Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.40471964_40472061delinsCCCAGCCCTGCAGGCGACGATGTCACATTCCCCGAGTTCCTGAGATACCTGGTGGATGAGGACCCTGAGCGCATGAATGAGCATTGGATGCCCGTGTA | CA2171795340 | CHST14 | c.751_848delinsCCCAGCCCTGCAGGCGACGATGTCACATTCCCCGAGTTCCTGAGATACCTGGTGGATGAGGACCCTGAGCGCATGAATGAGCATTGGATGCCCGTGTA (p.Pro251=) c.676_773delinsCCCAGCCCTGCAGGCGACGATGTCACATTCCCCGAGTTCCTGAGATACCTGGTGGATGAGGACCCTGAGCGCATGAATGAGCATTGGATGCCCGTGTA (p.Pro226=) | |
15 | g.40471968_40472064del | CA16619922 | CHST14 | c.755_851del (p.Ser252ThrfsTer?) c.680_776del (p.Ser227ThrfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.40471991T>A | CA391767019 | CHST14 | c.778T>A (p.Phe260Ile) c.703T>A (p.Phe235Ile) | |
15 | g.40471991T>C | CA391767021 | CHST14 | c.778T>C (p.Phe260Leu) c.703T>C (p.Phe235Leu) | ClinVar dbSNP |
15 | g.40471991T>G | CA391767024 | CHST14 | c.778T>G (p.Phe260Val) c.703T>G (p.Phe235Val) | |
15 | g.40471992T>A | CA391767027 | CHST14 | c.779T>A (p.Phe260Tyr) c.704T>A (p.Phe235Tyr) | |
15 | g.40471992T>C | CA391767029 | CHST14 | c.779T>C (p.Phe260Ser) c.704T>C (p.Phe235Ser) | |
15 | g.40471992T>G | CA391767031 | CHST14 | c.779T>G (p.Phe260Cys) c.704T>G (p.Phe235Cys) | |
15 | g.40471993C>A | CA391767038 | CHST14 | c.780C>A (p.Phe260Leu) c.705C>A (p.Phe235Leu) | |
15 | g.40471993C>G | CA391767035 | CHST14 | c.780C>G (p.Phe260Leu) c.705C>G (p.Phe235Leu) | |
15 | g.40471993C>T | CA489975428 | CHST14 | c.780C>T (p.Phe260=) c.705C>T (p.Phe235=) | |
15 | g.40471996del | CA2697554349 | CHST14 | c.783del (p.Glu262SerfsTer3) c.708del (p.Glu237SerfsTer3) | ClinVar |
15 | g.40471994C>A | CA391767040 | CHST14 | c.781C>A (p.Pro261Thr) c.706C>A (p.Pro236Thr) | |
15 | g.40471994C>G | CA391767042 | CHST14 | c.781C>G (p.Pro261Ala) c.706C>G (p.Pro236Ala) | |
15 | g.40471994C>T | CA391767044 | CHST14 | c.781C>T (p.Pro261Ser) c.706C>T (p.Pro236Ser) | |
15 | g.40471995C>A | CA391767046 | CHST14 | c.782C>A (p.Pro261His) c.707C>A (p.Pro236His) | |
15 | g.40471995C= | CA2171795351 | CHST14 | c.782C= (p.Pro261=) c.707C= (p.Pro236=) | |
15 | g.40471995C>G | CA391767048 | CHST14 | c.782C>G (p.Pro261Arg) c.707C>G (p.Pro236Arg) | dbSNP gnomAD v4 |
15 | g.40471995C>T | CA391767050 | CHST14 | c.782C>T (p.Pro261Leu) c.707C>T (p.Pro236Leu) | dbSNP gnomAD v4 |
15 | g.40471996C>A | CA489975430 | CHST14 | c.783C>A (p.Pro261=) c.708C>A (p.Pro236=) | |
15 | g.40471996C>G | CA489975433 | CHST14 | c.783C>G (p.Pro261=) c.708C>G (p.Pro236=) | |
15 | g.40471996C>T | CA489975432 | CHST14 | c.783C>T (p.Pro261=) c.708C>T (p.Pro236=) | gnomAD v4 |
15 | g.40471997G>A | CA391767055 | CHST14 | c.784G>A (p.Glu262Lys) c.709G>A (p.Glu237Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40471997G>C | CA391767051 | CHST14 | c.784G>C (p.Glu262Gln) c.709G>C (p.Glu237Gln) | |
15 | g.40471997G= | CA2171795352 | CHST14 | c.784G= (p.Glu262=) c.709G= (p.Glu237=) | |
15 | g.40471997G>T | CA391767054 | CHST14 | c.784G>T (p.Glu262Ter) c.709G>T (p.Glu237Ter) | |
15 | g.40471998A>C | CA391767057 | CHST14 | c.785A>C (p.Glu262Ala) c.710A>C (p.Glu237Ala) | |
15 | g.40471998A>G | CA391767059 | CHST14 | c.785A>G (p.Glu262Gly) c.710A>G (p.Glu237Gly) | |
15 | g.40471998A>T | CA391767061 | CHST14 | c.785A>T (p.Glu262Val) c.710A>T (p.Glu237Val) | |
15 | g.40471999G>A | CA489975437 | CHST14 | c.786G>A (p.Glu262=) c.711G>A (p.Glu237=) | |
15 | g.40471999G>C | CA391767063 | CHST14 | c.786G>C (p.Glu262Asp) c.711G>C (p.Glu237Asp) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.40471999G= | CA2171795353 | CHST14 | c.786G= (p.Glu262=) c.711G= (p.Glu237=) | |
15 | g.40471999G>T | CA391767064 | CHST14 | c.786G>T (p.Glu262Asp) c.711G>T (p.Glu237Asp) | |
15 | g.40472000T>A | CA391767073 | CHST14 | c.787T>A (p.Phe263Ile) c.712T>A (p.Phe238Ile) | |
15 | g.40472000T>C | CA391767068 | CHST14 | c.787T>C (p.Phe263Leu) c.712T>C (p.Phe238Leu) | COSMIC |
15 | g.40472000T>G | CA391767070 | CHST14 | c.787T>G (p.Phe263Val) c.712T>G (p.Phe238Val) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.40472000T= | CA2171795354 | CHST14 | c.787T= (p.Phe263=) c.712T= (p.Phe238=) | |
15 | g.40472001T>A | CA391767075 | CHST14 | c.788T>A (p.Phe263Tyr) c.713T>A (p.Phe238Tyr) | |
15 | g.40472001T>C | CA391767077 | CHST14 | c.788T>C (p.Phe263Ser) c.713T>C (p.Phe238Ser) | |
15 | g.40472001T>G | CA391767079 | CHST14 | c.788T>G (p.Phe263Cys) c.713T>G (p.Phe238Cys) | |
15 | g.40472002C>A | CA391767081 | CHST14 | c.789C>A (p.Phe263Leu) c.714C>A (p.Phe238Leu) | gnomAD v4 |
15 | g.40472002C= | CA2171795355 | CHST14 | c.789C= (p.Phe263=) c.714C= (p.Phe238=) | |
15 | g.40472002C>G | CA391767083 | CHST14 | c.789C>G (p.Phe263Leu) c.714C>G (p.Phe238Leu) | |
15 | g.40472002C>T | CA489975442 | CHST14 | c.789C>T (p.Phe263=) c.714C>T (p.Phe238=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
15 | g.40472003C>A | CA391767084 | CHST14 | c.790C>A (p.Leu264Met) c.715C>A (p.Leu239Met) | |
15 | g.40472003C= | CA2171795356 | CHST14 | c.790C= (p.Leu264=) c.715C= (p.Leu239=) | |
15 | g.40472003C>G | CA391767085 | CHST14 | c.790C>G (p.Leu264Val) c.715C>G (p.Leu239Val) | |
15 | g.40472003C>T | CA489975444 | CHST14 | c.790C>T (p.Leu264=) c.715C>T (p.Leu239=) | dbSNP |
15 | g.40472004T>A | CA391767087 | CHST14 | c.791T>A (p.Leu264Gln) c.716T>A (p.Leu239Gln) | |
15 | g.40472004T>C | CA391767089 | CHST14 | c.791T>C (p.Leu264Pro) c.716T>C (p.Leu239Pro) | gnomAD v4 |