Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2171679A>G | CA2574757415 | TH | c.90+18T>C (n.90+18T>C) c.102+6T>C (n.102+6T>C) | |
11 | g.2171680C= | CA1948011904 | TH | c.90+17G= (n.90+17G=) c.102+5G= (n.102+5G=) | |
11 | g.2171680C>T | CA597089845 | TH | c.90+17G>A (n.90+17G>A) c.102+5G>A (n.102+5G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2171682T>A | CA2611983801 | TH | c.90+15A>T (n.90+15A>T) c.102+3A>T (n.102+3A>T) | gnomAD v4 |
11 | g.2171683A>C | CA379112725 | TH | c.90+14T>G (n.90+14T>G) c.102+2T>G (n.102+2T>G) | |
11 | g.2171683A>G | CA379112726 | TH | c.90+14T>C (n.90+14T>C) c.102+2T>C (n.102+2T>C) | |
11 | g.2171683A>T | CA379112727 | TH | c.90+14T>A (n.90+14T>A) c.102+2T>A (n.102+2T>A) | ClinVar |
11 | g.2171684C>A | CA216229890 | TH | c.90+13G>T (n.90+13G>T) c.102+1G>T (n.102+1G>T) | ClinVar dbSNP gnomAD v4 |
11 | g.2171684C= | CA1948011909 | TH | c.90+13G= (n.90+13G=) c.102+1G= (n.102+1G=) | |
11 | g.2171684C>G | CA379112728 | TH | c.90+13G>C (n.90+13G>C) c.102+1G>C (n.102+1G>C) | |
11 | g.2171684C>T | CA5818862 | TH | c.90+13G>A (n.90+13G>A) c.102+1G>A (n.102+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171685C>A | CA379112729 | TH | c.90+12G>T (n.90+12G>T) c.102G>T (p.Gln34His) | |
11 | g.2171685C= | CA1948011916 | TH | c.90+12G= (n.90+12G=) c.102G= (p.Gln34=) | |
11 | g.2171685C>G | CA379112730 | TH | c.90+12G>C (n.90+12G>C) c.102G>C (p.Gln34His) | gnomAD v4 |
11 | g.2171685C>T | CA472019100 | TH | c.90+12G>A (n.90+12G>A) c.102G>A (p.Gln34=) | dbSNP gnomAD v4 |
11 | g.2171686T>A | CA379112731 | TH | c.90+11A>T (n.90+11A>T) c.101A>T (p.Gln34Leu) | |
11 | g.2171686T>C | CA379112732 | TH | c.90+11A>G (n.90+11A>G) c.101A>G (p.Gln34Arg) | gnomAD v4 |
11 | g.2171686T>G | CA379112733 | TH | c.90+11A>C (n.90+11A>C) c.101A>C (p.Gln34Pro) | |
11 | g.2171687G>A | CA379112734 | TH | c.90+10C>T (n.90+10C>T) c.100C>T (p.Gln34Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.2171687G>C | CA379112735 | TH | c.90+10C>G (n.90+10C>G) c.100C>G (p.Gln34Glu) | |
11 | g.2171687G= | CA1948011918 | TH | c.90+10C= (n.90+10C=) c.100C= (p.Gln34=) | |
11 | g.2171687G>T | CA379112736 | TH | c.90+10C>A (n.90+10C>A) c.100C>A (p.Gln34Lys) | |
11 | g.2171687dup | CA912971950 | TH | c.90+10dup (n.90+10dup) c.100dup (p.Gln34ProfsTer13) c.100dup (p.Gln34ProfsTer?) | |
11 | g.2171688C>A | CA5818864 | TH | c.90+9G>T (n.90+9G>T) c.99G>T (p.Gly33=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171688C= | CA1948011923 | TH | c.90+9G= (n.90+9G=) c.99G= (p.Gly33=) | |
11 | g.2171688C>G | CA472019102 | TH | c.90+9G>C (n.90+9G>C) c.99G>C (p.Gly33=) | |
11 | g.2171688C>T | CA472019103 | TH | c.90+9G>A (n.90+9G>A) c.99G>A (p.Gly33=) | ClinVar |
11 | g.2171690dup | CA5818863 | TH | c.90+9dup (n.90+9dup) c.99dup (p.Gln34AlafsTer13) c.99dup (p.Gln34AlafsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171689C>A | CA379112737 | TH | c.90+8G>T (n.90+8G>T) c.98G>T (p.Gly33Val) | |
11 | g.2171689C>G | CA379112738 | TH | c.90+8G>C (n.90+8G>C) c.98G>C (p.Gly33Ala) | |
11 | g.2171689C>T | CA379112739 | TH | c.90+8G>A (n.90+8G>A) c.98G>A (p.Gly33Glu) | gnomAD v4 |
11 | g.2171690C>A | CA5818865 | TH | c.90+7G>T (n.90+7G>T) c.97G>T (p.Gly33Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171690C= | CA1948011928 | TH | c.90+7G= (n.90+7G=) c.97G= (p.Gly33=) | |
11 | g.2171690C>G | CA379112740 | TH | c.90+7G>C (n.90+7G>C) c.97G>C (p.Gly33Arg) | gnomAD v4 |
11 | g.2171690C>T | CA5818866 | TH | c.90+7G>A (n.90+7G>A) c.97G>A (p.Gly33Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2171691T>A | CA379112741 | TH | c.90+6A>T (n.90+6A>T) c.96A>T (p.Arg32Ser) | dbSNP gnomAD v4 |
11 | g.2171691T>C | CA472019104 | TH | c.90+6A>G (n.90+6A>G) c.96A>G (p.Arg32=) | dbSNP |
11 | g.2171691T>G | CA379112742 | TH | c.90+6A>C (n.90+6A>C) c.96A>C (p.Arg32Ser) | |
11 | g.2171691T= | CA1948011932 | TH | c.90+6A= (n.90+6A=) c.96A= (p.Arg32=) | |
11 | g.2171692C>A | CA379112743 | TH | c.90+5G>T (n.90+5G>T) c.95G>T (p.Arg32Ile) | |
11 | g.2171692C= | CA1948011935 | TH | c.90+5G= (n.90+5G=) c.95G= (p.Arg32=) | |
11 | g.2171692C>G | CA379112744 | TH | c.90+5G>C (n.90+5G>C) c.95G>C (p.Arg32Thr) | |
11 | g.2171692C>T | CA379112745 | TH | c.90+5G>A (n.90+5G>A) c.95G>A (p.Arg32Lys) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2171693T>A | CA379112746 | TH | c.90+4A>T (n.90+4A>T) c.94A>T (p.Arg32Ter) | |
11 | g.2171693T>C | CA379112747 | TH | c.90+4A>G (n.90+4A>G) c.94A>G (p.Arg32Gly) | |
11 | g.2171693T>G | CA472019105 | TH | c.90+4A>C (n.90+4A>C) c.94A>C (p.Arg32=) | |
11 | g.2171693T= | CA1948011939 | TH | c.90+4A= (n.90+4A=) c.94A= (p.Arg32=) | |
11 | g.2171694dup | CA912971951 | TH | c.90+4dup (n.90+4dup) c.94dup (p.Arg32LysfsTer15) c.94dup (p.Arg32LysfsTer?) | |
11 | g.2171694T>A | CA472019106 | TH | c.90+3A>T (n.90+3A>T) c.93A>T (p.Val31=) | |
11 | g.2171694T>C | CA472019107 | TH | c.90+3A>G (n.90+3A>G) c.93A>G (p.Val31=) | |
11 | g.2171694T>G | CA472019108 | TH | c.90+3A>C (n.90+3A>C) c.93A>C (p.Val31=) | |
11 | g.2171694_2171695dup | CA658821342 | TH | c.90+2_90+3dup (n.90+2_90+3dup) c.92_93dup (p.Arg32Ter) | ClinVar dbSNP |
11 | g.2171695A>C | CA379112750 | TH | c.90+2T>G (n.90+2T>G) c.92T>G (p.Val31Gly) | |
11 | g.2171695A>G | CA379112749 | TH | c.90+2T>C (n.90+2T>C) c.92T>C (p.Val31Ala) | |
11 | g.2171695A>T | CA379112748 | TH | c.90+2T>A (n.90+2T>A) c.92T>A (p.Val31Glu) | |
11 | g.2171696C>A | CA379112751 | TH | c.90+1G>T (n.90+1G>T) c.91G>T (p.Val31Leu) | ClinVar dbSNP |
11 | g.2171696C= | CA1948011946 | TH | c.90+1G= (n.90+1G=) c.91G= (p.Val31=) | |
11 | g.2171696C>G | CA379112752 | TH | c.90+1G>C (n.90+1G>C) c.91G>C (p.Val31Leu) | gnomAD v4 |
11 | g.2171696C>T | CA379112753 | TH | c.90+1G>A (n.90+1G>A) c.91G>A (p.Val31Ile) | COSMIC |
11 | g.2171697C>A | CA379112754 | TH | c.90G>T (p.Met30Ile) | |
11 | g.2171697C= | CA1948011952 | TH | c.90G= (p.Met30=) | |
11 | g.2171697C>G | CA379112755 | TH | c.90G>C (p.Met30Ile) | |
11 | g.2171697C>T | CA5818867 | TH | c.90G>A (p.Met30Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171698A>C | CA379112756 | TH | c.89T>G (p.Met30Arg) | |
11 | g.2171698A>G | CA379112758 | TH | c.89T>C (p.Met30Thr) | gnomAD v4 |
11 | g.2171698A>T | CA379112757 | TH | c.89T>A (p.Met30Lys) | |
11 | g.2171699T>A | CA379112759 | TH | c.88A>T (p.Met30Leu) | |
11 | g.2171699T>C | CA379112760 | TH | c.88A>G (p.Met30Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2171699T>G | CA379112761 | TH | c.88A>C (p.Met30Leu) | |
11 | g.2171699T= | CA1948011955 | TH | c.88A= (p.Met30=) | |
11 | g.2171700G>A | CA472019109 | TH | c.87C>T (p.Ile29=) | |
11 | g.2171700G>C | CA379112762 | TH | c.87C>G (p.Ile29Met) | dbSNP gnomAD v4 |
11 | g.2171700G= | CA1948011957 | TH | c.87C= (p.Ile29=) | |
11 | g.2171700G>T | CA472019110 | TH | c.87C>A (p.Ile29=) | gnomAD v4 |
11 | g.2171701A>C | CA379112763 | TH | c.86T>G (p.Ile29Ser) | |
11 | g.2171701A>G | CA379112764 | TH | c.86T>C (p.Ile29Thr) | |
11 | g.2171701A>T | CA379112765 | TH | c.86T>A (p.Ile29Asn) | |
11 | g.2171702T>A | CA379112766 | TH | c.85A>T (p.Ile29Phe) | |
11 | g.2171702T>C | CA5818868 | TH | c.85A>G (p.Ile29Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171702T>G | CA379112767 | TH | c.85A>C (p.Ile29Leu) | |
11 | g.2171702T= | CA1948011962 | TH | c.85A= (p.Ile29=) | |
11 | g.2171703G>A | CA472019111 | TH | c.84C>T (p.Ala28=) | gnomAD v4 |
11 | g.2171703G>C | CA472019113 | TH | c.84C>G (p.Ala28=) | |
11 | g.2171703G>T | CA472019112 | TH | c.84C>A (p.Ala28=) | |
11 | g.2171704G>A | CA379112770 | TH | c.83C>T (p.Ala28Val) | |
11 | g.2171704G>C | CA379112769 | TH | c.83C>G (p.Ala28Gly) | |
11 | g.2171704G= | CA1948011966 | TH | c.83C= (p.Ala28=) | |
11 | g.2171704G>T | CA379112768 | TH | c.83C>A (p.Ala28Asp) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2171705C>A | CA379112771 | TH | c.82G>T (p.Ala28Ser) | |
11 | g.2171705C= | CA1948011970 | TH | c.82G= (p.Ala28=) | |
11 | g.2171705C>G | CA379112772 | TH | c.82G>C (p.Ala28Pro) | ClinVar |
11 | g.2171705C>T | CA5818869 | TH | c.82G>A (p.Ala28Thr) | dbSNP ExAC gnomAD v2 |
11 | g.2171706C>A | CA5818870 | TH | c.81G>T (p.Glu27Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171706C= | CA1948011983 | TH | c.81G= (p.Glu27=) | |
11 | g.2171706C>G | CA379112773 | TH | c.81G>C (p.Glu27Asp) | |
11 | g.2171706C>T | CA5818871 | TH | c.81G>A (p.Glu27=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171707T>A | CA379112774 | TH | c.80A>T (p.Glu27Val) | |
11 | g.2171707T>C | CA379112775 | TH | c.80A>G (p.Glu27Gly) | |
11 | g.2171707T>G | CA379112776 | TH | c.80A>C (p.Glu27Ala) | gnomAD v4 |
11 | g.2171708C>A | CA379112777 | TH | c.79G>T (p.Glu27Ter) | |
11 | g.2171708C>G | CA379112778 | TH | c.79G>C (p.Glu27Gln) | |
11 | g.2171708C>T | CA379112779 | TH | c.79G>A (p.Glu27Lys) | |
11 | g.2171708_2171709delinsCT | CA1948011995 | TH | c.78_79delinsAG (p.Ala26=) | |
11 | g.2171709del | CA1139661749 | TH | c.78del (p.Glu27ArgfsTer?) c.78del (p.Glu27ArgfsTer5) | ClinVar dbSNP |
11 | g.2171709T>A | CA472019115 | TH | c.78A>T (p.Ala26=) | |
11 | g.2171709T>C | CA472019116 | TH | c.78A>G (p.Ala26=) | ClinVar dbSNP gnomAD v4 |
11 | g.2171709T>G | CA472019117 | TH | c.78A>C (p.Ala26=) | |
11 | g.2171710G>A | CA379112781 | TH | c.77C>T (p.Ala26Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171710G>C | CA379112782 | TH | c.77C>G (p.Ala26Gly) | |
11 | g.2171710G= | CA1948012001 | TH | c.77C= (p.Ala26=) | |
11 | g.2171710G>T | CA379112780 | TH | c.77C>A (p.Ala26Glu) | |
11 | g.2171711C>A | CA379112783 | TH | c.76G>T (p.Ala26Ser) | |
11 | g.2171711C>G | CA379112784 | TH | c.76G>C (p.Ala26Pro) | |
11 | g.2171711C>T | CA379112785 | TH | c.76G>A (p.Ala26Thr) | |
11 | g.2171712C>A | CA379112786 | TH | c.75G>T (p.Gln25His) | |
11 | g.2171712C>G | CA379112787 | TH | c.75G>C (p.Gln25His) | gnomAD v4 |
11 | g.2171712C>T | CA472019118 | TH | c.75G>A (p.Gln25=) | ClinVar dbSNP gnomAD v4 |
11 | g.2171713T>A | CA379112790 | TH | c.74A>T (p.Gln25Leu) | gnomAD v4 |
11 | g.2171713T>C | CA379112788 | TH | c.74A>G (p.Gln25Arg) | |
11 | g.2171713T>G | CA379112789 | TH | c.74A>C (p.Gln25Pro) | gnomAD v4 |
11 | g.2171714G>A | CA379112791 | TH | c.73C>T (p.Gln25Ter) | dbSNP |
11 | g.2171714G>C | CA379112792 | TH | c.73C>G (p.Gln25Glu) | |
11 | g.2171714G= | CA1948012006 | TH | c.73C= (p.Gln25=) | |
11 | g.2171714G>T | CA379112793 | TH | c.73C>A (p.Gln25Lys) | gnomAD v4 |
11 | g.2171715C>A | CA379112794 | TH | c.72G>T (p.Lys24Asn) | |
11 | g.2171715C>G | CA379112795 | TH | c.72G>C (p.Lys24Asn) | |
11 | g.2171715C>T | CA472019119 | TH | c.72G>A (p.Lys24=) | COSMIC |
11 | g.2171716T>A | CA379112796 | TH | c.71A>T (p.Lys24Met) | |
11 | g.2171716T>C | CA5818872 | TH | c.71A>G (p.Lys24Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171716T>G | CA379112797 | TH | c.71A>C (p.Lys24Thr) | |
11 | g.2171716T= | CA1948012013 | TH | c.71A= (p.Lys24=) | |
11 | g.2171717T>A | CA379112798 | TH | c.70A>T (p.Lys24Ter) | |
11 | g.2171717T>C | CA379112800 | TH | c.70A>G (p.Lys24Glu) | |
11 | g.2171717T>G | CA379112799 | TH | c.70A>C (p.Lys24Gln) | |
11 | g.2171718G>A | CA472019122 | TH | c.69C>T (p.Ala23=) | ClinVar dbSNP |
11 | g.2171718G>C | CA472019120 | TH | c.69C>G (p.Ala23=) | |
11 | g.2171718G>T | CA472019121 | TH | c.69C>A (p.Ala23=) | |
11 | g.2171719G>A | CA379112801 | TH | c.68C>T (p.Ala23Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171719G>C | CA379112803 | TH | c.68C>G (p.Ala23Gly) | |
11 | g.2171719G= | CA1948012017 | TH | c.68C= (p.Ala23=) | |
11 | g.2171719G>T | CA379112802 | TH | c.68C>A (p.Ala23Asp) | |
11 | g.2171720C>A | CA379112804 | TH | c.67G>T (p.Ala23Ser) | |
11 | g.2171720C= | CA1948012026 | TH | c.67G= (p.Ala23=) | |
11 | g.2171720C>G | CA379112805 | TH | c.67G>C (p.Ala23Pro) | |
11 | g.2171720C>T | CA5818873 | TH | c.67G>A (p.Ala23Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171721G>A | CA5818874 | TH | c.66C>T (p.Asp22=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171721G>C | CA379112806 | TH | c.66C>G (p.Asp22Glu) | |
11 | g.2171721G= | CA1948012032 | TH | c.66C= (p.Asp22=) | |
11 | g.2171721G>T | CA379112807 | TH | c.66C>A (p.Asp22Glu) | gnomAD v4 |
11 | g.2171722T>A | CA379112808 | TH | c.65A>T (p.Asp22Val) | |
11 | g.2171722T>C | CA379112809 | TH | c.65A>G (p.Asp22Gly) | |
11 | g.2171722T>G | CA379112810 | TH | c.65A>C (p.Asp22Ala) | |
11 | g.2171723C>A | CA379112811 | TH | c.64G>T (p.Asp22Tyr) | gnomAD v4 |
11 | g.2171723C>G | CA379112812 | TH | c.64G>C (p.Asp22His) | |
11 | g.2171723C>T | CA379112813 | TH | c.64G>A (p.Asp22Asn) | |
11 | g.2171724C>A | CA472019123 | TH | c.63G>T (p.Leu21=) | |
11 | g.2171724C>G | CA472019124 | TH | c.63G>C (p.Leu21=) | |
11 | g.2171724C>T | CA472019125 | TH | c.63G>A (p.Leu21=) | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.2171725A>C | CA379112814 | TH | c.62T>G (p.Leu21Arg) | |
11 | g.2171725A>G | CA379112816 | TH | c.62T>C (p.Leu21Pro) | |
11 | g.2171725A>T | CA379112815 | TH | c.62T>A (p.Leu21Gln) | |
11 | g.2171726G>A | CA472019126 | TH | c.61C>T (p.Leu21=) | gnomAD v4 |
11 | g.2171726G>C | CA379112817 | TH | c.61C>G (p.Leu21Val) | gnomAD v4 |
11 | g.2171726G>T | CA379112818 | TH | c.61C>A (p.Leu21Met) | |
11 | g.2171727C>A | CA379112819 | TH | c.60G>T (p.Glu20Asp) | gnomAD v4 |
11 | g.2171727C= | CA1948012038 | TH | c.60G= (p.Glu20=) | |
11 | g.2171727C>G | CA379112820 | TH | c.60G>C (p.Glu20Asp) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2171727C>T | CA472019127 | TH | c.60G>A (p.Glu20=) | |
11 | g.2171728T>A | CA379112821 | TH | c.59A>T (p.Glu20Val) | |
11 | g.2171728T>C | CA379112822 | TH | c.59A>G (p.Glu20Gly) | |
11 | g.2171728T>G | CA379112823 | TH | c.59A>C (p.Glu20Ala) | |
11 | g.2171729C>A | CA379112824 | TH | c.58G>T (p.Glu20Ter) | |
11 | g.2171729C>G | CA379112825 | TH | c.58G>C (p.Glu20Gln) | COSMIC |
11 | g.2171729C>T | CA379112826 | TH | c.58G>A (p.Glu20Lys) | ClinVar dbSNP gnomAD v4 |
11 | g.2171730A>C | CA472019132 | TH | c.57T>G (p.Ser19=) | |
11 | g.2171730A>G | CA472019128 | TH | c.57T>C (p.Ser19=) | ClinVar |
11 | g.2171730A>T | CA472019129 | TH | c.57T>A (p.Ser19=) | |
11 | g.2171730_2171741del | CA472019130 | TH | c.46_57del (p.Arg16_Ser19del) | |
11 | g.2171731G>A | CA216229987 | TH | c.56C>T (p.Ser19Phe) | dbSNP gnomAD v4 |
11 | g.2171731G>C | CA5818875 | TH | c.56C>G (p.Ser19Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2171731G= | CA1948012043 | TH | c.56C= (p.Ser19=) | |
11 | g.2171731G>T | CA379112827 | TH | c.56C>A (p.Ser19Tyr) | |
11 | g.2171732A>C | CA379112828 | TH | c.55T>G (p.Ser19Ala) | |
11 | g.2171732A>G | CA379112829 | TH | c.55T>C (p.Ser19Pro) | |
11 | g.2171732A>T | CA379112830 | TH | c.55T>A (p.Ser19Thr) | |
11 | g.2171733C>A | CA472019133 | TH | c.54G>T (p.Val18=) | |
11 | g.2171733C>G | CA472019134 | TH | c.54G>C (p.Val18=) | |
11 | g.2171733C>T | CA472019135 | TH | c.54G>A (p.Val18=) | |
11 | g.2171734A>C | CA379112831 | TH | c.53T>G (p.Val18Gly) | gnomAD v4 |
11 | g.2171734A>G | CA379112832 | TH | c.53T>C (p.Val18Ala) | gnomAD v4 |
11 | g.2171734A>T | CA379112833 | TH | c.53T>A (p.Val18Glu) | |
11 | g.2171735C>A | CA379112834 | TH | c.52G>T (p.Val18Leu) | |
11 | g.2171735C= | CA1948012048 | TH | c.52G= (p.Val18=) | |
11 | g.2171735C>G | CA379112835 | TH | c.52G>C (p.Val18Leu) | gnomAD v4 |
11 | g.2171735C>T | CA5818876 | TH | c.52G>A (p.Val18Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.2171736G>A | CA5818877 | TH | c.51C>T (p.Ala17=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171736G>C | CA472019136 | TH | c.51C>G (p.Ala17=) | ClinVar dbSNP |
11 | g.2171736G= | CA1948012053 | TH | c.51C= (p.Ala17=) | |
11 | g.2171736G>T | CA472019137 | TH | c.51C>A (p.Ala17=) | |
11 | g.2171737del | CA2580082717 | TH | c.51del (p.Val18CysfsTer?) c.51del (p.Val18CysfsTer14) | ClinVar |
11 | g.2171737G>A | CA379112836 | TH | c.50C>T (p.Ala17Val) | gnomAD v4 |
11 | g.2171737G>C | CA379112837 | TH | c.50C>G (p.Ala17Gly) | |
11 | g.2171737G>T | CA379112838 | TH | c.50C>A (p.Ala17Asp) | ClinVar dbSNP |
11 | g.2171738C>A | CA379112841 | TH | c.49G>T (p.Ala17Ser) | |
11 | g.2171738C= | CA1948012055 | TH | c.49G= (p.Ala17=) | |
11 | g.2171738C>G | CA379112840 | TH | c.49G>C (p.Ala17Pro) | dbSNP |
11 | g.2171738C>T | CA379112839 | TH | c.49G>A (p.Ala17Thr) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2171739C>A | CA379112842 | TH | c.48G>T (p.Arg16Ser) | |
11 | g.2171739C>G | CA379112843 | TH | c.48G>C (p.Arg16Ser) | |
11 | g.2171739C>T | CA472019139 | TH | c.48G>A (p.Arg16=) | |
11 | g.2171740C>A | CA379112844 | TH | c.47G>T (p.Arg16Met) | |
11 | g.2171740C= | CA1948012058 | TH | c.47G= (p.Arg16=) | |
11 | g.2171740C>G | CA5818878 | TH | c.47G>C (p.Arg16Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2171740C>T | CA379112845 | TH | c.47G>A (p.Arg16Lys) | |
11 | g.2171741T>A | CA5818879 | TH | c.46A>T (p.Arg16Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171741T>C | CA379112846 | TH | c.46A>G (p.Arg16Gly) | ClinVar |
11 | g.2171741T>G | CA472019140 | TH | c.46A>C (p.Arg16=) | |
11 | g.2171741T= | CA1948012060 | TH | c.46A= (p.Arg16=) | |
11 | g.2171742G>A | CA472019141 | TH | c.45C>T (p.Arg15=) | ClinVar |
11 | g.2171742G>C | CA472019142 | TH | c.45C>G (p.Arg15=) | |
11 | g.2171742G>T | CA472019143 | TH | c.45C>A (p.Arg15=) | |
11 | g.2171742dup | CA2841197868 | TH | c.45dup (p.Arg16GlnfsTer5) | |
11 | g.2171743_2171775del | CA912971952 | TH | c.13_45del (p.Asp5_Arg15del) | |
11 | g.2171743C>A | CA5818881 | TH | c.44G>T (p.Arg15Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171743C= | CA1948012069 | TH | c.44G= (p.Arg15=) | |
11 | g.2171743C>G | CA379112847 | TH | c.44G>C (p.Arg15Pro) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2171743C>T | CA5818880 | TH | c.44G>A (p.Arg15His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.2171743_2171775delinsCGGAAGCCCTTGGCCTGTGGCGTGGTGGCGTCG | CA1948012065 | TH | c.12_44delinsCGACGCCACCACGCCACAGGCCAAGGGCTTCCG (p.Pro4=) | |
11 | g.2171744G>A | CA5818882 | TH | c.43C>T (p.Arg15Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171744G>C | CA379112848 | TH | c.43C>G (p.Arg15Gly) | |
11 | g.2171744G= | CA1948012076 | TH | c.43C= (p.Arg15=) | |
11 | g.2171744G>T | CA379112849 | TH | c.43C>A (p.Arg15Ser) | dbSNP gnomAD v4 COSMIC |
11 | g.2171746_2171777del | CA658821343 | TH | c.12_43del (p.Asp5GlnfsTer5) | ClinVar dbSNP |
11 | g.2171745G>A | CA472019144 | TH | c.42C>T (p.Phe14=) | |
11 | g.2171745G>C | CA379112850 | TH | c.42C>G (p.Phe14Leu) | ClinVar |
11 | g.2171745G>T | CA379112851 | TH | c.42C>A (p.Phe14Leu) | gnomAD v4 |
11 | g.2171746A>C | CA379112852 | TH | c.41T>G (p.Phe14Cys) | |
11 | g.2171746A>G | CA379112854 | TH | c.41T>C (p.Phe14Ser) | |
11 | g.2171746A>T | CA379112853 | TH | c.41T>A (p.Phe14Tyr) | |
11 | g.2171747A>C | CA379112855 | TH | c.40T>G (p.Phe14Val) | |
11 | g.2171747A>G | CA379112856 | TH | c.40T>C (p.Phe14Leu) | |
11 | g.2171747A>T | CA379112857 | TH | c.40T>A (p.Phe14Ile) | |
11 | g.2171748G>A | CA472019145 | TH | c.39C>T (p.Gly13=) | ClinVar |
11 | g.2171748G>C | CA472019147 | TH | c.39C>G (p.Gly13=) | |
11 | g.2171748G>T | CA472019146 | TH | c.39C>A (p.Gly13=) | |
11 | g.2171748_2171749insAA | CA472019148 | TH | c.38_39insTT (p.Phe14SerfsTer?) c.38_39insTT (p.Phe14SerfsTer19) | |
11 | g.2171749C>A | CA379112858 | TH | c.38G>T (p.Gly13Val) | |
11 | g.2171749C= | CA1948012080 | TH | c.38G= (p.Gly13=) | |
11 | g.2171749C>G | CA379112859 | TH | c.38G>C (p.Gly13Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2171749C>T | CA379112860 | TH | c.38G>A (p.Gly13Asp) | |
11 | g.2171749_2171752delinsCCCT | CA1948012082 | TH | c.35_38delinsAGGG (p.Lys12=) | |
11 | g.2171750C>A | CA379112861 | TH | c.37G>T (p.Gly13Cys) | |
11 | g.2171750C= | CA1948012088 | TH | c.37G= (p.Gly13=) | |
11 | g.2171750C>G | CA379112862 | TH | c.37G>C (p.Gly13Arg) | |
11 | g.2171750C>T | CA379112863 | TH | c.37G>A (p.Gly13Ser) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2171750_2171752del | CA472019149 | TH | c.35_37del (p.Lys12_Gly13delinsSer) | dbSNP |
11 | g.2171751C>A | CA379112864 | TH | c.36G>T (p.Lys12Asn) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2171751C= | CA1948012091 | TH | c.36G= (p.Lys12=) | |
11 | g.2171751C>G | CA379112865 | TH | c.36G>C (p.Lys12Asn) | |
11 | g.2171751C>T | CA472019150 | TH | c.36G>A (p.Lys12=) | COSMIC |
11 | g.2171752T>A | CA379112868 | TH | c.35A>T (p.Lys12Met) | gnomAD v4 |
11 | g.2171752T>C | CA379112866 | TH | c.35A>G (p.Lys12Arg) | gnomAD v4 |
11 | g.2171752T>G | CA379112867 | TH | c.35A>C (p.Lys12Thr) | dbSNP |
11 | g.2171752T= | CA1948012093 | TH | c.35A= (p.Lys12=) | |
11 | g.2171753T>A | CA379112869 | TH | c.34A>T (p.Lys12Ter) | |
11 | g.2171753T>C | CA379112870 | TH | c.34A>G (p.Lys12Glu) | |
11 | g.2171753T>G | CA379112871 | TH | c.34A>C (p.Lys12Gln) | |
11 | g.2171754G>A | CA472019151 | TH | c.33C>T (p.Ala11=) | gnomAD v4 |
11 | g.2171754G>C | CA472019153 | TH | c.33C>G (p.Ala11=) | |
11 | g.2171754G>T | CA472019152 | TH | c.33C>A (p.Ala11=) | |
11 | g.2171755G>A | CA379112872 | TH | c.32C>T (p.Ala11Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2171755G>C | CA216230038 | TH | c.32C>G (p.Ala11Gly) | ClinVar dbSNP |
11 | g.2171755G= | CA1948012099 | TH | c.32C= (p.Ala11=) | |
11 | g.2171755G>T | CA379112873 | TH | c.32C>A (p.Ala11Asp) | ClinVar dbSNP gnomAD v4 |
11 | g.2171756C>A | CA379112874 | TH | c.31G>T (p.Ala11Ser) | |
11 | g.2171756C= | CA1948012108 | TH | c.31G= (p.Ala11=) | |
11 | g.2171756C>G | CA379112875 | TH | c.31G>C (p.Ala11Pro) | |
11 | g.2171756C>T | CA5818883 | TH | c.31G>A (p.Ala11Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171756_2171760delinsCCTGT | CA1948012106 | TH | c.27_31delinsACAGG (p.Pro9=) | |
11 | g.2171757C>A | CA379112876 | TH | c.30G>T (p.Gln10His) | |
11 | g.2171757C= | CA1948012109 | TH | c.30G= (p.Gln10=) | |
11 | g.2171757C>G | CA379112877 | TH | c.30G>C (p.Gln10His) | |
11 | g.2171757C>T | CA216230040 | TH | c.30G>A (p.Gln10=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2171757_2171760del | CA472019154 | TH | c.27_30del (p.Gln10ProfsTer?) c.27_30del (p.Gln10ProfsTer21) | dbSNP |
11 | g.2171758T>A | CA379112879 | TH | c.29A>T (p.Gln10Leu) | |
11 | g.2171758T>C | CA379112880 | TH | c.29A>G (p.Gln10Arg) | COSMIC |
11 | g.2171758T>G | CA379112878 | TH | c.29A>C (p.Gln10Pro) | |
11 | g.2171759G>A | CA379112881 | TH | c.28C>T (p.Gln10Ter) | gnomAD v4 |
11 | g.2171759G>C | CA379112882 | TH | c.28C>G (p.Gln10Glu) | |
11 | g.2171759G>T | CA379112883 | TH | c.28C>A (p.Gln10Lys) | gnomAD v4 |
11 | g.2171760T>A | CA472019155 | TH | c.27A>T (p.Pro9=) | |
11 | g.2171760T>C | CA472019156 | TH | c.27A>G (p.Pro9=) | |
11 | g.2171760T>G | CA472019157 | TH | c.27A>C (p.Pro9=) | |
11 | g.2171761G>A | CA216230043 | TH | c.26C>T (p.Pro9Leu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2171761G>C | CA379112884 | TH | c.26C>G (p.Pro9Arg) | |
11 | g.2171761G= | CA1948012112 | TH | c.26C= (p.Pro9=) | |
11 | g.2171761G>T | CA379112885 | TH | c.26C>A (p.Pro9Gln) | |
11 | g.2171762G>A | CA5818884 | TH | c.25C>T (p.Pro9Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171762G>C | CA379112886 | TH | c.25C>G (p.Pro9Ala) | |
11 | g.2171762G= | CA1948012114 | TH | c.25C= (p.Pro9=) | |
11 | g.2171762G>T | CA379112887 | TH | c.25C>A (p.Pro9Thr) | |
11 | g.2171763C>A | CA472019158 | TH | c.24G>T (p.Thr8=) | gnomAD v4 |
11 | g.2171763C= | CA1948012116 | TH | c.24G= (p.Thr8=) | |
11 | g.2171763C>G | CA5818886 | TH | c.24G>C (p.Thr8=) | dbSNP ExAC gnomAD v2 |
11 | g.2171763C>T | CA5818885 | TH | c.24G>A (p.Thr8=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171763_2171765delinsCGT | CA1948012117 | TH | c.22_24delinsACG (p.Thr8=) | |
11 | g.2171764G>A | CA5818887 | TH | c.23C>T (p.Thr8Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171764G>C | CA379112888 | TH | c.23C>G (p.Thr8Arg) | gnomAD v4 |
11 | g.2171764G= | CA1948012121 | TH | c.23C= (p.Thr8=) | |
11 | g.2171764G>T | CA5818888 | TH | c.23C>A (p.Thr8Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2171765_2171766del | CA918804924 | TH | c.22_23del (p.Thr8AlafsTer12) | dbSNP |
11 | g.2171765T>A | CA379112889 | TH | c.22A>T (p.Thr8Ser) | |
11 | g.2171765T>C | CA379112891 | TH | c.22A>G (p.Thr8Ala) | |
11 | g.2171765T>G | CA379112890 | TH | c.22A>C (p.Thr8Pro) | |
11 | g.2171766G>A | CA472019161 | TH | c.21C>T (p.Thr7=) | |
11 | g.2171766G>C | CA472019159 | TH | c.21C>G (p.Thr7=) | |
11 | g.2171766G>T | CA472019160 | TH | c.21C>A (p.Thr7=) | ClinVar dbSNP gnomAD v4 |
11 | g.2171768_2171777del | CA2790190903 | TH | c.12_21del (p.Asp5ArgfsTer?) c.12_21del (p.Asp5ArgfsTer24) | |
11 | g.2171767G>A | CA379112892 | TH | c.20C>T (p.Thr7Ile) | gnomAD v4 |
11 | g.2171767G>C | CA379112893 | TH | c.20C>G (p.Thr7Ser) | |
11 | g.2171767G>T | CA379112894 | TH | c.20C>A (p.Thr7Asn) | gnomAD v4 |
11 | g.2171768T>A | CA379112895 | TH | c.19A>T (p.Thr7Ser) | |
11 | g.2171768T>C | CA379112896 | TH | c.19A>G (p.Thr7Ala) | gnomAD v4 |
11 | g.2171768T>G | CA5818889 | TH | c.19A>C (p.Thr7Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171768T= | CA1948012124 | TH | c.19A= (p.Thr7=) | |
11 | g.2171769G>A | CA472019162 | TH | c.18C>T (p.Ala6=) | |
11 | g.2171769G>C | CA472019163 | TH | c.18C>G (p.Ala6=) | gnomAD v4 |
11 | g.2171769G>T | CA472019164 | TH | c.18C>A (p.Ala6=) | ClinVar gnomAD v4 |
11 | g.2171770G>A | CA379112897 | TH | c.17C>T (p.Ala6Val) | dbSNP |
11 | g.2171770G>C | CA379112898 | TH | c.17C>G (p.Ala6Gly) | |
11 | g.2171770G= | CA1948012127 | TH | c.17C= (p.Ala6=) | |
11 | g.2171770G>T | CA379112899 | TH | c.17C>A (p.Ala6Asp) | gnomAD v4 |
11 | g.2171771C>A | CA5818891 | TH | c.16G>T (p.Ala6Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2171771C= | CA1948012129 | TH | c.16G= (p.Ala6=) | |
11 | g.2171771C>G | CA379112900 | TH | c.16G>C (p.Ala6Pro) | |
11 | g.2171771C>T | CA5818890 | TH | c.16G>A (p.Ala6Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171772G>A | CA5818892 | TH | c.15C>T (p.Asp5=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.2171772G>C | CA379112902 | TH | c.15C>G (p.Asp5Glu) | |
11 | g.2171772G= | CA1948012133 | TH | c.15C= (p.Asp5=) | |
11 | g.2171772G>T | CA379112901 | TH | c.15C>A (p.Asp5Glu) | gnomAD v4 |
11 | g.2171772dup | CA918804925 | TH | c.15dup (p.Ala6ArgfsTer15) | dbSNP |
11 | g.2171773T>A | CA379112903 | TH | c.14A>T (p.Asp5Val) | |
11 | g.2171773T>C | CA379112905 | TH | c.14A>G (p.Asp5Gly) | |
11 | g.2171773T>G | CA379112904 | TH | c.14A>C (p.Asp5Ala) | |
11 | g.2171774C>A | CA379112906 | TH | c.13G>T (p.Asp5Tyr) | |
11 | g.2171774C= | CA1948012134 | TH | c.13G= (p.Asp5=) | |
11 | g.2171774C>G | CA379112907 | TH | c.13G>C (p.Asp5His) | |
11 | g.2171774C>T | CA5818893 | TH | c.13G>A (p.Asp5Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171775G>A | CA5818894 | TH | c.12C>T (p.Pro4=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2171775G>C | CA472019167 | TH | c.12C>G (p.Pro4=) | |
11 | g.2171775G= | CA1948012135 | TH | c.12C= (p.Pro4=) | |
11 | g.2171775G>T | CA472019165 | TH | c.12C>A (p.Pro4=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.2171779dup | CA16041468 | TH | c.12dup (p.Asp5ArgfsTer16) | ClinVar dbSNP gnomAD v4 |
11 | g.2171778_2171779dup | CA2790190904 | TH | c.11_12dup (p.Asp5ProfsTer?) c.11_12dup (p.Asp5ProfsTer28) | |
11 | g.2171779del | CA472019166 | TH | c.12del (p.Asp5ThrfsTer?) c.12del (p.Asp5ThrfsTer27) | gnomAD v4 COSMIC |
11 | g.2171775_2171776insAA | CA918804926 | TH | c.11_12insTT (p.Asp5SerfsTer?) c.11_12insTT (p.Asp5SerfsTer28) | dbSNP |
11 | g.2171776G>A | CA379112908 | TH | c.11C>T (p.Pro4Leu) | ClinVar gnomAD v4 COSMIC |
11 | g.2171776G>C | CA379112909 | TH | c.11C>G (p.Pro4Arg) | |
11 | g.2171776G>T | CA379112910 | TH | c.11C>A (p.Pro4His) | gnomAD v4 |
11 | g.2171777G>A | CA379112911 | TH | c.10C>T (p.Pro4Ser) | |
11 | g.2171777G>C | CA379112912 | TH | c.10C>G (p.Pro4Ala) | |
11 | g.2171777G= | CA1948012136 | TH | c.10C= (p.Pro4=) | |
11 | g.2171777G>T | CA379112913 | TH | c.10C>A (p.Pro4Thr) | gnomAD v4 |
11 | g.2171777_2171778insT | CA918804927 | TH | c.9_10insA (p.Pro4ThrfsTer17) | dbSNP |
11 | g.2171778G>A | CA472019169 | TH | c.9C>T (p.Thr3=) | |
11 | g.2171778G>C | CA472019170 | TH | c.9C>G (p.Thr3=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2171778G= | CA1948012137 | TH | c.9C= (p.Thr3=) | |
11 | g.2171778G>T | CA472019171 | TH | c.9C>A (p.Thr3=) | |
11 | g.2171779G>A | CA379112914 | TH | c.8C>T (p.Thr3Ile) | dbSNP gnomAD v2 |
11 | g.2171779G>C | CA379112915 | TH | c.8C>G (p.Thr3Ser) | |
11 | g.2171779G= | CA1948012138 | TH | c.8C= (p.Thr3=) | |
11 | g.2171779G>T | CA379112916 | TH | c.8C>A (p.Thr3Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |