UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 1 | g.115664085A>T | CA341763154 | VANGL1 | c.629A>T (p.Asp210Val) c.623A>T (p.Asp208Val) | |
| 1 | g.115664086C>A | CA341763155 | VANGL1 | c.630C>A (p.Asp210Glu) c.624C>A (p.Asp208Glu) | |
| 1 | g.115664086C= | CA1190697376 | VANGL1 | c.630C= (p.Asp210=) c.624C= (p.Asp208=) | |
| 1 | g.115664086C>G | CA341763156 | VANGL1 | c.630C>G (p.Asp210Glu) c.624C>G (p.Asp208Glu) | |
| 1 | g.115664086C>T | CA1023283 | VANGL1 | c.630C>T (p.Asp210=) c.624C>T (p.Asp208=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115664087T>A | CA341763157 | VANGL1 | c.631T>A (p.Ser211Thr) c.625T>A (p.Ser209Thr) | |
| 1 | g.115664087T>C | CA1023284 | VANGL1 | c.631T>C (p.Ser211Pro) c.625T>C (p.Ser209Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115664087T>G | CA341763158 | VANGL1 | c.631T>G (p.Ser211Ala) c.625T>G (p.Ser209Ala) | |
| 1 | g.115664087T= | CA1190697377 | VANGL1 | c.631T= (p.Ser211=) c.625T= (p.Ser209=) | |
| 1 | g.115664088C>A | CA341763161 | VANGL1 | c.632C>A (p.Ser211Tyr) c.626C>A (p.Ser209Tyr) | |
| 1 | g.115664088C>G | CA341763160 | VANGL1 | c.632C>G (p.Ser211Cys) c.626C>G (p.Ser209Cys) | |
| 1 | g.115664088C>T | CA341763159 | VANGL1 | c.632C>T (p.Ser211Phe) c.626C>T (p.Ser209Phe) | |
| 1 | g.115664089T>A | CA420178180 | VANGL1 | c.633T>A (p.Ser211=) c.627T>A (p.Ser209=) | |
| 1 | g.115664089T>C | CA420178181 | VANGL1 | c.633T>C (p.Ser211=) c.627T>C (p.Ser209=) | |
| 1 | g.115664089T>G | CA420178182 | VANGL1 | c.633T>G (p.Ser211=) c.627T>G (p.Ser209=) | |
| 1 | g.115664090C>A | CA420178183 | VANGL1 | c.634C>A (p.Arg212=) c.628C>A (p.Arg210=) | |
| 1 | g.115664090C= | CA1147402700 | VANGL1 | c.634C= (p.Arg212=) c.628C= (p.Arg210=) | |
| 1 | g.115664090C>G | CA29619765 | VANGL1 | c.634C>G (p.Arg212Gly) c.628C>G (p.Arg210Gly) | dbSNP |
| 1 | g.115664090C>T | CA1023285 | VANGL1 | c.634C>T (p.Arg212Trp) c.628C>T (p.Arg210Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.115664091G>A | CA29619791 | VANGL1 | c.635G>A (p.Arg212Gln) c.629G>A (p.Arg210Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.115664091G>C | CA341763162 | VANGL1 | c.635G>C (p.Arg212Pro) c.629G>C (p.Arg210Pro) | gnomAD v4 |
| 1 | g.115664091G= | CA1190697378 | VANGL1 | c.635G= (p.Arg212=) c.629G= (p.Arg210=) | |
| 1 | g.115664091G>T | CA341763163 | VANGL1 | c.635G>T (p.Arg212Leu) c.629G>T (p.Arg210Leu) | |
| 1 | g.115664092G>A | CA420178184 | VANGL1 | c.636G>A (p.Arg212=) c.630G>A (p.Arg210=) | |
| 1 | g.115664092G>C | CA420178185 | VANGL1 | c.636G>C (p.Arg212=) c.630G>C (p.Arg210=) | |
| 1 | g.115664092G>T | CA420178186 | VANGL1 | c.636G>T (p.Arg212=) c.630G>T (p.Arg210=) | COSMIC |
| 1 | g.115664093G>A | CA1023286 | VANGL1 | c.637G>A (p.Asp213Asn) c.631G>A (p.Asp211Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115664093G>C | CA341763164 | VANGL1 | c.637G>C (p.Asp213His) c.631G>C (p.Asp211His) | |
| 1 | g.115664093G= | CA1190697379 | VANGL1 | c.637G= (p.Asp213=) c.631G= (p.Asp211=) | |
| 1 | g.115664093G>T | CA341763165 | VANGL1 | c.637G>T (p.Asp213Tyr) c.631G>T (p.Asp211Tyr) | gnomAD v4 |
| 1 | g.115664094A= | CA1190697380 | VANGL1 | c.638A= (p.Asp213=) c.632A= (p.Asp211=) | |
| 1 | g.115664094A>C | CA341763166 | VANGL1 | c.638A>C (p.Asp213Ala) c.632A>C (p.Asp211Ala) | |
| 1 | g.115664094A>G | CA341763167 | VANGL1 | c.638A>G (p.Asp213Gly) c.632A>G (p.Asp211Gly) | |
| 1 | g.115664094A>T | CA341763168 | VANGL1 | c.638A>T (p.Asp213Val) c.632A>T (p.Asp211Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115664095C>A | CA341763169 | VANGL1 | c.639C>A (p.Asp213Glu) c.633C>A (p.Asp211Glu) | dbSNP |
| 1 | g.115664095C= | CA1190697381 | VANGL1 | c.639C= (p.Asp213=) c.633C= (p.Asp211=) | |
| 1 | g.115664095C>G | CA341763170 | VANGL1 | c.639C>G (p.Asp213Glu) c.633C>G (p.Asp211Glu) | |
| 1 | g.115664095C>T | CA1023287 | VANGL1 | c.639C>T (p.Asp213=) c.633C>T (p.Asp211=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115664096C>A | CA420178187 | VANGL1 | c.640C>A (p.Arg214=) c.634C>A (p.Arg212=) | |
| 1 | g.115664096C= | CA1141926430 | VANGL1 | c.640C= (p.Arg214=) c.634C= (p.Arg212=) | |
| 1 | g.115664096C>G | CA341763171 | VANGL1 | c.640C>G (p.Arg214Gly) c.634C>G (p.Arg212Gly) | |
| 1 | g.115664096C>T | CA1023288 | VANGL1 | c.640C>T (p.Arg214Trp) c.634C>T (p.Arg212Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115664097G>A | CA1023289 | VANGL1 | c.641G>A (p.Arg214Gln) c.635G>A (p.Arg212Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115664097G>C | CA341763172 | VANGL1 | c.641G>C (p.Arg214Pro) c.635G>C (p.Arg212Pro) | |
| 1 | g.115664097G= | CA1190697382 | VANGL1 | c.641G= (p.Arg214=) c.635G= (p.Arg212=) | |
| 1 | g.115664097G>T | CA341763173 | VANGL1 | c.641G>T (p.Arg214Leu) c.635G>T (p.Arg212Leu) | |
| 1 | g.115664098G>A | CA420178188 | VANGL1 | c.642G>A (p.Arg214=) c.636G>A (p.Arg212=) | |
| 1 | g.115664098G>C | CA420178189 | VANGL1 | c.642G>C (p.Arg214=) c.636G>C (p.Arg212=) | |
| 1 | g.115664098G>T | CA420178190 | VANGL1 | c.642G>T (p.Arg214=) c.636G>T (p.Arg212=) | gnomAD v4 |
| 1 | g.115664099A>C | CA341763174 | VANGL1 | c.643A>C (p.Asn215His) c.637A>C (p.Asn213His) | |
| 1 | g.115664099A>G | CA341763175 | VANGL1 | c.643A>G (p.Asn215Asp) c.637A>G (p.Asn213Asp) | |
| 1 | g.115664099A>T | CA341763176 | VANGL1 | c.643A>T (p.Asn215Tyr) c.637A>T (p.Asn213Tyr) | |
| 1 | g.115664100A>C | CA341763177 | VANGL1 | c.644A>C (p.Asn215Thr) c.638A>C (p.Asn213Thr) | |
| 1 | g.115664100A>G | CA341763178 | VANGL1 | c.644A>G (p.Asn215Ser) c.638A>G (p.Asn213Ser) | |
| 1 | g.115664100A>T | CA341763179 | VANGL1 | c.644A>T (p.Asn215Ile) c.638A>T (p.Asn213Ile) | |
| 1 | g.115664101T>A | CA341763180 | VANGL1 | c.645T>A (p.Asn215Lys) c.639T>A (p.Asn213Lys) | gnomAD v4 |
| 1 | g.115664101T>C | CA420178191 | VANGL1 | c.645T>C (p.Asn215=) c.639T>C (p.Asn213=) | dbSNP |
| 1 | g.115664101T>G | CA341763181 | VANGL1 | c.645T>G (p.Asn215Lys) c.639T>G (p.Asn213Lys) | |
| 1 | g.115664101T= | CA1190697383 | VANGL1 | c.645T= (p.Asn215=) c.639T= (p.Asn213=) | |
| 1 | g.115664102T>A | CA341763184 | VANGL1 | c.646T>A (p.Tyr216Asn) c.640T>A (p.Tyr214Asn) | |
| 1 | g.115664102T>C | CA341763183 | VANGL1 | c.646T>C (p.Tyr216His) c.640T>C (p.Tyr214His) | |
| 1 | g.115664102T>G | CA341763182 | VANGL1 | c.646T>G (p.Tyr216Asp) c.640T>G (p.Tyr214Asp) | |
| 1 | g.115664103A>C | CA341763185 | VANGL1 | c.647A>C (p.Tyr216Ser) c.641A>C (p.Tyr214Ser) | |
| 1 | g.115664103A>G | CA341763187 | VANGL1 | c.647A>G (p.Tyr216Cys) c.641A>G (p.Tyr214Cys) | |
| 1 | g.115664103A>T | CA341763186 | VANGL1 | c.647A>T (p.Tyr216Phe) c.641A>T (p.Tyr214Phe) | |
| 1 | g.115664104C>A | CA341763188 | VANGL1 | c.648C>A (p.Tyr216Ter) c.642C>A (p.Tyr214Ter) | |
| 1 | g.115664104C>G | CA341763189 | VANGL1 | c.648C>G (p.Tyr216Ter) c.642C>G (p.Tyr214Ter) | |
| 1 | g.115664104C>T | CA420178192 | VANGL1 | c.648C>T (p.Tyr216=) c.642C>T (p.Tyr214=) | |
| 1 | g.115664105C>A | CA341763190 | VANGL1 | c.649C>A (p.Gln217Lys) c.643C>A (p.Gln215Lys) | |
| 1 | g.115664105C= | CA1143924531 | VANGL1 | c.649C= (p.Gln217=) c.643C= (p.Gln215=) | |
| 1 | g.115664105C>G | CA1023290 | VANGL1 | c.649C>G (p.Gln217Glu) c.643C>G (p.Gln215Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115664105C>T | CA341763191 | VANGL1 | c.649C>T (p.Gln217Ter) c.643C>T (p.Gln215Ter) | |
| 1 | g.115664106A>C | CA341763192 | VANGL1 | c.650A>C (p.Gln217Pro) c.644A>C (p.Gln215Pro) | |
| 1 | g.115664106A>G | CA341763193 | VANGL1 | c.650A>G (p.Gln217Arg) c.644A>G (p.Gln215Arg) | |
| 1 | g.115664106A>T | CA341763194 | VANGL1 | c.650A>T (p.Gln217Leu) c.644A>T (p.Gln215Leu) | |
| 1 | g.115664107G>A | CA420178193 | VANGL1 | c.651G>A (p.Gln217=) c.645G>A (p.Gln215=) | |
| 1 | g.115664107G>C | CA1023291 | VANGL1 | c.651G>C (p.Gln217His) c.645G>C (p.Gln215His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115664107G= | CA1190697384 | VANGL1 | c.651G= (p.Gln217=) c.645G= (p.Gln215=) | |
| 1 | g.115664107G>T | CA341763195 | VANGL1 | c.651G>T (p.Gln217His) c.645G>T (p.Gln215His) | |
| 1 | g.115664108G>A | CA341763196 | VANGL1 | c.652G>A (p.Gly218Ser) c.646G>A (p.Gly216Ser) | |
| 1 | g.115664108G>C | CA341763197 | VANGL1 | c.652G>C (p.Gly218Arg) c.646G>C (p.Gly216Arg) | |
| 1 | g.115664108G>T | CA341763198 | VANGL1 | c.652G>T (p.Gly218Cys) c.646G>T (p.Gly216Cys) | |
| 1 | g.115664109G>A | CA341763199 | VANGL1 | c.653G>A (p.Gly218Asp) c.647G>A (p.Gly216Asp) | |
| 1 | g.115664109G>C | CA341763201 | VANGL1 | c.653G>C (p.Gly218Ala) c.647G>C (p.Gly216Ala) | |
| 1 | g.115664109G>T | CA341763200 | VANGL1 | c.653G>T (p.Gly218Val) c.647G>T (p.Gly216Val) | |
| 1 | g.115664110C>A | CA420178194 | VANGL1 | c.654C>A (p.Gly218=) c.648C>A (p.Gly216=) | |
| 1 | g.115664110C= | CA1190697385 | VANGL1 | c.654C= (p.Gly218=) c.648C= (p.Gly216=) | |
| 1 | g.115664110C>G | CA420178195 | VANGL1 | c.654C>G (p.Gly218=) c.648C>G (p.Gly216=) | |
| 1 | g.115664110C>T | CA420178196 | VANGL1 | c.654C>T (p.Gly218=) c.648C>T (p.Gly216=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.115664111A>C | CA341763202 | VANGL1 | c.655A>C (p.Ile219Leu) c.649A>C (p.Ile217Leu) | |
| 1 | g.115664111A>G | CA341763203 | VANGL1 | c.655A>G (p.Ile219Val) c.649A>G (p.Ile217Val) | |
| 1 | g.115664111A>T | CA341763204 | VANGL1 | c.655A>T (p.Ile219Phe) c.649A>T (p.Ile217Phe) | |
| 1 | g.115664112T>A | CA341763205 | VANGL1 | c.656T>A (p.Ile219Asn) c.650T>A (p.Ile217Asn) | |
| 1 | g.115664112T>C | CA341763206 | VANGL1 | c.656T>C (p.Ile219Thr) c.650T>C (p.Ile217Thr) | |
| 1 | g.115664112T>G | CA341763207 | VANGL1 | c.656T>G (p.Ile219Ser) c.650T>G (p.Ile217Ser) | |
| 1 | g.115664113T>A | CA420178197 | VANGL1 | c.657T>A (p.Ile219=) c.651T>A (p.Ile217=) | |
| 1 | g.115664113T>C | CA420178198 | VANGL1 | c.657T>C (p.Ile219=) c.651T>C (p.Ile217=) | |
| 1 | g.115664113T>G | CA341763208 | VANGL1 | c.657T>G (p.Ile219Met) c.651T>G (p.Ile217Met) | |
| 1 | g.115664114G>A | CA341763209 | VANGL1 | c.658G>A (p.Val220Met) c.652G>A (p.Val218Met) | gnomAD v4 |
| 1 | g.115664114G>C | CA341763210 | VANGL1 | c.658G>C (p.Val220Leu) c.652G>C (p.Val218Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.115664114G= | CA1190697386 | VANGL1 | c.658G= (p.Val220=) c.652G= (p.Val218=) | |
| 1 | g.115664114G>T | CA341763211 | VANGL1 | c.658G>T (p.Val220Leu) c.652G>T (p.Val218Leu) | |
| 1 | g.115664115T>A | CA341763214 | VANGL1 | c.659T>A (p.Val220Glu) c.653T>A (p.Val218Glu) | |
| 1 | g.115664115T>C | CA341763213 | VANGL1 | c.659T>C (p.Val220Ala) c.653T>C (p.Val218Ala) | |
| 1 | g.115664115T>G | CA341763212 | VANGL1 | c.659T>G (p.Val220Gly) c.653T>G (p.Val218Gly) | |
| 1 | g.115664116G>A | CA420178201 | VANGL1 | c.660G>A (p.Val220=) c.654G>A (p.Val218=) | |
| 1 | g.115664116G>C | CA420178199 | VANGL1 | c.660G>C (p.Val220=) c.654G>C (p.Val218=) | |
| 1 | g.115664116G>T | CA420178200 | VANGL1 | c.660G>T (p.Val220=) c.654G>T (p.Val218=) | |
| 1 | g.115664117C>A | CA341763219 | VANGL1 | c.661C>A (p.Gln221Lys) c.655C>A (p.Gln219Lys) | |
| 1 | g.115664117C>G | CA341763215 | VANGL1 | c.661C>G (p.Gln221Glu) c.655C>G (p.Gln219Glu) | |
| 1 | g.115664117C>T | CA341763217 | VANGL1 | c.661C>T (p.Gln221Ter) c.655C>T (p.Gln219Ter) | |
| 1 | g.115664118A>C | CA341763220 | VANGL1 | c.662A>C (p.Gln221Pro) c.656A>C (p.Gln219Pro) | |
| 1 | g.115664118A>G | CA341763222 | VANGL1 | c.662A>G (p.Gln221Arg) c.656A>G (p.Gln219Arg) | gnomAD v4 |
| 1 | g.115664118A>T | CA341763223 | VANGL1 | c.662A>T (p.Gln221Leu) c.656A>T (p.Gln219Leu) | |
| 1 | g.115664119A= | CA1190697387 | VANGL1 | c.663A= (p.Gln221=) c.657A= (p.Gln219=) | |
| 1 | g.115664119A>C | CA341763225 | VANGL1 | c.663A>C (p.Gln221His) c.657A>C (p.Gln219His) | |
| 1 | g.115664119A>G | CA1023292 | VANGL1 | c.663A>G (p.Gln221=) c.657A>G (p.Gln219=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115664119A>T | CA341763227 | VANGL1 | c.663A>T (p.Gln221His) c.657A>T (p.Gln219His) | |
| 1 | g.115664120T>A | CA341763228 | VANGL1 | c.664T>A (p.Tyr222Asn) c.658T>A (p.Tyr220Asn) | |
| 1 | g.115664120T>C | CA341763230 | VANGL1 | c.664T>C (p.Tyr222His) c.658T>C (p.Tyr220His) | |
| 1 | g.115664120T>G | CA341763231 | VANGL1 | c.664T>G (p.Tyr222Asp) c.658T>G (p.Tyr220Asp) | |
| 1 | g.115664121_115664127del | CA2647278932 | VANGL1 | c.665_671del (p.Tyr222SerfsTer?) c.659_665del (p.Tyr220SerfsTer?) | gnomAD v4 |
| 1 | g.115664121A>C | CA341763233 | VANGL1 | c.665A>C (p.Tyr222Ser) c.659A>C (p.Tyr220Ser) | |
| 1 | g.115664121A>G | CA341763235 | VANGL1 | c.665A>G (p.Tyr222Cys) c.659A>G (p.Tyr220Cys) | |
| 1 | g.115664121A>T | CA341763236 | VANGL1 | c.665A>T (p.Tyr222Phe) c.659A>T (p.Tyr220Phe) | |
| 1 | g.115664122T>A | CA341763238 | VANGL1 | c.666T>A (p.Tyr222Ter) c.660T>A (p.Tyr220Ter) | |
| 1 | g.115664122T>C | CA420178202 | VANGL1 | c.666T>C (p.Tyr222=) c.660T>C (p.Tyr220=) | dbSNP |
| 1 | g.115664122T>G | CA341763239 | VANGL1 | c.666T>G (p.Tyr222Ter) c.660T>G (p.Tyr220Ter) | |
| 1 | g.115664122T= | CA1190697388 | VANGL1 | c.666T= (p.Tyr222=) c.660T= (p.Tyr220=) | |
| 1 | g.115664123G>A | CA341763241 | VANGL1 | c.667G>A (p.Ala223Thr) c.661G>A (p.Ala221Thr) | |
| 1 | g.115664123G>C | CA341763243 | VANGL1 | c.667G>C (p.Ala223Pro) c.661G>C (p.Ala221Pro) | |
| 1 | g.115664123G>T | CA341763245 | VANGL1 | c.667G>T (p.Ala223Ser) c.661G>T (p.Ala221Ser) | |
| 1 | g.115664124C>A | CA341763246 | VANGL1 | c.668C>A (p.Ala223Glu) c.662C>A (p.Ala221Glu) | |
| 1 | g.115664124C>G | CA341763247 | VANGL1 | c.668C>G (p.Ala223Gly) c.662C>G (p.Ala221Gly) | |
| 1 | g.115664124C>T | CA341763249 | VANGL1 | c.668C>T (p.Ala223Val) c.662C>T (p.Ala221Val) | |
| 1 | g.115664125A= | CA1190697389 | VANGL1 | c.669A= (p.Ala223=) c.663A= (p.Ala221=) | |
| 1 | g.115664125A>C | CA420178203 | VANGL1 | c.669A>C (p.Ala223=) c.663A>C (p.Ala221=) | dbSNP |
| 1 | g.115664125A>G | CA1023293 | VANGL1 | c.669A>G (p.Ala223=) c.663A>G (p.Ala221=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115664125A>T | CA420178204 | VANGL1 | c.669A>T (p.Ala223=) c.663A>T (p.Ala221=) | |
| 1 | g.115664126G>A | CA341763252 | VANGL1 | c.670G>A (p.Val224Ile) c.664G>A (p.Val222Ile) | |
| 1 | g.115664126G>C | CA341763253 | VANGL1 | c.670G>C (p.Val224Leu) c.664G>C (p.Val222Leu) | |
| 1 | g.115664126G>T | CA341763255 | VANGL1 | c.670G>T (p.Val224Phe) c.664G>T (p.Val222Phe) | |
| 1 | g.115664127T>A | CA341763257 | VANGL1 | c.671T>A (p.Val224Asp) c.665T>A (p.Val222Asp) | |
| 1 | g.115664127T>C | CA341763258 | VANGL1 | c.671T>C (p.Val224Ala) c.665T>C (p.Val222Ala) | |
| 1 | g.115664127T>G | CA341763259 | VANGL1 | c.671T>G (p.Val224Gly) c.665T>G (p.Val222Gly) | |
| 1 | g.115664128C>A | CA420178205 | VANGL1 | c.672C>A (p.Val224=) c.666C>A (p.Val222=) | |
| 1 | g.115664128C>G | CA420178206 | VANGL1 | c.672C>G (p.Val224=) c.666C>G (p.Val222=) | |
| 1 | g.115664128C>T | CA420178207 | VANGL1 | c.672C>T (p.Val224=) c.666C>T (p.Val222=) | |
| 1 | g.115664129T>A | CA341763263 | VANGL1 | c.673T>A (p.Ser225Thr) c.667T>A (p.Ser223Thr) | |
| 1 | g.115664129T>C | CA341763264 | VANGL1 | c.673T>C (p.Ser225Pro) c.667T>C (p.Ser223Pro) | |
| 1 | g.115664129T>G | CA341763261 | VANGL1 | c.673T>G (p.Ser225Ala) c.667T>G (p.Ser223Ala) | |
| 1 | g.115664130C>A | CA341763266 | VANGL1 | c.674C>A (p.Ser225Tyr) c.668C>A (p.Ser223Tyr) | |
| 1 | g.115664130C>G | CA341763269 | VANGL1 | c.674C>G (p.Ser225Cys) c.668C>G (p.Ser223Cys) | |
| 1 | g.115664130C>T | CA341763267 | VANGL1 | c.674C>T (p.Ser225Phe) c.668C>T (p.Ser223Phe) | |
| 1 | g.115664131C>A | CA420177908 | VANGL1 | c.675C>A (p.Ser225=) c.669C>A (p.Ser223=) | |
| 1 | g.115664131C= | CA1190697390 | VANGL1 | c.675C= (p.Ser225=) c.669C= (p.Ser223=) | |
| 1 | g.115664131C>G | CA420177909 | VANGL1 | c.675C>G (p.Ser225=) c.669C>G (p.Ser223=) | |
| 1 | g.115664131C>T | CA1023294 | VANGL1 | c.675C>T (p.Ser225=) c.669C>T (p.Ser223=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115664132C>A | CA341763272 | VANGL1 | c.676C>A (p.Leu226Ile) c.670C>A (p.Leu224Ile) | |
| 1 | g.115664132C= | CA1190697391 | VANGL1 | c.676C= (p.Leu226=) c.670C= (p.Leu224=) | |
| 1 | g.115664132C>G | CA341763273 | VANGL1 | c.676C>G (p.Leu226Val) c.670C>G (p.Leu224Val) | |
| 1 | g.115664132C>T | CA1023295 | VANGL1 | c.676C>T (p.Leu226Phe) c.670C>T (p.Leu224Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115664133T>A | CA341763275 | VANGL1 | c.677T>A (p.Leu226His) c.671T>A (p.Leu224His) | |
| 1 | g.115664133T>C | CA341763277 | VANGL1 | c.677T>C (p.Leu226Pro) c.671T>C (p.Leu224Pro) | dbSNP |
| 1 | g.115664133T>G | CA341763278 | VANGL1 | c.677T>G (p.Leu226Arg) c.671T>G (p.Leu224Arg) | |
| 1 | g.115664133T= | CA1190697392 | VANGL1 | c.677T= (p.Leu226=) c.671T= (p.Leu224=) | |
| 1 | g.115664134del | CA2647278933 | VANGL1 | c.678del (p.Val227TrpfsTer?) c.672del (p.Val225TrpfsTer?) | gnomAD v4 |
| 1 | g.115664134T>A | CA420177911 | VANGL1 | c.678T>A (p.Leu226=) c.672T>A (p.Leu224=) | |
| 1 | g.115664134T>C | CA420177912 | VANGL1 | c.678T>C (p.Leu226=) c.672T>C (p.Leu224=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115664134T>G | CA420177913 | VANGL1 | c.678T>G (p.Leu226=) c.672T>G (p.Leu224=) | |
| 1 | g.115664134T= | CA1190697393 | VANGL1 | c.678T= (p.Leu226=) c.672T= (p.Leu224=) | |
| 1 | g.115664135G>A | CA341763280 | VANGL1 | c.679G>A (p.Val227Met) c.673G>A (p.Val225Met) | dbSNP gnomAD v4 |
| 1 | g.115664135G>C | CA341763282 | VANGL1 | c.679G>C (p.Val227Leu) c.673G>C (p.Val225Leu) | |
| 1 | g.115664135G= | CA1190697394 | VANGL1 | c.679G= (p.Val227=) c.673G= (p.Val225=) | |
| 1 | g.115664135G>T | CA341763283 | VANGL1 | c.679G>T (p.Val227Leu) c.673G>T (p.Val225Leu) | ClinVar |
| 1 | g.115664136T>A | CA341763289 | VANGL1 | c.680T>A (p.Val227Glu) c.674T>A (p.Val225Glu) | |
| 1 | g.115664136T>C | CA341763287 | VANGL1 | c.680T>C (p.Val227Ala) c.674T>C (p.Val225Ala) | dbSNP |
| 1 | g.115664136T>G | CA341763286 | VANGL1 | c.680T>G (p.Val227Gly) c.674T>G (p.Val225Gly) | |
| 1 | g.115664136T= | CA1190697395 | VANGL1 | c.680T= (p.Val227=) c.674T= (p.Val225=) | |
| 1 | g.115664137G>A | CA1023296 | VANGL1 | c.681G>A (p.Val227=) c.675G>A (p.Val225=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115664137G>C | CA420177918 | VANGL1 | c.681G>C (p.Val227=) c.675G>C (p.Val225=) | |
| 1 | g.115664137G= | CA1143500184 | VANGL1 | c.681G= (p.Val227=) c.675G= (p.Val225=) | |
| 1 | g.115664137G>T | CA420177917 | VANGL1 | c.681G>T (p.Val227=) c.675G>T (p.Val225=) | dbSNP |
| 1 | g.115664138G>A | CA341763291 | VANGL1 | c.682G>A (p.Asp228Asn) c.676G>A (p.Asp226Asn) | COSMIC |
| 1 | g.115664138G>C | CA341763293 | VANGL1 | c.682G>C (p.Asp228His) c.676G>C (p.Asp226His) | COSMIC |
| 1 | g.115664138G>T | CA341763294 | VANGL1 | c.682G>T (p.Asp228Tyr) c.676G>T (p.Asp226Tyr) | gnomAD v4 |
| 1 | g.115664139A= | CA1190697396 | VANGL1 | c.683A= (p.Asp228=) c.677A= (p.Asp226=) | |
| 1 | g.115664139A>C | CA341763295 | VANGL1 | c.683A>C (p.Asp228Ala) c.677A>C (p.Asp226Ala) | |
| 1 | g.115664139A>G | CA341763297 | VANGL1 | c.683A>G (p.Asp228Gly) c.677A>G (p.Asp226Gly) | |
| 1 | g.115664139A>T | CA341763298 | VANGL1 | c.683A>T (p.Asp228Val) c.677A>T (p.Asp226Val) | |
| 1 | g.115664139_115664140insAAAAAAG | CA525631192 | VANGL1 | c.683_684insAAAAAAG (p.Asp228GlufsTer?) c.677_678insAAAAAAG (p.Asp226GlufsTer?) | dbSNP gnomAD v2 |
| 1 | g.115664140T>A | CA341763300 | VANGL1 | c.684T>A (p.Asp228Glu) c.678T>A (p.Asp226Glu) | |
| 1 | g.115664140T>C | CA420177922 | VANGL1 | c.684T>C (p.Asp228=) c.678T>C (p.Asp226=) | |
| 1 | g.115664140T>G | CA341763301 | VANGL1 | c.684T>G (p.Asp228Glu) c.678T>G (p.Asp226Glu) | |
| 1 | g.115664141G>A | CA29619892 | VANGL1 | c.685G>A (p.Ala229Thr) c.679G>A (p.Ala227Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.115664141G>C | CA341763303 | VANGL1 | c.685G>C (p.Ala229Pro) c.679G>C (p.Ala227Pro) | |
| 1 | g.115664141G= | CA1141961167 | VANGL1 | c.685G= (p.Ala229=) c.679G= (p.Ala227=) | |
| 1 | g.115664141G>T | CA341763304 | VANGL1 | c.685G>T (p.Ala229Ser) c.679G>T (p.Ala227Ser) | |
| 1 | g.115664142C>A | CA341763308 | VANGL1 | c.686C>A (p.Ala229Asp) c.680C>A (p.Ala227Asp) | |
| 1 | g.115664142C= | CA1190697397 | VANGL1 | c.686C= (p.Ala229=) c.680C= (p.Ala227=) | |
| 1 | g.115664142C>G | CA341763309 | VANGL1 | c.686C>G (p.Ala229Gly) c.680C>G (p.Ala227Gly) | dbSNP |
| 1 | g.115664142C>T | CA341763306 | VANGL1 | c.686C>T (p.Ala229Val) c.680C>T (p.Ala227Val) | |
| 1 | g.115664143C>A | CA420177924 | VANGL1 | c.687C>A (p.Ala229=) c.681C>A (p.Ala227=) | |
| 1 | g.115664143C>G | CA420177926 | VANGL1 | c.687C>G (p.Ala229=) c.681C>G (p.Ala227=) | |
| 1 | g.115664143C>T | CA420177925 | VANGL1 | c.687C>T (p.Ala229=) c.681C>T (p.Ala227=) | |
| 1 | g.115664144C>A | CA341763311 | VANGL1 | c.688C>A (p.Leu230Ile) c.682C>A (p.Leu228Ile) | |
| 1 | g.115664144C= | CA1190697398 | VANGL1 | c.688C= (p.Leu230=) c.682C= (p.Leu228=) | |
| 1 | g.115664144C>G | CA1023297 | VANGL1 | c.688C>G (p.Leu230Val) c.682C>G (p.Leu228Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.115664144C>T | CA341763313 | VANGL1 | c.688C>T (p.Leu230Phe) c.682C>T (p.Leu228Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115664145T>A | CA341763314 | VANGL1 | c.689T>A (p.Leu230His) c.683T>A (p.Leu228His) | |
| 1 | g.115664145T>C | CA341763315 | VANGL1 | c.689T>C (p.Leu230Pro) c.683T>C (p.Leu228Pro) | |
| 1 | g.115664145T>G | CA341763317 | VANGL1 | c.689T>G (p.Leu230Arg) c.683T>G (p.Leu228Arg) | |
| 1 | g.115664146C>A | CA420177930 | VANGL1 | c.690C>A (p.Leu230=) c.684C>A (p.Leu228=) | |
| 1 | g.115664146C= | CA1190697399 | VANGL1 | c.690C= (p.Leu230=) c.684C= (p.Leu228=) | |
| 1 | g.115664146C>G | CA420177931 | VANGL1 | c.690C>G (p.Leu230=) c.684C>G (p.Leu228=) | |
| 1 | g.115664146C>T | CA1023298 | VANGL1 | c.690C>T (p.Leu230=) c.684C>T (p.Leu228=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115664147C>A | CA341763319 | VANGL1 | c.691C>A (p.Leu231Ile) c.685C>A (p.Leu229Ile) | |
| 1 | g.115664147C>G | CA341763320 | VANGL1 | c.691C>G (p.Leu231Val) c.685C>G (p.Leu229Val) | |
| 1 | g.115664147C>T | CA341763322 | VANGL1 | c.691C>T (p.Leu231Phe) c.685C>T (p.Leu229Phe) | COSMIC |
| 1 | g.115664148T>A | CA341763324 | VANGL1 | c.692T>A (p.Leu231His) c.686T>A (p.Leu229His) | |
| 1 | g.115664148T>C | CA341763325 | VANGL1 | c.692T>C (p.Leu231Pro) c.686T>C (p.Leu229Pro) | |
| 1 | g.115664148T>G | CA341763327 | VANGL1 | c.692T>G (p.Leu231Arg) c.686T>G (p.Leu229Arg) | |
| 1 | g.115664149C>A | CA420177932 | VANGL1 | c.693C>A (p.Leu231=) c.687C>A (p.Leu229=) | |
| 1 | g.115664149C= | CA1190697400 | VANGL1 | c.693C= (p.Leu231=) c.687C= (p.Leu229=) | |
| 1 | g.115664149C>G | CA420177933 | VANGL1 | c.693C>G (p.Leu231=) c.687C>G (p.Leu229=) | dbSNP gnomAD v4 |
| 1 | g.115664149C>T | CA420177934 | VANGL1 | c.693C>T (p.Leu231=) c.687C>T (p.Leu229=) | |
| 1 | g.115664150T>A | CA341763331 | VANGL1 | c.694T>A (p.Phe232Ile) c.688T>A (p.Phe230Ile) | |
| 1 | g.115664150T>C | CA341763329 | VANGL1 | c.694T>C (p.Phe232Leu) c.688T>C (p.Phe230Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.115664150T>G | CA341763328 | VANGL1 | c.694T>G (p.Phe232Val) c.688T>G (p.Phe230Val) | |
| 1 | g.115664150T= | CA1190697401 | VANGL1 | c.694T= (p.Phe232=) c.688T= (p.Phe230=) | |
| 1 | g.115664151T>A | CA341763333 | VANGL1 | c.695T>A (p.Phe232Tyr) c.689T>A (p.Phe230Tyr) | |
| 1 | g.115664151T>C | CA341763335 | VANGL1 | c.695T>C (p.Phe232Ser) c.689T>C (p.Phe230Ser) | |
| 1 | g.115664151T>G | CA341763336 | VANGL1 | c.695T>G (p.Phe232Cys) c.689T>G (p.Phe230Cys) | |
| 1 | g.115664152C>A | CA341763337 | VANGL1 | c.696C>A (p.Phe232Leu) c.690C>A (p.Phe230Leu) | |
| 1 | g.115664152C>G | CA341763339 | VANGL1 | c.696C>G (p.Phe232Leu) c.690C>G (p.Phe230Leu) | |
| 1 | g.115664152C>T | CA420177935 | VANGL1 | c.696C>T (p.Phe232=) c.690C>T (p.Phe230=) | COSMIC |
| 1 | g.115664153A= | CA1148295175 | VANGL1 | c.697A= (p.Ile233=) c.691A= (p.Ile231=) | |
| 1 | g.115664153A>C | CA341763340 | VANGL1 | c.697A>C (p.Ile233Leu) c.691A>C (p.Ile231Leu) | |
| 1 | g.115664153A>G | CA1023299 | VANGL1 | c.697A>G (p.Ile233Val) c.691A>G (p.Ile231Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115664153A>T | CA341763343 | VANGL1 | c.697A>T (p.Ile233Phe) c.691A>T (p.Ile231Phe) | gnomAD v4 |
| 1 | g.115664154T>A | CA341763344 | VANGL1 | c.698T>A (p.Ile233Asn) c.692T>A (p.Ile231Asn) | |
| 1 | g.115664154T>C | CA341763346 | VANGL1 | c.698T>C (p.Ile233Thr) c.692T>C (p.Ile231Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115664154T>G | CA341763347 | VANGL1 | c.698T>G (p.Ile233Ser) c.692T>G (p.Ile231Ser) | |
| 1 | g.115664154T= | CA1190697402 | VANGL1 | c.698T= (p.Ile233=) c.692T= (p.Ile231=) | |
| 1 | g.115664155C>A | CA420177939 | VANGL1 | c.699C>A (p.Ile233=) c.693C>A (p.Ile231=) | |
| 1 | g.115664155C= | CA1190697403 | VANGL1 | c.699C= (p.Ile233=) c.693C= (p.Ile231=) | |
| 1 | g.115664155C>G | CA341763349 | VANGL1 | c.699C>G (p.Ile233Met) c.693C>G (p.Ile231Met) | |
| 1 | g.115664155C>T | CA420177940 | VANGL1 | c.699C>T (p.Ile233=) c.693C>T (p.Ile231=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115664156C>A | CA341763353 | VANGL1 | c.700C>A (p.His234Asn) c.694C>A (p.His232Asn) | |
| 1 | g.115664156C= | CA1190697404 | VANGL1 | c.700C= (p.His234=) c.694C= (p.His232=) | |
| 1 | g.115664156C>G | CA341763352 | VANGL1 | c.700C>G (p.His234Asp) c.694C>G (p.His232Asp) | |
| 1 | g.115664156C>T | CA341763351 | VANGL1 | c.700C>T (p.His234Tyr) c.694C>T (p.His232Tyr) | dbSNP |
| 1 | g.115664157A>C | CA341763356 | VANGL1 | c.701A>C (p.His234Pro) c.695A>C (p.His232Pro) | |
| 1 | g.115664157A>G | CA341763359 | VANGL1 | c.701A>G (p.His234Arg) c.695A>G (p.His232Arg) | COSMIC |
| 1 | g.115664157A>T | CA341763357 | VANGL1 | c.701A>T (p.His234Leu) c.695A>T (p.His232Leu) | |
| 1 | g.115664158T>A | CA341763360 | VANGL1 | c.702T>A (p.His234Gln) c.696T>A (p.His232Gln) | |
| 1 | g.115664158T>C | CA420177942 | VANGL1 | c.702T>C (p.His234=) c.696T>C (p.His232=) | |
| 1 | g.115664158T>G | CA341763361 | VANGL1 | c.702T>G (p.His234Gln) c.696T>G (p.His232Gln) | |
| 1 | g.115664159T>A | CA341763363 | VANGL1 | c.703T>A (p.Tyr235Asn) c.697T>A (p.Tyr233Asn) | |
| 1 | g.115664159T>C | CA341763365 | VANGL1 | c.703T>C (p.Tyr235His) c.697T>C (p.Tyr233His) | |
| 1 | g.115664159T>G | CA341763364 | VANGL1 | c.703T>G (p.Tyr235Asp) c.697T>G (p.Tyr233Asp) | |
| 1 | g.115664160A= | CA1190697405 | VANGL1 | c.704A= (p.Tyr235=) c.698A= (p.Tyr233=) | |
| 1 | g.115664160A>C | CA341763367 | VANGL1 | c.704A>C (p.Tyr235Ser) c.698A>C (p.Tyr233Ser) | |
| 1 | g.115664160A>G | CA341763369 | VANGL1 | c.704A>G (p.Tyr235Cys) c.698A>G (p.Tyr233Cys) | dbSNP |
| 1 | g.115664160A>T | CA341763370 | VANGL1 | c.704A>T (p.Tyr235Phe) c.698A>T (p.Tyr233Phe) | |
| 1 | g.115664161C>A | CA341763372 | VANGL1 | c.705C>A (p.Tyr235Ter) c.699C>A (p.Tyr233Ter) | |
| 1 | g.115664161C= | CA1190697406 | VANGL1 | c.705C= (p.Tyr235=) c.699C= (p.Tyr233=) | |
| 1 | g.115664161C>G | CA341763373 | VANGL1 | c.705C>G (p.Tyr235Ter) c.699C>G (p.Tyr233Ter) | |
| 1 | g.115664161C>T | CA1023300 | VANGL1 | c.705C>T (p.Tyr235=) c.699C>T (p.Tyr233=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115664162C>A | CA341763377 | VANGL1 | c.706C>A (p.Leu236Met) c.700C>A (p.Leu234Met) | COSMIC |
| 1 | g.115664162C>G | CA341763375 | VANGL1 | c.706C>G (p.Leu236Val) c.700C>G (p.Leu234Val) | |
| 1 | g.115664162C>T | CA420177945 | VANGL1 | c.706C>T (p.Leu236=) c.700C>T (p.Leu234=) | |
| 1 | g.115664163T>A | CA341763379 | VANGL1 | c.707T>A (p.Leu236Gln) c.701T>A (p.Leu234Gln) | dbSNP |
| 1 | g.115664163T>C | CA341763380 | VANGL1 | c.707T>C (p.Leu236Pro) c.701T>C (p.Leu234Pro) | |
| 1 | g.115664163T>G | CA341763382 | VANGL1 | c.707T>G (p.Leu236Arg) c.701T>G (p.Leu234Arg) | |
| 1 | g.115664163T= | CA1190697407 | VANGL1 | c.707T= (p.Leu236=) c.701T= (p.Leu234=) | |
| 1 | g.115664164G>A | CA420177946 | VANGL1 | c.708G>A (p.Leu236=) c.702G>A (p.Leu234=) | |
| 1 | g.115664164G>C | CA420177948 | VANGL1 | c.708G>C (p.Leu236=) c.702G>C (p.Leu234=) | |
| 1 | g.115664164G>T | CA420177947 | VANGL1 | c.708G>T (p.Leu236=) c.702G>T (p.Leu234=) | |
| 1 | g.115664165G>A | CA341763383 | VANGL1 | c.709G>A (p.Ala237Thr) c.703G>A (p.Ala235Thr) | |
| 1 | g.115664165G>C | CA341763385 | VANGL1 | c.709G>C (p.Ala237Pro) c.703G>C (p.Ala235Pro) | |
| 1 | g.115664165G>T | CA341763386 | VANGL1 | c.709G>T (p.Ala237Ser) c.703G>T (p.Ala235Ser) | |
| 1 | g.115664166C>A | CA341763388 | VANGL1 | c.710C>A (p.Ala237Asp) c.704C>A (p.Ala235Asp) | |
| 1 | g.115664166C>G | CA341763391 | VANGL1 | c.710C>G (p.Ala237Gly) c.704C>G (p.Ala235Gly) | |
| 1 | g.115664166C>T | CA341763390 | VANGL1 | c.710C>T (p.Ala237Val) c.704C>T (p.Ala235Val) | |
| 1 | g.115664167C>A | CA420177951 | VANGL1 | c.711C>A (p.Ala237=) c.705C>A (p.Ala235=) | |
| 1 | g.115664167C>G | CA420177952 | VANGL1 | c.711C>G (p.Ala237=) c.705C>G (p.Ala235=) | gnomAD v4 |
| 1 | g.115664167C>T | CA420177953 | VANGL1 | c.711C>T (p.Ala237=) c.705C>T (p.Ala235=) | |
| 1 | g.115664168A= | CA1190697408 | VANGL1 | c.712A= (p.Ile238=) c.706A= (p.Ile236=) | |
| 1 | g.115664168A>C | CA341763393 | VANGL1 | c.712A>C (p.Ile238Leu) c.706A>C (p.Ile236Leu) | |
| 1 | g.115664168A>G | CA1023301 | VANGL1 | c.712A>G (p.Ile238Val) c.706A>G (p.Ile236Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115664168A>T | CA341763395 | VANGL1 | c.712A>T (p.Ile238Phe) c.706A>T (p.Ile236Phe) | gnomAD v4 |
| 1 | g.115664169T>A | CA341763396 | VANGL1 | c.713T>A (p.Ile238Asn) c.707T>A (p.Ile236Asn) | COSMIC |
| 1 | g.115664169T>C | CA341763398 | VANGL1 | c.713T>C (p.Ile238Thr) c.707T>C (p.Ile236Thr) | |
| 1 | g.115664169T>G | CA341763400 | VANGL1 | c.713T>G (p.Ile238Ser) c.707T>G (p.Ile236Ser) | |
| 1 | g.115664170C>A | CA420177954 | VANGL1 | c.714C>A (p.Ile238=) c.708C>A (p.Ile236=) | |
| 1 | g.115664170C= | CA1144129054 | VANGL1 | c.714C= (p.Ile238=) c.708C= (p.Ile236=) | |
| 1 | g.115664170C>G | CA341763402 | VANGL1 | c.714C>G (p.Ile238Met) c.708C>G (p.Ile236Met) | |
| 1 | g.115664170C>T | CA1023302 | VANGL1 | c.714C>T (p.Ile238=) c.708C>T (p.Ile236=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115664170_115664171insTG | CA2647278934 | VANGL1 | c.714_715insTG (p.Val239TrpfsTer?) c.708_709insTG (p.Val237TrpfsTer?) | gnomAD v4 |
| 1 | g.115664171G>A | CA114939 | VANGL1 | c.715G>A (p.Val239Ile) c.709G>A (p.Val237Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115664171G>C | CA341763404 | VANGL1 | c.715G>C (p.Val239Leu) c.709G>C (p.Val237Leu) | |
| 1 | g.115664171G= | CA1141581004 | VANGL1 | c.715G= (p.Val239=) c.709G= (p.Val237=) | |
| 1 | g.115664171G>T | CA341763406 | VANGL1 | c.715G>T (p.Val239Phe) c.709G>T (p.Val237Phe) | |
| 1 | g.115664172T>A | CA341763408 | VANGL1 | c.716T>A (p.Val239Asp) c.710T>A (p.Val237Asp) | |
| 1 | g.115664172T>C | CA341763411 | VANGL1 | c.716T>C (p.Val239Ala) c.710T>C (p.Val237Ala) | |
| 1 | g.115664172T>G | CA341763410 | VANGL1 | c.716T>G (p.Val239Gly) c.710T>G (p.Val237Gly) | |
| 1 | g.115664172_115664173insAATGG | CA2647278935 | VANGL1 | c.716_717insAATGG (p.Leu240MetfsTer?) c.710_711insAATGG (p.Leu238MetfsTer?) | gnomAD v4 |
| 1 | g.115664173C>A | CA420177956 | VANGL1 | c.717C>A (p.Val239=) c.711C>A (p.Val237=) | |
| 1 | g.115664173C>G | CA420177957 | VANGL1 | c.717C>G (p.Val239=) c.711C>G (p.Val237=) | |
| 1 | g.115664173C>T | CA420177958 | VANGL1 | c.717C>T (p.Val239=) c.711C>T (p.Val237=) | |
| 1 | g.115664174C>A | CA341763413 | VANGL1 | c.718C>A (p.Leu240Met) c.712C>A (p.Leu238Met) | |
| 1 | g.115664174C>G | CA341763415 | VANGL1 | c.718C>G (p.Leu240Val) c.712C>G (p.Leu238Val) | |
| 1 | g.115664174C>T | CA420177960 | VANGL1 | c.718C>T (p.Leu240=) c.712C>T (p.Leu238=) | gnomAD v4 |
| 1 | g.115664175T>A | CA341763416 | VANGL1 | c.719T>A (p.Leu240Gln) c.713T>A (p.Leu238Gln) | |
| 1 | g.115664175T>C | CA341763417 | VANGL1 | c.719T>C (p.Leu240Pro) c.713T>C (p.Leu238Pro) | |
| 1 | g.115664175T>G | CA341763418 | VANGL1 | c.719T>G (p.Leu240Arg) c.713T>G (p.Leu238Arg) |