| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.69419704A>C | CA445083194 | MARVELD2 | c.319A>C (p.Arg107=) | |
| 5 | g.69419704A>G | CA359922994 | MARVELD2 | c.319A>G (p.Arg107Gly) | |
| 5 | g.69419704A>T | CA359922995 | MARVELD2 | c.319A>T (p.Arg107Trp) | |
| 5 | g.69419705G>A | CA3294017 | MARVELD2 | c.320G>A (p.Arg107Lys) | dbSNP ExAC gnomAD v2 COSMIC |
| 5 | g.69419705G>C | CA359923004 | MARVELD2 | c.320G>C (p.Arg107Thr) | |
| 5 | g.69419705G= | CA1553916066 | MARVELD2 | c.320G= (p.Arg107=) | |
| 5 | g.69419705G>T | CA359923007 | MARVELD2 | c.320G>T (p.Arg107Met) | |
| 5 | g.69419706G>A | CA445083197 | MARVELD2 | c.321G>A (p.Arg107=) | dbSNP gnomAD v4 |
| 5 | g.69419706G>C | CA359923010 | MARVELD2 | c.321G>C (p.Arg107Ser) | |
| 5 | g.69419706G= | CA1553916069 | MARVELD2 | c.321G= (p.Arg107=) | |
| 5 | g.69419706G>T | CA359923012 | MARVELD2 | c.321G>T (p.Arg107Ser) | |
| 5 | g.69419707T>A | CA359923015 | MARVELD2 | c.322T>A (p.Tyr108Asn) | |
| 5 | g.69419707T>C | CA359923017 | MARVELD2 | c.322T>C (p.Tyr108His) | |
| 5 | g.69419707T>G | CA359923019 | MARVELD2 | c.322T>G (p.Tyr108Asp) | |
| 5 | g.69419708A>C | CA359923022 | MARVELD2 | c.323A>C (p.Tyr108Ser) | |
| 5 | g.69419708A>G | CA359923035 | MARVELD2 | c.323A>G (p.Tyr108Cys) | gnomAD v4 |
| 5 | g.69419708A>T | CA359923039 | MARVELD2 | c.323A>T (p.Tyr108Phe) | |
| 5 | g.69419709C>A | CA359923041 | MARVELD2 | c.324C>A (p.Tyr108Ter) | |
| 5 | g.69419709C= | CA1553916070 | MARVELD2 | c.324C= (p.Tyr108=) | |
| 5 | g.69419709C>G | CA359923045 | MARVELD2 | c.324C>G (p.Tyr108Ter) | |
| 5 | g.69419709C>T | CA445083206 | MARVELD2 | c.324C>T (p.Tyr108=) | dbSNP |
| 5 | g.69419710A>C | CA359923049 | MARVELD2 | c.325A>C (p.Ile109Leu) | gnomAD v4 |
| 5 | g.69419710A>G | CA359923051 | MARVELD2 | c.325A>G (p.Ile109Val) | |
| 5 | g.69419710A>T | CA359923053 | MARVELD2 | c.325A>T (p.Ile109Phe) | |
| 5 | g.69419711T>A | CA359923056 | MARVELD2 | c.326T>A (p.Ile109Asn) | |
| 5 | g.69419711T>C | CA359923059 | MARVELD2 | c.326T>C (p.Ile109Thr) | |
| 5 | g.69419711T>G | CA359923062 | MARVELD2 | c.326T>G (p.Ile109Ser) | |
| 5 | g.69419712C>A | CA445083223 | MARVELD2 | c.327C>A (p.Ile109=) | |
| 5 | g.69419712C= | CA1553916072 | MARVELD2 | c.327C= (p.Ile109=) | |
| 5 | g.69419712C>G | CA359923064 | MARVELD2 | c.327C>G (p.Ile109Met) | |
| 5 | g.69419712C>T | CA445083226 | MARVELD2 | c.327C>T (p.Ile109=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69419712_69419713delinsCT | CA1553916073 | MARVELD2 | c.327_328delinsCT (p.Ile109=) | |
| 5 | g.69419713del | CA3294018 | MARVELD2 | c.328del (p.Ser110ProfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419713T>A | CA359923067 | MARVELD2 | c.328T>A (p.Ser110Thr) | |
| 5 | g.69419713T>C | CA359923070 | MARVELD2 | c.328T>C (p.Ser110Pro) | |
| 5 | g.69419713T>G | CA359923073 | MARVELD2 | c.328T>G (p.Ser110Ala) | |
| 5 | g.69419714C>A | CA359923087 | MARVELD2 | c.329C>A (p.Ser110Tyr) | |
| 5 | g.69419714C>G | CA359923084 | MARVELD2 | c.329C>G (p.Ser110Cys) | |
| 5 | g.69419714C>T | CA359923081 | MARVELD2 | c.329C>T (p.Ser110Phe) | |
| 5 | g.69419715del | CA2766864333 | MARVELD2 | c.330del (p.Asp111MetfsTer?) | |
| 5 | g.69419715C>A | CA445083234 | MARVELD2 | c.330C>A (p.Ser110=) | dbSNP gnomAD v2 |
| 5 | g.69419715C= | CA1553916081 | MARVELD2 | c.330C= (p.Ser110=) | |
| 5 | g.69419715C>G | CA445083233 | MARVELD2 | c.330C>G (p.Ser110=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419715C>T | CA3294019 | MARVELD2 | c.330C>T (p.Ser110=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419716G>A | CA133015 | MARVELD2 | c.331G>A (p.Asp111Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.69419716G>C | CA359923092 | MARVELD2 | c.331G>C (p.Asp111His) | |
| 5 | g.69419716G= | CA1553916086 | MARVELD2 | c.331G= (p.Asp111=) | |
| 5 | g.69419716G>T | CA359923095 | MARVELD2 | c.331G>T (p.Asp111Tyr) | |
| 5 | g.69419717A>C | CA359923098 | MARVELD2 | c.332A>C (p.Asp111Ala) | |
| 5 | g.69419717A>G | CA359923102 | MARVELD2 | c.332A>G (p.Asp111Gly) | |
| 5 | g.69419717A>T | CA359923105 | MARVELD2 | c.332A>T (p.Asp111Val) | |
| 5 | g.69419718T>A | CA359923108 | MARVELD2 | c.333T>A (p.Asp111Glu) | |
| 5 | g.69419718T>C | CA445083242 | MARVELD2 | c.333T>C (p.Asp111=) | dbSNP gnomAD v4 |
| 5 | g.69419718T>G | CA359923111 | MARVELD2 | c.333T>G (p.Asp111Glu) | |
| 5 | g.69419719G>A | CA359923113 | MARVELD2 | c.334G>A (p.Gly112Arg) | |
| 5 | g.69419719G>C | CA359923114 | MARVELD2 | c.334G>C (p.Gly112Arg) | |
| 5 | g.69419719G>T | CA359923117 | MARVELD2 | c.334G>T (p.Gly112Ter) | |
| 5 | g.69419720G>A | CA359923120 | MARVELD2 | c.335G>A (p.Gly112Glu) | |
| 5 | g.69419720G>C | CA359923122 | MARVELD2 | c.335G>C (p.Gly112Ala) | |
| 5 | g.69419720G>T | CA359923125 | MARVELD2 | c.335G>T (p.Gly112Val) | |
| 5 | g.69419721A= | CA1553916093 | MARVELD2 | c.336A= (p.Gly112=) | |
| 5 | g.69419721A>C | CA445083251 | MARVELD2 | c.336A>C (p.Gly112=) | |
| 5 | g.69419721A>G | CA445083253 | MARVELD2 | c.336A>G (p.Gly112=) | gnomAD v4 |
| 5 | g.69419721A>T | CA3294020 | MARVELD2 | c.336A>T (p.Gly112=) | dbSNP ExAC gnomAD v4 |
| 5 | g.69419722G>A | CA3294021 | MARVELD2 | c.337G>A (p.Val113Met) | dbSNP ExAC gnomAD v2 |
| 5 | g.69419722G>C | CA359923131 | MARVELD2 | c.337G>C (p.Val113Leu) | |
| 5 | g.69419722G= | CA1553916096 | MARVELD2 | c.337G= (p.Val113=) | |
| 5 | g.69419722G>T | CA359923133 | MARVELD2 | c.337G>T (p.Val113Leu) | |
| 5 | g.69419723T>A | CA359923136 | MARVELD2 | c.338T>A (p.Val113Glu) | |
| 5 | g.69419723T>C | CA359923139 | MARVELD2 | c.338T>C (p.Val113Ala) | |
| 5 | g.69419723T>G | CA359923141 | MARVELD2 | c.338T>G (p.Val113Gly) | |
| 5 | g.69419724G>A | CA445083258 | MARVELD2 | c.339G>A (p.Val113=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419724G>C | CA445083261 | MARVELD2 | c.339G>C (p.Val113=) | gnomAD v4 |
| 5 | g.69419724G= | CA1553916102 | MARVELD2 | c.339G= (p.Val113=) | |
| 5 | g.69419724G>T | CA445083263 | MARVELD2 | c.339G>T (p.Val113=) | |
| 5 | g.69419725G>A | CA359923144 | MARVELD2 | c.340G>A (p.Glu114Lys) | |
| 5 | g.69419725G>C | CA359923147 | MARVELD2 | c.340G>C (p.Glu114Gln) | dbSNP gnomAD v4 |
| 5 | g.69419725G= | CA1553916107 | MARVELD2 | c.340G= (p.Glu114=) | |
| 5 | g.69419725G>T | CA3294022 | MARVELD2 | c.340G>T (p.Glu114Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419726A>C | CA359923153 | MARVELD2 | c.341A>C (p.Glu114Ala) | |
| 5 | g.69419726A>G | CA359923156 | MARVELD2 | c.341A>G (p.Glu114Gly) | gnomAD v4 |
| 5 | g.69419726A>T | CA359923158 | MARVELD2 | c.341A>T (p.Glu114Val) | |
| 5 | g.69419727G>A | CA445083271 | MARVELD2 | c.342G>A (p.Glu114=) | gnomAD v4 |
| 5 | g.69419727G>C | CA359923161 | MARVELD2 | c.342G>C (p.Glu114Asp) | |
| 5 | g.69419727G>T | CA359923164 | MARVELD2 | c.342G>T (p.Glu114Asp) | |
| 5 | g.69419728T>A | CA359923168 | MARVELD2 | c.343T>A (p.Cys115Ser) | |
| 5 | g.69419728T>C | CA359923170 | MARVELD2 | c.343T>C (p.Cys115Arg) | |
| 5 | g.69419728T>G | CA3294023 | MARVELD2 | c.343T>G (p.Cys115Gly) | dbSNP ExAC gnomAD v4 |
| 5 | g.69419728T= | CA1553916112 | MARVELD2 | c.343T= (p.Cys115=) | |
| 5 | g.69419729G>A | CA359923172 | MARVELD2 | c.344G>A (p.Cys115Tyr) | dbSNP gnomAD v2 |
| 5 | g.69419729G>C | CA359923174 | MARVELD2 | c.344G>C (p.Cys115Ser) | |
| 5 | g.69419729G= | CA1553916113 | MARVELD2 | c.344G= (p.Cys115=) | |
| 5 | g.69419729G>T | CA3294024 | MARVELD2 | c.344G>T (p.Cys115Phe) | dbSNP ExAC |
| 5 | g.69419730T>A | CA359923175 | MARVELD2 | c.345T>A (p.Cys115Ter) | |
| 5 | g.69419730T>C | CA445083280 | MARVELD2 | c.345T>C (p.Cys115=) | COSMIC |
| 5 | g.69419730T>G | CA359923176 | MARVELD2 | c.345T>G (p.Cys115Trp) | |
| 5 | g.69419731T>A | CA359923177 | MARVELD2 | c.346T>A (p.Ser116Thr) | |
| 5 | g.69419731T>C | CA3294025 | MARVELD2 | c.346T>C (p.Ser116Pro) | dbSNP ExAC gnomAD v4 |
| 5 | g.69419731T>G | CA359923178 | MARVELD2 | c.346T>G (p.Ser116Ala) | |
| 5 | g.69419731T= | CA1553916114 | MARVELD2 | c.346T= (p.Ser116=) | |
| 5 | g.69419732C>A | CA359923179 | MARVELD2 | c.347C>A (p.Ser116Ter) | |
| 5 | g.69419732C>G | CA359923180 | MARVELD2 | c.347C>G (p.Ser116Ter) | |
| 5 | g.69419732C>T | CA359923181 | MARVELD2 | c.347C>T (p.Ser116Leu) | |
| 5 | g.69419737_69419739del | CA2674131175 | MARVELD2 | c.352_354del (p.Pro118del) | gnomAD v4 |
| 5 | g.69419733A= | CA1553916115 | MARVELD2 | c.348A= (p.Ser116=) | |
| 5 | g.69419733A>C | CA3294026 | MARVELD2 | c.348A>C (p.Ser116=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419733A>G | CA445083287 | MARVELD2 | c.348A>G (p.Ser116=) | |
| 5 | g.69419733A>T | CA445083288 | MARVELD2 | c.348A>T (p.Ser116=) | |
| 5 | g.69419734C>A | CA359923183 | MARVELD2 | c.349C>A (p.Pro117Thr) | |
| 5 | g.69419734C>G | CA359923184 | MARVELD2 | c.349C>G (p.Pro117Ala) | |
| 5 | g.69419734C>T | CA359923182 | MARVELD2 | c.349C>T (p.Pro117Ser) | |
| 5 | g.69419735C>A | CA359923185 | MARVELD2 | c.350C>A (p.Pro117Gln) | |
| 5 | g.69419735C>G | CA359923186 | MARVELD2 | c.350C>G (p.Pro117Arg) | |
| 5 | g.69419735C>T | CA359923187 | MARVELD2 | c.350C>T (p.Pro117Leu) | |
| 5 | g.69419736A= | CA1553916117 | MARVELD2 | c.351A= (p.Pro117=) | |
| 5 | g.69419736A>C | CA3294027 | MARVELD2 | c.351A>C (p.Pro117=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419736A>G | CA445083299 | MARVELD2 | c.351A>G (p.Pro117=) | |
| 5 | g.69419736A>T | CA445083300 | MARVELD2 | c.351A>T (p.Pro117=) | |
| 5 | g.69419737C>A | CA359923190 | MARVELD2 | c.352C>A (p.Pro118Thr) | |
| 5 | g.69419737C>G | CA359923189 | MARVELD2 | c.352C>G (p.Pro118Ala) | |
| 5 | g.69419737C>T | CA359923188 | MARVELD2 | c.352C>T (p.Pro118Ser) | |
| 5 | g.69419738C>A | CA359923191 | MARVELD2 | c.353C>A (p.Pro118Gln) | |
| 5 | g.69419738C= | CA1553916119 | MARVELD2 | c.353C= (p.Pro118=) | |
| 5 | g.69419738C>G | CA3294028 | MARVELD2 | c.353C>G (p.Pro118Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419738C>T | CA359923192 | MARVELD2 | c.353C>T (p.Pro118Leu) | dbSNP gnomAD v2 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) |