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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.77935821A>C | CA340877982 | NEXN | c.1252-2A>C (n.1252-2A>C) c.1060-2A>C (n.1060-2A>C) c.951-2A>C c.1210-2A>C (n.1210-2A>C) n.712-2A>C n.826-2A>C c.1251+2342A>C (n.1251+2342A>C) c.1018-2A>C (n.1018-2A>C) c.835-2A>C (n.835-2A>C) | |
| 1 | g.77935821A>G | CA340877989 | NEXN | c.1252-2A>G (n.1252-2A>G) c.1060-2A>G (n.1060-2A>G) c.951-2A>G c.1210-2A>G (n.1210-2A>G) n.712-2A>G n.826-2A>G c.1251+2342A>G (n.1251+2342A>G) c.1018-2A>G (n.1018-2A>G) c.835-2A>G (n.835-2A>G) | |
| 1 | g.77935821A>T | CA340877993 | NEXN | c.1252-2A>T (n.1252-2A>T) c.1060-2A>T (n.1060-2A>T) c.951-2A>T c.1210-2A>T (n.1210-2A>T) n.712-2A>T n.826-2A>T c.1251+2342A>T (n.1251+2342A>T) c.1018-2A>T (n.1018-2A>T) c.835-2A>T (n.835-2A>T) | |
| 1 | g.77935822G>A | CA340877997 | NEXN | c.1252-1G>A (n.1252-1G>A) c.1060-1G>A (n.1060-1G>A) c.951-1G>A c.1210-1G>A (n.1210-1G>A) n.712-1G>A n.826-1G>A c.1251+2343G>A (n.1251+2343G>A) c.1018-1G>A (n.1018-1G>A) c.835-1G>A (n.835-1G>A) | ClinVar dbSNP |
| 1 | g.77935822G>C | CA340877999 | NEXN | c.1252-1G>C (n.1252-1G>C) c.1060-1G>C (n.1060-1G>C) c.951-1G>C c.1210-1G>C (n.1210-1G>C) n.712-1G>C n.826-1G>C c.1251+2343G>C (n.1251+2343G>C) c.1018-1G>C (n.1018-1G>C) c.835-1G>C (n.835-1G>C) | |
| 1 | g.77935822G= | CA1177628263 | NEXN | c.1252-1G= (n.1252-1G=) c.1060-1G= (n.1060-1G=) c.951-1G= c.1210-1G= (n.1210-1G=) n.712-1G= n.826-1G= c.1251+2343G= (n.1251+2343G=) c.1018-1G= (n.1018-1G=) c.835-1G= (n.835-1G=) | |
| 1 | g.77935822G>T | CA340878002 | NEXN | c.1252-1G>T (n.1252-1G>T) c.1060-1G>T (n.1060-1G>T) c.951-1G>T c.1210-1G>T (n.1210-1G>T) n.712-1G>T n.826-1G>T c.1251+2343G>T (n.1251+2343G>T) c.1018-1G>T (n.1018-1G>T) c.835-1G>T (n.835-1G>T) | |
| 1 | g.77935823G>A | CA340878006 | NEXN | c.1252G>A (p.Glu418Lys) c.1060G>A (p.Glu354Lys) c.951G>A c.1210G>A (p.Glu404Lys) n.712G>A n.826G>A c.1251+2344G>A (n.1251+2344G>A) c.1018G>A (p.Glu340Lys) c.835G>A (p.Glu279Lys) | |
| 1 | g.77935823G>C | CA340878014 | NEXN | c.1252G>C (p.Glu418Gln) c.1060G>C (p.Glu354Gln) c.951G>C c.1210G>C (p.Glu404Gln) n.712G>C n.826G>C c.1251+2344G>C (n.1251+2344G>C) c.1018G>C (p.Glu340Gln) c.835G>C (p.Glu279Gln) | |
| 1 | g.77935823G>T | CA340878009 | NEXN | c.1252G>T (p.Glu418Ter) c.1060G>T (p.Glu354Ter) c.951G>T c.1210G>T (p.Glu404Ter) n.712G>T n.826G>T c.1251+2344G>T (n.1251+2344G>T) c.1018G>T (p.Glu340Ter) c.835G>T (p.Glu279Ter) | |
| 1 | g.77935824A>C | CA340878018 | NEXN | c.1253A>C (p.Glu418Ala) c.1061A>C (p.Glu354Ala) c.952A>C c.1211A>C (p.Glu404Ala) n.713A>C n.827A>C c.1251+2345A>C (n.1251+2345A>C) c.1019A>C (p.Glu340Ala) c.836A>C (p.Glu279Ala) | |
| 1 | g.77935824A>G | CA340878020 | NEXN | c.1253A>G (p.Glu418Gly) c.1061A>G (p.Glu354Gly) c.952A>G c.1211A>G (p.Glu404Gly) n.713A>G n.827A>G c.1251+2345A>G (n.1251+2345A>G) c.1019A>G (p.Glu340Gly) c.836A>G (p.Glu279Gly) | |
| 1 | g.77935824A>T | CA340878019 | NEXN | c.1253A>T (p.Glu418Val) c.1061A>T (p.Glu354Val) c.952A>T c.1211A>T (p.Glu404Val) n.713A>T n.827A>T c.1251+2345A>T (n.1251+2345A>T) c.1019A>T (p.Glu340Val) c.836A>T (p.Glu279Val) | |
| 1 | g.77935825del | CA2646274711 | NEXN | c.1254del (p.Glu419ArgfsTer9) c.1062del (p.Glu355ArgfsTer9) c.953del c.1212del (p.Glu405ArgfsTer9) n.714del n.828del c.1251+2346del (n.1251+2346del) c.1020del (p.Glu341ArgfsTer9) c.837del (p.Glu280ArgfsTer9) | gnomAD v4 |
| 1 | g.77935825A>C | CA340878021 | NEXN | c.1254A>C (p.Glu418Asp) c.1062A>C (p.Glu354Asp) c.953A>C c.1212A>C (p.Glu404Asp) n.714A>C n.828A>C c.1251+2346A>C (n.1251+2346A>C) c.1020A>C (p.Glu340Asp) c.837A>C (p.Glu279Asp) | |
| 1 | g.77935825A>G | CA418709358 | NEXN | c.1254A>G (p.Glu418=) c.1062A>G (p.Glu354=) c.953A>G c.1212A>G (p.Glu404=) n.714A>G n.828A>G c.1251+2346A>G (n.1251+2346A>G) c.1020A>G (p.Glu340=) c.837A>G (p.Glu279=) | gnomAD v4 |
| 1 | g.77935825A>T | CA340878022 | NEXN | c.1254A>T (p.Glu418Asp) c.1062A>T (p.Glu354Asp) c.953A>T c.1212A>T (p.Glu404Asp) n.714A>T n.828A>T c.1251+2346A>T (n.1251+2346A>T) c.1020A>T (p.Glu340Asp) c.837A>T (p.Glu279Asp) | |
| 1 | g.77935826G>A | CA340878023 | NEXN | c.1255G>A (p.Glu419Lys) c.1063G>A (p.Glu355Lys) c.954G>A c.1213G>A (p.Glu405Lys) n.715G>A n.829G>A c.1251+2347G>A (n.1251+2347G>A) c.1021G>A (p.Glu341Lys) c.838G>A (p.Glu280Lys) | dbSNP gnomAD v4 |
| 1 | g.77935826G>C | CA340878025 | NEXN | c.1255G>C (p.Glu419Gln) c.1063G>C (p.Glu355Gln) c.954G>C c.1213G>C (p.Glu405Gln) n.715G>C n.829G>C c.1251+2347G>C (n.1251+2347G>C) c.1021G>C (p.Glu341Gln) c.838G>C (p.Glu280Gln) | |
| 1 | g.77935826G= | CA1177628264 | NEXN | c.1255G= (p.Glu419=) c.1063G= (p.Glu355=) c.954G= c.1213G= (p.Glu405=) n.715G= n.829G= c.1251+2347G= (n.1251+2347G=) c.1021G= (p.Glu341=) c.838G= (p.Glu280=) | |
| 1 | g.77935826G>T | CA340878027 | NEXN | c.1255G>T (p.Glu419Ter) c.1063G>T (p.Glu355Ter) c.954G>T c.1213G>T (p.Glu405Ter) n.715G>T n.829G>T c.1251+2347G>T (n.1251+2347G>T) c.1021G>T (p.Glu341Ter) c.838G>T (p.Glu280Ter) | |
| 1 | g.77935827A>C | CA340878032 | NEXN | c.1256A>C (p.Glu419Ala) c.1064A>C (p.Glu355Ala) c.955A>C c.1214A>C (p.Glu405Ala) n.716A>C n.830A>C c.1251+2348A>C (n.1251+2348A>C) c.1022A>C (p.Glu341Ala) c.839A>C (p.Glu280Ala) | |
| 1 | g.77935827A>G | CA340878034 | NEXN | c.1256A>G (p.Glu419Gly) c.1064A>G (p.Glu355Gly) c.955A>G c.1214A>G (p.Glu405Gly) n.716A>G n.830A>G c.1251+2348A>G (n.1251+2348A>G) c.1022A>G (p.Glu341Gly) c.839A>G (p.Glu280Gly) | |
| 1 | g.77935827A>T | CA340878037 | NEXN | c.1256A>T (p.Glu419Val) c.1064A>T (p.Glu355Val) c.955A>T c.1214A>T (p.Glu405Val) n.716A>T n.830A>T c.1251+2348A>T (n.1251+2348A>T) c.1022A>T (p.Glu341Val) c.839A>T (p.Glu280Val) | |
| 1 | g.77935828G>A | CA418709360 | NEXN | c.1257G>A (p.Glu419=) c.1065G>A (p.Glu355=) c.956G>A c.1215G>A (p.Glu405=) n.717G>A n.831G>A c.1251+2349G>A (n.1251+2349G>A) c.1023G>A (p.Glu341=) c.840G>A (p.Glu280=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.77935828G>C | CA340878043 | NEXN | c.1257G>C (p.Glu419Asp) c.1065G>C (p.Glu355Asp) c.956G>C c.1215G>C (p.Glu405Asp) n.717G>C n.831G>C c.1251+2349G>C (n.1251+2349G>C) c.1023G>C (p.Glu341Asp) c.840G>C (p.Glu280Asp) | |
| 1 | g.77935828G= | CA1177628265 | NEXN | c.1257G= (p.Glu419=) c.1065G= (p.Glu355=) c.956G= c.1215G= (p.Glu405=) n.717G= n.831G= c.1251+2349G= (n.1251+2349G=) c.1023G= (p.Glu341=) c.840G= (p.Glu280=) | |
| 1 | g.77935828G>T | CA340878044 | NEXN | c.1257G>T (p.Glu419Asp) c.1065G>T (p.Glu355Asp) c.956G>T c.1215G>T (p.Glu405Asp) n.717G>T n.831G>T c.1251+2349G>T (n.1251+2349G>T) c.1023G>T (p.Glu341Asp) c.840G>T (p.Glu280Asp) | |
| 1 | g.77935829G>A | CA340878045 | NEXN | c.1258G>A (p.Glu420Lys) c.1066G>A (p.Glu356Lys) c.957G>A c.1216G>A (p.Glu406Lys) n.718G>A n.832G>A c.1251+2350G>A (n.1251+2350G>A) c.1024G>A (p.Glu342Lys) c.841G>A (p.Glu281Lys) | gnomAD v4 |
| 1 | g.77935829G>C | CA340878046 | NEXN | c.1258G>C (p.Glu420Gln) c.1066G>C (p.Glu356Gln) c.957G>C c.1216G>C (p.Glu406Gln) n.718G>C n.832G>C c.1251+2350G>C (n.1251+2350G>C) c.1024G>C (p.Glu342Gln) c.841G>C (p.Glu281Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.77935829G= | CA1177628266 | NEXN | c.1258G= (p.Glu420=) c.1066G= (p.Glu356=) c.957G= c.1216G= (p.Glu406=) n.718G= n.832G= c.1251+2350G= (n.1251+2350G=) c.1024G= (p.Glu342=) c.841G= (p.Glu281=) | |
| 1 | g.77935829G>T | CA340878047 | NEXN | c.1258G>T (p.Glu420Ter) c.1066G>T (p.Glu356Ter) c.957G>T c.1216G>T (p.Glu406Ter) n.718G>T n.832G>T c.1251+2350G>T (n.1251+2350G>T) c.1024G>T (p.Glu342Ter) c.841G>T (p.Glu281Ter) | |
| 1 | g.77935830A>C | CA340878048 | NEXN | c.1259A>C (p.Glu420Ala) c.1067A>C (p.Glu356Ala) c.958A>C c.1217A>C (p.Glu406Ala) n.719A>C n.833A>C c.1251+2351A>C (n.1251+2351A>C) c.1025A>C (p.Glu342Ala) c.842A>C (p.Glu281Ala) | |
| 1 | g.77935830A>G | CA340878058 | NEXN | c.1259A>G (p.Glu420Gly) c.1067A>G (p.Glu356Gly) c.958A>G c.1217A>G (p.Glu406Gly) n.719A>G n.833A>G c.1251+2351A>G (n.1251+2351A>G) c.1025A>G (p.Glu342Gly) c.842A>G (p.Glu281Gly) | |
| 1 | g.77935830A>T | CA340878054 | NEXN | c.1259A>T (p.Glu420Val) c.1067A>T (p.Glu356Val) c.958A>T c.1217A>T (p.Glu406Val) n.719A>T n.833A>T c.1251+2351A>T (n.1251+2351A>T) c.1025A>T (p.Glu342Val) c.842A>T (p.Glu281Val) | |
| 1 | g.77935831A= | CA1148723744 | NEXN | c.1260A= (p.Glu420=) c.1068A= (p.Glu356=) c.959A= c.1218A= (p.Glu406=) n.720A= n.834A= c.1251+2352A= (n.1251+2352A=) c.1026A= (p.Glu342=) c.843A= (p.Glu281=) | |
| 1 | g.77935831A>C | CA340878059 | NEXN | c.1260A>C (p.Glu420Asp) c.1068A>C (p.Glu356Asp) c.959A>C c.1218A>C (p.Glu406Asp) n.720A>C n.834A>C c.1251+2352A>C (n.1251+2352A>C) c.1026A>C (p.Glu342Asp) c.843A>C (p.Glu281Asp) | |
| 1 | g.77935831A>G | CA418709363 | NEXN | c.1260A>G (p.Glu420=) c.1068A>G (p.Glu356=) c.959A>G c.1218A>G (p.Glu406=) n.720A>G n.834A>G c.1251+2352A>G (n.1251+2352A>G) c.1026A>G (p.Glu342=) c.843A>G (p.Glu281=) | |
| 1 | g.77935831A>T | CA918852 | NEXN | c.1260A>T (p.Glu420Asp) c.1068A>T (p.Glu356Asp) c.959A>T c.1218A>T (p.Glu406Asp) n.720A>T n.834A>T c.1251+2352A>T (n.1251+2352A>T) c.1026A>T (p.Glu342Asp) c.843A>T (p.Glu281Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.77935831_77935832delinsAG | CA1177628267 | NEXN | c.1260_1261delinsAG (p.Glu420=) c.1068_1069delinsAG (p.Glu356=) c.959_960delinsAG c.1218_1219delinsAG (p.Glu406=) n.720_721delinsAG n.834_835delinsAG c.1251+2352_1251+2353delinsAG (n.1251+2352_1251+2353delinsAG) c.1026_1027delinsAG (p.Glu342=) c.843_844delinsAG (p.Glu281=) | |
| 1 | g.77935832del | CA1003482891 | NEXN | c.1261del (p.Glu421LysfsTer7) c.1069del (p.Glu357LysfsTer7) c.960del c.1219del (p.Glu407LysfsTer7) n.721del n.835del c.1251+2353del (n.1251+2353del) c.1027del (p.Glu343LysfsTer7) c.844del (p.Glu282LysfsTer7) | dbSNP |
| 1 | g.77935832G>A | CA340878060 | NEXN | c.1261G>A (p.Glu421Lys) c.1069G>A (p.Glu357Lys) c.960G>A c.1219G>A (p.Glu407Lys) n.721G>A n.835G>A c.1251+2353G>A (n.1251+2353G>A) c.1027G>A (p.Glu343Lys) c.844G>A (p.Glu282Lys) | |
| 1 | g.77935832G>C | CA340878061 | NEXN | c.1261G>C (p.Glu421Gln) c.1069G>C (p.Glu357Gln) c.960G>C c.1219G>C (p.Glu407Gln) n.721G>C n.835G>C c.1251+2353G>C (n.1251+2353G>C) c.1027G>C (p.Glu343Gln) c.844G>C (p.Glu282Gln) | ClinVar |
| 1 | g.77935832G= | CA1177628268 | NEXN | c.1261G= (p.Glu421=) c.1069G= (p.Glu357=) c.960G= c.1219G= (p.Glu407=) n.721G= n.835G= c.1251+2353G= (n.1251+2353G=) c.1027G= (p.Glu343=) c.844G= (p.Glu282=) | |
| 1 | g.77935832G>T | CA340878062 | NEXN | c.1261G>T (p.Glu421Ter) c.1069G>T (p.Glu357Ter) c.960G>T c.1219G>T (p.Glu407Ter) n.721G>T n.835G>T c.1251+2353G>T (n.1251+2353G>T) c.1027G>T (p.Glu343Ter) c.844G>T (p.Glu282Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.77935833A>C | CA340878066 | NEXN | c.1262A>C (p.Glu421Ala) c.1070A>C (p.Glu357Ala) c.961A>C c.1220A>C (p.Glu407Ala) n.722A>C n.836A>C c.1251+2354A>C (n.1251+2354A>C) c.1028A>C (p.Glu343Ala) c.845A>C (p.Glu282Ala) | gnomAD v4 |
| 1 | g.77935833A>G | CA340878070 | NEXN | c.1262A>G (p.Glu421Gly) c.1070A>G (p.Glu357Gly) c.961A>G c.1220A>G (p.Glu407Gly) n.722A>G n.836A>G c.1251+2354A>G (n.1251+2354A>G) c.1028A>G (p.Glu343Gly) c.845A>G (p.Glu282Gly) | |
| 1 | g.77935833A>T | CA340878072 | NEXN | c.1262A>T (p.Glu421Val) c.1070A>T (p.Glu357Val) c.961A>T c.1220A>T (p.Glu407Val) n.722A>T n.836A>T c.1251+2354A>T (n.1251+2354A>T) c.1028A>T (p.Glu343Val) c.845A>T (p.Glu282Val) | ClinVar |
| 1 | g.77935834A>C | CA340878078 | NEXN | c.1263A>C (p.Glu421Asp) c.1071A>C (p.Glu357Asp) c.962A>C c.1221A>C (p.Glu407Asp) n.723A>C n.837A>C c.1251+2355A>C (n.1251+2355A>C) c.1029A>C (p.Glu343Asp) c.846A>C (p.Glu282Asp) | |
| 1 | g.77935834A>G | CA418709367 | NEXN | c.1263A>G (p.Glu421=) c.1071A>G (p.Glu357=) c.962A>G c.1221A>G (p.Glu407=) n.723A>G n.837A>G c.1251+2355A>G (n.1251+2355A>G) c.1029A>G (p.Glu343=) c.846A>G (p.Glu282=) | |
| 1 | g.77935834A>T | CA340878081 | NEXN | c.1263A>T (p.Glu421Asp) c.1071A>T (p.Glu357Asp) c.962A>T c.1221A>T (p.Glu407Asp) n.723A>T n.837A>T c.1251+2355A>T (n.1251+2355A>T) c.1029A>T (p.Glu343Asp) c.846A>T (p.Glu282Asp) | |
| 1 | g.77935835A>C | CA340878106 | NEXN | c.1264A>C (p.Asn422His) c.1072A>C (p.Asn358His) c.963A>C c.1222A>C (p.Asn408His) n.724A>C n.838A>C c.1251+2356A>C (n.1251+2356A>C) c.1030A>C (p.Asn344His) c.847A>C (p.Asn283His) | |
| 1 | g.77935835A>G | CA340878103 | NEXN | c.1264A>G (p.Asn422Asp) c.1072A>G (p.Asn358Asp) c.963A>G c.1222A>G (p.Asn408Asp) n.724A>G n.838A>G c.1251+2356A>G (n.1251+2356A>G) c.1030A>G (p.Asn344Asp) c.847A>G (p.Asn283Asp) | |
| 1 | g.77935835A>T | CA340878085 | NEXN | c.1264A>T (p.Asn422Tyr) c.1072A>T (p.Asn358Tyr) c.963A>T c.1222A>T (p.Asn408Tyr) n.724A>T n.838A>T c.1251+2356A>T (n.1251+2356A>T) c.1030A>T (p.Asn344Tyr) c.847A>T (p.Asn283Tyr) | |
| 1 | g.77935836A>C | CA340878109 | NEXN | c.1265A>C (p.Asn422Thr) c.1073A>C (p.Asn358Thr) c.964A>C c.1223A>C (p.Asn408Thr) n.725A>C n.839A>C c.1251+2357A>C (n.1251+2357A>C) c.1031A>C (p.Asn344Thr) c.848A>C (p.Asn283Thr) | |
| 1 | g.77935836A>G | CA340878110 | NEXN | c.1265A>G (p.Asn422Ser) c.1073A>G (p.Asn358Ser) c.964A>G c.1223A>G (p.Asn408Ser) n.725A>G n.839A>G c.1251+2357A>G (n.1251+2357A>G) c.1031A>G (p.Asn344Ser) c.848A>G (p.Asn283Ser) | |
| 1 | g.77935836A>T | CA340878111 | NEXN | c.1265A>T (p.Asn422Ile) c.1073A>T (p.Asn358Ile) c.964A>T c.1223A>T (p.Asn408Ile) n.725A>T n.839A>T c.1251+2357A>T (n.1251+2357A>T) c.1031A>T (p.Asn344Ile) c.848A>T (p.Asn283Ile) | |
| 1 | g.77935837T>A | CA340878113 | NEXN | c.1266T>A (p.Asn422Lys) c.1074T>A (p.Asn358Lys) c.965T>A c.1224T>A (p.Asn408Lys) n.726T>A n.840T>A c.1251+2358T>A (n.1251+2358T>A) c.1032T>A (p.Asn344Lys) c.849T>A (p.Asn283Lys) | |
| 1 | g.77935837T>C | CA418709369 | NEXN | c.1266T>C (p.Asn422=) c.1074T>C (p.Asn358=) c.965T>C c.1224T>C (p.Asn408=) n.726T>C n.840T>C c.1251+2358T>C (n.1251+2358T>C) c.1032T>C (p.Asn344=) c.849T>C (p.Asn283=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.77935837T>G | CA340878116 | NEXN | c.1266T>G (p.Asn422Lys) c.1074T>G (p.Asn358Lys) c.965T>G c.1224T>G (p.Asn408Lys) n.726T>G n.840T>G c.1251+2358T>G (n.1251+2358T>G) c.1032T>G (p.Asn344Lys) c.849T>G (p.Asn283Lys) | |
| 1 | g.77935837T= | CA1177628269 | NEXN | c.1266T= (p.Asn422=) c.1074T= (p.Asn358=) c.965T= c.1224T= (p.Asn408=) n.726T= n.840T= c.1251+2358T= (n.1251+2358T=) c.1032T= (p.Asn344=) c.849T= (p.Asn283=) | |
| 1 | g.77935838del | CA2646274712 | NEXN | c.1267del (p.Glu423LysfsTer5) c.1075del (p.Glu359LysfsTer5) c.966del c.1225del (p.Glu409LysfsTer5) n.727del n.841del c.1251+2359del (n.1251+2359del) c.1033del (p.Glu345LysfsTer5) c.850del (p.Glu284LysfsTer5) | gnomAD v4 |
| 1 | g.77935838G>A | CA340878120 | NEXN | c.1267G>A (p.Glu423Lys) c.1075G>A (p.Glu359Lys) c.966G>A c.1225G>A (p.Glu409Lys) n.727G>A n.841G>A c.1251+2359G>A (n.1251+2359G>A) c.1033G>A (p.Glu345Lys) c.850G>A (p.Glu284Lys) | dbSNP |
| 1 | g.77935838G>C | CA340878124 | NEXN | c.1267G>C (p.Glu423Gln) c.1075G>C (p.Glu359Gln) c.966G>C c.1225G>C (p.Glu409Gln) n.727G>C n.841G>C c.1251+2359G>C (n.1251+2359G>C) c.1033G>C (p.Glu345Gln) c.850G>C (p.Glu284Gln) | |
| 1 | g.77935838G>T | CA340878128 | NEXN | c.1267G>T (p.Glu423Ter) c.1075G>T (p.Glu359Ter) c.966G>T c.1225G>T (p.Glu409Ter) n.727G>T n.841G>T c.1251+2359G>T (n.1251+2359G>T) c.1033G>T (p.Glu345Ter) c.850G>T (p.Glu284Ter) | |
| 1 | g.77935839A>C | CA340878131 | NEXN | c.1268A>C (p.Glu423Ala) c.1076A>C (p.Glu359Ala) c.967A>C c.1226A>C (p.Glu409Ala) n.728A>C n.842A>C c.1251+2360A>C (n.1251+2360A>C) c.1034A>C (p.Glu345Ala) c.851A>C (p.Glu284Ala) | |
| 1 | g.77935839A>G | CA340878132 | NEXN | c.1268A>G (p.Glu423Gly) c.1076A>G (p.Glu359Gly) c.967A>G c.1226A>G (p.Glu409Gly) n.728A>G n.842A>G c.1251+2360A>G (n.1251+2360A>G) c.1034A>G (p.Glu345Gly) c.851A>G (p.Glu284Gly) | |
| 1 | g.77935839A>T | CA340878139 | NEXN | c.1268A>T (p.Glu423Val) c.1076A>T (p.Glu359Val) c.967A>T c.1226A>T (p.Glu409Val) n.728A>T n.842A>T c.1251+2360A>T (n.1251+2360A>T) c.1034A>T (p.Glu345Val) c.851A>T (p.Glu284Val) | |
| 1 | g.77935840A>C | CA340878142 | NEXN | c.1269A>C (p.Glu423Asp) c.1077A>C (p.Glu359Asp) c.968A>C c.1227A>C (p.Glu409Asp) n.729A>C n.843A>C c.1251+2361A>C (n.1251+2361A>C) c.1035A>C (p.Glu345Asp) c.852A>C (p.Glu284Asp) | |
| 1 | g.77935840A>G | CA418709372 | NEXN | c.1269A>G (p.Glu423=) c.1077A>G (p.Glu359=) c.968A>G c.1227A>G (p.Glu409=) n.729A>G n.843A>G c.1251+2361A>G (n.1251+2361A>G) c.1035A>G (p.Glu345=) c.852A>G (p.Glu284=) | |
| 1 | g.77935840A>T | CA340878145 | NEXN | c.1269A>T (p.Glu423Asp) c.1077A>T (p.Glu359Asp) c.968A>T c.1227A>T (p.Glu409Asp) n.729A>T n.843A>T c.1251+2361A>T (n.1251+2361A>T) c.1035A>T (p.Glu345Asp) c.852A>T (p.Glu284Asp) | |
| 1 | g.77935841A>C | CA340878161 | NEXN | c.1270A>C (p.Thr424Pro) c.1078A>C (p.Thr360Pro) c.969A>C c.1228A>C (p.Thr410Pro) n.730A>C n.844A>C c.1251+2362A>C (n.1251+2362A>C) c.1036A>C (p.Thr346Pro) c.853A>C (p.Thr285Pro) | |
| 1 | g.77935841A>G | CA340878148 | NEXN | c.1270A>G (p.Thr424Ala) c.1078A>G (p.Thr360Ala) c.969A>G c.1228A>G (p.Thr410Ala) n.730A>G n.844A>G c.1251+2362A>G (n.1251+2362A>G) c.1036A>G (p.Thr346Ala) c.853A>G (p.Thr285Ala) | |
| 1 | g.77935841A>T | CA340878157 | NEXN | c.1270A>T (p.Thr424Ser) c.1078A>T (p.Thr360Ser) c.969A>T c.1228A>T (p.Thr410Ser) n.730A>T n.844A>T c.1251+2362A>T (n.1251+2362A>T) c.1036A>T (p.Thr346Ser) c.853A>T (p.Thr285Ser) | |
| 1 | g.77935842C>A | CA340878167 | NEXN | c.1271C>A (p.Thr424Asn) c.1079C>A (p.Thr360Asn) c.970C>A c.1229C>A (p.Thr410Asn) n.731C>A n.845C>A c.1251+2363C>A (n.1251+2363C>A) c.1037C>A (p.Thr346Asn) c.854C>A (p.Thr285Asn) | ClinVar dbSNP gnomAD v4 |
| 1 | g.77935842C= | CA1143417799 | NEXN | c.1271C= (p.Thr424=) c.1079C= (p.Thr360=) c.970C= c.1229C= (p.Thr410=) n.731C= n.845C= c.1251+2363C= (n.1251+2363C=) c.1037C= (p.Thr346=) c.854C= (p.Thr285=) | |
| 1 | g.77935842C>G | CA24686381 | NEXN | c.1271C>G (p.Thr424Ser) c.1079C>G (p.Thr360Ser) c.970C>G c.1229C>G (p.Thr410Ser) n.731C>G n.845C>G c.1251+2363C>G (n.1251+2363C>G) c.1037C>G (p.Thr346Ser) c.854C>G (p.Thr285Ser) | dbSNP |
| 1 | g.77935842C>T | CA335412 | NEXN | c.1271C>T (p.Thr424Ile) c.1079C>T (p.Thr360Ile) c.970C>T c.1229C>T (p.Thr410Ile) n.731C>T n.845C>T c.1251+2363C>T (n.1251+2363C>T) c.1037C>T (p.Thr346Ile) c.854C>T (p.Thr285Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.77935843C>A | CA418709373 | NEXN | c.1272C>A (p.Thr424=) c.1080C>A (p.Thr360=) c.971C>A c.1230C>A (p.Thr410=) n.732C>A n.846C>A c.1251+2364C>A (n.1251+2364C>A) c.1038C>A (p.Thr346=) c.855C>A (p.Thr285=) | dbSNP gnomAD v4 |
| 1 | g.77935843C= | CA1177628270 | NEXN | c.1272C= (p.Thr424=) c.1080C= (p.Thr360=) c.971C= c.1230C= (p.Thr410=) n.732C= n.846C= c.1251+2364C= (n.1251+2364C=) c.1038C= (p.Thr346=) c.855C= (p.Thr285=) | |
| 1 | g.77935843C>G | CA418709375 | NEXN | c.1272C>G (p.Thr424=) c.1080C>G (p.Thr360=) c.971C>G c.1230C>G (p.Thr410=) n.732C>G n.846C>G c.1251+2364C>G (n.1251+2364C>G) c.1038C>G (p.Thr346=) c.855C>G (p.Thr285=) | |
| 1 | g.77935843C>T | CA418709374 | NEXN | c.1272C>T (p.Thr424=) c.1080C>T (p.Thr360=) c.971C>T c.1230C>T (p.Thr410=) n.732C>T n.846C>T c.1251+2364C>T (n.1251+2364C>T) c.1038C>T (p.Thr346=) c.855C>T (p.Thr285=) | |
| 1 | g.77935844T>A | CA340878170 | NEXN | c.1273T>A (p.Phe425Ile) c.1081T>A (p.Phe361Ile) c.972T>A c.1231T>A (p.Phe411Ile) n.733T>A n.847T>A c.1251+2365T>A (n.1251+2365T>A) c.1039T>A (p.Phe347Ile) c.856T>A (p.Phe286Ile) | |
| 1 | g.77935844T>C | CA340878172 | NEXN | c.1273T>C (p.Phe425Leu) c.1081T>C (p.Phe361Leu) c.972T>C c.1231T>C (p.Phe411Leu) n.733T>C n.847T>C c.1251+2365T>C (n.1251+2365T>C) c.1039T>C (p.Phe347Leu) c.856T>C (p.Phe286Leu) | |
| 1 | g.77935844T>G | CA340878177 | NEXN | c.1273T>G (p.Phe425Val) c.1081T>G (p.Phe361Val) c.972T>G c.1231T>G (p.Phe411Val) n.733T>G n.847T>G c.1251+2365T>G (n.1251+2365T>G) c.1039T>G (p.Phe347Val) c.856T>G (p.Phe286Val) | |
| 1 | g.77935845T>A | CA340878181 | NEXN | c.1274T>A (p.Phe425Tyr) c.1082T>A (p.Phe361Tyr) c.973T>A c.1232T>A (p.Phe411Tyr) n.734T>A n.848T>A c.1251+2366T>A (n.1251+2366T>A) c.1040T>A (p.Phe347Tyr) c.857T>A (p.Phe286Tyr) | |
| 1 | g.77935845T>C | CA340878208 | NEXN | c.1274T>C (p.Phe425Ser) c.1082T>C (p.Phe361Ser) c.973T>C c.1232T>C (p.Phe411Ser) n.734T>C n.848T>C c.1251+2366T>C (n.1251+2366T>C) c.1040T>C (p.Phe347Ser) c.857T>C (p.Phe286Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.77935845T>G | CA340878214 | NEXN | c.1274T>G (p.Phe425Cys) c.1082T>G (p.Phe361Cys) c.973T>G c.1232T>G (p.Phe411Cys) n.734T>G n.848T>G c.1251+2366T>G (n.1251+2366T>G) c.1040T>G (p.Phe347Cys) c.857T>G (p.Phe286Cys) | |
| 1 | g.77935845T= | CA1177628271 | NEXN | c.1274T= (p.Phe425=) c.1082T= (p.Phe361=) c.973T= c.1232T= (p.Phe411=) n.734T= n.848T= c.1251+2366T= (n.1251+2366T=) c.1040T= (p.Phe347=) c.857T= (p.Phe286=) | |
| 1 | g.77935846T>A | CA340878216 | NEXN | c.1275T>A (p.Phe425Leu) c.1083T>A (p.Phe361Leu) c.974T>A c.1233T>A (p.Phe411Leu) n.735T>A n.849T>A c.1251+2367T>A (n.1251+2367T>A) c.1041T>A (p.Phe347Leu) c.858T>A (p.Phe286Leu) | |
| 1 | g.77935846T>C | CA16603757 | NEXN | c.1275T>C (p.Phe425=) c.1083T>C (p.Phe361=) c.974T>C c.1233T>C (p.Phe411=) n.735T>C n.849T>C c.1251+2367T>C (n.1251+2367T>C) c.1041T>C (p.Phe347=) c.858T>C (p.Phe286=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.77935846T>G | CA340878224 | NEXN | c.1275T>G (p.Phe425Leu) c.1083T>G (p.Phe361Leu) c.974T>G c.1233T>G (p.Phe411Leu) n.735T>G n.849T>G c.1251+2367T>G (n.1251+2367T>G) c.1041T>G (p.Phe347Leu) c.858T>G (p.Phe286Leu) | |
| 1 | g.77935846T= | CA1177628272 | NEXN | c.1275T= (p.Phe425=) c.1083T= (p.Phe361=) c.974T= c.1233T= (p.Phe411=) n.735T= n.849T= c.1251+2367T= (n.1251+2367T=) c.1041T= (p.Phe347=) c.858T= (p.Phe286=) | |
| 1 | g.77935847G>A | CA340878225 | NEXN | c.1276G>A (p.Gly426Arg) c.1084G>A (p.Gly362Arg) c.975G>A c.1234G>A (p.Gly412Arg) n.736G>A n.850G>A c.1251+2368G>A (n.1251+2368G>A) c.1042G>A (p.Gly348Arg) c.859G>A (p.Gly287Arg) | gnomAD v4 |
| 1 | g.77935847G>C | CA340878227 | NEXN | c.1276G>C (p.Gly426Arg) c.1084G>C (p.Gly362Arg) c.975G>C c.1234G>C (p.Gly412Arg) n.736G>C n.850G>C c.1251+2368G>C (n.1251+2368G>C) c.1042G>C (p.Gly348Arg) c.859G>C (p.Gly287Arg) | |
| 1 | g.77935847G>T | CA340878226 | NEXN | c.1276G>T (p.Gly426Ter) c.1084G>T (p.Gly362Ter) c.975G>T c.1234G>T (p.Gly412Ter) n.736G>T n.850G>T c.1251+2368G>T (n.1251+2368G>T) c.1042G>T (p.Gly348Ter) c.859G>T (p.Gly287Ter) | |
| 1 | g.77935848G>A | CA340878230 | NEXN | c.1277G>A (p.Gly426Glu) c.1085G>A (p.Gly362Glu) c.976G>A c.1235G>A (p.Gly412Glu) n.737G>A n.851G>A c.1251+2369G>A (n.1251+2369G>A) c.1043G>A (p.Gly348Glu) c.860G>A (p.Gly287Glu) | gnomAD v4 |
| 1 | g.77935848G>C | CA340878233 | NEXN | c.1277G>C (p.Gly426Ala) c.1085G>C (p.Gly362Ala) c.976G>C c.1235G>C (p.Gly412Ala) n.737G>C n.851G>C c.1251+2369G>C (n.1251+2369G>C) c.1043G>C (p.Gly348Ala) c.860G>C (p.Gly287Ala) | |
| 1 | g.77935848G>T | CA340878232 | NEXN | c.1277G>T (p.Gly426Val) c.1085G>T (p.Gly362Val) c.976G>T c.1235G>T (p.Gly412Val) n.737G>T n.851G>T c.1251+2369G>T (n.1251+2369G>T) c.1043G>T (p.Gly348Val) c.860G>T (p.Gly287Val) | |
| 1 | g.77935849A>C | CA418709378 | NEXN | c.1278A>C (p.Gly426=) c.1086A>C (p.Gly362=) c.977A>C c.1236A>C (p.Gly412=) n.738A>C n.852A>C c.1251+2370A>C (n.1251+2370A>C) c.1044A>C (p.Gly348=) c.861A>C (p.Gly287=) | |
| 1 | g.77935849A>G | CA418709379 | NEXN | c.1278A>G (p.Gly426=) c.1086A>G (p.Gly362=) c.977A>G c.1236A>G (p.Gly412=) n.738A>G n.852A>G c.1251+2370A>G (n.1251+2370A>G) c.1044A>G (p.Gly348=) c.861A>G (p.Gly287=) | gnomAD v4 |
| 1 | g.77935849A>T | CA418709381 | NEXN | c.1278A>T (p.Gly426=) c.1086A>T (p.Gly362=) c.977A>T c.1236A>T (p.Gly412=) n.738A>T n.852A>T c.1251+2370A>T (n.1251+2370A>T) c.1044A>T (p.Gly348=) c.861A>T (p.Gly287=) | |
| 1 | g.77935850T>A | CA340878240 | NEXN | c.1279T>A (p.Leu427Met) c.1087T>A (p.Leu363Met) c.978T>A c.1237T>A (p.Leu413Met) n.739T>A n.853T>A c.1251+2371T>A (n.1251+2371T>A) c.1045T>A (p.Leu349Met) c.862T>A (p.Leu288Met) | |
| 1 | g.77935850T>C | CA918853 | NEXN | c.1279T>C (p.Leu427=) c.1087T>C (p.Leu363=) c.978T>C c.1237T>C (p.Leu413=) n.739T>C n.853T>C c.1251+2371T>C (n.1251+2371T>C) c.1045T>C (p.Leu349=) c.862T>C (p.Leu288=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.77935850T>G | CA340878242 | NEXN | c.1279T>G (p.Leu427Val) c.1087T>G (p.Leu363Val) c.978T>G c.1237T>G (p.Leu413Val) n.739T>G n.853T>G c.1251+2371T>G (n.1251+2371T>G) c.1045T>G (p.Leu349Val) c.862T>G (p.Leu288Val) | |
| 1 | g.77935850T= | CA1177628273 | NEXN | c.1279T= (p.Leu427=) c.1087T= (p.Leu363=) c.978T= c.1237T= (p.Leu413=) n.739T= n.853T= c.1251+2371T= (n.1251+2371T=) c.1045T= (p.Leu349=) c.862T= (p.Leu288=) | |
| 1 | g.77935851T>A | CA340878258 | NEXN | c.1280T>A (p.Leu427Ter) c.1088T>A (p.Leu363Ter) c.979T>A c.1238T>A (p.Leu413Ter) n.740T>A n.854T>A c.1251+2372T>A (n.1251+2372T>A) c.1046T>A (p.Leu349Ter) c.863T>A (p.Leu288Ter) | |
| 1 | g.77935851T>C | CA340878261 | NEXN | c.1280T>C (p.Leu427Ser) c.1088T>C (p.Leu363Ser) c.979T>C c.1238T>C (p.Leu413Ser) n.740T>C n.854T>C c.1251+2372T>C (n.1251+2372T>C) c.1046T>C (p.Leu349Ser) c.863T>C (p.Leu288Ser) | |
| 1 | g.77935851T>G | CA340878264 | NEXN | c.1280T>G (p.Leu427Trp) c.1088T>G (p.Leu363Trp) c.979T>G c.1238T>G (p.Leu413Trp) n.740T>G n.854T>G c.1251+2372T>G (n.1251+2372T>G) c.1046T>G (p.Leu349Trp) c.863T>G (p.Leu288Trp) | |
| 1 | g.77935852G>A | CA418709383 | NEXN | c.1281G>A (p.Leu427=) c.1089G>A (p.Leu363=) c.980G>A c.1239G>A (p.Leu413=) n.741G>A n.855G>A c.1251+2373G>A (n.1251+2373G>A) c.1047G>A (p.Leu349=) c.864G>A (p.Leu288=) | gnomAD v4 |
| 1 | g.77935852G>C | CA340878267 | NEXN | c.1281G>C (p.Leu427Phe) c.1089G>C (p.Leu363Phe) c.980G>C c.1239G>C (p.Leu413Phe) n.741G>C n.855G>C c.1251+2373G>C (n.1251+2373G>C) c.1047G>C (p.Leu349Phe) c.864G>C (p.Leu288Phe) | |
| 1 | g.77935852G>T | CA340878276 | NEXN | c.1281G>T (p.Leu427Phe) c.1089G>T (p.Leu363Phe) c.980G>T c.1239G>T (p.Leu413Phe) n.741G>T n.855G>T c.1251+2373G>T (n.1251+2373G>T) c.1047G>T (p.Leu349Phe) c.864G>T (p.Leu288Phe) | gnomAD v4 |
| 1 | g.77935853A>C | CA340878279 | NEXN | c.1282A>C (p.Ser428Arg) c.1090A>C (p.Ser364Arg) c.981A>C c.1240A>C (p.Ser414Arg) n.742A>C n.856A>C c.1251+2374A>C (n.1251+2374A>C) c.1048A>C (p.Ser350Arg) c.865A>C (p.Ser289Arg) | |
| 1 | g.77935853A>G | CA340878284 | NEXN | c.1282A>G (p.Ser428Gly) c.1090A>G (p.Ser364Gly) c.981A>G c.1240A>G (p.Ser414Gly) n.742A>G n.856A>G c.1251+2374A>G (n.1251+2374A>G) c.1048A>G (p.Ser350Gly) c.865A>G (p.Ser289Gly) | gnomAD v4 |
| 1 | g.77935853A>T | CA340878288 | NEXN | c.1282A>T (p.Ser428Cys) c.1090A>T (p.Ser364Cys) c.981A>T c.1240A>T (p.Ser414Cys) n.742A>T n.856A>T c.1251+2374A>T (n.1251+2374A>T) c.1048A>T (p.Ser350Cys) c.865A>T (p.Ser289Cys) | |
| 1 | g.77935854G>A | CA340878292 | NEXN | c.1283G>A (p.Ser428Asn) c.1091G>A (p.Ser364Asn) c.982G>A c.1241G>A (p.Ser414Asn) n.743G>A n.857G>A c.1251+2375G>A (n.1251+2375G>A) c.1049G>A (p.Ser350Asn) c.866G>A (p.Ser289Asn) | |
| 1 | g.77935854G>C | CA340878294 | NEXN | c.1283G>C (p.Ser428Thr) c.1091G>C (p.Ser364Thr) c.982G>C c.1241G>C (p.Ser414Thr) n.743G>C n.857G>C c.1251+2375G>C (n.1251+2375G>C) c.1049G>C (p.Ser350Thr) c.866G>C (p.Ser289Thr) | |
| 1 | g.77935854G>T | CA340878295 | NEXN | c.1283G>T (p.Ser428Ile) c.1091G>T (p.Ser364Ile) c.982G>T c.1241G>T (p.Ser414Ile) n.743G>T n.857G>T c.1251+2375G>T (n.1251+2375G>T) c.1049G>T (p.Ser350Ile) c.866G>T (p.Ser289Ile) | |
| 1 | g.77935855C>A | CA340878299 | NEXN | c.1284C>A (p.Ser428Arg) c.1092C>A (p.Ser364Arg) c.983C>A c.1242C>A (p.Ser414Arg) n.744C>A n.858C>A c.1251+2376C>A (n.1251+2376C>A) c.1050C>A (p.Ser350Arg) c.867C>A (p.Ser289Arg) | |
| 1 | g.77935855C>G | CA340878298 | NEXN | c.1284C>G (p.Ser428Arg) c.1092C>G (p.Ser364Arg) c.983C>G c.1242C>G (p.Ser414Arg) n.744C>G n.858C>G c.1251+2376C>G (n.1251+2376C>G) c.1050C>G (p.Ser350Arg) c.867C>G (p.Ser289Arg) | gnomAD v4 |
| 1 | g.77935855C>T | CA418709387 | NEXN | c.1284C>T (p.Ser428=) c.1092C>T (p.Ser364=) c.983C>T c.1242C>T (p.Ser414=) n.744C>T n.858C>T c.1251+2376C>T (n.1251+2376C>T) c.1050C>T (p.Ser350=) c.867C>T (p.Ser289=) | |
| 1 | g.77935855_77935856delinsCA | CA1177628274 | NEXN | c.1284_1285delinsCA (p.Ser428=) c.1092_1093delinsCA (p.Ser364=) c.983_984delinsCA c.1242_1243delinsCA (p.Ser414=) n.744_745delinsCA n.858_859delinsCA c.1251+2376_1251+2377delinsCA (n.1251+2376_1251+2377delinsCA) c.1050_1051delinsCA (p.Ser350=) c.867_868delinsCA (p.Ser289=) | |
| 1 | g.77935856del | CA918854 | NEXN | c.1285del (p.Arg429GlufsTer6) c.1093del (p.Arg365GlufsTer6) c.984del c.1243del (p.Arg415GlufsTer6) n.745del n.859del c.1251+2377del (n.1251+2377del) c.1051del (p.Arg351GlufsTer6) c.868del (p.Arg290GlufsTer6) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.77935856A>C | CA418709390 | NEXN | c.1285A>C (p.Arg429=) c.1093A>C (p.Arg365=) c.984A>C c.1243A>C (p.Arg415=) n.745A>C n.859A>C c.1251+2377A>C (n.1251+2377A>C) c.1051A>C (p.Arg351=) c.868A>C (p.Arg290=) | |
| 1 | g.77935856A>G | CA340878300 | NEXN | c.1285A>G (p.Arg429Gly) c.1093A>G (p.Arg365Gly) c.984A>G c.1243A>G (p.Arg415Gly) n.745A>G n.859A>G c.1251+2377A>G (n.1251+2377A>G) c.1051A>G (p.Arg351Gly) c.868A>G (p.Arg290Gly) | |
| 1 | g.77935856A>T | CA340878301 | NEXN | c.1285A>T (p.Arg429Ter) c.1093A>T (p.Arg365Ter) c.984A>T c.1243A>T (p.Arg415Ter) n.745A>T n.859A>T c.1251+2377A>T (n.1251+2377A>T) c.1051A>T (p.Arg351Ter) c.868A>T (p.Arg290Ter) | |
| 1 | g.77935857G>A | CA340878306 | NEXN | c.1286G>A (p.Arg429Lys) c.1094G>A (p.Arg365Lys) c.985G>A c.1244G>A (p.Arg415Lys) n.746G>A n.860G>A c.1251+2378G>A (n.1251+2378G>A) c.1052G>A (p.Arg351Lys) c.869G>A (p.Arg290Lys) | |
| 1 | g.77935857G>C | CA340878311 | NEXN | c.1286G>C (p.Arg429Thr) c.1094G>C (p.Arg365Thr) c.985G>C c.1244G>C (p.Arg415Thr) n.746G>C n.860G>C c.1251+2378G>C (n.1251+2378G>C) c.1052G>C (p.Arg351Thr) c.869G>C (p.Arg290Thr) | gnomAD v4 |
| 1 | g.77935857G>T | CA340878315 | NEXN | c.1286G>T (p.Arg429Ile) c.1094G>T (p.Arg365Ile) c.985G>T c.1244G>T (p.Arg415Ile) n.746G>T n.860G>T c.1251+2378G>T (n.1251+2378G>T) c.1052G>T (p.Arg351Ile) c.869G>T (p.Arg290Ile) | |
| 1 | g.77935858A= | CA1177628275 | NEXN | c.1287A= (p.Arg429=) c.1095A= (p.Arg365=) c.986A= c.1245A= (p.Arg415=) n.747A= n.861A= c.1251+2379A= (n.1251+2379A=) c.1053A= (p.Arg351=) c.870A= (p.Arg290=) | |
| 1 | g.77935858A>C | CA340878319 | NEXN | c.1287A>C (p.Arg429Ser) c.1095A>C (p.Arg365Ser) c.986A>C c.1245A>C (p.Arg415Ser) n.747A>C n.861A>C c.1251+2379A>C (n.1251+2379A>C) c.1053A>C (p.Arg351Ser) c.870A>C (p.Arg290Ser) | |
| 1 | g.77935858A>G | CA418709392 | NEXN | c.1287A>G (p.Arg429=) c.1095A>G (p.Arg365=) c.986A>G c.1245A>G (p.Arg415=) n.747A>G n.861A>G c.1251+2379A>G (n.1251+2379A>G) c.1053A>G (p.Arg351=) c.870A>G (p.Arg290=) | dbSNP gnomAD v4 |
| 1 | g.77935858A>T | CA340878321 | NEXN | c.1287A>T (p.Arg429Ser) c.1095A>T (p.Arg365Ser) c.986A>T c.1245A>T (p.Arg415Ser) n.747A>T n.861A>T c.1251+2379A>T (n.1251+2379A>T) c.1053A>T (p.Arg351Ser) c.870A>T (p.Arg290Ser) | |
| 1 | g.77935859G>A | CA340878323 | NEXN | c.1288G>A (p.Glu430Lys) c.1096G>A (p.Glu366Lys) c.987G>A c.1246G>A (p.Glu416Lys) n.748G>A n.862G>A c.1251+2380G>A (n.1251+2380G>A) c.1054G>A (p.Glu352Lys) c.871G>A (p.Glu291Lys) | |
| 1 | g.77935859G>C | CA340878325 | NEXN | c.1288G>C (p.Glu430Gln) c.1096G>C (p.Glu366Gln) c.987G>C c.1246G>C (p.Glu416Gln) n.748G>C n.862G>C c.1251+2380G>C (n.1251+2380G>C) c.1054G>C (p.Glu352Gln) c.871G>C (p.Glu291Gln) | |
| 1 | g.77935859G>T | CA340878339 | NEXN | c.1288G>T (p.Glu430Ter) c.1096G>T (p.Glu366Ter) c.987G>T c.1246G>T (p.Glu416Ter) n.748G>T n.862G>T c.1251+2380G>T (n.1251+2380G>T) c.1054G>T (p.Glu352Ter) c.871G>T (p.Glu291Ter) | |
| 1 | g.77935860A= | CA1148401298 | NEXN | c.1289A= (p.Glu430=) c.1097A= (p.Glu366=) c.988A= c.1247A= (p.Glu416=) n.749A= n.863A= c.1251+2381A= (n.1251+2381A=) c.1055A= (p.Glu352=) c.872A= (p.Glu291=) | |
| 1 | g.77935860A>C | CA918855 | NEXN | c.1289A>C (p.Glu430Ala) c.1097A>C (p.Glu366Ala) c.988A>C c.1247A>C (p.Glu416Ala) n.749A>C n.863A>C c.1251+2381A>C (n.1251+2381A>C) c.1055A>C (p.Glu352Ala) c.872A>C (p.Glu291Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.77935860A>G | CA340878341 | NEXN | c.1289A>G (p.Glu430Gly) c.1097A>G (p.Glu366Gly) c.988A>G c.1247A>G (p.Glu416Gly) n.749A>G n.863A>G c.1251+2381A>G (n.1251+2381A>G) c.1055A>G (p.Glu352Gly) c.872A>G (p.Glu291Gly) | |
| 1 | g.77935860A>T | CA340878340 | NEXN | c.1289A>T (p.Glu430Val) c.1097A>T (p.Glu366Val) c.988A>T c.1247A>T (p.Glu416Val) n.749A>T n.863A>T c.1251+2381A>T (n.1251+2381A>T) c.1055A>T (p.Glu352Val) c.872A>T (p.Glu291Val) | |
| 1 | g.77935860_77935862delinsAAT | CA1177628276 | NEXN | c.1289_1291delinsAAT (p.Glu430=) c.1097_1099delinsAAT (p.Glu366=) c.988_990delinsAAT c.1247_1249delinsAAT (p.Glu416=) n.749_751delinsAAT n.863_865delinsAAT c.1251+2381_1251+2383delinsAAT (n.1251+2381_1251+2383delinsAAT) c.1055_1057delinsAAT (p.Glu352=) c.872_874delinsAAT (p.Glu291=) | |
| 1 | g.77935861A>C | CA340878344 | NEXN | c.1290A>C (p.Glu430Asp) c.1098A>C (p.Glu366Asp) c.989A>C c.1248A>C (p.Glu416Asp) n.750A>C n.864A>C c.1251+2382A>C (n.1251+2382A>C) c.1056A>C (p.Glu352Asp) c.873A>C (p.Glu291Asp) | |
| 1 | g.77935861A>G | CA418709396 | NEXN | c.1290A>G (p.Glu430=) c.1098A>G (p.Glu366=) c.989A>G c.1248A>G (p.Glu416=) n.750A>G n.864A>G c.1251+2382A>G (n.1251+2382A>G) c.1056A>G (p.Glu352=) c.873A>G (p.Glu291=) | |
| 1 | g.77935861A>T | CA340878348 | NEXN | c.1290A>T (p.Glu430Asp) c.1098A>T (p.Glu366Asp) c.989A>T c.1248A>T (p.Glu416Asp) n.750A>T n.864A>T c.1251+2382A>T (n.1251+2382A>T) c.1056A>T (p.Glu352Asp) c.873A>T (p.Glu291Asp) | |
| 1 | g.77935863_77935864del | CA524230991 | NEXN | c.1292_1293del (p.Tyr431Ter) c.1100_1101del (p.Tyr367Ter) c.991_992del c.1250_1251del (p.Tyr417Ter) n.752_753del n.866_867del c.1251+2384_1251+2385del (n.1251+2384_1251+2385del) c.1058_1059del (p.Tyr353Ter) c.875_876del (p.Tyr292Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.77935862T>A | CA340878350 | NEXN | c.1291T>A (p.Tyr431Asn) c.1099T>A (p.Tyr367Asn) c.990T>A c.1249T>A (p.Tyr417Asn) n.751T>A n.865T>A c.1251+2383T>A (n.1251+2383T>A) c.1057T>A (p.Tyr353Asn) c.874T>A (p.Tyr292Asn) | |
| 1 | g.77935862T>C | CA340878354 | NEXN | c.1291T>C (p.Tyr431His) c.1099T>C (p.Tyr367His) c.990T>C c.1249T>C (p.Tyr417His) n.751T>C n.865T>C c.1251+2383T>C (n.1251+2383T>C) c.1057T>C (p.Tyr353His) c.874T>C (p.Tyr292His) | dbSNP gnomAD v2 |
| 1 | g.77935862T>G | CA340878368 | NEXN | c.1291T>G (p.Tyr431Asp) c.1099T>G (p.Tyr367Asp) c.990T>G c.1249T>G (p.Tyr417Asp) n.751T>G n.865T>G c.1251+2383T>G (n.1251+2383T>G) c.1057T>G (p.Tyr353Asp) c.874T>G (p.Tyr292Asp) | |
| 1 | g.77935862T= | CA1177628277 | NEXN | c.1291T= (p.Tyr431=) c.1099T= (p.Tyr367=) c.990T= c.1249T= (p.Tyr417=) n.751T= n.865T= c.1251+2383T= (n.1251+2383T=) c.1057T= (p.Tyr353=) c.874T= (p.Tyr292=) | |
| 1 | g.77935863A= | CA1177628278 | NEXN | c.1292A= (p.Tyr431=) c.1100A= (p.Tyr367=) c.991A= c.1250A= (p.Tyr417=) n.752A= n.866A= c.1251+2384A= (n.1251+2384A=) c.1058A= (p.Tyr353=) c.875A= (p.Tyr292=) | |
| 1 | g.77935863A>C | CA340878375 | NEXN | c.1292A>C (p.Tyr431Ser) c.1100A>C (p.Tyr367Ser) c.991A>C c.1250A>C (p.Tyr417Ser) n.752A>C n.866A>C c.1251+2384A>C (n.1251+2384A>C) c.1058A>C (p.Tyr353Ser) c.875A>C (p.Tyr292Ser) | |
| 1 | g.77935863A>G | CA24686400 | NEXN | c.1292A>G (p.Tyr431Cys) c.1100A>G (p.Tyr367Cys) c.991A>G c.1250A>G (p.Tyr417Cys) n.752A>G n.866A>G c.1251+2384A>G (n.1251+2384A>G) c.1058A>G (p.Tyr353Cys) c.875A>G (p.Tyr292Cys) | dbSNP gnomAD v4 |
| 1 | g.77935863A>T | CA340878379 | NEXN | c.1292A>T (p.Tyr431Phe) c.1100A>T (p.Tyr367Phe) c.991A>T c.1250A>T (p.Tyr417Phe) n.752A>T n.866A>T c.1251+2384A>T (n.1251+2384A>T) c.1058A>T (p.Tyr353Phe) c.875A>T (p.Tyr292Phe) | |
| 1 | g.77935864T>A | CA340878397 | NEXN | c.1293T>A (p.Tyr431Ter) c.1101T>A (p.Tyr367Ter) c.992T>A c.1251T>A (p.Tyr417Ter) n.753T>A n.867T>A c.1251+2385T>A (n.1251+2385T>A) c.1059T>A (p.Tyr353Ter) c.876T>A (p.Tyr292Ter) | gnomAD v4 |
| 1 | g.77935864T>C | CA418709399 | NEXN | c.1293T>C (p.Tyr431=) c.1101T>C (p.Tyr367=) c.992T>C c.1251T>C (p.Tyr417=) n.753T>C n.867T>C c.1251+2385T>C (n.1251+2385T>C) c.1059T>C (p.Tyr353=) c.876T>C (p.Tyr292=) | dbSNP gnomAD v4 |
| 1 | g.77935864T>G | CA340878398 | NEXN | c.1293T>G (p.Tyr431Ter) c.1101T>G (p.Tyr367Ter) c.992T>G c.1251T>G (p.Tyr417Ter) n.753T>G n.867T>G c.1251+2385T>G (n.1251+2385T>G) c.1059T>G (p.Tyr353Ter) c.876T>G (p.Tyr292Ter) | |
| 1 | g.77935864T= | CA1177628279 | NEXN | c.1293T= (p.Tyr431=) c.1101T= (p.Tyr367=) c.992T= c.1251T= (p.Tyr417=) n.753T= n.867T= c.1251+2385T= (n.1251+2385T=) c.1059T= (p.Tyr353=) c.876T= (p.Tyr292=) | |
| 1 | g.77935865G>A | CA918856 | NEXN | c.1294G>A (p.Glu432Lys) c.1102G>A (p.Glu368Lys) c.993G>A c.1252G>A (p.Glu418Lys) n.754G>A n.868G>A c.1251+2386G>A (n.1251+2386G>A) c.1060G>A (p.Glu354Lys) c.877G>A (p.Glu293Lys) | dbSNP ExAC gnomAD v2 COSMIC COSMIC |
| 1 | g.77935865G>C | CA340878400 | NEXN | c.1294G>C (p.Glu432Gln) c.1102G>C (p.Glu368Gln) c.993G>C c.1252G>C (p.Glu418Gln) n.754G>C n.868G>C c.1251+2386G>C (n.1251+2386G>C) c.1060G>C (p.Glu354Gln) c.877G>C (p.Glu293Gln) | |
| 1 | g.77935865G= | CA1177628280 | NEXN | c.1294G= (p.Glu432=) c.1102G= (p.Glu368=) c.993G= c.1252G= (p.Glu418=) n.754G= n.868G= c.1251+2386G= (n.1251+2386G=) c.1060G= (p.Glu354=) c.877G= (p.Glu293=) | |
| 1 | g.77935865G>T | CA340878403 | NEXN | c.1294G>T (p.Glu432Ter) c.1102G>T (p.Glu368Ter) c.993G>T c.1252G>T (p.Glu418Ter) n.754G>T n.868G>T c.1251+2386G>T (n.1251+2386G>T) c.1060G>T (p.Glu354Ter) c.877G>T (p.Glu293Ter) | |
| 1 | g.77935866A>C | CA340878424 | NEXN | c.1295A>C (p.Glu432Ala) c.1103A>C (p.Glu368Ala) c.994A>C c.1253A>C (p.Glu418Ala) n.755A>C n.869A>C c.1251+2387A>C (n.1251+2387A>C) c.1061A>C (p.Glu354Ala) c.878A>C (p.Glu293Ala) | |
| 1 | g.77935866A>G | CA340878410 | NEXN | c.1295A>G (p.Glu432Gly) c.1103A>G (p.Glu368Gly) c.994A>G c.1253A>G (p.Glu418Gly) n.755A>G n.869A>G c.1251+2387A>G (n.1251+2387A>G) c.1061A>G (p.Glu354Gly) c.878A>G (p.Glu293Gly) | |
| 1 | g.77935866A>T | CA340878406 | NEXN | c.1295A>T (p.Glu432Val) c.1103A>T (p.Glu368Val) c.994A>T c.1253A>T (p.Glu418Val) n.755A>T n.869A>T c.1251+2387A>T (n.1251+2387A>T) c.1061A>T (p.Glu354Val) c.878A>T (p.Glu293Val) | |
| 1 | g.77935867A>C | CA340878427 | NEXN | c.1296A>C (p.Glu432Asp) c.1104A>C (p.Glu368Asp) c.995A>C c.1254A>C (p.Glu418Asp) n.756A>C n.870A>C c.1251+2388A>C (n.1251+2388A>C) c.1062A>C (p.Glu354Asp) c.879A>C (p.Glu293Asp) | |
| 1 | g.77935867A>G | CA418709406 | NEXN | c.1296A>G (p.Glu432=) c.1104A>G (p.Glu368=) c.995A>G c.1254A>G (p.Glu418=) n.756A>G n.870A>G c.1251+2388A>G (n.1251+2388A>G) c.1062A>G (p.Glu354=) c.879A>G (p.Glu293=) | |
| 1 | g.77935867A>T | CA340878431 | NEXN | c.1296A>T (p.Glu432Asp) c.1104A>T (p.Glu368Asp) c.995A>T c.1254A>T (p.Glu418Asp) n.756A>T n.870A>T c.1251+2388A>T (n.1251+2388A>T) c.1062A>T (p.Glu354Asp) c.879A>T (p.Glu293Asp) | |
| 1 | g.77935868del | CA2646274713 | NEXN | c.1297del (p.Glu433AsnfsTer2) c.1105del (p.Glu369AsnfsTer2) c.996del c.1255del (p.Glu419AsnfsTer2) n.757del n.871del c.1251+2389del (n.1251+2389del) c.1063del (p.Glu355AsnfsTer2) c.880del (p.Glu294AsnfsTer2) | gnomAD v4 |
| 1 | g.77935868G>A | CA340878434 | NEXN | c.1297G>A (p.Glu433Lys) c.1105G>A (p.Glu369Lys) c.996G>A c.1255G>A (p.Glu419Lys) n.757G>A n.871G>A c.1251+2389G>A (n.1251+2389G>A) c.1063G>A (p.Glu355Lys) c.880G>A (p.Glu294Lys) | |
| 1 | g.77935868G>C | CA340878435 | NEXN | c.1297G>C (p.Glu433Gln) c.1105G>C (p.Glu369Gln) c.996G>C c.1255G>C (p.Glu419Gln) n.757G>C n.871G>C c.1251+2389G>C (n.1251+2389G>C) c.1063G>C (p.Glu355Gln) c.880G>C (p.Glu294Gln) | |
| 1 | g.77935868G= | CA1177628281 | NEXN | c.1297G= (p.Glu433=) c.1105G= (p.Glu369=) c.996G= c.1255G= (p.Glu419=) n.757G= n.871G= c.1251+2389G= (n.1251+2389G=) c.1063G= (p.Glu355=) c.880G= (p.Glu294=) | |
| 1 | g.77935868G>T | CA340878437 | NEXN | c.1297G>T (p.Glu433Ter) c.1105G>T (p.Glu369Ter) c.996G>T c.1255G>T (p.Glu419Ter) n.757G>T n.871G>T c.1251+2389G>T (n.1251+2389G>T) c.1063G>T (p.Glu355Ter) c.880G>T (p.Glu294Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.77935869A>C | CA340878439 | NEXN | c.1298A>C (p.Glu433Ala) c.1106A>C (p.Glu369Ala) c.997A>C c.1256A>C (p.Glu419Ala) n.758A>C n.872A>C c.1251+2390A>C (n.1251+2390A>C) c.1064A>C (p.Glu355Ala) c.881A>C (p.Glu294Ala) | |
| 1 | g.77935869A>G | CA340878442 | NEXN | c.1298A>G (p.Glu433Gly) c.1106A>G (p.Glu369Gly) c.997A>G c.1256A>G (p.Glu419Gly) n.758A>G n.872A>G c.1251+2390A>G (n.1251+2390A>G) c.1064A>G (p.Glu355Gly) c.881A>G (p.Glu294Gly) | |
| 1 | g.77935869A>T | CA340878444 | NEXN | c.1298A>T (p.Glu433Val) c.1106A>T (p.Glu369Val) c.997A>T c.1256A>T (p.Glu419Val) n.758A>T n.872A>T c.1251+2390A>T (n.1251+2390A>T) c.1064A>T (p.Glu355Val) c.881A>T (p.Glu294Val) | |
| 1 | g.77935870A>C | CA340878446 | NEXN | c.1299A>C (p.Glu433Asp) c.1107A>C (p.Glu369Asp) c.998A>C c.1257A>C (p.Glu419Asp) n.759A>C n.873A>C c.1251+2391A>C (n.1251+2391A>C) c.1065A>C (p.Glu355Asp) c.882A>C (p.Glu294Asp) | |
| 1 | g.77935870A>G | CA418709408 | NEXN | c.1299A>G (p.Glu433=) c.1107A>G (p.Glu369=) c.998A>G c.1257A>G (p.Glu419=) n.759A>G n.873A>G c.1251+2391A>G (n.1251+2391A>G) c.1065A>G (p.Glu355=) c.882A>G (p.Glu294=) | |
| 1 | g.77935870A>T | CA340878454 | NEXN | c.1299A>T (p.Glu433Asp) c.1107A>T (p.Glu369Asp) c.998A>T c.1257A>T (p.Glu419Asp) n.759A>T n.873A>T c.1251+2391A>T (n.1251+2391A>T) c.1065A>T (p.Glu355Asp) c.882A>T (p.Glu294Asp) | |
| 1 | g.77935871C>A | CA340878457 | NEXN | c.1300C>A (p.Leu434Met) c.1108C>A (p.Leu370Met) c.999C>A c.1258C>A (p.Leu420Met) n.760C>A n.874C>A c.1251+2392C>A (n.1251+2392C>A) c.1066C>A (p.Leu356Met) c.883C>A (p.Leu295Met) | |
| 1 | g.77935871C>G | CA340878459 | NEXN | c.1300C>G (p.Leu434Val) c.1108C>G (p.Leu370Val) c.999C>G c.1258C>G (p.Leu420Val) n.760C>G n.874C>G c.1251+2392C>G (n.1251+2392C>G) c.1066C>G (p.Leu356Val) c.883C>G (p.Leu295Val) | |
| 1 | g.77935871C>T | CA418709410 | NEXN | c.1300C>T (p.Leu434=) c.1108C>T (p.Leu370=) c.999C>T c.1258C>T (p.Leu420=) n.760C>T n.874C>T c.1251+2392C>T (n.1251+2392C>T) c.1066C>T (p.Leu356=) c.883C>T (p.Leu295=) | gnomAD v4 |
| 1 | g.77935872T>A | CA340878463 | NEXN | c.1301T>A (p.Leu434Gln) c.1109T>A (p.Leu370Gln) c.1000T>A c.1259T>A (p.Leu420Gln) n.761T>A n.875T>A c.1251+2393T>A (n.1251+2393T>A) c.1067T>A (p.Leu356Gln) c.884T>A (p.Leu295Gln) | |
| 1 | g.77935872T>C | CA340878462 | NEXN | c.1301T>C (p.Leu434Pro) c.1109T>C (p.Leu370Pro) c.1000T>C c.1259T>C (p.Leu420Pro) n.761T>C n.875T>C c.1251+2393T>C (n.1251+2393T>C) c.1067T>C (p.Leu356Pro) c.884T>C (p.Leu295Pro) | |
| 1 | g.77935872T>G | CA918858 | NEXN | c.1301T>G (p.Leu434Arg) c.1109T>G (p.Leu370Arg) c.1000T>G c.1259T>G (p.Leu420Arg) n.761T>G n.875T>G c.1251+2393T>G (n.1251+2393T>G) c.1067T>G (p.Leu356Arg) c.884T>G (p.Leu295Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.77935872T= | CA1177628282 | NEXN | c.1301T= (p.Leu434=) c.1109T= (p.Leu370=) c.1000T= c.1259T= (p.Leu420=) n.761T= n.875T= c.1251+2393T= (n.1251+2393T=) c.1067T= (p.Leu356=) c.884T= (p.Leu295=) | |
| 1 | g.77935872_77935873delinsTG | CA1177628283 | NEXN | c.1301_1302delinsTG (p.Leu434=) c.1109_1110delinsTG (p.Leu370=) c.1000_1001delinsTG c.1259_1260delinsTG (p.Leu420=) n.761_762delinsTG n.875_876delinsTG c.1251+2393_1251+2394delinsTG (n.1251+2393_1251+2394delinsTG) c.1067_1068delinsTG (p.Leu356=) c.884_885delinsTG (p.Leu295=) | |
| 1 | g.77935873del | CA918857 | NEXN | c.1302del (p.Ile435SerfsTer3) c.1110del (p.Ile371SerfsTer3) c.1001del c.1260del (p.Ile421SerfsTer3) n.762del n.876del c.1251+2394del (n.1251+2394del) c.1068del (p.Ile357SerfsTer3) c.885del (p.Ile296SerfsTer3) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.77935873G>A | CA418709346 | NEXN | c.1302G>A (p.Leu434=) c.1110G>A (p.Leu370=) c.1001G>A c.1260G>A (p.Leu420=) n.762G>A n.876G>A c.1251+2394G>A (n.1251+2394G>A) c.1068G>A (p.Leu356=) c.885G>A (p.Leu295=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.77935873G>C | CA418709347 | NEXN | c.1302G>C (p.Leu434=) c.1110G>C (p.Leu370=) c.1001G>C c.1260G>C (p.Leu420=) n.762G>C n.876G>C c.1251+2394G>C (n.1251+2394G>C) c.1068G>C (p.Leu356=) c.885G>C (p.Leu295=) | |
| 1 | g.77935873G= | CA1148570758 | NEXN | c.1302G= (p.Leu434=) c.1110G= (p.Leu370=) c.1001G= c.1260G= (p.Leu420=) n.762G= n.876G= c.1251+2394G= (n.1251+2394G=) c.1068G= (p.Leu356=) c.885G= (p.Leu295=) | |
| 1 | g.77935873G>T | CA418709348 | NEXN | c.1302G>T (p.Leu434=) c.1110G>T (p.Leu370=) c.1001G>T c.1260G>T (p.Leu420=) n.762G>T n.876G>T c.1251+2394G>T (n.1251+2394G>T) c.1068G>T (p.Leu356=) c.885G>T (p.Leu295=) | gnomAD v4 |
| 1 | g.77935874A>C | CA340878474 | NEXN | c.1303A>C (p.Ile435Leu) c.1111A>C (p.Ile371Leu) c.1002A>C c.1261A>C (p.Ile421Leu) n.763A>C n.877A>C c.1251+2395A>C (n.1251+2395A>C) c.1069A>C (p.Ile357Leu) c.886A>C (p.Ile296Leu) | |
| 1 | g.77935874A>G | CA340878465 | NEXN | c.1303A>G (p.Ile435Val) c.1111A>G (p.Ile371Val) c.1002A>G c.1261A>G (p.Ile421Val) n.763A>G n.877A>G c.1251+2395A>G (n.1251+2395A>G) c.1069A>G (p.Ile357Val) c.886A>G (p.Ile296Val) | |
| 1 | g.77935874A>T | CA340878468 | NEXN | c.1303A>T (p.Ile435Phe) c.1111A>T (p.Ile371Phe) c.1002A>T c.1261A>T (p.Ile421Phe) n.763A>T n.877A>T c.1251+2395A>T (n.1251+2395A>T) c.1069A>T (p.Ile357Phe) c.886A>T (p.Ile296Phe) | |
| 1 | g.77935875T>A | CA340878478 | NEXN | c.1304T>A (p.Ile435Asn) c.1112T>A (p.Ile371Asn) c.1003T>A c.1262T>A (p.Ile421Asn) n.764T>A n.878T>A c.1251+2396T>A (n.1251+2396T>A) c.1070T>A (p.Ile357Asn) c.887T>A (p.Ile296Asn) | |
| 1 | g.77935875T>C | CA340878480 | NEXN | c.1304T>C (p.Ile435Thr) c.1112T>C (p.Ile371Thr) c.1003T>C c.1262T>C (p.Ile421Thr) n.764T>C n.878T>C c.1251+2396T>C (n.1251+2396T>C) c.1070T>C (p.Ile357Thr) c.887T>C (p.Ile296Thr) | dbSNP |
| 1 | g.77935875T>G | CA340878483 | NEXN | c.1304T>G (p.Ile435Ser) c.1112T>G (p.Ile371Ser) c.1003T>G c.1262T>G (p.Ile421Ser) n.764T>G n.878T>G c.1251+2396T>G (n.1251+2396T>G) c.1070T>G (p.Ile357Ser) c.887T>G (p.Ile296Ser) | |
| 1 | g.77935875T= | CA1177628284 | NEXN | c.1304T= (p.Ile435=) c.1112T= (p.Ile371=) c.1003T= c.1262T= (p.Ile421=) n.764T= n.878T= c.1251+2396T= (n.1251+2396T=) c.1070T= (p.Ile357=) c.887T= (p.Ile296=) | |
| 1 | g.77935876C>A | CA418709349 | NEXN | c.1305C>A (p.Ile435=) c.1113C>A (p.Ile371=) c.1004C>A c.1263C>A (p.Ile421=) n.765C>A n.879C>A c.1251+2397C>A (n.1251+2397C>A) c.1071C>A (p.Ile357=) c.888C>A (p.Ile296=) | gnomAD v3 gnomAD v4 |
| 1 | g.77935876C= | CA1177628285 | NEXN | c.1305C= (p.Ile435=) c.1113C= (p.Ile371=) c.1004C= c.1263C= (p.Ile421=) n.765C= n.879C= c.1251+2397C= (n.1251+2397C=) c.1071C= (p.Ile357=) c.888C= (p.Ile296=) | |
| 1 | g.77935876C>G | CA340878486 | NEXN | c.1305C>G (p.Ile435Met) c.1113C>G (p.Ile371Met) c.1004C>G c.1263C>G (p.Ile421Met) n.765C>G n.879C>G c.1251+2397C>G (n.1251+2397C>G) c.1071C>G (p.Ile357Met) c.888C>G (p.Ile296Met) | gnomAD v4 COSMIC COSMIC |
| 1 | g.77935876C>T | CA418709350 | NEXN | c.1305C>T (p.Ile435=) c.1113C>T (p.Ile371=) c.1004C>T c.1263C>T (p.Ile421=) n.765C>T n.879C>T c.1251+2397C>T (n.1251+2397C>T) c.1071C>T (p.Ile357=) c.888C>T (p.Ile296=) | dbSNP gnomAD v4 |
| 1 | g.77935877A>C | CA340878489 | NEXN | c.1306A>C (p.Lys436Gln) c.1114A>C (p.Lys372Gln) c.1005A>C c.1264A>C (p.Lys422Gln) n.766A>C n.880A>C c.1251+2398A>C (n.1251+2398A>C) c.1072A>C (p.Lys358Gln) c.889A>C (p.Lys297Gln) | |
| 1 | g.77935877A>G | CA340878494 | NEXN | c.1306A>G (p.Lys436Glu) c.1114A>G (p.Lys372Glu) c.1005A>G c.1264A>G (p.Lys422Glu) n.766A>G n.880A>G c.1251+2398A>G (n.1251+2398A>G) c.1072A>G (p.Lys358Glu) c.889A>G (p.Lys297Glu) | |
| 1 | g.77935877A>T | CA340878498 | NEXN | c.1306A>T (p.Lys436Ter) c.1114A>T (p.Lys372Ter) c.1005A>T c.1264A>T (p.Lys422Ter) n.766A>T n.880A>T c.1251+2398A>T (n.1251+2398A>T) c.1072A>T (p.Lys358Ter) c.889A>T (p.Lys297Ter) | |
| 1 | g.77935878A>C | CA340878509 | NEXN | c.1307A>C (p.Lys436Thr) c.1115A>C (p.Lys372Thr) c.1006A>C c.1265A>C (p.Lys422Thr) n.767A>C n.881A>C c.1251+2399A>C (n.1251+2399A>C) c.1073A>C (p.Lys358Thr) c.890A>C (p.Lys297Thr) | |
| 1 | g.77935878A>G | CA340878512 | NEXN | c.1307A>G (p.Lys436Arg) c.1115A>G (p.Lys372Arg) c.1006A>G c.1265A>G (p.Lys422Arg) n.767A>G n.881A>G c.1251+2399A>G (n.1251+2399A>G) c.1073A>G (p.Lys358Arg) c.890A>G (p.Lys297Arg) | |
| 1 | g.77935878A>T | CA340878513 | NEXN | c.1307A>T (p.Lys436Ile) c.1115A>T (p.Lys372Ile) c.1006A>T c.1265A>T (p.Lys422Ile) n.767A>T n.881A>T c.1251+2399A>T (n.1251+2399A>T) c.1073A>T (p.Lys358Ile) c.890A>T (p.Lys297Ile) | gnomAD v4 |
| 1 | g.77935879A>C | CA340878515 | NEXN | c.1308A>C (p.Lys436Asn) c.1116A>C (p.Lys372Asn) c.1007A>C c.1266A>C (p.Lys422Asn) n.768A>C n.882A>C c.1251+2400A>C (n.1251+2400A>C) c.1074A>C (p.Lys358Asn) c.891A>C (p.Lys297Asn) | |
| 1 | g.77935879A>G | CA418709351 | NEXN | c.1308A>G (p.Lys436=) c.1116A>G (p.Lys372=) c.1007A>G c.1266A>G (p.Lys422=) n.768A>G n.882A>G c.1251+2400A>G (n.1251+2400A>G) c.1074A>G (p.Lys358=) c.891A>G (p.Lys297=) | |
| 1 | g.77935879A>T | CA340878514 | NEXN | c.1308A>T (p.Lys436Asn) c.1116A>T (p.Lys372Asn) c.1007A>T c.1266A>T (p.Lys422Asn) n.768A>T n.882A>T c.1251+2400A>T (n.1251+2400A>T) c.1074A>T (p.Lys358Asn) c.891A>T (p.Lys297Asn) | |
| 1 | g.77935880T>A | CA340878519 | NEXN | c.1309T>A (p.Leu437Ile) c.1117T>A (p.Leu373Ile) c.1008T>A c.1267T>A (p.Leu423Ile) n.769T>A n.883T>A c.1251+2401T>A (n.1251+2401T>A) c.1075T>A (p.Leu359Ile) c.892T>A (p.Leu298Ile) | |
| 1 | g.77935880T>C | CA418709352 | NEXN | c.1309T>C (p.Leu437=) c.1117T>C (p.Leu373=) c.1008T>C c.1267T>C (p.Leu423=) n.769T>C n.883T>C c.1251+2401T>C (n.1251+2401T>C) c.1075T>C (p.Leu359=) c.892T>C (p.Leu298=) | |
| 1 | g.77935880T>G | CA340878522 | NEXN | c.1309T>G (p.Leu437Val) c.1117T>G (p.Leu373Val) c.1008T>G c.1267T>G (p.Leu423Val) n.769T>G n.883T>G c.1251+2401T>G (n.1251+2401T>G) c.1075T>G (p.Leu359Val) c.892T>G (p.Leu298Val) | |
| 1 | g.77935881T>A | CA340878527 | NEXN | c.1310T>A (p.Leu437Ter) c.1118T>A (p.Leu373Ter) c.1009T>A c.1268T>A (p.Leu423Ter) n.770T>A n.884T>A c.1251+2402T>A (n.1251+2402T>A) c.1076T>A (p.Leu359Ter) c.893T>A (p.Leu298Ter) | |
| 1 | g.77935881T>C | CA340878531 | NEXN | c.1310T>C (p.Leu437Ser) c.1118T>C (p.Leu373Ser) c.1009T>C c.1268T>C (p.Leu423Ser) n.770T>C n.884T>C c.1251+2402T>C (n.1251+2402T>C) c.1076T>C (p.Leu359Ser) c.893T>C (p.Leu298Ser) | |
| 1 | g.77935881T>G | CA340878534 | NEXN | c.1310T>G (p.Leu437Ter) c.1118T>G (p.Leu373Ter) c.1009T>G c.1268T>G (p.Leu423Ter) n.770T>G n.884T>G c.1251+2402T>G (n.1251+2402T>G) c.1076T>G (p.Leu359Ter) c.893T>G (p.Leu298Ter) | |
| 1 | g.77935882A>C | CA340878538 | NEXN | c.1311A>C (p.Leu437Phe) c.1119A>C (p.Leu373Phe) c.1010A>C c.1269A>C (p.Leu423Phe) n.771A>C n.885A>C c.1251+2403A>C (n.1251+2403A>C) c.1077A>C (p.Leu359Phe) c.894A>C (p.Leu298Phe) | |
| 1 | g.77935882A>G | CA418709353 | NEXN | c.1311A>G (p.Leu437=) c.1119A>G (p.Leu373=) c.1010A>G c.1269A>G (p.Leu423=) n.771A>G n.885A>G c.1251+2403A>G (n.1251+2403A>G) c.1077A>G (p.Leu359=) c.894A>G (p.Leu298=) | |
| 1 | g.77935882A>T | CA340878543 | NEXN | c.1311A>T (p.Leu437Phe) c.1119A>T (p.Leu373Phe) c.1010A>T c.1269A>T (p.Leu423Phe) n.771A>T n.885A>T c.1251+2403A>T (n.1251+2403A>T) c.1077A>T (p.Leu359Phe) c.894A>T (p.Leu298Phe) | |
| 1 | g.77935883A>C | CA340878549 | NEXN | c.1312A>C (p.Lys438Gln) c.1120A>C (p.Lys374Gln) c.1011A>C c.1270A>C (p.Lys424Gln) n.772A>C n.886A>C c.1251+2404A>C (n.1251+2404A>C) c.1078A>C (p.Lys360Gln) c.895A>C (p.Lys299Gln) | |
| 1 | g.77935883A>G | CA340878560 | NEXN | c.1312A>G (p.Lys438Glu) c.1120A>G (p.Lys374Glu) c.1011A>G c.1270A>G (p.Lys424Glu) n.772A>G n.886A>G c.1251+2404A>G (n.1251+2404A>G) c.1078A>G (p.Lys360Glu) c.895A>G (p.Lys299Glu) | |
| 1 | g.77935883A>T | CA340878562 | NEXN | c.1312A>T (p.Lys438Ter) c.1120A>T (p.Lys374Ter) c.1011A>T c.1270A>T (p.Lys424Ter) n.772A>T n.886A>T c.1251+2404A>T (n.1251+2404A>T) c.1078A>T (p.Lys360Ter) c.895A>T (p.Lys299Ter) | |
| 1 | g.77935884A>C | CA340878575 | NEXN | c.1313A>C (p.Lys438Thr) c.1121A>C (p.Lys374Thr) c.1012A>C c.1271A>C (p.Lys424Thr) n.773A>C n.887A>C c.1251+2405A>C (n.1251+2405A>C) c.1079A>C (p.Lys360Thr) c.896A>C (p.Lys299Thr) | |
| 1 | g.77935884A>G | CA340878588 | NEXN | c.1313A>G (p.Lys438Arg) c.1121A>G (p.Lys374Arg) c.1012A>G c.1271A>G (p.Lys424Arg) n.773A>G n.887A>G c.1251+2405A>G (n.1251+2405A>G) c.1079A>G (p.Lys360Arg) c.896A>G (p.Lys299Arg) | gnomAD v4 |
| 1 | g.77935884A>T | CA340878590 | NEXN | c.1313A>T (p.Lys438Ile) c.1121A>T (p.Lys374Ile) c.1012A>T c.1271A>T (p.Lys424Ile) n.773A>T n.887A>T c.1251+2405A>T (n.1251+2405A>T) c.1079A>T (p.Lys360Ile) c.896A>T (p.Lys299Ile) | |
| 1 | g.77935885A>C | CA340878595 | NEXN | c.1314A>C (p.Lys438Asn) c.1122A>C (p.Lys374Asn) c.1013A>C c.1272A>C (p.Lys424Asn) n.774A>C n.888A>C c.1251+2406A>C (n.1251+2406A>C) c.1080A>C (p.Lys360Asn) c.897A>C (p.Lys299Asn) | |
| 1 | g.77935885A>G | CA418709355 | NEXN | c.1314A>G (p.Lys438=) c.1122A>G (p.Lys374=) c.1013A>G c.1272A>G (p.Lys424=) n.774A>G n.888A>G c.1251+2406A>G (n.1251+2406A>G) c.1080A>G (p.Lys360=) c.897A>G (p.Lys299=) | |
| 1 | g.77935885A>T | CA340878594 | NEXN | c.1314A>T (p.Lys438Asn) c.1122A>T (p.Lys374Asn) c.1013A>T c.1272A>T (p.Lys424Asn) n.774A>T n.888A>T c.1251+2406A>T (n.1251+2406A>T) c.1080A>T (p.Lys360Asn) c.897A>T (p.Lys299Asn) | |
| 1 | g.77935886A>C | CA418709356 | NEXN | c.1315A>C (p.Arg439=) c.1123A>C (p.Arg375=) c.1014A>C c.1273A>C (p.Arg425=) n.775A>C n.889A>C c.1251+2407A>C (n.1251+2407A>C) c.1081A>C (p.Arg361=) c.898A>C (p.Arg300=) | |
| 1 | g.77935886A>G | CA340878596 | NEXN | c.1315A>G (p.Arg439Gly) c.1123A>G (p.Arg375Gly) c.1014A>G c.1273A>G (p.Arg425Gly) n.775A>G n.889A>G c.1251+2407A>G (n.1251+2407A>G) c.1081A>G (p.Arg361Gly) c.898A>G (p.Arg300Gly) | |
| 1 | g.77935886A>T | CA340878597 | NEXN | c.1315A>T (p.Arg439Trp) c.1123A>T (p.Arg375Trp) c.1014A>T c.1273A>T (p.Arg425Trp) n.775A>T n.889A>T c.1251+2407A>T (n.1251+2407A>T) c.1081A>T (p.Arg361Trp) c.898A>T (p.Arg300Trp) | |
| 1 | g.77935887G>A | CA918859 | NEXN | c.1316G>A (p.Arg439Lys) c.1124G>A (p.Arg375Lys) c.1015G>A c.1274G>A (p.Arg425Lys) n.776G>A n.890G>A c.1251+2408G>A (n.1251+2408G>A) c.1082G>A (p.Arg361Lys) c.899G>A (p.Arg300Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.77935887G>C | CA340878598 | NEXN | c.1316G>C (p.Arg439Thr) c.1124G>C (p.Arg375Thr) c.1015G>C c.1274G>C (p.Arg425Thr) n.776G>C n.890G>C c.1251+2408G>C (n.1251+2408G>C) c.1082G>C (p.Arg361Thr) c.899G>C (p.Arg300Thr) | |
| 1 | g.77935887G= | CA1143388511 | NEXN | c.1316G= (p.Arg439=) c.1124G= (p.Arg375=) c.1015G= c.1274G= (p.Arg425=) n.776G= n.890G= c.1251+2408G= (n.1251+2408G=) c.1082G= (p.Arg361=) c.899G= (p.Arg300=) | |
| 1 | g.77935887G>T | CA340878602 | NEXN | c.1316G>T (p.Arg439Met) c.1124G>T (p.Arg375Met) c.1015G>T c.1274G>T (p.Arg425Met) n.776G>T n.890G>T c.1251+2408G>T (n.1251+2408G>T) c.1082G>T (p.Arg361Met) c.899G>T (p.Arg300Met) | COSMIC COSMIC |
| 1 | g.77935888G>A | CA418709357 | NEXN | c.1317G>A (p.Arg439=) c.1125G>A (p.Arg375=) c.1016G>A c.1275G>A (p.Arg425=) n.777G>A n.891G>A c.1251+2409G>A (n.1251+2409G>A) c.1083G>A (p.Arg361=) c.900G>A (p.Arg300=) | gnomAD v4 |
| 1 | g.77935888G>C | CA340878606 | NEXN | c.1317G>C (p.Arg439Ser) c.1125G>C (p.Arg375Ser) c.1016G>C c.1275G>C (p.Arg425Ser) n.777G>C n.891G>C c.1251+2409G>C (n.1251+2409G>C) c.1083G>C (p.Arg361Ser) c.900G>C (p.Arg300Ser) | |
| 1 | g.77935888G>T | CA340878607 | NEXN | c.1317G>T (p.Arg439Ser) c.1125G>T (p.Arg375Ser) c.1016G>T c.1275G>T (p.Arg425Ser) n.777G>T n.891G>T c.1251+2409G>T (n.1251+2409G>T) c.1083G>T (p.Arg361Ser) c.900G>T (p.Arg300Ser) | |
| 1 | g.77935889_77935892dup | CA2646274714 | NEXN | c.1318_1321dup (p.Gly441GlufsTer7) c.1126_1129dup (p.Gly377GlufsTer7) c.1017_1020dup c.1276_1279dup (p.Gly427GlufsTer7) n.778_781dup n.892_895dup c.1251+2410_1251+2413dup (n.1251+2410_1251+2413dup) c.1084_1087dup (p.Gly363GlufsTer7) c.901_904dup (p.Gly302GlufsTer7) | gnomAD v4 |
| 1 | g.77935889A>C | CA340878610 | NEXN | c.1318A>C (p.Ser440Arg) c.1126A>C (p.Ser376Arg) c.1017A>C c.1276A>C (p.Ser426Arg) n.778A>C n.892A>C c.1251+2410A>C (n.1251+2410A>C) c.1084A>C (p.Ser362Arg) c.901A>C (p.Ser301Arg) | |
| 1 | g.77935889A>G | CA340878611 | NEXN | c.1318A>G (p.Ser440Gly) c.1126A>G (p.Ser376Gly) c.1017A>G c.1276A>G (p.Ser426Gly) n.778A>G n.892A>G c.1251+2410A>G (n.1251+2410A>G) c.1084A>G (p.Ser362Gly) c.901A>G (p.Ser301Gly) | |
| 1 | g.77935889A>T | CA340878616 | NEXN | c.1318A>T (p.Ser440Cys) c.1126A>T (p.Ser376Cys) c.1017A>T c.1276A>T (p.Ser426Cys) n.778A>T n.892A>T c.1251+2410A>T (n.1251+2410A>T) c.1084A>T (p.Ser362Cys) c.901A>T (p.Ser301Cys) | |
| 1 | g.77935889dup | CA2744232141 | NEXN | c.1318dup (p.Ser440LysfsTer7) c.1126dup (p.Ser376LysfsTer7) c.1017dup c.1276dup (p.Ser426LysfsTer7) n.778dup n.892dup c.1251+2410dup (n.1251+2410dup) c.1084dup (p.Ser362LysfsTer7) c.901dup (p.Ser301LysfsTer7) | |
| 1 | g.77935890G>A | CA918860 | NEXN | c.1319G>A (p.Ser440Asn) c.1127G>A (p.Ser376Asn) c.1018G>A c.1277G>A (p.Ser426Asn) n.779G>A n.893G>A c.1251+2411G>A (n.1251+2411G>A) c.1085G>A (p.Ser362Asn) c.902G>A (p.Ser301Asn) | dbSNP ExAC |
| 1 | g.77935890G>C | CA340878624 | NEXN | c.1319G>C (p.Ser440Thr) c.1127G>C (p.Ser376Thr) c.1018G>C c.1277G>C (p.Ser426Thr) n.779G>C n.893G>C c.1251+2411G>C (n.1251+2411G>C) c.1085G>C (p.Ser362Thr) c.902G>C (p.Ser301Thr) | |
| 1 | g.77935890G= | CA1177628286 | NEXN | c.1319G= (p.Ser440=) c.1127G= (p.Ser376=) c.1018G= c.1277G= (p.Ser426=) n.779G= n.893G= c.1251+2411G= (n.1251+2411G=) c.1085G= (p.Ser362=) c.902G= (p.Ser301=) | |
| 1 | g.77935890G>T | CA340878628 | NEXN | c.1319G>T (p.Ser440Ile) c.1127G>T (p.Ser376Ile) c.1018G>T c.1277G>T (p.Ser426Ile) n.779G>T n.893G>T c.1251+2411G>T (n.1251+2411G>T) c.1085G>T (p.Ser362Ile) c.902G>T (p.Ser301Ile) | |
| 1 | g.77935891_77935892del | CA2580652575 | NEXN | c.1320_1321del (p.Ser440ArgfsTer6) c.1128_1129del (p.Ser376ArgfsTer6) c.1019_1020del c.1278_1279del (p.Ser426ArgfsTer6) n.780_781del n.894_895del c.1251+2412_1251+2413del (n.1251+2412_1251+2413del) c.1086_1087del (p.Ser362ArgfsTer6) c.903_904del (p.Ser301ArgfsTer6) | |
| 1 | g.77935891T>A | CA340878638 | NEXN | c.1320T>A (p.Ser440Arg) c.1128T>A (p.Ser376Arg) c.1019T>A c.1278T>A (p.Ser426Arg) n.780T>A n.894T>A c.1251+2412T>A (n.1251+2412T>A) c.1086T>A (p.Ser362Arg) c.903T>A (p.Ser301Arg) | |
| 1 | g.77935891T>C | CA918861 | NEXN | c.1320T>C (p.Ser440=) c.1128T>C (p.Ser376=) c.1019T>C c.1278T>C (p.Ser426=) n.780T>C n.894T>C c.1251+2412T>C (n.1251+2412T>C) c.1086T>C (p.Ser362=) c.903T>C (p.Ser301=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.77935891T>G | CA340878637 | NEXN | c.1320T>G (p.Ser440Arg) c.1128T>G (p.Ser376Arg) c.1019T>G c.1278T>G (p.Ser426Arg) n.780T>G n.894T>G c.1251+2412T>G (n.1251+2412T>G) c.1086T>G (p.Ser362Arg) c.903T>G (p.Ser301Arg) | |
| 1 | g.77935891T= | CA1177628287 | NEXN | c.1320T= (p.Ser440=) c.1128T= (p.Ser376=) c.1019T= c.1278T= (p.Ser426=) n.780T= n.894T= c.1251+2412T= (n.1251+2412T=) c.1086T= (p.Ser362=) c.903T= (p.Ser301=) | |
| 1 | g.77935892G>A | CA340878639 | NEXN | c.1321G>A (p.Gly441Ser) c.1129G>A (p.Gly377Ser) c.1020G>A c.1279G>A (p.Gly427Ser) n.781G>A n.895G>A c.1251+2413G>A (n.1251+2413G>A) c.1087G>A (p.Gly363Ser) c.904G>A (p.Gly302Ser) | |
| 1 | g.77935892G>C | CA340878640 | NEXN | c.1321G>C (p.Gly441Arg) c.1129G>C (p.Gly377Arg) c.1020G>C c.1279G>C (p.Gly427Arg) n.781G>C n.895G>C c.1251+2413G>C (n.1251+2413G>C) c.1087G>C (p.Gly363Arg) c.904G>C (p.Gly302Arg) | |
| 1 | g.77935892G= | CA1177628288 | NEXN | c.1321G= (p.Gly441=) c.1129G= (p.Gly377=) c.1020G= c.1279G= (p.Gly427=) n.781G= n.895G= c.1251+2413G= (n.1251+2413G=) c.1087G= (p.Gly363=) c.904G= (p.Gly302=) | |
| 1 | g.77935892G>T | CA340878643 | NEXN | c.1321G>T (p.Gly441Cys) c.1129G>T (p.Gly377Cys) c.1020G>T c.1279G>T (p.Gly427Cys) n.781G>T n.895G>T c.1251+2413G>T (n.1251+2413G>T) c.1087G>T (p.Gly363Cys) c.904G>T (p.Gly302Cys) | ClinVar dbSNP |
| 1 | g.77935892_77935893del | CA2580652576 | NEXN | c.1321_1322del (p.Gly441LeufsTer5) c.1129_1130del (p.Gly377LeufsTer5) c.1020_1021del c.1279_1280del (p.Gly427LeufsTer5) n.781_782del n.895_896del c.1251+2413_1251+2414del (n.1251+2413_1251+2414del) c.1087_1088del (p.Gly363LeufsTer5) c.904_905del (p.Gly302LeufsTer5) | |
| 1 | g.77935893G>A | CA340878653 | NEXN | c.1322G>A (p.Gly441Asp) c.1130G>A (p.Gly377Asp) c.1021G>A c.1280G>A (p.Gly427Asp) n.782G>A n.896G>A c.1251+2414G>A (n.1251+2414G>A) c.1088G>A (p.Gly363Asp) c.905G>A (p.Gly302Asp) | ClinVar dbSNP |
| 1 | g.77935893G>C | CA340878658 | NEXN | c.1322G>C (p.Gly441Ala) c.1130G>C (p.Gly377Ala) c.1021G>C c.1280G>C (p.Gly427Ala) n.782G>C n.896G>C c.1251+2414G>C (n.1251+2414G>C) c.1088G>C (p.Gly363Ala) c.905G>C (p.Gly302Ala) | |
| 1 | g.77935893G>T | CA340878659 | NEXN | c.1322G>T (p.Gly441Val) c.1130G>T (p.Gly377Val) c.1021G>T c.1280G>T (p.Gly427Val) n.782G>T n.896G>T c.1251+2414G>T (n.1251+2414G>T) c.1088G>T (p.Gly363Val) c.905G>T (p.Gly302Val) | |
| 1 | g.77935894C>A | CA418709364 | NEXN | c.1323C>A (p.Gly441=) c.1131C>A (p.Gly377=) c.1022C>A c.1281C>A (p.Gly427=) n.783C>A n.897C>A c.1251+2415C>A (n.1251+2415C>A) c.1089C>A (p.Gly363=) c.906C>A (p.Gly302=) | |
| 1 | g.77935894C= | CA1177628289 | NEXN | c.1323C= (p.Gly441=) c.1131C= (p.Gly377=) c.1022C= c.1281C= (p.Gly427=) n.783C= n.897C= c.1251+2415C= (n.1251+2415C=) c.1089C= (p.Gly363=) c.906C= (p.Gly302=) | |
| 1 | g.77935894C>G | CA418709365 | NEXN | c.1323C>G (p.Gly441=) c.1131C>G (p.Gly377=) c.1022C>G c.1281C>G (p.Gly427=) n.783C>G n.897C>G c.1251+2415C>G (n.1251+2415C>G) c.1089C>G (p.Gly363=) c.906C>G (p.Gly302=) | |
| 1 | g.77935894C>T | CA418709366 | NEXN | c.1323C>T (p.Gly441=) c.1131C>T (p.Gly377=) c.1022C>T c.1281C>T (p.Gly427=) n.783C>T n.897C>T c.1251+2415C>T (n.1251+2415C>T) c.1089C>T (p.Gly363=) c.906C>T (p.Gly302=) | dbSNP |
| 1 | g.77935895T>A | CA340878662 | NEXN | c.1324T>A (p.Ser442Thr) c.1132T>A (p.Ser378Thr) c.1023T>A c.1282T>A (p.Ser428Thr) n.784T>A n.898T>A c.1251+2416T>A (n.1251+2416T>A) c.1090T>A (p.Ser364Thr) c.907T>A (p.Ser303Thr) | gnomAD v4 |
| 1 | g.77935895T>C | CA340878664 | NEXN | c.1324T>C (p.Ser442Pro) c.1132T>C (p.Ser378Pro) c.1023T>C c.1282T>C (p.Ser428Pro) n.784T>C n.898T>C c.1251+2416T>C (n.1251+2416T>C) c.1090T>C (p.Ser364Pro) c.907T>C (p.Ser303Pro) | |
| 1 | g.77935895T>G | CA340878672 | NEXN | c.1324T>G (p.Ser442Ala) c.1132T>G (p.Ser378Ala) c.1023T>G c.1282T>G (p.Ser428Ala) n.784T>G n.898T>G c.1251+2416T>G (n.1251+2416T>G) c.1090T>G (p.Ser364Ala) c.907T>G (p.Ser303Ala) | |
| 1 | g.77935896C>A | CA340878674 | NEXN | c.1325C>A (p.Ser442Tyr) c.1133C>A (p.Ser378Tyr) c.1024C>A c.1283C>A (p.Ser428Tyr) n.785C>A n.899C>A c.1251+2417C>A (n.1251+2417C>A) c.1091C>A (p.Ser364Tyr) c.908C>A (p.Ser303Tyr) | dbSNP |
| 1 | g.77935896C= | CA1177628290 | NEXN | c.1325C= (p.Ser442=) c.1133C= (p.Ser378=) c.1024C= c.1283C= (p.Ser428=) n.785C= n.899C= c.1251+2417C= (n.1251+2417C=) c.1091C= (p.Ser364=) c.908C= (p.Ser303=) | |
| 1 | g.77935896C>G | CA340878676 | NEXN | c.1325C>G (p.Ser442Cys) c.1133C>G (p.Ser378Cys) c.1024C>G c.1283C>G (p.Ser428Cys) n.785C>G n.899C>G c.1251+2417C>G (n.1251+2417C>G) c.1091C>G (p.Ser364Cys) c.908C>G (p.Ser303Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.77935896C>T | CA340878685 | NEXN | c.1325C>T (p.Ser442Phe) c.1133C>T (p.Ser378Phe) c.1024C>T c.1283C>T (p.Ser428Phe) n.785C>T n.899C>T c.1251+2417C>T (n.1251+2417C>T) c.1091C>T (p.Ser364Phe) c.908C>T (p.Ser303Phe) | |
| 1 | g.77935897T>A | CA418709368 | NEXN | c.1326T>A (p.Ser442=) c.1134T>A (p.Ser378=) c.1025T>A c.1284T>A (p.Ser428=) n.786T>A n.900T>A c.1251+2418T>A (n.1251+2418T>A) c.1092T>A (p.Ser364=) c.909T>A (p.Ser303=) | dbSNP |
| 1 | g.77935897T>C | CA24686464 | NEXN | c.1326T>C (p.Ser442=) c.1134T>C (p.Ser378=) c.1025T>C c.1284T>C (p.Ser428=) n.786T>C n.900T>C c.1251+2418T>C (n.1251+2418T>C) c.1092T>C (p.Ser364=) c.909T>C (p.Ser303=) | dbSNP gnomAD v4 |
| 1 | g.77935897T>G | CA418709370 | NEXN | c.1326T>G (p.Ser442=) c.1134T>G (p.Ser378=) c.1025T>G c.1284T>G (p.Ser428=) n.786T>G n.900T>G c.1251+2418T>G (n.1251+2418T>G) c.1092T>G (p.Ser364=) c.909T>G (p.Ser303=) | |
| 1 | g.77935897T= | CA1177628291 | NEXN | c.1326T= (p.Ser442=) c.1134T= (p.Ser378=) c.1025T= c.1284T= (p.Ser428=) n.786T= n.900T= c.1251+2418T= (n.1251+2418T=) c.1092T= (p.Ser364=) c.909T= (p.Ser303=) | |
| 1 | g.77935898A>C | CA340878691 | NEXN | c.1327A>C (p.Ile443Leu) c.1135A>C (p.Ile379Leu) c.1026A>C c.1285A>C (p.Ile429Leu) n.787A>C n.901A>C c.1251+2419A>C (n.1251+2419A>C) c.1093A>C (p.Ile365Leu) c.910A>C (p.Ile304Leu) | |
| 1 | g.77935898A>G | CA340878696 | NEXN | c.1327A>G (p.Ile443Val) c.1135A>G (p.Ile379Val) c.1026A>G c.1285A>G (p.Ile429Val) n.787A>G n.901A>G c.1251+2419A>G (n.1251+2419A>G) c.1093A>G (p.Ile365Val) c.910A>G (p.Ile304Val) | gnomAD v4 |
| 1 | g.77935898A>T | CA340878694 | NEXN | c.1327A>T (p.Ile443Phe) c.1135A>T (p.Ile379Phe) c.1026A>T c.1285A>T (p.Ile429Phe) n.787A>T n.901A>T c.1251+2419A>T (n.1251+2419A>T) c.1093A>T (p.Ile365Phe) c.910A>T (p.Ile304Phe) | |
| 1 | g.77935899T>A | CA340878699 | NEXN | c.1328T>A (p.Ile443Asn) c.1136T>A (p.Ile379Asn) c.1027T>A c.1286T>A (p.Ile429Asn) n.788T>A n.902T>A c.1251+2420T>A (n.1251+2420T>A) c.1094T>A (p.Ile365Asn) c.911T>A (p.Ile304Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.77935899T>C | CA340878708 | NEXN | c.1328T>C (p.Ile443Thr) c.1136T>C (p.Ile379Thr) c.1027T>C c.1286T>C (p.Ile429Thr) n.788T>C n.902T>C c.1251+2420T>C (n.1251+2420T>C) c.1094T>C (p.Ile365Thr) c.911T>C (p.Ile304Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.77935899T>G | CA340878704 | NEXN | c.1328T>G (p.Ile443Ser) c.1136T>G (p.Ile379Ser) c.1027T>G c.1286T>G (p.Ile429Ser) n.788T>G n.902T>G c.1251+2420T>G (n.1251+2420T>G) c.1094T>G (p.Ile365Ser) c.911T>G (p.Ile304Ser) | |
| 1 | g.77935899T= | CA1177628292 | NEXN | c.1328T= (p.Ile443=) c.1136T= (p.Ile379=) c.1027T= c.1286T= (p.Ile429=) n.788T= n.902T= c.1251+2420T= (n.1251+2420T=) c.1094T= (p.Ile365=) c.911T= (p.Ile304=) | |
| 1 | g.77935900T>A | CA418709376 | NEXN | c.1329T>A (p.Ile443=) c.1137T>A (p.Ile379=) c.1028T>A c.1287T>A (p.Ile429=) n.789T>A n.903T>A c.1251+2421T>A (n.1251+2421T>A) c.1095T>A (p.Ile365=) c.912T>A (p.Ile304=) | |
| 1 | g.77935900T>C | CA418709377 | NEXN | c.1329T>C (p.Ile443=) c.1137T>C (p.Ile379=) c.1028T>C c.1287T>C (p.Ile429=) n.789T>C n.903T>C c.1251+2421T>C (n.1251+2421T>C) c.1095T>C (p.Ile365=) c.912T>C (p.Ile304=) | |
| 1 | g.77935900T>G | CA340878712 | NEXN | c.1329T>G (p.Ile443Met) c.1137T>G (p.Ile379Met) c.1028T>G c.1287T>G (p.Ile429Met) n.789T>G n.903T>G c.1251+2421T>G (n.1251+2421T>G) c.1095T>G (p.Ile365Met) c.912T>G (p.Ile304Met) | |
| 1 | g.77935901C>A | CA340878721 | NEXN | c.1330C>A (p.Gln444Lys) c.1138C>A (p.Gln380Lys) c.1029C>A c.1288C>A (p.Gln430Lys) n.790C>A n.904C>A c.1251+2422C>A (n.1251+2422C>A) c.1096C>A (p.Gln366Lys) c.913C>A (p.Gln305Lys) | |
| 1 | g.77935901C>G | CA340878714 | NEXN | c.1330C>G (p.Gln444Glu) c.1138C>G (p.Gln380Glu) c.1029C>G c.1288C>G (p.Gln430Glu) n.790C>G n.904C>G c.1251+2422C>G (n.1251+2422C>G) c.1096C>G (p.Gln366Glu) c.913C>G (p.Gln305Glu) | |
| 1 | g.77935901C>T | CA340878718 | NEXN | c.1330C>T (p.Gln444Ter) c.1138C>T (p.Gln380Ter) c.1029C>T c.1288C>T (p.Gln430Ter) n.790C>T n.904C>T c.1251+2422C>T (n.1251+2422C>T) c.1096C>T (p.Gln366Ter) c.913C>T (p.Gln305Ter) | |
| 1 | g.77935902A>C | CA340878723 | NEXN | c.1331A>C (p.Gln444Pro) c.1139A>C (p.Gln380Pro) c.1030A>C c.1289A>C (p.Gln430Pro) n.791A>C n.905A>C c.1251+2423A>C (n.1251+2423A>C) c.1097A>C (p.Gln366Pro) c.914A>C (p.Gln305Pro) | |
| 1 | g.77935902A>G | CA340878734 | NEXN | c.1331A>G (p.Gln444Arg) c.1139A>G (p.Gln380Arg) c.1030A>G c.1289A>G (p.Gln430Arg) n.791A>G n.905A>G c.1251+2423A>G (n.1251+2423A>G) c.1097A>G (p.Gln366Arg) c.914A>G (p.Gln305Arg) | |
| 1 | g.77935902A>T | CA340878737 | NEXN | c.1331A>T (p.Gln444Leu) c.1139A>T (p.Gln380Leu) c.1030A>T c.1289A>T (p.Gln430Leu) n.791A>T n.905A>T c.1251+2423A>T (n.1251+2423A>T) c.1097A>T (p.Gln366Leu) c.914A>T (p.Gln305Leu) | |
| 1 | g.77935903A= | CA1177628293 | NEXN | c.1332A= (p.Gln444=) c.1140A= (p.Gln380=) c.1031A= c.1290A= (p.Gln430=) n.792A= n.906A= c.1251+2424A= (n.1251+2424A=) c.1098A= (p.Gln366=) c.915A= (p.Gln305=) | |
| 1 | g.77935903A>C | CA340878740 | NEXN | c.1332A>C (p.Gln444His) c.1140A>C (p.Gln380His) c.1031A>C c.1290A>C (p.Gln430His) n.792A>C n.906A>C c.1251+2424A>C (n.1251+2424A>C) c.1098A>C (p.Gln366His) c.915A>C (p.Gln305His) | |
| 1 | g.77935903A>G | CA418709382 | NEXN | c.1332A>G (p.Gln444=) c.1140A>G (p.Gln380=) c.1031A>G c.1290A>G (p.Gln430=) n.792A>G n.906A>G c.1251+2424A>G (n.1251+2424A>G) c.1098A>G (p.Gln366=) c.915A>G (p.Gln305=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.77935903A>T | CA340878743 | NEXN | c.1332A>T (p.Gln444His) c.1140A>T (p.Gln380His) c.1031A>T c.1290A>T (p.Gln430His) n.792A>T n.906A>T c.1251+2424A>T (n.1251+2424A>T) c.1098A>T (p.Gln366His) c.915A>T (p.Gln305His) | |
| 1 | g.77935904G>A | CA340878751 | NEXN | c.1333G>A (p.Ala445Thr) c.1141G>A (p.Ala381Thr) c.1032G>A c.1291G>A (p.Ala431Thr) n.793G>A n.907G>A c.1251+2425G>A (n.1251+2425G>A) c.1099G>A (p.Ala367Thr) c.916G>A (p.Ala306Thr) | dbSNP |
| 1 | g.77935904G>C | CA340878752 | NEXN | c.1333G>C (p.Ala445Pro) c.1141G>C (p.Ala381Pro) c.1032G>C c.1291G>C (p.Ala431Pro) n.793G>C n.907G>C c.1251+2425G>C (n.1251+2425G>C) c.1099G>C (p.Ala367Pro) c.916G>C (p.Ala306Pro) | |
| 1 | g.77935904G= | CA1177628294 | NEXN | c.1333G= (p.Ala445=) c.1141G= (p.Ala381=) c.1032G= c.1291G= (p.Ala431=) n.793G= n.907G= c.1251+2425G= (n.1251+2425G=) c.1099G= (p.Ala367=) c.916G= (p.Ala306=) | |
| 1 | g.77935904G>T | CA340878754 | NEXN | c.1333G>T (p.Ala445Ser) c.1141G>T (p.Ala381Ser) c.1032G>T c.1291G>T (p.Ala431Ser) n.793G>T n.907G>T c.1251+2425G>T (n.1251+2425G>T) c.1099G>T (p.Ala367Ser) c.916G>T (p.Ala306Ser) | |
| 1 | g.77935905C>A | CA340878756 | NEXN | c.1334C>A (p.Ala445Asp) c.1142C>A (p.Ala381Asp) c.1033C>A c.1292C>A (p.Ala431Asp) n.794C>A n.908C>A c.1251+2426C>A (n.1251+2426C>A) c.1100C>A (p.Ala367Asp) c.917C>A (p.Ala306Asp) | |
| 1 | g.77935905C>G | CA340878758 | NEXN | c.1334C>G (p.Ala445Gly) c.1142C>G (p.Ala381Gly) c.1033C>G c.1292C>G (p.Ala431Gly) n.794C>G n.908C>G c.1251+2426C>G (n.1251+2426C>G) c.1100C>G (p.Ala367Gly) c.917C>G (p.Ala306Gly) | |
| 1 | g.77935905C>T | CA340878760 | NEXN | c.1334C>T (p.Ala445Val) c.1142C>T (p.Ala381Val) c.1033C>T c.1292C>T (p.Ala431Val) n.794C>T n.908C>T c.1251+2426C>T (n.1251+2426C>T) c.1100C>T (p.Ala367Val) c.917C>T (p.Ala306Val) | |
| 1 | g.77935906T>A | CA418709389 | NEXN | c.1335T>A (p.Ala445=) c.1143T>A (p.Ala381=) c.1034T>A c.1293T>A (p.Ala431=) n.795T>A n.909T>A c.1251+2427T>A (n.1251+2427T>A) c.1101T>A (p.Ala367=) c.918T>A (p.Ala306=) | |
| 1 | g.77935906T>C | CA418709386 | NEXN | c.1335T>C (p.Ala445=) c.1143T>C (p.Ala381=) c.1034T>C c.1293T>C (p.Ala431=) n.795T>C n.909T>C c.1251+2427T>C (n.1251+2427T>C) c.1101T>C (p.Ala367=) c.918T>C (p.Ala306=) | gnomAD v4 |
| 1 | g.77935906T>G | CA418709388 | NEXN | c.1335T>G (p.Ala445=) c.1143T>G (p.Ala381=) c.1034T>G c.1293T>G (p.Ala431=) n.795T>G n.909T>G c.1251+2427T>G (n.1251+2427T>G) c.1101T>G (p.Ala367=) c.918T>G (p.Ala306=) | |
| 1 | g.77935907A= | CA1177628295 | NEXN | c.1336A= (p.Lys446=) c.1144A= (p.Lys382=) c.1035A= c.1294A= (p.Lys432=) n.796A= n.910A= c.1251+2428A= (n.1251+2428A=) c.1102A= (p.Lys368=) c.919A= (p.Lys307=) | |
| 1 | g.77935907A>C | CA340878783 | NEXN | c.1336A>C (p.Lys446Gln) c.1144A>C (p.Lys382Gln) c.1035A>C c.1294A>C (p.Lys432Gln) n.796A>C n.910A>C c.1251+2428A>C (n.1251+2428A>C) c.1102A>C (p.Lys368Gln) c.919A>C (p.Lys307Gln) | |
| 1 | g.77935907A>G | CA340878764 | NEXN | c.1336A>G (p.Lys446Glu) c.1144A>G (p.Lys382Glu) c.1035A>G c.1294A>G (p.Lys432Glu) n.796A>G n.910A>G c.1251+2428A>G (n.1251+2428A>G) c.1102A>G (p.Lys368Glu) c.919A>G (p.Lys307Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.77935907A>T | CA340878781 | NEXN | c.1336A>T (p.Lys446Ter) c.1144A>T (p.Lys382Ter) c.1035A>T c.1294A>T (p.Lys432Ter) n.796A>T n.910A>T c.1251+2428A>T (n.1251+2428A>T) c.1102A>T (p.Lys368Ter) c.919A>T (p.Lys307Ter) | gnomAD v4 |
| 1 | g.77935908A= | CA1177628296 | NEXN | c.1337A= (p.Lys446=) c.1145A= (p.Lys382=) c.1036A= c.1295A= (p.Lys432=) n.797A= n.911A= c.1251+2429A= (n.1251+2429A=) c.1103A= (p.Lys368=) c.920A= (p.Lys307=) | |
| 1 | g.77935908A>C | CA340878786 | NEXN | c.1337A>C (p.Lys446Thr) c.1145A>C (p.Lys382Thr) c.1036A>C c.1295A>C (p.Lys432Thr) n.797A>C n.911A>C c.1251+2429A>C (n.1251+2429A>C) c.1103A>C (p.Lys368Thr) c.920A>C (p.Lys307Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.77935908A>G | CA340878787 | NEXN | c.1337A>G (p.Lys446Arg) c.1145A>G (p.Lys382Arg) c.1036A>G c.1295A>G (p.Lys432Arg) n.797A>G n.911A>G c.1251+2429A>G (n.1251+2429A>G) c.1103A>G (p.Lys368Arg) c.920A>G (p.Lys307Arg) | |
| 1 | g.77935908A>T | CA340878788 | NEXN | c.1337A>T (p.Lys446Ile) c.1145A>T (p.Lys382Ile) c.1036A>T c.1295A>T (p.Lys432Ile) n.797A>T n.911A>T c.1251+2429A>T (n.1251+2429A>T) c.1103A>T (p.Lys368Ile) c.920A>T (p.Lys307Ile) | |
| 1 | g.77935909A>C | CA340878789 | NEXN | c.1338A>C (p.Lys446Asn) c.1146A>C (p.Lys382Asn) c.1037A>C c.1296A>C (p.Lys432Asn) n.798A>C n.912A>C c.1251+2430A>C (n.1251+2430A>C) c.1104A>C (p.Lys368Asn) c.921A>C (p.Lys307Asn) | |
| 1 | g.77935909A>G | CA418709393 | NEXN | c.1338A>G (p.Lys446=) c.1146A>G (p.Lys382=) c.1037A>G c.1296A>G (p.Lys432=) n.798A>G n.912A>G c.1251+2430A>G (n.1251+2430A>G) c.1104A>G (p.Lys368=) c.921A>G (p.Lys307=) | |
| 1 | g.77935909A>T | CA340878790 | NEXN | c.1338A>T (p.Lys446Asn) c.1146A>T (p.Lys382Asn) c.1037A>T c.1296A>T (p.Lys432Asn) n.798A>T n.912A>T c.1251+2430A>T (n.1251+2430A>T) c.1104A>T (p.Lys368Asn) c.921A>T (p.Lys307Asn) | |
| 1 | g.77935910A>C | CA340878794 | NEXN | c.1339A>C (p.Asn447His) c.1147A>C (p.Asn383His) c.1038A>C c.1297A>C (p.Asn433His) n.799A>C n.913A>C c.1251+2431A>C (n.1251+2431A>C) c.1105A>C (p.Asn369His) c.922A>C (p.Asn308His) | |
| 1 | g.77935910A>G | CA340878796 | NEXN | c.1339A>G (p.Asn447Asp) c.1147A>G (p.Asn383Asp) c.1038A>G c.1297A>G (p.Asn433Asp) n.799A>G n.913A>G c.1251+2431A>G (n.1251+2431A>G) c.1105A>G (p.Asn369Asp) c.922A>G (p.Asn308Asp) | |
| 1 | g.77935910A>T | CA340878798 | NEXN | c.1339A>T (p.Asn447Tyr) c.1147A>T (p.Asn383Tyr) c.1038A>T c.1297A>T (p.Asn433Tyr) n.799A>T n.913A>T c.1251+2431A>T (n.1251+2431A>T) c.1105A>T (p.Asn369Tyr) c.922A>T (p.Asn308Tyr) | |
| 1 | g.77935911A>C | CA340878806 | NEXN | c.1340A>C (p.Asn447Thr) c.1148A>C (p.Asn383Thr) c.1039A>C c.1298A>C (p.Asn433Thr) n.800A>C n.914A>C c.1251+2432A>C (n.1251+2432A>C) c.1106A>C (p.Asn369Thr) c.923A>C (p.Asn308Thr) | gnomAD v4 |
| 1 | g.77935911A>G | CA340878809 | NEXN | c.1340A>G (p.Asn447Ser) c.1148A>G (p.Asn383Ser) c.1039A>G c.1298A>G (p.Asn433Ser) n.800A>G n.914A>G c.1251+2432A>G (n.1251+2432A>G) c.1106A>G (p.Asn369Ser) c.923A>G (p.Asn308Ser) | |
| 1 | g.77935911A>T | CA340878810 | NEXN | c.1340A>T (p.Asn447Ile) c.1148A>T (p.Asn383Ile) c.1039A>T c.1298A>T (p.Asn433Ile) n.800A>T n.914A>T c.1251+2432A>T (n.1251+2432A>T) c.1106A>T (p.Asn369Ile) c.923A>T (p.Asn308Ile) | |
| 1 | g.77935912C>A | CA340878814 | NEXN | c.1341C>A (p.Asn447Lys) c.1149C>A (p.Asn383Lys) c.1040C>A c.1299C>A (p.Asn433Lys) n.801C>A n.915C>A c.1251+2433C>A (n.1251+2433C>A) c.1107C>A (p.Asn369Lys) c.924C>A (p.Asn308Lys) | |
| 1 | g.77935912C= | CA1177628297 | NEXN | c.1341C= (p.Asn447=) c.1149C= (p.Asn383=) c.1040C= c.1299C= (p.Asn433=) n.801C= n.915C= c.1251+2433C= (n.1251+2433C=) c.1107C= (p.Asn369=) c.924C= (p.Asn308=) | |
| 1 | g.77935912C>G | CA340878815 | NEXN | c.1341C>G (p.Asn447Lys) c.1149C>G (p.Asn383Lys) c.1040C>G c.1299C>G (p.Asn433Lys) n.801C>G n.915C>G c.1251+2433C>G (n.1251+2433C>G) c.1107C>G (p.Asn369Lys) c.924C>G (p.Asn308Lys) | |
| 1 | g.77935912C>T | CA418709398 | NEXN | c.1341C>T (p.Asn447=) c.1149C>T (p.Asn383=) c.1040C>T c.1299C>T (p.Asn433=) n.801C>T n.915C>T c.1251+2433C>T (n.1251+2433C>T) c.1107C>T (p.Asn369=) c.924C>T (p.Asn308=) | dbSNP |
| 1 | g.77935913C>A | CA340878818 | NEXN | c.1342C>A (p.Leu448Ile) c.1150C>A (p.Leu384Ile) c.1041C>A c.1300C>A (p.Leu434Ile) n.802C>A n.916C>A c.1251+2434C>A (n.1251+2434C>A) c.1108C>A (p.Leu370Ile) c.925C>A (p.Leu309Ile) | |
| 1 | g.77935913C= | CA1177628298 | NEXN | c.1342C= (p.Leu448=) c.1150C= (p.Leu384=) c.1041C= c.1300C= (p.Leu434=) n.802C= n.916C= c.1251+2434C= (n.1251+2434C=) c.1108C= (p.Leu370=) c.925C= (p.Leu309=) | |
| 1 | g.77935913C>G | CA340878821 | NEXN | c.1342C>G (p.Leu448Val) c.1150C>G (p.Leu384Val) c.1041C>G c.1300C>G (p.Leu434Val) n.802C>G n.916C>G c.1251+2434C>G (n.1251+2434C>G) c.1108C>G (p.Leu370Val) c.925C>G (p.Leu309Val) | |
| 1 | g.77935913C>T | CA418709400 | NEXN | c.1342C>T (p.Leu448=) c.1150C>T (p.Leu384=) c.1041C>T c.1300C>T (p.Leu434=) n.802C>T n.916C>T c.1251+2434C>T (n.1251+2434C>T) c.1108C>T (p.Leu370=) c.925C>T (p.Leu309=) | ClinVar dbSNP |
| 1 | g.77935914T>A | CA340878822 | NEXN | c.1343T>A (p.Leu448Gln) c.1151T>A (p.Leu384Gln) c.1042T>A c.1301T>A (p.Leu434Gln) n.803T>A n.917T>A c.1251+2435T>A (n.1251+2435T>A) c.1109T>A (p.Leu370Gln) c.926T>A (p.Leu309Gln) | |
| 1 | g.77935914T>C | CA340878823 | NEXN | c.1343T>C (p.Leu448Pro) c.1151T>C (p.Leu384Pro) c.1042T>C c.1301T>C (p.Leu434Pro) n.803T>C n.917T>C c.1251+2435T>C (n.1251+2435T>C) c.1109T>C (p.Leu370Pro) c.926T>C (p.Leu309Pro) | |
| 1 | g.77935914T>G | CA340878825 | NEXN | c.1343T>G (p.Leu448Arg) c.1151T>G (p.Leu384Arg) c.1042T>G c.1301T>G (p.Leu434Arg) n.803T>G n.917T>G c.1251+2435T>G (n.1251+2435T>G) c.1109T>G (p.Leu370Arg) c.926T>G (p.Leu309Arg) | |
| 1 | g.77935914T= | CA1177628299 | NEXN | c.1343T= (p.Leu448=) c.1151T= (p.Leu384=) c.1042T= c.1301T= (p.Leu434=) n.803T= n.917T= c.1251+2435T= (n.1251+2435T=) c.1109T= (p.Leu370=) c.926T= (p.Leu309=) | |
| 1 | g.77935915A= | CA1177628300 | NEXN | c.1344A= (p.Leu448=) c.1152A= (p.Leu384=) c.1043A= c.1302A= (p.Leu434=) n.804A= n.918A= c.1251+2436A= (n.1251+2436A=) c.1110A= (p.Leu370=) c.927A= (p.Leu309=) | |
| 1 | g.77935915A>C | CA418709403 | NEXN | c.1344A>C (p.Leu448=) c.1152A>C (p.Leu384=) c.1043A>C c.1302A>C (p.Leu434=) n.804A>C n.918A>C c.1251+2436A>C (n.1251+2436A>C) c.1110A>C (p.Leu370=) c.927A>C (p.Leu309=) | |
| 1 | g.77935915A>G | CA418709404 | NEXN | c.1344A>G (p.Leu448=) c.1152A>G (p.Leu384=) c.1043A>G c.1302A>G (p.Leu434=) n.804A>G n.918A>G c.1251+2436A>G (n.1251+2436A>G) c.1110A>G (p.Leu370=) c.927A>G (p.Leu309=) | dbSNP |
| 1 | g.77935915A>T | CA418709405 | NEXN | c.1344A>T (p.Leu448=) c.1152A>T (p.Leu384=) c.1043A>T c.1302A>T (p.Leu434=) n.804A>T n.918A>T c.1251+2436A>T (n.1251+2436A>T) c.1110A>T (p.Leu370=) c.927A>T (p.Leu309=) | gnomAD v4 |
| 1 | g.77935919dup | CA658795479 | NEXN | c.1348dup (p.Ser450LysfsTer4) c.1156dup (p.Ser386LysfsTer4) c.1047dup n.808dup n.922dup c.1306dup (p.Ser436LysfsTer4) c.1251+2440dup (n.1251+2440dup) c.1114dup (p.Ser372LysfsTer4) c.931dup (p.Ser311LysfsTer4) | ClinVar dbSNP |
| 1 | g.77935916A>C | CA340878827 | NEXN | c.1345A>C (p.Lys449Gln) c.1153A>C (p.Lys385Gln) c.1044A>C c.1303A>C (p.Lys435Gln) n.805A>C n.919A>C c.1251+2437A>C (n.1251+2437A>C) c.1111A>C (p.Lys371Gln) c.928A>C (p.Lys310Gln) | |
| 1 | g.77935916A>G | CA340878831 | NEXN | c.1345A>G (p.Lys449Glu) c.1153A>G (p.Lys385Glu) c.1044A>G c.1303A>G (p.Lys435Glu) n.805A>G n.919A>G c.1251+2437A>G (n.1251+2437A>G) c.1111A>G (p.Lys371Glu) c.928A>G (p.Lys310Glu) | |
| 1 | g.77935916A>T | CA340878833 | NEXN | c.1345A>T (p.Lys449Ter) c.1153A>T (p.Lys385Ter) c.1044A>T c.1303A>T (p.Lys435Ter) n.805A>T n.919A>T c.1251+2437A>T (n.1251+2437A>T) c.1111A>T (p.Lys371Ter) c.928A>T (p.Lys310Ter) | |
| 1 | g.77935917A>C | CA340878838 | NEXN | c.1346A>C (p.Lys449Thr) c.1154A>C (p.Lys385Thr) c.1045A>C c.1304A>C (p.Lys435Thr) n.806A>C n.920A>C c.1251+2438A>C (n.1251+2438A>C) c.1112A>C (p.Lys371Thr) c.929A>C (p.Lys310Thr) | |
| 1 | g.77935917A>G | CA340878841 | NEXN | c.1346A>G (p.Lys449Arg) c.1154A>G (p.Lys385Arg) c.1045A>G c.1304A>G (p.Lys435Arg) n.806A>G n.920A>G c.1251+2438A>G (n.1251+2438A>G) c.1112A>G (p.Lys371Arg) c.929A>G (p.Lys310Arg) | |
| 1 | g.77935917A>T | CA340878843 | NEXN | c.1346A>T (p.Lys449Ile) c.1154A>T (p.Lys385Ile) c.1045A>T c.1304A>T (p.Lys435Ile) n.806A>T n.920A>T c.1251+2438A>T (n.1251+2438A>T) c.1112A>T (p.Lys371Ile) c.929A>T (p.Lys310Ile) | |
| 1 | g.77935917_77935921delinsAAAGC | CA1177628301 | NEXN | c.1346_1350delinsAAAGC (p.Lys449=) c.1154_1158delinsAAAGC (p.Lys385=) c.1045_1049delinsAAAGC n.806_810delinsAAAGC n.920_924delinsAAAGC c.1304_1308delinsAAAGC (p.Lys435=) c.1251+2438_1251+2442delinsAAAGC (n.1251+2438_1251+2442delinsAAAGC) c.1112_1116delinsAAAGC (p.Lys371=) c.929_933delinsAAAGC (p.Lys310=) | |
| 1 | g.77935918A>C | CA340878845 | NEXN | c.1347A>C (p.Lys449Asn) c.1155A>C (p.Lys385Asn) c.1046A>C c.1305A>C (p.Lys435Asn) n.807A>C n.921A>C c.1251+2439A>C (n.1251+2439A>C) c.1113A>C (p.Lys371Asn) c.930A>C (p.Lys310Asn) | |
| 1 | g.77935918A>G | CA418709407 | NEXN | c.1347A>G (p.Lys449=) c.1155A>G (p.Lys385=) c.1046A>G c.1305A>G (p.Lys435=) n.807A>G n.921A>G c.1251+2439A>G (n.1251+2439A>G) c.1113A>G (p.Lys371=) c.930A>G (p.Lys310=) | |
| 1 | g.77935918A>T | CA340878846 | NEXN | c.1347A>T (p.Lys449Asn) c.1155A>T (p.Lys385Asn) c.1046A>T c.1305A>T (p.Lys435Asn) n.807A>T n.921A>T c.1251+2439A>T (n.1251+2439A>T) c.1113A>T (p.Lys371Asn) c.930A>T (p.Lys310Asn) | |
| 1 | g.77935921_77935924del | CA918862 | NEXN | c.1350_1353del (p.Lys451LeufsTer16) c.1158_1161del (p.Lys387LeufsTer16) c.1049_1052del n.810_813del n.924_927del c.1308_1311del (p.Lys437LeufsTer16) c.1251+2442_1251+2445del (n.1251+2442_1251+2445del) c.1116_1119del (p.Lys373LeufsTer16) c.933_936del (p.Lys312LeufsTer16) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.77935919A= | CA1177628302 | NEXN | c.1348A= (p.Ser450=) c.1156A= (p.Ser386=) c.1047A= c.1306A= n.808A= n.922A= c.1306A= (p.Ser436=) c.1251+2440A= (n.1251+2440A=) c.1114A= (p.Ser372=) c.931A= (p.Ser311=) | |
| 1 | g.77935919A>C | CA340878858 | NEXN | c.1348A>C (p.Ser450Arg) c.1156A>C (p.Ser386Arg) c.1047A>C c.1306A>C n.808A>C n.922A>C c.1306A>C (p.Ser436Arg) c.1251+2440A>C (n.1251+2440A>C) c.1114A>C (p.Ser372Arg) c.931A>C (p.Ser311Arg) | |
| 1 | g.77935919A>G | CA340878859 | NEXN | c.1348A>G (p.Ser450Gly) c.1156A>G (p.Ser386Gly) c.1047A>G c.1306A>G n.808A>G n.922A>G c.1306A>G (p.Ser436Gly) c.1251+2440A>G (n.1251+2440A>G) c.1114A>G (p.Ser372Gly) c.931A>G (p.Ser311Gly) | dbSNP |
| 1 | g.77935919A>T | CA340878852 | NEXN | c.1348A>T (p.Ser450Cys) c.1156A>T (p.Ser386Cys) c.1047A>T c.1306A>T n.808A>T n.922A>T c.1306A>T (p.Ser436Cys) c.1251+2440A>T (n.1251+2440A>T) c.1114A>T (p.Ser372Cys) c.931A>T (p.Ser311Cys) | |
| 1 | g.77935920G>A | CA340878862 | NEXN | c.1349G>A (p.Ser450Asn) c.1157G>A (p.Ser386Asn) c.1048G>A n.809G>A n.923G>A c.1307G>A (p.Ser436Asn) c.1251+2441G>A (n.1251+2441G>A) c.1115G>A (p.Ser372Asn) c.932G>A (p.Ser311Asn) | |
| 1 | g.77935920G>C | CA340878864 | NEXN | c.1349G>C (p.Ser450Thr) c.1157G>C (p.Ser386Thr) c.1048G>C n.809G>C n.923G>C c.1307G>C (p.Ser436Thr) c.1251+2441G>C (n.1251+2441G>C) c.1115G>C (p.Ser372Thr) c.932G>C (p.Ser311Thr) | |
| 1 | g.77935920G>T | CA340878867 | NEXN | c.1349G>T (p.Ser450Ile) c.1157G>T (p.Ser386Ile) c.1048G>T n.809G>T n.923G>T c.1307G>T (p.Ser436Ile) c.1251+2441G>T (n.1251+2441G>T) c.1115G>T (p.Ser372Ile) c.932G>T (p.Ser311Ile) | |
| 1 | g.77935921C>A | CA340878870 | NEXN | c.1350C>A (p.Ser450Arg) c.1158C>A (p.Ser386Arg) c.1049C>A n.810C>A n.924C>A c.1308C>A (p.Ser436Arg) c.1251+2442C>A (n.1251+2442C>A) c.1116C>A (p.Ser372Arg) c.933C>A (p.Ser311Arg) | |
| 1 | g.77935921C>G | CA340878872 | NEXN | c.1350C>G (p.Ser450Arg) c.1158C>G (p.Ser386Arg) c.1049C>G n.810C>G n.924C>G c.1308C>G (p.Ser436Arg) c.1251+2442C>G (n.1251+2442C>G) c.1116C>G (p.Ser372Arg) c.933C>G (p.Ser311Arg) | |
| 1 | g.77935921C>T | CA418709411 | NEXN | c.1350C>T (p.Ser450=) c.1158C>T (p.Ser386=) c.1049C>T n.810C>T n.924C>T c.1308C>T (p.Ser436=) c.1251+2442C>T (n.1251+2442C>T) c.1116C>T (p.Ser372=) c.933C>T (p.Ser311=) |