| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.69419737_69419739del | CA2674131175 | MARVELD2 | c.352_354del (p.Pro118del) | gnomAD v4 |
| 5 | g.69419739A>C | CA445083314 | MARVELD2 | c.354A>C (p.Pro118=) | gnomAD v4 |
| 5 | g.69419739A>G | CA445083316 | MARVELD2 | c.354A>G (p.Pro118=) | gnomAD v4 |
| 5 | g.69419739A>T | CA445083318 | MARVELD2 | c.354A>T (p.Pro118=) | |
| 5 | g.69419740G>A | CA359923193 | MARVELD2 | c.355G>A (p.Ala119Thr) | |
| 5 | g.69419740G>C | CA359923194 | MARVELD2 | c.355G>C (p.Ala119Pro) | |
| 5 | g.69419740G= | CA1553916124 | MARVELD2 | c.355G= (p.Ala119=) | |
| 5 | g.69419740G>T | CA359923195 | MARVELD2 | c.355G>T (p.Ala119Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69419741C>A | CA359923198 | MARVELD2 | c.356C>A (p.Ala119Asp) | |
| 5 | g.69419741C= | CA1553916127 | MARVELD2 | c.356C= (p.Ala119=) | |
| 5 | g.69419741C>G | CA359923197 | MARVELD2 | c.356C>G (p.Ala119Gly) | |
| 5 | g.69419741C>T | CA359923196 | MARVELD2 | c.356C>T (p.Ala119Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419742C>A | CA445083324 | MARVELD2 | c.357C>A (p.Ala119=) | |
| 5 | g.69419742C= | CA1553916130 | MARVELD2 | c.357C= (p.Ala119=) | |
| 5 | g.69419742C>G | CA3294029 | MARVELD2 | c.357C>G (p.Ala119=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419742C>T | CA445083323 | MARVELD2 | c.357C>T (p.Ala119=) | gnomAD v4 |
| 5 | g.69419743T>A | CA359923201 | MARVELD2 | c.358T>A (p.Ser120Thr) | |
| 5 | g.69419743T>C | CA359923199 | MARVELD2 | c.358T>C (p.Ser120Pro) | |
| 5 | g.69419743T>G | CA359923200 | MARVELD2 | c.358T>G (p.Ser120Ala) | |
| 5 | g.69419744C>A | CA359923202 | MARVELD2 | c.359C>A (p.Ser120Tyr) | |
| 5 | g.69419744C= | CA1553916134 | MARVELD2 | c.359C= (p.Ser120=) | |
| 5 | g.69419744C>G | CA359923203 | MARVELD2 | c.359C>G (p.Ser120Cys) | |
| 5 | g.69419744C>T | CA359923204 | MARVELD2 | c.359C>T (p.Ser120Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419745T>A | CA445083331 | MARVELD2 | c.360T>A (p.Ser120=) | gnomAD v4 |
| 5 | g.69419745T>C | CA445083330 | MARVELD2 | c.360T>C (p.Ser120=) | |
| 5 | g.69419745T>G | CA445083328 | MARVELD2 | c.360T>G (p.Ser120=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419745T= | CA1553916135 | MARVELD2 | c.360T= (p.Ser120=) | |
| 5 | g.69419746C>A | CA359923207 | MARVELD2 | c.361C>A (p.Pro121Thr) | |
| 5 | g.69419746C>G | CA359923206 | MARVELD2 | c.361C>G (p.Pro121Ala) | |
| 5 | g.69419746C>T | CA359923205 | MARVELD2 | c.361C>T (p.Pro121Ser) | gnomAD v4 |
| 5 | g.69419747C>A | CA359923208 | MARVELD2 | c.362C>A (p.Pro121Gln) | |
| 5 | g.69419747C>G | CA359923209 | MARVELD2 | c.362C>G (p.Pro121Arg) | |
| 5 | g.69419747C>T | CA359923210 | MARVELD2 | c.362C>T (p.Pro121Leu) | gnomAD v4 |
| 5 | g.69419748A= | CA1553916138 | MARVELD2 | c.363A= (p.Pro121=) | |
| 5 | g.69419748A>C | CA445083335 | MARVELD2 | c.363A>C (p.Pro121=) | ClinVar dbSNP gnomAD v2 |
| 5 | g.69419748A>G | CA445083338 | MARVELD2 | c.363A>G (p.Pro121=) | |
| 5 | g.69419748A>T | CA445083336 | MARVELD2 | c.363A>T (p.Pro121=) | |
| 5 | g.69419749G>A | CA182264 | MARVELD2 | c.364G>A (p.Ala122Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419749G>C | CA359923211 | MARVELD2 | c.364G>C (p.Ala122Pro) | |
| 5 | g.69419749G= | CA1553916144 | MARVELD2 | c.364G= (p.Ala122=) | |
| 5 | g.69419749G>T | CA359923212 | MARVELD2 | c.364G>T (p.Ala122Ser) | |
| 5 | g.69419750C>A | CA359923213 | MARVELD2 | c.365C>A (p.Ala122Glu) | |
| 5 | g.69419750C= | CA1553916150 | MARVELD2 | c.365C= (p.Ala122=) | |
| 5 | g.69419750C>G | CA359923215 | MARVELD2 | c.365C>G (p.Ala122Gly) | dbSNP |
| 5 | g.69419750C>T | CA359923214 | MARVELD2 | c.365C>T (p.Ala122Val) | |
| 5 | g.69419751A>C | CA445083345 | MARVELD2 | c.366A>C (p.Ala122=) | |
| 5 | g.69419751A>G | CA445083349 | MARVELD2 | c.366A>G (p.Ala122=) | |
| 5 | g.69419751A>T | CA445083350 | MARVELD2 | c.366A>T (p.Ala122=) | |
| 5 | g.69419752A>C | CA445083352 | MARVELD2 | c.367A>C (p.Arg123=) | |
| 5 | g.69419752A>G | CA359923216 | MARVELD2 | c.367A>G (p.Arg123Gly) | |
| 5 | g.69419752A>T | CA359923217 | MARVELD2 | c.367A>T (p.Arg123Ter) | |
| 5 | g.69419753G>A | CA359923218 | MARVELD2 | c.368G>A (p.Arg123Lys) | |
| 5 | g.69419753G>C | CA359923219 | MARVELD2 | c.368G>C (p.Arg123Thr) | gnomAD v4 |
| 5 | g.69419753G>T | CA359923220 | MARVELD2 | c.368G>T (p.Arg123Ile) | |
| 5 | g.69419754A= | CA1553916153 | MARVELD2 | c.369A= (p.Arg123=) | |
| 5 | g.69419754A>C | CA359923221 | MARVELD2 | c.369A>C (p.Arg123Ser) | |
| 5 | g.69419754A>G | CA445083358 | MARVELD2 | c.369A>G (p.Arg123=) | dbSNP |
| 5 | g.69419754A>T | CA359923222 | MARVELD2 | c.369A>T (p.Arg123Ser) | |
| 5 | g.69419755C>A | CA3294030 | MARVELD2 | c.370C>A (p.Pro124Thr) | dbSNP ExAC |
| 5 | g.69419755C= | CA1553916156 | MARVELD2 | c.370C= (p.Pro124=) | |
| 5 | g.69419755C>G | CA359923223 | MARVELD2 | c.370C>G (p.Pro124Ala) | |
| 5 | g.69419755C>T | CA359923224 | MARVELD2 | c.370C>T (p.Pro124Ser) | ClinVar |
| 5 | g.69419756C>A | CA359923227 | MARVELD2 | c.371C>A (p.Pro124Gln) | |
| 5 | g.69419756C= | CA1553916159 | MARVELD2 | c.371C= (p.Pro124=) | |
| 5 | g.69419756C>G | CA359923226 | MARVELD2 | c.371C>G (p.Pro124Arg) | |
| 5 | g.69419756C>T | CA359923225 | MARVELD2 | c.371C>T (p.Pro124Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419757A>C | CA445083367 | MARVELD2 | c.372A>C (p.Pro124=) | |
| 5 | g.69419757A>G | CA445083368 | MARVELD2 | c.372A>G (p.Pro124=) | dbSNP |
| 5 | g.69419757A>T | CA445083378 | MARVELD2 | c.372A>T (p.Pro124=) | |
| 5 | g.69419758A>C | CA359923228 | MARVELD2 | c.373A>C (p.Asn125His) | gnomAD v4 |
| 5 | g.69419758A>G | CA359923229 | MARVELD2 | c.373A>G (p.Asn125Asp) | gnomAD v4 |
| 5 | g.69419758A>T | CA359923230 | MARVELD2 | c.373A>T (p.Asn125Tyr) | |
| 5 | g.69419759A>C | CA359923231 | MARVELD2 | c.374A>C (p.Asn125Thr) | |
| 5 | g.69419759A>G | CA359923232 | MARVELD2 | c.374A>G (p.Asn125Ser) | |
| 5 | g.69419759A>T | CA359923233 | MARVELD2 | c.374A>T (p.Asn125Ile) | |
| 5 | g.69419760C>A | CA359923234 | MARVELD2 | c.375C>A (p.Asn125Lys) | |
| 5 | g.69419760C>G | CA359923235 | MARVELD2 | c.375C>G (p.Asn125Lys) | |
| 5 | g.69419760C>T | CA445083393 | MARVELD2 | c.375C>T (p.Asn125=) | |
| 5 | g.69419761C>A | CA359923236 | MARVELD2 | c.376C>A (p.His126Asn) | |
| 5 | g.69419761C= | CA1553916162 | MARVELD2 | c.376C= (p.His126=) | |
| 5 | g.69419761C>G | CA359923237 | MARVELD2 | c.376C>G (p.His126Asp) | gnomAD v4 |
| 5 | g.69419761C>T | CA359923238 | MARVELD2 | c.376C>T (p.His126Tyr) | dbSNP |
| 5 | g.69419762A>C | CA359923239 | MARVELD2 | c.377A>C (p.His126Pro) | |
| 5 | g.69419762A>G | CA359923240 | MARVELD2 | c.377A>G (p.His126Arg) | |
| 5 | g.69419762A>T | CA359923241 | MARVELD2 | c.377A>T (p.His126Leu) | |
| 5 | g.69419763C>A | CA359923242 | MARVELD2 | c.378C>A (p.His126Gln) | |
| 5 | g.69419763C>G | CA359923243 | MARVELD2 | c.378C>G (p.His126Gln) | |
| 5 | g.69419763C>T | CA445083403 | MARVELD2 | c.378C>T (p.His126=) | |
| 5 | g.69419764C>A | CA359923244 | MARVELD2 | c.379C>A (p.Arg127Ser) | |
| 5 | g.69419764C= | CA1553916165 | MARVELD2 | c.379C= (p.Arg127=) | |
| 5 | g.69419764C>G | CA359923245 | MARVELD2 | c.379C>G (p.Arg127Gly) | |
| 5 | g.69419764C>T | CA3294031 | MARVELD2 | c.379C>T (p.Arg127Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419765G>A | CA3294032 | MARVELD2 | c.380G>A (p.Arg127His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419765G>C | CA359923246 | MARVELD2 | c.380G>C (p.Arg127Pro) | |
| 5 | g.69419765G= | CA1553916168 | MARVELD2 | c.380G= (p.Arg127=) | |
| 5 | g.69419765G>T | CA359923247 | MARVELD2 | c.380G>T (p.Arg127Leu) | |
| 5 | g.69419766T>A | CA445083409 | MARVELD2 | c.381T>A (p.Arg127=) | |
| 5 | g.69419766T>C | CA445083410 | MARVELD2 | c.381T>C (p.Arg127=) | |
| 5 | g.69419766T>G | CA445083411 | MARVELD2 | c.381T>G (p.Arg127=) | |
| 5 | g.69419767T>A | CA359923248 | MARVELD2 | c.382T>A (p.Ser128Thr) | |
| 5 | g.69419767T>C | CA359923250 | MARVELD2 | c.382T>C (p.Ser128Pro) | |
| 5 | g.69419767T>G | CA359923252 | MARVELD2 | c.382T>G (p.Ser128Ala) | |
| 5 | g.69419768C>A | CA359923254 | MARVELD2 | c.383C>A (p.Ser128Ter) | gnomAD v4 |
| 5 | g.69419768C= | CA1553916172 | MARVELD2 | c.383C= (p.Ser128=) | |
| 5 | g.69419768C>G | CA359923255 | MARVELD2 | c.383C>G (p.Ser128Trp) | gnomAD v4 |
| 5 | g.69419768C>T | CA3294033 | MARVELD2 | c.383C>T (p.Ser128Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.69419769G>A | CA3294034 | MARVELD2 | c.384G>A (p.Ser128=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419769G>C | CA445083421 | MARVELD2 | c.384G>C (p.Ser128=) | |
| 5 | g.69419769G= | CA1553916175 | MARVELD2 | c.384G= (p.Ser128=) | |
| 5 | g.69419769G>T | CA445083423 | MARVELD2 | c.384G>T (p.Ser128=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419769_69419770delinsGC | CA1553916176 | MARVELD2 | c.384_385delinsGC (p.Ser128=) | |
| 5 | g.69419770C>A | CA359923261 | MARVELD2 | c.385C>A (p.Pro129Thr) | |
| 5 | g.69419770C>G | CA359923263 | MARVELD2 | c.385C>G (p.Pro129Ala) | |
| 5 | g.69419770C>T | CA359923259 | MARVELD2 | c.385C>T (p.Pro129Ser) | |
| 5 | g.69419773del | CA813532609 | MARVELD2 | c.388del (p.Leu130SerfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69419771C>A | CA359923267 | MARVELD2 | c.386C>A (p.Pro129His) | |
| 5 | g.69419771C>G | CA359923265 | MARVELD2 | c.386C>G (p.Pro129Arg) | |
| 5 | g.69419771C>T | CA359923269 | MARVELD2 | c.386C>T (p.Pro129Leu) | |
| 5 | g.69419772C>A | CA445083439 | MARVELD2 | c.387C>A (p.Pro129=) | |
| 5 | g.69419772C>G | CA445083440 | MARVELD2 | c.387C>G (p.Pro129=) | |
| 5 | g.69419772C>T | CA445083442 | MARVELD2 | c.387C>T (p.Pro129=) | |
| 5 | g.69419773C>A | CA359923271 | MARVELD2 | c.388C>A (p.Leu130Ile) | |
| 5 | g.69419773C>G | CA359923274 | MARVELD2 | c.388C>G (p.Leu130Val) | |
| 5 | g.69419773C>T | CA359923273 | MARVELD2 | c.388C>T (p.Leu130Phe) | |
| 5 | g.69419774T>A | CA3294035 | MARVELD2 | c.389T>A (p.Leu130His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419774T>C | CA359923279 | MARVELD2 | c.389T>C (p.Leu130Pro) | |
| 5 | g.69419774T>G | CA359923277 | MARVELD2 | c.389T>G (p.Leu130Arg) | |
| 5 | g.69419774T= | CA1553916185 | MARVELD2 | c.389T= (p.Leu130=) | |
| 5 | g.69419775C>A | CA445083456 | MARVELD2 | c.390C>A (p.Leu130=) | |
| 5 | g.69419775C>G | CA445083450 | MARVELD2 | c.390C>G (p.Leu130=) | |
| 5 | g.69419775C>T | CA445083453 | MARVELD2 | c.390C>T (p.Leu130=) | |
| 5 | g.69419776A= | CA1553916187 | MARVELD2 | c.391A= (p.Asn131=) | |
| 5 | g.69419776A>C | CA359923281 | MARVELD2 | c.391A>C (p.Asn131His) | |
| 5 | g.69419776A>G | CA359923283 | MARVELD2 | c.391A>G (p.Asn131Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419776A>T | CA359923284 | MARVELD2 | c.391A>T (p.Asn131Tyr) | |
| 5 | g.69419777A>C | CA359923285 | MARVELD2 | c.392A>C (p.Asn131Thr) | |
| 5 | g.69419777A>G | CA359923287 | MARVELD2 | c.392A>G (p.Asn131Ser) | |
| 5 | g.69419777A>T | CA359923288 | MARVELD2 | c.392A>T (p.Asn131Ile) | |
| 5 | g.69419778C>A | CA359923293 | MARVELD2 | c.393C>A (p.Asn131Lys) | |
| 5 | g.69419778C>G | CA359923291 | MARVELD2 | c.393C>G (p.Asn131Lys) | |
| 5 | g.69419778C>T | CA445083468 | MARVELD2 | c.393C>T (p.Asn131=) | |
| 5 | g.69419779T>A | CA359923295 | MARVELD2 | c.394T>A (p.Ser132Thr) | |
| 5 | g.69419779T>C | CA359923297 | MARVELD2 | c.394T>C (p.Ser132Pro) | |
| 5 | g.69419779T>G | CA359923299 | MARVELD2 | c.394T>G (p.Ser132Ala) | |
| 5 | g.69419780C>A | CA359923301 | MARVELD2 | c.395C>A (p.Ser132Tyr) | |
| 5 | g.69419780C>G | CA359923303 | MARVELD2 | c.395C>G (p.Ser132Cys) | gnomAD v4 |
| 5 | g.69419780C>T | CA359923304 | MARVELD2 | c.395C>T (p.Ser132Phe) | |
| 5 | g.69419781C>A | CA445083474 | MARVELD2 | c.396C>A (p.Ser132=) | gnomAD v4 |
| 5 | g.69419781C>G | CA445083476 | MARVELD2 | c.396C>G (p.Ser132=) | |
| 5 | g.69419781C>T | CA445083478 | MARVELD2 | c.396C>T (p.Ser132=) | |
| 5 | g.69419782T>A | CA359923307 | MARVELD2 | c.397T>A (p.Cys133Ser) | |
| 5 | g.69419782T>C | CA359923310 | MARVELD2 | c.397T>C (p.Cys133Arg) | |
| 5 | g.69419782T>G | CA359923309 | MARVELD2 | c.397T>G (p.Cys133Gly) | |
| 5 | g.69419783G>A | CA359923312 | MARVELD2 | c.398G>A (p.Cys133Tyr) | |
| 5 | g.69419783G>C | CA359923314 | MARVELD2 | c.398G>C (p.Cys133Ser) | |
| 5 | g.69419783G>T | CA359923316 | MARVELD2 | c.398G>T (p.Cys133Phe) | |
| 5 | g.69419784C>A | CA359923318 | MARVELD2 | c.399C>A (p.Cys133Ter) | |
| 5 | g.69419784C= | CA1553916189 | MARVELD2 | c.399C= (p.Cys133=) | |
| 5 | g.69419784C>G | CA359923319 | MARVELD2 | c.399C>G (p.Cys133Trp) | gnomAD v4 |
| 5 | g.69419784C>T | CA445083491 | MARVELD2 | c.399C>T (p.Cys133=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419785A= | CA1553916193 | MARVELD2 | c.400A= (p.Lys134=) | |
| 5 | g.69419785A>C | CA359923322 | MARVELD2 | c.400A>C (p.Lys134Gln) | |
| 5 | g.69419785A>G | CA3294036 | MARVELD2 | c.400A>G (p.Lys134Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419785A>T | CA359923325 | MARVELD2 | c.400A>T (p.Lys134Ter) | |
| 5 | g.69419786A>C | CA359923327 | MARVELD2 | c.401A>C (p.Lys134Thr) | |
| 5 | g.69419786A>G | CA359923329 | MARVELD2 | c.401A>G (p.Lys134Arg) | |
| 5 | g.69419786A>T | CA359923330 | MARVELD2 | c.401A>T (p.Lys134Ile) | |
| 5 | g.69419787A>C | CA359923334 | MARVELD2 | c.402A>C (p.Lys134Asn) | |
| 5 | g.69419787A>G | CA445083502 | MARVELD2 | c.402A>G (p.Lys134=) | |
| 5 | g.69419787A>T | CA359923332 | MARVELD2 | c.402A>T (p.Lys134Asn) | |
| 5 | g.69419788G>A | CA359923336 | MARVELD2 | c.403G>A (p.Asp135Asn) | |
| 5 | g.69419788G>C | CA359923338 | MARVELD2 | c.403G>C (p.Asp135His) | gnomAD v4 |
| 5 | g.69419788G>T | CA359923340 | MARVELD2 | c.403G>T (p.Asp135Tyr) | |
| 5 | g.69419789A>C | CA359923342 | MARVELD2 | c.404A>C (p.Asp135Ala) | |
| 5 | g.69419789A>G | CA359923344 | MARVELD2 | c.404A>G (p.Asp135Gly) | |
| 5 | g.69419789A>T | CA359923346 | MARVELD2 | c.404A>T (p.Asp135Val) | |
| 5 | g.69419790T>A | CA359923349 | MARVELD2 | c.405T>A (p.Asp135Glu) | |
| 5 | g.69419790T>C | CA445083514 | MARVELD2 | c.405T>C (p.Asp135=) | |
| 5 | g.69419790T>G | CA359923347 | MARVELD2 | c.405T>G (p.Asp135Glu) | |
| 5 | g.69419790_69419791delinsTC | CA1553916196 | MARVELD2 | c.405_406delinsTC (p.Asp135=) | |
| 5 | g.69419791C>A | CA359923351 | MARVELD2 | c.406C>A (p.Pro136Thr) | |
| 5 | g.69419791C>G | CA359923353 | MARVELD2 | c.406C>G (p.Pro136Ala) | |
| 5 | g.69419791C>T | CA359923355 | MARVELD2 | c.406C>T (p.Pro136Ser) | gnomAD v4 COSMIC |
| 5 | g.69419793del | CA119991407 | MARVELD2 | c.408del (p.Tyr137ThrfsTer26) c.408del (p.Tyr137ThrfsTer?) | dbSNP |
| 5 | g.69419792C>A | CA359923357 | MARVELD2 | c.407C>A (p.Pro136His) | |
| 5 | g.69419792C>G | CA359923358 | MARVELD2 | c.407C>G (p.Pro136Arg) | |
| 5 | g.69419792C>T | CA359923360 | MARVELD2 | c.407C>T (p.Pro136Leu) | gnomAD v4 COSMIC |
| 5 | g.69419793C>A | CA445083526 | MARVELD2 | c.408C>A (p.Pro136=) | COSMIC |
| 5 | g.69419793C= | CA1553916201 | MARVELD2 | c.408C= (p.Pro136=) | |
| 5 | g.69419793C>G | CA445083529 | MARVELD2 | c.408C>G (p.Pro136=) | gnomAD v4 |
| 5 | g.69419793C>T | CA445083530 | MARVELD2 | c.408C>T (p.Pro136=) | dbSNP gnomAD v4 |
| 5 | g.69419794T>A | CA359923365 | MARVELD2 | c.409T>A (p.Tyr137Asn) | |
| 5 | g.69419794T>C | CA359923362 | MARVELD2 | c.409T>C (p.Tyr137His) | |
| 5 | g.69419794T>G | CA359923364 | MARVELD2 | c.409T>G (p.Tyr137Asp) | |
| 5 | g.69419795A= | CA1553916204 | MARVELD2 | c.410A= (p.Tyr137=) | |
| 5 | g.69419795A>C | CA359923368 | MARVELD2 | c.410A>C (p.Tyr137Ser) | |
| 5 | g.69419795A>G | CA359923369 | MARVELD2 | c.410A>G (p.Tyr137Cys) | dbSNP gnomAD v4 |
| 5 | g.69419795A>T | CA359923371 | MARVELD2 | c.410A>T (p.Tyr137Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419796C>A | CA359923373 | MARVELD2 | c.411C>A (p.Tyr137Ter) | |
| 5 | g.69419796C= | CA1553916206 | MARVELD2 | c.411C= (p.Tyr137=) | |
| 5 | g.69419796C>G | CA359923375 | MARVELD2 | c.411C>G (p.Tyr137Ter) | dbSNP |
| 5 | g.69419796C>T | CA3294037 | MARVELD2 | c.411C>T (p.Tyr137=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419797G>A | CA3294038 | MARVELD2 | c.412G>A (p.Gly138Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419797G>C | CA359923378 | MARVELD2 | c.412G>C (p.Gly138Arg) | |
| 5 | g.69419797G= | CA1553916209 | MARVELD2 | c.412G= (p.Gly138=) | |
| 5 | g.69419797G>T | CA359923380 | MARVELD2 | c.412G>T (p.Gly138Ter) | |
| 5 | g.69419798G>A | CA359923382 | MARVELD2 | c.413G>A (p.Gly138Glu) | COSMIC |
| 5 | g.69419798G>C | CA359923383 | MARVELD2 | c.413G>C (p.Gly138Ala) | |
| 5 | g.69419798G>T | CA359923385 | MARVELD2 | c.413G>T (p.Gly138Val) | |
| 5 | g.69419799A= | CA1553916213 | MARVELD2 | c.414A= (p.Gly138=) | |
| 5 | g.69419799A>C | CA3294039 | MARVELD2 | c.414A>C (p.Gly138=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.69419799A>G | CA445083544 | MARVELD2 | c.414A>G (p.Gly138=) | gnomAD v4 |
| 5 | g.69419799A>T | CA445083550 | MARVELD2 | c.414A>T (p.Gly138=) | |
| 5 | g.69419800G>A | CA359923388 | MARVELD2 | c.415G>A (p.Gly139Arg) | gnomAD v4 |
| 5 | g.69419800G>C | CA359923392 | MARVELD2 | c.415G>C (p.Gly139Arg) | |
| 5 | g.69419800G>T | CA359923390 | MARVELD2 | c.415G>T (p.Gly139Trp) | |
| 5 | g.69419801G>A | CA3294040 | MARVELD2 | c.416G>A (p.Gly139Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419801G>C | CA359923397 | MARVELD2 | c.416G>C (p.Gly139Ala) | |
| 5 | g.69419801G= | CA1553916217 | MARVELD2 | c.416G= (p.Gly139=) | |
| 5 | g.69419801G>T | CA359923395 | MARVELD2 | c.416G>T (p.Gly139Val) | |
| 5 | g.69419802G>A | CA445083560 | MARVELD2 | c.417G>A (p.Gly139=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419802G>C | CA445083562 | MARVELD2 | c.417G>C (p.Gly139=) | |
| 5 | g.69419802G= | CA1553916219 | MARVELD2 | c.417G= (p.Gly139=) | |
| 5 | g.69419802G>T | CA445083564 | MARVELD2 | c.417G>T (p.Gly139=) | |
| 5 | g.69419803T>A | CA359923399 | MARVELD2 | c.418T>A (p.Ser140Thr) | |
| 5 | g.69419803T>C | CA359923401 | MARVELD2 | c.418T>C (p.Ser140Pro) | |
| 5 | g.69419803T>G | CA359923403 | MARVELD2 | c.418T>G (p.Ser140Ala) | |
| 5 | g.69419804C>A | CA359923405 | MARVELD2 | c.419C>A (p.Ser140Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419804C= | CA1553916221 | MARVELD2 | c.419C= (p.Ser140=) | |
| 5 | g.69419804C>G | CA359923407 | MARVELD2 | c.419C>G (p.Ser140Ter) | |
| 5 | g.69419804C>T | CA359923408 | MARVELD2 | c.419C>T (p.Ser140Leu) | |
| 5 | g.69419805A>C | CA445083568 | MARVELD2 | c.420A>C (p.Ser140=) | |
| 5 | g.69419805A>G | CA445083569 | MARVELD2 | c.420A>G (p.Ser140=) | gnomAD v4 |
| 5 | g.69419805A>T | CA445083570 | MARVELD2 | c.420A>T (p.Ser140=) | |
| 5 | g.69419805dup | CA1553916223 | MARVELD2 | c.420dup (p.Glu141ArgfsTer5) | dbSNP |
| 5 | g.69419806G>A | CA359923410 | MARVELD2 | c.421G>A (p.Glu141Lys) | |
| 5 | g.69419806G>C | CA359923412 | MARVELD2 | c.421G>C (p.Glu141Gln) | |
| 5 | g.69419806G>T | CA359923414 | MARVELD2 | c.421G>T (p.Glu141Ter) | |
| 5 | g.69419807A>C | CA359923416 | MARVELD2 | c.422A>C (p.Glu141Ala) | |
| 5 | g.69419807A>G | CA359923418 | MARVELD2 | c.422A>G (p.Glu141Gly) | |
| 5 | g.69419807A>T | CA359923420 | MARVELD2 | c.422A>T (p.Glu141Val) | |
| 5 | g.69419808A>C | CA359923423 | MARVELD2 | c.423A>C (p.Glu141Asp) | |
| 5 | g.69419808A>G | CA445083581 | MARVELD2 | c.423A>G (p.Glu141=) | |
| 5 | g.69419808A>T | CA359923421 | MARVELD2 | c.423A>T (p.Glu141Asp) | |
| 5 | g.69419809G>A | CA359923425 | MARVELD2 | c.424G>A (p.Gly142Arg) | gnomAD v4 |
| 5 | g.69419809G>C | CA359923426 | MARVELD2 | c.424G>C (p.Gly142Arg) | |
| 5 | g.69419809G>T | CA359923428 | MARVELD2 | c.424G>T (p.Gly142Ter) | |
| 5 | g.69419810G>A | CA359923431 | MARVELD2 | c.425G>A (p.Gly142Glu) | |
| 5 | g.69419810G>C | CA359923432 | MARVELD2 | c.425G>C (p.Gly142Ala) | |
| 5 | g.69419810G>T | CA359923434 | MARVELD2 | c.425G>T (p.Gly142Val) | |
| 5 | g.69419811A>C | CA445083588 | MARVELD2 | c.426A>C (p.Gly142=) | |
| 5 | g.69419811A>G | CA445083589 | MARVELD2 | c.426A>G (p.Gly142=) | |
| 5 | g.69419811A>T | CA445083590 | MARVELD2 | c.426A>T (p.Gly142=) | |
| 5 | g.69419812A>C | CA359923436 | MARVELD2 | c.427A>C (p.Thr143Pro) | |
| 5 | g.69419812A>G | CA359923437 | MARVELD2 | c.427A>G (p.Thr143Ala) | gnomAD v4 |
| 5 | g.69419812A>T | CA359923438 | MARVELD2 | c.427A>T (p.Thr143Ser) | |
| 5 | g.69419813C>A | CA359923440 | MARVELD2 | c.428C>A (p.Thr143Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69419813C= | CA1553916226 | MARVELD2 | c.428C= (p.Thr143=) | |
| 5 | g.69419813C>G | CA3294042 | MARVELD2 | c.428C>G (p.Thr143Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419813C>T | CA3294041 | MARVELD2 | c.428C>T (p.Thr143Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419814C>A | CA445083602 | MARVELD2 | c.429C>A (p.Thr143=) | |
| 5 | g.69419814C>G | CA445083604 | MARVELD2 | c.429C>G (p.Thr143=) | |
| 5 | g.69419814C>T | CA445083605 | MARVELD2 | c.429C>T (p.Thr143=) | gnomAD v4 |
| 5 | g.69419814_69419815delinsCT | CA1553916230 | MARVELD2 | c.429_430delinsCT (p.Thr143=) | |
| 5 | g.69419815T>A | CA359923447 | MARVELD2 | c.430T>A (p.Phe144Ile) | |
| 5 | g.69419815T>C | CA359923445 | MARVELD2 | c.430T>C (p.Phe144Leu) | dbSNP |
| 5 | g.69419815T>G | CA3294043 | MARVELD2 | c.430T>G (p.Phe144Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419815T= | CA1553916235 | MARVELD2 | c.430T= (p.Phe144=) | |
| 5 | g.69419817del | CA813532705 | MARVELD2 | c.432del (p.Phe144LeufsTer19) c.432del (p.Phe144LeufsTer?) | dbSNP gnomAD v4 |
| 5 | g.69419816T>A | CA359923450 | MARVELD2 | c.431T>A (p.Phe144Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419816T>C | CA359923451 | MARVELD2 | c.431T>C (p.Phe144Ser) | |
| 5 | g.69419816T>G | CA359923453 | MARVELD2 | c.431T>G (p.Phe144Cys) | |
| 5 | g.69419816T= | CA1553916238 | MARVELD2 | c.431T= (p.Phe144=) | |
| 5 | g.69419817T>A | CA359923455 | MARVELD2 | c.432T>A (p.Phe144Leu) | |
| 5 | g.69419817T>C | CA445083616 | MARVELD2 | c.432T>C (p.Phe144=) | |
| 5 | g.69419817T>G | CA359923457 | MARVELD2 | c.432T>G (p.Phe144Leu) | |
| 5 | g.69419818A>C | CA359923459 | MARVELD2 | c.433A>C (p.Ser145Arg) | |
| 5 | g.69419818A>G | CA359923460 | MARVELD2 | c.433A>G (p.Ser145Gly) | |
| 5 | g.69419818A>T | CA359923461 | MARVELD2 | c.433A>T (p.Ser145Cys) | |
| 5 | g.69419819G>A | CA359923463 | MARVELD2 | c.434G>A (p.Ser145Asn) | |
| 5 | g.69419819G>C | CA359923464 | MARVELD2 | c.434G>C (p.Ser145Thr) | |
| 5 | g.69419819G>T | CA359923466 | MARVELD2 | c.434G>T (p.Ser145Ile) | ClinVar gnomAD v4 COSMIC |
| 5 | g.69419820T>A | CA359923468 | MARVELD2 | c.435T>A (p.Ser145Arg) | |
| 5 | g.69419820T>C | CA445083628 | MARVELD2 | c.435T>C (p.Ser145=) | |
| 5 | g.69419820T>G | CA359923470 | MARVELD2 | c.435T>G (p.Ser145Arg) | |
| 5 | g.69419821T>A | CA359923475 | MARVELD2 | c.436T>A (p.Ser146Thr) c.436T>A | |
| 5 | g.69419821T>C | CA359923472 | MARVELD2 | c.436T>C (p.Ser146Pro) c.436T>C | |
| 5 | g.69419821T>G | CA3294044 | MARVELD2 | c.436T>G (p.Ser146Ala) c.436T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419821T= | CA1553916241 | MARVELD2 | c.436T= (p.Ser146=) c.436T= | |
| 5 | g.69419822C>A | CA359923476 | MARVELD2 | c.437C>A (p.Ser146Tyr) | |
| 5 | g.69419822C= | CA1553916244 | MARVELD2 | c.437C= (p.Ser146=) | |
| 5 | g.69419822C>G | CA359923477 | MARVELD2 | c.437C>G (p.Ser146Cys) | |
| 5 | g.69419822C>T | CA3294045 | MARVELD2 | c.437C>T (p.Ser146Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419823C>A | CA445083650 | MARVELD2 | c.438C>A (p.Ser146=) | |
| 5 | g.69419823C= | CA1553916248 | MARVELD2 | c.438C= (p.Ser146=) | |
| 5 | g.69419823C>G | CA445083652 | MARVELD2 | c.438C>G (p.Ser146=) | |
| 5 | g.69419823C>T | CA445083651 | MARVELD2 | c.438C>T (p.Ser146=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419824C>A | CA445083653 | MARVELD2 | c.439C>A (p.Arg147=) | |
| 5 | g.69419824C= | CA1553916251 | MARVELD2 | c.439C= (p.Arg147=) | |
| 5 | g.69419824C>G | CA359923479 | MARVELD2 | c.439C>G (p.Arg147Gly) | |
| 5 | g.69419824C>T | CA3294046 | MARVELD2 | c.439C>T (p.Arg147Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419825G>A | CA3294047 | MARVELD2 | c.440G>A (p.Arg147Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.69419825G>C | CA359923482 | MARVELD2 | c.440G>C (p.Arg147Pro) | |
| 5 | g.69419825G= | CA1553916257 | MARVELD2 | c.440G= (p.Arg147=) | |
| 5 | g.69419825G>T | CA359923484 | MARVELD2 | c.440G>T (p.Arg147Leu) | |
| 5 | g.69419826G>A | CA445083655 | MARVELD2 | c.441G>A (p.Arg147=) | |
| 5 | g.69419826G>C | CA445083656 | MARVELD2 | c.441G>C (p.Arg147=) | |
| 5 | g.69419826G>T | CA445083657 | MARVELD2 | c.441G>T (p.Arg147=) | |
| 5 | g.69419827A= | CA1553916261 | MARVELD2 | c.442A= (p.Lys148=) | |
| 5 | g.69419827A>C | CA359923486 | MARVELD2 | c.442A>C (p.Lys148Gln) | |
| 5 | g.69419827A>G | CA359923487 | MARVELD2 | c.442A>G (p.Lys148Glu) | dbSNP |
| 5 | g.69419827A>T | CA359923488 | MARVELD2 | c.442A>T (p.Lys148Ter) | |
| 5 | g.69419828A= | CA1553916263 | MARVELD2 | c.443A= (p.Lys148=) | |
| 5 | g.69419828A>C | CA359923491 | MARVELD2 | c.443A>C (p.Lys148Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419828A>G | CA359923495 | MARVELD2 | c.443A>G (p.Lys148Arg) | |
| 5 | g.69419828A>T | CA359923493 | MARVELD2 | c.443A>T (p.Lys148Ile) | |
| 5 | g.69419829A>C | CA359923497 | MARVELD2 | c.444A>C (p.Lys148Asn) | |
| 5 | g.69419829A>G | CA445083661 | MARVELD2 | c.444A>G (p.Lys148=) | |
| 5 | g.69419829A>T | CA359923499 | MARVELD2 | c.444A>T (p.Lys148Asn) | |
| 5 | g.69419830G>A | CA359923500 | MARVELD2 | c.445G>A (p.Glu149Lys) | |
| 5 | g.69419830G>C | CA359923505 | MARVELD2 | c.445G>C (p.Glu149Gln) | |
| 5 | g.69419830G= | CA1553916266 | MARVELD2 | c.445G= (p.Glu149=) | |
| 5 | g.69419830G>T | CA359923502 | MARVELD2 | c.445G>T (p.Glu149Ter) | dbSNP |
| 5 | g.69419831A>C | CA359923507 | MARVELD2 | c.446A>C (p.Glu149Ala) | |
| 5 | g.69419831A>G | CA359923509 | MARVELD2 | c.446A>G (p.Glu149Gly) | |
| 5 | g.69419831A>T | CA359923510 | MARVELD2 | c.446A>T (p.Glu149Val) | gnomAD v4 |
| 5 | g.69419832G>A | CA445083670 | MARVELD2 | c.447G>A (p.Glu149=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419832G>C | CA359923513 | MARVELD2 | c.447G>C (p.Glu149Asp) | |
| 5 | g.69419832G= | CA1553916269 | MARVELD2 | c.447G= (p.Glu149=) | |
| 5 | g.69419832G>T | CA359923515 | MARVELD2 | c.447G>T (p.Glu149Asp) | |
| 5 | g.69419833G>A | CA359923516 | MARVELD2 | c.448G>A (p.Ala150Thr) | |
| 5 | g.69419833G>C | CA359923518 | MARVELD2 | c.448G>C (p.Ala150Pro) | |
| 5 | g.69419833G= | CA1553916272 | MARVELD2 | c.448G= (p.Ala150=) | |
| 5 | g.69419833G>T | CA3294048 | MARVELD2 | c.448G>T (p.Ala150Ser) | dbSNP ExAC gnomAD v2 |
| 5 | g.69419834C>A | CA359923521 | MARVELD2 | c.449C>A (p.Ala150Asp) | COSMIC |
| 5 | g.69419834C>G | CA359923523 | MARVELD2 | c.449C>G (p.Ala150Gly) | |
| 5 | g.69419834C>T | CA359923525 | MARVELD2 | c.449C>T (p.Ala150Val) | |
| 5 | g.69419835T>A | CA445083678 | MARVELD2 | c.450T>A (p.Ala150=) | |
| 5 | g.69419835T>C | CA445083679 | MARVELD2 | c.450T>C (p.Ala150=) | |
| 5 | g.69419835T>G | CA445083680 | MARVELD2 | c.450T>G (p.Ala150=) | |
| 5 | g.69419836G>A | CA359923527 | MARVELD2 | c.451G>A (p.Asp151Asn) | |
| 5 | g.69419836G>C | CA359923531 | MARVELD2 | c.451G>C (p.Asp151His) | |
| 5 | g.69419836G>T | CA359923529 | MARVELD2 | c.451G>T (p.Asp151Tyr) | |
| 5 | g.69419837A= | CA1553916276 | MARVELD2 | c.452A= (p.Asp151=) | |
| 5 | g.69419837A>C | CA359923533 | MARVELD2 | c.452A>C (p.Asp151Ala) | |
| 5 | g.69419837A>G | CA359923535 | MARVELD2 | c.452A>G (p.Asp151Gly) | gnomAD v4 |
| 5 | g.69419837A>T | CA359923537 | MARVELD2 | c.452A>T (p.Asp151Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419838C>A | CA359923539 | MARVELD2 | c.453C>A (p.Asp151Glu) | gnomAD v4 |
| 5 | g.69419838C= | CA1553916280 | MARVELD2 | c.453C= (p.Asp151=) | |
| 5 | g.69419838C>G | CA359923541 | MARVELD2 | c.453C>G (p.Asp151Glu) | |
| 5 | g.69419838C>T | CA3294049 | MARVELD2 | c.453C>T (p.Asp151=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419839G>A | CA3294050 | MARVELD2 | c.454G>A (p.Ala152Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419839G>C | CA359923544 | MARVELD2 | c.454G>C (p.Ala152Pro) | gnomAD v4 |
| 5 | g.69419839G= | CA1553916284 | MARVELD2 | c.454G= (p.Ala152=) | |
| 5 | g.69419839G>T | CA359923545 | MARVELD2 | c.454G>T (p.Ala152Ser) | dbSNP gnomAD v2 gnomAD v4 |