| 15 | g.40471267_40471291del | CA2695219935 | CHST14 | c.54_78del (p.Gly19TrpfsTer19)
| |
| 15 | g.40471271C>A | CA489764097 | CHST14 | c.58C>A (p.Arg20=)
| gnomAD v4 |
| 15 | g.40471271C= | CA2171794985 | CHST14 | c.58C= (p.Arg20=)
| |
| 15 | g.40471271C>G | CA391761995 | CHST14 | c.58C>G (p.Arg20Gly)
| gnomAD v4 |
| 15 | g.40471271C>T | CA7481545 | CHST14 | c.58C>T (p.Arg20Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471276_40471287del | CA2627823994 | CHST14 | c.63_74del (p.Leu22_Ala25del)
| gnomAD v4 |
| 15 | g.40471271_40471298delinsCGGGCGCTGAGGCGGGCCCCTCTGGGCA | CA2171794986 | CHST14 | c.58_85delinsCGGGCGCTGAGGCGGGCCCCTCTGGGCA (p.Arg20=)
| |
| 15 | g.40471272G>A | CA391761999 | CHST14 | c.59G>A (p.Arg20Gln)
| gnomAD v4 |
| 15 | g.40471272G>C | CA391762001 | CHST14 | c.59G>C (p.Arg20Pro)
| ClinVar dbSNP gnomAD v4 |
| 15 | g.40471272G= | CA2171794987 | CHST14 | c.59G= (p.Arg20=)
| |
| 15 | g.40471272G>T | CA391762003 | CHST14 | c.59G>T (p.Arg20Leu)
| gnomAD v4 |
| 15 | g.40471276_40471302del | CA2171794988 | CHST14 | c.63_89del (p.Leu22_Ala30del)
| dbSNP gnomAD v4 |
| 15 | g.40471273G>A | CA489764098 | CHST14 | c.60G>A (p.Arg20=)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471273G>C | CA489764099 | CHST14 | c.60G>C (p.Arg20=)
| |
| 15 | g.40471273G= | CA2171794989 | CHST14 | c.60G= (p.Arg20=)
| |
| 15 | g.40471273G>T | CA489764100 | CHST14 | c.60G>T (p.Arg20=)
| |
| 15 | g.40471274G>A | CA391762011 | CHST14 | c.61G>A (p.Ala21Thr)
| ClinVar dbSNP gnomAD v4 |
| 15 | g.40471274G>C | CA391762009 | CHST14 | c.61G>C (p.Ala21Pro)
| |
| 15 | g.40471274G= | CA2171794990 | CHST14 | c.61G= (p.Ala21=)
| |
| 15 | g.40471274G>T | CA391762007 | CHST14 | c.61G>T (p.Ala21Ser)
| ClinVar gnomAD v4 |
| 15 | g.40471275C>A | CA391762014 | CHST14 | c.62C>A (p.Ala21Glu)
| gnomAD v4 |
| 15 | g.40471275C>G | CA391762012 | CHST14 | c.62C>G (p.Ala21Gly)
| |
| 15 | g.40471275C>T | CA391762016 | CHST14 | c.62C>T (p.Ala21Val)
| gnomAD v4 |
| 15 | g.40471276G>A | CA489764102 | CHST14 | c.63G>A (p.Ala21=)
| gnomAD v4 |
| 15 | g.40471276G>C | CA489764101 | CHST14 | c.63G>C (p.Ala21=)
| |
| 15 | g.40471276G>T | CA489764103 | CHST14 | c.63G>T (p.Ala21=)
| gnomAD v4 |
| 15 | g.40471277C>A | CA391762019 | CHST14 | c.64C>A (p.Leu22Met)
| dbSNP |
| 15 | g.40471277C= | CA2171794991 | CHST14 | c.64C= (p.Leu22=)
| |
| 15 | g.40471277C>G | CA391762022 | CHST14 | c.64C>G (p.Leu22Val)
| gnomAD v4 |
| 15 | g.40471277C>T | CA489764104 | CHST14 | c.64C>T (p.Leu22=)
| gnomAD v4 |
| 15 | g.40471278T>A | CA391762026 | CHST14 | c.65T>A (p.Leu22Gln)
| |
| 15 | g.40471278T>C | CA391762028 | CHST14 | c.65T>C (p.Leu22Pro)
| ClinVar gnomAD v4 |
| 15 | g.40471278T>G | CA391762030 | CHST14 | c.65T>G (p.Leu22Arg)
| |
| 15 | g.40471279G>A | CA489764105 | CHST14 | c.66G>A (p.Leu22=)
| dbSNP |
| 15 | g.40471279G>C | CA489764106 | CHST14 | c.66G>C (p.Leu22=)
| |
| 15 | g.40471279G= | CA2171794992 | CHST14 | c.66G= (p.Leu22=)
| |
| 15 | g.40471279G>T | CA489764107 | CHST14 | c.66G>T (p.Leu22=)
| gnomAD v4 |
| 15 | g.40471280A>C | CA489764108 | CHST14 | c.67A>C (p.Arg23=)
| |
| 15 | g.40471280A>G | CA391762033 | CHST14 | c.67A>G (p.Arg23Gly)
| |
| 15 | g.40471280A>T | CA391762035 | CHST14 | c.67A>T (p.Arg23Trp)
| |
| 15 | g.40471281G>A | CA7481546 | CHST14 | c.68G>A (p.Arg23Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471281G>C | CA391762043 | CHST14 | c.68G>C (p.Arg23Thr)
| gnomAD v4 |
| 15 | g.40471281G= | CA2171794993 | CHST14 | c.68G= (p.Arg23=)
| |
| 15 | g.40471281G>T | CA391762044 | CHST14 | c.68G>T (p.Arg23Met)
| gnomAD v4 |
| 15 | g.40471282G>A | CA489764109 | CHST14 | c.69G>A (p.Arg23=)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471282G>C | CA391762048 | CHST14 | c.69G>C (p.Arg23Ser)
| |
| 15 | g.40471282G= | CA2171794994 | CHST14 | c.69G= (p.Arg23=)
| |
| 15 | g.40471282G>T | CA391762052 | CHST14 | c.69G>T (p.Arg23Ser)
| gnomAD v4 |
| 15 | g.40471283C>A | CA489764110 | CHST14 | c.70C>A (p.Arg24=)
| gnomAD v4 |
| 15 | g.40471283C>G | CA391762055 | CHST14 | c.70C>G (p.Arg24Gly)
| |
| 15 | g.40471283C>T | CA391762057 | CHST14 | c.70C>T (p.Arg24Trp)
| gnomAD v4 |
| 15 | g.40471284G>A | CA391762068 | CHST14 | c.71G>A (p.Arg24Gln)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471284G>C | CA391762065 | CHST14 | c.71G>C (p.Arg24Pro)
| dbSNP |
| 15 | g.40471284G= | CA2171794995 | CHST14 | c.71G= (p.Arg24=)
| |
| 15 | g.40471284G>T | CA391762062 | CHST14 | c.71G>T (p.Arg24Leu)
| ClinVar gnomAD v4 |
| 15 | g.40471285G>A | CA489764111 | CHST14 | c.72G>A (p.Arg24=)
| |
| 15 | g.40471285G>C | CA489764112 | CHST14 | c.72G>C (p.Arg24=)
| |
| 15 | g.40471285G= | CA2171794996 | CHST14 | c.72G= (p.Arg24=)
| |
| 15 | g.40471285G>T | CA489764113 | CHST14 | c.72G>T (p.Arg24=)
| dbSNP gnomAD v4 |
| 15 | g.40471286G>A | CA391762073 | CHST14 | c.73G>A (p.Ala25Thr)
| dbSNP gnomAD v4 |
| 15 | g.40471286G>C | CA391762076 | CHST14 | c.73G>C (p.Ala25Pro)
| |
| 15 | g.40471286G= | CA2171794997 | CHST14 | c.73G= (p.Ala25=)
| |
| 15 | g.40471286G>T | CA391762079 | CHST14 | c.73G>T (p.Ala25Ser)
| ClinVar gnomAD v4 |
| 15 | g.40471286_40471287insT | CA2575679819 | CHST14 | c.73_74insT (p.Ala25ValfsTer?)
| |
| 15 | g.40471287C>A | CA10604787 | CHST14 | c.74C>A (p.Ala25Asp)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471287C= | CA2171794998 | CHST14 | c.74C= (p.Ala25=)
| |
| 15 | g.40471287C>G | CA391762088 | CHST14 | c.74C>G (p.Ala25Gly)
| |
| 15 | g.40471287C>T | CA391762091 | CHST14 | c.74C>T (p.Ala25Val)
| gnomAD v4 |
| 15 | g.40471290dup | CA391762083 | CHST14 | c.77dup (p.Leu27SerfsTer?)
| dbSNP |
| 15 | g.40471288C>A | CA489764114 | CHST14 | c.75C>A (p.Ala25=)
| gnomAD v4 |
| 15 | g.40471288C>G | CA489764116 | CHST14 | c.75C>G (p.Ala25=)
| ClinVar |
| 15 | g.40471288C>T | CA489764115 | CHST14 | c.75C>T (p.Ala25=)
| |
| 15 | g.40471289C>A | CA391762092 | CHST14 | c.76C>A (p.Pro26Thr)
| |
| 15 | g.40471289C>G | CA391762093 | CHST14 | c.76C>G (p.Pro26Ala)
| |
| 15 | g.40471289C>T | CA391762094 | CHST14 | c.76C>T (p.Pro26Ser)
| gnomAD v4 |
| 15 | g.40471290C>A | CA391762097 | CHST14 | c.77C>A (p.Pro26His)
| |
| 15 | g.40471290C= | CA2171794999 | CHST14 | c.77C= (p.Pro26=)
| |
| 15 | g.40471290C>G | CA391762098 | CHST14 | c.77C>G (p.Pro26Arg)
| dbSNP gnomAD v4 |
| 15 | g.40471290C>T | CA391762099 | CHST14 | c.77C>T (p.Pro26Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471291T>A | CA489764117 | CHST14 | c.78T>A (p.Pro26=)
| dbSNP gnomAD v4 |
| 15 | g.40471291T>C | CA268822089 | CHST14 | c.78T>C (p.Pro26=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471291T>G | CA489764118 | CHST14 | c.78T>G (p.Pro26=)
| |
| 15 | g.40471291T= | CA2171795000 | CHST14 | c.78T= (p.Pro26=)
| |
| 15 | g.40471292C>A | CA391762106 | CHST14 | c.79C>A (p.Leu27Met)
| gnomAD v4 |
| 15 | g.40471292C= | CA2171795001 | CHST14 | c.79C= (p.Leu27=)
| |
| 15 | g.40471292C>G | CA391762102 | CHST14 | c.79C>G (p.Leu27Val)
| |
| 15 | g.40471292C>T | CA489764119 | CHST14 | c.79C>T (p.Leu27=)
| dbSNP gnomAD v4 |
| 15 | g.40471293del | CA2575679820 | CHST14 | c.80del (p.Leu27ArgfsTer19)
| |
| 15 | g.40471293T>A | CA391762110 | CHST14 | c.80T>A (p.Leu27Gln)
| gnomAD v4 |
| 15 | g.40471293T>C | CA391762112 | CHST14 | c.80T>C (p.Leu27Pro)
| gnomAD v4 |
| 15 | g.40471293T>G | CA391762115 | CHST14 | c.80T>G (p.Leu27Arg)
| |
| 15 | g.40471294G>A | CA489764120 | CHST14 | c.81G>A (p.Leu27=)
| gnomAD v4 |
| 15 | g.40471294G>C | CA489764121 | CHST14 | c.81G>C (p.Leu27=)
| |
| 15 | g.40471294G>T | CA489764122 | CHST14 | c.81G>T (p.Leu27=)
| gnomAD v4 |
| 15 | g.40471298_40471308del | CA2695219936 | CHST14 | c.85_95del (p.Arg29GlyfsTer?)
| |
| 15 | g.40471295G>A | CA391762116 | CHST14 | c.82G>A (p.Gly28Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471295G>C | CA391762120 | CHST14 | c.82G>C (p.Gly28Arg)
| |
| 15 | g.40471295G= | CA2171795002 | CHST14 | c.82G= (p.Gly28=)
| |
| 15 | g.40471295G>T | CA391762122 | CHST14 | c.82G>T (p.Gly28Cys)
| gnomAD v4 |
| 15 | g.40471296G>A | CA391762124 | CHST14 | c.83G>A (p.Gly28Asp)
| gnomAD v4 COSMIC |
| 15 | g.40471296G>C | CA391762126 | CHST14 | c.83G>C (p.Gly28Ala)
| |
| 15 | g.40471296G= | CA2171795003 | CHST14 | c.83G= (p.Gly28=)
| |
| 15 | g.40471296G>T | CA391762130 | CHST14 | c.83G>T (p.Gly28Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471297C>A | CA489764123 | CHST14 | c.84C>A (p.Gly28=)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471297C= | CA2171795004 | CHST14 | c.84C= (p.Gly28=)
| |
| 15 | g.40471297C>G | CA489764124 | CHST14 | c.84C>G (p.Gly28=)
| gnomAD v4 |
| 15 | g.40471297C>T | CA489764125 | CHST14 | c.84C>T (p.Gly28=)
| gnomAD v4 |
| 15 | g.40471298A>C | CA489764126 | CHST14 | c.85A>C (p.Arg29=)
| |
| 15 | g.40471298A>G | CA391762135 | CHST14 | c.85A>G (p.Arg29Gly)
| ClinVar |
| 15 | g.40471298A>T | CA391762137 | CHST14 | c.85A>T (p.Arg29Trp)
| |
| 15 | g.40471299G>A | CA391762140 | CHST14 | c.86G>A (p.Arg29Lys)
| |
| 15 | g.40471299G>C | CA391762141 | CHST14 | c.86G>C (p.Arg29Thr)
| |
| 15 | g.40471299G>T | CA391762142 | CHST14 | c.86G>T (p.Arg29Met)
| ClinVar gnomAD v4 |
| 15 | g.40471301del | CA2627824039 | CHST14 | c.88del (p.Ala30ProfsTer16)
| gnomAD v4 |
| 15 | g.40471300G>A | CA489764127 | CHST14 | c.87G>A (p.Arg29=)
| gnomAD v4 |
| 15 | g.40471300G>C | CA391762144 | CHST14 | c.87G>C (p.Arg29Ser)
| |
| 15 | g.40471300G>T | CA391762143 | CHST14 | c.87G>T (p.Arg29Ser)
| |
| 15 | g.40471301G>A | CA268822090 | CHST14 | c.88G>A (p.Ala30Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471301G>C | CA391762147 | CHST14 | c.88G>C (p.Ala30Pro)
| |
| 15 | g.40471301G= | CA2171795005 | CHST14 | c.88G= (p.Ala30=)
| |
| 15 | g.40471301G>T | CA391762150 | CHST14 | c.88G>T (p.Ala30Ser)
| gnomAD v4 |
| 15 | g.40471302C>A | CA391762151 | CHST14 | c.89C>A (p.Ala30Asp)
| gnomAD v4 |
| 15 | g.40471302C= | CA2171795006 | CHST14 | c.89C= (p.Ala30=)
| |
| 15 | g.40471302C>G | CA391762153 | CHST14 | c.89C>G (p.Ala30Gly)
| |
| 15 | g.40471302C>T | CA268822091 | CHST14 | c.89C>T (p.Ala30Val)
| dbSNP gnomAD v4 |
| 15 | g.40471303C>A | CA489764128 | CHST14 | c.90C>A (p.Ala30=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471303C= | CA2171795007 | CHST14 | c.90C= (p.Ala30=)
| |
| 15 | g.40471303C>G | CA489764129 | CHST14 | c.90C>G (p.Ala30=)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471303C>T | CA489764130 | CHST14 | c.90C>T (p.Ala30=)
| gnomAD v4 |
| 15 | g.40471304C>A | CA489764131 | CHST14 | c.91C>A (p.Arg31=)
| gnomAD v4 |
| 15 | g.40471304C= | CA2171795008 | CHST14 | c.91C= (p.Arg31=)
| |
| 15 | g.40471304C>G | CA391762159 | CHST14 | c.91C>G (p.Arg31Gly)
| gnomAD v4 |
| 15 | g.40471304C>T | CA391762157 | CHST14 | c.91C>T (p.Arg31Trp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471304_40471318delinsCGGGCGGGGCTGGGT | CA2171795009 | CHST14 | c.91_105delinsCGGGCGGGGCTGGGT (p.Arg31=)
| |
| 15 | g.40471305G>A | CA391763578 | CHST14 | c.92G>A (p.Arg31Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471305G>C | CA391763581 | CHST14 | c.92G>C (p.Arg31Pro)
| |
| 15 | g.40471305G= | CA2171795010 | CHST14 | c.92G= (p.Arg31=)
| |
| 15 | g.40471305G>T | CA391763583 | CHST14 | c.92G>T (p.Arg31Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471309_40471322del | CA617557465 | CHST14 | c.96_109del (p.Gly33AlafsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471306G>A | CA489974747 | CHST14 | c.93G>A (p.Arg31=)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471306G>C | CA489974748 | CHST14 | c.93G>C (p.Arg31=)
| |
| 15 | g.40471306G= | CA2171795011 | CHST14 | c.93G= (p.Arg31=)
| |
| 15 | g.40471306G>T | CA489974751 | CHST14 | c.93G>T (p.Arg31=)
| gnomAD v4 |
| 15 | g.40471307G>A | CA391763586 | CHST14 | c.94G>A (p.Ala32Thr)
| gnomAD v4 |
| 15 | g.40471307G>C | CA391763589 | CHST14 | c.94G>C (p.Ala32Pro)
| ClinVar |
| 15 | g.40471307G>T | CA391763591 | CHST14 | c.94G>T (p.Ala32Ser)
| gnomAD v4 |
| 15 | g.40471308C>A | CA391763601 | CHST14 | c.95C>A (p.Ala32Glu)
| gnomAD v4 |
| 15 | g.40471308C= | CA2171795012 | CHST14 | c.95C= (p.Ala32=)
| |
| 15 | g.40471308C>G | CA391763595 | CHST14 | c.95C>G (p.Ala32Gly)
| |
| 15 | g.40471308C>T | CA268822094 | CHST14 | c.95C>T (p.Ala32Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471309G>A | CA489974761 | CHST14 | c.96G>A (p.Ala32=)
| gnomAD v4 |
| 15 | g.40471309G>C | CA489974767 | CHST14 | c.96G>C (p.Ala32=)
| gnomAD v4 |
| 15 | g.40471309G>T | CA489974769 | CHST14 | c.96G>T (p.Ala32=)
| ClinVar gnomAD v4 |
| 15 | g.40471312dup | CA2627824064 | CHST14 | c.99dup (p.Leu34AlafsTer?)
| gnomAD v4 |
| 15 | g.40471312del | CA2627824068 | CHST14 | c.99del (p.Leu34TrpfsTer12)
| gnomAD v4 |
| 15 | g.40471310G>A | CA391763605 | CHST14 | c.97G>A (p.Gly33Arg)
| gnomAD v4 |
| 15 | g.40471310G>C | CA391763608 | CHST14 | c.97G>C (p.Gly33Arg)
| |
| 15 | g.40471310G>T | CA391763611 | CHST14 | c.97G>T (p.Gly33Trp)
| gnomAD v4 |
| 15 | g.40471311G>A | CA7481547 | CHST14 | c.98G>A (p.Gly33Glu)
| dbSNP ExAC gnomAD v2 |
| 15 | g.40471311G>C | CA391763617 | CHST14 | c.98G>C (p.Gly33Ala)
| gnomAD v4 |
| 15 | g.40471311G= | CA2171795013 | CHST14 | c.98G= (p.Gly33=)
| |
| 15 | g.40471311G>T | CA391763619 | CHST14 | c.98G>T (p.Gly33Val)
| gnomAD v4 |
| 15 | g.40471312G>A | CA7481548 | CHST14 | c.99G>A (p.Gly33=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471312G>C | CA489974773 | CHST14 | c.99G>C (p.Gly33=)
| |
| 15 | g.40471312G= | CA2171795014 | CHST14 | c.99G= (p.Gly33=)
| |
| 15 | g.40471312G>T | CA489974774 | CHST14 | c.99G>T (p.Gly33=)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471313C>A | CA391763628 | CHST14 | c.100C>A (p.Leu34Met)
| gnomAD v4 |
| 15 | g.40471313C>G | CA391763625 | CHST14 | c.100C>G (p.Leu34Val)
| |
| 15 | g.40471313C>T | CA489974780 | CHST14 | c.100C>T (p.Leu34=)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471314T>A | CA391763633 | CHST14 | c.101T>A (p.Leu34Gln)
| |
| 15 | g.40471314T>C | CA391763636 | CHST14 | c.101T>C (p.Leu34Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471314T>G | CA391763640 | CHST14 | c.101T>G (p.Leu34Arg)
| |
| 15 | g.40471314T= | CA2171795015 | CHST14 | c.101T= (p.Leu34=)
| |
| 15 | g.40471315G>A | CA489974784 | CHST14 | c.102G>A (p.Leu34=)
| gnomAD v4 COSMIC |
| 15 | g.40471315G>C | CA489974786 | CHST14 | c.102G>C (p.Leu34=)
| dbSNP gnomAD v4 |
| 15 | g.40471315G= | CA2171795016 | CHST14 | c.102G= (p.Leu34=)
| |
| 15 | g.40471315G>T | CA489974789 | CHST14 | c.102G>T (p.Leu34=)
| gnomAD v4 |
| 15 | g.40471317del | CA2627824082 | CHST14 | c.104del (p.Gly35ValfsTer11)
| gnomAD v4 |
| 15 | g.40471316G>A | CA391763644 | CHST14 | c.103G>A (p.Gly35Ser)
| dbSNP gnomAD v4 |
| 15 | g.40471316G>C | CA391763647 | CHST14 | c.103G>C (p.Gly35Arg)
| |
| 15 | g.40471316G= | CA2171795017 | CHST14 | c.103G= (p.Gly35=)
| |
| 15 | g.40471316G>T | CA391763651 | CHST14 | c.103G>T (p.Gly35Cys)
| gnomAD v4 |
| 15 | g.40471317G>A | CA391763660 | CHST14 | c.104G>A (p.Gly35Asp)
| gnomAD v4 |
| 15 | g.40471317G>C | CA7481549 | CHST14 | c.104G>C (p.Gly35Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471317G= | CA2171795018 | CHST14 | c.104G= (p.Gly35=)
| |
| 15 | g.40471317G>T | CA391763658 | CHST14 | c.104G>T (p.Gly35Val)
| gnomAD v4 |
| 15 | g.40471318T>A | CA489974795 | CHST14 | c.105T>A (p.Gly35=)
| |
| 15 | g.40471318T>C | CA489974794 | CHST14 | c.105T>C (p.Gly35=)
| ClinVar gnomAD v3 gnomAD v4 |
| 15 | g.40471318T>G | CA268822122 | CHST14 | c.105T>G (p.Gly35=)
| dbSNP gnomAD v4 |
| 15 | g.40471318T= | CA2171795019 | CHST14 | c.105T= (p.Gly35=)
| |
| 15 | g.40471319G>A | CA391763665 | CHST14 | c.106G>A (p.Gly36Arg)
| dbSNP gnomAD v4 |
| 15 | g.40471319G>C | CA391763668 | CHST14 | c.106G>C (p.Gly36Arg)
| |
| 15 | g.40471319G>T | CA391763671 | CHST14 | c.106G>T (p.Gly36Trp)
| gnomAD v4 |
| 15 | g.40471321del | CA2627824092 | CHST14 | c.108del (p.Pro37ArgfsTer9)
| gnomAD v4 |
| 15 | g.40471320G>A | CA391763676 | CHST14 | c.107G>A (p.Gly36Glu)
| |
| 15 | g.40471320G>C | CA391763678 | CHST14 | c.107G>C (p.Gly36Ala)
| dbSNP |
| 15 | g.40471320G>T | CA391763680 | CHST14 | c.107G>T (p.Gly36Val)
| gnomAD v4 |
| 15 | g.40471321G>A | CA489974802 | CHST14 | c.108G>A (p.Gly36=)
| gnomAD v4 |
| 15 | g.40471321G>C | CA489974804 | CHST14 | c.108G>C (p.Gly36=)
| |
| 15 | g.40471321G>T | CA489974805 | CHST14 | c.108G>T (p.Gly36=)
| gnomAD v4 |
| 15 | g.40471322C>A | CA391763685 | CHST14 | c.109C>A (p.Pro37Thr)
| gnomAD v4 |
| 15 | g.40471322C>G | CA391763688 | CHST14 | c.109C>G (p.Pro37Ala)
| gnomAD v4 |
| 15 | g.40471322C>T | CA391763690 | CHST14 | c.109C>T (p.Pro37Ser)
| gnomAD v4 |
| 15 | g.40471323C>A | CA268822123 | CHST14 | c.110C>A (p.Pro37Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471323C= | CA2171795020 | CHST14 | c.110C= (p.Pro37=)
| |
| 15 | g.40471323C>G | CA391763696 | CHST14 | c.110C>G (p.Pro37Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471323C>T | CA391763699 | CHST14 | c.110C>T (p.Pro37Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471324G>A | CA268822124 | CHST14 | c.111G>A (p.Pro37=)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471324G>C | CA7481550 | CHST14 | c.111G>C (p.Pro37=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471324G= | CA2171795021 | CHST14 | c.111G= (p.Pro37=)
| |
| 15 | g.40471324G>T | CA489974814 | CHST14 | c.111G>T (p.Pro37=)
| ClinVar gnomAD v4 |
| 15 | g.40471325C>A | CA7481551 | CHST14 | c.112C>A (p.Pro38Thr)
| dbSNP ExAC gnomAD v4 |
| 15 | g.40471325C= | CA2171795022 | CHST14 | c.112C= (p.Pro38=)
| |
| 15 | g.40471325C>G | CA391763703 | CHST14 | c.112C>G (p.Pro38Ala)
| |
| 15 | g.40471325C>T | CA268822130 | CHST14 | c.112C>T (p.Pro38Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471328del | CA2627824116 | CHST14 | c.115del (p.Leu39CysfsTer7)
| gnomAD v4 |
| 15 | g.40471326C>A | CA391763704 | CHST14 | c.113C>A (p.Pro38His)
| |
| 15 | g.40471326C>G | CA391763705 | CHST14 | c.113C>G (p.Pro38Arg)
| ClinVar |
| 15 | g.40471326C>T | CA391763707 | CHST14 | c.113C>T (p.Pro38Leu)
| gnomAD v4 |
| 15 | g.40471327C>A | CA489974816 | CHST14 | c.114C>A (p.Pro38=)
| gnomAD v4 |
| 15 | g.40471327C>G | CA489974818 | CHST14 | c.114C>G (p.Pro38=)
| ClinVar dbSNP |
| 15 | g.40471327C>T | CA489974820 | CHST14 | c.114C>T (p.Pro38=)
| gnomAD v4 |
| 15 | g.40471328C>A | CA391763709 | CHST14 | c.115C>A (p.Leu39Met)
| gnomAD v4 |
| 15 | g.40471328C= | CA2171795023 | CHST14 | c.115C= (p.Leu39=)
| |
| 15 | g.40471328C>G | CA391763710 | CHST14 | c.115C>G (p.Leu39Val)
| |
| 15 | g.40471328C>T | CA268822131 | CHST14 | c.115C>T (p.Leu39=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471329T>A | CA391763713 | CHST14 | c.116T>A (p.Leu39Gln)
| gnomAD v4 |
| 15 | g.40471329T>C | CA391763716 | CHST14 | c.116T>C (p.Leu39Pro)
| gnomAD v4 |
| 15 | g.40471329T>G | CA391763719 | CHST14 | c.116T>G (p.Leu39Arg)
| gnomAD v4 |
| 15 | g.40471330G>A | CA489974824 | CHST14 | c.117G>A (p.Leu39=)
| ClinVar dbSNP gnomAD v4 |
| 15 | g.40471330G>C | CA489974825 | CHST14 | c.117G>C (p.Leu39=)
| |
| 15 | g.40471330G>T | CA489974826 | CHST14 | c.117G>T (p.Leu39=)
| gnomAD v4 |
| 15 | g.40471331C>A | CA391763721 | CHST14 | c.118C>A (p.Leu40Met)
| gnomAD v4 |
| 15 | g.40471331C>G | CA391763724 | CHST14 | c.118C>G (p.Leu40Val)
| |
| 15 | g.40471331C>T | CA489974827 | CHST14 | c.118C>T (p.Leu40=)
| gnomAD v4 |
| 15 | g.40471332T>A | CA391763729 | CHST14 | c.119T>A (p.Leu40Gln)
| |
| 15 | g.40471332T>C | CA391763730 | CHST14 | c.119T>C (p.Leu40Pro)
| gnomAD v4 |
| 15 | g.40471332T>G | CA391763733 | CHST14 | c.119T>G (p.Leu40Arg)
| |
| 15 | g.40471333G>A | CA489974829 | CHST14 | c.120G>A (p.Leu40=)
| gnomAD v4 |
| 15 | g.40471333G>C | CA489974830 | CHST14 | c.120G>C (p.Leu40=)
| |
| 15 | g.40471333G>T | CA489974832 | CHST14 | c.120G>T (p.Leu40=)
| gnomAD v4 |
| 15 | g.40471334C>A | CA391763740 | CHST14 | c.121C>A (p.Leu41Met)
| gnomAD v4 |
| 15 | g.40471334C= | CA2171795024 | CHST14 | c.121C= (p.Leu41=)
| |
| 15 | g.40471334C>G | CA391763736 | CHST14 | c.121C>G (p.Leu41Val)
| |
| 15 | g.40471334C>T | CA489974835 | CHST14 | c.121C>T (p.Leu41=)
| dbSNP gnomAD v4 |
| 15 | g.40471335T>A | CA391763742 | CHST14 | c.122T>A (p.Leu41Gln)
| |
| 15 | g.40471335T>C | CA391763745 | CHST14 | c.122T>C (p.Leu41Pro)
| gnomAD v4 COSMIC |
| 15 | g.40471335T>G | CA391763748 | CHST14 | c.122T>G (p.Leu41Arg)
| |
| 15 | g.40471336G>A | CA489974837 | CHST14 | c.123G>A (p.Leu41=)
| gnomAD v4 |
| 15 | g.40471336G>C | CA489974839 | CHST14 | c.123G>C (p.Leu41=)
| gnomAD v4 |
| 15 | g.40471336G>T | CA489974840 | CHST14 | c.123G>T (p.Leu41=)
| gnomAD v4 |
| 15 | g.40471337C>A | CA391763751 | CHST14 | c.124C>A (p.Pro42Thr)
| gnomAD v4 |
| 15 | g.40471337C>G | CA391763754 | CHST14 | c.124C>G (p.Pro42Ala)
| gnomAD v4 |
| 15 | g.40471337C>T | CA391763758 | CHST14 | c.124C>T (p.Pro42Ser)
| gnomAD v4 |
| 15 | g.40471338del | CA2803858065 | CHST14 | c.125del (p.Pro42ArgfsTer4)
| |
| 15 | g.40471338C>A | CA391763762 | CHST14 | c.125C>A (p.Pro42Gln)
| gnomAD v4 |
| 15 | g.40471338C= | CA2171795025 | CHST14 | c.125C= (p.Pro42=)
| |
| 15 | g.40471338C>G | CA391763763 | CHST14 | c.125C>G (p.Pro42Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471338C>T | CA391763766 | CHST14 | c.125C>T (p.Pro42Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471339G>A | CA489974844 | CHST14 | c.126G>A (p.Pro42=)
| gnomAD v4 |
| 15 | g.40471339G>C | CA489974845 | CHST14 | c.126G>C (p.Pro42=)
| gnomAD v4 |
| 15 | g.40471339G= | CA2171795026 | CHST14 | c.126G= (p.Pro42=)
| |
| 15 | g.40471339G>T | CA489974843 | CHST14 | c.126G>T (p.Pro42=)
| dbSNP gnomAD v4 |
| 15 | g.40471340T>A | CA391763768 | CHST14 | c.127T>A (p.Ser43Thr)
| |
| 15 | g.40471340T>C | CA391763770 | CHST14 | c.127T>C (p.Ser43Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471340T>G | CA391763771 | CHST14 | c.127T>G (p.Ser43Ala)
| |
| 15 | g.40471340T= | CA2171795027 | CHST14 | c.127T= (p.Ser43=)
| |
| 15 | g.40471341C>A | CA391763772 | CHST14 | c.128C>A (p.Ser43Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471341C= | CA2171795028 | CHST14 | c.128C= (p.Ser43=)
| |
| 15 | g.40471341C>G | CA391763776 | CHST14 | c.128C>G (p.Ser43Cys)
| |
| 15 | g.40471341C>T | CA391763775 | CHST14 | c.128C>T (p.Ser43Phe)
| gnomAD v4 |
| 15 | g.40471342C>A | CA489974851 | CHST14 | c.129C>A (p.Ser43=)
| gnomAD v4 |
| 15 | g.40471342C= | CA2171795029 | CHST14 | c.129C= (p.Ser43=)
| |
| 15 | g.40471342C>G | CA489974849 | CHST14 | c.129C>G (p.Ser43=)
| |
| 15 | g.40471342C>T | CA489974850 | CHST14 | c.129C>T (p.Ser43=)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471343A= | CA2171795030 | CHST14 | c.130A= (p.Met44=)
| |
| 15 | g.40471343A>C | CA391763778 | CHST14 | c.130A>C (p.Met44Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471343A>G | CA268822132 | CHST14 | c.130A>G (p.Met44Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471343A>T | CA391763780 | CHST14 | c.130A>T (p.Met44Leu)
| gnomAD v4 |
| 15 | g.40471344T>A | CA391763783 | CHST14 | c.131T>A (p.Met44Lys)
| gnomAD v4 |
| 15 | g.40471344T>C | CA391763785 | CHST14 | c.131T>C (p.Met44Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471344T>G | CA391763784 | CHST14 | c.131T>G (p.Met44Arg)
| |
| 15 | g.40471344T= | CA2171795031 | CHST14 | c.131T= (p.Met44=)
| |
| 15 | g.40471345G>A | CA391763787 | CHST14 | c.132G>A (p.Met44Ile)
| gnomAD v4 |
| 15 | g.40471345G>C | CA391763789 | CHST14 | c.132G>C (p.Met44Ile)
| |
| 15 | g.40471345G>T | CA391763791 | CHST14 | c.132G>T (p.Met44Ile)
| gnomAD v4 |
| 15 | g.40471346C>A | CA391763793 | CHST14 | c.133C>A (p.Leu45Met)
| gnomAD v4 |
| 15 | g.40471346C>G | CA391763794 | CHST14 | c.133C>G (p.Leu45Val)
| |
| 15 | g.40471346C>T | CA489974858 | CHST14 | c.133C>T (p.Leu45=)
| ClinVar gnomAD v4 |
| 15 | g.40471347T>A | CA391763796 | CHST14 | c.134T>A (p.Leu45Gln)
| gnomAD v4 |
| 15 | g.40471347T>C | CA391763797 | CHST14 | c.134T>C (p.Leu45Pro)
| gnomAD v4 |
| 15 | g.40471347T>G | CA391763799 | CHST14 | c.134T>G (p.Leu45Arg)
| ClinVar dbSNP gnomAD v4 |
| 15 | g.40471348G>A | CA489974862 | CHST14 | c.135G>A (p.Leu45=)
| gnomAD v4 |
| 15 | g.40471348G>C | CA489974863 | CHST14 | c.135G>C (p.Leu45=)
| ClinVar gnomAD v4 |
| 15 | g.40471348G>T | CA489974864 | CHST14 | c.135G>T (p.Leu45=)
| gnomAD v4 |
| 15 | g.40471349A>C | CA391763801 | CHST14 | c.136A>C (p.Met46Leu)
| gnomAD v4 |
| 15 | g.40471349A>G | CA391763803 | CHST14 | c.136A>G (p.Met46Val)
| gnomAD v4 |
| 15 | g.40471349A>T | CA391763805 | CHST14 | c.136A>T (p.Met46Leu)
| gnomAD v4 |
| 15 | g.40471350T>A | CA391763812 | CHST14 | c.137T>A (p.Met46Lys)
| gnomAD v4 |
| 15 | g.40471350T>C | CA391763809 | CHST14 | c.137T>C (p.Met46Thr)
| gnomAD v4 |
| 15 | g.40471350T>G | CA391763808 | CHST14 | c.137T>G (p.Met46Arg)
| |
| 15 | g.40471351G>A | CA391763816 | CHST14 | c.138G>A (p.Met46Ile)
| gnomAD v4 |
| 15 | g.40471351G>C | CA391763820 | CHST14 | c.138G>C (p.Met46Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471351G= | CA2171795032 | CHST14 | c.138G= (p.Met46=)
| |
| 15 | g.40471351G>T | CA391763822 | CHST14 | c.138G>T (p.Met46Ile)
| gnomAD v4 |
| 15 | g.40471352T>A | CA391763826 | CHST14 | c.139T>A (p.Phe47Ile)
| gnomAD v4 |
| 15 | g.40471352T>C | CA391763830 | CHST14 | c.139T>C (p.Phe47Leu)
| gnomAD v4 |
| 15 | g.40471352T>G | CA391763834 | CHST14 | c.139T>G (p.Phe47Val)
| |
| 15 | g.40471353T>A | CA391763839 | CHST14 | c.140T>A (p.Phe47Tyr)
| |
| 15 | g.40471353T>C | CA391763843 | CHST14 | c.140T>C (p.Phe47Ser)
| gnomAD v4 |
| 15 | g.40471353T>G | CA391763845 | CHST14 | c.140T>G (p.Phe47Cys)
| |
| 15 | g.40471354T>A | CA391763849 | CHST14 | c.141T>A (p.Phe47Leu)
| |
| 15 | g.40471354T>C | CA489974874 | CHST14 | c.141T>C (p.Phe47=)
| gnomAD v3 gnomAD v4 |
| 15 | g.40471354T>G | CA391763853 | CHST14 | c.141T>G (p.Phe47Leu)
| |
| 15 | g.40471355G>A | CA391763860 | CHST14 | c.142G>A (p.Ala48Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471355G>C | CA391763858 | CHST14 | c.142G>C (p.Ala48Pro)
| |
| 15 | g.40471355G= | CA2171795033 | CHST14 | c.142G= (p.Ala48=)
| |
| 15 | g.40471355G>T | CA391763857 | CHST14 | c.142G>T (p.Ala48Ser)
| gnomAD v4 |
| 15 | g.40471356C>A | CA391763864 | CHST14 | c.143C>A (p.Ala48Glu)
| ClinVar gnomAD v4 |
| 15 | g.40471356C= | CA2171795035 | CHST14 | c.143C= (p.Ala48=)
| |
| 15 | g.40471356C>G | CA391763867 | CHST14 | c.143C>G (p.Ala48Gly)
| gnomAD v4 |
| 15 | g.40471356C>T | CA7481552 | CHST14 | c.143C>T (p.Ala48Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471356_40471357delinsCG | CA2171795034 | CHST14 | c.143_144delinsCG (p.Ala48=)
| |
| 15 | g.40471357G>A | CA489974880 | CHST14 | c.144G>A (p.Ala48=)
| gnomAD v4 |
| 15 | g.40471357G>C | CA489974881 | CHST14 | c.144G>C (p.Ala48=)
| dbSNP |
| 15 | g.40471357G= | CA2171795036 | CHST14 | c.144G= (p.Ala48=)
| |
| 15 | g.40471357G>T | CA489974883 | CHST14 | c.144G>T (p.Ala48=)
| gnomAD v4 |
| 15 | g.40471358del | CA281521 | CHST14 | c.145del (p.Val49Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471358G>A | CA7481553 | CHST14 | c.145G>A (p.Val49Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471358G>C | CA391763883 | CHST14 | c.145G>C (p.Val49Leu)
| |
| 15 | g.40471358G= | CA2171795037 | CHST14 | c.145G= (p.Val49=)
| |
| 15 | g.40471358G>T | CA391763886 | CHST14 | c.145G>T (p.Val49Leu)
| gnomAD v4 |
| 15 | g.40471359T>A | CA391763891 | CHST14 | c.146T>A (p.Val49Glu)
| gnomAD v4 |
| 15 | g.40471359T>C | CA391763893 | CHST14 | c.146T>C (p.Val49Ala)
| gnomAD v4 |
| 15 | g.40471359T>G | CA391763896 | CHST14 | c.146T>G (p.Val49Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471359T= | CA2171795038 | CHST14 | c.146T= (p.Val49=)
| |
| 15 | g.40471360G>A | CA489974888 | CHST14 | c.147G>A (p.Val49=)
| gnomAD v4 |
| 15 | g.40471360G>C | CA489974891 | CHST14 | c.147G>C (p.Val49=)
| |
| 15 | g.40471360G>T | CA489974889 | CHST14 | c.147G>T (p.Val49=)
| gnomAD v4 |
| 15 | g.40471361A= | CA2171795039 | CHST14 | c.148A= (p.Ile50=)
| |
| 15 | g.40471361A>C | CA391763900 | CHST14 | c.148A>C (p.Ile50Leu)
| |
| 15 | g.40471361A>G | CA391763904 | CHST14 | c.148A>G (p.Ile50Val)
| |
| 15 | g.40471361A>T | CA268822133 | CHST14 | c.148A>T (p.Ile50Phe)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471362T>A | CA391763911 | CHST14 | c.149T>A (p.Ile50Asn)
| gnomAD v4 |
| 15 | g.40471362T>C | CA391763918 | CHST14 | c.149T>C (p.Ile50Thr)
| gnomAD v4 |
| 15 | g.40471362T>G | CA391763914 | CHST14 | c.149T>G (p.Ile50Ser)
| |
| 15 | g.40471363C>A | CA489974898 | CHST14 | c.150C>A (p.Ile50=)
| gnomAD v4 |
| 15 | g.40471363C= | CA2171795040 | CHST14 | c.150C= (p.Ile50=)
| |
| 15 | g.40471363C>G | CA391763920 | CHST14 | c.150C>G (p.Ile50Met)
| |
| 15 | g.40471363C>T | CA489974896 | CHST14 | c.150C>T (p.Ile50=)
| dbSNP gnomAD v4 |
| 15 | g.40471364G>A | CA391763925 | CHST14 | c.151G>A (p.Val51Met)
| ClinVar dbSNP gnomAD v4 |
| 15 | g.40471364G>C | CA7481554 | CHST14 | c.151G>C (p.Val51Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471364G= | CA2171795041 | CHST14 | c.151G= (p.Val51=)
| |
| 15 | g.40471364G>T | CA391763929 | CHST14 | c.151G>T (p.Val51Leu)
| gnomAD v4 |
| 15 | g.40471365T>A | CA391763933 | CHST14 | c.152T>A (p.Val51Glu)
| |
| 15 | g.40471365T>C | CA391763936 | CHST14 | c.152T>C (p.Val51Ala)
| gnomAD v4 |
| 15 | g.40471365T>G | CA391763939 | CHST14 | c.152T>G (p.Val51Gly)
| dbSNP |
| 15 | g.40471365T= | CA2171795043 | CHST14 | c.152T= (p.Val51=)
| |
| 15 | g.40471365_40471376delinsTGGCCTCCAGCG | CA2171795042 | CHST14 | c.152_163delinsTGGCCTCCAGCG (p.Val51=)
| |
| 15 | g.40471366G>A | CA489974905 | CHST14 | c.153G>A (p.Val51=)
| gnomAD v4 |
| 15 | g.40471366G>C | CA489974907 | CHST14 | c.153G>C (p.Val51=)
| |
| 15 | g.40471366G>T | CA489974906 | CHST14 | c.153G>T (p.Val51=)
| gnomAD v4 |
| 15 | g.40471367del | CA2627824283 | CHST14 | c.154del (p.Ala52ProfsTer8)
| gnomAD v4 |
| 15 | g.40471369_40471379del | CA617557466 | CHST14 | c.156_166del (p.Ser53AlafsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471367G>A | CA391763944 | CHST14 | c.154G>A (p.Ala52Thr)
| gnomAD v4 |
| 15 | g.40471367G>C | CA391763947 | CHST14 | c.154G>C (p.Ala52Pro)
| |
| 15 | g.40471367G>T | CA391763950 | CHST14 | c.154G>T (p.Ala52Ser)
| gnomAD v4 |
| 15 | g.40471368C>A | CA391763959 | CHST14 | c.155C>A (p.Ala52Asp)
| gnomAD v4 |
| 15 | g.40471368C= | CA2171795044 | CHST14 | c.155C= (p.Ala52=)
| |
| 15 | g.40471368C>G | CA391763958 | CHST14 | c.155C>G (p.Ala52Gly)
| |
| 15 | g.40471368C>T | CA391763956 | CHST14 | c.155C>T (p.Ala52Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471369del | CA2573053992 | CHST14 | c.156del (p.Ser53ProfsTer7)
| dbSNP |
| 15 | g.40471369C>A | CA489974911 | CHST14 | c.156C>A (p.Ala52=)
| gnomAD v4 |
| 15 | g.40471369C= | CA2171795045 | CHST14 | c.156C= (p.Ala52=)
| |
| 15 | g.40471369C>G | CA489974912 | CHST14 | c.156C>G (p.Ala52=)
| |
| 15 | g.40471369C>T | CA489974913 | CHST14 | c.156C>T (p.Ala52=)
| dbSNP gnomAD v4 |
| 15 | g.40471370T>A | CA391763962 | CHST14 | c.157T>A (p.Ser53Thr)
| gnomAD v4 |
| 15 | g.40471370T>C | CA391763964 | CHST14 | c.157T>C (p.Ser53Pro)
| gnomAD v4 |
| 15 | g.40471370T>G | CA391763966 | CHST14 | c.157T>G (p.Ser53Ala)
| |
| 15 | g.40471371C>A | CA268822149 | CHST14 | c.158C>A (p.Ser53Tyr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471371C= | CA2171795046 | CHST14 | c.158C= (p.Ser53=)
| |
| 15 | g.40471371C>G | CA391763971 | CHST14 | c.158C>G (p.Ser53Cys)
| |
| 15 | g.40471371C>T | CA391763974 | CHST14 | c.158C>T (p.Ser53Phe)
| |
| 15 | g.40471372del | CA2803858066 | CHST14 | c.159del (p.Ser54AlafsTer6)
| |
