| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.43067871A= | CA2173020133 | UBR1 | c.798+27T= (n.798+27T=) c.*202+3028T= (n.*202+3028T=) | |
| 15 | g.43067871A>C | CA2173020134 | UBR1 | c.798+27T>G (n.798+27T>G) c.*202+3028T>G (n.*202+3028T>G) | dbSNP |
| 15 | g.43067873C>A | CA2173020136 | UBR1 | c.798+25G>T (n.798+25G>T) c.*202+3026G>T (n.*202+3026G>T) | dbSNP |
| 15 | g.43067873C= | CA2173020135 | UBR1 | c.798+25G= (n.798+25G=) c.*202+3026G= (n.*202+3026G=) | |
| 15 | g.43067873C>T | CA7518922 | UBR1 | c.798+25G>A (n.798+25G>A) c.*202+3026G>A (n.*202+3026G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43067874G>A | CA7518923 | UBR1 | c.798+24C>T (n.798+24C>T) c.*202+3025C>T (n.*202+3025C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43067874G= | CA2173020137 | UBR1 | c.798+24C= (n.798+24C=) c.*202+3025C= (n.*202+3025C=) | |
| 15 | g.43067874G>T | CA7518924 | UBR1 | c.798+24C>A (n.798+24C>A) c.*202+3025C>A (n.*202+3025C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43067876A>C | CA2628093605 | UBR1 | c.798+22T>G (n.798+22T>G) c.*202+3023T>G (n.*202+3023T>G) | gnomAD v4 |
| 15 | g.43067877A= | CA2173020138 | UBR1 | c.798+21T= (n.798+21T=) c.*202+3022T= (n.*202+3022T=) | |
| 15 | g.43067877A>G | CA969160980 | UBR1 | c.798+21T>C (n.798+21T>C) c.*202+3022T>C (n.*202+3022T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43067877A>T | CA2628093606 | UBR1 | c.798+21T>A (n.798+21T>A) c.*202+3022T>A (n.*202+3022T>A) | gnomAD v4 |
| 15 | g.43067879T>A | CA2739280052 | UBR1 | c.798+19A>T (n.798+19A>T) c.*202+3020A>T (n.*202+3020A>T) | ClinVar |
| 15 | g.43067879T>C | CA2575700201 | UBR1 | c.798+19A>G (n.798+19A>G) c.*202+3020A>G (n.*202+3020A>G) | gnomAD v4 |
| 15 | g.43067879T>G | CA2739280053 | UBR1 | c.798+19A>C (n.798+19A>C) c.*202+3020A>C (n.*202+3020A>C) | ClinVar |
| 15 | g.43067880C>A | CA2628093607 | UBR1 | c.798+18G>T (n.798+18G>T) c.*202+3019G>T (n.*202+3019G>T) | gnomAD v4 |
| 15 | g.43067881A= | CA2173020139 | UBR1 | c.798+17T= (n.798+17T=) c.*202+3018T= (n.*202+3018T=) | |
| 15 | g.43067881A>C | CA7518925 | UBR1 | c.798+17T>G (n.798+17T>G) c.*202+3018T>G (n.*202+3018T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43067884A= | CA2173020140 | UBR1 | c.798+14T= (n.798+14T=) c.*202+3015T= (n.*202+3015T=) | |
| 15 | g.43067884A>G | CA2173020141 | UBR1 | c.798+14T>C (n.798+14T>C) c.*202+3015T>C (n.*202+3015T>C) | dbSNP |
| 15 | g.43067886G>A | CA617634724 | UBR1 | c.798+12C>T (n.798+12C>T) c.*202+3013C>T (n.*202+3013C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.43067886G>C | CA2173020143 | UBR1 | c.798+12C>G (n.798+12C>G) c.*202+3013C>G (n.*202+3013C>G) | dbSNP gnomAD v4 |
| 15 | g.43067886G= | CA2173020142 | UBR1 | c.798+12C= (n.798+12C=) c.*202+3013C= (n.*202+3013C=) | |
| 15 | g.43067888G>A | CA2575700202 | UBR1 | c.798+10C>T (n.798+10C>T) c.*202+3011C>T (n.*202+3011C>T) | |
| 15 | g.43067889A= | CA2173020144 | UBR1 | c.798+9T= (n.798+9T=) c.*202+3010T= (n.*202+3010T=) | |
| 15 | g.43067889A>C | CA7518926 | UBR1 | c.798+9T>G (n.798+9T>G) c.*202+3010T>G (n.*202+3010T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.43067889A>G | CA490121005 | UBR1 | c.798+9T>C (n.798+9T>C) c.*202+3010T>C (n.*202+3010T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.43067890C>G | CA2803932013 | UBR1 | c.798+8G>C (n.798+8G>C) c.*202+3009G>C (n.*202+3009G>C) | |
| 15 | g.43067892A>G | CA2628093608 | UBR1 | c.798+6T>C (n.798+6T>C) c.*202+3007T>C (n.*202+3007T>C) | gnomAD v4 |
| 15 | g.43067893C>T | CA2575700203 | UBR1 | c.798+5G>A (n.798+5G>A) c.*202+3006G>A (n.*202+3006G>A) | |
| 15 | g.43067895A= | CA2173020145 | UBR1 | c.798+3T= (n.798+3T=) c.*202+3004T= (n.*202+3004T=) | |
| 15 | g.43067895A>C | CA7518927 | UBR1 | c.798+3T>G (n.798+3T>G) c.*202+3004T>G (n.*202+3004T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43067895A>G | CA7518928 | UBR1 | c.798+3T>C (n.798+3T>C) c.*202+3004T>C (n.*202+3004T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43067896A>C | CA392079826 | UBR1 | c.798+2T>G (n.798+2T>G) c.*202+3003T>G (n.*202+3003T>G) | |
| 15 | g.43067896A>G | CA392079820 | UBR1 | c.798+2T>C (n.798+2T>C) c.*202+3003T>C (n.*202+3003T>C) | |
| 15 | g.43067896A>T | CA392079823 | UBR1 | c.798+2T>A (n.798+2T>A) c.*202+3003T>A (n.*202+3003T>A) | |
| 15 | g.43067897C>A | CA392079829 | UBR1 | c.798+1G>T (n.798+1G>T) c.*202+3002G>T (n.*202+3002G>T) | gnomAD v4 |
| 15 | g.43067897C>G | CA392079831 | UBR1 | c.798+1G>C (n.798+1G>C) c.*202+3002G>C (n.*202+3002G>C) | |
| 15 | g.43067897C>T | CA392079838 | UBR1 | c.798+1G>A (n.798+1G>A) c.*202+3002G>A (n.*202+3002G>A) | |
| 15 | g.43067898C>A | CA392079843 | UBR1 | c.798G>T (p.Glu266Asp) c.*202+3001G>T (n.*202+3001G>T) | |
| 15 | g.43067898C>G | CA392079844 | UBR1 | c.798G>C (p.Glu266Asp) c.*202+3001G>C (n.*202+3001G>C) | |
| 15 | g.43067898C>T | CA490121006 | UBR1 | c.798G>A (p.Glu266=) c.*202+3001G>A (n.*202+3001G>A) | gnomAD v4 |
| 15 | g.43067899T>A | CA392079848 | UBR1 | c.797A>T (p.Glu266Val) c.*202+3000A>T (n.*202+3000A>T) | |
| 15 | g.43067899T>C | CA392079851 | UBR1 | c.797A>G (p.Glu266Gly) c.*202+3000A>G (n.*202+3000A>G) | |
| 15 | g.43067899T>G | CA392079852 | UBR1 | c.797A>C (p.Glu266Ala) c.*202+3000A>C (n.*202+3000A>C) | |
| 15 | g.43067900C>A | CA392079853 | UBR1 | c.796G>T (p.Glu266Ter) c.*202+2999G>T (n.*202+2999G>T) | |
| 15 | g.43067900C= | CA2173020146 | UBR1 | c.796G= (p.Glu266=) c.*202+2999G= (n.*202+2999G=) | |
| 15 | g.43067900C>G | CA392079854 | UBR1 | c.796G>C (p.Glu266Gln) c.*202+2999G>C (n.*202+2999G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.43067900C>T | CA392079856 | UBR1 | c.796G>A (p.Glu266Lys) c.*202+2999G>A (n.*202+2999G>A) | dbSNP |
| 15 | g.43067901T>A | CA392079859 | UBR1 | c.795A>T (p.Lys265Asn) c.*202+2998A>T (n.*202+2998A>T) | |
| 15 | g.43067901T>C | CA490121007 | UBR1 | c.795A>G (p.Lys265=) c.*202+2998A>G (n.*202+2998A>G) | |
| 15 | g.43067901T>G | CA392079858 | UBR1 | c.795A>C (p.Lys265Asn) c.*202+2998A>C (n.*202+2998A>C) | |
| 15 | g.43067902T>A | CA392079864 | UBR1 | c.794A>T (p.Lys265Ile) c.*202+2997A>T (n.*202+2997A>T) | dbSNP gnomAD v2 |
| 15 | g.43067902T>C | CA392079866 | UBR1 | c.794A>G (p.Lys265Arg) c.*202+2997A>G (n.*202+2997A>G) | dbSNP gnomAD v4 |
| 15 | g.43067902T>G | CA392079869 | UBR1 | c.794A>C (p.Lys265Thr) c.*202+2997A>C (n.*202+2997A>C) | |
| 15 | g.43067902T= | CA2173020147 | UBR1 | c.794A= (p.Lys265=) c.*202+2997A= (n.*202+2997A=) | |
| 15 | g.43067903T>A | CA392079872 | UBR1 | c.793A>T (p.Lys265Ter) c.*202+2996A>T (n.*202+2996A>T) | |
| 15 | g.43067903T>C | CA392079875 | UBR1 | c.793A>G (p.Lys265Glu) c.*202+2996A>G (n.*202+2996A>G) | |
| 15 | g.43067903T>G | CA392079877 | UBR1 | c.793A>C (p.Lys265Gln) c.*202+2996A>C (n.*202+2996A>C) | |
| 15 | g.43067904G>A | CA490121008 | UBR1 | c.792C>T (p.Asp264=) c.*202+2995C>T (n.*202+2995C>T) | ClinVar gnomAD v4 |
| 15 | g.43067904G>C | CA392079881 | UBR1 | c.792C>G (p.Asp264Glu) c.*202+2995C>G (n.*202+2995C>G) | |
| 15 | g.43067904G>T | CA392079883 | UBR1 | c.792C>A (p.Asp264Glu) c.*202+2995C>A (n.*202+2995C>A) | |
| 15 | g.43067905T>A | CA392079886 | UBR1 | c.791A>T (p.Asp264Val) c.*202+2994A>T (n.*202+2994A>T) | |
| 15 | g.43067905T>C | CA392079887 | UBR1 | c.791A>G (p.Asp264Gly) c.*202+2994A>G (n.*202+2994A>G) | |
| 15 | g.43067905T>G | CA392079888 | UBR1 | c.791A>C (p.Asp264Ala) c.*202+2994A>C (n.*202+2994A>C) | |
| 15 | g.43067906C>A | CA392079891 | UBR1 | c.790G>T (p.Asp264Tyr) c.*202+2993G>T (n.*202+2993G>T) | |
| 15 | g.43067906C>G | CA392079894 | UBR1 | c.790G>C (p.Asp264His) c.*202+2993G>C (n.*202+2993G>C) | |
| 15 | g.43067906C>T | CA392079897 | UBR1 | c.790G>A (p.Asp264Asn) c.*202+2993G>A (n.*202+2993G>A) | |
| 15 | g.43067907A>C | CA392079900 | UBR1 | c.789T>G (p.Ile263Met) c.*202+2992T>G (n.*202+2992T>G) | |
| 15 | g.43067907A>G | CA490121009 | UBR1 | c.789T>C (p.Ile263=) c.*202+2992T>C (n.*202+2992T>C) | gnomAD v4 |
| 15 | g.43067907A>T | CA490121010 | UBR1 | c.789T>A (p.Ile263=) c.*202+2992T>A (n.*202+2992T>A) | dbSNP |
| 15 | g.43067908A>C | CA392079909 | UBR1 | c.788T>G (p.Ile263Ser) c.*202+2991T>G (n.*202+2991T>G) | |
| 15 | g.43067908A>G | CA392079904 | UBR1 | c.788T>C (p.Ile263Thr) c.*202+2991T>C (n.*202+2991T>C) | |
| 15 | g.43067908A>T | CA392079906 | UBR1 | c.788T>A (p.Ile263Asn) c.*202+2991T>A (n.*202+2991T>A) | |
| 15 | g.43067909T>A | CA392079912 | UBR1 | c.787A>T (p.Ile263Phe) c.*202+2990A>T (n.*202+2990A>T) | |
| 15 | g.43067909T>C | CA392079915 | UBR1 | c.787A>G (p.Ile263Val) c.*202+2990A>G (n.*202+2990A>G) | gnomAD v4 |
| 15 | g.43067909T>G | CA392079919 | UBR1 | c.787A>C (p.Ile263Leu) c.*202+2990A>C (n.*202+2990A>C) | |
| 15 | g.43067909_43067910delinsTG | CA2173020148 | UBR1 | c.786_787delinsCA (p.Ala262=) c.*202+2989_*202+2990delinsCA (n.*202+2989_*202+2990delinsCA) | |
| 15 | g.43067909_43067911del | CA2628093609 | UBR1 | c.785_787del (p.Ala262_Ile263delinsVal) c.*202+2988_*202+2990del (n.*202+2988_*202+2990del) | gnomAD v4 |
| 15 | g.43067910G>A | CA490121011 | UBR1 | c.786C>T (p.Ala262=) c.*202+2989C>T (n.*202+2989C>T) | |
| 15 | g.43067910G>C | CA490121012 | UBR1 | c.786C>G (p.Ala262=) c.*202+2989C>G (n.*202+2989C>G) | |
| 15 | g.43067910G>T | CA490121013 | UBR1 | c.786C>A (p.Ala262=) c.*202+2989C>A (n.*202+2989C>A) | |
| 15 | g.43067911del | CA617634725 | UBR1 | c.786del (p.Ile263LeufsTer24) c.*202+2989del (n.*202+2989del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43067911G>A | CA392079930 | UBR1 | c.785C>T (p.Ala262Val) c.*202+2988C>T (n.*202+2988C>T) | |
| 15 | g.43067911G>C | CA392079927 | UBR1 | c.785C>G (p.Ala262Gly) c.*202+2988C>G (n.*202+2988C>G) | COSMIC |
| 15 | g.43067911G>T | CA392079924 | UBR1 | c.785C>A (p.Ala262Asp) c.*202+2988C>A (n.*202+2988C>A) | |
| 15 | g.43067912C>A | CA392079932 | UBR1 | c.784G>T (p.Ala262Ser) c.*202+2987G>T (n.*202+2987G>T) | gnomAD v4 |
| 15 | g.43067912C>G | CA392079935 | UBR1 | c.784G>C (p.Ala262Pro) c.*202+2987G>C (n.*202+2987G>C) | |
| 15 | g.43067912C>T | CA392079938 | UBR1 | c.784G>A (p.Ala262Thr) c.*202+2987G>A (n.*202+2987G>A) | |
| 15 | g.43067913A>C | CA490121016 | UBR1 | c.783T>G (p.Thr261=) c.*202+2986T>G (n.*202+2986T>G) | |
| 15 | g.43067913A>G | CA490121014 | UBR1 | c.783T>C (p.Thr261=) c.*202+2986T>C (n.*202+2986T>C) | |
| 15 | g.43067913A>T | CA490121015 | UBR1 | c.783T>A (p.Thr261=) c.*202+2986T>A (n.*202+2986T>A) | |
| 15 | g.43067914G>A | CA392079940 | UBR1 | c.782C>T (p.Thr261Ile) c.*202+2985C>T (n.*202+2985C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43067914G>C | CA392079941 | UBR1 | c.782C>G (p.Thr261Ser) c.*202+2985C>G (n.*202+2985C>G) | |
| 15 | g.43067914G= | CA2173020149 | UBR1 | c.782C= (p.Thr261=) c.*202+2985C= (n.*202+2985C=) | |
| 15 | g.43067914G>T | CA392079945 | UBR1 | c.782C>A (p.Thr261Asn) c.*202+2985C>A (n.*202+2985C>A) | |
| 15 | g.43067915T>A | CA392079948 | UBR1 | c.781A>T (p.Thr261Ser) c.*202+2984A>T (n.*202+2984A>T) | |
| 15 | g.43067915T>C | CA392079953 | UBR1 | c.781A>G (p.Thr261Ala) c.*202+2984A>G (n.*202+2984A>G) | COSMIC |
| 15 | g.43067915T>G | CA392079950 | UBR1 | c.781A>C (p.Thr261Pro) c.*202+2984A>C (n.*202+2984A>C) | |
| 15 | g.43067916G>A | CA490121017 | UBR1 | c.780C>T (p.Thr260=) c.*202+2983C>T (n.*202+2983C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43067916G>C | CA490121018 | UBR1 | c.780C>G (p.Thr260=) c.*202+2983C>G (n.*202+2983C>G) | |
| 15 | g.43067916G= | CA2173020150 | UBR1 | c.780C= (p.Thr260=) c.*202+2983C= (n.*202+2983C=) | |
| 15 | g.43067916G>T | CA490121019 | UBR1 | c.780C>A (p.Thr260=) c.*202+2983C>A (n.*202+2983C>A) | |
| 15 | g.43067917G>A | CA392079960 | UBR1 | c.779C>T (p.Thr260Ile) c.*202+2982C>T (n.*202+2982C>T) | |
| 15 | g.43067917G>C | CA392079962 | UBR1 | c.779C>G (p.Thr260Ser) c.*202+2982C>G (n.*202+2982C>G) | |
| 15 | g.43067917G>T | CA392079963 | UBR1 | c.779C>A (p.Thr260Asn) c.*202+2982C>A (n.*202+2982C>A) | |
| 15 | g.43067918T>A | CA392079965 | UBR1 | c.778A>T (p.Thr260Ser) c.*202+2981A>T (n.*202+2981A>T) | |
| 15 | g.43067918T>C | CA392079968 | UBR1 | c.778A>G (p.Thr260Ala) c.*202+2981A>G (n.*202+2981A>G) | |
| 15 | g.43067918T>G | CA392079970 | UBR1 | c.778A>C (p.Thr260Pro) c.*202+2981A>C (n.*202+2981A>C) | |
| 15 | g.43067919A>C | CA392079974 | UBR1 | c.777T>G (p.His259Gln) c.*202+2980T>G (n.*202+2980T>G) | |
| 15 | g.43067919A>G | CA490121020 | UBR1 | c.777T>C (p.His259=) c.*202+2980T>C (n.*202+2980T>C) | |
| 15 | g.43067919A>T | CA392079977 | UBR1 | c.777T>A (p.His259Gln) c.*202+2980T>A (n.*202+2980T>A) | |
| 15 | g.43067920T>A | CA392079980 | UBR1 | c.776A>T (p.His259Leu) c.*202+2979A>T (n.*202+2979A>T) | |
| 15 | g.43067920T>C | CA392079982 | UBR1 | c.776A>G (p.His259Arg) c.*202+2979A>G (n.*202+2979A>G) | |
| 15 | g.43067920T>G | CA392079985 | UBR1 | c.776A>C (p.His259Pro) c.*202+2979A>C (n.*202+2979A>C) | |
| 15 | g.43067921G>A | CA392079988 | UBR1 | c.775C>T (p.His259Tyr) c.*202+2978C>T (n.*202+2978C>T) | |
| 15 | g.43067921G>C | CA392079993 | UBR1 | c.775C>G (p.His259Asp) c.*202+2978C>G (n.*202+2978C>G) | |
| 15 | g.43067921G>T | CA392079991 | UBR1 | c.775C>A (p.His259Asn) c.*202+2978C>A (n.*202+2978C>A) | |
| 15 | g.43067922C>A | CA392079996 | UBR1 | c.774G>T (p.Leu258Phe) c.*202+2977G>T (n.*202+2977G>T) | gnomAD v4 |
| 15 | g.43067922C>G | CA392080000 | UBR1 | c.774G>C (p.Leu258Phe) c.*202+2977G>C (n.*202+2977G>C) | |
| 15 | g.43067922C>T | CA490121021 | UBR1 | c.774G>A (p.Leu258=) c.*202+2977G>A (n.*202+2977G>A) | |
| 15 | g.43067923A= | CA2173020151 | UBR1 | c.773T= (p.Leu258=) c.*202+2976T= (n.*202+2976T=) | |
| 15 | g.43067923A>C | CA392080002 | UBR1 | c.773T>G (p.Leu258Trp) c.*202+2976T>G (n.*202+2976T>G) | dbSNP |
| 15 | g.43067923A>G | CA392080003 | UBR1 | c.773T>C (p.Leu258Ser) c.*202+2976T>C (n.*202+2976T>C) | dbSNP |
| 15 | g.43067923A>T | CA392080007 | UBR1 | c.773T>A (p.Leu258Ter) c.*202+2976T>A (n.*202+2976T>A) | |
| 15 | g.43067924A= | CA2173020152 | UBR1 | c.772T= (p.Leu258=) c.*202+2975T= (n.*202+2975T=) | |
| 15 | g.43067924A>C | CA269943693 | UBR1 | c.772T>G (p.Leu258Val) c.*202+2975T>G (n.*202+2975T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43067924A>G | CA490121022 | UBR1 | c.772T>C (p.Leu258=) c.*202+2975T>C (n.*202+2975T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43067924A>T | CA392080010 | UBR1 | c.772T>A (p.Leu258Met) c.*202+2975T>A (n.*202+2975T>A) | |
| 15 | g.43067925C>A | CA392080012 | UBR1 | c.771G>T (p.Gln257His) c.*202+2974G>T (n.*202+2974G>T) | gnomAD v4 |
| 15 | g.43067925C>G | CA392080011 | UBR1 | c.771G>C (p.Gln257His) c.*202+2974G>C (n.*202+2974G>C) | |
| 15 | g.43067925C>T | CA490121023 | UBR1 | c.771G>A (p.Gln257=) c.*202+2974G>A (n.*202+2974G>A) | |
| 15 | g.43067926del | CA2628093610 | UBR1 | c.770del (p.Gln257ArgfsTer30) c.*202+2973del (n.*202+2973del) | gnomAD v4 |
| 15 | g.43067926T>A | CA392080013 | UBR1 | c.770A>T (p.Gln257Leu) c.*202+2973A>T (n.*202+2973A>T) | |
| 15 | g.43067926T>C | CA392080014 | UBR1 | c.770A>G (p.Gln257Arg) c.*202+2973A>G (n.*202+2973A>G) | dbSNP |
| 15 | g.43067926T>G | CA392080015 | UBR1 | c.770A>C (p.Gln257Pro) c.*202+2973A>C (n.*202+2973A>C) | |
| 15 | g.43067926T= | CA2173020153 | UBR1 | c.770A= (p.Gln257=) c.*202+2973A= (n.*202+2973A=) | |
| 15 | g.43067927G>A | CA392080017 | UBR1 | c.769C>T (p.Gln257Ter) c.*202+2972C>T (n.*202+2972C>T) | gnomAD v4 |
| 15 | g.43067927G>C | CA392080018 | UBR1 | c.769C>G (p.Gln257Glu) c.*202+2972C>G (n.*202+2972C>G) | |
| 15 | g.43067927G>T | CA392080021 | UBR1 | c.769C>A (p.Gln257Lys) c.*202+2972C>A (n.*202+2972C>A) | |
| 15 | g.43067928G>A | CA490121024 | UBR1 | c.768C>T (p.Ala256=) c.*202+2971C>T (n.*202+2971C>T) | |
| 15 | g.43067928G>C | CA490121025 | UBR1 | c.768C>G (p.Ala256=) c.*202+2971C>G (n.*202+2971C>G) | |
| 15 | g.43067928G>T | CA490121026 | UBR1 | c.768C>A (p.Ala256=) c.*202+2971C>A (n.*202+2971C>A) | |
| 15 | g.43067929G>A | CA392080025 | UBR1 | c.767C>T (p.Ala256Val) c.*202+2970C>T (n.*202+2970C>T) | |
| 15 | g.43067929G>C | CA392080032 | UBR1 | c.767C>G (p.Ala256Gly) c.*202+2970C>G (n.*202+2970C>G) | |
| 15 | g.43067929G>T | CA392080030 | UBR1 | c.767C>A (p.Ala256Asp) c.*202+2970C>A (n.*202+2970C>A) | |
| 15 | g.43067930C>A | CA269943698 | UBR1 | c.766G>T (p.Ala256Ser) c.*202+2969G>T (n.*202+2969G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43067930C= | CA2173020154 | UBR1 | c.766G= (p.Ala256=) c.*202+2969G= (n.*202+2969G=) | |
| 15 | g.43067930C>G | CA392080036 | UBR1 | c.766G>C (p.Ala256Pro) c.*202+2969G>C (n.*202+2969G>C) | |
| 15 | g.43067930C>T | CA392080039 | UBR1 | c.766G>A (p.Ala256Thr) c.*202+2969G>A (n.*202+2969G>A) | |
| 15 | g.43067931C>A | CA392080044 | UBR1 | c.765G>T (p.Glu255Asp) c.*202+2968G>T (n.*202+2968G>T) | |
| 15 | g.43067931C>G | CA392080046 | UBR1 | c.765G>C (p.Glu255Asp) c.*202+2968G>C (n.*202+2968G>C) | |
| 15 | g.43067931C>T | CA490121027 | UBR1 | c.765G>A (p.Glu255=) c.*202+2968G>A (n.*202+2968G>A) | |
| 15 | g.43067932T>A | CA392080049 | UBR1 | c.764A>T (p.Glu255Val) c.*202+2967A>T (n.*202+2967A>T) | gnomAD v4 |
| 15 | g.43067932T>C | CA392080050 | UBR1 | c.764A>G (p.Glu255Gly) c.*202+2967A>G (n.*202+2967A>G) | |
| 15 | g.43067932T>G | CA392080054 | UBR1 | c.764A>C (p.Glu255Ala) c.*202+2967A>C (n.*202+2967A>C) | |
| 15 | g.43067933C>A | CA392080057 | UBR1 | c.763G>T (p.Glu255Ter) c.*202+2966G>T (n.*202+2966G>T) | |
| 15 | g.43067933C>G | CA392080059 | UBR1 | c.763G>C (p.Glu255Gln) c.*202+2966G>C (n.*202+2966G>C) | |
| 15 | g.43067933C>T | CA392080062 | UBR1 | c.763G>A (p.Glu255Lys) c.*202+2966G>A (n.*202+2966G>A) | COSMIC |
| 15 | g.43067934T>A | CA490121029 | UBR1 | c.762A>T (p.Ala254=) c.*202+2965A>T (n.*202+2965A>T) | |
| 15 | g.43067934T>C | CA7518929 | UBR1 | c.762A>G (p.Ala254=) c.*202+2965A>G (n.*202+2965A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.43067934T>G | CA490121028 | UBR1 | c.762A>C (p.Ala254=) c.*202+2965A>C (n.*202+2965A>C) | |
| 15 | g.43067934T= | CA2173020155 | UBR1 | c.762A= (p.Ala254=) c.*202+2965A= (n.*202+2965A=) | |
| 15 | g.43067935G>A | CA7518930 | UBR1 | c.761C>T (p.Ala254Val) c.*202+2964C>T (n.*202+2964C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.43067935G>C | CA392080068 | UBR1 | c.761C>G (p.Ala254Gly) c.*202+2964C>G (n.*202+2964C>G) | |
| 15 | g.43067935G= | CA2173020156 | UBR1 | c.761C= (p.Ala254=) c.*202+2964C= (n.*202+2964C=) | |
| 15 | g.43067935G>T | CA392080072 | UBR1 | c.761C>A (p.Ala254Glu) c.*202+2964C>A (n.*202+2964C>A) | |
| 15 | g.43067936C>A | CA7518931 | UBR1 | c.760G>T (p.Ala254Ser) c.*202+2963G>T (n.*202+2963G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43067936C= | CA2173020157 | UBR1 | c.760G= (p.Ala254=) c.*202+2963G= (n.*202+2963G=) | |
| 15 | g.43067936C>G | CA392080076 | UBR1 | c.760G>C (p.Ala254Pro) c.*202+2963G>C (n.*202+2963G>C) | |
| 15 | g.43067936C>T | CA7518932 | UBR1 | c.760G>A (p.Ala254Thr) c.*202+2963G>A (n.*202+2963G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43067937G>A | CA7518933 | UBR1 | c.759C>T (p.Leu253=) c.*202+2962C>T (n.*202+2962C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.43067937G>C | CA490121030 | UBR1 | c.759C>G (p.Leu253=) c.*202+2962C>G (n.*202+2962C>G) | gnomAD v4 |
| 15 | g.43067937G= | CA2173020158 | UBR1 | c.759C= (p.Leu253=) c.*202+2962C= (n.*202+2962C=) | |
| 15 | g.43067937G>T | CA490121031 | UBR1 | c.759C>A (p.Leu253=) c.*202+2962C>A (n.*202+2962C>A) | |
| 15 | g.43067938A= | CA2173020159 | UBR1 | c.758T= (p.Leu253=) c.*202+2961T= (n.*202+2961T=) | |
| 15 | g.43067938A>C | CA392080082 | UBR1 | c.758T>G (p.Leu253Arg) c.*202+2961T>G (n.*202+2961T>G) | dbSNP |
| 15 | g.43067938A>G | CA392080084 | UBR1 | c.758T>C (p.Leu253Pro) c.*202+2961T>C (n.*202+2961T>C) | |
| 15 | g.43067938A>T | CA392080085 | UBR1 | c.758T>A (p.Leu253His) c.*202+2961T>A (n.*202+2961T>A) | |
| 15 | g.43067939G>A | CA392080088 | UBR1 | c.757C>T (p.Leu253Phe) c.*202+2960C>T (n.*202+2960C>T) | |
| 15 | g.43067939G>C | CA392080091 | UBR1 | c.757C>G (p.Leu253Val) c.*202+2960C>G (n.*202+2960C>G) | |
| 15 | g.43067939G>T | CA392080095 | UBR1 | c.757C>A (p.Leu253Ile) c.*202+2960C>A (n.*202+2960C>A) | |
| 15 | g.43067940C>A | CA392080097 | UBR1 | c.756G>T (p.Glu252Asp) c.*202+2959G>T (n.*202+2959G>T) | |
| 15 | g.43067940C>G | CA392080100 | UBR1 | c.756G>C (p.Glu252Asp) c.*202+2959G>C (n.*202+2959G>C) | |
| 15 | g.43067940C>T | CA490121032 | UBR1 | c.756G>A (p.Glu252=) c.*202+2959G>A (n.*202+2959G>A) | |
| 15 | g.43067941T>A | CA392080107 | UBR1 | c.755A>T (p.Glu252Val) c.*202+2958A>T (n.*202+2958A>T) | |
| 15 | g.43067941T>C | CA392080106 | UBR1 | c.755A>G (p.Glu252Gly) c.*202+2958A>G (n.*202+2958A>G) | gnomAD v4 |
| 15 | g.43067941T>G | CA392080104 | UBR1 | c.755A>C (p.Glu252Ala) c.*202+2958A>C (n.*202+2958A>C) | |
| 15 | g.43067942C>A | CA392080108 | UBR1 | c.754G>T (p.Glu252Ter) c.*202+2957G>T (n.*202+2957G>T) | |
| 15 | g.43067942C>G | CA392080109 | UBR1 | c.754G>C (p.Glu252Gln) c.*202+2957G>C (n.*202+2957G>C) | gnomAD v4 |
| 15 | g.43067942C>T | CA392080110 | UBR1 | c.754G>A (p.Glu252Lys) c.*202+2957G>A (n.*202+2957G>A) | gnomAD v4 |
| 15 | g.43067944_43067945del | CA2628093611 | UBR1 | c.753_754del (p.Cys251Ter) c.*202+2956_*202+2957del (n.*202+2956_*202+2957del) | gnomAD v4 |
| 15 | g.43067943A>C | CA392080112 | UBR1 | c.753T>G (p.Cys251Trp) c.*202+2956T>G (n.*202+2956T>G) | |
| 15 | g.43067943A>G | CA490121033 | UBR1 | c.753T>C (p.Cys251=) c.*202+2956T>C (n.*202+2956T>C) | |
| 15 | g.43067943A>T | CA392080114 | UBR1 | c.753T>A (p.Cys251Ter) c.*202+2956T>A (n.*202+2956T>A) | |
| 15 | g.43067944C>A | CA7518934 | UBR1 | c.752G>T (p.Cys251Phe) c.*202+2955G>T (n.*202+2955G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43067944C= | CA2173020160 | UBR1 | c.752G= (p.Cys251=) c.*202+2955G= (n.*202+2955G=) | |
| 15 | g.43067944C>G | CA392080120 | UBR1 | c.752G>C (p.Cys251Ser) c.*202+2955G>C (n.*202+2955G>C) | |
| 15 | g.43067944C>T | CA392080123 | UBR1 | c.752G>A (p.Cys251Tyr) c.*202+2955G>A (n.*202+2955G>A) | |
| 15 | g.43067945A= | CA2173020161 | UBR1 | c.751T= (p.Cys251=) c.*202+2954T= (n.*202+2954T=) | |
| 15 | g.43067945A>C | CA392080128 | UBR1 | c.751T>G (p.Cys251Gly) c.*202+2954T>G (n.*202+2954T>G) | |
| 15 | g.43067945A>G | CA392080134 | UBR1 | c.751T>C (p.Cys251Arg) c.*202+2954T>C (n.*202+2954T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43067945A>T | CA392080135 | UBR1 | c.751T>A (p.Cys251Ser) c.*202+2954T>A (n.*202+2954T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43067946G>A | CA490121034 | UBR1 | c.750C>T (p.Asp250=) c.*202+2953C>T (n.*202+2953C>T) | gnomAD v4 |
| 15 | g.43067946G>C | CA392080139 | UBR1 | c.750C>G (p.Asp250Glu) c.*202+2953C>G (n.*202+2953C>G) | gnomAD v4 |
| 15 | g.43067946G>T | CA392080142 | UBR1 | c.750C>A (p.Asp250Glu) c.*202+2953C>A (n.*202+2953C>A) | |
| 15 | g.43067947T>A | CA392080148 | UBR1 | c.749A>T (p.Asp250Val) c.*202+2952A>T (n.*202+2952A>T) | |
| 15 | g.43067947T>C | CA392080149 | UBR1 | c.749A>G (p.Asp250Gly) c.*202+2952A>G (n.*202+2952A>G) | |
| 15 | g.43067947T>G | CA392080145 | UBR1 | c.749A>C (p.Asp250Ala) c.*202+2952A>C (n.*202+2952A>C) | |
| 15 | g.43067948C>A | CA392080150 | UBR1 | c.748G>T (p.Asp250Tyr) c.*202+2951G>T (n.*202+2951G>T) | |
| 15 | g.43067948C>G | CA392080153 | UBR1 | c.748G>C (p.Asp250His) c.*202+2951G>C (n.*202+2951G>C) | |
| 15 | g.43067948C>T | CA392080151 | UBR1 | c.748G>A (p.Asp250Asn) c.*202+2951G>A (n.*202+2951G>A) | COSMIC |
| 15 | g.43067949A= | CA2173020162 | UBR1 | c.747T= (p.Leu249=) c.*202+2950T= (n.*202+2950T=) | |
| 15 | g.43067949A>C | CA490121036 | UBR1 | c.747T>G (p.Leu249=) c.*202+2950T>G (n.*202+2950T>G) | |
| 15 | g.43067949A>G | CA490121037 | UBR1 | c.747T>C (p.Leu249=) c.*202+2950T>C (n.*202+2950T>C) | gnomAD v4 |
| 15 | g.43067949A>T | CA490121035 | UBR1 | c.747T>A (p.Leu249=) c.*202+2950T>A (n.*202+2950T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.43067950A>C | CA392080154 | UBR1 | c.746T>G (p.Leu249Arg) c.*202+2949T>G (n.*202+2949T>G) | gnomAD v4 |
| 15 | g.43067950A>G | CA392080155 | UBR1 | c.746T>C (p.Leu249Pro) c.*202+2949T>C (n.*202+2949T>C) | |
| 15 | g.43067950A>T | CA392080157 | UBR1 | c.746T>A (p.Leu249His) c.*202+2949T>A (n.*202+2949T>A) | |
| 15 | g.43067951G>A | CA392080159 | UBR1 | c.745C>T (p.Leu249Phe) c.*202+2948C>T (n.*202+2948C>T) | |
| 15 | g.43067951G>C | CA392080162 | UBR1 | c.745C>G (p.Leu249Val) c.*202+2948C>G (n.*202+2948C>G) | |
| 15 | g.43067951G>T | CA392080163 | UBR1 | c.745C>A (p.Leu249Ile) c.*202+2948C>A (n.*202+2948C>A) | |
| 15 | g.43067952A>C | CA490121038 | UBR1 | c.744T>G (p.Ala248=) c.*202+2947T>G (n.*202+2947T>G) | |
| 15 | g.43067952A>G | CA490121039 | UBR1 | c.744T>C (p.Ala248=) c.*202+2947T>C (n.*202+2947T>C) | gnomAD v4 |
| 15 | g.43067952A>T | CA490121040 | UBR1 | c.744T>A (p.Ala248=) c.*202+2947T>A (n.*202+2947T>A) | |
| 15 | g.43067953G>A | CA392080164 | UBR1 | c.743C>T (p.Ala248Val) c.*202+2946C>T (n.*202+2946C>T) | |
| 15 | g.43067953G>C | CA392080165 | UBR1 | c.743C>G (p.Ala248Gly) c.*202+2946C>G (n.*202+2946C>G) | |
| 15 | g.43067953G>T | CA392080167 | UBR1 | c.743C>A (p.Ala248Asp) c.*202+2946C>A (n.*202+2946C>A) | |
| 15 | g.43067954C>A | CA392080171 | UBR1 | c.742G>T (p.Ala248Ser) c.*202+2945G>T (n.*202+2945G>T) | gnomAD v4 |
| 15 | g.43067954C>G | CA392080173 | UBR1 | c.742G>C (p.Ala248Pro) c.*202+2945G>C (n.*202+2945G>C) | |
| 15 | g.43067954C>T | CA392080176 | UBR1 | c.742G>A (p.Ala248Thr) c.*202+2945G>A (n.*202+2945G>A) | gnomAD v4 |
| 15 | g.43067955T>A | CA392080180 | UBR1 | c.741A>T (p.Arg247Ser) c.*202+2944A>T (n.*202+2944A>T) | |
| 15 | g.43067955T>C | CA490121041 | UBR1 | c.741A>G (p.Arg247=) c.*202+2944A>G (n.*202+2944A>G) | dbSNP |
| 15 | g.43067955T>G | CA392080178 | UBR1 | c.741A>C (p.Arg247Ser) c.*202+2944A>C (n.*202+2944A>C) | |
| 15 | g.43067955T= | CA2173020163 | UBR1 | c.741A= (p.Arg247=) c.*202+2944A= (n.*202+2944A=) | |
| 15 | g.43067956C>A | CA392080183 | UBR1 | c.740G>T (p.Arg247Ile) c.*202+2943G>T (n.*202+2943G>T) | |
| 15 | g.43067956C>G | CA392080186 | UBR1 | c.740G>C (p.Arg247Thr) c.*202+2943G>C (n.*202+2943G>C) | |
| 15 | g.43067956C>T | CA392080188 | UBR1 | c.740G>A (p.Arg247Lys) c.*202+2943G>A (n.*202+2943G>A) | |
| 15 | g.43067957T>A | CA392080190 | UBR1 | c.739A>T (p.Arg247Ter) c.*202+2942A>T (n.*202+2942A>T) | |
| 15 | g.43067957T>C | CA392080193 | UBR1 | c.739A>G (p.Arg247Gly) c.*202+2942A>G (n.*202+2942A>G) | |
| 15 | g.43067957T>G | CA490121042 | UBR1 | c.739A>C (p.Arg247=) c.*202+2942A>C (n.*202+2942A>C) | |
| 15 | g.43067958T>A | CA392080196 | UBR1 | c.738A>T (p.Gln246His) c.*202+2941A>T (n.*202+2941A>T) | |
| 15 | g.43067958T>C | CA7518935 | UBR1 | c.738A>G (p.Gln246=) c.*202+2941A>G (n.*202+2941A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43067958T>G | CA392080203 | UBR1 | c.738A>C (p.Gln246His) c.*202+2941A>C (n.*202+2941A>C) | |
| 15 | g.43067958T= | CA2173020164 | UBR1 | c.738A= (p.Gln246=) c.*202+2941A= (n.*202+2941A=) | |
| 15 | g.43067959T>A | CA392080207 | UBR1 | c.737A>T (p.Gln246Leu) c.*202+2940A>T (n.*202+2940A>T) | |
| 15 | g.43067959T>C | CA392080209 | UBR1 | c.737A>G (p.Gln246Arg) c.*202+2940A>G (n.*202+2940A>G) | dbSNP gnomAD v4 |
| 15 | g.43067959T>G | CA392080212 | UBR1 | c.737A>C (p.Gln246Pro) c.*202+2940A>C (n.*202+2940A>C) | |
| 15 | g.43067959T= | CA2173020165 | UBR1 | c.737A= (p.Gln246=) c.*202+2940A= (n.*202+2940A=) | |
| 15 | g.43067960G>A | CA392080222 | UBR1 | c.736C>T (p.Gln246Ter) c.*202+2939C>T (n.*202+2939C>T) | |
| 15 | g.43067960G>C | CA392080219 | UBR1 | c.736C>G (p.Gln246Glu) c.*202+2939C>G (n.*202+2939C>G) | |
| 15 | g.43067960G>T | CA392080216 | UBR1 | c.736C>A (p.Gln246Lys) c.*202+2939C>A (n.*202+2939C>A) | |
| 15 | g.43067961T>A | CA7518936 | UBR1 | c.735A>T (p.Leu245=) c.*202+2938A>T (n.*202+2938A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43067961T>C | CA490121043 | UBR1 | c.735A>G (p.Leu245=) c.*202+2938A>G (n.*202+2938A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43067961T>G | CA490121044 | UBR1 | c.735A>C (p.Leu245=) c.*202+2938A>C (n.*202+2938A>C) | |
| 15 | g.43067961T= | CA2173020166 | UBR1 | c.735A= (p.Leu245=) c.*202+2938A= (n.*202+2938A=) | |
| 15 | g.43067962A= | CA2173020167 | UBR1 | c.734T= (p.Leu245=) c.*202+2937T= (n.*202+2937T=) | |
| 15 | g.43067962A>C | CA392080226 | UBR1 | c.734T>G (p.Leu245Arg) c.*202+2937T>G (n.*202+2937T>G) | |
| 15 | g.43067962A>G | CA392080227 | UBR1 | c.734T>C (p.Leu245Pro) c.*202+2937T>C (n.*202+2937T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43067962A>T | CA392080228 | UBR1 | c.734T>A (p.Leu245Gln) c.*202+2937T>A (n.*202+2937T>A) | |
| 15 | g.43067963G>A | CA490121045 | UBR1 | c.733C>T (p.Leu245=) c.*202+2936C>T (n.*202+2936C>T) | |
| 15 | g.43067963G>C | CA392080229 | UBR1 | c.733C>G (p.Leu245Val) c.*202+2936C>G (n.*202+2936C>G) | gnomAD v4 |
| 15 | g.43067963G>T | CA392080232 | UBR1 | c.733C>A (p.Leu245Ile) c.*202+2936C>A (n.*202+2936C>A) | |
| 15 | g.43067964G>A | CA490121046 | UBR1 | c.732C>T (p.Ser244=) c.*202+2935C>T (n.*202+2935C>T) | gnomAD v4 |
| 15 | g.43067964G>C | CA392080234 | UBR1 | c.732C>G (p.Ser244Arg) c.*202+2935C>G (n.*202+2935C>G) | |
| 15 | g.43067964G>T | CA392080236 | UBR1 | c.732C>A (p.Ser244Arg) c.*202+2935C>A (n.*202+2935C>A) | |
| 15 | g.43067965C>A | CA392080240 | UBR1 | c.731G>T (p.Ser244Ile) c.*202+2934G>T (n.*202+2934G>T) | |
| 15 | g.43067965C>G | CA392080242 | UBR1 | c.731G>C (p.Ser244Thr) c.*202+2934G>C (n.*202+2934G>C) | |
| 15 | g.43067965C>T | CA392080245 | UBR1 | c.731G>A (p.Ser244Asn) c.*202+2934G>A (n.*202+2934G>A) | |
| 15 | g.43067966T>A | CA392080250 | UBR1 | c.730A>T (p.Ser244Cys) c.*202+2933A>T (n.*202+2933A>T) | |
| 15 | g.43067966T>C | CA392080252 | UBR1 | c.730A>G (p.Ser244Gly) c.*202+2933A>G (n.*202+2933A>G) | |
| 15 | g.43067966T>G | CA392080256 | UBR1 | c.730A>C (p.Ser244Arg) c.*202+2933A>C (n.*202+2933A>C) | |
| 15 | g.43067967G>A | CA490121047 | UBR1 | c.729C>T (p.Tyr243=) c.*202+2932C>T (n.*202+2932C>T) | dbSNP gnomAD v4 |
| 15 | g.43067967G>C | CA392080258 | UBR1 | c.729C>G (p.Tyr243Ter) c.*202+2932C>G (n.*202+2932C>G) | |
| 15 | g.43067967G= | CA2173020168 | UBR1 | c.729C= (p.Tyr243=) c.*202+2932C= (n.*202+2932C=) | |
| 15 | g.43067967G>T | CA392080260 | UBR1 | c.729C>A (p.Tyr243Ter) c.*202+2932C>A (n.*202+2932C>A) | |
| 15 | g.43067968T>A | CA392080264 | UBR1 | c.728A>T (p.Tyr243Phe) c.*202+2931A>T (n.*202+2931A>T) | |
| 15 | g.43067968T>C | CA392080270 | UBR1 | c.728A>G (p.Tyr243Cys) c.*202+2931A>G (n.*202+2931A>G) | |
| 15 | g.43067968T>G | CA392080274 | UBR1 | c.728A>C (p.Tyr243Ser) c.*202+2931A>C (n.*202+2931A>C) | |
| 15 | g.43067969A>C | CA392080276 | UBR1 | c.727T>G (p.Tyr243Asp) c.*202+2930T>G (n.*202+2930T>G) | |
| 15 | g.43067969A>G | CA392080278 | UBR1 | c.727T>C (p.Tyr243His) c.*202+2930T>C (n.*202+2930T>C) | gnomAD v4 |
| 15 | g.43067969A>T | CA392080281 | UBR1 | c.727T>A (p.Tyr243Asn) c.*202+2930T>A (n.*202+2930T>A) |