| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.69420023C>A | CA359924024 | MARVELD2 | c.638C>A (p.Ala213Asp) | |
| 5 | g.69420023C>G | CA359924023 | MARVELD2 | c.638C>G (p.Ala213Gly) | |
| 5 | g.69420023C>T | CA359924021 | MARVELD2 | c.638C>T (p.Ala213Val) | gnomAD v4 |
| 5 | g.69420024T>A | CA445083689 | MARVELD2 | c.639T>A (p.Ala213=) | |
| 5 | g.69420024T>C | CA445083697 | MARVELD2 | c.639T>C (p.Ala213=) | |
| 5 | g.69420024T>G | CA445083693 | MARVELD2 | c.639T>G (p.Ala213=) | COSMIC |
| 5 | g.69420025T>A | CA359924027 | MARVELD2 | c.640T>A (p.Tyr214Asn) | |
| 5 | g.69420025T>C | CA359924031 | MARVELD2 | c.640T>C (p.Tyr214His) | |
| 5 | g.69420025T>G | CA119991706 | MARVELD2 | c.640T>G (p.Tyr214Asp) | dbSNP |
| 5 | g.69420025T= | CA1553916782 | MARVELD2 | c.640T= (p.Tyr214=) | |
| 5 | g.69420026A>C | CA359924033 | MARVELD2 | c.641A>C (p.Tyr214Ser) | |
| 5 | g.69420026A>G | CA359924035 | MARVELD2 | c.641A>G (p.Tyr214Cys) | |
| 5 | g.69420026A>T | CA359924037 | MARVELD2 | c.641A>T (p.Tyr214Phe) | |
| 5 | g.69420027C>A | CA359924039 | MARVELD2 | c.642C>A (p.Tyr214Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420027C= | CA1553916785 | MARVELD2 | c.642C= (p.Tyr214=) | |
| 5 | g.69420027C>G | CA359924041 | MARVELD2 | c.642C>G (p.Tyr214Ter) | |
| 5 | g.69420027C>T | CA445083709 | MARVELD2 | c.642C>T (p.Tyr214=) | |
| 5 | g.69420028A>C | CA359924045 | MARVELD2 | c.643A>C (p.Ile215Leu) | |
| 5 | g.69420028A>G | CA359924046 | MARVELD2 | c.643A>G (p.Ile215Val) | |
| 5 | g.69420028A>T | CA359924048 | MARVELD2 | c.643A>T (p.Ile215Phe) | |
| 5 | g.69420029T>A | CA359924051 | MARVELD2 | c.644T>A (p.Ile215Asn) | |
| 5 | g.69420029T>C | CA119991715 | MARVELD2 | c.644T>C (p.Ile215Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420029T>G | CA359924054 | MARVELD2 | c.644T>G (p.Ile215Ser) | |
| 5 | g.69420029T= | CA1553916790 | MARVELD2 | c.644T= (p.Ile215=) | |
| 5 | g.69420030T>A | CA445083717 | MARVELD2 | c.645T>A (p.Ile215=) | |
| 5 | g.69420030T>C | CA445083718 | MARVELD2 | c.645T>C (p.Ile215=) | |
| 5 | g.69420030T>G | CA359924056 | MARVELD2 | c.645T>G (p.Ile215Met) | |
| 5 | g.69420031C>A | CA359924062 | MARVELD2 | c.646C>A (p.His216Asn) | |
| 5 | g.69420031C>G | CA359924059 | MARVELD2 | c.646C>G (p.His216Asp) | |
| 5 | g.69420031C>T | CA359924061 | MARVELD2 | c.646C>T (p.His216Tyr) | |
| 5 | g.69420032A>C | CA359924064 | MARVELD2 | c.647A>C (p.His216Pro) | |
| 5 | g.69420032A>G | CA359924066 | MARVELD2 | c.647A>G (p.His216Arg) | |
| 5 | g.69420032A>T | CA359924068 | MARVELD2 | c.647A>T (p.His216Leu) | |
| 5 | g.69420033C>A | CA359924069 | MARVELD2 | c.648C>A (p.His216Gln) | |
| 5 | g.69420033C= | CA1553916793 | MARVELD2 | c.648C= (p.His216=) | |
| 5 | g.69420033C>G | CA359924070 | MARVELD2 | c.648C>G (p.His216Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420033C>T | CA445083730 | MARVELD2 | c.648C>T (p.His216=) | |
| 5 | g.69420034A>C | CA359924072 | MARVELD2 | c.649A>C (p.Lys217Gln) | |
| 5 | g.69420034A>G | CA359924075 | MARVELD2 | c.649A>G (p.Lys217Glu) | dbSNP |
| 5 | g.69420034A>T | CA359924077 | MARVELD2 | c.649A>T (p.Lys217Ter) | |
| 5 | g.69420035A= | CA1553916796 | MARVELD2 | c.650A= (p.Lys217=) | |
| 5 | g.69420035A>C | CA359924079 | MARVELD2 | c.650A>C (p.Lys217Thr) | |
| 5 | g.69420035A>G | CA3294087 | MARVELD2 | c.650A>G (p.Lys217Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420035A>T | CA359924082 | MARVELD2 | c.650A>T (p.Lys217Met) | |
| 5 | g.69420036G>A | CA445083739 | MARVELD2 | c.651G>A (p.Lys217=) | gnomAD v4 |
| 5 | g.69420036G>C | CA359924084 | MARVELD2 | c.651G>C (p.Lys217Asn) | |
| 5 | g.69420036G>T | CA359924086 | MARVELD2 | c.651G>T (p.Lys217Asn) | |
| 5 | g.69420037G>A | CA359924088 | MARVELD2 | c.652G>A (p.Asp218Asn) | |
| 5 | g.69420037G>C | CA359924089 | MARVELD2 | c.652G>C (p.Asp218His) | |
| 5 | g.69420037G>T | CA359924091 | MARVELD2 | c.652G>T (p.Asp218Tyr) | |
| 5 | g.69420038A>C | CA359924093 | MARVELD2 | c.653A>C (p.Asp218Ala) | |
| 5 | g.69420038A>G | CA359924095 | MARVELD2 | c.653A>G (p.Asp218Gly) | gnomAD v4 |
| 5 | g.69420038A>T | CA359924097 | MARVELD2 | c.653A>T (p.Asp218Val) | |
| 5 | g.69420039C>A | CA359924099 | MARVELD2 | c.654C>A (p.Asp218Glu) | |
| 5 | g.69420039C= | CA1553916798 | MARVELD2 | c.654C= (p.Asp218=) | |
| 5 | g.69420039C>G | CA359924101 | MARVELD2 | c.654C>G (p.Asp218Glu) | |
| 5 | g.69420039C>T | CA445083752 | MARVELD2 | c.654C>T (p.Asp218=) | dbSNP |
| 5 | g.69420040A= | CA1553916801 | MARVELD2 | c.655A= (p.Ser219=) | |
| 5 | g.69420040A>C | CA359924103 | MARVELD2 | c.655A>C (p.Ser219Arg) | |
| 5 | g.69420040A>G | CA359924105 | MARVELD2 | c.655A>G (p.Ser219Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420040A>T | CA359924107 | MARVELD2 | c.655A>T (p.Ser219Cys) | |
| 5 | g.69420041G>A | CA359924109 | MARVELD2 | c.656G>A (p.Ser219Asn) | |
| 5 | g.69420041G>C | CA359924111 | MARVELD2 | c.656G>C (p.Ser219Thr) | |
| 5 | g.69420041G>T | CA359924113 | MARVELD2 | c.656G>T (p.Ser219Ile) | |
| 5 | g.69420042T>A | CA359924115 | MARVELD2 | c.657T>A (p.Ser219Arg) | |
| 5 | g.69420042T>C | CA445083771 | MARVELD2 | c.657T>C (p.Ser219=) | |
| 5 | g.69420042T>G | CA359924117 | MARVELD2 | c.657T>G (p.Ser219Arg) | |
| 5 | g.69420043G>A | CA359924119 | MARVELD2 | c.658G>A (p.Glu220Lys) | |
| 5 | g.69420043G>C | CA359924121 | MARVELD2 | c.658G>C (p.Glu220Gln) | gnomAD v4 |
| 5 | g.69420043G>T | CA359924123 | MARVELD2 | c.658G>T (p.Glu220Ter) | |
| 5 | g.69420044A>C | CA359924125 | MARVELD2 | c.659A>C (p.Glu220Ala) | |
| 5 | g.69420044A>G | CA359924126 | MARVELD2 | c.659A>G (p.Glu220Gly) | |
| 5 | g.69420044A>T | CA359924128 | MARVELD2 | c.659A>T (p.Glu220Val) | |
| 5 | g.69420045G>A | CA445083776 | MARVELD2 | c.660G>A (p.Glu220=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69420045G>C | CA359924130 | MARVELD2 | c.660G>C (p.Glu220Asp) | |
| 5 | g.69420045G= | CA1553916803 | MARVELD2 | c.660G= (p.Glu220=) | |
| 5 | g.69420045G>T | CA359924132 | MARVELD2 | c.660G>T (p.Glu220Asp) | |
| 5 | g.69420046T>A | CA359924134 | MARVELD2 | c.661T>A (p.Trp221Arg) | |
| 5 | g.69420046T>C | CA359924135 | MARVELD2 | c.661T>C (p.Trp221Arg) | |
| 5 | g.69420046T>G | CA359924136 | MARVELD2 | c.661T>G (p.Trp221Gly) | |
| 5 | g.69420047G>A | CA359924140 | MARVELD2 | c.662G>A (p.Trp221Ter) | |
| 5 | g.69420047G>C | CA10620722 | MARVELD2 | c.662G>C (p.Trp221Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69420047G= | CA1553916806 | MARVELD2 | c.662G= (p.Trp221=) | |
| 5 | g.69420047G>T | CA359924138 | MARVELD2 | c.662G>T (p.Trp221Leu) | |
| 5 | g.69420048G>A | CA359924142 | MARVELD2 | c.663G>A (p.Trp221Ter) | |
| 5 | g.69420048G>C | CA359924146 | MARVELD2 | c.663G>C (p.Trp221Cys) | |
| 5 | g.69420048G>T | CA359924144 | MARVELD2 | c.663G>T (p.Trp221Cys) | |
| 5 | g.69420049T>A | CA359924149 | MARVELD2 | c.664T>A (p.Tyr222Asn) | |
| 5 | g.69420049T>C | CA359924153 | MARVELD2 | c.664T>C (p.Tyr222His) | |
| 5 | g.69420049T>G | CA359924150 | MARVELD2 | c.664T>G (p.Tyr222Asp) | gnomAD v4 |
| 5 | g.69420050A>C | CA359924155 | MARVELD2 | c.665A>C (p.Tyr222Ser) | |
| 5 | g.69420050A>G | CA359924157 | MARVELD2 | c.665A>G (p.Tyr222Cys) | |
| 5 | g.69420050A>T | CA359924159 | MARVELD2 | c.665A>T (p.Tyr222Phe) | |
| 5 | g.69420051C>A | CA359924161 | MARVELD2 | c.666C>A (p.Tyr222Ter) | |
| 5 | g.69420051C= | CA1553916809 | MARVELD2 | c.666C= (p.Tyr222=) | |
| 5 | g.69420051C>G | CA359924162 | MARVELD2 | c.666C>G (p.Tyr222Ter) | ClinVar |
| 5 | g.69420051C>T | CA3294088 | MARVELD2 | c.666C>T (p.Tyr222=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420052A>C | CA359924165 | MARVELD2 | c.667A>C (p.Asn223His) | |
| 5 | g.69420052A>G | CA359924167 | MARVELD2 | c.667A>G (p.Asn223Asp) | gnomAD v4 |
| 5 | g.69420052A>T | CA359924169 | MARVELD2 | c.667A>T (p.Asn223Tyr) | |
| 5 | g.69420053A= | CA1553916815 | MARVELD2 | c.668A= (p.Asn223=) | |
| 5 | g.69420053A>C | CA359924171 | MARVELD2 | c.668A>C (p.Asn223Thr) | |
| 5 | g.69420053A>G | CA359924173 | MARVELD2 | c.668A>G (p.Asn223Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.69420053A>T | CA359924174 | MARVELD2 | c.668A>T (p.Asn223Ile) | |
| 5 | g.69420054C>A | CA359924176 | MARVELD2 | c.669C>A (p.Asn223Lys) | |
| 5 | g.69420054C= | CA1553916817 | MARVELD2 | c.669C= (p.Asn223=) | |
| 5 | g.69420054C>G | CA359924178 | MARVELD2 | c.669C>G (p.Asn223Lys) | |
| 5 | g.69420054C>T | CA445083804 | MARVELD2 | c.669C>T (p.Asn223=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420055T>A | CA359924180 | MARVELD2 | c.670T>A (p.Leu224Met) | |
| 5 | g.69420055T>C | CA445083808 | MARVELD2 | c.670T>C (p.Leu224=) | |
| 5 | g.69420055T>G | CA359924182 | MARVELD2 | c.670T>G (p.Leu224Val) | |
| 5 | g.69420056T>A | CA359924185 | MARVELD2 | c.671T>A (p.Leu224Ter) | |
| 5 | g.69420056T>C | CA359924187 | MARVELD2 | c.671T>C (p.Leu224Ser) | |
| 5 | g.69420056T>G | CA359924189 | MARVELD2 | c.671T>G (p.Leu224Trp) | |
| 5 | g.69420057G>A | CA445083815 | MARVELD2 | c.672G>A (p.Leu224=) | |
| 5 | g.69420057G>C | CA359924190 | MARVELD2 | c.672G>C (p.Leu224Phe) | |
| 5 | g.69420057G= | CA1553916820 | MARVELD2 | c.672G= (p.Leu224=) | |
| 5 | g.69420057G>T | CA3294089 | MARVELD2 | c.672G>T (p.Leu224Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420058T>A | CA359924194 | MARVELD2 | c.673T>A (p.Phe225Ile) | |
| 5 | g.69420058T>C | CA359924196 | MARVELD2 | c.673T>C (p.Phe225Leu) | |
| 5 | g.69420058T>G | CA359924198 | MARVELD2 | c.673T>G (p.Phe225Val) | |
| 5 | g.69420059T>A | CA359924203 | MARVELD2 | c.674T>A (p.Phe225Tyr) | |
| 5 | g.69420059T>C | CA359924204 | MARVELD2 | c.674T>C (p.Phe225Ser) | |
| 5 | g.69420059T>G | CA359924201 | MARVELD2 | c.674T>G (p.Phe225Cys) | |
| 5 | g.69420060T>A | CA359924207 | MARVELD2 | c.675T>A (p.Phe225Leu) | |
| 5 | g.69420060T>C | CA445083826 | MARVELD2 | c.675T>C (p.Phe225=) | |
| 5 | g.69420060T>G | CA359924209 | MARVELD2 | c.675T>G (p.Phe225Leu) | |
| 5 | g.69420061G>A | CA359924211 | MARVELD2 | c.676G>A (p.Gly226Arg) | |
| 5 | g.69420061G>C | CA359924213 | MARVELD2 | c.676G>C (p.Gly226Arg) | |
| 5 | g.69420061G>T | CA359924215 | MARVELD2 | c.676G>T (p.Gly226Ter) | |
| 5 | g.69420062G>A | CA359924217 | MARVELD2 | c.677G>A (p.Gly226Glu) | |
| 5 | g.69420062G>C | CA359924219 | MARVELD2 | c.677G>C (p.Gly226Ala) | |
| 5 | g.69420062G>T | CA359924221 | MARVELD2 | c.677G>T (p.Gly226Val) | |
| 5 | g.69420063A= | CA1553916824 | MARVELD2 | c.678A= (p.Gly226=) | |
| 5 | g.69420063A>C | CA445083833 | MARVELD2 | c.678A>C (p.Gly226=) | |
| 5 | g.69420063A>G | CA445083834 | MARVELD2 | c.678A>G (p.Gly226=) | dbSNP |
| 5 | g.69420063A>T | CA119991764 | MARVELD2 | c.678A>T (p.Gly226=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420064T>A | CA359924224 | MARVELD2 | c.679T>A (p.Tyr227Asn) | |
| 5 | g.69420064T>C | CA359924226 | MARVELD2 | c.679T>C (p.Tyr227His) | |
| 5 | g.69420064T>G | CA359924228 | MARVELD2 | c.679T>G (p.Tyr227Asp) | |
| 5 | g.69420065A= | CA1553916827 | MARVELD2 | c.680A= (p.Tyr227=) | |
| 5 | g.69420065A>C | CA359924233 | MARVELD2 | c.680A>C (p.Tyr227Ser) | |
| 5 | g.69420065A>G | CA3294090 | MARVELD2 | c.680A>G (p.Tyr227Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420065A>T | CA359924231 | MARVELD2 | c.680A>T (p.Tyr227Phe) | |
| 5 | g.69420066T>A | CA359924236 | MARVELD2 | c.681T>A (p.Tyr227Ter) | |
| 5 | g.69420066T>C | CA445083839 | MARVELD2 | c.681T>C (p.Tyr227=) | |
| 5 | g.69420066T>G | CA359924238 | MARVELD2 | c.681T>G (p.Tyr227Ter) | |
| 5 | g.69420067T>A | CA359924240 | MARVELD2 | c.682T>A (p.Ser228Thr) | |
| 5 | g.69420067T>C | CA359924242 | MARVELD2 | c.682T>C (p.Ser228Pro) | |
| 5 | g.69420067T>G | CA359924244 | MARVELD2 | c.682T>G (p.Ser228Ala) | |
| 5 | g.69420068C>A | CA359924249 | MARVELD2 | c.683C>A (p.Ser228Ter) | |
| 5 | g.69420068C>G | CA359924246 | MARVELD2 | c.683C>G (p.Ser228Ter) | |
| 5 | g.69420068C>T | CA359924248 | MARVELD2 | c.683C>T (p.Ser228Leu) | |
| 5 | g.69420069A>C | CA445083852 | MARVELD2 | c.684A>C (p.Ser228=) | |
| 5 | g.69420069A>G | CA445083854 | MARVELD2 | c.684A>G (p.Ser228=) | gnomAD v4 |
| 5 | g.69420069A>T | CA445083855 | MARVELD2 | c.684A>T (p.Ser228=) | |
| 5 | g.69420070C>A | CA359924251 | MARVELD2 | c.685C>A (p.Gln229Lys) | |
| 5 | g.69420070C= | CA1553916830 | MARVELD2 | c.685C= (p.Gln229=) | |
| 5 | g.69420070C>G | CA119991779 | MARVELD2 | c.685C>G (p.Gln229Glu) | dbSNP |
| 5 | g.69420070C>T | CA359924254 | MARVELD2 | c.685C>T (p.Gln229Ter) | |
| 5 | g.69420071A>C | CA359924256 | MARVELD2 | c.686A>C (p.Gln229Pro) | |
| 5 | g.69420071A>G | CA359924259 | MARVELD2 | c.686A>G (p.Gln229Arg) | |
| 5 | g.69420071A>T | CA359924260 | MARVELD2 | c.686A>T (p.Gln229Leu) | |
| 5 | g.69420072A= | CA1553916833 | MARVELD2 | c.687A= (p.Gln229=) | |
| 5 | g.69420072A>C | CA359924262 | MARVELD2 | c.687A>C (p.Gln229His) | |
| 5 | g.69420072A>G | CA445083859 | MARVELD2 | c.687A>G (p.Gln229=) | dbSNP gnomAD v4 |
| 5 | g.69420072A>T | CA359924264 | MARVELD2 | c.687A>T (p.Gln229His) | |
| 5 | g.69420073C>A | CA3294091 | MARVELD2 | c.688C>A (p.Pro230Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420073C= | CA1553916835 | MARVELD2 | c.688C= (p.Pro230=) | |
| 5 | g.69420073C>G | CA359924266 | MARVELD2 | c.688C>G (p.Pro230Ala) | gnomAD v4 |
| 5 | g.69420073C>T | CA359924268 | MARVELD2 | c.688C>T (p.Pro230Ser) | dbSNP gnomAD v4 |
| 5 | g.69420074C>A | CA359924269 | MARVELD2 | c.689C>A (p.Pro230Gln) | |
| 5 | g.69420074C= | CA1553916840 | MARVELD2 | c.689C= (p.Pro230=) | |
| 5 | g.69420074C>G | CA359924272 | MARVELD2 | c.689C>G (p.Pro230Arg) | |
| 5 | g.69420074C>T | CA119991804 | MARVELD2 | c.689C>T (p.Pro230Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420075G>A | CA3294092 | MARVELD2 | c.690G>A (p.Pro230=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420075G>C | CA445083867 | MARVELD2 | c.690G>C (p.Pro230=) | dbSNP |
| 5 | g.69420075G= | CA1553916844 | MARVELD2 | c.690G= (p.Pro230=) | |
| 5 | g.69420075G>T | CA445083869 | MARVELD2 | c.690G>T (p.Pro230=) | |
| 5 | g.69420076T>A | CA359924281 | MARVELD2 | c.691T>A (p.Tyr231Asn) | |
| 5 | g.69420076T>C | CA359924277 | MARVELD2 | c.691T>C (p.Tyr231His) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69420076T>G | CA359924279 | MARVELD2 | c.691T>G (p.Tyr231Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69420076T= | CA1553916850 | MARVELD2 | c.691T= (p.Tyr231=) | |
| 5 | g.69420077A>C | CA359924283 | MARVELD2 | c.692A>C (p.Tyr231Ser) | |
| 5 | g.69420077A>G | CA359924285 | MARVELD2 | c.692A>G (p.Tyr231Cys) | gnomAD v4 |
| 5 | g.69420077A>T | CA359924287 | MARVELD2 | c.692A>T (p.Tyr231Phe) | |
| 5 | g.69420078T>A | CA359924289 | MARVELD2 | c.693T>A (p.Tyr231Ter) | |
| 5 | g.69420078T>C | CA445083875 | MARVELD2 | c.693T>C (p.Tyr231=) | |
| 5 | g.69420078T>G | CA359924290 | MARVELD2 | c.693T>G (p.Tyr231Ter) | |
| 5 | g.69420079G>A | CA3294093 | MARVELD2 | c.694G>A (p.Gly232Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420079G>C | CA359924293 | MARVELD2 | c.694G>C (p.Gly232Arg) | |
| 5 | g.69420079G= | CA1553916855 | MARVELD2 | c.694G= (p.Gly232=) | |
| 5 | g.69420079G>T | CA359924292 | MARVELD2 | c.694G>T (p.Gly232Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69420080G>A | CA359924294 | MARVELD2 | c.695G>A (p.Gly232Asp) | gnomAD v4 |
| 5 | g.69420080G>C | CA359924295 | MARVELD2 | c.695G>C (p.Gly232Ala) | gnomAD v4 |
| 5 | g.69420080G>T | CA359924296 | MARVELD2 | c.695G>T (p.Gly232Val) | gnomAD v4 |
| 5 | g.69420081C>A | CA445083881 | MARVELD2 | c.696C>A (p.Gly232=) | |
| 5 | g.69420081C>G | CA445083882 | MARVELD2 | c.696C>G (p.Gly232=) | |
| 5 | g.69420081C>T | CA445083884 | MARVELD2 | c.696C>T (p.Gly232=) | gnomAD v4 |
| 5 | g.69420082A= | CA1553916857 | MARVELD2 | c.697A= (p.Met233=) | |
| 5 | g.69420082A>C | CA359924297 | MARVELD2 | c.697A>C (p.Met233Leu) | |
| 5 | g.69420082A>G | CA359924298 | MARVELD2 | c.697A>G (p.Met233Val) | dbSNP |
| 5 | g.69420082A>T | CA359924299 | MARVELD2 | c.697A>T (p.Met233Leu) | gnomAD v4 |
| 5 | g.69420083T>A | CA359924300 | MARVELD2 | c.698T>A (p.Met233Lys) | |
| 5 | g.69420083T>C | CA359924301 | MARVELD2 | c.698T>C (p.Met233Thr) | |
| 5 | g.69420083T>G | CA359924302 | MARVELD2 | c.698T>G (p.Met233Arg) | |
| 5 | g.69420084G>A | CA359924303 | MARVELD2 | c.699G>A (p.Met233Ile) | |
| 5 | g.69420084G>C | CA359924304 | MARVELD2 | c.699G>C (p.Met233Ile) | |
| 5 | g.69420084G>T | CA359924305 | MARVELD2 | c.699G>T (p.Met233Ile) | |
| 5 | g.69420085G>A | CA359924306 | MARVELD2 | c.700G>A (p.Gly234Arg) | |
| 5 | g.69420085G>C | CA359924308 | MARVELD2 | c.700G>C (p.Gly234Arg) | |
| 5 | g.69420085G>T | CA359924307 | MARVELD2 | c.700G>T (p.Gly234Ter) | |
| 5 | g.69420086G>A | CA359924309 | MARVELD2 | c.701G>A (p.Gly234Glu) | |
| 5 | g.69420086G>C | CA359924310 | MARVELD2 | c.701G>C (p.Gly234Ala) | |
| 5 | g.69420086G= | CA1553916859 | MARVELD2 | c.701G= (p.Gly234=) | |
| 5 | g.69420086G>T | CA3294094 | MARVELD2 | c.701G>T (p.Gly234Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420087A>C | CA445083906 | MARVELD2 | c.702A>C (p.Gly234=) | gnomAD v4 |
| 5 | g.69420087A>G | CA445083905 | MARVELD2 | c.702A>G (p.Gly234=) | gnomAD v4 |
| 5 | g.69420087A>T | CA445083902 | MARVELD2 | c.702A>T (p.Gly234=) | |
| 5 | g.69420088G>A | CA359924311 | MARVELD2 | c.703G>A (p.Gly235Ser) | COSMIC |
| 5 | g.69420088G>C | CA359924312 | MARVELD2 | c.703G>C (p.Gly235Arg) | |
| 5 | g.69420088G>T | CA359924313 | MARVELD2 | c.703G>T (p.Gly235Cys) | |
| 5 | g.69420089G>A | CA359924314 | MARVELD2 | c.704G>A (p.Gly235Asp) | |
| 5 | g.69420089G>C | CA359924315 | MARVELD2 | c.704G>C (p.Gly235Ala) | |
| 5 | g.69420089G= | CA1553916865 | MARVELD2 | c.704G= (p.Gly235=) | |
| 5 | g.69420089G>T | CA359924316 | MARVELD2 | c.704G>T (p.Gly235Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420090C>A | CA445083911 | MARVELD2 | c.705C>A (p.Gly235=) | |
| 5 | g.69420090C= | CA1553916868 | MARVELD2 | c.705C= (p.Gly235=) | |
| 5 | g.69420090C>G | CA445083914 | MARVELD2 | c.705C>G (p.Gly235=) | |
| 5 | g.69420090C>T | CA445083913 | MARVELD2 | c.705C>T (p.Gly235=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420091G>A | CA3294095 | MARVELD2 | c.706G>A (p.Val236Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420091G>C | CA359924317 | MARVELD2 | c.706G>C (p.Val236Leu) | |
| 5 | g.69420091G= | CA1553916872 | MARVELD2 | c.706G= (p.Val236=) | |
| 5 | g.69420091G>T | CA359924318 | MARVELD2 | c.706G>T (p.Val236Phe) | |
| 5 | g.69420092T>A | CA359924321 | MARVELD2 | c.707T>A (p.Val236Asp) | |
| 5 | g.69420092T>C | CA359924319 | MARVELD2 | c.707T>C (p.Val236Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420092T>G | CA359924320 | MARVELD2 | c.707T>G (p.Val236Gly) | |
| 5 | g.69420092T= | CA1553916875 | MARVELD2 | c.707T= (p.Val236=) | |
| 5 | g.69420093T>A | CA445083920 | MARVELD2 | c.708T>A (p.Val236=) | |
| 5 | g.69420093T>C | CA445083921 | MARVELD2 | c.708T>C (p.Val236=) | |
| 5 | g.69420093T>G | CA445083923 | MARVELD2 | c.708T>G (p.Val236=) | |
| 5 | g.69420094G>A | CA359924322 | MARVELD2 | c.709G>A (p.Gly237Ser) | |
| 5 | g.69420094G>C | CA359924323 | MARVELD2 | c.709G>C (p.Gly237Arg) | |
| 5 | g.69420094G>T | CA359924324 | MARVELD2 | c.709G>T (p.Gly237Cys) | |
| 5 | g.69420095G>A | CA359924325 | MARVELD2 | c.710G>A (p.Gly237Asp) | |
| 5 | g.69420095G>C | CA3294096 | MARVELD2 | c.710G>C (p.Gly237Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420095G= | CA1553916878 | MARVELD2 | c.710G= (p.Gly237=) | |
| 5 | g.69420095G>T | CA359924326 | MARVELD2 | c.710G>T (p.Gly237Val) | |
| 5 | g.69420096T>A | CA445083932 | MARVELD2 | c.711T>A (p.Gly237=) | |
| 5 | g.69420096T>C | CA445083934 | MARVELD2 | c.711T>C (p.Gly237=) | |
| 5 | g.69420096T>G | CA445083936 | MARVELD2 | c.711T>G (p.Gly237=) | |
| 5 | g.69420097G>A | CA359924327 | MARVELD2 | c.712G>A (p.Gly238Arg) | |
| 5 | g.69420097G>C | CA359924328 | MARVELD2 | c.712G>C (p.Gly238Arg) | |
| 5 | g.69420097G>T | CA359924329 | MARVELD2 | c.712G>T (p.Gly238Ter) | |
| 5 | g.69420098G>A | CA359924330 | MARVELD2 | c.713G>A (p.Gly238Glu) | |
| 5 | g.69420098G>C | CA359924331 | MARVELD2 | c.713G>C (p.Gly238Ala) | |
| 5 | g.69420098G>T | CA359924332 | MARVELD2 | c.713G>T (p.Gly238Val) | |
| 5 | g.69420099A>C | CA445083943 | MARVELD2 | c.714A>C (p.Gly238=) | |
| 5 | g.69420099A>G | CA445083944 | MARVELD2 | c.714A>G (p.Gly238=) | |
| 5 | g.69420099A>T | CA445083945 | MARVELD2 | c.714A>T (p.Gly238=) | gnomAD v4 |
| 5 | g.69420100T>A | CA359924333 | MARVELD2 | c.715T>A (p.Leu239Met) | |
| 5 | g.69420100T>C | CA445083947 | MARVELD2 | c.715T>C (p.Leu239=) | dbSNP |
| 5 | g.69420100T>G | CA359924334 | MARVELD2 | c.715T>G (p.Leu239Val) | |
| 5 | g.69420101T>A | CA359924335 | MARVELD2 | c.716T>A (p.Leu239Ter) | |
| 5 | g.69420101T>C | CA359924336 | MARVELD2 | c.716T>C (p.Leu239Ser) | |
| 5 | g.69420101T>G | CA3294097 | MARVELD2 | c.716T>G (p.Leu239Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420101T= | CA1553916881 | MARVELD2 | c.716T= (p.Leu239=) | |
| 5 | g.69420102G>A | CA445083955 | MARVELD2 | c.717G>A (p.Leu239=) | |
| 5 | g.69420102G>C | CA119991848 | MARVELD2 | c.717G>C (p.Leu239Phe) | dbSNP gnomAD v4 |
| 5 | g.69420102G= | CA1553916884 | MARVELD2 | c.717G= (p.Leu239=) | |
| 5 | g.69420102G>T | CA359924337 | MARVELD2 | c.717G>T (p.Leu239Phe) | |
| 5 | g.69420103G>A | CA359924338 | MARVELD2 | c.718G>A (p.Gly240Ser) | |
| 5 | g.69420103G>C | CA359924339 | MARVELD2 | c.718G>C (p.Gly240Arg) | |
| 5 | g.69420103G>T | CA359924340 | MARVELD2 | c.718G>T (p.Gly240Cys) | |
| 5 | g.69420104G>A | CA359924343 | MARVELD2 | c.719G>A (p.Gly240Asp) | |
| 5 | g.69420104G>C | CA359924342 | MARVELD2 | c.719G>C (p.Gly240Ala) | |
| 5 | g.69420104G>T | CA359924341 | MARVELD2 | c.719G>T (p.Gly240Val) | |
| 5 | g.69420105C>A | CA445083970 | MARVELD2 | c.720C>A (p.Gly240=) | dbSNP gnomAD v4 |
| 5 | g.69420105C= | CA1553916888 | MARVELD2 | c.720C= (p.Gly240=) | |
| 5 | g.69420105C>G | CA445083966 | MARVELD2 | c.720C>G (p.Gly240=) | |
| 5 | g.69420105C>T | CA119991854 | MARVELD2 | c.720C>T (p.Gly240=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420106A>C | CA359924344 | MARVELD2 | c.721A>C (p.Ser241Arg) | |
| 5 | g.69420106A>G | CA359924345 | MARVELD2 | c.721A>G (p.Ser241Gly) | |
| 5 | g.69420106A>T | CA359924346 | MARVELD2 | c.721A>T (p.Ser241Cys) | |
| 5 | g.69420107G>A | CA3294098 | MARVELD2 | c.722G>A (p.Ser241Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420107G>C | CA359924347 | MARVELD2 | c.722G>C (p.Ser241Thr) | |
| 5 | g.69420107G= | CA1553916892 | MARVELD2 | c.722G= (p.Ser241=) | |
| 5 | g.69420107G>T | CA359924348 | MARVELD2 | c.722G>T (p.Ser241Ile) | |
| 5 | g.69420108T>A | CA359924350 | MARVELD2 | c.723T>A (p.Ser241Arg) | |
| 5 | g.69420108T>C | CA3294099 | MARVELD2 | c.723T>C (p.Ser241=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420108T>G | CA359924349 | MARVELD2 | c.723T>G (p.Ser241Arg) | |
| 5 | g.69420108T= | CA1553916896 | MARVELD2 | c.723T= (p.Ser241=) | |
| 5 | g.69420109A= | CA1553916900 | MARVELD2 | c.724A= (p.Met242=) c.724A= (p.Ile242=) | |
| 5 | g.69420109A>C | CA359924351 | MARVELD2 | c.724A>C (p.Met242Leu) c.724A>C (p.Ile242Leu) | |
| 5 | g.69420109A>G | CA3294100 | MARVELD2 | c.724A>G (p.Met242Val) c.724A>G (p.Ile242Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420109A>T | CA359924352 | MARVELD2 | c.724A>T (p.Met242Leu) c.724A>T (p.Ile242Phe) | |
| 5 | g.69420110T>A | CA359924353 | MARVELD2 | c.725T>A (p.Met242Lys) c.725T>A (p.Ile242Asn) | |
| 5 | g.69420110T>C | CA359924354 | MARVELD2 | c.725T>C (p.Met242Thr) c.725T>C (p.Ile242Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420110T>G | CA359924355 | MARVELD2 | c.725T>G (p.Met242Arg) c.725T>G (p.Ile242Ser) | |
| 5 | g.69420110T= | CA1553916902 | MARVELD2 | c.725T= (p.Met242=) c.725T= (p.Ile242=) | |
| 5 | g.69420111G>A | CA3294101 | MARVELD2 | c.726G>A (p.Met242Ile) c.725+1G>A (n.725+1G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420111G>C | CA359924356 | MARVELD2 | c.726G>C (p.Met242Ile) c.725+1G>C (n.725+1G>C) | |
| 5 | g.69420111G= | CA1553916904 | MARVELD2 | c.726G= (p.Met242=) c.725+1G= (n.725+1G=) | |
| 5 | g.69420111G>T | CA359924357 | MARVELD2 | c.726G>T (p.Met242Ile) c.725+1G>T (n.725+1G>T) | |
| 5 | g.69420112T>A | CA359924358 | MARVELD2 | c.727T>A (p.Tyr243Asn) c.725+2T>A (n.725+2T>A) | |
| 5 | g.69420112T>C | CA359924359 | MARVELD2 | c.727T>C (p.Tyr243His) c.725+2T>C (n.725+2T>C) | |
| 5 | g.69420112T>G | CA359924360 | MARVELD2 | c.727T>G (p.Tyr243Asp) c.725+2T>G (n.725+2T>G) | |
| 5 | g.69420113A= | CA1553916905 | MARVELD2 | c.728A= (p.Tyr243=) c.725+3A= (n.725+3A=) | |
| 5 | g.69420113A>C | CA359924361 | MARVELD2 | c.728A>C (p.Tyr243Ser) c.725+3A>C (n.725+3A>C) | |
| 5 | g.69420113A>G | CA3294102 | MARVELD2 | c.728A>G (p.Tyr243Cys) c.725+3A>G (n.725+3A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420113A>T | CA359924362 | MARVELD2 | c.728A>T (p.Tyr243Phe) c.725+3A>T (n.725+3A>T) | dbSNP |
| 5 | g.69420114T>A | CA359924363 | MARVELD2 | c.729T>A (p.Tyr243Ter) c.725+4T>A (n.725+4T>A) | |
| 5 | g.69420114T>C | CA445083988 | MARVELD2 | c.729T>C (p.Tyr243=) c.725+4T>C (n.725+4T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420114T>G | CA359924364 | MARVELD2 | c.729T>G (p.Tyr243Ter) c.725+4T>G (n.725+4T>G) | gnomAD v4 |
| 5 | g.69420114T= | CA1553916907 | MARVELD2 | c.729T= (p.Tyr243=) c.725+4T= (n.725+4T=) | |
| 5 | g.69420115G>A | CA359924365 | MARVELD2 | c.730G>A (p.Gly244Arg) c.725+5G>A (n.725+5G>A) | dbSNP gnomAD v4 |
| 5 | g.69420115G>C | CA359924366 | MARVELD2 | c.730G>C (p.Gly244Arg) c.725+5G>C (n.725+5G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420115G= | CA1553916908 | MARVELD2 | c.730G= (p.Gly244=) c.725+5G= (n.725+5G=) | |
| 5 | g.69420115G>T | CA359924367 | MARVELD2 | c.730G>T (p.Gly244Trp) c.725+5G>T (n.725+5G>T) | gnomAD v4 |
| 5 | g.69420119dup | CA2766864403 | MARVELD2 | c.734dup (p.Tyr246LeufsTer7) c.725+9dup (n.725+9dup) | |
| 5 | g.69420116G>A | CA359924368 | MARVELD2 | c.731G>A (p.Gly244Glu) c.725+6G>A (n.725+6G>A) | |
| 5 | g.69420116G>C | CA359924369 | MARVELD2 | c.731G>C (p.Gly244Ala) c.725+6G>C (n.725+6G>C) | dbSNP |
| 5 | g.69420116G= | CA1553916910 | MARVELD2 | c.731G= (p.Gly244=) c.725+6G= (n.725+6G=) | |
| 5 | g.69420116G>T | CA359924370 | MARVELD2 | c.731G>T (p.Gly244Val) c.725+6G>T (n.725+6G>T) | gnomAD v4 |
| 5 | g.69420117G>A | CA3294103 | MARVELD2 | c.732G>A (p.Gly244=) c.725+7G>A (n.725+7G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420117G>C | CA445083991 | MARVELD2 | c.732G>C (p.Gly244=) c.725+7G>C (n.725+7G>C) | |
| 5 | g.69420117G= | CA1553916912 | MARVELD2 | c.732G= (p.Gly244=) c.725+7G= (n.725+7G=) | |
| 5 | g.69420117G>T | CA445083992 | MARVELD2 | c.732G>T (p.Gly244=) c.725+7G>T (n.725+7G>T) | |
| 5 | g.69420118G>A | CA359924371 | MARVELD2 | c.733G>A (p.Gly245Ser) c.725+8G>A (n.725+8G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420118G>C | CA359924372 | MARVELD2 | c.733G>C (p.Gly245Arg) c.725+8G>C (n.725+8G>C) | |
| 5 | g.69420118G= | CA1553916914 | MARVELD2 | c.733G= (p.Gly245=) c.725+8G= (n.725+8G=) | |
| 5 | g.69420118G>T | CA359924373 | MARVELD2 | c.733G>T (p.Gly245Cys) c.725+8G>T (n.725+8G>T) | |
| 5 | g.69420119G>A | CA359924376 | MARVELD2 | c.734G>A (p.Gly245Asp) c.725+9G>A (n.725+9G>A) | |
| 5 | g.69420119G>C | CA359924374 | MARVELD2 | c.734G>C (p.Gly245Ala) c.725+9G>C (n.725+9G>C) | |
| 5 | g.69420119G>T | CA359924375 | MARVELD2 | c.734G>T (p.Gly245Val) c.725+9G>T (n.725+9G>T) | |
| 5 | g.69420120del | CA2674131320 | MARVELD2 | c.735del (p.Tyr246IlefsTer17) c.725+10del (n.725+10del) | gnomAD v4 |
| 5 | g.69420120C>A | CA445083997 | MARVELD2 | c.735C>A (p.Gly245=) c.725+10C>A (n.725+10C>A) | |
| 5 | g.69420120C= | CA1553916918 | MARVELD2 | c.735C= (p.Gly245=) c.725+10C= (n.725+10C=) | |
| 5 | g.69420120C>G | CA445083999 | MARVELD2 | c.735C>G (p.Gly245=) c.725+10C>G (n.725+10C>G) | |
| 5 | g.69420120C>T | CA445084001 | MARVELD2 | c.735C>T (p.Gly245=) c.725+10C>T (n.725+10C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420121T>A | CA359924377 | MARVELD2 | c.736T>A (p.Tyr246Asn) c.725+11T>A (n.725+11T>A) | |
| 5 | g.69420121T>C | CA359924378 | MARVELD2 | c.736T>C (p.Tyr246His) c.725+11T>C (n.725+11T>C) | gnomAD v4 |
| 5 | g.69420121T>G | CA359924379 | MARVELD2 | c.736T>G (p.Tyr246Asp) c.725+11T>G (n.725+11T>G) | |
| 5 | g.69420122A= | CA1553916921 | MARVELD2 | c.737A= (p.Tyr246=) c.725+12A= (n.725+12A=) | |
| 5 | g.69420122A>C | CA359924380 | MARVELD2 | c.737A>C (p.Tyr246Ser) c.725+12A>C (n.725+12A>C) | |
| 5 | g.69420122A>G | CA3294104 | MARVELD2 | c.737A>G (p.Tyr246Cys) c.725+12A>G (n.725+12A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420122A>T | CA359924381 | MARVELD2 | c.737A>T (p.Tyr246Phe) c.725+12A>T (n.725+12A>T) | gnomAD v4 |
| 5 | g.69420123T>A | CA359924382 | MARVELD2 | c.738T>A (p.Tyr246Ter) c.725+13T>A (n.725+13T>A) | |
| 5 | g.69420123T>C | CA445084010 | MARVELD2 | c.738T>C (p.Tyr246=) c.725+13T>C (n.725+13T>C) | |
| 5 | g.69420123T>G | CA359924383 | MARVELD2 | c.738T>G (p.Tyr246Ter) c.725+13T>G (n.725+13T>G) | |
| 5 | g.69420124del | CA445084011 | MARVELD2 | c.739del (p.Tyr247ThrfsTer16) c.725+14del (n.725+14del) |