Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.48688753T>ACA412873020WASn.269T>A
c.1025T>A (p.Leu342Gln)
c.932-63T>A (n.932-63T>A)
Xg.48688753T>CCA412873021WASn.269T>C
c.1025T>C (p.Leu342Pro)
c.932-63T>C (n.932-63T>C)
Xg.48688753T>GCA412873023WASn.269T>G
c.1025T>G (p.Leu342Arg)
c.932-63T>G (n.932-63T>G)
Xg.48688754G>ACA516356291WASn.270G>A
c.1026G>A (p.Leu342=)
c.932-62G>A (n.932-62G>A)
 ClinVar dbSNP gnomAD v4
Xg.48688754G>CCA516356292WASn.270G>C
c.1026G>C (p.Leu342=)
c.932-62G>C (n.932-62G>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.48688754G=CA2428355663WASn.270G=
c.1026G= (p.Leu342=)
c.932-62G= (n.932-62G=)
Xg.48688754G>TCA516356293WASn.270G>T
c.1026G>T (p.Leu342=)
c.932-62G>T (n.932-62G>T)
Xg.48688755C>ACA412873030WASn.271C>A
c.1027C>A (p.Pro343Thr)
c.932-61C>A (n.932-61C>A)
 gnomAD v4
Xg.48688755C>GCA412873026WASn.271C>G
c.1027C>G (p.Pro343Ala)
c.932-61C>G (n.932-61C>G)
Xg.48688755C>TCA412873028WASn.271C>T
c.1027C>T (p.Pro343Ser)
c.932-61C>T (n.932-61C>T)
Xg.48688759delCA2579600717WASn.275del
c.1031del (p.Pro344LeufsTer?)
c.932-57del (n.932-57del)
Xg.48688756C>ACA412873032WASn.272C>A
c.1028C>A (p.Pro343His)
c.932-60C>A (n.932-60C>A)
 gnomAD v4
Xg.48688756C>GCA412873034WASn.272C>G
c.1028C>G (p.Pro343Arg)
c.932-60C>G (n.932-60C>G)
Xg.48688756C>TCA412873036WASn.272C>T
c.1028C>T (p.Pro343Leu)
c.932-60C>T (n.932-60C>T)
 ClinVar gnomAD v4
Xg.48688757C>ACA516356296WASn.273C>A
c.1029C>A (p.Pro343=)
c.932-59C>A (n.932-59C>A)
Xg.48688757C=CA2428355664WASn.273C=
c.1029C= (p.Pro343=)
c.932-59C= (n.932-59C=)
Xg.48688757C>GCA516356297WASn.273C>G
c.1029C>G (p.Pro343=)
c.932-59C>G (n.932-59C>G)
Xg.48688757C>TCA516356298WASn.273C>T
c.1029C>T (p.Pro343=)
c.932-59C>T (n.932-59C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.48688758C>ACA412873038WASn.274C>A
c.1030C>A (p.Pro344Thr)
c.932-58C>A (n.932-58C>A)
Xg.48688758C>GCA412873040WASn.274C>G
c.1030C>G (p.Pro344Ala)
c.932-58C>G (n.932-58C>G)
 gnomAD v4
Xg.48688758C>TCA412873042WASn.274C>T
c.1030C>T (p.Pro344Ser)
c.932-58C>T (n.932-58C>T)
Xg.48688759C>ACA412873044WASn.275C>A
c.1031C>A (p.Pro344His)
c.932-57C>A (n.932-57C>A)
 gnomAD v4
Xg.48688759C>GCA412873046WASn.275C>G
c.1031C>G (p.Pro344Arg)
c.932-57C>G (n.932-57C>G)
Xg.48688759C>TCA412873048WASn.275C>T
c.1031C>T (p.Pro344Leu)
c.932-57C>T (n.932-57C>T)
Xg.48688760delCA2695233765WASn.276del
c.1032del (p.Val345TyrfsTer?)
c.932-56del (n.932-56del)
Xg.48688760T>ACA516356302WASn.276T>A
c.1032T>A (p.Pro344=)
c.932-56T>A (n.932-56T>A)
Xg.48688760T>CCA516356303WASn.276T>C
c.1032T>C (p.Pro344=)
c.932-56T>C (n.932-56T>C)
 gnomAD v4
Xg.48688760T>GCA516356304WASn.276T>G
c.1032T>G (p.Pro344=)
c.932-56T>G (n.932-56T>G)
 ClinVar
Xg.48688761G>ACA412873051WASn.277G>A
c.1033G>A (p.Val345Ile)
c.932-55G>A (n.932-55G>A)
 gnomAD v4
Xg.48688761G>CCA412873052WASn.277G>C
c.1033G>C (p.Val345Leu)
c.932-55G>C (n.932-55G>C)
 dbSNP gnomAD v2
Xg.48688761G=CA2428355665WASn.277G=
c.1033G= (p.Val345=)
c.932-55G= (n.932-55G=)
Xg.48688761G>TCA412873054WASn.277G>T
c.1033G>T (p.Val345Leu)
c.932-55G>T (n.932-55G>T)
Xg.48688762delCA2579600718WASn.278del
c.1034del (p.Val345AspfsTer?)
c.932-54del (n.932-54del)
Xg.48688762T>ACA412873058WASn.278T>A
c.1034T>A (p.Val345Glu)
c.932-54T>A (n.932-54T>A)
Xg.48688762T>CCA412873060WASn.278T>C
c.1034T>C (p.Val345Ala)
c.932-54T>C (n.932-54T>C)
Xg.48688762T>GCA412873056WASn.278T>G
c.1034T>G (p.Val345Gly)
c.932-54T>G (n.932-54T>G)
Xg.48688763A>CCA516356307WASn.279A>C
c.1035A>C (p.Val345=)
c.932-53A>C (n.932-53A>C)
Xg.48688763A>GCA516356308WASn.279A>G
c.1035A>G (p.Val345=)
c.932-53A>G (n.932-53A>G)
Xg.48688763A>TCA516356309WASn.279A>T
c.1035A>T (p.Val345=)
c.932-53A>T (n.932-53A>T)
Xg.48688764C>ACA412873062WASn.280C>A
c.1036C>A (p.Pro346Thr)
c.932-52C>A (n.932-52C>A)
Xg.48688764C>GCA412873066WASn.280C>G
c.1036C>G (p.Pro346Ala)
c.932-52C>G (n.932-52C>G)
Xg.48688764C>TCA412873064WASn.280C>T
c.1036C>T (p.Pro346Ser)
c.932-52C>T (n.932-52C>T)
Xg.48688765delCA2695233766WASn.281del
c.1037del (p.Pro346LeufsTer?)
c.932-51del (n.932-51del)
Xg.48688765C>ACA412873068WASn.281C>A
c.1037C>A (p.Pro346His)
c.932-51C>A (n.932-51C>A)
 gnomAD v4
Xg.48688765C>GCA412873071WASn.281C>G
c.1037C>G (p.Pro346Arg)
c.932-51C>G (n.932-51C>G)
Xg.48688765C>TCA412873072WASn.281C>T
c.1037C>T (p.Pro346Leu)
c.932-51C>T (n.932-51C>T)
 gnomAD v4
Xg.48688766T>ACA516356313WASn.282T>A
c.1038T>A (p.Pro346=)
c.932-50T>A (n.932-50T>A)
Xg.48688766T>CCA516356314WASn.282T>C
c.1038T>C (p.Pro346=)
c.932-50T>C (n.932-50T>C)
Xg.48688766T>GCA516356315WASn.282T>G
c.1038T>G (p.Pro346=)
c.932-50T>G (n.932-50T>G)
 ClinVar
Xg.48688768dupCA2580101058WASn.284dup
c.1040dup (p.Leu347PhefsTer?)
c.932-48dup (n.932-48dup)
 ClinVar
Xg.48688767T>ACA412873073WASn.283T>A
c.1039T>A (p.Leu347Met)
c.932-49T>A (n.932-49T>A)
Xg.48688767T>CCA10404032WASn.283T>C
c.1039T>C (p.Leu347=)
c.932-49T>C (n.932-49T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688767T>GCA412873075WASn.283T>G
c.1039T>G (p.Leu347Val)
c.932-49T>G (n.932-49T>G)
Xg.48688767T=CA2428355666WASn.283T=
c.1039T= (p.Leu347=)
c.932-49T= (n.932-49T=)
Xg.48688768T>ACA412873076WASn.284T>A
c.1040T>A (p.Leu347Ter)
c.932-48T>A (n.932-48T>A)
Xg.48688768T>CCA412873077WASn.284T>C
c.1040T>C (p.Leu347Ser)
c.932-48T>C (n.932-48T>C)
Xg.48688768T>GCA412873080WASn.284T>G
c.1040T>G (p.Leu347Trp)
c.932-48T>G (n.932-48T>G)
Xg.48688769G>ACA516356319WASn.285G>A
c.1041G>A (p.Leu347=)
c.932-47G>A (n.932-47G>A)
 gnomAD v4
Xg.48688769G>CCA412873082WASn.285G>C
c.1041G>C (p.Leu347Phe)
c.932-47G>C (n.932-47G>C)
Xg.48688769G>TCA412873084WASn.285G>T
c.1041G>T (p.Leu347Phe)
c.932-47G>T (n.932-47G>T)
Xg.48688770G>ACA412873090WASn.286G>A
c.1042G>A (p.Gly348Arg)
c.932-46G>A (n.932-46G>A)
Xg.48688770G>CCA412873086WASn.286G>C
c.1042G>C (p.Gly348Arg)
c.932-46G>C (n.932-46G>C)
Xg.48688770G>TCA412873088WASn.286G>T
c.1042G>T (p.Gly348Trp)
c.932-46G>T (n.932-46G>T)
Xg.48688771G>ACA412873092WASn.287G>A
c.1043G>A (p.Gly348Glu)
c.932-45G>A (n.932-45G>A)
 dbSNP
Xg.48688771G>CCA412873094WASn.287G>C
c.1043G>C (p.Gly348Ala)
c.932-45G>C (n.932-45G>C)
Xg.48688771G=CA2428355667WASn.287G=
c.1043G= (p.Gly348=)
c.932-45G= (n.932-45G=)
Xg.48688771G>TCA412873095WASn.287G>T
c.1043G>T (p.Gly348Val)
c.932-45G>T (n.932-45G>T)
Xg.48688772G>ACA516356323WASn.288G>A
c.1044G>A (p.Gly348=)
c.932-44G>A (n.932-44G>A)
Xg.48688772G>CCA516356324WASn.288G>C
c.1044G>C (p.Gly348=)
c.932-44G>C (n.932-44G>C)
Xg.48688772G>TCA516356325WASn.288G>T
c.1044G>T (p.Gly348=)
c.932-44G>T (n.932-44G>T)
Xg.48688773delCA2579600719WASn.289del
c.1045del (p.Ile349LeufsTer?)
c.932-43del (n.932-43del)
Xg.48688773A>CCA412873098WASn.289A>C
c.1045A>C (p.Ile349Leu)
c.932-43A>C (n.932-43A>C)
 gnomAD v4
Xg.48688773A>GCA412873099WASn.289A>G
c.1045A>G (p.Ile349Val)
c.932-43A>G (n.932-43A>G)
 gnomAD v4
Xg.48688773A>TCA412873100WASn.289A>T
c.1045A>T (p.Ile349Phe)
c.932-43A>T (n.932-43A>T)
Xg.48688774T>ACA412873104WASn.290T>A
c.1046T>A (p.Ile349Asn)
c.932-42T>A (n.932-42T>A)
Xg.48688774T>CCA412873105WASn.290T>C
c.1046T>C (p.Ile349Thr)
c.932-42T>C (n.932-42T>C)
 gnomAD v4
Xg.48688774T>GCA412873107WASn.290T>G
c.1046T>G (p.Ile349Ser)
c.932-42T>G (n.932-42T>G)
Xg.48688775dupCA2695233767WASn.291dup
c.1047dup (p.Ala350CysfsTer?)
c.932-41dup (n.932-41dup)
Xg.48688775T>ACA516356329WASn.291T>A
c.1047T>A (p.Ile349=)
c.932-41T>A (n.932-41T>A)
Xg.48688775T>CCA516356330WASn.291T>C
c.1047T>C (p.Ile349=)
c.932-41T>C (n.932-41T>C)
 gnomAD v4
Xg.48688775T>GCA412873109WASn.291T>G
c.1047T>G (p.Ile349Met)
c.932-41T>G (n.932-41T>G)
Xg.48688776G>ACA412873115WASn.292G>A
c.1048G>A (p.Ala350Thr)
c.932-40G>A (n.932-40G>A)
 gnomAD v4
Xg.48688776G>CCA412873114WASn.292G>C
c.1048G>C (p.Ala350Pro)
c.932-40G>C (n.932-40G>C)
Xg.48688776G>TCA412873111WASn.292G>T
c.1048G>T (p.Ala350Ser)
c.932-40G>T (n.932-40G>T)
 gnomAD v4
Xg.48688777C>ACA412873117WASn.293C>A
c.1049C>A (p.Ala350Asp)
c.932-39C>A (n.932-39C>A)
 gnomAD v4
Xg.48688777C=CA2428355668WASn.293C=
c.1049C= (p.Ala350=)
c.932-39C= (n.932-39C=)
Xg.48688777C>GCA412873119WASn.293C>G
c.1049C>G (p.Ala350Gly)
c.932-39C>G (n.932-39C>G)
 gnomAD v4
Xg.48688777C>TCA412873120WASn.293C>T
c.1049C>T (p.Ala350Val)
c.932-39C>T (n.932-39C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688780dupCA2695233768WASn.296dup
c.1052dup (p.Pro352ThrfsTer?)
c.932-36dup (n.932-36dup)
Xg.48688780delCA2499226746WASn.296del
c.1052del (p.Pro351HisfsTer?)
c.932-36del (n.932-36del)
 ClinVar dbSNP
Xg.48688784_48688789delCA2579600720WASn.300_305del
c.1056_1061del (p.Pro353_Pro354del)
c.932-32_932-27del (n.932-32_932-27del)
 gnomAD v4
Xg.48688788_48688814delCA2693644613WASn.304_330del
c.1060_1086del (p.Pro354_Pro362del)
c.932-28_932-2del (n.932-28_932-2del)
 gnomAD v4
Xg.48688778C>ACA516356335WASn.294C>A
c.1050C>A (p.Ala350=)
c.932-38C>A (n.932-38C>A)
 gnomAD v4
Xg.48688778C=CA2428355669WASn.294C=
c.1050C= (p.Ala350=)
c.932-38C= (n.932-38C=)
Xg.48688778C>GCA516356336WASn.294C>G
c.1050C>G (p.Ala350=)
c.932-38C>G (n.932-38C>G)
Xg.48688778C>TCA516356334WASn.294C>T
c.1050C>T (p.Ala350=)
c.932-38C>T (n.932-38C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688779C>ACA412873122WASn.295C>A
c.1051C>A (p.Pro351Thr)
c.932-37C>A (n.932-37C>A)
 gnomAD v4
Xg.48688779C>GCA412873124WASn.295C>G
c.1051C>G (p.Pro351Ala)
c.932-37C>G (n.932-37C>G)
 gnomAD v4
Xg.48688779C>TCA412873126WASn.295C>T
c.1051C>T (p.Pro351Ser)
c.932-37C>T (n.932-37C>T)
Xg.48688780C>ACA412873128WASn.296C>A
c.1052C>A (p.Pro351Gln)
c.932-36C>A (n.932-36C>A)
 gnomAD v4
Xg.48688780C>GCA412873129WASn.296C>G
c.1052C>G (p.Pro351Arg)
c.932-36C>G (n.932-36C>G)
Xg.48688780C>TCA412873131WASn.296C>T
c.1052C>T (p.Pro351Leu)
c.932-36C>T (n.932-36C>T)
Xg.48688781A=CA2428355671WASn.297A=
c.1053A= (p.Pro351=)
c.932-35A= (n.932-35A=)
Xg.48688781A>CCA516356338WASn.297A>C
c.1053A>C (p.Pro351=)
c.932-35A>C (n.932-35A>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.48688781A>GCA516356339WASn.297A>G
c.1053A>G (p.Pro351=)
c.932-35A>G (n.932-35A>G)
Xg.48688781A>TCA516356340WASn.297A>T
c.1053A>T (p.Pro351=)
c.932-35A>T (n.932-35A>T)
Xg.48688781_48688782delinsACCA2428355670WASn.297_298delinsAC
c.1053_1054delinsAC (p.Pro351=)
c.932-35_932-34delinsAC (n.932-35_932-34delinsAC)
Xg.48688782C>ACA412873132WASn.298C>A
c.1054C>A (p.Pro352Thr)
c.932-34C>A (n.932-34C>A)
 gnomAD v4
Xg.48688782C=CA2428355672WASn.298C=
c.1054C= (p.Pro352=)
c.932-34C= (n.932-34C=)
Xg.48688782C>GCA412873133WASn.298C>G
c.1054C>G (p.Pro352Ala)
c.932-34C>G (n.932-34C>G)
Xg.48688782C>TCA412873135WASn.298C>T
c.1054C>T (p.Pro352Ser)
c.932-34C>T (n.932-34C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688786dupCA916081268WASn.302dup
c.1058dup (p.Pro354ThrfsTer?)
c.932-30dup (n.932-30dup)
 ClinVar dbSNP
Xg.48688786delCA516356341WASn.302del
c.1058del (p.Pro353HisfsTer?)
c.932-30del (n.932-30del)
 ClinVar dbSNP gnomAD v4 COSMIC
Xg.48688783C>ACA412873141WASn.299C>A
c.1055C>A (p.Pro352His)
c.932-33C>A (n.932-33C>A)
 gnomAD v4
Xg.48688783C>GCA412873136WASn.299C>G
c.1055C>G (p.Pro352Arg)
c.932-33C>G (n.932-33C>G)
Xg.48688783C>TCA412873139WASn.299C>T
c.1055C>T (p.Pro352Leu)
c.932-33C>T (n.932-33C>T)
Xg.48688784C>ACA516356345WASn.300C>A
c.1056C>A (p.Pro352=)
c.932-32C>A (n.932-32C>A)
 gnomAD v4
Xg.48688784C>GCA516356347WASn.300C>G
c.1056C>G (p.Pro352=)
c.932-32C>G (n.932-32C>G)
Xg.48688784C>TCA516356346WASn.300C>T
c.1056C>T (p.Pro352=)
c.932-32C>T (n.932-32C>T)
 ClinVar gnomAD v4
Xg.48688784_48688787delinsCCCACA2428355673WASn.300_303delinsCCCA
c.1056_1059delinsCCCA (p.Pro352=)
c.932-32_932-29delinsCCCA (n.932-32_932-29delinsCCCA)
Xg.48688785C>ACA412873144WASn.301C>A
c.1057C>A (p.Pro353Thr)
c.932-31C>A (n.932-31C>A)
 gnomAD v3 gnomAD v4 COSMIC
Xg.48688785C>GCA412873146WASn.301C>G
c.1057C>G (p.Pro353Ala)
c.932-31C>G (n.932-31C>G)
Xg.48688785C>TCA412873148WASn.301C>T
c.1057C>T (p.Pro353Ser)
c.932-31C>T (n.932-31C>T)
Xg.48688788_48688790delCA891844003WASn.304_306del
c.1060_1062del (p.Pro354del)
c.932-28_932-26del (n.932-28_932-26del)
 ClinVar dbSNP
Xg.48688786C>ACA412873150WASn.302C>A
c.1058C>A (p.Pro353Gln)
c.932-30C>A (n.932-30C>A)
 gnomAD v4
Xg.48688786C>GCA412873151WASn.302C>G
c.1058C>G (p.Pro353Arg)
c.932-30C>G (n.932-30C>G)
Xg.48688786C>TCA412873152WASn.302C>T
c.1058C>T (p.Pro353Leu)
c.932-30C>T (n.932-30C>T)
 gnomAD v4
Xg.48688787A=CA2428355674WASn.303A=
c.1059A= (p.Pro353=)
c.932-29A= (n.932-29A=)
Xg.48688787A>CCA516356348WASn.303A>C
c.1059A>C (p.Pro353=)
c.932-29A>C (n.932-29A>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688787A>GCA516356349WASn.303A>G
c.1059A>G (p.Pro353=)
c.932-29A>G (n.932-29A>G)
 gnomAD v4
Xg.48688787A>TCA516356350WASn.303A>T
c.1059A>T (p.Pro353=)
c.932-29A>T (n.932-29A>T)
Xg.48688788C>ACA412873154WASn.304C>A
c.1060C>A (p.Pro354Thr)
c.932-28C>A (n.932-28C>A)
 gnomAD v4
Xg.48688788C=CA2428355675WASn.304C=
c.1060C= (p.Pro354=)
c.932-28C= (n.932-28C=)
Xg.48688788C>GCA412873156WASn.304C>G
c.1060C>G (p.Pro354Ala)
c.932-28C>G (n.932-28C>G)
 dbSNP
Xg.48688788C>TCA412873158WASn.304C>T
c.1060C>T (p.Pro354Ser)
c.932-28C>T (n.932-28C>T)
Xg.48688789C>ACA412873162WASn.305C>A
c.1061C>A (p.Pro354Gln)
c.932-27C>A (n.932-27C>A)
 gnomAD v4
Xg.48688789C>GCA412873163WASn.305C>G
c.1061C>G (p.Pro354Arg)
c.932-27C>G (n.932-27C>G)
Xg.48688789C>TCA412873165WASn.305C>T
c.1061C>T (p.Pro354Leu)
c.932-27C>T (n.932-27C>T)
Xg.48688790A=CA2428355676WASn.306A=
c.1062A= (p.Pro354=)
c.932-26A= (n.932-26A=)
Xg.48688790A>CCA516356354WASn.306A>C
c.1062A>C (p.Pro354=)
c.932-26A>C (n.932-26A>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.48688790A>GCA516356355WASn.306A>G
c.1062A>G (p.Pro354=)
c.932-26A>G (n.932-26A>G)
Xg.48688790A>TCA516356356WASn.306A>T
c.1062A>T (p.Pro354=)
c.932-26A>T (n.932-26A>T)
Xg.48688791A>CCA412873169WASn.307A>C
c.1063A>C (p.Thr355Pro)
c.932-25A>C (n.932-25A>C)
 gnomAD v4
Xg.48688791A>GCA412873171WASn.307A>G
c.1063A>G (p.Thr355Ala)
c.932-25A>G (n.932-25A>G)
Xg.48688791A>TCA412873167WASn.307A>T
c.1063A>T (p.Thr355Ser)
c.932-25A>T (n.932-25A>T)
Xg.48688792C>ACA412873175WASn.308C>A
c.1064C>A (p.Thr355Lys)
c.932-24C>A (n.932-24C>A)
 gnomAD v4
Xg.48688792C=CA2428355677WASn.308C=
c.1064C= (p.Thr355=)
c.932-24C= (n.932-24C=)
Xg.48688792C>GCA412873173WASn.308C>G
c.1064C>G (p.Thr355Arg)
c.932-24C>G (n.932-24C>G)
Xg.48688792C>TCA10404033WASn.308C>T
c.1064C>T (p.Thr355Ile)
c.932-24C>T (n.932-24C>T)
 dbSNP ExAC gnomAD v2
Xg.48688793A=CA2428355678WASn.309A=
c.1065A= (p.Thr355=)
c.932-23A= (n.932-23A=)
Xg.48688793A>CCA516356360WASn.309A>C
c.1065A>C (p.Thr355=)
c.932-23A>C (n.932-23A>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.48688793A>GCA516356361WASn.309A>G
c.1065A>G (p.Thr355=)
c.932-23A>G (n.932-23A>G)
Xg.48688793A>TCA516356362WASn.309A>T
c.1065A>T (p.Thr355=)
c.932-23A>T (n.932-23A>T)
Xg.48688794C>ACA412873178WASn.310C>A
c.1066C>A (p.Pro356Thr)
c.932-22C>A (n.932-22C>A)
 gnomAD v4
Xg.48688794C>GCA412873179WASn.310C>G
c.1066C>G (p.Pro356Ala)
c.932-22C>G (n.932-22C>G)
Xg.48688794C>TCA412873181WASn.310C>T
c.1066C>T (p.Pro356Ser)
c.932-22C>T (n.932-22C>T)
Xg.48688797dupCA2693644645WASn.313dup
c.1069dup (p.Arg357ProfsTer?)
c.932-19dup (n.932-19dup)
 gnomAD v4
Xg.48688795C>ACA412873184WASn.311C>A
c.1067C>A (p.Pro356His)
c.932-21C>A (n.932-21C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.48688795C=CA2428355679WASn.311C=
c.1067C= (p.Pro356=)
c.932-21C= (n.932-21C=)
Xg.48688795C>GCA412873186WASn.311C>G
c.1067C>G (p.Pro356Arg)
c.932-21C>G (n.932-21C>G)
Xg.48688795C>TCA412873188WASn.311C>T
c.1067C>T (p.Pro356Leu)
c.932-21C>T (n.932-21C>T)
Xg.48688796C>ACA516356365WASn.312C>A
c.1068C>A (p.Pro356=)
c.932-20C>A (n.932-20C>A)
 gnomAD v4
Xg.48688796C>GCA516356366WASn.312C>G
c.1068C>G (p.Pro356=)
c.932-20C>G (n.932-20C>G)
Xg.48688796C>TCA516356367WASn.312C>T
c.1068C>T (p.Pro356=)
c.932-20C>T (n.932-20C>T)
 ClinVar gnomAD v4
Xg.48688797C>ACA516356368WASn.313C>A
c.1069C>A (p.Arg357=)
c.932-19C>A (n.932-19C>A)
 gnomAD v4
Xg.48688797C=CA2428355680WASn.313C=
c.1069C= (p.Arg357=)
c.932-19C= (n.932-19C=)
Xg.48688797C>GCA412873190WASn.313C>G
c.1069C>G (p.Arg357Gly)
c.932-19C>G (n.932-19C>G)
Xg.48688797C>TCA412873193WASn.313C>T
c.1069C>T (p.Arg357Trp)
c.932-19C>T (n.932-19C>T)
 dbSNP gnomAD v4
Xg.48688798G>ACA412873195WASn.314G>A
c.1070G>A (p.Arg357Gln)
c.932-18G>A (n.932-18G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.48688798G>CCA412873197WASn.314G>C
c.1070G>C (p.Arg357Pro)
c.932-18G>C (n.932-18G>C)
 gnomAD v3 gnomAD v4
Xg.48688798G=CA2428355681WASn.314G=
c.1070G= (p.Arg357=)
c.932-18G= (n.932-18G=)
Xg.48688798G>TCA412873198WASn.314G>T
c.1070G>T (p.Arg357Leu)
c.932-18G>T (n.932-18G>T)
 gnomAD v4
Xg.48688801dupCA2695233769WASn.317dup
c.1073dup (p.Pro359ThrfsTer?)
c.932-15dup (n.932-15dup)
 ClinVar
Xg.48688799G>ACA516356373WASn.315G>A
c.1071G>A (p.Arg357=)
c.932-17G>A (n.932-17G>A)
Xg.48688799G>CCA516356372WASn.315G>C
c.1071G>C (p.Arg357=)
c.932-17G>C (n.932-17G>C)
Xg.48688799G>TCA516356371WASn.315G>T
c.1071G>T (p.Arg357=)
c.932-17G>T (n.932-17G>T)
Xg.48688800G>ACA412873204WASn.316G>A
c.1072G>A (p.Gly358Arg)
c.932-16G>A (n.932-16G>A)
Xg.48688800G>CCA412873202WASn.316G>C
c.1072G>C (p.Gly358Arg)
c.932-16G>C (n.932-16G>C)
Xg.48688800G>TCA412873200WASn.316G>T
c.1072G>T (p.Gly358Ter)
c.932-16G>T (n.932-16G>T)
Xg.48688801G>ACA329102214WASn.317G>A
c.1073G>A (p.Gly358Glu)
c.932-15G>A (n.932-15G>A)
 ClinVar dbSNP
Xg.48688801G>CCA412873207WASn.317G>C
c.1073G>C (p.Gly358Ala)
c.932-15G>C (n.932-15G>C)
 gnomAD v4
Xg.48688801G=CA2428355682WASn.317G=
c.1073G= (p.Gly358=)
c.932-15G= (n.932-15G=)
Xg.48688801G>TCA412873209WASn.317G>T
c.1073G>T (p.Gly358Val)
c.932-15G>T (n.932-15G>T)
 COSMIC
Xg.48688801_48688802delCA2695233770WASn.317_318del
c.1073_1074del (p.Gly358AlafsTer?)
c.932-15_932-14del (n.932-15_932-14del)
Xg.48688802A=CA2428355683WASn.318A=
c.1074A= (p.Gly358=)
c.932-14A= (n.932-14A=)
Xg.48688802A>CCA516356379WASn.318A>C
c.1074A>C (p.Gly358=)
c.932-14A>C (n.932-14A>C)
 ClinVar gnomAD v3 gnomAD v4
Xg.48688802A>GCA516356378WASn.318A>G
c.1074A>G (p.Gly358=)
c.932-14A>G (n.932-14A>G)
 dbSNP gnomAD v4
Xg.48688802A>TCA516356377WASn.318A>T
c.1074A>T (p.Gly358=)
c.932-14A>T (n.932-14A>T)
Xg.48688802dupCA2695233771WASn.318dup
c.1074dup (p.Pro359ThrfsTer?)
c.932-14dup (n.932-14dup)
Xg.48688809_48688814delCA2693644654WASn.325_330del
c.1081_1086del (p.Pro361_Pro362del)
c.932-7_932-2del (n.932-7_932-2del)
 gnomAD v4
Xg.48688803C>ACA412873212WASn.319C>A
c.1075C>A (p.Pro359Thr)
c.932-13C>A (n.932-13C>A)
 dbSNP
Xg.48688803C=CA2428355684WASn.319C=
c.1075C= (p.Pro359=)
c.932-13C= (n.932-13C=)
Xg.48688803C>GCA412873213WASn.319C>G
c.1075C>G (p.Pro359Ala)
c.932-13C>G (n.932-13C>G)
Xg.48688803C>TCA412873215WASn.319C>T
c.1075C>T (p.Pro359Ser)
c.932-13C>T (n.932-13C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.48688803_48688804delinsACA2695233772WASn.319_320delinsA
c.1075_1076delinsA (p.Pro359ThrfsTer?)
c.932-13_932-12delinsA (n.932-13_932-12delinsA)
Xg.48688807dupCA2582342903WASn.323dup
c.1079dup (p.Pro361ThrfsTer?)
c.932-9dup (n.932-9dup)
 ClinVar
Xg.48688807delCA2579600721WASn.323del
c.1079del (p.Pro360HisfsTer?)
c.932-9del (n.932-9del)
 gnomAD v4
Xg.48688804C>ACA412873217WASn.320C>A
c.1076C>A (p.Pro359His)
c.932-12C>A (n.932-12C>A)
 gnomAD v4
Xg.48688804C>GCA412873219WASn.320C>G
c.1076C>G (p.Pro359Arg)
c.932-12C>G (n.932-12C>G)
Xg.48688804C>TCA412873221WASn.320C>T
c.1076C>T (p.Pro359Leu)
c.932-12C>T (n.932-12C>T)
 gnomAD v4
Xg.48688805C>ACA516356382WASn.321C>A
c.1077C>A (p.Pro359=)
c.932-11C>A (n.932-11C>A)
 gnomAD v4
Xg.48688805C=CA2428355685WASn.321C=
c.1077C= (p.Pro359=)
c.932-11C= (n.932-11C=)
Xg.48688805C>GCA516356383WASn.321C>G
c.1077C>G (p.Pro359=)
c.932-11C>G (n.932-11C>G)
Xg.48688805C>TCA10404034WASn.321C>T
c.1077C>T (p.Pro359=)
c.932-11C>T (n.932-11C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48688806C>ACA412873224WASn.322C>A
c.1078C>A (p.Pro360Thr)
c.932-10C>A (n.932-10C>A)
 gnomAD v4
Xg.48688806C>GCA412873226WASn.322C>G
c.1078C>G (p.Pro360Ala)
c.932-10C>G (n.932-10C>G)
Xg.48688806C>TCA412873228WASn.322C>T
c.1078C>T (p.Pro360Ser)
c.932-10C>T (n.932-10C>T)
 gnomAD v4
Xg.48688807C>ACA412873232WASn.323C>A
c.1079C>A (p.Pro360Gln)
c.932-9C>A (n.932-9C>A)
 dbSNP gnomAD v4
Xg.48688807C=CA2428355686WASn.323C=
c.1079C= (p.Pro360=)
c.932-9C= (n.932-9C=)
Xg.48688807C>GCA412873234WASn.323C>G
c.1079C>G (p.Pro360Arg)
c.932-9C>G (n.932-9C>G)
Xg.48688807C>TCA412873230WASn.323C>T
c.1079C>T (p.Pro360Leu)
c.932-9C>T (n.932-9C>T)
 dbSNP gnomAD v2
Xg.48688808delCA2693644674WASn.324del
c.1080del (p.Pro362GlnfsTer?)
c.932-8del (n.932-8del)
 gnomAD v4
Xg.48688808A=CA2428355687WASn.324A=
c.1080A= (p.Pro360=)
c.932-8A= (n.932-8A=)
Xg.48688808A>CCA516356386WASn.324A>C
c.1080A>C (p.Pro360=)
c.932-8A>C (n.932-8A>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688808A>GCA516356387WASn.324A>G
c.1080A>G (p.Pro360=)
c.932-8A>G (n.932-8A>G)
Xg.48688808A>TCA516356388WASn.324A>T
c.1080A>T (p.Pro360=)
c.932-8A>T (n.932-8A>T)
 gnomAD v4
Xg.48688809C>ACA10404035WASn.325C>A
c.1081C>A (p.Pro361Thr)
c.932-7C>A (n.932-7C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688809C=CA2428355688WASn.325C=
c.1081C= (p.Pro361=)
c.932-7C= (n.932-7C=)
Xg.48688809C>GCA412873237WASn.325C>G
c.1081C>G (p.Pro361Ala)
c.932-7C>G (n.932-7C>G)
Xg.48688809C>TCA412873239WASn.325C>T
c.1081C>T (p.Pro361Ser)
c.932-7C>T (n.932-7C>T)
 gnomAD v4
Xg.48688813delCA2573158942WASn.329del
c.1085del (p.Pro362GlnfsTer?)
c.932-3del (n.932-3del)
 ClinVar dbSNP gnomAD v4
Xg.48688810C>ACA412873241WASn.326C>A
c.1082C>A (p.Pro361His)
c.932-6C>A (n.932-6C>A)
 gnomAD v4
Xg.48688810C>GCA412873242WASn.326C>G
c.1082C>G (p.Pro361Arg)
c.932-6C>G (n.932-6C>G)
Xg.48688810C>TCA412873243WASn.326C>T
c.1082C>T (p.Pro361Leu)
c.932-6C>T (n.932-6C>T)
 gnomAD v4
Xg.48688810_48688814delCA2693644684WASn.326_330del
c.1082_1086del (p.Pro361ArgfsTer?)
c.932-6_932-2del (n.932-6_932-2del)
 gnomAD v4
Xg.48688811C>ACA516356392WASn.327C>A
c.1083C>A (p.Pro361=)
c.932-5C>A (n.932-5C>A)
 gnomAD v4
Xg.48688811C>GCA516356393WASn.327C>G
c.1083C>G (p.Pro361=)
c.932-5C>G (n.932-5C>G)
Xg.48688811C>TCA516356394WASn.327C>T
c.1083C>T (p.Pro361=)
c.932-5C>T (n.932-5C>T)
Xg.48688812C>ACA412873244WASn.328C>A
c.1084C>A (p.Pro362Thr)
c.932-4C>A (n.932-4C>A)
 ClinVar dbSNP gnomAD v4
Xg.48688812C>GCA412873245WASn.328C>G
c.1084C>G (p.Pro362Ala)
c.932-4C>G (n.932-4C>G)
Xg.48688812C>TCA412873246WASn.328C>T
c.1084C>T (p.Pro362Ser)
c.932-4C>T (n.932-4C>T)
Xg.48688813C>ACA412873250WASn.329C>A
c.1085C>A (p.Pro362Gln)
c.932-3C>A (n.932-3C>A)
 gnomAD v4
Xg.48688813C>GCA412873255WASn.329C>G
c.1085C>G (p.Pro362Arg)
c.932-3C>G (n.932-3C>G)
Xg.48688813C>TCA412873257WASn.329C>T
c.1085C>T (p.Pro362Leu)
c.932-3C>T (n.932-3C>T)
Xg.48688814delCA2695233773WASn.330del
c.1086del (p.Gly363AlafsTer?)
c.932-2del (n.932-2del)
Xg.48688814A=CA2428355689WASn.330A=
c.1086A= (p.Pro362=)
c.932-2A= (n.932-2A=)
Xg.48688814A>CCA516356397WASn.330A>C
c.1086A>C (p.Pro362=)
c.932-2A>C (n.932-2A>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688814A>GCA516356398WASn.330A>G
c.1086A>G (p.Pro362=)
c.932-2A>G (n.932-2A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.48688814A>TCA516356399WASn.330A>T
c.1086A>T (p.Pro362=)
c.932-2A>T (n.932-2A>T)
Xg.48688814_48688816delCA2693644698WASn.330_332del
c.1086_1088del (p.Gly363del)
c.932-2_932del
 gnomAD v4
Xg.48688815G>ACA412873262WASn.331G>A
c.1087G>A (p.Gly363Ser)
c.932-1G>A (n.932-1G>A)
 gnomAD v4
Xg.48688815G>CCA412873259WASn.331G>C
c.1087G>C (p.Gly363Arg)
c.932-1G>C (n.932-1G>C)
 gnomAD v3 gnomAD v4
Xg.48688815G>TCA412873261WASn.331G>T
c.1087G>T (p.Gly363Cys)
c.932-1G>T (n.932-1G>T)
Xg.48688816G>ACA412873263WASn.332G>A
c.1088G>A (p.Gly363Asp)
c.932G>A (p.Gly311Asp)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688816G>CCA412873264WASn.332G>C
c.1088G>C (p.Gly363Ala)
c.932G>C (p.Gly311Ala)
Xg.48688816G=CA2428355690WASn.332G=
c.1088G= (p.Gly363=)
c.932G= (p.Gly311=)
Xg.48688816G>TCA412873265WASn.332G>T
c.1088G>T (p.Gly363Val)
c.932G>T (p.Gly311Val)
Xg.48688817C>ACA516356403WASn.333C>A
c.1089C>A (p.Gly363=)
c.933C>A (p.Gly311=)
 gnomAD v4
Xg.48688817C>GCA516356404WASn.333C>G
c.1089C>G (p.Gly363=)
c.933C>G (p.Gly311=)
Xg.48688817C>TCA516356405WASn.333C>T
c.1089C>T (p.Gly363=)
c.933C>T (p.Gly311=)
 gnomAD v4
Xg.48688818C>ACA516356406WASn.334C>A
c.1090C>A (p.Arg364=)
c.934C>A (p.Arg312=)
 gnomAD v4
Xg.48688818C=CA2428355691WASn.334C=
c.1090C= (p.Arg364=)
c.934C= (p.Arg312=)
Xg.48688818C>GCA412873266WASn.334C>G
c.1090C>G (p.Arg364Gly)
c.934C>G (p.Arg312Gly)
Xg.48688818C>TCA412873267WASn.334C>T
c.1090C>T (p.Arg364Ter)
c.934C>T (p.Arg312Ter)
 ClinVar dbSNP gnomAD v4
Xg.48688818_48688819insTGGGGCA2693644711WASn.334_335insTGGGG
c.1090_1091insTGGGG (p.Arg364LeufsTer?)
c.934_935insTGGGG (p.Arg312LeufsTer?)
 gnomAD v4
Xg.48688819G>ACA412873268WASn.335G>A
c.1091G>A (p.Arg364Gln)
c.935G>A (p.Arg312Gln)
 dbSNP gnomAD v4
Xg.48688819G>CCA412873269WASn.335G>C
c.1091G>C (p.Arg364Pro)
c.935G>C (p.Arg312Pro)
 gnomAD v3 gnomAD v4
Xg.48688819G=CA2428355692WASn.335G=
c.1091G= (p.Arg364=)
c.935G= (p.Arg312=)
Xg.48688819G>TCA412873270WASn.335G>T
c.1091G>T (p.Arg364Leu)
c.935G>T (p.Arg312Leu)
 gnomAD v4
Xg.48688819_48688825delCA2693644713WASn.335_341del
c.1091_1097del (p.Arg364ProfsTer?)
c.935_941del (p.Arg312ProfsTer?)
 gnomAD v4
Xg.48688820delCA2695233774WASn.336del
c.1092del (p.Gly366AlafsTer?)
c.936del (p.Gly314AlafsTer?)
Xg.48688820A>CCA516356408WASn.336A>C
c.1092A>C (p.Arg364=)
c.936A>C (p.Arg312=)
 ClinVar gnomAD v4
Xg.48688820A>GCA516356410WASn.336A>G
c.1092A>G (p.Arg364=)
c.936A>G (p.Arg312=)
 gnomAD v4
Xg.48688820A>TCA516356409WASn.336A>T
c.1092A>T (p.Arg364=)
c.936A>T (p.Arg312=)
 gnomAD v4
Xg.48688820_48688821delinsAGCA2428355693WASn.336_337delinsAG
c.1092_1093delinsAG (p.Arg364=)
c.936_937delinsAG (p.Arg312=)
Xg.48688821G>ACA412873271WASn.337G>A
c.1093G>A (p.Gly365Arg)
c.937G>A (p.Gly313Arg)
Xg.48688821G>CCA412873272WASn.337G>C
c.1093G>C (p.Gly365Arg)
c.937G>C (p.Gly313Arg)
Xg.48688821G>TCA412873273WASn.337G>T
c.1093G>T (p.Gly365Trp)
c.937G>T (p.Gly313Trp)
Xg.48688825dupCA2693644719WASn.341dup
c.1097dup (p.Pro368SerfsTer?)
c.941dup (p.Pro316SerfsTer?)
 gnomAD v4
Xg.48688825delCA341014WASn.341del
c.1097del (p.Gly366AlafsTer?)
c.941del (p.Gly314AlafsTer?)
 ClinVar dbSNP
Xg.48688822G>ACA412873278WASn.338G>A
c.1094G>A (p.Gly365Glu)
c.938G>A (p.Gly313Glu)
 gnomAD v4
Xg.48688822G>CCA412873277WASn.338G>C
c.1094G>C (p.Gly365Ala)
c.938G>C (p.Gly313Ala)
Xg.48688822G>TCA412873276WASn.338G>T
c.1094G>T (p.Gly365Val)
c.938G>T (p.Gly313Val)
 gnomAD v4
Xg.48688823G>ACA516356413WASn.339G>A
c.1095G>A (p.Gly365=)
c.939G>A (p.Gly313=)
 dbSNP gnomAD v4
Xg.48688823G>CCA516356414WASn.339G>C
c.1095G>C (p.Gly365=)
c.939G>C (p.Gly313=)
Xg.48688823G=CA2428355694WASn.339G=
c.1095G= (p.Gly365=)
c.939G= (p.Gly313=)
Xg.48688823G>TCA516356415WASn.339G>T
c.1095G>T (p.Gly365=)
c.939G>T (p.Gly313=)
 gnomAD v4
Xg.48688824G>ACA412873279WASn.340G>A
c.1096G>A (p.Gly366Ser)
c.940G>A (p.Gly314Ser)
 gnomAD v4
Xg.48688824G>CCA412873280WASn.340G>C
c.1096G>C (p.Gly366Arg)
c.940G>C (p.Gly314Arg)
Xg.48688824G>TCA412873281WASn.340G>T
c.1096G>T (p.Gly366Cys)
c.940G>T (p.Gly314Cys)
Xg.48688825G>ACA412873282WASn.341G>A
c.1097G>A (p.Gly366Asp)
c.941G>A (p.Gly314Asp)
 dbSNP gnomAD v4
Xg.48688825G>CCA412873283WASn.341G>C
c.1097G>C (p.Gly366Ala)
c.941G>C (p.Gly314Ala)
 gnomAD v4
Xg.48688825G=CA2428355695WASn.341G=
c.1097G= (p.Gly366=)
c.941G= (p.Gly314=)
Xg.48688825G>TCA412873284WASn.341G>T
c.1097G>T (p.Gly366Val)
c.941G>T (p.Gly314Val)
Xg.48688826C>ACA516356419WASn.342C>A
c.1098C>A (p.Gly366=)
c.942C>A (p.Gly314=)
 gnomAD v4
Xg.48688826C>GCA516356420WASn.342C>G
c.1098C>G (p.Gly366=)
c.942C>G (p.Gly314=)
 gnomAD v4
Xg.48688826C>TCA516356421WASn.342C>T
c.1098C>T (p.Gly366=)
c.942C>T (p.Gly314=)
 gnomAD v4
Xg.48688828_48688829insCCCCCCCA2693644729WASn.344_345insCCCCCC
c.1100_1101insCCCCCC (p.Pro367_Pro368insProPro)
c.944_945insCCCCCC (p.Pro315_Pro316insProPro)
 gnomAD v4
Xg.48688827C>ACA412873285WASn.343C>A
c.1099C>A (p.Pro367Thr)
c.943C>A (p.Pro315Thr)
 gnomAD v4
Xg.48688827C>GCA412873286WASn.343C>G
c.1099C>G (p.Pro367Ala)
c.943C>G (p.Pro315Ala)
Xg.48688827C>TCA412873287WASn.343C>T
c.1099C>T (p.Pro367Ser)
c.943C>T (p.Pro315Ser)
 gnomAD v4
Xg.48688829_48688831delCA2579600722WASn.345_347del
c.1101_1103del (p.Pro368del)
c.945_947del (p.Pro316del)
Xg.48688828C>ACA412873288WASn.344C>A
c.1100C>A (p.Pro367His)
c.944C>A (p.Pro315His)
 gnomAD v4
Xg.48688828C>GCA412873289WASn.344C>G
c.1100C>G (p.Pro367Arg)
c.944C>G (p.Pro315Arg)
Xg.48688828C>TCA412873290WASn.344C>T
c.1100C>T (p.Pro367Leu)
c.944C>T (p.Pro315Leu)
Xg.48688829T>ACA516356423WASn.345T>A
c.1101T>A (p.Pro367=)
c.945T>A (p.Pro315=)
 dbSNP gnomAD v3 gnomAD v4
Xg.48688829T>CCA516356424WASn.345T>C
c.1101T>C (p.Pro367=)
c.945T>C (p.Pro315=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.48688829T>GCA516356425WASn.345T>G
c.1101T>G (p.Pro367=)
c.945T>G (p.Pro315=)
 ClinVar
Xg.48688829T=CA2428355697WASn.345T=
c.1101T= (p.Pro367=)
c.945T= (p.Pro315=)
Xg.48688829_48688832delinsTCCACA2428355696WASn.345_348delinsTCCA
c.1101_1104delinsTCCA (p.Pro367=)
c.945_948delinsTCCA (p.Pro315=)
Xg.48688830C>ACA412873291WASn.346C>A
c.1102C>A (p.Pro368Thr)
c.946C>A (p.Pro316Thr)
 gnomAD v4
Xg.48688830C>GCA412873292WASn.346C>G
c.1102C>G (p.Pro368Ala)
c.946C>G (p.Pro316Ala)
Xg.48688830C>TCA412873293WASn.346C>T
c.1102C>T (p.Pro368Ser)
c.946C>T (p.Pro316Ser)
 gnomAD v4
Xg.48688838_48688840delCA641901739WASn.354_356del
c.1110_1112del (p.Pro371del)
c.954_956del (p.Pro319del)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688838_48688918delCA2693644735WASn.354_434del
c.1110_1190del (p.Pro371_Pro397del)
c.954_1034del (p.Pro319_Pro345del)
 gnomAD v4
Xg.48688838_48688927delCA2693644759WASn.354_443del
c.1110_1199del (p.Pro371_Pro400del)
c.954_1043del (p.Pro319_Pro348del)
 gnomAD v4
Xg.48688831C>ACA412873294WASn.347C>A
c.1103C>A (p.Pro368Gln)
c.947C>A (p.Pro316Gln)
 gnomAD v4
Xg.48688831C>GCA412873296WASn.347C>G
c.1103C>G (p.Pro368Arg)
c.947C>G (p.Pro316Arg)
Xg.48688831C>TCA412873295WASn.347C>T
c.1103C>T (p.Pro368Leu)
c.947C>T (p.Pro316Leu)
 gnomAD v4
Xg.48688832A=CA2428355698WASn.348A=
c.1104A= (p.Pro368=)
c.948A= (p.Pro316=)
Xg.48688832A>CCA516356428WASn.348A>C
c.1104A>C (p.Pro368=)
c.948A>C (p.Pro316=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.48688832A>GCA516356429WASn.348A>G
c.1104A>G (p.Pro368=)
c.948A>G (p.Pro316=)
Xg.48688832A>TCA516356430WASn.348A>T
c.1104A>T (p.Pro368=)
c.948A>T (p.Pro316=)
 gnomAD v4
Xg.48688833C>ACA412873297WASn.349C>A
c.1105C>A (p.Pro369Thr)
c.949C>A (p.Pro317Thr)
 gnomAD v4
Xg.48688833C=CA2428355699WASn.349C=
c.1105C= (p.Pro369=)
c.949C= (p.Pro317=)
Xg.48688833C>GCA412873298WASn.349C>G
c.1105C>G (p.Pro369Ala)
c.949C>G (p.Pro317Ala)
 dbSNP gnomAD v2
Xg.48688833C>TCA412873299WASn.349C>T
c.1105C>T (p.Pro369Ser)
c.949C>T (p.Pro317Ser)
 gnomAD v4
Xg.48688834C>ACA412873300WASn.350C>A
c.1106C>A (p.Pro369Gln)
c.950C>A (p.Pro317Gln)
 gnomAD v4
Xg.48688834C=CA2428355700WASn.350C=
c.1106C= (p.Pro369=)
c.950C= (p.Pro317=)
Xg.48688834C>GCA412873301WASn.350C>G
c.1106C>G (p.Pro369Arg)
c.950C>G (p.Pro317Arg)
Xg.48688834C>TCA412873303WASn.350C>T
c.1106C>T (p.Pro369Leu)
c.950C>T (p.Pro317Leu)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688835A=CA2428355701WASn.351A=
c.1107A= (p.Pro369=)
c.951A= (p.Pro317=)
Xg.48688835A>CCA516356434WASn.351A>C
c.1107A>C (p.Pro369=)
c.951A>C (p.Pro317=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
Xg.48688835A>GCA10404036WASn.351A>G
c.1107A>G (p.Pro369=)
c.951A>G (p.Pro317=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688835A>TCA516356435WASn.351A>T
c.1107A>T (p.Pro369=)
c.951A>T (p.Pro317=)
Xg.48688836C>ACA412873304WASn.352C>A
c.1108C>A (p.Pro370Thr)
c.952C>A (p.Pro318Thr)
 gnomAD v4
Xg.48688836C>GCA412873305WASn.352C>G
c.1108C>G (p.Pro370Ala)
c.952C>G (p.Pro318Ala)
Xg.48688836C>TCA412873306WASn.352C>T
c.1108C>T (p.Pro370Ser)
c.952C>T (p.Pro318Ser)
 gnomAD v4
Xg.48688837C>ACA412873308WASn.353C>A
c.1109C>A (p.Pro370Gln)
c.953C>A (p.Pro318Gln)
 gnomAD v4
Xg.48688837C=CA2428355702WASn.353C=
c.1109C= (p.Pro370=)
c.953C= (p.Pro318=)
Xg.48688837C>GCA412873309WASn.353C>G
c.1109C>G (p.Pro370Arg)
c.953C>G (p.Pro318Arg)
Xg.48688837C>TCA412873307WASn.353C>T
c.1109C>T (p.Pro370Leu)
c.953C>T (p.Pro318Leu)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688838delCA2695233775WASn.354del
c.1110del (p.Pro372LeufsTer?)
c.954del (p.Pro320LeufsTer?)
Xg.48688838A=CA2428355703WASn.354A=
c.1110A= (p.Pro370=)
c.954A= (p.Pro318=)
Xg.48688838A>CCA10404037WASn.354A>C
c.1110A>C (p.Pro370=)
c.954A>C (p.Pro318=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688838A>GCA516356441WASn.354A>G
c.1110A>G (p.Pro370=)
c.954A>G (p.Pro318=)
Xg.48688838A>TCA516356439WASn.354A>T
c.1110A>T (p.Pro370=)
c.954A>T (p.Pro318=)
Xg.48688839C>ACA412873310WASn.355C>A
c.1111C>A (p.Pro371Thr)
c.955C>A (p.Pro319Thr)
 dbSNP gnomAD v3 gnomAD v4
Xg.48688839C=CA2428355704WASn.355C=
c.1111C= (p.Pro371=)
c.955C= (p.Pro319=)
Xg.48688839C>GCA412873311WASn.355C>G
c.1111C>G (p.Pro371Ala)
c.955C>G (p.Pro319Ala)
 gnomAD v4
Xg.48688839C>TCA412873312WASn.355C>T
c.1111C>T (p.Pro371Ser)
c.955C>T (p.Pro319Ser)
Xg.48688843delCA2554499492WASn.359del
c.1115del (p.Pro372LeufsTer?)
c.959del (p.Pro320LeufsTer?)
 gnomAD v4
Xg.48688841_48688843delCA2693644793WASn.357_359del
c.1113_1115del (p.Pro372del)
c.957_959del (p.Pro320del)
 gnomAD v4
Xg.48688840C>ACA412873313WASn.356C>A
c.1112C>A (p.Pro371His)
c.956C>A (p.Pro319His)
 gnomAD v4
Xg.48688840C=CA2428355705WASn.356C=
c.1112C= (p.Pro371=)
c.956C= (p.Pro319=)
Xg.48688840C>GCA412873314WASn.356C>G
c.1112C>G (p.Pro371Arg)
c.956C>G (p.Pro319Arg)
Xg.48688840C>TCA412873315WASn.356C>T
c.1112C>T (p.Pro371Leu)
c.956C>T (p.Pro319Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688841C>ACA516356444WASn.357C>A
c.1113C>A (p.Pro371=)
c.957C>A (p.Pro319=)
 gnomAD v4
Xg.48688841C=CA2428355706WASn.357C=
c.1113C= (p.Pro371=)
c.957C= (p.Pro319=)
Xg.48688841C>GCA516356445WASn.357C>G
c.1113C>G (p.Pro371=)
c.957C>G (p.Pro319=)
 gnomAD v4
Xg.48688841C>TCA516356447WASn.357C>T
c.1113C>T (p.Pro371=)
c.957C>T (p.Pro319=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688842C>ACA412873316WASn.358C>A
c.1114C>A (p.Pro372Thr)
c.958C>A (p.Pro320Thr)
Xg.48688842C>GCA412873317WASn.358C>G
c.1114C>G (p.Pro372Ala)
c.958C>G (p.Pro320Ala)
Xg.48688842C>TCA412873318WASn.358C>T
c.1114C>T (p.Pro372Ser)
c.958C>T (p.Pro320Ser)
Xg.48688843C>ACA412873319WASn.359C>A
c.1115C>A (p.Pro372His)
c.959C>A (p.Pro320His)
 gnomAD v4
Xg.48688843C=CA2428355707WASn.359C=
c.1115C= (p.Pro372=)
c.959C= (p.Pro320=)
Xg.48688843C>GCA412873320WASn.359C>G
c.1115C>G (p.Pro372Arg)
c.959C>G (p.Pro320Arg)
Xg.48688843C>TCA10404038WASn.359C>T
c.1115C>T (p.Pro372Leu)
c.959C>T (p.Pro320Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48688844delCA2695233776WASn.360del
c.1116del (p.Pro373GlnfsTer?)
c.960del (p.Pro321GlnfsTer?)
Xg.48688844T>ACA516356450WASn.360T>A
c.1116T>A (p.Pro372=)
c.960T>A (p.Pro320=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.48688844T>CCA516356452WASn.360T>C
c.1116T>C (p.Pro372=)
c.960T>C (p.Pro320=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.48688844T>GCA516356454WASn.360T>G
c.1116T>G (p.Pro372=)
c.960T>G (p.Pro320=)
 gnomAD v4
Xg.48688844T=CA2428355708WASn.360T=
c.1116T= (p.Pro372=)
c.960T= (p.Pro320=)
Xg.48688845C>ACA412873323WASn.361C>A
c.1117C>A (p.Pro373Thr)
c.961C>A (p.Pro321Thr)
 gnomAD v4
Xg.48688845C=CA2428355709WASn.361C=
c.1117C= (p.Pro373=)
c.961C= (p.Pro321=)
Xg.48688845C>GCA412873322WASn.361C>G
c.1117C>G (p.Pro373Ala)
c.961C>G (p.Pro321Ala)
Xg.48688845C>TCA412873321WASn.361C>T
c.1117C>T (p.Pro373Ser)
c.961C>T (p.Pro321Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688846C>ACA412873324WASn.362C>A
c.1118C>A (p.Pro373Gln)
c.962C>A (p.Pro321Gln)
 gnomAD v4
Xg.48688846C=CA2428355710WASn.362C=
c.1118C= (p.Pro373=)
c.962C= (p.Pro321=)
Xg.48688846C>GCA412873325WASn.362C>G
c.1118C>G (p.Pro373Arg)
c.962C>G (p.Pro321Arg)
Xg.48688846C>TCA412873326WASn.362C>T
c.1118C>T (p.Pro373Leu)
c.962C>T (p.Pro321Leu)
 dbSNP gnomAD v4
Xg.48688847A=CA2428355711WASn.363A=
c.1119A= (p.Pro373=)
c.963A= (p.Pro321=)
Xg.48688847A>CCA516356231WASn.363A>C
c.1119A>C (p.Pro373=)
c.963A>C (p.Pro321=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.48688847A>GCA516356233WASn.363A>G
c.1119A>G (p.Pro373=)
c.963A>G (p.Pro321=)
 gnomAD v4
Xg.48688847A>TCA516356234WASn.363A>T
c.1119A>T (p.Pro373=)
c.963A>T (p.Pro321=)
Xg.48688847dupCA2580101062WASn.363dup
c.1119dup (p.Ala374SerfsTer?)
c.963dup (p.Ala322SerfsTer?)
 ClinVar
Xg.48688848G>ACA10404039WASn.364G>A
c.1120G>A (p.Ala374Thr)
c.964G>A (p.Ala322Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688848G>CCA412873327WASn.364G>C
c.1120G>C (p.Ala374Pro)
c.964G>C (p.Ala322Pro)
 gnomAD v4
Xg.48688848G=CA2428355712WASn.364G=
c.1120G= (p.Ala374=)
c.964G= (p.Ala322=)
Xg.48688848G>TCA412873328WASn.364G>T
c.1120G>T (p.Ala374Ser)
c.964G>T (p.Ala322Ser)
 gnomAD v4
Xg.48688849_48688855delCA2695233777WASn.365_371del
c.1121_1127del (p.Ala374AspfsTer?)
c.965_971del (p.Ala322AspfsTer?)
Xg.48688849C>ACA412873329WASn.365C>A
c.1121C>A (p.Ala374Asp)
c.965C>A (p.Ala322Asp)
 dbSNP gnomAD v4
Xg.48688849C=CA2428355713WASn.365C=
c.1121C= (p.Ala374=)
c.965C= (p.Ala322=)
Xg.48688849C>GCA412873330WASn.365C>G
c.1121C>G (p.Ala374Gly)
c.965C>G (p.Ala322Gly)
Xg.48688849C>TCA412873331WASn.365C>T
c.1121C>T (p.Ala374Val)
c.965C>T (p.Ala322Val)
Xg.48688850T>ACA516356235WASn.366T>A
c.1122T>A (p.Ala374=)
c.966T>A (p.Ala322=)
Xg.48688850T>CCA10404040WASn.366T>C
c.1122T>C (p.Ala374=)
c.966T>C (p.Ala322=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688850T>GCA516356236WASn.366T>G
c.1122T>G (p.Ala374=)
c.966T>G (p.Ala322=)
 ClinVar
Xg.48688850T=CA2428355714WASn.366T=
c.1122T= (p.Ala374=)
c.966T= (p.Ala322=)
Xg.48688851A>CCA412873332WASn.367A>C
c.1123A>C (p.Thr375Pro)
c.967A>C (p.Thr323Pro)
Xg.48688851A>GCA412873333WASn.367A>G
c.1123A>G (p.Thr375Ala)
c.967A>G (p.Thr323Ala)
 gnomAD v4
Xg.48688851A>TCA412873334WASn.367A>T
c.1123A>T (p.Thr375Ser)
c.967A>T (p.Thr323Ser)
Xg.48688853_48688857delCA2695233778WASn.369_373del
c.1125_1129del (p.Gly376PhefsTer?)
c.969_973del (p.Gly324PhefsTer?)
Xg.48688852delCA2695233779WASn.368del
c.1124del (p.Thr375MetfsTer?)
c.968del (p.Thr323MetfsTer?)
Xg.48688852C>ACA412873337WASn.368C>A
c.1124C>A (p.Thr375Asn)
c.968C>A (p.Thr323Asn)
 gnomAD v4
Xg.48688852C>GCA412873336WASn.368C>G
c.1124C>G (p.Thr375Ser)
c.968C>G (p.Thr323Ser)
Xg.48688852C>TCA412873335WASn.368C>T
c.1124C>T (p.Thr375Ile)
c.968C>T (p.Thr323Ile)
Xg.48688853delCA2579600723WASn.369del
c.1125del (p.Gly376AspfsTer?)
c.969del (p.Gly324AspfsTer?)
Xg.48688853T>ACA516356238WASn.369T>A
c.1125T>A (p.Thr375=)
c.969T>A (p.Thr323=)
 ClinVar gnomAD v4
Xg.48688853T>CCA516356240WASn.369T>C
c.1125T>C (p.Thr375=)
c.969T>C (p.Thr323=)
 gnomAD v4
Xg.48688853T>GCA516356241WASn.369T>G
c.1125T>G (p.Thr375=)
c.969T>G (p.Thr323=)
 ClinVar

Number of alleles fetched