Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.80280082_80280099delinsGATCTTAAAAATGACACA | CA1922577730 | MAT1A | c.549+74_549+91delinsTGTGTCATTTTTAAGATC (n.549+74_549+91delinsTGTGTCATTTTTAAGATC) c.360+74_360+91delinsTGTGTCATTTTTAAGATC (n.360+74_360+91delinsTGTGTCATTTTTAAGATC) c.426+74_426+91delinsTGTGTCATTTTTAAGATC (n.426+74_426+91delinsTGTGTCATTTTTAAGATC) | |
10 | g.80280086_80280102del | CA668888232 | MAT1A | c.549+74_549+90del (n.549+74_549+90del) c.360+74_360+90del (n.360+74_360+90del) c.426+74_426+90del (n.426+74_426+90del) | dbSNP gnomAD v4 |
10 | g.80280095A>G | CA2609913813 | MAT1A | c.549+78T>C (n.549+78T>C) c.360+78T>C (n.360+78T>C) c.426+78T>C (n.426+78T>C) | gnomAD v4 |
10 | g.80280096C>A | CA668888241 | MAT1A | c.549+77G>T (n.549+77G>T) c.360+77G>T (n.360+77G>T) c.426+77G>T (n.426+77G>T) | dbSNP gnomAD v4 |
10 | g.80280096C= | CA1922577755 | MAT1A | c.549+77G= (n.549+77G=) c.360+77G= (n.360+77G=) c.426+77G= (n.426+77G=) | |
10 | g.80280096C>T | CA210326731 | MAT1A | c.549+77G>A (n.549+77G>A) c.360+77G>A (n.360+77G>A) c.426+77G>A (n.426+77G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.80280097A= | CA1922577759 | MAT1A | c.549+76T= (n.549+76T=) c.360+76T= (n.360+76T=) c.426+76T= (n.426+76T=) | |
10 | g.80280097A>T | CA930360206 | MAT1A | c.549+76T>A (n.549+76T>A) c.360+76T>A (n.360+76T>A) c.426+76T>A (n.426+76T>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.80280098C>A | CA2609913814 | MAT1A | c.549+75G>T (n.549+75G>T) c.360+75G>T (n.360+75G>T) c.426+75G>T (n.426+75G>T) | gnomAD v4 |
10 | g.80280098C>G | CA2609913815 | MAT1A | c.549+75G>C (n.549+75G>C) c.360+75G>C (n.360+75G>C) c.426+75G>C (n.426+75G>C) | gnomAD v4 |
10 | g.80280098C>T | CA2574455880 | MAT1A | c.549+75G>A (n.549+75G>A) c.360+75G>A (n.360+75G>A) c.426+75G>A (n.426+75G>A) | gnomAD v4 |
10 | g.80280098_80280105delinsCAATCAAG | CA1922577761 | MAT1A | c.549+68_549+75delinsCTTGATTG (n.549+68_549+75delinsCTTGATTG) c.360+68_360+75delinsCTTGATTG (n.360+68_360+75delinsCTTGATTG) c.426+68_426+75delinsCTTGATTG (n.426+68_426+75delinsCTTGATTG) | |
10 | g.80280107_80280113del | CA668888247 | MAT1A | c.549+68_549+74del (n.549+68_549+74del) c.360+68_360+74del (n.360+68_360+74del) c.426+68_426+74del (n.426+68_426+74del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.80280100A= | CA1922577763 | MAT1A | c.549+73T= (n.549+73T=) c.360+73T= (n.360+73T=) c.426+73T= (n.426+73T=) | |
10 | g.80280100A>G | CA930360210 | MAT1A | c.549+73T>C (n.549+73T>C) c.360+73T>C (n.360+73T>C) c.426+73T>C (n.426+73T>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.80280101T>C | CA2609913816 | MAT1A | c.549+72A>G (n.549+72A>G) c.360+72A>G (n.360+72A>G) c.426+72A>G (n.426+72A>G) | gnomAD v4 |
10 | g.80280103A= | CA1922577766 | MAT1A | c.549+70T= (n.549+70T=) c.360+70T= (n.360+70T=) c.426+70T= (n.426+70T=) | |
10 | g.80280103A>G | CA210326739 | MAT1A | c.549+70T>C (n.549+70T>C) c.360+70T>C (n.360+70T>C) c.426+70T>C (n.426+70T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.80280104A= | CA1922577768 | MAT1A | c.549+69T= (n.549+69T=) c.360+69T= (n.360+69T=) c.426+69T= (n.426+69T=) | |
10 | g.80280104A>C | CA210326744 | MAT1A | c.549+69T>G (n.549+69T>G) c.360+69T>G (n.360+69T>G) c.426+69T>G (n.426+69T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.80280105G>T | CA2609913817 | MAT1A | c.549+68C>A (n.549+68C>A) c.360+68C>A (n.360+68C>A) c.426+68C>A (n.426+68C>A) | gnomAD v4 |
10 | g.80280107A>T | CA2722252482 | MAT1A | c.549+66T>A (n.549+66T>A) c.360+66T>A (n.360+66T>A) c.426+66T>A (n.426+66T>A) | dbSNP |
10 | g.80280108T>C | CA2609913818 | MAT1A | c.549+65A>G (n.549+65A>G) c.360+65A>G (n.360+65A>G) c.426+65A>G (n.426+65A>G) | gnomAD v4 |
10 | g.80280109C= | CA1922577770 | MAT1A | c.549+64G= (n.549+64G=) c.360+64G= (n.360+64G=) c.426+64G= (n.426+64G=) | |
10 | g.80280109C>G | CA930360213 | MAT1A | c.549+64G>C (n.549+64G>C) c.360+64G>C (n.360+64G>C) c.426+64G>C (n.426+64G>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.80280109C>T | CA1922577771 | MAT1A | c.549+64G>A (n.549+64G>A) c.360+64G>A (n.360+64G>A) c.426+64G>A (n.426+64G>A) | dbSNP gnomAD v4 |
10 | g.80280110A>G | CA2609913819 | MAT1A | c.549+63T>C (n.549+63T>C) c.360+63T>C (n.360+63T>C) c.426+63T>C (n.426+63T>C) | gnomAD v4 |
10 | g.80280112G>C | CA2574455890 | MAT1A | c.549+61C>G (n.549+61C>G) c.360+61C>G (n.360+61C>G) c.426+61C>G (n.426+61C>G) | |
10 | g.80280113A>G | CA2609913820 | MAT1A | c.549+60T>C (n.549+60T>C) c.360+60T>C (n.360+60T>C) c.426+60T>C (n.426+60T>C) | gnomAD v4 |
10 | g.80280115G= | CA1922577773 | MAT1A | c.549+58C= (n.549+58C=) c.360+58C= (n.360+58C=) c.426+58C= (n.426+58C=) | |
10 | g.80280115G>T | CA210326753 | MAT1A | c.549+58C>A (n.549+58C>A) c.360+58C>A (n.360+58C>A) c.426+58C>A (n.426+58C>A) | dbSNP gnomAD v4 |
10 | g.80280117T>C | CA1922577776 | MAT1A | c.549+56A>G (n.549+56A>G) c.360+56A>G (n.360+56A>G) c.426+56A>G (n.426+56A>G) | dbSNP |
10 | g.80280117T>G | CA2609913821 | MAT1A | c.549+56A>C (n.549+56A>C) c.360+56A>C (n.360+56A>C) c.426+56A>C (n.426+56A>C) | gnomAD v4 |
10 | g.80280117T= | CA1922577775 | MAT1A | c.549+56A= (n.549+56A=) c.360+56A= (n.360+56A=) c.426+56A= (n.426+56A=) | |
10 | g.80280118T>G | CA2609913822 | MAT1A | c.549+55A>C (n.549+55A>C) c.360+55A>C (n.360+55A>C) c.426+55A>C (n.426+55A>C) | gnomAD v4 |
10 | g.80280119T>G | CA668888260 | MAT1A | c.549+54A>C (n.549+54A>C) c.360+54A>C (n.360+54A>C) c.426+54A>C (n.426+54A>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.80280119T= | CA1922577777 | MAT1A | c.549+54A= (n.549+54A=) c.360+54A= (n.360+54A=) c.426+54A= (n.426+54A=) | |
10 | g.80280120G>A | CA2609913824 | MAT1A | c.549+53C>T (n.549+53C>T) c.360+53C>T (n.360+53C>T) c.426+53C>T (n.426+53C>T) | gnomAD v4 |
10 | g.80280120G= | CA1922577780 | MAT1A | c.549+53C= (n.549+53C=) c.360+53C= (n.360+53C=) c.426+53C= (n.426+53C=) | |
10 | g.80280120G>T | CA1922577781 | MAT1A | c.549+53C>A (n.549+53C>A) c.360+53C>A (n.360+53C>A) c.426+53C>A (n.426+53C>A) | dbSNP gnomAD v4 |
10 | g.80280124del | CA2609913823 | MAT1A | c.549+53del (n.549+53del) c.360+53del (n.360+53del) c.426+53del (n.426+53del) | gnomAD v4 |
10 | g.80280121G>A | CA2609913825 | MAT1A | c.549+52C>T (n.549+52C>T) c.360+52C>T (n.360+52C>T) c.426+52C>T (n.426+52C>T) | gnomAD v4 |
10 | g.80280121G>C | CA210326759 | MAT1A | c.549+52C>G (n.549+52C>G) c.360+52C>G (n.360+52C>G) c.426+52C>G (n.426+52C>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.80280121G= | CA1922577783 | MAT1A | c.549+52C= (n.549+52C=) c.360+52C= (n.360+52C=) c.426+52C= (n.426+52C=) | |
10 | g.80280121G>T | CA2609913826 | MAT1A | c.549+52C>A (n.549+52C>A) c.360+52C>A (n.360+52C>A) c.426+52C>A (n.426+52C>A) | gnomAD v4 |
10 | g.80280122G>A | CA210326764 | MAT1A | c.549+51C>T (n.549+51C>T) c.360+51C>T (n.360+51C>T) c.426+51C>T (n.426+51C>T) | dbSNP |
10 | g.80280122G= | CA1922577786 | MAT1A | c.549+51C= (n.549+51C=) c.360+51C= (n.360+51C=) c.426+51C= (n.426+51C=) | |
10 | g.80280122G>T | CA2574455895 | MAT1A | c.549+51C>A (n.549+51C>A) c.360+51C>A (n.360+51C>A) c.426+51C>A (n.426+51C>A) | gnomAD v4 |
10 | g.80280123G= | CA1922577789 | MAT1A | c.549+50C= (n.549+50C=) c.360+50C= (n.360+50C=) c.426+50C= (n.426+50C=) | |
10 | g.80280123G>T | CA1922577791 | MAT1A | c.549+50C>A (n.549+50C>A) c.360+50C>A (n.360+50C>A) c.426+50C>A (n.426+50C>A) | dbSNP gnomAD v4 |
10 | g.80280124G>C | CA2722014047 | MAT1A | c.549+49C>G (n.549+49C>G) c.360+49C>G (n.360+49C>G) c.426+49C>G (n.426+49C>G) | dbSNP |
10 | g.80280124G= | CA1922577793 | MAT1A | c.549+49C= (n.549+49C=) c.360+49C= (n.360+49C=) c.426+49C= (n.426+49C=) | |
10 | g.80280124G>T | CA5576765 | MAT1A | c.549+49C>A (n.549+49C>A) c.360+49C>A (n.360+49C>A) c.426+49C>A (n.426+49C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.80280125T>C | CA2609913827 | MAT1A | c.549+48A>G (n.549+48A>G) c.360+48A>G (n.360+48A>G) c.426+48A>G (n.426+48A>G) | gnomAD v4 |
10 | g.80280126A= | CA1922577796 | MAT1A | c.549+47T= (n.549+47T=) c.360+47T= (n.360+47T=) c.426+47T= (n.426+47T=) | |
10 | g.80280126A>G | CA1922577798 | MAT1A | c.549+47T>C (n.549+47T>C) c.360+47T>C (n.360+47T>C) c.426+47T>C (n.426+47T>C) | dbSNP |
10 | g.80280127T>C | CA594462412 | MAT1A | c.549+46A>G (n.549+46A>G) c.360+46A>G (n.360+46A>G) c.426+46A>G (n.426+46A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.80280127T= | CA1922577799 | MAT1A | c.549+46A= (n.549+46A=) c.360+46A= (n.360+46A=) c.426+46A= (n.426+46A=) | |
10 | g.80280128T>C | CA2609913828 | MAT1A | c.549+45A>G (n.549+45A>G) c.360+45A>G (n.360+45A>G) c.426+45A>G (n.426+45A>G) | gnomAD v4 |
10 | g.80280128_80280129delinsTA | CA1922577801 | MAT1A | c.549+44_549+45delinsTA (n.549+44_549+45delinsTA) c.360+44_360+45delinsTA (n.360+44_360+45delinsTA) c.426+44_426+45delinsTA (n.426+44_426+45delinsTA) | |
10 | g.80280129A= | CA1922577803 | MAT1A | c.549+44T= (n.549+44T=) c.360+44T= (n.360+44T=) c.426+44T= (n.426+44T=) | |
10 | g.80280129A>C | CA668888264 | MAT1A | c.549+44T>G (n.549+44T>G) c.360+44T>G (n.360+44T>G) c.426+44T>G (n.426+44T>G) | dbSNP gnomAD v4 |
10 | g.80280129A>G | CA2609913829 | MAT1A | c.549+44T>C (n.549+44T>C) c.360+44T>C (n.360+44T>C) c.426+44T>C (n.426+44T>C) | gnomAD v4 |
10 | g.80280131del | CA594462415 | MAT1A | c.549+44del (n.549+44del) c.360+44del (n.360+44del) c.426+44del (n.426+44del) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.80280131A= | CA1922577806 | MAT1A | c.549+42T= (n.549+42T=) c.360+42T= (n.360+42T=) c.426+42T= (n.426+42T=) | |
10 | g.80280131A>C | CA2574455902 | MAT1A | c.549+42T>G (n.549+42T>G) c.360+42T>G (n.360+42T>G) c.426+42T>G (n.426+42T>G) | |
10 | g.80280131A>T | CA210326782 | MAT1A | c.549+42T>A (n.549+42T>A) c.360+42T>A (n.360+42T>A) c.426+42T>A (n.426+42T>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.80280132G>C | CA210326791 | MAT1A | c.549+41C>G (n.549+41C>G) c.360+41C>G (n.360+41C>G) c.426+41C>G (n.426+41C>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.80280132G= | CA1922577809 | MAT1A | c.549+41C= (n.549+41C=) c.360+41C= (n.360+41C=) c.426+41C= (n.426+41C=) | |
10 | g.80280132G>T | CA2574455907 | MAT1A | c.549+41C>A (n.549+41C>A) c.360+41C>A (n.360+41C>A) c.426+41C>A (n.426+41C>A) | gnomAD v4 |
10 | g.80280136_80280137del | CA2609913830 | MAT1A | c.549+37_549+38del (n.549+37_549+38del) c.360+37_360+38del (n.360+37_360+38del) c.426+37_426+38del (n.426+37_426+38del) | gnomAD v4 |
10 | g.80280138_80280149del | CA2609913831 | MAT1A | c.549+27_549+38del (n.549+27_549+38del) c.360+27_360+38del (n.360+27_360+38del) c.426+27_426+38del (n.426+27_426+38del) | gnomAD v4 |
10 | g.80280137T>C | CA5576766 | MAT1A | c.549+36A>G (n.549+36A>G) c.360+36A>G (n.360+36A>G) c.426+36A>G (n.426+36A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.80280137T= | CA1922577811 | MAT1A | c.549+36A= (n.549+36A=) c.360+36A= (n.360+36A=) c.426+36A= (n.426+36A=) | |
10 | g.80280138G>C | CA2609913832 | MAT1A | c.549+35C>G (n.549+35C>G) c.360+35C>G (n.360+35C>G) c.426+35C>G (n.426+35C>G) | gnomAD v4 |
10 | g.80280140C>A | CA2513615396 | MAT1A | c.549+33G>T (n.549+33G>T) c.360+33G>T (n.360+33G>T) c.426+33G>T (n.426+33G>T) | |
10 | g.80280140C= | CA1922577812 | MAT1A | c.549+33G= (n.549+33G=) c.360+33G= (n.360+33G=) c.426+33G= (n.426+33G=) | |
10 | g.80280140C>T | CA1922577813 | MAT1A | c.549+33G>A (n.549+33G>A) c.360+33G>A (n.360+33G>A) c.426+33G>A (n.426+33G>A) | dbSNP |
10 | g.80280145G>A | CA594462424 | MAT1A | c.549+28C>T (n.549+28C>T) c.360+28C>T (n.360+28C>T) c.426+28C>T (n.426+28C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.80280145G= | CA1922577814 | MAT1A | c.549+28C= (n.549+28C=) c.360+28C= (n.360+28C=) c.426+28C= (n.426+28C=) | |
10 | g.80280145G>T | CA2609913833 | MAT1A | c.549+28C>A (n.549+28C>A) c.360+28C>A (n.360+28C>A) c.426+28C>A (n.426+28C>A) | gnomAD v4 |
10 | g.80280146C= | CA1922577816 | MAT1A | c.549+27G= (n.549+27G=) c.360+27G= (n.360+27G=) c.426+27G= (n.426+27G=) | |
10 | g.80280146C>T | CA1922577817 | MAT1A | c.549+27G>A (n.549+27G>A) c.360+27G>A (n.360+27G>A) c.426+27G>A (n.426+27G>A) | dbSNP gnomAD v4 |
10 | g.80280147T>G | CA2609913834 | MAT1A | c.549+26A>C (n.549+26A>C) c.360+26A>C (n.360+26A>C) c.426+26A>C (n.426+26A>C) | gnomAD v4 |
10 | g.80280149T>C | CA2609913835 | MAT1A | c.549+24A>G (n.549+24A>G) c.360+24A>G (n.360+24A>G) c.426+24A>G (n.426+24A>G) | gnomAD v4 |
10 | g.80280150C>T | CA2574455912 | MAT1A | c.549+23G>A (n.549+23G>A) c.360+23G>A (n.360+23G>A) c.426+23G>A (n.426+23G>A) | gnomAD v4 |
10 | g.80280152T>C | CA5576767 | MAT1A | c.549+21A>G (n.549+21A>G) c.360+21A>G (n.360+21A>G) c.426+21A>G (n.426+21A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.80280152T>G | CA2609913836 | MAT1A | c.549+21A>C (n.549+21A>C) c.360+21A>C (n.360+21A>C) c.426+21A>C (n.426+21A>C) | gnomAD v4 |
10 | g.80280152T= | CA1922577820 | MAT1A | c.549+21A= (n.549+21A=) c.360+21A= (n.360+21A=) c.426+21A= (n.426+21A=) | |
10 | g.80280153G>A | CA210326804 | MAT1A | c.549+20C>T (n.549+20C>T) c.360+20C>T (n.360+20C>T) c.426+20C>T (n.426+20C>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.80280153G>C | CA930360227 | MAT1A | c.549+20C>G (n.549+20C>G) c.360+20C>G (n.360+20C>G) c.426+20C>G (n.426+20C>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.80280153G= | CA1922577822 | MAT1A | c.549+20C= (n.549+20C=) c.360+20C= (n.360+20C=) c.426+20C= (n.426+20C=) | |
10 | g.80280153G>T | CA594462428 | MAT1A | c.549+20C>A (n.549+20C>A) c.360+20C>A (n.360+20C>A) c.426+20C>A (n.426+20C>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.80280155G>A | CA668888291 | MAT1A | c.549+18C>T (n.549+18C>T) c.360+18C>T (n.360+18C>T) c.426+18C>T (n.426+18C>T) | dbSNP |
10 | g.80280155G= | CA1922577823 | MAT1A | c.549+18C= (n.549+18C=) c.360+18C= (n.360+18C=) c.426+18C= (n.426+18C=) | |
10 | g.80280156G>T | CA2574455915 | MAT1A | c.549+17C>A (n.549+17C>A) c.360+17C>A (n.360+17C>A) c.426+17C>A (n.426+17C>A) | |
10 | g.80280157T>G | CA1922577825 | MAT1A | c.549+16A>C (n.549+16A>C) c.360+16A>C (n.360+16A>C) c.426+16A>C (n.426+16A>C) | dbSNP |
10 | g.80280157T= | CA1922577824 | MAT1A | c.549+16A= (n.549+16A=) c.360+16A= (n.360+16A=) c.426+16A= (n.426+16A=) | |
10 | g.80280159A= | CA1922577826 | MAT1A | c.549+14T= (n.549+14T=) c.360+14T= (n.360+14T=) c.426+14T= (n.426+14T=) | |
10 | g.80280159A>G | CA594462429 | MAT1A | c.549+14T>C (n.549+14T>C) c.360+14T>C (n.360+14T>C) c.426+14T>C (n.426+14T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.80280160T>C | CA2609913837 | MAT1A | c.549+13A>G (n.549+13A>G) c.360+13A>G (n.360+13A>G) c.426+13A>G (n.426+13A>G) | gnomAD v4 |
10 | g.80280165C= | CA1922577827 | MAT1A | c.549+8G= (n.549+8G=) c.360+8G= (n.360+8G=) c.426+8G= (n.426+8G=) | |
10 | g.80280165C>G | CA668888292 | MAT1A | c.549+8G>C (n.549+8G>C) c.360+8G>C (n.360+8G>C) c.426+8G>C (n.426+8G>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.80280167G>A | CA210326810 | MAT1A | c.549+6C>T (n.549+6C>T) c.360+6C>T (n.360+6C>T) c.426+6C>T (n.426+6C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.80280167G= | CA1922577828 | MAT1A | c.549+6C= (n.549+6C=) c.360+6C= (n.360+6C=) c.426+6C= (n.426+6C=) | |
10 | g.80280168C= | CA1922577829 | MAT1A | c.549+5G= (n.549+5G=) c.360+5G= (n.360+5G=) c.426+5G= (n.426+5G=) | |
10 | g.80280168C>T | CA594462432 | MAT1A | c.549+5G>A (n.549+5G>A) c.360+5G>A (n.360+5G>A) c.426+5G>A (n.426+5G>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.80280170C= | CA1922577831 | MAT1A | c.549+3G= (n.549+3G=) c.360+3G= (n.360+3G=) c.426+3G= (n.426+3G=) | |
10 | g.80280170C>G | CA668888301 | MAT1A | c.549+3G>C (n.549+3G>C) c.360+3G>C (n.360+3G>C) c.426+3G>C (n.426+3G>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.80280170C>T | CA5576768 | MAT1A | c.549+3G>A (n.549+3G>A) c.360+3G>A (n.360+3G>A) c.426+3G>A (n.426+3G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.80280171A>C | CA377362583 | MAT1A | c.549+2T>G (n.549+2T>G) c.360+2T>G (n.360+2T>G) c.426+2T>G (n.426+2T>G) | |
10 | g.80280171A>G | CA377362584 | MAT1A | c.549+2T>C (n.549+2T>C) c.360+2T>C (n.360+2T>C) c.426+2T>C (n.426+2T>C) | |
10 | g.80280171A>T | CA377362585 | MAT1A | c.549+2T>A (n.549+2T>A) c.360+2T>A (n.360+2T>A) c.426+2T>A (n.426+2T>A) | |
10 | g.80280172C>A | CA377362586 | MAT1A | c.549+1G>T (n.549+1G>T) c.360+1G>T (n.360+1G>T) c.426+1G>T (n.426+1G>T) | |
10 | g.80280172C>G | CA377362587 | MAT1A | c.549+1G>C (n.549+1G>C) c.360+1G>C (n.360+1G>C) c.426+1G>C (n.426+1G>C) | |
10 | g.80280172C>T | CA377362588 | MAT1A | c.549+1G>A (n.549+1G>A) c.360+1G>A (n.360+1G>A) c.426+1G>A (n.426+1G>A) | dbSNP |
10 | g.80280173C>A | CA377362589 | MAT1A | c.549G>T (p.Gln183His) c.360G>T (p.Gln120His) c.426G>T (p.Gln142His) | |
10 | g.80280173C>G | CA377362590 | MAT1A | c.549G>C (p.Gln183His) c.360G>C (p.Gln120His) c.426G>C (p.Gln142His) | |
10 | g.80280173C>T | CA470467954 | MAT1A | c.549G>A (p.Gln183=) c.360G>A (p.Gln120=) c.426G>A (p.Gln142=) | |
10 | g.80280174T>A | CA377362591 | MAT1A | c.548A>T (p.Gln183Leu) c.359A>T (p.Gln120Leu) c.425A>T (p.Gln142Leu) | |
10 | g.80280174T>C | CA377362592 | MAT1A | c.548A>G (p.Gln183Arg) c.359A>G (p.Gln120Arg) c.425A>G (p.Gln142Arg) | gnomAD v4 |
10 | g.80280174T>G | CA5576769 | MAT1A | c.548A>C (p.Gln183Pro) c.359A>C (p.Gln120Pro) c.425A>C (p.Gln142Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.80280174T= | CA1922577835 | MAT1A | c.548A= (p.Gln183=) c.359A= (p.Gln120=) c.425A= (p.Gln142=) | |
10 | g.80280175G>A | CA377362594 | MAT1A | c.547C>T (p.Gln183Ter) c.358C>T (p.Gln120Ter) c.424C>T (p.Gln142Ter) | |
10 | g.80280175G>C | CA377362595 | MAT1A | c.547C>G (p.Gln183Glu) c.358C>G (p.Gln120Glu) c.424C>G (p.Gln142Glu) | gnomAD v4 |
10 | g.80280175G>T | CA377362593 | MAT1A | c.547C>A (p.Gln183Lys) c.358C>A (p.Gln120Lys) c.424C>A (p.Gln142Lys) | ClinVar |
10 | g.80280176A= | CA1922577836 | MAT1A | c.546T= (p.Thr182=) c.357T= (p.Thr119=) c.423T= (p.Thr141=) | |
10 | g.80280176A>C | CA470467967 | MAT1A | c.546T>G (p.Thr182=) c.357T>G (p.Thr119=) c.423T>G (p.Thr141=) | |
10 | g.80280176A>G | CA470467970 | MAT1A | c.546T>C (p.Thr182=) c.357T>C (p.Thr119=) c.423T>C (p.Thr141=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.80280176A>T | CA470467972 | MAT1A | c.546T>A (p.Thr182=) c.357T>A (p.Thr119=) c.423T>A (p.Thr141=) | |
10 | g.80280177G>A | CA377362596 | MAT1A | c.545C>T (p.Thr182Ile) c.356C>T (p.Thr119Ile) c.422C>T (p.Thr141Ile) | ClinVar |
10 | g.80280177G>C | CA377362597 | MAT1A | c.545C>G (p.Thr182Ser) c.356C>G (p.Thr119Ser) c.422C>G (p.Thr141Ser) | |
10 | g.80280177G>T | CA377362598 | MAT1A | c.545C>A (p.Thr182Asn) c.356C>A (p.Thr119Asn) c.422C>A (p.Thr141Asn) | |
10 | g.80280178T>A | CA377362599 | MAT1A | c.544A>T (p.Thr182Ser) c.355A>T (p.Thr119Ser) c.421A>T (p.Thr141Ser) | |
10 | g.80280178T>C | CA377362600 | MAT1A | c.544A>G (p.Thr182Ala) c.355A>G (p.Thr119Ala) c.421A>G (p.Thr141Ala) | |
10 | g.80280178T>G | CA377362601 | MAT1A | c.544A>C (p.Thr182Pro) c.355A>C (p.Thr119Pro) c.421A>C (p.Thr141Pro) | |
10 | g.80280179C>A | CA377362603 | MAT1A | c.543G>T (p.Lys181Asn) c.354G>T (p.Lys118Asn) c.420G>T (p.Lys140Asn) | |
10 | g.80280179C>G | CA377362602 | MAT1A | c.543G>C (p.Lys181Asn) c.354G>C (p.Lys118Asn) c.420G>C (p.Lys140Asn) | |
10 | g.80280179C>T | CA470467986 | MAT1A | c.543G>A (p.Lys181=) c.354G>A (p.Lys118=) c.420G>A (p.Lys140=) | |
10 | g.80280180T>A | CA377362604 | MAT1A | c.542A>T (p.Lys181Met) c.353A>T (p.Lys118Met) c.419A>T (p.Lys140Met) | |
10 | g.80280180T>C | CA377362605 | MAT1A | c.542A>G (p.Lys181Arg) c.353A>G (p.Lys118Arg) c.419A>G (p.Lys140Arg) | |
10 | g.80280180T>G | CA377362606 | MAT1A | c.542A>C (p.Lys181Thr) c.353A>C (p.Lys118Thr) c.419A>C (p.Lys140Thr) | |
10 | g.80280181T>A | CA377362607 | MAT1A | c.541A>T (p.Lys181Ter) c.352A>T (p.Lys118Ter) c.418A>T (p.Lys140Ter) | |
10 | g.80280181T>C | CA377362608 | MAT1A | c.541A>G (p.Lys181Glu) c.352A>G (p.Lys118Glu) c.418A>G (p.Lys140Glu) | |
10 | g.80280181T>G | CA377362609 | MAT1A | c.541A>C (p.Lys181Gln) c.352A>C (p.Lys118Gln) c.418A>C (p.Lys140Gln) | gnomAD v4 |
10 | g.80280182A= | CA1922577838 | MAT1A | c.540T= (p.Ser180=) c.351T= (p.Ser117=) c.417T= (p.Ser139=) | |
10 | g.80280182A>C | CA470468003 | MAT1A | c.540T>G (p.Ser180=) c.351T>G (p.Ser117=) c.417T>G (p.Ser139=) | |
10 | g.80280182A>G | CA470468005 | MAT1A | c.540T>C (p.Ser180=) c.351T>C (p.Ser117=) c.417T>C (p.Ser139=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.80280182A>T | CA470468008 | MAT1A | c.540T>A (p.Ser180=) c.351T>A (p.Ser117=) c.417T>A (p.Ser139=) | |
10 | g.80280182dup | CA2574455921 | MAT1A | c.540dup (p.Lys181Ter) c.351dup (p.Lys118Ter) c.417dup (p.Lys140Ter) | |
10 | g.80280183G>A | CA377362610 | MAT1A | c.539C>T (p.Ser180Phe) c.350C>T (p.Ser117Phe) c.416C>T (p.Ser139Phe) | |
10 | g.80280183G>C | CA377362612 | MAT1A | c.539C>G (p.Ser180Cys) c.350C>G (p.Ser117Cys) c.416C>G (p.Ser139Cys) | dbSNP gnomAD v4 |
10 | g.80280183G= | CA1922577840 | MAT1A | c.539C= (p.Ser180=) c.350C= (p.Ser117=) c.416C= (p.Ser139=) | |
10 | g.80280183G>T | CA377362611 | MAT1A | c.539C>A (p.Ser180Tyr) c.350C>A (p.Ser117Tyr) c.416C>A (p.Ser139Tyr) | |
10 | g.80280183_80280184insCA | CA210326818 | MAT1A | c.538_539insTG (p.Ser180LeufsTer6) c.349_350insTG (p.Ser117LeufsTer6) c.415_416insTG (p.Ser139LeufsTer6) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.80280184A>C | CA377362613 | MAT1A | c.538T>G (p.Ser180Ala) c.349T>G (p.Ser117Ala) c.415T>G (p.Ser139Ala) | |
10 | g.80280184A>G | CA377362614 | MAT1A | c.538T>C (p.Ser180Pro) c.349T>C (p.Ser117Pro) c.415T>C (p.Ser139Pro) | |
10 | g.80280184A>T | CA377362615 | MAT1A | c.538T>A (p.Ser180Thr) c.349T>A (p.Ser117Thr) c.415T>A (p.Ser139Thr) | |
10 | g.80280185G>A | CA470468022 | MAT1A | c.537C>T (p.Asp179=) c.348C>T (p.Asp116=) c.414C>T (p.Asp138=) | dbSNP |
10 | g.80280185G>C | CA377362616 | MAT1A | c.537C>G (p.Asp179Glu) c.348C>G (p.Asp116Glu) c.414C>G (p.Asp138Glu) | gnomAD v4 |
10 | g.80280185G= | CA1922577844 | MAT1A | c.537C= (p.Asp179=) c.348C= (p.Asp116=) c.414C= (p.Asp138=) | |
10 | g.80280185G>T | CA377362617 | MAT1A | c.537C>A (p.Asp179Glu) c.348C>A (p.Asp116Glu) c.414C>A (p.Asp138Glu) | |
10 | g.80280186T>A | CA377362618 | MAT1A | c.536A>T (p.Asp179Val) c.347A>T (p.Asp116Val) c.413A>T (p.Asp138Val) | ClinVar |
10 | g.80280186T>C | CA377362619 | MAT1A | c.536A>G (p.Asp179Gly) c.347A>G (p.Asp116Gly) c.413A>G (p.Asp138Gly) | |
10 | g.80280186T>G | CA377362620 | MAT1A | c.536A>C (p.Asp179Ala) c.347A>C (p.Asp116Ala) c.413A>C (p.Asp138Ala) | |
10 | g.80280187C>A | CA377362621 | MAT1A | c.535G>T (p.Asp179Tyr) c.346G>T (p.Asp116Tyr) c.412G>T (p.Asp138Tyr) | |
10 | g.80280187C>G | CA377362622 | MAT1A | c.535G>C (p.Asp179His) c.346G>C (p.Asp116His) c.412G>C (p.Asp138His) | |
10 | g.80280187C>T | CA377362623 | MAT1A | c.535G>A (p.Asp179Asn) c.346G>A (p.Asp116Asn) c.412G>A (p.Asp138Asn) | |
10 | g.80280188A>C | CA470468039 | MAT1A | c.534T>G (p.Pro178=) c.345T>G (p.Pro115=) c.411T>G (p.Pro137=) | |
10 | g.80280188A>G | CA470468041 | MAT1A | c.534T>C (p.Pro178=) c.345T>C (p.Pro115=) c.411T>C (p.Pro137=) | |
10 | g.80280188A>T | CA470468044 | MAT1A | c.534T>A (p.Pro178=) c.345T>A (p.Pro115=) c.411T>A (p.Pro137=) | |
10 | g.80280189G>A | CA377362626 | MAT1A | c.533C>T (p.Pro178Leu) c.344C>T (p.Pro115Leu) c.410C>T (p.Pro137Leu) | COSMIC |
10 | g.80280189G>C | CA377362625 | MAT1A | c.533C>G (p.Pro178Arg) c.344C>G (p.Pro115Arg) c.410C>G (p.Pro137Arg) | |
10 | g.80280189G>T | CA377362624 | MAT1A | c.533C>A (p.Pro178His) c.344C>A (p.Pro115His) c.410C>A (p.Pro137His) | |
10 | g.80280190G>A | CA377362627 | MAT1A | c.532C>T (p.Pro178Ser) c.343C>T (p.Pro115Ser) c.409C>T (p.Pro137Ser) | |
10 | g.80280190G>C | CA377362629 | MAT1A | c.532C>G (p.Pro178Ala) c.343C>G (p.Pro115Ala) c.409C>G (p.Pro137Ala) | |
10 | g.80280190G>T | CA377362628 | MAT1A | c.532C>A (p.Pro178Thr) c.343C>A (p.Pro115Thr) c.409C>A (p.Pro137Thr) | |
10 | g.80280191C>A | CA5576770 | MAT1A | c.531G>T (p.Arg177=) c.342G>T (p.Arg114=) c.408G>T (p.Arg136=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.80280191C= | CA1922577845 | MAT1A | c.531G= (p.Arg177=) c.342G= (p.Arg114=) c.408G= (p.Arg136=) | |
10 | g.80280191C>G | CA470468062 | MAT1A | c.531G>C (p.Arg177=) c.342G>C (p.Arg114=) c.408G>C (p.Arg136=) | |
10 | g.80280191C>T | CA470468065 | MAT1A | c.531G>A (p.Arg177=) c.342G>A (p.Arg114=) c.408G>A (p.Arg136=) | gnomAD v4 |
10 | g.80280192C>A | CA377362630 | MAT1A | c.530G>T (p.Arg177Leu) c.341G>T (p.Arg114Leu) c.407G>T (p.Arg136Leu) | |
10 | g.80280192C= | CA1922577847 | MAT1A | c.530G= (p.Arg177=) c.341G= (p.Arg114=) c.407G= (p.Arg136=) | |
10 | g.80280192C>G | CA5576772 | MAT1A | c.530G>C (p.Arg177Pro) c.341G>C (p.Arg114Pro) c.407G>C (p.Arg136Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.80280192C>T | CA5576771 | MAT1A | c.530G>A (p.Arg177Gln) c.341G>A (p.Arg114Gln) c.407G>A (p.Arg136Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.80280193G>A | CA5576773 | MAT1A | c.529C>T (p.Arg177Trp) c.340C>T (p.Arg114Trp) c.406C>T (p.Arg136Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.80280193G>C | CA377362631 | MAT1A | c.529C>G (p.Arg177Gly) c.340C>G (p.Arg114Gly) c.406C>G (p.Arg136Gly) | |
10 | g.80280193G= | CA1922577849 | MAT1A | c.529C= (p.Arg177=) c.340C= (p.Arg114=) c.406C= (p.Arg136=) | |
10 | g.80280193G>T | CA210326839 | MAT1A | c.529C>A (p.Arg177=) c.340C>A (p.Arg114=) c.406C>A (p.Arg136=) | dbSNP |
10 | g.80280194C>A | CA470468080 | MAT1A | c.528G>T (p.Leu176=) c.339G>T (p.Leu113=) c.405G>T (p.Leu135=) | |
10 | g.80280194C>G | CA470468082 | MAT1A | c.528G>C (p.Leu176=) c.339G>C (p.Leu113=) c.405G>C (p.Leu135=) | |
10 | g.80280194C>T | CA470468087 | MAT1A | c.528G>A (p.Leu176=) c.339G>A (p.Leu113=) c.405G>A (p.Leu135=) | gnomAD v4 |
10 | g.80280195A= | CA1922577852 | MAT1A | c.527T= (p.Leu176=) c.338T= (p.Leu113=) c.404T= (p.Leu135=) | |
10 | g.80280195A>C | CA377362632 | MAT1A | c.527T>G (p.Leu176Arg) c.338T>G (p.Leu113Arg) c.404T>G (p.Leu135Arg) | |
10 | g.80280195A>G | CA377362633 | MAT1A | c.527T>C (p.Leu176Pro) c.338T>C (p.Leu113Pro) c.404T>C (p.Leu135Pro) | |
10 | g.80280195A>T | CA5576774 | MAT1A | c.527T>A (p.Leu176Gln) c.338T>A (p.Leu113Gln) c.404T>A (p.Leu135Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |