Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.48756070_48756072delCA2628343358CEP152c.3178_3180del (p.Glu1060del)
c.2899_2901del (p.Glu967del)
c.1219_1221del (p.Glu407del)
c.1213_1215del (p.Glu405del)
n.4143_4145del
n.4129_4131del
 gnomAD v4
15g.48756070C>ACA392342062CEP152c.3178G>T (p.Glu1060Ter)
c.2899G>T (p.Glu967Ter)
c.1219G>T (p.Glu407Ter)
c.1213G>T (p.Glu405Ter)
n.4143G>T
n.4129G>T
15g.48756070C=CA2175628515CEP152c.3178G= (p.Glu1060=)
c.2899G= (p.Glu967=)
c.1219G= (p.Glu407=)
c.1213G= (p.Glu405=)
n.4143G=
n.4129G=
15g.48756070C>GCA392342064CEP152c.3178G>C (p.Glu1060Gln)
c.2899G>C (p.Glu967Gln)
c.1219G>C (p.Glu407Gln)
c.1213G>C (p.Glu405Gln)
n.4143G>C
n.4129G>C
15g.48756070C>TCA7548410CEP152c.3178G>A (p.Glu1060Lys)
c.2899G>A (p.Glu967Lys)
c.1219G>A (p.Glu407Lys)
c.1213G>A (p.Glu405Lys)
n.4143G>A
n.4129G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756071delCA2628343361CEP152c.3178del (p.Glu1060SerfsTer?)
c.2899del (p.Glu967SerfsTer?)
c.1219del (p.Glu407SerfsTer?)
c.1213del (p.Glu405SerfsTer?)
n.4143del
n.4129del
 gnomAD v4
15g.48756071C>ACA392342067CEP152c.3177G>T (p.Lys1059Asn)
c.2898G>T (p.Lys966Asn)
c.1218G>T (p.Lys406Asn)
c.1212G>T (p.Lys404Asn)
n.4142G>T
n.4128G>T
15g.48756071C>GCA392342070CEP152c.3177G>C (p.Lys1059Asn)
c.2898G>C (p.Lys966Asn)
c.1218G>C (p.Lys406Asn)
c.1212G>C (p.Lys404Asn)
n.4142G>C
n.4128G>C
15g.48756071C>TCA490311173CEP152c.3177G>A (p.Lys1059=)
c.2898G>A (p.Lys966=)
c.1218G>A (p.Lys406=)
c.1212G>A (p.Lys404=)
n.4142G>A
n.4128G>A
15g.48756072T>ACA392342072CEP152c.3176A>T (p.Lys1059Met)
c.2897A>T (p.Lys966Met)
c.1217A>T (p.Lys406Met)
c.1211A>T (p.Lys404Met)
n.4141A>T
n.4127A>T
15g.48756072T>CCA392342074CEP152c.3176A>G (p.Lys1059Arg)
c.2897A>G (p.Lys966Arg)
c.1217A>G (p.Lys406Arg)
c.1211A>G (p.Lys404Arg)
n.4141A>G
n.4127A>G
15g.48756072T>GCA392342076CEP152c.3176A>C (p.Lys1059Thr)
c.2897A>C (p.Lys966Thr)
c.1217A>C (p.Lys406Thr)
c.1211A>C (p.Lys404Thr)
n.4141A>C
n.4127A>C
15g.48756075delCA2575718053CEP152c.3176del (p.Lys1059ArgfsTer?)
c.2897del (p.Lys966ArgfsTer?)
c.1217del (p.Lys406ArgfsTer?)
c.1211del (p.Lys404ArgfsTer?)
n.4141del
n.4127del
15g.48756073T>ACA392342077CEP152c.3175A>T (p.Lys1059Ter)
c.2896A>T (p.Lys966Ter)
c.1216A>T (p.Lys406Ter)
c.1210A>T (p.Lys404Ter)
n.4140A>T
n.4126A>T
15g.48756073T>CCA392342080CEP152c.3175A>G (p.Lys1059Glu)
c.2896A>G (p.Lys966Glu)
c.1216A>G (p.Lys406Glu)
c.1210A>G (p.Lys404Glu)
n.4140A>G
n.4126A>G
15g.48756073T>GCA392342083CEP152c.3175A>C (p.Lys1059Gln)
c.2896A>C (p.Lys966Gln)
c.1216A>C (p.Lys406Gln)
c.1210A>C (p.Lys404Gln)
n.4140A>C
n.4126A>C
15g.48756074T>ACA392342084CEP152c.3174A>T (p.Gln1058His)
c.2895A>T (p.Gln965His)
c.1215A>T (p.Gln405His)
c.1209A>T (p.Gln403His)
n.4139A>T
n.4125A>T
15g.48756074T>CCA490311174CEP152c.3174A>G (p.Gln1058=)
c.2895A>G (p.Gln965=)
c.1215A>G (p.Gln405=)
c.1209A>G (p.Gln403=)
n.4139A>G
n.4125A>G
15g.48756074T>GCA392342086CEP152c.3174A>C (p.Gln1058His)
c.2895A>C (p.Gln965His)
c.1215A>C (p.Gln405His)
c.1209A>C (p.Gln403His)
n.4139A>C
n.4125A>C
15g.48756075T>ACA392342087CEP152c.3173A>T (p.Gln1058Leu)
c.2894A>T (p.Gln965Leu)
c.1214A>T (p.Gln405Leu)
c.1208A>T (p.Gln403Leu)
n.4138A>T
n.4124A>T
15g.48756075T>CCA392342090CEP152c.3173A>G (p.Gln1058Arg)
c.2894A>G (p.Gln965Arg)
c.1214A>G (p.Gln405Arg)
c.1208A>G (p.Gln403Arg)
n.4138A>G
n.4124A>G
15g.48756075T>GCA7548411CEP152c.3173A>C (p.Gln1058Pro)
c.2894A>C (p.Gln965Pro)
c.1214A>C (p.Gln405Pro)
c.1208A>C (p.Gln403Pro)
n.4138A>C
n.4124A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756075T=CA2175628518CEP152c.3173A= (p.Gln1058=)
c.2894A= (p.Gln965=)
c.1214A= (p.Gln405=)
c.1208A= (p.Gln403=)
n.4138A=
n.4124A=
15g.48756076G>ACA392342093CEP152c.3172C>T (p.Gln1058Ter)
c.2893C>T (p.Gln965Ter)
c.1213C>T (p.Gln405Ter)
c.1207C>T (p.Gln403Ter)
n.4137C>T
n.4123C>T
 COSMIC COSMIC
15g.48756076G>CCA392342097CEP152c.3172C>G (p.Gln1058Glu)
c.2893C>G (p.Gln965Glu)
c.1213C>G (p.Gln405Glu)
c.1207C>G (p.Gln403Glu)
n.4137C>G
n.4123C>G
15g.48756076G>TCA392342098CEP152c.3172C>A (p.Gln1058Lys)
c.2893C>A (p.Gln965Lys)
c.1213C>A (p.Gln405Lys)
c.1207C>A (p.Gln403Lys)
n.4137C>A
n.4123C>A
15g.48756078delCA2628343362CEP152c.3172del (p.Gln1058LysfsTer?)
c.2893del (p.Gln965LysfsTer?)
c.1213del (p.Gln405LysfsTer?)
c.1207del (p.Gln403LysfsTer?)
n.4137del
n.4123del
 ClinVar gnomAD v4
15g.48756077G>ACA490311175CEP152c.3171C>T (p.Thr1057=)
c.2892C>T (p.Thr964=)
c.1212C>T (p.Thr404=)
c.1206C>T (p.Thr402=)
n.4136C>T
n.4122C>T
15g.48756077G>CCA490311176CEP152c.3171C>G (p.Thr1057=)
c.2892C>G (p.Thr964=)
c.1212C>G (p.Thr404=)
c.1206C>G (p.Thr402=)
n.4136C>G
n.4122C>G
15g.48756077G>TCA490311177CEP152c.3171C>A (p.Thr1057=)
c.2892C>A (p.Thr964=)
c.1212C>A (p.Thr404=)
c.1206C>A (p.Thr402=)
n.4136C>A
n.4122C>A
15g.48756078G>ACA392342101CEP152c.3170C>T (p.Thr1057Ile)
c.2891C>T (p.Thr964Ile)
c.1211C>T (p.Thr404Ile)
c.1205C>T (p.Thr402Ile)
n.4135C>T
n.4121C>T
 dbSNP
15g.48756078G>CCA392342103CEP152c.3170C>G (p.Thr1057Ser)
c.2891C>G (p.Thr964Ser)
c.1211C>G (p.Thr404Ser)
c.1205C>G (p.Thr402Ser)
n.4135C>G
n.4121C>G
15g.48756078G>TCA392342106CEP152c.3170C>A (p.Thr1057Asn)
c.2891C>A (p.Thr964Asn)
c.1211C>A (p.Thr404Asn)
c.1205C>A (p.Thr402Asn)
n.4135C>A
n.4121C>A
 gnomAD v4
15g.48756079T>ACA392342108CEP152c.3169A>T (p.Thr1057Ser)
c.2890A>T (p.Thr964Ser)
c.1210A>T (p.Thr404Ser)
c.1204A>T (p.Thr402Ser)
n.4134A>T
n.4120A>T
15g.48756079T>CCA392342109CEP152c.3169A>G (p.Thr1057Ala)
c.2890A>G (p.Thr964Ala)
c.1210A>G (p.Thr404Ala)
c.1204A>G (p.Thr402Ala)
n.4134A>G
n.4120A>G
 gnomAD v4
15g.48756079T>GCA392342110CEP152c.3169A>C (p.Thr1057Pro)
c.2890A>C (p.Thr964Pro)
c.1210A>C (p.Thr404Pro)
c.1204A>C (p.Thr402Pro)
n.4134A>C
n.4120A>C
15g.48756080A>CCA392342112CEP152c.3168T>G (p.Asp1056Glu)
c.2889T>G (p.Asp963Glu)
c.1209T>G (p.Asp403Glu)
c.1203T>G (p.Asp401Glu)
n.4133T>G
n.4119T>G
15g.48756080A>GCA490311178CEP152c.3168T>C (p.Asp1056=)
c.2889T>C (p.Asp963=)
c.1209T>C (p.Asp403=)
c.1203T>C (p.Asp401=)
n.4133T>C
n.4119T>C
 ClinVar
15g.48756080A>TCA392342114CEP152c.3168T>A (p.Asp1056Glu)
c.2889T>A (p.Asp963Glu)
c.1209T>A (p.Asp403Glu)
c.1203T>A (p.Asp401Glu)
n.4133T>A
n.4119T>A
15g.48756081T>ACA392342119CEP152c.3167A>T (p.Asp1056Val)
c.2888A>T (p.Asp963Val)
c.1208A>T (p.Asp403Val)
c.1202A>T (p.Asp401Val)
n.4132A>T
n.4118A>T
 gnomAD v4
15g.48756081T>CCA269537648CEP152c.3167A>G (p.Asp1056Gly)
c.2888A>G (p.Asp963Gly)
c.1208A>G (p.Asp403Gly)
c.1202A>G (p.Asp401Gly)
n.4132A>G
n.4118A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48756081T>GCA392342117CEP152c.3167A>C (p.Asp1056Ala)
c.2888A>C (p.Asp963Ala)
c.1208A>C (p.Asp403Ala)
c.1202A>C (p.Asp401Ala)
n.4132A>C
n.4118A>C
15g.48756081T=CA2175628520CEP152c.3167A= (p.Asp1056=)
c.2888A= (p.Asp963=)
c.1208A= (p.Asp403=)
c.1202A= (p.Asp401=)
n.4132A=
n.4118A=
15g.48756082C>ACA392342126CEP152c.3166G>T (p.Asp1056Tyr)
c.2887G>T (p.Asp963Tyr)
c.1207G>T (p.Asp403Tyr)
c.1201G>T (p.Asp401Tyr)
n.4131G>T
n.4117G>T
15g.48756082C>GCA392342124CEP152c.3166G>C (p.Asp1056His)
c.2887G>C (p.Asp963His)
c.1207G>C (p.Asp403His)
c.1201G>C (p.Asp401His)
n.4131G>C
n.4117G>C
15g.48756082C>TCA392342130CEP152c.3166G>A (p.Asp1056Asn)
c.2887G>A (p.Asp963Asn)
c.1207G>A (p.Asp403Asn)
c.1201G>A (p.Asp401Asn)
n.4131G>A
n.4117G>A
 COSMIC
15g.48756083A>CCA392342134CEP152c.3165T>G (p.Ser1055Arg)
c.2886T>G (p.Ser962Arg)
c.1206T>G (p.Ser402Arg)
c.1200T>G (p.Ser400Arg)
n.4130T>G
n.4116T>G
15g.48756083A>GCA490311179CEP152c.3165T>C (p.Ser1055=)
c.2886T>C (p.Ser962=)
c.1206T>C (p.Ser402=)
c.1200T>C (p.Ser400=)
n.4130T>C
n.4116T>C
15g.48756083A>TCA392342136CEP152c.3165T>A (p.Ser1055Arg)
c.2886T>A (p.Ser962Arg)
c.1206T>A (p.Ser402Arg)
c.1200T>A (p.Ser400Arg)
n.4130T>A
n.4116T>A
15g.48756084C>ACA392342141CEP152c.3164G>T (p.Ser1055Ile)
c.2885G>T (p.Ser962Ile)
c.1205G>T (p.Ser402Ile)
c.1199G>T (p.Ser400Ile)
n.4129G>T
n.4115G>T
15g.48756084C>GCA392342144CEP152c.3164G>C (p.Ser1055Thr)
c.2885G>C (p.Ser962Thr)
c.1205G>C (p.Ser402Thr)
c.1199G>C (p.Ser400Thr)
n.4129G>C
n.4115G>C
 gnomAD v4
15g.48756084C>TCA392342146CEP152c.3164G>A (p.Ser1055Asn)
c.2885G>A (p.Ser962Asn)
c.1205G>A (p.Ser402Asn)
c.1199G>A (p.Ser400Asn)
n.4129G>A
n.4115G>A
15g.48756085T>ACA392342149CEP152c.3163A>T (p.Ser1055Cys)
c.2884A>T (p.Ser962Cys)
c.1204A>T (p.Ser402Cys)
c.1198A>T (p.Ser400Cys)
n.4128A>T
n.4114A>T
15g.48756085T>CCA392342157CEP152c.3163A>G (p.Ser1055Gly)
c.2884A>G (p.Ser962Gly)
c.1204A>G (p.Ser402Gly)
c.1198A>G (p.Ser400Gly)
n.4128A>G
n.4114A>G
15g.48756085T>GCA392342159CEP152c.3163A>C (p.Ser1055Arg)
c.2884A>C (p.Ser962Arg)
c.1204A>C (p.Ser402Arg)
c.1198A>C (p.Ser400Arg)
n.4128A>C
n.4114A>C
15g.48756086T>ACA392342161CEP152c.3162A>T (p.Leu1054Phe)
c.2883A>T (p.Leu961Phe)
c.1203A>T (p.Leu401Phe)
c.1197A>T (p.Leu399Phe)
n.4127A>T
n.4113A>T
15g.48756086T>CCA490311180CEP152c.3162A>G (p.Leu1054=)
c.2883A>G (p.Leu961=)
c.1203A>G (p.Leu401=)
c.1197A>G (p.Leu399=)
n.4127A>G
n.4113A>G
 gnomAD v4
15g.48756086T>GCA392342162CEP152c.3162A>C (p.Leu1054Phe)
c.2883A>C (p.Leu961Phe)
c.1203A>C (p.Leu401Phe)
c.1197A>C (p.Leu399Phe)
n.4127A>C
n.4113A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48756086T=CA2175628523CEP152c.3162A= (p.Leu1054=)
c.2883A= (p.Leu961=)
c.1203A= (p.Leu401=)
c.1197A= (p.Leu399=)
n.4127A=
n.4113A=
15g.48756087A>CCA392342166CEP152c.3161T>G (p.Leu1054Ter)
c.2882T>G (p.Leu961Ter)
c.1202T>G (p.Leu401Ter)
c.1196T>G (p.Leu399Ter)
n.4126T>G
n.4112T>G
15g.48756087A>GCA392342169CEP152c.3161T>C (p.Leu1054Ser)
c.2882T>C (p.Leu961Ser)
c.1202T>C (p.Leu401Ser)
c.1196T>C (p.Leu399Ser)
n.4126T>C
n.4112T>C
15g.48756087A>TCA392342171CEP152c.3161T>A (p.Leu1054Ter)
c.2882T>A (p.Leu961Ter)
c.1202T>A (p.Leu401Ter)
c.1196T>A (p.Leu399Ter)
n.4126T>A
n.4112T>A
15g.48756088A>CCA392342173CEP152c.3160T>G (p.Leu1054Val)
c.2881T>G (p.Leu961Val)
c.1201T>G (p.Leu401Val)
c.1195T>G (p.Leu399Val)
n.4125T>G
n.4111T>G
15g.48756088A>GCA490311181CEP152c.3160T>C (p.Leu1054=)
c.2881T>C (p.Leu961=)
c.1201T>C (p.Leu401=)
c.1195T>C (p.Leu399=)
n.4125T>C
n.4111T>C
15g.48756088A>TCA392342174CEP152c.3160T>A (p.Leu1054Ile)
c.2881T>A (p.Leu961Ile)
c.1201T>A (p.Leu401Ile)
c.1195T>A (p.Leu399Ile)
n.4125T>A
n.4111T>A
15g.48756089A>CCA490311183CEP152c.3159T>G (p.Leu1053=)
c.2880T>G (p.Leu960=)
c.1200T>G (p.Leu400=)
c.1194T>G (p.Leu398=)
n.4124T>G
n.4110T>G
15g.48756089A>GCA490311184CEP152c.3159T>C (p.Leu1053=)
c.2880T>C (p.Leu960=)
c.1200T>C (p.Leu400=)
c.1194T>C (p.Leu398=)
n.4124T>C
n.4110T>C
15g.48756089A>TCA490311182CEP152c.3159T>A (p.Leu1053=)
c.2880T>A (p.Leu960=)
c.1200T>A (p.Leu400=)
c.1194T>A (p.Leu398=)
n.4124T>A
n.4110T>A
15g.48756090A>CCA392342177CEP152c.3158T>G (p.Leu1053Arg)
c.2879T>G (p.Leu960Arg)
c.1199T>G (p.Leu400Arg)
c.1193T>G (p.Leu398Arg)
n.4123T>G
n.4109T>G
15g.48756090A>GCA392342179CEP152c.3158T>C (p.Leu1053Pro)
c.2879T>C (p.Leu960Pro)
c.1199T>C (p.Leu400Pro)
c.1193T>C (p.Leu398Pro)
n.4123T>C
n.4109T>C
15g.48756090A>TCA392342183CEP152c.3158T>A (p.Leu1053His)
c.2879T>A (p.Leu960His)
c.1199T>A (p.Leu400His)
c.1193T>A (p.Leu398His)
n.4123T>A
n.4109T>A
15g.48756091G>ACA392342188CEP152c.3157C>T (p.Leu1053Phe)
c.2878C>T (p.Leu960Phe)
c.1198C>T (p.Leu400Phe)
c.1192C>T (p.Leu398Phe)
n.4122C>T
n.4108C>T
15g.48756091G>CCA392342190CEP152c.3157C>G (p.Leu1053Val)
c.2878C>G (p.Leu960Val)
c.1198C>G (p.Leu400Val)
c.1192C>G (p.Leu398Val)
n.4122C>G
n.4108C>G
15g.48756091G>TCA392342193CEP152c.3157C>A (p.Leu1053Ile)
c.2878C>A (p.Leu960Ile)
c.1198C>A (p.Leu400Ile)
c.1192C>A (p.Leu398Ile)
n.4122C>A
n.4108C>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
15g.48756092A>CCA490311185CEP152c.3156T>G (p.Val1052=)
c.2877T>G (p.Val959=)
c.1197T>G (p.Val399=)
c.1191T>G (p.Val397=)
n.4121T>G
n.4107T>G
15g.48756092A>GCA490311186CEP152c.3156T>C (p.Val1052=)
c.2877T>C (p.Val959=)
c.1197T>C (p.Val399=)
c.1191T>C (p.Val397=)
n.4121T>C
n.4107T>C
15g.48756092A>TCA490311187CEP152c.3156T>A (p.Val1052=)
c.2877T>A (p.Val959=)
c.1197T>A (p.Val399=)
c.1191T>A (p.Val397=)
n.4121T>A
n.4107T>A
15g.48756093A=CA2175628526CEP152c.3155T= (p.Val1052=)
c.2876T= (p.Val959=)
c.1196T= (p.Val399=)
c.1190T= (p.Val397=)
n.4120T=
n.4106T=
15g.48756093A>CCA392342196CEP152c.3155T>G (p.Val1052Gly)
c.2876T>G (p.Val959Gly)
c.1196T>G (p.Val399Gly)
c.1190T>G (p.Val397Gly)
n.4120T>G
n.4106T>G
15g.48756093A>GCA7548412CEP152c.3155T>C (p.Val1052Ala)
c.2876T>C (p.Val959Ala)
c.1196T>C (p.Val399Ala)
c.1190T>C (p.Val397Ala)
n.4120T>C
n.4106T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756093A>TCA392342201CEP152c.3155T>A (p.Val1052Asp)
c.2876T>A (p.Val959Asp)
c.1196T>A (p.Val399Asp)
c.1190T>A (p.Val397Asp)
n.4120T>A
n.4106T>A
15g.48756094C>ACA392342204CEP152c.3154G>T (p.Val1052Phe)
c.2875G>T (p.Val959Phe)
c.1195G>T (p.Val399Phe)
c.1189G>T (p.Val397Phe)
n.4119G>T
n.4105G>T
15g.48756094C=CA2175628528CEP152c.3154G= (p.Val1052=)
c.2875G= (p.Val959=)
c.1195G= (p.Val399=)
c.1189G= (p.Val397=)
n.4119G=
n.4105G=
15g.48756094C>GCA392342216CEP152c.3154G>C (p.Val1052Leu)
c.2875G>C (p.Val959Leu)
c.1195G>C (p.Val399Leu)
c.1189G>C (p.Val397Leu)
n.4119G>C
n.4105G>C
15g.48756094C>TCA392342218CEP152c.3154G>A (p.Val1052Ile)
c.2875G>A (p.Val959Ile)
c.1195G>A (p.Val399Ile)
c.1189G>A (p.Val397Ile)
n.4119G>A
n.4105G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.48756095C>ACA490311190CEP152c.3153G>T (p.Gly1051=)
c.2874G>T (p.Gly958=)
c.1194G>T (p.Gly398=)
c.1188G>T (p.Gly396=)
n.4118G>T
n.4104G>T
 ClinVar
15g.48756095C>GCA490311189CEP152c.3153G>C (p.Gly1051=)
c.2874G>C (p.Gly958=)
c.1194G>C (p.Gly398=)
c.1188G>C (p.Gly396=)
n.4118G>C
n.4104G>C
15g.48756095C>TCA490311188CEP152c.3153G>A (p.Gly1051=)
c.2874G>A (p.Gly958=)
c.1194G>A (p.Gly398=)
c.1188G>A (p.Gly396=)
n.4118G>A
n.4104G>A
 gnomAD v4
15g.48756096C>ACA392342222CEP152c.3152G>T (p.Gly1051Val)
c.2873G>T (p.Gly958Val)
c.1193G>T (p.Gly398Val)
c.1187G>T (p.Gly396Val)
n.4117G>T
n.4103G>T
15g.48756096C>GCA392342227CEP152c.3152G>C (p.Gly1051Ala)
c.2873G>C (p.Gly958Ala)
c.1193G>C (p.Gly398Ala)
c.1187G>C (p.Gly396Ala)
n.4117G>C
n.4103G>C
15g.48756096C>TCA392342226CEP152c.3152G>A (p.Gly1051Glu)
c.2873G>A (p.Gly958Glu)
c.1193G>A (p.Gly398Glu)
c.1187G>A (p.Gly396Glu)
n.4117G>A
n.4103G>A
15g.48756097C>ACA392342230CEP152c.3151G>T (p.Gly1051Trp)
c.2872G>T (p.Gly958Trp)
c.1192G>T (p.Gly398Trp)
c.1186G>T (p.Gly396Trp)
n.4116G>T
n.4102G>T
15g.48756097C>GCA392342234CEP152c.3151G>C (p.Gly1051Arg)
c.2872G>C (p.Gly958Arg)
c.1192G>C (p.Gly398Arg)
c.1186G>C (p.Gly396Arg)
n.4116G>C
n.4102G>C
15g.48756097C>TCA392342240CEP152c.3151G>A (p.Gly1051Arg)
c.2872G>A (p.Gly958Arg)
c.1192G>A (p.Gly398Arg)
c.1186G>A (p.Gly396Arg)
n.4116G>A
n.4102G>A
15g.48756098A>CCA490311191CEP152c.3150T>G (p.Leu1050=)
c.2871T>G (p.Leu957=)
c.1191T>G (p.Leu397=)
c.1185T>G (p.Leu395=)
n.4115T>G
n.4101T>G
15g.48756098A>GCA490311192CEP152c.3150T>C (p.Leu1050=)
c.2871T>C (p.Leu957=)
c.1191T>C (p.Leu397=)
c.1185T>C (p.Leu395=)
n.4115T>C
n.4101T>C
15g.48756098A>TCA490311193CEP152c.3150T>A (p.Leu1050=)
c.2871T>A (p.Leu957=)
c.1191T>A (p.Leu397=)
c.1185T>A (p.Leu395=)
n.4115T>A
n.4101T>A
15g.48756099A=CA2175628533CEP152c.3149T= (p.Leu1050=)
c.2870T= (p.Leu957=)
c.1190T= (p.Leu397=)
c.1184T= (p.Leu395=)
n.4114T=
n.4100T=
15g.48756099A>CCA392342242CEP152c.3149T>G (p.Leu1050Arg)
c.2870T>G (p.Leu957Arg)
c.1190T>G (p.Leu397Arg)
c.1184T>G (p.Leu395Arg)
n.4114T>G
n.4100T>G
15g.48756099A>GCA210980CEP152c.3149T>C (p.Leu1050Pro)
c.2870T>C (p.Leu957Pro)
c.1190T>C (p.Leu397Pro)
c.1184T>C (p.Leu395Pro)
n.4114T>C
n.4100T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756099A>TCA392342247CEP152c.3149T>A (p.Leu1050His)
c.2870T>A (p.Leu957His)
c.1190T>A (p.Leu397His)
c.1184T>A (p.Leu395His)
n.4114T>A
n.4100T>A
15g.48756100G>ACA392342251CEP152c.3148C>T (p.Leu1050Phe)
c.2869C>T (p.Leu957Phe)
c.1189C>T (p.Leu397Phe)
c.1183C>T (p.Leu395Phe)
n.4113C>T
n.4099C>T
15g.48756100G>CCA392342258CEP152c.3148C>G (p.Leu1050Val)
c.2869C>G (p.Leu957Val)
c.1189C>G (p.Leu397Val)
c.1183C>G (p.Leu395Val)
n.4113C>G
n.4099C>G
15g.48756100G=CA2175628539CEP152c.3148C= (p.Leu1050=)
c.2869C= (p.Leu957=)
c.1189C= (p.Leu397=)
c.1183C= (p.Leu395=)
n.4113C=
n.4099C=
15g.48756100G>TCA7548413CEP152c.3148C>A (p.Leu1050Ile)
c.2869C>A (p.Leu957Ile)
c.1189C>A (p.Leu397Ile)
c.1183C>A (p.Leu395Ile)
n.4113C>A
n.4099C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756101T>ACA490311194CEP152c.3147A>T (p.Val1049=)
c.2868A>T (p.Val956=)
c.1188A>T (p.Val396=)
c.1182A>T (p.Val394=)
n.4112A>T
n.4098A>T
15g.48756101T>CCA490311195CEP152c.3147A>G (p.Val1049=)
c.2868A>G (p.Val956=)
c.1188A>G (p.Val396=)
c.1182A>G (p.Val394=)
n.4112A>G
n.4098A>G
15g.48756101T>GCA490311196CEP152c.3147A>C (p.Val1049=)
c.2868A>C (p.Val956=)
c.1188A>C (p.Val396=)
c.1182A>C (p.Val394=)
n.4112A>C
n.4098A>C
15g.48756101dupCA2804077934CEP152c.3147dup (p.Leu1050ThrfsTer7)
c.2868dup (p.Leu957ThrfsTer7)
c.1188dup (p.Leu397ThrfsTer7)
c.1182dup (p.Leu395ThrfsTer7)
n.4112dup
n.4098dup
15g.48756102A>CCA392342262CEP152c.3146T>G (p.Val1049Gly)
c.2867T>G (p.Val956Gly)
c.1187T>G (p.Val396Gly)
c.1181T>G (p.Val394Gly)
n.4111T>G
n.4097T>G
15g.48756102A>GCA392342263CEP152c.3146T>C (p.Val1049Ala)
c.2867T>C (p.Val956Ala)
c.1187T>C (p.Val396Ala)
c.1181T>C (p.Val394Ala)
n.4111T>C
n.4097T>C
15g.48756102A>TCA392342264CEP152c.3146T>A (p.Val1049Glu)
c.2867T>A (p.Val956Glu)
c.1187T>A (p.Val396Glu)
c.1181T>A (p.Val394Glu)
n.4111T>A
n.4097T>A
15g.48756103C>ACA392342273CEP152c.3145G>T (p.Val1049Leu)
c.2866G>T (p.Val956Leu)
c.1186G>T (p.Val396Leu)
c.1180G>T (p.Val394Leu)
n.4110G>T
n.4096G>T
15g.48756103C>GCA392342268CEP152c.3145G>C (p.Val1049Leu)
c.2866G>C (p.Val956Leu)
c.1186G>C (p.Val396Leu)
c.1180G>C (p.Val394Leu)
n.4110G>C
n.4096G>C
15g.48756103C>TCA392342270CEP152c.3145G>A (p.Val1049Ile)
c.2866G>A (p.Val956Ile)
c.1186G>A (p.Val396Ile)
c.1180G>A (p.Val394Ile)
n.4110G>A
n.4096G>A
15g.48756104A>CCA490311197CEP152c.3144T>G (p.Thr1048=)
c.2865T>G (p.Thr955=)
c.1185T>G (p.Thr395=)
c.1179T>G (p.Thr393=)
n.4109T>G
n.4095T>G
15g.48756104A>GCA490311198CEP152c.3144T>C (p.Thr1048=)
c.2865T>C (p.Thr955=)
c.1185T>C (p.Thr395=)
c.1179T>C (p.Thr393=)
n.4109T>C
n.4095T>C
15g.48756104A>TCA490311199CEP152c.3144T>A (p.Thr1048=)
c.2865T>A (p.Thr955=)
c.1185T>A (p.Thr395=)
c.1179T>A (p.Thr393=)
n.4109T>A
n.4095T>A
15g.48756105G>ACA392342278CEP152c.3143C>T (p.Thr1048Ile)
c.2864C>T (p.Thr955Ile)
c.1184C>T (p.Thr395Ile)
c.1178C>T (p.Thr393Ile)
n.4108C>T
n.4094C>T
 gnomAD v4
15g.48756105G>CCA392342280CEP152c.3143C>G (p.Thr1048Ser)
c.2864C>G (p.Thr955Ser)
c.1184C>G (p.Thr395Ser)
c.1178C>G (p.Thr393Ser)
n.4108C>G
n.4094C>G
15g.48756105G>TCA392342283CEP152c.3143C>A (p.Thr1048Asn)
c.2864C>A (p.Thr955Asn)
c.1184C>A (p.Thr395Asn)
c.1178C>A (p.Thr393Asn)
n.4108C>A
n.4094C>A
15g.48756106T>ACA392342287CEP152c.3142A>T (p.Thr1048Ser)
c.2863A>T (p.Thr955Ser)
c.1183A>T (p.Thr395Ser)
c.1177A>T (p.Thr393Ser)
n.4107A>T
n.4093A>T
15g.48756106T>CCA392342290CEP152c.3142A>G (p.Thr1048Ala)
c.2863A>G (p.Thr955Ala)
c.1183A>G (p.Thr395Ala)
c.1177A>G (p.Thr393Ala)
n.4107A>G
n.4093A>G
15g.48756106T>GCA392342300CEP152c.3142A>C (p.Thr1048Pro)
c.2863A>C (p.Thr955Pro)
c.1183A>C (p.Thr395Pro)
c.1177A>C (p.Thr393Pro)
n.4107A>C
n.4093A>C
15g.48756107C>ACA490311200CEP152c.3141G>T (p.Leu1047=)
c.2862G>T (p.Leu954=)
c.1182G>T (p.Leu394=)
c.1176G>T (p.Leu392=)
n.4106G>T
n.4092G>T
15g.48756107C>GCA490311201CEP152c.3141G>C (p.Leu1047=)
c.2862G>C (p.Leu954=)
c.1182G>C (p.Leu394=)
c.1176G>C (p.Leu392=)
n.4106G>C
n.4092G>C
 ClinVar gnomAD v4
15g.48756107C>TCA490311202CEP152c.3141G>A (p.Leu1047=)
c.2862G>A (p.Leu954=)
c.1182G>A (p.Leu394=)
c.1176G>A (p.Leu392=)
n.4106G>A
n.4092G>A
15g.48756108A>CCA392342308CEP152c.3140T>G (p.Leu1047Arg)
c.2861T>G (p.Leu954Arg)
c.1181T>G (p.Leu394Arg)
c.1175T>G (p.Leu392Arg)
n.4105T>G
n.4091T>G
15g.48756108A>GCA392342311CEP152c.3140T>C (p.Leu1047Pro)
c.2861T>C (p.Leu954Pro)
c.1181T>C (p.Leu394Pro)
c.1175T>C (p.Leu392Pro)
n.4105T>C
n.4091T>C
15g.48756108A>TCA392342313CEP152c.3140T>A (p.Leu1047Gln)
c.2861T>A (p.Leu954Gln)
c.1181T>A (p.Leu394Gln)
c.1175T>A (p.Leu392Gln)
n.4105T>A
n.4091T>A
15g.48756109G>ACA490311203CEP152c.3139C>T (p.Leu1047=)
c.2860C>T (p.Leu954=)
c.1180C>T (p.Leu394=)
c.1174C>T (p.Leu392=)
n.4104C>T
n.4090C>T
 dbSNP gnomAD v4
15g.48756109G>CCA392342325CEP152c.3139C>G (p.Leu1047Val)
c.2860C>G (p.Leu954Val)
c.1180C>G (p.Leu394Val)
c.1174C>G (p.Leu392Val)
n.4104C>G
n.4090C>G
15g.48756109G>TCA392342327CEP152c.3139C>A (p.Leu1047Met)
c.2860C>A (p.Leu954Met)
c.1180C>A (p.Leu394Met)
c.1174C>A (p.Leu392Met)
n.4104C>A
n.4090C>A
15g.48756113_48756145delCA2628343373CEP152c.3107_3139del (p.Gln1036_Ile1046del)
c.2828_2860del (p.Gln943_Ile953del)
c.1148_1180del (p.Gln383_Ile393del)
c.1142_1174del (p.Gln381_Ile391del)
n.4072_4104del
n.4058_4090del
 gnomAD v4
15g.48756110G>ACA490311205CEP152c.3138C>T (p.Ile1046=)
c.2859C>T (p.Ile953=)
c.1179C>T (p.Ile393=)
c.1173C>T (p.Ile391=)
n.4103C>T
n.4089C>T
15g.48756110G>CCA392342329CEP152c.3138C>G (p.Ile1046Met)
c.2859C>G (p.Ile953Met)
c.1179C>G (p.Ile393Met)
c.1173C>G (p.Ile391Met)
n.4103C>G
n.4089C>G
15g.48756110G>TCA490311204CEP152c.3138C>A (p.Ile1046=)
c.2859C>A (p.Ile953=)
c.1179C>A (p.Ile393=)
c.1173C>A (p.Ile391=)
n.4103C>A
n.4089C>A
15g.48756111A>CCA392342340CEP152c.3137T>G (p.Ile1046Ser)
c.2858T>G (p.Ile953Ser)
c.1178T>G (p.Ile393Ser)
c.1172T>G (p.Ile391Ser)
n.4102T>G
n.4088T>G
15g.48756111A>GCA392342343CEP152c.3137T>C (p.Ile1046Thr)
c.2858T>C (p.Ile953Thr)
c.1178T>C (p.Ile393Thr)
c.1172T>C (p.Ile391Thr)
n.4102T>C
n.4088T>C
15g.48756111A>TCA392342334CEP152c.3137T>A (p.Ile1046Asn)
c.2858T>A (p.Ile953Asn)
c.1178T>A (p.Ile393Asn)
c.1172T>A (p.Ile391Asn)
n.4102T>A
n.4088T>A
15g.48756112T>ACA392342352CEP152c.3136A>T (p.Ile1046Phe)
c.2857A>T (p.Ile953Phe)
c.1177A>T (p.Ile393Phe)
c.1171A>T (p.Ile391Phe)
n.4101A>T
n.4087A>T
15g.48756112T>CCA392342345CEP152c.3136A>G (p.Ile1046Val)
c.2857A>G (p.Ile953Val)
c.1177A>G (p.Ile393Val)
c.1171A>G (p.Ile391Val)
n.4101A>G
n.4087A>G
15g.48756112T>GCA392342347CEP152c.3136A>C (p.Ile1046Leu)
c.2857A>C (p.Ile953Leu)
c.1177A>C (p.Ile393Leu)
c.1171A>C (p.Ile391Leu)
n.4101A>C
n.4087A>C
15g.48756113G>ACA490311206CEP152c.3135C>T (p.Asp1045=)
c.2856C>T (p.Asp952=)
c.1176C>T (p.Asp392=)
c.1170C>T (p.Asp390=)
n.4100C>T
n.4086C>T
15g.48756113G>CCA392342355CEP152c.3135C>G (p.Asp1045Glu)
c.2856C>G (p.Asp952Glu)
c.1176C>G (p.Asp392Glu)
c.1170C>G (p.Asp390Glu)
n.4100C>G
n.4086C>G
15g.48756113G>TCA392342358CEP152c.3135C>A (p.Asp1045Glu)
c.2856C>A (p.Asp952Glu)
c.1176C>A (p.Asp392Glu)
c.1170C>A (p.Asp390Glu)
n.4100C>A
n.4086C>A
15g.48756114T>ACA392342360CEP152c.3134A>T (p.Asp1045Val)
c.2855A>T (p.Asp952Val)
c.1175A>T (p.Asp392Val)
c.1169A>T (p.Asp390Val)
n.4099A>T
n.4085A>T
15g.48756114T>CCA7548414CEP152c.3134A>G (p.Asp1045Gly)
c.2855A>G (p.Asp952Gly)
c.1175A>G (p.Asp392Gly)
c.1169A>G (p.Asp390Gly)
n.4099A>G
n.4085A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756114T>GCA392342367CEP152c.3134A>C (p.Asp1045Ala)
c.2855A>C (p.Asp952Ala)
c.1175A>C (p.Asp392Ala)
c.1169A>C (p.Asp390Ala)
n.4099A>C
n.4085A>C
15g.48756114T=CA2175628544CEP152c.3134A= (p.Asp1045=)
c.2855A= (p.Asp952=)
c.1175A= (p.Asp392=)
c.1169A= (p.Asp390=)
n.4099A=
n.4085A=
15g.48756115C>ACA392342369CEP152c.3133G>T (p.Asp1045Tyr)
c.2854G>T (p.Asp952Tyr)
c.1174G>T (p.Asp392Tyr)
c.1168G>T (p.Asp390Tyr)
n.4098G>T
n.4084G>T
15g.48756115C>GCA392342370CEP152c.3133G>C (p.Asp1045His)
c.2854G>C (p.Asp952His)
c.1174G>C (p.Asp392His)
c.1168G>C (p.Asp390His)
n.4098G>C
n.4084G>C
15g.48756115C>TCA392342371CEP152c.3133G>A (p.Asp1045Asn)
c.2854G>A (p.Asp952Asn)
c.1174G>A (p.Asp392Asn)
c.1168G>A (p.Asp390Asn)
n.4098G>A
n.4084G>A
15g.48756116T>ACA392342373CEP152c.3132A>T (p.Glu1044Asp)
c.2853A>T (p.Glu951Asp)
c.1173A>T (p.Glu391Asp)
c.1167A>T (p.Glu389Asp)
n.4097A>T
n.4083A>T
15g.48756116T>CCA490311207CEP152c.3132A>G (p.Glu1044=)
c.2853A>G (p.Glu951=)
c.1173A>G (p.Glu391=)
c.1167A>G (p.Glu389=)
n.4097A>G
n.4083A>G
15g.48756116T>GCA392342374CEP152c.3132A>C (p.Glu1044Asp)
c.2853A>C (p.Glu951Asp)
c.1173A>C (p.Glu391Asp)
c.1167A>C (p.Glu389Asp)
n.4097A>C
n.4083A>C
15g.48756117delCA2575718054CEP152c.3132del (p.Asp1045ThrfsTer3)
c.2853del (p.Asp952ThrfsTer3)
c.1173del (p.Asp392ThrfsTer3)
c.1167del (p.Asp390ThrfsTer3)
n.4097del
n.4083del
15g.48756117T>ACA392342399CEP152c.3131A>T (p.Glu1044Val)
c.2852A>T (p.Glu951Val)
c.1172A>T (p.Glu391Val)
c.1166A>T (p.Glu389Val)
n.4096A>T
n.4082A>T
15g.48756117T>CCA392342402CEP152c.3131A>G (p.Glu1044Gly)
c.2852A>G (p.Glu951Gly)
c.1172A>G (p.Glu391Gly)
c.1166A>G (p.Glu389Gly)
n.4096A>G
n.4082A>G
 gnomAD v4
15g.48756117T>GCA392342397CEP152c.3131A>C (p.Glu1044Ala)
c.2852A>C (p.Glu951Ala)
c.1172A>C (p.Glu391Ala)
c.1166A>C (p.Glu389Ala)
n.4096A>C
n.4082A>C
 dbSNP gnomAD v2 gnomAD v4
15g.48756117T=CA2175628547CEP152c.3131A= (p.Glu1044=)
c.2852A= (p.Glu951=)
c.1172A= (p.Glu391=)
c.1166A= (p.Glu389=)
n.4096A=
n.4082A=
15g.48756118C>ACA392342409CEP152c.3130G>T (p.Glu1044Ter)
c.2851G>T (p.Glu951Ter)
c.1171G>T (p.Glu391Ter)
c.1165G>T (p.Glu389Ter)
n.4095G>T
n.4081G>T
15g.48756118C>GCA392342415CEP152c.3130G>C (p.Glu1044Gln)
c.2851G>C (p.Glu951Gln)
c.1171G>C (p.Glu391Gln)
c.1165G>C (p.Glu389Gln)
n.4095G>C
n.4081G>C
15g.48756118C>TCA392342418CEP152c.3130G>A (p.Glu1044Lys)
c.2851G>A (p.Glu951Lys)
c.1171G>A (p.Glu391Lys)
c.1165G>A (p.Glu389Lys)
n.4095G>A
n.4081G>A
 gnomAD v4
15g.48756119C>ACA392342422CEP152c.3129G>T (p.Glu1043Asp)
c.2850G>T (p.Glu950Asp)
c.1170G>T (p.Glu390Asp)
c.1164G>T (p.Glu388Asp)
n.4094G>T
n.4080G>T
15g.48756119C=CA2175628551CEP152c.3129G= (p.Glu1043=)
c.2850G= (p.Glu950=)
c.1170G= (p.Glu390=)
c.1164G= (p.Glu388=)
n.4094G=
n.4080G=
15g.48756119C>GCA392342439CEP152c.3129G>C (p.Glu1043Asp)
c.2850G>C (p.Glu950Asp)
c.1170G>C (p.Glu390Asp)
c.1164G>C (p.Glu388Asp)
n.4094G>C
n.4080G>C
15g.48756119C>TCA490311208CEP152c.3129G>A (p.Glu1043=)
c.2850G>A (p.Glu950=)
c.1170G>A (p.Glu390=)
c.1164G>A (p.Glu388=)
n.4094G>A
n.4080G>A
 ClinVar dbSNP gnomAD v4
15g.48756120T>ACA392342446CEP152c.3128A>T (p.Glu1043Val)
c.2849A>T (p.Glu950Val)
c.1169A>T (p.Glu390Val)
c.1163A>T (p.Glu388Val)
n.4093A>T
n.4079A>T
15g.48756120T>CCA392342443CEP152c.3128A>G (p.Glu1043Gly)
c.2849A>G (p.Glu950Gly)
c.1169A>G (p.Glu390Gly)
c.1163A>G (p.Glu388Gly)
n.4093A>G
n.4079A>G
15g.48756120T>GCA392342445CEP152c.3128A>C (p.Glu1043Ala)
c.2849A>C (p.Glu950Ala)
c.1169A>C (p.Glu390Ala)
c.1163A>C (p.Glu388Ala)
n.4093A>C
n.4079A>C
15g.48756121C>ACA392342447CEP152c.3127G>T (p.Glu1043Ter)
c.2848G>T (p.Glu950Ter)
c.1168G>T (p.Glu390Ter)
c.1162G>T (p.Glu388Ter)
n.4092G>T
n.4078G>T
15g.48756121C>GCA392342448CEP152c.3127G>C (p.Glu1043Gln)
c.2848G>C (p.Glu950Gln)
c.1168G>C (p.Glu390Gln)
c.1162G>C (p.Glu388Gln)
n.4092G>C
n.4078G>C
15g.48756121C>TCA392342449CEP152c.3127G>A (p.Glu1043Lys)
c.2848G>A (p.Glu950Lys)
c.1168G>A (p.Glu390Lys)
c.1162G>A (p.Glu388Lys)
n.4092G>A
n.4078G>A
 gnomAD v4
15g.48756122A=CA2175628553CEP152c.3126T= (p.Tyr1042=)
c.2847T= (p.Tyr949=)
c.1167T= (p.Tyr389=)
c.1161T= (p.Tyr387=)
n.4091T=
n.4077T=
15g.48756122A>CCA392342452CEP152c.3126T>G (p.Tyr1042Ter)
c.2847T>G (p.Tyr949Ter)
c.1167T>G (p.Tyr389Ter)
c.1161T>G (p.Tyr387Ter)
n.4091T>G
n.4077T>G
15g.48756122A>GCA490311209CEP152c.3126T>C (p.Tyr1042=)
c.2847T>C (p.Tyr949=)
c.1167T>C (p.Tyr389=)
c.1161T>C (p.Tyr387=)
n.4091T>C
n.4077T>C
15g.48756122A>TCA392342454CEP152c.3126T>A (p.Tyr1042Ter)
c.2847T>A (p.Tyr949Ter)
c.1167T>A (p.Tyr389Ter)
c.1161T>A (p.Tyr387Ter)
n.4091T>A
n.4077T>A
 dbSNP gnomAD v2 gnomAD v4
15g.48756123T>ACA392342462CEP152c.3125A>T (p.Tyr1042Phe)
c.2846A>T (p.Tyr949Phe)
c.1166A>T (p.Tyr389Phe)
c.1160A>T (p.Tyr387Phe)
n.4090A>T
n.4076A>T
 dbSNP gnomAD v2 gnomAD v4
15g.48756123T>CCA269537671CEP152c.3125A>G (p.Tyr1042Cys)
c.2846A>G (p.Tyr949Cys)
c.1166A>G (p.Tyr389Cys)
c.1160A>G (p.Tyr387Cys)
n.4090A>G
n.4076A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48756123T>GCA392342457CEP152c.3125A>C (p.Tyr1042Ser)
c.2846A>C (p.Tyr949Ser)
c.1166A>C (p.Tyr389Ser)
c.1160A>C (p.Tyr387Ser)
n.4090A>C
n.4076A>C
15g.48756123T=CA2175628556CEP152c.3125A= (p.Tyr1042=)
c.2846A= (p.Tyr949=)
c.1166A= (p.Tyr389=)
c.1160A= (p.Tyr387=)
n.4090A=
n.4076A=
15g.48756124A>CCA392342466CEP152c.3124T>G (p.Tyr1042Asp)
c.2845T>G (p.Tyr949Asp)
c.1165T>G (p.Tyr389Asp)
c.1159T>G (p.Tyr387Asp)
n.4089T>G
n.4075T>G
15g.48756124A>GCA392342469CEP152c.3124T>C (p.Tyr1042His)
c.2845T>C (p.Tyr949His)
c.1165T>C (p.Tyr389His)
c.1159T>C (p.Tyr387His)
n.4089T>C
n.4075T>C
15g.48756124A>TCA392342474CEP152c.3124T>A (p.Tyr1042Asn)
c.2845T>A (p.Tyr949Asn)
c.1165T>A (p.Tyr389Asn)
c.1159T>A (p.Tyr387Asn)
n.4089T>A
n.4075T>A
15g.48756125C>ACA392342478CEP152c.3123G>T (p.Gln1041His)
c.2844G>T (p.Gln948His)
c.1164G>T (p.Gln388His)
c.1158G>T (p.Gln386His)
n.4088G>T
n.4074G>T
 gnomAD v4
15g.48756125C>GCA392342480CEP152c.3123G>C (p.Gln1041His)
c.2844G>C (p.Gln948His)
c.1164G>C (p.Gln388His)
c.1158G>C (p.Gln386His)
n.4088G>C
n.4074G>C
 gnomAD v4
15g.48756125C>TCA490311210CEP152c.3123G>A (p.Gln1041=)
c.2844G>A (p.Gln948=)
c.1164G>A (p.Gln388=)
c.1158G>A (p.Gln386=)
n.4088G>A
n.4074G>A
15g.48756126T>ACA392342482CEP152c.3122A>T (p.Gln1041Leu)
c.2843A>T (p.Gln948Leu)
c.1163A>T (p.Gln388Leu)
c.1157A>T (p.Gln386Leu)
n.4087A>T
n.4073A>T
15g.48756126T>CCA269537673CEP152c.3122A>G (p.Gln1041Arg)
c.2843A>G (p.Gln948Arg)
c.1163A>G (p.Gln388Arg)
c.1157A>G (p.Gln386Arg)
n.4087A>G
n.4073A>G
 dbSNP gnomAD v4
15g.48756126T>GCA392342487CEP152c.3122A>C (p.Gln1041Pro)
c.2843A>C (p.Gln948Pro)
c.1163A>C (p.Gln388Pro)
c.1157A>C (p.Gln386Pro)
n.4087A>C
n.4073A>C
 dbSNP gnomAD v2
15g.48756126T=CA2175628563CEP152c.3122A= (p.Gln1041=)
c.2843A= (p.Gln948=)
c.1163A= (p.Gln388=)
c.1157A= (p.Gln386=)
n.4087A=
n.4073A=
15g.48756127G>ACA392342489CEP152c.3121C>T (p.Gln1041Ter)
c.2842C>T (p.Gln948Ter)
c.1162C>T (p.Gln388Ter)
c.1156C>T (p.Gln386Ter)
n.4086C>T
n.4072C>T
 dbSNP gnomAD v2 gnomAD v4
15g.48756127G>CCA392342493CEP152c.3121C>G (p.Gln1041Glu)
c.2842C>G (p.Gln948Glu)
c.1162C>G (p.Gln388Glu)
c.1156C>G (p.Gln386Glu)
n.4086C>G
n.4072C>G
15g.48756127G=CA2175628569CEP152c.3121C= (p.Gln1041=)
c.2842C= (p.Gln948=)
c.1162C= (p.Gln388=)
c.1156C= (p.Gln386=)
n.4086C=
n.4072C=
15g.48756127G>TCA392342497CEP152c.3121C>A (p.Gln1041Lys)
c.2842C>A (p.Gln948Lys)
c.1162C>A (p.Gln388Lys)
c.1156C>A (p.Gln386Lys)
n.4086C>A
n.4072C>A
 gnomAD v4 COSMIC COSMIC
15g.48756128A>CCA392342499CEP152c.3120T>G (p.Tyr1040Ter)
c.2841T>G (p.Tyr947Ter)
c.1161T>G (p.Tyr387Ter)
c.1155T>G (p.Tyr385Ter)
n.4085T>G
n.4071T>G
15g.48756128A>GCA490311211CEP152c.3120T>C (p.Tyr1040=)
c.2841T>C (p.Tyr947=)
c.1161T>C (p.Tyr387=)
c.1155T>C (p.Tyr385=)
n.4085T>C
n.4071T>C
 gnomAD v4
15g.48756128A>TCA392342501CEP152c.3120T>A (p.Tyr1040Ter)
c.2841T>A (p.Tyr947Ter)
c.1161T>A (p.Tyr387Ter)
c.1155T>A (p.Tyr385Ter)
n.4085T>A
n.4071T>A
15g.48756129T>ACA392342509CEP152c.3119A>T (p.Tyr1040Phe)
c.2840A>T (p.Tyr947Phe)
c.1160A>T (p.Tyr387Phe)
c.1154A>T (p.Tyr385Phe)
n.4084A>T
n.4070A>T
15g.48756129T>CCA7548415CEP152c.3119A>G (p.Tyr1040Cys)
c.2840A>G (p.Tyr947Cys)
c.1160A>G (p.Tyr387Cys)
c.1154A>G (p.Tyr385Cys)
n.4084A>G
n.4070A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756129T>GCA392342505CEP152c.3119A>C (p.Tyr1040Ser)
c.2840A>C (p.Tyr947Ser)
c.1160A>C (p.Tyr387Ser)
c.1154A>C (p.Tyr385Ser)
n.4084A>C
n.4070A>C
15g.48756129T=CA2175628572CEP152c.3119A= (p.Tyr1040=)
c.2840A= (p.Tyr947=)
c.1160A= (p.Tyr387=)
c.1154A= (p.Tyr385=)
n.4084A=
n.4070A=
15g.48756130A>CCA392342512CEP152c.3118T>G (p.Tyr1040Asp)
c.2839T>G (p.Tyr947Asp)
c.1159T>G (p.Tyr387Asp)
c.1153T>G (p.Tyr385Asp)
n.4083T>G
n.4069T>G
15g.48756130A>GCA392342514CEP152c.3118T>C (p.Tyr1040His)
c.2839T>C (p.Tyr947His)
c.1159T>C (p.Tyr387His)
c.1153T>C (p.Tyr385His)
n.4083T>C
n.4069T>C
15g.48756130A>TCA392342516CEP152c.3118T>A (p.Tyr1040Asn)
c.2839T>A (p.Tyr947Asn)
c.1159T>A (p.Tyr387Asn)
c.1153T>A (p.Tyr385Asn)
n.4083T>A
n.4069T>A
15g.48756131G>ACA7548416CEP152c.3117C>T (p.Ile1039=)
c.2838C>T (p.Ile946=)
c.1158C>T (p.Ile386=)
c.1152C>T (p.Ile384=)
n.4082C>T
n.4068C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756131G>CCA392342518CEP152c.3117C>G (p.Ile1039Met)
c.2838C>G (p.Ile946Met)
c.1158C>G (p.Ile386Met)
c.1152C>G (p.Ile384Met)
n.4082C>G
n.4068C>G
 dbSNP gnomAD v4
15g.48756131G=CA2175628577CEP152c.3117C= (p.Ile1039=)
c.2838C= (p.Ile946=)
c.1158C= (p.Ile386=)
c.1152C= (p.Ile384=)
n.4082C=
n.4068C=
15g.48756131G>TCA490311212CEP152c.3117C>A (p.Ile1039=)
c.2838C>A (p.Ile946=)
c.1158C>A (p.Ile386=)
c.1152C>A (p.Ile384=)
n.4082C>A
n.4068C>A
15g.48756132A>CCA392342525CEP152c.3116T>G (p.Ile1039Ser)
c.2837T>G (p.Ile946Ser)
c.1157T>G (p.Ile386Ser)
c.1151T>G (p.Ile384Ser)
n.4081T>G
n.4067T>G
15g.48756132A>GCA392342521CEP152c.3116T>C (p.Ile1039Thr)
c.2837T>C (p.Ile946Thr)
c.1157T>C (p.Ile386Thr)
c.1151T>C (p.Ile384Thr)
n.4081T>C
n.4067T>C
15g.48756132A>TCA392342523CEP152c.3116T>A (p.Ile1039Asn)
c.2837T>A (p.Ile946Asn)
c.1157T>A (p.Ile386Asn)
c.1151T>A (p.Ile384Asn)
n.4081T>A
n.4067T>A
15g.48756133T>ACA392342529CEP152c.3115A>T (p.Ile1039Phe)
c.2836A>T (p.Ile946Phe)
c.1156A>T (p.Ile386Phe)
c.1150A>T (p.Ile384Phe)
n.4080A>T
n.4066A>T
15g.48756133T>CCA392342531CEP152c.3115A>G (p.Ile1039Val)
c.2836A>G (p.Ile946Val)
c.1156A>G (p.Ile386Val)
c.1150A>G (p.Ile384Val)
n.4080A>G
n.4066A>G
 dbSNP gnomAD v2 gnomAD v4
15g.48756133T>GCA392342533CEP152c.3115A>C (p.Ile1039Leu)
c.2836A>C (p.Ile946Leu)
c.1156A>C (p.Ile386Leu)
c.1150A>C (p.Ile384Leu)
n.4080A>C
n.4066A>C
15g.48756133T=CA2175628581CEP152c.3115A= (p.Ile1039=)
c.2836A= (p.Ile946=)
c.1156A= (p.Ile386=)
c.1150A= (p.Ile384=)
n.4080A=
n.4066A=
15g.48756134T>ACA392342535CEP152c.3114A>T (p.Glu1038Asp)
c.2835A>T (p.Glu945Asp)
c.1155A>T (p.Glu385Asp)
c.1149A>T (p.Glu383Asp)
n.4079A>T
n.4065A>T
15g.48756134T>CCA490311213CEP152c.3114A>G (p.Glu1038=)
c.2835A>G (p.Glu945=)
c.1155A>G (p.Glu385=)
c.1149A>G (p.Glu383=)
n.4079A>G
n.4065A>G
15g.48756134T>GCA392342538CEP152c.3114A>C (p.Glu1038Asp)
c.2835A>C (p.Glu945Asp)
c.1155A>C (p.Glu385Asp)
c.1149A>C (p.Glu383Asp)
n.4079A>C
n.4065A>C
15g.48756135T>ACA392342541CEP152c.3113A>T (p.Glu1038Val)
c.2834A>T (p.Glu945Val)
c.1154A>T (p.Glu385Val)
c.1148A>T (p.Glu383Val)
n.4078A>T
n.4064A>T
15g.48756135T>CCA392342546CEP152c.3113A>G (p.Glu1038Gly)
c.2834A>G (p.Glu945Gly)
c.1154A>G (p.Glu385Gly)
c.1148A>G (p.Glu383Gly)
n.4078A>G
n.4064A>G
15g.48756135T>GCA392342544CEP152c.3113A>C (p.Glu1038Ala)
c.2834A>C (p.Glu945Ala)
c.1154A>C (p.Glu385Ala)
c.1148A>C (p.Glu383Ala)
n.4078A>C
n.4064A>C
15g.48756136C>ACA392342548CEP152c.3112G>T (p.Glu1038Ter)
c.2833G>T (p.Glu945Ter)
c.1153G>T (p.Glu385Ter)
c.1147G>T (p.Glu383Ter)
n.4077G>T
n.4063G>T
15g.48756136C>GCA392342553CEP152c.3112G>C (p.Glu1038Gln)
c.2833G>C (p.Glu945Gln)
c.1153G>C (p.Glu385Gln)
c.1147G>C (p.Glu383Gln)
n.4077G>C
n.4063G>C
15g.48756136C>TCA392342550CEP152c.3112G>A (p.Glu1038Lys)
c.2833G>A (p.Glu945Lys)
c.1153G>A (p.Glu385Lys)
c.1147G>A (p.Glu383Lys)
n.4077G>A
n.4063G>A
15g.48756137C>ACA490311216CEP152c.3111G>T (p.Leu1037=)
c.2832G>T (p.Leu944=)
c.1152G>T (p.Leu384=)
c.1146G>T (p.Leu382=)
n.4076G>T
n.4062G>T
15g.48756137C=CA2175628584CEP152c.3111G= (p.Leu1037=)
c.2832G= (p.Leu944=)
c.1152G= (p.Leu384=)
c.1146G= (p.Leu382=)
n.4076G=
n.4062G=
15g.48756137C>GCA490311214CEP152c.3111G>C (p.Leu1037=)
c.2832G>C (p.Leu944=)
c.1152G>C (p.Leu384=)
c.1146G>C (p.Leu382=)
n.4076G>C
n.4062G>C
15g.48756137C>TCA490311215CEP152c.3111G>A (p.Leu1037=)
c.2832G>A (p.Leu944=)
c.1152G>A (p.Leu384=)
c.1146G>A (p.Leu382=)
n.4076G>A
n.4062G>A
 dbSNP gnomAD v2 gnomAD v4
15g.48756138A>CCA392342554CEP152c.3110T>G (p.Leu1037Arg)
c.2831T>G (p.Leu944Arg)
c.1151T>G (p.Leu384Arg)
c.1145T>G (p.Leu382Arg)
n.4075T>G
n.4061T>G
15g.48756138A>GCA392342559CEP152c.3110T>C (p.Leu1037Pro)
c.2831T>C (p.Leu944Pro)
c.1151T>C (p.Leu384Pro)
c.1145T>C (p.Leu382Pro)
n.4075T>C
n.4061T>C
15g.48756138A>TCA392342556CEP152c.3110T>A (p.Leu1037Gln)
c.2831T>A (p.Leu944Gln)
c.1151T>A (p.Leu384Gln)
c.1145T>A (p.Leu382Gln)
n.4075T>A
n.4061T>A
15g.48756139G>ACA7548417CEP152c.3109C>T (p.Leu1037=)
c.2830C>T (p.Leu944=)
c.1150C>T (p.Leu384=)
c.1144C>T (p.Leu382=)
n.4074C>T
n.4060C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756139G>CCA392342565CEP152c.3109C>G (p.Leu1037Val)
c.2830C>G (p.Leu944Val)
c.1150C>G (p.Leu384Val)
c.1144C>G (p.Leu382Val)
n.4074C>G
n.4060C>G
15g.48756139G=CA2175628586CEP152c.3109C= (p.Leu1037=)
c.2830C= (p.Leu944=)
c.1150C= (p.Leu384=)
c.1144C= (p.Leu382=)
n.4074C=
n.4060C=
15g.48756139G>TCA392342562CEP152c.3109C>A (p.Leu1037Met)
c.2830C>A (p.Leu944Met)
c.1150C>A (p.Leu384Met)
c.1144C>A (p.Leu382Met)
n.4074C>A
n.4060C>A
 dbSNP
15g.48756140T>ACA392342569CEP152c.3108A>T (p.Gln1036His)
c.2829A>T (p.Gln943His)
c.1149A>T (p.Gln383His)
c.1143A>T (p.Gln381His)
n.4073A>T
n.4059A>T
15g.48756140T>CCA490311217CEP152c.3108A>G (p.Gln1036=)
c.2829A>G (p.Gln943=)
c.1149A>G (p.Gln383=)
c.1143A>G (p.Gln381=)
n.4073A>G
n.4059A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.48756140T>GCA392342571CEP152c.3108A>C (p.Gln1036His)
c.2829A>C (p.Gln943His)
c.1149A>C (p.Gln383His)
c.1143A>C (p.Gln381His)
n.4073A>C
n.4059A>C
 gnomAD v4
15g.48756140T=CA2175628589CEP152c.3108A= (p.Gln1036=)
c.2829A= (p.Gln943=)
c.1149A= (p.Gln383=)
c.1143A= (p.Gln381=)
n.4073A=
n.4059A=
15g.48756141T>ACA392342574CEP152c.3107A>T (p.Gln1036Leu)
c.2828A>T (p.Gln943Leu)
c.1148A>T (p.Gln383Leu)
c.1142A>T (p.Gln381Leu)
n.4072A>T
n.4058A>T
15g.48756141T>CCA392342575CEP152c.3107A>G (p.Gln1036Arg)
c.2828A>G (p.Gln943Arg)
c.1148A>G (p.Gln383Arg)
c.1142A>G (p.Gln381Arg)
n.4072A>G
n.4058A>G
 gnomAD v4
15g.48756141T>GCA392342577CEP152c.3107A>C (p.Gln1036Pro)
c.2828A>C (p.Gln943Pro)
c.1148A>C (p.Gln383Pro)
c.1142A>C (p.Gln381Pro)
n.4072A>C
n.4058A>C
15g.48756142G>ACA392342580CEP152c.3106C>T (p.Gln1036Ter)
c.2827C>T (p.Gln943Ter)
c.1147C>T (p.Gln383Ter)
c.1141C>T (p.Gln381Ter)
n.4071C>T
n.4057C>T
15g.48756142G>CCA392342583CEP152c.3106C>G (p.Gln1036Glu)
c.2827C>G (p.Gln943Glu)
c.1147C>G (p.Gln383Glu)
c.1141C>G (p.Gln381Glu)
n.4071C>G
n.4057C>G
15g.48756142G>TCA392342584CEP152c.3106C>A (p.Gln1036Lys)
c.2827C>A (p.Gln943Lys)
c.1147C>A (p.Gln383Lys)
c.1141C>A (p.Gln381Lys)
n.4071C>A
n.4057C>A
15g.48756143G>ACA490311219CEP152c.3105C>T (p.Ile1035=)
c.2826C>T (p.Ile942=)
c.1146C>T (p.Ile382=)
c.1140C>T (p.Ile380=)
n.4070C>T
n.4056C>T
 dbSNP gnomAD v4
15g.48756143G>CCA392342586CEP152c.3105C>G (p.Ile1035Met)
c.2826C>G (p.Ile942Met)
c.1146C>G (p.Ile382Met)
c.1140C>G (p.Ile380Met)
n.4070C>G
n.4056C>G
15g.48756143G=CA2175628592CEP152c.3105C= (p.Ile1035=)
c.2826C= (p.Ile942=)
c.1146C= (p.Ile382=)
c.1140C= (p.Ile380=)
n.4070C=
n.4056C=
15g.48756143G>TCA490311218CEP152c.3105C>A (p.Ile1035=)
c.2826C>A (p.Ile942=)
c.1146C>A (p.Ile382=)
c.1140C>A (p.Ile380=)
n.4070C>A
n.4056C>A
15g.48756144A>CCA392342590CEP152c.3104T>G (p.Ile1035Ser)
c.2825T>G (p.Ile942Ser)
c.1145T>G (p.Ile382Ser)
c.1139T>G (p.Ile380Ser)
n.4069T>G
n.4055T>G
15g.48756144A>GCA392342593CEP152c.3104T>C (p.Ile1035Thr)
c.2825T>C (p.Ile942Thr)
c.1145T>C (p.Ile382Thr)
c.1139T>C (p.Ile380Thr)
n.4069T>C
n.4055T>C
15g.48756144A>TCA392342594CEP152c.3104T>A (p.Ile1035Asn)
c.2825T>A (p.Ile942Asn)
c.1145T>A (p.Ile382Asn)
c.1139T>A (p.Ile380Asn)
n.4069T>A
n.4055T>A
15g.48756145T>ACA392342595CEP152c.3103A>T (p.Ile1035Phe)
c.2824A>T (p.Ile942Phe)
c.1144A>T (p.Ile382Phe)
c.1138A>T (p.Ile380Phe)
n.4068A>T
n.4054A>T
15g.48756145T>CCA392342596CEP152c.3103A>G (p.Ile1035Val)
c.2824A>G (p.Ile942Val)
c.1144A>G (p.Ile382Val)
c.1138A>G (p.Ile380Val)
n.4068A>G
n.4054A>G
 gnomAD v4
15g.48756145T>GCA392342597CEP152c.3103A>C (p.Ile1035Leu)
c.2824A>C (p.Ile942Leu)
c.1144A>C (p.Ile382Leu)
c.1138A>C (p.Ile380Leu)
n.4068A>C
n.4054A>C
15g.48756146C>ACA490311220CEP152c.3102G>T (p.Arg1034=)
c.2823G>T (p.Arg941=)
c.1143G>T (p.Arg381=)
c.1137G>T (p.Arg379=)
n.4067G>T
n.4053G>T
15g.48756146C>GCA490311221CEP152c.3102G>C (p.Arg1034=)
c.2823G>C (p.Arg941=)
c.1143G>C (p.Arg381=)
c.1137G>C (p.Arg379=)
n.4067G>C
n.4053G>C
15g.48756146C>TCA490311222CEP152c.3102G>A (p.Arg1034=)
c.2823G>A (p.Arg941=)
c.1143G>A (p.Arg381=)
c.1137G>A (p.Arg379=)
n.4067G>A
n.4053G>A
15g.48756147C>ACA392342601CEP152c.3101G>T (p.Arg1034Leu)
c.2822G>T (p.Arg941Leu)
c.1142G>T (p.Arg381Leu)
c.1136G>T (p.Arg379Leu)
n.4066G>T
n.4052G>T
15g.48756147C=CA2175628596CEP152c.3101G= (p.Arg1034=)
c.2822G= (p.Arg941=)
c.1142G= (p.Arg381=)
c.1136G= (p.Arg379=)
n.4066G=
n.4052G=
15g.48756147C>GCA392342599CEP152c.3101G>C (p.Arg1034Pro)
c.2822G>C (p.Arg941Pro)
c.1142G>C (p.Arg381Pro)
c.1136G>C (p.Arg379Pro)
n.4066G>C
n.4052G>C
15g.48756147C>TCA269537715CEP152c.3101G>A (p.Arg1034Gln)
c.2822G>A (p.Arg941Gln)
c.1142G>A (p.Arg381Gln)
c.1136G>A (p.Arg379Gln)
n.4066G>A
n.4052G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.48756148G>ACA7548418CEP152c.3100C>T (p.Arg1034Trp)
c.2821C>T (p.Arg941Trp)
c.1141C>T (p.Arg381Trp)
c.1135C>T (p.Arg379Trp)
n.4065C>T
n.4051C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
15g.48756148G>CCA392342605CEP152c.3100C>G (p.Arg1034Gly)
c.2821C>G (p.Arg941Gly)
c.1141C>G (p.Arg381Gly)
c.1135C>G (p.Arg379Gly)
n.4065C>G
n.4051C>G
 gnomAD v4
15g.48756148G=CA2175628602CEP152c.3100C= (p.Arg1034=)
c.2821C= (p.Arg941=)
c.1141C= (p.Arg381=)
c.1135C= (p.Arg379=)
n.4065C=
n.4051C=
15g.48756148G>TCA490311223CEP152c.3100C>A (p.Arg1034=)
c.2821C>A (p.Arg941=)
c.1141C>A (p.Arg381=)
c.1135C>A (p.Arg379=)
n.4065C>A
n.4051C>A
 dbSNP
15g.48756149C>ACA392342608CEP152c.3099G>T (p.Lys1033Asn)
c.2820G>T (p.Lys940Asn)
c.1140G>T (p.Lys380Asn)
c.1134G>T (p.Lys378Asn)
n.4064G>T
n.4050G>T
15g.48756149C>GCA392342610CEP152c.3099G>C (p.Lys1033Asn)
c.2820G>C (p.Lys940Asn)
c.1140G>C (p.Lys380Asn)
c.1134G>C (p.Lys378Asn)
n.4064G>C
n.4050G>C
15g.48756149C>TCA490311224CEP152c.3099G>A (p.Lys1033=)
c.2820G>A (p.Lys940=)
c.1140G>A (p.Lys380=)
c.1134G>A (p.Lys378=)
n.4064G>A
n.4050G>A
15g.48756150T>ACA392342612CEP152c.3098A>T (p.Lys1033Met)
c.2819A>T (p.Lys940Met)
c.1139A>T (p.Lys380Met)
c.1133A>T (p.Lys378Met)
n.4063A>T
n.4049A>T
15g.48756150T>CCA269537724CEP152c.3098A>G (p.Lys1033Arg)
c.2819A>G (p.Lys940Arg)
c.1139A>G (p.Lys380Arg)
c.1133A>G (p.Lys378Arg)
n.4063A>G
n.4049A>G
 dbSNP gnomAD v4 COSMIC COSMIC
15g.48756150T>GCA392342616CEP152c.3098A>C (p.Lys1033Thr)
c.2819A>C (p.Lys940Thr)
c.1139A>C (p.Lys380Thr)
c.1133A>C (p.Lys378Thr)
n.4063A>C
n.4049A>C
15g.48756150T=CA2175628604CEP152c.3098A= (p.Lys1033=)
c.2819A= (p.Lys940=)
c.1139A= (p.Lys380=)
c.1133A= (p.Lys378=)
n.4063A=
n.4049A=
15g.48756151T>ACA392342619CEP152c.3097A>T (p.Lys1033Ter)
c.2818A>T (p.Lys940Ter)
c.1138A>T (p.Lys380Ter)
c.1132A>T (p.Lys378Ter)
n.4062A>T
n.4048A>T
15g.48756151T>CCA392342621CEP152c.3097A>G (p.Lys1033Glu)
c.2818A>G (p.Lys940Glu)
c.1138A>G (p.Lys380Glu)
c.1132A>G (p.Lys378Glu)
n.4062A>G
n.4048A>G
15g.48756151T>GCA392342623CEP152c.3097A>C (p.Lys1033Gln)
c.2818A>C (p.Lys940Gln)
c.1138A>C (p.Lys380Gln)
c.1132A>C (p.Lys378Gln)
n.4062A>C
n.4048A>C
15g.48756152G>ACA490311225CEP152c.3096C>T (p.Ala1032=)
c.2817C>T (p.Ala939=)
c.1137C>T (p.Ala379=)
c.1131C>T (p.Ala377=)
n.4061C>T
n.4047C>T
15g.48756152G>CCA490311226CEP152c.3096C>G (p.Ala1032=)
c.2817C>G (p.Ala939=)
c.1137C>G (p.Ala379=)
c.1131C>G (p.Ala377=)
n.4061C>G
n.4047C>G
 gnomAD v4
15g.48756152G>TCA490311227CEP152c.3096C>A (p.Ala1032=)
c.2817C>A (p.Ala939=)
c.1137C>A (p.Ala379=)
c.1131C>A (p.Ala377=)
n.4061C>A
n.4047C>A
15g.48756153G>ACA392342626CEP152c.3095C>T (p.Ala1032Val)
c.2816C>T (p.Ala939Val)
c.1136C>T (p.Ala379Val)
c.1130C>T (p.Ala377Val)
n.4060C>T
n.4046C>T
15g.48756153G>CCA392342628CEP152c.3095C>G (p.Ala1032Gly)
c.2816C>G (p.Ala939Gly)
c.1136C>G (p.Ala379Gly)
c.1130C>G (p.Ala377Gly)
n.4060C>G
n.4046C>G
15g.48756153G>TCA392342629CEP152c.3095C>A (p.Ala1032Asp)
c.2816C>A (p.Ala939Asp)
c.1136C>A (p.Ala379Asp)
c.1130C>A (p.Ala377Asp)
n.4060C>A
n.4046C>A
15g.48756154C>ACA392342633CEP152c.3094G>T (p.Ala1032Ser)
c.2815G>T (p.Ala939Ser)
c.1135G>T (p.Ala379Ser)
c.1129G>T (p.Ala377Ser)
n.4059G>T
n.4045G>T
15g.48756154C>GCA392342638CEP152c.3094G>C (p.Ala1032Pro)
c.2815G>C (p.Ala939Pro)
c.1135G>C (p.Ala379Pro)
c.1129G>C (p.Ala377Pro)
n.4059G>C
n.4045G>C
15g.48756154C>TCA392342635CEP152c.3094G>A (p.Ala1032Thr)
c.2815G>A (p.Ala939Thr)
c.1135G>A (p.Ala379Thr)
c.1129G>A (p.Ala377Thr)
n.4059G>A
n.4045G>A
15g.48756155T>ACA392342641CEP152c.3093A>T (p.Glu1031Asp)
c.2814A>T (p.Glu938Asp)
c.1134A>T (p.Glu378Asp)
c.1128A>T (p.Glu376Asp)
n.4058A>T
n.4044A>T
15g.48756155T>CCA490311228CEP152c.3093A>G (p.Glu1031=)
c.2814A>G (p.Glu938=)
c.1134A>G (p.Glu378=)
c.1128A>G (p.Glu376=)
n.4058A>G
n.4044A>G
15g.48756155T>GCA392342643CEP152c.3093A>C (p.Glu1031Asp)
c.2814A>C (p.Glu938Asp)
c.1134A>C (p.Glu378Asp)
c.1128A>C (p.Glu376Asp)
n.4058A>C
n.4044A>C
15g.48756156T>ACA392342646CEP152c.3092A>T (p.Glu1031Val)
c.2813A>T (p.Glu938Val)
c.1133A>T (p.Glu378Val)
c.1127A>T (p.Glu376Val)
n.4057A>T
n.4043A>T
15g.48756156T>CCA392342647CEP152c.3092A>G (p.Glu1031Gly)
c.2813A>G (p.Glu938Gly)
c.1133A>G (p.Glu378Gly)
c.1127A>G (p.Glu376Gly)
n.4057A>G
n.4043A>G
15g.48756156T>GCA392342648CEP152c.3092A>C (p.Glu1031Ala)
c.2813A>C (p.Glu938Ala)
c.1133A>C (p.Glu378Ala)
c.1127A>C (p.Glu376Ala)
n.4057A>C
n.4043A>C
15g.48756157C>ACA392342649CEP152c.3091G>T (p.Glu1031Ter)
c.2812G>T (p.Glu938Ter)
c.1132G>T (p.Glu378Ter)
c.1126G>T (p.Glu376Ter)
n.4056G>T
n.4042G>T
15g.48756157C>GCA392342651CEP152c.3091G>C (p.Glu1031Gln)
c.2812G>C (p.Glu938Gln)
c.1132G>C (p.Glu378Gln)
c.1126G>C (p.Glu376Gln)
n.4056G>C
n.4042G>C
15g.48756157C>TCA392342652CEP152c.3091G>A (p.Glu1031Lys)
c.2812G>A (p.Glu938Lys)
c.1132G>A (p.Glu378Lys)
c.1126G>A (p.Glu376Lys)
n.4056G>A
n.4042G>A
15g.48756158C>ACA392342653CEP152c.3090G>T (p.Gln1030His)
c.2811G>T (p.Gln937His)
c.1131G>T (p.Gln377His)
c.1125G>T (p.Gln375His)
n.4055G>T
n.4041G>T
15g.48756158C>GCA392342654CEP152c.3090G>C (p.Gln1030His)
c.2811G>C (p.Gln937His)
c.1131G>C (p.Gln377His)
c.1125G>C (p.Gln375His)
n.4055G>C
n.4041G>C
15g.48756158C>TCA490311229CEP152c.3090G>A (p.Gln1030=)
c.2811G>A (p.Gln937=)
c.1131G>A (p.Gln377=)
c.1125G>A (p.Gln375=)
n.4055G>A
n.4041G>A
 gnomAD v4
15g.48756159T>ACA392342656CEP152c.3089A>T (p.Gln1030Leu)
c.2810A>T (p.Gln937Leu)
c.1130A>T (p.Gln377Leu)
c.1124A>T (p.Gln375Leu)
n.4054A>T
n.4040A>T
15g.48756159T>CCA392342658CEP152c.3089A>G (p.Gln1030Arg)
c.2810A>G (p.Gln937Arg)
c.1130A>G (p.Gln377Arg)
c.1124A>G (p.Gln375Arg)
n.4054A>G
n.4040A>G
15g.48756159T>GCA392342659CEP152c.3089A>C (p.Gln1030Pro)
c.2810A>C (p.Gln937Pro)
c.1130A>C (p.Gln377Pro)
c.1124A>C (p.Gln375Pro)
n.4054A>C
n.4040A>C
15g.48756160G>ACA392342664CEP152c.3088C>T (p.Gln1030Ter)
c.2809C>T (p.Gln937Ter)
c.1129C>T (p.Gln377Ter)
c.1123C>T (p.Gln375Ter)
n.4053C>T
n.4039C>T
15g.48756160G>CCA392342661CEP152c.3088C>G (p.Gln1030Glu)
c.2809C>G (p.Gln937Glu)
c.1129C>G (p.Gln377Glu)
c.1123C>G (p.Gln375Glu)
n.4053C>G
n.4039C>G
15g.48756160G>TCA392342663CEP152c.3088C>A (p.Gln1030Lys)
c.2809C>A (p.Gln937Lys)
c.1129C>A (p.Gln377Lys)
c.1123C>A (p.Gln375Lys)
n.4053C>A
n.4039C>A
15g.48756161C>ACA392342665CEP152c.3087G>T (p.Met1029Ile)
c.2808G>T (p.Met936Ile)
c.1128G>T (p.Met376Ile)
c.1122G>T (p.Met374Ile)
n.4052G>T
n.4038G>T
 dbSNP gnomAD v3 gnomAD v4
15g.48756161C=CA2175628607CEP152c.3087G= (p.Met1029=)
c.2808G= (p.Met936=)
c.1128G= (p.Met376=)
c.1122G= (p.Met374=)
n.4052G=
n.4038G=
15g.48756161C>GCA392342667CEP152c.3087G>C (p.Met1029Ile)
c.2808G>C (p.Met936Ile)
c.1128G>C (p.Met376Ile)
c.1122G>C (p.Met374Ile)
n.4052G>C
n.4038G>C
15g.48756161C>TCA392342671CEP152c.3087G>A (p.Met1029Ile)
c.2808G>A (p.Met936Ile)
c.1128G>A (p.Met376Ile)
c.1122G>A (p.Met374Ile)
n.4052G>A
n.4038G>A
 dbSNP
15g.48756162A=CA2175628611CEP152c.3086T= (p.Met1029=)
c.2807T= (p.Met936=)
c.1127T= (p.Met376=)
c.1121T= (p.Met374=)
n.4051T=
n.4037T=
15g.48756162A>CCA392342674CEP152c.3086T>G (p.Met1029Arg)
c.2807T>G (p.Met936Arg)
c.1127T>G (p.Met376Arg)
c.1121T>G (p.Met374Arg)
n.4051T>G
n.4037T>G
15g.48756162A>GCA7548419CEP152c.3086T>C (p.Met1029Thr)
c.2807T>C (p.Met936Thr)
c.1127T>C (p.Met376Thr)
c.1121T>C (p.Met374Thr)
n.4051T>C
n.4037T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756162A>TCA392342676CEP152c.3086T>A (p.Met1029Lys)
c.2807T>A (p.Met936Lys)
c.1127T>A (p.Met376Lys)
c.1121T>A (p.Met374Lys)
n.4051T>A
n.4037T>A
 gnomAD v4
15g.48756163T>ACA392342678CEP152c.3085A>T (p.Met1029Leu)
c.2806A>T (p.Met936Leu)
c.1126A>T (p.Met376Leu)
c.1120A>T (p.Met374Leu)
n.4050A>T
n.4036A>T
15g.48756163T>CCA211051CEP152c.3085A>G (p.Met1029Val)
c.2806A>G (p.Met936Val)
c.1126A>G (p.Met376Val)
c.1120A>G (p.Met374Val)
n.4050A>G
n.4036A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756163T>GCA392342680CEP152c.3085A>C (p.Met1029Leu)
c.2806A>C (p.Met936Leu)
c.1126A>C (p.Met376Leu)
c.1120A>C (p.Met374Leu)
n.4050A>C
n.4036A>C
 gnomAD v4
15g.48756163T=CA2175628616CEP152c.3085A= (p.Met1029=)
c.2806A= (p.Met936=)
c.1126A= (p.Met376=)
c.1120A= (p.Met374=)
n.4050A=
n.4036A=
15g.48756164A=CA2175628621CEP152c.3084T= (p.Thr1028=)
c.2805T= (p.Thr935=)
c.1125T= (p.Thr375=)
c.1119T= (p.Thr373=)
n.4049T=
n.4035T=
15g.48756164A>CCA490311230CEP152c.3084T>G (p.Thr1028=)
c.2805T>G (p.Thr935=)
c.1125T>G (p.Thr375=)
c.1119T>G (p.Thr373=)
n.4049T>G
n.4035T>G
15g.48756164A>GCA490311232CEP152c.3084T>C (p.Thr1028=)
c.2805T>C (p.Thr935=)
c.1125T>C (p.Thr375=)
c.1119T>C (p.Thr373=)
n.4049T>C
n.4035T>C
 dbSNP gnomAD v2 gnomAD v4
15g.48756164A>TCA490311231CEP152c.3084T>A (p.Thr1028=)
c.2805T>A (p.Thr935=)
c.1125T>A (p.Thr375=)
c.1119T>A (p.Thr373=)
n.4049T>A
n.4035T>A
15g.48756165G>ACA392342683CEP152c.3083C>T (p.Thr1028Ile)
c.2804C>T (p.Thr935Ile)
c.1124C>T (p.Thr375Ile)
c.1118C>T (p.Thr373Ile)
n.4048C>T
n.4034C>T
15g.48756165G>CCA392342684CEP152c.3083C>G (p.Thr1028Ser)
c.2804C>G (p.Thr935Ser)
c.1124C>G (p.Thr375Ser)
c.1118C>G (p.Thr373Ser)
n.4048C>G
n.4034C>G
15g.48756165G>TCA392342685CEP152c.3083C>A (p.Thr1028Asn)
c.2804C>A (p.Thr935Asn)
c.1124C>A (p.Thr375Asn)
c.1118C>A (p.Thr373Asn)
n.4048C>A
n.4034C>A
15g.48756166T>ACA392342686CEP152c.3082A>T (p.Thr1028Ser)
c.2803A>T (p.Thr935Ser)
c.1123A>T (p.Thr375Ser)
c.1117A>T (p.Thr373Ser)
n.4047A>T
n.4033A>T
 dbSNP gnomAD v4
15g.48756166T>CCA392342689CEP152c.3082A>G (p.Thr1028Ala)
c.2803A>G (p.Thr935Ala)
c.1123A>G (p.Thr375Ala)
c.1117A>G (p.Thr373Ala)
n.4047A>G
n.4033A>G
15g.48756166T>GCA392342687CEP152c.3082A>C (p.Thr1028Pro)
c.2803A>C (p.Thr935Pro)
c.1123A>C (p.Thr375Pro)
c.1117A>C (p.Thr373Pro)
n.4047A>C
n.4033A>C
15g.48756166T=CA2175628623CEP152c.3082A= (p.Thr1028=)
c.2803A= (p.Thr935=)
c.1123A= (p.Thr375=)
c.1117A= (p.Thr373=)
n.4047A=
n.4033A=
15g.48756167C>ACA392342691CEP152c.3081G>T (p.Trp1027Cys)
c.2802G>T (p.Trp934Cys)
c.1122G>T (p.Trp374Cys)
c.1116G>T (p.Trp372Cys)
n.4046G>T
n.4032G>T
15g.48756167C>GCA392342694CEP152c.3081G>C (p.Trp1027Cys)
c.2802G>C (p.Trp934Cys)
c.1122G>C (p.Trp374Cys)
c.1116G>C (p.Trp372Cys)
n.4046G>C
n.4032G>C
15g.48756167C>TCA392342693CEP152c.3081G>A (p.Trp1027Ter)
c.2802G>A (p.Trp934Ter)
c.1122G>A (p.Trp374Ter)
c.1116G>A (p.Trp372Ter)
n.4046G>A
n.4032G>A
15g.48756168C>ACA392342696CEP152c.3080G>T (p.Trp1027Leu)
c.2801G>T (p.Trp934Leu)
c.1121G>T (p.Trp374Leu)
c.1115G>T (p.Trp372Leu)
n.4045G>T
n.4031G>T
15g.48756168C>GCA392342697CEP152c.3080G>C (p.Trp1027Ser)
c.2801G>C (p.Trp934Ser)
c.1121G>C (p.Trp374Ser)
c.1115G>C (p.Trp372Ser)
n.4045G>C
n.4031G>C
15g.48756168C>TCA392342698CEP152c.3080G>A (p.Trp1027Ter)
c.2801G>A (p.Trp934Ter)
c.1121G>A (p.Trp374Ter)
c.1115G>A (p.Trp372Ter)
n.4045G>A
n.4031G>A
15g.48756169A>CCA392342700CEP152c.3079T>G (p.Trp1027Gly)
c.2800T>G (p.Trp934Gly)
c.1120T>G (p.Trp374Gly)
c.1114T>G (p.Trp372Gly)
n.4044T>G
n.4030T>G
15g.48756169A>GCA392342702CEP152c.3079T>C (p.Trp1027Arg)
c.2800T>C (p.Trp934Arg)
c.1120T>C (p.Trp374Arg)
c.1114T>C (p.Trp372Arg)
n.4044T>C
n.4030T>C
 dbSNP gnomAD v3 gnomAD v4
15g.48756169A>TCA392342704CEP152c.3079T>A (p.Trp1027Arg)
c.2800T>A (p.Trp934Arg)
c.1120T>A (p.Trp374Arg)
c.1114T>A (p.Trp372Arg)
n.4044T>A
n.4030T>A
15g.48756170T>ACA392342705CEP152c.3078A>T (p.Glu1026Asp)
c.2799A>T (p.Glu933Asp)
c.1119A>T (p.Glu373Asp)
c.1113A>T (p.Glu371Asp)
n.4043A>T
n.4029A>T
15g.48756170T>CCA490311233CEP152c.3078A>G (p.Glu1026=)
c.2799A>G (p.Glu933=)
c.1119A>G (p.Glu373=)
c.1113A>G (p.Glu371=)
n.4043A>G
n.4029A>G
15g.48756170T>GCA392342706CEP152c.3078A>C (p.Glu1026Asp)
c.2799A>C (p.Glu933Asp)
c.1119A>C (p.Glu373Asp)
c.1113A>C (p.Glu371Asp)
n.4043A>C
n.4029A>C

Number of alleles fetched