Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.115664071G>A | CA420178168 | VANGL1 | c.615G>A (p.Gly205=) c.609G>A (p.Gly203=) | |
1 | g.115664071G>C | CA420178169 | VANGL1 | c.615G>C (p.Gly205=) c.609G>C (p.Gly203=) | |
1 | g.115664071G>T | CA420178170 | VANGL1 | c.615G>T (p.Gly205=) c.609G>T (p.Gly203=) | |
1 | g.115664072G>A | CA341763127 | VANGL1 | c.616G>A (p.Val206Ile) c.610G>A (p.Val204Ile) | gnomAD v4 |
1 | g.115664072G>C | CA341763128 | VANGL1 | c.616G>C (p.Val206Leu) c.610G>C (p.Val204Leu) | |
1 | g.115664072G>T | CA341763129 | VANGL1 | c.616G>T (p.Val206Phe) c.610G>T (p.Val204Phe) | gnomAD v4 |
1 | g.115664073T>A | CA341763130 | VANGL1 | c.617T>A (p.Val206Asp) c.611T>A (p.Val204Asp) | |
1 | g.115664073T>C | CA341763131 | VANGL1 | c.617T>C (p.Val206Ala) c.611T>C (p.Val204Ala) | |
1 | g.115664073T>G | CA341763132 | VANGL1 | c.617T>G (p.Val206Gly) c.611T>G (p.Val204Gly) | |
1 | g.115664074C>A | CA420178172 | VANGL1 | c.618C>A (p.Val206=) c.612C>A (p.Val204=) | gnomAD v4 |
1 | g.115664074C= | CA1148472860 | VANGL1 | c.618C= (p.Val206=) c.612C= (p.Val204=) | |
1 | g.115664074C>G | CA1023279 | VANGL1 | c.618C>G (p.Val206=) c.612C>G (p.Val204=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.115664074C>T | CA420178171 | VANGL1 | c.618C>T (p.Val206=) c.612C>T (p.Val204=) | dbSNP COSMIC |
1 | g.115664075C>A | CA341763133 | VANGL1 | c.619C>A (p.Arg207Ser) c.613C>A (p.Arg205Ser) | |
1 | g.115664075C= | CA1190697372 | VANGL1 | c.619C= (p.Arg207=) c.613C= (p.Arg205=) | |
1 | g.115664075C>G | CA341763134 | VANGL1 | c.619C>G (p.Arg207Gly) c.613C>G (p.Arg205Gly) | |
1 | g.115664075C>T | CA1023280 | VANGL1 | c.619C>T (p.Arg207Cys) c.613C>T (p.Arg205Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.115664076G>A | CA1023281 | VANGL1 | c.620G>A (p.Arg207His) c.614G>A (p.Arg205His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.115664076G>C | CA341763136 | VANGL1 | c.620G>C (p.Arg207Pro) c.614G>C (p.Arg205Pro) | |
1 | g.115664076G= | CA1190697373 | VANGL1 | c.620G= (p.Arg207=) c.614G= (p.Arg205=) | |
1 | g.115664076G>T | CA341763135 | VANGL1 | c.620G>T (p.Arg207Leu) c.614G>T (p.Arg205Leu) | |
1 | g.115664077C>A | CA420178173 | VANGL1 | c.621C>A (p.Arg207=) c.615C>A (p.Arg205=) | |
1 | g.115664077C>G | CA420178174 | VANGL1 | c.621C>G (p.Arg207=) c.615C>G (p.Arg205=) | |
1 | g.115664077C>T | CA420178175 | VANGL1 | c.621C>T (p.Arg207=) c.615C>T (p.Arg205=) | |
1 | g.115664078A= | CA1190697374 | VANGL1 | c.622A= (p.Ile208=) c.616A= (p.Ile206=) | |
1 | g.115664078A>C | CA1023282 | VANGL1 | c.622A>C (p.Ile208Leu) c.616A>C (p.Ile206Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.115664078A>G | CA341763137 | VANGL1 | c.622A>G (p.Ile208Val) c.616A>G (p.Ile206Val) | gnomAD v4 |
1 | g.115664078A>T | CA341763138 | VANGL1 | c.622A>T (p.Ile208Phe) c.616A>T (p.Ile206Phe) | |
1 | g.115664079T>A | CA341763139 | VANGL1 | c.623T>A (p.Ile208Asn) c.617T>A (p.Ile206Asn) | gnomAD v4 |
1 | g.115664079T>C | CA341763140 | VANGL1 | c.623T>C (p.Ile208Thr) c.617T>C (p.Ile206Thr) | |
1 | g.115664079T>G | CA341763141 | VANGL1 | c.623T>G (p.Ile208Ser) c.617T>G (p.Ile206Ser) | |
1 | g.115664080T>A | CA420178176 | VANGL1 | c.624T>A (p.Ile208=) c.618T>A (p.Ile206=) | |
1 | g.115664080T>C | CA420178177 | VANGL1 | c.624T>C (p.Ile208=) c.618T>C (p.Ile206=) | |
1 | g.115664080T>G | CA341763142 | VANGL1 | c.624T>G (p.Ile208Met) c.618T>G (p.Ile206Met) | |
1 | g.115664081T>A | CA341763143 | VANGL1 | c.625T>A (p.Leu209Met) c.619T>A (p.Leu207Met) | |
1 | g.115664081T>C | CA420178178 | VANGL1 | c.625T>C (p.Leu209=) c.619T>C (p.Leu207=) | |
1 | g.115664081T>G | CA341763144 | VANGL1 | c.625T>G (p.Leu209Val) c.619T>G (p.Leu207Val) | |
1 | g.115664082T>A | CA341763145 | VANGL1 | c.626T>A (p.Leu209Ter) c.620T>A (p.Leu207Ter) | |
1 | g.115664082T>C | CA29619726 | VANGL1 | c.626T>C (p.Leu209Ser) c.620T>C (p.Leu207Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.115664082T>G | CA341763146 | VANGL1 | c.626T>G (p.Leu209Trp) c.620T>G (p.Leu207Trp) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.115664082T= | CA1143492592 | VANGL1 | c.626T= (p.Leu209=) c.620T= (p.Leu207=) | |
1 | g.115664083G>A | CA420178179 | VANGL1 | c.627G>A (p.Leu209=) c.621G>A (p.Leu207=) | |
1 | g.115664083G>C | CA341763148 | VANGL1 | c.627G>C (p.Leu209Phe) c.621G>C (p.Leu207Phe) | |
1 | g.115664083G>T | CA341763147 | VANGL1 | c.627G>T (p.Leu209Phe) c.621G>T (p.Leu207Phe) | |
1 | g.115664084G>A | CA341763149 | VANGL1 | c.628G>A (p.Asp210Asn) c.622G>A (p.Asp208Asn) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.115664084G>C | CA341763150 | VANGL1 | c.628G>C (p.Asp210His) c.622G>C (p.Asp208His) | gnomAD v4 |
1 | g.115664084G= | CA1190697375 | VANGL1 | c.628G= (p.Asp210=) c.622G= (p.Asp208=) | |
1 | g.115664084G>T | CA341763151 | VANGL1 | c.628G>T (p.Asp210Tyr) c.622G>T (p.Asp208Tyr) | dbSNP gnomAD v4 |
1 | g.115664085A>C | CA341763152 | VANGL1 | c.629A>C (p.Asp210Ala) c.623A>C (p.Asp208Ala) | |
1 | g.115664085A>G | CA341763153 | VANGL1 | c.629A>G (p.Asp210Gly) c.623A>G (p.Asp208Gly) |