Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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
15g.48756171T>ACA392342707CEP152c.3077A>T (p.Glu1026Val)
c.2798A>T (p.Glu933Val)
c.1118A>T (p.Glu373Val)
c.1112A>T (p.Glu371Val)
n.4042A>T
n.4028A>T
15g.48756171T>CCA392342708CEP152c.3077A>G (p.Glu1026Gly)
c.2798A>G (p.Glu933Gly)
c.1118A>G (p.Glu373Gly)
c.1112A>G (p.Glu371Gly)
n.4042A>G
n.4028A>G
15g.48756171T>GCA392342710CEP152c.3077A>C (p.Glu1026Ala)
c.2798A>C (p.Glu933Ala)
c.1118A>C (p.Glu373Ala)
c.1112A>C (p.Glu371Ala)
n.4042A>C
n.4028A>C
15g.48756172C>ACA392342714CEP152c.3076G>T (p.Glu1026Ter)
c.2797G>T (p.Glu933Ter)
c.1117G>T (p.Glu373Ter)
c.1111G>T (p.Glu371Ter)
n.4041G>T
n.4027G>T
 gnomAD v4
15g.48756172C>GCA392342713CEP152c.3076G>C (p.Glu1026Gln)
c.2797G>C (p.Glu933Gln)
c.1117G>C (p.Glu373Gln)
c.1111G>C (p.Glu371Gln)
n.4041G>C
n.4027G>C
15g.48756172C>TCA392342712CEP152c.3076G>A (p.Glu1026Lys)
c.2797G>A (p.Glu933Lys)
c.1117G>A (p.Glu373Lys)
c.1111G>A (p.Glu371Lys)
n.4041G>A
n.4027G>A
15g.48756173T>ACA392342715CEP152c.3075A>T (p.Arg1025Ser)
c.2796A>T (p.Arg932Ser)
c.1116A>T (p.Arg372Ser)
c.1110A>T (p.Arg370Ser)
n.4040A>T
n.4026A>T
 gnomAD v4
15g.48756173T>CCA490311234CEP152c.3075A>G (p.Arg1025=)
c.2796A>G (p.Arg932=)
c.1116A>G (p.Arg372=)
c.1110A>G (p.Arg370=)
n.4040A>G
n.4026A>G
15g.48756173T>GCA392342716CEP152c.3075A>C (p.Arg1025Ser)
c.2796A>C (p.Arg932Ser)
c.1116A>C (p.Arg372Ser)
c.1110A>C (p.Arg370Ser)
n.4040A>C
n.4026A>C
15g.48756174C>ACA392342717CEP152c.3074G>T (p.Arg1025Ile)
c.2795G>T (p.Arg932Ile)
c.1115G>T (p.Arg372Ile)
c.1109G>T (p.Arg370Ile)
n.4039G>T
n.4025G>T
15g.48756174C>GCA392342718CEP152c.3074G>C (p.Arg1025Thr)
c.2795G>C (p.Arg932Thr)
c.1115G>C (p.Arg372Thr)
c.1109G>C (p.Arg370Thr)
n.4039G>C
n.4025G>C
 gnomAD v4 COSMIC COSMIC
15g.48756174C>TCA392342719CEP152c.3074G>A (p.Arg1025Lys)
c.2795G>A (p.Arg932Lys)
c.1115G>A (p.Arg372Lys)
c.1109G>A (p.Arg370Lys)
n.4039G>A
n.4025G>A
15g.48756175T>ACA392342720CEP152c.3073A>T (p.Arg1025Ter)
c.2794A>T (p.Arg932Ter)
c.1114A>T (p.Arg372Ter)
c.1108A>T (p.Arg370Ter)
n.4038A>T
n.4024A>T
15g.48756175T>CCA392342721CEP152c.3073A>G (p.Arg1025Gly)
c.2794A>G (p.Arg932Gly)
c.1114A>G (p.Arg372Gly)
c.1108A>G (p.Arg370Gly)
n.4038A>G
n.4024A>G
15g.48756175T>GCA490311235CEP152c.3073A>C (p.Arg1025=)
c.2794A>C (p.Arg932=)
c.1114A>C (p.Arg372=)
c.1108A>C (p.Arg370=)
n.4038A>C
n.4024A>C
15g.48756176A>CCA490311236CEP152c.3072T>G (p.Arg1024=)
c.2793T>G (p.Arg931=)
c.1113T>G (p.Arg371=)
c.1107T>G (p.Arg369=)
n.4037T>G
n.4023T>G
15g.48756176A>GCA490311238CEP152c.3072T>C (p.Arg1024=)
c.2793T>C (p.Arg931=)
c.1113T>C (p.Arg371=)
c.1107T>C (p.Arg369=)
n.4037T>C
n.4023T>C
15g.48756176A>TCA490311237CEP152c.3072T>A (p.Arg1024=)
c.2793T>A (p.Arg931=)
c.1113T>A (p.Arg371=)
c.1107T>A (p.Arg369=)
n.4037T>A
n.4023T>A
15g.48756177C>ACA207895CEP152c.3071G>T (p.Arg1024Leu)
c.2792G>T (p.Arg931Leu)
c.1112G>T (p.Arg371Leu)
c.1106G>T (p.Arg369Leu)
n.4036G>T
n.4022G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756177C=CA2175628627CEP152c.3071G= (p.Arg1024=)
c.2792G= (p.Arg931=)
c.1112G= (p.Arg371=)
c.1106G= (p.Arg369=)
n.4036G=
n.4022G=
15g.48756177C>GCA392342722CEP152c.3071G>C (p.Arg1024Pro)
c.2792G>C (p.Arg931Pro)
c.1112G>C (p.Arg371Pro)
c.1106G>C (p.Arg369Pro)
n.4036G>C
n.4022G>C
15g.48756177C>TCA7548420CEP152c.3071G>A (p.Arg1024His)
c.2792G>A (p.Arg931His)
c.1112G>A (p.Arg371His)
c.1106G>A (p.Arg369His)
n.4036G>A
n.4022G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756178G>ACA7548421CEP152c.3070C>T (p.Arg1024Cys)
c.2791C>T (p.Arg931Cys)
c.1111C>T (p.Arg371Cys)
c.1105C>T (p.Arg369Cys)
n.4035C>T
n.4021C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
15g.48756178G>CCA392342723CEP152c.3070C>G (p.Arg1024Gly)
c.2791C>G (p.Arg931Gly)
c.1111C>G (p.Arg371Gly)
c.1105C>G (p.Arg369Gly)
n.4035C>G
n.4021C>G
 gnomAD v4
15g.48756178G=CA2175628634CEP152c.3070C= (p.Arg1024=)
c.2791C= (p.Arg931=)
c.1111C= (p.Arg371=)
c.1105C= (p.Arg369=)
n.4035C=
n.4021C=
15g.48756178G>TCA392342724CEP152c.3070C>A (p.Arg1024Ser)
c.2791C>A (p.Arg931Ser)
c.1111C>A (p.Arg371Ser)
c.1105C>A (p.Arg369Ser)
n.4035C>A
n.4021C>A
15g.48756179A>CCA392342725CEP152c.3069T>G (p.Ser1023Arg)
c.2790T>G (p.Ser930Arg)
c.1110T>G (p.Ser370Arg)
c.1104T>G (p.Ser368Arg)
n.4034T>G
n.4020T>G
15g.48756179A>GCA490311239CEP152c.3069T>C (p.Ser1023=)
c.2790T>C (p.Ser930=)
c.1110T>C (p.Ser370=)
c.1104T>C (p.Ser368=)
n.4034T>C
n.4020T>C
 COSMIC COSMIC
15g.48756179A>TCA392342726CEP152c.3069T>A (p.Ser1023Arg)
c.2790T>A (p.Ser930Arg)
c.1110T>A (p.Ser370Arg)
c.1104T>A (p.Ser368Arg)
n.4034T>A
n.4020T>A
15g.48756180C>ACA269537731CEP152c.3068G>T (p.Ser1023Ile)
c.2789G>T (p.Ser930Ile)
c.1109G>T (p.Ser370Ile)
c.1103G>T (p.Ser368Ile)
n.4033G>T
n.4019G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48756180C=CA2175628639CEP152c.3068G= (p.Ser1023=)
c.2789G= (p.Ser930=)
c.1109G= (p.Ser370=)
c.1103G= (p.Ser368=)
n.4033G=
n.4019G=
15g.48756180C>GCA392342727CEP152c.3068G>C (p.Ser1023Thr)
c.2789G>C (p.Ser930Thr)
c.1109G>C (p.Ser370Thr)
c.1103G>C (p.Ser368Thr)
n.4033G>C
n.4019G>C
15g.48756180C>TCA392342729CEP152c.3068G>A (p.Ser1023Asn)
c.2789G>A (p.Ser930Asn)
c.1109G>A (p.Ser370Asn)
c.1103G>A (p.Ser368Asn)
n.4033G>A
n.4019G>A
15g.48756181T>ACA392342731CEP152c.3067A>T (p.Ser1023Cys)
c.2788A>T (p.Ser930Cys)
c.1108A>T (p.Ser370Cys)
c.1102A>T (p.Ser368Cys)
n.4032A>T
n.4018A>T
15g.48756181T>CCA392342732CEP152c.3067A>G (p.Ser1023Gly)
c.2788A>G (p.Ser930Gly)
c.1108A>G (p.Ser370Gly)
c.1102A>G (p.Ser368Gly)
n.4032A>G
n.4018A>G
15g.48756181T>GCA392342734CEP152c.3067A>C (p.Ser1023Arg)
c.2788A>C (p.Ser930Arg)
c.1108A>C (p.Ser370Arg)
c.1102A>C (p.Ser368Arg)
n.4032A>C
n.4018A>C
15g.48756182C>ACA392342738CEP152c.3066G>T (p.Gln1022His)
c.2787G>T (p.Gln929His)
c.1107G>T (p.Gln369His)
c.1101G>T (p.Gln367His)
n.4031G>T
n.4017G>T
 gnomAD v4
15g.48756182C=CA2175628643CEP152c.3066G= (p.Gln1022=)
c.2787G= (p.Gln929=)
c.1107G= (p.Gln369=)
c.1101G= (p.Gln367=)
n.4031G=
n.4017G=
15g.48756182C>GCA392342736CEP152c.3066G>C (p.Gln1022His)
c.2787G>C (p.Gln929His)
c.1107G>C (p.Gln369His)
c.1101G>C (p.Gln367His)
n.4031G>C
n.4017G>C
 dbSNP gnomAD v3 gnomAD v4
15g.48756182C>TCA490311240CEP152c.3066G>A (p.Gln1022=)
c.2787G>A (p.Gln929=)
c.1107G>A (p.Gln369=)
c.1101G>A (p.Gln367=)
n.4031G>A
n.4017G>A
15g.48756183T>ACA392342739CEP152c.3065A>T (p.Gln1022Leu)
c.2786A>T (p.Gln929Leu)
c.1106A>T (p.Gln369Leu)
c.1100A>T (p.Gln367Leu)
n.4030A>T
n.4016A>T
 gnomAD v4 COSMIC
15g.48756183T>CCA392342741CEP152c.3065A>G (p.Gln1022Arg)
c.2786A>G (p.Gln929Arg)
c.1106A>G (p.Gln369Arg)
c.1100A>G (p.Gln367Arg)
n.4030A>G
n.4016A>G
 dbSNP gnomAD v2 gnomAD v4
15g.48756183T>GCA392342743CEP152c.3065A>C (p.Gln1022Pro)
c.2786A>C (p.Gln929Pro)
c.1106A>C (p.Gln369Pro)
c.1100A>C (p.Gln367Pro)
n.4030A>C
n.4016A>C
15g.48756183T=CA2175628648CEP152c.3065A= (p.Gln1022=)
c.2786A= (p.Gln929=)
c.1106A= (p.Gln369=)
c.1100A= (p.Gln367=)
n.4030A=
n.4016A=
15g.48756184G>ACA7548422CEP152c.3064C>T (p.Gln1022Ter)
c.2785C>T (p.Gln929Ter)
c.1105C>T (p.Gln369Ter)
c.1099C>T (p.Gln367Ter)
n.4029C>T
n.4015C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756184G>CCA392342746CEP152c.3064C>G (p.Gln1022Glu)
c.2785C>G (p.Gln929Glu)
c.1105C>G (p.Gln369Glu)
c.1099C>G (p.Gln367Glu)
n.4029C>G
n.4015C>G
15g.48756184G=CA2175628650CEP152c.3064C= (p.Gln1022=)
c.2785C= (p.Gln929=)
c.1105C= (p.Gln369=)
c.1099C= (p.Gln367=)
n.4029C=
n.4015C=
15g.48756184G>TCA392342748CEP152c.3064C>A (p.Gln1022Lys)
c.2785C>A (p.Gln929Lys)
c.1105C>A (p.Gln369Lys)
c.1099C>A (p.Gln367Lys)
n.4029C>A
n.4015C>A
 dbSNP gnomAD v4
15g.48756185G>ACA7548423CEP152c.3063C>T (p.Asp1021=)
c.2784C>T (p.Asp928=)
c.1104C>T (p.Asp368=)
c.1098C>T (p.Asp366=)
n.4028C>T
n.4014C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756185G>CCA392342752CEP152c.3063C>G (p.Asp1021Glu)
c.2784C>G (p.Asp928Glu)
c.1104C>G (p.Asp368Glu)
c.1098C>G (p.Asp366Glu)
n.4028C>G
n.4014C>G
15g.48756185G=CA2175628654CEP152c.3063C= (p.Asp1021=)
c.2784C= (p.Asp928=)
c.1104C= (p.Asp368=)
c.1098C= (p.Asp366=)
n.4028C=
n.4014C=
15g.48756185G>TCA392342751CEP152c.3063C>A (p.Asp1021Glu)
c.2784C>A (p.Asp928Glu)
c.1104C>A (p.Asp368Glu)
c.1098C>A (p.Asp366Glu)
n.4028C>A
n.4014C>A
15g.48756186T>ACA392342754CEP152c.3062A>T (p.Asp1021Val)
c.2783A>T (p.Asp928Val)
c.1103A>T (p.Asp368Val)
c.1097A>T (p.Asp366Val)
n.4027A>T
n.4013A>T
15g.48756186T>CCA392342755CEP152c.3062A>G (p.Asp1021Gly)
c.2783A>G (p.Asp928Gly)
c.1103A>G (p.Asp368Gly)
c.1097A>G (p.Asp366Gly)
n.4027A>G
n.4013A>G
15g.48756186T>GCA392342757CEP152c.3062A>C (p.Asp1021Ala)
c.2783A>C (p.Asp928Ala)
c.1103A>C (p.Asp368Ala)
c.1097A>C (p.Asp366Ala)
n.4027A>C
n.4013A>C
15g.48756187C>ACA392342759CEP152c.3061G>T (p.Asp1021Tyr)
c.2782G>T (p.Asp928Tyr)
c.1102G>T (p.Asp368Tyr)
c.1096G>T (p.Asp366Tyr)
n.4026G>T
n.4012G>T
15g.48756187C>GCA392342760CEP152c.3061G>C (p.Asp1021His)
c.2782G>C (p.Asp928His)
c.1102G>C (p.Asp368His)
c.1096G>C (p.Asp366His)
n.4026G>C
n.4012G>C
15g.48756187C>TCA392342761CEP152c.3061G>A (p.Asp1021Asn)
c.2782G>A (p.Asp928Asn)
c.1102G>A (p.Asp368Asn)
c.1096G>A (p.Asp366Asn)
n.4026G>A
n.4012G>A
15g.48756188T>ACA490311241CEP152c.3060A>T (p.Leu1020=)
c.2781A>T (p.Leu927=)
c.1101A>T (p.Leu367=)
c.1095A>T (p.Leu365=)
n.4025A>T
n.4011A>T
15g.48756188T>CCA7548424CEP152c.3060A>G (p.Leu1020=)
c.2781A>G (p.Leu927=)
c.1101A>G (p.Leu367=)
c.1095A>G (p.Leu365=)
n.4025A>G
n.4011A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756188T>GCA490311242CEP152c.3060A>C (p.Leu1020=)
c.2781A>C (p.Leu927=)
c.1101A>C (p.Leu367=)
c.1095A>C (p.Leu365=)
n.4025A>C
n.4011A>C
15g.48756188T=CA2175628658CEP152c.3060A= (p.Leu1020=)
c.2781A= (p.Leu927=)
c.1101A= (p.Leu367=)
c.1095A= (p.Leu365=)
n.4025A=
n.4011A=
15g.48756189A>CCA392342762CEP152c.3059T>G (p.Leu1020Arg)
c.2780T>G (p.Leu927Arg)
c.1100T>G (p.Leu367Arg)
c.1094T>G (p.Leu365Arg)
n.4024T>G
n.4010T>G
15g.48756189A>GCA392342763CEP152c.3059T>C (p.Leu1020Pro)
c.2780T>C (p.Leu927Pro)
c.1100T>C (p.Leu367Pro)
c.1094T>C (p.Leu365Pro)
n.4024T>C
n.4010T>C
15g.48756189A>TCA392342764CEP152c.3059T>A (p.Leu1020Gln)
c.2780T>A (p.Leu927Gln)
c.1100T>A (p.Leu367Gln)
c.1094T>A (p.Leu365Gln)
n.4024T>A
n.4010T>A
15g.48756190G>ACA7548426CEP152c.3058C>T (p.Leu1020=)
c.2779C>T (p.Leu927=)
c.1099C>T (p.Leu367=)
c.1093C>T (p.Leu365=)
n.4023C>T
n.4009C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756190G>CCA7548425CEP152c.3058C>G (p.Leu1020Val)
c.2779C>G (p.Leu927Val)
c.1099C>G (p.Leu367Val)
c.1093C>G (p.Leu365Val)
n.4023C>G
n.4009C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756190G=CA2175628661CEP152c.3058C= (p.Leu1020=)
c.2779C= (p.Leu927=)
c.1099C= (p.Leu367=)
c.1093C= (p.Leu365=)
n.4023C=
n.4009C=
15g.48756190G>TCA392342765CEP152c.3058C>A (p.Leu1020Ile)
c.2779C>A (p.Leu927Ile)
c.1099C>A (p.Leu367Ile)
c.1093C>A (p.Leu365Ile)
n.4023C>A
n.4009C>A
15g.48756191A>CCA392342766CEP152c.3057T>G (p.Cys1019Trp)
c.2778T>G (p.Cys926Trp)
c.1098T>G (p.Cys366Trp)
c.1092T>G (p.Cys364Trp)
n.4022T>G
n.4008T>G
15g.48756191A>GCA490311243CEP152c.3057T>C (p.Cys1019=)
c.2778T>C (p.Cys926=)
c.1098T>C (p.Cys366=)
c.1092T>C (p.Cys364=)
n.4022T>C
n.4008T>C
 ClinVar COSMIC COSMIC
15g.48756191A>TCA392342767CEP152c.3057T>A (p.Cys1019Ter)
c.2778T>A (p.Cys926Ter)
c.1098T>A (p.Cys366Ter)
c.1092T>A (p.Cys364Ter)
n.4022T>A
n.4008T>A
15g.48756192C>ACA7548427CEP152c.3056G>T (p.Cys1019Phe)
c.2777G>T (p.Cys926Phe)
c.1097G>T (p.Cys366Phe)
c.1091G>T (p.Cys364Phe)
n.4021G>T
n.4007G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756192C=CA2175628665CEP152c.3056G= (p.Cys1019=)
c.2777G= (p.Cys926=)
c.1097G= (p.Cys366=)
c.1091G= (p.Cys364=)
n.4021G=
n.4007G=
15g.48756192C>GCA392342769CEP152c.3056G>C (p.Cys1019Ser)
c.2777G>C (p.Cys926Ser)
c.1097G>C (p.Cys366Ser)
c.1091G>C (p.Cys364Ser)
n.4021G>C
n.4007G>C
15g.48756192C>TCA392342768CEP152c.3056G>A (p.Cys1019Tyr)
c.2777G>A (p.Cys926Tyr)
c.1097G>A (p.Cys366Tyr)
c.1091G>A (p.Cys364Tyr)
n.4021G>A
n.4007G>A
 gnomAD v4
15g.48756193A>CCA392342770CEP152c.3055T>G (p.Cys1019Gly)
c.2776T>G (p.Cys926Gly)
c.1096T>G (p.Cys366Gly)
c.1090T>G (p.Cys364Gly)
n.4020T>G
n.4006T>G
15g.48756193A>GCA392342771CEP152c.3055T>C (p.Cys1019Arg)
c.2776T>C (p.Cys926Arg)
c.1096T>C (p.Cys366Arg)
c.1090T>C (p.Cys364Arg)
n.4020T>C
n.4006T>C
 gnomAD v4
15g.48756193A>TCA392342772CEP152c.3055T>A (p.Cys1019Ser)
c.2776T>A (p.Cys926Ser)
c.1096T>A (p.Cys366Ser)
c.1090T>A (p.Cys364Ser)
n.4020T>A
n.4006T>A
15g.48756194A=CA2175628667CEP152c.3054T= (p.Thr1018=)
c.2775T= (p.Thr925=)
c.1095T= (p.Thr365=)
c.1089T= (p.Thr363=)
n.4019T=
n.4005T=
15g.48756194A>CCA490311244CEP152c.3054T>G (p.Thr1018=)
c.2775T>G (p.Thr925=)
c.1095T>G (p.Thr365=)
c.1089T>G (p.Thr363=)
n.4019T>G
n.4005T>G
15g.48756194A>GCA7548428CEP152c.3054T>C (p.Thr1018=)
c.2775T>C (p.Thr925=)
c.1095T>C (p.Thr365=)
c.1089T>C (p.Thr363=)
n.4019T>C
n.4005T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756194A>TCA490311245CEP152c.3054T>A (p.Thr1018=)
c.2775T>A (p.Thr925=)
c.1095T>A (p.Thr365=)
c.1089T>A (p.Thr363=)
n.4019T>A
n.4005T>A
 ClinVar
15g.48756195G>ACA392342774CEP152c.3053C>T (p.Thr1018Ile)
c.2774C>T (p.Thr925Ile)
c.1094C>T (p.Thr365Ile)
c.1088C>T (p.Thr363Ile)
n.4018C>T
n.4004C>T
15g.48756195G>CCA392342776CEP152c.3053C>G (p.Thr1018Ser)
c.2774C>G (p.Thr925Ser)
c.1094C>G (p.Thr365Ser)
c.1088C>G (p.Thr363Ser)
n.4018C>G
n.4004C>G
15g.48756195G>TCA392342778CEP152c.3053C>A (p.Thr1018Asn)
c.2774C>A (p.Thr925Asn)
c.1094C>A (p.Thr365Asn)
c.1088C>A (p.Thr363Asn)
n.4018C>A
n.4004C>A
 COSMIC COSMIC
15g.48756196T>ACA392342780CEP152c.3052A>T (p.Thr1018Ser)
c.2773A>T (p.Thr925Ser)
c.1093A>T (p.Thr365Ser)
c.1087A>T (p.Thr363Ser)
n.4017A>T
n.4003A>T
15g.48756196T>CCA392342781CEP152c.3052A>G (p.Thr1018Ala)
c.2773A>G (p.Thr925Ala)
c.1093A>G (p.Thr365Ala)
c.1087A>G (p.Thr363Ala)
n.4017A>G
n.4003A>G
15g.48756196T>GCA392342782CEP152c.3052A>C (p.Thr1018Pro)
c.2773A>C (p.Thr925Pro)
c.1093A>C (p.Thr365Pro)
c.1087A>C (p.Thr363Pro)
n.4017A>C
n.4003A>C
15g.48756197T>ACA392342785CEP152c.3051A>T (p.Gln1017His)
c.2772A>T (p.Gln924His)
c.1092A>T (p.Gln364His)
c.1086A>T (p.Gln362His)
n.4016A>T
n.4002A>T
15g.48756197T>CCA490311246CEP152c.3051A>G (p.Gln1017=)
c.2772A>G (p.Gln924=)
c.1092A>G (p.Gln364=)
c.1086A>G (p.Gln362=)
n.4016A>G
n.4002A>G
 gnomAD v4
15g.48756197T>GCA392342786CEP152c.3051A>C (p.Gln1017His)
c.2772A>C (p.Gln924His)
c.1092A>C (p.Gln364His)
c.1086A>C (p.Gln362His)
n.4016A>C
n.4002A>C
15g.48756198T>ACA392342792CEP152c.3050A>T (p.Gln1017Leu)
c.2771A>T (p.Gln924Leu)
c.1091A>T (p.Gln364Leu)
c.1085A>T (p.Gln362Leu)
n.4015A>T
n.4001A>T
15g.48756198T>CCA392342788CEP152c.3050A>G (p.Gln1017Arg)
c.2771A>G (p.Gln924Arg)
c.1091A>G (p.Gln364Arg)
c.1085A>G (p.Gln362Arg)
n.4015A>G
n.4001A>G
15g.48756198T>GCA392342790CEP152c.3050A>C (p.Gln1017Pro)
c.2771A>C (p.Gln924Pro)
c.1091A>C (p.Gln364Pro)
c.1085A>C (p.Gln362Pro)
n.4015A>C
n.4001A>C
15g.48756199G>ACA392342793CEP152c.3049C>T (p.Gln1017Ter)
c.2770C>T (p.Gln924Ter)
c.1090C>T (p.Gln364Ter)
c.1084C>T (p.Gln362Ter)
n.4014C>T
n.4000C>T
 gnomAD v4
15g.48756199G>CCA7548429CEP152c.3049C>G (p.Gln1017Glu)
c.2770C>G (p.Gln924Glu)
c.1090C>G (p.Gln364Glu)
c.1084C>G (p.Gln362Glu)
n.4014C>G
n.4000C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756199G=CA2175628672CEP152c.3049C= (p.Gln1017=)
c.2770C= (p.Gln924=)
c.1090C= (p.Gln364=)
c.1084C= (p.Gln362=)
n.4014C=
n.4000C=
15g.48756199G>TCA392342796CEP152c.3049C>A (p.Gln1017Lys)
c.2770C>A (p.Gln924Lys)
c.1090C>A (p.Gln364Lys)
c.1084C>A (p.Gln362Lys)
n.4014C>A
n.4000C>A
15g.48756200T>ACA392342798CEP152c.3048A>T (p.Leu1016Phe)
c.2769A>T (p.Leu923Phe)
c.1089A>T (p.Leu363Phe)
c.1083A>T (p.Leu361Phe)
n.4013A>T
n.3999A>T
15g.48756200T>CCA269537774CEP152c.3048A>G (p.Leu1016=)
c.2769A>G (p.Leu923=)
c.1089A>G (p.Leu363=)
c.1083A>G (p.Leu361=)
n.4013A>G
n.3999A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.48756200T>GCA392342800CEP152c.3048A>C (p.Leu1016Phe)
c.2769A>C (p.Leu923Phe)
c.1089A>C (p.Leu363Phe)
c.1083A>C (p.Leu361Phe)
n.4013A>C
n.3999A>C
15g.48756200T=CA2175628675CEP152c.3048A= (p.Leu1016=)
c.2769A= (p.Leu923=)
c.1089A= (p.Leu363=)
c.1083A= (p.Leu361=)
n.4013A=
n.3999A=
15g.48756201A>CCA392342802CEP152c.3047T>G (p.Leu1016Ter)
c.2768T>G (p.Leu923Ter)
c.1088T>G (p.Leu363Ter)
c.1082T>G (p.Leu361Ter)
n.4012T>G
n.3998T>G
15g.48756201A>GCA392342803CEP152c.3047T>C (p.Leu1016Ser)
c.2768T>C (p.Leu923Ser)
c.1088T>C (p.Leu363Ser)
c.1082T>C (p.Leu361Ser)
n.4012T>C
n.3998T>C
15g.48756201A>TCA392342804CEP152c.3047T>A (p.Leu1016Ter)
c.2768T>A (p.Leu923Ter)
c.1088T>A (p.Leu363Ter)
c.1082T>A (p.Leu361Ter)
n.4012T>A
n.3998T>A
15g.48756202A=CA2175628679CEP152c.3046T= (p.Leu1016=)
c.2767T= (p.Leu923=)
c.1087T= (p.Leu363=)
c.1081T= (p.Leu361=)
n.4011T=
n.3997T=
15g.48756202A>CCA392342806CEP152c.3046T>G (p.Leu1016Val)
c.2767T>G (p.Leu923Val)
c.1087T>G (p.Leu363Val)
c.1081T>G (p.Leu361Val)
n.4011T>G
n.3997T>G
 dbSNP gnomAD v2 gnomAD v4
15g.48756202A>GCA490311247CEP152c.3046T>C (p.Leu1016=)
c.2767T>C (p.Leu923=)
c.1087T>C (p.Leu363=)
c.1081T>C (p.Leu361=)
n.4011T>C
n.3997T>C
15g.48756202A>TCA392342807CEP152c.3046T>A (p.Leu1016Ile)
c.2767T>A (p.Leu923Ile)
c.1087T>A (p.Leu363Ile)
c.1081T>A (p.Leu361Ile)
n.4011T>A
n.3997T>A
15g.48756203T>ACA392342808CEP152c.3045A>T (p.Glu1015Asp)
c.2766A>T (p.Glu922Asp)
c.1086A>T (p.Glu362Asp)
c.1080A>T (p.Glu360Asp)
n.4010A>T
n.3996A>T
15g.48756203T>CCA490311248CEP152c.3045A>G (p.Glu1015=)
c.2766A>G (p.Glu922=)
c.1086A>G (p.Glu362=)
c.1080A>G (p.Glu360=)
n.4010A>G
n.3996A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.48756203T>GCA392342809CEP152c.3045A>C (p.Glu1015Asp)
c.2766A>C (p.Glu922Asp)
c.1086A>C (p.Glu362Asp)
c.1080A>C (p.Glu360Asp)
n.4010A>C
n.3996A>C
15g.48756203T=CA2175628682CEP152c.3045A= (p.Glu1015=)
c.2766A= (p.Glu922=)
c.1086A= (p.Glu362=)
c.1080A= (p.Glu360=)
n.4010A=
n.3996A=
15g.48756204T>ACA392342812CEP152c.3044A>T (p.Glu1015Val)
c.2765A>T (p.Glu922Val)
c.1085A>T (p.Glu362Val)
c.1079A>T (p.Glu360Val)
n.4009A>T
n.3995A>T
15g.48756204T>CCA392342814CEP152c.3044A>G (p.Glu1015Gly)
c.2765A>G (p.Glu922Gly)
c.1085A>G (p.Glu362Gly)
c.1079A>G (p.Glu360Gly)
n.4009A>G
n.3995A>G
15g.48756204T>GCA392342815CEP152c.3044A>C (p.Glu1015Ala)
c.2765A>C (p.Glu922Ala)
c.1085A>C (p.Glu362Ala)
c.1079A>C (p.Glu360Ala)
n.4009A>C
n.3995A>C
15g.48756205C>ACA392342816CEP152c.3043G>T (p.Glu1015Ter)
c.2764G>T (p.Glu922Ter)
c.1084G>T (p.Glu362Ter)
c.1078G>T (p.Glu360Ter)
n.4008G>T
n.3994G>T
15g.48756205C>GCA392342818CEP152c.3043G>C (p.Glu1015Gln)
c.2764G>C (p.Glu922Gln)
c.1084G>C (p.Glu362Gln)
c.1078G>C (p.Glu360Gln)
n.4008G>C
n.3994G>C
15g.48756205C>TCA392342819CEP152c.3043G>A (p.Glu1015Lys)
c.2764G>A (p.Glu922Lys)
c.1084G>A (p.Glu362Lys)
c.1078G>A (p.Glu360Lys)
n.4008G>A
n.3994G>A
15g.48756206T>ACA490311249CEP152c.3042A>T (p.Thr1014=)
c.2763A>T (p.Thr921=)
c.1083A>T (p.Thr361=)
c.1077A>T (p.Thr359=)
n.4007A>T
n.3993A>T
15g.48756206T>CCA490311251CEP152c.3042A>G (p.Thr1014=)
c.2763A>G (p.Thr921=)
c.1083A>G (p.Thr361=)
c.1077A>G (p.Thr359=)
n.4007A>G
n.3993A>G
 dbSNP gnomAD v2 gnomAD v4
15g.48756206T>GCA490311250CEP152c.3042A>C (p.Thr1014=)
c.2763A>C (p.Thr921=)
c.1083A>C (p.Thr361=)
c.1077A>C (p.Thr359=)
n.4007A>C
n.3993A>C
15g.48756206T=CA2175628683CEP152c.3042A= (p.Thr1014=)
c.2763A= (p.Thr921=)
c.1083A= (p.Thr361=)
c.1077A= (p.Thr359=)
n.4007A=
n.3993A=
15g.48756207G>ACA392342824CEP152c.3041C>T (p.Thr1014Ile)
c.2762C>T (p.Thr921Ile)
c.1082C>T (p.Thr361Ile)
c.1076C>T (p.Thr359Ile)
n.4006C>T
n.3992C>T
15g.48756207G>CCA392342821CEP152c.3041C>G (p.Thr1014Arg)
c.2762C>G (p.Thr921Arg)
c.1082C>G (p.Thr361Arg)
c.1076C>G (p.Thr359Arg)
n.4006C>G
n.3992C>G
15g.48756207G>TCA392342822CEP152c.3041C>A (p.Thr1014Lys)
c.2762C>A (p.Thr921Lys)
c.1082C>A (p.Thr361Lys)
c.1076C>A (p.Thr359Lys)
n.4006C>A
n.3992C>A
15g.48756208T>ACA392342826CEP152c.3040A>T (p.Thr1014Ser)
c.2761A>T (p.Thr921Ser)
c.1081A>T (p.Thr361Ser)
c.1075A>T (p.Thr359Ser)
n.4005A>T
n.3991A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48756208T>CCA392342828CEP152c.3040A>G (p.Thr1014Ala)
c.2761A>G (p.Thr921Ala)
c.1081A>G (p.Thr361Ala)
c.1075A>G (p.Thr359Ala)
n.4005A>G
n.3991A>G
15g.48756208T>GCA392342829CEP152c.3040A>C (p.Thr1014Pro)
c.2761A>C (p.Thr921Pro)
c.1081A>C (p.Thr361Pro)
c.1075A>C (p.Thr359Pro)
n.4005A>C
n.3991A>C
15g.48756208T=CA2175628686CEP152c.3040A= (p.Thr1014=)
c.2761A= (p.Thr921=)
c.1081A= (p.Thr361=)
c.1075A= (p.Thr359=)
n.4005A=
n.3991A=
15g.48756209C>ACA392342831CEP152c.3039G>T (p.Glu1013Asp)
c.2760G>T (p.Glu920Asp)
c.1080G>T (p.Glu360Asp)
c.1074G>T (p.Glu358Asp)
n.4004G>T
n.3990G>T
15g.48756209C>GCA392342833CEP152c.3039G>C (p.Glu1013Asp)
c.2760G>C (p.Glu920Asp)
c.1080G>C (p.Glu360Asp)
c.1074G>C (p.Glu358Asp)
n.4004G>C
n.3990G>C
15g.48756209C>TCA490311252CEP152c.3039G>A (p.Glu1013=)
c.2760G>A (p.Glu920=)
c.1080G>A (p.Glu360=)
c.1074G>A (p.Glu358=)
n.4004G>A
n.3990G>A
15g.48756210T>ACA392342834CEP152c.3038A>T (p.Glu1013Val)
c.2759A>T (p.Glu920Val)
c.1079A>T (p.Glu360Val)
c.1073A>T (p.Glu358Val)
n.4003A>T
n.3989A>T
15g.48756210T>CCA392342837CEP152c.3038A>G (p.Glu1013Gly)
c.2759A>G (p.Glu920Gly)
c.1079A>G (p.Glu360Gly)
c.1073A>G (p.Glu358Gly)
n.4003A>G
n.3989A>G
15g.48756210T>GCA392342836CEP152c.3038A>C (p.Glu1013Ala)
c.2759A>C (p.Glu920Ala)
c.1079A>C (p.Glu360Ala)
c.1073A>C (p.Glu358Ala)
n.4003A>C
n.3989A>C
15g.48756210_48756211delinsTCCA2175628689CEP152c.3037_3038delinsGA (p.Glu1013=)
c.2758_2759delinsGA (p.Glu920=)
c.1078_1079delinsGA (p.Glu360=)
c.1072_1073delinsGA (p.Glu358=)
n.4002_4003delinsGA
n.3988_3989delinsGA
15g.48756211C>ACA392342838CEP152c.3037G>T (p.Glu1013Ter)
c.2758G>T (p.Glu920Ter)
c.1078G>T (p.Glu360Ter)
c.1072G>T (p.Glu358Ter)
n.4002G>T
n.3988G>T
 dbSNP gnomAD v4
15g.48756211C=CA2175628691CEP152c.3037G= (p.Glu1013=)
c.2758G= (p.Glu920=)
c.1078G= (p.Glu360=)
c.1072G= (p.Glu358=)
n.4002G=
n.3988G=
15g.48756211C>GCA392342839CEP152c.3037G>C (p.Glu1013Gln)
c.2758G>C (p.Glu920Gln)
c.1078G>C (p.Glu360Gln)
c.1072G>C (p.Glu358Gln)
n.4002G>C
n.3988G>C
15g.48756211C>TCA392342841CEP152c.3037G>A (p.Glu1013Lys)
c.2758G>A (p.Glu920Lys)
c.1078G>A (p.Glu360Lys)
c.1072G>A (p.Glu358Lys)
n.4002G>A
n.3988G>A
15g.48756212delCA969564684CEP152c.3037del (p.Glu1013ArgfsTer8)
c.2758del (p.Glu920ArgfsTer8)
c.1078del (p.Glu360ArgfsTer8)
c.1072del (p.Glu358ArgfsTer8)
n.4002del
n.3988del
 dbSNP gnomAD v3 gnomAD v4
15g.48756212C>ACA392342842CEP152c.3036G>T (p.Lys1012Asn)
c.2757G>T (p.Lys919Asn)
c.1077G>T (p.Lys359Asn)
c.1071G>T (p.Lys357Asn)
n.4001G>T
n.3987G>T
15g.48756212C>GCA392342844CEP152c.3036G>C (p.Lys1012Asn)
c.2757G>C (p.Lys919Asn)
c.1077G>C (p.Lys359Asn)
c.1071G>C (p.Lys357Asn)
n.4001G>C
n.3987G>C
15g.48756212C>TCA490311253CEP152c.3036G>A (p.Lys1012=)
c.2757G>A (p.Lys919=)
c.1077G>A (p.Lys359=)
c.1071G>A (p.Lys357=)
n.4001G>A
n.3987G>A
15g.48756213T>ACA392342846CEP152c.3035A>T (p.Lys1012Met)
c.2756A>T (p.Lys919Met)
c.1076A>T (p.Lys359Met)
c.1070A>T (p.Lys357Met)
n.4000A>T
n.3986A>T
15g.48756213T>CCA392342848CEP152c.3035A>G (p.Lys1012Arg)
c.2756A>G (p.Lys919Arg)
c.1076A>G (p.Lys359Arg)
c.1070A>G (p.Lys357Arg)
n.4000A>G
n.3986A>G
15g.48756213T>GCA392342849CEP152c.3035A>C (p.Lys1012Thr)
c.2756A>C (p.Lys919Thr)
c.1076A>C (p.Lys359Thr)
c.1070A>C (p.Lys357Thr)
n.4000A>C
n.3986A>C
15g.48756214T>ACA392342851CEP152c.3034A>T (p.Lys1012Ter)
c.2755A>T (p.Lys919Ter)
c.1075A>T (p.Lys359Ter)
c.1069A>T (p.Lys357Ter)
n.3999A>T
n.3985A>T
15g.48756214T>CCA392342852CEP152c.3034A>G (p.Lys1012Glu)
c.2755A>G (p.Lys919Glu)
c.1075A>G (p.Lys359Glu)
c.1069A>G (p.Lys357Glu)
n.3999A>G
n.3985A>G
15g.48756214T>GCA392342854CEP152c.3034A>C (p.Lys1012Gln)
c.2755A>C (p.Lys919Gln)
c.1075A>C (p.Lys359Gln)
c.1069A>C (p.Lys357Gln)
n.3999A>C
n.3985A>C
15g.48756215C>ACA392342856CEP152c.3033G>T (p.Gln1011His)
c.2754G>T (p.Gln918His)
c.1074G>T (p.Gln358His)
c.1068G>T (p.Gln356His)
n.3998G>T
n.3984G>T
15g.48756215C=CA2175628695CEP152c.3033G= (p.Gln1011=)
c.2754G= (p.Gln918=)
c.1074G= (p.Gln358=)
c.1068G= (p.Gln356=)
n.3998G=
n.3984G=
15g.48756215C>GCA392342857CEP152c.3033G>C (p.Gln1011His)
c.2754G>C (p.Gln918His)
c.1074G>C (p.Gln358His)
c.1068G>C (p.Gln356His)
n.3998G>C
n.3984G>C
15g.48756215C>TCA490311254CEP152c.3033G>A (p.Gln1011=)
c.2754G>A (p.Gln918=)
c.1074G>A (p.Gln358=)
c.1068G>A (p.Gln356=)
n.3998G>A
n.3984G>A
 dbSNP gnomAD v3 gnomAD v4
15g.48756216T>ACA392342859CEP152c.3032A>T (p.Gln1011Leu)
c.2753A>T (p.Gln918Leu)
c.1073A>T (p.Gln358Leu)
c.1067A>T (p.Gln356Leu)
n.3997A>T
n.3983A>T
15g.48756216T>CCA392342860CEP152c.3032A>G (p.Gln1011Arg)
c.2753A>G (p.Gln918Arg)
c.1073A>G (p.Gln358Arg)
c.1067A>G (p.Gln356Arg)
n.3997A>G
n.3983A>G
15g.48756216T>GCA392342862CEP152c.3032A>C (p.Gln1011Pro)
c.2753A>C (p.Gln918Pro)
c.1073A>C (p.Gln358Pro)
c.1067A>C (p.Gln356Pro)
n.3997A>C
n.3983A>C
 gnomAD v4 COSMIC COSMIC
15g.48756216_48756219delinsTGAACA2175628697CEP152c.3029_3032delinsTTCA (p.Leu1010=)
c.2750_2753delinsTTCA (p.Leu917=)
c.1070_1073delinsTTCA (p.Leu357=)
c.1064_1067delinsTTCA (p.Leu355=)
n.3994_3997delinsTTCA
n.3980_3983delinsTTCA
15g.48756217G>ACA392342865CEP152c.3031C>T (p.Gln1011Ter)
c.2752C>T (p.Gln918Ter)
c.1072C>T (p.Gln358Ter)
c.1066C>T (p.Gln356Ter)
n.3996C>T
n.3982C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
15g.48756217G>CCA269537788CEP152c.3031C>G (p.Gln1011Glu)
c.2752C>G (p.Gln918Glu)
c.1072C>G (p.Gln358Glu)
c.1066C>G (p.Gln356Glu)
n.3996C>G
n.3982C>G
 dbSNP gnomAD v4
15g.48756217G=CA2175628702CEP152c.3031C= (p.Gln1011=)
c.2752C= (p.Gln918=)
c.1072C= (p.Gln358=)
c.1066C= (p.Gln356=)
n.3996C=
n.3982C=
15g.48756217G>TCA392342867CEP152c.3031C>A (p.Gln1011Lys)
c.2752C>A (p.Gln918Lys)
c.1072C>A (p.Gln358Lys)
c.1066C>A (p.Gln356Lys)
n.3996C>A
n.3982C>A
15g.48756221_48756223delCA7548430CEP152c.3029_3031del (p.Leu1010del)
c.2750_2752del (p.Leu917del)
c.1070_1072del (p.Leu357del)
c.1064_1066del (p.Leu355del)
n.3994_3996del
n.3980_3982del
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756218A>CCA490311255CEP152c.3030T>G (p.Leu1010=)
c.2751T>G (p.Leu917=)
c.1071T>G (p.Leu357=)
c.1065T>G (p.Leu355=)
n.3995T>G
n.3981T>G
15g.48756218A>GCA490311256CEP152c.3030T>C (p.Leu1010=)
c.2751T>C (p.Leu917=)
c.1071T>C (p.Leu357=)
c.1065T>C (p.Leu355=)
n.3995T>C
n.3981T>C
15g.48756218A>TCA490311257CEP152c.3030T>A (p.Leu1010=)
c.2751T>A (p.Leu917=)
c.1071T>A (p.Leu357=)
c.1065T>A (p.Leu355=)
n.3995T>A
n.3981T>A
15g.48756219A=CA2175628870CEP152c.3029T= (p.Leu1010=)
c.2750T= (p.Leu917=)
c.1070T= (p.Leu357=)
c.1064T= (p.Leu355=)
n.3994T=
n.3980T=
15g.48756219A>CCA392342869CEP152c.3029T>G (p.Leu1010Arg)
c.2750T>G (p.Leu917Arg)
c.1070T>G (p.Leu357Arg)
c.1064T>G (p.Leu355Arg)
n.3994T>G
n.3980T>G
15g.48756219A>GCA269537796CEP152c.3029T>C (p.Leu1010Pro)
c.2750T>C (p.Leu917Pro)
c.1070T>C (p.Leu357Pro)
c.1064T>C (p.Leu355Pro)
n.3994T>C
n.3980T>C
 dbSNP
15g.48756219A>TCA392342870CEP152c.3029T>A (p.Leu1010His)
c.2750T>A (p.Leu917His)
c.1070T>A (p.Leu357His)
c.1064T>A (p.Leu355His)
n.3994T>A
n.3980T>A
15g.48756220G>ACA392342872CEP152c.3028C>T (p.Leu1010Phe)
c.2749C>T (p.Leu917Phe)
c.1069C>T (p.Leu357Phe)
c.1063C>T (p.Leu355Phe)
n.3993C>T
n.3979C>T
 ClinVar dbSNP
15g.48756220G>CCA392342873CEP152c.3028C>G (p.Leu1010Val)
c.2749C>G (p.Leu917Val)
c.1069C>G (p.Leu357Val)
c.1063C>G (p.Leu355Val)
n.3993C>G
n.3979C>G
15g.48756220G>TCA392342875CEP152c.3028C>A (p.Leu1010Ile)
c.2749C>A (p.Leu917Ile)
c.1069C>A (p.Leu357Ile)
c.1063C>A (p.Leu355Ile)
n.3993C>A
n.3979C>A
15g.48756221A>CCA490311258CEP152c.3027T>G (p.Leu1009=)
c.2748T>G (p.Leu916=)
c.1068T>G (p.Leu356=)
c.1062T>G (p.Leu354=)
n.3992T>G
n.3978T>G
15g.48756221A>GCA490311259CEP152c.3027T>C (p.Leu1009=)
c.2748T>C (p.Leu916=)
c.1068T>C (p.Leu356=)
c.1062T>C (p.Leu354=)
n.3992T>C
n.3978T>C
15g.48756221A>TCA490311260CEP152c.3027T>A (p.Leu1009=)
c.2748T>A (p.Leu916=)
c.1068T>A (p.Leu356=)
c.1062T>A (p.Leu354=)
n.3992T>A
n.3978T>A
15g.48756222A>CCA392342879CEP152c.3026T>G (p.Leu1009Arg)
c.2747T>G (p.Leu916Arg)
c.1067T>G (p.Leu356Arg)
c.1061T>G (p.Leu354Arg)
n.3991T>G
n.3977T>G
15g.48756222A>GCA392342877CEP152c.3026T>C (p.Leu1009Pro)
c.2747T>C (p.Leu916Pro)
c.1067T>C (p.Leu356Pro)
c.1061T>C (p.Leu354Pro)
n.3991T>C
n.3977T>C
15g.48756222A>TCA392342876CEP152c.3026T>A (p.Leu1009His)
c.2747T>A (p.Leu916His)
c.1067T>A (p.Leu356His)
c.1061T>A (p.Leu354His)
n.3991T>A
n.3977T>A
15g.48756223G>ACA392342881CEP152c.3025C>T (p.Leu1009Phe)
c.2746C>T (p.Leu916Phe)
c.1066C>T (p.Leu356Phe)
c.1060C>T (p.Leu354Phe)
n.3990C>T
n.3976C>T
 dbSNP
15g.48756223G>CCA392342883CEP152c.3025C>G (p.Leu1009Val)
c.2746C>G (p.Leu916Val)
c.1066C>G (p.Leu356Val)
c.1060C>G (p.Leu354Val)
n.3990C>G
n.3976C>G
15g.48756223G=CA2175628874CEP152c.3025C= (p.Leu1009=)
c.2746C= (p.Leu916=)
c.1066C= (p.Leu356=)
c.1060C= (p.Leu354=)
n.3990C=
n.3976C=
15g.48756223G>TCA392342885CEP152c.3025C>A (p.Leu1009Ile)
c.2746C>A (p.Leu916Ile)
c.1066C>A (p.Leu356Ile)
c.1060C>A (p.Leu354Ile)
n.3990C>A
n.3976C>A
15g.48756224T>ACA490311261CEP152c.3024A>T (p.Leu1008=)
c.2745A>T (p.Leu915=)
c.1065A>T (p.Leu355=)
c.1059A>T (p.Leu353=)
n.3989A>T
n.3975A>T
15g.48756224T>CCA490311262CEP152c.3024A>G (p.Leu1008=)
c.2745A>G (p.Leu915=)
c.1065A>G (p.Leu355=)
c.1059A>G (p.Leu353=)
n.3989A>G
n.3975A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48756224T>GCA490311263CEP152c.3024A>C (p.Leu1008=)
c.2745A>C (p.Leu915=)
c.1065A>C (p.Leu355=)
c.1059A>C (p.Leu353=)
n.3989A>C
n.3975A>C
15g.48756224T=CA2175628877CEP152c.3024A= (p.Leu1008=)
c.2745A= (p.Leu915=)
c.1065A= (p.Leu355=)
c.1059A= (p.Leu353=)
n.3989A=
n.3975A=
15g.48756225A>CCA392342887CEP152c.3023T>G (p.Leu1008Arg)
c.2744T>G (p.Leu915Arg)
c.1064T>G (p.Leu355Arg)
c.1058T>G (p.Leu353Arg)
n.3988T>G
n.3974T>G
15g.48756225A>GCA392342889CEP152c.3023T>C (p.Leu1008Pro)
c.2744T>C (p.Leu915Pro)
c.1064T>C (p.Leu355Pro)
c.1058T>C (p.Leu353Pro)
n.3988T>C
n.3974T>C
15g.48756225A>TCA392342890CEP152c.3023T>A (p.Leu1008Gln)
c.2744T>A (p.Leu915Gln)
c.1064T>A (p.Leu355Gln)
c.1058T>A (p.Leu353Gln)
n.3988T>A
n.3974T>A
15g.48756226G>ACA269537805CEP152c.3022C>T (p.Leu1008=)
c.2743C>T (p.Leu915=)
c.1063C>T (p.Leu355=)
c.1057C>T (p.Leu353=)
n.3987C>T
n.3973C>T
 dbSNP gnomAD v3 gnomAD v4
15g.48756226G>CCA392342892CEP152c.3022C>G (p.Leu1008Val)
c.2743C>G (p.Leu915Val)
c.1063C>G (p.Leu355Val)
c.1057C>G (p.Leu353Val)
n.3987C>G
n.3973C>G
15g.48756226G=CA2175628881CEP152c.3022C= (p.Leu1008=)
c.2743C= (p.Leu915=)
c.1063C= (p.Leu355=)
c.1057C= (p.Leu353=)
n.3987C=
n.3973C=
15g.48756226G>TCA392342894CEP152c.3022C>A (p.Leu1008Ile)
c.2743C>A (p.Leu915Ile)
c.1063C>A (p.Leu355Ile)
c.1057C>A (p.Leu353Ile)
n.3987C>A
n.3973C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.48756227T>ACA392342896CEP152c.3021A>T (p.Glu1007Asp)
c.2742A>T (p.Glu914Asp)
c.1062A>T (p.Glu354Asp)
c.1056A>T (p.Glu352Asp)
n.3986A>T
n.3972A>T
15g.48756227T>CCA490311264CEP152c.3021A>G (p.Glu1007=)
c.2742A>G (p.Glu914=)
c.1062A>G (p.Glu354=)
c.1056A>G (p.Glu352=)
n.3986A>G
n.3972A>G
 gnomAD v4
15g.48756227T>GCA392342897CEP152c.3021A>C (p.Glu1007Asp)
c.2742A>C (p.Glu914Asp)
c.1062A>C (p.Glu354Asp)
c.1056A>C (p.Glu352Asp)
n.3986A>C
n.3972A>C
15g.48756228T>ACA392342898CEP152c.3020A>T (p.Glu1007Val)
c.2741A>T (p.Glu914Val)
c.1061A>T (p.Glu354Val)
c.1055A>T (p.Glu352Val)
n.3985A>T
n.3971A>T
15g.48756228T>CCA392342899CEP152c.3020A>G (p.Glu1007Gly)
c.2741A>G (p.Glu914Gly)
c.1061A>G (p.Glu354Gly)
c.1055A>G (p.Glu352Gly)
n.3985A>G
n.3971A>G
15g.48756228T>GCA392342900CEP152c.3020A>C (p.Glu1007Ala)
c.2741A>C (p.Glu914Ala)
c.1061A>C (p.Glu354Ala)
c.1055A>C (p.Glu352Ala)
n.3985A>C
n.3971A>C
15g.48756229C>ACA392342902CEP152c.3019G>T (p.Glu1007Ter)
c.2740G>T (p.Glu914Ter)
c.1060G>T (p.Glu354Ter)
c.1054G>T (p.Glu352Ter)
n.3984G>T
n.3970G>T
15g.48756229C>GCA392342903CEP152c.3019G>C (p.Glu1007Gln)
c.2740G>C (p.Glu914Gln)
c.1060G>C (p.Glu354Gln)
c.1054G>C (p.Glu352Gln)
n.3984G>C
n.3970G>C
15g.48756229C>TCA392342901CEP152c.3019G>A (p.Glu1007Lys)
c.2740G>A (p.Glu914Lys)
c.1060G>A (p.Glu354Lys)
c.1054G>A (p.Glu352Lys)
n.3984G>A
n.3970G>A
15g.48756230A>CCA490311265CEP152c.3018T>G (p.Thr1006=)
c.2739T>G (p.Thr913=)
c.1059T>G (p.Thr353=)
c.1053T>G (p.Thr351=)
n.3983T>G
n.3969T>G
15g.48756230A>GCA490311266CEP152c.3018T>C (p.Thr1006=)
c.2739T>C (p.Thr913=)
c.1059T>C (p.Thr353=)
c.1053T>C (p.Thr351=)
n.3983T>C
n.3969T>C
15g.48756230A>TCA490311267CEP152c.3018T>A (p.Thr1006=)
c.2739T>A (p.Thr913=)
c.1059T>A (p.Thr353=)
c.1053T>A (p.Thr351=)
n.3983T>A
n.3969T>A
15g.48756231G>ACA392342904CEP152c.3017C>T (p.Thr1006Ile)
c.2738C>T (p.Thr913Ile)
c.1058C>T (p.Thr353Ile)
c.1052C>T (p.Thr351Ile)
n.3982C>T
n.3968C>T
15g.48756231G>CCA392342905CEP152c.3017C>G (p.Thr1006Ser)
c.2738C>G (p.Thr913Ser)
c.1058C>G (p.Thr353Ser)
c.1052C>G (p.Thr351Ser)
n.3982C>G
n.3968C>G
15g.48756231G=CA2175628886CEP152c.3017C= (p.Thr1006=)
c.2738C= (p.Thr913=)
c.1058C= (p.Thr353=)
c.1052C= (p.Thr351=)
n.3982C=
n.3968C=
15g.48756231G>TCA392342906CEP152c.3017C>A (p.Thr1006Asn)
c.2738C>A (p.Thr913Asn)
c.1058C>A (p.Thr353Asn)
c.1052C>A (p.Thr351Asn)
n.3982C>A
n.3968C>A
 dbSNP
15g.48756231_48756232delinsGTCA2175628885CEP152c.3016_3017delinsAC (p.Thr1006=)
c.2737_2738delinsAC (p.Thr913=)
c.1057_1058delinsAC (p.Thr353=)
c.1051_1052delinsAC (p.Thr351=)
n.3981_3982delinsAC
n.3967_3968delinsAC
15g.48756232T>ACA392342907CEP152c.3016A>T (p.Thr1006Ser)
c.2737A>T (p.Thr913Ser)
c.1057A>T (p.Thr353Ser)
c.1051A>T (p.Thr351Ser)
n.3981A>T
n.3967A>T
15g.48756232T>CCA392342908CEP152c.3016A>G (p.Thr1006Ala)
c.2737A>G (p.Thr913Ala)
c.1057A>G (p.Thr353Ala)
c.1051A>G (p.Thr351Ala)
n.3981A>G
n.3967A>G
15g.48756232T>GCA392342909CEP152c.3016A>C (p.Thr1006Pro)
c.2737A>C (p.Thr913Pro)
c.1057A>C (p.Thr353Pro)
c.1051A>C (p.Thr351Pro)
n.3981A>C
n.3967A>C
15g.48756232_48756234delinsTTTCA2175628893CEP152c.3014_3016delinsAAA (p.Lys1005=)
c.2735_2737delinsAAA (p.Lys912=)
c.1055_1057delinsAAA (p.Lys352=)
c.1049_1051delinsAAA (p.Lys350=)
n.3979_3981delinsAAA
n.3965_3967delinsAAA
15g.48756237delCA211050CEP152c.3016del (p.Thr1006LeufsTer15)
c.2737del (p.Thr913LeufsTer15)
c.1057del (p.Thr353LeufsTer15)
c.1051del (p.Thr351LeufsTer15)
n.3981del
n.3967del
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.48756233T>ACA392342910CEP152c.3015A>T (p.Lys1005Asn)
c.2736A>T (p.Lys912Asn)
c.1056A>T (p.Lys352Asn)
c.1050A>T (p.Lys350Asn)
n.3980A>T
n.3966A>T
15g.48756233T>CCA490311276CEP152c.3015A>G (p.Lys1005=)
c.2736A>G (p.Lys912=)
c.1056A>G (p.Lys352=)
c.1050A>G (p.Lys350=)
n.3980A>G
n.3966A>G
15g.48756233T>GCA392342911CEP152c.3015A>C (p.Lys1005Asn)
c.2736A>C (p.Lys912Asn)
c.1056A>C (p.Lys352Asn)
c.1050A>C (p.Lys350Asn)
n.3980A>C
n.3966A>C
15g.48756233_48756234delinsACA211155CEP152c.3014_3015delinsT (p.Lys1005IlefsTer16)
c.2735_2736delinsT (p.Lys912IlefsTer16)
c.1055_1056delinsT (p.Lys352IlefsTer16)
c.1049_1050delinsT (p.Lys350IlefsTer16)
n.3979_3980delinsT
n.3965_3966delinsT
 ClinVar dbSNP
15g.48756234T>ACA211047CEP152c.3014A>T (p.Lys1005Ile)
c.2735A>T (p.Lys912Ile)
c.1055A>T (p.Lys352Ile)
c.1049A>T (p.Lys350Ile)
n.3979A>T
n.3965A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.48756234T>CCA392342912CEP152c.3014A>G (p.Lys1005Arg)
c.2735A>G (p.Lys912Arg)
c.1055A>G (p.Lys352Arg)
c.1049A>G (p.Lys350Arg)
n.3979A>G
n.3965A>G
15g.48756234T>GCA392342913CEP152c.3014A>C (p.Lys1005Thr)
c.2735A>C (p.Lys912Thr)
c.1055A>C (p.Lys352Thr)
c.1049A>C (p.Lys350Thr)
n.3979A>C
n.3965A>C
15g.48756234T=CA2175628901CEP152c.3014A= (p.Lys1005=)
c.2735A= (p.Lys912=)
c.1055A= (p.Lys352=)
c.1049A= (p.Lys350=)
n.3979A=
n.3965A=
15g.48756235T>ACA392342914CEP152c.3013A>T (p.Lys1005Ter)
c.2734A>T (p.Lys912Ter)
c.1054A>T (p.Lys352Ter)
c.1048A>T (p.Lys350Ter)
n.3978A>T
n.3964A>T
15g.48756235T>CCA392342916CEP152c.3013A>G (p.Lys1005Glu)
c.2734A>G (p.Lys912Glu)
c.1054A>G (p.Lys352Glu)
c.1048A>G (p.Lys350Glu)
n.3978A>G
n.3964A>G
15g.48756235T>GCA392342915CEP152c.3013A>C (p.Lys1005Gln)
c.2734A>C (p.Lys912Gln)
c.1054A>C (p.Lys352Gln)
c.1048A>C (p.Lys350Gln)
n.3978A>C
n.3964A>C
15g.48756236T>ACA392342917CEP152c.3012A>T (p.Gln1004His)
c.2733A>T (p.Gln911His)
c.1053A>T (p.Gln351His)
c.1047A>T (p.Gln349His)
n.3977A>T
n.3963A>T
15g.48756236T>CCA490311277CEP152c.3012A>G (p.Gln1004=)
c.2733A>G (p.Gln911=)
c.1053A>G (p.Gln351=)
c.1047A>G (p.Gln349=)
n.3977A>G
n.3963A>G
 gnomAD v4
15g.48756236T>GCA392342918CEP152c.3012A>C (p.Gln1004His)
c.2733A>C (p.Gln911His)
c.1053A>C (p.Gln351His)
c.1047A>C (p.Gln349His)
n.3977A>C
n.3963A>C
15g.48756236_48756238delinsTTGCA2175628905CEP152c.3010_3012delinsCAA (p.Gln1004=)
c.2731_2733delinsCAA (p.Gln911=)
c.1051_1053delinsCAA (p.Gln351=)
c.1045_1047delinsCAA (p.Gln349=)
n.3975_3977delinsCAA
n.3961_3963delinsCAA
15g.48756237T>ACA392342919CEP152c.3011A>T (p.Gln1004Leu)
c.2732A>T (p.Gln911Leu)
c.1052A>T (p.Gln351Leu)
c.1046A>T (p.Gln349Leu)
n.3976A>T
n.3962A>T
15g.48756237T>CCA392342920CEP152c.3011A>G (p.Gln1004Arg)
c.2732A>G (p.Gln911Arg)
c.1052A>G (p.Gln351Arg)
c.1046A>G (p.Gln349Arg)
n.3976A>G
n.3962A>G
15g.48756237T>GCA392342921CEP152c.3011A>C (p.Gln1004Pro)
c.2732A>C (p.Gln911Pro)
c.1052A>C (p.Gln351Pro)
c.1046A>C (p.Gln349Pro)
n.3976A>C
n.3962A>C
15g.48756238_48756239delCA2175628909CEP152c.3010_3011del (p.Gln1004LysfsTer3)
c.2731_2732del (p.Gln911LysfsTer3)
c.1051_1052del (p.Gln351LysfsTer3)
c.1045_1046del (p.Gln349LysfsTer3)
n.3975_3976del
n.3961_3962del
 dbSNP
15g.48756238G>ACA392342922CEP152c.3010C>T (p.Gln1004Ter)
c.2731C>T (p.Gln911Ter)
c.1051C>T (p.Gln351Ter)
c.1045C>T (p.Gln349Ter)
n.3975C>T
n.3961C>T
 gnomAD v4
15g.48756238G>CCA392342923CEP152c.3010C>G (p.Gln1004Glu)
c.2731C>G (p.Gln911Glu)
c.1051C>G (p.Gln351Glu)
c.1045C>G (p.Gln349Glu)
n.3975C>G
n.3961C>G
15g.48756238G=CA2175628912CEP152c.3010C= (p.Gln1004=)
c.2731C= (p.Gln911=)
c.1051C= (p.Gln351=)
c.1045C= (p.Gln349=)
n.3975C=
n.3961C=
15g.48756238G>TCA392342924CEP152c.3010C>A (p.Gln1004Lys)
c.2731C>A (p.Gln911Lys)
c.1051C>A (p.Gln351Lys)
c.1045C>A (p.Gln349Lys)
n.3975C>A
n.3961C>A
 dbSNP
15g.48756239T>ACA392342925CEP152c.3009A>T (p.Lys1003Asn)
c.2730A>T (p.Lys910Asn)
c.1050A>T (p.Lys350Asn)
c.1044A>T (p.Lys348Asn)
n.3974A>T
n.3960A>T
15g.48756239T>CCA490311278CEP152c.3009A>G (p.Lys1003=)
c.2730A>G (p.Lys910=)
c.1050A>G (p.Lys350=)
c.1044A>G (p.Lys348=)
n.3974A>G
n.3960A>G
15g.48756239T>GCA392342926CEP152c.3009A>C (p.Lys1003Asn)
c.2730A>C (p.Lys910Asn)
c.1050A>C (p.Lys350Asn)
c.1044A>C (p.Lys348Asn)
n.3974A>C
n.3960A>C
15g.48756240T>ACA392342929CEP152c.3008A>T (p.Lys1003Ile)
c.2729A>T (p.Lys910Ile)
c.1049A>T (p.Lys350Ile)
c.1043A>T (p.Lys348Ile)
n.3973A>T
n.3959A>T
15g.48756240T>CCA392342928CEP152c.3008A>G (p.Lys1003Arg)
c.2729A>G (p.Lys910Arg)
c.1049A>G (p.Lys350Arg)
c.1043A>G (p.Lys348Arg)
n.3973A>G
n.3959A>G
15g.48756240T>GCA392342927CEP152c.3008A>C (p.Lys1003Thr)
c.2729A>C (p.Lys910Thr)
c.1049A>C (p.Lys350Thr)
c.1043A>C (p.Lys348Thr)
n.3973A>C
n.3959A>C
15g.48756241T>ACA392342930CEP152c.3007A>T (p.Lys1003Ter)
c.2728A>T (p.Lys910Ter)
c.1048A>T (p.Lys350Ter)
c.1042A>T (p.Lys348Ter)
n.3972A>T
n.3958A>T
15g.48756241T>CCA392342931CEP152c.3007A>G (p.Lys1003Glu)
c.2728A>G (p.Lys910Glu)
c.1048A>G (p.Lys350Glu)
c.1042A>G (p.Lys348Glu)
n.3972A>G
n.3958A>G
15g.48756241T>GCA392342932CEP152c.3007A>C (p.Lys1003Gln)
c.2728A>C (p.Lys910Gln)
c.1048A>C (p.Lys350Gln)
c.1042A>C (p.Lys348Gln)
n.3972A>C
n.3958A>C
 gnomAD v4
15g.48756242C>ACA392342933CEP152c.3006G>T (p.Met1002Ile)
c.2727G>T (p.Met909Ile)
c.1047G>T (p.Met349Ile)
c.1041G>T (p.Met347Ile)
n.3971G>T
n.3957G>T
15g.48756242C>GCA392342934CEP152c.3006G>C (p.Met1002Ile)
c.2727G>C (p.Met909Ile)
c.1047G>C (p.Met349Ile)
c.1041G>C (p.Met347Ile)
n.3971G>C
n.3957G>C
15g.48756242C>TCA392342935CEP152c.3006G>A (p.Met1002Ile)
c.2727G>A (p.Met909Ile)
c.1047G>A (p.Met349Ile)
c.1041G>A (p.Met347Ile)
n.3971G>A
n.3957G>A

Number of alleles fetched