| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.38351373_38351385del | CA617561334 | SPRED1 | c.1044_1056del (p.Gly350MetfsTer?) c.1080_1092del (p.Gly362MetfsTer?) c.822_834del (p.Gly276MetfsTer?) c.981_993del (p.Gly329MetfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.38351373_38351386delinsTAGGGGAAAATGTC | CA2170812695 | SPRED1 | c.1044_1057delinsTAGGGGAAAATGTC (p.Val348=) c.1080_1093delinsTAGGGGAAAATGTC (p.Val360=) c.822_835delinsTAGGGGAAAATGTC (p.Val274=) c.981_994delinsTAGGGGAAAATGTC (p.Val327=) | |
| 15 | g.38351377_38351389del | CA16042867 | SPRED1 | c.1048_1060del (p.Gly350MetfsTer?) c.1084_1096del (p.Gly362MetfsTer?) c.826_838del (p.Gly276MetfsTer?) c.985_997del (p.Gly329MetfsTer?) | ClinVar dbSNP |
| 15 | g.38351377_38351378del | CA658761251 | SPRED1 | c.1048_1049del (p.Gly350LysfsTer10) c.1084_1085del (p.Gly362LysfsTer10) c.826_827del (p.Gly276LysfsTer10) c.985_986del (p.Gly329LysfsTer10) | |
| 15 | g.38351378G>A | CA391933918 | SPRED1 | c.1049G>A (p.Gly350Glu) c.1085G>A (p.Gly362Glu) c.827G>A (p.Gly276Glu) c.986G>A (p.Gly329Glu) | |
| 15 | g.38351378G>C | CA391933919 | SPRED1 | c.1049G>C (p.Gly350Ala) c.1085G>C (p.Gly362Ala) c.827G>C (p.Gly276Ala) c.986G>C (p.Gly329Ala) | |
| 15 | g.38351378G>T | CA391933921 | SPRED1 | c.1049G>T (p.Gly350Val) c.1085G>T (p.Gly362Val) c.827G>T (p.Gly276Val) c.986G>T (p.Gly329Val) | |
| 15 | g.38351378_38351379delinsGA | CA2170812700 | SPRED1 | c.1049_1050delinsGA (p.Gly350=) c.1085_1086delinsGA (p.Gly362=) c.827_828delinsGA (p.Gly276=) c.986_987delinsGA (p.Gly329=) | |
| 15 | g.38351379A>C | CA490012067 | SPRED1 | c.1050A>C (p.Gly350=) c.1086A>C (p.Gly362=) c.828A>C (p.Gly276=) c.987A>C (p.Gly329=) | |
| 15 | g.38351379A>G | CA490012069 | SPRED1 | c.1050A>G (p.Gly350=) c.1086A>G (p.Gly362=) c.828A>G (p.Gly276=) c.987A>G (p.Gly329=) | |
| 15 | g.38351379A>T | CA490012070 | SPRED1 | c.1050A>T (p.Gly350=) c.1086A>T (p.Gly362=) c.828A>T (p.Gly276=) c.987A>T (p.Gly329=) | |
| 15 | g.38351382del | CA891843556 | SPRED1 | c.1053del (p.Lys351AsnfsTer?) c.1089del (p.Lys363AsnfsTer?) c.831del (p.Lys277AsnfsTer?) c.990del (p.Lys330AsnfsTer?) | ClinVar dbSNP |
| 15 | g.38351380_38351382del | CA2627716212 | SPRED1 | c.1051_1053del (p.Lys351del) c.1087_1089del (p.Lys363del) c.829_831del (p.Lys277del) c.988_990del (p.Lys330del) | gnomAD v4 |
| 15 | g.38351380A>C | CA391933923 | SPRED1 | c.1051A>C (p.Lys351Gln) c.1087A>C (p.Lys363Gln) c.829A>C (p.Lys277Gln) c.988A>C (p.Lys330Gln) | |
| 15 | g.38351380A>G | CA391933925 | SPRED1 | c.1051A>G (p.Lys351Glu) c.1087A>G (p.Lys363Glu) c.829A>G (p.Lys277Glu) c.988A>G (p.Lys330Glu) | |
| 15 | g.38351380A>T | CA391933926 | SPRED1 | c.1051A>T (p.Lys351Ter) c.1087A>T (p.Lys363Ter) c.829A>T (p.Lys277Ter) c.988A>T (p.Lys330Ter) | |
| 15 | g.38351381A>C | CA391933930 | SPRED1 | c.1052A>C (p.Lys351Thr) c.1088A>C (p.Lys363Thr) c.830A>C (p.Lys277Thr) c.989A>C (p.Lys330Thr) | |
| 15 | g.38351381A>G | CA391933932 | SPRED1 | c.1052A>G (p.Lys351Arg) c.1088A>G (p.Lys363Arg) c.830A>G (p.Lys277Arg) c.989A>G (p.Lys330Arg) | |
| 15 | g.38351381A>T | CA391933928 | SPRED1 | c.1052A>T (p.Lys351Ile) c.1088A>T (p.Lys363Ile) c.830A>T (p.Lys277Ile) c.989A>T (p.Lys330Ile) | |
| 15 | g.38351382A>C | CA391933933 | SPRED1 | c.1053A>C (p.Lys351Asn) c.1089A>C (p.Lys363Asn) c.831A>C (p.Lys277Asn) c.990A>C (p.Lys330Asn) | COSMIC |
| 15 | g.38351382A>G | CA490012077 | SPRED1 | c.1053A>G (p.Lys351=) c.1089A>G (p.Lys363=) c.831A>G (p.Lys277=) c.990A>G (p.Lys330=) | |
| 15 | g.38351382A>T | CA391933935 | SPRED1 | c.1053A>T (p.Lys351Asn) c.1089A>T (p.Lys363Asn) c.831A>T (p.Lys277Asn) c.990A>T (p.Lys330Asn) | |
| 15 | g.38351383T>A | CA391933937 | SPRED1 | c.1054T>A (p.Cys352Ser) c.1090T>A (p.Cys364Ser) c.832T>A (p.Cys278Ser) c.991T>A (p.Cys331Ser) | |
| 15 | g.38351383T>C | CA391933939 | SPRED1 | c.1054T>C (p.Cys352Arg) c.1090T>C (p.Cys364Arg) c.832T>C (p.Cys278Arg) c.991T>C (p.Cys331Arg) | |
| 15 | g.38351383T>G | CA391933940 | SPRED1 | c.1054T>G (p.Cys352Gly) c.1090T>G (p.Cys364Gly) c.832T>G (p.Cys278Gly) c.991T>G (p.Cys331Gly) | |
| 15 | g.38351384G>A | CA391933945 | SPRED1 | c.1055G>A (p.Cys352Tyr) c.1091G>A (p.Cys364Tyr) c.833G>A (p.Cys278Tyr) c.992G>A (p.Cys331Tyr) | |
| 15 | g.38351384G>C | CA391933943 | SPRED1 | c.1055G>C (p.Cys352Ser) c.1091G>C (p.Cys364Ser) c.833G>C (p.Cys278Ser) c.992G>C (p.Cys331Ser) | |
| 15 | g.38351384G>T | CA391933944 | SPRED1 | c.1055G>T (p.Cys352Phe) c.1091G>T (p.Cys364Phe) c.833G>T (p.Cys278Phe) c.992G>T (p.Cys331Phe) | |
| 15 | g.38351385T>A | CA391933948 | SPRED1 | c.1056T>A (p.Cys352Ter) c.1092T>A (p.Cys364Ter) c.834T>A (p.Cys278Ter) c.993T>A (p.Cys331Ter) | |
| 15 | g.38351385T>C | CA490012087 | SPRED1 | c.1056T>C (p.Cys352=) c.1092T>C (p.Cys364=) c.834T>C (p.Cys278=) c.993T>C (p.Cys331=) | |
| 15 | g.38351385T>G | CA391933950 | SPRED1 | c.1056T>G (p.Cys352Trp) c.1092T>G (p.Cys364Trp) c.834T>G (p.Cys278Trp) c.993T>G (p.Cys331Trp) | |
| 15 | g.38351386C>A | CA391933951 | SPRED1 | c.1057C>A (p.Gln353Lys) c.1093C>A (p.Gln365Lys) c.835C>A (p.Gln279Lys) c.994C>A (p.Gln332Lys) | |
| 15 | g.38351386C>G | CA391933953 | SPRED1 | c.1057C>G (p.Gln353Glu) c.1093C>G (p.Gln365Glu) c.835C>G (p.Gln279Glu) c.994C>G (p.Gln332Glu) | |
| 15 | g.38351386C>T | CA391933955 | SPRED1 | c.1057C>T (p.Gln353Ter) c.1093C>T (p.Gln365Ter) c.835C>T (p.Gln279Ter) c.994C>T (p.Gln332Ter) | COSMIC |
| 15 | g.38351387A>C | CA391933960 | SPRED1 | c.1058A>C (p.Gln353Pro) c.1094A>C (p.Gln365Pro) c.836A>C (p.Gln279Pro) c.995A>C (p.Gln332Pro) | |
| 15 | g.38351387A>G | CA391933958 | SPRED1 | c.1058A>G (p.Gln353Arg) c.1094A>G (p.Gln365Arg) c.836A>G (p.Gln279Arg) c.995A>G (p.Gln332Arg) | |
| 15 | g.38351387A>T | CA391933957 | SPRED1 | c.1058A>T (p.Gln353Leu) c.1094A>T (p.Gln365Leu) c.836A>T (p.Gln279Leu) c.995A>T (p.Gln332Leu) | |
| 15 | g.38351388G>A | CA490012099 | SPRED1 | c.1059G>A (p.Gln353=) c.1095G>A (p.Gln365=) c.837G>A (p.Gln279=) c.996G>A (p.Gln332=) | |
| 15 | g.38351388G>C | CA391933962 | SPRED1 | c.1059G>C (p.Gln353His) c.1095G>C (p.Gln365His) c.837G>C (p.Gln279His) c.996G>C (p.Gln332His) | |
| 15 | g.38351388G>T | CA391933963 | SPRED1 | c.1059G>T (p.Gln353His) c.1095G>T (p.Gln365His) c.837G>T (p.Gln279His) c.996G>T (p.Gln332His) | |
| 15 | g.38351389G>A | CA391933965 | SPRED1 | c.1060G>A (p.Asp354Asn) c.1096G>A (p.Asp366Asn) c.838G>A (p.Asp280Asn) c.997G>A (p.Asp333Asn) | |
| 15 | g.38351389G>C | CA391933966 | SPRED1 | c.1060G>C (p.Asp354His) c.1096G>C (p.Asp366His) c.838G>C (p.Asp280His) c.997G>C (p.Asp333His) | |
| 15 | g.38351389G>T | CA391933968 | SPRED1 | c.1060G>T (p.Asp354Tyr) c.1096G>T (p.Asp366Tyr) c.838G>T (p.Asp280Tyr) c.997G>T (p.Asp333Tyr) | COSMIC |
| 15 | g.38351390A>C | CA391933970 | SPRED1 | c.1061A>C (p.Asp354Ala) c.1097A>C (p.Asp366Ala) c.839A>C (p.Asp280Ala) c.998A>C (p.Asp333Ala) | |
| 15 | g.38351390A>G | CA391933971 | SPRED1 | c.1061A>G (p.Asp354Gly) c.1097A>G (p.Asp366Gly) c.839A>G (p.Asp280Gly) c.998A>G (p.Asp333Gly) | |
| 15 | g.38351390A>T | CA391933973 | SPRED1 | c.1061A>T (p.Asp354Val) c.1097A>T (p.Asp366Val) c.839A>T (p.Asp280Val) c.998A>T (p.Asp333Val) | |
| 15 | g.38351391del | CA2573053987 | SPRED1 | c.1062del (p.Asp354GlufsTer?) c.1098del (p.Asp366GlufsTer?) c.840del (p.Asp280GlufsTer?) c.999del (p.Asp333GlufsTer?) | ClinVar dbSNP |
| 15 | g.38351391T>A | CA391933977 | SPRED1 | c.1062T>A (p.Asp354Glu) c.1098T>A (p.Asp366Glu) c.840T>A (p.Asp280Glu) c.999T>A (p.Asp333Glu) | |
| 15 | g.38351391T>C | CA490012104 | SPRED1 | c.1062T>C (p.Asp354=) c.1098T>C (p.Asp366=) c.840T>C (p.Asp280=) c.999T>C (p.Asp333=) | |
| 15 | g.38351391T>G | CA391933975 | SPRED1 | c.1062T>G (p.Asp354Glu) c.1098T>G (p.Asp366Glu) c.840T>G (p.Asp280Glu) c.999T>G (p.Asp333Glu) | |
| 15 | g.38351392G>A | CA391933979 | SPRED1 | c.1063G>A (p.Ala355Thr) c.1099G>A (p.Ala367Thr) c.841G>A (p.Ala281Thr) c.1000G>A (p.Ala334Thr) | |
| 15 | g.38351392G>C | CA391933981 | SPRED1 | c.1063G>C (p.Ala355Pro) c.1099G>C (p.Ala367Pro) c.841G>C (p.Ala281Pro) c.1000G>C (p.Ala334Pro) | |
| 15 | g.38351392G>T | CA391933983 | SPRED1 | c.1063G>T (p.Ala355Ser) c.1099G>T (p.Ala367Ser) c.841G>T (p.Ala281Ser) c.1000G>T (p.Ala334Ser) | |
| 15 | g.38351393C>A | CA391933984 | SPRED1 | c.1064C>A (p.Ala355Asp) c.1100C>A (p.Ala367Asp) c.842C>A (p.Ala281Asp) c.1001C>A (p.Ala334Asp) | |
| 15 | g.38351393C>G | CA391933986 | SPRED1 | c.1064C>G (p.Ala355Gly) c.1100C>G (p.Ala367Gly) c.842C>G (p.Ala281Gly) c.1001C>G (p.Ala334Gly) | |
| 15 | g.38351393C>T | CA391933988 | SPRED1 | c.1064C>T (p.Ala355Val) c.1100C>T (p.Ala367Val) c.842C>T (p.Ala281Val) c.1001C>T (p.Ala334Val) | |
| 15 | g.38351394T>A | CA490012111 | SPRED1 | c.1065T>A (p.Ala355=) c.1101T>A (p.Ala367=) c.843T>A (p.Ala281=) c.1002T>A (p.Ala334=) | |
| 15 | g.38351394T>C | CA490012113 | SPRED1 | c.1065T>C (p.Ala355=) c.1101T>C (p.Ala367=) c.843T>C (p.Ala281=) c.1002T>C (p.Ala334=) | ClinVar |
| 15 | g.38351394T>G | CA490012112 | SPRED1 | c.1065T>G (p.Ala355=) c.1101T>G (p.Ala367=) c.843T>G (p.Ala281=) c.1002T>G (p.Ala334=) | |
| 15 | g.38351395C>A | CA391933990 | SPRED1 | c.1066C>A (p.Pro356Thr) c.1102C>A (p.Pro368Thr) c.844C>A (p.Pro282Thr) c.1003C>A (p.Pro335Thr) | gnomAD v4 |
| 15 | g.38351395C>G | CA391933992 | SPRED1 | c.1066C>G (p.Pro356Ala) c.1102C>G (p.Pro368Ala) c.844C>G (p.Pro282Ala) c.1003C>G (p.Pro335Ala) | |
| 15 | g.38351395C>T | CA391933991 | SPRED1 | c.1066C>T (p.Pro356Ser) c.1102C>T (p.Pro368Ser) c.844C>T (p.Pro282Ser) c.1003C>T (p.Pro335Ser) | |
| 15 | g.38351396C>A | CA391933994 | SPRED1 | c.1067C>A (p.Pro356Gln) c.1103C>A (p.Pro368Gln) c.845C>A (p.Pro282Gln) c.1004C>A (p.Pro335Gln) | ClinVar |
| 15 | g.38351396C>G | CA391933996 | SPRED1 | c.1067C>G (p.Pro356Arg) c.1103C>G (p.Pro368Arg) c.845C>G (p.Pro282Arg) c.1004C>G (p.Pro335Arg) | |
| 15 | g.38351396C>T | CA391933998 | SPRED1 | c.1067C>T (p.Pro356Leu) c.1103C>T (p.Pro368Leu) c.845C>T (p.Pro282Leu) c.1004C>T (p.Pro335Leu) | |
| 15 | g.38351397A>C | CA490012117 | SPRED1 | c.1068A>C (p.Pro356=) c.1104A>C (p.Pro368=) c.846A>C (p.Pro282=) c.1005A>C (p.Pro335=) | |
| 15 | g.38351397A>G | CA490012120 | SPRED1 | c.1068A>G (p.Pro356=) c.1104A>G (p.Pro368=) c.846A>G (p.Pro282=) c.1005A>G (p.Pro335=) | |
| 15 | g.38351397A>T | CA490012121 | SPRED1 | c.1068A>T (p.Pro356=) c.1104A>T (p.Pro368=) c.846A>T (p.Pro282=) c.1005A>T (p.Pro335=) | |
| 15 | g.38351398G>A | CA391934000 | SPRED1 | c.1069G>A (p.Asp357Asn) c.1105G>A (p.Asp369Asn) c.847G>A (p.Asp283Asn) c.1006G>A (p.Asp336Asn) | |
| 15 | g.38351398G>C | CA391934001 | SPRED1 | c.1069G>C (p.Asp357His) c.1105G>C (p.Asp369His) c.847G>C (p.Asp283His) c.1006G>C (p.Asp336His) | |
| 15 | g.38351398G>T | CA391934003 | SPRED1 | c.1069G>T (p.Asp357Tyr) c.1105G>T (p.Asp369Tyr) c.847G>T (p.Asp283Tyr) c.1006G>T (p.Asp336Tyr) | |
| 15 | g.38351399A>C | CA391934005 | SPRED1 | c.1070A>C (p.Asp357Ala) c.1106A>C (p.Asp369Ala) c.848A>C (p.Asp283Ala) c.1007A>C (p.Asp336Ala) | |
| 15 | g.38351399A>G | CA391934006 | SPRED1 | c.1070A>G (p.Asp357Gly) c.1106A>G (p.Asp369Gly) c.848A>G (p.Asp283Gly) c.1007A>G (p.Asp336Gly) | COSMIC |
| 15 | g.38351399A>T | CA391934008 | SPRED1 | c.1070A>T (p.Asp357Val) c.1106A>T (p.Asp369Val) c.848A>T (p.Asp283Val) c.1007A>T (p.Asp336Val) | |
| 15 | g.38351400C>A | CA391934010 | SPRED1 | c.1071C>A (p.Asp357Glu) c.1107C>A (p.Asp369Glu) c.849C>A (p.Asp283Glu) c.1008C>A (p.Asp336Glu) | |
| 15 | g.38351400C>G | CA391934013 | SPRED1 | c.1071C>G (p.Asp357Glu) c.1107C>G (p.Asp369Glu) c.849C>G (p.Asp283Glu) c.1008C>G (p.Asp336Glu) | |
| 15 | g.38351400C>T | CA490012133 | SPRED1 | c.1071C>T (p.Asp357=) c.1107C>T (p.Asp369=) c.849C>T (p.Asp283=) c.1008C>T (p.Asp336=) | gnomAD v4 |
| 15 | g.38351402del | CA658761253 | SPRED1 | c.1073del (p.Pro358LeufsTer?) c.1109del (p.Pro370LeufsTer?) c.851del (p.Pro284LeufsTer?) c.1010del (p.Pro337LeufsTer?) | ClinVar |
| 15 | g.38351401C>A | CA391934016 | SPRED1 | c.1072C>A (p.Pro358Thr) c.1108C>A (p.Pro370Thr) c.850C>A (p.Pro284Thr) c.1009C>A (p.Pro337Thr) | |
| 15 | g.38351401C>G | CA391934018 | SPRED1 | c.1072C>G (p.Pro358Ala) c.1108C>G (p.Pro370Ala) c.850C>G (p.Pro284Ala) c.1009C>G (p.Pro337Ala) | |
| 15 | g.38351401C>T | CA391934017 | SPRED1 | c.1072C>T (p.Pro358Ser) c.1108C>T (p.Pro370Ser) c.850C>T (p.Pro284Ser) c.1009C>T (p.Pro337Ser) | |
| 15 | g.38351402C>A | CA391934020 | SPRED1 | c.1073C>A (p.Pro358His) c.1109C>A (p.Pro370His) c.851C>A (p.Pro284His) c.1010C>A (p.Pro337His) | |
| 15 | g.38351402C= | CA2170812701 | SPRED1 | c.1073C= (p.Pro358=) c.1109C= (p.Pro370=) c.851C= (p.Pro284=) c.1010C= (p.Pro337=) | |
| 15 | g.38351402C>G | CA7470225 | SPRED1 | c.1073C>G (p.Pro358Arg) c.1109C>G (p.Pro370Arg) c.851C>G (p.Pro284Arg) c.1010C>G (p.Pro337Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.38351402C>T | CA391934023 | SPRED1 | c.1073C>T (p.Pro358Leu) c.1109C>T (p.Pro370Leu) c.851C>T (p.Pro284Leu) c.1010C>T (p.Pro337Leu) | gnomAD v4 |
| 15 | g.38351403T>A | CA490012142 | SPRED1 | c.1074T>A (p.Pro358=) c.1110T>A (p.Pro370=) c.852T>A (p.Pro284=) c.1011T>A (p.Pro337=) | dbSNP |
| 15 | g.38351403T>C | CA490012140 | SPRED1 | c.1074T>C (p.Pro358=) c.1110T>C (p.Pro370=) c.852T>C (p.Pro284=) c.1011T>C (p.Pro337=) | |
| 15 | g.38351403T>G | CA490012141 | SPRED1 | c.1074T>G (p.Pro358=) c.1110T>G (p.Pro370=) c.852T>G (p.Pro284=) c.1011T>G (p.Pro337=) | |
| 15 | g.38351403T= | CA2170812702 | SPRED1 | c.1074T= (p.Pro358=) c.1110T= (p.Pro370=) c.852T= (p.Pro284=) c.1011T= (p.Pro337=) | |
| 15 | g.38351404_38351405insAGTA | CA2580089331 | SPRED1 | c.1075_1076insAGTA (p.Ile359LysfsTer3) c.1111_1112insAGTA (p.Ile371LysfsTer3) c.853_854insAGTA (p.Ile285LysfsTer3) c.1012_1013insAGTA (p.Ile338LysfsTer3) | ClinVar |
| 15 | g.38351404A>C | CA391934025 | SPRED1 | c.1075A>C (p.Ile359Leu) c.1111A>C (p.Ile371Leu) c.853A>C (p.Ile285Leu) c.1012A>C (p.Ile338Leu) | |
| 15 | g.38351404A>G | CA391934027 | SPRED1 | c.1075A>G (p.Ile359Val) c.1111A>G (p.Ile371Val) c.853A>G (p.Ile285Val) c.1012A>G (p.Ile338Val) | gnomAD v4 |
| 15 | g.38351404A>T | CA391934028 | SPRED1 | c.1075A>T (p.Ile359Phe) c.1111A>T (p.Ile371Phe) c.853A>T (p.Ile285Phe) c.1012A>T (p.Ile338Phe) | |
| 15 | g.38351405T>A | CA7470226 | SPRED1 | c.1076T>A (p.Ile359Asn) c.1112T>A (p.Ile371Asn) c.854T>A (p.Ile285Asn) c.1013T>A (p.Ile338Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.38351405T>C | CA391934031 | SPRED1 | c.1076T>C (p.Ile359Thr) c.1112T>C (p.Ile371Thr) c.854T>C (p.Ile285Thr) c.1013T>C (p.Ile338Thr) | |
| 15 | g.38351405T>G | CA391934033 | SPRED1 | c.1076T>G (p.Ile359Ser) c.1112T>G (p.Ile371Ser) c.854T>G (p.Ile285Ser) c.1013T>G (p.Ile338Ser) | |
| 15 | g.38351405T= | CA2170812703 | SPRED1 | c.1076T= (p.Ile359=) c.1112T= (p.Ile371=) c.854T= (p.Ile285=) c.1013T= (p.Ile338=) | |
| 15 | g.38351406T>A | CA490012149 | SPRED1 | c.1077T>A (p.Ile359=) c.1113T>A (p.Ile371=) c.855T>A (p.Ile285=) c.1014T>A (p.Ile338=) | |
| 15 | g.38351406T>C | CA490012151 | SPRED1 | c.1077T>C (p.Ile359=) c.1113T>C (p.Ile371=) c.855T>C (p.Ile285=) c.1014T>C (p.Ile338=) | |
| 15 | g.38351406T>G | CA391934034 | SPRED1 | c.1077T>G (p.Ile359Met) c.1113T>G (p.Ile371Met) c.855T>G (p.Ile285Met) c.1014T>G (p.Ile338Met) | |
| 15 | g.38351407A= | CA2170812704 | SPRED1 | c.1078A= (p.Lys360=) c.1114A= (p.Lys372=) c.856A= (p.Lys286=) c.1015A= (p.Lys339=) | |
| 15 | g.38351407A>C | CA391934037 | SPRED1 | c.1078A>C (p.Lys360Gln) c.1114A>C (p.Lys372Gln) c.856A>C (p.Lys286Gln) c.1015A>C (p.Lys339Gln) | |
| 15 | g.38351407A>G | CA269293459 | SPRED1 | c.1078A>G (p.Lys360Glu) c.1114A>G (p.Lys372Glu) c.856A>G (p.Lys286Glu) c.1015A>G (p.Lys339Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351407A>T | CA391934038 | SPRED1 | c.1078A>T (p.Lys360Ter) c.1114A>T (p.Lys372Ter) c.856A>T (p.Lys286Ter) c.1015A>T (p.Lys339Ter) | |
| 15 | g.38351408A>C | CA391934041 | SPRED1 | c.1079A>C (p.Lys360Thr) c.1115A>C (p.Lys372Thr) c.857A>C (p.Lys286Thr) c.1016A>C (p.Lys339Thr) | gnomAD v4 |
| 15 | g.38351408A>G | CA391934044 | SPRED1 | c.1079A>G (p.Lys360Arg) c.1115A>G (p.Lys372Arg) c.857A>G (p.Lys286Arg) c.1016A>G (p.Lys339Arg) | |
| 15 | g.38351408A>T | CA391934042 | SPRED1 | c.1079A>T (p.Lys360Ile) c.1115A>T (p.Lys372Ile) c.857A>T (p.Lys286Ile) c.1016A>T (p.Lys339Ile) | |
| 15 | g.38351409A= | CA2170812705 | SPRED1 | c.1080A= (p.Lys360=) c.1116A= (p.Lys372=) c.858A= (p.Lys286=) c.1017A= (p.Lys339=) | |
| 15 | g.38351409A>C | CA391934046 | SPRED1 | c.1080A>C (p.Lys360Asn) c.1116A>C (p.Lys372Asn) c.858A>C (p.Lys286Asn) c.1017A>C (p.Lys339Asn) | |
| 15 | g.38351409A>G | CA7470227 | SPRED1 | c.1080A>G (p.Lys360=) c.1116A>G (p.Lys372=) c.858A>G (p.Lys286=) c.1017A>G (p.Lys339=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351409A>T | CA391934048 | SPRED1 | c.1080A>T (p.Lys360Asn) c.1116A>T (p.Lys372Asn) c.858A>T (p.Lys286Asn) c.1017A>T (p.Lys339Asn) | |
| 15 | g.38351410A>C | CA490012158 | SPRED1 | c.1081A>C (p.Arg361=) c.1117A>C (p.Arg373=) c.859A>C (p.Arg287=) c.1018A>C (p.Arg340=) | |
| 15 | g.38351410A>G | CA391934050 | SPRED1 | c.1081A>G (p.Arg361Gly) c.1117A>G (p.Arg373Gly) c.859A>G (p.Arg287Gly) c.1018A>G (p.Arg340Gly) | |
| 15 | g.38351410A>T | CA391934051 | SPRED1 | c.1081A>T (p.Arg361Ter) c.1117A>T (p.Arg373Ter) c.859A>T (p.Arg287Ter) c.1018A>T (p.Arg340Ter) | |
| 15 | g.38351411G>A | CA391934053 | SPRED1 | c.1082G>A (p.Arg361Lys) c.1118G>A (p.Arg373Lys) c.860G>A (p.Arg287Lys) c.1019G>A (p.Arg340Lys) | |
| 15 | g.38351411G>C | CA391934055 | SPRED1 | c.1082G>C (p.Arg361Thr) c.1118G>C (p.Arg373Thr) c.860G>C (p.Arg287Thr) c.1019G>C (p.Arg340Thr) | |
| 15 | g.38351411G>T | CA391934056 | SPRED1 | c.1082G>T (p.Arg361Ile) c.1118G>T (p.Arg373Ile) c.860G>T (p.Arg287Ile) c.1019G>T (p.Arg340Ile) | |
| 15 | g.38351412A>C | CA391934058 | SPRED1 | c.1083A>C (p.Arg361Ser) c.1119A>C (p.Arg373Ser) c.861A>C (p.Arg287Ser) c.1020A>C (p.Arg340Ser) | gnomAD v4 |
| 15 | g.38351412A>G | CA490012160 | SPRED1 | c.1083A>G (p.Arg361=) c.1119A>G (p.Arg373=) c.861A>G (p.Arg287=) c.1020A>G (p.Arg340=) | |
| 15 | g.38351412A>T | CA391934059 | SPRED1 | c.1083A>T (p.Arg361Ser) c.1119A>T (p.Arg373Ser) c.861A>T (p.Arg287Ser) c.1020A>T (p.Arg340Ser) | |
| 15 | g.38351413T>A | CA391934063 | SPRED1 | c.1084T>A (p.Cys362Ser) c.1120T>A (p.Cys374Ser) c.862T>A (p.Cys288Ser) c.1021T>A (p.Cys341Ser) | |
| 15 | g.38351413T>C | CA391934065 | SPRED1 | c.1084T>C (p.Cys362Arg) c.1120T>C (p.Cys374Arg) c.862T>C (p.Cys288Arg) c.1021T>C (p.Cys341Arg) | |
| 15 | g.38351413T>G | CA391934061 | SPRED1 | c.1084T>G (p.Cys362Gly) c.1120T>G (p.Cys374Gly) c.862T>G (p.Cys288Gly) c.1021T>G (p.Cys341Gly) | |
| 15 | g.38351414G>A | CA391934070 | SPRED1 | c.1085G>A (p.Cys362Tyr) c.1121G>A (p.Cys374Tyr) c.863G>A (p.Cys288Tyr) c.1022G>A (p.Cys341Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351414G>C | CA391934067 | SPRED1 | c.1085G>C (p.Cys362Ser) c.1121G>C (p.Cys374Ser) c.863G>C (p.Cys288Ser) c.1022G>C (p.Cys341Ser) | |
| 15 | g.38351414G= | CA2170812706 | SPRED1 | c.1085G= (p.Cys362=) c.1121G= (p.Cys374=) c.863G= (p.Cys288=) c.1022G= (p.Cys341=) | |
| 15 | g.38351414G>T | CA391934069 | SPRED1 | c.1085G>T (p.Cys362Phe) c.1121G>T (p.Cys374Phe) c.863G>T (p.Cys288Phe) c.1022G>T (p.Cys341Phe) | |
| 15 | g.38351415C>A | CA391934072 | SPRED1 | c.1086C>A (p.Cys362Ter) c.1122C>A (p.Cys374Ter) c.864C>A (p.Cys288Ter) c.1023C>A (p.Cys341Ter) | |
| 15 | g.38351415C= | CA2170812707 | SPRED1 | c.1086C= (p.Cys362=) c.1122C= (p.Cys374=) c.864C= (p.Cys288=) c.1023C= (p.Cys341=) | |
| 15 | g.38351415C>G | CA391934073 | SPRED1 | c.1086C>G (p.Cys362Trp) c.1122C>G (p.Cys374Trp) c.864C>G (p.Cys288Trp) c.1023C>G (p.Cys341Trp) | gnomAD v4 |
| 15 | g.38351415C>T | CA7470228 | SPRED1 | c.1086C>T (p.Cys362=) c.1122C>T (p.Cys374=) c.864C>T (p.Cys288=) c.1023C>T (p.Cys341=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.38351416A= | CA2170812708 | SPRED1 | c.1087A= (p.Ile363=) c.1123A= (p.Ile375=) c.865A= (p.Ile289=) c.1024A= (p.Ile342=) | |
| 15 | g.38351416A>C | CA391934077 | SPRED1 | c.1087A>C (p.Ile363Leu) c.1123A>C (p.Ile375Leu) c.865A>C (p.Ile289Leu) c.1024A>C (p.Ile342Leu) | |
| 15 | g.38351416A>G | CA7470229 | SPRED1 | c.1087A>G (p.Ile363Val) c.1123A>G (p.Ile375Val) c.865A>G (p.Ile289Val) c.1024A>G (p.Ile342Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351416A>T | CA391934079 | SPRED1 | c.1087A>T (p.Ile363Leu) c.1123A>T (p.Ile375Leu) c.865A>T (p.Ile289Leu) c.1024A>T (p.Ile342Leu) | |
| 15 | g.38351417T>A | CA391934081 | SPRED1 | c.1088T>A (p.Ile363Lys) c.1124T>A (p.Ile375Lys) c.866T>A (p.Ile289Lys) c.1025T>A (p.Ile342Lys) | |
| 15 | g.38351417T>C | CA391934083 | SPRED1 | c.1088T>C (p.Ile363Thr) c.1124T>C (p.Ile375Thr) c.866T>C (p.Ile289Thr) c.1025T>C (p.Ile342Thr) | |
| 15 | g.38351417T>G | CA391934084 | SPRED1 | c.1088T>G (p.Ile363Arg) c.1124T>G (p.Ile375Arg) c.866T>G (p.Ile289Arg) c.1025T>G (p.Ile342Arg) | |
| 15 | g.38351418A= | CA2170812709 | SPRED1 | c.1089A= (p.Ile363=) c.1125A= (p.Ile375=) c.867A= (p.Ile289=) c.1026A= (p.Ile342=) | |
| 15 | g.38351418A>C | CA490012169 | SPRED1 | c.1089A>C (p.Ile363=) c.1125A>C (p.Ile375=) c.867A>C (p.Ile289=) c.1026A>C (p.Ile342=) | |
| 15 | g.38351418A>G | CA7470230 | SPRED1 | c.1089A>G (p.Ile363Met) c.1125A>G (p.Ile375Met) c.867A>G (p.Ile289Met) c.1026A>G (p.Ile342Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351418A>T | CA490012170 | SPRED1 | c.1089A>T (p.Ile363=) c.1125A>T (p.Ile375=) c.867A>T (p.Ile289=) c.1026A>T (p.Ile342=) | |
| 15 | g.38351420_38351435del | CA2580089333 | SPRED1 | c.1091_1106del (p.Tyr364CysfsTer?) c.1127_1142del (p.Tyr376CysfsTer?) c.869_884del (p.Tyr290CysfsTer?) c.1028_1043del (p.Tyr343CysfsTer?) | ClinVar |
| 15 | g.38351419T>A | CA391934089 | SPRED1 | c.1090T>A (p.Tyr364Asn) c.1126T>A (p.Tyr376Asn) c.868T>A (p.Tyr290Asn) c.1027T>A (p.Tyr343Asn) | |
| 15 | g.38351419T>C | CA391934090 | SPRED1 | c.1090T>C (p.Tyr364His) c.1126T>C (p.Tyr376His) c.868T>C (p.Tyr290His) c.1027T>C (p.Tyr343His) | |
| 15 | g.38351419T>G | CA391934087 | SPRED1 | c.1090T>G (p.Tyr364Asp) c.1126T>G (p.Tyr376Asp) c.868T>G (p.Tyr290Asp) c.1027T>G (p.Tyr343Asp) | |
| 15 | g.38351420A= | CA2170812710 | SPRED1 | c.1091A= (p.Tyr364=) c.1127A= (p.Tyr376=) c.869A= (p.Tyr290=) c.1028A= (p.Tyr343=) | |
| 15 | g.38351420A>C | CA391934092 | SPRED1 | c.1091A>C (p.Tyr364Ser) c.1127A>C (p.Tyr376Ser) c.869A>C (p.Tyr290Ser) c.1028A>C (p.Tyr343Ser) | |
| 15 | g.38351420A>G | CA391934094 | SPRED1 | c.1091A>G (p.Tyr364Cys) c.1127A>G (p.Tyr376Cys) c.869A>G (p.Tyr290Cys) c.1028A>G (p.Tyr343Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.38351420A>T | CA391934096 | SPRED1 | c.1091A>T (p.Tyr364Phe) c.1127A>T (p.Tyr376Phe) c.869A>T (p.Tyr290Phe) c.1028A>T (p.Tyr343Phe) | |
| 15 | g.38351421T>A | CA391934097 | SPRED1 | c.1092T>A (p.Tyr364Ter) c.1128T>A (p.Tyr376Ter) c.870T>A (p.Tyr290Ter) c.1029T>A (p.Tyr343Ter) | |
| 15 | g.38351421T>C | CA490012173 | SPRED1 | c.1092T>C (p.Tyr364=) c.1128T>C (p.Tyr376=) c.870T>C (p.Tyr290=) c.1029T>C (p.Tyr343=) | |
| 15 | g.38351421T>G | CA391934099 | SPRED1 | c.1092T>G (p.Tyr364Ter) c.1128T>G (p.Tyr376Ter) c.870T>G (p.Tyr290Ter) c.1029T>G (p.Tyr343Ter) | |
| 15 | g.38351422C>A | CA391934104 | SPRED1 | c.1093C>A (p.Gln365Lys) c.1129C>A (p.Gln377Lys) c.871C>A (p.Gln291Lys) c.1030C>A (p.Gln344Lys) | |
| 15 | g.38351422C>G | CA391934101 | SPRED1 | c.1093C>G (p.Gln365Glu) c.1129C>G (p.Gln377Glu) c.871C>G (p.Gln291Glu) c.1030C>G (p.Gln344Glu) | |
| 15 | g.38351422C>T | CA391934103 | SPRED1 | c.1093C>T (p.Gln365Ter) c.1129C>T (p.Gln377Ter) c.871C>T (p.Gln291Ter) c.1030C>T (p.Gln344Ter) | COSMIC |
| 15 | g.38351423A>C | CA391934106 | SPRED1 | c.1094A>C (p.Gln365Pro) c.1130A>C (p.Gln377Pro) c.872A>C (p.Gln291Pro) c.1031A>C (p.Gln344Pro) | |
| 15 | g.38351423A>G | CA391934108 | SPRED1 | c.1094A>G (p.Gln365Arg) c.1130A>G (p.Gln377Arg) c.872A>G (p.Gln291Arg) c.1031A>G (p.Gln344Arg) | |
| 15 | g.38351423A>T | CA391934109 | SPRED1 | c.1094A>T (p.Gln365Leu) c.1130A>T (p.Gln377Leu) c.872A>T (p.Gln291Leu) c.1031A>T (p.Gln344Leu) | |
| 15 | g.38351423_38351427delinsAAGTT | CA2170812711 | SPRED1 | c.1094_1098delinsAAGTT (p.Gln365=) c.1130_1134delinsAAGTT (p.Gln377=) c.872_876delinsAAGTT (p.Gln291=) c.1031_1035delinsAAGTT (p.Gln344=) | |
| 15 | g.38351424A>C | CA391934110 | SPRED1 | c.1095A>C (p.Gln365His) c.1131A>C (p.Gln377His) c.873A>C (p.Gln291His) c.1032A>C (p.Gln344His) | |
| 15 | g.38351424A>G | CA490012176 | SPRED1 | c.1095A>G (p.Gln365=) c.1131A>G (p.Gln377=) c.873A>G (p.Gln291=) c.1032A>G (p.Gln344=) | |
| 15 | g.38351424A>T | CA391934112 | SPRED1 | c.1095A>T (p.Gln365His) c.1131A>T (p.Gln377His) c.873A>T (p.Gln291His) c.1032A>T (p.Gln344His) | |
| 15 | g.38351428_38351431del | CA658658278 | SPRED1 | c.1099_1102del (p.Ser367AlafsTer?) c.1135_1138del (p.Ser379AlafsTer?) c.877_880del (p.Ser293AlafsTer?) c.1036_1039del (p.Ser346AlafsTer?) | ClinVar dbSNP |
| 15 | g.38351425G>A | CA7470231 | SPRED1 | c.1096G>A (p.Val366Ile) c.1132G>A (p.Val378Ile) c.874G>A (p.Val292Ile) c.1033G>A (p.Val345Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351425G>C | CA391934116 | SPRED1 | c.1096G>C (p.Val366Leu) c.1132G>C (p.Val378Leu) c.874G>C (p.Val292Leu) c.1033G>C (p.Val345Leu) | |
| 15 | g.38351425G= | CA2170812712 | SPRED1 | c.1096G= (p.Val366=) c.1132G= (p.Val378=) c.874G= (p.Val292=) c.1033G= (p.Val345=) | |
| 15 | g.38351425G>T | CA391934114 | SPRED1 | c.1096G>T (p.Val366Phe) c.1132G>T (p.Val378Phe) c.874G>T (p.Val292Phe) c.1033G>T (p.Val345Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.38351426T>A | CA391934118 | SPRED1 | c.1097T>A (p.Val366Asp) c.1133T>A (p.Val378Asp) c.875T>A (p.Val292Asp) c.1034T>A (p.Val345Asp) | |
| 15 | g.38351426T>C | CA391934119 | SPRED1 | c.1097T>C (p.Val366Ala) c.1133T>C (p.Val378Ala) c.875T>C (p.Val292Ala) c.1034T>C (p.Val345Ala) | |
| 15 | g.38351426T>G | CA391934121 | SPRED1 | c.1097T>G (p.Val366Gly) c.1133T>G (p.Val378Gly) c.875T>G (p.Val292Gly) c.1034T>G (p.Val345Gly) | |
| 15 | g.38351427T>A | CA490012179 | SPRED1 | c.1098T>A (p.Val366=) c.1134T>A (p.Val378=) c.876T>A (p.Val292=) c.1035T>A (p.Val345=) | |
| 15 | g.38351427T>C | CA490012180 | SPRED1 | c.1098T>C (p.Val366=) c.1134T>C (p.Val378=) c.876T>C (p.Val292=) c.1035T>C (p.Val345=) | |
| 15 | g.38351427T>G | CA490012182 | SPRED1 | c.1098T>G (p.Val366=) c.1134T>G (p.Val378=) c.876T>G (p.Val292=) c.1035T>G (p.Val345=) | ClinVar dbSNP |
| 15 | g.38351427T= | CA2170812713 | SPRED1 | c.1098T= (p.Val366=) c.1134T= (p.Val378=) c.876T= (p.Val292=) c.1035T= (p.Val345=) | |
| 15 | g.38351428A>C | CA391934123 | SPRED1 | c.1099A>C (p.Ser367Arg) c.1135A>C (p.Ser379Arg) c.877A>C (p.Ser293Arg) c.1036A>C (p.Ser346Arg) | |
| 15 | g.38351428A>G | CA391934124 | SPRED1 | c.1099A>G (p.Ser367Gly) c.1135A>G (p.Ser379Gly) c.877A>G (p.Ser293Gly) c.1036A>G (p.Ser346Gly) | |
| 15 | g.38351428A>T | CA391934126 | SPRED1 | c.1099A>T (p.Ser367Cys) c.1135A>T (p.Ser379Cys) c.877A>T (p.Ser293Cys) c.1036A>T (p.Ser346Cys) | |
| 15 | g.38351429G>A | CA391934131 | SPRED1 | c.1100G>A (p.Ser367Asn) c.1136G>A (p.Ser379Asn) c.878G>A (p.Ser293Asn) c.1037G>A (p.Ser346Asn) | gnomAD v4 |
| 15 | g.38351429G>C | CA391934128 | SPRED1 | c.1100G>C (p.Ser367Thr) c.1136G>C (p.Ser379Thr) c.878G>C (p.Ser293Thr) c.1037G>C (p.Ser346Thr) | |
| 15 | g.38351429G>T | CA391934129 | SPRED1 | c.1100G>T (p.Ser367Ile) c.1136G>T (p.Ser379Ile) c.878G>T (p.Ser293Ile) c.1037G>T (p.Ser346Ile) | |
| 15 | g.38351430T>A | CA391934133 | SPRED1 | c.1101T>A (p.Ser367Arg) c.1137T>A (p.Ser379Arg) c.879T>A (p.Ser293Arg) c.1038T>A (p.Ser346Arg) | |
| 15 | g.38351430T>C | CA490012185 | SPRED1 | c.1101T>C (p.Ser367=) c.1137T>C (p.Ser379=) c.879T>C (p.Ser293=) c.1038T>C (p.Ser346=) | |
| 15 | g.38351430T>G | CA391934135 | SPRED1 | c.1101T>G (p.Ser367Arg) c.1137T>G (p.Ser379Arg) c.879T>G (p.Ser293Arg) c.1038T>G (p.Ser346Arg) | |
| 15 | g.38351431T>A | CA391934137 | SPRED1 | c.1102T>A (p.Cys368Ser) c.1138T>A (p.Cys380Ser) c.880T>A (p.Cys294Ser) c.1039T>A (p.Cys347Ser) | |
| 15 | g.38351431T>C | CA391934138 | SPRED1 | c.1102T>C (p.Cys368Arg) c.1138T>C (p.Cys380Arg) c.880T>C (p.Cys294Arg) c.1039T>C (p.Cys347Arg) | |
| 15 | g.38351431T>G | CA391934140 | SPRED1 | c.1102T>G (p.Cys368Gly) c.1138T>G (p.Cys380Gly) c.880T>G (p.Cys294Gly) c.1039T>G (p.Cys347Gly) | |
| 15 | g.38351432G>A | CA391934142 | SPRED1 | c.1103G>A (p.Cys368Tyr) c.1139G>A (p.Cys380Tyr) c.881G>A (p.Cys294Tyr) c.1040G>A (p.Cys347Tyr) | |
| 15 | g.38351432G>C | CA391934144 | SPRED1 | c.1103G>C (p.Cys368Ser) c.1139G>C (p.Cys380Ser) c.881G>C (p.Cys294Ser) c.1040G>C (p.Cys347Ser) | ClinVar dbSNP |
| 15 | g.38351432G>T | CA391934143 | SPRED1 | c.1103G>T (p.Cys368Phe) c.1139G>T (p.Cys380Phe) c.881G>T (p.Cys294Phe) c.1040G>T (p.Cys347Phe) | |
| 15 | g.38351433C>A | CA391934145 | SPRED1 | c.1104C>A (p.Cys368Ter) c.1140C>A (p.Cys380Ter) c.882C>A (p.Cys294Ter) c.1041C>A (p.Cys347Ter) | |
| 15 | g.38351433C>G | CA391934147 | SPRED1 | c.1104C>G (p.Cys368Trp) c.1140C>G (p.Cys380Trp) c.882C>G (p.Cys294Trp) c.1041C>G (p.Cys347Trp) | |
| 15 | g.38351433C>T | CA490012190 | SPRED1 | c.1104C>T (p.Cys368=) c.1140C>T (p.Cys380=) c.882C>T (p.Cys294=) c.1041C>T (p.Cys347=) | gnomAD v4 |
| 15 | g.38351434A= | CA2170812714 | SPRED1 | c.1105A= (p.Met369=) c.1141A= (p.Met381=) c.883A= (p.Met295=) c.1042A= (p.Met348=) | |
| 15 | g.38351434A>C | CA391934148 | SPRED1 | c.1105A>C (p.Met369Leu) c.1141A>C (p.Met381Leu) c.883A>C (p.Met295Leu) c.1042A>C (p.Met348Leu) | |
| 15 | g.38351434A>G | CA391934150 | SPRED1 | c.1105A>G (p.Met369Val) c.1141A>G (p.Met381Val) c.883A>G (p.Met295Val) c.1042A>G (p.Met348Val) | |
| 15 | g.38351434A>T | CA7470232 | SPRED1 | c.1105A>T (p.Met369Leu) c.1141A>T (p.Met381Leu) c.883A>T (p.Met295Leu) c.1042A>T (p.Met348Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351435T>A | CA391934152 | SPRED1 | c.1106T>A (p.Met369Lys) c.1142T>A (p.Met381Lys) c.884T>A (p.Met295Lys) c.1043T>A (p.Met348Lys) | |
| 15 | g.38351435T>C | CA391934153 | SPRED1 | c.1106T>C (p.Met369Thr) c.1142T>C (p.Met381Thr) c.884T>C (p.Met295Thr) c.1043T>C (p.Met348Thr) | |
| 15 | g.38351435T>G | CA391934155 | SPRED1 | c.1106T>G (p.Met369Arg) c.1142T>G (p.Met381Arg) c.884T>G (p.Met295Arg) c.1043T>G (p.Met348Arg) | |
| 15 | g.38351436G>A | CA391934157 | SPRED1 | c.1107G>A (p.Met369Ile) c.1143G>A (p.Met381Ile) c.885G>A (p.Met295Ile) c.1044G>A (p.Met348Ile) | gnomAD v4 |
| 15 | g.38351436G>C | CA391934159 | SPRED1 | c.1107G>C (p.Met369Ile) c.1143G>C (p.Met381Ile) c.885G>C (p.Met295Ile) c.1044G>C (p.Met348Ile) | |
| 15 | g.38351436G>T | CA391934160 | SPRED1 | c.1107G>T (p.Met369Ile) c.1143G>T (p.Met381Ile) c.885G>T (p.Met295Ile) c.1044G>T (p.Met348Ile) | gnomAD v4 |
| 15 | g.38351437C>A | CA391934165 | SPRED1 | c.1108C>A (p.Leu370Ile) c.1144C>A (p.Leu382Ile) c.886C>A (p.Leu296Ile) c.1045C>A (p.Leu349Ile) | |
| 15 | g.38351437C= | CA2170812715 | SPRED1 | c.1108C= (p.Leu370=) c.1144C= (p.Leu382=) c.886C= (p.Leu296=) c.1045C= (p.Leu349=) | |
| 15 | g.38351437C>G | CA391934163 | SPRED1 | c.1108C>G (p.Leu370Val) c.1144C>G (p.Leu382Val) c.886C>G (p.Leu296Val) c.1045C>G (p.Leu349Val) | |
| 15 | g.38351437C>T | CA142268 | SPRED1 | c.1108C>T (p.Leu370Phe) c.1144C>T (p.Leu382Phe) c.886C>T (p.Leu296Phe) c.1045C>T (p.Leu349Phe) | ClinVar dbSNP |
| 15 | g.38351438T>A | CA391934166 | SPRED1 | c.1109T>A (p.Leu370His) c.1145T>A (p.Leu382His) c.887T>A (p.Leu296His) c.1046T>A (p.Leu349His) | |
| 15 | g.38351438T>C | CA391934170 | SPRED1 | c.1109T>C (p.Leu370Pro) c.1145T>C (p.Leu382Pro) c.887T>C (p.Leu296Pro) c.1046T>C (p.Leu349Pro) | ClinVar dbSNP |
| 15 | g.38351438T>G | CA391934168 | SPRED1 | c.1109T>G (p.Leu370Arg) c.1145T>G (p.Leu382Arg) c.887T>G (p.Leu296Arg) c.1046T>G (p.Leu349Arg) | |
| 15 | g.38351439del | CA645591364 | SPRED1 | c.1110del (p.Cys371ValfsTer?) c.1146del (p.Cys383ValfsTer?) c.888del (p.Cys297ValfsTer?) c.1047del (p.Cys350ValfsTer?) | COSMIC |
| 15 | g.38351439C>A | CA490012195 | SPRED1 | c.1110C>A (p.Leu370=) c.1146C>A (p.Leu382=) c.888C>A (p.Leu296=) c.1047C>A (p.Leu349=) | |
| 15 | g.38351439C= | CA2170812716 | SPRED1 | c.1110C= (p.Leu370=) c.1146C= (p.Leu382=) c.888C= (p.Leu296=) c.1047C= (p.Leu349=) | |
| 15 | g.38351439C>G | CA10576976 | SPRED1 | c.1110C>G (p.Leu370=) c.1146C>G (p.Leu382=) c.888C>G (p.Leu296=) c.1047C>G (p.Leu349=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351439C>T | CA490012196 | SPRED1 | c.1110C>T (p.Leu370=) c.1146C>T (p.Leu382=) c.888C>T (p.Leu296=) c.1047C>T (p.Leu349=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.38351440T>A | CA391934173 | SPRED1 | c.1111T>A (p.Cys371Ser) c.1147T>A (p.Cys383Ser) c.889T>A (p.Cys297Ser) c.1048T>A (p.Cys350Ser) | |
| 15 | g.38351440T>C | CA391934171 | SPRED1 | c.1111T>C (p.Cys371Arg) c.1147T>C (p.Cys383Arg) c.889T>C (p.Cys297Arg) c.1048T>C (p.Cys350Arg) | |
| 15 | g.38351440T>G | CA391934172 | SPRED1 | c.1111T>G (p.Cys371Gly) c.1147T>G (p.Cys383Gly) c.889T>G (p.Cys297Gly) c.1048T>G (p.Cys350Gly) | |
| 15 | g.38351441G>A | CA391934175 | SPRED1 | c.1112G>A (p.Cys371Tyr) c.1148G>A (p.Cys383Tyr) c.890G>A (p.Cys297Tyr) c.1049G>A (p.Cys350Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.38351441G>C | CA391934177 | SPRED1 | c.1112G>C (p.Cys371Ser) c.1148G>C (p.Cys383Ser) c.890G>C (p.Cys297Ser) c.1049G>C (p.Cys350Ser) | ClinVar |
| 15 | g.38351441G= | CA2170812717 | SPRED1 | c.1112G= (p.Cys371=) c.1148G= (p.Cys383=) c.890G= (p.Cys297=) c.1049G= (p.Cys350=) | |
| 15 | g.38351441G>T | CA391934178 | SPRED1 | c.1112G>T (p.Cys371Phe) c.1148G>T (p.Cys383Phe) c.890G>T (p.Cys297Phe) c.1049G>T (p.Cys350Phe) | |
| 15 | g.38351442T>A | CA391934180 | SPRED1 | c.1113T>A (p.Cys371Ter) c.1149T>A (p.Cys383Ter) c.891T>A (p.Cys297Ter) c.1050T>A (p.Cys350Ter) | |
| 15 | g.38351442T>C | CA490012199 | SPRED1 | c.1113T>C (p.Cys371=) c.1149T>C (p.Cys383=) c.891T>C (p.Cys297=) c.1050T>C (p.Cys350=) | |
| 15 | g.38351442T>G | CA391934182 | SPRED1 | c.1113T>G (p.Cys371Trp) c.1149T>G (p.Cys383Trp) c.891T>G (p.Cys297Trp) c.1050T>G (p.Cys350Trp) | |
| 15 | g.38351443G>A | CA391934184 | SPRED1 | c.1114G>A (p.Ala372Thr) c.1150G>A (p.Ala384Thr) c.892G>A (p.Ala298Thr) c.1051G>A (p.Ala351Thr) | |
| 15 | g.38351443G>C | CA391934185 | SPRED1 | c.1114G>C (p.Ala372Pro) c.1150G>C (p.Ala384Pro) c.892G>C (p.Ala298Pro) c.1051G>C (p.Ala351Pro) | |
| 15 | g.38351443G>T | CA391934186 | SPRED1 | c.1114G>T (p.Ala372Ser) c.1150G>T (p.Ala384Ser) c.892G>T (p.Ala298Ser) c.1051G>T (p.Ala351Ser) | gnomAD v2 gnomAD v4 |
| 15 | g.38351444C>A | CA391934188 | SPRED1 | c.1115C>A (p.Ala372Glu) c.1151C>A (p.Ala384Glu) c.893C>A (p.Ala298Glu) c.1052C>A (p.Ala351Glu) | |
| 15 | g.38351444C>G | CA391934190 | SPRED1 | c.1115C>G (p.Ala372Gly) c.1151C>G (p.Ala384Gly) c.893C>G (p.Ala298Gly) c.1052C>G (p.Ala351Gly) | |
| 15 | g.38351444C>T | CA391934192 | SPRED1 | c.1115C>T (p.Ala372Val) c.1151C>T (p.Ala384Val) c.893C>T (p.Ala298Val) c.1052C>T (p.Ala351Val) | gnomAD v4 |
| 15 | g.38351445A>C | CA490012203 | SPRED1 | c.1116A>C (p.Ala372=) c.1152A>C (p.Ala384=) c.894A>C (p.Ala298=) c.1053A>C (p.Ala351=) | |
| 15 | g.38351445A>G | CA490012206 | SPRED1 | c.1116A>G (p.Ala372=) c.1152A>G (p.Ala384=) c.894A>G (p.Ala298=) c.1053A>G (p.Ala351=) | |
| 15 | g.38351445A>T | CA490012207 | SPRED1 | c.1116A>T (p.Ala372=) c.1152A>T (p.Ala384=) c.894A>T (p.Ala298=) c.1053A>T (p.Ala351=) | |
| 15 | g.38351446G>A | CA391934196 | SPRED1 | c.1117G>A (p.Glu373Lys) c.1153G>A (p.Glu385Lys) c.895G>A (p.Glu299Lys) c.1054G>A (p.Glu352Lys) | COSMIC |
| 15 | g.38351446G>C | CA391934195 | SPRED1 | c.1117G>C (p.Glu373Gln) c.1153G>C (p.Glu385Gln) c.895G>C (p.Glu299Gln) c.1054G>C (p.Glu352Gln) | ClinVar |
| 15 | g.38351446G>T | CA391934193 | SPRED1 | c.1117G>T (p.Glu373Ter) c.1153G>T (p.Glu385Ter) c.895G>T (p.Glu299Ter) c.1054G>T (p.Glu352Ter) | ClinVar |
| 15 | g.38351447A>C | CA391934198 | SPRED1 | c.1118A>C (p.Glu373Ala) c.1154A>C (p.Glu385Ala) c.896A>C (p.Glu299Ala) c.1055A>C (p.Glu352Ala) | |
| 15 | g.38351447A>G | CA391934200 | SPRED1 | c.1118A>G (p.Glu373Gly) c.1154A>G (p.Glu385Gly) c.896A>G (p.Glu299Gly) c.1055A>G (p.Glu352Gly) | |
| 15 | g.38351447A>T | CA391934201 | SPRED1 | c.1118A>T (p.Glu373Val) c.1154A>T (p.Glu385Val) c.896A>T (p.Glu299Val) c.1055A>T (p.Glu352Val) | |
| 15 | g.38351450_38351474del | CA2575673317 | SPRED1 | c.1121_1145del (p.Ser374ThrfsTer24) c.1157_1181del (p.Ser386ThrfsTer24) c.899_923del (p.Ser300ThrfsTer24) c.1058_1082del (p.Ser353ThrfsTer24) | |
| 15 | g.38351448G>A | CA490012211 | SPRED1 | c.1119G>A (p.Glu373=) c.1155G>A (p.Glu385=) c.897G>A (p.Glu299=) c.1056G>A (p.Glu352=) | |
| 15 | g.38351448G>C | CA391934203 | SPRED1 | c.1119G>C (p.Glu373Asp) c.1155G>C (p.Glu385Asp) c.897G>C (p.Glu299Asp) c.1056G>C (p.Glu352Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351448G= | CA2170812718 | SPRED1 | c.1119G= (p.Glu373=) c.1155G= (p.Glu385=) c.897G= (p.Glu299=) c.1056G= (p.Glu352=) | |
| 15 | g.38351448G>T | CA391934204 | SPRED1 | c.1119G>T (p.Glu373Asp) c.1155G>T (p.Glu385Asp) c.897G>T (p.Glu299Asp) c.1056G>T (p.Glu352Asp) | ClinVar dbSNP |
| 15 | g.38351449A>C | CA391934206 | SPRED1 | c.1120A>C (p.Ser374Arg) c.1156A>C (p.Ser386Arg) c.898A>C (p.Ser300Arg) c.1057A>C (p.Ser353Arg) | |
| 15 | g.38351449A>G | CA391934208 | SPRED1 | c.1120A>G (p.Ser374Gly) c.1156A>G (p.Ser386Gly) c.898A>G (p.Ser300Gly) c.1057A>G (p.Ser353Gly) | |
| 15 | g.38351449A>T | CA391934209 | SPRED1 | c.1120A>T (p.Ser374Cys) c.1156A>T (p.Ser386Cys) c.898A>T (p.Ser300Cys) c.1057A>T (p.Ser353Cys) | |
| 15 | g.38351450G>A | CA391934210 | SPRED1 | c.1121G>A (p.Ser374Asn) c.1157G>A (p.Ser386Asn) c.899G>A (p.Ser300Asn) c.1058G>A (p.Ser353Asn) | |
| 15 | g.38351450G>C | CA391934212 | SPRED1 | c.1121G>C (p.Ser374Thr) c.1157G>C (p.Ser386Thr) c.899G>C (p.Ser300Thr) c.1058G>C (p.Ser353Thr) | |
| 15 | g.38351450G>T | CA391934214 | SPRED1 | c.1121G>T (p.Ser374Ile) c.1157G>T (p.Ser386Ile) c.899G>T (p.Ser300Ile) c.1058G>T (p.Ser353Ile) | gnomAD v4 |
| 15 | g.38351451C>A | CA391934215 | SPRED1 | c.1122C>A (p.Ser374Arg) c.1158C>A (p.Ser386Arg) c.900C>A (p.Ser300Arg) c.1059C>A (p.Ser353Arg) | |
| 15 | g.38351451C>G | CA391934216 | SPRED1 | c.1122C>G (p.Ser374Arg) c.1158C>G (p.Ser386Arg) c.900C>G (p.Ser300Arg) c.1059C>G (p.Ser353Arg) | |
| 15 | g.38351451C>T | CA490012220 | SPRED1 | c.1122C>T (p.Ser374=) c.1158C>T (p.Ser386=) c.900C>T (p.Ser300=) c.1059C>T (p.Ser353=) | COSMIC |
| 15 | g.38351452A= | CA2170812719 | SPRED1 | c.1123A= (p.Met375=) c.1159A= (p.Met387=) c.901A= (p.Met301=) c.1060A= (p.Met354=) | |
| 15 | g.38351452A>C | CA391934220 | SPRED1 | c.1123A>C (p.Met375Leu) c.1159A>C (p.Met387Leu) c.901A>C (p.Met301Leu) c.1060A>C (p.Met354Leu) | |
| 15 | g.38351452A>G | CA391934221 | SPRED1 | c.1123A>G (p.Met375Val) c.1159A>G (p.Met387Val) c.901A>G (p.Met301Val) c.1060A>G (p.Met354Val) | dbSNP gnomAD v4 |
| 15 | g.38351452A>T | CA391934218 | SPRED1 | c.1123A>T (p.Met375Leu) c.1159A>T (p.Met387Leu) c.901A>T (p.Met301Leu) c.1060A>T (p.Met354Leu) | |
| 15 | g.38351453T>A | CA391934223 | SPRED1 | c.1124T>A (p.Met375Lys) c.1160T>A (p.Met387Lys) c.902T>A (p.Met301Lys) c.1061T>A (p.Met354Lys) | |
| 15 | g.38351453T>C | CA391934224 | SPRED1 | c.1124T>C (p.Met375Thr) c.1160T>C (p.Met387Thr) c.902T>C (p.Met301Thr) c.1061T>C (p.Met354Thr) | |
| 15 | g.38351453T>G | CA391934226 | SPRED1 | c.1124T>G (p.Met375Arg) c.1160T>G (p.Met387Arg) c.902T>G (p.Met301Arg) c.1061T>G (p.Met354Arg) | |
| 15 | g.38351454G>A | CA391934227 | SPRED1 | c.1125G>A (p.Met375Ile) c.1161G>A (p.Met387Ile) c.903G>A (p.Met301Ile) c.1062G>A (p.Met354Ile) | ClinVar |
| 15 | g.38351454G>C | CA391934229 | SPRED1 | c.1125G>C (p.Met375Ile) c.1161G>C (p.Met387Ile) c.903G>C (p.Met301Ile) c.1062G>C (p.Met354Ile) | |
| 15 | g.38351454G= | CA2170812720 | SPRED1 | c.1125G= (p.Met375=) c.1161G= (p.Met387=) c.903G= (p.Met301=) c.1062G= (p.Met354=) | |
| 15 | g.38351454G>T | CA391934230 | SPRED1 | c.1125G>T (p.Met375Ile) c.1161G>T (p.Met387Ile) c.903G>T (p.Met301Ile) c.1062G>T (p.Met354Ile) | dbSNP |
| 15 | g.38351455T>A | CA391934232 | SPRED1 | c.1126T>A (p.Leu376Met) c.1162T>A (p.Leu388Met) c.904T>A (p.Leu302Met) c.1063T>A (p.Leu355Met) | |
| 15 | g.38351455T>C | CA490012235 | SPRED1 | c.1126T>C (p.Leu376=) c.1162T>C (p.Leu388=) c.904T>C (p.Leu302=) c.1063T>C (p.Leu355=) | |
| 15 | g.38351455T>G | CA391934234 | SPRED1 | c.1126T>G (p.Leu376Val) c.1162T>G (p.Leu388Val) c.904T>G (p.Leu302Val) c.1063T>G (p.Leu355Val) | |
| 15 | g.38351461_38351468del | CA2573150673 | SPRED1 | c.1132_1139del (p.His378ValfsTer9) c.1168_1175del (p.His390ValfsTer9) c.910_917del (p.His304ValfsTer9) c.1069_1076del (p.His357ValfsTer9) | ClinVar dbSNP |
| 15 | g.38351456T>A | CA391934235 | SPRED1 | c.1127T>A (p.Leu376Ter) c.1163T>A (p.Leu388Ter) c.905T>A (p.Leu302Ter) c.1064T>A (p.Leu355Ter) | |
| 15 | g.38351456T>C | CA391934237 | SPRED1 | c.1127T>C (p.Leu376Ser) c.1163T>C (p.Leu388Ser) c.905T>C (p.Leu302Ser) c.1064T>C (p.Leu355Ser) | |
| 15 | g.38351456T>G | CA391934239 | SPRED1 | c.1127T>G (p.Leu376Trp) c.1163T>G (p.Leu388Trp) c.905T>G (p.Leu302Trp) c.1064T>G (p.Leu355Trp) | |
| 15 | g.38351457G>A | CA490012239 | SPRED1 | c.1128G>A (p.Leu376=) c.1164G>A (p.Leu388=) c.906G>A (p.Leu302=) c.1065G>A (p.Leu355=) | |
| 15 | g.38351457G>C | CA391934241 | SPRED1 | c.1128G>C (p.Leu376Phe) c.1164G>C (p.Leu388Phe) c.906G>C (p.Leu302Phe) c.1065G>C (p.Leu355Phe) | |
| 15 | g.38351457G= | CA2170812721 | SPRED1 | c.1128G= (p.Leu376=) c.1164G= (p.Leu388=) c.906G= (p.Leu302=) c.1065G= (p.Leu355=) | |
| 15 | g.38351457G>T | CA7470233 | SPRED1 | c.1128G>T (p.Leu376Phe) c.1164G>T (p.Leu388Phe) c.906G>T (p.Leu302Phe) c.1065G>T (p.Leu355Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.38351458T>A | CA391934243 | SPRED1 | c.1129T>A (p.Tyr377Asn) c.1165T>A (p.Tyr389Asn) c.907T>A (p.Tyr303Asn) c.1066T>A (p.Tyr356Asn) | |
| 15 | g.38351458T>C | CA391934247 | SPRED1 | c.1129T>C (p.Tyr377His) c.1165T>C (p.Tyr389His) c.907T>C (p.Tyr303His) c.1066T>C (p.Tyr356His) | |
| 15 | g.38351458T>G | CA391934245 | SPRED1 | c.1129T>G (p.Tyr377Asp) c.1165T>G (p.Tyr389Asp) c.907T>G (p.Tyr303Asp) c.1066T>G (p.Tyr356Asp) | |
| 15 | g.38351459A>C | CA391934249 | SPRED1 | c.1130A>C (p.Tyr377Ser) c.1166A>C (p.Tyr389Ser) c.908A>C (p.Tyr303Ser) c.1067A>C (p.Tyr356Ser) | |
| 15 | g.38351459A>G | CA391934251 | SPRED1 | c.1130A>G (p.Tyr377Cys) c.1166A>G (p.Tyr389Cys) c.908A>G (p.Tyr303Cys) c.1067A>G (p.Tyr356Cys) | |
| 15 | g.38351459A>T | CA391934252 | SPRED1 | c.1130A>T (p.Tyr377Phe) c.1166A>T (p.Tyr389Phe) c.908A>T (p.Tyr303Phe) c.1067A>T (p.Tyr356Phe) | |
| 15 | g.38351460T>A | CA391934253 | SPRED1 | c.1131T>A (p.Tyr377Ter) c.1167T>A (p.Tyr389Ter) c.909T>A (p.Tyr303Ter) c.1068T>A (p.Tyr356Ter) | |
| 15 | g.38351460T>C | CA490012252 | SPRED1 | c.1131T>C (p.Tyr377=) c.1167T>C (p.Tyr389=) c.909T>C (p.Tyr303=) c.1068T>C (p.Tyr356=) | gnomAD v4 |
| 15 | g.38351460T>G | CA391934254 | SPRED1 | c.1131T>G (p.Tyr377Ter) c.1167T>G (p.Tyr389Ter) c.909T>G (p.Tyr303Ter) c.1068T>G (p.Tyr356Ter) | |
| 15 | g.38351461C>A | CA391934256 | SPRED1 | c.1132C>A (p.His378Asn) c.1168C>A (p.His390Asn) c.910C>A (p.His304Asn) c.1069C>A (p.His357Asn) | |
| 15 | g.38351461C>G | CA391934258 | SPRED1 | c.1132C>G (p.His378Asp) c.1168C>G (p.His390Asp) c.910C>G (p.His304Asp) c.1069C>G (p.His357Asp) | |
| 15 | g.38351461C>T | CA391934259 | SPRED1 | c.1132C>T (p.His378Tyr) c.1168C>T (p.His390Tyr) c.910C>T (p.His304Tyr) c.1069C>T (p.His357Tyr) | |
| 15 | g.38351462A>C | CA391934261 | SPRED1 | c.1133A>C (p.His378Pro) c.1169A>C (p.His390Pro) c.911A>C (p.His304Pro) c.1070A>C (p.His357Pro) | |
| 15 | g.38351462A>G | CA391934262 | SPRED1 | c.1133A>G (p.His378Arg) c.1169A>G (p.His390Arg) c.911A>G (p.His304Arg) c.1070A>G (p.His357Arg) | |
| 15 | g.38351462A>T | CA391934263 | SPRED1 | c.1133A>T (p.His378Leu) c.1169A>T (p.His390Leu) c.911A>T (p.His304Leu) c.1070A>T (p.His357Leu) | |
| 15 | g.38351463T>A | CA391934265 | SPRED1 | c.1134T>A (p.His378Gln) c.1170T>A (p.His390Gln) c.912T>A (p.His304Gln) c.1071T>A (p.His357Gln) | |
| 15 | g.38351463T>C | CA490012261 | SPRED1 | c.1134T>C (p.His378=) c.1170T>C (p.His390=) c.912T>C (p.His304=) c.1071T>C (p.His357=) | dbSNP |
| 15 | g.38351463T>G | CA391934266 | SPRED1 | c.1134T>G (p.His378Gln) c.1170T>G (p.His390Gln) c.912T>G (p.His304Gln) c.1071T>G (p.His357Gln) | |
| 15 | g.38351463T= | CA2170812722 | SPRED1 | c.1134T= (p.His378=) c.1170T= (p.His390=) c.912T= (p.His304=) c.1071T= (p.His357=) | |
| 15 | g.38351464T>A | CA391934268 | SPRED1 | c.1135T>A (p.Cys379Ser) c.1171T>A (p.Cys391Ser) c.913T>A (p.Cys305Ser) c.1072T>A (p.Cys358Ser) | |
| 15 | g.38351464T>C | CA391934271 | SPRED1 | c.1135T>C (p.Cys379Arg) c.1171T>C (p.Cys391Arg) c.913T>C (p.Cys305Arg) c.1072T>C (p.Cys358Arg) | |
| 15 | g.38351464T>G | CA391934270 | SPRED1 | c.1135T>G (p.Cys379Gly) c.1171T>G (p.Cys391Gly) c.913T>G (p.Cys305Gly) c.1072T>G (p.Cys358Gly) | |
| 15 | g.38351465G>A | CA391934272 | SPRED1 | c.1136G>A (p.Cys379Tyr) c.1172G>A (p.Cys391Tyr) c.914G>A (p.Cys305Tyr) c.1073G>A (p.Cys358Tyr) | |
| 15 | g.38351465G>C | CA391934274 | SPRED1 | c.1136G>C (p.Cys379Ser) c.1172G>C (p.Cys391Ser) c.914G>C (p.Cys305Ser) c.1073G>C (p.Cys358Ser) | |
| 15 | g.38351465G>T | CA391934276 | SPRED1 | c.1136G>T (p.Cys379Phe) c.1172G>T (p.Cys391Phe) c.914G>T (p.Cys305Phe) c.1073G>T (p.Cys358Phe) | gnomAD v4 |
| 15 | g.38351466T>A | CA391934277 | SPRED1 | c.1137T>A (p.Cys379Ter) c.1173T>A (p.Cys391Ter) c.915T>A (p.Cys305Ter) c.1074T>A (p.Cys358Ter) | |
| 15 | g.38351466T>C | CA490012264 | SPRED1 | c.1137T>C (p.Cys379=) c.1173T>C (p.Cys391=) c.915T>C (p.Cys305=) c.1074T>C (p.Cys358=) | |
| 15 | g.38351466T>G | CA391934279 | SPRED1 | c.1137T>G (p.Cys379Trp) c.1173T>G (p.Cys391Trp) c.915T>G (p.Cys305Trp) c.1074T>G (p.Cys358Trp) | |
| 15 | g.38351467A>C | CA391934280 | SPRED1 | c.1138A>C (p.Met380Leu) c.1174A>C (p.Met392Leu) c.916A>C (p.Met306Leu) c.1075A>C (p.Met359Leu) | |
| 15 | g.38351467A>G | CA391934281 | SPRED1 | c.1138A>G (p.Met380Val) c.1174A>G (p.Met392Val) c.916A>G (p.Met306Val) c.1075A>G (p.Met359Val) | |
| 15 | g.38351467A>T | CA391934283 | SPRED1 | c.1138A>T (p.Met380Leu) c.1174A>T (p.Met392Leu) c.916A>T (p.Met306Leu) c.1075A>T (p.Met359Leu) | |
| 15 | g.38351468T>A | CA391934285 | SPRED1 | c.1139T>A (p.Met380Lys) c.1175T>A (p.Met392Lys) c.917T>A (p.Met306Lys) c.1076T>A (p.Met359Lys) | |
| 15 | g.38351468T>C | CA391934286 | SPRED1 | c.1139T>C (p.Met380Thr) c.1175T>C (p.Met392Thr) c.917T>C (p.Met306Thr) c.1076T>C (p.Met359Thr) | |
| 15 | g.38351468T>G | CA391934287 | SPRED1 | c.1139T>G (p.Met380Arg) c.1175T>G (p.Met392Arg) c.917T>G (p.Met306Arg) c.1076T>G (p.Met359Arg) | |
| 15 | g.38351469G>A | CA391934292 | SPRED1 | c.1140G>A (p.Met380Ile) c.1176G>A (p.Met392Ile) c.918G>A (p.Met306Ile) c.1077G>A (p.Met359Ile) | dbSNP |
| 15 | g.38351469G>C | CA391934290 | SPRED1 | c.1140G>C (p.Met380Ile) c.1176G>C (p.Met392Ile) c.918G>C (p.Met306Ile) c.1077G>C (p.Met359Ile) | |
| 15 | g.38351469G= | CA2170812723 | SPRED1 | c.1140G= (p.Met380=) c.1176G= (p.Met392=) c.918G= (p.Met306=) c.1077G= (p.Met359=) | |
| 15 | g.38351469G>T | CA391934289 | SPRED1 | c.1140G>T (p.Met380Ile) c.1176G>T (p.Met392Ile) c.918G>T (p.Met306Ile) c.1077G>T (p.Met359Ile) | |
| 15 | g.38351470T>A | CA391934294 | SPRED1 | c.1141T>A (p.Ser381Thr) c.1177T>A (p.Ser393Thr) c.919T>A (p.Ser307Thr) c.1078T>A (p.Ser360Thr) | |
| 15 | g.38351470T>C | CA391934295 | SPRED1 | c.1141T>C (p.Ser381Pro) c.1177T>C (p.Ser393Pro) c.919T>C (p.Ser307Pro) c.1078T>C (p.Ser360Pro) | |
| 15 | g.38351470T>G | CA391934302 | SPRED1 | c.1141T>G (p.Ser381Ala) c.1177T>G (p.Ser393Ala) c.919T>G (p.Ser307Ala) c.1078T>G (p.Ser360Ala) | |
| 15 | g.38351471del | CA2739279996 | SPRED1 | c.1142del (p.Ser381Ter) c.1178del (p.Ser393Ter) c.920del (p.Ser307Ter) c.1079del (p.Ser360Ter) | ClinVar |
| 15 | g.38351471C>A | CA391934304 | SPRED1 | c.1142C>A (p.Ser381Ter) c.1178C>A (p.Ser393Ter) c.920C>A (p.Ser307Ter) c.1079C>A (p.Ser360Ter) | |
| 15 | g.38351471C>G | CA391934306 | SPRED1 | c.1142C>G (p.Ser381Ter) c.1178C>G (p.Ser393Ter) c.920C>G (p.Ser307Ter) c.1079C>G (p.Ser360Ter) | ClinVar |
| 15 | g.38351471C>T | CA391934308 | SPRED1 | c.1142C>T (p.Ser381Leu) c.1178C>T (p.Ser393Leu) c.920C>T (p.Ser307Leu) c.1079C>T (p.Ser360Leu) | |
| 15 | g.38351472A>C | CA490012281 | SPRED1 | c.1143A>C (p.Ser381=) c.1179A>C (p.Ser393=) c.921A>C (p.Ser307=) c.1080A>C (p.Ser360=) | ClinVar gnomAD v4 |
| 15 | g.38351472A>G | CA490012283 | SPRED1 | c.1143A>G (p.Ser381=) c.1179A>G (p.Ser393=) c.921A>G (p.Ser307=) c.1080A>G (p.Ser360=) | ClinVar |
| 15 | g.38351472A>T | CA490012278 | SPRED1 | c.1143A>T (p.Ser381=) c.1179A>T (p.Ser393=) c.921A>T (p.Ser307=) c.1080A>T (p.Ser360=) | |
| 15 | g.38351473G>A | CA391934310 | SPRED1 | c.1144G>A (p.Asp382Asn) c.1180G>A (p.Asp394Asn) c.922G>A (p.Asp308Asn) c.1081G>A (p.Asp361Asn) | |
| 15 | g.38351473G>C | CA391934312 | SPRED1 | c.1144G>C (p.Asp382His) c.1180G>C (p.Asp394His) c.922G>C (p.Asp308His) c.1081G>C (p.Asp361His) | |
| 15 | g.38351473G>T | CA391934313 | SPRED1 | c.1144G>T (p.Asp382Tyr) c.1180G>T (p.Asp394Tyr) c.922G>T (p.Asp308Tyr) c.1081G>T (p.Asp361Tyr) | |
| 15 | g.38351474A>C | CA391934315 | SPRED1 | c.1145A>C (p.Asp382Ala) c.1181A>C (p.Asp394Ala) c.923A>C (p.Asp308Ala) c.1082A>C (p.Asp361Ala) | |
| 15 | g.38351474A>G | CA391934316 | SPRED1 | c.1145A>G (p.Asp382Gly) c.1181A>G (p.Asp394Gly) c.923A>G (p.Asp308Gly) c.1082A>G (p.Asp361Gly) | |
| 15 | g.38351474A>T | CA391934318 | SPRED1 | c.1145A>T (p.Asp382Val) c.1181A>T (p.Asp394Val) c.923A>T (p.Asp308Val) c.1082A>T (p.Asp361Val) | ClinVar |
| 15 | g.38351475C>A | CA391934321 | SPRED1 | c.1146C>A (p.Asp382Glu) c.1182C>A (p.Asp394Glu) c.924C>A (p.Asp308Glu) c.1083C>A (p.Asp361Glu) | |
| 15 | g.38351475C= | CA2170812724 | SPRED1 | c.1146C= (p.Asp382=) c.1182C= (p.Asp394=) c.924C= (p.Asp308=) c.1083C= (p.Asp361=) | |
| 15 | g.38351475C>G | CA391934322 | SPRED1 | c.1146C>G (p.Asp382Glu) c.1182C>G (p.Asp394Glu) c.924C>G (p.Asp308Glu) c.1083C>G (p.Asp361Glu) | |
| 15 | g.38351475C>T | CA490012290 | SPRED1 | c.1146C>T (p.Asp382=) c.1182C>T (p.Asp394=) c.924C>T (p.Asp308=) c.1083C>T (p.Asp361=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.38351476T>A | CA391934324 | SPRED1 | c.1147T>A (p.Ser383Thr) c.1183T>A (p.Ser395Thr) c.925T>A (p.Ser309Thr) c.1084T>A (p.Ser362Thr) | |
| 15 | g.38351476T>C | CA7470234 | SPRED1 | c.1147T>C (p.Ser383Pro) c.1183T>C (p.Ser395Pro) c.925T>C (p.Ser309Pro) c.1084T>C (p.Ser362Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.38351476T>G | CA391934327 | SPRED1 | c.1147T>G (p.Ser383Ala) c.1183T>G (p.Ser395Ala) c.925T>G (p.Ser309Ala) c.1084T>G (p.Ser362Ala) | |
| 15 | g.38351476T= | CA2170812725 | SPRED1 | c.1147T= (p.Ser383=) c.1183T= (p.Ser395=) c.925T= (p.Ser309=) c.1084T= (p.Ser362=) | |
| 15 | g.38351477C>A | CA391934328 | SPRED1 | c.1148C>A (p.Ser383Ter) c.1184C>A (p.Ser395Ter) c.926C>A (p.Ser309Ter) c.1085C>A (p.Ser362Ter) | |
| 15 | g.38351477C>G | CA391934329 | SPRED1 | c.1148C>G (p.Ser383Ter) c.1184C>G (p.Ser395Ter) c.926C>G (p.Ser309Ter) c.1085C>G (p.Ser362Ter) | |
| 15 | g.38351477C>T | CA391934331 | SPRED1 | c.1148C>T (p.Ser383Leu) c.1184C>T (p.Ser395Leu) c.926C>T (p.Ser309Leu) c.1085C>T (p.Ser362Leu) | |
| 15 | g.38351477_38351479delinsCAG | CA2170812726 | SPRED1 | c.1148_1150delinsCAG (p.Ser383=) c.1184_1186delinsCAG (p.Ser395=) c.926_928delinsCAG (p.Ser309=) c.1085_1087delinsCAG (p.Ser362=) | |
| 15 | g.38351477_38351481delinsCAGAG | CA2170812727 | SPRED1 | c.1148_1152delinsCAGAG (p.Ser383=) c.1184_1188delinsCAGAG (p.Ser395=) c.926_930delinsCAGAG (p.Ser309=) c.1085_1089delinsCAGAG (p.Ser362=) | |
| 15 | g.38351478A>C | CA490012300 | SPRED1 | c.1149A>C (p.Ser383=) c.1185A>C (p.Ser395=) c.927A>C (p.Ser309=) c.1086A>C (p.Ser362=) | gnomAD v4 |
| 15 | g.38351478A>G | CA490012303 | SPRED1 | c.1149A>G (p.Ser383=) c.1185A>G (p.Ser395=) c.927A>G (p.Ser309=) c.1086A>G (p.Ser362=) | |
| 15 | g.38351478A>T | CA490012306 | SPRED1 | c.1149A>T (p.Ser383=) c.1185A>T (p.Ser395=) c.927A>T (p.Ser309=) c.1086A>T (p.Ser362=) | |
| 15 | g.38351478_38351479delinsAG | CA2170812728 | SPRED1 | c.1149_1150delinsAG (p.Ser383=) c.1185_1186delinsAG (p.Ser395=) c.927_928delinsAG (p.Ser309=) c.1086_1087delinsAG (p.Ser362=) | |
| 15 | g.38351478_38351481del | CA658761255 | SPRED1 | c.1149_1152del (p.Gly385IlefsTer20) c.1185_1188del (p.Gly397IlefsTer20) c.927_930del (p.Gly311IlefsTer20) c.1086_1089del (p.Gly364IlefsTer20) | ClinVar dbSNP gnomAD v4 |
| 15 | g.38351480_38351481del | CA10583236 | SPRED1 | c.1151_1152del (p.Glu384GlyfsTer5) c.1187_1188del (p.Glu396GlyfsTer5) c.929_930del (p.Glu310GlyfsTer5) c.1088_1089del (p.Glu363GlyfsTer5) | ClinVar dbSNP gnomAD v4 |