Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.74421632_74422072del | CA2499226858 | SLC16A2 | c.-6_430+5del | ClinVar dbSNP |
X | g.74421896G>A | CA413656109 | SLC16A2 | c.259G>A (p.Gly87Ser) c.5G>A | |
X | g.74421896G>C | CA10454390 | SLC16A2 | c.259G>C (p.Gly87Arg) c.5G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421896G= | CA2437472633 | SLC16A2 | c.259G= (p.Gly87=) c.5G= | |
X | g.74421896G>T | CA413656108 | SLC16A2 | c.259G>T (p.Gly87Cys) c.5G>T | |
X | g.74421897G>A | CA413656110 | SLC16A2 | c.260G>A (p.Gly87Asp) c.6G>A | gnomAD v4 |
X | g.74421897G>C | CA413656111 | SLC16A2 | c.260G>C (p.Gly87Ala) c.6G>C | |
X | g.74421897G>T | CA413656112 | SLC16A2 | c.260G>T (p.Gly87Val) c.6G>T | |
X | g.74421898C>A | CA517464508 | SLC16A2 | c.261C>A (p.Gly87=) c.7C>A | gnomAD v4 |
X | g.74421898C>G | CA517464509 | SLC16A2 | c.261C>G (p.Gly87=) c.7C>G | |
X | g.74421898C>T | CA517464510 | SLC16A2 | c.261C>T (p.Gly87=) c.7C>T | |
X | g.74421899A= | CA2437472634 | SLC16A2 | c.262A= (p.Thr88=) c.8A= | |
X | g.74421899A>C | CA413656113 | SLC16A2 | c.262A>C (p.Thr88Pro) c.8A>C | |
X | g.74421899A>G | CA10454391 | SLC16A2 | c.262A>G (p.Thr88Ala) c.8A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421899A>T | CA413656114 | SLC16A2 | c.262A>T (p.Thr88Ser) c.8A>T | |
X | g.74421900C>A | CA413656117 | SLC16A2 | c.263C>A (p.Thr88Asn) c.9C>A | |
X | g.74421900C>G | CA413656115 | SLC16A2 | c.263C>G (p.Thr88Ser) c.9C>G | |
X | g.74421900C>T | CA413656116 | SLC16A2 | c.263C>T (p.Thr88Ile) c.9C>T | |
X | g.74421901C>A | CA517464526 | SLC16A2 | c.264C>A (p.Thr88=) c.10C>A | |
X | g.74421901C= | CA2437472635 | SLC16A2 | c.264C= (p.Thr88=) c.10C= | |
X | g.74421901C>G | CA517464528 | SLC16A2 | c.264C>G (p.Thr88=) c.10C>G | dbSNP gnomAD v2 gnomAD v4 |
X | g.74421901C>T | CA517464529 | SLC16A2 | c.264C>T (p.Thr88=) c.10C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421902G>A | CA10454393 | SLC16A2 | c.265G>A (p.Ala89Thr) c.11G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421902G>C | CA10454392 | SLC16A2 | c.265G>C (p.Ala89Pro) c.11G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421902G= | CA2437472636 | SLC16A2 | c.265G= (p.Ala89=) c.11G= | |
X | g.74421902G>T | CA413656118 | SLC16A2 | c.265G>T (p.Ala89Ser) c.11G>T | |
X | g.74421903C>A | CA413656119 | SLC16A2 | c.266C>A (p.Ala89Glu) c.12C>A | dbSNP |
X | g.74421903C= | CA2437472637 | SLC16A2 | c.266C= (p.Ala89=) c.12C= | |
X | g.74421903C>G | CA413656120 | SLC16A2 | c.266C>G (p.Ala89Gly) c.12C>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.74421903C>T | CA413656121 | SLC16A2 | c.266C>T (p.Ala89Val) c.12C>T | gnomAD v4 |
X | g.74421904G>A | CA331275952 | SLC16A2 | c.267G>A (p.Ala89=) c.13G>A | dbSNP gnomAD v4 |
X | g.74421904G>C | CA517464535 | SLC16A2 | c.267G>C (p.Ala89=) c.13G>C | |
X | g.74421904G= | CA2437472638 | SLC16A2 | c.267G= (p.Ala89=) c.13G= | |
X | g.74421904G>T | CA517464536 | SLC16A2 | c.267G>T (p.Ala89=) c.13G>T | |
X | g.74421905C>A | CA413656122 | SLC16A2 | c.268C>A (p.Arg90Ser) c.14C>A | gnomAD v4 |
X | g.74421905C= | CA2437472639 | SLC16A2 | c.268C= (p.Arg90=) c.14C= | |
X | g.74421905C>G | CA413656124 | SLC16A2 | c.268C>G (p.Arg90Gly) c.14C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421905C>T | CA413656123 | SLC16A2 | c.268C>T (p.Arg90Cys) c.14C>T | gnomAD v4 |
X | g.74421906G>A | CA413656125 | SLC16A2 | c.269G>A (p.Arg90His) c.15G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421906G>C | CA413656126 | SLC16A2 | c.269G>C (p.Arg90Pro) c.15G>C | |
X | g.74421906G= | CA2437472640 | SLC16A2 | c.269G= (p.Arg90=) c.15G= | |
X | g.74421906G>T | CA413656127 | SLC16A2 | c.269G>T (p.Arg90Leu) c.15G>T | |
X | g.74421906_74421907delinsAA | CA2740092201 | SLC16A2 | c.269_270delinsAA (p.Arg90Gln) c.15_16delinsAA | ClinVar |
X | g.74421907C>A | CA517464541 | SLC16A2 | c.270C>A (p.Arg90=) c.16C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421907C= | CA2437472641 | SLC16A2 | c.270C= (p.Arg90=) c.16C= | |
X | g.74421907C>G | CA517464542 | SLC16A2 | c.270C>G (p.Arg90=) c.16C>G | |
X | g.74421907C>T | CA517464543 | SLC16A2 | c.270C>T (p.Arg90=) c.16C>T | COSMIC |
X | g.74421908G>A | CA331275953 | SLC16A2 | c.271G>A (p.Gly91Ser) c.17G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421908G>C | CA413656128 | SLC16A2 | c.271G>C (p.Gly91Arg) c.17G>C | |
X | g.74421908G= | CA2437472642 | SLC16A2 | c.271G= (p.Gly91=) c.17G= | |
X | g.74421908G>T | CA413656129 | SLC16A2 | c.271G>T (p.Gly91Cys) c.17G>T | dbSNP gnomAD v2 |
X | g.74421909G>A | CA413656130 | SLC16A2 | c.272G>A (p.Gly91Asp) c.18G>A | dbSNP COSMIC |
X | g.74421909G>C | CA413656131 | SLC16A2 | c.272G>C (p.Gly91Ala) c.18G>C | |
X | g.74421909G= | CA2437472643 | SLC16A2 | c.272G= (p.Gly91=) c.18G= | |
X | g.74421909G>T | CA413656132 | SLC16A2 | c.272G>T (p.Gly91Val) c.18G>T | |
X | g.74421910C>A | CA517464545 | SLC16A2 | c.273C>A (p.Gly91=) c.19C>A | |
X | g.74421910C>G | CA517464547 | SLC16A2 | c.273C>G (p.Gly91=) c.19C>G | gnomAD v4 |
X | g.74421910C>T | CA517464550 | SLC16A2 | c.273C>T (p.Gly91=) c.19C>T | |
X | g.74421911T>A | CA413656133 | SLC16A2 | c.274T>A (p.Phe92Ile) c.20T>A | |
X | g.74421911T>C | CA413656134 | SLC16A2 | c.274T>C (p.Phe92Leu) c.20T>C | |
X | g.74421911T>G | CA413656135 | SLC16A2 | c.274T>G (p.Phe92Val) c.20T>G | |
X | g.74421912T>A | CA413656136 | SLC16A2 | c.275T>A (p.Phe92Tyr) c.21T>A | |
X | g.74421912T>C | CA413656138 | SLC16A2 | c.275T>C (p.Phe92Ser) c.21T>C | |
X | g.74421912T>G | CA413656137 | SLC16A2 | c.275T>G (p.Phe92Cys) c.21T>G | |
X | g.74421913C>A | CA413656139 | SLC16A2 | c.276C>A (p.Phe92Leu) c.22C>A | |
X | g.74421913C>G | CA413656140 | SLC16A2 | c.276C>G (p.Phe92Leu) c.22C>G | |
X | g.74421913C>T | CA517464561 | SLC16A2 | c.276C>T (p.Phe92=) c.22C>T | |
X | g.74421914C>A | CA413656141 | SLC16A2 | c.277C>A (p.Gln93Lys) c.23C>A | |
X | g.74421914C= | CA2437472644 | SLC16A2 | c.277C= (p.Gln93=) c.23C= | |
X | g.74421914C>G | CA413656142 | SLC16A2 | c.277C>G (p.Gln93Glu) c.23C>G | |
X | g.74421914C>T | CA272493 | SLC16A2 | c.277C>T (p.Gln93Ter) c.23C>T | ClinVar dbSNP |
X | g.74421915A= | CA2437472645 | SLC16A2 | c.278A= (p.Gln93=) c.24A= | |
X | g.74421915A>C | CA413656143 | SLC16A2 | c.278A>C (p.Gln93Pro) c.24A>C | |
X | g.74421915A>G | CA413656144 | SLC16A2 | c.278A>G (p.Gln93Arg) c.24A>G | |
X | g.74421915A>T | CA10454394 | SLC16A2 | c.278A>T (p.Gln93Leu) c.24A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.74421916G>A | CA517464564 | SLC16A2 | c.279G>A (p.Gln93=) c.25G>A | |
X | g.74421916G>C | CA413656145 | SLC16A2 | c.279G>C (p.Gln93His) c.25G>C | |
X | g.74421916G>T | CA413656146 | SLC16A2 | c.279G>T (p.Gln93His) c.25G>T | |
X | g.74421917C>A | CA413656147 | SLC16A2 | c.280C>A (p.Pro94Thr) c.26C>A | gnomAD v4 |
X | g.74421917C= | CA2437472646 | SLC16A2 | c.280C= (p.Pro94=) c.26C= | |
X | g.74421917C>G | CA413656148 | SLC16A2 | c.280C>G (p.Pro94Ala) c.26C>G | |
X | g.74421917C>T | CA10454395 | SLC16A2 | c.280C>T (p.Pro94Ser) c.26C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.74421918C>A | CA413656151 | SLC16A2 | c.281C>A (p.Pro94His) c.27C>A | |
X | g.74421918C>G | CA413656149 | SLC16A2 | c.281C>G (p.Pro94Arg) c.27C>G | |
X | g.74421918C>T | CA413656150 | SLC16A2 | c.281C>T (p.Pro94Leu) c.27C>T | |
X | g.74421919T>A | CA517464568 | SLC16A2 | c.282T>A (p.Pro94=) c.28T>A | |
X | g.74421919T>C | CA517464569 | SLC16A2 | c.282T>C (p.Pro94=) c.28T>C | |
X | g.74421919T>G | CA517464570 | SLC16A2 | c.282T>G (p.Pro94=) c.28T>G | |
X | g.74421920C>A | CA413656152 | SLC16A2 | c.283C>A (p.Pro95Thr) c.29C>A | |
X | g.74421920C>G | CA413656153 | SLC16A2 | c.283C>G (p.Pro95Ala) c.29C>G | |
X | g.74421920C>T | CA413656154 | SLC16A2 | c.283C>T (p.Pro95Ser) c.29C>T | |
X | g.74421922dup | CA2695234497 | SLC16A2 | c.285dup (p.Glu96ArgfsTer24) c.31dup | |
X | g.74421921C>A | CA413656155 | SLC16A2 | c.284C>A (p.Pro95His) c.30C>A | gnomAD v4 |
X | g.74421921C>G | CA413656156 | SLC16A2 | c.284C>G (p.Pro95Arg) c.30C>G | gnomAD v4 |
X | g.74421921C>T | CA413656157 | SLC16A2 | c.284C>T (p.Pro95Leu) c.30C>T | |
X | g.74421922C>A | CA517464575 | SLC16A2 | c.285C>A (p.Pro95=) c.31C>A | dbSNP |
X | g.74421922C= | CA2437472647 | SLC16A2 | c.285C= (p.Pro95=) c.31C= | |
X | g.74421922C>G | CA517464576 | SLC16A2 | c.285C>G (p.Pro95=) c.31C>G | dbSNP gnomAD v2 gnomAD v4 |
X | g.74421922C>T | CA517464577 | SLC16A2 | c.285C>T (p.Pro95=) c.31C>T | |
X | g.74421923G>A | CA413656158 | SLC16A2 | c.286G>A (p.Glu96Lys) c.32G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421923G>C | CA413656159 | SLC16A2 | c.286G>C (p.Glu96Gln) c.32G>C | |
X | g.74421923G= | CA2437472648 | SLC16A2 | c.286G= (p.Glu96=) c.32G= | |
X | g.74421923G>T | CA413656160 | SLC16A2 | c.286G>T (p.Glu96Ter) c.32G>T | |
X | g.74421924A>C | CA413656161 | SLC16A2 | c.287A>C (p.Glu96Ala) c.33A>C | |
X | g.74421924A>G | CA413656162 | SLC16A2 | c.287A>G (p.Glu96Gly) c.33A>G | |
X | g.74421924A>T | CA413656163 | SLC16A2 | c.287A>T (p.Glu96Val) c.33A>T | |
X | g.74421925A>C | CA413656164 | SLC16A2 | c.288A>C (p.Glu96Asp) c.34A>C | |
X | g.74421925A>G | CA517464581 | SLC16A2 | c.288A>G (p.Glu96=) c.34A>G | gnomAD v4 |
X | g.74421925A>T | CA413656165 | SLC16A2 | c.288A>T (p.Glu96Asp) c.34A>T | |
X | g.74421926G>A | CA413656166 | SLC16A2 | c.289G>A (p.Gly97Ser) c.35G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.74421926G>C | CA413656168 | SLC16A2 | c.289G>C (p.Gly97Arg) c.35G>C | |
X | g.74421926G= | CA2437472649 | SLC16A2 | c.289G= (p.Gly97=) c.35G= | |
X | g.74421926G>T | CA413656167 | SLC16A2 | c.289G>T (p.Gly97Cys) c.35G>T | |
X | g.74421927G>A | CA413656169 | SLC16A2 | c.290G>A (p.Gly97Asp) c.36G>A | |
X | g.74421927G>C | CA413656171 | SLC16A2 | c.290G>C (p.Gly97Ala) c.36G>C | |
X | g.74421927G>T | CA413656170 | SLC16A2 | c.290G>T (p.Gly97Val) c.36G>T | |
X | g.74421928T>A | CA517464586 | SLC16A2 | c.291T>A (p.Gly97=) c.37T>A | |
X | g.74421928T>C | CA517464589 | SLC16A2 | c.291T>C (p.Gly97=) c.37T>C | gnomAD v4 |
X | g.74421928T>G | CA517464588 | SLC16A2 | c.291T>G (p.Gly97=) c.37T>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.74421928T= | CA2437472650 | SLC16A2 | c.291T= (p.Gly97=) c.37T= | |
X | g.74421929G>A | CA413656172 | SLC16A2 | c.292G>A (p.Gly98Ser) c.38G>A | |
X | g.74421929G>C | CA413656174 | SLC16A2 | c.292G>C (p.Gly98Arg) c.38G>C | |
X | g.74421929G>T | CA413656173 | SLC16A2 | c.292G>T (p.Gly98Cys) c.38G>T | |
X | g.74421930G>A | CA413656175 | SLC16A2 | c.293G>A (p.Gly98Asp) c.39G>A | |
X | g.74421930G>C | CA413656176 | SLC16A2 | c.293G>C (p.Gly98Ala) c.39G>C | |
X | g.74421930G>T | CA413656177 | SLC16A2 | c.293G>T (p.Gly98Val) c.39G>T | |
X | g.74421931C>A | CA517464591 | SLC16A2 | c.294C>A (p.Gly98=) c.40C>A | |
X | g.74421931C>G | CA517464594 | SLC16A2 | c.294C>G (p.Gly98=) c.40C>G | |
X | g.74421931C>T | CA517464596 | SLC16A2 | c.294C>T (p.Gly98=) c.40C>T | |
X | g.74421932T>A | CA413656178 | SLC16A2 | c.295T>A (p.Phe99Ile) c.41T>A | |
X | g.74421932T>C | CA413656179 | SLC16A2 | c.295T>C (p.Phe99Leu) c.41T>C | |
X | g.74421932T>G | CA413656180 | SLC16A2 | c.295T>G (p.Phe99Val) c.41T>G | |
X | g.74421933T>A | CA413656183 | SLC16A2 | c.296T>A (p.Phe99Tyr) c.42T>A | |
X | g.74421933T>C | CA413656181 | SLC16A2 | c.296T>C (p.Phe99Ser) c.42T>C | |
X | g.74421933T>G | CA413656182 | SLC16A2 | c.296T>G (p.Phe99Cys) c.42T>G | |
X | g.74421934C>A | CA413656184 | SLC16A2 | c.297C>A (p.Phe99Leu) c.43C>A | |
X | g.74421934C>G | CA413656185 | SLC16A2 | c.297C>G (p.Phe99Leu) c.43C>G | |
X | g.74421934C>T | CA517464600 | SLC16A2 | c.297C>T (p.Phe99=) c.43C>T | gnomAD v4 |
X | g.74421935G>A | CA413656186 | SLC16A2 | c.298G>A (p.Gly100Ser) c.44G>A | dbSNP gnomAD v2 |
X | g.74421935G>C | CA413656187 | SLC16A2 | c.298G>C (p.Gly100Arg) c.44G>C | |
X | g.74421935G= | CA2437472651 | SLC16A2 | c.298G= (p.Gly100=) c.44G= | |
X | g.74421935G>T | CA413656188 | SLC16A2 | c.298G>T (p.Gly100Cys) c.44G>T | |
X | g.74421936G>A | CA413656191 | SLC16A2 | c.299G>A (p.Gly100Asp) c.45G>A | |
X | g.74421936G>C | CA413656189 | SLC16A2 | c.299G>C (p.Gly100Ala) c.45G>C | |
X | g.74421936G>T | CA413656190 | SLC16A2 | c.299G>T (p.Gly100Val) c.45G>T | |
X | g.74421937C>A | CA517464603 | SLC16A2 | c.300C>A (p.Gly100=) c.46C>A | gnomAD v4 |
X | g.74421937C>G | CA517464604 | SLC16A2 | c.300C>G (p.Gly100=) c.46C>G | |
X | g.74421937C>T | CA517464605 | SLC16A2 | c.300C>T (p.Gly100=) c.46C>T | |
X | g.74421938T>A | CA413656192 | SLC16A2 | c.301T>A (p.Trp101Arg) c.47T>A | |
X | g.74421938T>C | CA413656193 | SLC16A2 | c.301T>C (p.Trp101Arg) c.47T>C | |
X | g.74421938T>G | CA413656194 | SLC16A2 | c.301T>G (p.Trp101Gly) c.47T>G | |
X | g.74421939G>A | CA413656195 | SLC16A2 | c.302G>A (p.Trp101Ter) c.48G>A | |
X | g.74421939G>C | CA413656196 | SLC16A2 | c.302G>C (p.Trp101Ser) c.48G>C | |
X | g.74421939G>T | CA413656197 | SLC16A2 | c.302G>T (p.Trp101Leu) c.48G>T | |
X | g.74421941dup | CA2840544942 | SLC16A2 | c.304dup (p.Val102GlyfsTer18) c.50dup | |
X | g.74421940G>A | CA413656198 | SLC16A2 | c.303G>A (p.Trp101Ter) c.49G>A | |
X | g.74421940G>C | CA413656199 | SLC16A2 | c.303G>C (p.Trp101Cys) c.49G>C | |
X | g.74421940G>T | CA413656200 | SLC16A2 | c.303G>T (p.Trp101Cys) c.49G>T | |
X | g.74421941G>A | CA413656201 | SLC16A2 | c.304G>A (p.Val102Met) c.50G>A | dbSNP gnomAD v4 |
X | g.74421941G>C | CA413656202 | SLC16A2 | c.304G>C (p.Val102Leu) c.50G>C | |
X | g.74421941G= | CA2437472652 | SLC16A2 | c.304G= (p.Val102=) c.50G= | |
X | g.74421941G>T | CA413656203 | SLC16A2 | c.304G>T (p.Val102Leu) c.50G>T | gnomAD v4 |
X | g.74421942T>A | CA413656204 | SLC16A2 | c.305T>A (p.Val102Glu) c.51T>A | |
X | g.74421942T>C | CA413656205 | SLC16A2 | c.305T>C (p.Val102Ala) c.51T>C | |
X | g.74421942T>G | CA10454396 | SLC16A2 | c.305T>G (p.Val102Gly) c.51T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.74421942T= | CA2437472653 | SLC16A2 | c.305T= (p.Val102=) c.51T= | |
X | g.74421943G>A | CA517464614 | SLC16A2 | c.306G>A (p.Val102=) c.52G>A | ClinVar |
X | g.74421943G>C | CA517464616 | SLC16A2 | c.306G>C (p.Val102=) c.52G>C | |
X | g.74421943G>T | CA517464618 | SLC16A2 | c.306G>T (p.Val102=) c.52G>T | gnomAD v4 |
X | g.74421944G>A | CA413656206 | SLC16A2 | c.307G>A (p.Val103Met) c.53G>A | |
X | g.74421944G>C | CA413656207 | SLC16A2 | c.307G>C (p.Val103Leu) c.53G>C | |
X | g.74421944G>T | CA413656208 | SLC16A2 | c.307G>T (p.Val103Leu) c.53G>T | |
X | g.74421945T>A | CA413656209 | SLC16A2 | c.308T>A (p.Val103Glu) c.54T>A | |
X | g.74421945T>C | CA413656210 | SLC16A2 | c.308T>C (p.Val103Ala) c.54T>C | |
X | g.74421945T>G | CA413656211 | SLC16A2 | c.308T>G (p.Val103Gly) c.54T>G | |
X | g.74421946G>A | CA517464624 | SLC16A2 | c.309G>A (p.Val103=) c.55G>A | |
X | g.74421946G>C | CA517464625 | SLC16A2 | c.309G>C (p.Val103=) c.55G>C | |
X | g.74421946G>T | CA517464626 | SLC16A2 | c.309G>T (p.Val103=) c.55G>T | |
X | g.74421947G>A | CA413656212 | SLC16A2 | c.310G>A (p.Val104Met) c.56G>A | |
X | g.74421947G>C | CA413656213 | SLC16A2 | c.310G>C (p.Val104Leu) c.56G>C | |
X | g.74421947G>T | CA413656214 | SLC16A2 | c.310G>T (p.Val104Leu) c.56G>T | |
X | g.74421948T>A | CA413656215 | SLC16A2 | c.311T>A (p.Val104Glu) c.57T>A | |
X | g.74421948T>C | CA413656216 | SLC16A2 | c.311T>C (p.Val104Ala) c.57T>C | |
X | g.74421948T>G | CA413656217 | SLC16A2 | c.311T>G (p.Val104Gly) c.57T>G | |
X | g.74421948dup | CA2840544943 | SLC16A2 | c.311dup (p.Phe105ValfsTer15) c.57dup | |
X | g.74421949G>A | CA517464628 | SLC16A2 | c.312G>A (p.Val104=) c.58G>A | |
X | g.74421949G>C | CA517464629 | SLC16A2 | c.312G>C (p.Val104=) c.58G>C | |
X | g.74421949G= | CA2437472654 | SLC16A2 | c.312G= (p.Val104=) c.58G= | |
X | g.74421949G>T | CA517464631 | SLC16A2 | c.312G>T (p.Val104=) c.58G>T | dbSNP gnomAD v4 |
X | g.74421950T>A | CA413656220 | SLC16A2 | c.313T>A (p.Phe105Ile) c.59T>A | |
X | g.74421950T>C | CA413656218 | SLC16A2 | c.313T>C (p.Phe105Leu) c.59T>C | |
X | g.74421950T>G | CA413656219 | SLC16A2 | c.313T>G (p.Phe105Val) c.59T>G | dbSNP |
X | g.74421950T= | CA2437472655 | SLC16A2 | c.313T= (p.Phe105=) c.59T= | |
X | g.74421951T>A | CA413656221 | SLC16A2 | c.314T>A (p.Phe105Tyr) c.60T>A | |
X | g.74421951T>C | CA413656222 | SLC16A2 | c.314T>C (p.Phe105Ser) c.60T>C | |
X | g.74421951T>G | CA413656223 | SLC16A2 | c.314T>G (p.Phe105Cys) c.60T>G | |
X | g.74421952C>A | CA413656224 | SLC16A2 | c.315C>A (p.Phe105Leu) c.61C>A | gnomAD v4 |
X | g.74421952C>G | CA413656225 | SLC16A2 | c.315C>G (p.Phe105Leu) c.61C>G | gnomAD v4 |
X | g.74421952C>T | CA517464635 | SLC16A2 | c.315C>T (p.Phe105=) c.61C>T | |
X | g.74421953G>A | CA413656226 | SLC16A2 | c.316G>A (p.Ala106Thr) c.62G>A | |
X | g.74421953G>C | CA238871 | SLC16A2 | c.316G>C (p.Ala106Pro) c.62G>C | ClinVar dbSNP |
X | g.74421953G= | CA2437472656 | SLC16A2 | c.316G= (p.Ala106=) c.62G= | |
X | g.74421953G>T | CA413656227 | SLC16A2 | c.316G>T (p.Ala106Ser) c.62G>T | gnomAD v4 |
X | g.74421954C>A | CA413656228 | SLC16A2 | c.317C>A (p.Ala106Asp) c.63C>A | |
X | g.74421954C>G | CA413656229 | SLC16A2 | c.317C>G (p.Ala106Gly) c.63C>G | gnomAD v4 |
X | g.74421954C>T | CA413656230 | SLC16A2 | c.317C>T (p.Ala106Val) c.63C>T | |
X | g.74421955T>A | CA517464637 | SLC16A2 | c.318T>A (p.Ala106=) c.64T>A | |
X | g.74421955T>C | CA517464638 | SLC16A2 | c.318T>C (p.Ala106=) c.64T>C | gnomAD v4 |
X | g.74421955T>G | CA517464640 | SLC16A2 | c.318T>G (p.Ala106=) c.64T>G | |
X | g.74421956G>A | CA413656233 | SLC16A2 | c.319G>A (p.Ala107Thr) c.65G>A | gnomAD v4 |
X | g.74421956G>C | CA413656232 | SLC16A2 | c.319G>C (p.Ala107Pro) c.65G>C | |
X | g.74421956G>T | CA413656231 | SLC16A2 | c.319G>T (p.Ala107Ser) c.65G>T | |
X | g.74421957C>A | CA413656235 | SLC16A2 | c.320C>A (p.Ala107Asp) c.66C>A | |
X | g.74421957C>G | CA413656234 | SLC16A2 | c.320C>G (p.Ala107Gly) c.66C>G | |
X | g.74421957C>T | CA413656236 | SLC16A2 | c.320C>T (p.Ala107Val) c.66C>T | gnomAD v4 |
X | g.74421958C>A | CA517464644 | SLC16A2 | c.321C>A (p.Ala107=) c.67C>A | |
X | g.74421958C>G | CA517464645 | SLC16A2 | c.321C>G (p.Ala107=) c.67C>G | |
X | g.74421958C>T | CA517464646 | SLC16A2 | c.321C>T (p.Ala107=) c.67C>T | |
X | g.74421959A>C | CA413656237 | SLC16A2 | c.322A>C (p.Thr108Pro) c.68A>C | |
X | g.74421959A>G | CA413656238 | SLC16A2 | c.322A>G (p.Thr108Ala) c.68A>G | |
X | g.74421959A>T | CA413656239 | SLC16A2 | c.322A>T (p.Thr108Ser) c.68A>T | |
X | g.74421960C>A | CA413656240 | SLC16A2 | c.323C>A (p.Thr108Asn) c.69C>A | |
X | g.74421960C>G | CA413656241 | SLC16A2 | c.323C>G (p.Thr108Ser) c.69C>G | |
X | g.74421960C>T | CA413656242 | SLC16A2 | c.323C>T (p.Thr108Ile) c.69C>T | |
X | g.74421961C>A | CA517464648 | SLC16A2 | c.324C>A (p.Thr108=) c.70C>A | |
X | g.74421961C>G | CA517464649 | SLC16A2 | c.324C>G (p.Thr108=) c.70C>G | |
X | g.74421961C>T | CA517464651 | SLC16A2 | c.324C>T (p.Thr108=) c.70C>T | |
X | g.74421962T>A | CA413656243 | SLC16A2 | c.325T>A (p.Trp109Arg) c.71T>A | |
X | g.74421962T>C | CA413656244 | SLC16A2 | c.325T>C (p.Trp109Arg) c.71T>C | ClinVar dbSNP |
X | g.74421962T>G | CA413656245 | SLC16A2 | c.325T>G (p.Trp109Gly) c.71T>G | |
X | g.74421963G>A | CA274912 | SLC16A2 | c.326G>A (p.Trp109Ter) c.72G>A | ClinVar dbSNP |
X | g.74421963G>C | CA413656246 | SLC16A2 | c.326G>C (p.Trp109Ser) c.72G>C | |
X | g.74421963G= | CA2437472657 | SLC16A2 | c.326G= (p.Trp109=) c.72G= | |
X | g.74421963G>T | CA413656247 | SLC16A2 | c.326G>T (p.Trp109Leu) c.72G>T | |
X | g.74421964G>A | CA413656250 | SLC16A2 | c.327G>A (p.Trp109Ter) c.73G>A | ClinVar dbSNP |
X | g.74421964G>C | CA413656248 | SLC16A2 | c.327G>C (p.Trp109Cys) c.73G>C | |
X | g.74421964G= | CA2437472658 | SLC16A2 | c.327G= (p.Trp109=) c.73G= | |
X | g.74421964G>T | CA413656249 | SLC16A2 | c.327G>T (p.Trp109Cys) c.73G>T | |
X | g.74421965T>A | CA413656251 | SLC16A2 | c.328T>A (p.Cys110Ser) c.74T>A | |
X | g.74421965T>C | CA413656252 | SLC16A2 | c.328T>C (p.Cys110Arg) c.74T>C | |
X | g.74421965T>G | CA413656253 | SLC16A2 | c.328T>G (p.Cys110Gly) c.74T>G | |
X | g.74421966G>A | CA413656254 | SLC16A2 | c.329G>A (p.Cys110Tyr) c.75G>A | |
X | g.74421966G>C | CA413656255 | SLC16A2 | c.329G>C (p.Cys110Ser) c.75G>C | |
X | g.74421966G>T | CA413656256 | SLC16A2 | c.329G>T (p.Cys110Phe) c.75G>T | |
X | g.74421967C>A | CA413656257 | SLC16A2 | c.330C>A (p.Cys110Ter) c.76C>A | |
X | g.74421967C>G | CA413656258 | SLC16A2 | c.330C>G (p.Cys110Trp) c.76C>G | |
X | g.74421967C>T | CA517464413 | SLC16A2 | c.330C>T (p.Cys110=) c.76C>T | gnomAD v4 |
X | g.74421968A>C | CA413656259 | SLC16A2 | c.331A>C (p.Asn111His) c.77A>C | |
X | g.74421968A>G | CA413656260 | SLC16A2 | c.331A>G (p.Asn111Asp) c.77A>G | |
X | g.74421968A>T | CA413656261 | SLC16A2 | c.331A>T (p.Asn111Tyr) c.77A>T | |
X | g.74421969A= | CA2437472659 | SLC16A2 | c.332A= (p.Asn111=) c.78A= | |
X | g.74421969A>C | CA413656263 | SLC16A2 | c.332A>C (p.Asn111Thr) c.78A>C | |
X | g.74421969A>G | CA413656264 | SLC16A2 | c.332A>G (p.Asn111Ser) c.78A>G | dbSNP gnomAD v4 |
X | g.74421969A>T | CA413656262 | SLC16A2 | c.332A>T (p.Asn111Ile) c.78A>T | |
X | g.74421970C>A | CA413656265 | SLC16A2 | c.333C>A (p.Asn111Lys) c.79C>A | |
X | g.74421970C= | CA2437472660 | SLC16A2 | c.333C= (p.Asn111=) c.79C= | |
X | g.74421970C>G | CA413656266 | SLC16A2 | c.333C>G (p.Asn111Lys) c.79C>G | |
X | g.74421970C>T | CA517464415 | SLC16A2 | c.333C>T (p.Asn111=) c.79C>T | dbSNP COSMIC |
X | g.74421971G>A | CA413656267 | SLC16A2 | c.334G>A (p.Gly112Ser) c.80G>A | |
X | g.74421971G>C | CA413656268 | SLC16A2 | c.334G>C (p.Gly112Arg) c.80G>C | ClinVar dbSNP |
X | g.74421971G= | CA2437472661 | SLC16A2 | c.334G= (p.Gly112=) c.80G= | |
X | g.74421971G>T | CA413656269 | SLC16A2 | c.334G>T (p.Gly112Cys) c.80G>T | |
X | g.74421972dup | CA2839151717 | SLC16A2 | c.335dup (p.Ser113LeufsTer7) c.81dup | |
X | g.74421972G>A | CA413656272 | SLC16A2 | c.335G>A (p.Gly112Asp) c.81G>A | |
X | g.74421972G>C | CA413656271 | SLC16A2 | c.335G>C (p.Gly112Ala) c.81G>C | |
X | g.74421972G>T | CA413656270 | SLC16A2 | c.335G>T (p.Gly112Val) c.81G>T | |
X | g.74421973C>A | CA517464420 | SLC16A2 | c.336C>A (p.Gly112=) c.82C>A | |
X | g.74421973C>G | CA517464419 | SLC16A2 | c.336C>G (p.Gly112=) c.82C>G | |
X | g.74421973C>T | CA517464418 | SLC16A2 | c.336C>T (p.Gly112=) c.82C>T | |
X | g.74421974T>A | CA413656273 | SLC16A2 | c.337T>A (p.Ser113Thr) c.83T>A | |
X | g.74421974T>C | CA413656274 | SLC16A2 | c.337T>C (p.Ser113Pro) c.83T>C | |
X | g.74421974T>G | CA413656275 | SLC16A2 | c.337T>G (p.Ser113Ala) c.83T>G | |
X | g.74421975C>A | CA413656276 | SLC16A2 | c.338C>A (p.Ser113Tyr) c.84C>A | |
X | g.74421975C>G | CA413656277 | SLC16A2 | c.338C>G (p.Ser113Cys) c.84C>G | gnomAD v4 |
X | g.74421975C>T | CA413656278 | SLC16A2 | c.338C>T (p.Ser113Phe) c.84C>T | |
X | g.74421976C>A | CA517464432 | SLC16A2 | c.339C>A (p.Ser113=) c.85C>A | |
X | g.74421976C>G | CA517464427 | SLC16A2 | c.339C>G (p.Ser113=) c.85C>G | |
X | g.74421976C>T | CA517464430 | SLC16A2 | c.339C>T (p.Ser113=) c.85C>T | |
X | g.74421977_74421979dup | CA2695234498 | SLC16A2 | c.340_342dup (p.Ile114_Phe115insIle) c.86_88dup | |
X | g.74421977A>C | CA413656279 | SLC16A2 | c.340A>C (p.Ile114Leu) c.86A>C | |
X | g.74421977A>G | CA413656281 | SLC16A2 | c.340A>G (p.Ile114Val) c.86A>G | |
X | g.74421977A>T | CA413656280 | SLC16A2 | c.340A>T (p.Ile114Phe) c.86A>T | |
X | g.74421978T>A | CA413656282 | SLC16A2 | c.341T>A (p.Ile114Asn) c.87T>A | |
X | g.74421978T>C | CA413656283 | SLC16A2 | c.341T>C (p.Ile114Thr) c.87T>C | |
X | g.74421978T>G | CA413656284 | SLC16A2 | c.341T>G (p.Ile114Ser) c.87T>G | |
X | g.74421979C>A | CA517464434 | SLC16A2 | c.342C>A (p.Ile114=) c.88C>A | |
X | g.74421979C>G | CA413656285 | SLC16A2 | c.342C>G (p.Ile114Met) c.88C>G | |
X | g.74421979C>T | CA517464437 | SLC16A2 | c.342C>T (p.Ile114=) c.88C>T | |
X | g.74421980T>A | CA413656286 | SLC16A2 | c.343T>A (p.Phe115Ile) c.89T>A | |
X | g.74421980T>C | CA413656287 | SLC16A2 | c.343T>C (p.Phe115Leu) c.89T>C | |
X | g.74421980T>G | CA413656288 | SLC16A2 | c.343T>G (p.Phe115Val) c.89T>G | |
X | g.74421981T>A | CA413656289 | SLC16A2 | c.344T>A (p.Phe115Tyr) c.90T>A | |
X | g.74421981T>C | CA413656290 | SLC16A2 | c.344T>C (p.Phe115Ser) c.90T>C | gnomAD v4 |
X | g.74421981T>G | CA413656291 | SLC16A2 | c.344T>G (p.Phe115Cys) c.90T>G | |
X | g.74421982C>A | CA413656292 | SLC16A2 | c.345C>A (p.Phe115Leu) c.91C>A | |
X | g.74421982C= | CA2437472662 | SLC16A2 | c.345C= (p.Phe115=) c.91C= | |
X | g.74421982C>G | CA413656293 | SLC16A2 | c.345C>G (p.Phe115Leu) c.91C>G | |
X | g.74421982C>T | CA331275954 | SLC16A2 | c.345C>T (p.Phe115=) c.91C>T | dbSNP |
X | g.74421983G>A | CA413656295 | SLC16A2 | c.346G>A (p.Gly116Ser) c.92G>A | gnomAD v4 |
X | g.74421983G>C | CA413656296 | SLC16A2 | c.346G>C (p.Gly116Arg) c.92G>C | |
X | g.74421983G>T | CA413656294 | SLC16A2 | c.346G>T (p.Gly116Cys) c.92G>T | |
X | g.74421984G>A | CA413656297 | SLC16A2 | c.347G>A (p.Gly116Asp) c.93G>A | |
X | g.74421984G>C | CA413656299 | SLC16A2 | c.347G>C (p.Gly116Ala) c.93G>C | dbSNP gnomAD v2 |
X | g.74421984G= | CA2437472663 | SLC16A2 | c.347G= (p.Gly116=) c.93G= | |
X | g.74421984G>T | CA413656298 | SLC16A2 | c.347G>T (p.Gly116Val) c.93G>T | |
X | g.74421985C>A | CA517464441 | SLC16A2 | c.348C>A (p.Gly116=) c.94C>A | ClinVar dbSNP |
X | g.74421985C= | CA2437472664 | SLC16A2 | c.348C= (p.Gly116=) c.94C= | |
X | g.74421985C>G | CA517464443 | SLC16A2 | c.348C>G (p.Gly116=) c.94C>G | |
X | g.74421985C>T | CA517464445 | SLC16A2 | c.348C>T (p.Gly116=) c.94C>T | |
X | g.74421986A>C | CA413656300 | SLC16A2 | c.349A>C (p.Ile117Leu) c.95A>C | |
X | g.74421986A>G | CA413656301 | SLC16A2 | c.349A>G (p.Ile117Val) c.95A>G | |
X | g.74421986A>T | CA413656302 | SLC16A2 | c.349A>T (p.Ile117Phe) c.95A>T | |
X | g.74421987T>A | CA413656303 | SLC16A2 | c.350T>A (p.Ile117Asn) c.96T>A | |
X | g.74421987T>C | CA413656304 | SLC16A2 | c.350T>C (p.Ile117Thr) c.96T>C | |
X | g.74421987T>G | CA413656305 | SLC16A2 | c.350T>G (p.Ile117Ser) c.96T>G | |
X | g.74421988C>A | CA517464452 | SLC16A2 | c.351C>A (p.Ile117=) c.97C>A | |
X | g.74421988C>G | CA413656306 | SLC16A2 | c.351C>G (p.Ile117Met) c.97C>G | |
X | g.74421988C>T | CA517464455 | SLC16A2 | c.351C>T (p.Ile117=) c.97C>T | |
X | g.74421989C>A | CA413656307 | SLC16A2 | c.352C>A (p.His118Asn) c.98C>A | |
X | g.74421989C>G | CA413656308 | SLC16A2 | c.352C>G (p.His118Asp) c.98C>G | |
X | g.74421989C>T | CA413656309 | SLC16A2 | c.352C>T (p.His118Tyr) c.98C>T | |
X | g.74421990A= | CA2437472665 | SLC16A2 | c.353A= (p.His118=) c.99A= | |
X | g.74421990A>C | CA274914 | SLC16A2 | c.353A>C (p.His118Pro) c.99A>C | ClinVar dbSNP |
X | g.74421990A>G | CA413656310 | SLC16A2 | c.353A>G (p.His118Arg) c.99A>G | |
X | g.74421990A>T | CA413656311 | SLC16A2 | c.353A>T (p.His118Leu) c.99A>T | |
X | g.74421991T>A | CA413656312 | SLC16A2 | c.354T>A (p.His118Gln) c.100T>A | |
X | g.74421991T>C | CA517464461 | SLC16A2 | c.354T>C (p.His118=) c.100T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421991T>G | CA413656313 | SLC16A2 | c.354T>G (p.His118Gln) c.100T>G | gnomAD v3 gnomAD v4 |
X | g.74421991T= | CA2437472666 | SLC16A2 | c.354T= (p.His118=) c.100T= | |
X | g.74421992A>C | CA413656314 | SLC16A2 | c.355A>C (p.Asn119His) c.101A>C | |
X | g.74421992A>G | CA413656315 | SLC16A2 | c.355A>G (p.Asn119Asp) c.101A>G | |
X | g.74421992A>T | CA413656316 | SLC16A2 | c.355A>T (p.Asn119Tyr) c.101A>T | |
X | g.74421993A>C | CA413656317 | SLC16A2 | c.356A>C (p.Asn119Thr) c.102A>C | |
X | g.74421993A>G | CA413656318 | SLC16A2 | c.356A>G (p.Asn119Ser) c.102A>G | |
X | g.74421993A>T | CA413656319 | SLC16A2 | c.356A>T (p.Asn119Ile) c.102A>T | |
X | g.74421993_74421995delinsACT | CA2437472667 | SLC16A2 | c.356_358delinsACT (p.Asn119=) c.102_104delinsACT | |
X | g.74421994C>A | CA413656320 | SLC16A2 | c.357C>A (p.Asn119Lys) c.103C>A | |
X | g.74421994C= | CA2437472668 | SLC16A2 | c.357C= (p.Asn119=) c.103C= | |
X | g.74421994C>G | CA413656321 | SLC16A2 | c.357C>G (p.Asn119Lys) c.103C>G | |
X | g.74421994C>T | CA517464466 | SLC16A2 | c.357C>T (p.Asn119=) c.103C>T | dbSNP gnomAD v2 |
X | g.74421996_74421997del | CA658799806 | SLC16A2 | c.359_360del (p.Ser120CysfsTer?) c.105_106del | ClinVar dbSNP |
X | g.74421995T>A | CA413656322 | SLC16A2 | c.358T>A (p.Ser120Thr) c.104T>A | |
X | g.74421995T>C | CA413656323 | SLC16A2 | c.358T>C (p.Ser120Pro) c.104T>C | |
X | g.74421995T>G | CA413656324 | SLC16A2 | c.358T>G (p.Ser120Ala) c.104T>G | |
X | g.74421996C>A | CA413656326 | SLC16A2 | c.359C>A (p.Ser120Tyr) c.105C>A | |
X | g.74421996C= | CA2437472669 | SLC16A2 | c.359C= (p.Ser120=) c.105C= | |
X | g.74421996C>G | CA413656325 | SLC16A2 | c.359C>G (p.Ser120Cys) c.105C>G | |
X | g.74421996C>T | CA342116 | SLC16A2 | c.359C>T (p.Ser120Phe) c.105C>T | ClinVar dbSNP |