Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.18787531G>A | CA506053070 | COMP | c.1095C>T (p.Asp365=) c.936C>T (p.Asp312=) c.996C>T (p.Asp332=) | dbSNP gnomAD v4 |
19 | g.18787531G>C | CA404887984 | COMP | c.1095C>G (p.Asp365Glu) c.936C>G (p.Asp312Glu) c.996C>G (p.Asp332Glu) | |
19 | g.18787531G= | CA2326526470 | COMP | c.1095C= (p.Asp365=) c.936C= (p.Asp312=) c.996C= (p.Asp332=) | |
19 | g.18787531G>T | CA404887986 | COMP | c.1095C>A (p.Asp365Glu) c.936C>A (p.Asp312Glu) c.996C>A (p.Asp332Glu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18787532T>A | CA404887987 | COMP | c.1094A>T (p.Asp365Val) c.935A>T (p.Asp312Val) c.995A>T (p.Asp332Val) | |
19 | g.18787532T>C | CA404887988 | COMP | c.1094A>G (p.Asp365Gly) c.935A>G (p.Asp312Gly) c.995A>G (p.Asp332Gly) | gnomAD v4 |
19 | g.18787532T>G | CA404887990 | COMP | c.1094A>C (p.Asp365Ala) c.935A>C (p.Asp312Ala) c.995A>C (p.Asp332Ala) | |
19 | g.18787533C>A | CA404887995 | COMP | c.1093G>T (p.Asp365Tyr) c.934G>T (p.Asp312Tyr) c.994G>T (p.Asp332Tyr) | |
19 | g.18787533C= | CA2326526471 | COMP | c.1093G= (p.Asp365=) c.934G= (p.Asp312=) c.994G= (p.Asp332=) | |
19 | g.18787533C>G | CA404887998 | COMP | c.1093G>C (p.Asp365His) c.934G>C (p.Asp312His) c.994G>C (p.Asp332His) | |
19 | g.18787533C>T | CA306256559 | COMP | c.1093G>A (p.Asp365Asn) c.934G>A (p.Asp312Asn) c.994G>A (p.Asp332Asn) | dbSNP gnomAD v4 |
19 | g.18787534C>A | CA404888004 | COMP | c.1092G>T (p.Gln364His) c.933G>T (p.Gln311His) c.993G>T (p.Gln331His) | |
19 | g.18787534C= | CA2326526472 | COMP | c.1092G= (p.Gln364=) c.933G= (p.Gln311=) c.993G= (p.Gln331=) | |
19 | g.18787534C>G | CA404888007 | COMP | c.1092G>C (p.Gln364His) c.933G>C (p.Gln311His) c.993G>C (p.Gln331His) | |
19 | g.18787534C>T | CA506053071 | COMP | c.1092G>A (p.Gln364=) c.933G>A (p.Gln311=) c.993G>A (p.Gln331=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18787535T>A | CA404888010 | COMP | c.1091A>T (p.Gln364Leu) c.932A>T (p.Gln311Leu) c.992A>T (p.Gln331Leu) | |
19 | g.18787535T>C | CA404888011 | COMP | c.1091A>G (p.Gln364Arg) c.932A>G (p.Gln311Arg) c.992A>G (p.Gln331Arg) | |
19 | g.18787535T>G | CA404888012 | COMP | c.1091A>C (p.Gln364Pro) c.932A>C (p.Gln311Pro) c.992A>C (p.Gln331Pro) | |
19 | g.18787536G>A | CA404888014 | COMP | c.1090C>T (p.Gln364Ter) c.931C>T (p.Gln311Ter) c.991C>T (p.Gln331Ter) | gnomAD v4 |
19 | g.18787536G>C | CA404888018 | COMP | c.1090C>G (p.Gln364Glu) c.931C>G (p.Gln311Glu) c.991C>G (p.Gln331Glu) | |
19 | g.18787536G>T | CA404888016 | COMP | c.1090C>A (p.Gln364Lys) c.931C>A (p.Gln311Lys) c.991C>A (p.Gln331Lys) | |
19 | g.18787537G>A | CA506053072 | COMP | c.1089C>T (p.Asp363=) c.930C>T (p.Asp310=) c.990C>T (p.Asp330=) | |
19 | g.18787537G>C | CA404888024 | COMP | c.1089C>G (p.Asp363Glu) c.930C>G (p.Asp310Glu) c.990C>G (p.Asp330Glu) | |
19 | g.18787537G>T | CA404888027 | COMP | c.1089C>A (p.Asp363Glu) c.930C>A (p.Asp310Glu) c.990C>A (p.Asp330Glu) | |
19 | g.18787538T>A | CA404888029 | COMP | c.1088A>T (p.Asp363Val) c.929A>T (p.Asp310Val) c.989A>T (p.Asp330Val) | |
19 | g.18787538T>C | CA404888032 | COMP | c.1088A>G (p.Asp363Gly) c.929A>G (p.Asp310Gly) c.989A>G (p.Asp330Gly) | |
19 | g.18787538T>G | CA404888034 | COMP | c.1088A>C (p.Asp363Ala) c.929A>C (p.Asp310Ala) c.989A>C (p.Asp330Ala) | |
19 | g.18787539C>A | CA404888038 | COMP | c.1087G>T (p.Asp363Tyr) c.928G>T (p.Asp310Tyr) c.988G>T (p.Asp330Tyr) | |
19 | g.18787539C>G | CA404888039 | COMP | c.1087G>C (p.Asp363His) c.928G>C (p.Asp310His) c.988G>C (p.Asp330His) | |
19 | g.18787539C>T | CA404888042 | COMP | c.1087G>A (p.Asp363Asn) c.928G>A (p.Asp310Asn) c.988G>A (p.Asp330Asn) | COSMIC |
19 | g.18787539_18787541delinsCTG | CA2326526473 | COMP | c.1085_1087delinsCAG (p.Thr362=) c.926_928delinsCAG (p.Thr309=) c.986_988delinsCAG (p.Thr329=) | |
19 | g.18787540T>A | CA506053073 | COMP | c.1086A>T (p.Thr362=) c.927A>T (p.Thr309=) c.987A>T (p.Thr329=) | |
19 | g.18787540T>C | CA506053074 | COMP | c.1086A>G (p.Thr362=) c.927A>G (p.Thr309=) c.987A>G (p.Thr329=) | dbSNP |
19 | g.18787540T>G | CA506053075 | COMP | c.1086A>C (p.Thr362=) c.927A>C (p.Thr309=) c.987A>C (p.Thr329=) | |
19 | g.18787540T= | CA2326526007 | COMP | c.1086A= (p.Thr362=) c.927A= (p.Thr309=) c.987A= (p.Thr329=) | |
19 | g.18787543_18787544del | CA783973147 | COMP | c.1085_1086del (p.Thr362ArgfsTer27) c.926_927del (p.Thr309ArgfsTer27) c.986_987del (p.Thr329ArgfsTer27) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18787541G>A | CA404888043 | COMP | c.1085C>T (p.Thr362Ile) c.926C>T (p.Thr309Ile) c.986C>T (p.Thr329Ile) | |
19 | g.18787541G>C | CA404888044 | COMP | c.1085C>G (p.Thr362Arg) c.926C>G (p.Thr309Arg) c.986C>G (p.Thr329Arg) | |
19 | g.18787541G>T | CA404888046 | COMP | c.1085C>A (p.Thr362Lys) c.926C>A (p.Thr309Lys) c.986C>A (p.Thr329Lys) | |
19 | g.18787542T>A | CA404888048 | COMP | c.1084A>T (p.Thr362Ser) c.925A>T (p.Thr309Ser) c.985A>T (p.Thr329Ser) | |
19 | g.18787542T>C | CA404888049 | COMP | c.1084A>G (p.Thr362Ala) c.925A>G (p.Thr309Ala) c.985A>G (p.Thr329Ala) | dbSNP |
19 | g.18787542T>G | CA404888052 | COMP | c.1084A>C (p.Thr362Pro) c.925A>C (p.Thr309Pro) c.985A>C (p.Thr329Pro) | |
19 | g.18787542T= | CA2326526009 | COMP | c.1084A= (p.Thr362=) c.925A= (p.Thr309=) c.985A= (p.Thr329=) | |
19 | g.18787543G>A | CA506053076 | COMP | c.1083C>T (p.Asp361=) c.924C>T (p.Asp308=) c.984C>T (p.Asp328=) | dbSNP |
19 | g.18787543G>C | CA404888054 | COMP | c.1083C>G (p.Asp361Glu) c.924C>G (p.Asp308Glu) c.984C>G (p.Asp328Glu) | gnomAD v4 |
19 | g.18787543G= | CA2326526010 | COMP | c.1083C= (p.Asp361=) c.924C= (p.Asp308=) c.984C= (p.Asp328=) | |
19 | g.18787543G>T | CA404888056 | COMP | c.1083C>A (p.Asp361Glu) c.924C>A (p.Asp308Glu) c.984C>A (p.Asp328Glu) | |
19 | g.18787544T>A | CA404888058 | COMP | c.1082A>T (p.Asp361Val) c.923A>T (p.Asp308Val) c.983A>T (p.Asp328Val) | |
19 | g.18787544T>C | CA404888060 | COMP | c.1082A>G (p.Asp361Gly) c.923A>G (p.Asp308Gly) c.983A>G (p.Asp328Gly) | |
19 | g.18787544T>G | CA404888061 | COMP | c.1082A>C (p.Asp361Ala) c.923A>C (p.Asp308Ala) c.983A>C (p.Asp328Ala) | |
19 | g.18787545C>A | CA404888064 | COMP | c.1081G>T (p.Asp361Tyr) c.922G>T (p.Asp308Tyr) c.982G>T (p.Asp328Tyr) | gnomAD v4 |
19 | g.18787545C>G | CA404888066 | COMP | c.1081G>C (p.Asp361His) c.922G>C (p.Asp308His) c.982G>C (p.Asp328His) | |
19 | g.18787545C>T | CA404888081 | COMP | c.1081G>A (p.Asp361Asn) c.922G>A (p.Asp308Asn) c.982G>A (p.Asp328Asn) | COSMIC |
19 | g.18787546del | CA2583622630 | COMP | c.1081del (p.Asp361ThrfsTer?) c.922del (p.Asp308ThrfsTer?) c.982del (p.Asp328ThrfsTer?) | gnomAD v4 |
19 | g.18787546C>A | CA404888082 | COMP | c.1080G>T (p.Lys360Asn) c.921G>T (p.Lys307Asn) c.981G>T (p.Lys327Asn) | |
19 | g.18787546C= | CA2326526011 | COMP | c.1080G= (p.Lys360=) c.921G= (p.Lys307=) c.981G= (p.Lys327=) | |
19 | g.18787546C>G | CA404888084 | COMP | c.1080G>C (p.Lys360Asn) c.921G>C (p.Lys307Asn) c.981G>C (p.Lys327Asn) | dbSNP |
19 | g.18787546C>T | CA506053077 | COMP | c.1080G>A (p.Lys360=) c.921G>A (p.Lys307=) c.981G>A (p.Lys327=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18787547T>A | CA404888087 | COMP | c.1079A>T (p.Lys360Met) c.920A>T (p.Lys307Met) c.980A>T (p.Lys327Met) | gnomAD v4 |
19 | g.18787547T>C | CA404888090 | COMP | c.1079A>G (p.Lys360Arg) c.920A>G (p.Lys307Arg) c.980A>G (p.Lys327Arg) | |
19 | g.18787547T>G | CA404888093 | COMP | c.1079A>C (p.Lys360Thr) c.920A>C (p.Lys307Thr) c.980A>C (p.Lys327Thr) | dbSNP gnomAD v4 |
19 | g.18787547T= | CA2326526012 | COMP | c.1079A= (p.Lys360=) c.920A= (p.Lys307=) c.980A= (p.Lys327=) | |
19 | g.18787550dup | CA2583622631 | COMP | c.1079dup (p.Asp361GlyfsTer29) c.920dup (p.Asp308GlyfsTer29) c.980dup (p.Asp328GlyfsTer29) | gnomAD v4 |
19 | g.18787548T>A | CA404888097 | COMP | c.1078A>T (p.Lys360Ter) c.919A>T (p.Lys307Ter) c.979A>T (p.Lys327Ter) | |
19 | g.18787548T>C | CA404888102 | COMP | c.1078A>G (p.Lys360Glu) c.919A>G (p.Lys307Glu) c.979A>G (p.Lys327Glu) | |
19 | g.18787548T>G | CA404888099 | COMP | c.1078A>C (p.Lys360Gln) c.919A>C (p.Lys307Gln) c.979A>C (p.Lys327Gln) | |
19 | g.18787549T>A | CA404888110 | COMP | c.1077A>T (p.Gln359His) c.918A>T (p.Gln306His) c.978A>T (p.Gln326His) | |
19 | g.18787549T>C | CA506053078 | COMP | c.1077A>G (p.Gln359=) c.918A>G (p.Gln306=) c.978A>G (p.Gln326=) | |
19 | g.18787549T>G | CA404888112 | COMP | c.1077A>C (p.Gln359His) c.918A>C (p.Gln306His) c.978A>C (p.Gln326His) | |
19 | g.18787550T>A | CA404888116 | COMP | c.1076A>T (p.Gln359Leu) c.917A>T (p.Gln306Leu) c.977A>T (p.Gln326Leu) | |
19 | g.18787550T>C | CA404888121 | COMP | c.1076A>G (p.Gln359Arg) c.917A>G (p.Gln306Arg) c.977A>G (p.Gln326Arg) | |
19 | g.18787550T>G | CA404888124 | COMP | c.1076A>C (p.Gln359Pro) c.917A>C (p.Gln306Pro) c.977A>C (p.Gln326Pro) | |
19 | g.18787551G>A | CA404888131 | COMP | c.1075C>T (p.Gln359Ter) c.916C>T (p.Gln306Ter) c.976C>T (p.Gln326Ter) | |
19 | g.18787551G>C | CA404888137 | COMP | c.1075C>G (p.Gln359Glu) c.916C>G (p.Gln306Glu) c.976C>G (p.Gln326Glu) | |
19 | g.18787551G>T | CA404888140 | COMP | c.1075C>A (p.Gln359Lys) c.916C>A (p.Gln306Lys) c.976C>A (p.Gln326Lys) | |
19 | g.18787552G>A | CA506053079 | COMP | c.1074C>T (p.Asp358=) c.915C>T (p.Asp305=) c.975C>T (p.Asp325=) | |
19 | g.18787552G>C | CA404888145 | COMP | c.1074C>G (p.Asp358Glu) c.915C>G (p.Asp305Glu) c.975C>G (p.Asp325Glu) | |
19 | g.18787552G>T | CA404888148 | COMP | c.1074C>A (p.Asp358Glu) c.915C>A (p.Asp305Glu) c.975C>A (p.Asp325Glu) | gnomAD v4 |
19 | g.18787553T>A | CA404888152 | COMP | c.1073A>T (p.Asp358Val) c.914A>T (p.Asp305Val) c.974A>T (p.Asp325Val) | |
19 | g.18787553T>C | CA404888154 | COMP | c.1073A>G (p.Asp358Gly) c.914A>G (p.Asp305Gly) c.974A>G (p.Asp325Gly) | |
19 | g.18787553T>G | CA404888157 | COMP | c.1073A>C (p.Asp358Ala) c.914A>C (p.Asp305Ala) c.974A>C (p.Asp325Ala) | |
19 | g.18787554C>A | CA404888162 | COMP | c.1072G>T (p.Asp358Tyr) c.913G>T (p.Asp305Tyr) c.973G>T (p.Asp325Tyr) | ClinVar dbSNP gnomAD v4 |
19 | g.18787554C= | CA2326526014 | COMP | c.1072G= (p.Asp358=) c.913G= (p.Asp305=) c.973G= (p.Asp325=) | |
19 | g.18787554C>G | CA9316547 | COMP | c.1072G>C (p.Asp358His) c.913G>C (p.Asp305His) c.973G>C (p.Asp325His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18787554C>T | CA404888158 | COMP | c.1072G>A (p.Asp358Asn) c.913G>A (p.Asp305Asn) c.973G>A (p.Asp325Asn) | |
19 | g.18787555G>A | CA506053081 | COMP | c.1071C>T (p.Asp357=) c.912C>T (p.Asp304=) c.972C>T (p.Asp324=) | gnomAD v4 |
19 | g.18787555G>C | CA404888164 | COMP | c.1071C>G (p.Asp357Glu) c.912C>G (p.Asp304Glu) c.972C>G (p.Asp324Glu) | |
19 | g.18787555G= | CA2326526016 | COMP | c.1071C= (p.Asp357=) c.912C= (p.Asp304=) c.972C= (p.Asp324=) | |
19 | g.18787555G>T | CA404888167 | COMP | c.1071C>A (p.Asp357Glu) c.912C>A (p.Asp304Glu) c.972C>A (p.Asp324Glu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18787556T>A | CA404888170 | COMP | c.1070A>T (p.Asp357Val) c.911A>T (p.Asp304Val) c.971A>T (p.Asp324Val) | |
19 | g.18787556T>C | CA404888173 | COMP | c.1070A>G (p.Asp357Gly) c.911A>G (p.Asp304Gly) c.971A>G (p.Asp324Gly) | |
19 | g.18787556T>G | CA404888174 | COMP | c.1070A>C (p.Asp357Ala) c.911A>C (p.Asp304Ala) c.971A>C (p.Asp324Ala) | |
19 | g.18787556_18787557delinsAA | CA2697556420 | COMP | c.1069_1070delinsTT (p.Asp357Phe) c.910_911delinsTT (p.Asp304Phe) c.970_971delinsTT (p.Asp324Phe) | ClinVar |
19 | g.18787557C>A | CA404888175 | COMP | c.1069G>T (p.Asp357Tyr) c.910G>T (p.Asp304Tyr) c.970G>T (p.Asp324Tyr) | |
19 | g.18787557C= | CA2326526019 | COMP | c.1069G= (p.Asp357=) c.910G= (p.Asp304=) c.970G= (p.Asp324=) | |
19 | g.18787557C>G | CA404888177 | COMP | c.1069G>C (p.Asp357His) c.910G>C (p.Asp304His) c.970G>C (p.Asp324His) | |
19 | g.18787557C>T | CA404888179 | COMP | c.1069G>A (p.Asp357Asn) c.910G>A (p.Asp304Asn) c.970G>A (p.Asp324Asn) | dbSNP |
19 | g.18787558G>A | CA506053082 | COMP | c.1068C>T (p.Asn356=) c.909C>T (p.Asn303=) c.969C>T (p.Asn323=) | dbSNP gnomAD v4 |
19 | g.18787558G>C | CA404888181 | COMP | c.1068C>G (p.Asn356Lys) c.909C>G (p.Asn303Lys) c.969C>G (p.Asn323Lys) | ClinVar dbSNP gnomAD v4 |
19 | g.18787558G= | CA2326526027 | COMP | c.1068C= (p.Asn356=) c.909C= (p.Asn303=) c.969C= (p.Asn323=) | |
19 | g.18787558G>T | CA404888184 | COMP | c.1068C>A (p.Asn356Lys) c.909C>A (p.Asn303Lys) c.969C>A (p.Asn323Lys) | dbSNP COSMIC |
19 | g.18787559T>A | CA404888190 | COMP | c.1067A>T (p.Asn356Ile) c.908A>T (p.Asn303Ile) c.968A>T (p.Asn323Ile) | |
19 | g.18787559T>C | CA9316548 | COMP | c.1067A>G (p.Asn356Ser) c.908A>G (p.Asn303Ser) c.968A>G (p.Asn323Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18787559T>G | CA404888192 | COMP | c.1067A>C (p.Asn356Thr) c.908A>C (p.Asn303Thr) c.968A>C (p.Asn323Thr) | |
19 | g.18787559T= | CA2326526029 | COMP | c.1067A= (p.Asn356=) c.908A= (p.Asn303=) c.968A= (p.Asn323=) | |
19 | g.18787560T>A | CA404888203 | COMP | c.1066A>T (p.Asn356Tyr) c.907A>T (p.Asn303Tyr) c.967A>T (p.Asn323Tyr) | |
19 | g.18787560T>C | CA404888206 | COMP | c.1066A>G (p.Asn356Asp) c.907A>G (p.Asn303Asp) c.967A>G (p.Asn323Asp) | |
19 | g.18787560T>G | CA404888195 | COMP | c.1066A>C (p.Asn356His) c.907A>C (p.Asn303His) c.967A>C (p.Asn323His) | |
19 | g.18787561del | CA2583622632 | COMP | c.1065del (p.Asn356ThrfsTer?) c.906del (p.Asn303ThrfsTer?) c.966del (p.Asn323ThrfsTer?) | gnomAD v4 |
19 | g.18787561C>A | CA404888211 | COMP | c.1065G>T (p.Lys355Asn) c.906G>T (p.Lys302Asn) c.966G>T (p.Lys322Asn) | gnomAD v4 |
19 | g.18787561C= | CA2326526031 | COMP | c.1065G= (p.Lys355=) c.906G= (p.Lys302=) c.966G= (p.Lys322=) | |
19 | g.18787561C>G | CA404888214 | COMP | c.1065G>C (p.Lys355Asn) c.906G>C (p.Lys302Asn) c.966G>C (p.Lys322Asn) | |
19 | g.18787561C>T | CA9316549 | COMP | c.1065G>A (p.Lys355=) c.906G>A (p.Lys302=) c.966G>A (p.Lys322=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18787562T>A | CA404888221 | COMP | c.1064A>T (p.Lys355Met) c.905A>T (p.Lys302Met) c.965A>T (p.Lys322Met) | |
19 | g.18787562T>C | CA404888223 | COMP | c.1064A>G (p.Lys355Arg) c.905A>G (p.Lys302Arg) c.965A>G (p.Lys322Arg) | gnomAD v4 |
19 | g.18787562T>G | CA404888226 | COMP | c.1064A>C (p.Lys355Thr) c.905A>C (p.Lys302Thr) c.965A>C (p.Lys322Thr) | |
19 | g.18787563T>A | CA404888229 | COMP | c.1063A>T (p.Lys355Ter) c.904A>T (p.Lys302Ter) c.964A>T (p.Lys322Ter) | |
19 | g.18787563T>C | CA404888230 | COMP | c.1063A>G (p.Lys355Glu) c.904A>G (p.Lys302Glu) c.964A>G (p.Lys322Glu) | |
19 | g.18787563T>G | CA404888234 | COMP | c.1063A>C (p.Lys355Gln) c.904A>C (p.Lys302Gln) c.964A>C (p.Lys322Gln) | |
19 | g.18787564C>A | CA404888237 | COMP | c.1062G>T (p.Gln354His) c.903G>T (p.Gln301His) c.963G>T (p.Gln321His) | |
19 | g.18787564C>G | CA404888254 | COMP | c.1062G>C (p.Gln354His) c.903G>C (p.Gln301His) c.963G>C (p.Gln321His) | |
19 | g.18787564C>T | CA506053083 | COMP | c.1062G>A (p.Gln354=) c.903G>A (p.Gln301=) c.963G>A (p.Gln321=) | |
19 | g.18787565T>A | CA404888264 | COMP | c.1061A>T (p.Gln354Leu) c.902A>T (p.Gln301Leu) c.962A>T (p.Gln321Leu) | |
19 | g.18787565T>C | CA404888262 | COMP | c.1061A>G (p.Gln354Arg) c.902A>G (p.Gln301Arg) c.962A>G (p.Gln321Arg) | |
19 | g.18787565T>G | CA404888260 | COMP | c.1061A>C (p.Gln354Pro) c.902A>C (p.Gln301Pro) c.962A>C (p.Gln321Pro) | |
19 | g.18787566G>A | CA404888268 | COMP | c.1060C>T (p.Gln354Ter) c.901C>T (p.Gln301Ter) c.961C>T (p.Gln321Ter) | |
19 | g.18787566G>C | CA404888275 | COMP | c.1060C>G (p.Gln354Glu) c.901C>G (p.Gln301Glu) c.961C>G (p.Gln321Glu) | |
19 | g.18787566G>T | CA404888278 | COMP | c.1060C>A (p.Gln354Lys) c.901C>A (p.Gln301Lys) c.961C>A (p.Gln321Lys) | |
19 | g.18787567G>A | CA9316550 | COMP | c.1059C>T (p.Ser353=) c.900C>T (p.Ser300=) c.960C>T (p.Ser320=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18787567G>C | CA506053084 | COMP | c.1059C>G (p.Ser353=) c.900C>G (p.Ser300=) c.960C>G (p.Ser320=) | |
19 | g.18787567G= | CA2326526034 | COMP | c.1059C= (p.Ser353=) c.900C= (p.Ser300=) c.960C= (p.Ser320=) | |
19 | g.18787567G>T | CA506053085 | COMP | c.1059C>A (p.Ser353=) c.900C>A (p.Ser300=) c.960C>A (p.Ser320=) | |
19 | g.18787568G>A | CA404888287 | COMP | c.1058C>T (p.Ser353Phe) c.899C>T (p.Ser300Phe) c.959C>T (p.Ser320Phe) | gnomAD v4 |
19 | g.18787568G>C | CA404888291 | COMP | c.1058C>G (p.Ser353Cys) c.899C>G (p.Ser300Cys) c.959C>G (p.Ser320Cys) | |
19 | g.18787568G>T | CA404888294 | COMP | c.1058C>A (p.Ser353Tyr) c.899C>A (p.Ser300Tyr) c.959C>A (p.Ser320Tyr) | COSMIC |
19 | g.18787569A= | CA2326526037 | COMP | c.1057T= (p.Ser353=) c.898T= (p.Ser300=) c.958T= (p.Ser320=) | |
19 | g.18787569A>C | CA404888303 | COMP | c.1057T>G (p.Ser353Ala) c.898T>G (p.Ser300Ala) c.958T>G (p.Ser320Ala) | |
19 | g.18787569A>G | CA404888305 | COMP | c.1057T>C (p.Ser353Pro) c.898T>C (p.Ser300Pro) c.958T>C (p.Ser320Pro) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18787569A>T | CA404888308 | COMP | c.1057T>A (p.Ser353Thr) c.898T>A (p.Ser300Thr) c.958T>A (p.Ser320Thr) | |
19 | g.18787570C>A | CA506053086 | COMP | c.1056G>T (p.Arg352=) c.897G>T (p.Arg299=) c.957G>T (p.Arg319=) | dbSNP gnomAD v4 |
19 | g.18787570C= | CA2326526040 | COMP | c.1056G= (p.Arg352=) c.897G= (p.Arg299=) c.957G= (p.Arg319=) | |
19 | g.18787570C>G | CA506053087 | COMP | c.1056G>C (p.Arg352=) c.897G>C (p.Arg299=) c.957G>C (p.Arg319=) | |
19 | g.18787570C>T | CA506053088 | COMP | c.1056G>A (p.Arg352=) c.897G>A (p.Arg299=) c.957G>A (p.Arg319=) | gnomAD v4 |
19 | g.18787571C>A | CA404888313 | COMP | c.1055G>T (p.Arg352Leu) c.896G>T (p.Arg299Leu) c.956G>T (p.Arg319Leu) | |
19 | g.18787571C= | CA2326526041 | COMP | c.1055G= (p.Arg352=) c.896G= (p.Arg299=) c.956G= (p.Arg319=) | |
19 | g.18787571C>G | CA9316552 | COMP | c.1055G>C (p.Arg352Pro) c.896G>C (p.Arg299Pro) c.956G>C (p.Arg319Pro) | dbSNP ExAC |
19 | g.18787571C>T | CA9316551 | COMP | c.1055G>A (p.Arg352Gln) c.896G>A (p.Arg299Gln) c.956G>A (p.Arg319Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18787572G>A | CA9316553 | COMP | c.1054C>T (p.Arg352Trp) c.895C>T (p.Arg299Trp) c.955C>T (p.Arg319Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18787572G>C | CA404888325 | COMP | c.1054C>G (p.Arg352Gly) c.895C>G (p.Arg299Gly) c.955C>G (p.Arg319Gly) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18787572G= | CA2326526044 | COMP | c.1054C= (p.Arg352=) c.895C= (p.Arg299=) c.955C= (p.Arg319=) | |
19 | g.18787572G>T | CA506053089 | COMP | c.1054C>A (p.Arg352=) c.895C>A (p.Arg299=) c.955C>A (p.Arg319=) | |
19 | g.18787573G>A | CA506053090 | COMP | c.1053C>T (p.Cys351=) c.894C>T (p.Cys298=) c.954C>T (p.Cys318=) | |
19 | g.18787573G>C | CA404888330 | COMP | c.1053C>G (p.Cys351Trp) c.894C>G (p.Cys298Trp) c.954C>G (p.Cys318Trp) | |
19 | g.18787573G>T | CA404888334 | COMP | c.1053C>A (p.Cys351Ter) c.894C>A (p.Cys298Ter) c.954C>A (p.Cys318Ter) | |
19 | g.18787574C>A | CA404888337 | COMP | c.1052G>T (p.Cys351Phe) c.893G>T (p.Cys298Phe) c.953G>T (p.Cys318Phe) | |
19 | g.18787574C>G | CA404888343 | COMP | c.1052G>C (p.Cys351Ser) c.893G>C (p.Cys298Ser) c.953G>C (p.Cys318Ser) | |
19 | g.18787574C>T | CA404888339 | COMP | c.1052G>A (p.Cys351Tyr) c.893G>A (p.Cys298Tyr) c.953G>A (p.Cys318Tyr) | ClinVar |
19 | g.18787575A>C | CA404888347 | COMP | c.1051T>G (p.Cys351Gly) c.892T>G (p.Cys298Gly) c.952T>G (p.Cys318Gly) | |
19 | g.18787575A>G | CA404888350 | COMP | c.1051T>C (p.Cys351Arg) c.892T>C (p.Cys298Arg) c.952T>C (p.Cys318Arg) | ClinVar dbSNP |
19 | g.18787575A>T | CA404888352 | COMP | c.1051T>A (p.Cys351Ser) c.892T>A (p.Cys298Ser) c.952T>A (p.Cys318Ser) | |
19 | g.18787576G>A | CA506053091 | COMP | c.1050C>T (p.Asn350=) c.891C>T (p.Asn297=) c.951C>T (p.Asn317=) | |
19 | g.18787576G>C | CA404888357 | COMP | c.1050C>G (p.Asn350Lys) c.891C>G (p.Asn297Lys) c.951C>G (p.Asn317Lys) | |
19 | g.18787576G>T | CA404888358 | COMP | c.1050C>A (p.Asn350Lys) c.891C>A (p.Asn297Lys) c.951C>A (p.Asn317Lys) | |
19 | g.18787577T>A | CA404888362 | COMP | c.1049A>T (p.Asn350Ile) c.890A>T (p.Asn297Ile) c.950A>T (p.Asn317Ile) | |
19 | g.18787577T>C | CA404888363 | COMP | c.1049A>G (p.Asn350Ser) c.890A>G (p.Asn297Ser) c.950A>G (p.Asn317Ser) | dbSNP gnomAD v4 |
19 | g.18787577T>G | CA404888367 | COMP | c.1049A>C (p.Asn350Thr) c.890A>C (p.Asn297Thr) c.950A>C (p.Asn317Thr) | ClinVar dbSNP |
19 | g.18787577T= | CA2326526047 | COMP | c.1049A= (p.Asn350=) c.890A= (p.Asn297=) c.950A= (p.Asn317=) | |
19 | g.18787578T>A | CA404888375 | COMP | c.1048A>T (p.Asn350Tyr) c.889A>T (p.Asn297Tyr) c.949A>T (p.Asn317Tyr) | |
19 | g.18787578T>C | CA404888384 | COMP | c.1048A>G (p.Asn350Asp) c.889A>G (p.Asn297Asp) c.949A>G (p.Asn317Asp) | |
19 | g.18787578T>G | CA404888386 | COMP | c.1048A>C (p.Asn350His) c.889A>C (p.Asn297His) c.949A>C (p.Asn317His) | |
19 | g.18787579G>A | CA506053092 | COMP | c.1047C>T (p.Asp349=) c.888C>T (p.Asp296=) c.948C>T (p.Asp316=) | dbSNP |
19 | g.18787579G>C | CA404888395 | COMP | c.1047C>G (p.Asp349Glu) c.888C>G (p.Asp296Glu) c.948C>G (p.Asp316Glu) | |
19 | g.18787579G= | CA2326526049 | COMP | c.1047C= (p.Asp349=) c.888C= (p.Asp296=) c.948C= (p.Asp316=) | |
19 | g.18787579G>T | CA404888391 | COMP | c.1047C>A (p.Asp349Glu) c.888C>A (p.Asp296Glu) c.948C>A (p.Asp316Glu) | |
19 | g.18787580T>A | CA404888408 | COMP | c.1046A>T (p.Asp349Val) c.887A>T (p.Asp296Val) c.947A>T (p.Asp316Val) | |
19 | g.18787580T>C | CA404888423 | COMP | c.1046A>G (p.Asp349Gly) c.887A>G (p.Asp296Gly) c.947A>G (p.Asp316Gly) | |
19 | g.18787580T>G | CA404888425 | COMP | c.1046A>C (p.Asp349Ala) c.887A>C (p.Asp296Ala) c.947A>C (p.Asp316Ala) | |
19 | g.18787581C>A | CA404888429 | COMP | c.1045G>T (p.Asp349Tyr) c.886G>T (p.Asp296Tyr) c.946G>T (p.Asp316Tyr) | |
19 | g.18787581C>G | CA404888430 | COMP | c.1045G>C (p.Asp349His) c.886G>C (p.Asp296His) c.946G>C (p.Asp316His) | ClinVar |
19 | g.18787581C>T | CA404888431 | COMP | c.1045G>A (p.Asp349Asn) c.886G>A (p.Asp296Asn) c.946G>A (p.Asp316Asn) | ClinVar dbSNP COSMIC |
19 | g.18787582G>A | CA506053093 | COMP | c.1044C>T (p.Cys348=) c.885C>T (p.Cys295=) c.945C>T (p.Cys315=) | gnomAD v4 |
19 | g.18787582G>C | CA404888432 | COMP | c.1044C>G (p.Cys348Trp) c.885C>G (p.Cys295Trp) c.945C>G (p.Cys315Trp) | |
19 | g.18787582G= | CA2326526053 | COMP | c.1044C= (p.Cys348=) c.885C= (p.Cys295=) c.945C= (p.Cys315=) | |
19 | g.18787582G>T | CA9316554 | COMP | c.1044C>A (p.Cys348Ter) c.885C>A (p.Cys295Ter) c.945C>A (p.Cys315Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18787583C>A | CA404888442 | COMP | c.1043G>T (p.Cys348Phe) c.884G>T (p.Cys295Phe) c.944G>T (p.Cys315Phe) | |
19 | g.18787583C>G | CA404888450 | COMP | c.1043G>C (p.Cys348Ser) c.884G>C (p.Cys295Ser) c.944G>C (p.Cys315Ser) | |
19 | g.18787583C>T | CA404888452 | COMP | c.1043G>A (p.Cys348Tyr) c.884G>A (p.Cys295Tyr) c.944G>A (p.Cys315Tyr) | ClinVar dbSNP |
19 | g.18787584A= | CA2326526060 | COMP | c.1042T= (p.Cys348=) c.883T= (p.Cys295=) c.943T= (p.Cys315=) | |
19 | g.18787584A>C | CA404888456 | COMP | c.1042T>G (p.Cys348Gly) c.883T>G (p.Cys295Gly) c.943T>G (p.Cys315Gly) | |
19 | g.18787584A>G | CA254703 | COMP | c.1042T>C (p.Cys348Arg) c.883T>C (p.Cys295Arg) c.943T>C (p.Cys315Arg) | ClinVar dbSNP |
19 | g.18787584A>T | CA404888453 | COMP | c.1042T>A (p.Cys348Ser) c.883T>A (p.Cys295Ser) c.943T>A (p.Cys315Ser) | |
19 | g.18787585C>A | CA506053094 | COMP | c.1041G>T (p.Ala347=) c.882G>T (p.Ala294=) c.942G>T (p.Ala314=) | gnomAD v4 |
19 | g.18787585C>G | CA506053096 | COMP | c.1041G>C (p.Ala347=) c.882G>C (p.Ala294=) c.942G>C (p.Ala314=) | |
19 | g.18787585C>T | CA506053095 | COMP | c.1041G>A (p.Ala347=) c.882G>A (p.Ala294=) c.942G>A (p.Ala314=) | gnomAD v4 |
19 | g.18787586G>A | CA404888461 | COMP | c.1040C>T (p.Ala347Val) c.881C>T (p.Ala294Val) c.941C>T (p.Ala314Val) | gnomAD v4 |
19 | g.18787586G>C | CA404888463 | COMP | c.1040C>G (p.Ala347Gly) c.881C>G (p.Ala294Gly) c.941C>G (p.Ala314Gly) | |
19 | g.18787586G= | CA2326526064 | COMP | c.1040C= (p.Ala347=) c.881C= (p.Ala294=) c.941C= (p.Ala314=) | |
19 | g.18787586G>T | CA9316555 | COMP | c.1040C>A (p.Ala347Glu) c.881C>A (p.Ala294Glu) c.941C>A (p.Ala314Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18787587C>A | CA404888466 | COMP | c.1039G>T (p.Ala347Ser) c.880G>T (p.Ala294Ser) c.940G>T (p.Ala314Ser) | |
19 | g.18787587C= | CA2326526067 | COMP | c.1039G= (p.Ala347=) c.880G= (p.Ala294=) c.940G= (p.Ala314=) | |
19 | g.18787587C>G | CA404888468 | COMP | c.1039G>C (p.Ala347Pro) c.880G>C (p.Ala294Pro) c.940G>C (p.Ala314Pro) | dbSNP |
19 | g.18787587C>T | CA404888472 | COMP | c.1039G>A (p.Ala347Thr) c.880G>A (p.Ala294Thr) c.940G>A (p.Ala314Thr) | gnomAD v4 |
19 | g.18787588A>C | CA404888480 | COMP | c.1038T>G (p.Asp346Glu) c.879T>G (p.Asp293Glu) c.939T>G (p.Asp313Glu) | |
19 | g.18787588A>G | CA506053097 | COMP | c.1038T>C (p.Asp346=) c.879T>C (p.Asp293=) c.939T>C (p.Asp313=) | |
19 | g.18787588A>T | CA404888479 | COMP | c.1038T>A (p.Asp346Glu) c.879T>A (p.Asp293Glu) c.939T>A (p.Asp313Glu) | |
19 | g.18787589T>A | CA404888484 | COMP | c.1037A>T (p.Asp346Val) c.878A>T (p.Asp293Val) c.938A>T (p.Asp313Val) | dbSNP |
19 | g.18787589T>C | CA404888485 | COMP | c.1037A>G (p.Asp346Gly) c.878A>G (p.Asp293Gly) c.938A>G (p.Asp313Gly) | |
19 | g.18787589T>G | CA404888487 | COMP | c.1037A>C (p.Asp346Ala) c.878A>C (p.Asp293Ala) c.938A>C (p.Asp313Ala) | |
19 | g.18787589T= | CA2326526069 | COMP | c.1037A= (p.Asp346=) c.878A= (p.Asp293=) c.938A= (p.Asp313=) | |
19 | g.18787590C>A | CA9316556 | COMP | c.1036G>T (p.Asp346Tyr) c.877G>T (p.Asp293Tyr) c.937G>T (p.Asp313Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18787590C= | CA2326526072 | COMP | c.1036G= (p.Asp346=) c.877G= (p.Asp293=) c.937G= (p.Asp313=) | |
19 | g.18787590C>G | CA404888492 | COMP | c.1036G>C (p.Asp346His) c.877G>C (p.Asp293His) c.937G>C (p.Asp313His) | |
19 | g.18787590C>T | CA404888494 | COMP | c.1036G>A (p.Asp346Asn) c.877G>A (p.Asp293Asn) c.937G>A (p.Asp313Asn) | |
19 | g.18787591G>A | CA506053098 | COMP | c.1035C>T (p.Gly345=) c.876C>T (p.Gly292=) c.936C>T (p.Gly312=) | |
19 | g.18787591G>C | CA506053099 | COMP | c.1035C>G (p.Gly345=) c.876C>G (p.Gly292=) c.936C>G (p.Gly312=) | |
19 | g.18787591G= | CA2326526074 | COMP | c.1035C= (p.Gly345=) c.876C= (p.Gly292=) c.936C= (p.Gly312=) | |
19 | g.18787591G>T | CA506053100 | COMP | c.1035C>A (p.Gly345=) c.876C>A (p.Gly292=) c.936C>A (p.Gly312=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18787592C>A | CA404888497 | COMP | c.1034G>T (p.Gly345Val) c.875G>T (p.Gly292Val) c.935G>T (p.Gly312Val) | |
19 | g.18787592C>G | CA404888500 | COMP | c.1034G>C (p.Gly345Ala) c.875G>C (p.Gly292Ala) c.935G>C (p.Gly312Ala) | |
19 | g.18787592C>T | CA404888499 | COMP | c.1034G>A (p.Gly345Asp) c.875G>A (p.Gly292Asp) c.935G>A (p.Gly312Asp) | |
19 | g.18787593_18787595del | CA2695228441 | COMP | c.1032_1034del (p.Trp344_Gly345delinsCys) c.873_875del (p.Trp291_Gly292delinsCys) c.933_935del (p.Trp311_Gly312delinsCys) | |
19 | g.18787593C>A | CA404888504 | COMP | c.1033G>T (p.Gly345Cys) c.874G>T (p.Gly292Cys) c.934G>T (p.Gly312Cys) | |
19 | g.18787593C>G | CA404888507 | COMP | c.1033G>C (p.Gly345Arg) c.874G>C (p.Gly292Arg) c.934G>C (p.Gly312Arg) | |
19 | g.18787593C>T | CA404888509 | COMP | c.1033G>A (p.Gly345Ser) c.874G>A (p.Gly292Ser) c.934G>A (p.Gly312Ser) | |
19 | g.18787594C>A | CA404888512 | COMP | c.1032G>T (p.Trp344Cys) c.873G>T (p.Trp291Cys) c.933G>T (p.Trp311Cys) | |
19 | g.18787594C= | CA2326526078 | COMP | c.1032G= (p.Trp344=) c.873G= (p.Trp291=) c.933G= (p.Trp311=) | |
19 | g.18787594C>G | CA404888514 | COMP | c.1032G>C (p.Trp344Cys) c.873G>C (p.Trp291Cys) c.933G>C (p.Trp311Cys) | gnomAD v4 |
19 | g.18787594C>T | CA404888522 | COMP | c.1032G>A (p.Trp344Ter) c.873G>A (p.Trp291Ter) c.933G>A (p.Trp311Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18787595C>A | CA404888526 | COMP | c.1031G>T (p.Trp344Leu) c.872G>T (p.Trp291Leu) c.932G>T (p.Trp311Leu) | gnomAD v4 |
19 | g.18787595C= | CA2326526081 | COMP | c.1031G= (p.Trp344=) c.872G= (p.Trp291=) c.932G= (p.Trp311=) | |
19 | g.18787595C>G | CA9316557 | COMP | c.1031G>C (p.Trp344Ser) c.872G>C (p.Trp291Ser) c.932G>C (p.Trp311Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18787595C>T | CA404888530 | COMP | c.1031G>A (p.Trp344Ter) c.872G>A (p.Trp291Ter) c.932G>A (p.Trp311Ter) | |
19 | g.18787596A= | CA2326526084 | COMP | c.1030T= (p.Trp344=) c.871T= (p.Trp291=) c.931T= (p.Trp311=) | |
19 | g.18787596A>C | CA404888531 | COMP | c.1030T>G (p.Trp344Gly) c.871T>G (p.Trp291Gly) c.931T>G (p.Trp311Gly) | dbSNP |
19 | g.18787596A>G | CA404888532 | COMP | c.1030T>C (p.Trp344Arg) c.871T>C (p.Trp291Arg) c.931T>C (p.Trp311Arg) | gnomAD v4 |
19 | g.18787596A>T | CA404888534 | COMP | c.1030T>A (p.Trp344Arg) c.871T>A (p.Trp291Arg) c.931T>A (p.Trp311Arg) | gnomAD v4 |
19 | g.18787597C>A | CA404888539 | COMP | c.1029G>T (p.Lys343Asn) c.870G>T (p.Lys290Asn) c.930G>T (p.Lys310Asn) | |
19 | g.18787597C>G | CA404888537 | COMP | c.1029G>C (p.Lys343Asn) c.870G>C (p.Lys290Asn) c.930G>C (p.Lys310Asn) | |
19 | g.18787597C>T | CA506053101 | COMP | c.1029G>A (p.Lys343=) c.870G>A (p.Lys290=) c.930G>A (p.Lys310=) | |
19 | g.18787598T>A | CA404888543 | COMP | c.1028A>T (p.Lys343Met) c.869A>T (p.Lys290Met) c.929A>T (p.Lys310Met) | |
19 | g.18787598T>C | CA404888547 | COMP | c.1028A>G (p.Lys343Arg) c.869A>G (p.Lys290Arg) c.929A>G (p.Lys310Arg) | |
19 | g.18787598T>G | CA404888545 | COMP | c.1028A>C (p.Lys343Thr) c.869A>C (p.Lys290Thr) c.929A>C (p.Lys310Thr) | |
19 | g.18787599T>A | CA404888552 | COMP | c.1027A>T (p.Lys343Ter) c.868A>T (p.Lys290Ter) c.928A>T (p.Lys310Ter) | |
19 | g.18787599T>C | CA404888562 | COMP | c.1027A>G (p.Lys343Glu) c.868A>G (p.Lys290Glu) c.928A>G (p.Lys310Glu) | |
19 | g.18787599T>G | CA404888566 | COMP | c.1027A>C (p.Lys343Gln) c.868A>C (p.Lys290Gln) c.928A>C (p.Lys310Gln) | |
19 | g.18787600_18787601del | CA2583622633 | COMP | c.1026_1027del (p.Asp342GlufsTer?) c.867_868del (p.Asp289GlufsTer?) c.927_928del (p.Asp309GlufsTer?) | gnomAD v4 |
19 | g.18787599_18787605delinsTGTCCTC | CA2326526086 | COMP | c.1021_1027delinsGAGGACA (p.Glu341=) c.862_868delinsGAGGACA (p.Glu288=) c.922_928delinsGAGGACA (p.Glu308=) | |
19 | g.18787600G>A | CA506053102 | COMP | c.1026C>T (p.Asp342=) c.867C>T (p.Asp289=) c.927C>T (p.Asp309=) | |
19 | g.18787600G>C | CA404888571 | COMP | c.1026C>G (p.Asp342Glu) c.867C>G (p.Asp289Glu) c.927C>G (p.Asp309Glu) | |
19 | g.18787600G>T | CA404888587 | COMP | c.1026C>A (p.Asp342Glu) c.867C>A (p.Asp289Glu) c.927C>A (p.Asp309Glu) | |
19 | g.18787604_18787609del | CA16620814 | COMP | c.1021_1026del (p.Glu341_Asp342del) c.862_867del (p.Glu288_Asp289del) c.922_927del (p.Glu308_Asp309del) | ClinVar dbSNP |
19 | g.18787601T>A | CA404888594 | COMP | c.1025A>T (p.Asp342Val) c.866A>T (p.Asp289Val) c.926A>T (p.Asp309Val) | |
19 | g.18787601T>C | CA404888597 | COMP | c.1025A>G (p.Asp342Gly) c.866A>G (p.Asp289Gly) c.926A>G (p.Asp309Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18787601T>G | CA404888601 | COMP | c.1025A>C (p.Asp342Ala) c.866A>C (p.Asp289Ala) c.926A>C (p.Asp309Ala) | |
19 | g.18787601T= | CA2326526094 | COMP | c.1025A= (p.Asp342=) c.866A= (p.Asp289=) c.926A= (p.Asp309=) | |
19 | g.18787603_18787605del | CA2695228442 | COMP | c.1023_1025del (p.Glu341del) c.864_866del (p.Glu288del) c.924_926del (p.Glu308del) | |
19 | g.18787602C>A | CA120166 | COMP | c.1024G>T (p.Asp342Tyr) c.865G>T (p.Asp289Tyr) c.925G>T (p.Asp309Tyr) | ClinVar dbSNP |
19 | g.18787602C= | CA2326526099 | COMP | c.1024G= (p.Asp342=) c.865G= (p.Asp289=) c.925G= (p.Asp309=) | |
19 | g.18787602C>G | CA404888619 | COMP | c.1024G>C (p.Asp342His) c.865G>C (p.Asp289His) c.925G>C (p.Asp309His) | |
19 | g.18787602C>T | CA404888622 | COMP | c.1024G>A (p.Asp342Asn) c.865G>A (p.Asp289Asn) c.925G>A (p.Asp309Asn) | |
19 | g.18787603C>A | CA404888625 | COMP | c.1023G>T (p.Glu341Asp) c.864G>T (p.Glu288Asp) c.924G>T (p.Glu308Asp) | |
19 | g.18787603C>G | CA404888626 | COMP | c.1023G>C (p.Glu341Asp) c.864G>C (p.Glu288Asp) c.924G>C (p.Glu308Asp) | |
19 | g.18787603C>T | CA506053103 | COMP | c.1023G>A (p.Glu341=) c.864G>A (p.Glu288=) c.924G>A (p.Glu308=) | |
19 | g.18787604T>A | CA404888631 | COMP | c.1022A>T (p.Glu341Val) c.863A>T (p.Glu288Val) c.923A>T (p.Glu308Val) | |
19 | g.18787604T>C | CA404888628 | COMP | c.1022A>G (p.Glu341Gly) c.863A>G (p.Glu288Gly) c.923A>G (p.Glu308Gly) | dbSNP |
19 | g.18787604T>G | CA404888629 | COMP | c.1022A>C (p.Glu341Ala) c.863A>C (p.Glu288Ala) c.923A>C (p.Glu308Ala) | |
19 | g.18787604T= | CA2326526106 | COMP | c.1022A= (p.Glu341=) c.863A= (p.Glu288=) c.923A= (p.Glu308=) | |
19 | g.18787605C>A | CA404888632 | COMP | c.1021G>T (p.Glu341Ter) c.862G>T (p.Glu288Ter) c.922G>T (p.Glu308Ter) | |
19 | g.18787605C= | CA2326526114 | COMP | c.1021G= (p.Glu341=) c.862G= (p.Glu288=) c.922G= (p.Glu308=) | |
19 | g.18787605C>G | CA404888635 | COMP | c.1021G>C (p.Glu341Gln) c.862G>C (p.Glu288Gln) c.922G>C (p.Glu308Gln) | gnomAD v4 |
19 | g.18787605C>T | CA9316558 | COMP | c.1021G>A (p.Glu341Lys) c.862G>A (p.Glu288Lys) c.922G>A (p.Glu308Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.18787606G>A | CA506053104 | COMP | c.1020C>T (p.Asp340=) c.861C>T (p.Asp287=) c.921C>T (p.Asp307=) | gnomAD v4 |
19 | g.18787606G>C | CA306256700 | COMP | c.1020C>G (p.Asp340Glu) c.861C>G (p.Asp287Glu) c.921C>G (p.Asp307Glu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18787606G= | CA2326526116 | COMP | c.1020C= (p.Asp340=) c.861C= (p.Asp287=) c.921C= (p.Asp307=) | |
19 | g.18787606G>T | CA404888639 | COMP | c.1020C>A (p.Asp340Glu) c.861C>A (p.Asp287Glu) c.921C>A (p.Asp307Glu) | |
19 | g.18787607T>A | CA404888642 | COMP | c.1019A>T (p.Asp340Val) c.860A>T (p.Asp287Val) c.920A>T (p.Asp307Val) | |
19 | g.18787607T>C | CA404888644 | COMP | c.1019A>G (p.Asp340Gly) c.860A>G (p.Asp287Gly) c.920A>G (p.Asp307Gly) | |
19 | g.18787607T>G | CA404888646 | COMP | c.1019A>C (p.Asp340Ala) c.860A>C (p.Asp287Ala) c.920A>C (p.Asp307Ala) | |
19 | g.18787608C>A | CA404888648 | COMP | c.1018G>T (p.Asp340Tyr) c.859G>T (p.Asp287Tyr) c.919G>T (p.Asp307Tyr) | |
19 | g.18787608C>G | CA404888649 | COMP | c.1018G>C (p.Asp340His) c.859G>C (p.Asp287His) c.919G>C (p.Asp307His) | COSMIC |
19 | g.18787608C>T | CA404888650 | COMP | c.1018G>A (p.Asp340Asn) c.859G>A (p.Asp287Asn) c.919G>A (p.Asp307Asn) | gnomAD v4 |
19 | g.18787609C>A | CA506053105 | COMP | c.1017G>T (p.Thr339=) c.858G>T (p.Thr286=) c.918G>T (p.Thr306=) | |
19 | g.18787609C= | CA2326526119 | COMP | c.1017G= (p.Thr339=) c.858G= (p.Thr286=) c.918G= (p.Thr306=) | |
19 | g.18787609C>G | CA506053106 | COMP | c.1017G>C (p.Thr339=) c.858G>C (p.Thr286=) c.918G>C (p.Thr306=) | gnomAD v4 |
19 | g.18787609C>T | CA506053107 | COMP | c.1017G>A (p.Thr339=) c.858G>A (p.Thr286=) c.918G>A (p.Thr306=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18787610G>A | CA9316559 | COMP | c.1016C>T (p.Thr339Met) c.857C>T (p.Thr286Met) c.917C>T (p.Thr306Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18787610G>C | CA404888654 | COMP | c.1016C>G (p.Thr339Arg) c.857C>G (p.Thr286Arg) c.917C>G (p.Thr306Arg) | |
19 | g.18787610G= | CA2326526121 | COMP | c.1016C= (p.Thr339=) c.857C= (p.Thr286=) c.917C= (p.Thr306=) | |
19 | g.18787610G>T | CA404888653 | COMP | c.1016C>A (p.Thr339Lys) c.857C>A (p.Thr286Lys) c.917C>A (p.Thr306Lys) | |
19 | g.18787611T>A | CA404888656 | COMP | c.1015A>T (p.Thr339Ser) c.856A>T (p.Thr286Ser) c.916A>T (p.Thr306Ser) | |
19 | g.18787611T>C | CA404888658 | COMP | c.1015A>G (p.Thr339Ala) c.856A>G (p.Thr286Ala) c.916A>G (p.Thr306Ala) | gnomAD v4 |
19 | g.18787611T>G | CA404888660 | COMP | c.1015A>C (p.Thr339Pro) c.856A>C (p.Thr286Pro) c.916A>C (p.Thr306Pro) | |
19 | g.18787611_18787626delinsTGTTGCGCTGGTCTGG | CA2326526124 | COMP | c.1000_1015delinsCCAGACCAGCGCAACA (p.Pro334=) c.841_856delinsCCAGACCAGCGCAACA (p.Pro281=) c.901_916delinsCCAGACCAGCGCAACA (p.Pro301=) | |
19 | g.18787612G>A | CA306256713 | COMP | c.1014C>T (p.Asn338=) c.855C>T (p.Asn285=) c.915C>T (p.Asn305=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.18787612G>C | CA404888676 | COMP | c.1014C>G (p.Asn338Lys) c.855C>G (p.Asn285Lys) c.915C>G (p.Asn305Lys) | |
19 | g.18787612G= | CA2326526130 | COMP | c.1014C= (p.Asn338=) c.855C= (p.Asn285=) c.915C= (p.Asn305=) | |
19 | g.18787612G>T | CA404888678 | COMP | c.1014C>A (p.Asn338Lys) c.855C>A (p.Asn285Lys) c.915C>A (p.Asn305Lys) | |
19 | g.18787615_18787629del | CA915952951 | COMP | c.1000_1014del (p.Pro334_Asn338del) c.841_855del (p.Pro281_Asn285del) c.901_915del (p.Pro301_Asn305del) | ClinVar dbSNP |
19 | g.18787613T>A | CA404888681 | COMP | c.1013A>T (p.Asn338Ile) c.854A>T (p.Asn285Ile) c.914A>T (p.Asn305Ile) | |
19 | g.18787613T>C | CA404888682 | COMP | c.1013A>G (p.Asn338Ser) c.854A>G (p.Asn285Ser) c.914A>G (p.Asn305Ser) | |
19 | g.18787613T>G | CA404888683 | COMP | c.1013A>C (p.Asn338Thr) c.854A>C (p.Asn285Thr) c.914A>C (p.Asn305Thr) | |
19 | g.18787614T>A | CA404888684 | COMP | c.1012A>T (p.Asn338Tyr) c.853A>T (p.Asn285Tyr) c.913A>T (p.Asn305Tyr) | |
19 | g.18787614T>C | CA404888685 | COMP | c.1012A>G (p.Asn338Asp) c.853A>G (p.Asn285Asp) c.913A>G (p.Asn305Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18787614T>G | CA404888686 | COMP | c.1012A>C (p.Asn338His) c.853A>C (p.Asn285His) c.913A>C (p.Asn305His) | |
19 | g.18787614T= | CA2326526133 | COMP | c.1012A= (p.Asn338=) c.853A= (p.Asn285=) c.913A= (p.Asn305=) | |
19 | g.18787615G>A | CA506053108 | COMP | c.1011C>T (p.Arg337=) c.852C>T (p.Arg284=) c.912C>T (p.Arg304=) | |
19 | g.18787615G>C | CA506053109 | COMP | c.1011C>G (p.Arg337=) c.852C>G (p.Arg284=) c.912C>G (p.Arg304=) | |
19 | g.18787615G>T | CA506053110 | COMP | c.1011C>A (p.Arg337=) c.852C>A (p.Arg284=) c.912C>A (p.Arg304=) | |
19 | g.18787616C>A | CA404888691 | COMP | c.1010G>T (p.Arg337Leu) c.851G>T (p.Arg284Leu) c.911G>T (p.Arg304Leu) | |
19 | g.18787616C= | CA2326526136 | COMP | c.1010G= (p.Arg337=) c.851G= (p.Arg284=) c.911G= (p.Arg304=) | |
19 | g.18787616C>G | CA404888697 | COMP | c.1010G>C (p.Arg337Pro) c.851G>C (p.Arg284Pro) c.911G>C (p.Arg304Pro) | |
19 | g.18787616C>T | CA404888689 | COMP | c.1010G>A (p.Arg337His) c.851G>A (p.Arg284His) c.911G>A (p.Arg304His) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.18787617G>A | CA404888701 | COMP | c.1009C>T (p.Arg337Cys) c.850C>T (p.Arg284Cys) c.910C>T (p.Arg304Cys) | gnomAD v4 COSMIC |
19 | g.18787617G>C | CA404888703 | COMP | c.1009C>G (p.Arg337Gly) c.850C>G (p.Arg284Gly) c.910C>G (p.Arg304Gly) | |
19 | g.18787617G= | CA2326526138 | COMP | c.1009C= (p.Arg337=) c.850C= (p.Arg284=) c.910C= (p.Arg304=) | |
19 | g.18787617G>T | CA404888704 | COMP | c.1009C>A (p.Arg337Ser) c.850C>A (p.Arg284Ser) c.910C>A (p.Arg304Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18787618C>A | CA404888707 | COMP | c.1008G>T (p.Gln336His) c.849G>T (p.Gln283His) c.909G>T (p.Gln303His) | |
19 | g.18787618C>G | CA404888710 | COMP | c.1008G>C (p.Gln336His) c.849G>C (p.Gln283His) c.909G>C (p.Gln303His) | |
19 | g.18787618C>T | CA506053111 | COMP | c.1008G>A (p.Gln336=) c.849G>A (p.Gln283=) c.909G>A (p.Gln303=) | COSMIC |
19 | g.18787619T>A | CA404888719 | COMP | c.1007A>T (p.Gln336Leu) c.848A>T (p.Gln283Leu) c.908A>T (p.Gln303Leu) | |
19 | g.18787619T>C | CA404888714 | COMP | c.1007A>G (p.Gln336Arg) c.848A>G (p.Gln283Arg) c.908A>G (p.Gln303Arg) | |
19 | g.18787619T>G | CA404888716 | COMP | c.1007A>C (p.Gln336Pro) c.848A>C (p.Gln283Pro) c.908A>C (p.Gln303Pro) | |
19 | g.18787620G>A | CA404888723 | COMP | c.1006C>T (p.Gln336Ter) c.847C>T (p.Gln283Ter) c.907C>T (p.Gln303Ter) | |
19 | g.18787620G>C | CA404888725 | COMP | c.1006C>G (p.Gln336Glu) c.847C>G (p.Gln283Glu) c.907C>G (p.Gln303Glu) | |
19 | g.18787620G>T | CA404888726 | COMP | c.1006C>A (p.Gln336Lys) c.847C>A (p.Gln283Lys) c.907C>A (p.Gln303Lys) | |
19 | g.18787621G>A | CA506053112 | COMP | c.1005C>T (p.Asp335=) c.846C>T (p.Asp282=) c.906C>T (p.Asp302=) | |
19 | g.18787621G>C | CA404888728 | COMP | c.1005C>G (p.Asp335Glu) c.846C>G (p.Asp282Glu) c.906C>G (p.Asp302Glu) | |
19 | g.18787621G>T | CA404888731 | COMP | c.1005C>A (p.Asp335Glu) c.846C>A (p.Asp282Glu) c.906C>A (p.Asp302Glu) | |
19 | g.18787622T>A | CA404888732 | COMP | c.1004A>T (p.Asp335Val) c.845A>T (p.Asp282Val) c.905A>T (p.Asp302Val) | |
19 | g.18787622T>C | CA404888736 | COMP | c.1004A>G (p.Asp335Gly) c.845A>G (p.Asp282Gly) c.905A>G (p.Asp302Gly) | |
19 | g.18787622T>G | CA404888734 | COMP | c.1004A>C (p.Asp335Ala) c.845A>C (p.Asp282Ala) c.905A>C (p.Asp302Ala) | gnomAD v4 |
19 | g.18787623C>A | CA404888741 | COMP | c.1003G>T (p.Asp335Tyr) c.844G>T (p.Asp282Tyr) c.904G>T (p.Asp302Tyr) | COSMIC |
19 | g.18787623C>G | CA404888745 | COMP | c.1003G>C (p.Asp335His) c.844G>C (p.Asp282His) c.904G>C (p.Asp302His) | |
19 | g.18787623C>T | CA404888743 | COMP | c.1003G>A (p.Asp335Asn) c.844G>A (p.Asp282Asn) c.904G>A (p.Asp302Asn) | |
19 | g.18787624T>A | CA506053115 | COMP | c.1002A>T (p.Pro334=) c.843A>T (p.Pro281=) c.903A>T (p.Pro301=) | |
19 | g.18787624T>C | CA506053113 | COMP | c.1002A>G (p.Pro334=) c.843A>G (p.Pro281=) c.903A>G (p.Pro301=) | dbSNP |
19 | g.18787624T>G | CA506053114 | COMP | c.1002A>C (p.Pro334=) c.843A>C (p.Pro281=) c.903A>C (p.Pro301=) | gnomAD v4 |
19 | g.18787624T= | CA2326526142 | COMP | c.1002A= (p.Pro334=) c.843A= (p.Pro281=) c.903A= (p.Pro301=) | |
19 | g.18787625G>A | CA404888748 | COMP | c.1001C>T (p.Pro334Leu) c.842C>T (p.Pro281Leu) c.902C>T (p.Pro301Leu) | |
19 | g.18787625G>C | CA404888763 | COMP | c.1001C>G (p.Pro334Arg) c.842C>G (p.Pro281Arg) c.902C>G (p.Pro301Arg) | |
19 | g.18787625G>T | CA404888759 | COMP | c.1001C>A (p.Pro334Gln) c.842C>A (p.Pro281Gln) c.902C>A (p.Pro301Gln) | |
19 | g.18787626G>A | CA404888766 | COMP | c.1000C>T (p.Pro334Ser) c.841C>T (p.Pro281Ser) c.901C>T (p.Pro301Ser) | |
19 | g.18787626G>C | CA404888770 | COMP | c.1000C>G (p.Pro334Ala) c.841C>G (p.Pro281Ala) c.901C>G (p.Pro301Ala) | |
19 | g.18787626G>T | CA404888767 | COMP | c.1000C>A (p.Pro334Thr) c.841C>A (p.Pro281Thr) c.901C>A (p.Pro301Thr) | gnomAD v4 |
19 | g.18787627G>A | CA506053116 | COMP | c.999C>T (p.Asn333=) c.840C>T (p.Asn280=) c.900C>T (p.Asn300=) | |
19 | g.18787627G>C | CA404888773 | COMP | c.999C>G (p.Asn333Lys) c.840C>G (p.Asn280Lys) c.900C>G (p.Asn300Lys) | |
19 | g.18787627G>T | CA404888774 | COMP | c.999C>A (p.Asn333Lys) c.840C>A (p.Asn280Lys) c.900C>A (p.Asn300Lys) | |
19 | g.18787628T>A | CA404888776 | COMP | c.998A>T (p.Asn333Ile) c.839A>T (p.Asn280Ile) c.899A>T (p.Asn300Ile) | |
19 | g.18787628T>C | CA404888778 | COMP | c.998A>G (p.Asn333Ser) c.839A>G (p.Asn280Ser) c.899A>G (p.Asn300Ser) | |
19 | g.18787628T>G | CA404888781 | COMP | c.998A>C (p.Asn333Thr) c.839A>C (p.Asn280Thr) c.899A>C (p.Asn300Thr) | |
19 | g.18787629T>A | CA404888782 | COMP | c.997A>T (p.Asn333Tyr) c.838A>T (p.Asn280Tyr) c.898A>T (p.Asn300Tyr) | |
19 | g.18787629T>C | CA404888783 | COMP | c.997A>G (p.Asn333Asp) c.838A>G (p.Asn280Asp) c.898A>G (p.Asn300Asp) | |
19 | g.18787629T>G | CA404888785 | COMP | c.997A>C (p.Asn333His) c.838A>C (p.Asn280His) c.898A>C (p.Asn300His) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18787629T= | CA2326526145 | COMP | c.997A= (p.Asn333=) c.838A= (p.Asn280=) c.898A= (p.Asn300=) | |
19 | g.18787630C>A | CA506053117 | COMP | c.996G>T (p.Arg332=) c.837G>T (p.Arg279=) c.897G>T (p.Arg299=) | |
19 | g.18787630C>G | CA506053118 | COMP | c.996G>C (p.Arg332=) c.837G>C (p.Arg279=) c.897G>C (p.Arg299=) | gnomAD v4 |
19 | g.18787630C>T | CA506053119 | COMP | c.996G>A (p.Arg332=) c.837G>A (p.Arg279=) c.897G>A (p.Arg299=) | |
19 | g.18787631C>A | CA404888791 | COMP | c.995G>T (p.Arg332Leu) c.836G>T (p.Arg279Leu) c.896G>T (p.Arg299Leu) | gnomAD v4 |
19 | g.18787631C= | CA2326526149 | COMP | c.995G= (p.Arg332=) c.836G= (p.Arg279=) c.896G= (p.Arg299=) | |
19 | g.18787631C>G | CA404888794 | COMP | c.995G>C (p.Arg332Pro) c.836G>C (p.Arg279Pro) c.896G>C (p.Arg299Pro) | |
19 | g.18787631C>T | CA306256718 | COMP | c.995G>A (p.Arg332Gln) c.836G>A (p.Arg279Gln) c.896G>A (p.Arg299Gln) | dbSNP gnomAD v4 |