UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.46901412A>C | CA352501028 | PTH1R | c.1050-2A>C (n.1050-2A>C) c.989-2A>C (n.989-2A>C) c.957-2A>C (n.957-2A>C) c.1089-2A>C (n.1089-2A>C) c.1071-2A>C (n.1071-2A>C) | |
| 3 | g.46901412A>G | CA352501034 | PTH1R | c.1050-2A>G (n.1050-2A>G) c.989-2A>G (n.989-2A>G) c.957-2A>G (n.957-2A>G) c.1089-2A>G (n.1089-2A>G) c.1071-2A>G (n.1071-2A>G) | gnomAD v4 |
| 3 | g.46901412A>T | CA352501036 | PTH1R | c.1050-2A>T (n.1050-2A>T) c.989-2A>T (n.989-2A>T) c.957-2A>T (n.957-2A>T) c.1089-2A>T (n.1089-2A>T) c.1071-2A>T (n.1071-2A>T) | |
| 3 | g.46901413G>A | CA352501039 | PTH1R | c.1050-1G>A (n.1050-1G>A) c.989-1G>A (n.989-1G>A) c.957-1G>A (n.957-1G>A) c.1089-1G>A (n.1089-1G>A) c.1071-1G>A (n.1071-1G>A) | gnomAD v4 |
| 3 | g.46901413G>C | CA352501046 | PTH1R | c.1050-1G>C (n.1050-1G>C) c.989-1G>C (n.989-1G>C) c.957-1G>C (n.957-1G>C) c.1089-1G>C (n.1089-1G>C) c.1071-1G>C (n.1071-1G>C) | |
| 3 | g.46901413G= | CA1362316657 | PTH1R | c.1050-1G= (n.1050-1G=) c.989-1G= (n.989-1G=) c.957-1G= (n.957-1G=) c.1089-1G= (n.1089-1G=) c.1071-1G= (n.1071-1G=) | |
| 3 | g.46901413G>T | CA73771598 | PTH1R | c.1050-1G>T (n.1050-1G>T) c.989-1G>T (n.989-1G>T) c.957-1G>T (n.957-1G>T) c.1089-1G>T (n.1089-1G>T) c.1071-1G>T (n.1071-1G>T) | dbSNP gnomAD v4 |
| 3 | g.46901414G>A | CA433474302 | PTH1R | c.1050G>A (p.Gly350=) c.989G>A (p.Gly330Asp) c.957G>A (p.Gly319=) c.1089G>A (p.Gly363=) c.1071G>A (p.Gly357=) | gnomAD v4 |
| 3 | g.46901414G>C | CA433474303 | PTH1R | c.1050G>C (p.Gly350=) c.989G>C (p.Gly330Ala) c.957G>C (p.Gly319=) c.1089G>C (p.Gly363=) c.1071G>C (p.Gly357=) | |
| 3 | g.46901414G>T | CA433474304 | PTH1R | c.1050G>T (p.Gly350=) c.989G>T (p.Gly330Val) c.957G>T (p.Gly319=) c.1089G>T (p.Gly363=) c.1071G>T (p.Gly357=) | |
| 3 | g.46901415T>A | CA352501049 | PTH1R | c.1051T>A (p.Cys351Ser) c.990T>A (p.Gly330=) c.958T>A (p.Cys320Ser) c.1090T>A (p.Cys364Ser) c.1072T>A (p.Cys358Ser) | |
| 3 | g.46901415T>C | CA352501052 | PTH1R | c.1051T>C (p.Cys351Arg) c.990T>C (p.Gly330=) c.958T>C (p.Cys320Arg) c.1090T>C (p.Cys364Arg) c.1072T>C (p.Cys358Arg) | gnomAD v4 |
| 3 | g.46901415T>G | CA352501054 | PTH1R | c.1051T>G (p.Cys351Gly) c.990T>G (p.Gly330=) c.958T>G (p.Cys320Gly) c.1090T>G (p.Cys364Gly) c.1072T>G (p.Cys358Gly) | |
| 3 | g.46901416G>A | CA352501066 | PTH1R | c.1052G>A (p.Cys351Tyr) c.991G>A (p.Ala331Thr) c.959G>A (p.Cys320Tyr) c.1091G>A (p.Cys364Tyr) c.1073G>A (p.Cys358Tyr) | gnomAD v4 |
| 3 | g.46901416G>C | CA352501062 | PTH1R | c.1052G>C (p.Cys351Ser) c.991G>C (p.Ala331Pro) c.959G>C (p.Cys320Ser) c.1091G>C (p.Cys364Ser) c.1073G>C (p.Cys358Ser) | |
| 3 | g.46901416G>T | CA352501060 | PTH1R | c.1052G>T (p.Cys351Phe) c.991G>T (p.Ala331Ser) c.959G>T (p.Cys320Phe) c.1091G>T (p.Cys364Phe) c.1073G>T (p.Cys358Phe) | gnomAD v4 |
| 3 | g.46901417C>A | CA352501067 | PTH1R | c.1053C>A (p.Cys351Ter) c.992C>A (p.Ala331Asp) c.960C>A (p.Cys320Ter) c.1092C>A (p.Cys364Ter) c.1074C>A (p.Cys358Ter) | gnomAD v4 |
| 3 | g.46901417C>G | CA352501068 | PTH1R | c.1053C>G (p.Cys351Trp) c.992C>G (p.Ala331Gly) c.960C>G (p.Cys320Trp) c.1092C>G (p.Cys364Trp) c.1074C>G (p.Cys358Trp) | |
| 3 | g.46901417C>T | CA433474305 | PTH1R | c.1053C>T (p.Cys351=) c.992C>T (p.Ala331Val) c.960C>T (p.Cys320=) c.1092C>T (p.Cys364=) c.1074C>T (p.Cys358=) | |
| 3 | g.46901418T>A | CA352501071 | PTH1R | c.1054T>A (p.Trp352Arg) c.993T>A (p.Ala331=) c.961T>A (p.Trp321Arg) c.1093T>A (p.Trp365Arg) c.1075T>A (p.Trp359Arg) | gnomAD v4 |
| 3 | g.46901418T>C | CA352501073 | PTH1R | c.1054T>C (p.Trp352Arg) c.993T>C (p.Ala331=) c.961T>C (p.Trp321Arg) c.1093T>C (p.Trp365Arg) c.1075T>C (p.Trp359Arg) | |
| 3 | g.46901418T>G | CA352501091 | PTH1R | c.1054T>G (p.Trp352Gly) c.993T>G (p.Ala331=) c.961T>G (p.Trp321Gly) c.1093T>G (p.Trp365Gly) c.1075T>G (p.Trp359Gly) | |
| 3 | g.46901419G>A | CA73771607 | PTH1R | c.1055G>A (p.Trp352Ter) c.994G>A (p.Gly332Arg) c.962G>A (p.Trp321Ter) c.1094G>A (p.Trp365Ter) c.1076G>A (p.Trp359Ter) | dbSNP |
| 3 | g.46901419G>C | CA352501095 | PTH1R | c.1055G>C (p.Trp352Ser) c.994G>C (p.Gly332Arg) c.962G>C (p.Trp321Ser) c.1094G>C (p.Trp365Ser) c.1076G>C (p.Trp359Ser) | |
| 3 | g.46901419G= | CA1362316658 | PTH1R | c.1055G= (p.Trp352=) c.994G= (p.Gly332=) c.962G= (p.Trp321=) c.1094G= (p.Trp365=) c.1076G= (p.Trp359=) | |
| 3 | g.46901419G>T | CA352501096 | PTH1R | c.1055G>T (p.Trp352Leu) c.994G>T (p.Gly332Trp) c.962G>T (p.Trp321Leu) c.1094G>T (p.Trp365Leu) c.1076G>T (p.Trp359Leu) | gnomAD v4 |
| 3 | g.46901420G>A | CA352501097 | PTH1R | c.1056G>A (p.Trp352Ter) c.995G>A (p.Gly332Glu) c.963G>A (p.Trp321Ter) c.1095G>A (p.Trp365Ter) c.1077G>A (p.Trp359Ter) | gnomAD v4 |
| 3 | g.46901420G>C | CA352501099 | PTH1R | c.1056G>C (p.Trp352Cys) c.995G>C (p.Gly332Ala) c.963G>C (p.Trp321Cys) c.1095G>C (p.Trp365Cys) c.1077G>C (p.Trp359Cys) | |
| 3 | g.46901420G>T | CA352501102 | PTH1R | c.1056G>T (p.Trp352Cys) c.995G>T (p.Gly332Val) c.963G>T (p.Trp321Cys) c.1095G>T (p.Trp365Cys) c.1077G>T (p.Trp359Cys) | |
| 3 | g.46901421G>A | CA352501103 | PTH1R | c.1057G>A (p.Asp353Asn) c.996G>A (p.Gly332=) c.964G>A (p.Asp322Asn) c.1096G>A (p.Asp366Asn) c.1078G>A (p.Asp360Asn) | |
| 3 | g.46901421G>C | CA352501104 | PTH1R | c.1057G>C (p.Asp353His) c.996G>C (p.Gly332=) c.964G>C (p.Asp322His) c.1096G>C (p.Asp366His) c.1078G>C (p.Asp360His) | |
| 3 | g.46901421G>T | CA352501105 | PTH1R | c.1057G>T (p.Asp353Tyr) c.996G>T (p.Gly332=) c.964G>T (p.Asp322Tyr) c.1096G>T (p.Asp366Tyr) c.1078G>T (p.Asp360Tyr) | gnomAD v4 |
| 3 | g.46901422A= | CA1362316659 | PTH1R | c.1058A= (p.Asp353=) c.997A= (p.Thr333=) c.965A= (p.Asp322=) c.1097A= (p.Asp366=) c.1079A= (p.Asp360=) | |
| 3 | g.46901422A>C | CA352501116 | PTH1R | c.1058A>C (p.Asp353Ala) c.997A>C (p.Thr333Pro) c.965A>C (p.Asp322Ala) c.1097A>C (p.Asp366Ala) c.1079A>C (p.Asp360Ala) | |
| 3 | g.46901422A>G | CA352501117 | PTH1R | c.1058A>G (p.Asp353Gly) c.997A>G (p.Thr333Ala) c.965A>G (p.Asp322Gly) c.1097A>G (p.Asp366Gly) c.1079A>G (p.Asp360Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.46901422A>T | CA352501114 | PTH1R | c.1058A>T (p.Asp353Val) c.997A>T (p.Thr333Ser) c.965A>T (p.Asp322Val) c.1097A>T (p.Asp366Val) c.1079A>T (p.Asp360Val) | gnomAD v4 |
| 3 | g.46901423C>A | CA352501119 | PTH1R | c.1059C>A (p.Asp353Glu) c.998C>A (p.Thr333Asn) c.966C>A (p.Asp322Glu) c.1098C>A (p.Asp366Glu) c.1080C>A (p.Asp360Glu) | gnomAD v4 |
| 3 | g.46901423C>G | CA352501121 | PTH1R | c.1059C>G (p.Asp353Glu) c.998C>G (p.Thr333Ser) c.966C>G (p.Asp322Glu) c.1098C>G (p.Asp366Glu) c.1080C>G (p.Asp360Glu) | |
| 3 | g.46901423C>T | CA433474306 | PTH1R | c.1059C>T (p.Asp353=) c.998C>T (p.Thr333Ile) c.966C>T (p.Asp322=) c.1098C>T (p.Asp366=) c.1080C>T (p.Asp360=) | gnomAD v4 |
| 3 | g.46901424T>A | CA352501123 | PTH1R | c.1060T>A (p.Leu354Met) c.999T>A (p.Thr333=) c.967T>A (p.Leu323Met) c.1099T>A (p.Leu367Met) c.1081T>A (p.Leu361Met) | |
| 3 | g.46901424T>C | CA433474307 | PTH1R | c.1060T>C (p.Leu354=) c.999T>C (p.Thr333=) c.967T>C (p.Leu323=) c.1099T>C (p.Leu367=) c.1081T>C (p.Leu361=) | dbSNP |
| 3 | g.46901424T>G | CA352501124 | PTH1R | c.1060T>G (p.Leu354Val) c.999T>G (p.Thr333=) c.967T>G (p.Leu323Val) c.1099T>G (p.Leu367Val) c.1081T>G (p.Leu361Val) | |
| 3 | g.46901424T= | CA1362316660 | PTH1R | c.1060T= (p.Leu354=) c.999T= (p.Thr333=) c.967T= (p.Leu323=) c.1099T= (p.Leu367=) c.1081T= (p.Leu361=) | |
| 3 | g.46901425T>A | CA352501125 | PTH1R | c.1061T>A (p.Leu354Ter) c.1000T>A (p.Ter334Arg) c.968T>A (p.Leu323Ter) c.1100T>A (p.Leu367Ter) c.1082T>A (p.Leu361Ter) | |
| 3 | g.46901425T>C | CA352501126 | PTH1R | c.1061T>C (p.Leu354Ser) c.1000T>C (p.Ter334Arg) c.968T>C (p.Leu323Ser) c.1100T>C (p.Leu367Ser) c.1082T>C (p.Leu361Ser) | |
| 3 | g.46901425T>G | CA352501128 | PTH1R | c.1061T>G (p.Leu354Trp) c.1000T>G (p.Ter334Gly) c.968T>G (p.Leu323Trp) c.1100T>G (p.Leu367Trp) c.1082T>G (p.Leu361Trp) | gnomAD v4 |
| 3 | g.46901426G>A | CA433474308 | PTH1R | c.1062G>A (p.Leu354=) c.1001G>A (p.Ter334=) c.969G>A (p.Leu323=) c.1101G>A (p.Leu367=) c.1083G>A (p.Leu361=) | |
| 3 | g.46901426G>C | CA352501130 | PTH1R | c.1062G>C (p.Leu354Phe) c.1001G>C (p.Ter334Ser) c.969G>C (p.Leu323Phe) c.1101G>C (p.Leu367Phe) c.1083G>C (p.Leu361Phe) | |
| 3 | g.46901426G>T | CA352501131 | PTH1R | c.1062G>T (p.Leu354Phe) c.1001G>T (p.Ter334Leu) c.969G>T (p.Leu323Phe) c.1101G>T (p.Leu367Phe) c.1083G>T (p.Leu361Phe) | gnomAD v4 |
| 3 | g.46901427A= | CA1362316661 | PTH1R | c.1063A= (p.Ser355=) c.1002A= (p.Ter334=) c.970A= (p.Ser324=) c.1102A= (p.Ser368=) c.1084A= (p.Ser362=) | |
| 3 | g.46901427A>C | CA352501132 | PTH1R | c.1063A>C (p.Ser355Arg) c.1002A>C (p.Ter334Cys) c.970A>C (p.Ser324Arg) c.1102A>C (p.Ser368Arg) c.1084A>C (p.Ser362Arg) | |
| 3 | g.46901427A>G | CA73771610 | PTH1R | c.1063A>G (p.Ser355Gly) c.1002A>G (p.Ter334Trp) c.970A>G (p.Ser324Gly) c.1102A>G (p.Ser368Gly) c.1084A>G (p.Ser362Gly) | dbSNP gnomAD v4 |
| 3 | g.46901427A>T | CA352501135 | PTH1R | c.1063A>T (p.Ser355Cys) c.1002A>T (p.Ter334Cys) c.970A>T (p.Ser324Cys) c.1102A>T (p.Ser368Cys) c.1084A>T (p.Ser362Cys) | gnomAD v4 |
| 3 | g.46901428G>A | CA352501141 | PTH1R | c.1064G>A (p.Ser355Asn) c.*1G>A (n.*1G>A) c.971G>A (p.Ser324Asn) c.1103G>A (p.Ser368Asn) c.1085G>A (p.Ser362Asn) | gnomAD v4 |
| 3 | g.46901428G>C | CA352501140 | PTH1R | c.1064G>C (p.Ser355Thr) c.*1G>C (n.*1G>C) c.971G>C (p.Ser324Thr) c.1103G>C (p.Ser368Thr) c.1085G>C (p.Ser362Thr) | |
| 3 | g.46901428G>T | CA352501138 | PTH1R | c.1064G>T (p.Ser355Ile) c.*1G>T (n.*1G>T) c.971G>T (p.Ser324Ile) c.1103G>T (p.Ser368Ile) c.1085G>T (p.Ser362Ile) | gnomAD v4 |
| 3 | g.46901429C>A | CA352501143 | PTH1R | c.1065C>A (p.Ser355Arg) c.*2C>A (n.*2C>A) c.972C>A (p.Ser324Arg) c.1104C>A (p.Ser368Arg) c.1086C>A (p.Ser362Arg) | gnomAD v4 |
| 3 | g.46901429C>G | CA352501145 | PTH1R | c.1065C>G (p.Ser355Arg) c.*2C>G (n.*2C>G) c.972C>G (p.Ser324Arg) c.1104C>G (p.Ser368Arg) c.1086C>G (p.Ser362Arg) | |
| 3 | g.46901429C>T | CA433474309 | PTH1R | c.1065C>T (p.Ser355=) c.*2C>T (n.*2C>T) c.972C>T (p.Ser324=) c.1104C>T (p.Ser368=) c.1086C>T (p.Ser362=) | gnomAD v4 |
| 3 | g.46901430T>A | CA352501148 | PTH1R | c.1066T>A (p.Ser356Thr) c.*3T>A (n.*3T>A) c.973T>A (p.Ser325Thr) c.1105T>A (p.Ser369Thr) c.1087T>A (p.Ser363Thr) | |
| 3 | g.46901430T>C | CA352501150 | PTH1R | c.1066T>C (p.Ser356Pro) c.*3T>C (n.*3T>C) c.973T>C (p.Ser325Pro) c.1105T>C (p.Ser369Pro) c.1087T>C (p.Ser363Pro) | |
| 3 | g.46901430T>G | CA352501153 | PTH1R | c.1066T>G (p.Ser356Ala) c.*3T>G (n.*3T>G) c.973T>G (p.Ser325Ala) c.1105T>G (p.Ser369Ala) c.1087T>G (p.Ser363Ala) | |
| 3 | g.46901431C>A | CA352501154 | PTH1R | c.1067C>A (p.Ser356Tyr) c.*4C>A (n.*4C>A) c.974C>A (p.Ser325Tyr) c.1106C>A (p.Ser369Tyr) c.1088C>A (p.Ser363Tyr) | gnomAD v4 |
| 3 | g.46901431C= | CA1362316662 | PTH1R | c.1067C= (p.Ser356=) c.*4C= (n.*4C=) c.974C= (p.Ser325=) c.1106C= (p.Ser369=) c.1088C= (p.Ser363=) | |
| 3 | g.46901431C>G | CA352501155 | PTH1R | c.1067C>G (p.Ser356Cys) c.*4C>G (n.*4C>G) c.974C>G (p.Ser325Cys) c.1106C>G (p.Ser369Cys) c.1088C>G (p.Ser363Cys) | gnomAD v4 |
| 3 | g.46901431C>T | CA352501158 | PTH1R | c.1067C>T (p.Ser356Phe) c.*4C>T (n.*4C>T) c.974C>T (p.Ser325Phe) c.1106C>T (p.Ser369Phe) c.1088C>T (p.Ser363Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.46901432C>A | CA433474310 | PTH1R | c.1068C>A (p.Ser356=) c.*5C>A (n.*5C>A) c.975C>A (p.Ser325=) c.1107C>A (p.Ser369=) c.1089C>A (p.Ser363=) | gnomAD v4 |
| 3 | g.46901432C= | CA1362316663 | PTH1R | c.1068C= (p.Ser356=) c.*5C= (n.*5C=) c.975C= (p.Ser325=) c.1107C= (p.Ser369=) c.1089C= (p.Ser363=) | |
| 3 | g.46901432C>G | CA433474311 | PTH1R | c.1068C>G (p.Ser356=) c.*5C>G (n.*5C>G) c.975C>G (p.Ser325=) c.1107C>G (p.Ser369=) c.1089C>G (p.Ser363=) | |
| 3 | g.46901432C>T | CA2359398 | PTH1R | c.1068C>T (p.Ser356=) c.*5C>T (n.*5C>T) c.975C>T (p.Ser325=) c.1107C>T (p.Ser369=) c.1089C>T (p.Ser363=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.46901433G>A | CA73771615 | PTH1R | c.1069G>A (p.Gly357Arg) c.*6G>A (n.*6G>A) c.976G>A (p.Gly326Arg) c.1108G>A (p.Gly370Arg) c.1090G>A (p.Gly364Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.46901433G>C | CA352501159 | PTH1R | c.1069G>C (p.Gly357Arg) c.*6G>C (n.*6G>C) c.976G>C (p.Gly326Arg) c.1108G>C (p.Gly370Arg) c.1090G>C (p.Gly364Arg) | gnomAD v4 |
| 3 | g.46901433G= | CA1362316664 | PTH1R | c.1069G= (p.Gly357=) c.*6G= (n.*6G=) c.976G= (p.Gly326=) c.1108G= (p.Gly370=) c.1090G= (p.Gly364=) | |
| 3 | g.46901433G>T | CA352501162 | PTH1R | c.1069G>T (p.Gly357Trp) c.*6G>T (n.*6G>T) c.976G>T (p.Gly326Trp) c.1108G>T (p.Gly370Trp) c.1090G>T (p.Gly364Trp) | gnomAD v4 |
| 3 | g.46901434G>A | CA352501166 | PTH1R | c.1070G>A (p.Gly357Glu) c.*7G>A (n.*7G>A) c.977G>A (p.Gly326Glu) c.1109G>A (p.Gly370Glu) c.1091G>A (p.Gly364Glu) | gnomAD v4 |
| 3 | g.46901434G>C | CA352501169 | PTH1R | c.1070G>C (p.Gly357Ala) c.*7G>C (n.*7G>C) c.977G>C (p.Gly326Ala) c.1109G>C (p.Gly370Ala) c.1091G>C (p.Gly364Ala) | gnomAD v4 |
| 3 | g.46901434G>T | CA352501168 | PTH1R | c.1070G>T (p.Gly357Val) c.*7G>T (n.*7G>T) c.977G>T (p.Gly326Val) c.1109G>T (p.Gly370Val) c.1091G>T (p.Gly364Val) | gnomAD v4 |
| 3 | g.46901435G>A | CA433474312 | PTH1R | c.1071G>A (p.Gly357=) c.*8G>A (n.*8G>A) c.978G>A (p.Gly326=) c.1110G>A (p.Gly370=) c.1092G>A (p.Gly364=) | gnomAD v4 |
| 3 | g.46901435G>C | CA433474313 | PTH1R | c.1071G>C (p.Gly357=) c.*8G>C (n.*8G>C) c.978G>C (p.Gly326=) c.1110G>C (p.Gly370=) c.1092G>C (p.Gly364=) | gnomAD v4 |
| 3 | g.46901435G>T | CA433474314 | PTH1R | c.1071G>T (p.Gly357=) c.*8G>T (n.*8G>T) c.978G>T (p.Gly326=) c.1110G>T (p.Gly370=) c.1092G>T (p.Gly364=) | gnomAD v4 |
| 3 | g.46901436A= | CA1362316665 | PTH1R | c.1072A= (p.Asn358=) c.*9A= (n.*9A=) c.979A= (p.Asn327=) c.1111A= (p.Asn371=) c.1093A= (p.Asn365=) | |
| 3 | g.46901436A>C | CA352501172 | PTH1R | c.1072A>C (p.Asn358His) c.*9A>C (n.*9A>C) c.979A>C (p.Asn327His) c.1111A>C (p.Asn371His) c.1093A>C (p.Asn365His) | |
| 3 | g.46901436A>G | CA352501177 | PTH1R | c.1072A>G (p.Asn358Asp) c.*9A>G (n.*9A>G) c.979A>G (p.Asn327Asp) c.1111A>G (p.Asn371Asp) c.1093A>G (p.Asn365Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.46901436A>T | CA352501175 | PTH1R | c.1072A>T (p.Asn358Tyr) c.*9A>T (n.*9A>T) c.979A>T (p.Asn327Tyr) c.1111A>T (p.Asn371Tyr) c.1093A>T (p.Asn365Tyr) | |
| 3 | g.46901437A= | CA1362316666 | PTH1R | c.1073A= (p.Asn358=) c.*10A= (n.*10A=) c.980A= (p.Asn327=) c.1112A= (p.Asn371=) c.1094A= (p.Asn365=) | |
| 3 | g.46901437A>C | CA352501180 | PTH1R | c.1073A>C (p.Asn358Thr) c.*10A>C (n.*10A>C) c.980A>C (p.Asn327Thr) c.1112A>C (p.Asn371Thr) c.1094A>C (p.Asn365Thr) | |
| 3 | g.46901437A>G | CA352501184 | PTH1R | c.1073A>G (p.Asn358Ser) c.*10A>G (n.*10A>G) c.980A>G (p.Asn327Ser) c.1112A>G (p.Asn371Ser) c.1094A>G (p.Asn365Ser) | |
| 3 | g.46901437A>T | CA73771618 | PTH1R | c.1073A>T (p.Asn358Ile) c.*10A>T (n.*10A>T) c.980A>T (p.Asn327Ile) c.1112A>T (p.Asn371Ile) c.1094A>T (p.Asn365Ile) | dbSNP gnomAD v4 |
| 3 | g.46901438C>A | CA352501186 | PTH1R | c.1074C>A (p.Asn358Lys) c.*11C>A (n.*11C>A) c.981C>A (p.Asn327Lys) c.1113C>A (p.Asn371Lys) c.1095C>A (p.Asn365Lys) | gnomAD v4 |
| 3 | g.46901438C>G | CA352501187 | PTH1R | c.1074C>G (p.Asn358Lys) c.*11C>G (n.*11C>G) c.981C>G (p.Asn327Lys) c.1113C>G (p.Asn371Lys) c.1095C>G (p.Asn365Lys) | |
| 3 | g.46901438C>T | CA433474315 | PTH1R | c.1074C>T (p.Asn358=) c.*11C>T (n.*11C>T) c.981C>T (p.Asn327=) c.1113C>T (p.Asn371=) c.1095C>T (p.Asn365=) | gnomAD v4 |
| 3 | g.46901439A>C | CA352501188 | PTH1R | c.1075A>C (p.Lys359Gln) c.*12A>C (n.*12A>C) c.982A>C (p.Lys328Gln) c.1114A>C (p.Lys372Gln) c.1096A>C (p.Lys366Gln) | |
| 3 | g.46901439A>G | CA352501189 | PTH1R | c.1075A>G (p.Lys359Glu) c.*12A>G (n.*12A>G) c.982A>G (p.Lys328Glu) c.1114A>G (p.Lys372Glu) c.1096A>G (p.Lys366Glu) | |
| 3 | g.46901439A>T | CA352501192 | PTH1R | c.1075A>T (p.Lys359Ter) c.*12A>T (n.*12A>T) c.982A>T (p.Lys328Ter) c.1114A>T (p.Lys372Ter) c.1096A>T (p.Lys366Ter) | |
| 3 | g.46901440A>C | CA352501193 | PTH1R | c.1076A>C (p.Lys359Thr) c.*13A>C (n.*13A>C) c.983A>C (p.Lys328Thr) c.1115A>C (p.Lys372Thr) c.1097A>C (p.Lys366Thr) | |
| 3 | g.46901440A>G | CA352501194 | PTH1R | c.1076A>G (p.Lys359Arg) c.*13A>G (n.*13A>G) c.983A>G (p.Lys328Arg) c.1115A>G (p.Lys372Arg) c.1097A>G (p.Lys366Arg) | gnomAD v4 |
| 3 | g.46901440A>T | CA352501195 | PTH1R | c.1076A>T (p.Lys359Ile) c.*13A>T (n.*13A>T) c.983A>T (p.Lys328Ile) c.1115A>T (p.Lys372Ile) c.1097A>T (p.Lys366Ile) | |
| 3 | g.46901441A= | CA1362316667 | PTH1R | c.1077A= (p.Lys359=) c.*14A= (n.*14A=) c.984A= (p.Lys328=) c.1116A= (p.Lys372=) c.1098A= (p.Lys366=) | |
| 3 | g.46901441A>C | CA352501196 | PTH1R | c.1077A>C (p.Lys359Asn) c.*14A>C (n.*14A>C) c.984A>C (p.Lys328Asn) c.1116A>C (p.Lys372Asn) c.1098A>C (p.Lys366Asn) | |
| 3 | g.46901441A>G | CA433474316 | PTH1R | c.1077A>G (p.Lys359=) c.*14A>G (n.*14A>G) c.984A>G (p.Lys328=) c.1116A>G (p.Lys372=) c.1098A>G (p.Lys366=) | dbSNP gnomAD v4 |
| 3 | g.46901441A>T | CA352501198 | PTH1R | c.1077A>T (p.Lys359Asn) c.*14A>T (n.*14A>T) c.984A>T (p.Lys328Asn) c.1116A>T (p.Lys372Asn) c.1098A>T (p.Lys366Asn) | |
| 3 | g.46901442A>C | CA352501203 | PTH1R | c.1078A>C (p.Lys360Gln) c.*15A>C (n.*15A>C) c.985A>C (p.Lys329Gln) c.1117A>C (p.Lys373Gln) c.1099A>C (p.Lys367Gln) | |
| 3 | g.46901442A>G | CA352501201 | PTH1R | c.1078A>G (p.Lys360Glu) c.*15A>G (n.*15A>G) c.985A>G (p.Lys329Glu) c.1117A>G (p.Lys373Glu) c.1099A>G (p.Lys367Glu) | gnomAD v4 |
| 3 | g.46901442A>T | CA352501200 | PTH1R | c.1078A>T (p.Lys360Ter) c.*15A>T (n.*15A>T) c.985A>T (p.Lys329Ter) c.1117A>T (p.Lys373Ter) c.1099A>T (p.Lys367Ter) | gnomAD v4 |
| 3 | g.46901443A>C | CA352501205 | PTH1R | c.1079A>C (p.Lys360Thr) c.*16A>C (n.*16A>C) c.986A>C (p.Lys329Thr) c.1118A>C (p.Lys373Thr) c.1100A>C (p.Lys367Thr) | |
| 3 | g.46901443A>G | CA352501208 | PTH1R | c.1079A>G (p.Lys360Arg) c.*16A>G (n.*16A>G) c.986A>G (p.Lys329Arg) c.1118A>G (p.Lys373Arg) c.1100A>G (p.Lys367Arg) | gnomAD v4 |
| 3 | g.46901443A>T | CA352501210 | PTH1R | c.1079A>T (p.Lys360Met) c.*16A>T (n.*16A>T) c.986A>T (p.Lys329Met) c.1118A>T (p.Lys373Met) c.1100A>T (p.Lys367Met) | |
| 3 | g.46901444G>A | CA433474317 | PTH1R | c.1080G>A (p.Lys360=) c.*17G>A (n.*17G>A) c.987G>A (p.Lys329=) c.1119G>A (p.Lys373=) c.1101G>A (p.Lys367=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.46901444G>C | CA352501213 | PTH1R | c.1080G>C (p.Lys360Asn) c.*17G>C (n.*17G>C) c.987G>C (p.Lys329Asn) c.1119G>C (p.Lys373Asn) c.1101G>C (p.Lys367Asn) | |
| 3 | g.46901444G= | CA1362316668 | PTH1R | c.1080G= (p.Lys360=) c.*17G= (n.*17G=) c.987G= (p.Lys329=) c.1119G= (p.Lys373=) c.1101G= (p.Lys367=) | |
| 3 | g.46901444G>T | CA352501216 | PTH1R | c.1080G>T (p.Lys360Asn) c.*17G>T (n.*17G>T) c.987G>T (p.Lys329Asn) c.1119G>T (p.Lys373Asn) c.1101G>T (p.Lys367Asn) | gnomAD v4 |
| 3 | g.46901445T>A | CA352501219 | PTH1R | c.1081T>A (p.Trp361Arg) c.*18T>A (n.*18T>A) c.988T>A (p.Trp330Arg) c.1120T>A (p.Trp374Arg) c.1102T>A (p.Trp368Arg) | gnomAD v4 |
| 3 | g.46901445T>C | CA352501221 | PTH1R | c.1081T>C (p.Trp361Arg) c.*18T>C (n.*18T>C) c.988T>C (p.Trp330Arg) c.1120T>C (p.Trp374Arg) c.1102T>C (p.Trp368Arg) | gnomAD v4 |
| 3 | g.46901445T>G | CA352501223 | PTH1R | c.1081T>G (p.Trp361Gly) c.*18T>G (n.*18T>G) c.988T>G (p.Trp330Gly) c.1120T>G (p.Trp374Gly) c.1102T>G (p.Trp368Gly) | |
| 3 | g.46901446G>A | CA352501224 | PTH1R | c.1082G>A (p.Trp361Ter) c.*19G>A (n.*19G>A) c.989G>A (p.Trp330Ter) c.1121G>A (p.Trp374Ter) c.1103G>A (p.Trp368Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.46901446G>C | CA352501225 | PTH1R | c.1082G>C (p.Trp361Ser) c.*19G>C (n.*19G>C) c.989G>C (p.Trp330Ser) c.1121G>C (p.Trp374Ser) c.1103G>C (p.Trp368Ser) | |
| 3 | g.46901446G= | CA1362316669 | PTH1R | c.1082G= (p.Trp361=) c.*19G= (n.*19G=) c.989G= (p.Trp330=) c.1121G= (p.Trp374=) c.1103G= (p.Trp368=) | |
| 3 | g.46901446G>T | CA352501227 | PTH1R | c.1082G>T (p.Trp361Leu) c.*19G>T (n.*19G>T) c.989G>T (p.Trp330Leu) c.1121G>T (p.Trp374Leu) c.1103G>T (p.Trp368Leu) | gnomAD v4 |
| 3 | g.46901447G>A | CA352501232 | PTH1R | c.1083G>A (p.Trp361Ter) c.*20G>A (n.*20G>A) c.990G>A (p.Trp330Ter) c.1122G>A (p.Trp374Ter) c.1104G>A (p.Trp368Ter) | dbSNP gnomAD v2 |
| 3 | g.46901447G>C | CA352501233 | PTH1R | c.1083G>C (p.Trp361Cys) c.*20G>C (n.*20G>C) c.990G>C (p.Trp330Cys) c.1122G>C (p.Trp374Cys) c.1104G>C (p.Trp368Cys) | |
| 3 | g.46901447G= | CA1362316670 | PTH1R | c.1083G= (p.Trp361=) c.*20G= (n.*20G=) c.990G= (p.Trp330=) c.1122G= (p.Trp374=) c.1104G= (p.Trp368=) | |
| 3 | g.46901447G>T | CA352501231 | PTH1R | c.1083G>T (p.Trp361Cys) c.*20G>T (n.*20G>T) c.990G>T (p.Trp330Cys) c.1122G>T (p.Trp374Cys) c.1104G>T (p.Trp368Cys) | gnomAD v4 |
| 3 | g.46901448A>C | CA352501234 | PTH1R | c.1084A>C (p.Ile362Leu) c.*21A>C (n.*21A>C) c.991A>C (p.Ile331Leu) c.1123A>C (p.Ile375Leu) c.1105A>C (p.Ile369Leu) | |
| 3 | g.46901448A>G | CA352501236 | PTH1R | c.1084A>G (p.Ile362Val) c.*21A>G (n.*21A>G) c.991A>G (p.Ile331Val) c.1123A>G (p.Ile375Val) c.1105A>G (p.Ile369Val) | gnomAD v4 |
| 3 | g.46901448A>T | CA352501237 | PTH1R | c.1084A>T (p.Ile362Phe) c.*21A>T (n.*21A>T) c.991A>T (p.Ile331Phe) c.1123A>T (p.Ile375Phe) c.1105A>T (p.Ile369Phe) | |
| 3 | g.46901449T>A | CA352501238 | PTH1R | c.1085T>A (p.Ile362Asn) c.*22T>A (n.*22T>A) c.992T>A (p.Ile331Asn) c.1124T>A (p.Ile375Asn) c.1106T>A (p.Ile369Asn) | gnomAD v4 |
| 3 | g.46901449T>C | CA352501239 | PTH1R | c.1085T>C (p.Ile362Thr) c.*22T>C (n.*22T>C) c.992T>C (p.Ile331Thr) c.1124T>C (p.Ile375Thr) c.1106T>C (p.Ile369Thr) | gnomAD v4 |
| 3 | g.46901449T>G | CA352501240 | PTH1R | c.1085T>G (p.Ile362Ser) c.*22T>G (n.*22T>G) c.992T>G (p.Ile331Ser) c.1124T>G (p.Ile375Ser) c.1106T>G (p.Ile369Ser) | |
| 3 | g.46901450C>A | CA433474318 | PTH1R | c.1086C>A (p.Ile362=) c.*23C>A (n.*23C>A) c.993C>A (p.Ile331=) c.1125C>A (p.Ile375=) c.1107C>A (p.Ile369=) | gnomAD v4 |
| 3 | g.46901450C= | CA1362316671 | PTH1R | c.1086C= (p.Ile362=) c.*23C= (n.*23C=) c.993C= (p.Ile331=) c.1125C= (p.Ile375=) c.1107C= (p.Ile369=) | |
| 3 | g.46901450C>G | CA352501243 | PTH1R | c.1086C>G (p.Ile362Met) c.*23C>G (n.*23C>G) c.993C>G (p.Ile331Met) c.1125C>G (p.Ile375Met) c.1107C>G (p.Ile369Met) | |
| 3 | g.46901450C>T | CA433474319 | PTH1R | c.1086C>T (p.Ile362=) c.*23C>T (n.*23C>T) c.993C>T (p.Ile331=) c.1125C>T (p.Ile375=) c.1107C>T (p.Ile369=) | dbSNP gnomAD v2 |
| 3 | g.46901451A= | CA1362316672 | PTH1R | c.1087A= (p.Ile363=) c.*24A= (n.*24A=) c.994A= (p.Ile332=) c.1126A= (p.Ile376=) c.1108A= (p.Ile370=) | |
| 3 | g.46901451A>C | CA352501245 | PTH1R | c.1087A>C (p.Ile363Leu) c.*24A>C (n.*24A>C) c.994A>C (p.Ile332Leu) c.1126A>C (p.Ile376Leu) c.1108A>C (p.Ile370Leu) | |
| 3 | g.46901451A>G | CA2359399 | PTH1R | c.1087A>G (p.Ile363Val) c.*24A>G (n.*24A>G) c.994A>G (p.Ile332Val) c.1126A>G (p.Ile376Val) c.1108A>G (p.Ile370Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.46901451A>T | CA352501246 | PTH1R | c.1087A>T (p.Ile363Phe) c.*24A>T (n.*24A>T) c.994A>T (p.Ile332Phe) c.1126A>T (p.Ile376Phe) c.1108A>T (p.Ile370Phe) | |
| 3 | g.46901452T>A | CA352501248 | PTH1R | c.1088T>A (p.Ile363Asn) c.*25T>A (n.*25T>A) c.995T>A (p.Ile332Asn) c.1127T>A (p.Ile376Asn) c.1109T>A (p.Ile370Asn) | gnomAD v4 |
| 3 | g.46901452T>C | CA352501251 | PTH1R | c.1088T>C (p.Ile363Thr) c.*25T>C (n.*25T>C) c.995T>C (p.Ile332Thr) c.1127T>C (p.Ile376Thr) c.1109T>C (p.Ile370Thr) | |
| 3 | g.46901452T>G | CA352501253 | PTH1R | c.1088T>G (p.Ile363Ser) c.*25T>G (n.*25T>G) c.995T>G (p.Ile332Ser) c.1127T>G (p.Ile376Ser) c.1109T>G (p.Ile370Ser) | |
| 3 | g.46901453C>A | CA433474320 | PTH1R | c.1089C>A (p.Ile363=) c.*26C>A (n.*26C>A) c.996C>A (p.Ile332=) c.1128C>A (p.Ile376=) c.1110C>A (p.Ile370=) | gnomAD v4 |
| 3 | g.46901453C= | CA1362316673 | PTH1R | c.1089C= (p.Ile363=) c.*26C= (n.*26C=) c.996C= (p.Ile332=) c.1128C= (p.Ile376=) c.1110C= (p.Ile370=) | |
| 3 | g.46901453C>G | CA352501256 | PTH1R | c.1089C>G (p.Ile363Met) c.*26C>G (n.*26C>G) c.996C>G (p.Ile332Met) c.1128C>G (p.Ile376Met) c.1110C>G (p.Ile370Met) | |
| 3 | g.46901453C>T | CA433474321 | PTH1R | c.1089C>T (p.Ile363=) c.*26C>T (n.*26C>T) c.996C>T (p.Ile332=) c.1128C>T (p.Ile376=) c.1110C>T (p.Ile370=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.46901454C>A | CA352501257 | PTH1R | c.1090C>A (p.Gln364Lys) c.*27C>A (n.*27C>A) c.997C>A (p.Gln333Lys) c.1129C>A (p.Gln377Lys) c.1111C>A (p.Gln371Lys) | gnomAD v4 |
| 3 | g.46901454C= | CA1362316674 | PTH1R | c.1090C= (p.Gln364=) c.*27C= (n.*27C=) c.997C= (p.Gln333=) c.1129C= (p.Gln377=) c.1111C= (p.Gln371=) | |
| 3 | g.46901454C>G | CA352501259 | PTH1R | c.1090C>G (p.Gln364Glu) c.*27C>G (n.*27C>G) c.997C>G (p.Gln333Glu) c.1129C>G (p.Gln377Glu) c.1111C>G (p.Gln371Glu) | |
| 3 | g.46901454C>T | CA352501258 | PTH1R | c.1090C>T (p.Gln364Ter) c.*27C>T (n.*27C>T) c.997C>T (p.Gln333Ter) c.1129C>T (p.Gln377Ter) c.1111C>T (p.Gln371Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.46901455A>C | CA352501261 | PTH1R | c.1091A>C (p.Gln364Pro) c.*28A>C (n.*28A>C) c.998A>C (p.Gln333Pro) c.1130A>C (p.Gln377Pro) c.1112A>C (p.Gln371Pro) | |
| 3 | g.46901455A>G | CA352501264 | PTH1R | c.1091A>G (p.Gln364Arg) c.*28A>G (n.*28A>G) c.998A>G (p.Gln333Arg) c.1130A>G (p.Gln377Arg) c.1112A>G (p.Gln371Arg) | gnomAD v4 |
| 3 | g.46901455A>T | CA352501267 | PTH1R | c.1091A>T (p.Gln364Leu) c.*28A>T (n.*28A>T) c.998A>T (p.Gln333Leu) c.1130A>T (p.Gln377Leu) c.1112A>T (p.Gln371Leu) | gnomAD v4 |
| 3 | g.46901455_46901456delinsAG | CA1362316675 | PTH1R | c.1091_1092delinsAG (p.Gln364=) c.*28_*29delinsAG (n.*28_*29delinsAG) c.998_999delinsAG (p.Gln333=) c.1130_1131delinsAG (p.Gln377=) c.1112_1113delinsAG (p.Gln371=) | |
| 3 | g.46901456G>A | CA433474322 | PTH1R | c.1092G>A (p.Gln364=) c.*29G>A (n.*29G>A) c.999G>A (p.Gln333=) c.1131G>A (p.Gln377=) c.1113G>A (p.Gln371=) | gnomAD v4 |
| 3 | g.46901456G>C | CA352501268 | PTH1R | c.1092G>C (p.Gln364His) c.*29G>C (n.*29G>C) c.999G>C (p.Gln333His) c.1131G>C (p.Gln377His) c.1113G>C (p.Gln371His) | |
| 3 | g.46901456G= | CA1362316676 | PTH1R | c.1092G= (p.Gln364=) c.*29G= (n.*29G=) c.999G= (p.Gln333=) c.1131G= (p.Gln377=) c.1113G= (p.Gln371=) | |
| 3 | g.46901456G>T | CA73771623 | PTH1R | c.1092G>T (p.Gln364His) c.*29G>T (n.*29G>T) c.999G>T (p.Gln333His) c.1131G>T (p.Gln377His) c.1113G>T (p.Gln371His) | dbSNP gnomAD v4 |
| 3 | g.46901457del | CA542732325 | PTH1R | c.1093del (p.Val365CysfsTer?) c.*30del (n.*30del) c.1000del (p.Val334CysfsTer?) c.1132del (p.Val378CysfsTer?) c.1114del (p.Val372CysfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.46901457G>A | CA352501271 | PTH1R | c.1093G>A (p.Val365Met) c.*30G>A (n.*30G>A) c.1000G>A (p.Val334Met) c.1132G>A (p.Val378Met) c.1114G>A (p.Val372Met) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.46901457G>C | CA352501274 | PTH1R | c.1093G>C (p.Val365Leu) c.*30G>C (n.*30G>C) c.1000G>C (p.Val334Leu) c.1132G>C (p.Val378Leu) c.1114G>C (p.Val372Leu) | |
| 3 | g.46901457G= | CA1362316677 | PTH1R | c.1093G= (p.Val365=) c.*30G= (n.*30G=) c.1000G= (p.Val334=) c.1132G= (p.Val378=) c.1114G= (p.Val372=) | |
| 3 | g.46901457G>T | CA352501275 | PTH1R | c.1093G>T (p.Val365Leu) c.*30G>T (n.*30G>T) c.1000G>T (p.Val334Leu) c.1132G>T (p.Val378Leu) c.1114G>T (p.Val372Leu) | |
| 3 | g.46901458T>A | CA352501276 | PTH1R | c.1094T>A (p.Val365Glu) c.*31T>A (n.*31T>A) c.1001T>A (p.Val334Glu) c.1133T>A (p.Val378Glu) c.1115T>A (p.Val372Glu) | |
| 3 | g.46901458T>C | CA352501277 | PTH1R | c.1094T>C (p.Val365Ala) c.*31T>C (n.*31T>C) c.1001T>C (p.Val334Ala) c.1133T>C (p.Val378Ala) c.1115T>C (p.Val372Ala) | gnomAD v4 |
| 3 | g.46901458T>G | CA352501278 | PTH1R | c.1094T>G (p.Val365Gly) c.*31T>G (n.*31T>G) c.1001T>G (p.Val334Gly) c.1133T>G (p.Val378Gly) c.1115T>G (p.Val372Gly) | |
| 3 | g.46901459G>A | CA433474325 | PTH1R | c.1095G>A (p.Val365=) c.*32G>A (n.*32G>A) c.1002G>A (p.Val334=) c.1134G>A (p.Val378=) c.1116G>A (p.Val372=) | gnomAD v4 |
| 3 | g.46901459G>C | CA433474324 | PTH1R | c.1095G>C (p.Val365=) c.*32G>C (n.*32G>C) c.1002G>C (p.Val334=) c.1134G>C (p.Val378=) c.1116G>C (p.Val372=) | |
| 3 | g.46901459G>T | CA433474323 | PTH1R | c.1095G>T (p.Val365=) c.*32G>T (n.*32G>T) c.1002G>T (p.Val334=) c.1134G>T (p.Val378=) c.1116G>T (p.Val372=) | gnomAD v4 |
| 3 | g.46901460C>A | CA352501281 | PTH1R | c.1096C>A (p.Pro366Thr) c.*33C>A (n.*33C>A) c.1003C>A (p.Pro335Thr) c.1135C>A (p.Pro379Thr) c.1117C>A (p.Pro373Thr) | gnomAD v4 |
| 3 | g.46901460C>G | CA352501280 | PTH1R | c.1096C>G (p.Pro366Ala) c.*33C>G (n.*33C>G) c.1003C>G (p.Pro335Ala) c.1135C>G (p.Pro379Ala) c.1117C>G (p.Pro373Ala) | |
| 3 | g.46901460C>T | CA352501279 | PTH1R | c.1096C>T (p.Pro366Ser) c.*33C>T (n.*33C>T) c.1003C>T (p.Pro335Ser) c.1135C>T (p.Pro379Ser) c.1117C>T (p.Pro373Ser) | gnomAD v4 |
| 3 | g.46901462del | CA2665483177 | PTH1R | c.1098del (p.Ile367SerfsTer?) c.*35del (n.*35del) c.1005del (p.Ile336SerfsTer?) c.1137del (p.Ile380SerfsTer?) c.1119del (p.Ile374SerfsTer?) | gnomAD v4 |
| 3 | g.46901461C>A | CA352501285 | PTH1R | c.1097C>A (p.Pro366His) c.*34C>A (n.*34C>A) c.1004C>A (p.Pro335His) c.1136C>A (p.Pro379His) c.1118C>A (p.Pro373His) | gnomAD v4 |
| 3 | g.46901461C>G | CA352501288 | PTH1R | c.1097C>G (p.Pro366Arg) c.*34C>G (n.*34C>G) c.1004C>G (p.Pro335Arg) c.1136C>G (p.Pro379Arg) c.1118C>G (p.Pro373Arg) | |
| 3 | g.46901461C>T | CA352501289 | PTH1R | c.1097C>T (p.Pro366Leu) c.*34C>T (n.*34C>T) c.1004C>T (p.Pro335Leu) c.1136C>T (p.Pro379Leu) c.1118C>T (p.Pro373Leu) | gnomAD v4 |
| 3 | g.46901462C>A | CA433474326 | PTH1R | c.1098C>A (p.Pro366=) c.*35C>A (n.*35C>A) c.1005C>A (p.Pro335=) c.1137C>A (p.Pro379=) c.1119C>A (p.Pro373=) | gnomAD v4 |
| 3 | g.46901462C>G | CA433474328 | PTH1R | c.1098C>G (p.Pro366=) c.*35C>G (n.*35C>G) c.1005C>G (p.Pro335=) c.1137C>G (p.Pro379=) c.1119C>G (p.Pro373=) | |
| 3 | g.46901462C>T | CA433474327 | PTH1R | c.1098C>T (p.Pro366=) c.*35C>T (n.*35C>T) c.1005C>T (p.Pro335=) c.1137C>T (p.Pro379=) c.1119C>T (p.Pro373=) | gnomAD v4 |
| 3 | g.46901463A>C | CA352501291 | PTH1R | c.1099A>C (p.Ile367Leu) c.*36A>C (n.*36A>C) c.1006A>C (p.Ile336Leu) c.1138A>C (p.Ile380Leu) c.1120A>C (p.Ile374Leu) | |
| 3 | g.46901463A>G | CA352501294 | PTH1R | c.1099A>G (p.Ile367Val) c.*36A>G (n.*36A>G) c.1006A>G (p.Ile336Val) c.1138A>G (p.Ile380Val) c.1120A>G (p.Ile374Val) | gnomAD v4 |
| 3 | g.46901463A>T | CA352501297 | PTH1R | c.1099A>T (p.Ile367Phe) c.*36A>T (n.*36A>T) c.1006A>T (p.Ile336Phe) c.1138A>T (p.Ile380Phe) c.1120A>T (p.Ile374Phe) | |
| 3 | g.46901464T>A | CA352501303 | PTH1R | c.1100T>A (p.Ile367Asn) c.*37T>A (n.*37T>A) c.1007T>A (p.Ile336Asn) c.1139T>A (p.Ile380Asn) c.1121T>A (p.Ile374Asn) | gnomAD v4 |
| 3 | g.46901464T>C | CA352501302 | PTH1R | c.1100T>C (p.Ile367Thr) c.*37T>C (n.*37T>C) c.1007T>C (p.Ile336Thr) c.1139T>C (p.Ile380Thr) c.1121T>C (p.Ile374Thr) | |
| 3 | g.46901464T>G | CA352501300 | PTH1R | c.1100T>G (p.Ile367Ser) c.*37T>G (n.*37T>G) c.1007T>G (p.Ile336Ser) c.1139T>G (p.Ile380Ser) c.1121T>G (p.Ile374Ser) | |
| 3 | g.46901465C>A | CA433474329 | PTH1R | c.1101C>A (p.Ile367=) c.*38C>A (n.*38C>A) c.1008C>A (p.Ile336=) c.1140C>A (p.Ile380=) c.1122C>A (p.Ile374=) | gnomAD v4 |
| 3 | g.46901465C= | CA1362316678 | PTH1R | c.1101C= (p.Ile367=) c.*38C= (n.*38C=) c.1008C= (p.Ile336=) c.1140C= (p.Ile380=) c.1122C= (p.Ile374=) | |
| 3 | g.46901465C>G | CA352501304 | PTH1R | c.1101C>G (p.Ile367Met) c.*38C>G (n.*38C>G) c.1008C>G (p.Ile336Met) c.1140C>G (p.Ile380Met) c.1122C>G (p.Ile374Met) | dbSNP gnomAD v2 |
| 3 | g.46901465C>T | CA433474330 | PTH1R | c.1101C>T (p.Ile367=) c.*38C>T (n.*38C>T) c.1008C>T (p.Ile336=) c.1140C>T (p.Ile380=) c.1122C>T (p.Ile374=) | dbSNP gnomAD v4 COSMIC |
| 3 | g.46901466C>A | CA352501305 | PTH1R | c.1102C>A (p.Leu368Met) c.*39C>A (n.*39C>A) c.1009C>A (p.Leu337Met) c.1141C>A (p.Leu381Met) c.1123C>A (p.Leu375Met) | gnomAD v4 |
| 3 | g.46901466C>G | CA352501306 | PTH1R | c.1102C>G (p.Leu368Val) c.*39C>G (n.*39C>G) c.1009C>G (p.Leu337Val) c.1141C>G (p.Leu381Val) c.1123C>G (p.Leu375Val) | gnomAD v4 |
| 3 | g.46901466C>T | CA433474331 | PTH1R | c.1102C>T (p.Leu368=) c.*39C>T (n.*39C>T) c.1009C>T (p.Leu337=) c.1141C>T (p.Leu381=) c.1123C>T (p.Leu375=) | |
| 3 | g.46901467T>A | CA352501307 | PTH1R | c.1103T>A (p.Leu368Gln) c.*40T>A (n.*40T>A) c.1010T>A (p.Leu337Gln) c.1142T>A (p.Leu381Gln) c.1124T>A (p.Leu375Gln) | gnomAD v4 |
| 3 | g.46901467T>C | CA352501308 | PTH1R | c.1103T>C (p.Leu368Pro) c.*40T>C (n.*40T>C) c.1010T>C (p.Leu337Pro) c.1142T>C (p.Leu381Pro) c.1124T>C (p.Leu375Pro) | gnomAD v4 |
| 3 | g.46901467T>G | CA352501309 | PTH1R | c.1103T>G (p.Leu368Arg) c.*40T>G (n.*40T>G) c.1010T>G (p.Leu337Arg) c.1142T>G (p.Leu381Arg) c.1124T>G (p.Leu375Arg) | |
| 3 | g.46901468G>A | CA433474332 | PTH1R | c.1104G>A (p.Leu368=) c.*41G>A (n.*41G>A) c.1011G>A (p.Leu337=) c.1143G>A (p.Leu381=) c.1125G>A (p.Leu375=) | gnomAD v4 |
| 3 | g.46901468G>C | CA433474333 | PTH1R | c.1104G>C (p.Leu368=) c.*41G>C (n.*41G>C) c.1011G>C (p.Leu337=) c.1143G>C (p.Leu381=) c.1125G>C (p.Leu375=) | |
| 3 | g.46901468G>T | CA433474334 | PTH1R | c.1104G>T (p.Leu368=) c.*41G>T (n.*41G>T) c.1011G>T (p.Leu337=) c.1143G>T (p.Leu381=) c.1125G>T (p.Leu375=) | gnomAD v4 |
| 3 | g.46901469G>A | CA352501310 | PTH1R | c.1105G>A (p.Ala369Thr) c.*42G>A (n.*42G>A) c.1012G>A (p.Ala338Thr) c.1144G>A (p.Ala382Thr) c.1126G>A (p.Ala376Thr) | dbSNP gnomAD v4 |
| 3 | g.46901469G>C | CA352501312 | PTH1R | c.1105G>C (p.Ala369Pro) c.*42G>C (n.*42G>C) c.1012G>C (p.Ala338Pro) c.1144G>C (p.Ala382Pro) c.1126G>C (p.Ala376Pro) | |
| 3 | g.46901469G= | CA1362316679 | PTH1R | c.1105G= (p.Ala369=) c.*42G= (n.*42G=) c.1012G= (p.Ala338=) c.1144G= (p.Ala382=) c.1126G= (p.Ala376=) | |
| 3 | g.46901469G>T | CA352501311 | PTH1R | c.1105G>T (p.Ala369Ser) c.*42G>T (n.*42G>T) c.1012G>T (p.Ala338Ser) c.1144G>T (p.Ala382Ser) c.1126G>T (p.Ala376Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.46901470C>A | CA352501313 | PTH1R | c.1106C>A (p.Ala369Asp) c.*43C>A (n.*43C>A) c.1013C>A (p.Ala338Asp) c.1145C>A (p.Ala382Asp) c.1127C>A (p.Ala376Asp) | gnomAD v4 |
| 3 | g.46901470C>G | CA352501314 | PTH1R | c.1106C>G (p.Ala369Gly) c.*43C>G (n.*43C>G) c.1013C>G (p.Ala338Gly) c.1145C>G (p.Ala382Gly) c.1127C>G (p.Ala376Gly) | |
| 3 | g.46901470C>T | CA352501315 | PTH1R | c.1106C>T (p.Ala369Val) c.*43C>T (n.*43C>T) c.1013C>T (p.Ala338Val) c.1145C>T (p.Ala382Val) c.1127C>T (p.Ala376Val) | gnomAD v4 |
| 3 | g.46901471C>A | CA433474335 | PTH1R | c.1107C>A (p.Ala369=) c.*44C>A (n.*44C>A) c.1014C>A (p.Ala338=) c.1146C>A (p.Ala382=) c.1128C>A (p.Ala376=) | gnomAD v4 |
| 3 | g.46901471C>G | CA433474336 | PTH1R | c.1107C>G (p.Ala369=) c.*44C>G (n.*44C>G) c.1014C>G (p.Ala338=) c.1146C>G (p.Ala382=) c.1128C>G (p.Ala376=) | |
| 3 | g.46901471C>T | CA433474337 | PTH1R | c.1107C>T (p.Ala369=) c.*44C>T (n.*44C>T) c.1014C>T (p.Ala338=) c.1146C>T (p.Ala382=) c.1128C>T (p.Ala376=) | |
| 3 | g.46901472T>A | CA352501316 | PTH1R | c.1108T>A (p.Ser370Thr) c.*45T>A (n.*45T>A) c.1015T>A (p.Ser339Thr) c.1147T>A (p.Ser383Thr) c.1129T>A (p.Ser377Thr) | |
| 3 | g.46901472T>C | CA352501317 | PTH1R | c.1108T>C (p.Ser370Pro) c.*45T>C (n.*45T>C) c.1015T>C (p.Ser339Pro) c.1147T>C (p.Ser383Pro) c.1129T>C (p.Ser377Pro) | |
| 3 | g.46901472T>G | CA352501319 | PTH1R | c.1108T>G (p.Ser370Ala) c.*45T>G (n.*45T>G) c.1015T>G (p.Ser339Ala) c.1147T>G (p.Ser383Ala) c.1129T>G (p.Ser377Ala) | |
| 3 | g.46901473C>A | CA352501322 | PTH1R | c.1109C>A (p.Ser370Tyr) c.*46C>A (n.*46C>A) c.1016C>A (p.Ser339Tyr) c.1148C>A (p.Ser383Tyr) c.1130C>A (p.Ser377Tyr) | |
| 3 | g.46901473C>G | CA352501325 | PTH1R | c.1109C>G (p.Ser370Cys) c.*46C>G (n.*46C>G) c.1016C>G (p.Ser339Cys) c.1148C>G (p.Ser383Cys) c.1130C>G (p.Ser377Cys) | |
| 3 | g.46901473C>T | CA352501327 | PTH1R | c.1109C>T (p.Ser370Phe) c.*46C>T (n.*46C>T) c.1016C>T (p.Ser339Phe) c.1148C>T (p.Ser383Phe) c.1130C>T (p.Ser377Phe) | gnomAD v4 |
| 3 | g.46901474del | CA2665483178 | PTH1R | c.1110del (p.Ile371LeufsTer?) c.*47del (n.*47del) c.1017del (p.Ile340LeufsTer?) c.1149del (p.Ile384LeufsTer?) c.1131del (p.Ile378LeufsTer?) | gnomAD v4 |
| 3 | g.46901474C>A | CA433474338 | PTH1R | c.1110C>A (p.Ser370=) c.*47C>A (n.*47C>A) c.1017C>A (p.Ser339=) c.1149C>A (p.Ser383=) c.1131C>A (p.Ser377=) | |
| 3 | g.46901474C>G | CA433474339 | PTH1R | c.1110C>G (p.Ser370=) c.*47C>G (n.*47C>G) c.1017C>G (p.Ser339=) c.1149C>G (p.Ser383=) c.1131C>G (p.Ser377=) | |
| 3 | g.46901474C>T | CA433474340 | PTH1R | c.1110C>T (p.Ser370=) c.*47C>T (n.*47C>T) c.1017C>T (p.Ser339=) c.1149C>T (p.Ser383=) c.1131C>T (p.Ser377=) | gnomAD v4 |
| 3 | g.46901475A= | CA1362316680 | PTH1R | c.1111A= (p.Ile371=) c.*48A= (n.*48A=) c.1018A= (p.Ile340=) c.1150A= (p.Ile384=) c.1132A= (p.Ile378=) | |
| 3 | g.46901475A>C | CA73771629 | PTH1R | c.1111A>C (p.Ile371Leu) c.*48A>C (n.*48A>C) c.1018A>C (p.Ile340Leu) c.1150A>C (p.Ile384Leu) c.1132A>C (p.Ile378Leu) | dbSNP gnomAD v4 |
| 3 | g.46901475A>G | CA352501333 | PTH1R | c.1111A>G (p.Ile371Val) c.*48A>G (n.*48A>G) c.1018A>G (p.Ile340Val) c.1150A>G (p.Ile384Val) c.1132A>G (p.Ile378Val) | gnomAD v4 |
| 3 | g.46901475A>T | CA352501336 | PTH1R | c.1111A>T (p.Ile371Phe) c.*48A>T (n.*48A>T) c.1018A>T (p.Ile340Phe) c.1150A>T (p.Ile384Phe) c.1132A>T (p.Ile378Phe) | gnomAD v4 |
| 3 | g.46901476T>A | CA352501338 | PTH1R | c.1112T>A (p.Ile371Asn) c.*49T>A (n.*49T>A) c.1019T>A (p.Ile340Asn) c.1151T>A (p.Ile384Asn) c.1133T>A (p.Ile378Asn) | gnomAD v4 |
| 3 | g.46901476T>C | CA2359400 | PTH1R | c.1112T>C (p.Ile371Thr) c.*49T>C (n.*49T>C) c.1019T>C (p.Ile340Thr) c.1151T>C (p.Ile384Thr) c.1133T>C (p.Ile378Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.46901476T>G | CA352501341 | PTH1R | c.1112T>G (p.Ile371Ser) c.*49T>G (n.*49T>G) c.1019T>G (p.Ile340Ser) c.1151T>G (p.Ile384Ser) c.1133T>G (p.Ile378Ser) | |
| 3 | g.46901476T= | CA1362316681 | PTH1R | c.1112T= (p.Ile371=) c.*49T= (n.*49T=) c.1019T= (p.Ile340=) c.1151T= (p.Ile384=) c.1133T= (p.Ile378=) | |
| 3 | g.46901477T>A | CA433474341 | PTH1R | c.1113T>A (p.Ile371=) c.*50T>A (n.*50T>A) c.1020T>A (p.Ile340=) c.1152T>A (p.Ile384=) c.1134T>A (p.Ile378=) | gnomAD v4 |
| 3 | g.46901477T>C | CA433474342 | PTH1R | c.1113T>C (p.Ile371=) c.*50T>C (n.*50T>C) c.1020T>C (p.Ile340=) c.1152T>C (p.Ile384=) c.1134T>C (p.Ile378=) | gnomAD v4 |
| 3 | g.46901477T>G | CA73771639 | PTH1R | c.1113T>G (p.Ile371Met) c.*50T>G (n.*50T>G) c.1020T>G (p.Ile340Met) c.1152T>G (p.Ile384Met) c.1134T>G (p.Ile378Met) | dbSNP |
| 3 | g.46901477T= | CA1362316682 | PTH1R | c.1113T= (p.Ile371=) c.*50T= (n.*50T=) c.1020T= (p.Ile340=) c.1152T= (p.Ile384=) c.1134T= (p.Ile378=) | |
| 3 | g.46901478G>A | CA2359401 | PTH1R | c.1114G>A (p.Val372Met) c.*51G>A (n.*51G>A) c.1021G>A (p.Val341Met) c.1153G>A (p.Val385Met) c.1135G>A (p.Val379Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.46901478G>C | CA352501350 | PTH1R | c.1114G>C (p.Val372Leu) c.*51G>C (n.*51G>C) c.1021G>C (p.Val341Leu) c.1153G>C (p.Val385Leu) c.1135G>C (p.Val379Leu) | |
| 3 | g.46901478G= | CA1362316683 | PTH1R | c.1114G= (p.Val372=) c.*51G= (n.*51G=) c.1021G= (p.Val341=) c.1153G= (p.Val385=) c.1135G= (p.Val379=) | |
| 3 | g.46901478G>T | CA352501353 | PTH1R | c.1114G>T (p.Val372Leu) c.*51G>T (n.*51G>T) c.1021G>T (p.Val341Leu) c.1153G>T (p.Val385Leu) c.1135G>T (p.Val379Leu) | gnomAD v4 |
| 3 | g.46901479T>A | CA352501356 | PTH1R | c.1115T>A (p.Val372Glu) c.*52T>A (n.*52T>A) c.1022T>A (p.Val341Glu) c.1154T>A (p.Val385Glu) c.1136T>A (p.Val379Glu) | dbSNP gnomAD v4 |
| 3 | g.46901479T>C | CA352501359 | PTH1R | c.1115T>C (p.Val372Ala) c.*52T>C (n.*52T>C) c.1022T>C (p.Val341Ala) c.1154T>C (p.Val385Ala) c.1136T>C (p.Val379Ala) | dbSNP gnomAD v2 |
| 3 | g.46901479T>G | CA352501362 | PTH1R | c.1115T>G (p.Val372Gly) c.*52T>G (n.*52T>G) c.1022T>G (p.Val341Gly) c.1154T>G (p.Val385Gly) c.1136T>G (p.Val379Gly) | |
| 3 | g.46901479T= | CA1362316684 | PTH1R | c.1115T= (p.Val372=) c.*52T= (n.*52T=) c.1022T= (p.Val341=) c.1154T= (p.Val385=) c.1136T= (p.Val379=) | |
| 3 | g.46901480G>A | CA433474343 | PTH1R | c.1116G>A (p.Val372=) c.*53G>A (n.*53G>A) c.1023G>A (p.Val341=) c.1155G>A (p.Val385=) c.1137G>A (p.Val379=) | gnomAD v4 |
| 3 | g.46901480G>C | CA433474344 | PTH1R | c.1116G>C (p.Val372=) c.*53G>C (n.*53G>C) c.1023G>C (p.Val341=) c.1155G>C (p.Val385=) c.1137G>C (p.Val379=) | |
| 3 | g.46901480G>T | CA433474345 | PTH1R | c.1116G>T (p.Val372=) c.*53G>T (n.*53G>T) c.1023G>T (p.Val341=) c.1155G>T (p.Val385=) c.1137G>T (p.Val379=) | gnomAD v4 |
| 3 | g.46901481G>A | CA352501364 | PTH1R | c.1116+1G>A (n.1116+1G>A) c.*53+1G>A (n.*53+1G>A) c.1023+1G>A (n.1023+1G>A) c.1155+1G>A (n.1155+1G>A) c.1137+1G>A (n.1137+1G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.46901481G>C | CA352501367 | PTH1R | c.1116+1G>C (n.1116+1G>C) c.*53+1G>C (n.*53+1G>C) c.1023+1G>C (n.1023+1G>C) c.1155+1G>C (n.1155+1G>C) c.1137+1G>C (n.1137+1G>C) | |
| 3 | g.46901481G= | CA1362316685 | PTH1R | c.1116+1G= (n.1116+1G=) c.*53+1G= (n.*53+1G=) c.1023+1G= (n.1023+1G=) c.1155+1G= (n.1155+1G=) c.1137+1G= (n.1137+1G=) | |
| 3 | g.46901481G>T | CA352501369 | PTH1R | c.1116+1G>T (n.1116+1G>T) c.*53+1G>T (n.*53+1G>T) c.1023+1G>T (n.1023+1G>T) c.1155+1G>T (n.1155+1G>T) c.1137+1G>T (n.1137+1G>T) | gnomAD v4 |
| 3 | g.46901482del | CA2665483179 | PTH1R | c.1116+2del (n.1116+2del) c.*53+2del (n.*53+2del) c.1023+2del (n.1023+2del) c.1155+2del (n.1155+2del) c.1137+2del (n.1137+2del) | gnomAD v4 |
| 3 | g.46901482T>A | CA352501372 | PTH1R | c.1116+2T>A (n.1116+2T>A) c.*53+2T>A (n.*53+2T>A) c.1023+2T>A (n.1023+2T>A) c.1155+2T>A (n.1155+2T>A) c.1137+2T>A (n.1137+2T>A) | |
| 3 | g.46901482T>C | CA352501374 | PTH1R | c.1116+2T>C (n.1116+2T>C) c.*53+2T>C (n.*53+2T>C) c.1023+2T>C (n.1023+2T>C) c.1155+2T>C (n.1155+2T>C) c.1137+2T>C (n.1137+2T>C) | gnomAD v4 |
| 3 | g.46901482T>G | CA352501375 | PTH1R | c.1116+2T>G (n.1116+2T>G) c.*53+2T>G (n.*53+2T>G) c.1023+2T>G (n.1023+2T>G) c.1155+2T>G (n.1155+2T>G) c.1137+2T>G (n.1137+2T>G) | |
| 3 | g.46901483G>A | CA2665483180 | PTH1R | c.1116+3G>A (n.1116+3G>A) c.*53+3G>A (n.*53+3G>A) c.1023+3G>A (n.1023+3G>A) c.1155+3G>A (n.1155+3G>A) c.1137+3G>A (n.1137+3G>A) | gnomAD v4 |
| 3 | g.46901483G>T | CA2665483181 | PTH1R | c.1116+3G>T (n.1116+3G>T) c.*53+3G>T (n.*53+3G>T) c.1023+3G>T (n.1023+3G>T) c.1155+3G>T (n.1155+3G>T) c.1137+3G>T (n.1137+3G>T) | gnomAD v4 |
| 3 | g.46901484A= | CA1362316686 | PTH1R | c.1116+4A= (n.1116+4A=) c.*53+4A= (n.*53+4A=) c.1023+4A= (n.1023+4A=) c.1155+4A= (n.1155+4A=) c.1137+4A= (n.1137+4A=) | |
| 3 | g.46901484A>G | CA907622459 | PTH1R | c.1116+4A>G (n.1116+4A>G) c.*53+4A>G (n.*53+4A>G) c.1023+4A>G (n.1023+4A>G) c.1155+4A>G (n.1155+4A>G) c.1137+4A>G (n.1137+4A>G) | dbSNP gnomAD v4 |
| 3 | g.46901484A>T | CA2665483182 | PTH1R | c.1116+4A>T (n.1116+4A>T) c.*53+4A>T (n.*53+4A>T) c.1023+4A>T (n.1023+4A>T) c.1155+4A>T (n.1155+4A>T) c.1137+4A>T (n.1137+4A>T) | gnomAD v4 |
| 3 | g.46901485G>A | CA2665483183 | PTH1R | c.1116+5G>A (n.1116+5G>A) c.*53+5G>A (n.*53+5G>A) c.1023+5G>A (n.1023+5G>A) c.1155+5G>A (n.1155+5G>A) c.1137+5G>A (n.1137+5G>A) | gnomAD v4 |
| 3 | g.46901485G>T | CA2665483184 | PTH1R | c.1116+5G>T (n.1116+5G>T) c.*53+5G>T (n.*53+5G>T) c.1023+5G>T (n.1023+5G>T) c.1155+5G>T (n.1155+5G>T) c.1137+5G>T (n.1137+5G>T) | gnomAD v4 |
| 3 | g.46901485_46901504dup | CA2756109881 | PTH1R | c.1116+5_1116+24dup (n.1116+5_1116+24dup) c.*53+5_*53+24dup (n.*53+5_*53+24dup) c.1023+5_1023+24dup (n.1023+5_1023+24dup) c.1155+5_1155+24dup (n.1155+5_1155+24dup) c.1137+5_1137+24dup (n.1137+5_1137+24dup) | |
| 3 | g.46901486del | CA2665483185 | PTH1R | c.1116+6del (n.1116+6del) c.*53+6del (n.*53+6del) c.1023+6del (n.1023+6del) c.1155+6del (n.1155+6del) c.1137+6del (n.1137+6del) | gnomAD v4 |
| 3 | g.46901486C>A | CA2665483186 | PTH1R | c.1116+6C>A (n.1116+6C>A) c.*53+6C>A (n.*53+6C>A) c.1023+6C>A (n.1023+6C>A) c.1155+6C>A (n.1155+6C>A) c.1137+6C>A (n.1137+6C>A) | gnomAD v4 |
| 3 | g.46901486C>T | CA2665483187 | PTH1R | c.1116+6C>T (n.1116+6C>T) c.*53+6C>T (n.*53+6C>T) c.1023+6C>T (n.1023+6C>T) c.1155+6C>T (n.1155+6C>T) c.1137+6C>T (n.1137+6C>T) | gnomAD v4 |
| 3 | g.46901487del | CA2739279588 | PTH1R | c.1116+7del (n.1116+7del) c.*53+7del (n.*53+7del) c.1023+7del (n.1023+7del) c.1155+7del (n.1155+7del) c.1137+7del (n.1137+7del) | ClinVar |
| 3 | g.46901487A>G | CA2577579981 | PTH1R | c.1116+7A>G (n.1116+7A>G) c.*53+7A>G (n.*53+7A>G) c.1023+7A>G (n.1023+7A>G) c.1155+7A>G (n.1155+7A>G) c.1137+7A>G (n.1137+7A>G) | gnomAD v4 |
| 3 | g.46901487A>T | CA2577579982 | PTH1R | c.1116+7A>T (n.1116+7A>T) c.*53+7A>T (n.*53+7A>T) c.1023+7A>T (n.1023+7A>T) c.1155+7A>T (n.1155+7A>T) c.1137+7A>T (n.1137+7A>T) | dbSNP gnomAD v4 |
| 3 | g.46901488G>A | CA542732328 | PTH1R | c.1116+8G>A (n.1116+8G>A) c.*53+8G>A (n.*53+8G>A) c.1023+8G>A (n.1023+8G>A) c.1155+8G>A (n.1155+8G>A) c.1137+8G>A (n.1137+8G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.46901488G= | CA1362316687 | PTH1R | c.1116+8G= (n.1116+8G=) c.*53+8G= (n.*53+8G=) c.1023+8G= (n.1023+8G=) c.1155+8G= (n.1155+8G=) c.1137+8G= (n.1137+8G=) | |
| 3 | g.46901488G>T | CA907622474 | PTH1R | c.1116+8G>T (n.1116+8G>T) c.*53+8G>T (n.*53+8G>T) c.1023+8G>T (n.1023+8G>T) c.1155+8G>T (n.1155+8G>T) c.1137+8G>T (n.1137+8G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.46901489G>A | CA2665483188 | PTH1R | c.1116+9G>A (n.1116+9G>A) c.*53+9G>A (n.*53+9G>A) c.1023+9G>A (n.1023+9G>A) c.1155+9G>A (n.1155+9G>A) c.1137+9G>A (n.1137+9G>A) | gnomAD v4 |
| 3 | g.46901489G>T | CA2665483189 | PTH1R | c.1116+9G>T (n.1116+9G>T) c.*53+9G>T (n.*53+9G>T) c.1023+9G>T (n.1023+9G>T) c.1155+9G>T (n.1155+9G>T) c.1137+9G>T (n.1137+9G>T) | gnomAD v4 |
| 3 | g.46901490G>A | CA542732329 | PTH1R | c.1116+10G>A (n.1116+10G>A) c.*53+10G>A (n.*53+10G>A) c.1023+10G>A (n.1023+10G>A) c.1155+10G>A (n.1155+10G>A) c.1137+10G>A (n.1137+10G>A) | dbSNP gnomAD v2 |
| 3 | g.46901490G>C | CA73771642 | PTH1R | c.1116+10G>C (n.1116+10G>C) c.*53+10G>C (n.*53+10G>C) c.1023+10G>C (n.1023+10G>C) c.1155+10G>C (n.1155+10G>C) c.1137+10G>C (n.1137+10G>C) | dbSNP gnomAD v4 |
| 3 | g.46901490G= | CA1362316688 | PTH1R | c.1116+10G= (n.1116+10G=) c.*53+10G= (n.*53+10G=) c.1023+10G= (n.1023+10G=) c.1155+10G= (n.1155+10G=) c.1137+10G= (n.1137+10G=) | |
| 3 | g.46901490G>T | CA2665483190 | PTH1R | c.1116+10G>T (n.1116+10G>T) c.*53+10G>T (n.*53+10G>T) c.1023+10G>T (n.1023+10G>T) c.1155+10G>T (n.1155+10G>T) c.1137+10G>T (n.1137+10G>T) | gnomAD v4 |
| 3 | g.46901491G>A | CA542732330 | PTH1R | c.1116+11G>A (n.1116+11G>A) c.*53+11G>A (n.*53+11G>A) c.1023+11G>A (n.1023+11G>A) c.1155+11G>A (n.1155+11G>A) c.1137+11G>A (n.1137+11G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.46901491G= | CA1362316689 | PTH1R | c.1116+11G= (n.1116+11G=) c.*53+11G= (n.*53+11G=) c.1023+11G= (n.1023+11G=) c.1155+11G= (n.1155+11G=) c.1137+11G= (n.1137+11G=) | |
| 3 | g.46901491G>T | CA2665483191 | PTH1R | c.1116+11G>T (n.1116+11G>T) c.*53+11G>T (n.*53+11G>T) c.1023+11G>T (n.1023+11G>T) c.1155+11G>T (n.1155+11G>T) c.1137+11G>T (n.1137+11G>T) | gnomAD v4 |
| 3 | g.46901493G>A | CA542732331 | PTH1R | c.1116+13G>A (n.1116+13G>A) c.*53+13G>A (n.*53+13G>A) c.1023+13G>A (n.1023+13G>A) c.1155+13G>A (n.1155+13G>A) c.1137+13G>A (n.1137+13G>A) | dbSNP gnomAD v2 |
| 3 | g.46901493G= | CA1362316690 | PTH1R | c.1116+13G= (n.1116+13G=) c.*53+13G= (n.*53+13G=) c.1023+13G= (n.1023+13G=) c.1155+13G= (n.1155+13G=) c.1137+13G= (n.1137+13G=) | |
| 3 | g.46901493G>T | CA2665483192 | PTH1R | c.1116+13G>T (n.1116+13G>T) c.*53+13G>T (n.*53+13G>T) c.1023+13G>T (n.1023+13G>T) c.1155+13G>T (n.1155+13G>T) c.1137+13G>T (n.1137+13G>T) | gnomAD v4 |
| 3 | g.46901494G>A | CA73771646 | PTH1R | c.1116+14G>A (n.1116+14G>A) c.*53+14G>A (n.*53+14G>A) c.1023+14G>A (n.1023+14G>A) c.1155+14G>A (n.1155+14G>A) c.1137+14G>A (n.1137+14G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.46901494G= | CA1362316691 | PTH1R | c.1116+14G= (n.1116+14G=) c.*53+14G= (n.*53+14G=) c.1023+14G= (n.1023+14G=) c.1155+14G= (n.1155+14G=) c.1137+14G= (n.1137+14G=) | |
| 3 | g.46901494G>T | CA2665483193 | PTH1R | c.1116+14G>T (n.1116+14G>T) c.*53+14G>T (n.*53+14G>T) c.1023+14G>T (n.1023+14G>T) c.1155+14G>T (n.1155+14G>T) c.1137+14G>T (n.1137+14G>T) | gnomAD v4 |
| 3 | g.46901495G>A | CA542732332 | PTH1R | c.1116+15G>A (n.1116+15G>A) c.*53+15G>A (n.*53+15G>A) c.1023+15G>A (n.1023+15G>A) c.1155+15G>A (n.1155+15G>A) c.1137+15G>A (n.1137+15G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.46901495G= | CA1362316692 | PTH1R | c.1116+15G= (n.1116+15G=) c.*53+15G= (n.*53+15G=) c.1023+15G= (n.1023+15G=) c.1155+15G= (n.1155+15G=) c.1137+15G= (n.1137+15G=) | |
| 3 | g.46901495G>T | CA2665483194 | PTH1R | c.1116+15G>T (n.1116+15G>T) c.*53+15G>T (n.*53+15G>T) c.1023+15G>T (n.1023+15G>T) c.1155+15G>T (n.1155+15G>T) c.1137+15G>T (n.1137+15G>T) | gnomAD v4 |
| 3 | g.46901496C>A | CA2665483195 | PTH1R | c.1116+16C>A (n.1116+16C>A) c.*53+16C>A (n.*53+16C>A) c.1023+16C>A (n.1023+16C>A) c.1155+16C>A (n.1155+16C>A) c.1137+16C>A (n.1137+16C>A) | gnomAD v4 |
| 3 | g.46901496C= | CA1362316693 | PTH1R | c.1116+16C= (n.1116+16C=) c.*53+16C= (n.*53+16C=) c.1023+16C= (n.1023+16C=) c.1155+16C= (n.1155+16C=) c.1137+16C= (n.1137+16C=) | |
| 3 | g.46901496C>T | CA2359402 | PTH1R | c.1116+16C>T (n.1116+16C>T) c.*53+16C>T (n.*53+16C>T) c.1023+16C>T (n.1023+16C>T) c.1155+16C>T (n.1155+16C>T) c.1137+16C>T (n.1137+16C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.46901498G>A | CA2665483196 | PTH1R | c.1116+18G>A (n.1116+18G>A) c.*53+18G>A (n.*53+18G>A) c.1023+18G>A (n.1023+18G>A) c.1155+18G>A (n.1155+18G>A) c.1137+18G>A (n.1137+18G>A) | gnomAD v4 |
| 3 | g.46901499C>A | CA2665483197 | PTH1R | c.1116+19C>A (n.1116+19C>A) c.*53+19C>A (n.*53+19C>A) c.1023+19C>A (n.1023+19C>A) c.1155+19C>A (n.1155+19C>A) c.1137+19C>A (n.1137+19C>A) | gnomAD v4 |
| 3 | g.46901499C= | CA1362316694 | PTH1R | c.1116+19C= (n.1116+19C=) c.*53+19C= (n.*53+19C=) c.1023+19C= (n.1023+19C=) c.1155+19C= (n.1155+19C=) c.1137+19C= (n.1137+19C=) | |
| 3 | g.46901499C>T | CA542732334 | PTH1R | c.1116+19C>T (n.1116+19C>T) c.*53+19C>T (n.*53+19C>T) c.1023+19C>T (n.1023+19C>T) c.1155+19C>T (n.1155+19C>T) c.1137+19C>T (n.1137+19C>T) | dbSNP gnomAD v2 |
| 3 | g.46901500T>A | CA2665483198 | PTH1R | c.1116+20T>A (n.1116+20T>A) c.*53+20T>A (n.*53+20T>A) c.1023+20T>A (n.1023+20T>A) c.1155+20T>A (n.1155+20T>A) c.1137+20T>A (n.1137+20T>A) | gnomAD v4 |
| 3 | g.46901500T>C | CA2756109882 | PTH1R | c.1116+20T>C (n.1116+20T>C) c.*53+20T>C (n.*53+20T>C) c.1023+20T>C (n.1023+20T>C) c.1155+20T>C (n.1155+20T>C) c.1137+20T>C (n.1137+20T>C) | |
| 3 | g.46901500T>G | CA1047538885 | PTH1R | c.1116+20T>G (n.1116+20T>G) c.*53+20T>G (n.*53+20T>G) c.1023+20T>G (n.1023+20T>G) c.1155+20T>G (n.1155+20T>G) c.1137+20T>G (n.1137+20T>G) | gnomAD v3 gnomAD v4 |
| 3 | g.46901501G>A | CA542732335 | PTH1R | c.1116+21G>A (n.1116+21G>A) c.*53+21G>A (n.*53+21G>A) c.1023+21G>A (n.1023+21G>A) c.1155+21G>A (n.1155+21G>A) c.1137+21G>A (n.1137+21G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.46901501G= | CA1362316695 | PTH1R | c.1116+21G= (n.1116+21G=) c.*53+21G= (n.*53+21G=) c.1023+21G= (n.1023+21G=) c.1155+21G= (n.1155+21G=) c.1137+21G= (n.1137+21G=) | |
| 3 | g.46901501G>T | CA2756109883 | PTH1R | c.1116+21G>T (n.1116+21G>T) c.*53+21G>T (n.*53+21G>T) c.1023+21G>T (n.1023+21G>T) c.1155+21G>T (n.1155+21G>T) c.1137+21G>T (n.1137+21G>T) | |
| 3 | g.46901502G>A | CA2665483199 | PTH1R | c.1116+22G>A (n.1116+22G>A) c.*53+22G>A (n.*53+22G>A) c.1023+22G>A (n.1023+22G>A) c.1155+22G>A (n.1155+22G>A) c.1137+22G>A (n.1137+22G>A) | gnomAD v4 |
| 3 | g.46901502G>C | CA2665483201 | PTH1R | c.1116+22G>C (n.1116+22G>C) c.*53+22G>C (n.*53+22G>C) c.1023+22G>C (n.1023+22G>C) c.1155+22G>C (n.1155+22G>C) c.1137+22G>C (n.1137+22G>C) | gnomAD v4 |
| 3 | g.46901502G>T | CA2665483200 | PTH1R | c.1116+22G>T (n.1116+22G>T) c.*53+22G>T (n.*53+22G>T) c.1023+22G>T (n.1023+22G>T) c.1155+22G>T (n.1155+22G>T) c.1137+22G>T (n.1137+22G>T) | gnomAD v4 |
| 3 | g.46901504C>A | CA2665483202 | PTH1R | c.1116+24C>A (n.1116+24C>A) c.*53+24C>A (n.*53+24C>A) c.1023+24C>A (n.1023+24C>A) c.1155+24C>A (n.1155+24C>A) c.1137+24C>A (n.1137+24C>A) | gnomAD v4 |
| 3 | g.46901504C>T | CA2665483203 | PTH1R | c.1116+24C>T (n.1116+24C>T) c.*53+24C>T (n.*53+24C>T) c.1023+24C>T (n.1023+24C>T) c.1155+24C>T (n.1155+24C>T) c.1137+24C>T (n.1137+24C>T) | gnomAD v4 |
| 3 | g.46901505A= | CA1362316696 | PTH1R | c.1116+25A= (n.1116+25A=) c.*53+25A= (n.*53+25A=) c.1023+25A= (n.1023+25A=) c.1155+25A= (n.1155+25A=) c.1137+25A= (n.1137+25A=) | |
| 3 | g.46901505A>C | CA2665483204 | PTH1R | c.1116+25A>C (n.1116+25A>C) c.*53+25A>C (n.*53+25A>C) c.1023+25A>C (n.1023+25A>C) c.1155+25A>C (n.1155+25A>C) c.1137+25A>C (n.1137+25A>C) | gnomAD v4 |
| 3 | g.46901505A>T | CA1362316697 | PTH1R | c.1116+25A>T (n.1116+25A>T) c.*53+25A>T (n.*53+25A>T) c.1023+25A>T (n.1023+25A>T) c.1155+25A>T (n.1155+25A>T) c.1137+25A>T (n.1137+25A>T) | dbSNP gnomAD v4 |
| 3 | g.46901506C>A | CA542732336 | PTH1R | c.1116+26C>A (n.1116+26C>A) c.*53+26C>A (n.*53+26C>A) c.1023+26C>A (n.1023+26C>A) c.1155+26C>A (n.1155+26C>A) c.1137+26C>A (n.1137+26C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.46901506C= | CA1362316699 | PTH1R | c.1116+26C= (n.1116+26C=) c.*53+26C= (n.*53+26C=) c.1023+26C= (n.1023+26C=) c.1155+26C= (n.1155+26C=) c.1137+26C= (n.1137+26C=) | |
| 3 | g.46901506_46901508delinsCAG | CA1362316698 | PTH1R | c.1116+26_1116+28delinsCAG (n.1116+26_1116+28delinsCAG) c.*53+26_*53+28delinsCAG (n.*53+26_*53+28delinsCAG) c.1023+26_1023+28delinsCAG (n.1023+26_1023+28delinsCAG) c.1155+26_1155+28delinsCAG (n.1155+26_1155+28delinsCAG) c.1137+26_1137+28delinsCAG (n.1137+26_1137+28delinsCAG) | |
| 3 | g.46901507A= | CA1362316700 | PTH1R | c.1116+27A= (n.1116+27A=) c.*53+27A= (n.*53+27A=) c.1023+27A= (n.1023+27A=) c.1155+27A= (n.1155+27A=) c.1137+27A= (n.1137+27A=) | |
| 3 | g.46901507A>C | CA2665483205 | PTH1R | c.1116+27A>C (n.1116+27A>C) c.*53+27A>C (n.*53+27A>C) c.1023+27A>C (n.1023+27A>C) c.1155+27A>C (n.1155+27A>C) c.1137+27A>C (n.1137+27A>C) | gnomAD v4 |
| 3 | g.46901507A>T | CA1047538893 | PTH1R | c.1116+27A>T (n.1116+27A>T) c.*53+27A>T (n.*53+27A>T) c.1023+27A>T (n.1023+27A>T) c.1155+27A>T (n.1155+27A>T) c.1137+27A>T (n.1137+27A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.46901507_46901508del | CA2359403 | PTH1R | c.1116+27_1116+28del (n.1116+27_1116+28del) c.*53+27_*53+28del (n.*53+27_*53+28del) c.1023+27_1023+28del (n.1023+27_1023+28del) c.1155+27_1155+28del (n.1155+27_1155+28del) c.1137+27_1137+28del (n.1137+27_1137+28del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.46901508G>A | CA2665483206 | PTH1R | c.1116+28G>A (n.1116+28G>A) c.*53+28G>A (n.*53+28G>A) c.1023+28G>A (n.1023+28G>A) c.1155+28G>A (n.1155+28G>A) c.1137+28G>A (n.1137+28G>A) | gnomAD v4 |
| 3 | g.46901508G>T | CA2665483207 | PTH1R | c.1116+28G>T (n.1116+28G>T) c.*53+28G>T (n.*53+28G>T) c.1023+28G>T (n.1023+28G>T) c.1155+28G>T (n.1155+28G>T) c.1137+28G>T (n.1137+28G>T) | gnomAD v4 |
| 3 | g.46901510_46901511del | CA352501387 | PTH1R | c.1116+30_1116+31del (n.1116+30_1116+31del) c.*53+30_*53+31del (n.*53+30_*53+31del) c.1023+30_1023+31del (n.1023+30_1023+31del) c.1155+30_1155+31del (n.1155+30_1155+31del) c.1137+30_1137+31del (n.1137+30_1137+31del) | |
| 3 | g.46901509G>T | CA2577579983 | PTH1R | c.1116+29G>T (n.1116+29G>T) c.*53+29G>T (n.*53+29G>T) c.1023+29G>T (n.1023+29G>T) c.1155+29G>T (n.1155+29G>T) c.1137+29G>T (n.1137+29G>T) | gnomAD v4 |
| 3 | g.46901516_46901519del | CA2577579984 | PTH1R | c.1116+36_1116+39del (n.1116+36_1116+39del) c.*53+36_*53+39del (n.*53+36_*53+39del) c.1023+36_1023+39del (n.1023+36_1023+39del) c.1155+36_1155+39del (n.1155+36_1155+39del) c.1137+36_1137+39del (n.1137+36_1137+39del) | gnomAD v4 |
| 3 | g.46901510G>T | CA2596821682 | PTH1R | c.1116+30G>T (n.1116+30G>T) c.*53+30G>T (n.*53+30G>T) c.1023+30G>T (n.1023+30G>T) c.1155+30G>T (n.1155+30G>T) c.1137+30G>T (n.1137+30G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.46901511G>A | CA2665483209 | PTH1R | c.1116+31G>A (n.1116+31G>A) c.*53+31G>A (n.*53+31G>A) c.1023+31G>A (n.1023+31G>A) c.1155+31G>A (n.1155+31G>A) c.1137+31G>A (n.1137+31G>A) | gnomAD v4 |
| 3 | g.46901511G>T | CA2665483208 | PTH1R | c.1116+31G>T (n.1116+31G>T) c.*53+31G>T (n.*53+31G>T) c.1023+31G>T (n.1023+31G>T) c.1155+31G>T (n.1155+31G>T) c.1137+31G>T (n.1137+31G>T) | gnomAD v4 |
| 3 | g.46901512T>G | CA907622503 | PTH1R | c.1116+32T>G (n.1116+32T>G) c.*53+32T>G (n.*53+32T>G) c.1023+32T>G (n.1023+32T>G) c.1155+32T>G (n.1155+32T>G) c.1137+32T>G (n.1137+32T>G) | dbSNP gnomAD v4 |
| 3 | g.46901512T= | CA1362316701 | PTH1R | c.1116+32T= (n.1116+32T=) c.*53+32T= (n.*53+32T=) c.1023+32T= (n.1023+32T=) c.1155+32T= (n.1155+32T=) c.1137+32T= (n.1137+32T=) |