| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.40472323del | CA617557508 | CHST14 | c.1110del (p.Lys371ArgfsTer?) c.1035del (p.Lys346ArgfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40472323C>A | CA489975516 | CHST14 | c.1110C>A (p.Thr370=) c.1035C>A (p.Thr345=) | |
| 15 | g.40472323C>G | CA489975517 | CHST14 | c.1110C>G (p.Thr370=) c.1035C>G (p.Thr345=) | |
| 15 | g.40472323C>T | CA489975518 | CHST14 | c.1110C>T (p.Thr370=) c.1035C>T (p.Thr345=) | |
| 15 | g.40472324A>C | CA391769087 | CHST14 | c.1111A>C (p.Lys371Gln) c.1036A>C (p.Lys346Gln) | |
| 15 | g.40472324A>G | CA391769085 | CHST14 | c.1111A>G (p.Lys371Glu) c.1036A>G (p.Lys346Glu) | gnomAD v4 |
| 15 | g.40472324A>T | CA391769083 | CHST14 | c.1111A>T (p.Lys371Ter) c.1036A>T (p.Lys346Ter) | |
| 15 | g.40472325A>C | CA391769090 | CHST14 | c.1112A>C (p.Lys371Thr) c.1037A>C (p.Lys346Thr) | |
| 15 | g.40472325A>G | CA391769093 | CHST14 | c.1112A>G (p.Lys371Arg) c.1037A>G (p.Lys346Arg) | COSMIC |
| 15 | g.40472325A>T | CA391769096 | CHST14 | c.1112A>T (p.Lys371Met) c.1037A>T (p.Lys346Met) | |
| 15 | g.40472326G>A | CA489975519 | CHST14 | c.1113G>A (p.Lys371=) c.1038G>A (p.Lys346=) | dbSNP |
| 15 | g.40472326G>C | CA391769099 | CHST14 | c.1113G>C (p.Lys371Asn) c.1038G>C (p.Lys346Asn) | |
| 15 | g.40472326G= | CA2171795481 | CHST14 | c.1113G= (p.Lys371=) c.1038G= (p.Lys346=) | |
| 15 | g.40472326G>T | CA391769102 | CHST14 | c.1113G>T (p.Lys371Asn) c.1038G>T (p.Lys346Asn) | |
| 15 | g.40472327G>A | CA391769105 | CHST14 | c.1114G>A (p.Glu372Lys) c.1039G>A (p.Glu347Lys) | |
| 15 | g.40472327G>C | CA391769106 | CHST14 | c.1114G>C (p.Glu372Gln) c.1039G>C (p.Glu347Gln) | |
| 15 | g.40472327G>T | CA391769110 | CHST14 | c.1114G>T (p.Glu372Ter) c.1039G>T (p.Glu347Ter) | |
| 15 | g.40472328A= | CA2171795482 | CHST14 | c.1115A= (p.Glu372=) c.1040A= (p.Glu347=) | |
| 15 | g.40472328A>C | CA391769115 | CHST14 | c.1115A>C (p.Glu372Ala) c.1040A>C (p.Glu347Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40472328A>G | CA391769117 | CHST14 | c.1115A>G (p.Glu372Gly) c.1040A>G (p.Glu347Gly) | |
| 15 | g.40472328A>T | CA391769118 | CHST14 | c.1115A>T (p.Glu372Val) c.1040A>T (p.Glu347Val) | |
| 15 | g.40472329G>A | CA489764136 | CHST14 | c.1116G>A (p.Glu372=) c.1041G>A (p.Glu347=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40472329G>C | CA391769121 | CHST14 | c.1116G>C (p.Glu372Asp) c.1041G>C (p.Glu347Asp) | |
| 15 | g.40472329G= | CA2171795483 | CHST14 | c.1116G= (p.Glu372=) c.1041G= (p.Glu347=) | |
| 15 | g.40472329G>T | CA391769122 | CHST14 | c.1116G>T (p.Glu372Asp) c.1041G>T (p.Glu347Asp) | |
| 15 | g.40472330G>A | CA391769128 | CHST14 | c.1117G>A (p.Ala373Thr) c.1042G>A (p.Ala348Thr) | gnomAD v4 |
| 15 | g.40472330G>C | CA391769130 | CHST14 | c.1117G>C (p.Ala373Pro) c.1042G>C (p.Ala348Pro) | |
| 15 | g.40472330G= | CA2171795484 | CHST14 | c.1117G= (p.Ala373=) c.1042G= (p.Ala348=) | |
| 15 | g.40472330G>T | CA7481699 | CHST14 | c.1117G>T (p.Ala373Ser) c.1042G>T (p.Ala348Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.40472331C>A | CA391769135 | CHST14 | c.1118C>A (p.Ala373Glu) c.1043C>A (p.Ala348Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40472331C= | CA2171795486 | CHST14 | c.1118C= (p.Ala373=) c.1043C= (p.Ala348=) | |
| 15 | g.40472331C>G | CA391769132 | CHST14 | c.1118C>G (p.Ala373Gly) c.1043C>G (p.Ala348Gly) | |
| 15 | g.40472331C>T | CA7481700 | CHST14 | c.1118C>T (p.Ala373Val) c.1043C>T (p.Ala348Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40472331_40472355delinsCGTGTCAGCAGTGACCATGGGTGTG | CA2171795485 | CHST14 | c.1118_*11delinsCGTGTCAGCAGTGACCATGGGTGTG (n.[c.1118_*11delinsCGTGTCAGCAGTGACCATGGGTGTG;Ala373=]) c.1043_*11delinsCGTGTCAGCAGTGACCATGGGTGTG (n.[c.1043_*11delinsCGTGTCAGCAGTGACCATGGGTGTG;Ala348=]) | |
| 15 | g.40472332G>A | CA7481701 | CHST14 | c.1119G>A (p.Ala373=) c.1044G>A (p.Ala348=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40472332G>C | CA7481702 | CHST14 | c.1119G>C (p.Ala373=) c.1044G>C (p.Ala348=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.40472332G= | CA2171795487 | CHST14 | c.1119G= (p.Ala373=) c.1044G= (p.Ala348=) | |
| 15 | g.40472332G>T | CA489764142 | CHST14 | c.1119G>T (p.Ala373=) c.1044G>T (p.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.40472333T>A | CA391769143 | CHST14 | c.1120T>A (p.Cys374Ser) c.1045T>A (p.Cys349Ser) | |
| 15 | g.40472333T>C | CA391769144 | CHST14 | c.1120T>C (p.Cys374Arg) c.1045T>C (p.Cys349Arg) | |
| 15 | g.40472333T>G | CA391769146 | CHST14 | c.1120T>G (p.Cys374Gly) c.1045T>G (p.Cys349Gly) | |
| 15 | g.40472334G>A | CA391769149 | CHST14 | c.1121G>A (p.Cys374Tyr) c.1046G>A (p.Cys349Tyr) | dbSNP gnomAD v2 |
| 15 | g.40472334G>C | CA391769151 | CHST14 | c.1121G>C (p.Cys374Ser) c.1046G>C (p.Cys349Ser) | |
| 15 | g.40472334G= | CA2171795488 | CHST14 | c.1121G= (p.Cys374=) c.1046G= (p.Cys349=) | |
| 15 | g.40472334G>T | CA391769154 | CHST14 | c.1121G>T (p.Cys374Phe) c.1046G>T (p.Cys349Phe) | |
| 15 | g.40472335T>A | CA391769157 | CHST14 | c.1122T>A (p.Cys374Ter) c.1047T>A (p.Cys349Ter) | |
| 15 | g.40472335T>C | CA489764146 | CHST14 | c.1122T>C (p.Cys374=) c.1047T>C (p.Cys349=) | |
| 15 | g.40472335T>G | CA391769160 | CHST14 | c.1122T>G (p.Cys374Trp) c.1047T>G (p.Cys349Trp) | |
| 15 | g.40472336C>A | CA391769162 | CHST14 | c.1123C>A (p.Gln375Lys) c.1048C>A (p.Gln350Lys) | gnomAD v4 |
| 15 | g.40472336C= | CA2171795489 | CHST14 | c.1123C= (p.Gln375=) c.1048C= (p.Gln350=) | |
| 15 | g.40472336C>G | CA391769165 | CHST14 | c.1123C>G (p.Gln375Glu) c.1048C>G (p.Gln350Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40472336C>T | CA391769168 | CHST14 | c.1123C>T (p.Gln375Ter) c.1048C>T (p.Gln350Ter) | |
| 15 | g.40472337A>C | CA391769175 | CHST14 | c.1124A>C (p.Gln375Pro) c.1049A>C (p.Gln350Pro) | |
| 15 | g.40472337A>G | CA391769171 | CHST14 | c.1124A>G (p.Gln375Arg) c.1049A>G (p.Gln350Arg) | gnomAD v4 |
| 15 | g.40472337A>T | CA391769173 | CHST14 | c.1124A>T (p.Gln375Leu) c.1049A>T (p.Gln350Leu) | |
| 15 | g.40472338G>A | CA489764148 | CHST14 | c.1125G>A (p.Gln375=) c.1050G>A (p.Gln350=) | gnomAD v4 |
| 15 | g.40472338G>C | CA391769179 | CHST14 | c.1125G>C (p.Gln375His) c.1050G>C (p.Gln350His) | |
| 15 | g.40472338G>T | CA391769181 | CHST14 | c.1125G>T (p.Gln375His) c.1050G>T (p.Gln350His) | gnomAD v4 |
| 15 | g.40472339C>A | CA391769183 | CHST14 | c.1126C>A (p.Gln376Lys) c.1051C>A (p.Gln351Lys) | |
| 15 | g.40472339C>G | CA391769184 | CHST14 | c.1126C>G (p.Gln376Glu) c.1051C>G (p.Gln351Glu) | |
| 15 | g.40472339C>T | CA391769186 | CHST14 | c.1126C>T (p.Gln376Ter) c.1051C>T (p.Gln351Ter) | 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) |