Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.113149128A>C | CA388792919 | F10 | c.1078A>C (p.Ile360Leu) c.*69A>C (n.*69A>C) c.946A>C (p.Ile316Leu) | |
13 | g.113149128A>G | CA388792921 | F10 | c.1078A>G (p.Ile360Val) c.*69A>G (n.*69A>G) c.946A>G (p.Ile316Val) | |
13 | g.113149128A>T | CA388792923 | F10 | c.1078A>T (p.Ile360Phe) c.*69A>T (n.*69A>T) c.946A>T (p.Ile316Phe) | |
13 | g.113149129T>A | CA388792929 | F10 | c.1079T>A (p.Ile360Asn) c.*70T>A (n.*70T>A) c.947T>A (p.Ile316Asn) | |
13 | g.113149129T>C | CA388792928 | F10 | c.1079T>C (p.Ile360Thr) c.*70T>C (n.*70T>C) c.947T>C (p.Ile316Thr) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149129T>G | CA388792925 | F10 | c.1079T>G (p.Ile360Ser) c.*70T>G (n.*70T>G) c.947T>G (p.Ile316Ser) | |
13 | g.113149129T= | CA2120140205 | F10 | c.1079T= (p.Ile360=) c.*70T= (n.*70T=) c.947T= (p.Ile316=) | |
13 | g.113149130T>A | CA485424103 | F10 | c.1080T>A (p.Ile360=) c.*71T>A (n.*71T>A) c.948T>A (p.Ile316=) | |
13 | g.113149130T>C | CA485424105 | F10 | c.1080T>C (p.Ile360=) c.*71T>C (n.*71T>C) c.948T>C (p.Ile316=) | |
13 | g.113149130T>G | CA388792932 | F10 | c.1080T>G (p.Ile360Met) c.*71T>G (n.*71T>G) c.948T>G (p.Ile316Met) | |
13 | g.113149131G>A | CA388792934 | F10 | c.1081G>A (p.Val361Met) c.*72G>A (n.*72G>A) c.949G>A (p.Val317Met) | |
13 | g.113149131G>C | CA388792936 | F10 | c.1081G>C (p.Val361Leu) c.*72G>C (n.*72G>C) c.949G>C (p.Val317Leu) | |
13 | g.113149131G>T | CA388792938 | F10 | c.1081G>T (p.Val361Leu) c.*72G>T (n.*72G>T) c.949G>T (p.Val317Leu) | |
13 | g.113149132T>A | CA388792940 | F10 | c.1082T>A (p.Val361Glu) c.*73T>A (n.*73T>A) c.950T>A (p.Val317Glu) | |
13 | g.113149132T>C | CA388792942 | F10 | c.1082T>C (p.Val361Ala) c.*73T>C (n.*73T>C) c.950T>C (p.Val317Ala) | |
13 | g.113149132T>G | CA388792944 | F10 | c.1082T>G (p.Val361Gly) c.*73T>G (n.*73T>G) c.950T>G (p.Val317Gly) | |
13 | g.113149133G>A | CA485424106 | F10 | c.1083G>A (p.Val361=) c.*74G>A (n.*74G>A) c.951G>A (p.Val317=) | dbSNP gnomAD v3 |
13 | g.113149133G>C | CA7060682 | F10 | c.1083G>C (p.Val361=) c.*74G>C (n.*74G>C) c.951G>C (p.Val317=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149133G= | CA2120140207 | F10 | c.1083G= (p.Val361=) c.*74G= (n.*74G=) c.951G= (p.Val317=) | |
13 | g.113149133G>T | CA485424108 | F10 | c.1083G>T (p.Val361=) c.*74G>T (n.*74G>T) c.951G>T (p.Val317=) | |
13 | g.113149134A>C | CA388792948 | F10 | c.1084A>C (p.Ser362Arg) c.*75A>C (n.*75A>C) c.952A>C (p.Ser318Arg) | |
13 | g.113149134A>G | CA388792950 | F10 | c.1084A>G (p.Ser362Gly) c.*75A>G (n.*75A>G) c.952A>G (p.Ser318Gly) | |
13 | g.113149134A>T | CA388792953 | F10 | c.1084A>T (p.Ser362Cys) c.*75A>T (n.*75A>T) c.952A>T (p.Ser318Cys) | |
13 | g.113149135G>A | CA388792956 | F10 | c.1085G>A (p.Ser362Asn) c.*76G>A (n.*76G>A) c.953G>A (p.Ser318Asn) | |
13 | g.113149135G>C | CA388792958 | F10 | c.1085G>C (p.Ser362Thr) c.*76G>C (n.*76G>C) c.953G>C (p.Ser318Thr) | |
13 | g.113149135G>T | CA388792960 | F10 | c.1085G>T (p.Ser362Ile) c.*76G>T (n.*76G>T) c.953G>T (p.Ser318Ile) | |
13 | g.113149136C>A | CA388792966 | F10 | c.1086C>A (p.Ser362Arg) c.*77C>A (n.*77C>A) c.954C>A (p.Ser318Arg) | dbSNP |
13 | g.113149136C= | CA2120140210 | F10 | c.1086C= (p.Ser362=) c.*77C= (n.*77C=) c.954C= (p.Ser318=) | |
13 | g.113149136C>G | CA388792963 | F10 | c.1086C>G (p.Ser362Arg) c.*77C>G (n.*77C>G) c.954C>G (p.Ser318Arg) | |
13 | g.113149136C>T | CA7060683 | F10 | c.1086C>T (p.Ser362=) c.*77C>T (n.*77C>T) c.954C>T (p.Ser318=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
13 | g.113149137G>A | CA388792976 | F10 | c.1087G>A (p.Gly363Ser) c.*78G>A (n.*78G>A) c.955G>A (p.Gly319Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
13 | g.113149137G>C | CA388792978 | F10 | c.1087G>C (p.Gly363Arg) c.*78G>C (n.*78G>C) c.955G>C (p.Gly319Arg) | |
13 | g.113149137G= | CA2120140214 | F10 | c.1087G= (p.Gly363=) c.*78G= (n.*78G=) c.955G= (p.Gly319=) | |
13 | g.113149137G>T | CA388792980 | F10 | c.1087G>T (p.Gly363Cys) c.*78G>T (n.*78G>T) c.955G>T (p.Gly319Cys) | |
13 | g.113149138G>A | CA388792984 | F10 | c.1088G>A (p.Gly363Asp) c.*79G>A (n.*79G>A) c.956G>A (p.Gly319Asp) | gnomAD v4 |
13 | g.113149138G>C | CA388792986 | F10 | c.1088G>C (p.Gly363Ala) c.*79G>C (n.*79G>C) c.956G>C (p.Gly319Ala) | gnomAD v4 |
13 | g.113149138G>T | CA388792987 | F10 | c.1088G>T (p.Gly363Val) c.*79G>T (n.*79G>T) c.956G>T (p.Gly319Val) | |
13 | g.113149139C>A | CA485424111 | F10 | c.1089C>A (p.Gly363=) c.*80C>A (n.*80C>A) c.957C>A (p.Gly319=) | |
13 | g.113149139C>G | CA485424113 | F10 | c.1089C>G (p.Gly363=) c.*80C>G (n.*80C>G) c.957C>G (p.Gly319=) | |
13 | g.113149139C>T | CA485424114 | F10 | c.1089C>T (p.Gly363=) c.*80C>T (n.*80C>T) c.957C>T (p.Gly319=) | |
13 | g.113149140T>A | CA388792988 | F10 | c.1090T>A (p.Phe364Ile) c.*81T>A (n.*81T>A) c.958T>A (p.Phe320Ile) | |
13 | g.113149140T>C | CA388792989 | F10 | c.1090T>C (p.Phe364Leu) c.*81T>C (n.*81T>C) c.958T>C (p.Phe320Leu) | |
13 | g.113149140T>G | CA388792991 | F10 | c.1090T>G (p.Phe364Val) c.*81T>G (n.*81T>G) c.958T>G (p.Phe320Val) | |
13 | g.113149141T>A | CA388792992 | F10 | c.1091T>A (p.Phe364Tyr) c.*82T>A (n.*82T>A) c.959T>A (p.Phe320Tyr) | |
13 | g.113149141T>C | CA388792995 | F10 | c.1091T>C (p.Phe364Ser) c.*82T>C (n.*82T>C) c.959T>C (p.Phe320Ser) | |
13 | g.113149141T>G | CA388792997 | F10 | c.1091T>G (p.Phe364Cys) c.*82T>G (n.*82T>G) c.959T>G (p.Phe320Cys) | |
13 | g.113149142C>A | CA388793002 | F10 | c.1092C>A (p.Phe364Leu) c.*83C>A (n.*83C>A) c.960C>A (p.Phe320Leu) | |
13 | g.113149142C= | CA2120140219 | F10 | c.1092C= (p.Phe364=) c.*83C= (n.*83C=) c.960C= (p.Phe320=) | |
13 | g.113149142C>G | CA388793005 | F10 | c.1092C>G (p.Phe364Leu) c.*83C>G (n.*83C>G) c.960C>G (p.Phe320Leu) | |
13 | g.113149142C>T | CA7060684 | F10 | c.1092C>T (p.Phe364=) c.*83C>T (n.*83C>T) c.960C>T (p.Phe320=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149143G>A | CA388793010 | F10 | c.1093G>A (p.Gly365Arg) c.*84G>A (n.*84G>A) c.961G>A (p.Gly321Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149143G>C | CA388793014 | F10 | c.1093G>C (p.Gly365Arg) c.*84G>C (n.*84G>C) c.961G>C (p.Gly321Arg) | |
13 | g.113149143G= | CA2120140221 | F10 | c.1093G= (p.Gly365=) c.*84G= (n.*84G=) c.961G= (p.Gly321=) | |
13 | g.113149143G>T | CA388793011 | F10 | c.1093G>T (p.Gly365Trp) c.*84G>T (n.*84G>T) c.961G>T (p.Gly321Trp) | |
13 | g.113149144G>A | CA388793017 | F10 | c.1094G>A (p.Gly365Glu) c.*85G>A (n.*85G>A) c.962G>A (p.Gly321Glu) | |
13 | g.113149144G>C | CA388793022 | F10 | c.1094G>C (p.Gly365Ala) c.*85G>C (n.*85G>C) c.962G>C (p.Gly321Ala) | |
13 | g.113149144G>T | CA388793019 | F10 | c.1094G>T (p.Gly365Val) c.*85G>T (n.*85G>T) c.962G>T (p.Gly321Val) | |
13 | g.113149145G>A | CA485424119 | F10 | c.1095G>A (p.Gly365=) c.*86G>A (n.*86G>A) c.963G>A (p.Gly321=) | |
13 | g.113149145G>C | CA485424117 | F10 | c.1095G>C (p.Gly365=) c.*86G>C (n.*86G>C) c.963G>C (p.Gly321=) | |
13 | g.113149145G>T | CA485424115 | F10 | c.1095G>T (p.Gly365=) c.*86G>T (n.*86G>T) c.963G>T (p.Gly321=) | |
13 | g.113149146del | CA2575514504 | F10 | c.1096del (p.Arg366AlafsTer?) c.*87del (n.*87del) c.964del (p.Arg322AlafsTer?) | gnomAD v4 |
13 | g.113149146C>A | CA388793024 | F10 | c.1096C>A (p.Arg366Ser) c.*87C>A (n.*87C>A) c.964C>A (p.Arg322Ser) | |
13 | g.113149146C= | CA2120140226 | F10 | c.1096C= (p.Arg366=) c.*87C= (n.*87C=) c.964C= (p.Arg322=) | |
13 | g.113149146C>G | CA388793026 | F10 | c.1096C>G (p.Arg366Gly) c.*87C>G (n.*87C>G) c.964C>G (p.Arg322Gly) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149146C>T | CA121837 | F10 | c.1096C>T (p.Arg366Cys) c.*87C>T (n.*87C>T) c.964C>T (p.Arg322Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149147G>A | CA7060685 | F10 | c.1097G>A (p.Arg366His) c.*88G>A (n.*88G>A) c.965G>A (p.Arg322His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149147G>C | CA388793029 | F10 | c.1097G>C (p.Arg366Pro) c.*88G>C (n.*88G>C) c.965G>C (p.Arg322Pro) | |
13 | g.113149147G= | CA2120140229 | F10 | c.1097G= (p.Arg366=) c.*88G= (n.*88G=) c.965G= (p.Arg322=) | |
13 | g.113149147G>T | CA388793031 | F10 | c.1097G>T (p.Arg366Leu) c.*88G>T (n.*88G>T) c.965G>T (p.Arg322Leu) | |
13 | g.113149148C>A | CA485424121 | F10 | c.1098C>A (p.Arg366=) c.*89C>A (n.*89C>A) c.966C>A (p.Arg322=) | |
13 | g.113149148C>G | CA485424122 | F10 | c.1098C>G (p.Arg366=) c.*89C>G (n.*89C>G) c.966C>G (p.Arg322=) | |
13 | g.113149148C>T | CA485424124 | F10 | c.1098C>T (p.Arg366=) c.*89C>T (n.*89C>T) c.966C>T (p.Arg322=) | |
13 | g.113149149A= | CA2120140232 | F10 | c.1099A= (p.Thr367=) c.*90A= (n.*90A=) c.967A= (p.Thr323=) | |
13 | g.113149149A>C | CA388793033 | F10 | c.1099A>C (p.Thr367Pro) c.*90A>C (n.*90A>C) c.967A>C (p.Thr323Pro) | dbSNP |
13 | g.113149149A>G | CA388793036 | F10 | c.1099A>G (p.Thr367Ala) c.*90A>G (n.*90A>G) c.967A>G (p.Thr323Ala) | dbSNP gnomAD v4 |
13 | g.113149149A>T | CA388793038 | F10 | c.1099A>T (p.Thr367Ser) c.*90A>T (n.*90A>T) c.967A>T (p.Thr323Ser) | |
13 | g.113149150C>A | CA388793040 | F10 | c.1100C>A (p.Thr367Asn) c.*91C>A (n.*91C>A) c.968C>A (p.Thr323Asn) | |
13 | g.113149150C>G | CA388793042 | F10 | c.1100C>G (p.Thr367Ser) c.*91C>G (n.*91C>G) c.968C>G (p.Thr323Ser) | |
13 | g.113149150C>T | CA388793044 | F10 | c.1100C>T (p.Thr367Ile) c.*91C>T (n.*91C>T) c.968C>T (p.Thr323Ile) | |
13 | g.113149151C>A | CA485424126 | F10 | c.1101C>A (p.Thr367=) c.*92C>A (n.*92C>A) c.969C>A (p.Thr323=) | |
13 | g.113149151C= | CA2120140235 | F10 | c.1101C= (p.Thr367=) c.*92C= (n.*92C=) c.969C= (p.Thr323=) | |
13 | g.113149151C>G | CA485424127 | F10 | c.1101C>G (p.Thr367=) c.*92C>G (n.*92C>G) c.969C>G (p.Thr323=) | |
13 | g.113149151C>T | CA256478691 | F10 | c.1101C>T (p.Thr367=) c.*92C>T (n.*92C>T) c.969C>T (p.Thr323=) | dbSNP gnomAD v4 |
13 | g.113149151_113149152insT | CA7060686 | F10 | c.1101_1102insT (p.His368SerfsTer?) c.*92_*93insT (n.*92_*93insT) c.969_970insT (p.His324SerfsTer?) | dbSNP ExAC |
13 | g.113149152C>A | CA388793047 | F10 | c.1102C>A (p.His368Asn) c.*93C>A (n.*93C>A) c.970C>A (p.His324Asn) | |
13 | g.113149152C>G | CA388793051 | F10 | c.1102C>G (p.His368Asp) c.*93C>G (n.*93C>G) c.970C>G (p.His324Asp) | |
13 | g.113149152C>T | CA388793049 | F10 | c.1102C>T (p.His368Tyr) c.*93C>T (n.*93C>T) c.970C>T (p.His324Tyr) | |
13 | g.113149153A= | CA2120140240 | F10 | c.1103A= (p.His368=) c.*94A= (n.*94A=) c.971A= (p.His324=) | |
13 | g.113149153A>C | CA388793054 | F10 | c.1103A>C (p.His368Pro) c.*94A>C (n.*94A>C) c.971A>C (p.His324Pro) | |
13 | g.113149153A>G | CA388793055 | F10 | c.1103A>G (p.His368Arg) c.*94A>G (n.*94A>G) c.971A>G (p.His324Arg) | dbSNP gnomAD v4 |
13 | g.113149153A>T | CA388793058 | F10 | c.1103A>T (p.His368Leu) c.*94A>T (n.*94A>T) c.971A>T (p.His324Leu) | |
13 | g.113149153_113149154delinsAC | CA2120140239 | F10 | c.1103_1104delinsAC (p.His368=) c.*94_*95delinsAC (n.*94_*95delinsAC) c.971_972delinsAC (p.His324=) | |
13 | g.113149154del | CA7060687 | F10 | c.1104del (p.His368GlnfsTer?) c.*95del (n.*95del) c.972del (p.His324GlnfsTer?) | dbSNP ExAC |
13 | g.113149154C>A | CA388793060 | F10 | c.1104C>A (p.His368Gln) c.*95C>A (n.*95C>A) c.972C>A (p.His324Gln) | |
13 | g.113149154C= | CA2120140243 | F10 | c.1104C= (p.His368=) c.*95C= (n.*95C=) c.972C= (p.His324=) | |
13 | g.113149154C>G | CA7060688 | F10 | c.1104C>G (p.His368Gln) c.*95C>G (n.*95C>G) c.972C>G (p.His324Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149154C>T | CA485424129 | F10 | c.1104C>T (p.His368=) c.*95C>T (n.*95C>T) c.972C>T (p.His324=) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149155G>A | CA388793062 | F10 | c.1105G>A (p.Glu369Lys) c.*96G>A (n.*96G>A) c.973G>A (p.Glu325Lys) | ClinVar dbSNP COSMIC |
13 | g.113149155G>C | CA388793064 | F10 | c.1105G>C (p.Glu369Gln) c.*96G>C (n.*96G>C) c.973G>C (p.Glu325Gln) | |
13 | g.113149155G= | CA2120140247 | F10 | c.1105G= (p.Glu369=) c.*96G= (n.*96G=) c.973G= (p.Glu325=) | |
13 | g.113149155G>T | CA388793066 | F10 | c.1105G>T (p.Glu369Ter) c.*96G>T (n.*96G>T) c.973G>T (p.Glu325Ter) | |
13 | g.113149156A>C | CA388793073 | F10 | c.1106A>C (p.Glu369Ala) c.*97A>C (n.*97A>C) c.974A>C (p.Glu325Ala) | |
13 | g.113149156A>G | CA388793070 | F10 | c.1106A>G (p.Glu369Gly) c.*97A>G (n.*97A>G) c.974A>G (p.Glu325Gly) | |
13 | g.113149156A>T | CA388793069 | F10 | c.1106A>T (p.Glu369Val) c.*97A>T (n.*97A>T) c.974A>T (p.Glu325Val) | |
13 | g.113149157G>A | CA485424131 | F10 | c.1107G>A (p.Glu369=) c.*98G>A (n.*98G>A) c.975G>A (p.Glu325=) | |
13 | g.113149157G>C | CA388793075 | F10 | c.1107G>C (p.Glu369Asp) c.*98G>C (n.*98G>C) c.975G>C (p.Glu325Asp) | |
13 | g.113149157G>T | CA388793078 | F10 | c.1107G>T (p.Glu369Asp) c.*98G>T (n.*98G>T) c.975G>T (p.Glu325Asp) | gnomAD v4 |
13 | g.113149158A>C | CA388793085 | F10 | c.1108A>C (p.Lys370Gln) c.*99A>C (n.*99A>C) c.976A>C (p.Lys326Gln) | |
13 | g.113149158A>G | CA388793088 | F10 | c.1108A>G (p.Lys370Glu) c.*99A>G (n.*99A>G) c.976A>G (p.Lys326Glu) | |
13 | g.113149158A>T | CA388793090 | F10 | c.1108A>T (p.Lys370Ter) c.*99A>T (n.*99A>T) c.976A>T (p.Lys326Ter) | gnomAD v4 |
13 | g.113149159A= | CA2120140251 | F10 | c.1109A= (p.Lys370=) c.*100A= (n.*100A=) c.977A= (p.Lys326=) | |
13 | g.113149159A>C | CA388793092 | F10 | c.1109A>C (p.Lys370Thr) c.*100A>C (n.*100A>C) c.977A>C (p.Lys326Thr) | |
13 | g.113149159A>G | CA388793095 | F10 | c.1109A>G (p.Lys370Arg) c.*100A>G (n.*100A>G) c.977A>G (p.Lys326Arg) | dbSNP |
13 | g.113149159A>T | CA388793104 | F10 | c.1109A>T (p.Lys370Met) c.*100A>T (n.*100A>T) c.977A>T (p.Lys326Met) | |
13 | g.113149160G>A | CA485424136 | F10 | c.1110G>A (p.Lys370=) c.*101G>A (n.*101G>A) c.978G>A (p.Lys326=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149160G>C | CA388793107 | F10 | c.1110G>C (p.Lys370Asn) c.*101G>C (n.*101G>C) c.978G>C (p.Lys326Asn) | |
13 | g.113149160G= | CA2120140254 | F10 | c.1110G= (p.Lys370=) c.*101G= (n.*101G=) c.978G= (p.Lys326=) | |
13 | g.113149160G>T | CA388793111 | F10 | c.1110G>T (p.Lys370Asn) c.*101G>T (n.*101G>T) c.978G>T (p.Lys326Asn) | |
13 | g.113149161G>A | CA388793115 | F10 | c.1111G>A (p.Gly371Ser) c.*102G>A (n.*102G>A) c.979G>A (p.Gly327Ser) | dbSNP gnomAD v4 |
13 | g.113149161G>C | CA388793117 | F10 | c.1111G>C (p.Gly371Arg) c.*102G>C (n.*102G>C) c.979G>C (p.Gly327Arg) | |
13 | g.113149161G= | CA2120140258 | F10 | c.1111G= (p.Gly371=) c.*102G= (n.*102G=) c.979G= (p.Gly327=) | |
13 | g.113149161G>T | CA388793120 | F10 | c.1111G>T (p.Gly371Cys) c.*102G>T (n.*102G>T) c.979G>T (p.Gly327Cys) | |
13 | g.113149162G>A | CA388793130 | F10 | c.1112G>A (p.Gly371Asp) c.*103G>A (n.*103G>A) c.980G>A (p.Gly327Asp) | gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149162G>C | CA388793124 | F10 | c.1112G>C (p.Gly371Ala) c.*103G>C (n.*103G>C) c.980G>C (p.Gly327Ala) | |
13 | g.113149162G= | CA2120140261 | F10 | c.1112G= (p.Gly371=) c.*103G= (n.*103G=) c.980G= (p.Gly327=) | |
13 | g.113149162G>T | CA388793127 | F10 | c.1112G>T (p.Gly371Val) c.*103G>T (n.*103G>T) c.980G>T (p.Gly327Val) | dbSNP |
13 | g.113149163C>A | CA485424140 | F10 | c.1113C>A (p.Gly371=) c.*104C>A (n.*104C>A) c.981C>A (p.Gly327=) | COSMIC |
13 | g.113149163C>G | CA485424142 | F10 | c.1113C>G (p.Gly371=) c.*104C>G (n.*104C>G) c.981C>G (p.Gly327=) | |
13 | g.113149163C>T | CA485424141 | F10 | c.1113C>T (p.Gly371=) c.*104C>T (n.*104C>T) c.981C>T (p.Gly327=) | |
13 | g.113149164C>A | CA485424143 | F10 | c.1114C>A (p.Arg372=) c.*105C>A (n.*105C>A) c.982C>A (p.Arg328=) | COSMIC |
13 | g.113149164C= | CA2120140264 | F10 | c.1114C= (p.Arg372=) c.*105C= (n.*105C=) c.982C= (p.Arg328=) | |
13 | g.113149164C>G | CA388793132 | F10 | c.1114C>G (p.Arg372Gly) c.*105C>G (n.*105C>G) c.982C>G (p.Arg328Gly) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149164C>T | CA256478695 | F10 | c.1114C>T (p.Arg372Trp) c.*105C>T (n.*105C>T) c.982C>T (p.Arg328Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149165G>A | CA256478697 | F10 | c.1115G>A (p.Arg372Gln) c.*106G>A (n.*106G>A) c.983G>A (p.Arg328Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149165G>C | CA7060689 | F10 | c.1115G>C (p.Arg372Pro) c.*106G>C (n.*106G>C) c.983G>C (p.Arg328Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149165G= | CA2120140268 | F10 | c.1115G= (p.Arg372=) c.*106G= (n.*106G=) c.983G= (p.Arg328=) | |
13 | g.113149165G>T | CA388793136 | F10 | c.1115G>T (p.Arg372Leu) c.*106G>T (n.*106G>T) c.983G>T (p.Arg328Leu) | |
13 | g.113149166G>A | CA485424146 | F10 | c.1116G>A (p.Arg372=) c.*107G>A (n.*107G>A) c.984G>A (p.Arg328=) | COSMIC |
13 | g.113149166G>C | CA485424147 | F10 | c.1116G>C (p.Arg372=) c.*107G>C (n.*107G>C) c.984G>C (p.Arg328=) | |
13 | g.113149166G>T | CA485424145 | F10 | c.1116G>T (p.Arg372=) c.*107G>T (n.*107G>T) c.984G>T (p.Arg328=) | |
13 | g.113149167C>A | CA388793139 | F10 | c.1117C>A (p.Gln373Lys) c.*108C>A (n.*108C>A) c.985C>A (p.Gln329Lys) | COSMIC |
13 | g.113149167C>G | CA388793142 | F10 | c.1117C>G (p.Gln373Glu) c.*108C>G (n.*108C>G) c.985C>G (p.Gln329Glu) | |
13 | g.113149167C>T | CA388793144 | F10 | c.1117C>T (p.Gln373Ter) c.*108C>T (n.*108C>T) c.985C>T (p.Gln329Ter) | |
13 | g.113149168A= | CA2120140273 | F10 | c.1118A= (p.Gln373=) c.*109A= (n.*109A=) c.986A= (p.Gln329=) | |
13 | g.113149168A>C | CA388793148 | F10 | c.1118A>C (p.Gln373Pro) c.*109A>C (n.*109A>C) c.986A>C (p.Gln329Pro) | |
13 | g.113149168A>G | CA7060690 | F10 | c.1118A>G (p.Gln373Arg) c.*109A>G (n.*109A>G) c.986A>G (p.Gln329Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149168A>T | CA388793151 | F10 | c.1118A>T (p.Gln373Leu) c.*109A>T (n.*109A>T) c.986A>T (p.Gln329Leu) | |
13 | g.113149169G>A | CA7060691 | F10 | c.1119G>A (p.Gln373=) c.*110G>A (n.*110G>A) c.987G>A (p.Gln329=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149169G>C | CA388793156 | F10 | c.1119G>C (p.Gln373His) c.*110G>C (n.*110G>C) c.987G>C (p.Gln329His) | |
13 | g.113149169G= | CA2120140276 | F10 | c.1119G= (p.Gln373=) c.*110G= (n.*110G=) c.987G= (p.Gln329=) | |
13 | g.113149169G>T | CA388793154 | F10 | c.1119G>T (p.Gln373His) c.*110G>T (n.*110G>T) c.987G>T (p.Gln329His) | |
13 | g.113149170T>A | CA388793159 | F10 | c.1120T>A (p.Ser374Thr) c.*111T>A (n.*111T>A) c.988T>A (p.Ser330Thr) | |
13 | g.113149170T>C | CA256478700 | F10 | c.1120T>C (p.Ser374Pro) c.*111T>C (n.*111T>C) c.988T>C (p.Ser330Pro) | ClinVar dbSNP COSMIC |
13 | g.113149170T>G | CA388793163 | F10 | c.1120T>G (p.Ser374Ala) c.*111T>G (n.*111T>G) c.988T>G (p.Ser330Ala) | |
13 | g.113149170T= | CA2120140280 | F10 | c.1120T= (p.Ser374=) c.*111T= (n.*111T=) c.988T= (p.Ser330=) | |
13 | g.113149171C>A | CA388793165 | F10 | c.1121C>A (p.Ser374Tyr) c.*112C>A (n.*112C>A) c.989C>A (p.Ser330Tyr) | |
13 | g.113149171C>G | CA388793174 | F10 | c.1121C>G (p.Ser374Cys) c.*112C>G (n.*112C>G) c.989C>G (p.Ser330Cys) | |
13 | g.113149171C>T | CA388793176 | F10 | c.1121C>T (p.Ser374Phe) c.*112C>T (n.*112C>T) c.989C>T (p.Ser330Phe) | |
13 | g.113149172C>A | CA485424149 | F10 | c.1122C>A (p.Ser374=) c.*113C>A (n.*113C>A) c.990C>A (p.Ser330=) | |
13 | g.113149172C>G | CA485424150 | F10 | c.1122C>G (p.Ser374=) c.*113C>G (n.*113C>G) c.990C>G (p.Ser330=) | |
13 | g.113149172C>T | CA485424151 | F10 | c.1122C>T (p.Ser374=) c.*113C>T (n.*113C>T) c.990C>T (p.Ser330=) | |
13 | g.113149173A= | CA2120140282 | F10 | c.1123A= (p.Thr375=) c.*114A= (n.*114A=) c.991A= (p.Thr331=) | |
13 | g.113149173A>C | CA388793185 | F10 | c.1123A>C (p.Thr375Pro) c.*114A>C (n.*114A>C) c.991A>C (p.Thr331Pro) | gnomAD v4 |
13 | g.113149173A>G | CA388793180 | F10 | c.1123A>G (p.Thr375Ala) c.*114A>G (n.*114A>G) c.991A>G (p.Thr331Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149173A>T | CA388793182 | F10 | c.1123A>T (p.Thr375Ser) c.*114A>T (n.*114A>T) c.991A>T (p.Thr331Ser) | |
13 | g.113149174C>A | CA388793187 | F10 | c.1124C>A (p.Thr375Asn) c.*115C>A (n.*115C>A) c.992C>A (p.Thr331Asn) | |
13 | g.113149174C>G | CA388793189 | F10 | c.1124C>G (p.Thr375Ser) c.*115C>G (n.*115C>G) c.992C>G (p.Thr331Ser) | |
13 | g.113149174C>T | CA388793190 | F10 | c.1124C>T (p.Thr375Ile) c.*115C>T (n.*115C>T) c.992C>T (p.Thr331Ile) | |
13 | g.113149175C>A | CA485424156 | F10 | c.1125C>A (p.Thr375=) c.*116C>A (n.*116C>A) c.993C>A (p.Thr331=) | |
13 | g.113149175C= | CA2120140285 | F10 | c.1125C= (p.Thr375=) c.*116C= (n.*116C=) c.993C= (p.Thr331=) | |
13 | g.113149175C>G | CA485424155 | F10 | c.1125C>G (p.Thr375=) c.*116C>G (n.*116C>G) c.993C>G (p.Thr331=) | |
13 | g.113149175C>T | CA485424157 | F10 | c.1125C>T (p.Thr375=) c.*116C>T (n.*116C>T) c.993C>T (p.Thr331=) | dbSNP |
13 | g.113149176A>C | CA485424158 | F10 | c.1126A>C (p.Arg376=) c.*117A>C (n.*117A>C) c.994A>C (p.Arg332=) | |
13 | g.113149176A>G | CA388793193 | F10 | c.1126A>G (p.Arg376Gly) c.*117A>G (n.*117A>G) c.994A>G (p.Arg332Gly) | gnomAD v4 |
13 | g.113149176A>T | CA388793195 | F10 | c.1126A>T (p.Arg376Trp) c.*117A>T (n.*117A>T) c.994A>T (p.Arg332Trp) | |
13 | g.113149177G>A | CA388793203 | F10 | c.1127G>A (p.Arg376Lys) c.*118G>A (n.*118G>A) c.995G>A (p.Arg332Lys) | |
13 | g.113149177G>C | CA388793199 | F10 | c.1127G>C (p.Arg376Thr) c.*118G>C (n.*118G>C) c.995G>C (p.Arg332Thr) | gnomAD v4 |
13 | g.113149177G>T | CA388793201 | F10 | c.1127G>T (p.Arg376Met) c.*118G>T (n.*118G>T) c.995G>T (p.Arg332Met) | |
13 | g.113149178G>A | CA256478702 | F10 | c.1128G>A (p.Arg376=) c.*119G>A (n.*119G>A) c.996G>A (p.Arg332=) | dbSNP gnomAD v4 |
13 | g.113149178G>C | CA388793207 | F10 | c.1128G>C (p.Arg376Ser) c.*119G>C (n.*119G>C) c.996G>C (p.Arg332Ser) | |
13 | g.113149178G= | CA2120140286 | F10 | c.1128G= (p.Arg376=) c.*119G= (n.*119G=) c.996G= (p.Arg332=) | |
13 | g.113149178G>T | CA388793210 | F10 | c.1128G>T (p.Arg376Ser) c.*119G>T (n.*119G>T) c.996G>T (p.Arg332Ser) | |
13 | g.113149179C>A | CA388793213 | F10 | c.1129C>A (p.Leu377Ile) c.*120C>A (n.*120C>A) c.997C>A (p.Leu333Ile) | |
13 | g.113149179C>G | CA388793215 | F10 | c.1129C>G (p.Leu377Val) c.*120C>G (n.*120C>G) c.997C>G (p.Leu333Val) | |
13 | g.113149179C>T | CA388793219 | F10 | c.1129C>T (p.Leu377Phe) c.*120C>T (n.*120C>T) c.997C>T (p.Leu333Phe) | |
13 | g.113149180T>A | CA388793221 | F10 | c.1130T>A (p.Leu377His) c.*121T>A (n.*121T>A) c.998T>A (p.Leu333His) | |
13 | g.113149180T>C | CA388793222 | F10 | c.1130T>C (p.Leu377Pro) c.*121T>C (n.*121T>C) c.998T>C (p.Leu333Pro) | |
13 | g.113149180T>G | CA388793233 | F10 | c.1130T>G (p.Leu377Arg) c.*121T>G (n.*121T>G) c.998T>G (p.Leu333Arg) | |
13 | g.113149181C>A | CA485424160 | F10 | c.1131C>A (p.Leu377=) c.*122C>A (n.*122C>A) c.999C>A (p.Leu333=) | |
13 | g.113149181C= | CA2120140287 | F10 | c.1131C= (p.Leu377=) c.*122C= (n.*122C=) c.999C= (p.Leu333=) | |
13 | g.113149181C>G | CA485424161 | F10 | c.1131C>G (p.Leu377=) c.*122C>G (n.*122C>G) c.999C>G (p.Leu333=) | gnomAD v4 |
13 | g.113149181C>T | CA7060692 | F10 | c.1131C>T (p.Leu377=) c.*122C>T (n.*122C>T) c.999C>T (p.Leu333=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149182A= | CA2120140291 | F10 | c.1132A= (p.Lys378=) c.*123A= (n.*123A=) c.1000A= (p.Lys334=) | |
13 | g.113149182A>C | CA388793239 | F10 | c.1132A>C (p.Lys378Gln) c.*123A>C (n.*123A>C) c.1000A>C (p.Lys334Gln) | |
13 | g.113149182A>G | CA388793241 | F10 | c.1132A>G (p.Lys378Glu) c.*123A>G (n.*123A>G) c.1000A>G (p.Lys334Glu) | |
13 | g.113149182A>T | CA256478704 | F10 | c.1132A>T (p.Lys378Ter) c.*123A>T (n.*123A>T) c.1000A>T (p.Lys334Ter) | dbSNP |
13 | g.113149183A>C | CA388793246 | F10 | c.1133A>C (p.Lys378Thr) c.*124A>C (n.*124A>C) c.1001A>C (p.Lys334Thr) | |
13 | g.113149183A>G | CA388793252 | F10 | c.1133A>G (p.Lys378Arg) c.*124A>G (n.*124A>G) c.1001A>G (p.Lys334Arg) | gnomAD v4 |
13 | g.113149183A>T | CA388793249 | F10 | c.1133A>T (p.Lys378Met) c.*124A>T (n.*124A>T) c.1001A>T (p.Lys334Met) | |
13 | g.113149184G>A | CA485424165 | F10 | c.1134G>A (p.Lys378=) c.*125G>A (n.*125G>A) c.1002G>A (p.Lys334=) | |
13 | g.113149184G>C | CA388793254 | F10 | c.1134G>C (p.Lys378Asn) c.*125G>C (n.*125G>C) c.1002G>C (p.Lys334Asn) | gnomAD v4 |
13 | g.113149184G>T | CA388793258 | F10 | c.1134G>T (p.Lys378Asn) c.*125G>T (n.*125G>T) c.1002G>T (p.Lys334Asn) | |
13 | g.113149185A>C | CA388793260 | F10 | c.1135A>C (p.Met379Leu) c.*126A>C (n.*126A>C) c.1003A>C (p.Met335Leu) | |
13 | g.113149185A>G | CA388793261 | F10 | c.1135A>G (p.Met379Val) c.*126A>G (n.*126A>G) c.1003A>G (p.Met335Val) | gnomAD v4 |
13 | g.113149185A>T | CA388793264 | F10 | c.1135A>T (p.Met379Leu) c.*126A>T (n.*126A>T) c.1003A>T (p.Met335Leu) | |
13 | g.113149186T>A | CA388793267 | F10 | c.1136T>A (p.Met379Lys) c.*127T>A (n.*127T>A) c.1004T>A (p.Met335Lys) | |
13 | g.113149186T>C | CA7060693 | F10 | c.1136T>C (p.Met379Thr) c.*127T>C (n.*127T>C) c.1004T>C (p.Met335Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149186T>G | CA388793271 | F10 | c.1136T>G (p.Met379Arg) c.*127T>G (n.*127T>G) c.1004T>G (p.Met335Arg) | |
13 | g.113149186T= | CA2120140294 | F10 | c.1136T= (p.Met379=) c.*127T= (n.*127T=) c.1004T= (p.Met335=) | |
13 | g.113149187G>A | CA388793277 | F10 | c.1137G>A (p.Met379Ile) c.*128G>A (n.*128G>A) c.1005G>A (p.Met335Ile) | |
13 | g.113149187G>C | CA388793279 | F10 | c.1137G>C (p.Met379Ile) c.*128G>C (n.*128G>C) c.1005G>C (p.Met335Ile) | |
13 | g.113149187G>T | CA388793282 | F10 | c.1137G>T (p.Met379Ile) c.*128G>T (n.*128G>T) c.1005G>T (p.Met335Ile) | |
13 | g.113149188C>A | CA388793285 | F10 | c.1138C>A (p.Leu380Met) c.*129C>A (n.*129C>A) c.1006C>A (p.Leu336Met) | |
13 | g.113149188C>G | CA388793287 | F10 | c.1138C>G (p.Leu380Val) c.*129C>G (n.*129C>G) c.1006C>G (p.Leu336Val) | |
13 | g.113149188C>T | CA485424169 | F10 | c.1138C>T (p.Leu380=) c.*129C>T (n.*129C>T) c.1006C>T (p.Leu336=) | gnomAD v4 |
13 | g.113149189T>A | CA388793288 | F10 | c.1139T>A (p.Leu380Gln) c.*130T>A (n.*130T>A) c.1007T>A (p.Leu336Gln) | |
13 | g.113149189T>C | CA388793294 | F10 | c.1139T>C (p.Leu380Pro) c.*130T>C (n.*130T>C) c.1007T>C (p.Leu336Pro) | |
13 | g.113149189T>G | CA388793291 | F10 | c.1139T>G (p.Leu380Arg) c.*130T>G (n.*130T>G) c.1007T>G (p.Leu336Arg) | |
13 | g.113149190G>A | CA485424174 | F10 | c.1140G>A (p.Leu380=) c.*131G>A (n.*131G>A) c.1008G>A (p.Leu336=) | |
13 | g.113149190G>C | CA485424173 | F10 | c.1140G>C (p.Leu380=) c.*131G>C (n.*131G>C) c.1008G>C (p.Leu336=) | |
13 | g.113149190G>T | CA485424172 | F10 | c.1140G>T (p.Leu380=) c.*131G>T (n.*131G>T) c.1008G>T (p.Leu336=) | |
13 | g.113149191del | CA2695219010 | F10 | c.1141del (p.Glu381ArgfsTer?) c.*132del (n.*132del) c.1009del (p.Glu337ArgfsTer?) | |
13 | g.113149191G>A | CA388793298 | F10 | c.1141G>A (p.Glu381Lys) c.*132G>A (n.*132G>A) c.1009G>A (p.Glu337Lys) | |
13 | g.113149191G>C | CA388793300 | F10 | c.1141G>C (p.Glu381Gln) c.*132G>C (n.*132G>C) c.1009G>C (p.Glu337Gln) | gnomAD v4 |
13 | g.113149191G>T | CA388793301 | F10 | c.1141G>T (p.Glu381Ter) c.*132G>T (n.*132G>T) c.1009G>T (p.Glu337Ter) | |
13 | g.113149192A= | CA2120140296 | F10 | c.1142A= (p.Glu381=) c.*133A= (n.*133A=) c.1010A= (p.Glu337=) | |
13 | g.113149192A>C | CA388793305 | F10 | c.1142A>C (p.Glu381Ala) c.*133A>C (n.*133A>C) c.1010A>C (p.Glu337Ala) | |
13 | g.113149192A>G | CA388793307 | F10 | c.1142A>G (p.Glu381Gly) c.*133A>G (n.*133A>G) c.1010A>G (p.Glu337Gly) | |
13 | g.113149192A>T | CA388793310 | F10 | c.1142A>T (p.Glu381Val) c.*133A>T (n.*133A>T) c.1010A>T (p.Glu337Val) | dbSNP gnomAD v4 |
13 | g.113149193G>A | CA485424176 | F10 | c.1143G>A (p.Glu381=) c.*134G>A (n.*134G>A) c.1011G>A (p.Glu337=) | |
13 | g.113149193G>C | CA388793313 | F10 | c.1143G>C (p.Glu381Asp) c.*134G>C (n.*134G>C) c.1011G>C (p.Glu337Asp) | |
13 | g.113149193G>T | CA388793316 | F10 | c.1143G>T (p.Glu381Asp) c.*134G>T (n.*134G>T) c.1011G>T (p.Glu337Asp) | |
13 | g.113149194G>A | CA388793319 | F10 | c.1144G>A (p.Val382Met) c.*135G>A (n.*135G>A) c.1012G>A (p.Val338Met) | |
13 | g.113149194G>C | CA388793321 | F10 | c.1144G>C (p.Val382Leu) c.*135G>C (n.*135G>C) c.1012G>C (p.Val338Leu) | |
13 | g.113149194G>T | CA388793323 | F10 | c.1144G>T (p.Val382Leu) c.*135G>T (n.*135G>T) c.1012G>T (p.Val338Leu) | gnomAD v4 |
13 | g.113149195T>A | CA388793332 | F10 | c.1145T>A (p.Val382Glu) c.*136T>A (n.*136T>A) c.1013T>A (p.Val338Glu) | |
13 | g.113149195T>C | CA388793329 | F10 | c.1145T>C (p.Val382Ala) c.*136T>C (n.*136T>C) c.1013T>C (p.Val338Ala) | dbSNP gnomAD v4 |
13 | g.113149195T>G | CA388793326 | F10 | c.1145T>G (p.Val382Gly) c.*136T>G (n.*136T>G) c.1013T>G (p.Val338Gly) | dbSNP |
13 | g.113149195T= | CA2120140298 | F10 | c.1145T= (p.Val382=) c.*136T= (n.*136T=) c.1013T= (p.Val338=) | |
13 | g.113149196G>A | CA485424181 | F10 | c.1146G>A (p.Val382=) c.*137G>A (n.*137G>A) c.1014G>A (p.Val338=) | |
13 | g.113149196G>C | CA485424182 | F10 | c.1146G>C (p.Val382=) c.*137G>C (n.*137G>C) c.1014G>C (p.Val338=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149196G= | CA2120140300 | F10 | c.1146G= (p.Val382=) c.*137G= (n.*137G=) c.1014G= (p.Val338=) | |
13 | g.113149196G>T | CA485424183 | F10 | c.1146G>T (p.Val382=) c.*137G>T (n.*137G>T) c.1014G>T (p.Val338=) | |
13 | g.113149197C>A | CA388793340 | F10 | c.1147C>A (p.Pro383Thr) c.*138C>A (n.*138C>A) c.1015C>A (p.Pro339Thr) | |
13 | g.113149197C= | CA2120140302 | F10 | c.1147C= (p.Pro383=) c.*138C= (n.*138C=) c.1015C= (p.Pro339=) | |
13 | g.113149197C>G | CA388793335 | F10 | c.1147C>G (p.Pro383Ala) c.*138C>G (n.*138C>G) c.1015C>G (p.Pro339Ala) | |
13 | g.113149197C>T | CA256478706 | F10 | c.1147C>T (p.Pro383Ser) c.*138C>T (n.*138C>T) c.1015C>T (p.Pro339Ser) | ClinVar dbSNP gnomAD v4 |
13 | g.113149198C>A | CA388793344 | F10 | c.1148C>A (p.Pro383His) c.*139C>A (n.*139C>A) c.1016C>A (p.Pro339His) | |
13 | g.113149198C>G | CA388793347 | F10 | c.1148C>G (p.Pro383Arg) c.*139C>G (n.*139C>G) c.1016C>G (p.Pro339Arg) | |
13 | g.113149198C>T | CA388793346 | F10 | c.1148C>T (p.Pro383Leu) c.*139C>T (n.*139C>T) c.1016C>T (p.Pro339Leu) | |
13 | g.113149199C>A | CA485424185 | F10 | c.1149C>A (p.Pro383=) c.*140C>A (n.*140C>A) c.1017C>A (p.Pro339=) | |
13 | g.113149199C>G | CA485424186 | F10 | c.1149C>G (p.Pro383=) c.*140C>G (n.*140C>G) c.1017C>G (p.Pro339=) | |
13 | g.113149199C>T | CA485424187 | F10 | c.1149C>T (p.Pro383=) c.*140C>T (n.*140C>T) c.1017C>T (p.Pro339=) | |
13 | g.113149200T>A | CA388793349 | F10 | c.1150T>A (p.Tyr384Asn) c.*141T>A (n.*141T>A) c.1018T>A (p.Tyr340Asn) | |
13 | g.113149200T>C | CA388793352 | F10 | c.1150T>C (p.Tyr384His) c.*141T>C (n.*141T>C) c.1018T>C (p.Tyr340His) | |
13 | g.113149200T>G | CA388793355 | F10 | c.1150T>G (p.Tyr384Asp) c.*141T>G (n.*141T>G) c.1018T>G (p.Tyr340Asp) | |
13 | g.113149200_113149217delinsTACGTGGACCGCAACAGC | CA2120140304 | F10 | c.1150_1167delinsTACGTGGACCGCAACAGC (p.Tyr384=) c.*141_*158delinsTACGTGGACCGCAACAGC (n.*141_*158delinsTACGTGGACCGCAACAGC) c.1018_1035delinsTACGTGGACCGCAACAGC (p.Tyr340=) | |
13 | g.113149201A= | CA2120140307 | F10 | c.1151A= (p.Tyr384=) c.*142A= (n.*142A=) c.1019A= (p.Tyr340=) | |
13 | g.113149201A>C | CA388793357 | F10 | c.1151A>C (p.Tyr384Ser) c.*142A>C (n.*142A>C) c.1019A>C (p.Tyr340Ser) | |
13 | g.113149201A>G | CA7060694 | F10 | c.1151A>G (p.Tyr384Cys) c.*142A>G (n.*142A>G) c.1019A>G (p.Tyr340Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149201A>T | CA388793359 | F10 | c.1151A>T (p.Tyr384Phe) c.*142A>T (n.*142A>T) c.1019A>T (p.Tyr340Phe) | gnomAD v4 |
13 | g.113149201_113149217del | CA612868319 | F10 | c.1151_1167del (p.Tyr384LeufsTer?) c.*142_*158del (n.*142_*158del) c.1019_1035del (p.Tyr340LeufsTer?) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149202C>A | CA388793365 | F10 | c.1152C>A (p.Tyr384Ter) c.*143C>A (n.*143C>A) c.1020C>A (p.Tyr340Ter) | dbSNP gnomAD v2 |
13 | g.113149202C= | CA2120140309 | F10 | c.1152C= (p.Tyr384=) c.*143C= (n.*143C=) c.1020C= (p.Tyr340=) | |
13 | g.113149202C>G | CA388793363 | F10 | c.1152C>G (p.Tyr384Ter) c.*143C>G (n.*143C>G) c.1020C>G (p.Tyr340Ter) | |
13 | g.113149202C>T | CA7060695 | F10 | c.1152C>T (p.Tyr384=) c.*143C>T (n.*143C>T) c.1020C>T (p.Tyr340=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149202_113149218del | CA658795160 | F10 | c.1152_1168del (p.Tyr384Ter) c.*143_*159del (n.*143_*159del) c.1020_1036del (p.Tyr340Ter) | |
13 | g.113149203G>A | CA7060696 | F10 | c.1153G>A (p.Val385Met) c.*144G>A (n.*144G>A) c.1021G>A (p.Val341Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149203G>C | CA388793369 | F10 | c.1153G>C (p.Val385Leu) c.*144G>C (n.*144G>C) c.1021G>C (p.Val341Leu) | |
13 | g.113149203G= | CA2120140312 | F10 | c.1153G= (p.Val385=) c.*144G= (n.*144G=) c.1021G= (p.Val341=) | |
13 | g.113149203G>T | CA388793370 | F10 | c.1153G>T (p.Val385Leu) c.*144G>T (n.*144G>T) c.1021G>T (p.Val341Leu) | |
13 | g.113149204T>A | CA388793372 | F10 | c.1154T>A (p.Val385Glu) c.*145T>A (n.*145T>A) c.1022T>A (p.Val341Glu) | |
13 | g.113149204T>C | CA388793373 | F10 | c.1154T>C (p.Val385Ala) c.*145T>C (n.*145T>C) c.1022T>C (p.Val341Ala) | |
13 | g.113149204T>G | CA388793375 | F10 | c.1154T>G (p.Val385Gly) c.*145T>G (n.*145T>G) c.1022T>G (p.Val341Gly) | |
13 | g.113149205G>A | CA485424194 | F10 | c.1155G>A (p.Val385=) c.*146G>A (n.*146G>A) c.1023G>A (p.Val341=) | |
13 | g.113149205G>C | CA485424192 | F10 | c.1155G>C (p.Val385=) c.*146G>C (n.*146G>C) c.1023G>C (p.Val341=) | |
13 | g.113149205G>T | CA485424193 | F10 | c.1155G>T (p.Val385=) c.*146G>T (n.*146G>T) c.1023G>T (p.Val341=) | |
13 | g.113149206G>A | CA388793376 | F10 | c.1156G>A (p.Asp386Asn) c.*147G>A (n.*147G>A) c.1024G>A (p.Asp342Asn) | |
13 | g.113149206G>C | CA388793382 | F10 | c.1156G>C (p.Asp386His) c.*147G>C (n.*147G>C) c.1024G>C (p.Asp342His) | |
13 | g.113149206G>T | CA388793378 | F10 | c.1156G>T (p.Asp386Tyr) c.*147G>T (n.*147G>T) c.1024G>T (p.Asp342Tyr) | |
13 | g.113149207A>C | CA388793388 | F10 | c.1157A>C (p.Asp386Ala) c.*148A>C (n.*148A>C) c.1025A>C (p.Asp342Ala) | gnomAD v4 |
13 | g.113149207A>G | CA388793390 | F10 | c.1157A>G (p.Asp386Gly) c.*148A>G (n.*148A>G) c.1025A>G (p.Asp342Gly) | |
13 | g.113149207A>T | CA388793393 | F10 | c.1157A>T (p.Asp386Val) c.*148A>T (n.*148A>T) c.1025A>T (p.Asp342Val) | |
13 | g.113149208C>A | CA388793395 | F10 | c.1158C>A (p.Asp386Glu) c.*149C>A (n.*149C>A) c.1026C>A (p.Asp342Glu) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149208C= | CA2120140315 | F10 | c.1158C= (p.Asp386=) c.*149C= (n.*149C=) c.1026C= (p.Asp342=) | |
13 | g.113149208C>G | CA388793397 | F10 | c.1158C>G (p.Asp386Glu) c.*149C>G (n.*149C>G) c.1026C>G (p.Asp342Glu) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149208C>T | CA485424196 | F10 | c.1158C>T (p.Asp386=) c.*149C>T (n.*149C>T) c.1026C>T (p.Asp342=) | gnomAD v4 |
13 | g.113149209C>A | CA388793399 | F10 | c.1159C>A (p.Arg387Ser) c.*150C>A (n.*150C>A) c.1027C>A (p.Arg343Ser) | |
13 | g.113149209C= | CA2120140319 | F10 | c.1159C= (p.Arg387=) c.*150C= (n.*150C=) c.1027C= (p.Arg343=) | |
13 | g.113149209C>G | CA388793401 | F10 | c.1159C>G (p.Arg387Gly) c.*150C>G (n.*150C>G) c.1027C>G (p.Arg343Gly) | gnomAD v4 |
13 | g.113149209C>T | CA7060697 | F10 | c.1159C>T (p.Arg387Cys) c.*150C>T (n.*150C>T) c.1027C>T (p.Arg343Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149210G>A | CA388793403 | F10 | c.1160G>A (p.Arg387His) c.*151G>A (n.*151G>A) c.1028G>A (p.Arg343His) | dbSNP gnomAD v4 COSMIC |
13 | g.113149210G>C | CA388793404 | F10 | c.1160G>C (p.Arg387Pro) c.*151G>C (n.*151G>C) c.1028G>C (p.Arg343Pro) | |
13 | g.113149210G= | CA2120140323 | F10 | c.1160G= (p.Arg387=) c.*151G= (n.*151G=) c.1028G= (p.Arg343=) | |
13 | g.113149210G>T | CA388793407 | F10 | c.1160G>T (p.Arg387Leu) c.*151G>T (n.*151G>T) c.1028G>T (p.Arg343Leu) | |
13 | g.113149211C>A | CA485424199 | F10 | c.1161C>A (p.Arg387=) c.*152C>A (n.*152C>A) c.1029C>A (p.Arg343=) | |
13 | g.113149211C>G | CA485424201 | F10 | c.1161C>G (p.Arg387=) c.*152C>G (n.*152C>G) c.1029C>G (p.Arg343=) | |
13 | g.113149211C>T | CA485424202 | F10 | c.1161C>T (p.Arg387=) c.*152C>T (n.*152C>T) c.1029C>T (p.Arg343=) | |
13 | g.113149212A>C | CA388793411 | F10 | c.1162A>C (p.Asn388His) c.*153A>C (n.*153A>C) c.1030A>C (p.Asn344His) | |
13 | g.113149212A>G | CA388793414 | F10 | c.1162A>G (p.Asn388Asp) c.*153A>G (n.*153A>G) c.1030A>G (p.Asn344Asp) | |
13 | g.113149212A>T | CA388793412 | F10 | c.1162A>T (p.Asn388Tyr) c.*153A>T (n.*153A>T) c.1030A>T (p.Asn344Tyr) | |
13 | g.113149213A= | CA2120140325 | F10 | c.1163A= (p.Asn388=) c.*154A= (n.*154A=) c.1031A= (p.Asn344=) | |
13 | g.113149213A>C | CA388793415 | F10 | c.1163A>C (p.Asn388Thr) c.*154A>C (n.*154A>C) c.1031A>C (p.Asn344Thr) | |
13 | g.113149213A>G | CA7060698 | F10 | c.1163A>G (p.Asn388Ser) c.*154A>G (n.*154A>G) c.1031A>G (p.Asn344Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149213A>T | CA388793418 | F10 | c.1163A>T (p.Asn388Ile) c.*154A>T (n.*154A>T) c.1031A>T (p.Asn344Ile) | |
13 | g.113149214C>A | CA7060699 | F10 | c.1164C>A (p.Asn388Lys) c.*155C>A (n.*155C>A) c.1032C>A (p.Asn344Lys) | dbSNP ExAC gnomAD v2 |
13 | g.113149214C= | CA2120140327 | F10 | c.1164C= (p.Asn388=) c.*155C= (n.*155C=) c.1032C= (p.Asn344=) | |
13 | g.113149214C>G | CA388793420 | F10 | c.1164C>G (p.Asn388Lys) c.*155C>G (n.*155C>G) c.1032C>G (p.Asn344Lys) | |
13 | g.113149214C>T | CA485424203 | F10 | c.1164C>T (p.Asn388=) c.*155C>T (n.*155C>T) c.1032C>T (p.Asn344=) | gnomAD v4 |
13 | g.113149215A= | CA2120140329 | F10 | c.1165A= (p.Ser389=) c.*156A= (n.*156A=) c.1033A= (p.Ser345=) | |
13 | g.113149215A>C | CA256478712 | F10 | c.1165A>C (p.Ser389Arg) c.*156A>C (n.*156A>C) c.1033A>C (p.Ser345Arg) | dbSNP |
13 | g.113149215A>G | CA388793423 | F10 | c.1165A>G (p.Ser389Gly) c.*156A>G (n.*156A>G) c.1033A>G (p.Ser345Gly) | |
13 | g.113149215A>T | CA388793425 | F10 | c.1165A>T (p.Ser389Cys) c.*156A>T (n.*156A>T) c.1033A>T (p.Ser345Cys) | |
13 | g.113149216G>A | CA388793428 | F10 | c.1166G>A (p.Ser389Asn) c.*157G>A (n.*157G>A) c.1034G>A (p.Ser345Asn) | |
13 | g.113149216G>C | CA388793429 | F10 | c.1166G>C (p.Ser389Thr) c.*157G>C (n.*157G>C) c.1034G>C (p.Ser345Thr) | gnomAD v4 |
13 | g.113149216G>T | CA388793432 | F10 | c.1166G>T (p.Ser389Ile) c.*157G>T (n.*157G>T) c.1034G>T (p.Ser345Ile) | |
13 | g.113149217C>A | CA388793434 | F10 | c.1167C>A (p.Ser389Arg) c.*158C>A (n.*158C>A) c.1035C>A (p.Ser345Arg) | |
13 | g.113149217C>G | CA388793435 | F10 | c.1167C>G (p.Ser389Arg) c.*158C>G (n.*158C>G) c.1035C>G (p.Ser345Arg) | |
13 | g.113149217C>T | CA485424205 | F10 | c.1167C>T (p.Ser389=) c.*158C>T (n.*158C>T) c.1035C>T (p.Ser345=) | |
13 | g.113149218T>A | CA388793438 | F10 | c.1168T>A (p.Cys390Ser) c.*159T>A (n.*159T>A) c.1036T>A (p.Cys346Ser) | |
13 | g.113149218T>C | CA388793442 | F10 | c.1168T>C (p.Cys390Arg) c.*159T>C (n.*159T>C) c.1036T>C (p.Cys346Arg) | |
13 | g.113149218T>G | CA388793440 | F10 | c.1168T>G (p.Cys390Gly) c.*159T>G (n.*159T>G) c.1036T>G (p.Cys346Gly) | |
13 | g.113149219G>A | CA388793444 | F10 | c.1169G>A (p.Cys390Tyr) c.*160G>A (n.*160G>A) c.1037G>A (p.Cys346Tyr) | gnomAD v4 |
13 | g.113149219G>C | CA388793446 | F10 | c.1169G>C (p.Cys390Ser) c.*160G>C (n.*160G>C) c.1037G>C (p.Cys346Ser) | gnomAD v4 |
13 | g.113149219G= | CA2120140333 | F10 | c.1169G= (p.Cys390=) c.*160G= (n.*160G=) c.1037G= (p.Cys346=) | |
13 | g.113149219G>T | CA7060700 | F10 | c.1169G>T (p.Cys390Phe) c.*160G>T (n.*160G>T) c.1037G>T (p.Cys346Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149220C>A | CA388793451 | F10 | c.1170C>A (p.Cys390Ter) c.*161C>A (n.*161C>A) c.1038C>A (p.Cys346Ter) | |
13 | g.113149220C>G | CA388793456 | F10 | c.1170C>G (p.Cys390Trp) c.*161C>G (n.*161C>G) c.1038C>G (p.Cys346Trp) | |
13 | g.113149220C>T | CA485424208 | F10 | c.1170C>T (p.Cys390=) c.*161C>T (n.*161C>T) c.1038C>T (p.Cys346=) | |
13 | g.113149221A>C | CA388793458 | F10 | c.1171A>C (p.Lys391Gln) c.*162A>C (n.*162A>C) c.1039A>C (p.Lys347Gln) | |
13 | g.113149221A>G | CA388793461 | F10 | c.1171A>G (p.Lys391Glu) c.*162A>G (n.*162A>G) c.1039A>G (p.Lys347Glu) | |
13 | g.113149221A>T | CA388793462 | F10 | c.1171A>T (p.Lys391Ter) c.*162A>T (n.*162A>T) c.1039A>T (p.Lys347Ter) | |
13 | g.113149222A>C | CA388793465 | F10 | c.1172A>C (p.Lys391Thr) c.*163A>C (n.*163A>C) c.1040A>C (p.Lys347Thr) | |
13 | g.113149222A>G | CA388793468 | F10 | c.1172A>G (p.Lys391Arg) c.*163A>G (n.*163A>G) c.1040A>G (p.Lys347Arg) | |
13 | g.113149222A>T | CA388793471 | F10 | c.1172A>T (p.Lys391Met) c.*163A>T (n.*163A>T) c.1040A>T (p.Lys347Met) | |
13 | g.113149223G>A | CA485424210 | F10 | c.1173G>A (p.Lys391=) c.*164G>A (n.*164G>A) c.1041G>A (p.Lys347=) | |
13 | g.113149223G>C | CA388793476 | F10 | c.1173G>C (p.Lys391Asn) c.*164G>C (n.*164G>C) c.1041G>C (p.Lys347Asn) | |
13 | g.113149223G>T | CA388793474 | F10 | c.1173G>T (p.Lys391Asn) c.*164G>T (n.*164G>T) c.1041G>T (p.Lys347Asn) | |
13 | g.113149224C>A | CA388793479 | F10 | c.1174C>A (p.Leu392Met) c.*165C>A (n.*165C>A) c.1042C>A (p.Leu348Met) | |
13 | g.113149224C>G | CA388793481 | F10 | c.1174C>G (p.Leu392Val) c.*165C>G (n.*165C>G) c.1042C>G (p.Leu348Val) | |
13 | g.113149224C>T | CA485424211 | F10 | c.1174C>T (p.Leu392=) c.*165C>T (n.*165C>T) c.1042C>T (p.Leu348=) | |
13 | g.113149225T>A | CA388793484 | F10 | c.1175T>A (p.Leu392Gln) c.*166T>A (n.*166T>A) c.1043T>A (p.Leu348Gln) | |
13 | g.113149225T>C | CA388793487 | F10 | c.1175T>C (p.Leu392Pro) c.*166T>C (n.*166T>C) c.1043T>C (p.Leu348Pro) | |
13 | g.113149225T>G | CA388793489 | F10 | c.1175T>G (p.Leu392Arg) c.*166T>G (n.*166T>G) c.1043T>G (p.Leu348Arg) | |
13 | g.113149226G>A | CA485424221 | F10 | c.1176G>A (p.Leu392=) c.*167G>A (n.*167G>A) c.1044G>A (p.Leu348=) | |
13 | g.113149226G>C | CA485424224 | F10 | c.1176G>C (p.Leu392=) c.*167G>C (n.*167G>C) c.1044G>C (p.Leu348=) | |
13 | g.113149226G>T | CA485424226 | F10 | c.1176G>T (p.Leu392=) c.*167G>T (n.*167G>T) c.1044G>T (p.Leu348=) | |
13 | g.113149227T>A | CA388793495 | F10 | c.1177T>A (p.Ser393Thr) c.*168T>A (n.*168T>A) c.1045T>A (p.Ser349Thr) | |
13 | g.113149227T>C | CA388793493 | F10 | c.1177T>C (p.Ser393Pro) c.*168T>C (n.*168T>C) c.1045T>C (p.Ser349Pro) | |
13 | g.113149227T>G | CA388793491 | F10 | c.1177T>G (p.Ser393Ala) c.*168T>G (n.*168T>G) c.1045T>G (p.Ser349Ala) | |
13 | g.113149228C>A | CA388793498 | F10 | c.1178C>A (p.Ser393Tyr) c.*169C>A (n.*169C>A) c.1046C>A (p.Ser349Tyr) | |
13 | g.113149228C>G | CA388793499 | F10 | c.1178C>G (p.Ser393Cys) c.*169C>G (n.*169C>G) c.1046C>G (p.Ser349Cys) | |
13 | g.113149228C>T | CA388793501 | F10 | c.1178C>T (p.Ser393Phe) c.*169C>T (n.*169C>T) c.1046C>T (p.Ser349Phe) |