| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.29702923G>A | CA9351912 | C19orf12 | c.215C>T (p.Pro72Leu) c.*129C>T (n.*129C>T) n.606C>T c.23C>T (p.Pro8Leu) c.248C>T (p.Pro83Leu) c.377C>T (p.Pro126Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.29702923G>C | CA405143256 | C19orf12 | c.215C>G (p.Pro72Arg) c.*129C>G (n.*129C>G) n.606C>G c.23C>G (p.Pro8Arg) c.248C>G (p.Pro83Arg) c.377C>G (p.Pro126Arg) | |
| 19 | g.29702923G= | CA2330913613 | C19orf12 | c.215C= (p.Pro72=) c.*129C= (n.*129C=) n.606C= c.23C= (p.Pro8=) c.248C= (p.Pro83=) c.377C= (p.Pro126=) | |
| 19 | g.29702923G>T | CA405143257 | C19orf12 | c.215C>A (p.Pro72Gln) c.*129C>A (n.*129C>A) n.606C>A c.23C>A (p.Pro8Gln) c.248C>A (p.Pro83Gln) c.377C>A (p.Pro126Gln) | ClinVar |
| 19 | g.29702924G>A | CA405143263 | C19orf12 | c.214C>T (p.Pro72Ser) c.*128C>T (n.*128C>T) n.605C>T c.22C>T (p.Pro8Ser) c.247C>T (p.Pro83Ser) c.376C>T (p.Pro126Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.29702924G>C | CA405143260 | C19orf12 | c.214C>G (p.Pro72Ala) c.*128C>G (n.*128C>G) n.605C>G c.22C>G (p.Pro8Ala) c.247C>G (p.Pro83Ala) c.376C>G (p.Pro126Ala) | |
| 19 | g.29702924G= | CA2330913614 | C19orf12 | c.214C= (p.Pro72=) c.*128C= (n.*128C=) n.605C= c.22C= (p.Pro8=) c.247C= (p.Pro83=) c.376C= (p.Pro126=) | |
| 19 | g.29702924G>T | CA405143259 | C19orf12 | c.214C>A (p.Pro72Thr) c.*128C>A (n.*128C>A) n.605C>A c.22C>A (p.Pro8Thr) c.247C>A (p.Pro83Thr) c.376C>A (p.Pro126Thr) | |
| 19 | g.29702925C>A | CA405143267 | C19orf12 | c.213G>T (p.Lys71Asn) c.*127G>T (n.*127G>T) n.604G>T c.21G>T (p.Lys7Asn) c.246G>T (p.Lys82Asn) c.375G>T (p.Lys125Asn) | |
| 19 | g.29702925C= | CA2330913615 | C19orf12 | c.213G= (p.Lys71=) c.*127G= (n.*127G=) n.604G= c.21G= (p.Lys7=) c.246G= (p.Lys82=) c.375G= (p.Lys125=) | |
| 19 | g.29702925C>G | CA405143273 | C19orf12 | c.213G>C (p.Lys71Asn) c.*127G>C (n.*127G>C) n.604G>C c.21G>C (p.Lys7Asn) c.246G>C (p.Lys82Asn) c.375G>C (p.Lys125Asn) | |
| 19 | g.29702925C>T | CA506988180 | C19orf12 | c.213G>A (p.Lys71=) c.*127G>A (n.*127G>A) n.604G>A c.21G>A (p.Lys7=) c.246G>A (p.Lys82=) c.375G>A (p.Lys125=) | gnomAD v4 |
| 19 | g.29702926T>A | CA405143275 | C19orf12 | c.212A>T (p.Lys71Met) c.*126A>T (n.*126A>T) n.603A>T c.20A>T (p.Lys7Met) c.245A>T (p.Lys82Met) c.374A>T (p.Lys125Met) | |
| 19 | g.29702926T>C | CA9351913 | C19orf12 | c.212A>G (p.Lys71Arg) c.*126A>G (n.*126A>G) n.603A>G c.20A>G (p.Lys7Arg) c.245A>G (p.Lys82Arg) c.374A>G (p.Lys125Arg) | dbSNP ExAC gnomAD v2 |
| 19 | g.29702926T>G | CA405143279 | C19orf12 | c.212A>C (p.Lys71Thr) c.*126A>C (n.*126A>C) n.603A>C c.20A>C (p.Lys7Thr) c.245A>C (p.Lys82Thr) c.374A>C (p.Lys125Thr) | |
| 19 | g.29702926T= | CA2330913616 | C19orf12 | c.212A= (p.Lys71=) c.*126A= (n.*126A=) n.603A= c.20A= (p.Lys7=) c.245A= (p.Lys82=) c.374A= (p.Lys125=) | |
| 19 | g.29702926_29702927dup | CA1139666389 | C19orf12 | c.211_212dup (p.Pro72SerfsTer7) c.*125_*126dup (n.*125_*126dup) n.602_603dup c.19_20dup (p.Pro8SerfsTer7) c.244_245dup (p.Pro83SerfsTer7) c.373_374dup (p.Pro126SerfsTer7) | ClinVar dbSNP |
| 19 | g.29702927T>A | CA405143281 | C19orf12 | c.211A>T (p.Lys71Ter) c.*125A>T (n.*125A>T) n.602A>T c.19A>T (p.Lys7Ter) c.244A>T (p.Lys82Ter) c.373A>T (p.Lys125Ter) | |
| 19 | g.29702927T>C | CA405143284 | C19orf12 | c.211A>G (p.Lys71Glu) c.*125A>G (n.*125A>G) n.602A>G c.19A>G (p.Lys7Glu) c.244A>G (p.Lys82Glu) c.373A>G (p.Lys125Glu) | |
| 19 | g.29702927T>G | CA405143285 | C19orf12 | c.211A>C (p.Lys71Gln) c.*125A>C (n.*125A>C) n.602A>C c.19A>C (p.Lys7Gln) c.244A>C (p.Lys82Gln) c.373A>C (p.Lys125Gln) | |
| 19 | g.29702928A>C | CA405143289 | C19orf12 | c.210T>G (p.Phe70Leu) c.*124T>G (n.*124T>G) n.601T>G c.18T>G (p.Phe6Leu) c.243T>G (p.Phe81Leu) c.372T>G (p.Phe124Leu) | |
| 19 | g.29702928A>G | CA506988194 | C19orf12 | c.210T>C (p.Phe70=) c.*124T>C (n.*124T>C) n.601T>C c.18T>C (p.Phe6=) c.243T>C (p.Phe81=) c.372T>C (p.Phe124=) | |
| 19 | g.29702928A>T | CA405143293 | C19orf12 | c.210T>A (p.Phe70Leu) c.*124T>A (n.*124T>A) n.601T>A c.18T>A (p.Phe6Leu) c.243T>A (p.Phe81Leu) c.372T>A (p.Phe124Leu) | |
| 19 | g.29702930del | CA2580096778 | C19orf12 | c.210del (p.Phe70LeufsTer8) c.*124del (n.*124del) n.601del c.18del (p.Phe6LeufsTer8) c.243del (p.Phe81LeufsTer8) c.372del (p.Phe124LeufsTer8) | ClinVar |
| 19 | g.29702929A>C | CA405143296 | C19orf12 | c.209T>G (p.Phe70Cys) c.*123T>G (n.*123T>G) n.600T>G c.17T>G (p.Phe6Cys) c.242T>G (p.Phe81Cys) c.371T>G (p.Phe124Cys) | |
| 19 | g.29702929A>G | CA405143298 | C19orf12 | c.209T>C (p.Phe70Ser) c.*123T>C (n.*123T>C) n.600T>C c.17T>C (p.Phe6Ser) c.242T>C (p.Phe81Ser) c.371T>C (p.Phe124Ser) | |
| 19 | g.29702929A>T | CA405143299 | C19orf12 | c.209T>A (p.Phe70Tyr) c.*123T>A (n.*123T>A) n.600T>A c.17T>A (p.Phe6Tyr) c.242T>A (p.Phe81Tyr) c.371T>A (p.Phe124Tyr) | |
| 19 | g.29702930A>C | CA405143303 | C19orf12 | c.208T>G (p.Phe70Val) c.*122T>G (n.*122T>G) n.599T>G c.16T>G (p.Phe6Val) c.241T>G (p.Phe81Val) c.370T>G (p.Phe124Val) | |
| 19 | g.29702930A>G | CA405143302 | C19orf12 | c.208T>C (p.Phe70Leu) c.*122T>C (n.*122T>C) n.599T>C c.16T>C (p.Phe6Leu) c.241T>C (p.Phe81Leu) c.370T>C (p.Phe124Leu) | |
| 19 | g.29702930A>T | CA405143301 | C19orf12 | c.208T>A (p.Phe70Ile) c.*122T>A (n.*122T>A) n.599T>A c.16T>A (p.Phe6Ile) c.241T>A (p.Phe81Ile) c.370T>A (p.Phe124Ile) | |
| 19 | g.29702931C>A | CA405143304 | C19orf12 | c.207G>T (p.Gln69His) c.*121G>T (n.*121G>T) n.598G>T c.15G>T (p.Gln5His) c.240G>T (p.Gln80His) c.369G>T (p.Gln123His) | |
| 19 | g.29702931C= | CA2330913617 | C19orf12 | c.207G= (p.Gln69=) c.*121G= (n.*121G=) n.598G= c.15G= (p.Gln5=) c.240G= (p.Gln80=) c.369G= (p.Gln123=) | |
| 19 | g.29702931C>G | CA9351914 | C19orf12 | c.207G>C (p.Gln69His) c.*121G>C (n.*121G>C) n.598G>C c.15G>C (p.Gln5His) c.240G>C (p.Gln80His) c.369G>C (p.Gln123His) | ClinVar dbSNP ExAC gnomAD v2 |
| 19 | g.29702931C>T | CA506988211 | C19orf12 | c.207G>A (p.Gln69=) c.*121G>A (n.*121G>A) n.598G>A c.15G>A (p.Gln5=) c.240G>A (p.Gln80=) c.369G>A (p.Gln123=) | |
| 19 | g.29702932T>A | CA405143305 | C19orf12 | c.206A>T (p.Gln69Leu) c.*120A>T (n.*120A>T) n.597A>T c.14A>T (p.Gln5Leu) c.239A>T (p.Gln80Leu) c.368A>T (p.Gln123Leu) | gnomAD v4 |
| 19 | g.29702932T>C | CA405143307 | C19orf12 | c.206A>G (p.Gln69Arg) c.*120A>G (n.*120A>G) n.597A>G c.14A>G (p.Gln5Arg) c.239A>G (p.Gln80Arg) c.368A>G (p.Gln123Arg) | |
| 19 | g.29702932T>G | CA405143308 | C19orf12 | c.206A>C (p.Gln69Pro) c.*120A>C (n.*120A>C) n.597A>C c.14A>C (p.Gln5Pro) c.239A>C (p.Gln80Pro) c.368A>C (p.Gln123Pro) | |
| 19 | g.29702933G>A | CA16621727 | C19orf12 | c.205C>T (p.Gln69Ter) c.*119C>T (n.*119C>T) n.596C>T c.13C>T (p.Gln5Ter) c.238C>T (p.Gln80Ter) c.367C>T (p.Gln123Ter) | ClinVar dbSNP |
| 19 | g.29702933G>C | CA405143310 | C19orf12 | c.205C>G (p.Gln69Glu) c.*119C>G (n.*119C>G) n.596C>G c.13C>G (p.Gln5Glu) c.238C>G (p.Gln80Glu) c.367C>G (p.Gln123Glu) | |
| 19 | g.29702933G= | CA2330913618 | C19orf12 | c.205C= (p.Gln69=) c.*119C= (n.*119C=) n.596C= c.13C= (p.Gln5=) c.238C= (p.Gln80=) c.367C= (p.Gln123=) | |
| 19 | g.29702933G>T | CA405143311 | C19orf12 | c.205C>A (p.Gln69Lys) c.*119C>A (n.*119C>A) n.596C>A c.13C>A (p.Gln5Lys) c.238C>A (p.Gln80Lys) c.367C>A (p.Gln123Lys) | |
| 19 | g.29702933_29702944delinsGTCCACTTGTCA | CA2330913619 | C19orf12 | c.194_205delinsTGACAAGTGGAC (p.Met65=) c.*108_*119delinsTGACAAGTGGAC (n.*108_*119delinsTGACAAGTGGAC) n.585_596delinsTGACAAGTGGAC c.2_13delinsTGACAAGTGGAC (p.Met1=) c.227_238delinsTGACAAGTGGAC (p.Met76=) c.356_367delinsTGACAAGTGGAC (p.Met119=) | |
| 19 | g.29702934T>A | CA506988225 | C19orf12 | c.204A>T (p.Gly68=) c.*118A>T (n.*118A>T) n.595A>T c.12A>T (p.Gly4=) c.237A>T (p.Gly79=) c.366A>T (p.Gly122=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.29702934T>C | CA506988227 | C19orf12 | c.204A>G (p.Gly68=) c.*118A>G (n.*118A>G) n.595A>G c.12A>G (p.Gly4=) c.237A>G (p.Gly79=) c.366A>G (p.Gly122=) | COSMIC COSMIC |
| 19 | g.29702934T>G | CA506988228 | C19orf12 | c.204A>C (p.Gly68=) c.*118A>C (n.*118A>C) n.595A>C c.12A>C (p.Gly4=) c.237A>C (p.Gly79=) c.366A>C (p.Gly122=) | |
| 19 | g.29702934T= | CA2330913620 | C19orf12 | c.204A= (p.Gly68=) c.*118A= (n.*118A=) n.595A= c.12A= (p.Gly4=) c.237A= (p.Gly79=) c.366A= (p.Gly122=) | |
| 19 | g.29702938_29702948del | CA915952935 | C19orf12 | c.194_204del (p.Met65ThrfsTer3) c.*108_*118del (n.*108_*118del) n.585_595del c.2_12del (p.Met1ThrfsTer3) c.227_237del (p.Met76ThrfsTer3) c.356_366del (p.Met119ThrfsTer3) | ClinVar dbSNP |
| 19 | g.29702935C>A | CA405143312 | C19orf12 | c.203G>T (p.Gly68Val) c.*117G>T (n.*117G>T) n.594G>T c.11G>T (p.Gly4Val) c.236G>T (p.Gly79Val) c.365G>T (p.Gly122Val) | |
| 19 | g.29702935C>G | CA405143313 | C19orf12 | c.203G>C (p.Gly68Ala) c.*117G>C (n.*117G>C) n.594G>C c.11G>C (p.Gly4Ala) c.236G>C (p.Gly79Ala) c.365G>C (p.Gly122Ala) | |
| 19 | g.29702935C>T | CA405143315 | C19orf12 | c.203G>A (p.Gly68Glu) c.*117G>A (n.*117G>A) n.594G>A c.11G>A (p.Gly4Glu) c.236G>A (p.Gly79Glu) c.365G>A (p.Gly122Glu) |