n.1916G=
Xg.22114521G>TCA412573478PHEXc.1234G>T (p.Ala412Ser)
n.911G>T
c.1237G>T (p.Ala413Ser)
c.481G>T (p.Ala161Ser)
c.130G>T (p.Ala44Ser)
c.946G>T (p.Ala316Ser)
n.1916G>T
 gnomAD v4
Xg.22114522C>ACA412573482PHEXc.1235C>A (p.Ala412Asp)
n.912C>A
c.1238C>A (p.Ala413Asp)
c.482C>A (p.Ala161Asp)
c.131C>A (p.Ala44Asp)
c.947C>A (p.Ala316Asp)
n.1917C>A
 gnomAD v4
Xg.22114522C>GCA412573484PHEXc.1235C>G (p.Ala412Gly)
n.912C>G
c.1238C>G (p.Ala413Gly)
c.482C>G (p.Ala161Gly)
c.131C>G (p.Ala44Gly)
c.947C>G (p.Ala316Gly)
n.1917C>G
Xg.22114522C>TCA412573480PHEXc.1235C>T (p.Ala412Val)
n.912C>T
c.1238C>T (p.Ala413Val)
c.482C>T (p.Ala161Val)
c.131C>T (p.Ala44Val)
c.947C>T (p.Ala316Val)
n.1917C>T
 gnomAD v4
Xg.22114524delCA2697552905PHEXc.1237del (p.Leu413SerfsTer10)
n.914del
c.1240del (p.Leu414SerfsTer10)
c.484del (p.Leu162SerfsTer10)
c.133del (p.Leu45SerfsTer10)
c.949del (p.Leu317SerfsTer10)
n.1919del
 ClinVar
Xg.22114523C>ACA515424752PHEXc.1236C>A (p.Ala412=)
n.913C>A
c.1239C>A (p.Ala413=)
c.483C>A (p.Ala161=)
c.132C>A (p.Ala44=)
c.948C>A (p.Ala316=)
n.1918C>A
 gnomAD v4
Xg.22114523C>GCA515424754PHEXc.1236C>G (p.Ala412=)
n.913C>G
c.1239C>G (p.Ala413=)
c.483C>G (p.Ala161=)
c.132C>G (p.Ala44=)
c.948C>G (p.Ala316=)
n.1918C>G
Xg.22114523C>TCA515424755PHEXc.1236C>T (p.Ala412=)
n.913C>T
c.1239C>T (p.Ala413=)
c.483C>T (p.Ala161=)
c.132C>T (p.Ala44=)
c.948C>T (p.Ala316=)
n.1918C>T
Xg.22114524C>ACA412573486PHEXc.1237C>A (p.Leu413Ile)
n.914C>A
c.1240C>A (p.Leu414Ile)
c.484C>A (p.Leu162Ile)
c.133C>A (p.Leu45Ile)
c.949C>A (p.Leu317Ile)
n.1919C>A
Xg.22114524C>GCA412573487PHEXc.1237C>G (p.Leu413Val)
n.914C>G
c.1240C>G (p.Leu414Val)
c.484C>G (p.Leu162Val)
c.133C>G (p.Leu45Val)
c.949C>G (p.Leu317Val)
n.1919C>G
Xg.22114524C>TCA412573489PHEXc.1237C>T (p.Leu413Phe)
n.914C>T
c.1240C>T (p.Leu414Phe)
c.484C>T (p.Leu162Phe)
c.133C>T (p.Leu45Phe)
c.949C>T (p.Leu317Phe)
n.1919C>T
Xg.22114524_22114525delinsCTCA2419174856PHEXc.1237_1238delinsCT (p.Leu413=)
n.914_915delinsCT
c.1240_1241delinsCT (p.Leu414=)
c.484_485delinsCT (p.Leu162=)
c.133_134delinsCT (p.Leu45=)
c.949_950delinsCT (p.Leu317=)
n.1919_1920delinsCT
Xg.22114525delCA10603644PHEXc.1238del (p.Leu413ProfsTer10)
n.915del
c.1241del (p.Leu414ProfsTer10)
c.485del (p.Leu162ProfsTer10)
c.134del (p.Leu45ProfsTer10)
c.950del (p.Leu317ProfsTer10)
n.1920del
 ClinVar dbSNP gnomAD v4
Xg.22114525T>ACA412573497PHEXc.1238T>A (p.Leu413His)
n.915T>A
c.1241T>A (p.Leu414His)
c.485T>A (p.Leu162His)
c.134T>A (p.Leu45His)
c.950T>A (p.Leu317His)
n.1920T>A
Xg.22114525T>CCA412573495PHEXc.1238T>C (p.Leu413Pro)
n.915T>C
c.1241T>C (p.Leu414Pro)
c.485T>C (p.Leu162Pro)
c.134T>C (p.Leu45Pro)
c.950T>C (p.Leu317Pro)
n.1920T>C
Xg.22114525T>GCA412573493PHEXc.1238T>G (p.Leu413Arg)
n.915T>G
c.1241T>G (p.Leu414Arg)
c.485T>G (p.Leu162Arg)
c.134T>G (p.Leu45Arg)
c.950T>G (p.Leu317Arg)
n.1920T>G
Xg.22114526C>ACA515424762PHEXc.1239C>A (p.Leu413=)
n.916C>A
c.1242C>A (p.Leu414=)
c.486C>A (p.Leu162=)
c.135C>A (p.Leu45=)
c.951C>A (p.Leu317=)
n.1921C>A
 gnomAD v4
Xg.22114526C>GCA515424763PHEXc.1239C>G (p.Leu413=)
n.916C>G
c.1242C>G (p.Leu414=)
c.486C>G (p.Leu162=)
c.135C>G (p.Leu45=)
c.951C>G (p.Leu317=)
n.1921C>G
 COSMIC
Xg.22114526C>TCA515424765PHEXc.1239C>T (p.Leu413=)
n.916C>T
c.1242C>T (p.Leu414=)
c.486C>T (p.Leu162=)
c.135C>T (p.Leu45=)
c.951C>T (p.Leu317=)
n.1921C>T
Xg.22114527C>ACA412573501PHEXc.1240C>A (p.Pro414Thr)
n.917C>A
c.1243C>A (p.Pro415Thr)
c.487C>A (p.Pro163Thr)
c.136C>A (p.Pro46Thr)
c.952C>A (p.Pro318Thr)
n.1922C>A
Xg.22114527C>GCA412573502PHEXc.1240C>G (p.Pro414Ala)
n.917C>G
c.1243C>G (p.Pro415Ala)
c.487C>G (p.Pro163Ala)
c.136C>G (p.Pro46Ala)
c.952C>G (p.Pro318Ala)
n.1922C>G
Xg.22114527C>TCA412573503PHEXc.1240C>T (p.Pro414Ser)
n.917C>T
c.1243C>T (p.Pro415Ser)
c.487C>T (p.Pro163Ser)
c.136C>T (p.Pro46Ser)
c.952C>T (p.Pro318Ser)
n.1922C>T
Xg.22114528C>ACA412573506PHEXc.1241C>A (p.Pro414His)
n.918C>A
c.1244C>A (p.Pro415His)
c.488C>A (p.Pro163His)
c.137C>A (p.Pro46His)
c.953C>A (p.Pro318His)
n.1923C>A
Xg.22114528C=CA2419174857PHEXc.1241C= (p.Pro414=)
n.918C=
c.1244C= (p.Pro415=)
c.488C= (p.Pro163=)
c.137C= (p.Pro46=)
c.953C= (p.Pro318=)
n.1923C=
Xg.22114528C>GCA412573508PHEXc.1241C>G (p.Pro414Arg)
n.918C>G
c.1244C>G (p.Pro415Arg)
c.488C>G (p.Pro163Arg)
c.137C>G (p.Pro46Arg)
c.953C>G (p.Pro318Arg)
n.1923C>G
 gnomAD v4
Xg.22114528C>TCA412573510PHEXc.1241C>T (p.Pro414Leu)
n.918C>T
c.1244C>T (p.Pro415Leu)
c.488C>T (p.Pro163Leu)
c.137C>T (p.Pro46Leu)
c.953C>T (p.Pro318Leu)
n.1923C>T
 dbSNP gnomAD v4
Xg.22114529T>ACA515424772PHEXc.1242T>A (p.Pro414=)
n.919T>A
c.1245T>A (p.Pro415=)
c.489T>A (p.Pro163=)
c.138T>A (p.Pro46=)
c.954T>A (p.Pro318=)
n.1924T>A
Xg.22114529T>CCA515424773PHEXc.1242T>C (p.Pro414=)
n.919T>C
c.1245T>C (p.Pro415=)
c.489T>C (p.Pro163=)
c.138T>C (p.Pro46=)
c.954T>C (p.Pro318=)
n.1924T>C
 gnomAD v4
Xg.22114529T>GCA515424775PHEXc.1242T>G (p.Pro414=)
n.919T>G
c.1245T>G (p.Pro415=)
c.489T>G (p.Pro163=)
c.138T>G (p.Pro46=)
c.954T>G (p.Pro318=)
n.1924T>G
Xg.22114530T>ACA412573516PHEXc.1243T>A (p.Tyr415Asn)
n.920T>A
c.1246T>A (p.Tyr416Asn)
c.490T>A (p.Tyr164Asn)
c.139T>A (p.Tyr47Asn)
c.955T>A (p.Tyr319Asn)
n.1925T>A
Xg.22114530T>CCA412573514PHEXc.1243T>C (p.Tyr415His)
n.920T>C
c.1246T>C (p.Tyr416His)
c.490T>C (p.Tyr164His)
c.139T>C (p.Tyr47His)
c.955T>C (p.Tyr319His)
n.1925T>C
Xg.22114530T>GCA412573511PHEXc.1243T>G (p.Tyr415Asp)
n.920T>G
c.1246T>G (p.Tyr416Asp)
c.490T>G (p.Tyr164Asp)
c.139T>G (p.Tyr47Asp)
c.955T>G (p.Tyr319Asp)
n.1925T>G
Xg.22114531A>CCA412573518PHEXc.1244A>C (p.Tyr415Ser)
n.921A>C
c.1247A>C (p.Tyr416Ser)
c.491A>C (p.Tyr164Ser)
c.140A>C (p.Tyr47Ser)
c.956A>C (p.Tyr319Ser)
n.1926A>C
Xg.22114531A>GCA412573520PHEXc.1244A>G (p.Tyr415Cys)
n.921A>G
c.1247A>G (p.Tyr416Cys)
c.491A>G (p.Tyr164Cys)
c.140A>G (p.Tyr47Cys)
c.956A>G (p.Tyr319Cys)
n.1926A>G
 gnomAD v4
Xg.22114531A>TCA412573522PHEXc.1244A>T (p.Tyr415Phe)
n.921A>T
c.1247A>T (p.Tyr416Phe)
c.491A>T (p.Tyr164Phe)
c.140A>T (p.Tyr47Phe)
c.956A>T (p.Tyr319Phe)
n.1926A>T
Xg.22114532T>ACA412573524PHEXc.1245T>A (p.Tyr415Ter)
n.922T>A
c.1248T>A (p.Tyr416Ter)
c.492T>A (p.Tyr164Ter)
c.141T>A (p.Tyr47Ter)
c.957T>A (p.Tyr319Ter)
n.1927T>A
Xg.22114532T>CCA10368206PHEXc.1245T>C (p.Tyr415=)
n.922T>C
c.1248T>C (p.Tyr416=)
c.492T>C (p.Tyr164=)
c.141T>C (p.Tyr47=)
c.957T>C (p.Tyr319=)
n.1927T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.22114532T>GCA412573527PHEXc.1245T>G (p.Tyr415Ter)
n.922T>G
c.1248T>G (p.Tyr416Ter)
c.492T>G (p.Tyr164Ter)
c.141T>G (p.Tyr47Ter)
c.957T>G (p.Tyr319Ter)
n.1927T>G
Xg.22114532T=CA2419174858PHEXc.1245T= (p.Tyr415=)
n.922T=
c.1248T= (p.Tyr416=)
c.492T= (p.Tyr164=)
c.141T= (p.Tyr47=)
c.957T= (p.Tyr319=)
n.1927T=
Xg.22114537_22114539delCA2579572147PHEXc.1250_1252del (p.Val417del)
n.927_929del
c.1253_1255del (p.Val418del)
c.497_499del (p.Val166del)
c.146_148del (p.Val49del)
c.962_964del (p.Val321del)
n.1932_1934del
 gnomAD v4
Xg.22114533G>ACA412573533PHEXc.1246G>A (p.Val416Ile)
n.923G>A
c.1249G>A (p.Val417Ile)
c.493G>A (p.Val165Ile)
c.142G>A (p.Val48Ile)
c.958G>A (p.Val320Ile)
n.1928G>A
 ClinVar dbSNP COSMIC COSMIC
Xg.22114533G>CCA412573531PHEXc.1246G>C (p.Val416Leu)
n.923G>C
c.1249G>C (p.Val417Leu)
c.493G>C (p.Val165Leu)
c.142G>C (p.Val48Leu)
c.958G>C (p.Val320Leu)
n.1928G>C
Xg.22114533G=CA2419174859PHEXc.1246G= (p.Val416=)
n.923G=
c.1249G= (p.Val417=)
c.493G= (p.Val165=)
c.142G= (p.Val48=)
c.958G= (p.Val320=)
n.1928G=
Xg.22114533G>TCA412573529PHEXc.1246G>T (p.Val416Phe)
n.923G>T
c.1249G>T (p.Val417Phe)
c.493G>T (p.Val165Phe)
c.142G>T (p.Val48Phe)
c.958G>T (p.Val320Phe)
n.1928G>T
Xg.22114534T>ACA412573536PHEXc.1247T>A (p.Val416Asp)
n.924T>A
c.1250T>A (p.Val417Asp)
c.494T>A (p.Val165Asp)
c.143T>A (p.Val48Asp)
c.959T>A (p.Val320Asp)
n.1929T>A
 gnomAD v4
Xg.22114534T>CCA412573537PHEXc.1247T>C (p.Val416Ala)
n.924T>C
c.1250T>C (p.Val417Ala)
c.494T>C (p.Val165Ala)
c.143T>C (p.Val48Ala)
c.959T>C (p.Val320Ala)
n.1929T>C
 COSMIC COSMIC
Xg.22114534T>GCA412573539PHEXc.1247T>G (p.Val416Gly)
n.924T>G
c.1250T>G (p.Val417Gly)
c.494T>G (p.Val165Gly)
c.143T>G (p.Val48Gly)
c.959T>G (p.Val320Gly)
n.1929T>G
 ClinVar
Xg.22114535delCA2695231538PHEXc.1248del (p.Val417LeufsTer6)
n.925del
c.1251del (p.Val418LeufsTer6)
c.495del (p.Val166LeufsTer6)
c.144del (p.Val49LeufsTer6)
c.960del (p.Val321LeufsTer6)
n.1930del
Xg.22114535T>ACA515424788PHEXc.1248T>A (p.Val416=)
n.925T>A
c.1251T>A (p.Val417=)
c.495T>A (p.Val165=)
c.144T>A (p.Val48=)
c.960T>A (p.Val320=)
n.1930T>A
Xg.22114535T>CCA515424787PHEXc.1248T>C (p.Val416=)
n.925T>C
c.1251T>C (p.Val417=)
c.495T>C (p.Val165=)
c.144T>C (p.Val48=)
c.960T>C (p.Val320=)
n.1930T>C
Xg.22114535T>GCA515424786PHEXc.1248T>G (p.Val416=)
n.925T>G
c.1251T>G (p.Val417=)
c.495T>G (p.Val165=)
c.144T>G (p.Val48=)
c.960T>G (p.Val320=)
n.1930T>G
Xg.22114536G>ACA412573541PHEXc.1249G>A (p.Val417Ile)
n.926G>A
c.1252G>A (p.Val418Ile)
c.496G>A (p.Val166Ile)
c.145G>A (p.Val49Ile)
c.961G>A (p.Val321Ile)
n.1931G>A
Xg.22114536G>CCA412573543PHEXc.1249G>C (p.Val417Leu)
n.926G>C
c.1252G>C (p.Val418Leu)
c.496G>C (p.Val166Leu)
c.145G>C (p.Val49Leu)
c.961G>C (p.Val321Leu)
n.1931G>C
Xg.22114536G>TCA412573545PHEXc.1249G>T (p.Val417Phe)
n.926G>T
c.1252G>T (p.Val418Phe)
c.496G>T (p.Val166Phe)
c.145G>T (p.Val49Phe)
c.961G>T (p.Val321Phe)
n.1931G>T
Xg.22114537T>ACA412573551PHEXc.1250T>A (p.Val417Asp)
n.927T>A
c.1253T>A (p.Val418Asp)
c.497T>A (p.Val166Asp)
c.146T>A (p.Val49Asp)
c.962T>A (p.Val321Asp)
n.1932T>A
Xg.22114537T>CCA412573547PHEXc.1250T>C (p.Val417Ala)
n.927T>C
c.1253T>C (p.Val418Ala)
c.497T>C (p.Val166Ala)
c.146T>C (p.Val49Ala)
c.962T>C (p.Val321Ala)
n.1932T>C
Xg.22114537T>GCA412573548PHEXc.1250T>G (p.Val417Gly)
n.927T>G
c.1253T>G (p.Val418Gly)
c.497T>G (p.Val166Gly)
c.146T>G (p.Val49Gly)
c.962T>G (p.Val321Gly)
n.1932T>G
Xg.22114538T>ACA515424789PHEXc.1251T>A (p.Val417=)
n.928T>A
c.1254T>A (p.Val418=)
c.498T>A (p.Val166=)
c.147T>A (p.Val49=)
c.963T>A (p.Val321=)
n.1933T>A
Xg.22114538T>CCA515424791PHEXc.1251T>C (p.Val417=)
n.928T>C
c.1254T>C (p.Val418=)
c.498T>C (p.Val166=)
c.147T>C (p.Val49=)
c.963T>C (p.Val321=)
n.1933T>C
Xg.22114538T>GCA515424790PHEXc.1251T>G (p.Val417=)
n.928T>G
c.1254T>G (p.Val418=)
c.498T>G (p.Val166=)
c.147T>G (p.Val49=)
c.963T>G (p.Val321=)
n.1933T>G
Xg.22114539G>ACA412573553PHEXc.1252G>A (p.Gly418Arg)
n.929G>A
c.1255G>A (p.Gly419Arg)
c.499G>A (p.Gly167Arg)
c.148G>A (p.Gly50Arg)
c.964G>A (p.Gly322Arg)
n.1934G>A
Xg.22114539G>CCA412573556PHEXc.1252G>C (p.Gly418Arg)
n.929G>C
c.1255G>C (p.Gly419Arg)
c.499G>C (p.Gly167Arg)
c.148G>C (p.Gly50Arg)
c.964G>C (p.Gly322Arg)
n.1934G>C
Xg.22114539G>TCA412573558PHEXc.1252G>T (p.Gly418Ter)
n.929G>T
c.1255G>T (p.Gly419Ter)
c.499G>T (p.Gly167Ter)
c.148G>T (p.Gly50Ter)
c.964G>T (p.Gly322Ter)
n.1934G>T
Xg.22114540G>ACA412573560PHEXc.1253G>A (p.Gly418Glu)
n.930G>A
c.1256G>A (p.Gly419Glu)
c.500G>A (p.Gly167Glu)
c.149G>A (p.Gly50Glu)
c.965G>A (p.Gly322Glu)
n.1935G>A
Xg.22114540G>CCA412573562PHEXc.1253G>C (p.Gly418Ala)
n.930G>C
c.1256G>C (p.Gly419Ala)
c.500G>C (p.Gly167Ala)
c.149G>C (p.Gly50Ala)
c.965G>C (p.Gly322Ala)
n.1935G>C
Xg.22114540G>TCA412573563PHEXc.1253G>T (p.Gly418Val)
n.930G>T
c.1256G>T (p.Gly419Val)
c.500G>T (p.Gly167Val)
c.149G>T (p.Gly50Val)
c.965G>T (p.Gly322Val)
n.1935G>T
Xg.22114541A>CCA515424792PHEXc.1254A>C (p.Gly418=)
n.931A>C
c.1257A>C (p.Gly419=)
c.501A>C (p.Gly167=)
c.150A>C (p.Gly50=)
c.966A>C (p.Gly322=)
n.1936A>C
Xg.22114541A>GCA515424793PHEXc.1254A>G (p.Gly418=)
n.931A>G
c.1257A>G (p.Gly419=)
c.501A>G (p.Gly167=)
c.150A>G (p.Gly50=)
c.966A>G (p.Gly322=)
n.1936A>G
Xg.22114541A>TCA515424794PHEXc.1254A>T (p.Gly418=)
n.931A>T
c.1257A>T (p.Gly419=)
c.501A>T (p.Gly167=)
c.150A>T (p.Gly50=)
c.966A>T (p.Gly322=)
n.1936A>T
Xg.22114541_22114543dupCA2695231539PHEXc.1254_1256dup (p.Lys419_Met420insLys)
n.931_933dup
c.1257_1259dup (p.Lys420_Met421insLys)
c.501_503dup (p.Lys168_Met169insLys)
c.150_152dup (p.Lys51_Met52insLys)
c.966_968dup (p.Lys323_Met324insLys)
n.1936_1938dup
Xg.22114542A>CCA412573569PHEXc.1255A>C (p.Lys419Gln)
n.932A>C
c.1258A>C (p.Lys420Gln)
c.502A>C (p.Lys168Gln)
c.151A>C (p.Lys51Gln)
c.967A>C (p.Lys323Gln)
n.1937A>C
Xg.22114542A>GCA412573566PHEXc.1255A>G (p.Lys419Glu)
n.932A>G
c.1258A>G (p.Lys420Glu)
c.502A>G (p.Lys168Glu)
c.151A>G (p.Lys51Glu)
c.967A>G (p.Lys323Glu)
n.1937A>G
Xg.22114542A>TCA412573568PHEXc.1255A>T (p.Lys419Ter)
n.932A>T
c.1258A>T (p.Lys420Ter)
c.502A>T (p.Lys168Ter)
c.151A>T (p.Lys51Ter)
c.967A>T (p.Lys323Ter)
n.1937A>T
Xg.22114543A>CCA412573571PHEXc.1256A>C (p.Lys419Thr)
n.933A>C
c.1259A>C (p.Lys420Thr)
c.503A>C (p.Lys168Thr)
c.152A>C (p.Lys51Thr)
c.968A>C (p.Lys323Thr)
n.1938A>C
Xg.22114543A>GCA412573573PHEXc.1256A>G (p.Lys419Arg)
n.933A>G
c.1259A>G (p.Lys420Arg)
c.503A>G (p.Lys168Arg)
c.152A>G (p.Lys51Arg)
c.968A>G (p.Lys323Arg)
n.1938A>G
Xg.22114543A>TCA412573575PHEXc.1256A>T (p.Lys419Met)
n.933A>T
c.1259A>T (p.Lys420Met)
c.503A>T (p.Lys168Met)
c.152A>T (p.Lys51Met)
c.968A>T (p.Lys323Met)
n.1938A>T
Xg.22114544G>ACA515424797PHEXc.1257G>A (p.Lys419=)
n.934G>A
c.1260G>A (p.Lys420=)
c.504G>A (p.Lys168=)
c.153G>A (p.Lys51=)
c.969G>A (p.Lys323=)
n.1939G>A
Xg.22114544G>CCA412573577PHEXc.1257G>C (p.Lys419Asn)
n.934G>C
c.1260G>C (p.Lys420Asn)
c.504G>C (p.Lys168Asn)
c.153G>C (p.Lys51Asn)
c.969G>C (p.Lys323Asn)
n.1939G>C
Xg.22114544G>TCA412573579PHEXc.1257G>T (p.Lys419Asn)
n.934G>T
c.1260G>T (p.Lys420Asn)
c.504G>T (p.Lys168Asn)
c.153G>T (p.Lys51Asn)
c.969G>T (p.Lys323Asn)
n.1939G>T
Xg.22114545A=CA2419174860PHEXc.1258A= (p.Met420=)
n.935A=
c.1261A= (p.Met421=)
c.505A= (p.Met169=)
c.154A= (p.Met52=)
c.970A= (p.Met324=)
n.1940A=
Xg.22114545A>CCA412573581PHEXc.1258A>C (p.Met420Leu)
n.935A>C
c.1261A>C (p.Met421Leu)
c.505A>C (p.Met169Leu)
c.154A>C (p.Met52Leu)
c.970A>C (p.Met324Leu)
n.1940A>C
Xg.22114545A>GCA10368207PHEXc.1258A>G (p.Met420Val)
n.935A>G
c.1261A>G (p.Met421Val)
c.505A>G (p.Met169Val)
c.154A>G (p.Met52Val)
c.970A>G (p.Met324Val)
n.1940A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.22114545A>TCA412573584PHEXc.1258A>T (p.Met420Leu)
n.935A>T
c.1261A>T (p.Met421Leu)
c.505A>T (p.Met169Leu)
c.154A>T (p.Met52Leu)
c.970A>T (p.Met324Leu)
n.1940A>T
Xg.22114546T>ACA412573598PHEXc.1259T>A (p.Met420Lys)
n.936T>A
c.1262T>A (p.Met421Lys)
c.506T>A (p.Met169Lys)
c.155T>A (p.Met52Lys)
c.971T>A (p.Met324Lys)
n.1941T>A
Xg.22114546T>CCA412573600PHEXc.1259T>C (p.Met420Thr)
n.936T>C
c.1262T>C (p.Met421Thr)
c.506T>C (p.Met169Thr)
c.155T>C (p.Met52Thr)
c.971T>C (p.Met324Thr)
n.1941T>C
Xg.22114546T>GCA412573601PHEXc.1259T>G (p.Met420Arg)
n.936T>G
c.1262T>G (p.Met421Arg)
c.506T>G (p.Met169Arg)
c.155T>G (p.Met52Arg)
c.971T>G (p.Met324Arg)
n.1941T>G
Xg.22114547delCA2695231540PHEXc.1260del (p.Met420IlefsTer3)
n.937del
c.1263del (p.Met421IlefsTer3)
c.507del (p.Met169IlefsTer3)
c.156del (p.Met52IlefsTer3)
c.972del (p.Met324IlefsTer3)
n.1942del
Xg.22114547G>ACA412573604PHEXc.1260G>A (p.Met420Ile)
n.937G>A
c.1263G>A (p.Met421Ile)
c.507G>A (p.Met169Ile)
c.156G>A (p.Met52Ile)
c.972G>A (p.Met324Ile)
n.1942G>A
 ClinVar
Xg.22114547G>CCA412573606PHEXc.1260G>C (p.Met420Ile)
n.937G>C
c.1263G>C (p.Met421Ile)
c.507G>C (p.Met169Ile)
c.156G>C (p.Met52Ile)
c.972G>C (p.Met324Ile)
n.1942G>C
Xg.22114547G>TCA412573607PHEXc.1260G>T (p.Met420Ile)
n.937G>T
c.1263G>T (p.Met421Ile)
c.507G>T (p.Met169Ile)
c.156G>T (p.Met52Ile)
c.972G>T (p.Met324Ile)
n.1942G>T
Xg.22114548T>ACA412573614PHEXc.1261T>A (p.Phe421Ile)
n.938T>A
c.1264T>A (p.Phe422Ile)
c.508T>A (p.Phe170Ile)
c.157T>A (p.Phe53Ile)
c.973T>A (p.Phe325Ile)
n.1943T>A
Xg.22114548T>CCA412573610PHEXc.1261T>C (p.Phe421Leu)
n.938T>C
c.1264T>C (p.Phe422Leu)
c.508T>C (p.Phe170Leu)
c.157T>C (p.Phe53Leu)
c.973T>C (p.Phe325Leu)
n.1943T>C
Xg.22114548T>GCA412573612PHEXc.1261T>G (p.Phe421Val)
n.938T>G
c.1264T>G (p.Phe422Val)
c.508T>G (p.Phe170Val)
c.157T>G (p.Phe53Val)
c.973T>G (p.Phe325Val)
n.1943T>G
Xg.22114550delCA2573158530PHEXc.1263del (p.Phe421LeufsTer2)
n.940del
c.1266del (p.Phe422LeufsTer2)
c.510del (p.Phe170LeufsTer2)
c.159del (p.Phe53LeufsTer2)
c.975del (p.Phe325LeufsTer2)
n.1945del
 ClinVar dbSNP
Xg.22114549T>ACA412573616PHEXc.1262T>A (p.Phe421Tyr)
n.939T>A
c.1265T>A (p.Phe422Tyr)
c.509T>A (p.Phe170Tyr)
c.158T>A (p.Phe53Tyr)
c.974T>A (p.Phe325Tyr)
n.1944T>A
Xg.22114549T>CCA412573618PHEXc.1262T>C (p.Phe421Ser)
n.939T>C
c.1265T>C (p.Phe422Ser)
c.509T>C (p.Phe170Ser)
c.158T>C (p.Phe53Ser)
c.974T>C (p.Phe325Ser)
n.1944T>C
Xg.22114549T>GCA412573620PHEXc.1262T>G (p.Phe421Cys)
n.939T>G
c.1265T>G (p.Phe422Cys)
c.509T>G (p.Phe170Cys)
c.158T>G (p.Phe53Cys)
c.974T>G (p.Phe325Cys)
n.1944T>G
Xg.22114550T>ACA412573622PHEXc.1263T>A (p.Phe421Leu)
n.940T>A
c.1266T>A (p.Phe422Leu)
c.510T>A (p.Phe170Leu)
c.159T>A (p.Phe53Leu)
c.975T>A (p.Phe325Leu)
n.1945T>A
Xg.22114550T>CCA515424811PHEXc.1263T>C (p.Phe421=)
n.940T>C
c.1266T>C (p.Phe422=)
c.510T>C (p.Phe170=)
c.159T>C (p.Phe53=)
c.975T>C (p.Phe325=)
n.1945T>C
Xg.22114550T>GCA412573625PHEXc.1263T>G (p.Phe421Leu)
n.940T>G
c.1266T>G (p.Phe422Leu)
c.510T>G (p.Phe170Leu)
c.159T>G (p.Phe53Leu)
c.975T>G (p.Phe325Leu)
n.1945T>G
Xg.22114551G>ACA10368208PHEXc.1264G>A (p.Val422Ile)
n.941G>A
c.1267G>A (p.Val423Ile)
c.511G>A (p.Val171Ile)
c.160G>A (p.Val54Ile)
c.976G>A (p.Val326Ile)
n.1946G>A
 dbSNP ExAC gnomAD v2
Xg.22114551G>CCA412573629PHEXc.1264G>C (p.Val422Leu)
n.941G>C
c.1267G>C (p.Val423Leu)
c.511G>C (p.Val171Leu)
c.160G>C (p.Val54Leu)
c.976G>C (p.Val326Leu)
n.1946G>C
Xg.22114551G=CA2419174861PHEXc.1264G= (p.Val422=)
n.941G=
c.1267G= (p.Val423=)
c.511G= (p.Val171=)
c.160G= (p.Val54=)
c.976G= (p.Val326=)
n.1946G=
Xg.22114551G>TCA412573628PHEXc.1264G>T (p.Val422Leu)
n.941G>T
c.1267G>T (p.Val423Leu)
c.511G>T (p.Val171Leu)
c.160G>T (p.Val54Leu)
c.976G>T (p.Val326Leu)
n.1946G>T
Xg.22114552T>ACA412573631PHEXc.1265T>A (p.Val422Glu)
n.942T>A
c.1268T>A (p.Val423Glu)
c.512T>A (p.Val171Glu)
c.161T>A (p.Val54Glu)
c.977T>A (p.Val326Glu)
n.1947T>A
Xg.22114552T>CCA412573632PHEXc.1265T>C (p.Val422Ala)
n.942T>C
c.1268T>C (p.Val423Ala)
c.512T>C (p.Val171Ala)
c.161T>C (p.Val54Ala)
c.977T>C (p.Val326Ala)
n.1947T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.22114552T>GCA412573635PHEXc.1265T>G (p.Val422Gly)
n.942T>G
c.1268T>G (p.Val423Gly)
c.512T>G (p.Val171Gly)
c.161T>G (p.Val54Gly)
c.977T>G (p.Val326Gly)
n.1947T>G
Xg.22114552T=CA2419174862PHEXc.1265T= (p.Val422=)
n.942T=
c.1268T= (p.Val423=)
c.512T= (p.Val171=)
c.161T= (p.Val54=)
c.977T= (p.Val326=)
n.1947T=
Xg.22114552_22114553delinsTACA2419174863PHEXc.1265_1266delinsTA (p.Val422=)
n.942_943delinsTA
c.1268_1269delinsTA (p.Val423=)
c.512_513delinsTA (p.Val171=)
c.161_162delinsTA (p.Val54=)
c.977_978delinsTA (p.Val326=)
n.1947_1948delinsTA
Xg.22114553delCA645509382PHEXc.1266del (p.Asp423MetfsTer?)
n.943del
c.1269del (p.Asp424MetfsTer11)
c.513del (p.Asp172MetfsTer11)
c.162del (p.Asp55MetfsTer11)
c.978del (p.Asp327MetfsTer11)
n.1948del
 ClinVar dbSNP
Xg.22114553A>CCA515424822PHEXc.1266A>C (p.Val422=)
n.943A>C
c.1269A>C (p.Val423=)
c.513A>C (p.Val171=)
c.162A>C (p.Val54=)
c.978A>C (p.Val326=)
n.1948A>C
Xg.22114553A>GCA515424820PHEXc.1266A>G (p.Val422=)
n.943A>G
c.1269A>G (p.Val423=)
c.513A>G (p.Val171=)
c.162A>G (p.Val54=)
c.978A>G (p.Val326=)
n.1948A>G
Xg.22114553A>TCA515424818PHEXc.1266A>T (p.Val422=)
n.943A>T
c.1269A>T (p.Val423=)
c.513A>T (p.Val171=)
c.162A>T (p.Val54=)
c.978A>T (p.Val326=)
n.1948A>T
Xg.22114554G>ACA412573638PHEXc.1267G>A (p.Asp423Asn)
n.944G>A
c.1270G>A (p.Asp424Asn)
c.514G>A (p.Asp172Asn)
c.163G>A (p.Asp55Asn)
c.979G>A (p.Asp327Asn)
n.1949G>A
Xg.22114554G>CCA412573639PHEXc.1267G>C (p.Asp423His)
n.944G>C
c.1270G>C (p.Asp424His)
c.514G>C (p.Asp172His)
c.163G>C (p.Asp55His)
c.979G>C (p.Asp327His)
n.1949G>C
Xg.22114554G>TCA412573641PHEXc.1267G>T (p.Asp423Tyr)
n.944G>T
c.1270G>T (p.Asp424Tyr)
c.514G>T (p.Asp172Tyr)
c.163G>T (p.Asp55Tyr)
c.979G>T (p.Asp327Tyr)
n.1949G>T
Xg.22114555A>CCA412573644PHEXc.1268A>C (p.Asp423Ala)
n.945A>C
c.1271A>C (p.Asp424Ala)
c.515A>C (p.Asp172Ala)
c.164A>C (p.Asp55Ala)
c.980A>C (p.Asp327Ala)
n.1950A>C
Xg.22114555A>GCA412573645PHEXc.1268A>G (p.Asp423Gly)
n.945A>G
c.1271A>G (p.Asp424Gly)
c.515A>G (p.Asp172Gly)
c.164A>G (p.Asp55Gly)
c.980A>G (p.Asp327Gly)
n.1950A>G
 gnomAD v4
Xg.22114555A>TCA412573647PHEXc.1268A>T (p.Asp423Val)
n.945A>T
c.1271A>T (p.Asp424Val)
c.515A>T (p.Asp172Val)
c.164A>T (p.Asp55Val)
c.980A>T (p.Asp327Val)
n.1950A>T
Xg.22114556T>ACA412573650PHEXc.1269T>A (p.Asp423Glu)
n.946T>A
c.1272T>A (p.Asp424Glu)
c.516T>A (p.Asp172Glu)
c.165T>A (p.Asp55Glu)
c.981T>A (p.Asp327Glu)
n.1951T>A
 gnomAD v4
Xg.22114556T>CCA515424831PHEXc.1269T>C (p.Asp423=)
n.946T>C
c.1272T>C (p.Asp424=)
c.516T>C (p.Asp172=)
c.165T>C (p.Asp55=)
c.981T>C (p.Asp327=)
n.1951T>C
 COSMIC COSMIC
Xg.22114556T>GCA412573652PHEXc.1269T>G (p.Asp423Glu)
n.946T>G
c.1272T>G (p.Asp424Glu)
c.516T>G (p.Asp172Glu)
c.165T>G (p.Asp55Glu)
c.981T>G (p.Asp327Glu)
n.1951T>G
Xg.22114557G>ACA412573655PHEXc.1270G>A (p.Val424Met)
n.947G>A
c.1273G>A (p.Val425Met)
c.517G>A (p.Val173Met)
c.166G>A (p.Val56Met)
c.982G>A (p.Val328Met)
n.1952G>A
 gnomAD v4
Xg.22114557G>CCA412573659PHEXc.1270G>C (p.Val424Leu)
n.947G>C
c.1273G>C (p.Val425Leu)
c.517G>C (p.Val173Leu)
c.166G>C (p.Val56Leu)
c.982G>C (p.Val328Leu)
n.1952G>C
Xg.22114557G>TCA412573657PHEXc.1270G>T (p.Val424Leu)
n.947G>T
c.1273G>T (p.Val425Leu)
c.517G>T (p.Val173Leu)
c.166G>T (p.Val56Leu)
c.982G>T (p.Val328Leu)
n.1952G>T
Xg.22114558T>ACA412573661PHEXc.1271T>A (p.Val424Glu)
n.948T>A
c.1274T>A (p.Val425Glu)
c.518T>A (p.Val173Glu)
c.167T>A (p.Val56Glu)
c.983T>A (p.Val328Glu)
n.1953T>A
Xg.22114558T>CCA412573665PHEXc.1271T>C (p.Val424Ala)
n.948T>C
c.1274T>C (p.Val425Ala)
c.518T>C (p.Val173Ala)
c.167T>C (p.Val56Ala)
c.983T>C (p.Val328Ala)
n.1953T>C
Xg.22114558T>GCA412573663PHEXc.1271T>G (p.Val424Gly)
n.948T>G
c.1274T>G (p.Val425Gly)
c.518T>G (p.Val173Gly)
c.167T>G (p.Val56Gly)
c.983T>G (p.Val328Gly)
n.1953T>G
Xg.22114559G>ACA515424836PHEXc.1272G>A (p.Val424=)
n.949G>A
c.1275G>A (p.Val425=)
c.519G>A (p.Val173=)
c.168G>A (p.Val56=)
c.984G>A (p.Val328=)
n.1954G>A
 gnomAD v4
Xg.22114559G>CCA515424837PHEXc.1272G>C (p.Val424=)
n.949G>C
c.1275G>C (p.Val425=)
c.519G>C (p.Val173=)
c.168G>C (p.Val56=)
c.984G>C (p.Val328=)
n.1954G>C
Xg.22114559G>TCA515424839PHEXc.1272G>T (p.Val424=)
n.949G>T
c.1275G>T (p.Val425=)
c.519G>T (p.Val173=)
c.168G>T (p.Val56=)
c.984G>T (p.Val328=)
n.1954G>T
Xg.22114560T>ACA412573666PHEXc.1273T>A (p.Tyr425Asn)
n.950T>A
c.1276T>A (p.Tyr426Asn)
c.520T>A (p.Tyr174Asn)
c.169T>A (p.Tyr57Asn)
c.985T>A (p.Tyr329Asn)
n.1955T>A
Xg.22114560T>CCA412573668PHEXc.1273T>C (p.Tyr425His)
n.950T>C
c.1276T>C (p.Tyr426His)
c.520T>C (p.Tyr174His)
c.169T>C (p.Tyr57His)
c.985T>C (p.Tyr329His)
n.1955T>C
Xg.22114560T>GCA412573670PHEXc.1273T>G (p.Tyr425Asp)
n.950T>G
c.1276T>G (p.Tyr426Asp)
c.520T>G (p.Tyr174Asp)
c.169T>G (p.Tyr57Asp)
c.985T>G (p.Tyr329Asp)
n.1955T>G
Xg.22114561A=CA2419174864PHEXc.1274A= (p.Tyr425=)
n.951A=
c.1277A= (p.Tyr426=)
c.521A= (p.Tyr174=)
c.170A= (p.Tyr57=)
c.986A= (p.Tyr329=)
n.1956A=
Xg.22114561A>CCA412573672PHEXc.1274A>C (p.Tyr425Ser)
n.951A>C
c.1277A>C (p.Tyr426Ser)
c.521A>C (p.Tyr174Ser)
c.170A>C (p.Tyr57Ser)
c.986A>C (p.Tyr329Ser)
n.1956A>C
Xg.22114561A>GCA412573674PHEXc.1274A>G (p.Tyr425Cys)
n.951A>G
c.1277A>G (p.Tyr426Cys)
c.521A>G (p.Tyr174Cys)
c.170A>G (p.Tyr57Cys)
c.986A>G (p.Tyr329Cys)
n.1956A>G
 dbSNP gnomAD v3 gnomAD v4
Xg.22114561A>TCA412573676PHEXc.1274A>T (p.Tyr425Phe)
n.951A>T
c.1277A>T (p.Tyr426Phe)
c.521A>T (p.Tyr174Phe)
c.170A>T (p.Tyr57Phe)
c.986A>T (p.Tyr329Phe)
n.1956A>T
Xg.22114562C>ACA412573678PHEXc.1275C>A (p.Tyr425Ter)
n.952C>A
c.1278C>A (p.Tyr426Ter)
c.522C>A (p.Tyr174Ter)
c.171C>A (p.Tyr57Ter)
c.987C>A (p.Tyr329Ter)
n.1957C>A
Xg.22114562C=CA2419174865PHEXc.1275C= (p.Tyr425=)
n.952C=
c.1278C= (p.Tyr426=)
c.522C= (p.Tyr174=)
c.171C= (p.Tyr57=)
c.987C= (p.Tyr329=)
n.1957C=
Xg.22114562C>GCA412573681PHEXc.1275C>G (p.Tyr425Ter)
n.952C>G
c.1278C>G (p.Tyr426Ter)
c.522C>G (p.Tyr174Ter)
c.171C>G (p.Tyr57Ter)
c.987C>G (p.Tyr329Ter)
n.1957C>G
Xg.22114562C>TCA327523649PHEXc.1275C>T (p.Tyr425=)
n.952C>T
c.1278C>T (p.Tyr426=)
c.522C>T (p.Tyr174=)
c.171C>T (p.Tyr57=)
c.987C>T (p.Tyr329=)
n.1957C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.22114563T>ACA412573685PHEXc.1276T>A (p.Phe426Ile)
n.953T>A
c.1279T>A (p.Phe427Ile)
c.523T>A (p.Phe175Ile)
c.172T>A (p.Phe58Ile)
c.988T>A (p.Phe330Ile)
n.1958T>A
Xg.22114563T>CCA412573686PHEXc.1276T>C (p.Phe426Leu)
n.953T>C
c.1279T>C (p.Phe427Leu)
c.523T>C (p.Phe175Leu)
c.172T>C (p.Phe58Leu)
c.988T>C (p.Phe330Leu)
n.1958T>C
Xg.22114563T>GCA412573688PHEXc.1276T>G (p.Phe426Val)
n.953T>G
c.1279T>G (p.Phe427Val)
c.523T>G (p.Phe175Val)
c.172T>G (p.Phe58Val)
c.988T>G (p.Phe330Val)
n.1958T>G
Xg.22114564T>ACA412573691PHEXc.1277T>A (p.Phe426Tyr)
n.954T>A
c.1280T>A (p.Phe427Tyr)
c.524T>A (p.Phe175Tyr)
c.173T>A (p.Phe58Tyr)
c.989T>A (p.Phe330Tyr)
n.1959T>A
Xg.22114564T>CCA412573695PHEXc.1277T>C (p.Phe426Ser)
n.954T>C
c.1280T>C (p.Phe427Ser)
c.524T>C (p.Phe175Ser)
c.173T>C (p.Phe58Ser)
c.989T>C (p.Phe330Ser)
n.1959T>C
Xg.22114564T>GCA412573693PHEXc.1277T>G (p.Phe426Cys)
n.954T>G
c.1280T>G (p.Phe427Cys)
c.524T>G (p.Phe175Cys)
c.173T>G (p.Phe58Cys)
c.989T>G (p.Phe330Cys)
n.1959T>G
Xg.22114565C>ACA412573697PHEXc.1278C>A (p.Phe426Leu)
n.955C>A
c.1281C>A (p.Phe427Leu)
c.525C>A (p.Phe175Leu)
c.174C>A (p.Phe58Leu)
c.990C>A (p.Phe330Leu)
n.1960C>A
Xg.22114565C>GCA412573699PHEXc.1278C>G (p.Phe426Leu)
n.955C>G
c.1281C>G (p.Phe427Leu)
c.525C>G (p.Phe175Leu)
c.174C>G (p.Phe58Leu)
c.990C>G (p.Phe330Leu)
n.1960C>G
Xg.22114565C>TCA515424851PHEXc.1278C>T (p.Phe426=)
n.955C>T
c.1281C>T (p.Phe427=)
c.525C>T (p.Phe175=)
c.174C>T (p.Phe58=)
c.990C>T (p.Phe330=)
n.1960C>T
Xg.22114566C>ACA412573701PHEXc.1279C>A (p.Gln427Lys)
n.956C>A
c.1282C>A (p.Gln428Lys)
c.526C>A (p.Gln176Lys)
c.175C>A (p.Gln59Lys)
c.991C>A (p.Gln331Lys)
n.1961C>A
Xg.22114566C>GCA412573702PHEXc.1279C>G (p.Gln427Glu)
n.956C>G
c.1282C>G (p.Gln428Glu)
c.526C>G (p.Gln176Glu)
c.175C>G (p.Gln59Glu)
c.991C>G (p.Gln331Glu)
n.1961C>G
Xg.22114566C>TCA412573707PHEXc.1279C>T (p.Gln427Ter)
n.956C>T
c.1282C>T (p.Gln428Ter)
c.526C>T (p.Gln176Ter)
c.175C>T (p.Gln59Ter)
c.991C>T (p.Gln331Ter)
n.1961C>T
 ClinVar dbSNP
Xg.22114567delCA2580100497PHEXc.1280del (p.Gln427ArgfsTer?)
n.957del
c.1283del (p.Gln428ArgfsTer7)
c.527del (p.Gln176ArgfsTer7)
c.176del (p.Gln59ArgfsTer7)
c.992del (p.Gln331ArgfsTer7)
n.1962del
 ClinVar
Xg.22114567A>CCA412573710PHEXc.1280A>C (p.Gln427Pro)
n.957A>C
c.1283A>C (p.Gln428Pro)
c.527A>C (p.Gln176Pro)
c.176A>C (p.Gln59Pro)
c.992A>C (p.Gln331Pro)
n.1962A>C
Xg.22114567A>GCA412573712PHEXc.1280A>G (p.Gln427Arg)
n.957A>G
c.1283A>G (p.Gln428Arg)
c.527A>G (p.Gln176Arg)
c.176A>G (p.Gln59Arg)
c.992A>G (p.Gln331Arg)
n.1962A>G
 COSMIC COSMIC
Xg.22114567A>TCA412573714PHEXc.1280A>T (p.Gln427Leu)
n.957A>T
c.1283A>T (p.Gln428Leu)
c.527A>T (p.Gln176Leu)
c.176A>T (p.Gln59Leu)
c.992A>T (p.Gln331Leu)
n.1962A>T

Number of alleles fetched