| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36245961_36246193delinsCTA | CA2573144542 | CLTA,GNE | c.547_709+70delinsTAG c.277_439+70delinsTAG c.454_616+70delinsTAG c.486-17237_486-17005delinsCTA (n.486-17237_486-17005delinsCTA) c.439_601+70delinsTAG | ClinVar dbSNP |
| 9 | g.36246111A>C | CA373418243 | CLTA,GNE | c.629T>G (p.Leu210Arg) c.359T>G (p.Leu120Arg) c.536T>G (p.Leu179Arg) c.486-17087A>C (n.486-17087A>C) c.521T>G (p.Leu174Arg) | |
| 9 | g.36246111A>G | CA373418245 | CLTA,GNE | c.629T>C (p.Leu210Pro) c.359T>C (p.Leu120Pro) c.536T>C (p.Leu179Pro) c.486-17087A>G (n.486-17087A>G) c.521T>C (p.Leu174Pro) | |
| 9 | g.36246111A>T | CA373418246 | CLTA,GNE | c.629T>A (p.Leu210His) c.359T>A (p.Leu120His) c.536T>A (p.Leu179His) c.486-17087A>T (n.486-17087A>T) c.521T>A (p.Leu174His) | |
| 9 | g.36246112G>A | CA373418248 | CLTA,GNE | c.628C>T (p.Leu210Phe) c.358C>T (p.Leu120Phe) c.535C>T (p.Leu179Phe) c.486-17086G>A (n.486-17086G>A) c.520C>T (p.Leu174Phe) | gnomAD v4 |
| 9 | g.36246112G>C | CA373418250 | CLTA,GNE | c.628C>G (p.Leu210Val) c.358C>G (p.Leu120Val) c.535C>G (p.Leu179Val) c.486-17086G>C (n.486-17086G>C) c.520C>G (p.Leu174Val) | |
| 9 | g.36246112G>T | CA373418252 | CLTA,GNE | c.628C>A (p.Leu210Ile) c.358C>A (p.Leu120Ile) c.535C>A (p.Leu179Ile) c.486-17086G>T (n.486-17086G>T) c.520C>A (p.Leu174Ile) | |
| 9 | g.36246113G>A | CA464619768 | CLTA,GNE | c.627C>T (p.Ile209=) c.357C>T (p.Ile119=) c.534C>T (p.Ile178=) c.486-17085G>A (n.486-17085G>A) c.519C>T (p.Ile173=) | |
| 9 | g.36246113G>C | CA373418254 | CLTA,GNE | c.627C>G (p.Ile209Met) c.357C>G (p.Ile119Met) c.534C>G (p.Ile178Met) c.486-17085G>C (n.486-17085G>C) c.519C>G (p.Ile173Met) | |
| 9 | g.36246113G>T | CA464619770 | CLTA,GNE | c.627C>A (p.Ile209=) c.357C>A (p.Ile119=) c.534C>A (p.Ile178=) c.486-17085G>T (n.486-17085G>T) c.519C>A (p.Ile173=) | |
| 9 | g.36246114A>C | CA373418257 | CLTA,GNE | c.626T>G (p.Ile209Ser) c.356T>G (p.Ile119Ser) c.533T>G (p.Ile178Ser) c.486-17084A>C (n.486-17084A>C) c.518T>G (p.Ile173Ser) | |
| 9 | g.36246114A>G | CA373418258 | CLTA,GNE | c.626T>C (p.Ile209Thr) c.356T>C (p.Ile119Thr) c.533T>C (p.Ile178Thr) c.486-17084A>G (n.486-17084A>G) c.518T>C (p.Ile173Thr) | |
| 9 | g.36246114A>T | CA373418260 | CLTA,GNE | c.626T>A (p.Ile209Asn) c.356T>A (p.Ile119Asn) c.533T>A (p.Ile178Asn) c.486-17084A>T (n.486-17084A>T) c.518T>A (p.Ile173Asn) | |
| 9 | g.36246115T>A | CA373418262 | CLTA,GNE | c.625A>T (p.Ile209Phe) c.355A>T (p.Ile119Phe) c.532A>T (p.Ile178Phe) c.486-17083T>A (n.486-17083T>A) c.517A>T (p.Ile173Phe) | |
| 9 | g.36246115T>C | CA373418265 | CLTA,GNE | c.625A>G (p.Ile209Val) c.355A>G (p.Ile119Val) c.532A>G (p.Ile178Val) c.486-17083T>C (n.486-17083T>C) c.517A>G (p.Ile173Val) | |
| 9 | g.36246115T>G | CA373418263 | CLTA,GNE | c.625A>C (p.Ile209Leu) c.355A>C (p.Ile119Leu) c.532A>C (p.Ile178Leu) c.486-17083T>G (n.486-17083T>G) c.517A>C (p.Ile173Leu) | |
| 9 | g.36246116G>A | CA5056714 | CLTA,GNE | c.624C>T (p.Arg208=) c.354C>T (p.Arg118=) c.531C>T (p.Arg177=) c.486-17082G>A (n.486-17082G>A) c.516C>T (p.Arg172=) | dbSNP ExAC gnomAD v2 |
| 9 | g.36246116G>C | CA464619776 | CLTA,GNE | c.624C>G (p.Arg208=) c.354C>G (p.Arg118=) c.531C>G (p.Arg177=) c.486-17082G>C (n.486-17082G>C) c.516C>G (p.Arg172=) | |
| 9 | g.36246116G= | CA1846375216 | CLTA,GNE | c.624C= (p.Arg208=) c.354C= (p.Arg118=) c.531C= (p.Arg177=) c.486-17082G= (n.486-17082G=) c.516C= (p.Arg172=) | |
| 9 | g.36246116G>T | CA464619778 | CLTA,GNE | c.624C>A (p.Arg208=) c.354C>A (p.Arg118=) c.531C>A (p.Arg177=) c.486-17082G>T (n.486-17082G>T) c.516C>A (p.Arg172=) | |
| 9 | g.36246117C>A | CA373418272 | CLTA,GNE | c.623G>T (p.Arg208Leu) c.353G>T (p.Arg118Leu) c.530G>T (p.Arg177Leu) c.486-17081C>A (n.486-17081C>A) c.515G>T (p.Arg172Leu) | |
| 9 | g.36246117C= | CA1846375221 | CLTA,GNE | c.623G= (p.Arg208=) c.353G= (p.Arg118=) c.530G= (p.Arg177=) c.486-17081C= (n.486-17081C=) c.515G= (p.Arg172=) | |
| 9 | g.36246117C>G | CA373418269 | CLTA,GNE | c.623G>C (p.Arg208Pro) c.353G>C (p.Arg118Pro) c.530G>C (p.Arg177Pro) c.486-17081C>G (n.486-17081C>G) c.515G>C (p.Arg172Pro) | |
| 9 | g.36246117C>T | CA5056715 | CLTA,GNE | c.623G>A (p.Arg208His) c.353G>A (p.Arg118His) c.530G>A (p.Arg177His) c.486-17081C>T (n.486-17081C>T) c.515G>A (p.Arg172His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 9 | g.36246118G>A | CA5056716 | CLTA,GNE | c.622C>T (p.Arg208Cys) c.352C>T (p.Arg118Cys) c.529C>T (p.Arg177Cys) c.486-17080G>A (n.486-17080G>A) c.514C>T (p.Arg172Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 9 | g.36246118G>C | CA373418276 | CLTA,GNE | c.622C>G (p.Arg208Gly) c.352C>G (p.Arg118Gly) c.529C>G (p.Arg177Gly) c.486-17080G>C (n.486-17080G>C) c.514C>G (p.Arg172Gly) | gnomAD v4 |
| 9 | g.36246118G= | CA1846375231 | CLTA,GNE | c.622C= (p.Arg208=) c.352C= (p.Arg118=) c.529C= (p.Arg177=) c.486-17080G= (n.486-17080G=) c.514C= (p.Arg172=) | |
| 9 | g.36246118G>T | CA373418278 | CLTA,GNE | c.622C>A (p.Arg208Ser) c.352C>A (p.Arg118Ser) c.529C>A (p.Arg177Ser) c.486-17080G>T (n.486-17080G>T) c.514C>A (p.Arg172Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.36246119A>C | CA373418280 | CLTA,GNE | c.621T>G (p.Asp207Glu) c.351T>G (p.Asp117Glu) c.528T>G (p.Asp176Glu) c.486-17079A>C (n.486-17079A>C) c.513T>G (p.Asp171Glu) | |
| 9 | g.36246119A>G | CA464619782 | CLTA,GNE | c.621T>C (p.Asp207=) c.351T>C (p.Asp117=) c.528T>C (p.Asp176=) c.486-17079A>G (n.486-17079A>G) c.513T>C (p.Asp171=) | |
| 9 | g.36246119A>T | CA373418282 | CLTA,GNE | c.621T>A (p.Asp207Glu) c.351T>A (p.Asp117Glu) c.528T>A (p.Asp176Glu) c.486-17079A>T (n.486-17079A>T) c.513T>A (p.Asp171Glu) | COSMIC COSMIC COSMIC |
| 9 | g.36246120T>A | CA344238 | CLTA,GNE | c.620A>T (p.Asp207Val) c.350A>T (p.Asp117Val) c.527A>T (p.Asp176Val) c.486-17078T>A (n.486-17078T>A) c.512A>T (p.Asp171Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.36246120T>C | CA373418286 | CLTA,GNE | c.620A>G (p.Asp207Gly) c.350A>G (p.Asp117Gly) c.527A>G (p.Asp176Gly) c.486-17078T>C (n.486-17078T>C) c.512A>G (p.Asp171Gly) | gnomAD v4 |
| 9 | g.36246120T>G | CA373418288 | CLTA,GNE | c.620A>C (p.Asp207Ala) c.350A>C (p.Asp117Ala) c.527A>C (p.Asp176Ala) c.486-17078T>G (n.486-17078T>G) c.512A>C (p.Asp171Ala) | |
| 9 | g.36246120T= | CA1846375234 | CLTA,GNE | c.620A= (p.Asp207=) c.350A= (p.Asp117=) c.527A= (p.Asp176=) c.486-17078T= (n.486-17078T=) c.512A= (p.Asp171=) | |
| 9 | g.36246121C>A | CA373418290 | CLTA,GNE | c.619G>T (p.Asp207Tyr) c.349G>T (p.Asp117Tyr) c.526G>T (p.Asp176Tyr) c.486-17077C>A (n.486-17077C>A) c.511G>T (p.Asp171Tyr) | |
| 9 | g.36246121C= | CA1846375240 | CLTA,GNE | c.619G= (p.Asp207=) c.349G= (p.Asp117=) c.526G= (p.Asp176=) c.486-17077C= (n.486-17077C=) c.511G= (p.Asp171=) | |
| 9 | g.36246121C>G | CA373418291 | CLTA,GNE | c.619G>C (p.Asp207His) c.349G>C (p.Asp117His) c.526G>C (p.Asp176His) c.486-17077C>G (n.486-17077C>G) c.511G>C (p.Asp171His) | |
| 9 | g.36246121C>T | CA5056717 | CLTA,GNE | c.619G>A (p.Asp207Asn) c.349G>A (p.Asp117Asn) c.526G>A (p.Asp176Asn) c.486-17077C>T (n.486-17077C>T) c.511G>A (p.Asp171Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.36246122A>C | CA373418295 | CLTA,GNE | c.618T>G (p.His206Gln) c.348T>G (p.His116Gln) c.525T>G (p.His175Gln) c.486-17076A>C (n.486-17076A>C) c.510T>G (p.His170Gln) | |
| 9 | g.36246122A>G | CA464619786 | CLTA,GNE | c.618T>C (p.His206=) c.348T>C (p.His116=) c.525T>C (p.His175=) c.486-17076A>G (n.486-17076A>G) c.510T>C (p.His170=) | |
| 9 | g.36246122A>T | CA373418297 | CLTA,GNE | c.618T>A (p.His206Gln) c.348T>A (p.His116Gln) c.525T>A (p.His175Gln) c.486-17076A>T (n.486-17076A>T) c.510T>A (p.His170Gln) | |
| 9 | g.36246123T>A | CA373418299 | CLTA,GNE | c.617A>T (p.His206Leu) c.347A>T (p.His116Leu) c.524A>T (p.His175Leu) c.486-17075T>A (n.486-17075T>A) c.509A>T (p.His170Leu) | |
| 9 | g.36246123T>C | CA373418301 | CLTA,GNE | c.617A>G (p.His206Arg) c.347A>G (p.His116Arg) c.524A>G (p.His175Arg) c.486-17075T>C (n.486-17075T>C) c.509A>G (p.His170Arg) | gnomAD v4 |
| 9 | g.36246123T>G | CA373418303 | CLTA,GNE | c.617A>C (p.His206Pro) c.347A>C (p.His116Pro) c.524A>C (p.His175Pro) c.486-17075T>G (n.486-17075T>G) c.509A>C (p.His170Pro) | |
| 9 | g.36246124G>A | CA373418305 | CLTA,GNE | c.616C>T (p.His206Tyr) c.346C>T (p.His116Tyr) c.523C>T (p.His175Tyr) c.486-17074G>A (n.486-17074G>A) c.508C>T (p.His170Tyr) | |
| 9 | g.36246124G>C | CA373418307 | CLTA,GNE | c.616C>G (p.His206Asp) c.346C>G (p.His116Asp) c.523C>G (p.His175Asp) c.486-17074G>C (n.486-17074G>C) c.508C>G (p.His170Asp) | |
| 9 | g.36246124G>T | CA373418309 | CLTA,GNE | c.616C>A (p.His206Asn) c.346C>A (p.His116Asn) c.523C>A (p.His175Asn) c.486-17074G>T (n.486-17074G>T) c.508C>A (p.His170Asn) | |
| 9 | g.36246125G>A | CA464619798 | CLTA,GNE | c.615C>T (p.Asp205=) c.345C>T (p.Asp115=) c.522C>T (p.Asp174=) c.486-17073G>A (n.486-17073G>A) c.507C>T (p.Asp169=) | |
| 9 | g.36246125G>C | CA373418310 | CLTA,GNE | c.615C>G (p.Asp205Glu) c.345C>G (p.Asp115Glu) c.522C>G (p.Asp174Glu) c.486-17073G>C (n.486-17073G>C) c.507C>G (p.Asp169Glu) |