WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.71299129C>A | CA461327867 | EYA1 | c.744G>T (p.Thr248=) c.642G>T (p.Thr214=) c.729G>T (p.Thr243=) c.*23G>T (n.*23G>T) n.1207G>T c.*511G>T (n.*511G>T) c.831G>T (p.Thr277=) c.816G>T (p.Thr272=) c.813G>T (p.Thr271=) c.726G>T (p.Thr242=) c.645G>T (p.Thr215=) c.741G>T (p.Thr247=) n.1239G>T c.378G>T (p.Thr126=) c.681G>T (p.Thr227=) c.393G>T (p.Thr131=) c.828G>T (p.Thr276=) | |
| 8 | g.71299129C= | CA1792728339 | EYA1 | c.744G= (p.Thr248=) c.642G= (p.Thr214=) c.729G= (p.Thr243=) c.*23G= (n.*23G=) n.1207G= c.*511G= (n.*511G=) c.831G= (p.Thr277=) c.816G= (p.Thr272=) c.813G= (p.Thr271=) c.726G= (p.Thr242=) c.645G= (p.Thr215=) c.741G= (p.Thr247=) n.1239G= c.378G= (p.Thr126=) c.681G= (p.Thr227=) c.393G= (p.Thr131=) c.828G= (p.Thr276=) | |
| 8 | g.71299129C>G | CA461327868 | EYA1 | c.744G>C (p.Thr248=) c.642G>C (p.Thr214=) c.729G>C (p.Thr243=) c.*23G>C (n.*23G>C) n.1207G>C c.*511G>C (n.*511G>C) c.831G>C (p.Thr277=) c.816G>C (p.Thr272=) c.813G>C (p.Thr271=) c.726G>C (p.Thr242=) c.645G>C (p.Thr215=) c.741G>C (p.Thr247=) n.1239G>C c.378G>C (p.Thr126=) c.681G>C (p.Thr227=) c.393G>C (p.Thr131=) c.828G>C (p.Thr276=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.71299129C>T | CA182648 | EYA1 | c.744G>A (p.Thr248=) c.642G>A (p.Thr214=) c.729G>A (p.Thr243=) c.*23G>A (n.*23G>A) n.1207G>A c.*511G>A (n.*511G>A) c.831G>A (p.Thr277=) c.816G>A (p.Thr272=) c.813G>A (p.Thr271=) c.726G>A (p.Thr242=) c.645G>A (p.Thr215=) c.741G>A (p.Thr247=) n.1239G>A c.378G>A (p.Thr126=) c.681G>A (p.Thr227=) c.393G>A (p.Thr131=) c.828G>A (p.Thr276=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.71299130G>A | CA4779675 | EYA1 | c.743C>T (p.Thr248Met) c.641C>T (p.Thr214Met) c.728C>T (p.Thr243Met) c.*22C>T (n.*22C>T) n.1206C>T c.*510C>T (n.*510C>T) c.830C>T (p.Thr277Met) c.815C>T (p.Thr272Met) c.812C>T (p.Thr271Met) c.725C>T (p.Thr242Met) c.644C>T (p.Thr215Met) c.740C>T (p.Thr247Met) n.1238C>T c.377C>T (p.Thr126Met) c.680C>T (p.Thr227Met) c.392C>T (p.Thr131Met) c.827C>T (p.Thr276Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.71299130G>C | CA371467241 | EYA1 | c.743C>G (p.Thr248Arg) c.641C>G (p.Thr214Arg) c.728C>G (p.Thr243Arg) c.*22C>G (n.*22C>G) n.1206C>G c.*510C>G (n.*510C>G) c.830C>G (p.Thr277Arg) c.815C>G (p.Thr272Arg) c.812C>G (p.Thr271Arg) c.725C>G (p.Thr242Arg) c.644C>G (p.Thr215Arg) c.740C>G (p.Thr247Arg) n.1238C>G c.377C>G (p.Thr126Arg) c.680C>G (p.Thr227Arg) c.392C>G (p.Thr131Arg) c.827C>G (p.Thr276Arg) | |
| 8 | g.71299130G= | CA1792728340 | EYA1 | c.743C= (p.Thr248=) c.641C= (p.Thr214=) c.728C= (p.Thr243=) c.*22C= (n.*22C=) n.1206C= c.*510C= (n.*510C=) c.830C= (p.Thr277=) c.815C= (p.Thr272=) c.812C= (p.Thr271=) c.725C= (p.Thr242=) c.644C= (p.Thr215=) c.740C= (p.Thr247=) n.1238C= c.377C= (p.Thr126=) c.680C= (p.Thr227=) c.392C= (p.Thr131=) c.827C= (p.Thr276=) | |
| 8 | g.71299130G>T | CA371467240 | EYA1 | c.743C>A (p.Thr248Lys) c.641C>A (p.Thr214Lys) c.728C>A (p.Thr243Lys) c.*22C>A (n.*22C>A) n.1206C>A c.*510C>A (n.*510C>A) c.830C>A (p.Thr277Lys) c.815C>A (p.Thr272Lys) c.812C>A (p.Thr271Lys) c.725C>A (p.Thr242Lys) c.644C>A (p.Thr215Lys) c.740C>A (p.Thr247Lys) n.1238C>A c.377C>A (p.Thr126Lys) c.680C>A (p.Thr227Lys) c.392C>A (p.Thr131Lys) c.827C>A (p.Thr276Lys) | |
| 8 | g.71299131T>A | CA371467242 | EYA1 | c.742A>T (p.Thr248Ser) c.640A>T (p.Thr214Ser) c.727A>T (p.Thr243Ser) c.*21A>T (n.*21A>T) n.1205A>T c.*509A>T (n.*509A>T) c.829A>T (p.Thr277Ser) c.814A>T (p.Thr272Ser) c.811A>T (p.Thr271Ser) c.724A>T (p.Thr242Ser) c.643A>T (p.Thr215Ser) c.739A>T (p.Thr247Ser) n.1237A>T c.376A>T (p.Thr126Ser) c.679A>T (p.Thr227Ser) c.391A>T (p.Thr131Ser) c.826A>T (p.Thr276Ser) | |
| 8 | g.71299131T>C | CA371467243 | EYA1 | c.742A>G (p.Thr248Ala) c.640A>G (p.Thr214Ala) c.727A>G (p.Thr243Ala) c.*21A>G (n.*21A>G) n.1205A>G c.*509A>G (n.*509A>G) c.829A>G (p.Thr277Ala) c.814A>G (p.Thr272Ala) c.811A>G (p.Thr271Ala) c.724A>G (p.Thr242Ala) c.643A>G (p.Thr215Ala) c.739A>G (p.Thr247Ala) n.1237A>G c.376A>G (p.Thr126Ala) c.679A>G (p.Thr227Ala) c.391A>G (p.Thr131Ala) c.826A>G (p.Thr276Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.71299131T>G | CA371467244 | EYA1 | c.742A>C (p.Thr248Pro) c.640A>C (p.Thr214Pro) c.727A>C (p.Thr243Pro) c.*21A>C (n.*21A>C) n.1205A>C c.*509A>C (n.*509A>C) c.829A>C (p.Thr277Pro) c.814A>C (p.Thr272Pro) c.811A>C (p.Thr271Pro) c.724A>C (p.Thr242Pro) c.643A>C (p.Thr215Pro) c.739A>C (p.Thr247Pro) n.1237A>C c.376A>C (p.Thr126Pro) c.679A>C (p.Thr227Pro) c.391A>C (p.Thr131Pro) c.826A>C (p.Thr276Pro) | |
| 8 | g.71299131T= | CA1792728341 | EYA1 | c.742A= (p.Thr248=) c.640A= (p.Thr214=) c.727A= (p.Thr243=) c.*21A= (n.*21A=) n.1205A= c.*509A= (n.*509A=) c.829A= (p.Thr277=) c.814A= (p.Thr272=) c.811A= (p.Thr271=) c.724A= (p.Thr242=) c.643A= (p.Thr215=) c.739A= (p.Thr247=) n.1237A= c.376A= (p.Thr126=) c.679A= (p.Thr227=) c.391A= (p.Thr131=) c.826A= (p.Thr276=) | |
| 8 | g.71299132T>A | CA461327869 | EYA1 | c.741A>T (p.Pro247=) c.639A>T (p.Pro213=) c.726A>T (p.Pro242=) c.*20A>T (n.*20A>T) n.1204A>T c.*508A>T (n.*508A>T) c.828A>T (p.Pro276=) c.813A>T (p.Pro271=) c.810A>T (p.Pro270=) c.723A>T (p.Pro241=) c.642A>T (p.Pro214=) c.738A>T (p.Pro246=) n.1236A>T c.375A>T (p.Pro125=) c.678A>T (p.Pro226=) c.390A>T (p.Pro130=) c.825A>T (p.Pro275=) | |
| 8 | g.71299132T>C | CA461327870 | EYA1 | c.741A>G (p.Pro247=) c.639A>G (p.Pro213=) c.726A>G (p.Pro242=) c.*20A>G (n.*20A>G) n.1204A>G c.*508A>G (n.*508A>G) c.828A>G (p.Pro276=) c.813A>G (p.Pro271=) c.810A>G (p.Pro270=) c.723A>G (p.Pro241=) c.642A>G (p.Pro214=) c.738A>G (p.Pro246=) n.1236A>G c.375A>G (p.Pro125=) c.678A>G (p.Pro226=) c.390A>G (p.Pro130=) c.825A>G (p.Pro275=) | |
| 8 | g.71299132T>G | CA461327871 | EYA1 | c.741A>C (p.Pro247=) c.639A>C (p.Pro213=) c.726A>C (p.Pro242=) c.*20A>C (n.*20A>C) n.1204A>C c.*508A>C (n.*508A>C) c.828A>C (p.Pro276=) c.813A>C (p.Pro271=) c.810A>C (p.Pro270=) c.723A>C (p.Pro241=) c.642A>C (p.Pro214=) c.738A>C (p.Pro246=) n.1236A>C c.375A>C (p.Pro125=) c.678A>C (p.Pro226=) c.390A>C (p.Pro130=) c.825A>C (p.Pro275=) | |
| 8 | g.71299133G>A | CA371467245 | EYA1 | c.740C>T (p.Pro247Leu) c.638C>T (p.Pro213Leu) c.725C>T (p.Pro242Leu) c.*19C>T (n.*19C>T) n.1203C>T c.*507C>T (n.*507C>T) c.827C>T (p.Pro276Leu) c.812C>T (p.Pro271Leu) c.809C>T (p.Pro270Leu) c.722C>T (p.Pro241Leu) c.641C>T (p.Pro214Leu) c.737C>T (p.Pro246Leu) n.1235C>T c.374C>T (p.Pro125Leu) c.677C>T (p.Pro226Leu) c.389C>T (p.Pro130Leu) c.824C>T (p.Pro275Leu) | |
| 8 | g.71299133G>C | CA371467246 | EYA1 | c.740C>G (p.Pro247Arg) c.638C>G (p.Pro213Arg) c.725C>G (p.Pro242Arg) c.*19C>G (n.*19C>G) n.1203C>G c.*507C>G (n.*507C>G) c.827C>G (p.Pro276Arg) c.812C>G (p.Pro271Arg) c.809C>G (p.Pro270Arg) c.722C>G (p.Pro241Arg) c.641C>G (p.Pro214Arg) c.737C>G (p.Pro246Arg) n.1235C>G c.374C>G (p.Pro125Arg) c.677C>G (p.Pro226Arg) c.389C>G (p.Pro130Arg) c.824C>G (p.Pro275Arg) | |
| 8 | g.71299133G>T | CA371467247 | EYA1 | c.740C>A (p.Pro247Gln) c.638C>A (p.Pro213Gln) c.725C>A (p.Pro242Gln) c.*19C>A (n.*19C>A) n.1203C>A c.*507C>A (n.*507C>A) c.827C>A (p.Pro276Gln) c.812C>A (p.Pro271Gln) c.809C>A (p.Pro270Gln) c.722C>A (p.Pro241Gln) c.641C>A (p.Pro214Gln) c.737C>A (p.Pro246Gln) n.1235C>A c.374C>A (p.Pro125Gln) c.677C>A (p.Pro226Gln) c.389C>A (p.Pro130Gln) c.824C>A (p.Pro275Gln) | |
| 8 | g.71299134G>A | CA371467248 | EYA1 | c.739C>T (p.Pro247Ser) c.637C>T (p.Pro213Ser) c.724C>T (p.Pro242Ser) c.*18C>T (n.*18C>T) n.1202C>T c.*506C>T (n.*506C>T) c.826C>T (p.Pro276Ser) c.811C>T (p.Pro271Ser) c.808C>T (p.Pro270Ser) c.721C>T (p.Pro241Ser) c.640C>T (p.Pro214Ser) c.736C>T (p.Pro246Ser) n.1234C>T c.373C>T (p.Pro125Ser) c.676C>T (p.Pro226Ser) c.388C>T (p.Pro130Ser) c.823C>T (p.Pro275Ser) | |
| 8 | g.71299134G>C | CA371467249 | EYA1 | c.739C>G (p.Pro247Ala) c.637C>G (p.Pro213Ala) c.724C>G (p.Pro242Ala) c.*18C>G (n.*18C>G) n.1202C>G c.*506C>G (n.*506C>G) c.826C>G (p.Pro276Ala) c.811C>G (p.Pro271Ala) c.808C>G (p.Pro270Ala) c.721C>G (p.Pro241Ala) c.640C>G (p.Pro214Ala) c.736C>G (p.Pro246Ala) n.1234C>G c.373C>G (p.Pro125Ala) c.676C>G (p.Pro226Ala) c.388C>G (p.Pro130Ala) c.823C>G (p.Pro275Ala) | |
| 8 | g.71299134G>T | CA371467250 | EYA1 | c.739C>A (p.Pro247Thr) c.637C>A (p.Pro213Thr) c.724C>A (p.Pro242Thr) c.*18C>A (n.*18C>A) n.1202C>A c.*506C>A (n.*506C>A) c.826C>A (p.Pro276Thr) c.811C>A (p.Pro271Thr) c.808C>A (p.Pro270Thr) c.721C>A (p.Pro241Thr) c.640C>A (p.Pro214Thr) c.736C>A (p.Pro246Thr) n.1234C>A c.373C>A (p.Pro125Thr) c.676C>A (p.Pro226Thr) c.388C>A (p.Pro130Thr) c.823C>A (p.Pro275Thr) | COSMIC COSMIC |
| 8 | g.71299135G>A | CA4779676 | EYA1 | c.738C>T (p.Ser246=) c.636C>T (p.Ser212=) c.723C>T (p.Ser241=) c.*17C>T (n.*17C>T) n.1201C>T c.*505C>T (n.*505C>T) c.825C>T (p.Ser275=) c.810C>T (p.Ser270=) c.807C>T (p.Ser269=) c.720C>T (p.Ser240=) c.639C>T (p.Ser213=) c.735C>T (p.Ser245=) n.1233C>T c.372C>T (p.Ser124=) c.675C>T (p.Ser225=) c.387C>T (p.Ser129=) c.822C>T (p.Ser274=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.71299135G>C | CA371467251 | EYA1 | c.738C>G (p.Ser246Arg) c.636C>G (p.Ser212Arg) c.723C>G (p.Ser241Arg) c.*17C>G (n.*17C>G) n.1201C>G c.*505C>G (n.*505C>G) c.825C>G (p.Ser275Arg) c.810C>G (p.Ser270Arg) c.807C>G (p.Ser269Arg) c.720C>G (p.Ser240Arg) c.639C>G (p.Ser213Arg) c.735C>G (p.Ser245Arg) n.1233C>G c.372C>G (p.Ser124Arg) c.675C>G (p.Ser225Arg) c.387C>G (p.Ser129Arg) c.822C>G (p.Ser274Arg) | |
| 8 | g.71299135G= | CA1792728342 | EYA1 | c.738C= (p.Ser246=) c.636C= (p.Ser212=) c.723C= (p.Ser241=) c.*17C= (n.*17C=) n.1201C= c.*505C= (n.*505C=) c.825C= (p.Ser275=) c.810C= (p.Ser270=) c.807C= (p.Ser269=) c.720C= (p.Ser240=) c.639C= (p.Ser213=) c.735C= (p.Ser245=) n.1233C= c.372C= (p.Ser124=) c.675C= (p.Ser225=) c.387C= (p.Ser129=) c.822C= (p.Ser274=) | |
| 8 | g.71299135G>T | CA371467252 | EYA1 | c.738C>A (p.Ser246Arg) c.636C>A (p.Ser212Arg) c.723C>A (p.Ser241Arg) c.*17C>A (n.*17C>A) n.1201C>A c.*505C>A (n.*505C>A) c.825C>A (p.Ser275Arg) c.810C>A (p.Ser270Arg) c.807C>A (p.Ser269Arg) c.720C>A (p.Ser240Arg) c.639C>A (p.Ser213Arg) c.735C>A (p.Ser245Arg) n.1233C>A c.372C>A (p.Ser124Arg) c.675C>A (p.Ser225Arg) c.387C>A (p.Ser129Arg) c.822C>A (p.Ser274Arg) | |
| 8 | g.71299136C>A | CA371467255 | EYA1 | c.737G>T (p.Ser246Ile) c.635G>T (p.Ser212Ile) c.722G>T (p.Ser241Ile) c.*16G>T (n.*16G>T) n.1200G>T c.*504G>T (n.*504G>T) c.824G>T (p.Ser275Ile) c.809G>T (p.Ser270Ile) c.806G>T (p.Ser269Ile) c.719G>T (p.Ser240Ile) c.638G>T (p.Ser213Ile) c.734G>T (p.Ser245Ile) n.1232G>T c.371G>T (p.Ser124Ile) c.674G>T (p.Ser225Ile) c.386G>T (p.Ser129Ile) c.821G>T (p.Ser274Ile) | |
| 8 | g.71299136C= | CA1792728343 | EYA1 | c.737G= (p.Ser246=) c.635G= (p.Ser212=) c.722G= (p.Ser241=) c.*16G= (n.*16G=) n.1200G= c.*504G= (n.*504G=) c.824G= (p.Ser275=) c.809G= (p.Ser270=) c.806G= (p.Ser269=) c.719G= (p.Ser240=) c.638G= (p.Ser213=) c.734G= (p.Ser245=) n.1232G= c.371G= (p.Ser124=) c.674G= (p.Ser225=) c.386G= (p.Ser129=) c.821G= (p.Ser274=) | |
| 8 | g.71299136C>G | CA371467254 | EYA1 | c.737G>C (p.Ser246Thr) c.635G>C (p.Ser212Thr) c.722G>C (p.Ser241Thr) c.*16G>C (n.*16G>C) n.1200G>C c.*504G>C (n.*504G>C) c.824G>C (p.Ser275Thr) c.809G>C (p.Ser270Thr) c.806G>C (p.Ser269Thr) c.719G>C (p.Ser240Thr) c.638G>C (p.Ser213Thr) c.734G>C (p.Ser245Thr) n.1232G>C c.371G>C (p.Ser124Thr) c.674G>C (p.Ser225Thr) c.386G>C (p.Ser129Thr) c.821G>C (p.Ser274Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.71299136C>T | CA371467253 | EYA1 | c.737G>A (p.Ser246Asn) c.635G>A (p.Ser212Asn) c.722G>A (p.Ser241Asn) c.*16G>A (n.*16G>A) n.1200G>A c.*504G>A (n.*504G>A) c.824G>A (p.Ser275Asn) c.809G>A (p.Ser270Asn) c.806G>A (p.Ser269Asn) c.719G>A (p.Ser240Asn) c.638G>A (p.Ser213Asn) c.734G>A (p.Ser245Asn) n.1232G>A c.371G>A (p.Ser124Asn) c.674G>A (p.Ser225Asn) c.386G>A (p.Ser129Asn) c.821G>A (p.Ser274Asn) | dbSNP |
| 8 | g.71299137T>A | CA371467256 | EYA1 | c.736A>T (p.Ser246Cys) c.634A>T (p.Ser212Cys) c.721A>T (p.Ser241Cys) c.*15A>T (n.*15A>T) n.1199A>T c.*503A>T (n.*503A>T) c.823A>T (p.Ser275Cys) c.808A>T (p.Ser270Cys) c.805A>T (p.Ser269Cys) c.718A>T (p.Ser240Cys) c.637A>T (p.Ser213Cys) c.733A>T (p.Ser245Cys) n.1231A>T c.370A>T (p.Ser124Cys) c.673A>T (p.Ser225Cys) c.385A>T (p.Ser129Cys) c.820A>T (p.Ser274Cys) | |
| 8 | g.71299137T>C | CA371467257 | EYA1 | c.736A>G (p.Ser246Gly) c.634A>G (p.Ser212Gly) c.721A>G (p.Ser241Gly) c.*15A>G (n.*15A>G) n.1199A>G c.*503A>G (n.*503A>G) c.823A>G (p.Ser275Gly) c.808A>G (p.Ser270Gly) c.805A>G (p.Ser269Gly) c.718A>G (p.Ser240Gly) c.637A>G (p.Ser213Gly) c.733A>G (p.Ser245Gly) n.1231A>G c.370A>G (p.Ser124Gly) c.673A>G (p.Ser225Gly) c.385A>G (p.Ser129Gly) c.820A>G (p.Ser274Gly) | |
| 8 | g.71299137T>G | CA371467258 | EYA1 | c.736A>C (p.Ser246Arg) c.634A>C (p.Ser212Arg) c.721A>C (p.Ser241Arg) c.*15A>C (n.*15A>C) n.1199A>C c.*503A>C (n.*503A>C) c.823A>C (p.Ser275Arg) c.808A>C (p.Ser270Arg) c.805A>C (p.Ser269Arg) c.718A>C (p.Ser240Arg) c.637A>C (p.Ser213Arg) c.733A>C (p.Ser245Arg) n.1231A>C c.370A>C (p.Ser124Arg) c.673A>C (p.Ser225Arg) c.385A>C (p.Ser129Arg) c.820A>C (p.Ser274Arg) | |
| 8 | g.71299138G>A | CA461327872 | EYA1 | c.735C>T (p.Thr245=) c.633C>T (p.Thr211=) c.720C>T (p.Thr240=) c.*14C>T (n.*14C>T) n.1198C>T c.*502C>T (n.*502C>T) c.822C>T (p.Thr274=) c.807C>T (p.Thr269=) c.804C>T (p.Thr268=) c.717C>T (p.Thr239=) c.636C>T (p.Thr212=) c.732C>T (p.Thr244=) n.1230C>T c.369C>T (p.Thr123=) c.672C>T (p.Thr224=) c.384C>T (p.Thr128=) c.819C>T (p.Thr273=) | |
| 8 | g.71299138G>C | CA461327873 | EYA1 | c.735C>G (p.Thr245=) c.633C>G (p.Thr211=) c.720C>G (p.Thr240=) c.*14C>G (n.*14C>G) n.1198C>G c.*502C>G (n.*502C>G) c.822C>G (p.Thr274=) c.807C>G (p.Thr269=) c.804C>G (p.Thr268=) c.717C>G (p.Thr239=) c.636C>G (p.Thr212=) c.732C>G (p.Thr244=) n.1230C>G c.369C>G (p.Thr123=) c.672C>G (p.Thr224=) c.384C>G (p.Thr128=) c.819C>G (p.Thr273=) | gnomAD v4 |
| 8 | g.71299138G= | CA1792728344 | EYA1 | c.735C= (p.Thr245=) c.633C= (p.Thr211=) c.720C= (p.Thr240=) c.*14C= (n.*14C=) n.1198C= c.*502C= (n.*502C=) c.822C= (p.Thr274=) c.807C= (p.Thr269=) c.804C= (p.Thr268=) c.717C= (p.Thr239=) c.636C= (p.Thr212=) c.732C= (p.Thr244=) n.1230C= c.369C= (p.Thr123=) c.672C= (p.Thr224=) c.384C= (p.Thr128=) c.819C= (p.Thr273=) | |
| 8 | g.71299138G>T | CA4779677 | EYA1 | c.735C>A (p.Thr245=) c.633C>A (p.Thr211=) c.720C>A (p.Thr240=) c.*14C>A (n.*14C>A) n.1198C>A c.*502C>A (n.*502C>A) c.822C>A (p.Thr274=) c.807C>A (p.Thr269=) c.804C>A (p.Thr268=) c.717C>A (p.Thr239=) c.636C>A (p.Thr212=) c.732C>A (p.Thr244=) n.1230C>A c.369C>A (p.Thr123=) c.672C>A (p.Thr224=) c.384C>A (p.Thr128=) c.819C>A (p.Thr273=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.71299139G>A | CA371467259 | EYA1 | c.734C>T (p.Thr245Ile) c.632C>T (p.Thr211Ile) c.719C>T (p.Thr240Ile) c.*13C>T (n.*13C>T) n.1197C>T c.*501C>T (n.*501C>T) c.821C>T (p.Thr274Ile) c.806C>T (p.Thr269Ile) c.803C>T (p.Thr268Ile) c.716C>T (p.Thr239Ile) c.635C>T (p.Thr212Ile) c.731C>T (p.Thr244Ile) n.1229C>T c.368C>T (p.Thr123Ile) c.671C>T (p.Thr224Ile) c.383C>T (p.Thr128Ile) c.818C>T (p.Thr273Ile) | |
| 8 | g.71299139G>C | CA371467260 | EYA1 | c.734C>G (p.Thr245Ser) c.632C>G (p.Thr211Ser) c.719C>G (p.Thr240Ser) c.*13C>G (n.*13C>G) n.1197C>G c.*501C>G (n.*501C>G) c.821C>G (p.Thr274Ser) c.806C>G (p.Thr269Ser) c.803C>G (p.Thr268Ser) c.716C>G (p.Thr239Ser) c.635C>G (p.Thr212Ser) c.731C>G (p.Thr244Ser) n.1229C>G c.368C>G (p.Thr123Ser) c.671C>G (p.Thr224Ser) c.383C>G (p.Thr128Ser) c.818C>G (p.Thr273Ser) | |
| 8 | g.71299139G>T | CA371467261 | EYA1 | c.734C>A (p.Thr245Asn) c.632C>A (p.Thr211Asn) c.719C>A (p.Thr240Asn) c.*13C>A (n.*13C>A) n.1197C>A c.*501C>A (n.*501C>A) c.821C>A (p.Thr274Asn) c.806C>A (p.Thr269Asn) c.803C>A (p.Thr268Asn) c.716C>A (p.Thr239Asn) c.635C>A (p.Thr212Asn) c.731C>A (p.Thr244Asn) n.1229C>A c.368C>A (p.Thr123Asn) c.671C>A (p.Thr224Asn) c.383C>A (p.Thr128Asn) c.818C>A (p.Thr273Asn) | gnomAD v4 |
| 8 | g.71299140T>A | CA371467262 | EYA1 | c.733A>T (p.Thr245Ser) c.631A>T (p.Thr211Ser) c.718A>T (p.Thr240Ser) c.*12A>T (n.*12A>T) n.1196A>T c.*500A>T (n.*500A>T) c.820A>T (p.Thr274Ser) c.805A>T (p.Thr269Ser) c.802A>T (p.Thr268Ser) c.715A>T (p.Thr239Ser) c.634A>T (p.Thr212Ser) c.730A>T (p.Thr244Ser) n.1228A>T c.367A>T (p.Thr123Ser) c.670A>T (p.Thr224Ser) c.382A>T (p.Thr128Ser) c.817A>T (p.Thr273Ser) | |
| 8 | g.71299140T>C | CA371467263 | EYA1 | c.733A>G (p.Thr245Ala) c.631A>G (p.Thr211Ala) c.718A>G (p.Thr240Ala) c.*12A>G (n.*12A>G) n.1196A>G c.*500A>G (n.*500A>G) c.820A>G (p.Thr274Ala) c.805A>G (p.Thr269Ala) c.802A>G (p.Thr268Ala) c.715A>G (p.Thr239Ala) c.634A>G (p.Thr212Ala) c.730A>G (p.Thr244Ala) n.1228A>G c.367A>G (p.Thr123Ala) c.670A>G (p.Thr224Ala) c.382A>G (p.Thr128Ala) c.817A>G (p.Thr273Ala) | gnomAD v4 |
| 8 | g.71299140T>G | CA371467264 | EYA1 | c.733A>C (p.Thr245Pro) c.631A>C (p.Thr211Pro) c.718A>C (p.Thr240Pro) c.*12A>C (n.*12A>C) n.1196A>C c.*500A>C (n.*500A>C) c.820A>C (p.Thr274Pro) c.805A>C (p.Thr269Pro) c.802A>C (p.Thr268Pro) c.715A>C (p.Thr239Pro) c.634A>C (p.Thr212Pro) c.730A>C (p.Thr244Pro) n.1228A>C c.367A>C (p.Thr123Pro) c.670A>C (p.Thr224Pro) c.382A>C (p.Thr128Pro) c.817A>C (p.Thr273Pro) | dbSNP |
| 8 | g.71299140T= | CA1792728345 | EYA1 | c.733A= (p.Thr245=) c.631A= (p.Thr211=) c.718A= (p.Thr240=) c.*12A= (n.*12A=) n.1196A= c.*500A= (n.*500A=) c.820A= (p.Thr274=) c.805A= (p.Thr269=) c.802A= (p.Thr268=) c.715A= (p.Thr239=) c.634A= (p.Thr212=) c.730A= (p.Thr244=) n.1228A= c.367A= (p.Thr123=) c.670A= (p.Thr224=) c.382A= (p.Thr128=) c.817A= (p.Thr273=) | |
| 8 | g.71299141G>A | CA461327874 | EYA1 | c.732C>T (p.Asn244=) c.630C>T (p.Asn210=) c.717C>T (p.Asn239=) c.*11C>T (n.*11C>T) n.1195C>T c.*499C>T (n.*499C>T) c.819C>T (p.Asn273=) c.804C>T (p.Asn268=) c.801C>T (p.Asn267=) c.714C>T (p.Asn238=) c.633C>T (p.Asn211=) c.729C>T (p.Asn243=) n.1227C>T c.366C>T (p.Asn122=) c.669C>T (p.Asn223=) c.381C>T (p.Asn127=) c.816C>T (p.Asn272=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.71299141G>C | CA371467265 | EYA1 | c.732C>G (p.Asn244Lys) c.630C>G (p.Asn210Lys) c.717C>G (p.Asn239Lys) c.*11C>G (n.*11C>G) n.1195C>G c.*499C>G (n.*499C>G) c.819C>G (p.Asn273Lys) c.804C>G (p.Asn268Lys) c.801C>G (p.Asn267Lys) c.714C>G (p.Asn238Lys) c.633C>G (p.Asn211Lys) c.729C>G (p.Asn243Lys) n.1227C>G c.366C>G (p.Asn122Lys) c.669C>G (p.Asn223Lys) c.381C>G (p.Asn127Lys) c.816C>G (p.Asn272Lys) | |
| 8 | g.71299141G= | CA1792728346 | EYA1 | c.732C= (p.Asn244=) c.630C= (p.Asn210=) c.717C= (p.Asn239=) c.*11C= (n.*11C=) n.1195C= c.*499C= (n.*499C=) c.819C= (p.Asn273=) c.804C= (p.Asn268=) c.801C= (p.Asn267=) c.714C= (p.Asn238=) c.633C= (p.Asn211=) c.729C= (p.Asn243=) n.1227C= c.366C= (p.Asn122=) c.669C= (p.Asn223=) c.381C= (p.Asn127=) c.816C= (p.Asn272=) | |
| 8 | g.71299141G>T | CA371467266 | EYA1 | c.732C>A (p.Asn244Lys) c.630C>A (p.Asn210Lys) c.717C>A (p.Asn239Lys) c.*11C>A (n.*11C>A) n.1195C>A c.*499C>A (n.*499C>A) c.819C>A (p.Asn273Lys) c.804C>A (p.Asn268Lys) c.801C>A (p.Asn267Lys) c.714C>A (p.Asn238Lys) c.633C>A (p.Asn211Lys) c.729C>A (p.Asn243Lys) n.1227C>A c.366C>A (p.Asn122Lys) c.669C>A (p.Asn223Lys) c.381C>A (p.Asn127Lys) c.816C>A (p.Asn272Lys) | |
| 8 | g.71299142T>A | CA371467267 | EYA1 | c.731A>T (p.Asn244Ile) c.629A>T (p.Asn210Ile) c.716A>T (p.Asn239Ile) c.*10A>T (n.*10A>T) n.1194A>T c.*498A>T (n.*498A>T) c.818A>T (p.Asn273Ile) c.803A>T (p.Asn268Ile) c.800A>T (p.Asn267Ile) c.713A>T (p.Asn238Ile) c.632A>T (p.Asn211Ile) c.728A>T (p.Asn243Ile) n.1226A>T c.365A>T (p.Asn122Ile) c.668A>T (p.Asn223Ile) c.380A>T (p.Asn127Ile) c.815A>T (p.Asn272Ile) | |
| 8 | g.71299142T>C | CA371467269 | EYA1 | c.731A>G (p.Asn244Ser) c.629A>G (p.Asn210Ser) c.716A>G (p.Asn239Ser) c.*10A>G (n.*10A>G) n.1194A>G c.*498A>G (n.*498A>G) c.818A>G (p.Asn273Ser) c.803A>G (p.Asn268Ser) c.800A>G (p.Asn267Ser) c.713A>G (p.Asn238Ser) c.632A>G (p.Asn211Ser) c.728A>G (p.Asn243Ser) n.1226A>G c.365A>G (p.Asn122Ser) c.668A>G (p.Asn223Ser) c.380A>G (p.Asn127Ser) c.815A>G (p.Asn272Ser) | |
| 8 | g.71299142T>G | CA371467268 | EYA1 | c.731A>C (p.Asn244Thr) c.629A>C (p.Asn210Thr) c.716A>C (p.Asn239Thr) c.*10A>C (n.*10A>C) n.1194A>C c.*498A>C (n.*498A>C) c.818A>C (p.Asn273Thr) c.803A>C (p.Asn268Thr) c.800A>C (p.Asn267Thr) c.713A>C (p.Asn238Thr) c.632A>C (p.Asn211Thr) c.728A>C (p.Asn243Thr) n.1226A>C c.365A>C (p.Asn122Thr) c.668A>C (p.Asn223Thr) c.380A>C (p.Asn127Thr) c.815A>C (p.Asn272Thr) |