Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80108609_80108697del | CA2810576509 | GAA | c.1194+2_1195del | |
17 | g.80108679_80116948del | CA913184754 | GAA | c.1195-18_2190-20del c.1195-18_*328-20del | |
17 | g.80108678_80116951del | CA658795244 | GAA | c.1195-19_2190-17del c.1195-19_*328-17del | ClinVar |
17 | g.80108693G>A | CA2576414022 | GAA | c.1195-4G>A (n.1195-4G>A) | ClinVar |
17 | g.80108693G= | CA2277812919 | GAA | c.1195-4G= (n.1195-4G=) | |
17 | g.80108693G>T | CA10604494 | GAA | c.1195-4G>T (n.1195-4G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108694C= | CA2277812920 | GAA | c.1195-3C= (n.1195-3C=) | |
17 | g.80108694C>G | CA8815227 | GAA | c.1195-3C>G (n.1195-3C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108694C>T | CA2277812921 | GAA | c.1195-3C>T (n.1195-3C>T) | dbSNP gnomAD v4 |
17 | g.80108695A= | CA2277812922 | GAA | c.1195-2A= (n.1195-2A=) | |
17 | g.80108695A>C | CA8815229 | GAA | c.1195-2A>C (n.1195-2A>C) | ClinVar dbSNP ExAC gnomAD v4 |
17 | g.80108695A>G | CA8815228 | GAA | c.1195-2A>G (n.1195-2A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108695A>T | CA401365147 | GAA | c.1195-2A>T (n.1195-2A>T) | |
17 | g.80108696G>A | CA401365148 | GAA | c.1195-1G>A (n.1195-1G>A) | ClinVar dbSNP gnomAD v4 |
17 | g.80108696G>C | CA401365149 | GAA | c.1195-1G>C (n.1195-1G>C) | |
17 | g.80108696G= | CA2277812923 | GAA | c.1195-1G= (n.1195-1G=) | |
17 | g.80108696G>T | CA401365150 | GAA | c.1195-1G>T (n.1195-1G>T) | gnomAD v4 |
17 | g.80108697G>A | CA401365151 | GAA | c.1195G>A (p.Asp399Asn) | gnomAD v4 |
17 | g.80108697G>C | CA401365152 | GAA | c.1195G>C (p.Asp399His) | |
17 | g.80108697G>T | CA401365153 | GAA | c.1195G>T (p.Asp399Tyr) | COSMIC |
17 | g.80108698A>C | CA401365156 | GAA | c.1196A>C (p.Asp399Ala) | |
17 | g.80108698A>G | CA401365154 | GAA | c.1196A>G (p.Asp399Gly) | |
17 | g.80108698A>T | CA401365155 | GAA | c.1196A>T (p.Asp399Val) | |
17 | g.80108701_80108712del | CA658795246 | GAA | c.1199_1210del (p.Val400_Asn403del) | |
17 | g.80108699C>A | CA401365157 | GAA | c.1197C>A (p.Asp399Glu) | |
17 | g.80108699C= | CA2277812925 | GAA | c.1197C= (p.Asp399=) | |
17 | g.80108699C>G | CA401365158 | GAA | c.1197C>G (p.Asp399Glu) | |
17 | g.80108699C>T | CA8815230 | GAA | c.1197C>T (p.Asp399=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80108699_80108700delinsCG | CA2277812924 | GAA | c.1197_1198delinsCG (p.Asp399=) | |
17 | g.80108700del | CA8815231 | GAA | c.1198del (p.Val400SerfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108700G>A | CA8815232 | GAA | c.1198G>A (p.Val400Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108700G>C | CA401365159 | GAA | c.1198G>C (p.Val400Leu) | |
17 | g.80108700G= | CA2277812926 | GAA | c.1198G= (p.Val400=) | |
17 | g.80108700G>T | CA401365160 | GAA | c.1198G>T (p.Val400Phe) | |
17 | g.80108701T>A | CA401365161 | GAA | c.1199T>A (p.Val400Asp) | |
17 | g.80108701T>C | CA401365163 | GAA | c.1199T>C (p.Val400Ala) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108701T>G | CA401365162 | GAA | c.1199T>G (p.Val400Gly) | |
17 | g.80108701T= | CA2277812927 | GAA | c.1199T= (p.Val400=) | |
17 | g.80108702C>A | CA502402442 | GAA | c.1200C>A (p.Val400=) | |
17 | g.80108702C= | CA2277812928 | GAA | c.1200C= (p.Val400=) | |
17 | g.80108702C>G | CA502402443 | GAA | c.1200C>G (p.Val400=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108702C>T | CA502402444 | GAA | c.1200C>T (p.Val400=) | ClinVar dbSNP gnomAD v4 |
17 | g.80108703C>A | CA401365164 | GAA | c.1201C>A (p.Gln401Lys) | |
17 | g.80108703C>G | CA401365165 | GAA | c.1201C>G (p.Gln401Glu) | |
17 | g.80108703C>T | CA401365166 | GAA | c.1201C>T (p.Gln401Ter) | gnomAD v4 |
17 | g.80108704A>C | CA401365167 | GAA | c.1202A>C (p.Gln401Pro) | |
17 | g.80108704A>G | CA401365168 | GAA | c.1202A>G (p.Gln401Arg) | |
17 | g.80108704A>T | CA401365169 | GAA | c.1202A>T (p.Gln401Leu) | |
17 | g.80108704_80108705insAT | CA2547187765 | GAA | c.1202_1203insAT (p.Trp402CysfsTer?) | |
17 | g.80108705G>A | CA145749 | GAA | c.1203G>A (p.Gln401=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108705G>C | CA401365170 | GAA | c.1203G>C (p.Gln401His) | |
17 | g.80108705G= | CA2277812929 | GAA | c.1203G= (p.Gln401=) | |
17 | g.80108705G>T | CA401365171 | GAA | c.1203G>T (p.Gln401His) | |
17 | g.80108705_80108706insGAACGACACGGGACCGTCTGCTGGGGCCTGAGGAGACGGTCCCGTGTTGTGGCTGCAGGACGTCCAA | CA2504127085 | GAA | c.1203_1204insGAACGACACGGGACCGTCTGCTGGGGCCTGAGGAGACGGTCCCGTGTTGTGGCTGCAGGACGTCCAA (p.Trp402GlufsTer?) | |
17 | g.80108706T>A | CA401365172 | GAA | c.1204T>A (p.Trp402Arg) | |
17 | g.80108706T>C | CA401365173 | GAA | c.1204T>C (p.Trp402Arg) | gnomAD v4 |
17 | g.80108706T>G | CA401365174 | GAA | c.1204T>G (p.Trp402Gly) | |
17 | g.80108707G>A | CA401365175 | GAA | c.1205G>A (p.Trp402Ter) | ClinVar |
17 | g.80108707G>C | CA401365177 | GAA | c.1205G>C (p.Trp402Ser) | |
17 | g.80108707G>T | CA401365176 | GAA | c.1205G>T (p.Trp402Leu) | |
17 | g.80108708G>A | CA401365178 | GAA | c.1206G>A (p.Trp402Ter) | |
17 | g.80108708G>C | CA401365179 | GAA | c.1206G>C (p.Trp402Cys) | |
17 | g.80108708G>T | CA401365180 | GAA | c.1206G>T (p.Trp402Cys) | |
17 | g.80108709A>C | CA401365181 | GAA | c.1207A>C (p.Asn403His) | |
17 | g.80108709A>G | CA401365182 | GAA | c.1207A>G (p.Asn403Asp) | |
17 | g.80108709A>T | CA401365183 | GAA | c.1207A>T (p.Asn403Tyr) | |
17 | g.80108710A>C | CA401365184 | GAA | c.1208A>C (p.Asn403Thr) | |
17 | g.80108710A>G | CA401365185 | GAA | c.1208A>G (p.Asn403Ser) | |
17 | g.80108710A>T | CA401365186 | GAA | c.1208A>T (p.Asn403Ile) | |
17 | g.80108711del | CA658795247 | GAA | c.1209del (p.Asn403LysfsTer?) | |
17 | g.80108711C>A | CA401365187 | GAA | c.1209C>A (p.Asn403Lys) | |
17 | g.80108711C= | CA2277812930 | GAA | c.1209C= (p.Asn403=) | |
17 | g.80108711C>G | CA401365188 | GAA | c.1209C>G (p.Asn403Lys) | |
17 | g.80108711C>T | CA8815233 | GAA | c.1209C>T (p.Asn403=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108712G>A | CA8815234 | GAA | c.1210G>A (p.Asp404Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108712G>C | CA401365190 | GAA | c.1210G>C (p.Asp404His) | |
17 | g.80108712G= | CA2277812931 | GAA | c.1210G= (p.Asp404=) | |
17 | g.80108712G>T | CA401365189 | GAA | c.1210G>T (p.Asp404Tyr) | gnomAD v4 |
17 | g.80108713A= | CA2277812932 | GAA | c.1211A= (p.Asp404=) | |
17 | g.80108713A>C | CA401365191 | GAA | c.1211A>C (p.Asp404Ala) | |
17 | g.80108713A>G | CA401365192 | GAA | c.1211A>G (p.Asp404Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108713A>T | CA10604928 | GAA | c.1211A>T (p.Asp404Val) | ClinVar dbSNP gnomAD v4 |
17 | g.80108714C>A | CA401365193 | GAA | c.1212C>A (p.Asp404Glu) | |
17 | g.80108714C>G | CA401365194 | GAA | c.1212C>G (p.Asp404Glu) | |
17 | g.80108714C>T | CA502402447 | GAA | c.1212C>T (p.Asp404=) | ClinVar dbSNP gnomAD v4 |
17 | g.80108715C>A | CA401365196 | GAA | c.1213C>A (p.Leu405Met) | |
17 | g.80108715C>G | CA401365195 | GAA | c.1213C>G (p.Leu405Val) | |
17 | g.80108715C>T | CA502402448 | GAA | c.1213C>T (p.Leu405=) | |
17 | g.80108716T>A | CA401365197 | GAA | c.1214T>A (p.Leu405Gln) | |
17 | g.80108716T>C | CA401365198 | GAA | c.1214T>C (p.Leu405Pro) | ClinVar dbSNP |
17 | g.80108716T>G | CA401365199 | GAA | c.1214T>G (p.Leu405Arg) | |
17 | g.80108717G>A | CA502402453 | GAA | c.1215G>A (p.Leu405=) | ClinVar gnomAD v4 |
17 | g.80108717G>C | CA502402454 | GAA | c.1215G>C (p.Leu405=) | |
17 | g.80108717G= | CA2277812933 | GAA | c.1215G= (p.Leu405=) | |
17 | g.80108717G>T | CA502402452 | GAA | c.1215G>T (p.Leu405=) | dbSNP |
17 | g.80108718G>A | CA401365200 | GAA | c.1216G>A (p.Asp406Asn) | ClinVar dbSNP |
17 | g.80108718G>C | CA401365201 | GAA | c.1216G>C (p.Asp406His) | |
17 | g.80108718G= | CA2277812934 | GAA | c.1216G= (p.Asp406=) | |
17 | g.80108718G>T | CA401365202 | GAA | c.1216G>T (p.Asp406Tyr) | COSMIC |
17 | g.80108719A>C | CA401365205 | GAA | c.1217A>C (p.Asp406Ala) | |
17 | g.80108719A>G | CA401365204 | GAA | c.1217A>G (p.Asp406Gly) | |
17 | g.80108719A>T | CA401365203 | GAA | c.1217A>T (p.Asp406Val) | |
17 | g.80108720C>A | CA401365206 | GAA | c.1218C>A (p.Asp406Glu) | |
17 | g.80108720C= | CA2277812935 | GAA | c.1218C= (p.Asp406=) | |
17 | g.80108720C>G | CA401365207 | GAA | c.1218C>G (p.Asp406Glu) | |
17 | g.80108720C>T | CA502402464 | GAA | c.1218C>T (p.Asp406=) | ClinVar dbSNP gnomAD v4 |
17 | g.80108721T>A | CA401365208 | GAA | c.1219T>A (p.Tyr407Asn) | |
17 | g.80108721T>C | CA234047 | GAA | c.1219T>C (p.Tyr407His) | ClinVar dbSNP |
17 | g.80108721T>G | CA401365209 | GAA | c.1219T>G (p.Tyr407Asp) | |
17 | g.80108721T= | CA2277812936 | GAA | c.1219T= (p.Tyr407=) | |
17 | g.80108722A= | CA2277812937 | GAA | c.1220A= (p.Tyr407=) | |
17 | g.80108722A>C | CA401365210 | GAA | c.1220A>C (p.Tyr407Ser) | |
17 | g.80108722A>G | CA8815235 | GAA | c.1220A>G (p.Tyr407Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108722A>T | CA401365211 | GAA | c.1220A>T (p.Tyr407Phe) | |
17 | g.80108723del | CA2695227081 | GAA | c.1221del (p.Tyr407Ter) | |
17 | g.80108723C>A | CA401365212 | GAA | c.1221C>A (p.Tyr407Ter) | |
17 | g.80108723C>G | CA401365213 | GAA | c.1221C>G (p.Tyr407Ter) | |
17 | g.80108723C>T | CA502402469 | GAA | c.1221C>T (p.Tyr407=) | |
17 | g.80108724A= | CA2277812938 | GAA | c.1222A= (p.Met408=) | |
17 | g.80108724A>C | CA401365214 | GAA | c.1222A>C (p.Met408Leu) | dbSNP |
17 | g.80108724A>G | CA8815236 | GAA | c.1222A>G (p.Met408Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108724A>T | CA8815237 | GAA | c.1222A>T (p.Met408Leu) | dbSNP ExAC gnomAD v2 |
17 | g.80108725T>A | CA401365215 | GAA | c.1223T>A (p.Met408Lys) | gnomAD v4 |
17 | g.80108725T>C | CA401365216 | GAA | c.1223T>C (p.Met408Thr) | ClinVar |
17 | g.80108725T>G | CA401365217 | GAA | c.1223T>G (p.Met408Arg) | |
17 | g.80108725T= | CA2277812939 | GAA | c.1223T= (p.Met408=) | |
17 | g.80108726G>A | CA401365218 | GAA | c.1224G>A (p.Met408Ile) | |
17 | g.80108726G>C | CA401365219 | GAA | c.1224G>C (p.Met408Ile) | |
17 | g.80108726G>T | CA401365220 | GAA | c.1224G>T (p.Met408Ile) | |
17 | g.80108727dup | CA923726362 | GAA | c.1225dup (p.Asp409GlyfsTer?) | ClinVar dbSNP |
17 | g.80108727G>A | CA401365221 | GAA | c.1225G>A (p.Asp409Asn) | gnomAD v4 |
17 | g.80108727G>C | CA401365222 | GAA | c.1225G>C (p.Asp409His) | |
17 | g.80108727G>T | CA401365223 | GAA | c.1225G>T (p.Asp409Tyr) | |
17 | g.80108727_80108744del | CA2734102231 | GAA | c.1225_1242del (p.Asp409_Phe414del) | dbSNP |
17 | g.80108728A= | CA2277812940 | GAA | c.1226A= (p.Asp409=) | |
17 | g.80108728A>C | CA401365226 | GAA | c.1226A>C (p.Asp409Ala) | |
17 | g.80108728A>G | CA401365224 | GAA | c.1226A>G (p.Asp409Gly) | |
17 | g.80108728A>T | CA401365225 | GAA | c.1226A>T (p.Asp409Val) | |
17 | g.80108728_80108729insG | CA915952251 | GAA | c.1226_1227insG (p.Asp409GlufsTer?) | ClinVar dbSNP |
17 | g.80108729C>A | CA401365227 | GAA | c.1227C>A (p.Asp409Glu) | |
17 | g.80108729C= | CA2277812941 | GAA | c.1227C= (p.Asp409=) | |
17 | g.80108729C>G | CA401365228 | GAA | c.1227C>G (p.Asp409Glu) | |
17 | g.80108729C>T | CA502402484 | GAA | c.1227C>T (p.Asp409=) | ClinVar dbSNP gnomAD v4 |
17 | g.80108730T>A | CA401365229 | GAA | c.1228T>A (p.Ser410Thr) | |
17 | g.80108730T>C | CA401365230 | GAA | c.1228T>C (p.Ser410Pro) | ClinVar dbSNP |
17 | g.80108730T>G | CA401365231 | GAA | c.1228T>G (p.Ser410Ala) | |
17 | g.80108730T= | CA2277812942 | GAA | c.1228T= (p.Ser410=) | |
17 | g.80108731C>A | CA401365232 | GAA | c.1229C>A (p.Ser410Tyr) | |
17 | g.80108731C= | CA2277812943 | GAA | c.1229C= (p.Ser410=) | |
17 | g.80108731C>G | CA401365233 | GAA | c.1229C>G (p.Ser410Cys) | |
17 | g.80108731C>T | CA8815238 | GAA | c.1229C>T (p.Ser410Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108733del | CA2695227082 | GAA | c.1231del (p.Arg411GlyfsTer29) | |
17 | g.80108732C>A | CA8815239 | GAA | c.1230C>A (p.Ser410=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108732C= | CA2277812944 | GAA | c.1230C= (p.Ser410=) | |
17 | g.80108732C>G | CA502402492 | GAA | c.1230C>G (p.Ser410=) | |
17 | g.80108732C>T | CA502402490 | GAA | c.1230C>T (p.Ser410=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108733C>A | CA502402493 | GAA | c.1231C>A (p.Arg411=) | |
17 | g.80108733C= | CA2277812945 | GAA | c.1231C= (p.Arg411=) | |
17 | g.80108733C>G | CA401365234 | GAA | c.1231C>G (p.Arg411Gly) | |
17 | g.80108733C>T | CA8815240 | GAA | c.1231C>T (p.Arg411Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80108734G>A | CA8815241 | GAA | c.1232G>A (p.Arg411Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108734G>C | CA401365236 | GAA | c.1232G>C (p.Arg411Pro) | ClinVar dbSNP |
17 | g.80108734G= | CA2277812946 | GAA | c.1232G= (p.Arg411=) | |
17 | g.80108734G>T | CA401365235 | GAA | c.1232G>T (p.Arg411Leu) | |
17 | g.80108736_80108738dup | CA2573154959 | GAA | c.1234_1236dup (p.Arg412_Asp413insArg) | ClinVar dbSNP |
17 | g.80108735G>A | CA502402504 | GAA | c.1233G>A (p.Arg411=) | |
17 | g.80108735G>C | CA502402499 | GAA | c.1233G>C (p.Arg411=) | |
17 | g.80108735G>T | CA502402502 | GAA | c.1233G>T (p.Arg411=) | gnomAD v4 |
17 | g.80108736A= | CA2277812947 | GAA | c.1234A= (p.Arg412=) | |
17 | g.80108736A>C | CA502402505 | GAA | c.1234A>C (p.Arg412=) | ClinVar |
17 | g.80108736A>G | CA401365237 | GAA | c.1234A>G (p.Arg412Gly) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108736A>T | CA401365238 | GAA | c.1234A>T (p.Arg412Trp) | |
17 | g.80108737G>A | CA294892536 | GAA | c.1235G>A (p.Arg412Lys) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108737G>C | CA401365239 | GAA | c.1235G>C (p.Arg412Thr) | |
17 | g.80108737G= | CA2277812948 | GAA | c.1235G= (p.Arg412=) | |
17 | g.80108737G>T | CA401365240 | GAA | c.1235G>T (p.Arg412Met) | |
17 | g.80108745_80108774del | CA2695227083 | GAA | c.1243_1272del (p.Thr415_Phe424del) | |
17 | g.80108738G>A | CA502402510 | GAA | c.1236G>A (p.Arg412=) | ClinVar |
17 | g.80108738G>C | CA401365241 | GAA | c.1236G>C (p.Arg412Ser) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108738G= | CA2277812949 | GAA | c.1236G= (p.Arg412=) | |
17 | g.80108738G>T | CA401365242 | GAA | c.1236G>T (p.Arg412Ser) | |
17 | g.80108739G>A | CA401365243 | GAA | c.1237G>A (p.Asp413Asn) | |
17 | g.80108739G>C | CA401365244 | GAA | c.1237G>C (p.Asp413His) | |
17 | g.80108739G>T | CA401365245 | GAA | c.1237G>T (p.Asp413Tyr) | |
17 | g.80108740A>C | CA401365246 | GAA | c.1238A>C (p.Asp413Ala) | |
17 | g.80108740A>G | CA401365247 | GAA | c.1238A>G (p.Asp413Gly) | |
17 | g.80108740A>T | CA401365248 | GAA | c.1238A>T (p.Asp413Val) | |
17 | g.80108741C>A | CA401365249 | GAA | c.1239C>A (p.Asp413Glu) | |
17 | g.80108741C= | CA2277812950 | GAA | c.1239C= (p.Asp413=) | |
17 | g.80108741C>G | CA401365250 | GAA | c.1239C>G (p.Asp413Glu) | ClinVar |
17 | g.80108741C>T | CA502402520 | GAA | c.1239C>T (p.Asp413=) | ClinVar dbSNP gnomAD v4 |
17 | g.80108742T>A | CA401365251 | GAA | c.1240T>A (p.Phe414Ile) | |
17 | g.80108742T>C | CA10604498 | GAA | c.1240T>C (p.Phe414Leu) | ClinVar dbSNP |
17 | g.80108742T>G | CA401365252 | GAA | c.1240T>G (p.Phe414Val) | |
17 | g.80108742T= | CA2277812951 | GAA | c.1240T= (p.Phe414=) | |
17 | g.80108743del | CA913184736 | GAA | c.1241del (p.Phe414SerfsTer26) | ClinVar |
17 | g.80108743T>A | CA401365253 | GAA | c.1241T>A (p.Phe414Tyr) | |
17 | g.80108743T>C | CA401365254 | GAA | c.1241T>C (p.Phe414Ser) | |
17 | g.80108743T>G | CA401365255 | GAA | c.1241T>G (p.Phe414Cys) | |
17 | g.80108743_80108746del | CA913014094 | GAA | c.1241_1244del (p.Phe414CysfsTer25) | |
17 | g.80108743_80108746delinsTCAC | CA2277812952 | GAA | c.1241_1244delinsTCAC (p.Phe414=) | |
17 | g.80108744C>A | CA401365256 | GAA | c.1242C>A (p.Phe414Leu) | |
17 | g.80108744C>G | CA401365257 | GAA | c.1242C>G (p.Phe414Leu) | |
17 | g.80108744C>T | CA502402530 | GAA | c.1242C>T (p.Phe414=) | |
17 | g.80108744_80108746del | CA658824781 | GAA | c.1242_1244del (p.Phe414_Thr415delinsLeu) | ClinVar dbSNP |
17 | g.80108745_80108746del | CA2580095334 | GAA | c.1243_1244del (p.Thr415ValfsTer?) | ClinVar |
17 | g.80108745A= | CA2277812953 | GAA | c.1243A= (p.Thr415=) | |
17 | g.80108745A>C | CA401365258 | GAA | c.1243A>C (p.Thr415Pro) | |
17 | g.80108745A>G | CA401365259 | GAA | c.1243A>G (p.Thr415Ala) | dbSNP gnomAD v4 |
17 | g.80108745A>T | CA401365260 | GAA | c.1243A>T (p.Thr415Ser) | |
17 | g.80108746C>A | CA401365262 | GAA | c.1244C>A (p.Thr415Lys) | |
17 | g.80108746C= | CA2277812954 | GAA | c.1244C= (p.Thr415=) | |
17 | g.80108746C>G | CA401365261 | GAA | c.1244C>G (p.Thr415Arg) | |
17 | g.80108746C>T | CA294892544 | GAA | c.1244C>T (p.Thr415Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108747G>A | CA8815242 | GAA | c.1245G>A (p.Thr415=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108747G>C | CA502402535 | GAA | c.1245G>C (p.Thr415=) | |
17 | g.80108747G= | CA2277812955 | GAA | c.1245G= (p.Thr415=) | |
17 | g.80108747G>T | CA502402536 | GAA | c.1245G>T (p.Thr415=) | dbSNP gnomAD v4 |
17 | g.80108748T>A | CA401365263 | GAA | c.1246T>A (p.Phe416Ile) | |
17 | g.80108748T>C | CA401365264 | GAA | c.1246T>C (p.Phe416Leu) | |
17 | g.80108748T>G | CA401365265 | GAA | c.1246T>G (p.Phe416Val) | ClinVar |
17 | g.80108749T>A | CA401365266 | GAA | c.1247T>A (p.Phe416Tyr) | |
17 | g.80108749T>C | CA401365267 | GAA | c.1247T>C (p.Phe416Ser) | |
17 | g.80108749T>G | CA401365268 | GAA | c.1247T>G (p.Phe416Cys) | |
17 | g.80108750C>A | CA401365269 | GAA | c.1248C>A (p.Phe416Leu) | |
17 | g.80108750C= | CA2277812956 | GAA | c.1248C= (p.Phe416=) | |
17 | g.80108750C>G | CA401365270 | GAA | c.1248C>G (p.Phe416Leu) | |
17 | g.80108750C>T | CA502402544 | GAA | c.1248C>T (p.Phe416=) | dbSNP |
17 | g.80108751A>C | CA401365271 | GAA | c.1249A>C (p.Asn417His) | |
17 | g.80108751A>G | CA401365272 | GAA | c.1249A>G (p.Asn417Asp) | |
17 | g.80108751A>T | CA401365273 | GAA | c.1249A>T (p.Asn417Tyr) | |
17 | g.80108752A>C | CA401365274 | GAA | c.1250A>C (p.Asn417Thr) | |
17 | g.80108752A>G | CA401365275 | GAA | c.1250A>G (p.Asn417Ser) | |
17 | g.80108752A>T | CA401365276 | GAA | c.1250A>T (p.Asn417Ile) | |
17 | g.80108753C>A | CA401365277 | GAA | c.1251C>A (p.Asn417Lys) | |
17 | g.80108753C= | CA2277812957 | GAA | c.1251C= (p.Asn417=) | |
17 | g.80108753C>G | CA401365278 | GAA | c.1251C>G (p.Asn417Lys) | dbSNP gnomAD v2 |
17 | g.80108753C>T | CA502402549 | GAA | c.1251C>T (p.Asn417=) | ClinVar |
17 | g.80108754A>C | CA401365279 | GAA | c.1252A>C (p.Lys418Gln) | |
17 | g.80108754A>G | CA401365280 | GAA | c.1252A>G (p.Lys418Glu) | ClinVar |
17 | g.80108754A>T | CA401365281 | GAA | c.1252A>T (p.Lys418Ter) | |
17 | g.80108754_80108787delinsAAGGATGGCTTCCGGGACTTCCCGGCCATGGTGC | CA2277812958 | GAA | c.1252_1285delinsAAGGATGGCTTCCGGGACTTCCCGGCCATGGTGC (p.Lys418=) | |
17 | g.80108755A= | CA2277812959 | GAA | c.1253A= (p.Lys418=) | |
17 | g.80108755A>C | CA401365282 | GAA | c.1253A>C (p.Lys418Thr) | |
17 | g.80108755A>G | CA401365283 | GAA | c.1253A>G (p.Lys418Arg) | ClinVar dbSNP gnomAD v4 |
17 | g.80108755A>T | CA401365284 | GAA | c.1253A>T (p.Lys418Met) | |
17 | g.80108759_80108791del | CA913191006 | GAA | c.1257_1289del (p.Asp419_Gln429del) | ClinVar dbSNP gnomAD v4 |
17 | g.80108756G>A | CA8815243 | GAA | c.1254G>A (p.Lys418=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108756G>C | CA401365285 | GAA | c.1254G>C (p.Lys418Asn) | |
17 | g.80108756G= | CA2277812960 | GAA | c.1254G= (p.Lys418=) | |
17 | g.80108756G>T | CA401365286 | GAA | c.1254G>T (p.Lys418Asn) | |
17 | g.80108757G>A | CA401365287 | GAA | c.1255G>A (p.Asp419Asn) | |
17 | g.80108757G>C | CA401365288 | GAA | c.1255G>C (p.Asp419His) | |
17 | g.80108757G>T | CA401365289 | GAA | c.1255G>T (p.Asp419Tyr) | |
17 | g.80108758A= | CA2277812961 | GAA | c.1256A= (p.Asp419=) | |
17 | g.80108758A>C | CA401365290 | GAA | c.1256A>C (p.Asp419Ala) | |
17 | g.80108758A>G | CA401365292 | GAA | c.1256A>G (p.Asp419Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108758A>T | CA401365291 | GAA | c.1256A>T (p.Asp419Val) | |
17 | g.80108759T>A | CA401365293 | GAA | c.1257T>A (p.Asp419Glu) | |
17 | g.80108759T>C | CA502402559 | GAA | c.1257T>C (p.Asp419=) | |
17 | g.80108759T>G | CA401365294 | GAA | c.1257T>G (p.Asp419Glu) | |
17 | g.80108760G>A | CA294892550 | GAA | c.1258G>A (p.Gly420Ser) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108760G>C | CA401365295 | GAA | c.1258G>C (p.Gly420Arg) | |
17 | g.80108760G= | CA2277812962 | GAA | c.1258G= (p.Gly420=) | |
17 | g.80108760G>T | CA401365296 | GAA | c.1258G>T (p.Gly420Cys) | |
17 | g.80108761G>A | CA401365297 | GAA | c.1259G>A (p.Gly420Asp) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108761G>C | CA401365298 | GAA | c.1259G>C (p.Gly420Ala) | |
17 | g.80108761G= | CA2277812963 | GAA | c.1259G= (p.Gly420=) | |
17 | g.80108761G>T | CA401365299 | GAA | c.1259G>T (p.Gly420Val) | |
17 | g.80108762C>A | CA502402563 | GAA | c.1260C>A (p.Gly420=) | ClinVar |
17 | g.80108762C= | CA2277812964 | GAA | c.1260C= (p.Gly420=) | |
17 | g.80108762C>G | CA502402564 | GAA | c.1260C>G (p.Gly420=) | ClinVar gnomAD v4 |
17 | g.80108762C>T | CA502402565 | GAA | c.1260C>T (p.Gly420=) | dbSNP gnomAD v2 |
17 | g.80108763T>A | CA401365300 | GAA | c.1261T>A (p.Phe421Ile) | |
17 | g.80108763T>C | CA401365301 | GAA | c.1261T>C (p.Phe421Leu) | |
17 | g.80108763T>G | CA401365302 | GAA | c.1261T>G (p.Phe421Val) | COSMIC |
17 | g.80108764dup | CA2695227084 | GAA | c.1262dup (p.Arg422ProfsTer?) | |
17 | g.80108764T>A | CA401365305 | GAA | c.1262T>A (p.Phe421Tyr) | |
17 | g.80108764T>C | CA401365304 | GAA | c.1262T>C (p.Phe421Ser) | gnomAD v4 |
17 | g.80108764T>G | CA401365303 | GAA | c.1262T>G (p.Phe421Cys) | |
17 | g.80108765C>A | CA401365306 | GAA | c.1263C>A (p.Phe421Leu) | |
17 | g.80108765C>G | CA401365307 | GAA | c.1263C>G (p.Phe421Leu) | |
17 | g.80108765C>T | CA502402569 | GAA | c.1263C>T (p.Phe421=) | |
17 | g.80108766C>A | CA502402571 | GAA | c.1264C>A (p.Arg422=) | |
17 | g.80108766C= | CA2277812965 | GAA | c.1264C= (p.Arg422=) | |
17 | g.80108766C>G | CA401365308 | GAA | c.1264C>G (p.Arg422Gly) | |
17 | g.80108766C>T | CA8815244 | GAA | c.1264C>T (p.Arg422Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108767G>A | CA8815245 | GAA | c.1265G>A (p.Arg422Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108767G>C | CA401365309 | GAA | c.1265G>C (p.Arg422Pro) | gnomAD v4 |
17 | g.80108767G= | CA2277812966 | GAA | c.1265G= (p.Arg422=) | |
17 | g.80108767G>T | CA401365310 | GAA | c.1265G>T (p.Arg422Leu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108768G>A | CA502402575 | GAA | c.1266G>A (p.Arg422=) | |
17 | g.80108768G>C | CA502402576 | GAA | c.1266G>C (p.Arg422=) | |
17 | g.80108768G>T | CA502402577 | GAA | c.1266G>T (p.Arg422=) | gnomAD v4 |
17 | g.80108769G>A | CA401365311 | GAA | c.1267G>A (p.Asp423Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108769G>C | CA401365312 | GAA | c.1267G>C (p.Asp423His) | gnomAD v4 |
17 | g.80108769G= | CA2277812967 | GAA | c.1267G= (p.Asp423=) | |
17 | g.80108769G>T | CA401365313 | GAA | c.1267G>T (p.Asp423Tyr) | |
17 | g.80108770A>C | CA401365314 | GAA | c.1268A>C (p.Asp423Ala) | |
17 | g.80108770A>G | CA401365315 | GAA | c.1268A>G (p.Asp423Gly) | |
17 | g.80108770A>T | CA401365316 | GAA | c.1268A>T (p.Asp423Val) | |
17 | g.80108771C>A | CA401365317 | GAA | c.1269C>A (p.Asp423Glu) | |
17 | g.80108771C>G | CA401365318 | GAA | c.1269C>G (p.Asp423Glu) | |
17 | g.80108771C>T | CA502402581 | GAA | c.1269C>T (p.Asp423=) | |
17 | g.80108772T>A | CA401365319 | GAA | c.1270T>A (p.Phe424Ile) | |
17 | g.80108772T>C | CA401365321 | GAA | c.1270T>C (p.Phe424Leu) | |
17 | g.80108772T>G | CA401365320 | GAA | c.1270T>G (p.Phe424Val) | |
17 | g.80108773del | CA2640286692 | GAA | c.1271del (p.Phe424SerfsTer16) | gnomAD v4 |
17 | g.80108773T>A | CA401365322 | GAA | c.1271T>A (p.Phe424Tyr) | |
17 | g.80108773T>C | CA401365324 | GAA | c.1271T>C (p.Phe424Ser) | |
17 | g.80108773T>G | CA401365323 | GAA | c.1271T>G (p.Phe424Cys) | |
17 | g.80108774C>A | CA401365325 | GAA | c.1272C>A (p.Phe424Leu) | |
17 | g.80108774C>G | CA401365326 | GAA | c.1272C>G (p.Phe424Leu) | |
17 | g.80108774C>T | CA502402585 | GAA | c.1272C>T (p.Phe424=) | |
17 | g.80108776del | CA2640286697 | GAA | c.1274del (p.Pro425ArgfsTer15) | ClinVar gnomAD v4 |
17 | g.80108775C>A | CA401365327 | GAA | c.1273C>A (p.Pro425Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108775C= | CA2277812968 | GAA | c.1273C= (p.Pro425=) | |
17 | g.80108775C>G | CA401365328 | GAA | c.1273C>G (p.Pro425Ala) | |
17 | g.80108775C>T | CA401365329 | GAA | c.1273C>T (p.Pro425Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108776C>A | CA8815247 | GAA | c.1274C>A (p.Pro425Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108776C= | CA2277812969 | GAA | c.1274C= (p.Pro425=) | |
17 | g.80108776C>G | CA401365330 | GAA | c.1274C>G (p.Pro425Arg) | |
17 | g.80108776C>T | CA8815246 | GAA | c.1274C>T (p.Pro425Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108777G>A | CA8815248 | GAA | c.1275G>A (p.Pro425=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108777G>C | CA502402589 | GAA | c.1275G>C (p.Pro425=) | |
17 | g.80108777G= | CA2277812970 | GAA | c.1275G= (p.Pro425=) | |
17 | g.80108777G>T | CA502402590 | GAA | c.1275G>T (p.Pro425=) | |
17 | g.80108778G>A | CA401365331 | GAA | c.1276G>A (p.Ala426Thr) | ClinVar dbSNP |
17 | g.80108778G>C | CA401365332 | GAA | c.1276G>C (p.Ala426Pro) | |
17 | g.80108778G>T | CA401365333 | GAA | c.1276G>T (p.Ala426Ser) | |
17 | g.80108779C>A | CA401365334 | GAA | c.1277C>A (p.Ala426Asp) | gnomAD v4 |
17 | g.80108779C>G | CA401365336 | GAA | c.1277C>G (p.Ala426Gly) | |
17 | g.80108779C>T | CA401365335 | GAA | c.1277C>T (p.Ala426Val) | COSMIC |
17 | g.80108780C>A | CA502402594 | GAA | c.1278C>A (p.Ala426=) | gnomAD v4 |
17 | g.80108780C>G | CA502402596 | GAA | c.1278C>G (p.Ala426=) | |
17 | g.80108780C>T | CA502402597 | GAA | c.1278C>T (p.Ala426=) | ClinVar gnomAD v4 |
17 | g.80108781A= | CA2277812971 | GAA | c.1279A= (p.Met427=) | |
17 | g.80108781A>C | CA401365337 | GAA | c.1279A>C (p.Met427Leu) | |
17 | g.80108781A>G | CA401365338 | GAA | c.1279A>G (p.Met427Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108781A>T | CA401365339 | GAA | c.1279A>T (p.Met427Leu) | |
17 | g.80108782T>A | CA401365340 | GAA | c.1280T>A (p.Met427Lys) | |
17 | g.80108782T>C | CA401365341 | GAA | c.1280T>C (p.Met427Thr) | ClinVar dbSNP |
17 | g.80108782T>G | CA401365342 | GAA | c.1280T>G (p.Met427Arg) | |
17 | g.80108782T= | CA2277812972 | GAA | c.1280T= (p.Met427=) | |
17 | g.80108783G>A | CA401365343 | GAA | c.1281G>A (p.Met427Ile) | |
17 | g.80108783G>C | CA401365344 | GAA | c.1281G>C (p.Met427Ile) | |
17 | g.80108783G>T | CA401365345 | GAA | c.1281G>T (p.Met427Ile) | |
17 | g.80108784G>A | CA401365347 | GAA | c.1282G>A (p.Val428Met) | |
17 | g.80108784G>C | CA401365348 | GAA | c.1282G>C (p.Val428Leu) | |
17 | g.80108784G>T | CA401365346 | GAA | c.1282G>T (p.Val428Leu) | gnomAD v4 |
17 | g.80108785T>A | CA401365349 | GAA | c.1283T>A (p.Val428Glu) | |
17 | g.80108785T>C | CA401365350 | GAA | c.1283T>C (p.Val428Ala) | |
17 | g.80108785T>G | CA401365351 | GAA | c.1283T>G (p.Val428Gly) | |
17 | g.80108786G>A | CA502402602 | GAA | c.1284G>A (p.Val428=) | gnomAD v4 |
17 | g.80108786G>C | CA502402604 | GAA | c.1284G>C (p.Val428=) | |
17 | g.80108786G>T | CA502402606 | GAA | c.1284G>T (p.Val428=) | ClinVar dbSNP COSMIC |
17 | g.80108787C>A | CA401365352 | GAA | c.1285C>A (p.Gln429Lys) | gnomAD v4 |
17 | g.80108787C= | CA2277812973 | GAA | c.1285C= (p.Gln429=) | |
17 | g.80108787C>G | CA8815249 | GAA | c.1285C>G (p.Gln429Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108787C>T | CA401365353 | GAA | c.1285C>T (p.Gln429Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108788A= | CA2277812974 | GAA | c.1286A= (p.Gln429=) | |
17 | g.80108788A>C | CA401365354 | GAA | c.1286A>C (p.Gln429Pro) | |
17 | g.80108788A>G | CA8815250 | GAA | c.1286A>G (p.Gln429Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80108788A>T | CA401365355 | GAA | c.1286A>T (p.Gln429Leu) | |
17 | g.80108789G>A | CA502402608 | GAA | c.1287G>A (p.Gln429=) | |
17 | g.80108789G>C | CA401365356 | GAA | c.1287G>C (p.Gln429His) | |
17 | g.80108789G>T | CA401365357 | GAA | c.1287G>T (p.Gln429His) | |
17 | g.80108790G>A | CA8815251 | GAA | c.1288G>A (p.Glu430Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108790G>C | CA401365359 | GAA | c.1288G>C (p.Glu430Gln) | |
17 | g.80108790G= | CA2277812975 | GAA | c.1288G= (p.Glu430=) | |
17 | g.80108790G>T | CA401365358 | GAA | c.1288G>T (p.Glu430Ter) | |
17 | g.80108791A>C | CA401365360 | GAA | c.1289A>C (p.Glu430Ala) | |
17 | g.80108791A>G | CA401365361 | GAA | c.1289A>G (p.Glu430Gly) | |
17 | g.80108791A>T | CA401365362 | GAA | c.1289A>T (p.Glu430Val) | |
17 | g.80108793_80108801del | CA658795248 | GAA | c.1291_1299del (p.Leu431_Gln433del) | |
17 | g.80108792G>A | CA502402611 | GAA | c.1290G>A (p.Glu430=) | |
17 | g.80108792G>C | CA401365363 | GAA | c.1290G>C (p.Glu430Asp) | |
17 | g.80108792G>T | CA401365364 | GAA | c.1290G>T (p.Glu430Asp) | |
17 | g.80108795_80108814del | CA658795249 | GAA | c.1293_1312del (p.Gln433AspfsTer?) | ClinVar |
17 | g.80108795_80108885del | CA891862614 | GAA | c.1293_1326+57del | |
17 | g.80108793C>A | CA401365366 | GAA | c.1291C>A (p.Leu431Met) | |
17 | g.80108793C= | CA2277812976 | GAA | c.1291C= (p.Leu431=) | |
17 | g.80108793C>G | CA401365365 | GAA | c.1291C>G (p.Leu431Val) | |
17 | g.80108793C>T | CA502402616 | GAA | c.1291C>T (p.Leu431=) | |
17 | g.80108793dup | CA913014095 | GAA | c.1291dup (p.Leu431ProfsTer?) |