Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.153869832G>A | CA415130530 | L1CAM | c.1094C>T (p.Thr365Ile) c.1079C>T (p.Thr360Ile) | |
X | g.153869832G>C | CA415130533 | L1CAM | c.1094C>G (p.Thr365Ser) c.1079C>G (p.Thr360Ser) | |
X | g.153869832G>T | CA415130541 | L1CAM | c.1094C>A (p.Thr365Asn) c.1079C>A (p.Thr360Asn) | |
X | g.153869833T>A | CA415130554 | L1CAM | c.1093A>T (p.Thr365Ser) c.1078A>T (p.Thr360Ser) | |
X | g.153869833T>C | CA415130549 | L1CAM | c.1093A>G (p.Thr365Ala) c.1078A>G (p.Thr360Ala) | |
X | g.153869833T>G | CA415130546 | L1CAM | c.1093A>C (p.Thr365Pro) c.1078A>C (p.Thr360Pro) | |
X | g.153869834G>A | CA10554437 | L1CAM | c.1092C>T (p.Val364=) c.1077C>T (p.Val359=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.153869834G>C | CA519343929 | L1CAM | c.1092C>G (p.Val364=) c.1077C>G (p.Val359=) | |
X | g.153869834G= | CA2466506934 | L1CAM | c.1092C= (p.Val364=) c.1077C= (p.Val359=) | |
X | g.153869834G>T | CA519343930 | L1CAM | c.1092C>A (p.Val364=) c.1077C>A (p.Val359=) | |
X | g.153869835A>C | CA415130561 | L1CAM | c.1091T>G (p.Val364Gly) c.1076T>G (p.Val359Gly) | |
X | g.153869835A>G | CA415130564 | L1CAM | c.1091T>C (p.Val364Ala) c.1076T>C (p.Val359Ala) | |
X | g.153869835A>T | CA415130567 | L1CAM | c.1091T>A (p.Val364Asp) c.1076T>A (p.Val359Asp) | |
X | g.153869836C>A | CA415130571 | L1CAM | c.1090G>T (p.Val364Phe) c.1075G>T (p.Val359Phe) | |
X | g.153869836C>G | CA415130573 | L1CAM | c.1090G>C (p.Val364Leu) c.1075G>C (p.Val359Leu) | |
X | g.153869836C>T | CA415130577 | L1CAM | c.1090G>A (p.Val364Ile) c.1075G>A (p.Val359Ile) | gnomAD v4 |
X | g.153869837C>A | CA415130580 | L1CAM | c.1089G>T (p.Glu363Asp) c.1074G>T (p.Glu358Asp) | |
X | g.153869837C>G | CA415130583 | L1CAM | c.1089G>C (p.Glu363Asp) c.1074G>C (p.Glu358Asp) | |
X | g.153869837C>T | CA519343931 | L1CAM | c.1089G>A (p.Glu363=) c.1074G>A (p.Glu358=) | |
X | g.153869839_153869840del | CA2579732966 | L1CAM | c.1088_1089del (p.Glu363GlyfsTer?) c.1073_1074del (p.Glu358GlyfsTer?) | |
X | g.153869838T>A | CA415130585 | L1CAM | c.1088A>T (p.Glu363Val) c.1073A>T (p.Glu358Val) | |
X | g.153869838T>C | CA337263275 | L1CAM | c.1088A>G (p.Glu363Gly) c.1073A>G (p.Glu358Gly) | dbSNP gnomAD v4 |
X | g.153869838T>G | CA415130589 | L1CAM | c.1088A>C (p.Glu363Ala) c.1073A>C (p.Glu358Ala) | |
X | g.153869838T= | CA2466506935 | L1CAM | c.1088A= (p.Glu363=) c.1073A= (p.Glu358=) | |
X | g.153869839C>A | CA415130594 | L1CAM | c.1087G>T (p.Glu363Ter) c.1072G>T (p.Glu358Ter) | |
X | g.153869839C>G | CA415130601 | L1CAM | c.1087G>C (p.Glu363Gln) c.1072G>C (p.Glu358Gln) | |
X | g.153869839C>T | CA415130600 | L1CAM | c.1087G>A (p.Glu363Lys) c.1072G>A (p.Glu358Lys) | |
X | g.153869840T>A | CA519343932 | L1CAM | c.1086A>T (p.Pro362=) c.1071A>T (p.Pro357=) | |
X | g.153869840T>C | CA519343933 | L1CAM | c.1086A>G (p.Pro362=) c.1071A>G (p.Pro357=) | |
X | g.153869840T>G | CA519343934 | L1CAM | c.1086A>C (p.Pro362=) c.1071A>C (p.Pro357=) | |
X | g.153869841G>A | CA415130602 | L1CAM | c.1085C>T (p.Pro362Leu) c.1070C>T (p.Pro357Leu) | |
X | g.153869841G>C | CA415130603 | L1CAM | c.1085C>G (p.Pro362Arg) c.1070C>G (p.Pro357Arg) | |
X | g.153869841G>T | CA415130604 | L1CAM | c.1085C>A (p.Pro362Gln) c.1070C>A (p.Pro357Gln) | |
X | g.153869842G>A | CA415130605 | L1CAM | c.1084C>T (p.Pro362Ser) c.1069C>T (p.Pro357Ser) | |
X | g.153869842G>C | CA415130606 | L1CAM | c.1084C>G (p.Pro362Ala) c.1069C>G (p.Pro357Ala) | |
X | g.153869842G>T | CA415130608 | L1CAM | c.1084C>A (p.Pro362Thr) c.1069C>A (p.Pro357Thr) | gnomAD v4 |
X | g.153869843T>A | CA415130611 | L1CAM | c.1083A>T (p.Gln361His) c.1068A>T (p.Gln356His) | ClinVar |
X | g.153869843T>C | CA519343935 | L1CAM | c.1083A>G (p.Gln361=) c.1068A>G (p.Gln356=) | |
X | g.153869843T>G | CA415130615 | L1CAM | c.1083A>C (p.Gln361His) c.1068A>C (p.Gln356His) | |
X | g.153869844T>A | CA415130618 | L1CAM | c.1082A>T (p.Gln361Leu) c.1067A>T (p.Gln356Leu) | |
X | g.153869844T>C | CA415130620 | L1CAM | c.1082A>G (p.Gln361Arg) c.1067A>G (p.Gln356Arg) | |
X | g.153869844T>G | CA415130622 | L1CAM | c.1082A>C (p.Gln361Pro) c.1067A>C (p.Gln356Pro) | |
X | g.153869845G>A | CA415130630 | L1CAM | c.1081C>T (p.Gln361Ter) c.1066C>T (p.Gln356Ter) | |
X | g.153869845G>C | CA415130624 | L1CAM | c.1081C>G (p.Gln361Glu) c.1066C>G (p.Gln356Glu) | |
X | g.153869845G>T | CA415130626 | L1CAM | c.1081C>A (p.Gln361Lys) c.1066C>A (p.Gln356Lys) | |
X | g.153869846G>A | CA519343938 | L1CAM | c.1080C>T (p.Pro360=) c.1065C>T (p.Pro355=) | |
X | g.153869846G>C | CA519343936 | L1CAM | c.1080C>G (p.Pro360=) c.1065C>G (p.Pro355=) | |
X | g.153869846G>T | CA519343937 | L1CAM | c.1080C>A (p.Pro360=) c.1065C>A (p.Pro355=) | |
X | g.153869847G>A | CA415130632 | L1CAM | c.1079C>T (p.Pro360Leu) c.1064C>T (p.Pro355Leu) | gnomAD v4 |
X | g.153869847G>C | CA415130635 | L1CAM | c.1079C>G (p.Pro360Arg) c.1064C>G (p.Pro355Arg) | |
X | g.153869847G>T | CA415130637 | L1CAM | c.1079C>A (p.Pro360His) c.1064C>A (p.Pro355His) | |
X | g.153869848G>A | CA415130639 | L1CAM | c.1078C>T (p.Pro360Ser) c.1063C>T (p.Pro355Ser) | gnomAD v4 |
X | g.153869848G>C | CA415130640 | L1CAM | c.1078C>G (p.Pro360Ala) c.1063C>G (p.Pro355Ala) | |
X | g.153869848G>T | CA415130643 | L1CAM | c.1078C>A (p.Pro360Thr) c.1063C>A (p.Pro355Thr) | |
X | g.153869849C>A | CA415130649 | L1CAM | c.1077G>T (p.Arg359Ser) c.1062G>T (p.Arg354Ser) | |
X | g.153869849C>G | CA415130651 | L1CAM | c.1077G>C (p.Arg359Ser) c.1062G>C (p.Arg354Ser) | |
X | g.153869849C>T | CA519343939 | L1CAM | c.1077G>A (p.Arg359=) c.1062G>A (p.Arg354=) | gnomAD v4 |
X | g.153869850C>A | CA415130653 | L1CAM | c.1076G>T (p.Arg359Met) c.1061G>T (p.Arg354Met) | |
X | g.153869850C>G | CA415130655 | L1CAM | c.1076G>C (p.Arg359Thr) c.1061G>C (p.Arg354Thr) | |
X | g.153869850C>T | CA415130659 | L1CAM | c.1076G>A (p.Arg359Lys) c.1061G>A (p.Arg354Lys) | |
X | g.153869852_153869861del | CA2830782868 | L1CAM | c.1067_1076del (p.Val356GlyfsTer?) c.1052_1061del (p.Val351GlyfsTer?) | |
X | g.153869851T>A | CA415130663 | L1CAM | c.1075A>T (p.Arg359Trp) c.1060A>T (p.Arg354Trp) | COSMIC |
X | g.153869851T>C | CA415130665 | L1CAM | c.1075A>G (p.Arg359Gly) c.1060A>G (p.Arg354Gly) | gnomAD v4 |
X | g.153869851T>G | CA519343940 | L1CAM | c.1075A>C (p.Arg359=) c.1060A>C (p.Arg354=) | |
X | g.153869851dup | CA2842767244 | L1CAM | c.1075dup (p.Arg359LysfsTer?) c.1060dup (p.Arg354LysfsTer?) | |
X | g.153869852G>A | CA519343941 | L1CAM | c.1074C>T (p.Gly358=) c.1059C>T (p.Gly353=) | |
X | g.153869852G>C | CA519343942 | L1CAM | c.1074C>G (p.Gly358=) c.1059C>G (p.Gly353=) | |
X | g.153869852G>T | CA519343943 | L1CAM | c.1074C>A (p.Gly358=) c.1059C>A (p.Gly353=) | ClinVar |
X | g.153869853C>A | CA415130669 | L1CAM | c.1073G>T (p.Gly358Val) c.1058G>T (p.Gly353Val) | |
X | g.153869853C>G | CA415130675 | L1CAM | c.1073G>C (p.Gly358Ala) c.1058G>C (p.Gly353Ala) | |
X | g.153869853C>T | CA415130672 | L1CAM | c.1073G>A (p.Gly358Asp) c.1058G>A (p.Gly353Asp) | |
X | g.153869855dup | CA2842767246 | L1CAM | c.1073dup (p.Arg359GlnfsTer?) c.1058dup (p.Arg354GlnfsTer?) | |
X | g.153869855del | CA2579732967 | L1CAM | c.1073del (p.Gly358AlafsTer?) c.1058del (p.Gly353AlafsTer?) | |
X | g.153869854C>A | CA415130682 | L1CAM | c.1072G>T (p.Gly358Cys) c.1057G>T (p.Gly353Cys) | |
X | g.153869854C>G | CA415130690 | L1CAM | c.1072G>C (p.Gly358Arg) c.1057G>C (p.Gly353Arg) | |
X | g.153869854C>T | CA415130687 | L1CAM | c.1072G>A (p.Gly358Ser) c.1057G>A (p.Gly353Ser) | |
X | g.153869855C>A | CA415130691 | L1CAM | c.1071G>T (p.Gln357His) c.1056G>T (p.Gln352His) | |
X | g.153869855C= | CA2466506936 | L1CAM | c.1071G= (p.Gln357=) c.1056G= (p.Gln352=) | |
X | g.153869855C>G | CA415130693 | L1CAM | c.1071G>C (p.Gln357His) c.1056G>C (p.Gln352His) | |
X | g.153869855C>T | CA519343944 | L1CAM | c.1071G>A (p.Gln357=) c.1056G>A (p.Gln352=) | dbSNP |
X | g.153869856T>A | CA415130696 | L1CAM | c.1070A>T (p.Gln357Leu) c.1055A>T (p.Gln352Leu) | |
X | g.153869856T>C | CA415130698 | L1CAM | c.1070A>G (p.Gln357Arg) c.1055A>G (p.Gln352Arg) | |
X | g.153869856T>G | CA415130699 | L1CAM | c.1070A>C (p.Gln357Pro) c.1055A>C (p.Gln352Pro) | |
X | g.153869857G>A | CA415130704 | L1CAM | c.1069C>T (p.Gln357Ter) c.1054C>T (p.Gln352Ter) | |
X | g.153869857G>C | CA415130707 | L1CAM | c.1069C>G (p.Gln357Glu) c.1054C>G (p.Gln352Glu) | |
X | g.153869857G>T | CA415130715 | L1CAM | c.1069C>A (p.Gln357Lys) c.1054C>A (p.Gln352Lys) | |
X | g.153869858G>A | CA519343945 | L1CAM | c.1068C>T (p.Val356=) c.1053C>T (p.Val351=) | |
X | g.153869858G>C | CA519343946 | L1CAM | c.1068C>G (p.Val356=) c.1053C>G (p.Val351=) | |
X | g.153869858G>T | CA519343947 | L1CAM | c.1068C>A (p.Val356=) c.1053C>A (p.Val351=) | |
X | g.153869859A>C | CA415130725 | L1CAM | c.1067T>G (p.Val356Gly) c.1052T>G (p.Val351Gly) | |
X | g.153869859A>G | CA415130726 | L1CAM | c.1067T>C (p.Val356Ala) c.1052T>C (p.Val351Ala) | gnomAD v4 |
X | g.153869859A>T | CA415130729 | L1CAM | c.1067T>A (p.Val356Asp) c.1052T>A (p.Val351Asp) | |
X | g.153869860C>A | CA415130740 | L1CAM | c.1066G>T (p.Val356Phe) c.1051G>T (p.Val351Phe) | ClinVar dbSNP |
X | g.153869860C= | CA2466506937 | L1CAM | c.1066G= (p.Val356=) c.1051G= (p.Val351=) | |
X | g.153869860C>G | CA415130737 | L1CAM | c.1066G>C (p.Val356Leu) c.1051G>C (p.Val351Leu) | |
X | g.153869860C>T | CA415130734 | L1CAM | c.1066G>A (p.Val356Ile) c.1051G>A (p.Val351Ile) | |
X | g.153869861T>A | CA415130743 | L1CAM | c.1065A>T (p.Gln355His) c.1050A>T (p.Gln350His) | |
X | g.153869861T>C | CA519343948 | L1CAM | c.1065A>G (p.Gln355=) c.1050A>G (p.Gln350=) | |
X | g.153869861T>G | CA337263276 | L1CAM | c.1065A>C (p.Gln355His) c.1050A>C (p.Gln350His) | dbSNP |
X | g.153869861T= | CA2466506938 | L1CAM | c.1065A= (p.Gln355=) c.1050A= (p.Gln350=) | |
X | g.153869861_153869862insCACACAGTTACCCATG | CA10554438 | L1CAM | c.1064_1065insCATGGGTAACTGTGTG (p.Gln355HisfsTer?) c.1049_1050insCATGGGTAACTGTGTG (p.Gln350HisfsTer?) | dbSNP ExAC gnomAD v2 |
X | g.153869862T>A | CA415130756 | L1CAM | c.1064A>T (p.Gln355Leu) c.1049A>T (p.Gln350Leu) | |
X | g.153869862T>C | CA10554439 | L1CAM | c.1064A>G (p.Gln355Arg) c.1049A>G (p.Gln350Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153869862T>G | CA415130764 | L1CAM | c.1064A>C (p.Gln355Pro) c.1049A>C (p.Gln350Pro) | |
X | g.153869862T= | CA2466506939 | L1CAM | c.1064A= (p.Gln355=) c.1049A= (p.Gln350=) | |
X | g.153869863G>A | CA415130767 | L1CAM | c.1063C>T (p.Gln355Ter) c.1048C>T (p.Gln350Ter) | COSMIC |
X | g.153869863G>C | CA415130769 | L1CAM | c.1063C>G (p.Gln355Glu) c.1048C>G (p.Gln350Glu) | |
X | g.153869863G>T | CA415130771 | L1CAM | c.1063C>A (p.Gln355Lys) c.1048C>A (p.Gln350Lys) | gnomAD v4 |
X | g.153869864G>A | CA519343949 | L1CAM | c.1062C>T (p.Cys354=) c.1047C>T (p.Cys349=) | |
X | g.153869864G>C | CA415130776 | L1CAM | c.1062C>G (p.Cys354Trp) c.1047C>G (p.Cys349Trp) | |
X | g.153869864G>T | CA415130779 | L1CAM | c.1062C>A (p.Cys354Ter) c.1047C>A (p.Cys349Ter) | |
X | g.153869865C>A | CA415130782 | L1CAM | c.1061G>T (p.Cys354Phe) c.1046G>T (p.Cys349Phe) | |
X | g.153869865C>G | CA415130790 | L1CAM | c.1061G>C (p.Cys354Ser) c.1046G>C (p.Cys349Ser) | |
X | g.153869865C>T | CA415130785 | L1CAM | c.1061G>A (p.Cys354Tyr) c.1046G>A (p.Cys349Tyr) | |
X | g.153869866A>C | CA415130792 | L1CAM | c.1060T>G (p.Cys354Gly) c.1045T>G (p.Cys349Gly) | |
X | g.153869866A>G | CA415130794 | L1CAM | c.1060T>C (p.Cys354Arg) c.1045T>C (p.Cys349Arg) | |
X | g.153869866A>T | CA415130797 | L1CAM | c.1060T>A (p.Cys354Ser) c.1045T>A (p.Cys349Ser) | |
X | g.153869867G>A | CA519343950 | L1CAM | c.1059C>T (p.Asp353=) c.1044C>T (p.Asp348=) | gnomAD v4 |
X | g.153869867G>C | CA415130801 | L1CAM | c.1059C>G (p.Asp353Glu) c.1044C>G (p.Asp348Glu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.153869867G= | CA2466506940 | L1CAM | c.1059C= (p.Asp353=) c.1044C= (p.Asp348=) | |
X | g.153869867G>T | CA415130804 | L1CAM | c.1059C>A (p.Asp353Glu) c.1044C>A (p.Asp348Glu) | |
X | g.153869868T>A | CA415130807 | L1CAM | c.1058A>T (p.Asp353Val) c.1043A>T (p.Asp348Val) | |
X | g.153869868T>C | CA415130813 | L1CAM | c.1058A>G (p.Asp353Gly) c.1043A>G (p.Asp348Gly) | |
X | g.153869868T>G | CA415130816 | L1CAM | c.1058A>C (p.Asp353Ala) c.1043A>C (p.Asp348Ala) | |
X | g.153869869C>A | CA415130818 | L1CAM | c.1057G>T (p.Asp353Tyr) c.1042G>T (p.Asp348Tyr) | |
X | g.153869869C>G | CA415130820 | L1CAM | c.1057G>C (p.Asp353His) c.1042G>C (p.Asp348His) | |
X | g.153869869C>T | CA415130824 | L1CAM | c.1057G>A (p.Asp353Asn) c.1042G>A (p.Asp348Asn) | ClinVar COSMIC |
X | g.153869870C>A | CA519343951 | L1CAM | c.1056G>T (p.Leu352=) c.1041G>T (p.Leu347=) | |
X | g.153869870C>G | CA519343952 | L1CAM | c.1056G>C (p.Leu352=) c.1041G>C (p.Leu347=) | |
X | g.153869870C>T | CA519343953 | L1CAM | c.1056G>A (p.Leu352=) c.1041G>A (p.Leu347=) | |
X | g.153869871A>C | CA415130825 | L1CAM | c.1055T>G (p.Leu352Arg) c.1040T>G (p.Leu347Arg) | |
X | g.153869871A>G | CA415130827 | L1CAM | c.1055T>C (p.Leu352Pro) c.1040T>C (p.Leu347Pro) | |
X | g.153869871A>T | CA415130826 | L1CAM | c.1055T>A (p.Leu352Gln) c.1040T>A (p.Leu347Gln) | |
X | g.153869872G>A | CA519343954 | L1CAM | c.1054C>T (p.Leu352=) c.1039C>T (p.Leu347=) | dbSNP |
X | g.153869872G>C | CA415130829 | L1CAM | c.1054C>G (p.Leu352Val) c.1039C>G (p.Leu347Val) | |
X | g.153869872G= | CA2466506941 | L1CAM | c.1054C= (p.Leu352=) c.1039C= (p.Leu347=) | |
X | g.153869872G>T | CA415130832 | L1CAM | c.1054C>A (p.Leu352Met) c.1039C>A (p.Leu347Met) | |
X | g.153869873G>A | CA519343955 | L1CAM | c.1053C>T (p.Arg351=) c.1038C>T (p.Arg346=) | gnomAD v4 |
X | g.153869873G>C | CA519343957 | L1CAM | c.1053C>G (p.Arg351=) c.1038C>G (p.Arg346=) | |
X | g.153869873G>T | CA519343956 | L1CAM | c.1053C>A (p.Arg351=) c.1038C>A (p.Arg346=) | |
X | g.153869874C>A | CA415130833 | L1CAM | c.1052G>T (p.Arg351Leu) c.1037G>T (p.Arg346Leu) | |
X | g.153869874C= | CA2466506942 | L1CAM | c.1052G= (p.Arg351=) c.1037G= (p.Arg346=) | |
X | g.153869874C>G | CA415130834 | L1CAM | c.1052G>C (p.Arg351Pro) c.1037G>C (p.Arg346Pro) | |
X | g.153869874C>T | CA10554440 | L1CAM | c.1052G>A (p.Arg351His) c.1037G>A (p.Arg346His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.153869875G>A | CA415130835 | L1CAM | c.1051C>T (p.Arg351Cys) c.1036C>T (p.Arg346Cys) | gnomAD v4 |
X | g.153869875G>C | CA415130837 | L1CAM | c.1051C>G (p.Arg351Gly) c.1036C>G (p.Arg346Gly) | |
X | g.153869875G>T | CA415130840 | L1CAM | c.1051C>A (p.Arg351Ser) c.1036C>A (p.Arg346Ser) | gnomAD v4 |
X | g.153869876G>A | CA10554441 | L1CAM | c.1050C>T (p.Ala350=) c.1035C>T (p.Ala345=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153869876G>C | CA519343958 | L1CAM | c.1050C>G (p.Ala350=) c.1035C>G (p.Ala345=) | |
X | g.153869876G= | CA2466506943 | L1CAM | c.1050C= (p.Ala350=) c.1035C= (p.Ala345=) | |
X | g.153869876G>T | CA519343959 | L1CAM | c.1050C>A (p.Ala350=) c.1035C>A (p.Ala345=) | |
X | g.153869877G>A | CA415130848 | L1CAM | c.1049C>T (p.Ala350Val) c.1034C>T (p.Ala345Val) | |
X | g.153869877G>C | CA415130854 | L1CAM | c.1049C>G (p.Ala350Gly) c.1034C>G (p.Ala345Gly) | |
X | g.153869877G>T | CA415130845 | L1CAM | c.1049C>A (p.Ala350Asp) c.1034C>A (p.Ala345Asp) | |
X | g.153869878C>A | CA415130874 | L1CAM | c.1048G>T (p.Ala350Ser) c.1033G>T (p.Ala345Ser) | |
X | g.153869878C>G | CA415130856 | L1CAM | c.1048G>C (p.Ala350Pro) c.1033G>C (p.Ala345Pro) | |
X | g.153869878C>T | CA415130858 | L1CAM | c.1048G>A (p.Ala350Thr) c.1033G>A (p.Ala345Thr) | |
X | g.153869879A>C | CA519343960 | L1CAM | c.1047T>G (p.Thr349=) c.1032T>G (p.Thr344=) | |
X | g.153869879A>G | CA519343961 | L1CAM | c.1047T>C (p.Thr349=) c.1032T>C (p.Thr344=) | |
X | g.153869879A>T | CA519343962 | L1CAM | c.1047T>A (p.Thr349=) c.1032T>A (p.Thr344=) | |
X | g.153869880G>A | CA415130878 | L1CAM | c.1046C>T (p.Thr349Ile) c.1031C>T (p.Thr344Ile) | gnomAD v4 |
X | g.153869880G>C | CA415130881 | L1CAM | c.1046C>G (p.Thr349Ser) c.1031C>G (p.Thr344Ser) | |
X | g.153869880G>T | CA415130882 | L1CAM | c.1046C>A (p.Thr349Asn) c.1031C>A (p.Thr344Asn) | |
X | g.153869881T>A | CA415130885 | L1CAM | c.1045A>T (p.Thr349Ser) c.1030A>T (p.Thr344Ser) | |
X | g.153869881T>C | CA415130889 | L1CAM | c.1045A>G (p.Thr349Ala) c.1030A>G (p.Thr344Ala) | |
X | g.153869881T>G | CA415130892 | L1CAM | c.1045A>C (p.Thr349Pro) c.1030A>C (p.Thr344Pro) | |
X | g.153869882C>A | CA415130897 | L1CAM | c.1044G>T (p.Glu348Asp) c.1029G>T (p.Glu343Asp) | |
X | g.153869882C>G | CA415130907 | L1CAM | c.1044G>C (p.Glu348Asp) c.1029G>C (p.Glu343Asp) | |
X | g.153869882C>T | CA519343963 | L1CAM | c.1044G>A (p.Glu348=) c.1029G>A (p.Glu343=) | |
X | g.153869883T>A | CA415130912 | L1CAM | c.1043A>T (p.Glu348Val) c.1028A>T (p.Glu343Val) | |
X | g.153869883T>C | CA415130915 | L1CAM | c.1043A>G (p.Glu348Gly) c.1028A>G (p.Glu343Gly) | |
X | g.153869883T>G | CA415130922 | L1CAM | c.1043A>C (p.Glu348Ala) c.1028A>C (p.Glu343Ala) | |
X | g.153869884C>A | CA415130927 | L1CAM | c.1042G>T (p.Glu348Ter) c.1027G>T (p.Glu343Ter) | |
X | g.153869884C>G | CA415130933 | L1CAM | c.1042G>C (p.Glu348Gln) c.1027G>C (p.Glu343Gln) | |
X | g.153869884C>T | CA415130930 | L1CAM | c.1042G>A (p.Glu348Lys) c.1027G>A (p.Glu343Lys) | |
X | g.153869885T>A | CA519343964 | L1CAM | c.1041A>T (p.Gly347=) c.1026A>T (p.Gly342=) | |
X | g.153869885T>C | CA519343965 | L1CAM | c.1041A>G (p.Gly347=) c.1026A>G (p.Gly342=) | |
X | g.153869885T>G | CA519343966 | L1CAM | c.1041A>C (p.Gly347=) c.1026A>C (p.Gly342=) | |
X | g.153869886C>A | CA415130937 | L1CAM | c.1040G>T (p.Gly347Val) c.1025G>T (p.Gly342Val) | |
X | g.153869886C= | CA2466506944 | L1CAM | c.1040G= (p.Gly347=) c.1025G= (p.Gly342=) | |
X | g.153869886C>G | CA415130942 | L1CAM | c.1040G>C (p.Gly347Ala) c.1025G>C (p.Gly342Ala) | |
X | g.153869886C>T | CA415130944 | L1CAM | c.1040G>A (p.Gly347Glu) c.1025G>A (p.Gly342Glu) | ClinVar dbSNP |
X | g.153869887C>A | CA415130945 | L1CAM | c.1039G>T (p.Gly347Ter) c.1024G>T (p.Gly342Ter) | |
X | g.153869887C>G | CA415130946 | L1CAM | c.1039G>C (p.Gly347Arg) c.1024G>C (p.Gly342Arg) | |
X | g.153869887C>T | CA415130947 | L1CAM | c.1039G>A (p.Gly347Arg) c.1024G>A (p.Gly342Arg) | gnomAD v4 |
X | g.153869888T>A | CA519343967 | L1CAM | c.1038A>T (p.Pro346=) c.1023A>T (p.Pro341=) | |
X | g.153869888T>C | CA519343968 | L1CAM | c.1038A>G (p.Pro346=) c.1023A>G (p.Pro341=) | |
X | g.153869888T>G | CA519343969 | L1CAM | c.1038A>C (p.Pro346=) c.1023A>C (p.Pro341=) | |
X | g.153869889G>A | CA415130950 | L1CAM | c.1037C>T (p.Pro346Leu) c.1022C>T (p.Pro341Leu) | dbSNP gnomAD v2 |
X | g.153869889G>C | CA415130952 | L1CAM | c.1037C>G (p.Pro346Arg) c.1022C>G (p.Pro341Arg) | |
X | g.153869889G= | CA2466506945 | L1CAM | c.1037C= (p.Pro346=) c.1022C= (p.Pro341=) | |
X | g.153869889G>T | CA415130956 | L1CAM | c.1037C>A (p.Pro346Gln) c.1022C>A (p.Pro341Gln) | dbSNP gnomAD v3 gnomAD v4 |
X | g.153869890G>A | CA415130963 | L1CAM | c.1036C>T (p.Pro346Ser) c.1021C>T (p.Pro341Ser) | |
X | g.153869890G>C | CA415130960 | L1CAM | c.1036C>G (p.Pro346Ala) c.1021C>G (p.Pro341Ala) | |
X | g.153869890G>T | CA415130957 | L1CAM | c.1036C>A (p.Pro346Thr) c.1021C>A (p.Pro341Thr) | |
X | g.153869891C>A | CA519343970 | L1CAM | c.1035G>T (p.Gly345=) c.1020G>T (p.Gly340=) | |
X | g.153869891C>G | CA519343971 | L1CAM | c.1035G>C (p.Gly345=) c.1020G>C (p.Gly340=) | gnomAD v4 |
X | g.153869891C>T | CA519343972 | L1CAM | c.1035G>A (p.Gly345=) c.1020G>A (p.Gly340=) | |
X | g.153869892C>A | CA415130965 | L1CAM | c.1034G>T (p.Gly345Val) c.1019G>T (p.Gly340Val) | |
X | g.153869892C>G | CA415130968 | L1CAM | c.1034G>C (p.Gly345Ala) c.1019G>C (p.Gly340Ala) | |
X | g.153869892C>T | CA415130983 | L1CAM | c.1034G>A (p.Gly345Glu) c.1019G>A (p.Gly340Glu) | |
X | g.153869893C>A | CA415130986 | L1CAM | c.1033G>T (p.Gly345Trp) c.1018G>T (p.Gly340Trp) | |
X | g.153869893C= | CA2466506946 | L1CAM | c.1033G= (p.Gly345=) c.1018G= (p.Gly340=) | |
X | g.153869893C>G | CA415130988 | L1CAM | c.1033G>C (p.Gly345Arg) c.1018G>C (p.Gly340Arg) | |
X | g.153869893C>T | CA415130990 | L1CAM | c.1033G>A (p.Gly345Arg) c.1018G>A (p.Gly340Arg) | |
X | g.153869894A>C | CA415130994 | L1CAM | c.1032T>G (p.Tyr344Ter) c.1017T>G (p.Tyr339Ter) | |
X | g.153869894A>G | CA519343973 | L1CAM | c.1032T>C (p.Tyr344=) c.1017T>C (p.Tyr339=) | |
X | g.153869894A>T | CA415130997 | L1CAM | c.1032T>A (p.Tyr344Ter) c.1017T>A (p.Tyr339Ter) | |
X | g.153869894_153869898dup | CA16621235 | L1CAM | c.1028_1032dup (p.Gly345TyrfsTer?) c.1013_1017dup (p.Gly340TyrfsTer?) | ClinVar dbSNP |
X | g.153869895T>A | CA415130999 | L1CAM | c.1031A>T (p.Tyr344Phe) c.1016A>T (p.Tyr339Phe) | |
X | g.153869895T>C | CA415131002 | L1CAM | c.1031A>G (p.Tyr344Cys) c.1016A>G (p.Tyr339Cys) | |
X | g.153869895T>G | CA415131006 | L1CAM | c.1031A>C (p.Tyr344Ser) c.1016A>C (p.Tyr339Ser) | |
X | g.153869896A= | CA2466506947 | L1CAM | c.1030T= (p.Tyr344=) c.1015T= (p.Tyr339=) | |
X | g.153869896A>C | CA415131023 | L1CAM | c.1030T>G (p.Tyr344Asp) c.1015T>G (p.Tyr339Asp) | |
X | g.153869896A>G | CA415131021 | L1CAM | c.1030T>C (p.Tyr344His) c.1015T>C (p.Tyr339His) | dbSNP |
X | g.153869896A>T | CA415131020 | L1CAM | c.1030T>A (p.Tyr344Asn) c.1015T>A (p.Tyr339Asn) | |
X | g.153869897T>A | CA519343974 | L1CAM | c.1029A>T (p.Leu343=) c.1014A>T (p.Leu338=) | |
X | g.153869897T>C | CA519343975 | L1CAM | c.1029A>G (p.Leu343=) c.1014A>G (p.Leu338=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153869897T>G | CA10554442 | L1CAM | c.1029A>C (p.Leu343=) c.1014A>C (p.Leu338=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.153869897T= | CA2466506948 | L1CAM | c.1029A= (p.Leu343=) c.1014A= (p.Leu338=) | |
X | g.153869898A>C | CA415131025 | L1CAM | c.1028T>G (p.Leu343Arg) c.1013T>G (p.Leu338Arg) | |
X | g.153869898A>G | CA415131026 | L1CAM | c.1028T>C (p.Leu343Pro) c.1013T>C (p.Leu338Pro) | |
X | g.153869898A>T | CA415131027 | L1CAM | c.1028T>A (p.Leu343Gln) c.1013T>A (p.Leu338Gln) | |
X | g.153869899G>A | CA519343976 | L1CAM | c.1027C>T (p.Leu343=) c.1012C>T (p.Leu338=) | gnomAD v4 |
X | g.153869899G>C | CA415131028 | L1CAM | c.1027C>G (p.Leu343Val) c.1012C>G (p.Leu338Val) | gnomAD v4 |
X | g.153869899G>T | CA415131029 | L1CAM | c.1027C>A (p.Leu343Ile) c.1012C>A (p.Leu338Ile) | |
X | g.153869900A= | CA2466506949 | L1CAM | c.1026T= (p.His342=) c.1011T= (p.His337=) | |
X | g.153869900A>C | CA415131033 | L1CAM | c.1026T>G (p.His342Gln) c.1011T>G (p.His337Gln) | |
X | g.153869900A>G | CA10554443 | L1CAM | c.1026T>C (p.His342=) c.1011T>C (p.His337=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153869900A>T | CA415131039 | L1CAM | c.1026T>A (p.His342Gln) c.1011T>A (p.His337Gln) | |
X | g.153869901T>A | CA415131042 | L1CAM | c.1025A>T (p.His342Leu) c.1010A>T (p.His337Leu) | |
X | g.153869901T>C | CA415131044 | L1CAM | c.1025A>G (p.His342Arg) c.1010A>G (p.His337Arg) | |
X | g.153869901T>G | CA415131045 | L1CAM | c.1025A>C (p.His342Pro) c.1010A>C (p.His337Pro) | gnomAD v4 |
X | g.153869902G>A | CA415131053 | L1CAM | c.1024C>T (p.His342Tyr) c.1009C>T (p.His337Tyr) | dbSNP gnomAD v2 gnomAD v4 |
X | g.153869902G>C | CA415131051 | L1CAM | c.1024C>G (p.His342Asp) c.1009C>G (p.His337Asp) | |
X | g.153869902G= | CA2466506950 | L1CAM | c.1024C= (p.His342=) c.1009C= (p.His337=) | |
X | g.153869902G>T | CA415131049 | L1CAM | c.1024C>A (p.His342Asn) c.1009C>A (p.His337Asn) | |
X | g.153869903G>A | CA519343977 | L1CAM | c.1023C>T (p.Ser341=) c.1008C>T (p.Ser336=) | |
X | g.153869903G>C | CA415131059 | L1CAM | c.1023C>G (p.Ser341Arg) c.1008C>G (p.Ser336Arg) | dbSNP |
X | g.153869903G= | CA2466506951 | L1CAM | c.1023C= (p.Ser341=) c.1008C= (p.Ser336=) | |
X | g.153869903G>T | CA415131056 | L1CAM | c.1023C>A (p.Ser341Arg) c.1008C>A (p.Ser336Arg) | |
X | g.153869904C>A | CA415131075 | L1CAM | c.1022G>T (p.Ser341Ile) c.1007G>T (p.Ser336Ile) | |
X | g.153869904C>G | CA415131062 | L1CAM | c.1022G>C (p.Ser341Thr) c.1007G>C (p.Ser336Thr) | |
X | g.153869904C>T | CA415131081 | L1CAM | c.1022G>A (p.Ser341Asn) c.1007G>A (p.Ser336Asn) | |
X | g.153869905T>A | CA415131084 | L1CAM | c.1021A>T (p.Ser341Cys) c.1006A>T (p.Ser336Cys) | |
X | g.153869905T>C | CA415131086 | L1CAM | c.1021A>G (p.Ser341Gly) c.1006A>G (p.Ser336Gly) | |
X | g.153869905T>G | CA220724 | L1CAM | c.1021A>C (p.Ser341Arg) c.1006A>C (p.Ser336Arg) | ClinVar dbSNP |
X | g.153869905T= | CA2466506952 | L1CAM | c.1021A= (p.Ser341=) c.1006A= (p.Ser336=) | |
X | g.153869906C>A | CA415131093 | L1CAM | c.1020G>T (p.Gln340His) c.1005G>T (p.Gln335His) | |
X | g.153869906C= | CA2466506953 | L1CAM | c.1020G= (p.Gln340=) c.1005G= (p.Gln335=) | |
X | g.153869906C>G | CA415131096 | L1CAM | c.1020G>C (p.Gln340His) c.1005G>C (p.Gln335His) | |
X | g.153869906C>T | CA10554444 | L1CAM | c.1020G>A (p.Gln340=) c.1005G>A (p.Gln335=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.153869907T>A | CA415131103 | L1CAM | c.1019A>T (p.Gln340Leu) c.1004A>T (p.Gln335Leu) | COSMIC |
X | g.153869907T>C | CA415131107 | L1CAM | c.1019A>G (p.Gln340Arg) c.1004A>G (p.Gln335Arg) | |
X | g.153869907T>G | CA415131117 | L1CAM | c.1019A>C (p.Gln340Pro) c.1004A>C (p.Gln335Pro) | |
X | g.153869908G>A | CA415131128 | L1CAM | c.1018C>T (p.Gln340Ter) c.1003C>T (p.Gln335Ter) | |
X | g.153869908G>C | CA415131122 | L1CAM | c.1018C>G (p.Gln340Glu) c.1003C>G (p.Gln335Glu) | |
X | g.153869908G>T | CA415131119 | L1CAM | c.1018C>A (p.Gln340Lys) c.1003C>A (p.Gln335Lys) | |
X | g.153869911del | CA2695236871 | L1CAM | c.1018del (p.Gln340ArgfsTer?) c.1003del (p.Gln335ArgfsTer?) | |
X | g.153869909G>A | CA519343980 | L1CAM | c.1017C>T (p.Pro339=) c.1002C>T (p.Pro334=) | |
X | g.153869909G>C | CA519343979 | L1CAM | c.1017C>G (p.Pro339=) c.1002C>G (p.Pro334=) | |
X | g.153869909G>T | CA519343978 | L1CAM | c.1017C>A (p.Pro339=) c.1002C>A (p.Pro334=) | |
X | g.153869910G>A | CA415131130 | L1CAM | c.1016C>T (p.Pro339Leu) c.1001C>T (p.Pro334Leu) | |
X | g.153869910G>C | CA415131131 | L1CAM | c.1016C>G (p.Pro339Arg) c.1001C>G (p.Pro334Arg) | |
X | g.153869910G>T | CA415131137 | L1CAM | c.1016C>A (p.Pro339His) c.1001C>A (p.Pro334His) | |
X | g.153869911G>A | CA415131138 | L1CAM | c.1015C>T (p.Pro339Ser) c.1000C>T (p.Pro334Ser) | gnomAD v4 |
X | g.153869911G>C | CA415131139 | L1CAM | c.1015C>G (p.Pro339Ala) c.1000C>G (p.Pro334Ala) | |
X | g.153869911G>T | CA415131140 | L1CAM | c.1015C>A (p.Pro339Thr) c.1000C>A (p.Pro334Thr) | |
X | g.153869912C>A | CA415131142 | L1CAM | c.1014G>T (p.Lys338Asn) c.999G>T (p.Lys333Asn) | |
X | g.153869912C= | CA2466506954 | L1CAM | c.1014G= (p.Lys338=) c.999G= (p.Lys333=) | |
X | g.153869912C>G | CA415131144 | L1CAM | c.1014G>C (p.Lys338Asn) c.999G>C (p.Lys333Asn) | |
X | g.153869912C>T | CA519343981 | L1CAM | c.1014G>A (p.Lys338=) c.999G>A (p.Lys333=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.153869913T>A | CA415131147 | L1CAM | c.1013A>T (p.Lys338Met) c.998A>T (p.Lys333Met) | |
X | g.153869913T>C | CA415131150 | L1CAM | c.1013A>G (p.Lys338Arg) c.998A>G (p.Lys333Arg) | |
X | g.153869913T>G | CA415131151 | L1CAM | c.1013A>C (p.Lys338Thr) c.998A>C (p.Lys333Thr) | |
X | g.153869914T>A | CA415131157 | L1CAM | c.1012A>T (p.Lys338Ter) c.997A>T (p.Lys333Ter) | |
X | g.153869914T>C | CA415131160 | L1CAM | c.1012A>G (p.Lys338Glu) c.997A>G (p.Lys333Glu) | |
X | g.153869914T>G | CA415131154 | L1CAM | c.1012A>C (p.Lys338Gln) c.997A>C (p.Lys333Gln) | |
X | g.153869915G>A | CA519343982 | L1CAM | c.1011C>T (p.His337=) c.996C>T (p.His332=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.153869915G>C | CA415131161 | L1CAM | c.1011C>G (p.His337Gln) c.996C>G (p.His332Gln) | dbSNP |
X | g.153869915G= | CA2466506955 | L1CAM | c.1011C= (p.His337=) c.996C= (p.His332=) | |
X | g.153869915G>T | CA415131163 | L1CAM | c.1011C>A (p.His337Gln) c.996C>A (p.His332Gln) | |
X | g.153869916T>A | CA415131169 | L1CAM | c.1010A>T (p.His337Leu) c.995A>T (p.His332Leu) | |
X | g.153869916T>C | CA415131171 | L1CAM | c.1010A>G (p.His337Arg) c.995A>G (p.His332Arg) | |
X | g.153869916T>G | CA415131173 | L1CAM | c.1010A>C (p.His337Pro) c.995A>C (p.His332Pro) | |
X | g.153869917G>A | CA415131176 | L1CAM | c.1009C>T (p.His337Tyr) c.994C>T (p.His332Tyr) | |
X | g.153869917G>C | CA415131178 | L1CAM | c.1009C>G (p.His337Asp) c.994C>G (p.His332Asp) | dbSNP gnomAD v2 gnomAD v4 |
X | g.153869917G= | CA2466506956 | L1CAM | c.1009C= (p.His337=) c.994C= (p.His332=) | |
X | g.153869917G>T | CA415131181 | L1CAM | c.1009C>A (p.His337Asn) c.994C>A (p.His332Asn) | |
X | g.153869918C>A | CA519343983 | L1CAM | c.1008G>T (p.Leu336=) c.993G>T (p.Leu331=) | |
X | g.153869918C= | CA2466506957 | L1CAM | c.1008G= (p.Leu336=) c.993G= (p.Leu331=) | |
X | g.153869918C>G | CA519343984 | L1CAM | c.1008G>C (p.Leu336=) c.993G>C (p.Leu331=) | |
X | g.153869918C>T | CA10554445 | L1CAM | c.1008G>A (p.Leu336=) c.993G>A (p.Leu331=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153869919A>C | CA415131187 | L1CAM | c.1007T>G (p.Leu336Arg) c.992T>G (p.Leu331Arg) | |
X | g.153869919A>G | CA415131189 | L1CAM | c.1007T>C (p.Leu336Pro) c.992T>C (p.Leu331Pro) | |
X | g.153869919A>T | CA415131190 | L1CAM | c.1007T>A (p.Leu336Gln) c.992T>A (p.Leu331Gln) | |
X | g.153869920G>A | CA519343985 | L1CAM | c.1006C>T (p.Leu336=) c.991C>T (p.Leu331=) | gnomAD v4 |
X | g.153869920G>C | CA415131192 | L1CAM | c.1006C>G (p.Leu336Val) c.991C>G (p.Leu331Val) | |
X | g.153869920G>T | CA415131191 | L1CAM | c.1006C>A (p.Leu336Met) c.991C>A (p.Leu331Met) | |
X | g.153869921C>A | CA415131193 | L1CAM | c.1005G>T (p.Trp335Cys) c.990G>T (p.Trp330Cys) | |
X | g.153869921C>G | CA415131194 | L1CAM | c.1005G>C (p.Trp335Cys) c.990G>C (p.Trp330Cys) | |
X | g.153869921C>T | CA415131197 | L1CAM | c.1005G>A (p.Trp335Ter) c.990G>A (p.Trp330Ter) | |
X | g.153869922C>A | CA415131204 | L1CAM | c.1004G>T (p.Trp335Leu) c.989G>T (p.Trp330Leu) | |
X | g.153869922C>G | CA415131207 | L1CAM | c.1004G>C (p.Trp335Ser) c.989G>C (p.Trp330Ser) | |
X | g.153869922C>T | CA415131210 | L1CAM | c.1004G>A (p.Trp335Ter) c.989G>A (p.Trp330Ter) | |
X | g.153869923A>C | CA415131216 | L1CAM | c.1003T>G (p.Trp335Gly) c.988T>G (p.Trp330Gly) | |
X | g.153869923A>G | CA415131217 | L1CAM | c.1003T>C (p.Trp335Arg) c.988T>C (p.Trp330Arg) | |
X | g.153869923A>T | CA415131224 | L1CAM | c.1003T>A (p.Trp335Arg) c.988T>A (p.Trp330Arg) | |
X | g.153869924G>A | CA203714 | L1CAM | c.1002C>T (p.Tyr334=) c.987C>T (p.Tyr329=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153869924G>C | CA415131227 | L1CAM | c.1002C>G (p.Tyr334Ter) c.987C>G (p.Tyr329Ter) | |
X | g.153869924G= | CA2466506958 | L1CAM | c.1002C= (p.Tyr334=) c.987C= (p.Tyr329=) | |
X | g.153869924G>T | CA415131230 | L1CAM | c.1002C>A (p.Tyr334Ter) c.987C>A (p.Tyr329Ter) | |
X | g.153869925T>A | CA415131256 | L1CAM | c.1001A>T (p.Tyr334Phe) c.986A>T (p.Tyr329Phe) | |
X | g.153869925T>C | CA415131253 | L1CAM | c.1001A>G (p.Tyr334Cys) c.986A>G (p.Tyr329Cys) | |
X | g.153869925T>G | CA415131233 | L1CAM | c.1001A>C (p.Tyr334Ser) c.986A>C (p.Tyr329Ser) | |
X | g.153869926A>C | CA415131260 | L1CAM | c.1000T>G (p.Tyr334Asp) c.985T>G (p.Tyr329Asp) | |
X | g.153869926A>G | CA415131262 | L1CAM | c.1000T>C (p.Tyr334His) c.985T>C (p.Tyr329His) | |
X | g.153869926A>T | CA415131261 | L1CAM | c.1000T>A (p.Tyr334Asn) c.985T>A (p.Tyr329Asn) | |
X | g.153869927C>A | CA10554446 | L1CAM | c.999G>T (p.Pro333=) c.984G>T (p.Pro328=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153869927C= | CA2466506959 | L1CAM | c.999G= (p.Pro333=) c.984G= (p.Pro328=) | |
X | g.153869927C>G | CA519343986 | L1CAM | c.999G>C (p.Pro333=) c.984G>C (p.Pro328=) | |
X | g.153869927C>T | CA519343987 | L1CAM | c.999G>A (p.Pro333=) c.984G>A (p.Pro328=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.153869928G>A | CA415131263 | L1CAM | c.998C>T (p.Pro333Leu) c.983C>T (p.Pro328Leu) | |
X | g.153869928G>C | CA16621236 | L1CAM | c.998C>G (p.Pro333Arg) c.983C>G (p.Pro328Arg) | ClinVar dbSNP |
X | g.153869928G= | CA2466506960 | L1CAM | c.998C= (p.Pro333=) c.983C= (p.Pro328=) | |
X | g.153869928G>T | CA415131267 | L1CAM | c.998C>A (p.Pro333Gln) c.983C>A (p.Pro328Gln) | |
X | g.153869929G>A | CA415131270 | L1CAM | c.997C>T (p.Pro333Ser) c.982C>T (p.Pro328Ser) | dbSNP |
X | g.153869929G>C | CA415131271 | L1CAM | c.997C>G (p.Pro333Ala) c.982C>G (p.Pro328Ala) | gnomAD v4 |
X | g.153869929G>T | CA415131275 | L1CAM | c.997C>A (p.Pro333Thr) c.982C>A (p.Pro328Thr) | |
X | g.153869930G>A | CA519343988 | L1CAM | c.996C>T (p.Ala332=) c.981C>T (p.Ala327=) | ClinVar |
X | g.153869930G>C | CA519343989 | L1CAM | c.996C>G (p.Ala332=) c.981C>G (p.Ala327=) | |
X | g.153869930G>T | CA519343990 | L1CAM | c.996C>A (p.Ala332=) c.981C>A (p.Ala327=) | |
X | g.153869931G>A | CA415131278 | L1CAM | c.995C>T (p.Ala332Val) c.980C>T (p.Ala327Val) | |
X | g.153869931G>C | CA415131289 | L1CAM | c.995C>G (p.Ala332Gly) c.980C>G (p.Ala327Gly) | |
X | g.153869931G>T | CA415131293 | L1CAM | c.995C>A (p.Ala332Asp) c.980C>A (p.Ala327Asp) | |
X | g.153869932C>A | CA415131301 | L1CAM | c.994G>T (p.Ala332Ser) c.979G>T (p.Ala327Ser) | |
X | g.153869932C>G | CA415131300 | L1CAM | c.994G>C (p.Ala332Pro) c.979G>C (p.Ala327Pro) | |
X | g.153869932C>T | CA415131297 | L1CAM | c.994G>A (p.Ala332Thr) c.979G>A (p.Ala327Thr) |