UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.43067756_43067840del | CA2628093556 | UBR1 | c.798+59_798+143del (n.798+59_798+143del) c.*202+3060_*202+3144del (n.*202+3060_*202+3144del) | gnomAD v4 |
| 15 | g.43067823C>A | CA2803932011 | UBR1 | c.798+75G>T (n.798+75G>T) c.*202+3076G>T (n.*202+3076G>T) | |
| 15 | g.43067823C>T | CA2628093593 | UBR1 | c.798+75G>A (n.798+75G>A) c.*202+3076G>A (n.*202+3076G>A) | gnomAD v4 |
| 15 | g.43067825A>G | CA2575700193 | UBR1 | c.798+73T>C (n.798+73T>C) c.*202+3074T>C (n.*202+3074T>C) | |
| 15 | g.43067826G>A | CA269943678 | UBR1 | c.798+72C>T (n.798+72C>T) c.*202+3073C>T (n.*202+3073C>T) | dbSNP gnomAD v4 |
| 15 | g.43067826G= | CA2173020119 | UBR1 | c.798+72C= (n.798+72C=) c.*202+3073C= (n.*202+3073C=) | |
| 15 | g.43067826G>T | CA2628093594 | UBR1 | c.798+72C>A (n.798+72C>A) c.*202+3073C>A (n.*202+3073C>A) | gnomAD v4 |
| 15 | g.43067828G>A | CA2173020121 | UBR1 | c.798+70C>T (n.798+70C>T) c.*202+3071C>T (n.*202+3071C>T) | dbSNP gnomAD v4 |
| 15 | g.43067828G= | CA2173020120 | UBR1 | c.798+70C= (n.798+70C=) c.*202+3071C= (n.*202+3071C=) | |
| 15 | g.43067828G>T | CA2575700194 | UBR1 | c.798+70C>A (n.798+70C>A) c.*202+3071C>A (n.*202+3071C>A) | |
| 15 | g.43067829C>A | CA2628093595 | UBR1 | c.798+69G>T (n.798+69G>T) c.*202+3070G>T (n.*202+3070G>T) | gnomAD v4 |
| 15 | g.43067829C>T | CA2628093596 | UBR1 | c.798+69G>A (n.798+69G>A) c.*202+3070G>A (n.*202+3070G>A) | gnomAD v4 |
| 15 | g.43067831C>T | CA2628093597 | UBR1 | c.798+67G>A (n.798+67G>A) c.*202+3068G>A (n.*202+3068G>A) | gnomAD v4 |
| 15 | g.43067832A>G | CA2575700195 | UBR1 | c.798+66T>C (n.798+66T>C) c.*202+3067T>C (n.*202+3067T>C) | gnomAD v4 |
| 15 | g.43067837A>T | CA2575700196 | UBR1 | c.798+61T>A (n.798+61T>A) c.*202+3062T>A (n.*202+3062T>A) | |
| 15 | g.43067839A>G | CA2628093598 | UBR1 | c.798+59T>C (n.798+59T>C) c.*202+3060T>C (n.*202+3060T>C) | gnomAD v4 |
| 15 | g.43067840T>C | CA2730854056 | UBR1 | c.798+58A>G (n.798+58A>G) c.*202+3059A>G (n.*202+3059A>G) | dbSNP |
| 15 | g.43067841C= | CA2173020122 | UBR1 | c.798+57G= (n.798+57G=) c.*202+3058G= (n.*202+3058G=) | |
| 15 | g.43067841C>G | CA712969337 | UBR1 | c.798+57G>C (n.798+57G>C) c.*202+3058G>C (n.*202+3058G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43067844G>A | CA2628093600 | UBR1 | c.798+54C>T (n.798+54C>T) c.*202+3055C>T (n.*202+3055C>T) | gnomAD v4 |
| 15 | g.43067844G>T | CA2628093599 | UBR1 | c.798+54C>A (n.798+54C>A) c.*202+3055C>A (n.*202+3055C>A) | gnomAD v4 |
| 15 | g.43067845C= | CA2173020123 | UBR1 | c.798+53G= (n.798+53G=) c.*202+3054G= (n.*202+3054G=) | |
| 15 | g.43067845C>T | CA969160973 | UBR1 | c.798+53G>A (n.798+53G>A) c.*202+3054G>A (n.*202+3054G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43067846T>G | CA2628093601 | UBR1 | c.798+52A>C (n.798+52A>C) c.*202+3053A>C (n.*202+3053A>C) | gnomAD v4 |
| 15 | g.43067851G>A | CA2575700197 | UBR1 | c.798+47C>T (n.798+47C>T) c.*202+3048C>T (n.*202+3048C>T) | |
| 15 | g.43067852G>A | CA2575700198 | UBR1 | c.798+46C>T (n.798+46C>T) c.*202+3047C>T (n.*202+3047C>T) | |
| 15 | g.43067852_43067853delinsGA | CA2173020124 | UBR1 | c.798+45_798+46delinsTC (n.798+45_798+46delinsTC) c.*202+3046_*202+3047delinsTC (n.*202+3046_*202+3047delinsTC) | |
| 15 | g.43067853A= | CA2173020125 | UBR1 | c.798+45T= (n.798+45T=) c.*202+3046T= (n.*202+3046T=) | |
| 15 | g.43067853A>G | CA617634721 | UBR1 | c.798+45T>C (n.798+45T>C) c.*202+3046T>C (n.*202+3046T>C) | dbSNP gnomAD v2 |
| 15 | g.43067854del | CA617634720 | UBR1 | c.798+45del (n.798+45del) c.*202+3046del (n.*202+3046del) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.43067854A= | CA2173020127 | UBR1 | c.798+44T= (n.798+44T=) c.*202+3045T= (n.*202+3045T=) | |
| 15 | g.43067854A>C | CA2173020126 | UBR1 | c.798+44T>G (n.798+44T>G) c.*202+3045T>G (n.*202+3045T>G) | dbSNP gnomAD v4 |
| 15 | g.43067854A>G | CA7518920 | UBR1 | c.798+44T>C (n.798+44T>C) c.*202+3045T>C (n.*202+3045T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.43067855G>C | CA617634722 | UBR1 | c.798+43C>G (n.798+43C>G) c.*202+3044C>G (n.*202+3044C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.43067855G= | CA2173020128 | UBR1 | c.798+43C= (n.798+43C=) c.*202+3044C= (n.*202+3044C=) | |
| 15 | g.43067856C= | CA2173020129 | UBR1 | c.798+42G= (n.798+42G=) c.*202+3043G= (n.*202+3043G=) | |
| 15 | g.43067856C>T | CA617634723 | UBR1 | c.798+42G>A (n.798+42G>A) c.*202+3043G>A (n.*202+3043G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.43067857T>C | CA2575700199 | UBR1 | c.798+41A>G (n.798+41A>G) c.*202+3042A>G (n.*202+3042A>G) | |
| 15 | g.43067858G>A | CA2575700200 | UBR1 | c.798+40C>T (n.798+40C>T) c.*202+3041C>T (n.*202+3041C>T) | |
| 15 | g.43067860C>A | CA712969349 | UBR1 | c.798+38G>T (n.798+38G>T) c.*202+3039G>T (n.*202+3039G>T) | dbSNP gnomAD v4 |
| 15 | g.43067860C= | CA2173020130 | UBR1 | c.798+38G= (n.798+38G=) c.*202+3039G= (n.*202+3039G=) | |
| 15 | g.43067860C>G | CA712969350 | UBR1 | c.798+38G>C (n.798+38G>C) c.*202+3039G>C (n.*202+3039G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43067860C>T | CA7518921 | UBR1 | c.798+38G>A (n.798+38G>A) c.*202+3039G>A (n.*202+3039G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43067861A>G | CA2628093602 | UBR1 | c.798+37T>C (n.798+37T>C) c.*202+3038T>C (n.*202+3038T>C) | gnomAD v4 |
| 15 | g.43067862G>C | CA2628093603 | UBR1 | c.798+36C>G (n.798+36C>G) c.*202+3037C>G (n.*202+3037C>G) | gnomAD v4 |
| 15 | g.43067865A>G | CA2628093604 | UBR1 | c.798+33T>C (n.798+33T>C) c.*202+3034T>C (n.*202+3034T>C) | gnomAD v4 |
| 15 | g.43067867C>T | CA2803932012 | UBR1 | c.798+31G>A (n.798+31G>A) c.*202+3032G>A (n.*202+3032G>A) | |
| 15 | g.43067868A= | CA2173020131 | UBR1 | c.798+30T= (n.798+30T=) c.*202+3031T= (n.*202+3031T=) | |
| 15 | g.43067868A>G | CA969160975 | UBR1 | c.798+30T>C (n.798+30T>C) c.*202+3031T>C (n.*202+3031T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43067868A>T | CA2173020132 | UBR1 | c.798+30T>A (n.798+30T>A) c.*202+3031T>A (n.*202+3031T>A) | dbSNP |
| 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) |