Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.37065605del | CA10021019 | PIGP | c.384del (p.Glu129AsnfsTer?) n.333del c.306del (p.Glu103AsnfsTer?) c.456del (p.Glu153AsnfsTer?) n.731del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37065605T>A | CA409918080 | PIGP | c.382A>T (p.Lys128Ter) n.331A>T c.304A>T (p.Lys102Ter) c.454A>T (p.Lys152Ter) n.729A>T | gnomAD v4 |
21 | g.37065605T>C | CA409918082 | PIGP | c.382A>G (p.Lys128Glu) n.331A>G c.304A>G (p.Lys102Glu) c.454A>G (p.Lys152Glu) n.729A>G | |
21 | g.37065605T>G | CA409918084 | PIGP | c.382A>C (p.Lys128Gln) n.331A>C c.304A>C (p.Lys102Gln) c.454A>C (p.Lys152Gln) n.729A>C | |
21 | g.37065606G>A | CA10021020 | PIGP | c.381C>T (p.Ala127=) n.330C>T c.303C>T (p.Ala101=) c.453C>T (p.Ala151=) n.728C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37065606G>C | CA512083126 | PIGP | c.381C>G (p.Ala127=) n.330C>G c.303C>G (p.Ala101=) c.453C>G (p.Ala151=) n.728C>G | |
21 | g.37065606G= | CA2388296172 | PIGP | c.381C= (p.Ala127=) n.330C= c.303C= (p.Ala101=) c.453C= (p.Ala151=) n.728C= | |
21 | g.37065606G>T | CA512083127 | PIGP | c.381C>A (p.Ala127=) n.330C>A c.303C>A (p.Ala101=) c.453C>A (p.Ala151=) n.728C>A | |
21 | g.37065607G>A | CA10021021 | PIGP | c.380C>T (p.Ala127Val) n.329C>T c.302C>T (p.Ala101Val) c.452C>T (p.Ala151Val) n.727C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37065607G>C | CA409918087 | PIGP | c.380C>G (p.Ala127Gly) n.329C>G c.302C>G (p.Ala101Gly) c.452C>G (p.Ala151Gly) n.727C>G | |
21 | g.37065607G= | CA2388296173 | PIGP | c.380C= (p.Ala127=) n.329C= c.302C= (p.Ala101=) c.452C= (p.Ala151=) n.727C= | |
21 | g.37065607G>T | CA409918090 | PIGP | c.380C>A (p.Ala127Asp) n.329C>A c.302C>A (p.Ala101Asp) c.452C>A (p.Ala151Asp) n.727C>A | |
21 | g.37065608C>A | CA409918096 | PIGP | c.379G>T (p.Ala127Ser) n.328G>T c.301G>T (p.Ala101Ser) c.451G>T (p.Ala151Ser) n.726G>T | |
21 | g.37065608C>G | CA409918098 | PIGP | c.379G>C (p.Ala127Pro) n.328G>C c.301G>C (p.Ala101Pro) c.451G>C (p.Ala151Pro) n.726G>C | |
21 | g.37065608C>T | CA409918093 | PIGP | c.379G>A (p.Ala127Thr) n.328G>A c.301G>A (p.Ala101Thr) c.451G>A (p.Ala151Thr) n.726G>A | |
21 | g.37065609T>A | CA512083128 | PIGP | c.378A>T (p.Ala126=) n.327A>T c.300A>T (p.Ala100=) c.450A>T (p.Ala150=) n.725A>T | |
21 | g.37065609T>C | CA512083130 | PIGP | c.378A>G (p.Ala126=) n.327A>G c.300A>G (p.Ala100=) c.450A>G (p.Ala150=) n.725A>G | dbSNP gnomAD v4 |
21 | g.37065609T>G | CA512083129 | PIGP | c.378A>C (p.Ala126=) n.327A>C c.300A>C (p.Ala100=) c.450A>C (p.Ala150=) n.725A>C | |
21 | g.37065609T= | CA2388296174 | PIGP | c.378A= (p.Ala126=) n.327A= c.300A= (p.Ala100=) c.450A= (p.Ala150=) n.725A= | |
21 | g.37065610G>A | CA409918104 | PIGP | c.377C>T (p.Ala126Val) n.326C>T c.299C>T (p.Ala100Val) c.449C>T (p.Ala150Val) n.724C>T | gnomAD v4 |
21 | g.37065610G>C | CA409918106 | PIGP | c.377C>G (p.Ala126Gly) n.326C>G c.299C>G (p.Ala100Gly) c.449C>G (p.Ala150Gly) n.724C>G | |
21 | g.37065610G>T | CA409918109 | PIGP | c.377C>A (p.Ala126Glu) n.326C>A c.299C>A (p.Ala100Glu) c.449C>A (p.Ala150Glu) n.724C>A | gnomAD v4 |
21 | g.37065611C>A | CA409918111 | PIGP | c.376G>T (p.Ala126Ser) n.325G>T c.298G>T (p.Ala100Ser) c.448G>T (p.Ala150Ser) n.723G>T | dbSNP gnomAD v2 gnomAD v4 |
21 | g.37065611C= | CA2388296176 | PIGP | c.376G= (p.Ala126=) n.325G= c.298G= (p.Ala100=) c.448G= (p.Ala150=) n.723G= | |
21 | g.37065611C>G | CA10021022 | PIGP | c.376G>C (p.Ala126Pro) n.325G>C c.298G>C (p.Ala100Pro) c.448G>C (p.Ala150Pro) n.723G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37065611C>T | CA409918115 | PIGP | c.376G>A (p.Ala126Thr) n.325G>A c.298G>A (p.Ala100Thr) c.448G>A (p.Ala150Thr) n.723G>A | |
21 | g.37065611_37065612delinsCA | CA2388296175 | PIGP | c.375_376delinsTG (p.Leu125=) n.324_325delinsTG c.297_298delinsTG (p.Leu99=) c.447_448delinsTG (p.Leu149=) n.722_723delinsTG | |
21 | g.37065612A>C | CA512083133 | PIGP | c.375T>G (p.Leu125=) n.324T>G c.297T>G (p.Leu99=) c.447T>G (p.Leu149=) n.722T>G | |
21 | g.37065612A>G | CA512083131 | PIGP | c.375T>C (p.Leu125=) n.324T>C c.297T>C (p.Leu99=) c.447T>C (p.Leu149=) n.722T>C | |
21 | g.37065612A>T | CA512083132 | PIGP | c.375T>A (p.Leu125=) n.324T>A c.297T>A (p.Leu99=) c.447T>A (p.Leu149=) n.722T>A | |
21 | g.37065613del | CA637791398 | PIGP | c.375del (p.Ala126GlnfsTer?) n.324del c.297del (p.Ala100GlnfsTer?) c.447del (p.Ala150GlnfsTer?) n.722del | dbSNP gnomAD v2 gnomAD v4 |
21 | g.37065613A>C | CA409918119 | PIGP | c.374T>G (p.Leu125Arg) n.323T>G c.296T>G (p.Leu99Arg) c.446T>G (p.Leu149Arg) n.721T>G | |
21 | g.37065613A>G | CA409918124 | PIGP | c.374T>C (p.Leu125Pro) n.323T>C c.296T>C (p.Leu99Pro) c.446T>C (p.Leu149Pro) n.721T>C | |
21 | g.37065613A>T | CA409918122 | PIGP | c.374T>A (p.Leu125His) n.323T>A c.296T>A (p.Leu99His) c.446T>A (p.Leu149His) n.721T>A | |
21 | g.37065614G>A | CA10021023 | PIGP | c.373C>T (p.Leu125Phe) n.322C>T c.295C>T (p.Leu99Phe) c.445C>T (p.Leu149Phe) n.720C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37065614G>C | CA409918128 | PIGP | c.373C>G (p.Leu125Val) n.322C>G c.295C>G (p.Leu99Val) c.445C>G (p.Leu149Val) n.720C>G | |
21 | g.37065614G= | CA2388296177 | PIGP | c.373C= (p.Leu125=) n.322C= c.295C= (p.Leu99=) c.445C= (p.Leu149=) n.720C= | |
21 | g.37065614G>T | CA409918130 | PIGP | c.373C>A (p.Leu125Ile) n.322C>A c.295C>A (p.Leu99Ile) c.445C>A (p.Leu149Ile) n.720C>A | |
21 | g.37065615A= | CA2388296178 | PIGP | c.372T= (p.Phe124=) n.321T= c.294T= (p.Phe98=) c.444T= (p.Phe148=) n.719T= | |
21 | g.37065615A>C | CA409918133 | PIGP | c.372T>G (p.Phe124Leu) n.321T>G c.294T>G (p.Phe98Leu) c.444T>G (p.Phe148Leu) n.719T>G | |
21 | g.37065615A>G | CA512083134 | PIGP | c.372T>C (p.Phe124=) n.321T>C c.294T>C (p.Phe98=) c.444T>C (p.Phe148=) n.719T>C | dbSNP gnomAD v4 COSMIC |
21 | g.37065615A>T | CA409918134 | PIGP | c.372T>A (p.Phe124Leu) n.321T>A c.294T>A (p.Phe98Leu) c.444T>A (p.Phe148Leu) n.719T>A | |
21 | g.37065617del | CA2654449992 | PIGP | c.372del (p.Ala126GlnfsTer?) n.321del c.294del (p.Ala100GlnfsTer?) c.444del (p.Ala150GlnfsTer?) n.719del | gnomAD v4 |
21 | g.37065616A>C | CA409918139 | PIGP | c.371T>G (p.Phe124Cys) n.320T>G c.293T>G (p.Phe98Cys) c.443T>G (p.Phe148Cys) n.718T>G | |
21 | g.37065616A>G | CA409918141 | PIGP | c.371T>C (p.Phe124Ser) n.320T>C c.293T>C (p.Phe98Ser) c.443T>C (p.Phe148Ser) n.718T>C | |
21 | g.37065616A>T | CA409918137 | PIGP | c.371T>A (p.Phe124Tyr) n.320T>A c.293T>A (p.Phe98Tyr) c.443T>A (p.Phe148Tyr) n.718T>A | |
21 | g.37065617A= | CA2388296179 | PIGP | c.370T= (p.Phe124=) n.319T= c.292T= (p.Phe98=) c.442T= (p.Phe148=) n.717T= | |
21 | g.37065617A>C | CA10021024 | PIGP | c.370T>G (p.Phe124Val) n.319T>G c.292T>G (p.Phe98Val) c.442T>G (p.Phe148Val) n.717T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37065617A>G | CA409918147 | PIGP | c.370T>C (p.Phe124Leu) n.319T>C c.292T>C (p.Phe98Leu) c.442T>C (p.Phe148Leu) n.717T>C | |
21 | g.37065617A>T | CA409918146 | PIGP | c.370T>A (p.Phe124Ile) n.319T>A c.292T>A (p.Phe98Ile) c.442T>A (p.Phe148Ile) n.717T>A | |
21 | g.37065618G>A | CA10021025 | PIGP | c.369C>T (p.Phe123=) n.318C>T c.291C>T (p.Phe97=) c.441C>T (p.Phe147=) n.716C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37065618G>C | CA409918151 | PIGP | c.369C>G (p.Phe123Leu) n.318C>G c.291C>G (p.Phe97Leu) c.441C>G (p.Phe147Leu) n.716C>G | |
21 | g.37065618G= | CA2388296180 | PIGP | c.369C= (p.Phe123=) n.318C= c.291C= (p.Phe97=) c.441C= (p.Phe147=) n.716C= | |
21 | g.37065618G>T | CA409918154 | PIGP | c.369C>A (p.Phe123Leu) n.318C>A c.291C>A (p.Phe97Leu) c.441C>A (p.Phe147Leu) n.716C>A | gnomAD v4 COSMIC |
21 | g.37065619A= | CA2388296181 | PIGP | c.368T= (p.Phe123=) n.317T= c.290T= (p.Phe97=) c.440T= (p.Phe147=) n.715T= | |
21 | g.37065619A>C | CA409918157 | PIGP | c.368T>G (p.Phe123Cys) n.317T>G c.290T>G (p.Phe97Cys) c.440T>G (p.Phe147Cys) n.715T>G | |
21 | g.37065619A>G | CA409918159 | PIGP | c.368T>C (p.Phe123Ser) n.317T>C c.290T>C (p.Phe97Ser) c.440T>C (p.Phe147Ser) n.715T>C | dbSNP |
21 | g.37065619A>T | CA409918161 | PIGP | c.368T>A (p.Phe123Tyr) n.317T>A c.290T>A (p.Phe97Tyr) c.440T>A (p.Phe147Tyr) n.715T>A | |
21 | g.37065620A>C | CA409918165 | PIGP | c.367T>G (p.Phe123Val) n.316T>G c.289T>G (p.Phe97Val) c.439T>G (p.Phe147Val) n.714T>G | |
21 | g.37065620A>G | CA409918167 | PIGP | c.367T>C (p.Phe123Leu) n.316T>C c.289T>C (p.Phe97Leu) c.439T>C (p.Phe147Leu) n.714T>C | |
21 | g.37065620A>T | CA409918169 | PIGP | c.367T>A (p.Phe123Ile) n.316T>A c.289T>A (p.Phe97Ile) c.439T>A (p.Phe147Ile) n.714T>A | |
21 | g.37065621C>A | CA409918171 | PIGP | c.366G>T (p.Met122Ile) n.315G>T c.288G>T (p.Met96Ile) c.438G>T (p.Met146Ile) n.713G>T | |
21 | g.37065621C>G | CA409918173 | PIGP | c.366G>C (p.Met122Ile) n.315G>C c.288G>C (p.Met96Ile) c.438G>C (p.Met146Ile) n.713G>C | gnomAD v4 |
21 | g.37065621C>T | CA409918175 | PIGP | c.366G>A (p.Met122Ile) n.315G>A c.288G>A (p.Met96Ile) c.438G>A (p.Met146Ile) n.713G>A | gnomAD v4 |
21 | g.37065622A>C | CA409918184 | PIGP | c.365T>G (p.Met122Arg) n.314T>G c.287T>G (p.Met96Arg) c.437T>G (p.Met146Arg) n.712T>G | |
21 | g.37065622A>G | CA409918178 | PIGP | c.365T>C (p.Met122Thr) n.314T>C c.287T>C (p.Met96Thr) c.437T>C (p.Met146Thr) n.712T>C | gnomAD v4 |
21 | g.37065622A>T | CA409918181 | PIGP | c.365T>A (p.Met122Lys) n.314T>A c.287T>A (p.Met96Lys) c.437T>A (p.Met146Lys) n.712T>A | |
21 | g.37065623T>A | CA409918187 | PIGP | c.364A>T (p.Met122Leu) n.313A>T c.286A>T (p.Met96Leu) c.436A>T (p.Met146Leu) n.711A>T | |
21 | g.37065623T>C | CA409918189 | PIGP | c.364A>G (p.Met122Val) n.313A>G c.286A>G (p.Met96Val) c.436A>G (p.Met146Val) n.711A>G | |
21 | g.37065623T>G | CA409918191 | PIGP | c.364A>C (p.Met122Leu) n.313A>C c.286A>C (p.Met96Leu) c.436A>C (p.Met146Leu) n.711A>C | |
21 | g.37065624T>A | CA409918195 | PIGP | c.363A>T (p.Gln121His) n.312A>T c.285A>T (p.Gln95His) c.435A>T (p.Gln145His) n.710A>T | |
21 | g.37065624T>C | CA512083135 | PIGP | c.363A>G (p.Gln121=) n.312A>G c.285A>G (p.Gln95=) c.435A>G (p.Gln145=) n.710A>G | COSMIC |
21 | g.37065624T>G | CA409918197 | PIGP | c.363A>C (p.Gln121His) n.312A>C c.285A>C (p.Gln95His) c.435A>C (p.Gln145His) n.710A>C | |
21 | g.37065625T>A | CA409918199 | PIGP | c.362A>T (p.Gln121Leu) n.311A>T c.284A>T (p.Gln95Leu) c.434A>T (p.Gln145Leu) n.709A>T | |
21 | g.37065625T>C | CA409918200 | PIGP | c.362A>G (p.Gln121Arg) n.311A>G c.284A>G (p.Gln95Arg) c.434A>G (p.Gln145Arg) n.709A>G | |
21 | g.37065625T>G | CA409918202 | PIGP | c.362A>C (p.Gln121Pro) n.311A>C c.284A>C (p.Gln95Pro) c.434A>C (p.Gln145Pro) n.709A>C | |
21 | g.37065626G>A | CA409918204 | PIGP | c.361C>T (p.Gln121Ter) n.310C>T c.283C>T (p.Gln95Ter) c.433C>T (p.Gln145Ter) n.708C>T | ClinVar dbSNP gnomAD v4 |
21 | g.37065626G>C | CA409918206 | PIGP | c.361C>G (p.Gln121Glu) n.310C>G c.283C>G (p.Gln95Glu) c.433C>G (p.Gln145Glu) n.708C>G | |
21 | g.37065626G>T | CA409918208 | PIGP | c.361C>A (p.Gln121Lys) n.310C>A c.283C>A (p.Gln95Lys) c.433C>A (p.Gln145Lys) n.708C>A | |
21 | g.37065627G>A | CA512083136 | PIGP | c.360C>T (p.Asn120=) n.309C>T c.282C>T (p.Asn94=) c.432C>T (p.Asn144=) n.707C>T | |
21 | g.37065627G>C | CA409918213 | PIGP | c.360C>G (p.Asn120Lys) n.309C>G c.282C>G (p.Asn94Lys) c.432C>G (p.Asn144Lys) n.707C>G | |
21 | g.37065627G>T | CA409918211 | PIGP | c.360C>A (p.Asn120Lys) n.309C>A c.282C>A (p.Asn94Lys) c.432C>A (p.Asn144Lys) n.707C>A | |
21 | g.37065628T>A | CA409918217 | PIGP | c.359A>T (p.Asn120Ile) n.308A>T c.281A>T (p.Asn94Ile) c.431A>T (p.Asn144Ile) n.706A>T | |
21 | g.37065628T>C | CA409918219 | PIGP | c.359A>G (p.Asn120Ser) n.308A>G c.281A>G (p.Asn94Ser) c.431A>G (p.Asn144Ser) n.706A>G | |
21 | g.37065628T>G | CA409918221 | PIGP | c.359A>C (p.Asn120Thr) n.308A>C c.281A>C (p.Asn94Thr) c.431A>C (p.Asn144Thr) n.706A>C | |
21 | g.37065629T>A | CA409918224 | PIGP | c.358A>T (p.Asn120Tyr) n.307A>T c.280A>T (p.Asn94Tyr) c.430A>T (p.Asn144Tyr) n.705A>T | |
21 | g.37065629T>C | CA409918225 | PIGP | c.358A>G (p.Asn120Asp) n.307A>G c.280A>G (p.Asn94Asp) c.430A>G (p.Asn144Asp) n.705A>G | |
21 | g.37065629T>G | CA409918227 | PIGP | c.358A>C (p.Asn120His) n.307A>C c.280A>C (p.Asn94His) c.430A>C (p.Asn144His) n.705A>C | |
21 | g.37065630T>A | CA512083137 | PIGP | c.357A>T (p.Val119=) n.306A>T c.279A>T (p.Val93=) c.429A>T (p.Val143=) n.704A>T | |
21 | g.37065630T>C | CA512083138 | PIGP | c.357A>G (p.Val119=) n.306A>G c.279A>G (p.Val93=) c.429A>G (p.Val143=) n.704A>G | |
21 | g.37065630T>G | CA512083139 | PIGP | c.357A>C (p.Val119=) n.306A>C c.279A>C (p.Val93=) c.429A>C (p.Val143=) n.704A>C | |
21 | g.37065631A>C | CA409918235 | PIGP | c.356T>G (p.Val119Gly) n.305T>G c.278T>G (p.Val93Gly) c.428T>G (p.Val143Gly) n.703T>G | |
21 | g.37065631A>G | CA409918230 | PIGP | c.356T>C (p.Val119Ala) n.305T>C c.278T>C (p.Val93Ala) c.428T>C (p.Val143Ala) n.703T>C | |
21 | g.37065631A>T | CA409918233 | PIGP | c.356T>A (p.Val119Glu) n.305T>A c.278T>A (p.Val93Glu) c.428T>A (p.Val143Glu) n.703T>A | |
21 | g.37065632C>A | CA409918238 | PIGP | c.355G>T (p.Val119Leu) n.304G>T c.277G>T (p.Val93Leu) c.427G>T (p.Val143Leu) n.702G>T | |
21 | g.37065632C>G | CA409918240 | PIGP | c.355G>C (p.Val119Leu) n.304G>C c.277G>C (p.Val93Leu) c.427G>C (p.Val143Leu) n.702G>C | |
21 | g.37065632C>T | CA409918242 | PIGP | c.355G>A (p.Val119Ile) n.304G>A c.277G>A (p.Val93Ile) c.427G>A (p.Val143Ile) n.702G>A | |
21 | g.37065633T>A | CA409918245 | PIGP | c.354A>T (p.Glu118Asp) n.303A>T c.276A>T (p.Glu92Asp) c.426A>T (p.Glu142Asp) n.701A>T | |
21 | g.37065633T>C | CA512083140 | PIGP | c.354A>G (p.Glu118=) n.303A>G c.276A>G (p.Glu92=) c.426A>G (p.Glu142=) n.701A>G | |
21 | g.37065633T>G | CA409918247 | PIGP | c.354A>C (p.Glu118Asp) n.303A>C c.276A>C (p.Glu92Asp) c.426A>C (p.Glu142Asp) n.701A>C | |
21 | g.37065634T>A | CA409918249 | PIGP | c.353A>T (p.Glu118Val) n.302A>T c.275A>T (p.Glu92Val) c.425A>T (p.Glu142Val) n.700A>T | |
21 | g.37065634T>C | CA409918253 | PIGP | c.353A>G (p.Glu118Gly) n.302A>G c.275A>G (p.Glu92Gly) c.425A>G (p.Glu142Gly) n.700A>G | |
21 | g.37065634T>G | CA409918251 | PIGP | c.353A>C (p.Glu118Ala) n.302A>C c.275A>C (p.Glu92Ala) c.425A>C (p.Glu142Ala) n.700A>C | |
21 | g.37065635C>A | CA409918257 | PIGP | c.352G>T (p.Glu118Ter) n.301G>T c.274G>T (p.Glu92Ter) c.424G>T (p.Glu142Ter) n.699G>T | |
21 | g.37065635C= | CA2388296182 | PIGP | c.352G= (p.Glu118=) n.301G= c.274G= (p.Glu92=) c.424G= (p.Glu142=) n.699G= | |
21 | g.37065635C>G | CA320402116 | PIGP | c.352G>C (p.Glu118Gln) n.301G>C c.274G>C (p.Glu92Gln) c.424G>C (p.Glu142Gln) n.699G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.37065635C>T | CA409918261 | PIGP | c.352G>A (p.Glu118Lys) n.301G>A c.274G>A (p.Glu92Lys) c.424G>A (p.Glu142Lys) n.699G>A | |
21 | g.37065636A= | CA2388296183 | PIGP | c.351T= (p.Ser117=) n.300T= c.273T= (p.Ser91=) c.423T= (p.Ser141=) n.698T= | |
21 | g.37065636A>C | CA409918265 | PIGP | c.351T>G (p.Ser117Arg) n.300T>G c.273T>G (p.Ser91Arg) c.423T>G (p.Ser141Arg) n.698T>G | |
21 | g.37065636A>G | CA512083141 | PIGP | c.351T>C (p.Ser117=) n.300T>C c.273T>C (p.Ser91=) c.423T>C (p.Ser141=) n.698T>C | dbSNP |
21 | g.37065636A>T | CA409918267 | PIGP | c.351T>A (p.Ser117Arg) n.300T>A c.273T>A (p.Ser91Arg) c.423T>A (p.Ser141Arg) n.698T>A | |
21 | g.37065637C>A | CA409918271 | PIGP | c.350G>T (p.Ser117Ile) n.299G>T c.272G>T (p.Ser91Ile) c.422G>T (p.Ser141Ile) n.697G>T | |
21 | g.37065637C>G | CA409918273 | PIGP | c.350G>C (p.Ser117Thr) n.299G>C c.272G>C (p.Ser91Thr) c.422G>C (p.Ser141Thr) n.697G>C | |
21 | g.37065637C>T | CA409918275 | PIGP | c.350G>A (p.Ser117Asn) n.299G>A c.272G>A (p.Ser91Asn) c.422G>A (p.Ser141Asn) n.697G>A | |
21 | g.37065638T>A | CA409918278 | PIGP | c.349A>T (p.Ser117Cys) n.298A>T c.271A>T (p.Ser91Cys) c.421A>T (p.Ser141Cys) n.696A>T | |
21 | g.37065638T>C | CA409918280 | PIGP | c.349A>G (p.Ser117Gly) n.298A>G c.271A>G (p.Ser91Gly) c.421A>G (p.Ser141Gly) n.696A>G | gnomAD v4 |
21 | g.37065638T>G | CA409918282 | PIGP | c.349A>C (p.Ser117Arg) n.298A>C c.271A>C (p.Ser91Arg) c.421A>C (p.Ser141Arg) n.696A>C | |
21 | g.37065639A>C | CA409918286 | PIGP | c.348T>G (p.Ile116Met) n.297T>G c.270T>G (p.Ile90Met) c.420T>G (p.Ile140Met) n.695T>G | |
21 | g.37065639A>G | CA512083142 | PIGP | c.348T>C (p.Ile116=) n.297T>C c.270T>C (p.Ile90=) c.420T>C (p.Ile140=) n.695T>C | |
21 | g.37065639A>T | CA512083143 | PIGP | c.348T>A (p.Ile116=) n.297T>A c.270T>A (p.Ile90=) c.420T>A (p.Ile140=) n.695T>A | |
21 | g.37065640del | CA2654449993 | PIGP | c.348del (p.Ser117ValfsTer3) n.297del c.270del (p.Ser91ValfsTer3) c.420del (p.Ser141ValfsTer3) n.695del | gnomAD v4 |
21 | g.37065640A= | CA2388296184 | PIGP | c.347T= (p.Ile116=) n.296T= c.269T= (p.Ile90=) c.419T= (p.Ile140=) n.694T= | |
21 | g.37065640A>C | CA409918291 | PIGP | c.347T>G (p.Ile116Ser) n.296T>G c.269T>G (p.Ile90Ser) c.419T>G (p.Ile140Ser) n.694T>G | |
21 | g.37065640A>G | CA10021026 | PIGP | c.347T>C (p.Ile116Thr) n.296T>C c.269T>C (p.Ile90Thr) c.419T>C (p.Ile140Thr) n.694T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.37065640A>T | CA409918289 | PIGP | c.347T>A (p.Ile116Asn) n.296T>A c.269T>A (p.Ile90Asn) c.419T>A (p.Ile140Asn) n.694T>A | |
21 | g.37065641T>A | CA409918297 | PIGP | c.346A>T (p.Ile116Phe) n.295A>T c.268A>T (p.Ile90Phe) c.418A>T (p.Ile140Phe) n.693A>T | |
21 | g.37065641T>C | CA409918295 | PIGP | c.346A>G (p.Ile116Val) n.295A>G c.268A>G (p.Ile90Val) c.418A>G (p.Ile140Val) n.693A>G | gnomAD v4 COSMIC |
21 | g.37065641T>G | CA409918299 | PIGP | c.346A>C (p.Ile116Leu) n.295A>C c.268A>C (p.Ile90Leu) c.418A>C (p.Ile140Leu) n.693A>C | |
21 | g.37065642A= | CA2388296185 | PIGP | c.345T= (p.Ser115=) n.294T= c.267T= (p.Ser89=) c.417T= (p.Ser139=) n.692T= | |
21 | g.37065642A>C | CA512083144 | PIGP | c.345T>G (p.Ser115=) n.294T>G c.267T>G (p.Ser89=) c.417T>G (p.Ser139=) n.692T>G | |
21 | g.37065642A>G | CA512083145 | PIGP | c.345T>C (p.Ser115=) n.294T>C c.267T>C (p.Ser89=) c.417T>C (p.Ser139=) n.692T>C | ClinVar dbSNP gnomAD v4 |
21 | g.37065642A>T | CA512083146 | PIGP | c.345T>A (p.Ser115=) n.294T>A c.267T>A (p.Ser89=) c.417T>A (p.Ser139=) n.692T>A | |
21 | g.37065643G>A | CA409918302 | PIGP | c.344C>T (p.Ser115Phe) n.293C>T c.266C>T (p.Ser89Phe) c.416C>T (p.Ser139Phe) n.691C>T | |
21 | g.37065643G>C | CA409918306 | PIGP | c.344C>G (p.Ser115Cys) n.293C>G c.266C>G (p.Ser89Cys) c.416C>G (p.Ser139Cys) n.691C>G | gnomAD v4 |
21 | g.37065643G>T | CA409918304 | PIGP | c.344C>A (p.Ser115Tyr) n.293C>A c.266C>A (p.Ser89Tyr) c.416C>A (p.Ser139Tyr) n.691C>A | |
21 | g.37065644A= | CA2388296186 | PIGP | c.343T= (p.Ser115=) n.292T= c.265T= (p.Ser89=) c.415T= (p.Ser139=) n.690T= | |
21 | g.37065644A>C | CA10021027 | PIGP | c.343T>G (p.Ser115Ala) n.292T>G c.265T>G (p.Ser89Ala) c.415T>G (p.Ser139Ala) n.690T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37065644A>G | CA409918311 | PIGP | c.343T>C (p.Ser115Pro) n.292T>C c.265T>C (p.Ser89Pro) c.415T>C (p.Ser139Pro) n.690T>C | dbSNP |
21 | g.37065644A>T | CA409918313 | PIGP | c.343T>A (p.Ser115Thr) n.292T>A c.265T>A (p.Ser89Thr) c.415T>A (p.Ser139Thr) n.690T>A | |
21 | g.37065645A>C | CA409918316 | PIGP | c.342T>G (p.Ile114Met) n.291T>G c.264T>G (p.Ile88Met) c.414T>G (p.Ile138Met) n.689T>G | |
21 | g.37065645A>G | CA512083148 | PIGP | c.342T>C (p.Ile114=) n.291T>C c.264T>C (p.Ile88=) c.414T>C (p.Ile138=) n.689T>C | |
21 | g.37065645A>T | CA512083147 | PIGP | c.342T>A (p.Ile114=) n.291T>A c.264T>A (p.Ile88=) c.414T>A (p.Ile138=) n.689T>A | |
21 | g.37065646A= | CA2388296187 | PIGP | c.341T= (p.Ile114=) n.290T= c.263T= (p.Ile88=) c.413T= (p.Ile138=) n.688T= | |
21 | g.37065646A>C | CA409918319 | PIGP | c.341T>G (p.Ile114Ser) n.290T>G c.263T>G (p.Ile88Ser) c.413T>G (p.Ile138Ser) n.688T>G | |
21 | g.37065646A>G | CA10021028 | PIGP | c.341T>C (p.Ile114Thr) n.290T>C c.263T>C (p.Ile88Thr) c.413T>C (p.Ile138Thr) n.688T>C | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
21 | g.37065646A>T | CA409918322 | PIGP | c.341T>A (p.Ile114Asn) n.290T>A c.263T>A (p.Ile88Asn) c.413T>A (p.Ile138Asn) n.688T>A | |
21 | g.37065647T>A | CA409918325 | PIGP | c.340A>T (p.Ile114Phe) n.289A>T c.262A>T (p.Ile88Phe) c.412A>T (p.Ile138Phe) n.687A>T | |
21 | g.37065647T>C | CA409918327 | PIGP | c.340A>G (p.Ile114Val) n.289A>G c.262A>G (p.Ile88Val) c.412A>G (p.Ile138Val) n.687A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37065647T>G | CA409918329 | PIGP | c.340A>C (p.Ile114Leu) n.289A>C c.262A>C (p.Ile88Leu) c.412A>C (p.Ile138Leu) n.687A>C | |
21 | g.37065647T= | CA2388296188 | PIGP | c.340A= (p.Ile114=) n.289A= c.262A= (p.Ile88=) c.412A= (p.Ile138=) n.687A= | |
21 | g.37065648A= | CA2388296189 | PIGP | c.339T= (p.Asp113=) n.288T= c.261T= (p.Asp87=) c.411T= (p.Asp137=) n.686T= | |
21 | g.37065648A>C | CA409918333 | PIGP | c.339T>G (p.Asp113Glu) n.288T>G c.261T>G (p.Asp87Glu) c.411T>G (p.Asp137Glu) n.686T>G | dbSNP gnomAD v4 |
21 | g.37065648A>G | CA512083149 | PIGP | c.339T>C (p.Asp113=) n.288T>C c.261T>C (p.Asp87=) c.411T>C (p.Asp137=) n.686T>C | dbSNP gnomAD v4 |
21 | g.37065648A>T | CA409918337 | PIGP | c.339T>A (p.Asp113Glu) n.288T>A c.261T>A (p.Asp87Glu) c.411T>A (p.Asp137Glu) n.686T>A | |
21 | g.37065649T>A | CA409918342 | PIGP | c.338A>T (p.Asp113Val) n.287A>T c.260A>T (p.Asp87Val) c.410A>T (p.Asp137Val) n.685A>T | dbSNP gnomAD v3 gnomAD v4 |
21 | g.37065649T>C | CA409918346 | PIGP | c.338A>G (p.Asp113Gly) n.287A>G c.260A>G (p.Asp87Gly) c.410A>G (p.Asp137Gly) n.685A>G | |
21 | g.37065649T>G | CA409918344 | PIGP | c.338A>C (p.Asp113Ala) n.287A>C c.260A>C (p.Asp87Ala) c.410A>C (p.Asp137Ala) n.685A>C | |
21 | g.37065649T= | CA2388296190 | PIGP | c.338A= (p.Asp113=) n.287A= c.260A= (p.Asp87=) c.410A= (p.Asp137=) n.685A= | |
21 | g.37065650C>A | CA409918349 | PIGP | c.337G>T (p.Asp113Tyr) n.286G>T c.259G>T (p.Asp87Tyr) c.409G>T (p.Asp137Tyr) n.684G>T | |
21 | g.37065650C= | CA2388296191 | PIGP | c.337G= (p.Asp113=) n.286G= c.259G= (p.Asp87=) c.409G= (p.Asp137=) n.684G= | |
21 | g.37065650C>G | CA409918351 | PIGP | c.337G>C (p.Asp113His) n.286G>C c.259G>C (p.Asp87His) c.409G>C (p.Asp137His) n.684G>C | |
21 | g.37065650C>T | CA409918352 | PIGP | c.337G>A (p.Asp113Asn) n.286G>A c.259G>A (p.Asp87Asn) c.409G>A (p.Asp137Asn) n.684G>A | dbSNP gnomAD v4 |
21 | g.37065651T>A | CA409918355 | PIGP | c.336A>T (p.Arg112Ser) n.285A>T c.258A>T (p.Arg86Ser) c.408A>T (p.Arg136Ser) n.683A>T | |
21 | g.37065651T>C | CA512083150 | PIGP | c.336A>G (p.Arg112=) n.285A>G c.258A>G (p.Arg86=) c.408A>G (p.Arg136=) n.683A>G | |
21 | g.37065651T>G | CA10021029 | PIGP | c.336A>C (p.Arg112Ser) n.285A>C c.258A>C (p.Arg86Ser) c.408A>C (p.Arg136Ser) n.683A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37065651T= | CA2388296192 | PIGP | c.336A= (p.Arg112=) n.285A= c.258A= (p.Arg86=) c.408A= (p.Arg136=) n.683A= | |
21 | g.37065652C>A | CA409918359 | PIGP | c.335G>T (p.Arg112Ile) n.284G>T c.257G>T (p.Arg86Ile) c.407G>T (p.Arg136Ile) n.682G>T | |
21 | g.37065652C>G | CA409918360 | PIGP | c.335G>C (p.Arg112Thr) n.284G>C c.257G>C (p.Arg86Thr) c.407G>C (p.Arg136Thr) n.682G>C | |
21 | g.37065652C>T | CA409918363 | PIGP | c.335G>A (p.Arg112Lys) n.284G>A c.257G>A (p.Arg86Lys) c.407G>A (p.Arg136Lys) n.682G>A | gnomAD v4 |
21 | g.37065653T>A | CA409918364 | PIGP | c.334A>T (p.Arg112Ter) n.283A>T c.256A>T (p.Arg86Ter) c.406A>T (p.Arg136Ter) n.681A>T | |
21 | g.37065653T>C | CA409918366 | PIGP | c.334A>G (p.Arg112Gly) n.283A>G c.256A>G (p.Arg86Gly) c.406A>G (p.Arg136Gly) n.681A>G | |
21 | g.37065653T>G | CA512083151 | PIGP | c.334A>C (p.Arg112=) n.283A>C c.256A>C (p.Arg86=) c.406A>C (p.Arg136=) n.681A>C | |
21 | g.37065654T>A | CA10021030 | PIGP | c.333A>T (p.Leu111Phe) n.282A>T c.255A>T (p.Leu85Phe) c.405A>T (p.Leu135Phe) n.680A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37065654T>C | CA512083152 | PIGP | c.333A>G (p.Leu111=) n.282A>G c.255A>G (p.Leu85=) c.405A>G (p.Leu135=) n.680A>G | |
21 | g.37065654T>G | CA409918368 | PIGP | c.333A>C (p.Leu111Phe) n.282A>C c.255A>C (p.Leu85Phe) c.405A>C (p.Leu135Phe) n.680A>C | |
21 | g.37065654T= | CA2388296193 | PIGP | c.333A= (p.Leu111=) n.282A= c.255A= (p.Leu85=) c.405A= (p.Leu135=) n.680A= | |
21 | g.37065655A= | CA2388296194 | PIGP | c.332T= (p.Leu111=) n.281T= c.254T= (p.Leu85=) c.404T= (p.Leu135=) n.679T= | |
21 | g.37065655A>C | CA10021031 | PIGP | c.332T>G (p.Leu111Ter) n.281T>G c.254T>G (p.Leu85Ter) c.404T>G (p.Leu135Ter) n.679T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.37065655A>G | CA409918374 | PIGP | c.332T>C (p.Leu111Ser) n.281T>C c.254T>C (p.Leu85Ser) c.404T>C (p.Leu135Ser) n.679T>C | dbSNP gnomAD v2 |
21 | g.37065655A>T | CA409918375 | PIGP | c.332T>A (p.Leu111Ter) n.281T>A c.254T>A (p.Leu85Ter) c.404T>A (p.Leu135Ter) n.679T>A | |
21 | g.37065656A>C | CA409918377 | PIGP | c.331T>G (p.Leu111Val) n.280T>G c.253T>G (p.Leu85Val) c.403T>G (p.Leu135Val) n.678T>G | |
21 | g.37065656A>G | CA512083153 | PIGP | c.331T>C (p.Leu111=) n.280T>C c.253T>C (p.Leu85=) c.403T>C (p.Leu135=) n.678T>C | |
21 | g.37065656A>T | CA409918379 | PIGP | c.331T>A (p.Leu111Ile) n.280T>A c.253T>A (p.Leu85Ile) c.403T>A (p.Leu135Ile) n.678T>A | |
21 | g.37065657G>A | CA512083154 | PIGP | c.330C>T (p.Ala110=) n.279C>T c.252C>T (p.Ala84=) c.402C>T (p.Ala134=) n.677C>T | |
21 | g.37065657G>C | CA512083156 | PIGP | c.330C>G (p.Ala110=) n.279C>G c.252C>G (p.Ala84=) c.402C>G (p.Ala134=) n.677C>G | |
21 | g.37065657G>T | CA512083155 | PIGP | c.330C>A (p.Ala110=) n.279C>A c.252C>A (p.Ala84=) c.402C>A (p.Ala134=) n.677C>A | |
21 | g.37065658G>A | CA409918384 | PIGP | c.329C>T (p.Ala110Val) n.278C>T c.251C>T (p.Ala84Val) c.401C>T (p.Ala134Val) n.676C>T | |
21 | g.37065658G>C | CA409918386 | PIGP | c.329C>G (p.Ala110Gly) n.278C>G c.251C>G (p.Ala84Gly) c.401C>G (p.Ala134Gly) n.676C>G | |
21 | g.37065658G>T | CA409918388 | PIGP | c.329C>A (p.Ala110Asp) n.278C>A c.251C>A (p.Ala84Asp) c.401C>A (p.Ala134Asp) n.676C>A | |
21 | g.37065659C>A | CA409918391 | PIGP | c.328G>T (p.Ala110Ser) n.277G>T c.250G>T (p.Ala84Ser) c.400G>T (p.Ala134Ser) n.675G>T | |
21 | g.37065659C>G | CA409918393 | PIGP | c.328G>C (p.Ala110Pro) n.277G>C c.250G>C (p.Ala84Pro) c.400G>C (p.Ala134Pro) n.675G>C | |
21 | g.37065659C>T | CA409918395 | PIGP | c.328G>A (p.Ala110Thr) n.277G>A c.250G>A (p.Ala84Thr) c.400G>A (p.Ala134Thr) n.675G>A | |
21 | g.37065660T>A | CA512083158 | PIGP | c.327A>T (p.Pro109=) n.276A>T c.249A>T (p.Pro83=) c.399A>T (p.Pro133=) n.674A>T | |
21 | g.37065660T>C | CA512083157 | PIGP | c.327A>G (p.Pro109=) n.276A>G c.249A>G (p.Pro83=) c.399A>G (p.Pro133=) n.674A>G | |
21 | g.37065660T>G | CA10021032 | PIGP | c.327A>C (p.Pro109=) n.276A>C c.249A>C (p.Pro83=) c.399A>C (p.Pro133=) n.674A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37065660T= | CA2388296195 | PIGP | c.327A= (p.Pro109=) n.276A= c.249A= (p.Pro83=) c.399A= (p.Pro133=) n.674A= | |
21 | g.37065661G>A | CA409918402 | PIGP | c.326C>T (p.Pro109Leu) n.275C>T c.248C>T (p.Pro83Leu) c.398C>T (p.Pro133Leu) n.673C>T | |
21 | g.37065661G>C | CA409918405 | PIGP | c.326C>G (p.Pro109Arg) n.275C>G c.248C>G (p.Pro83Arg) c.398C>G (p.Pro133Arg) n.673C>G | |
21 | g.37065661G>T | CA409918400 | PIGP | c.326C>A (p.Pro109Gln) n.275C>A c.248C>A (p.Pro83Gln) c.398C>A (p.Pro133Gln) n.673C>A | |
21 | g.37065662G>A | CA409918408 | PIGP | c.325C>T (p.Pro109Ser) n.274C>T c.247C>T (p.Pro83Ser) c.397C>T (p.Pro133Ser) n.672C>T | |
21 | g.37065662G>C | CA409918410 | PIGP | c.325C>G (p.Pro109Ala) n.274C>G c.247C>G (p.Pro83Ala) c.397C>G (p.Pro133Ala) n.672C>G | |
21 | g.37065662G>T | CA409918411 | PIGP | c.325C>A (p.Pro109Thr) n.274C>A c.247C>A (p.Pro83Thr) c.397C>A (p.Pro133Thr) n.672C>A | |
21 | g.37065663A>C | CA409918412 | PIGP | c.324T>G (p.Ile108Met) n.273T>G c.246T>G (p.Ile82Met) c.396T>G (p.Ile132Met) n.671T>G | |
21 | g.37065663A>G | CA512083159 | PIGP | c.324T>C (p.Ile108=) n.273T>C c.246T>C (p.Ile82=) c.396T>C (p.Ile132=) n.671T>C | |
21 | g.37065663A>T | CA512083160 | PIGP | c.324T>A (p.Ile108=) n.273T>A c.246T>A (p.Ile82=) c.396T>A (p.Ile132=) n.671T>A | |
21 | g.37065664A>C | CA409918415 | PIGP | c.323T>G (p.Ile108Ser) n.272T>G c.245T>G (p.Ile82Ser) c.395T>G (p.Ile132Ser) n.670T>G | |
21 | g.37065664A>G | CA409918414 | PIGP | c.323T>C (p.Ile108Thr) n.272T>C c.245T>C (p.Ile82Thr) c.395T>C (p.Ile132Thr) n.670T>C | |
21 | g.37065664A>T | CA409918413 | PIGP | c.323T>A (p.Ile108Asn) n.272T>A c.245T>A (p.Ile82Asn) c.395T>A (p.Ile132Asn) n.670T>A | |
21 | g.37065665T>A | CA320402149 | PIGP | c.322A>T (p.Ile108Phe) n.271A>T c.244A>T (p.Ile82Phe) c.394A>T (p.Ile132Phe) n.669A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37065665T>C | CA10021033 | PIGP | c.322A>G (p.Ile108Val) n.271A>G c.244A>G (p.Ile82Val) c.394A>G (p.Ile132Val) n.669A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37065665T>G | CA409918416 | PIGP | c.322A>C (p.Ile108Leu) n.271A>C c.244A>C (p.Ile82Leu) c.394A>C (p.Ile132Leu) n.669A>C | |
21 | g.37065665T= | CA2388296196 | PIGP | c.322A= (p.Ile108=) n.271A= c.244A= (p.Ile82=) c.394A= (p.Ile132=) n.669A= | |
21 | g.37065666G>A | CA512083161 | PIGP | c.321C>T (p.Ala107=) n.270C>T c.243C>T (p.Ala81=) c.393C>T (p.Ala131=) n.668C>T | |
21 | g.37065666G>C | CA512083162 | PIGP | c.321C>G (p.Ala107=) n.270C>G c.243C>G (p.Ala81=) c.393C>G (p.Ala131=) n.668C>G | |
21 | g.37065666G>T | CA512083163 | PIGP | c.321C>A (p.Ala107=) n.270C>A c.243C>A (p.Ala81=) c.393C>A (p.Ala131=) n.668C>A | |
21 | g.37065667G>A | CA320402150 | PIGP | c.320C>T (p.Ala107Val) n.269C>T c.242C>T (p.Ala81Val) c.392C>T (p.Ala131Val) n.667C>T | dbSNP gnomAD v4 |
21 | g.37065667G>C | CA409918417 | PIGP | c.320C>G (p.Ala107Gly) n.269C>G c.242C>G (p.Ala81Gly) c.392C>G (p.Ala131Gly) n.667C>G | |
21 | g.37065667G= | CA2388296197 | PIGP | c.320C= (p.Ala107=) n.269C= c.242C= (p.Ala81=) c.392C= (p.Ala131=) n.667C= | |
21 | g.37065667G>T | CA10021034 | PIGP | c.320C>A (p.Ala107Asp) n.269C>A c.242C>A (p.Ala81Asp) c.392C>A (p.Ala131Asp) n.667C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.37065668C>A | CA409918420 | PIGP | c.319G>T (p.Ala107Ser) n.268G>T c.241G>T (p.Ala81Ser) c.391G>T (p.Ala131Ser) n.666G>T | |
21 | g.37065668C>G | CA409918419 | PIGP | c.319G>C (p.Ala107Pro) n.268G>C c.241G>C (p.Ala81Pro) c.391G>C (p.Ala131Pro) n.666G>C | |
21 | g.37065668C>T | CA409918418 | PIGP | c.319G>A (p.Ala107Thr) n.268G>A c.241G>A (p.Ala81Thr) c.391G>A (p.Ala131Thr) n.666G>A | gnomAD v4 |
21 | g.37065669C>A | CA409918421 | PIGP | c.318G>T (p.Glu106Asp) n.267G>T c.240G>T (p.Glu80Asp) c.390G>T (p.Glu130Asp) n.665G>T | |
21 | g.37065669C= | CA2388296199 | PIGP | c.318G= (p.Glu106=) n.267G= c.240G= (p.Glu80=) c.390G= (p.Glu130=) n.665G= | |
21 | g.37065669C>G | CA409918422 | PIGP | c.318G>C (p.Glu106Asp) n.267G>C c.240G>C (p.Glu80Asp) c.390G>C (p.Glu130Asp) n.665G>C | |
21 | g.37065669C>T | CA320402157 | PIGP | c.318G>A (p.Glu106=) n.267G>A c.240G>A (p.Glu80=) c.390G>A (p.Glu130=) n.665G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37065669_37065670delinsCT | CA2388296198 | PIGP | c.317_318delinsAG (p.Glu106=) n.266_267delinsAG c.239_240delinsAG (p.Glu80=) c.389_390delinsAG (p.Glu130=) n.664_665delinsAG | |
21 | g.37065670del | CA10021035 | PIGP | c.317del (p.Glu106GlyfsTer6) n.266del c.239del (p.Glu80GlyfsTer6) c.389del (p.Glu130GlyfsTer6) n.664del | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.37065670T>A | CA409918423 | PIGP | c.317A>T (p.Glu106Val) n.266A>T c.239A>T (p.Glu80Val) c.389A>T (p.Glu130Val) n.664A>T | |
21 | g.37065670T>C | CA409918424 | PIGP | c.317A>G (p.Glu106Gly) n.266A>G c.239A>G (p.Glu80Gly) c.389A>G (p.Glu130Gly) n.664A>G | |
21 | g.37065670T>G | CA409918425 | PIGP | c.317A>C (p.Glu106Ala) n.266A>C c.239A>C (p.Glu80Ala) c.389A>C (p.Glu130Ala) n.664A>C | |
21 | g.37065671C>A | CA409918428 | PIGP | c.316G>T (p.Glu106Ter) n.265G>T c.238G>T (p.Glu80Ter) c.388G>T (p.Glu130Ter) n.663G>T | |
21 | g.37065671C= | CA2388296200 | PIGP | c.316G= (p.Glu106=) n.265G= c.238G= (p.Glu80=) c.388G= (p.Glu130=) n.663G= | |
21 | g.37065671C>G | CA409918426 | PIGP | c.316G>C (p.Glu106Gln) n.265G>C c.238G>C (p.Glu80Gln) c.388G>C (p.Glu130Gln) n.663G>C | |
21 | g.37065671C>T | CA409918427 | PIGP | c.316G>A (p.Glu106Lys) n.265G>A c.238G>A (p.Glu80Lys) c.388G>A (p.Glu130Lys) n.663G>A | dbSNP |
21 | g.37065672C>A | CA409918429 | PIGP | c.315G>T (p.Glu105Asp) n.264G>T c.237G>T (p.Glu79Asp) c.387G>T (p.Glu129Asp) n.662G>T | |
21 | g.37065672C>G | CA409918430 | PIGP | c.315G>C (p.Glu105Asp) n.264G>C c.237G>C (p.Glu79Asp) c.387G>C (p.Glu129Asp) n.662G>C | |
21 | g.37065672C>T | CA512083164 | PIGP | c.315G>A (p.Glu105=) n.264G>A c.237G>A (p.Glu79=) c.387G>A (p.Glu129=) n.662G>A | |
21 | g.37065673T>A | CA409918431 | PIGP | c.314A>T (p.Glu105Val) n.263A>T c.236A>T (p.Glu79Val) c.386A>T (p.Glu129Val) n.661A>T | |
21 | g.37065673T>C | CA320402188 | PIGP | c.314A>G (p.Glu105Gly) n.263A>G c.236A>G (p.Glu79Gly) c.386A>G (p.Glu129Gly) n.661A>G | dbSNP gnomAD v4 |
21 | g.37065673T>G | CA409918432 | PIGP | c.314A>C (p.Glu105Ala) n.263A>C c.236A>C (p.Glu79Ala) c.386A>C (p.Glu129Ala) n.661A>C | |
21 | g.37065673T= | CA2388296201 | PIGP | c.314A= (p.Glu105=) n.263A= c.236A= (p.Glu79=) c.386A= (p.Glu129=) n.661A= | |
21 | g.37065674C>A | CA409918435 | PIGP | c.313G>T (p.Glu105Ter) n.262G>T c.235G>T (p.Glu79Ter) c.385G>T (p.Glu129Ter) n.660G>T | |
21 | g.37065674C= | CA2388296202 | PIGP | c.313G= (p.Glu105=) n.262G= c.235G= (p.Glu79=) c.385G= (p.Glu129=) n.660G= | |
21 | g.37065674C>G | CA409918433 | PIGP | c.313G>C (p.Glu105Gln) n.262G>C c.235G>C (p.Glu79Gln) c.385G>C (p.Glu129Gln) n.660G>C | dbSNP gnomAD v4 |
21 | g.37065674C>T | CA409918434 | PIGP | c.313G>A (p.Glu105Lys) n.262G>A c.235G>A (p.Glu79Lys) c.385G>A (p.Glu129Lys) n.660G>A | |
21 | g.37065675T>A | CA409918436 | PIGP | c.312A>T (p.Gln104His) n.261A>T c.234A>T (p.Gln78His) c.384A>T (p.Gln128His) n.659A>T | |
21 | g.37065675T>C | CA512083165 | PIGP | c.312A>G (p.Gln104=) n.261A>G c.234A>G (p.Gln78=) c.384A>G (p.Gln128=) n.659A>G | |
21 | g.37065675T>G | CA409918437 | PIGP | c.312A>C (p.Gln104His) n.261A>C c.234A>C (p.Gln78His) c.384A>C (p.Gln128His) n.659A>C | |
21 | g.37065676T>A | CA409918438 | PIGP | c.311A>T (p.Gln104Leu) n.260A>T c.233A>T (p.Gln78Leu) c.383A>T (p.Gln128Leu) n.658A>T | |
21 | g.37065676T>C | CA409918439 | PIGP | c.311A>G (p.Gln104Arg) n.260A>G c.233A>G (p.Gln78Arg) c.383A>G (p.Gln128Arg) n.658A>G | |
21 | g.37065676T>G | CA409918440 | PIGP | c.311A>C (p.Gln104Pro) n.260A>C c.233A>C (p.Gln78Pro) c.383A>C (p.Gln128Pro) n.658A>C | |
21 | g.37065677G>A | CA409918441 | PIGP | c.310C>T (p.Gln104Ter) n.259C>T c.232C>T (p.Gln78Ter) c.382C>T (p.Gln128Ter) n.657C>T | |
21 | g.37065677G>C | CA409918442 | PIGP | c.310C>G (p.Gln104Glu) n.259C>G c.232C>G (p.Gln78Glu) c.382C>G (p.Gln128Glu) n.657C>G | |
21 | g.37065677G>T | CA409918443 | PIGP | c.310C>A (p.Gln104Lys) n.259C>A c.232C>A (p.Gln78Lys) c.382C>A (p.Gln128Lys) n.657C>A | |
21 | g.37065678G>A | CA512083166 | PIGP | c.309C>T (p.Tyr103=) n.258C>T c.231C>T (p.Tyr77=) c.381C>T (p.Tyr127=) n.656C>T | ClinVar dbSNP |
21 | g.37065678G>C | CA409918444 | PIGP | c.309C>G (p.Tyr103Ter) n.258C>G c.231C>G (p.Tyr77Ter) c.381C>G (p.Tyr127Ter) n.656C>G | |
21 | g.37065678G>T | CA409918445 | PIGP | c.309C>A (p.Tyr103Ter) n.258C>A c.231C>A (p.Tyr77Ter) c.381C>A (p.Tyr127Ter) n.656C>A | |
21 | g.37065679T>A | CA409918446 | PIGP | c.308A>T (p.Tyr103Phe) n.257A>T c.230A>T (p.Tyr77Phe) c.380A>T (p.Tyr127Phe) n.655A>T | |
21 | g.37065679T>C | CA409918447 | PIGP | c.308A>G (p.Tyr103Cys) n.257A>G c.230A>G (p.Tyr77Cys) c.380A>G (p.Tyr127Cys) n.655A>G | |
21 | g.37065679T>G | CA409918448 | PIGP | c.308A>C (p.Tyr103Ser) n.257A>C c.230A>C (p.Tyr77Ser) c.380A>C (p.Tyr127Ser) n.655A>C | |
21 | g.37065679dup | CA2573157407 | PIGP | c.308dup (p.Tyr103Ter) n.257dup c.230dup (p.Tyr77Ter) c.380dup (p.Tyr127Ter) n.655dup | ClinVar dbSNP |
21 | g.37065680A= | CA2388296203 | PIGP | c.307T= (p.Tyr103=) n.256T= c.229T= (p.Tyr77=) c.379T= (p.Tyr127=) n.654T= | |
21 | g.37065680A>C | CA409918449 | PIGP | c.307T>G (p.Tyr103Asp) n.256T>G c.229T>G (p.Tyr77Asp) c.379T>G (p.Tyr127Asp) n.654T>G | |
21 | g.37065680A>G | CA10021036 | PIGP | c.307T>C (p.Tyr103His) n.256T>C c.229T>C (p.Tyr77His) c.379T>C (p.Tyr127His) n.654T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37065680A>T | CA409918450 | PIGP | c.307T>A (p.Tyr103Asn) n.256T>A c.229T>A (p.Tyr77Asn) c.379T>A (p.Tyr127Asn) n.654T>A | |
21 | g.37065681T>A | CA409918451 | PIGP | c.306A>T (p.Lys102Asn) n.255A>T c.228A>T (p.Lys76Asn) c.378A>T (p.Lys126Asn) n.653A>T | |
21 | g.37065681T>C | CA10021037 | PIGP | c.306A>G (p.Lys102=) n.255A>G c.228A>G (p.Lys76=) c.378A>G (p.Lys126=) n.653A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.37065681T>G | CA409918452 | PIGP | c.306A>C (p.Lys102Asn) n.255A>C c.228A>C (p.Lys76Asn) c.378A>C (p.Lys126Asn) n.653A>C | gnomAD v4 |
21 | g.37065681T= | CA2388296204 | PIGP | c.306A= (p.Lys102=) n.255A= c.228A= (p.Lys76=) c.378A= (p.Lys126=) n.653A= | |
21 | g.37065682T>A | CA409918453 | PIGP | c.305A>T (p.Lys102Ile) n.254A>T c.227A>T (p.Lys76Ile) c.377A>T (p.Lys126Ile) n.652A>T | |
21 | g.37065682T>C | CA409918454 | PIGP | c.305A>G (p.Lys102Arg) n.254A>G c.227A>G (p.Lys76Arg) c.377A>G (p.Lys126Arg) n.652A>G | gnomAD v4 |
21 | g.37065682T>G | CA409918455 | PIGP | c.305A>C (p.Lys102Thr) n.254A>C c.227A>C (p.Lys76Thr) c.377A>C (p.Lys126Thr) n.652A>C | |
21 | g.37065683T>A | CA409918457 | PIGP | c.304A>T (p.Lys102Ter) n.253A>T c.226A>T (p.Lys76Ter) c.376A>T (p.Lys126Ter) n.651A>T | |
21 | g.37065683T>C | CA409918459 | PIGP | c.304A>G (p.Lys102Glu) n.253A>G c.226A>G (p.Lys76Glu) c.376A>G (p.Lys126Glu) n.651A>G | |
21 | g.37065683T>G | CA409918461 | PIGP | c.304A>C (p.Lys102Gln) n.253A>C c.226A>C (p.Lys76Gln) c.376A>C (p.Lys126Gln) n.651A>C | |
21 | g.37065684C>A | CA409918464 | PIGP | c.303G>T (p.Lys101Asn) n.252G>T c.225G>T (p.Lys75Asn) c.375G>T (p.Lys125Asn) n.650G>T | |
21 | g.37065684C>G | CA409918466 | PIGP | c.303G>C (p.Lys101Asn) n.252G>C c.225G>C (p.Lys75Asn) c.375G>C (p.Lys125Asn) n.650G>C | |
21 | g.37065684C>T | CA512083167 | PIGP | c.303G>A (p.Lys101=) n.252G>A c.225G>A (p.Lys75=) c.375G>A (p.Lys125=) n.650G>A | |
21 | g.37065685T>A | CA409918472 | PIGP | c.302A>T (p.Lys101Met) n.251A>T c.224A>T (p.Lys75Met) c.374A>T (p.Lys125Met) n.649A>T | |
21 | g.37065685T>C | CA10021038 | PIGP | c.302A>G (p.Lys101Arg) n.251A>G c.224A>G (p.Lys75Arg) c.374A>G (p.Lys125Arg) n.649A>G | dbSNP ExAC gnomAD v4 |
21 | g.37065685T>G | CA409918468 | PIGP | c.302A>C (p.Lys101Thr) n.251A>C c.224A>C (p.Lys75Thr) c.374A>C (p.Lys125Thr) n.649A>C | |
21 | g.37065685T= | CA2388296205 | PIGP | c.302A= (p.Lys101=) n.251A= c.224A= (p.Lys75=) c.374A= (p.Lys125=) n.649A= | |
21 | g.37065686T>A | CA409918475 | PIGP | c.301A>T (p.Lys101Ter) n.250A>T c.223A>T (p.Lys75Ter) c.373A>T (p.Lys125Ter) n.648A>T | |
21 | g.37065686T>C | CA409918477 | PIGP | c.301A>G (p.Lys101Glu) n.250A>G c.223A>G (p.Lys75Glu) c.373A>G (p.Lys125Glu) n.648A>G | |
21 | g.37065686T>G | CA409918479 | PIGP | c.301A>C (p.Lys101Gln) n.250A>C c.223A>C (p.Lys75Gln) c.373A>C (p.Lys125Gln) n.648A>C | |
21 | g.37065687C>A | CA409918482 | PIGP | c.300G>T (p.Gln100His) n.249G>T c.222G>T (p.Gln74His) c.372G>T (p.Gln124His) n.647G>T | |
21 | g.37065687C= | CA2388296206 | PIGP | c.300G= (p.Gln100=) n.249G= c.222G= (p.Gln74=) c.372G= (p.Gln124=) n.647G= | |
21 | g.37065687C>G | CA409918483 | PIGP | c.300G>C (p.Gln100His) n.249G>C c.222G>C (p.Gln74His) c.372G>C (p.Gln124His) n.647G>C | dbSNP gnomAD v4 |
21 | g.37065687C>T | CA512083168 | PIGP | c.300G>A (p.Gln100=) n.249G>A c.222G>A (p.Gln74=) c.372G>A (p.Gln124=) n.647G>A | |
21 | g.37065688T>A | CA409918486 | PIGP | c.299A>T (p.Gln100Leu) n.248A>T c.221A>T (p.Gln74Leu) c.371A>T (p.Gln124Leu) n.646A>T | |
21 | g.37065688T>C | CA409918487 | PIGP | c.299A>G (p.Gln100Arg) n.248A>G c.221A>G (p.Gln74Arg) c.371A>G (p.Gln124Arg) n.646A>G | |
21 | g.37065688T>G | CA409918489 | PIGP | c.299A>C (p.Gln100Pro) n.248A>C c.221A>C (p.Gln74Pro) c.371A>C (p.Gln124Pro) n.646A>C | |
21 | g.37065689G>A | CA409918492 | PIGP | c.298C>T (p.Gln100Ter) n.247C>T c.220C>T (p.Gln74Ter) c.370C>T (p.Gln124Ter) n.645C>T | |
21 | g.37065689G>C | CA409918494 | PIGP | c.298C>G (p.Gln100Glu) n.247C>G c.220C>G (p.Gln74Glu) c.370C>G (p.Gln124Glu) n.645C>G | |
21 | g.37065689G>T | CA409918496 | PIGP | c.298C>A (p.Gln100Lys) n.247C>A c.220C>A (p.Gln74Lys) c.370C>A (p.Gln124Lys) n.645C>A | |
21 | g.37065690C>A | CA409918498 | PIGP | c.297G>T (p.Gln99His) n.246G>T c.219G>T (p.Gln73His) c.369G>T (p.Gln123His) n.644G>T | |
21 | g.37065690C>G | CA409918500 | PIGP | c.297G>C (p.Gln99His) n.246G>C c.219G>C (p.Gln73His) c.369G>C (p.Gln123His) n.644G>C | |
21 | g.37065690C>T | CA512083169 | PIGP | c.297G>A (p.Gln99=) n.246G>A c.219G>A (p.Gln73=) c.369G>A (p.Gln123=) n.644G>A | |
21 | g.37065691T>A | CA409918505 | PIGP | c.296A>T (p.Gln99Leu) n.245A>T c.218A>T (p.Gln73Leu) c.368A>T (p.Gln123Leu) n.643A>T | |
21 | g.37065691T>C | CA409918506 | PIGP | c.296A>G (p.Gln99Arg) n.245A>G c.218A>G (p.Gln73Arg) c.368A>G (p.Gln123Arg) n.643A>G | |
21 | g.37065691T>G | CA409918503 | PIGP | c.296A>C (p.Gln99Pro) n.245A>C c.218A>C (p.Gln73Pro) c.368A>C (p.Gln123Pro) n.643A>C | |
21 | g.37065692G>A | CA409918513 | PIGP | c.295C>T (p.Gln99Ter) n.244C>T c.217C>T (p.Gln73Ter) c.367C>T (p.Gln123Ter) n.642C>T | gnomAD v4 |
21 | g.37065692G>C | CA409918510 | PIGP | c.295C>G (p.Gln99Glu) n.244C>G c.217C>G (p.Gln73Glu) c.367C>G (p.Gln123Glu) n.642C>G | |
21 | g.37065692G>T | CA409918511 | PIGP | c.295C>A (p.Gln99Lys) n.244C>A c.217C>A (p.Gln73Lys) c.367C>A (p.Gln123Lys) n.642C>A | |
21 | g.37065693T>A | CA409918516 | PIGP | c.294A>T (p.Gln98His) n.243A>T c.216A>T (p.Gln72His) c.366A>T (p.Gln122His) n.641A>T | |
21 | g.37065693T>C | CA512083170 | PIGP | c.294A>G (p.Gln98=) n.243A>G c.216A>G (p.Gln72=) c.366A>G (p.Gln122=) n.641A>G | gnomAD v4 |
21 | g.37065693T>G | CA409918517 | PIGP | c.294A>C (p.Gln98His) n.243A>C c.216A>C (p.Gln72His) c.366A>C (p.Gln122His) n.641A>C | |
21 | g.37065694T>A | CA409918519 | PIGP | c.293A>T (p.Gln98Leu) n.242A>T c.215A>T (p.Gln72Leu) c.365A>T (p.Gln122Leu) n.640A>T | |
21 | g.37065694T>C | CA409918521 | PIGP | c.293A>G (p.Gln98Arg) n.242A>G c.215A>G (p.Gln72Arg) c.365A>G (p.Gln122Arg) n.640A>G | |
21 | g.37065694T>G | CA409918523 | PIGP | c.293A>C (p.Gln98Pro) n.242A>C c.215A>C (p.Gln72Pro) c.365A>C (p.Gln122Pro) n.640A>C | |
21 | g.37065695G>A | CA10021039 | PIGP | c.292C>T (p.Gln98Ter) n.241C>T c.214C>T (p.Gln72Ter) c.364C>T (p.Gln122Ter) n.639C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.37065695G>C | CA409918526 | PIGP | c.292C>G (p.Gln98Glu) n.241C>G c.214C>G (p.Gln72Glu) c.364C>G (p.Gln122Glu) n.639C>G | dbSNP |
21 | g.37065695G= | CA2388296207 | PIGP | c.292C= (p.Gln98=) n.241C= c.214C= (p.Gln72=) c.364C= (p.Gln122=) n.639C= | |
21 | g.37065695G>T | CA409918527 | PIGP | c.292C>A (p.Gln98Lys) n.241C>A c.214C>A (p.Gln72Lys) c.364C>A (p.Gln122Lys) n.639C>A | |
21 | g.37065696A= | CA2388296209 | PIGP | c.291T= (p.Asn97=) n.240T= c.213T= (p.Asn71=) c.363T= (p.Asn121=) n.638T= | |
21 | g.37065696A>C | CA409918530 | PIGP | c.291T>G (p.Asn97Lys) n.240T>G c.213T>G (p.Asn71Lys) c.363T>G (p.Asn121Lys) n.638T>G | |
21 | g.37065696A>G | CA10021041 | PIGP | c.291T>C (p.Asn97=) n.240T>C c.213T>C (p.Asn71=) c.363T>C (p.Asn121=) n.638T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37065696A>T | CA409918533 | PIGP | c.291T>A (p.Asn97Lys) n.240T>A c.213T>A (p.Asn71Lys) c.363T>A (p.Asn121Lys) n.638T>A | COSMIC |
21 | g.37065696_37065697delinsAT | CA2388296208 | PIGP | c.290_291delinsAT (p.Asn97=) n.239_240delinsAT c.212_213delinsAT (p.Asn71=) c.362_363delinsAT (p.Asn121=) n.637_638delinsAT | |
21 | g.37065697T>A | CA409918541 | PIGP | c.290A>T (p.Asn97Ile) n.239A>T c.212A>T (p.Asn71Ile) c.362A>T (p.Asn121Ile) n.637A>T | |
21 | g.37065697T>C | CA409918539 | PIGP | c.290A>G (p.Asn97Ser) n.239A>G c.212A>G (p.Asn71Ser) c.362A>G (p.Asn121Ser) n.637A>G | gnomAD v4 |
21 | g.37065697T>G | CA409918537 | PIGP | c.290A>C (p.Asn97Thr) n.239A>C c.212A>C (p.Asn71Thr) c.362A>C (p.Asn121Thr) n.637A>C | |
21 | g.37065702dup | CA637791422 | PIGP | c.290dup (p.Asn97LysfsTer21) n.239dup c.212dup (p.Asn71LysfsTer21) c.362dup (p.Asn121LysfsTer21) n.637dup | dbSNP gnomAD v2 gnomAD v4 |
21 | g.37065702del | CA10021040 | PIGP | c.290del (p.Asn97IlefsTer15) n.239del c.212del (p.Asn71IlefsTer15) c.362del (p.Asn121IlefsTer15) n.637del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.37065698T>A | CA409918543 | PIGP | c.289A>T (p.Asn97Tyr) n.238A>T c.211A>T (p.Asn71Tyr) c.361A>T (p.Asn121Tyr) n.636A>T | |
21 | g.37065698T>C | CA409918544 | PIGP | c.289A>G (p.Asn97Asp) n.238A>G c.211A>G (p.Asn71Asp) c.361A>G (p.Asn121Asp) n.636A>G | |
21 | g.37065698T>G | CA409918547 | PIGP | c.289A>C (p.Asn97His) n.238A>C c.211A>C (p.Asn71His) c.361A>C (p.Asn121His) n.636A>C | dbSNP gnomAD v2 gnomAD v4 |
21 | g.37065698T= | CA2388296210 | PIGP | c.289A= (p.Asn97=) n.238A= c.211A= (p.Asn71=) c.361A= (p.Asn121=) n.636A= | |
21 | g.37065699T>A | CA409918549 | PIGP | c.288A>T (p.Lys96Asn) n.237A>T c.210A>T (p.Lys70Asn) c.360A>T (p.Lys120Asn) n.635A>T | |
21 | g.37065699T>C | CA512083171 | PIGP | c.288A>G (p.Lys96=) n.237A>G c.210A>G (p.Lys70=) c.360A>G (p.Lys120=) n.635A>G | gnomAD v4 |
21 | g.37065699T>G | CA409918551 | PIGP | c.288A>C (p.Lys96Asn) n.237A>C c.210A>C (p.Lys70Asn) c.360A>C (p.Lys120Asn) n.635A>C | |
21 | g.37065700T>A | CA409918553 | PIGP | c.287A>T (p.Lys96Ile) n.236A>T c.209A>T (p.Lys70Ile) c.359A>T (p.Lys120Ile) n.634A>T | |
21 | g.37065700T>C | CA409918555 | PIGP | c.287A>G (p.Lys96Arg) n.236A>G c.209A>G (p.Lys70Arg) c.359A>G (p.Lys120Arg) n.634A>G | |
21 | g.37065700T>G | CA409918556 | PIGP | c.287A>C (p.Lys96Thr) n.236A>C c.209A>C (p.Lys70Thr) c.359A>C (p.Lys120Thr) n.634A>C | COSMIC |
21 | g.37065701T>A | CA409918558 | PIGP | c.286A>T (p.Lys96Ter) n.235A>T c.208A>T (p.Lys70Ter) c.358A>T (p.Lys120Ter) n.633A>T | |
21 | g.37065701T>C | CA10021042 | PIGP | c.286A>G (p.Lys96Glu) n.235A>G c.208A>G (p.Lys70Glu) c.358A>G (p.Lys120Glu) n.633A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.37065701T>G | CA409918559 | PIGP | c.286A>C (p.Lys96Gln) n.235A>C c.208A>C (p.Lys70Gln) c.358A>C (p.Lys120Gln) n.633A>C | |
21 | g.37065701T= | CA2388296211 | PIGP | c.286A= (p.Lys96=) n.235A= c.208A= (p.Lys70=) c.358A= (p.Lys120=) n.633A= | |
21 | g.37065702T>A | CA512083175 | PIGP | c.285A>T (p.Ala95=) n.234A>T c.207A>T (p.Ala69=) c.357A>T (p.Ala119=) n.632A>T | |
21 | g.37065702T>C | CA512083176 | PIGP | c.285A>G (p.Ala95=) n.234A>G c.207A>G (p.Ala69=) c.357A>G (p.Ala119=) n.632A>G | |
21 | g.37065702T>G | CA512083177 | PIGP | c.285A>C (p.Ala95=) n.234A>C c.207A>C (p.Ala69=) c.357A>C (p.Ala119=) n.632A>C | |
21 | g.37065703G>A | CA409918560 | PIGP | c.284C>T (p.Ala95Val) n.233C>T c.206C>T (p.Ala69Val) c.356C>T (p.Ala119Val) n.631C>T | |
21 | g.37065703G>C | CA10021044 | PIGP | c.284C>G (p.Ala95Gly) n.233C>G c.206C>G (p.Ala69Gly) c.356C>G (p.Ala119Gly) n.631C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37065703G= | CA2388296212 | PIGP | c.284C= (p.Ala95=) n.233C= c.206C= (p.Ala69=) c.356C= (p.Ala119=) n.631C= | |
21 | g.37065703G>T | CA10021043 | PIGP | c.284C>A (p.Ala95Glu) n.233C>A c.206C>A (p.Ala69Glu) c.356C>A (p.Ala119Glu) n.631C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37065704C>A | CA409918562 | PIGP | c.283G>T (p.Ala95Ser) n.232G>T c.205G>T (p.Ala69Ser) c.355G>T (p.Ala119Ser) n.630G>T | |
21 | g.37065704C= | CA2388296213 | PIGP | c.283G= (p.Ala95=) n.232G= c.205G= (p.Ala69=) c.355G= (p.Ala119=) n.630G= | |
21 | g.37065704C>G | CA409918564 | PIGP | c.283G>C (p.Ala95Pro) n.232G>C c.205G>C (p.Ala69Pro) c.355G>C (p.Ala119Pro) n.630G>C | COSMIC |
21 | g.37065704C>T | CA10021045 | PIGP | c.283G>A (p.Ala95Thr) n.232G>A c.205G>A (p.Ala69Thr) c.355G>A (p.Ala119Thr) n.630G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.37065704_37065706delinsCAT | CA2388296214 | PIGP | c.281_283delinsATG (p.Tyr94=) n.230_232delinsATG c.203_205delinsATG (p.Tyr68=) c.353_355delinsATG (p.Tyr118=) n.628_630delinsATG | |
21 | g.37065705A= | CA2388296215 | PIGP | c.282T= (p.Tyr94=) n.231T= c.204T= (p.Tyr68=) c.354T= (p.Tyr118=) n.629T= | |
21 | g.37065705A>C | CA409918567 | PIGP | c.282T>G (p.Tyr94Ter) n.231T>G c.204T>G (p.Tyr68Ter) c.354T>G (p.Tyr118Ter) n.629T>G | |
21 | g.37065705A>G | CA512083180 | PIGP | c.282T>C (p.Tyr94=) n.231T>C c.204T>C (p.Tyr68=) c.354T>C (p.Tyr118=) n.629T>C | ClinVar dbSNP gnomAD v4 |
21 | g.37065705A>T | CA409918569 | PIGP | c.282T>A (p.Tyr94Ter) n.231T>A c.204T>A (p.Tyr68Ter) c.354T>A (p.Tyr118Ter) n.629T>A | |
21 | g.37065706_37065707del | CA637791431 | PIGP | c.281_282del (p.Tyr94CysfsTer23) n.230_231del c.203_204del (p.Tyr68CysfsTer23) c.353_354del (p.Tyr118CysfsTer23) n.628_629del | dbSNP gnomAD v2 gnomAD v4 |