Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.189868635A=CA1428495825TP63c.1048A= (p.Arg350=)
c.766A= (p.Arg256=)
c.511A= (p.Arg171=)
n.872A=
c.997A= (p.Arg333=)
c.1045A= (p.Arg349=)
c.1042A= (p.Arg348=)
c.1009A= (p.Arg337=)
3g.189868635A>CCA437413513TP63c.1048A>C (p.Arg350=)
c.766A>C (p.Arg256=)
c.511A>C (p.Arg171=)
n.872A>C
c.997A>C (p.Arg333=)
c.1045A>C (p.Arg349=)
c.1042A>C (p.Arg348=)
c.1009A>C (p.Arg337=)
3g.189868635A>GCA16042468TP63c.1048A>G (p.Arg350Gly)
c.766A>G (p.Arg256Gly)
c.511A>G (p.Arg171Gly)
n.872A>G
c.997A>G (p.Arg333Gly)
c.1045A>G (p.Arg349Gly)
c.1042A>G (p.Arg348Gly)
c.1009A>G (p.Arg337Gly)
ClinVar dbSNP
3g.189868635A>TCA355755199TP63c.1048A>T (p.Arg350Ter)
c.766A>T (p.Arg256Ter)
c.511A>T (p.Arg171Ter)
n.872A>T
c.997A>T (p.Arg333Ter)
c.1045A>T (p.Arg349Ter)
c.1042A>T (p.Arg348Ter)
c.1009A>T (p.Arg337Ter)
dbSNP
3g.189868636G>ACA355755200TP63c.1049G>A (p.Arg350Lys)
c.767G>A (p.Arg256Lys)
c.512G>A (p.Arg171Lys)
n.873G>A
c.998G>A (p.Arg333Lys)
c.1046G>A (p.Arg349Lys)
c.1043G>A (p.Arg348Lys)
c.1010G>A (p.Arg337Lys)
dbSNP COSMIC COSMIC COSMIC
3g.189868636G>CCA355755202TP63c.1049G>C (p.Arg350Thr)
c.767G>C (p.Arg256Thr)
c.512G>C (p.Arg171Thr)
n.873G>C
c.998G>C (p.Arg333Thr)
c.1046G>C (p.Arg349Thr)
c.1043G>C (p.Arg348Thr)
c.1010G>C (p.Arg337Thr)
dbSNP COSMIC COSMIC COSMIC
3g.189868636G>TCA355755201TP63c.1049G>T (p.Arg350Ile)
c.767G>T (p.Arg256Ile)
c.512G>T (p.Arg171Ile)
n.873G>T
c.998G>T (p.Arg333Ile)
c.1046G>T (p.Arg349Ile)
c.1043G>T (p.Arg348Ile)
c.1010G>T (p.Arg337Ile)
COSMIC COSMIC COSMIC
3g.189868637A>CCA355755203TP63c.1050A>C (p.Arg350Ser)
c.768A>C (p.Arg256Ser)
c.513A>C (p.Arg171Ser)
n.874A>C
c.999A>C (p.Arg333Ser)
c.1047A>C (p.Arg349Ser)
c.1044A>C (p.Arg348Ser)
c.1011A>C (p.Arg337Ser)
3g.189868637A>GCA437413521TP63c.1050A>G (p.Arg350=)
c.768A>G (p.Arg256=)
c.513A>G (p.Arg171=)
n.874A>G
c.999A>G (p.Arg333=)
c.1047A>G (p.Arg349=)
c.1044A>G (p.Arg348=)
c.1011A>G (p.Arg337=)
3g.189868637A>TCA355755204TP63c.1050A>T (p.Arg350Ser)
c.768A>T (p.Arg256Ser)
c.513A>T (p.Arg171Ser)
n.874A>T
c.999A>T (p.Arg333Ser)
c.1047A>T (p.Arg349Ser)
c.1044A>T (p.Arg348Ser)
c.1011A>T (p.Arg337Ser)
ClinVar dbSNP
3g.189868638G>ACA355755205TP63c.1051G>A (p.Asp351Asn)
c.769G>A (p.Asp257Asn)
c.514G>A (p.Asp172Asn)
n.875G>A
c.1000G>A (p.Asp334Asn)
c.1048G>A (p.Asp350Asn)
c.1045G>A (p.Asp349Asn)
c.1012G>A (p.Asp338Asn)
3g.189868638G>CCA355755206TP63c.1051G>C (p.Asp351His)
c.769G>C (p.Asp257His)
c.514G>C (p.Asp172His)
n.875G>C
c.1000G>C (p.Asp334His)
c.1048G>C (p.Asp350His)
c.1045G>C (p.Asp349His)
c.1012G>C (p.Asp338His)
dbSNP
3g.189868638G>TCA355755207TP63c.1051G>T (p.Asp351Tyr)
c.769G>T (p.Asp257Tyr)
c.514G>T (p.Asp172Tyr)
n.875G>T
c.1000G>T (p.Asp334Tyr)
c.1048G>T (p.Asp350Tyr)
c.1045G>T (p.Asp349Tyr)
c.1012G>T (p.Asp338Tyr)
3g.189868639A=CA1428495839TP63c.1052A= (p.Asp351=)
c.770A= (p.Asp257=)
c.515A= (p.Asp172=)
n.876A=
c.1001A= (p.Asp334=)
c.1049A= (p.Asp350=)
c.1046A= (p.Asp349=)
c.1013A= (p.Asp338=)
3g.189868639A>CCA355755208TP63c.1052A>C (p.Asp351Ala)
c.770A>C (p.Asp257Ala)
c.515A>C (p.Asp172Ala)
n.876A>C
c.1001A>C (p.Asp334Ala)
c.1049A>C (p.Asp350Ala)
c.1046A>C (p.Asp349Ala)
c.1013A>C (p.Asp338Ala)
3g.189868639A>GCA118341TP63c.1052A>G (p.Asp351Gly)
c.770A>G (p.Asp257Gly)
c.515A>G (p.Asp172Gly)
n.876A>G
c.1001A>G (p.Asp334Gly)
c.1049A>G (p.Asp350Gly)
c.1046A>G (p.Asp349Gly)
c.1013A>G (p.Asp338Gly)
ClinVar dbSNP
3g.189868639A>TCA355755209TP63c.1052A>T (p.Asp351Val)
c.770A>T (p.Asp257Val)
c.515A>T (p.Asp172Val)
n.876A>T
c.1001A>T (p.Asp334Val)
c.1049A>T (p.Asp350Val)
c.1046A>T (p.Asp349Val)
c.1013A>T (p.Asp338Val)
dbSNP
3g.189868640C>ACA355755210TP63c.1053C>A (p.Asp351Glu)
c.771C>A (p.Asp257Glu)
c.516C>A (p.Asp172Glu)
n.877C>A
c.1002C>A (p.Asp334Glu)
c.1050C>A (p.Asp350Glu)
c.1047C>A (p.Asp349Glu)
c.1014C>A (p.Asp338Glu)
3g.189868640C>GCA355755211TP63c.1053C>G (p.Asp351Glu)
c.771C>G (p.Asp257Glu)
c.516C>G (p.Asp172Glu)
n.877C>G
c.1002C>G (p.Asp334Glu)
c.1050C>G (p.Asp350Glu)
c.1047C>G (p.Asp349Glu)
c.1014C>G (p.Asp338Glu)
dbSNP
3g.189868640C>TCA437413530TP63c.1053C>T (p.Asp351=)
c.771C>T (p.Asp257=)
c.516C>T (p.Asp172=)
n.877C>T
c.1002C>T (p.Asp334=)
c.1050C>T (p.Asp350=)
c.1047C>T (p.Asp349=)
c.1014C>T (p.Asp338=)
dbSNP gnomAD v4
3g.189868641A=CA1428495849TP63c.1054A= (p.Arg352=)
c.772A= (p.Arg258=)
c.517A= (p.Arg173=)
n.878A=
c.1003A= (p.Arg335=)
c.1051A= (p.Arg351=)
c.1048A= (p.Arg350=)
c.1015A= (p.Arg339=)
3g.189868641A>CCA437413531TP63c.1054A>C (p.Arg352=)
c.772A>C (p.Arg258=)
c.517A>C (p.Arg173=)
n.878A>C
c.1003A>C (p.Arg335=)
c.1051A>C (p.Arg351=)
c.1048A>C (p.Arg350=)
c.1015A>C (p.Arg339=)
3g.189868641A>GCA118344TP63c.1054A>G (p.Arg352Gly)
c.772A>G (p.Arg258Gly)
c.517A>G (p.Arg173Gly)
n.878A>G
c.1003A>G (p.Arg335Gly)
c.1051A>G (p.Arg351Gly)
c.1048A>G (p.Arg350Gly)
c.1015A>G (p.Arg339Gly)
ClinVar dbSNP
3g.189868641A>TCA355755212TP63c.1054A>T (p.Arg352Trp)
c.772A>T (p.Arg258Trp)
c.517A>T (p.Arg173Trp)
n.878A>T
c.1003A>T (p.Arg335Trp)
c.1051A>T (p.Arg351Trp)
c.1048A>T (p.Arg350Trp)
c.1015A>T (p.Arg339Trp)
dbSNP
3g.189868642G>ACA2752331TP63c.1055G>A (p.Arg352Lys)
c.773G>A (p.Arg258Lys)
c.518G>A (p.Arg173Lys)
n.879G>A
c.1004G>A (p.Arg335Lys)
c.1052G>A (p.Arg351Lys)
c.1049G>A (p.Arg350Lys)
c.1016G>A (p.Arg339Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.189868642G>CCA355755213TP63c.1055G>C (p.Arg352Thr)
c.773G>C (p.Arg258Thr)
c.518G>C (p.Arg173Thr)
n.879G>C
c.1004G>C (p.Arg335Thr)
c.1052G>C (p.Arg351Thr)
c.1049G>C (p.Arg350Thr)
c.1016G>C (p.Arg339Thr)
dbSNP
3g.189868642G=CA1428495858TP63c.1055G= (p.Arg352=)
c.773G= (p.Arg258=)
c.518G= (p.Arg173=)
n.879G=
c.1004G= (p.Arg335=)
c.1052G= (p.Arg351=)
c.1049G= (p.Arg350=)
c.1016G= (p.Arg339=)
3g.189868642G>TCA355755214TP63c.1055G>T (p.Arg352Met)
c.773G>T (p.Arg258Met)
c.518G>T (p.Arg173Met)
n.879G>T
c.1004G>T (p.Arg335Met)
c.1052G>T (p.Arg351Met)
c.1049G>T (p.Arg350Met)
c.1016G>T (p.Arg339Met)
3g.189868643G>ACA437413540TP63c.1056G>A (p.Arg352=)
c.774G>A (p.Arg258=)
c.519G>A (p.Arg173=)
n.880G>A
c.1005G>A (p.Arg335=)
c.1053G>A (p.Arg351=)
c.1050G>A (p.Arg350=)
c.1017G>A (p.Arg339=)
dbSNP
3g.189868643G>CCA355755215TP63c.1056G>C (p.Arg352Ser)
c.774G>C (p.Arg258Ser)
c.519G>C (p.Arg173Ser)
n.880G>C
c.1005G>C (p.Arg335Ser)
c.1053G>C (p.Arg351Ser)
c.1050G>C (p.Arg350Ser)
c.1017G>C (p.Arg339Ser)
dbSNP
3g.189868643G>TCA355755216TP63c.1056G>T (p.Arg352Ser)
c.774G>T (p.Arg258Ser)
c.519G>T (p.Arg173Ser)
n.880G>T
c.1005G>T (p.Arg335Ser)
c.1053G>T (p.Arg351Ser)
c.1050G>T (p.Arg350Ser)
c.1017G>T (p.Arg339Ser)
3g.189868644A>CCA355755217TP63c.1057A>C (p.Lys353Gln)
c.775A>C (p.Lys259Gln)
c.520A>C (p.Lys174Gln)
n.881A>C
c.1006A>C (p.Lys336Gln)
c.1054A>C (p.Lys352Gln)
c.1051A>C (p.Lys351Gln)
c.1018A>C (p.Lys340Gln)
3g.189868644A>GCA355755218TP63c.1057A>G (p.Lys353Glu)
c.775A>G (p.Lys259Glu)
c.520A>G (p.Lys174Glu)
n.881A>G
c.1006A>G (p.Lys336Glu)
c.1054A>G (p.Lys352Glu)
c.1051A>G (p.Lys351Glu)
c.1018A>G (p.Lys340Glu)
3g.189868644A>TCA355755219TP63c.1057A>T (p.Lys353Ter)
c.775A>T (p.Lys259Ter)
c.520A>T (p.Lys174Ter)
n.881A>T
c.1006A>T (p.Lys336Ter)
c.1054A>T (p.Lys352Ter)
c.1051A>T (p.Lys351Ter)
c.1018A>T (p.Lys340Ter)
dbSNP
3g.189868645A>CCA355755220TP63c.1058A>C (p.Lys353Thr)
c.776A>C (p.Lys259Thr)
c.521A>C (p.Lys174Thr)
n.882A>C
c.1007A>C (p.Lys336Thr)
c.1055A>C (p.Lys352Thr)
c.1052A>C (p.Lys351Thr)
c.1019A>C (p.Lys340Thr)
3g.189868645A>GCA355755221TP63c.1058A>G (p.Lys353Arg)
c.776A>G (p.Lys259Arg)
c.521A>G (p.Lys174Arg)
n.882A>G
c.1007A>G (p.Lys336Arg)
c.1055A>G (p.Lys352Arg)
c.1052A>G (p.Lys351Arg)
c.1019A>G (p.Lys340Arg)
3g.189868645A>TCA355755222TP63c.1058A>T (p.Lys353Met)
c.776A>T (p.Lys259Met)
c.521A>T (p.Lys174Met)
n.882A>T
c.1007A>T (p.Lys336Met)
c.1055A>T (p.Lys352Met)
c.1052A>T (p.Lys351Met)
c.1019A>T (p.Lys340Met)
dbSNP
3g.189868646G>ACA437413549TP63c.1059G>A (p.Lys353=)
c.777G>A (p.Lys259=)
c.522G>A (p.Lys174=)
n.883G>A
c.1008G>A (p.Lys336=)
c.1056G>A (p.Lys352=)
c.1053G>A (p.Lys351=)
c.1020G>A (p.Lys340=)
dbSNP
3g.189868646G>CCA355755223TP63c.1059G>C (p.Lys353Asn)
c.777G>C (p.Lys259Asn)
c.522G>C (p.Lys174Asn)
n.883G>C
c.1008G>C (p.Lys336Asn)
c.1056G>C (p.Lys352Asn)
c.1053G>C (p.Lys351Asn)
c.1020G>C (p.Lys340Asn)
dbSNP
3g.189868646G>TCA355755224TP63c.1059G>T (p.Lys353Asn)
c.777G>T (p.Lys259Asn)
c.522G>T (p.Lys174Asn)
n.883G>T
c.1008G>T (p.Lys336Asn)
c.1056G>T (p.Lys352Asn)
c.1053G>T (p.Lys351Asn)
c.1020G>T (p.Lys340Asn)
dbSNP
3g.189868647G>ACA355755227TP63c.1060G>A (p.Ala354Thr)
c.778G>A (p.Ala260Thr)
c.523G>A (p.Ala175Thr)
n.884G>A
c.1009G>A (p.Ala337Thr)
c.1057G>A (p.Ala353Thr)
c.1054G>A (p.Ala352Thr)
c.1021G>A (p.Ala341Thr)
dbSNP
3g.189868647G>CCA355755226TP63c.1060G>C (p.Ala354Pro)
c.778G>C (p.Ala260Pro)
c.523G>C (p.Ala175Pro)
n.884G>C
c.1009G>C (p.Ala337Pro)
c.1057G>C (p.Ala353Pro)
c.1054G>C (p.Ala352Pro)
c.1021G>C (p.Ala341Pro)
dbSNP
3g.189868647G>TCA355755225TP63c.1060G>T (p.Ala354Ser)
c.778G>T (p.Ala260Ser)
c.523G>T (p.Ala175Ser)
n.884G>T
c.1009G>T (p.Ala337Ser)
c.1057G>T (p.Ala353Ser)
c.1054G>T (p.Ala352Ser)
c.1021G>T (p.Ala341Ser)
dbSNP
3g.189868648C>ACA355755228TP63c.1061C>A (p.Ala354Glu)
c.779C>A (p.Ala260Glu)
c.524C>A (p.Ala175Glu)
n.885C>A
c.1010C>A (p.Ala337Glu)
c.1058C>A (p.Ala353Glu)
c.1055C>A (p.Ala352Glu)
c.1022C>A (p.Ala341Glu)
ClinVar dbSNP
3g.189868648C=CA1428495868TP63c.1061C= (p.Ala354=)
c.779C= (p.Ala260=)
c.524C= (p.Ala175=)
n.885C=
c.1010C= (p.Ala337=)
c.1058C= (p.Ala353=)
c.1055C= (p.Ala352=)
c.1022C= (p.Ala341=)
3g.189868648C>GCA355755229TP63c.1061C>G (p.Ala354Gly)
c.779C>G (p.Ala260Gly)
c.524C>G (p.Ala175Gly)
n.885C>G
c.1010C>G (p.Ala337Gly)
c.1058C>G (p.Ala353Gly)
c.1055C>G (p.Ala352Gly)
c.1022C>G (p.Ala341Gly)
dbSNP
3g.189868648C>TCA355755230TP63c.1061C>T (p.Ala354Val)
c.779C>T (p.Ala260Val)
c.524C>T (p.Ala175Val)
n.885C>T
c.1010C>T (p.Ala337Val)
c.1058C>T (p.Ala353Val)
c.1055C>T (p.Ala352Val)
c.1022C>T (p.Ala341Val)
gnomAD v4 COSMIC COSMIC
3g.189868649G>ACA2752332TP63c.1062G>A (p.Ala354=)
c.780G>A (p.Ala260=)
c.525G>A (p.Ala175=)
n.886G>A
c.1011G>A (p.Ala337=)
c.1059G>A (p.Ala353=)
c.1056G>A (p.Ala352=)
c.1023G>A (p.Ala341=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189868649G>CCA437413560TP63c.1062G>C (p.Ala354=)
c.780G>C (p.Ala260=)
c.525G>C (p.Ala175=)
n.886G>C
c.1011G>C (p.Ala337=)
c.1059G>C (p.Ala353=)
c.1056G>C (p.Ala352=)
c.1023G>C (p.Ala341=)
3g.189868649G=CA1428495876TP63c.1062G= (p.Ala354=)
c.780G= (p.Ala260=)
c.525G= (p.Ala175=)
n.886G=
c.1011G= (p.Ala337=)
c.1059G= (p.Ala353=)
c.1056G= (p.Ala352=)
c.1023G= (p.Ala341=)

Number of alleles fetched