| 5 | g.140114764_140114783del | CA2580072967 | PURA | c.583_602del (p.Leu195SerfsTer?)
| ClinVar |
| 5 | g.140114783C>A | CA361491125 | PURA | c.602C>A (p.Ala201Asp)
| gnomAD v4 |
| 5 | g.140114783C>G | CA361491126 | PURA | c.602C>G (p.Ala201Gly)
| |
| 5 | g.140114783C>T | CA361491127 | PURA | c.602C>T (p.Ala201Val)
| |
| 5 | g.140114784T>A | CA446831080 | PURA | c.603T>A (p.Ala201=)
| |
| 5 | g.140114784T>C | CA446831079 | PURA | c.603T>C (p.Ala201=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114784T>G | CA446831078 | PURA | c.603T>G (p.Ala201=)
| ClinVar dbSNP |
| 5 | g.140114784T= | CA1586595302 | PURA | c.603T= (p.Ala201=)
| |
| 5 | g.140114785C>A | CA361491128 | PURA | c.604C>A (p.Leu202Met)
| |
| 5 | g.140114785C= | CA1586595307 | PURA | c.604C= (p.Leu202=)
| |
| 5 | g.140114785C>G | CA361491129 | PURA | c.604C>G (p.Leu202Val)
| |
| 5 | g.140114785C>T | CA3437485 | PURA | c.604C>T (p.Leu202=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114786T>A | CA361491130 | PURA | c.605T>A (p.Leu202Gln)
| |
| 5 | g.140114786T>C | CA361491131 | PURA | c.605T>C (p.Leu202Pro)
| ClinVar dbSNP |
| 5 | g.140114786T>G | CA361491132 | PURA | c.605T>G (p.Leu202Arg)
| |
| 5 | g.140114786T= | CA1586595318 | PURA | c.605T= (p.Leu202=)
| |
| 5 | g.140114787G>A | CA446831081 | PURA | c.606G>A (p.Leu202=)
| gnomAD v4 |
| 5 | g.140114787G>C | CA446831082 | PURA | c.606G>C (p.Leu202=)
| |
| 5 | g.140114787G>T | CA446831083 | PURA | c.606G>T (p.Leu202=)
| |
| 5 | g.140114788G>A | CA361491133 | PURA | c.607G>A (p.Ala203Thr)
| |
| 5 | g.140114788G>C | CA361491134 | PURA | c.607G>C (p.Ala203Pro)
| |
| 5 | g.140114788G>T | CA361491135 | PURA | c.607G>T (p.Ala203Ser)
| |
| 5 | g.140114789C>A | CA361491136 | PURA | c.608C>A (p.Ala203Asp)
| |
| 5 | g.140114789C>G | CA361491137 | PURA | c.608C>G (p.Ala203Gly)
| |
| 5 | g.140114789C>T | CA361491138 | PURA | c.608C>T (p.Ala203Val)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.140114790C>A | CA446831085 | PURA | c.609C>A (p.Ala203=)
| |
| 5 | g.140114790C>G | CA446831088 | PURA | c.609C>G (p.Ala203=)
| gnomAD v4 |
| 5 | g.140114790C>T | CA446831086 | PURA | c.609C>T (p.Ala203=)
| gnomAD v4 |
| 5 | g.140114791A>C | CA361491139 | PURA | c.610A>C (p.Lys204Gln)
| |
| 5 | g.140114791A>G | CA361491140 | PURA | c.610A>G (p.Lys204Glu)
| |
| 5 | g.140114791A>T | CA361491141 | PURA | c.610A>T (p.Lys204Ter)
| |
| 5 | g.140114792A= | CA1586595322 | PURA | c.611A= (p.Lys204=)
| |
| 5 | g.140114792A>C | CA361491144 | PURA | c.611A>C (p.Lys204Thr)
| dbSNP |
| 5 | g.140114792A>G | CA361491142 | PURA | c.611A>G (p.Lys204Arg)
| |
| 5 | g.140114792A>T | CA361491143 | PURA | c.611A>T (p.Lys204Met)
| dbSNP |
| 5 | g.140114793G>A | CA446831092 | PURA | c.612G>A (p.Lys204=)
| |
| 5 | g.140114793G>C | CA361491145 | PURA | c.612G>C (p.Lys204Asn)
| |
| 5 | g.140114793G>T | CA361491146 | PURA | c.612G>T (p.Lys204Asn)
| |
| 5 | g.140114794C>A | CA361491147 | PURA | c.613C>A (p.Leu205Ile)
| |
| 5 | g.140114794C>G | CA361491148 | PURA | c.613C>G (p.Leu205Val)
| |
| 5 | g.140114794C>T | CA361491149 | PURA | c.613C>T (p.Leu205Phe)
| |
| 5 | g.140114794_140114797delinsCTCA | CA1586595325 | PURA | c.613_616delinsCTCA (p.Leu205=)
| |
| 5 | g.140114795T>A | CA361491150 | PURA | c.614T>A (p.Leu205His)
| |
| 5 | g.140114795T>C | CA361491151 | PURA | c.614T>C (p.Leu205Pro)
| ClinVar dbSNP |
| 5 | g.140114795T>G | CA361491152 | PURA | c.614T>G (p.Leu205Arg)
| |
| 5 | g.140114795T= | CA1586595336 | PURA | c.614T= (p.Leu205=)
| |
| 5 | g.140114797_140114799del | CA16618128 | PURA | c.616_618del (p.Ile206del)
| ClinVar dbSNP |
| 5 | g.140114796C>A | CA446831096 | PURA | c.615C>A (p.Leu205=)
| |
| 5 | g.140114796C= | CA1586595347 | PURA | c.615C= (p.Leu205=)
| |
| 5 | g.140114796C>G | CA446831098 | PURA | c.615C>G (p.Leu205=)
| |
| 5 | g.140114796C>T | CA446831099 | PURA | c.615C>T (p.Leu205=)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.140114797A= | CA1586595352 | PURA | c.616A= (p.Ile206=)
| |
| 5 | g.140114797A>C | CA361491153 | PURA | c.616A>C (p.Ile206Leu)
| |
| 5 | g.140114797A>G | CA361491154 | PURA | c.616A>G (p.Ile206Val)
| |
| 5 | g.140114797A>T | CA199216 | PURA | c.616A>T (p.Ile206Phe)
| ClinVar dbSNP |
| 5 | g.140114798T>A | CA361491157 | PURA | c.617T>A (p.Ile206Asn)
| |
| 5 | g.140114798T>C | CA361491156 | PURA | c.617T>C (p.Ile206Thr)
| |
| 5 | g.140114798T>G | CA361491155 | PURA | c.617T>G (p.Ile206Ser)
| |
| 5 | g.140114799C>A | CA3437487 | PURA | c.618C>A (p.Ile206=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114799C= | CA1586595363 | PURA | c.618C= (p.Ile206=)
| |
| 5 | g.140114799C>G | CA361491158 | PURA | c.618C>G (p.Ile206Met)
| dbSNP |
| 5 | g.140114799C>T | CA3437486 | PURA | c.618C>T (p.Ile206=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114799_140114806delinsCGACGACT | CA1586595371 | PURA | c.618_625delinsCGACGACT (p.Ile206=)
| |
| 5 | g.140114800G>A | CA361491159 | PURA | c.619G>A (p.Asp207Asn)
| gnomAD v4 |
| 5 | g.140114800G>C | CA361491160 | PURA | c.619G>C (p.Asp207His)
| |
| 5 | g.140114800G>T | CA361491161 | PURA | c.619G>T (p.Asp207Tyr)
| |
| 5 | g.140114800_140114806del | CA891843401 | PURA | c.619_625del (p.Asp207ThrfsTer16)
| ClinVar dbSNP |
| 5 | g.140114801A>C | CA361491162 | PURA | c.620A>C (p.Asp207Ala)
| |
| 5 | g.140114801A>G | CA361491163 | PURA | c.620A>G (p.Asp207Gly)
| |
| 5 | g.140114801A>T | CA361491164 | PURA | c.620A>T (p.Asp207Val)
| |
| 5 | g.140114802C>A | CA361491165 | PURA | c.621C>A (p.Asp207Glu)
| |
| 5 | g.140114802C= | CA1586595387 | PURA | c.621C= (p.Asp207=)
| |
| 5 | g.140114802C>G | CA361491166 | PURA | c.621C>G (p.Asp207Glu)
| |
| 5 | g.140114802C>T | CA3437488 | PURA | c.621C>T (p.Asp207=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114803G>A | CA361491167 | PURA | c.622G>A (p.Asp208Asn)
| COSMIC |
| 5 | g.140114803G>C | CA361491168 | PURA | c.622G>C (p.Asp208His)
| |
| 5 | g.140114803G>T | CA361491169 | PURA | c.622G>T (p.Asp208Tyr)
| |
| 5 | g.140114804A>C | CA361491172 | PURA | c.623A>C (p.Asp208Ala)
| |
| 5 | g.140114804A>G | CA361491170 | PURA | c.623A>G (p.Asp208Gly)
| |
| 5 | g.140114804A>T | CA361491171 | PURA | c.623A>T (p.Asp208Val)
| |
| 5 | g.140114805C>A | CA361491173 | PURA | c.624C>A (p.Asp208Glu)
| |
| 5 | g.140114805C>G | CA361491174 | PURA | c.624C>G (p.Asp208Glu)
| |
| 5 | g.140114805C>T | CA446831110 | PURA | c.624C>T (p.Asp208=)
| |
| 5 | g.140114806T>A | CA361491175 | PURA | c.625T>A (p.Tyr209Asn)
| |
| 5 | g.140114806T>C | CA361491176 | PURA | c.625T>C (p.Tyr209His)
| |
| 5 | g.140114806T>G | CA361491177 | PURA | c.625T>G (p.Tyr209Asp)
| ClinVar |
| 5 | g.140114807A= | CA1586595389 | PURA | c.626A= (p.Tyr209=)
| |
| 5 | g.140114807A>C | CA361491178 | PURA | c.626A>C (p.Tyr209Ser)
| |
| 5 | g.140114807A>G | CA361491179 | PURA | c.626A>G (p.Tyr209Cys)
| |
| 5 | g.140114807A>T | CA361491180 | PURA | c.626A>T (p.Tyr209Phe)
| ClinVar dbSNP |
| 5 | g.140114808C>A | CA361491181 | PURA | c.627C>A (p.Tyr209Ter)
| |
| 5 | g.140114808C= | CA1586595393 | PURA | c.627C= (p.Tyr209=)
| |
| 5 | g.140114808C>G | CA361491182 | PURA | c.627C>G (p.Tyr209Ter)
| ClinVar |
| 5 | g.140114808C>T | CA3437489 | PURA | c.627C>T (p.Tyr209=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.140114809G>A | CA361491185 | PURA | c.628G>A (p.Gly210Arg)
| dbSNP gnomAD v4 |
| 5 | g.140114809G>C | CA361491184 | PURA | c.628G>C (p.Gly210Arg)
| |
| 5 | g.140114809G= | CA1586595398 | PURA | c.628G= (p.Gly210=)
| |
| 5 | g.140114809G>T | CA361491183 | PURA | c.628G>T (p.Gly210Ter)
| |
| 5 | g.140114810del | CA2573139228 | PURA | c.629del (p.Gly210GlufsTer15)
| ClinVar dbSNP |
| 5 | g.140114810G>A | CA361491186 | PURA | c.629G>A (p.Gly210Glu)
| |
| 5 | g.140114810G>C | CA361491187 | PURA | c.629G>C (p.Gly210Ala)
| |
| 5 | g.140114810G>T | CA361491188 | PURA | c.629G>T (p.Gly210Val)
| |
| 5 | g.140114811A= | CA1586595405 | PURA | c.630A= (p.Gly210=)
| |
| 5 | g.140114811A>C | CA128789416 | PURA | c.630A>C (p.Gly210=)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.140114811A>G | CA446831120 | PURA | c.630A>G (p.Gly210=)
| |
| 5 | g.140114811A>T | CA446831119 | PURA | c.630A>T (p.Gly210=)
| |
| 5 | g.140114812G>A | CA361491189 | PURA | c.631G>A (p.Val211Met)
| gnomAD v4 |
| 5 | g.140114812G>C | CA361491190 | PURA | c.631G>C (p.Val211Leu)
| |
| 5 | g.140114812G>T | CA361491191 | PURA | c.631G>T (p.Val211Leu)
| |
| 5 | g.140114813T>A | CA361491192 | PURA | c.632T>A (p.Val211Glu)
| |
| 5 | g.140114813T>C | CA361491193 | PURA | c.632T>C (p.Val211Ala)
| |
| 5 | g.140114813T>G | CA361491194 | PURA | c.632T>G (p.Val211Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.140114813T= | CA1586595417 | PURA | c.632T= (p.Val211=)
| |
| 5 | g.140114814G>A | CA446831128 | PURA | c.633G>A (p.Val211=)
| |
| 5 | g.140114814G>C | CA446831126 | PURA | c.633G>C (p.Val211=)
| |
| 5 | g.140114814G>T | CA446831125 | PURA | c.633G>T (p.Val211=)
| |
| 5 | g.140114815G>A | CA361491195 | PURA | c.634G>A (p.Glu212Lys)
| gnomAD v4 |
| 5 | g.140114815G>C | CA361491196 | PURA | c.634G>C (p.Glu212Gln)
| ClinVar dbSNP COSMIC |
| 5 | g.140114815G= | CA1586595427 | PURA | c.634G= (p.Glu212=)
| |
| 5 | g.140114815G>T | CA361491197 | PURA | c.634G>T (p.Glu212Ter)
| |
| 5 | g.140114816A>C | CA361491200 | PURA | c.635A>C (p.Glu212Ala)
| |
| 5 | g.140114816A>G | CA361491199 | PURA | c.635A>G (p.Glu212Gly)
| |
| 5 | g.140114816A>T | CA361491198 | PURA | c.635A>T (p.Glu212Val)
| |
| 5 | g.140114817G>A | CA446831129 | PURA | c.636G>A (p.Glu212=)
| |
| 5 | g.140114817G>C | CA361491201 | PURA | c.636G>C (p.Glu212Asp)
| |
| 5 | g.140114817G>T | CA361491202 | PURA | c.636G>T (p.Glu212Asp)
| |
| 5 | g.140114818G>A | CA361491203 | PURA | c.637G>A (p.Glu213Lys)
| |
| 5 | g.140114818G>C | CA361491204 | PURA | c.637G>C (p.Glu213Gln)
| |
| 5 | g.140114818G>T | CA361491205 | PURA | c.637G>T (p.Glu213Ter)
| |
| 5 | g.140114819A= | CA1586595443 | PURA | c.638A= (p.Glu213=)
| |
| 5 | g.140114819A>C | CA361491206 | PURA | c.638A>C (p.Glu213Ala)
| COSMIC |
| 5 | g.140114819A>G | CA361491207 | PURA | c.638A>G (p.Glu213Gly)
| |
| 5 | g.140114819A>T | CA361491208 | PURA | c.638A>T (p.Glu213Val)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.140114820G>A | CA446831134 | PURA | c.639G>A (p.Glu213=)
| |
| 5 | g.140114820G>C | CA361491209 | PURA | c.639G>C (p.Glu213Asp)
| |
| 5 | g.140114820G= | CA1586595450 | PURA | c.639G= (p.Glu213=)
| |
| 5 | g.140114820G>T | CA361491210 | PURA | c.639G>T (p.Glu213Asp)
| |
| 5 | g.140114821G>A | CA361491211 | PURA | c.640G>A (p.Glu214Lys)
| |
| 5 | g.140114821G>C | CA361491212 | PURA | c.640G>C (p.Glu214Gln)
| dbSNP gnomAD v4 |
| 5 | g.140114821G= | CA1586595463 | PURA | c.640G= (p.Glu214=)
| |
| 5 | g.140114821G>T | CA361491213 | PURA | c.640G>T (p.Glu214Ter)
| ClinVar dbSNP |
| 5 | g.140114822_140114826dup | CA1139659104 | PURA | c.641_645dup (p.Ala216SerfsTer11)
| ClinVar dbSNP |
| 5 | g.140114822A>C | CA361491215 | PURA | c.641A>C (p.Glu214Ala)
| |
| 5 | g.140114822A>G | CA361491216 | PURA | c.641A>G (p.Glu214Gly)
| |
| 5 | g.140114822A>T | CA361491214 | PURA | c.641A>T (p.Glu214Val)
| |
| 5 | g.140114823G>A | CA446831136 | PURA | c.642G>A (p.Glu214=)
| |
| 5 | g.140114823G>C | CA361491217 | PURA | c.642G>C (p.Glu214Asp)
| |
| 5 | g.140114823G>T | CA361491218 | PURA | c.642G>T (p.Glu214Asp)
| |
| 5 | g.140114824C>A | CA361491219 | PURA | c.643C>A (p.Pro215Thr)
| |
| 5 | g.140114824C= | CA1586595470 | PURA | c.643C= (p.Pro215=)
| |
| 5 | g.140114824C>G | CA361491221 | PURA | c.643C>G (p.Pro215Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114824C>T | CA361491220 | PURA | c.643C>T (p.Pro215Ser)
| |
| 5 | g.140114825C>A | CA361491222 | PURA | c.644C>A (p.Pro215Gln)
| gnomAD v4 |
| 5 | g.140114825C>G | CA361491224 | PURA | c.644C>G (p.Pro215Arg)
| |
| 5 | g.140114825C>T | CA361491223 | PURA | c.644C>T (p.Pro215Leu)
| |
| 5 | g.140114826G>A | CA128789417 | PURA | c.645G>A (p.Pro215=)
| dbSNP |
| 5 | g.140114826G>C | CA446831138 | PURA | c.645G>C (p.Pro215=)
| gnomAD v4 |
| 5 | g.140114826G= | CA1586595477 | PURA | c.645G= (p.Pro215=)
| |
| 5 | g.140114826G>T | CA446831139 | PURA | c.645G>T (p.Pro215=)
| gnomAD v4 |
| 5 | g.140114827G>A | CA361491225 | PURA | c.646G>A (p.Ala216Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114827G>C | CA361491227 | PURA | c.646G>C (p.Ala216Pro)
| |
| 5 | g.140114827G= | CA1586595482 | PURA | c.646G= (p.Ala216=)
| |
| 5 | g.140114827G>T | CA361491226 | PURA | c.646G>T (p.Ala216Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114828_140114841del | CA2499217693 | PURA | c.647_660del (p.Ala216GlyfsTer?)
| ClinVar dbSNP |
| 5 | g.140114828C>A | CA361491228 | PURA | c.647C>A (p.Ala216Asp)
| |
| 5 | g.140114828C>G | CA361491230 | PURA | c.647C>G (p.Ala216Gly)
| |
| 5 | g.140114828C>T | CA361491229 | PURA | c.647C>T (p.Ala216Val)
| |
| 5 | g.140114829C>A | CA446831143 | PURA | c.648C>A (p.Ala216=)
| |
| 5 | g.140114829C= | CA1586595495 | PURA | c.648C= (p.Ala216=)
| |
| 5 | g.140114829C>G | CA446831144 | PURA | c.648C>G (p.Ala216=)
| dbSNP gnomAD v4 |
| 5 | g.140114829C>T | CA3437490 | PURA | c.648C>T (p.Ala216=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114830G>A | CA361491231 | PURA | c.649G>A (p.Glu217Lys)
| gnomAD v4 |
| 5 | g.140114830G>C | CA361491232 | PURA | c.649G>C (p.Glu217Gln)
| |
| 5 | g.140114830G>T | CA361491233 | PURA | c.649G>T (p.Glu217Ter)
| |
| 5 | g.140114831A>C | CA361491234 | PURA | c.650A>C (p.Glu217Ala)
| COSMIC |
| 5 | g.140114831A>G | CA361491235 | PURA | c.650A>G (p.Glu217Gly)
| |
| 5 | g.140114831A>T | CA361491236 | PURA | c.650A>T (p.Glu217Val)
| |
| 5 | g.140114832G>A | CA446831147 | PURA | c.651G>A (p.Glu217=)
| |
| 5 | g.140114832G>C | CA361491237 | PURA | c.651G>C (p.Glu217Asp)
| |
| 5 | g.140114832G>T | CA361491238 | PURA | c.651G>T (p.Glu217Asp)
| ClinVar gnomAD v4 |
| 5 | g.140114833C>A | CA361491239 | PURA | c.652C>A (p.Leu218Met)
| |
| 5 | g.140114833C>G | CA361491240 | PURA | c.652C>G (p.Leu218Val)
| |
| 5 | g.140114833C>T | CA446831149 | PURA | c.652C>T (p.Leu218=)
| |
| 5 | g.140114834T>A | CA361491243 | PURA | c.653T>A (p.Leu218Gln)
| dbSNP |
| 5 | g.140114834T>C | CA361491242 | PURA | c.653T>C (p.Leu218Pro)
| |
| 5 | g.140114834T>G | CA361491241 | PURA | c.653T>G (p.Leu218Arg)
| |
| 5 | g.140114834T= | CA1586595499 | PURA | c.653T= (p.Leu218=)
| |
| 5 | g.140114835G>A | CA446831150 | PURA | c.654G>A (p.Leu218=)
| |
| 5 | g.140114835G>C | CA446831151 | PURA | c.654G>C (p.Leu218=)
| |
| 5 | g.140114835G= | CA1586595504 | PURA | c.654G= (p.Leu218=)
| |
| 5 | g.140114835G>T | CA128789418 | PURA | c.654G>T (p.Leu218=)
| ClinVar dbSNP |
| 5 | g.140114836C>A | CA361491244 | PURA | c.655C>A (p.Pro219Thr)
| |
| 5 | g.140114836C>G | CA361491245 | PURA | c.655C>G (p.Pro219Ala)
| |
| 5 | g.140114836C>T | CA361491246 | PURA | c.655C>T (p.Pro219Ser)
| |
| 5 | g.140114838del | CA2580072972 | PURA | c.657del (p.Glu220ArgfsTer5)
| ClinVar |
| 5 | g.140114837C>A | CA361491247 | PURA | c.656C>A (p.Pro219His)
| |
| 5 | g.140114837C>G | CA361491248 | PURA | c.656C>G (p.Pro219Arg)
| |
| 5 | g.140114837C>T | CA361491249 | PURA | c.656C>T (p.Pro219Leu)
| |
| 5 | g.140114838C>A | CA446831154 | PURA | c.657C>A (p.Pro219=)
| gnomAD v4 |
| 5 | g.140114838C= | CA1586595510 | PURA | c.657C= (p.Pro219=)
| |
| 5 | g.140114838C>G | CA446831155 | PURA | c.657C>G (p.Pro219=)
| gnomAD v4 |
| 5 | g.140114838C>T | CA446831156 | PURA | c.657C>T (p.Pro219=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114839G>A | CA361491250 | PURA | c.658G>A (p.Glu220Lys)
| ClinVar |
| 5 | g.140114839G>C | CA361491251 | PURA | c.658G>C (p.Glu220Gln)
| gnomAD v4 |
| 5 | g.140114839G>T | CA361491252 | PURA | c.658G>T (p.Glu220Ter)
| |
| 5 | g.140114840A>C | CA361491253 | PURA | c.659A>C (p.Glu220Ala)
| |
| 5 | g.140114840A>G | CA361491254 | PURA | c.659A>G (p.Glu220Gly)
| |
| 5 | g.140114840A>T | CA361491255 | PURA | c.659A>T (p.Glu220Val)
| |
| 5 | g.140114841G>A | CA446831158 | PURA | c.660G>A (p.Glu220=)
| |
| 5 | g.140114841G>C | CA361491256 | PURA | c.660G>C (p.Glu220Asp)
| gnomAD v4 |
| 5 | g.140114841G>T | CA361491257 | PURA | c.660G>T (p.Glu220Asp)
| |
| 5 | g.140114842G>A | CA361491258 | PURA | c.661G>A (p.Gly221Ser)
| |
| 5 | g.140114842G>C | CA361491259 | PURA | c.661G>C (p.Gly221Arg)
| |
| 5 | g.140114842G>T | CA361491260 | PURA | c.661G>T (p.Gly221Cys)
| |
| 5 | g.140114843G>A | CA361491261 | PURA | c.662G>A (p.Gly221Asp)
| |
| 5 | g.140114843G>C | CA361491262 | PURA | c.662G>C (p.Gly221Ala)
| |
| 5 | g.140114843G>T | CA361491263 | PURA | c.662G>T (p.Gly221Val)
| |
| 5 | g.140114844C>A | CA446831160 | PURA | c.663C>A (p.Gly221=)
| |
| 5 | g.140114844C= | CA1586595517 | PURA | c.663C= (p.Gly221=)
| |
| 5 | g.140114844C>G | CA446831161 | PURA | c.663C>G (p.Gly221=)
| |
| 5 | g.140114844C>T | CA446831162 | PURA | c.663C>T (p.Gly221=)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114845A>C | CA361491264 | PURA | c.664A>C (p.Thr222Pro)
| |
| 5 | g.140114845A>G | CA361491265 | PURA | c.664A>G (p.Thr222Ala)
| |
| 5 | g.140114845A>T | CA361491266 | PURA | c.664A>T (p.Thr222Ser)
| gnomAD v4 |
| 5 | g.140114846C>A | CA361491267 | PURA | c.665C>A (p.Thr222Asn)
| |
| 5 | g.140114846C>G | CA361491268 | PURA | c.665C>G (p.Thr222Ser)
| |
| 5 | g.140114846C>T | CA361491269 | PURA | c.665C>T (p.Thr222Ile)
| |
| 5 | g.140114847C>A | CA446831168 | PURA | c.666C>A (p.Thr222=)
| |
| 5 | g.140114847C>G | CA446831167 | PURA | c.666C>G (p.Thr222=)
| |
| 5 | g.140114847C>T | CA446831166 | PURA | c.666C>T (p.Thr222=)
| ClinVar |
| 5 | g.140114848T>A | CA361491272 | PURA | c.667T>A (p.Ser223Thr)
| |
| 5 | g.140114848T>C | CA361491270 | PURA | c.667T>C (p.Ser223Pro)
| |
| 5 | g.140114848T>G | CA361491271 | PURA | c.667T>G (p.Ser223Ala)
| COSMIC |
| 5 | g.140114849C>A | CA361491273 | PURA | c.668C>A (p.Ser223Tyr)
| |
| 5 | g.140114849C= | CA1586595524 | PURA | c.668C= (p.Ser223=)
| |
| 5 | g.140114849C>G | CA3437491 | PURA | c.668C>G (p.Ser223Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114849C>T | CA361491274 | PURA | c.668C>T (p.Ser223Phe)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114850C>A | CA446831170 | PURA | c.669C>A (p.Ser223=)
| |
| 5 | g.140114850C= | CA1586595531 | PURA | c.669C= (p.Ser223=)
| |
| 5 | g.140114850C>G | CA446831171 | PURA | c.669C>G (p.Ser223=)
| |
| 5 | g.140114850C>T | CA3437492 | PURA | c.669C>T (p.Ser223=)
| ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.140114851T>A | CA361491275 | PURA | c.670T>A (p.Leu224Met)
| |
| 5 | g.140114851T>C | CA446831172 | PURA | c.670T>C (p.Leu224=)
| |
| 5 | g.140114851T>G | CA361491276 | PURA | c.670T>G (p.Leu224Val)
| |
| 5 | g.140114852del | CA2739275109 | PURA | c.671del (p.Leu224Ter)
| ClinVar |
| 5 | g.140114852T>A | CA361491277 | PURA | c.671T>A (p.Leu224Ter)
| |
| 5 | g.140114852T>C | CA361491278 | PURA | c.671T>C (p.Leu224Ser)
| |
| 5 | g.140114852T>G | CA361491279 | PURA | c.671T>G (p.Leu224Trp)
| |
| 5 | g.140114853G>A | CA446831174 | PURA | c.672G>A (p.Leu224=)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.140114853G>C | CA361491280 | PURA | c.672G>C (p.Leu224Phe)
| ClinVar dbSNP |
| 5 | g.140114853G= | CA1586595539 | PURA | c.672G= (p.Leu224=)
| |
| 5 | g.140114853G>T | CA361491281 | PURA | c.672G>T (p.Leu224Phe)
| |
| 5 | g.140114854A>C | CA361491284 | PURA | c.673A>C (p.Thr225Pro)
| |
| 5 | g.140114854A>G | CA361491283 | PURA | c.673A>G (p.Thr225Ala)
| |
| 5 | g.140114854A>T | CA361491282 | PURA | c.673A>T (p.Thr225Ser)
| |
| 5 | g.140114855C>A | CA361491285 | PURA | c.674C>A (p.Thr225Asn)
| |
| 5 | g.140114855C= | CA1586595549 | PURA | c.674C= (p.Thr225=)
| |
| 5 | g.140114855C>G | CA361491287 | PURA | c.674C>G (p.Thr225Ser)
| |
| 5 | g.140114855C>T | CA361491286 | PURA | c.674C>T (p.Thr225Ile)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.140114855_140114857delinsCTG | CA1586595546 | PURA | c.674_676delinsCTG (p.Thr225=)
| |
| 5 | g.140114855_140114856insA | CA2739289803 | PURA | c.674_675insA (p.Val226CysfsTer?)
| |
| 5 | g.140114856T>A | CA446831176 | PURA | c.675T>A (p.Thr225=)
| |
| 5 | g.140114856T>C | CA446831178 | PURA | c.675T>C (p.Thr225=)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114856T>G | CA446831179 | PURA | c.675T>G (p.Thr225=)
| |
| 5 | g.140114856T= | CA1586595564 | PURA | c.675T= (p.Thr225=)
| |
| 5 | g.140114858_140114859del | CA16618129 | PURA | c.677_678del (p.Val226GlyfsTer?)
| ClinVar dbSNP |
| 5 | g.140114856_140114857insA | CA2695205335 | PURA | c.675_676insA (p.Val226SerfsTer?)
| |
| 5 | g.140114857G>A | CA361491288 | PURA | c.676G>A (p.Val226Met)
| |
| 5 | g.140114857G>C | CA361491289 | PURA | c.676G>C (p.Val226Leu)
| |
| 5 | g.140114857G>T | CA361491290 | PURA | c.676G>T (p.Val226Leu)
| |
| 5 | g.140114858T>A | CA361491291 | PURA | c.677T>A (p.Val226Glu)
| |
| 5 | g.140114858T>C | CA361491292 | PURA | c.677T>C (p.Val226Ala)
| |
| 5 | g.140114858T>G | CA361491293 | PURA | c.677T>G (p.Val226Gly)
| |
| 5 | g.140114858T= | CA1586595569 | PURA | c.677T= (p.Val226=)
| |
| 5 | g.140114859G>A | CA446831184 | PURA | c.678G>A (p.Val226=)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114859G>C | CA446831185 | PURA | c.678G>C (p.Val226=)
| |
| 5 | g.140114859G= | CA1586595576 | PURA | c.678G= (p.Val226=)
| |
| 5 | g.140114859G>T | CA446831186 | PURA | c.678G>T (p.Val226=)
| |
| 5 | g.140114862_140114863insTGAGGAC | CA1139659105 | PURA | c.681_682insTGAGGAC (p.Asn228Ter)
| ClinVar dbSNP |
| 5 | g.140114860G>A | CA361491294 | PURA | c.679G>A (p.Asp227Asn)
| |
| 5 | g.140114860G>C | CA361491295 | PURA | c.679G>C (p.Asp227His)
| |
| 5 | g.140114860G>T | CA361491296 | PURA | c.679G>T (p.Asp227Tyr)
| |
| 5 | g.140114861A>C | CA361491297 | PURA | c.680A>C (p.Asp227Ala)
| |
| 5 | g.140114861A>G | CA361491298 | PURA | c.680A>G (p.Asp227Gly)
| |
| 5 | g.140114861A>T | CA361491299 | PURA | c.680A>T (p.Asp227Val)
| |
| 5 | g.140114862C>A | CA361491301 | PURA | c.681C>A (p.Asp227Glu)
| |
| 5 | g.140114862C>G | CA361491300 | PURA | c.681C>G (p.Asp227Glu)
| |
| 5 | g.140114862C>T | CA446831193 | PURA | c.681C>T (p.Asp227=)
| gnomAD v4 |
| 5 | g.140114863A>C | CA361491302 | PURA | c.682A>C (p.Asn228His)
| |
| 5 | g.140114863A>G | CA361491303 | PURA | c.682A>G (p.Asn228Asp)
| |
| 5 | g.140114863A>T | CA361491304 | PURA | c.682A>T (p.Asn228Tyr)
| |
| 5 | g.140114864del | CA2695205336 | PURA | c.683del (p.Asn228ThrfsTer19)
| |
| 5 | g.140114864A= | CA1586595589 | PURA | c.683A= (p.Asn228=)
| |
| 5 | g.140114864A>C | CA361491305 | PURA | c.683A>C (p.Asn228Thr)
| |
| 5 | g.140114864A>G | CA090962 | PURA | c.683A>G (p.Asn228Ser)
| dbSNP |
| 5 | g.140114864A>T | CA361491306 | PURA | c.683A>T (p.Asn228Ile)
| |
| 5 | g.140114865C>A | CA361491307 | PURA | c.684C>A (p.Asn228Lys)
| |
| 5 | g.140114865C>G | CA361491308 | PURA | c.684C>G (p.Asn228Lys)
| |
| 5 | g.140114865C>T | CA446830696 | PURA | c.684C>T (p.Asn228=)
| |
| 5 | g.140114866A= | CA1586595596 | PURA | c.685A= (p.Lys229=)
| |
| 5 | g.140114866A>C | CA361491309 | PURA | c.685A>C (p.Lys229Gln)
| |
| 5 | g.140114866A>G | CA361491310 | PURA | c.685A>G (p.Lys229Glu)
| |
| 5 | g.140114866A>T | CA16604707 | PURA | c.685A>T (p.Lys229Ter)
| ClinVar dbSNP |
| 5 | g.140114867A>C | CA361491313 | PURA | c.686A>C (p.Lys229Thr)
| |
| 5 | g.140114867A>G | CA361491312 | PURA | c.686A>G (p.Lys229Arg)
| |
| 5 | g.140114867A>T | CA361491311 | PURA | c.686A>T (p.Lys229Met)
| |
| 5 | g.140114868G>A | CA446830697 | PURA | c.687G>A (p.Lys229=)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114868G>C | CA361491314 | PURA | c.687G>C (p.Lys229Asn)
| |
| 5 | g.140114868G= | CA1586595600 | PURA | c.687G= (p.Lys229=)
| |
| 5 | g.140114868G>T | CA361491315 | PURA | c.687G>T (p.Lys229Asn)
| |
| 5 | g.140114869C>A | CA361491316 | PURA | c.688C>A (p.Arg230Ser)
| |
| 5 | g.140114869C>G | CA361491317 | PURA | c.688C>G (p.Arg230Gly)
| |
| 5 | g.140114869C>T | CA361491318 | PURA | c.688C>T (p.Arg230Cys)
| |
| 5 | g.140114870G>A | CA361491319 | PURA | c.689G>A (p.Arg230His)
| |
| 5 | g.140114870G>C | CA361491320 | PURA | c.689G>C (p.Arg230Pro)
| |
| 5 | g.140114870G>T | CA361491321 | PURA | c.689G>T (p.Arg230Leu)
| |
| 5 | g.140114870_140114873delinsGCTT | CA1586595602 | PURA | c.689_692delinsGCTT (p.Arg230=)
| |
| 5 | g.140114871C>A | CA446830702 | PURA | c.690C>A (p.Arg230=)
| |
| 5 | g.140114871C= | CA1586595627 | PURA | c.690C= (p.Arg230=)
| |
| 5 | g.140114871C>G | CA3437493 | PURA | c.690C>G (p.Arg230=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114871C>T | CA446830701 | PURA | c.690C>T (p.Arg230=)
| gnomAD v4 |
| 5 | g.140114878_140114880del | CA199218 | PURA | c.697_699del (p.Phe233del)
| ClinVar dbSNP |
| 5 | g.140114872T>A | CA361491322 | PURA | c.691T>A (p.Phe231Ile)
| |
| 5 | g.140114872T>C | CA361491323 | PURA | c.691T>C (p.Phe231Leu)
| |
| 5 | g.140114872T>G | CA361491324 | PURA | c.691T>G (p.Phe231Val)
| |
| 5 | g.140114873T>A | CA361491327 | PURA | c.692T>A (p.Phe231Tyr)
| |
| 5 | g.140114873T>C | CA361491326 | PURA | c.692T>C (p.Phe231Ser)
| ClinVar dbSNP |
| 5 | g.140114873T>G | CA361491325 | PURA | c.692T>G (p.Phe231Cys)
| ClinVar dbSNP |
| 5 | g.140114873T= | CA1586595641 | PURA | c.692T= (p.Phe231=)
| |
| 5 | g.140114874C>A | CA361491328 | PURA | c.693C>A (p.Phe231Leu)
| |
| 5 | g.140114874C= | CA1586595651 | PURA | c.693C= (p.Phe231=)
| |
| 5 | g.140114874C>G | CA361491329 | PURA | c.693C>G (p.Phe231Leu)
| |
| 5 | g.140114874C>T | CA3437494 | PURA | c.693C>T (p.Phe231=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114875T>A | CA361491330 | PURA | c.694T>A (p.Phe232Ile)
| |
| 5 | g.140114875T>C | CA361491331 | PURA | c.694T>C (p.Phe232Leu)
| |
| 5 | g.140114875T>G | CA361491332 | PURA | c.694T>G (p.Phe232Val)
| |
| 5 | g.140114876T>A | CA361491333 | PURA | c.695T>A (p.Phe232Tyr)
| |
| 5 | g.140114876T>C | CA361491334 | PURA | c.695T>C (p.Phe232Ser)
| |
| 5 | g.140114876T>G | CA361491335 | PURA | c.695T>G (p.Phe232Cys)
| |
| 5 | g.140114877C>A | CA361491336 | PURA | c.696C>A (p.Phe232Leu)
| |
| 5 | g.140114877C= | CA1586595660 | PURA | c.696C= (p.Phe232=)
| |
| 5 | g.140114877C>G | CA361491337 | PURA | c.696C>G (p.Phe232Leu)
| |
| 5 | g.140114877C>T | CA3437495 | PURA | c.696C>T (p.Phe232=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114878T>A | CA361491339 | PURA | c.697T>A (p.Phe233Ile)
| |
| 5 | g.140114878T>C | CA361491338 | PURA | c.697T>C (p.Phe233Leu)
| |
| 5 | g.140114878T>G | CA361491340 | PURA | c.697T>G (p.Phe233Val)
| |
| 5 | g.140114879T>A | CA361491341 | PURA | c.698T>A (p.Phe233Tyr)
| |
| 5 | g.140114879T>C | CA090931 | PURA | c.698T>C (p.Phe233Ser)
| |
| 5 | g.140114879T>G | CA361491342 | PURA | c.698T>G (p.Phe233Cys)
| |
| 5 | g.140114880C>A | CA361491343 | PURA | c.699C>A (p.Phe233Leu)
| |
| 5 | g.140114880C= | CA1586595671 | PURA | c.699C= (p.Phe233=)
| |
| 5 | g.140114880C>G | CA361491344 | PURA | c.699C>G (p.Phe233Leu)
| |
| 5 | g.140114880C>T | CA3437496 | PURA | c.699C>T (p.Phe233=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114881G>A | CA361491345 | PURA | c.700G>A (p.Asp234Asn)
| |
| 5 | g.140114881G>C | CA361491346 | PURA | c.700G>C (p.Asp234His)
| |
| 5 | g.140114881G>T | CA361491347 | PURA | c.700G>T (p.Asp234Tyr)
| |
| 5 | g.140114882A>C | CA361491348 | PURA | c.701A>C (p.Asp234Ala)
| |
| 5 | g.140114882A>G | CA361491349 | PURA | c.701A>G (p.Asp234Gly)
| |
| 5 | g.140114882A>T | CA361491350 | PURA | c.701A>T (p.Asp234Val)
| |
| 5 | g.140114883T>A | CA361491351 | PURA | c.702T>A (p.Asp234Glu)
| |
| 5 | g.140114883T>C | CA446830712 | PURA | c.702T>C (p.Asp234=)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.140114883T>G | CA361491352 | PURA | c.702T>G (p.Asp234Glu)
| |
| 5 | g.140114883T= | CA1586595687 | PURA | c.702T= (p.Asp234=)
| |
| 5 | g.140114883_140114884delinsTG | CA1586595688 | PURA | c.702_703delinsTG (p.Asp234=)
| |
