Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.40472331_40472355delinsCGTGTCAGCAGTGACCATGGGTGTG | CA2171795485 | CHST14 | c.1118_*11delinsCGTGTCAGCAGTGACCATGGGTGTG (n.[c.1118_*11delinsCGTGTCAGCAGTGACCATGGGTGTG;Ala373=]) c.1043_*11delinsCGTGTCAGCAGTGACCATGGGTGTG (n.[c.1043_*11delinsCGTGTCAGCAGTGACCATGGGTGTG;Ala348=]) | |
15 | g.40472333_40472356del | CA712723973 | CHST14 | c.1120_*12del (n.[c.1120_*12del;Cys374GlyfsTer?]) c.1045_*12del (n.[c.1045_*12del;Cys349GlyfsTer?]) | ClinVar dbSNP gnomAD v4 |
15 | g.40472340A>C | CA391769189 | CHST14 | c.1127A>C (p.Gln376Pro) c.1052A>C (p.Gln351Pro) | |
15 | g.40472340A>G | CA391769191 | CHST14 | c.1127A>G (p.Gln376Arg) c.1052A>G (p.Gln351Arg) | |
15 | g.40472340A>T | CA391769192 | CHST14 | c.1127A>T (p.Gln376Leu) c.1052A>T (p.Gln351Leu) | gnomAD v4 |
15 | g.40472341G>A | CA7481703 | CHST14 | c.1128G>A (p.Gln376=) c.1053G>A (p.Gln351=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.40472341G>C | CA268823091 | CHST14 | c.1128G>C (p.Gln376His) c.1053G>C (p.Gln351His) | dbSNP |
15 | g.40472341G= | CA2171795490 | CHST14 | c.1128G= (p.Gln376=) c.1053G= (p.Gln351=) | |
15 | g.40472341G>T | CA391769199 | CHST14 | c.1128G>T (p.Gln376His) c.1053G>T (p.Gln351His) | |
15 | g.40472342T>A | CA391769213 | CHST14 | c.1129T>A (p.Ter377Arg) c.1054T>A (p.Ter352Arg) | |
15 | g.40472342T>C | CA391769210 | CHST14 | c.1129T>C (p.Ter377Arg) c.1054T>C (p.Ter352Arg) | gnomAD v4 |
15 | g.40472342T>G | CA391769208 | CHST14 | c.1129T>G (p.Ter377Gly) c.1054T>G (p.Ter352Gly) | |
15 | g.40472343G>A | CA489764151 | CHST14 | c.1130G>A (p.Ter377=) c.1055G>A (p.Ter352=) | |
15 | g.40472343G>C | CA391769215 | CHST14 | c.1130G>C (p.Ter377Ser) c.1055G>C (p.Ter352Ser) | |
15 | g.40472343G>T | CA391769219 | CHST14 | c.1130G>T (p.Ter377Leu) c.1055G>T (p.Ter352Leu) | |
15 | g.40472344A>C | CA391769221 | CHST14 | c.1131A>C (p.Ter377Cys) c.1056A>C (p.Ter352Cys) | |
15 | g.40472344A>G | CA391769224 | CHST14 | c.1131A>G (p.Ter377Trp) c.1056A>G (p.Ter352Trp) | |
15 | g.40472344A>T | CA391769226 | CHST14 | c.1131A>T (p.Ter377Cys) c.1056A>T (p.Ter352Cys) | |
15 | g.40472345C>A | CA2627824996 | CHST14 | c.*1C>A (n.*1C>A) | gnomAD v4 |
15 | g.40472345C>T | CA2627824997 | CHST14 | c.*1C>T (n.*1C>T) | gnomAD v4 |
15 | g.40472346del | CA2627824995 | CHST14 | c.*2del (n.*2del) | gnomAD v4 |
15 | g.40472346C>T | CA2741422373 | CHST14 | c.*2C>T (n.*2C>T) | |
15 | g.40472347A= | CA2171795491 | CHST14 | c.*3A= (n.*3A=) | |
15 | g.40472347A>G | CA712723992 | CHST14 | c.*3A>G (n.*3A>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.40472347A>T | CA2627824998 | CHST14 | c.*3A>T (n.*3A>T) | gnomAD v4 |
15 | g.40472348T>C | CA2627824999 | CHST14 | c.*4T>C (n.*4T>C) | gnomAD v4 |
15 | g.40472348T>G | CA2627825000 | CHST14 | c.*4T>G (n.*4T>G) | gnomAD v4 |
15 | g.40472350G>A | CA214778 | CHST14 | c.*6G>A (n.*6G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472350G>C | CA2581210355 | CHST14 | c.*6G>C (n.*6G>C) | |
15 | g.40472350G= | CA2171795492 | CHST14 | c.*6G= (n.*6G=) | |
15 | g.40472350G>T | CA2581210354 | CHST14 | c.*6G>T (n.*6G>T) | gnomAD v4 |
15 | g.40472351G>A | CA7481704 | CHST14 | c.*7G>A (n.*7G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.40472351G= | CA2171795493 | CHST14 | c.*7G= (n.*7G=) | |
15 | g.40472352T>C | CA2627825001 | CHST14 | c.*8T>C (n.*8T>C) | gnomAD v4 |
15 | g.40472352T= | CA2171795494 | CHST14 | c.*8T= (n.*8T=) | |
15 | g.40472352_40472353insCA | CA7481705 | CHST14 | c.*8_*9insCA (n.*8_*9insCA) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472353G>A | CA2627825002 | CHST14 | c.*9G>A (n.*9G>A) | gnomAD v4 |
15 | g.40472353G>T | CA2627825003 | CHST14 | c.*9G>T (n.*9G>T) | gnomAD v4 |
15 | g.40472354T>C | CA2627825004 | CHST14 | c.*10T>C (n.*10T>C) | gnomAD v4 |
15 | g.40472355G>A | CA617242869 | CHST14 | c.*11G>A (n.*11G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472355G= | CA2171795495 | CHST14 | c.*11G= (n.*11G=) | |
15 | g.40472358del | CA2627825005 | CHST14 | c.*14del (n.*14del) | gnomAD v4 |
15 | g.40472356G>A | CA2627825006 | CHST14 | c.*12G>A (n.*12G>A) | gnomAD v4 |
15 | g.40472356G>T | CA2627825007 | CHST14 | c.*12G>T (n.*12G>T) | gnomAD v4 |
15 | g.40472357G>A | CA617242870 | CHST14 | c.*13G>A (n.*13G>A) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.40472357G= | CA2171795496 | CHST14 | c.*13G= (n.*13G=) | |
15 | g.40472358G>A | CA2627825008 | CHST14 | c.*14G>A (n.*14G>A) | gnomAD v4 |
15 | g.40472358G>T | CA2627825009 | CHST14 | c.*14G>T (n.*14G>T) | gnomAD v4 |
15 | g.40472359C>A | CA2627825010 | CHST14 | c.*15C>A (n.*15C>A) | gnomAD v4 |
15 | g.40472359C= | CA2171795497 | CHST14 | c.*15C= (n.*15C=) | |
15 | g.40472359C>T | CA2171795498 | CHST14 | c.*15C>T (n.*15C>T) | dbSNP |
15 | g.40472360C>G | CA2627825011 | CHST14 | c.*16C>G (n.*16C>G) | gnomAD v4 |
15 | g.40472361A>G | CA2627825012 | CHST14 | c.*17A>G (n.*17A>G) | gnomAD v4 |
15 | g.40472361A>T | CA2575679825 | CHST14 | c.*17A>T (n.*17A>T) | gnomAD v4 |
15 | g.40472362G>A | CA2627825013 | CHST14 | c.*18G>A (n.*18G>A) | gnomAD v4 |
15 | g.40472363C>A | CA2627825014 | CHST14 | c.*19C>A (n.*19C>A) | gnomAD v4 |
15 | g.40472363C>T | CA2627825015 | CHST14 | c.*19C>T (n.*19C>T) | gnomAD v4 |
15 | g.40472365G>A | CA2627825016 | CHST14 | c.*21G>A (n.*21G>A) | gnomAD v4 |
15 | g.40472365G>T | CA2627825017 | CHST14 | c.*21G>T (n.*21G>T) | gnomAD v4 |
15 | g.40472366C= | CA2171795499 | CHST14 | c.*22C= (n.*22C=) | |
15 | g.40472366C>G | CA2575679826 | CHST14 | c.*22C>G (n.*22C>G) | |
15 | g.40472366C>T | CA617242871 | CHST14 | c.*22C>T (n.*22C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472367T>C | CA2627825018 | CHST14 | c.*23T>C (n.*23T>C) | gnomAD v4 |
15 | g.40472368G>A | CA2627825019 | CHST14 | c.*24G>A (n.*24G>A) | gnomAD v4 |
15 | g.40472368G>T | CA2627825020 | CHST14 | c.*24G>T (n.*24G>T) | gnomAD v4 |
15 | g.40472369G>T | CA2627825021 | CHST14 | c.*25G>T (n.*25G>T) | gnomAD v4 |
15 | g.40472370T>C | CA2627825022 | CHST14 | c.*26T>C (n.*26T>C) | gnomAD v4 |
15 | g.40472370_40472371delinsTG | CA2171795500 | CHST14 | c.*26_*27delinsTG (n.*26_*27delinsTG) | |
15 | g.40472374dup | CA7481706 | CHST14 | c.*30dup (n.*30dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472374del | CA617242872 | CHST14 | c.*30del (n.*30del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472372G>C | CA2627825023 | CHST14 | c.*28G>C (n.*28G>C) | gnomAD v4 |
15 | g.40472373G>A | CA2627825024 | CHST14 | c.*29G>A (n.*29G>A) | gnomAD v4 |
15 | g.40472374G>A | CA7481707 | CHST14 | c.*30G>A (n.*30G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472374G= | CA2171795501 | CHST14 | c.*30G= (n.*30G=) | |
15 | g.40472374G>T | CA2171795502 | CHST14 | c.*30G>T (n.*30G>T) | dbSNP gnomAD v4 |
15 | g.40472375A>T | CA2627825025 | CHST14 | c.*31A>T (n.*31A>T) | gnomAD v4 |
15 | g.40472376C>A | CA2627825026 | CHST14 | c.*32C>A (n.*32C>A) | gnomAD v4 |
15 | g.40472377T>C | CA2627825027 | CHST14 | c.*33T>C (n.*33T>C) | gnomAD v4 |
15 | g.40472377T= | CA2171795503 | CHST14 | c.*33T= (n.*33T=) | |
15 | g.40472378G>A | CA2627825028 | CHST14 | c.*34G>A (n.*34G>A) | gnomAD v4 |
15 | g.40472378G>T | CA2627825029 | CHST14 | c.*34G>T (n.*34G>T) | gnomAD v4 |
15 | g.40472379dup | CA617242873 | CHST14 | c.*35dup (n.*35dup) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.40472379G>A | CA2627825030 | CHST14 | c.*35G>A (n.*35G>A) | gnomAD v4 |
15 | g.40472379G>T | CA2627825031 | CHST14 | c.*35G>T (n.*35G>T) | gnomAD v4 |
15 | g.40472380T>C | CA2627825032 | CHST14 | c.*36T>C (n.*36T>C) | gnomAD v4 |
15 | g.40472381T>C | CA617242874 | CHST14 | c.*37T>C (n.*37T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472381T= | CA2171795504 | CHST14 | c.*37T= (n.*37T=) | |
15 | g.40472383C>A | CA2627825033 | CHST14 | c.*39C>A (n.*39C>A) | gnomAD v4 |
15 | g.40472385del | CA2627825034 | CHST14 | c.*41del (n.*41del) | gnomAD v4 |
15 | g.40472385A>T | CA2575679827 | CHST14 | c.*41A>T (n.*41A>T) | gnomAD v4 |
15 | g.40472386C>A | CA968992131 | CHST14 | c.*42C>A (n.*42C>A) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.40472386C= | CA2171795505 | CHST14 | c.*42C= (n.*42C=) | |
15 | g.40472386C>T | CA7481708 | CHST14 | c.*42C>T (n.*42C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472387G>A | CA7481709 | CHST14 | c.*43G>A (n.*43G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472387G= | CA2171795507 | CHST14 | c.*43G= (n.*43G=) | |
15 | g.40472387G>T | CA2171795506 | CHST14 | c.*43G>T (n.*43G>T) | dbSNP gnomAD v4 |
15 | g.40472388C>A | CA2627825035 | CHST14 | c.*44C>A (n.*44C>A) | gnomAD v4 |
15 | g.40472388C>T | CA2627825036 | CHST14 | c.*44C>T (n.*44C>T) | gnomAD v4 |
15 | g.40472389C>A | CA2627825037 | CHST14 | c.*45C>A (n.*45C>A) | gnomAD v4 |
15 | g.40472390A= | CA2171795508 | CHST14 | c.*46A= (n.*46A=) | |
15 | g.40472390A>G | CA2627825038 | CHST14 | c.*46A>G (n.*46A>G) | gnomAD v4 |
15 | g.40472390A>T | CA7481710 | CHST14 | c.*46A>T (n.*46A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472391G>A | CA617242875 | CHST14 | c.*47G>A (n.*47G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472391G= | CA2171795509 | CHST14 | c.*47G= (n.*47G=) | |
15 | g.40472391G>T | CA2627825039 | CHST14 | c.*47G>T (n.*47G>T) | gnomAD v4 |
15 | g.40472392C>A | CA2575679828 | CHST14 | c.*48C>A (n.*48C>A) | gnomAD v4 |
15 | g.40472392C= | CA2171795510 | CHST14 | c.*48C= (n.*48C=) | |
15 | g.40472392C>T | CA7481711 | CHST14 | c.*48C>T (n.*48C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472393T>C | CA2627825040 | CHST14 | c.*49T>C (n.*49T>C) | gnomAD v4 |
15 | g.40472394T>G | CA7481712 | CHST14 | c.*50T>G (n.*50T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472394T= | CA2171795511 | CHST14 | c.*50T= (n.*50T=) | |
15 | g.40472395T>C | CA2730847883 | CHST14 | c.*51T>C (n.*51T>C) | dbSNP |
15 | g.40472396C>A | CA2627825042 | CHST14 | c.*52C>A (n.*52C>A) | gnomAD v4 |
15 | g.40472396C>T | CA2627825041 | CHST14 | c.*52C>T (n.*52C>T) | gnomAD v4 |
15 | g.40472397T>A | CA2627825044 | CHST14 | c.*53T>A (n.*53T>A) | gnomAD v4 |
15 | g.40472397T>C | CA2627825043 | CHST14 | c.*53T>C (n.*53T>C) | gnomAD v4 |
15 | g.40472397T>G | CA617242876 | CHST14 | c.*53T>G (n.*53T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472397T= | CA2171795512 | CHST14 | c.*53T= (n.*53T=) | |
15 | g.40472398G>A | CA2627825045 | CHST14 | c.*54G>A (n.*54G>A) | gnomAD v4 |
15 | g.40472399T>C | CA2627825046 | CHST14 | c.*55T>C (n.*55T>C) | gnomAD v4 |
15 | g.40472400G>A | CA2627825047 | CHST14 | c.*56G>A (n.*56G>A) | gnomAD v4 |
15 | g.40472401C>A | CA2627825048 | CHST14 | c.*57C>A (n.*57C>A) | gnomAD v4 |
15 | g.40472401C= | CA2171795513 | CHST14 | c.*57C= (n.*57C=) | |
15 | g.40472401C>G | CA2627825049 | CHST14 | c.*57C>G (n.*57C>G) | gnomAD v4 |
15 | g.40472401C>T | CA968992146 | CHST14 | c.*57C>T (n.*57C>T) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.40472403_40472405del | CA2575679829 | CHST14 | c.*59_*61del (n.*59_*61del) | gnomAD v4 |
15 | g.40472403T>C | CA2627825050 | CHST14 | c.*59T>C (n.*59T>C) | gnomAD v4 |
15 | g.40472404C>A | CA2627825052 | CHST14 | c.*60C>A (n.*60C>A) | gnomAD v4 |
15 | g.40472404C>T | CA2627825053 | CHST14 | c.*60C>T (n.*60C>T) | gnomAD v4 |
15 | g.40472407_40472410dup | CA2627825051 | CHST14 | c.*63_*66dup (n.*63_*66dup) | gnomAD v4 |
15 | g.40472405T>C | CA2627825054 | CHST14 | c.*61T>C (n.*61T>C) | gnomAD v4 |
15 | g.40472405_40472406del | CA2803858067 | CHST14 | c.*61_*62del (n.*61_*62del) | |
15 | g.40472406G>A | CA2627825055 | CHST14 | c.*62G>A (n.*62G>A) | gnomAD v4 |
15 | g.40472406G>T | CA2627825056 | CHST14 | c.*62G>T (n.*62G>T) | gnomAD v4 |
15 | g.40472407C>A | CA2627825057 | CHST14 | c.*63C>A (n.*63C>A) | gnomAD v4 |
15 | g.40472407C>T | CA2627825058 | CHST14 | c.*63C>T (n.*63C>T) | gnomAD v4 |
15 | g.40472408C>A | CA2627825059 | CHST14 | c.*64C>A (n.*64C>A) | gnomAD v4 |
15 | g.40472409T>C | CA2575679830 | CHST14 | c.*65T>C (n.*65T>C) | gnomAD v4 |
15 | g.40472409T>G | CA2627825060 | CHST14 | c.*65T>G (n.*65T>G) | gnomAD v4 |
15 | g.40472410G>A | CA968992150 | CHST14 | c.*66G>A (n.*66G>A) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.40472410G= | CA2171795514 | CHST14 | c.*66G= (n.*66G=) | |
15 | g.40472410G>T | CA2627825061 | CHST14 | c.*66G>T (n.*66G>T) | gnomAD v4 |
15 | g.40472411T>A | CA2627825062 | CHST14 | c.*67T>A (n.*67T>A) | gnomAD v4 |
15 | g.40472411T>C | CA2627825063 | CHST14 | c.*67T>C (n.*67T>C) | gnomAD v4 |
15 | g.40472412C>A | CA2575679831 | CHST14 | c.*68C>A (n.*68C>A) | gnomAD v4 |
15 | g.40472412C= | CA2171795515 | CHST14 | c.*68C= (n.*68C=) | |
15 | g.40472412C>T | CA968992159 | CHST14 | c.*68C>T (n.*68C>T) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.40472413A= | CA2171795516 | CHST14 | c.*69A= (n.*69A=) | |
15 | g.40472413A>G | CA712724025 | CHST14 | c.*69A>G (n.*69A>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.40472414T>C | CA617242877 | CHST14 | c.*70T>C (n.*70T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472414T= | CA2171795517 | CHST14 | c.*70T= (n.*70T=) | |
15 | g.40472416C>A | CA2575679832 | CHST14 | c.*72C>A (n.*72C>A) | gnomAD v4 |
15 | g.40472416C= | CA2171795518 | CHST14 | c.*72C= (n.*72C=) | |
15 | g.40472416C>T | CA268823171 | CHST14 | c.*72C>T (n.*72C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472417G>A | CA268823177 | CHST14 | c.*73G>A (n.*73G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.40472417G= | CA2171795519 | CHST14 | c.*73G= (n.*73G=) | |
15 | g.40472417G>T | CA2627825064 | CHST14 | c.*73G>T (n.*73G>T) | gnomAD v4 |
15 | g.40472418G>T | CA2627825065 | CHST14 | c.*74G>T (n.*74G>T) | gnomAD v4 |
15 | g.40472420G>T | CA2627825066 | CHST14 | c.*76G>T (n.*76G>T) | gnomAD v4 |
15 | g.40472421A>G | CA2627825067 | CHST14 | c.*77A>G (n.*77A>G) | gnomAD v4 |
15 | g.40472423A>C | CA2627825068 | CHST14 | c.*79A>C (n.*79A>C) | gnomAD v4 |
15 | g.40472423A>G | CA2627825069 | CHST14 | c.*79A>G (n.*79A>G) | gnomAD v4 |
15 | g.40472423_40472425delinsACT | CA2171795520 | CHST14 | c.*79_*81delinsACT (n.*79_*81delinsACT) | |
15 | g.40472424C>T | CA2627825070 | CHST14 | c.*80C>T (n.*80C>T) | gnomAD v4 |
15 | g.40472426_40472427del | CA968992167 | CHST14 | c.*82_*83del (n.*82_*83del) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.40472425T>C | CA2627825071 | CHST14 | c.*81T>C (n.*81T>C) | gnomAD v4 |
15 | g.40472426C>A | CA2627825072 | CHST14 | c.*82C>A (n.*82C>A) | gnomAD v4 |
15 | g.40472426C>G | CA2627825073 | CHST14 | c.*82C>G (n.*82C>G) | gnomAD v4 |
15 | g.40472427T>C | CA2627825074 | CHST14 | c.*83T>C (n.*83T>C) | gnomAD v4 |
15 | g.40472428G>A | CA2627825075 | CHST14 | c.*84G>A (n.*84G>A) | gnomAD v4 |
15 | g.40472430C>A | CA2575679833 | CHST14 | c.*86C>A (n.*86C>A) | gnomAD v4 |
15 | g.40472431T>C | CA2627825076 | CHST14 | c.*87T>C (n.*87T>C) | gnomAD v4 |
15 | g.40472431T>G | CA268823181 | CHST14 | c.*87T>G (n.*87T>G) | dbSNP gnomAD v4 |
15 | g.40472431T= | CA2171795521 | CHST14 | c.*87T= (n.*87T=) | |
15 | g.40472432C= | CA2171795522 | CHST14 | c.*88C= (n.*88C=) | |
15 | g.40472432C>G | CA712724029 | CHST14 | c.*88C>G (n.*88C>G) | dbSNP |
15 | g.40472433T>C | CA2171795524 | CHST14 | c.*89T>C (n.*89T>C) | dbSNP gnomAD v4 |
15 | g.40472433T= | CA2171795523 | CHST14 | c.*89T= (n.*89T=) | |
15 | g.40472433_40472434delinsTG | CA2171795525 | CHST14 | c.*89_*90delinsTG (n.*89_*90delinsTG) | |
15 | g.40472441_40472447del | CA2627825077 | CHST14 | c.*97_*103del (n.*97_*103del) | gnomAD v4 |
15 | g.40472437del | CA968992174 | CHST14 | c.*93del (n.*93del) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.40472435G= | CA2171795526 | CHST14 | c.*91G= (n.*91G=) | |
15 | g.40472435G>T | CA712724030 | CHST14 | c.*91G>T (n.*91G>T) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.40472436G>A | CA2171795528 | CHST14 | c.*92G>A (n.*92G>A) | dbSNP |
15 | g.40472436G= | CA2171795527 | CHST14 | c.*92G= (n.*92G=) | |
15 | g.40472436G>T | CA2627825078 | CHST14 | c.*92G>T (n.*92G>T) | gnomAD v4 |
15 | g.40472437G>A | CA2171795530 | CHST14 | c.*93G>A (n.*93G>A) | dbSNP gnomAD v4 |
15 | g.40472437G= | CA2171795529 | CHST14 | c.*93G= (n.*93G=) | |
15 | g.40472437G>T | CA2627825079 | CHST14 | c.*93G>T (n.*93G>T) | gnomAD v4 |
15 | g.40472438C>A | CA2575679834 | CHST14 | c.*94C>A (n.*94C>A) | gnomAD v4 |
15 | g.40472438C= | CA2171795531 | CHST14 | c.*94C= (n.*94C=) | |
15 | g.40472438C>T | CA2171795532 | CHST14 | c.*94C>T (n.*94C>T) | dbSNP gnomAD v4 |
15 | g.40472439T>A | CA268823184 | CHST14 | c.*95T>A (n.*95T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472439T>C | CA2627825080 | CHST14 | c.*95T>C (n.*95T>C) | gnomAD v4 |
15 | g.40472439T>G | CA2627825081 | CHST14 | c.*95T>G (n.*95T>G) | gnomAD v4 |
15 | g.40472439T= | CA2171795533 | CHST14 | c.*95T= (n.*95T=) | |
15 | g.40472440T>C | CA2627825082 | CHST14 | c.*96T>C (n.*96T>C) | gnomAD v4 |
15 | g.40472440T>G | CA712724031 | CHST14 | c.*96T>G (n.*96T>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.40472440T= | CA2171795534 | CHST14 | c.*96T= (n.*96T=) |