Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
15g.48756243A>CCA392342938CEP152c.3005T>G (p.Met1002Arg)
c.2726T>G (p.Met909Arg)
c.1046T>G (p.Met349Arg)
c.1040T>G (p.Met347Arg)
n.3970T>G
n.3956T>G
15g.48756243A>GCA392342937CEP152c.3005T>C (p.Met1002Thr)
c.2726T>C (p.Met909Thr)
c.1046T>C (p.Met349Thr)
c.1040T>C (p.Met347Thr)
n.3970T>C
n.3956T>C
15g.48756243A>TCA392342936CEP152c.3005T>A (p.Met1002Lys)
c.2726T>A (p.Met909Lys)
c.1046T>A (p.Met349Lys)
c.1040T>A (p.Met347Lys)
n.3970T>A
n.3956T>A
15g.48756244T>ACA392342939CEP152c.3004A>T (p.Met1002Leu)
c.2725A>T (p.Met909Leu)
c.1045A>T (p.Met349Leu)
c.1039A>T (p.Met347Leu)
n.3969A>T
n.3955A>T
15g.48756244T>CCA392342940CEP152c.3004A>G (p.Met1002Val)
c.2725A>G (p.Met909Val)
c.1045A>G (p.Met349Val)
c.1039A>G (p.Met347Val)
n.3969A>G
n.3955A>G
 dbSNP
15g.48756244T>GCA392342941CEP152c.3004A>C (p.Met1002Leu)
c.2725A>C (p.Met909Leu)
c.1045A>C (p.Met349Leu)
c.1039A>C (p.Met347Leu)
n.3969A>C
n.3955A>C
 dbSNP gnomAD v3 gnomAD v4
15g.48756244T=CA2175628915CEP152c.3004A= (p.Met1002=)
c.2725A= (p.Met909=)
c.1045A= (p.Met349=)
c.1039A= (p.Met347=)
n.3969A=
n.3955A=
15g.48756245A=CA2175628919CEP152c.3003T= (p.Phe1001=)
c.2724T= (p.Phe908=)
c.1044T= (p.Phe348=)
c.1038T= (p.Phe346=)
n.3968T=
n.3954T=
15g.48756245A>CCA392342942CEP152c.3003T>G (p.Phe1001Leu)
c.2724T>G (p.Phe908Leu)
c.1044T>G (p.Phe348Leu)
c.1038T>G (p.Phe346Leu)
n.3968T>G
n.3954T>G
15g.48756245A>GCA7548431CEP152c.3003T>C (p.Phe1001=)
c.2724T>C (p.Phe908=)
c.1044T>C (p.Phe348=)
c.1038T>C (p.Phe346=)
n.3968T>C
n.3954T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756245A>TCA392342943CEP152c.3003T>A (p.Phe1001Leu)
c.2724T>A (p.Phe908Leu)
c.1044T>A (p.Phe348Leu)
c.1038T>A (p.Phe346Leu)
n.3968T>A
n.3954T>A
15g.48756246A>CCA392342946CEP152c.3002T>G (p.Phe1001Cys)
c.2723T>G (p.Phe908Cys)
c.1043T>G (p.Phe348Cys)
c.1037T>G (p.Phe346Cys)
n.3967T>G
n.3953T>G
15g.48756246A>GCA392342944CEP152c.3002T>C (p.Phe1001Ser)
c.2723T>C (p.Phe908Ser)
c.1043T>C (p.Phe348Ser)
c.1037T>C (p.Phe346Ser)
n.3967T>C
n.3953T>C
15g.48756246A>TCA392342945CEP152c.3002T>A (p.Phe1001Tyr)
c.2723T>A (p.Phe908Tyr)
c.1043T>A (p.Phe348Tyr)
c.1037T>A (p.Phe346Tyr)
n.3967T>A
n.3953T>A
15g.48756247A=CA2175628923CEP152c.3001T= (p.Phe1001=)
c.2722T= (p.Phe908=)
c.1042T= (p.Phe348=)
c.1036T= (p.Phe346=)
n.3966T=
n.3952T=
15g.48756247A>CCA392342947CEP152c.3001T>G (p.Phe1001Val)
c.2722T>G (p.Phe908Val)
c.1042T>G (p.Phe348Val)
c.1036T>G (p.Phe346Val)
n.3966T>G
n.3952T>G
15g.48756247A>GCA392342948CEP152c.3001T>C (p.Phe1001Leu)
c.2722T>C (p.Phe908Leu)
c.1042T>C (p.Phe348Leu)
c.1036T>C (p.Phe346Leu)
n.3966T>C
n.3952T>C
 dbSNP gnomAD v3 gnomAD v4
15g.48756247A>TCA392342949CEP152c.3001T>A (p.Phe1001Ile)
c.2722T>A (p.Phe908Ile)
c.1042T>A (p.Phe348Ile)
c.1036T>A (p.Phe346Ile)
n.3966T>A
n.3952T>A
15g.48756248G>ACA490311279CEP152c.3000C>T (p.Asp1000=)
c.2721C>T (p.Asp907=)
c.1041C>T (p.Asp347=)
c.1035C>T (p.Asp345=)
n.3965C>T
n.3951C>T
15g.48756248G>CCA392342950CEP152c.3000C>G (p.Asp1000Glu)
c.2721C>G (p.Asp907Glu)
c.1041C>G (p.Asp347Glu)
c.1035C>G (p.Asp345Glu)
n.3965C>G
n.3951C>G
15g.48756248G=CA2175628925CEP152c.3000C= (p.Asp1000=)
c.2721C= (p.Asp907=)
c.1041C= (p.Asp347=)
c.1035C= (p.Asp345=)
n.3965C=
n.3951C=
15g.48756248G>TCA392342951CEP152c.3000C>A (p.Asp1000Glu)
c.2721C>A (p.Asp907Glu)
c.1041C>A (p.Asp347Glu)
c.1035C>A (p.Asp345Glu)
n.3965C>A
n.3951C>A
 dbSNP
15g.48756249T>ACA392342952CEP152c.2999A>T (p.Asp1000Val)
c.2720A>T (p.Asp907Val)
c.1040A>T (p.Asp347Val)
c.1034A>T (p.Asp345Val)
n.3964A>T
n.3950A>T
15g.48756249T>CCA392342953CEP152c.2999A>G (p.Asp1000Gly)
c.2720A>G (p.Asp907Gly)
c.1040A>G (p.Asp347Gly)
c.1034A>G (p.Asp345Gly)
n.3964A>G
n.3950A>G
15g.48756249T>GCA392342954CEP152c.2999A>C (p.Asp1000Ala)
c.2720A>C (p.Asp907Ala)
c.1040A>C (p.Asp347Ala)
c.1034A>C (p.Asp345Ala)
n.3964A>C
n.3950A>C
15g.48756253_48756255delCA2628343493CEP152c.2997_2999del (p.Glu999del)
c.2718_2720del (p.Glu906del)
c.1038_1040del (p.Glu346del)
c.1032_1034del (p.Glu344del)
n.3962_3964del
n.3948_3950del
 gnomAD v4
15g.48756250C>ACA392342955CEP152c.2998G>T (p.Asp1000Tyr)
c.2719G>T (p.Asp907Tyr)
c.1039G>T (p.Asp347Tyr)
c.1033G>T (p.Asp345Tyr)
n.3963G>T
n.3949G>T
15g.48756250C=CA2175628927CEP152c.2998G= (p.Asp1000=)
c.2719G= (p.Asp907=)
c.1039G= (p.Asp347=)
c.1033G= (p.Asp345=)
n.3963G=
n.3949G=
15g.48756250C>GCA392342956CEP152c.2998G>C (p.Asp1000His)
c.2719G>C (p.Asp907His)
c.1039G>C (p.Asp347His)
c.1033G>C (p.Asp345His)
n.3963G>C
n.3949G>C
15g.48756250C>TCA7548432CEP152c.2998G>A (p.Asp1000Asn)
c.2719G>A (p.Asp907Asn)
c.1039G>A (p.Asp347Asn)
c.1033G>A (p.Asp345Asn)
n.3963G>A
n.3949G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.48756251T>ACA392342957CEP152c.2997A>T (p.Glu999Asp)
c.2718A>T (p.Glu906Asp)
c.1038A>T (p.Glu346Asp)
c.1032A>T (p.Glu344Asp)
n.3962A>T
n.3948A>T
15g.48756251T>CCA490311280CEP152c.2997A>G (p.Glu999=)
c.2718A>G (p.Glu906=)
c.1038A>G (p.Glu346=)
c.1032A>G (p.Glu344=)
n.3962A>G
n.3948A>G
15g.48756251T>GCA392342958CEP152c.2997A>C (p.Glu999Asp)
c.2718A>C (p.Glu906Asp)
c.1038A>C (p.Glu346Asp)
c.1032A>C (p.Glu344Asp)
n.3962A>C
n.3948A>C
15g.48756252T>ACA392342959CEP152c.2996A>T (p.Glu999Val)
c.2717A>T (p.Glu906Val)
c.1037A>T (p.Glu346Val)
c.1031A>T (p.Glu344Val)
n.3961A>T
n.3947A>T
15g.48756252T>CCA392342961CEP152c.2996A>G (p.Glu999Gly)
c.2717A>G (p.Glu906Gly)
c.1037A>G (p.Glu346Gly)
c.1031A>G (p.Glu344Gly)
n.3961A>G
n.3947A>G
15g.48756252T>GCA392342960CEP152c.2996A>C (p.Glu999Ala)
c.2717A>C (p.Glu906Ala)
c.1037A>C (p.Glu346Ala)
c.1031A>C (p.Glu344Ala)
n.3961A>C
n.3947A>C
 dbSNP gnomAD v3 gnomAD v4
15g.48756252T=CA2175628929CEP152c.2996A= (p.Glu999=)
c.2717A= (p.Glu906=)
c.1037A= (p.Glu346=)
c.1031A= (p.Glu344=)
n.3961A=
n.3947A=
15g.48756253C>ACA392342962CEP152c.2995G>T (p.Glu999Ter)
c.2716G>T (p.Glu906Ter)
c.1036G>T (p.Glu346Ter)
c.1030G>T (p.Glu344Ter)
n.3960G>T
n.3946G>T
15g.48756253C>GCA392342963CEP152c.2995G>C (p.Glu999Gln)
c.2716G>C (p.Glu906Gln)
c.1036G>C (p.Glu346Gln)
c.1030G>C (p.Glu344Gln)
n.3960G>C
n.3946G>C
 gnomAD v4
15g.48756253C>TCA392342964CEP152c.2995G>A (p.Glu999Lys)
c.2716G>A (p.Glu906Lys)
c.1036G>A (p.Glu346Lys)
c.1030G>A (p.Glu344Lys)
n.3960G>A
n.3946G>A
15g.48756254T>ACA392342965CEP152c.2994A>T (p.Lys998Asn)
c.2715A>T (p.Lys905Asn)
c.1035A>T (p.Lys345Asn)
c.1029A>T (p.Lys343Asn)
n.3959A>T
n.3945A>T
15g.48756254T>CCA490311281CEP152c.2994A>G (p.Lys998=)
c.2715A>G (p.Lys905=)
c.1035A>G (p.Lys345=)
c.1029A>G (p.Lys343=)
n.3959A>G
n.3945A>G
 gnomAD v4
15g.48756254T>GCA392342966CEP152c.2994A>C (p.Lys998Asn)
c.2715A>C (p.Lys905Asn)
c.1035A>C (p.Lys345Asn)
c.1029A>C (p.Lys343Asn)
n.3959A>C
n.3945A>C
15g.48756255T>ACA392342969CEP152c.2993A>T (p.Lys998Ile)
c.2714A>T (p.Lys905Ile)
c.1034A>T (p.Lys345Ile)
c.1028A>T (p.Lys343Ile)
n.3958A>T
n.3944A>T
15g.48756255T>CCA392342968CEP152c.2993A>G (p.Lys998Arg)
c.2714A>G (p.Lys905Arg)
c.1034A>G (p.Lys345Arg)
c.1028A>G (p.Lys343Arg)
n.3958A>G
n.3944A>G
15g.48756255T>GCA392342967CEP152c.2993A>C (p.Lys998Thr)
c.2714A>C (p.Lys905Thr)
c.1034A>C (p.Lys345Thr)
c.1028A>C (p.Lys343Thr)
n.3958A>C
n.3944A>C
15g.48756256T>ACA392342970CEP152c.2992A>T (p.Lys998Ter)
c.2713A>T (p.Lys905Ter)
c.1033A>T (p.Lys345Ter)
c.1027A>T (p.Lys343Ter)
n.3957A>T
n.3943A>T
15g.48756256T>CCA392342971CEP152c.2992A>G (p.Lys998Glu)
c.2713A>G (p.Lys905Glu)
c.1033A>G (p.Lys345Glu)
c.1027A>G (p.Lys343Glu)
n.3957A>G
n.3943A>G
 gnomAD v4
15g.48756256T>GCA392342972CEP152c.2992A>C (p.Lys998Gln)
c.2713A>C (p.Lys905Gln)
c.1033A>C (p.Lys345Gln)
c.1027A>C (p.Lys343Gln)
n.3957A>C
n.3943A>C
15g.48756257A>CCA490311282CEP152c.2991T>G (p.Ala997=)
c.2712T>G (p.Ala904=)
c.1032T>G (p.Ala344=)
c.1026T>G (p.Ala342=)
n.3956T>G
n.3942T>G
15g.48756257A>GCA490311283CEP152c.2991T>C (p.Ala997=)
c.2712T>C (p.Ala904=)
c.1032T>C (p.Ala344=)
c.1026T>C (p.Ala342=)
n.3956T>C
n.3942T>C
 gnomAD v4
15g.48756257A>TCA490311284CEP152c.2991T>A (p.Ala997=)
c.2712T>A (p.Ala904=)
c.1032T>A (p.Ala344=)
c.1026T>A (p.Ala342=)
n.3956T>A
n.3942T>A
15g.48756258G>ACA392342973CEP152c.2990C>T (p.Ala997Val)
c.2711C>T (p.Ala904Val)
c.1031C>T (p.Ala344Val)
c.1025C>T (p.Ala342Val)
n.3955C>T
n.3941C>T
15g.48756258G>CCA392342974CEP152c.2990C>G (p.Ala997Gly)
c.2711C>G (p.Ala904Gly)
c.1031C>G (p.Ala344Gly)
c.1025C>G (p.Ala342Gly)
n.3955C>G
n.3941C>G
 dbSNP gnomAD v2
15g.48756258G=CA2175628931CEP152c.2990C= (p.Ala997=)
c.2711C= (p.Ala904=)
c.1031C= (p.Ala344=)
c.1025C= (p.Ala342=)
n.3955C=
n.3941C=
15g.48756258G>TCA392342975CEP152c.2990C>A (p.Ala997Asp)
c.2711C>A (p.Ala904Asp)
c.1031C>A (p.Ala344Asp)
c.1025C>A (p.Ala342Asp)
n.3955C>A
n.3941C>A
15g.48756259C>ACA392342976CEP152c.2989G>T (p.Ala997Ser)
c.2710G>T (p.Ala904Ser)
c.1030G>T (p.Ala344Ser)
c.1024G>T (p.Ala342Ser)
n.3954G>T
n.3940G>T
15g.48756259C>GCA392342978CEP152c.2989G>C (p.Ala997Pro)
c.2710G>C (p.Ala904Pro)
c.1030G>C (p.Ala344Pro)
c.1024G>C (p.Ala342Pro)
n.3954G>C
n.3940G>C
15g.48756259C>TCA392342977CEP152c.2989G>A (p.Ala997Thr)
c.2710G>A (p.Ala904Thr)
c.1030G>A (p.Ala344Thr)
c.1024G>A (p.Ala342Thr)
n.3954G>A
n.3940G>A
 gnomAD v4
15g.48756260T>ACA490311285CEP152c.2988A>T (p.Ala996=)
c.2709A>T (p.Ala903=)
c.1029A>T (p.Ala343=)
c.1023A>T (p.Ala341=)
n.3953A>T
n.3939A>T
15g.48756260T>CCA490311286CEP152c.2988A>G (p.Ala996=)
c.2709A>G (p.Ala903=)
c.1029A>G (p.Ala343=)
c.1023A>G (p.Ala341=)
n.3953A>G
n.3939A>G
 dbSNP
15g.48756260T>GCA490311287CEP152c.2988A>C (p.Ala996=)
c.2709A>C (p.Ala903=)
c.1029A>C (p.Ala343=)
c.1023A>C (p.Ala341=)
n.3953A>C
n.3939A>C
15g.48756260T=CA2175628933CEP152c.2988A= (p.Ala996=)
c.2709A= (p.Ala903=)
c.1029A= (p.Ala343=)
c.1023A= (p.Ala341=)
n.3953A=
n.3939A=
15g.48756261G>ACA392342979CEP152c.2987C>T (p.Ala996Val)
c.2708C>T (p.Ala903Val)
c.1028C>T (p.Ala343Val)
c.1022C>T (p.Ala341Val)
n.3952C>T
n.3938C>T
 gnomAD v4
15g.48756261G>CCA392342980CEP152c.2987C>G (p.Ala996Gly)
c.2708C>G (p.Ala903Gly)
c.1028C>G (p.Ala343Gly)
c.1022C>G (p.Ala341Gly)
n.3952C>G
n.3938C>G
15g.48756261G>TCA392342981CEP152c.2987C>A (p.Ala996Glu)
c.2708C>A (p.Ala903Glu)
c.1028C>A (p.Ala343Glu)
c.1022C>A (p.Ala341Glu)
n.3952C>A
n.3938C>A
15g.48756262C>ACA392342982CEP152c.2986G>T (p.Ala996Ser)
c.2707G>T (p.Ala903Ser)
c.1027G>T (p.Ala343Ser)
c.1021G>T (p.Ala341Ser)
n.3951G>T
n.3937G>T
15g.48756262C=CA2175628937CEP152c.2986G= (p.Ala996=)
c.2707G= (p.Ala903=)
c.1027G= (p.Ala343=)
c.1021G= (p.Ala341=)
n.3951G=
n.3937G=
15g.48756262C>GCA392342983CEP152c.2986G>C (p.Ala996Pro)
c.2707G>C (p.Ala903Pro)
c.1027G>C (p.Ala343Pro)
c.1021G>C (p.Ala341Pro)
n.3951G>C
n.3937G>C
15g.48756262C>TCA392342984CEP152c.2986G>A (p.Ala996Thr)
c.2707G>A (p.Ala903Thr)
c.1027G>A (p.Ala343Thr)
c.1021G>A (p.Ala341Thr)
n.3951G>A
n.3937G>A
 dbSNP gnomAD v2 gnomAD v4
15g.48756263delCA2628343494CEP152c.2986del (p.Ala996GlnfsTer7)
c.2707del (p.Ala903GlnfsTer7)
c.1027del (p.Ala343GlnfsTer7)
c.1021del (p.Ala341GlnfsTer7)
n.3951del
n.3937del
 gnomAD v4
15g.48756263C>ACA171719CEP152c.2985G>T (p.Ala995=)
c.2706G>T (p.Ala902=)
c.1026G>T (p.Ala342=)
c.1020G>T (p.Ala340=)
n.3950G>T
n.3936G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756263C=CA2175628943CEP152c.2985G= (p.Ala995=)
c.2706G= (p.Ala902=)
c.1026G= (p.Ala342=)
c.1020G= (p.Ala340=)
n.3950G=
n.3936G=
15g.48756263C>GCA490311288CEP152c.2985G>C (p.Ala995=)
c.2706G>C (p.Ala902=)
c.1026G>C (p.Ala342=)
c.1020G>C (p.Ala340=)
n.3950G>C
n.3936G>C
15g.48756263C>TCA7548433CEP152c.2985G>A (p.Ala995=)
c.2706G>A (p.Ala902=)
c.1026G>A (p.Ala342=)
c.1020G>A (p.Ala340=)
n.3950G>A
n.3936G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756264G>ACA7548434CEP152c.2984C>T (p.Ala995Val)
c.2705C>T (p.Ala902Val)
c.1025C>T (p.Ala342Val)
c.1019C>T (p.Ala340Val)
n.3949C>T
n.3935C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.48756264G>CCA392342985CEP152c.2984C>G (p.Ala995Gly)
c.2705C>G (p.Ala902Gly)
c.1025C>G (p.Ala342Gly)
c.1019C>G (p.Ala340Gly)
n.3949C>G
n.3935C>G
 gnomAD v4
15g.48756264G=CA2175628952CEP152c.2984C= (p.Ala995=)
c.2705C= (p.Ala902=)
c.1025C= (p.Ala342=)
c.1019C= (p.Ala340=)
n.3949C=
n.3935C=
15g.48756264G>TCA392342986CEP152c.2984C>A (p.Ala995Glu)
c.2705C>A (p.Ala902Glu)
c.1025C>A (p.Ala342Glu)
c.1019C>A (p.Ala340Glu)
n.3949C>A
n.3935C>A
 dbSNP gnomAD v3 gnomAD v4
15g.48756265C>ACA392342987CEP152c.2983G>T (p.Ala995Ser)
c.2704G>T (p.Ala902Ser)
c.1024G>T (p.Ala342Ser)
c.1018G>T (p.Ala340Ser)
n.3948G>T
n.3934G>T
15g.48756265C=CA2175628958CEP152c.2983G= (p.Ala995=)
c.2704G= (p.Ala902=)
c.1024G= (p.Ala342=)
c.1018G= (p.Ala340=)
n.3948G=
n.3934G=
15g.48756265C>GCA392342989CEP152c.2983G>C (p.Ala995Pro)
c.2704G>C (p.Ala902Pro)
c.1024G>C (p.Ala342Pro)
c.1018G>C (p.Ala340Pro)
n.3948G>C
n.3934G>C
15g.48756265C>TCA392342988CEP152c.2983G>A (p.Ala995Thr)
c.2704G>A (p.Ala902Thr)
c.1024G>A (p.Ala342Thr)
c.1018G>A (p.Ala340Thr)
n.3948G>A
n.3934G>A
 dbSNP
15g.48756265dupCA7548435CEP152c.2983dup (p.Ala995GlyfsTer4)
c.2704dup (p.Ala902GlyfsTer4)
c.1024dup (p.Ala342GlyfsTer4)
c.1018dup (p.Ala340GlyfsTer4)
n.3948dup
n.3934dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756266A>CCA490311289CEP152c.2982T>G (p.Leu994=)
c.2703T>G (p.Leu901=)
c.1023T>G (p.Leu341=)
c.1017T>G (p.Leu339=)
n.3947T>G
n.3933T>G
15g.48756266A>GCA490311290CEP152c.2982T>C (p.Leu994=)
c.2703T>C (p.Leu901=)
c.1023T>C (p.Leu341=)
c.1017T>C (p.Leu339=)
n.3947T>C
n.3933T>C
15g.48756266A>TCA490311291CEP152c.2982T>A (p.Leu994=)
c.2703T>A (p.Leu901=)
c.1023T>A (p.Leu341=)
c.1017T>A (p.Leu339=)
n.3947T>A
n.3933T>A
15g.48756267A=CA2175628962CEP152c.2981T= (p.Leu994=)
c.2702T= (p.Leu901=)
c.1022T= (p.Leu341=)
c.1016T= (p.Leu339=)
n.3946T=
n.3932T=
15g.48756267A>CCA392342990CEP152c.2981T>G (p.Leu994Arg)
c.2702T>G (p.Leu901Arg)
c.1022T>G (p.Leu341Arg)
c.1016T>G (p.Leu339Arg)
n.3946T>G
n.3932T>G
15g.48756267A>GCA7548436CEP152c.2981T>C (p.Leu994Pro)
c.2702T>C (p.Leu901Pro)
c.1022T>C (p.Leu341Pro)
c.1016T>C (p.Leu339Pro)
n.3946T>C
n.3932T>C
 dbSNP ExAC
15g.48756267A>TCA392342991CEP152c.2981T>A (p.Leu994His)
c.2702T>A (p.Leu901His)
c.1022T>A (p.Leu341His)
c.1016T>A (p.Leu339His)
n.3946T>A
n.3932T>A
15g.48756268G>ACA392342992CEP152c.2980C>T (p.Leu994Phe)
c.2701C>T (p.Leu901Phe)
c.1021C>T (p.Leu341Phe)
c.1015C>T (p.Leu339Phe)
n.3945C>T
n.3931C>T
 dbSNP
15g.48756268G>CCA392342993CEP152c.2980C>G (p.Leu994Val)
c.2701C>G (p.Leu901Val)
c.1021C>G (p.Leu341Val)
c.1015C>G (p.Leu339Val)
n.3945C>G
n.3931C>G
15g.48756268G=CA2175628965CEP152c.2980C= (p.Leu994=)
c.2701C= (p.Leu901=)
c.1021C= (p.Leu341=)
c.1015C= (p.Leu339=)
n.3945C=
n.3931C=
15g.48756268G>TCA392342994CEP152c.2980C>A (p.Leu994Ile)
c.2701C>A (p.Leu901Ile)
c.1021C>A (p.Leu341Ile)
c.1015C>A (p.Leu339Ile)
n.3945C>A
n.3931C>A
15g.48756269C>ACA490311292CEP152c.2979G>T (p.Val993=)
c.2700G>T (p.Val900=)
c.1020G>T (p.Val340=)
c.1014G>T (p.Val338=)
n.3944G>T
n.3930G>T
15g.48756269C>GCA490311293CEP152c.2979G>C (p.Val993=)
c.2700G>C (p.Val900=)
c.1020G>C (p.Val340=)
c.1014G>C (p.Val338=)
n.3944G>C
n.3930G>C
15g.48756269C>TCA490311294CEP152c.2979G>A (p.Val993=)
c.2700G>A (p.Val900=)
c.1020G>A (p.Val340=)
c.1014G>A (p.Val338=)
n.3944G>A
n.3930G>A
15g.48756270A>CCA392342995CEP152c.2978T>G (p.Val993Gly)
c.2699T>G (p.Val900Gly)
c.1019T>G (p.Val340Gly)
c.1013T>G (p.Val338Gly)
n.3943T>G
n.3929T>G
15g.48756270A>GCA392342996CEP152c.2978T>C (p.Val993Ala)
c.2699T>C (p.Val900Ala)
c.1019T>C (p.Val340Ala)
c.1013T>C (p.Val338Ala)
n.3943T>C
n.3929T>C
15g.48756270A>TCA392342997CEP152c.2978T>A (p.Val993Glu)
c.2699T>A (p.Val900Glu)
c.1019T>A (p.Val340Glu)
c.1013T>A (p.Val338Glu)
n.3943T>A
n.3929T>A
15g.48756271C>ACA392342998CEP152c.2977G>T (p.Val993Leu)
c.2698G>T (p.Val900Leu)
c.1018G>T (p.Val340Leu)
c.1012G>T (p.Val338Leu)
n.3942G>T
n.3928G>T
15g.48756271C=CA2175628969CEP152c.2977G= (p.Val993=)
c.2698G= (p.Val900=)
c.1018G= (p.Val340=)
c.1012G= (p.Val338=)
n.3942G=
n.3928G=
15g.48756271C>GCA392342999CEP152c.2977G>C (p.Val993Leu)
c.2698G>C (p.Val900Leu)
c.1018G>C (p.Val340Leu)
c.1012G>C (p.Val338Leu)
n.3942G>C
n.3928G>C
15g.48756271C>TCA392343000CEP152c.2977G>A (p.Val993Met)
c.2698G>A (p.Val900Met)
c.1018G>A (p.Val340Met)
c.1012G>A (p.Val338Met)
n.3942G>A
n.3928G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.48756272C>ACA392343001CEP152c.2976G>T (p.Glu992Asp)
c.2697G>T (p.Glu899Asp)
c.1017G>T (p.Glu339Asp)
c.1011G>T (p.Glu337Asp)
n.3941G>T
n.3927G>T
15g.48756272C>GCA392343002CEP152c.2976G>C (p.Glu992Asp)
c.2697G>C (p.Glu899Asp)
c.1017G>C (p.Glu339Asp)
c.1011G>C (p.Glu337Asp)
n.3941G>C
n.3927G>C
15g.48756272C>TCA490311296CEP152c.2976G>A (p.Glu992=)
c.2697G>A (p.Glu899=)
c.1017G>A (p.Glu339=)
c.1011G>A (p.Glu337=)
n.3941G>A
n.3927G>A
 gnomAD v4
15g.48756272_48756273insCCCCACCCAAACACACCCAACCA2804077935CEP152c.2976_2977insTTGGGTGTGTTTGGGTGGGGG (p.Glu992_Val993insLeuGlyValPheGlyTrpGly)
c.2697_2698insTTGGGTGTGTTTGGGTGGGGG (p.Glu899_Val900insLeuGlyValPheGlyTrpGly)
c.1017_1018insTTGGGTGTGTTTGGGTGGGGG (p.Glu339_Val340insLeuGlyValPheGlyTrpGly)
c.1011_1012insTTGGGTGTGTTTGGGTGGGGG (p.Glu337_Val338insLeuGlyValPheGlyTrpGly)
n.3941_3942insTTGGGTGTGTTTGGGTGGGGG
n.3927_3928insTTGGGTGTGTTTGGGTGGGGG
15g.48756273T>ACA392343005CEP152c.2975A>T (p.Glu992Val)
c.2696A>T (p.Glu899Val)
c.1016A>T (p.Glu339Val)
c.1010A>T (p.Glu337Val)
n.3940A>T
n.3926A>T
15g.48756273T>CCA392343004CEP152c.2975A>G (p.Glu992Gly)
c.2696A>G (p.Glu899Gly)
c.1016A>G (p.Glu339Gly)
c.1010A>G (p.Glu337Gly)
n.3940A>G
n.3926A>G
15g.48756273T>GCA392343003CEP152c.2975A>C (p.Glu992Ala)
c.2696A>C (p.Glu899Ala)
c.1016A>C (p.Glu339Ala)
c.1010A>C (p.Glu337Ala)
n.3940A>C
n.3926A>C
15g.48756274C>ACA392343006CEP152c.2974G>T (p.Glu992Ter)
c.2695G>T (p.Glu899Ter)
c.1015G>T (p.Glu339Ter)
c.1009G>T (p.Glu337Ter)
n.3939G>T
n.3925G>T
15g.48756274C>GCA392343007CEP152c.2974G>C (p.Glu992Gln)
c.2695G>C (p.Glu899Gln)
c.1015G>C (p.Glu339Gln)
c.1009G>C (p.Glu337Gln)
n.3939G>C
n.3925G>C
15g.48756274C>TCA392343008CEP152c.2974G>A (p.Glu992Lys)
c.2695G>A (p.Glu899Lys)
c.1015G>A (p.Glu339Lys)
c.1009G>A (p.Glu337Lys)
n.3939G>A
n.3925G>A
15g.48756275A=CA2175628972CEP152c.2973T= (p.Asn991=)
c.2694T= (p.Asn898=)
c.1014T= (p.Asn338=)
c.1008T= (p.Asn336=)
n.3938T=
n.3924T=
15g.48756275A>CCA392343009CEP152c.2973T>G (p.Asn991Lys)
c.2694T>G (p.Asn898Lys)
c.1014T>G (p.Asn338Lys)
c.1008T>G (p.Asn336Lys)
n.3938T>G
n.3924T>G
15g.48756275A>GCA490311298CEP152c.2973T>C (p.Asn991=)
c.2694T>C (p.Asn898=)
c.1014T>C (p.Asn338=)
c.1008T>C (p.Asn336=)
n.3938T>C
n.3924T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.48756275A>TCA392343010CEP152c.2973T>A (p.Asn991Lys)
c.2694T>A (p.Asn898Lys)
c.1014T>A (p.Asn338Lys)
c.1008T>A (p.Asn336Lys)
n.3938T>A
n.3924T>A
15g.48756276T>ACA392343011CEP152c.2972A>T (p.Asn991Ile)
c.2693A>T (p.Asn898Ile)
c.1013A>T (p.Asn338Ile)
c.1007A>T (p.Asn336Ile)
n.3937A>T
n.3923A>T
 dbSNP gnomAD v2 gnomAD v4
15g.48756276T>CCA392343012CEP152c.2972A>G (p.Asn991Ser)
c.2693A>G (p.Asn898Ser)
c.1013A>G (p.Asn338Ser)
c.1007A>G (p.Asn336Ser)
n.3937A>G
n.3923A>G
 gnomAD v4
15g.48756276T>GCA392343013CEP152c.2972A>C (p.Asn991Thr)
c.2693A>C (p.Asn898Thr)
c.1013A>C (p.Asn338Thr)
c.1007A>C (p.Asn336Thr)
n.3937A>C
n.3923A>C
15g.48756276T=CA2175628974CEP152c.2972A= (p.Asn991=)
c.2693A= (p.Asn898=)
c.1013A= (p.Asn338=)
c.1007A= (p.Asn336=)
n.3937A=
n.3923A=
15g.48756277delCA2628343495CEP152c.2972del (p.Asn991MetfsTer12)
c.2693del (p.Asn898MetfsTer12)
c.1013del (p.Asn338MetfsTer12)
c.1007del (p.Asn336MetfsTer12)
n.3937del
n.3923del
 gnomAD v4
15g.48756277T>ACA392343014CEP152c.2971A>T (p.Asn991Tyr)
c.2692A>T (p.Asn898Tyr)
c.1012A>T (p.Asn338Tyr)
c.1006A>T (p.Asn336Tyr)
n.3936A>T
n.3922A>T
 dbSNP
15g.48756277T>CCA392343015CEP152c.2971A>G (p.Asn991Asp)
c.2692A>G (p.Asn898Asp)
c.1012A>G (p.Asn338Asp)
c.1006A>G (p.Asn336Asp)
n.3936A>G
n.3922A>G
15g.48756277T>GCA392343016CEP152c.2971A>C (p.Asn991His)
c.2692A>C (p.Asn898His)
c.1012A>C (p.Asn338His)
c.1006A>C (p.Asn336His)
n.3936A>C
n.3922A>C
15g.48756277T=CA2175628978CEP152c.2971A= (p.Asn991=)
c.2692A= (p.Asn898=)
c.1012A= (p.Asn338=)
c.1006A= (p.Asn336=)
n.3936A=
n.3922A=
15g.48756278A>CCA392343017CEP152c.2970T>G (p.Ile990Met)
c.2691T>G (p.Ile897Met)
c.1011T>G (p.Ile337Met)
c.1005T>G (p.Ile335Met)
n.3935T>G
n.3921T>G
15g.48756278A>GCA490311299CEP152c.2970T>C (p.Ile990=)
c.2691T>C (p.Ile897=)
c.1011T>C (p.Ile337=)
c.1005T>C (p.Ile335=)
n.3935T>C
n.3921T>C
15g.48756278A>TCA490311300CEP152c.2970T>A (p.Ile990=)
c.2691T>A (p.Ile897=)
c.1011T>A (p.Ile337=)
c.1005T>A (p.Ile335=)
n.3935T>A
n.3921T>A
15g.48756279A>CCA392343020CEP152c.2969T>G (p.Ile990Ser)
c.2690T>G (p.Ile897Ser)
c.1010T>G (p.Ile337Ser)
c.1004T>G (p.Ile335Ser)
n.3934T>G
n.3920T>G
15g.48756279A>GCA392343019CEP152c.2969T>C (p.Ile990Thr)
c.2690T>C (p.Ile897Thr)
c.1010T>C (p.Ile337Thr)
c.1004T>C (p.Ile335Thr)
n.3934T>C
n.3920T>C
 gnomAD v4
15g.48756279A>TCA392343018CEP152c.2969T>A (p.Ile990Asn)
c.2690T>A (p.Ile897Asn)
c.1010T>A (p.Ile337Asn)
c.1004T>A (p.Ile335Asn)
n.3934T>A
n.3920T>A
15g.48756280T>ACA392343021CEP152c.2968A>T (p.Ile990Phe)
c.2689A>T (p.Ile897Phe)
c.1009A>T (p.Ile337Phe)
c.1003A>T (p.Ile335Phe)
n.3933A>T
n.3919A>T
15g.48756280T>CCA269537915CEP152c.2968A>G (p.Ile990Val)
c.2689A>G (p.Ile897Val)
c.1009A>G (p.Ile337Val)
c.1003A>G (p.Ile335Val)
n.3933A>G
n.3919A>G
 dbSNP
15g.48756280T>GCA392343022CEP152c.2968A>C (p.Ile990Leu)
c.2689A>C (p.Ile897Leu)
c.1009A>C (p.Ile337Leu)
c.1003A>C (p.Ile335Leu)
n.3933A>C
n.3919A>C
15g.48756280T=CA2175628985CEP152c.2968A= (p.Ile990=)
c.2689A= (p.Ile897=)
c.1009A= (p.Ile337=)
c.1003A= (p.Ile335=)
n.3933A=
n.3919A=
15g.48756281T>ACA392343023CEP152c.2967A>T (p.Lys989Asn)
c.2688A>T (p.Lys896Asn)
c.1008A>T (p.Lys336Asn)
c.1002A>T (p.Lys334Asn)
n.3932A>T
n.3918A>T
15g.48756281T>CCA7548437CEP152c.2967A>G (p.Lys989=)
c.2688A>G (p.Lys896=)
c.1008A>G (p.Lys336=)
c.1002A>G (p.Lys334=)
n.3932A>G
n.3918A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.48756281T>GCA392343024CEP152c.2967A>C (p.Lys989Asn)
c.2688A>C (p.Lys896Asn)
c.1008A>C (p.Lys336Asn)
c.1002A>C (p.Lys334Asn)
n.3932A>C
n.3918A>C
15g.48756281T=CA2175628989CEP152c.2967A= (p.Lys989=)
c.2688A= (p.Lys896=)
c.1008A= (p.Lys336=)
c.1002A= (p.Lys334=)
n.3932A=
n.3918A=

Number of alleles fetched