Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2422870G>T | CA2612001796 | TRPM5 | c.117+50C>A (n.117+50C>A) c.93+50C>A (n.93+50C>A) c.378+50C>A (n.378+50C>A) c.171+50C>A (n.171+50C>A) | gnomAD v4 |
11 | g.2422872del | CA2612001795 | TRPM5 | c.117+50del (n.117+50del) c.93+50del (n.93+50del) c.378+50del (n.378+50del) c.171+50del (n.171+50del) | gnomAD v4 |
11 | g.2422871G>C | CA2612001797 | TRPM5 | c.117+49C>G (n.117+49C>G) c.93+49C>G (n.93+49C>G) c.378+49C>G (n.378+49C>G) c.171+49C>G (n.171+49C>G) | gnomAD v4 |
11 | g.2422871G= | CA1948149215 | TRPM5 | c.117+49C= (n.117+49C=) c.93+49C= (n.93+49C=) c.378+49C= (n.378+49C=) c.171+49C= (n.171+49C=) | |
11 | g.2422871G>T | CA597107358 | TRPM5 | c.117+49C>A (n.117+49C>A) c.93+49C>A (n.93+49C>A) c.378+49C>A (n.378+49C>A) c.171+49C>A (n.171+49C>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2422872G>T | CA2612001798 | TRPM5 | c.117+48C>A (n.117+48C>A) c.93+48C>A (n.93+48C>A) c.378+48C>A (n.378+48C>A) c.171+48C>A (n.171+48C>A) | gnomAD v4 |
11 | g.2422873T>C | CA2574727913 | TRPM5 | c.117+47A>G (n.117+47A>G) c.93+47A>G (n.93+47A>G) c.378+47A>G (n.378+47A>G) c.171+47A>G (n.171+47A>G) | |
11 | g.2422873T>G | CA2612001799 | TRPM5 | c.117+47A>C (n.117+47A>C) c.93+47A>C (n.93+47A>C) c.378+47A>C (n.378+47A>C) c.171+47A>C (n.171+47A>C) | gnomAD v4 |
11 | g.2422874T>G | CA597107359 | TRPM5 | c.117+46A>C (n.117+46A>C) c.93+46A>C (n.93+46A>C) c.378+46A>C (n.378+46A>C) c.171+46A>C (n.171+46A>C) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2422874T= | CA1948149216 | TRPM5 | c.117+46A= (n.117+46A=) c.93+46A= (n.93+46A=) c.378+46A= (n.378+46A=) c.171+46A= (n.171+46A=) | |
11 | g.2422875C= | CA1948149217 | TRPM5 | c.117+45G= (n.117+45G=) c.93+45G= (n.93+45G=) c.378+45G= (n.378+45G=) c.171+45G= (n.171+45G=) | |
11 | g.2422875C>T | CA216339973 | TRPM5 | c.117+45G>A (n.117+45G>A) c.93+45G>A (n.93+45G>A) c.378+45G>A (n.378+45G>A) c.171+45G>A (n.171+45G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2422878G>T | CA2612001800 | TRPM5 | c.117+42C>A (n.117+42C>A) c.93+42C>A (n.93+42C>A) c.378+42C>A (n.378+42C>A) c.171+42C>A (n.171+42C>A) | gnomAD v4 |
11 | g.2422879G>A | CA597107360 | TRPM5 | c.117+41C>T (n.117+41C>T) c.93+41C>T (n.93+41C>T) c.378+41C>T (n.378+41C>T) c.171+41C>T (n.171+41C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2422879G= | CA1948149218 | TRPM5 | c.117+41C= (n.117+41C=) c.93+41C= (n.93+41C=) c.378+41C= (n.378+41C=) c.171+41C= (n.171+41C=) | |
11 | g.2422879G>T | CA2612001801 | TRPM5 | c.117+41C>A (n.117+41C>A) c.93+41C>A (n.93+41C>A) c.378+41C>A (n.378+41C>A) c.171+41C>A (n.171+41C>A) | gnomAD v4 |
11 | g.2422881C>A | CA2612001802 | TRPM5 | c.117+39G>T (n.117+39G>T) c.93+39G>T (n.93+39G>T) c.378+39G>T (n.378+39G>T) c.171+39G>T (n.171+39G>T) | gnomAD v4 |
11 | g.2422884G>A | CA2612001803 | TRPM5 | c.117+36C>T (n.117+36C>T) c.93+36C>T (n.93+36C>T) c.378+36C>T (n.378+36C>T) c.171+36C>T (n.171+36C>T) | gnomAD v4 |
11 | g.2422884G>T | CA2612001804 | TRPM5 | c.117+36C>A (n.117+36C>A) c.93+36C>A (n.93+36C>A) c.378+36C>A (n.378+36C>A) c.171+36C>A (n.171+36C>A) | gnomAD v4 |
11 | g.2422885G>A | CA2612001805 | TRPM5 | c.117+35C>T (n.117+35C>T) c.93+35C>T (n.93+35C>T) c.378+35C>T (n.378+35C>T) c.171+35C>T (n.171+35C>T) | gnomAD v4 |
11 | g.2422886del | CA2574727914 | TRPM5 | c.117+34del (n.117+34del) c.93+34del (n.93+34del) c.378+34del (n.378+34del) c.171+34del (n.171+34del) | |
11 | g.2422886C= | CA1948149219 | TRPM5 | c.117+34G= (n.117+34G=) c.93+34G= (n.93+34G=) c.378+34G= (n.378+34G=) c.171+34G= (n.171+34G=) | |
11 | g.2422886C>G | CA5822015 | TRPM5 | c.117+34G>C (n.117+34G>C) c.93+34G>C (n.93+34G>C) c.378+34G>C (n.378+34G>C) c.171+34G>C (n.171+34G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2422886C>T | CA472037914 | TRPM5 | c.117+34G>A (n.117+34G>A) c.93+34G>A (n.93+34G>A) c.378+34G>A (n.378+34G>A) c.171+34G>A (n.171+34G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2422887G>A | CA5822016 | TRPM5 | c.117+33C>T (n.117+33C>T) c.93+33C>T (n.93+33C>T) c.378+33C>T (n.378+33C>T) c.171+33C>T (n.171+33C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2422887G= | CA1948149220 | TRPM5 | c.117+33C= (n.117+33C=) c.93+33C= (n.93+33C=) c.378+33C= (n.378+33C=) c.171+33C= (n.171+33C=) | |
11 | g.2422887G>T | CA597107361 | TRPM5 | c.117+33C>A (n.117+33C>A) c.93+33C>A (n.93+33C>A) c.378+33C>A (n.378+33C>A) c.171+33C>A (n.171+33C>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2422888G>A | CA2612001806 | TRPM5 | c.117+32C>T (n.117+32C>T) c.93+32C>T (n.93+32C>T) c.378+32C>T (n.378+32C>T) c.171+32C>T (n.171+32C>T) | gnomAD v4 |
11 | g.2422888G>T | CA2612001807 | TRPM5 | c.117+32C>A (n.117+32C>A) c.93+32C>A (n.93+32C>A) c.378+32C>A (n.378+32C>A) c.171+32C>A (n.171+32C>A) | gnomAD v4 |
11 | g.2422889A= | CA1948149221 | TRPM5 | c.117+31T= (n.117+31T=) c.93+31T= (n.93+31T=) c.378+31T= (n.378+31T=) c.171+31T= (n.171+31T=) | |
11 | g.2422889A>T | CA5822017 | TRPM5 | c.117+31T>A (n.117+31T>A) c.93+31T>A (n.93+31T>A) c.378+31T>A (n.378+31T>A) c.171+31T>A (n.171+31T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2422890C= | CA1948149222 | TRPM5 | c.117+30G= (n.117+30G=) c.93+30G= (n.93+30G=) c.378+30G= (n.378+30G=) c.171+30G= (n.171+30G=) | |
11 | g.2422890C>T | CA5822018 | TRPM5 | c.117+30G>A (n.117+30G>A) c.93+30G>A (n.93+30G>A) c.378+30G>A (n.378+30G>A) c.171+30G>A (n.171+30G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2422891A= | CA1948149223 | TRPM5 | c.117+29T= (n.117+29T=) c.93+29T= (n.93+29T=) c.378+29T= (n.378+29T=) c.171+29T= (n.171+29T=) | |
11 | g.2422891A>T | CA5822019 | TRPM5 | c.117+29T>A (n.117+29T>A) c.93+29T>A (n.93+29T>A) c.378+29T>A (n.378+29T>A) c.171+29T>A (n.171+29T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2422892T>C | CA2612001808 | TRPM5 | c.117+28A>G (n.117+28A>G) c.93+28A>G (n.93+28A>G) c.378+28A>G (n.378+28A>G) c.171+28A>G (n.171+28A>G) | gnomAD v4 |
11 | g.2422893C>A | CA2612001809 | TRPM5 | c.117+27G>T (n.117+27G>T) c.93+27G>T (n.93+27G>T) c.378+27G>T (n.378+27G>T) c.171+27G>T (n.171+27G>T) | gnomAD v4 |
11 | g.2422895C>A | CA1948149225 | TRPM5 | c.117+25G>T (n.117+25G>T) c.93+25G>T (n.93+25G>T) c.378+25G>T (n.378+25G>T) c.171+25G>T (n.171+25G>T) | dbSNP |
11 | g.2422895C= | CA1948149224 | TRPM5 | c.117+25G= (n.117+25G=) c.93+25G= (n.93+25G=) c.378+25G= (n.378+25G=) c.171+25G= (n.171+25G=) | |
11 | g.2422896C>A | CA2612001810 | TRPM5 | c.117+24G>T (n.117+24G>T) c.93+24G>T (n.93+24G>T) c.378+24G>T (n.378+24G>T) c.171+24G>T (n.171+24G>T) | gnomAD v4 |
11 | g.2422896C= | CA1948149226 | TRPM5 | c.117+24G= (n.117+24G=) c.93+24G= (n.93+24G=) c.378+24G= (n.378+24G=) c.171+24G= (n.171+24G=) | |
11 | g.2422896C>T | CA934444260 | TRPM5 | c.117+24G>A (n.117+24G>A) c.93+24G>A (n.93+24G>A) c.378+24G>A (n.378+24G>A) c.171+24G>A (n.171+24G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2422897T>C | CA2612001811 | TRPM5 | c.117+23A>G (n.117+23A>G) c.93+23A>G (n.93+23A>G) c.378+23A>G (n.378+23A>G) c.171+23A>G (n.171+23A>G) | gnomAD v4 |
11 | g.2422899A>G | CA2612001812 | TRPM5 | c.117+21T>C (n.117+21T>C) c.93+21T>C (n.93+21T>C) c.378+21T>C (n.378+21T>C) c.171+21T>C (n.171+21T>C) | gnomAD v4 |
11 | g.2422900G>C | CA1948149228 | TRPM5 | c.117+20C>G (n.117+20C>G) c.93+20C>G (n.93+20C>G) c.378+20C>G (n.378+20C>G) c.171+20C>G (n.171+20C>G) | dbSNP |
11 | g.2422900G= | CA1948149227 | TRPM5 | c.117+20C= (n.117+20C=) c.93+20C= (n.93+20C=) c.378+20C= (n.378+20C=) c.171+20C= (n.171+20C=) | |
11 | g.2422906_2422912del | CA2612001813 | TRPM5 | c.117+14_117+20del (n.117+14_117+20del) c.93+14_93+20del (n.93+14_93+20del) c.378+14_378+20del (n.378+14_378+20del) c.171+14_171+20del (n.171+14_171+20del) | gnomAD v4 |
11 | g.2422901G>A | CA216339984 | TRPM5 | c.117+19C>T (n.117+19C>T) c.93+19C>T (n.93+19C>T) c.378+19C>T (n.378+19C>T) c.171+19C>T (n.171+19C>T) | dbSNP gnomAD v4 |
11 | g.2422901G= | CA1948149229 | TRPM5 | c.117+19C= (n.117+19C=) c.93+19C= (n.93+19C=) c.378+19C= (n.378+19C=) c.171+19C= (n.171+19C=) | |
11 | g.2422901G>T | CA2612001814 | TRPM5 | c.117+19C>A (n.117+19C>A) c.93+19C>A (n.93+19C>A) c.378+19C>A (n.378+19C>A) c.171+19C>A (n.171+19C>A) | gnomAD v4 |
11 | g.2422902C= | CA1948149230 | TRPM5 | c.117+18G= (n.117+18G=) c.93+18G= (n.93+18G=) c.378+18G= (n.378+18G=) c.171+18G= (n.171+18G=) | |
11 | g.2422902C>T | CA216339985 | TRPM5 | c.117+18G>A (n.117+18G>A) c.93+18G>A (n.93+18G>A) c.378+18G>A (n.378+18G>A) c.171+18G>A (n.171+18G>A) | dbSNP |
11 | g.2422903C= | CA1948149231 | TRPM5 | c.117+17G= (n.117+17G=) c.93+17G= (n.93+17G=) c.378+17G= (n.378+17G=) c.171+17G= (n.171+17G=) | |
11 | g.2422903C>T | CA597107362 | TRPM5 | c.117+17G>A (n.117+17G>A) c.93+17G>A (n.93+17G>A) c.378+17G>A (n.378+17G>A) c.171+17G>A (n.171+17G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2422904T>C | CA5822020 | TRPM5 | c.117+16A>G (n.117+16A>G) c.93+16A>G (n.93+16A>G) c.378+16A>G (n.378+16A>G) c.171+16A>G (n.171+16A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2422904T= | CA1948149232 | TRPM5 | c.117+16A= (n.117+16A=) c.93+16A= (n.93+16A=) c.378+16A= (n.378+16A=) c.171+16A= (n.171+16A=) | |
11 | g.2422905G>A | CA674859399 | TRPM5 | c.117+15C>T (n.117+15C>T) c.93+15C>T (n.93+15C>T) c.378+15C>T (n.378+15C>T) c.171+15C>T (n.171+15C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2422905G>C | CA2612001816 | TRPM5 | c.117+15C>G (n.117+15C>G) c.93+15C>G (n.93+15C>G) c.378+15C>G (n.378+15C>G) c.171+15C>G (n.171+15C>G) | gnomAD v4 |
11 | g.2422905G= | CA1948149233 | TRPM5 | c.117+15C= (n.117+15C=) c.93+15C= (n.93+15C=) c.378+15C= (n.378+15C=) c.171+15C= (n.171+15C=) | |
11 | g.2422905G>T | CA5822021 | TRPM5 | c.117+15C>A (n.117+15C>A) c.93+15C>A (n.93+15C>A) c.378+15C>A (n.378+15C>A) c.171+15C>A (n.171+15C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2422908del | CA2612001815 | TRPM5 | c.117+15del (n.117+15del) c.93+15del (n.93+15del) c.378+15del (n.378+15del) c.171+15del (n.171+15del) | gnomAD v4 |
11 | g.2422908G>A | CA5822022 | TRPM5 | c.117+12C>T (n.117+12C>T) c.93+12C>T (n.93+12C>T) c.378+12C>T (n.378+12C>T) c.171+12C>T (n.171+12C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2422908G= | CA1948149234 | TRPM5 | c.117+12C= (n.117+12C=) c.93+12C= (n.93+12C=) c.378+12C= (n.378+12C=) c.171+12C= (n.171+12C=) | |
11 | g.2422909C>A | CA2612001817 | TRPM5 | c.117+11G>T (n.117+11G>T) c.93+11G>T (n.93+11G>T) c.378+11G>T (n.378+11G>T) c.171+11G>T (n.171+11G>T) | gnomAD v4 |
11 | g.2422911T>C | CA5822023 | TRPM5 | c.117+9A>G (n.117+9A>G) c.93+9A>G (n.93+9A>G) c.378+9A>G (n.378+9A>G) c.171+9A>G (n.171+9A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2422911T>G | CA2612001818 | TRPM5 | c.117+9A>C (n.117+9A>C) c.93+9A>C (n.93+9A>C) c.378+9A>C (n.378+9A>C) c.171+9A>C (n.171+9A>C) | gnomAD v4 |
11 | g.2422911T= | CA1948149235 | TRPM5 | c.117+9A= (n.117+9A=) c.93+9A= (n.93+9A=) c.378+9A= (n.378+9A=) c.171+9A= (n.171+9A=) | |
11 | g.2422912G>A | CA2574727915 | TRPM5 | c.117+8C>T (n.117+8C>T) c.93+8C>T (n.93+8C>T) c.378+8C>T (n.378+8C>T) c.171+8C>T (n.171+8C>T) | gnomAD v4 |
11 | g.2422912G>C | CA2612001819 | TRPM5 | c.117+8C>G (n.117+8C>G) c.93+8C>G (n.93+8C>G) c.378+8C>G (n.378+8C>G) c.171+8C>G (n.171+8C>G) | gnomAD v4 |
11 | g.2422912G= | CA1948149236 | TRPM5 | c.117+8C= (n.117+8C=) c.93+8C= (n.93+8C=) c.378+8C= (n.378+8C=) c.171+8C= (n.171+8C=) | |
11 | g.2422912G>T | CA5822024 | TRPM5 | c.117+8C>A (n.117+8C>A) c.93+8C>A (n.93+8C>A) c.378+8C>A (n.378+8C>A) c.171+8C>A (n.171+8C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2422913C>A | CA2612001820 | TRPM5 | c.117+7G>T (n.117+7G>T) c.93+7G>T (n.93+7G>T) c.378+7G>T (n.378+7G>T) c.171+7G>T (n.171+7G>T) | gnomAD v4 |
11 | g.2422913C>T | CA2612001821 | TRPM5 | c.117+7G>A (n.117+7G>A) c.93+7G>A (n.93+7G>A) c.378+7G>A (n.378+7G>A) c.171+7G>A (n.171+7G>A) | gnomAD v4 |
11 | g.2422914C>G | CA2612001822 | TRPM5 | c.117+6G>C (n.117+6G>C) c.93+6G>C (n.93+6G>C) c.378+6G>C (n.378+6G>C) c.171+6G>C (n.171+6G>C) | gnomAD v4 |
11 | g.2422914C>T | CA2612001823 | TRPM5 | c.117+6G>A (n.117+6G>A) c.93+6G>A (n.93+6G>A) c.378+6G>A (n.378+6G>A) c.171+6G>A (n.171+6G>A) | gnomAD v4 |
11 | g.2422915_2422916insGTCCACCGCA | CA2790199924 | TRPM5 | c.117+4_117+5insTGCGGTGGAC (n.117+4_117+5insTGCGGTGGAC) c.93+4_93+5insTGCGGTGGAC (n.93+4_93+5insTGCGGTGGAC) c.378+4_378+5insTGCGGTGGAC (n.378+4_378+5insTGCGGTGGAC) c.171+4_171+5insTGCGGTGGAC (n.171+4_171+5insTGCGGTGGAC) | |
11 | g.2422916T>C | CA216340003 | TRPM5 | c.117+4A>G (n.117+4A>G) c.93+4A>G (n.93+4A>G) c.378+4A>G (n.378+4A>G) c.171+4A>G (n.171+4A>G) | dbSNP |
11 | g.2422916T= | CA1948149237 | TRPM5 | c.117+4A= (n.117+4A=) c.93+4A= (n.93+4A=) c.378+4A= (n.378+4A=) c.171+4A= (n.171+4A=) | |
11 | g.2422917_2422918insGAAGG | CA2790199925 | TRPM5 | c.117+2_117+3insCCTTC (n.117+2_117+3insCCTTC) c.93+2_93+3insCCTTC (n.93+2_93+3insCCTTC) c.378+2_378+3insCCTTC (n.378+2_378+3insCCTTC) c.171+2_171+3insCCTTC (n.171+2_171+3insCCTTC) | |
11 | g.2422918A= | CA1948149238 | TRPM5 | c.117+2T= (n.117+2T=) c.93+2T= (n.93+2T=) c.378+2T= (n.378+2T=) c.171+2T= (n.171+2T=) | |
11 | g.2422918A>C | CA379138647 | TRPM5 | c.117+2T>G (n.117+2T>G) c.93+2T>G (n.93+2T>G) c.378+2T>G (n.378+2T>G) c.171+2T>G (n.171+2T>G) | dbSNP |
11 | g.2422918A>G | CA379138645 | TRPM5 | c.117+2T>C (n.117+2T>C) c.93+2T>C (n.93+2T>C) c.378+2T>C (n.378+2T>C) c.171+2T>C (n.171+2T>C) | |
11 | g.2422918A>T | CA379138646 | TRPM5 | c.117+2T>A (n.117+2T>A) c.93+2T>A (n.93+2T>A) c.378+2T>A (n.378+2T>A) c.171+2T>A (n.171+2T>A) | |
11 | g.2422919C>A | CA379138648 | TRPM5 | c.117+1G>T (n.117+1G>T) c.93+1G>T (n.93+1G>T) c.378+1G>T (n.378+1G>T) c.171+1G>T (n.171+1G>T) | |
11 | g.2422919C>G | CA379138650 | TRPM5 | c.117+1G>C (n.117+1G>C) c.93+1G>C (n.93+1G>C) c.378+1G>C (n.378+1G>C) c.171+1G>C (n.171+1G>C) | |
11 | g.2422919C>T | CA379138649 | TRPM5 | c.117+1G>A (n.117+1G>A) c.93+1G>A (n.93+1G>A) c.378+1G>A (n.378+1G>A) c.171+1G>A (n.171+1G>A) | |
11 | g.2422920C>A | CA379138651 | TRPM5 | c.117G>T (p.Lys39Asn) c.93G>T (p.Lys31Asn) c.378G>T (p.Lys126Asn) c.171G>T (p.Lys57Asn) | |
11 | g.2422920C>G | CA379138652 | TRPM5 | c.117G>C (p.Lys39Asn) c.93G>C (p.Lys31Asn) c.378G>C (p.Lys126Asn) c.171G>C (p.Lys57Asn) | |
11 | g.2422920C>T | CA472037915 | TRPM5 | c.117G>A (p.Lys39=) c.93G>A (p.Lys31=) c.378G>A (p.Lys126=) c.171G>A (p.Lys57=) | COSMIC |
11 | g.2422921T>A | CA379138653 | TRPM5 | c.116A>T (p.Lys39Met) c.92A>T (p.Lys31Met) c.377A>T (p.Lys126Met) c.170A>T (p.Lys57Met) | |
11 | g.2422921T>C | CA379138654 | TRPM5 | c.116A>G (p.Lys39Arg) c.92A>G (p.Lys31Arg) c.377A>G (p.Lys126Arg) c.170A>G (p.Lys57Arg) | |
11 | g.2422921T>G | CA379138655 | TRPM5 | c.116A>C (p.Lys39Thr) c.92A>C (p.Lys31Thr) c.377A>C (p.Lys126Thr) c.170A>C (p.Lys57Thr) | |
11 | g.2422922T>A | CA379138656 | TRPM5 | c.115A>T (p.Lys39Ter) c.91A>T (p.Lys31Ter) c.376A>T (p.Lys126Ter) c.169A>T (p.Lys57Ter) | |
11 | g.2422922T>C | CA379138657 | TRPM5 | c.115A>G (p.Lys39Glu) c.91A>G (p.Lys31Glu) c.376A>G (p.Lys126Glu) c.169A>G (p.Lys57Glu) | |
11 | g.2422922T>G | CA379138659 | TRPM5 | c.115A>C (p.Lys39Gln) c.91A>C (p.Lys31Gln) c.376A>C (p.Lys126Gln) c.169A>C (p.Lys57Gln) | |
11 | g.2422923G>A | CA472037916 | TRPM5 | c.114C>T (p.Gly38=) c.90C>T (p.Gly30=) c.375C>T (p.Gly125=) c.168C>T (p.Gly56=) | |
11 | g.2422923G>C | CA216340009 | TRPM5 | c.114C>G (p.Gly38=) c.90C>G (p.Gly30=) c.375C>G (p.Gly125=) c.168C>G (p.Gly56=) | dbSNP |
11 | g.2422923G= | CA1948149239 | TRPM5 | c.114C= (p.Gly38=) c.90C= (p.Gly30=) c.375C= (p.Gly125=) c.168C= (p.Gly56=) | |
11 | g.2422923G>T | CA472037917 | TRPM5 | c.114C>A (p.Gly38=) c.90C>A (p.Gly30=) c.375C>A (p.Gly125=) c.168C>A (p.Gly56=) | |
11 | g.2422924C>A | CA379138660 | TRPM5 | c.113G>T (p.Gly38Val) c.89G>T (p.Gly30Val) c.374G>T (p.Gly125Val) c.167G>T (p.Gly56Val) | |
11 | g.2422924C>G | CA379138661 | TRPM5 | c.113G>C (p.Gly38Ala) c.89G>C (p.Gly30Ala) c.374G>C (p.Gly125Ala) c.167G>C (p.Gly56Ala) | |
11 | g.2422924C>T | CA379138662 | TRPM5 | c.113G>A (p.Gly38Asp) c.89G>A (p.Gly30Asp) c.374G>A (p.Gly125Asp) c.167G>A (p.Gly56Asp) | COSMIC |
11 | g.2422925C>A | CA379138665 | TRPM5 | c.112G>T (p.Gly38Cys) c.88G>T (p.Gly30Cys) c.373G>T (p.Gly125Cys) c.166G>T (p.Gly56Cys) | |
11 | g.2422925C= | CA1948149240 | TRPM5 | c.112G= (p.Gly38=) c.88G= (p.Gly30=) c.373G= (p.Gly125=) c.166G= (p.Gly56=) | |
11 | g.2422925C>G | CA379138664 | TRPM5 | c.112G>C (p.Gly38Arg) c.88G>C (p.Gly30Arg) c.373G>C (p.Gly125Arg) c.166G>C (p.Gly56Arg) | |
11 | g.2422925C>T | CA379138663 | TRPM5 | c.112G>A (p.Gly38Ser) c.88G>A (p.Gly30Ser) c.373G>A (p.Gly125Ser) c.166G>A (p.Gly56Ser) | dbSNP gnomAD v4 |
11 | g.2422926T>A | CA472037918 | TRPM5 | c.111A>T (p.Arg37=) c.87A>T (p.Arg29=) c.372A>T (p.Arg124=) c.165A>T (p.Arg55=) | |
11 | g.2422926T>C | CA472037919 | TRPM5 | c.111A>G (p.Arg37=) c.87A>G (p.Arg29=) c.372A>G (p.Arg124=) c.165A>G (p.Arg55=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2422926T>G | CA472037920 | TRPM5 | c.111A>C (p.Arg37=) c.87A>C (p.Arg29=) c.372A>C (p.Arg124=) c.165A>C (p.Arg55=) | |
11 | g.2422926T= | CA1948149241 | TRPM5 | c.111A= (p.Arg37=) c.87A= (p.Arg29=) c.372A= (p.Arg124=) c.165A= (p.Arg55=) | |
11 | g.2422927C>A | CA379138666 | TRPM5 | c.110G>T (p.Arg37Leu) c.86G>T (p.Arg29Leu) c.371G>T (p.Arg124Leu) c.164G>T (p.Arg55Leu) | gnomAD v4 |
11 | g.2422927C= | CA1948149242 | TRPM5 | c.110G= (p.Arg37=) c.86G= (p.Arg29=) c.371G= (p.Arg124=) c.164G= (p.Arg55=) | |
11 | g.2422927C>G | CA379138667 | TRPM5 | c.110G>C (p.Arg37Pro) c.86G>C (p.Arg29Pro) c.371G>C (p.Arg124Pro) c.164G>C (p.Arg55Pro) | COSMIC |
11 | g.2422927C>T | CA5822025 | TRPM5 | c.110G>A (p.Arg37Gln) c.86G>A (p.Arg29Gln) c.371G>A (p.Arg124Gln) c.164G>A (p.Arg55Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.2422928G>A | CA5822026 | TRPM5 | c.109C>T (p.Arg37Ter) c.85C>T (p.Arg29Ter) c.370C>T (p.Arg124Ter) c.163C>T (p.Arg55Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2422928G>C | CA379138668 | TRPM5 | c.109C>G (p.Arg37Gly) c.85C>G (p.Arg29Gly) c.370C>G (p.Arg124Gly) c.163C>G (p.Arg55Gly) | |
11 | g.2422928G= | CA1948149243 | TRPM5 | c.109C= (p.Arg37=) c.85C= (p.Arg29=) c.370C= (p.Arg124=) c.163C= (p.Arg55=) | |
11 | g.2422928G>T | CA472037921 | TRPM5 | c.109C>A (p.Arg37=) c.85C>A (p.Arg29=) c.370C>A (p.Arg124=) c.163C>A (p.Arg55=) | |
11 | g.2422929C>A | CA379138669 | TRPM5 | c.108G>T (p.Lys36Asn) c.84G>T (p.Lys28Asn) c.369G>T (p.Lys123Asn) c.162G>T (p.Lys54Asn) | |
11 | g.2422929C>G | CA379138670 | TRPM5 | c.108G>C (p.Lys36Asn) c.84G>C (p.Lys28Asn) c.369G>C (p.Lys123Asn) c.162G>C (p.Lys54Asn) | |
11 | g.2422929C>T | CA472037922 | TRPM5 | c.108G>A (p.Lys36=) c.84G>A (p.Lys28=) c.369G>A (p.Lys123=) c.162G>A (p.Lys54=) | |
11 | g.2422930T>A | CA379138671 | TRPM5 | c.107A>T (p.Lys36Met) c.83A>T (p.Lys28Met) c.368A>T (p.Lys123Met) c.161A>T (p.Lys54Met) | |
11 | g.2422930T>C | CA379138672 | TRPM5 | c.107A>G (p.Lys36Arg) c.83A>G (p.Lys28Arg) c.368A>G (p.Lys123Arg) c.161A>G (p.Lys54Arg) | |
11 | g.2422930T>G | CA379138673 | TRPM5 | c.107A>C (p.Lys36Thr) c.83A>C (p.Lys28Thr) c.368A>C (p.Lys123Thr) c.161A>C (p.Lys54Thr) | |
11 | g.2422931T>A | CA379138674 | TRPM5 | c.106A>T (p.Lys36Ter) c.82A>T (p.Lys28Ter) c.367A>T (p.Lys123Ter) c.160A>T (p.Lys54Ter) | |
11 | g.2422931T>C | CA379138675 | TRPM5 | c.106A>G (p.Lys36Glu) c.82A>G (p.Lys28Glu) c.367A>G (p.Lys123Glu) c.160A>G (p.Lys54Glu) | |
11 | g.2422931T>G | CA379138676 | TRPM5 | c.106A>C (p.Lys36Gln) c.82A>C (p.Lys28Gln) c.367A>C (p.Lys123Gln) c.160A>C (p.Lys54Gln) | |
11 | g.2422932C>A | CA379138678 | TRPM5 | c.105G>T (p.Lys35Asn) c.81G>T (p.Lys27Asn) c.366G>T (p.Lys122Asn) c.159G>T (p.Lys53Asn) | |
11 | g.2422932C>G | CA379138677 | TRPM5 | c.105G>C (p.Lys35Asn) c.81G>C (p.Lys27Asn) c.366G>C (p.Lys122Asn) c.159G>C (p.Lys53Asn) | |
11 | g.2422932C>T | CA472037923 | TRPM5 | c.105G>A (p.Lys35=) c.81G>A (p.Lys27=) c.366G>A (p.Lys122=) c.159G>A (p.Lys53=) | |
11 | g.2422933T>A | CA379138679 | TRPM5 | c.104A>T (p.Lys35Met) c.80A>T (p.Lys27Met) c.365A>T (p.Lys122Met) c.158A>T (p.Lys53Met) | |
11 | g.2422933T>C | CA379138680 | TRPM5 | c.104A>G (p.Lys35Arg) c.80A>G (p.Lys27Arg) c.365A>G (p.Lys122Arg) c.158A>G (p.Lys53Arg) | dbSNP |
11 | g.2422933T>G | CA379138681 | TRPM5 | c.104A>C (p.Lys35Thr) c.80A>C (p.Lys27Thr) c.365A>C (p.Lys122Thr) c.158A>C (p.Lys53Thr) | |
11 | g.2422933T= | CA1948149244 | TRPM5 | c.104A= (p.Lys35=) c.80A= (p.Lys27=) c.365A= (p.Lys122=) c.158A= (p.Lys53=) | |
11 | g.2422934T>A | CA379138682 | TRPM5 | c.103A>T (p.Lys35Ter) c.79A>T (p.Lys27Ter) c.364A>T (p.Lys122Ter) c.157A>T (p.Lys53Ter) | |
11 | g.2422934T>C | CA379138683 | TRPM5 | c.103A>G (p.Lys35Glu) c.79A>G (p.Lys27Glu) c.364A>G (p.Lys122Glu) c.157A>G (p.Lys53Glu) | |
11 | g.2422934T>G | CA379138684 | TRPM5 | c.103A>C (p.Lys35Gln) c.79A>C (p.Lys27Gln) c.364A>C (p.Lys122Gln) c.157A>C (p.Lys53Gln) | |
11 | g.2422935C>A | CA472037926 | TRPM5 | c.102G>T (p.Gly34=) c.78G>T (p.Gly26=) c.363G>T (p.Gly121=) c.156G>T (p.Gly52=) | |
11 | g.2422935C>G | CA472037924 | TRPM5 | c.102G>C (p.Gly34=) c.78G>C (p.Gly26=) c.363G>C (p.Gly121=) c.156G>C (p.Gly52=) | |
11 | g.2422935C>T | CA472037925 | TRPM5 | c.102G>A (p.Gly34=) c.78G>A (p.Gly26=) c.363G>A (p.Gly121=) c.156G>A (p.Gly52=) | gnomAD v4 COSMIC |
11 | g.2422936C>A | CA379138685 | TRPM5 | c.101G>T (p.Gly34Val) c.77G>T (p.Gly26Val) c.362G>T (p.Gly121Val) c.155G>T (p.Gly52Val) | |
11 | g.2422936C>G | CA379138686 | TRPM5 | c.101G>C (p.Gly34Ala) c.77G>C (p.Gly26Ala) c.362G>C (p.Gly121Ala) c.155G>C (p.Gly52Ala) | |
11 | g.2422936C>T | CA379138687 | TRPM5 | c.101G>A (p.Gly34Glu) c.77G>A (p.Gly26Glu) c.362G>A (p.Gly121Glu) c.155G>A (p.Gly52Glu) | |
11 | g.2422937C>A | CA379138688 | TRPM5 | c.100G>T (p.Gly34Trp) c.76G>T (p.Gly26Trp) c.361G>T (p.Gly121Trp) c.154G>T (p.Gly52Trp) | |
11 | g.2422937C= | CA1948149245 | TRPM5 | c.100G= (p.Gly34=) c.76G= (p.Gly26=) c.361G= (p.Gly121=) c.154G= (p.Gly52=) | |
11 | g.2422937C>G | CA379138689 | TRPM5 | c.100G>C (p.Gly34Arg) c.76G>C (p.Gly26Arg) c.361G>C (p.Gly121Arg) c.154G>C (p.Gly52Arg) | |
11 | g.2422937C>T | CA5822027 | TRPM5 | c.100G>A (p.Gly34Arg) c.76G>A (p.Gly26Arg) c.361G>A (p.Gly121Arg) c.154G>A (p.Gly52Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2422938A= | CA1948149246 | TRPM5 | c.99T= (p.Ser33=) c.75T= (p.Ser25=) c.360T= (p.Ser120=) c.153T= (p.Ser51=) | |
11 | g.2422938A>C | CA472037927 | TRPM5 | c.99T>G (p.Ser33=) c.75T>G (p.Ser25=) c.360T>G (p.Ser120=) c.153T>G (p.Ser51=) | |
11 | g.2422938A>G | CA5822028 | TRPM5 | c.99T>C (p.Ser33=) c.75T>C (p.Ser25=) c.360T>C (p.Ser120=) c.153T>C (p.Ser51=) | dbSNP ExAC gnomAD v2 |
11 | g.2422938A>T | CA472037928 | TRPM5 | c.99T>A (p.Ser33=) c.75T>A (p.Ser25=) c.360T>A (p.Ser120=) c.153T>A (p.Ser51=) | |
11 | g.2422939G>A | CA379138691 | TRPM5 | c.98C>T (p.Ser33Phe) c.74C>T (p.Ser25Phe) c.359C>T (p.Ser120Phe) c.152C>T (p.Ser51Phe) | gnomAD v4 |
11 | g.2422939G>C | CA5822029 | TRPM5 | c.98C>G (p.Ser33Cys) c.74C>G (p.Ser25Cys) c.359C>G (p.Ser120Cys) c.152C>G (p.Ser51Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2422939G= | CA1948149247 | TRPM5 | c.98C= (p.Ser33=) c.74C= (p.Ser25=) c.359C= (p.Ser120=) c.152C= (p.Ser51=) | |
11 | g.2422939G>T | CA379138690 | TRPM5 | c.98C>A (p.Ser33Tyr) c.74C>A (p.Ser25Tyr) c.359C>A (p.Ser120Tyr) c.152C>A (p.Ser51Tyr) | |
11 | g.2422940A= | CA1948149248 | TRPM5 | c.97T= (p.Ser33=) c.73T= (p.Ser25=) c.358T= (p.Ser120=) c.151T= (p.Ser51=) | |
11 | g.2422940A>C | CA379138692 | TRPM5 | c.97T>G (p.Ser33Ala) c.73T>G (p.Ser25Ala) c.358T>G (p.Ser120Ala) c.151T>G (p.Ser51Ala) | dbSNP COSMIC |
11 | g.2422940A>G | CA379138693 | TRPM5 | c.97T>C (p.Ser33Pro) c.73T>C (p.Ser25Pro) c.358T>C (p.Ser120Pro) c.151T>C (p.Ser51Pro) | |
11 | g.2422940A>T | CA379138694 | TRPM5 | c.97T>A (p.Ser33Thr) c.73T>A (p.Ser25Thr) c.358T>A (p.Ser120Thr) c.151T>A (p.Ser51Thr) | |
11 | g.2422941C>A | CA472037929 | TRPM5 | c.96G>T (p.Gly32=) c.72G>T (p.Gly24=) c.357G>T (p.Gly119=) c.150G>T (p.Gly50=) | gnomAD v4 |
11 | g.2422941C= | CA1948149249 | TRPM5 | c.96G= (p.Gly32=) c.72G= (p.Gly24=) c.357G= (p.Gly119=) c.150G= (p.Gly50=) | |
11 | g.2422941C>G | CA472037930 | TRPM5 | c.96G>C (p.Gly32=) c.72G>C (p.Gly24=) c.357G>C (p.Gly119=) c.150G>C (p.Gly50=) | |
11 | g.2422941C>T | CA5822030 | TRPM5 | c.96G>A (p.Gly32=) c.72G>A (p.Gly24=) c.357G>A (p.Gly119=) c.150G>A (p.Gly50=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.2422942C>A | CA379138695 | TRPM5 | c.95G>T (p.Gly32Val) c.71G>T (p.Gly24Val) c.356G>T (p.Gly119Val) c.149G>T (p.Gly50Val) | |
11 | g.2422942C>G | CA379138696 | TRPM5 | c.95G>C (p.Gly32Ala) c.71G>C (p.Gly24Ala) c.356G>C (p.Gly119Ala) c.149G>C (p.Gly50Ala) | |
11 | g.2422942C>T | CA379138697 | TRPM5 | c.95G>A (p.Gly32Glu) c.71G>A (p.Gly24Glu) c.356G>A (p.Gly119Glu) c.149G>A (p.Gly50Glu) | |
11 | g.2422943C>A | CA379138698 | TRPM5 | c.94G>T (p.Gly32Trp) c.70G>T (p.Gly24Trp) c.355G>T (p.Gly119Trp) c.148G>T (p.Gly50Trp) | |
11 | g.2422943C= | CA1948149250 | TRPM5 | c.94G= (p.Gly32=) c.70G= (p.Gly24=) c.355G= (p.Gly119=) c.148G= (p.Gly50=) | |
11 | g.2422943C>G | CA379138699 | TRPM5 | c.94G>C (p.Gly32Arg) c.70G>C (p.Gly24Arg) c.355G>C (p.Gly119Arg) c.148G>C (p.Gly50Arg) | dbSNP gnomAD v4 |
11 | g.2422943C>T | CA216340023 | TRPM5 | c.94G>A (p.Gly32Arg) c.70G>A (p.Gly24Arg) c.355G>A (p.Gly119Arg) c.148G>A (p.Gly50Arg) | dbSNP gnomAD v4 |
11 | g.2422944T>A | CA472037931 | TRPM5 | c.93A>T (p.Gly31=) c.69A>T (p.Gly23=) c.354A>T (p.Gly118=) c.147A>T (p.Gly49=) | |
11 | g.2422944T>C | CA472037932 | TRPM5 | c.93A>G (p.Gly31=) c.69A>G (p.Gly23=) c.354A>G (p.Gly118=) c.147A>G (p.Gly49=) | |
11 | g.2422944T>G | CA472037933 | TRPM5 | c.93A>C (p.Gly31=) c.69A>C (p.Gly23=) c.354A>C (p.Gly118=) c.147A>C (p.Gly49=) | |
11 | g.2422945C>A | CA379138700 | TRPM5 | c.92G>T (p.Gly31Val) c.68G>T (p.Gly23Val) c.353G>T (p.Gly118Val) c.146G>T (p.Gly49Val) | |
11 | g.2422945C= | CA1948149251 | TRPM5 | c.92G= (p.Gly31=) c.68G= (p.Gly23=) c.353G= (p.Gly118=) c.146G= (p.Gly49=) | |
11 | g.2422945C>G | CA379138701 | TRPM5 | c.92G>C (p.Gly31Ala) c.68G>C (p.Gly23Ala) c.353G>C (p.Gly118Ala) c.146G>C (p.Gly49Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2422945C>T | CA379138702 | TRPM5 | c.92G>A (p.Gly31Glu) c.68G>A (p.Gly23Glu) c.353G>A (p.Gly118Glu) c.146G>A (p.Gly49Glu) | |
11 | g.2422946C>A | CA379138705 | TRPM5 | c.91G>T (p.Gly31Ter) c.67G>T (p.Gly23Ter) c.352G>T (p.Gly118Ter) c.145G>T (p.Gly49Ter) | |
11 | g.2422946C>G | CA379138704 | TRPM5 | c.91G>C (p.Gly31Arg) c.67G>C (p.Gly23Arg) c.352G>C (p.Gly118Arg) c.145G>C (p.Gly49Arg) | |
11 | g.2422946C>T | CA379138703 | TRPM5 | c.91G>A (p.Gly31Arg) c.67G>A (p.Gly23Arg) c.352G>A (p.Gly118Arg) c.145G>A (p.Gly49Arg) | |
11 | g.2422947A>C | CA379138706 | TRPM5 | c.90T>G (p.Phe30Leu) c.66T>G (p.Phe22Leu) c.351T>G (p.Phe117Leu) c.144T>G (p.Phe48Leu) | |
11 | g.2422947A>G | CA472037934 | TRPM5 | c.90T>C (p.Phe30=) c.66T>C (p.Phe22=) c.351T>C (p.Phe117=) c.144T>C (p.Phe48=) | |
11 | g.2422947A>T | CA379138707 | TRPM5 | c.90T>A (p.Phe30Leu) c.66T>A (p.Phe22Leu) c.351T>A (p.Phe117Leu) c.144T>A (p.Phe48Leu) | |
11 | g.2422948A= | CA1948149252 | TRPM5 | c.89T= (p.Phe30=) c.65T= (p.Phe22=) c.350T= (p.Phe117=) c.143T= (p.Phe48=) | |
11 | g.2422948A>C | CA379138708 | TRPM5 | c.89T>G (p.Phe30Cys) c.65T>G (p.Phe22Cys) c.350T>G (p.Phe117Cys) c.143T>G (p.Phe48Cys) | |
11 | g.2422948A>G | CA379138710 | TRPM5 | c.89T>C (p.Phe30Ser) c.65T>C (p.Phe22Ser) c.350T>C (p.Phe117Ser) c.143T>C (p.Phe48Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2422948A>T | CA379138709 | TRPM5 | c.89T>A (p.Phe30Tyr) c.65T>A (p.Phe22Tyr) c.350T>A (p.Phe117Tyr) c.143T>A (p.Phe48Tyr) | |
11 | g.2422949A>C | CA379138711 | TRPM5 | c.88T>G (p.Phe30Val) c.64T>G (p.Phe22Val) c.349T>G (p.Phe117Val) c.142T>G (p.Phe48Val) | |
11 | g.2422949A>G | CA379138712 | TRPM5 | c.88T>C (p.Phe30Leu) c.64T>C (p.Phe22Leu) c.349T>C (p.Phe117Leu) c.142T>C (p.Phe48Leu) | |
11 | g.2422949A>T | CA379138713 | TRPM5 | c.88T>A (p.Phe30Ile) c.64T>A (p.Phe22Ile) c.349T>A (p.Phe117Ile) c.142T>A (p.Phe48Ile) | |
11 | g.2422950G>A | CA472037935 | TRPM5 | c.87C>T (p.Asn29=) c.63C>T (p.Asn21=) c.348C>T (p.Asn116=) c.141C>T (p.Asn47=) | |
11 | g.2422950G>C | CA379138714 | TRPM5 | c.87C>G (p.Asn29Lys) c.63C>G (p.Asn21Lys) c.348C>G (p.Asn116Lys) c.141C>G (p.Asn47Lys) | |
11 | g.2422950G>T | CA379138715 | TRPM5 | c.87C>A (p.Asn29Lys) c.63C>A (p.Asn21Lys) c.348C>A (p.Asn116Lys) c.141C>A (p.Asn47Lys) | gnomAD v4 |
11 | g.2422951T>A | CA379138716 | TRPM5 | c.86A>T (p.Asn29Ile) c.62A>T (p.Asn21Ile) c.347A>T (p.Asn116Ile) c.140A>T (p.Asn47Ile) | |
11 | g.2422951T>C | CA379138717 | TRPM5 | c.86A>G (p.Asn29Ser) c.62A>G (p.Asn21Ser) c.347A>G (p.Asn116Ser) c.140A>G (p.Asn47Ser) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2422951T>G | CA379138718 | TRPM5 | c.86A>C (p.Asn29Thr) c.62A>C (p.Asn21Thr) c.347A>C (p.Asn116Thr) c.140A>C (p.Asn47Thr) | |
11 | g.2422951T= | CA1948149253 | TRPM5 | c.86A= (p.Asn29=) c.62A= (p.Asn21=) c.347A= (p.Asn116=) c.140A= (p.Asn47=) | |
11 | g.2422952T>A | CA379138719 | TRPM5 | c.85A>T (p.Asn29Tyr) c.61A>T (p.Asn21Tyr) c.346A>T (p.Asn116Tyr) c.139A>T (p.Asn47Tyr) | |
11 | g.2422952T>C | CA379138720 | TRPM5 | c.85A>G (p.Asn29Asp) c.61A>G (p.Asn21Asp) c.346A>G (p.Asn116Asp) c.139A>G (p.Asn47Asp) | |
11 | g.2422952T>G | CA379138721 | TRPM5 | c.85A>C (p.Asn29His) c.61A>C (p.Asn21His) c.346A>C (p.Asn116His) c.139A>C (p.Asn47His) | |
11 | g.2422953G>A | CA472037936 | TRPM5 | c.84C>T (p.Val28=) c.60C>T (p.Val20=) c.345C>T (p.Val115=) c.138C>T (p.Val46=) | |
11 | g.2422953G>C | CA472037937 | TRPM5 | c.84C>G (p.Val28=) c.60C>G (p.Val20=) c.345C>G (p.Val115=) c.138C>G (p.Val46=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2422953G= | CA1948149254 | TRPM5 | c.84C= (p.Val28=) c.60C= (p.Val20=) c.345C= (p.Val115=) c.138C= (p.Val46=) | |
11 | g.2422953G>T | CA472037938 | TRPM5 | c.84C>A (p.Val28=) c.60C>A (p.Val20=) c.345C>A (p.Val115=) c.138C>A (p.Val46=) | |
11 | g.2422954A= | CA1948149255 | TRPM5 | c.83T= (p.Val28=) c.59T= (p.Val20=) c.344T= (p.Val115=) c.137T= (p.Val46=) | |
11 | g.2422954A>C | CA379138724 | TRPM5 | c.83T>G (p.Val28Gly) c.59T>G (p.Val20Gly) c.344T>G (p.Val115Gly) c.137T>G (p.Val46Gly) | dbSNP |
11 | g.2422954A>G | CA379138723 | TRPM5 | c.83T>C (p.Val28Ala) c.59T>C (p.Val20Ala) c.344T>C (p.Val115Ala) c.137T>C (p.Val46Ala) | |
11 | g.2422954A>T | CA379138722 | TRPM5 | c.83T>A (p.Val28Asp) c.59T>A (p.Val20Asp) c.344T>A (p.Val115Asp) c.137T>A (p.Val46Asp) | |
11 | g.2422955C>A | CA5822031 | TRPM5 | c.82G>T (p.Val28Phe) c.58G>T (p.Val20Phe) c.343G>T (p.Val115Phe) c.136G>T (p.Val46Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2422955C= | CA1948149256 | TRPM5 | c.82G= (p.Val28=) c.58G= (p.Val20=) c.343G= (p.Val115=) c.136G= (p.Val46=) | |
11 | g.2422955C>G | CA379138725 | TRPM5 | c.82G>C (p.Val28Leu) c.58G>C (p.Val20Leu) c.343G>C (p.Val115Leu) c.136G>C (p.Val46Leu) | |
11 | g.2422955C>T | CA216340032 | TRPM5 | c.82G>A (p.Val28Ile) c.58G>A (p.Val20Ile) c.343G>A (p.Val115Ile) c.136G>A (p.Val46Ile) | dbSNP gnomAD v4 |
11 | g.2422956C>A | CA379138726 | TRPM5 | c.81G>T (p.Glu27Asp) c.57G>T (p.Glu19Asp) c.342G>T (p.Glu114Asp) c.135G>T (p.Glu45Asp) | |
11 | g.2422956C= | CA1948149257 | TRPM5 | c.81G= (p.Glu27=) c.57G= (p.Glu19=) c.342G= (p.Glu114=) c.135G= (p.Glu45=) | |
11 | g.2422956C>G | CA379138727 | TRPM5 | c.81G>C (p.Glu27Asp) c.57G>C (p.Glu19Asp) c.342G>C (p.Glu114Asp) c.135G>C (p.Glu45Asp) | |
11 | g.2422956C>T | CA5822032 | TRPM5 | c.81G>A (p.Glu27=) c.57G>A (p.Glu19=) c.342G>A (p.Glu114=) c.135G>A (p.Glu45=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2422957T>A | CA379138728 | TRPM5 | c.80A>T (p.Glu27Val) c.56A>T (p.Glu19Val) c.341A>T (p.Glu114Val) c.134A>T (p.Glu45Val) | |
11 | g.2422957T>C | CA5822033 | TRPM5 | c.80A>G (p.Glu27Gly) c.56A>G (p.Glu19Gly) c.341A>G (p.Glu114Gly) c.134A>G (p.Glu45Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2422957T>G | CA379138729 | TRPM5 | c.80A>C (p.Glu27Ala) c.56A>C (p.Glu19Ala) c.341A>C (p.Glu114Ala) c.134A>C (p.Glu45Ala) | |
11 | g.2422957T= | CA1948149258 | TRPM5 | c.80A= (p.Glu27=) c.56A= (p.Glu19=) c.341A= (p.Glu114=) c.134A= (p.Glu45=) | |
11 | g.2422958C>A | CA379138730 | TRPM5 | c.79G>T (p.Glu27Ter) c.55G>T (p.Glu19Ter) c.340G>T (p.Glu114Ter) c.133G>T (p.Glu45Ter) | gnomAD v4 |
11 | g.2422958C= | CA1948149259 | TRPM5 | c.79G= (p.Glu27=) c.55G= (p.Glu19=) c.340G= (p.Glu114=) c.133G= (p.Glu45=) | |
11 | g.2422958C>G | CA379138731 | TRPM5 | c.79G>C (p.Glu27Gln) c.55G>C (p.Glu19Gln) c.340G>C (p.Glu114Gln) c.133G>C (p.Glu45Gln) | |
11 | g.2422958C>T | CA5822034 | TRPM5 | c.79G>A (p.Glu27Lys) c.55G>A (p.Glu19Lys) c.340G>A (p.Glu114Lys) c.133G>A (p.Glu45Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2422959G>A | CA5822036 | TRPM5 | c.78C>T (p.Gly26=) c.54C>T (p.Gly18=) c.339C>T (p.Gly113=) c.132C>T (p.Gly44=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2422959G>C | CA5822035 | TRPM5 | c.78C>G (p.Gly26=) c.54C>G (p.Gly18=) c.339C>G (p.Gly113=) c.132C>G (p.Gly44=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2422959G= | CA1948149260 | TRPM5 | c.78C= (p.Gly26=) c.54C= (p.Gly18=) c.339C= (p.Gly113=) c.132C= (p.Gly44=) | |
11 | g.2422959G>T | CA472037939 | TRPM5 | c.78C>A (p.Gly26=) c.54C>A (p.Gly18=) c.339C>A (p.Gly113=) c.132C>A (p.Gly44=) | gnomAD v4 |
11 | g.2422960C>A | CA379138732 | TRPM5 | c.77G>T (p.Gly26Val) c.53G>T (p.Gly18Val) c.338G>T (p.Gly113Val) c.131G>T (p.Gly44Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2422960C= | CA1948149261 | TRPM5 | c.77G= (p.Gly26=) c.53G= (p.Gly18=) c.338G= (p.Gly113=) c.131G= (p.Gly44=) | |
11 | g.2422960C>G | CA379138733 | TRPM5 | c.77G>C (p.Gly26Ala) c.53G>C (p.Gly18Ala) c.338G>C (p.Gly113Ala) c.131G>C (p.Gly44Ala) | |
11 | g.2422960C>T | CA379138734 | TRPM5 | c.77G>A (p.Gly26Asp) c.53G>A (p.Gly18Asp) c.338G>A (p.Gly113Asp) c.131G>A (p.Gly44Asp) | |
11 | g.2422963dup | CA2612001824 | TRPM5 | c.77dup (p.Glu27ArgfsTer28) c.53dup (p.Glu19ArgfsTer28) c.338dup (p.Glu114ArgfsTer28) c.131dup (p.Glu45ArgfsTer28) | gnomAD v4 |
11 | g.2422961C>A | CA379138735 | TRPM5 | c.76G>T (p.Gly26Cys) c.52G>T (p.Gly18Cys) c.337G>T (p.Gly113Cys) c.130G>T (p.Gly44Cys) | |
11 | g.2422961C>G | CA379138736 | TRPM5 | c.76G>C (p.Gly26Arg) c.52G>C (p.Gly18Arg) c.337G>C (p.Gly113Arg) c.130G>C (p.Gly44Arg) | |
11 | g.2422961C>T | CA379138737 | TRPM5 | c.76G>A (p.Gly26Ser) c.52G>A (p.Gly18Ser) c.337G>A (p.Gly113Ser) c.130G>A (p.Gly44Ser) | |
11 | g.2422962C>A | CA379138738 | TRPM5 | c.75G>T (p.Arg25Ser) c.51G>T (p.Arg17Ser) c.336G>T (p.Arg112Ser) c.129G>T (p.Arg43Ser) | |
11 | g.2422962C>G | CA379138739 | TRPM5 | c.75G>C (p.Arg25Ser) c.51G>C (p.Arg17Ser) c.336G>C (p.Arg112Ser) c.129G>C (p.Arg43Ser) | |
11 | g.2422962C>T | CA472037940 | TRPM5 | c.75G>A (p.Arg25=) c.51G>A (p.Arg17=) c.336G>A (p.Arg112=) c.129G>A (p.Arg43=) | gnomAD v4 COSMIC |
11 | g.2422963C>A | CA379138740 | TRPM5 | c.74G>T (p.Arg25Met) c.50G>T (p.Arg17Met) c.335G>T (p.Arg112Met) c.128G>T (p.Arg43Met) | |
11 | g.2422963C>G | CA379138741 | TRPM5 | c.74G>C (p.Arg25Thr) c.50G>C (p.Arg17Thr) c.335G>C (p.Arg112Thr) c.128G>C (p.Arg43Thr) | gnomAD v3 gnomAD v4 |
11 | g.2422963C>T | CA379138742 | TRPM5 | c.74G>A (p.Arg25Lys) c.50G>A (p.Arg17Lys) c.335G>A (p.Arg112Lys) c.128G>A (p.Arg43Lys) | |
11 | g.2422964T>A | CA379138743 | TRPM5 | c.73A>T (p.Arg25Trp) c.49A>T (p.Arg17Trp) c.334A>T (p.Arg112Trp) c.127A>T (p.Arg43Trp) | |
11 | g.2422964T>C | CA379138744 | TRPM5 | c.73A>G (p.Arg25Gly) c.49A>G (p.Arg17Gly) c.334A>G (p.Arg112Gly) c.127A>G (p.Arg43Gly) | |
11 | g.2422964T>G | CA5822037 | TRPM5 | c.73A>C (p.Arg25=) c.49A>C (p.Arg17=) c.334A>C (p.Arg112=) c.127A>C (p.Arg43=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2422964T= | CA1948149262 | TRPM5 | c.73A= (p.Arg25=) c.49A= (p.Arg17=) c.334A= (p.Arg112=) c.127A= (p.Arg43=) | |
11 | g.2422965G>A | CA472037941 | TRPM5 | c.72C>T (p.His24=) c.48C>T (p.His16=) c.333C>T (p.His111=) c.126C>T (p.His42=) | gnomAD v4 |
11 | g.2422965G>C | CA379138745 | TRPM5 | c.72C>G (p.His24Gln) c.48C>G (p.His16Gln) c.333C>G (p.His111Gln) c.126C>G (p.His42Gln) | |
11 | g.2422965G>T | CA379138746 | TRPM5 | c.72C>A (p.His24Gln) c.48C>A (p.His16Gln) c.333C>A (p.His111Gln) c.126C>A (p.His42Gln) | |
11 | g.2422966T>A | CA379138747 | TRPM5 | c.71A>T (p.His24Leu) c.47A>T (p.His16Leu) c.332A>T (p.His111Leu) c.125A>T (p.His42Leu) | gnomAD v4 |
11 | g.2422966T>C | CA379138748 | TRPM5 | c.71A>G (p.His24Arg) c.47A>G (p.His16Arg) c.332A>G (p.His111Arg) c.125A>G (p.His42Arg) | |
11 | g.2422966T>G | CA379138749 | TRPM5 | c.71A>C (p.His24Pro) c.47A>C (p.His16Pro) c.332A>C (p.His111Pro) c.125A>C (p.His42Pro) | |
11 | g.2422967G>A | CA379138750 | TRPM5 | c.70C>T (p.His24Tyr) c.46C>T (p.His16Tyr) c.331C>T (p.His111Tyr) c.124C>T (p.His42Tyr) | |
11 | g.2422967G>C | CA379138751 | TRPM5 | c.70C>G (p.His24Asp) c.46C>G (p.His16Asp) c.331C>G (p.His111Asp) c.124C>G (p.His42Asp) | |
11 | g.2422967G>T | CA379138752 | TRPM5 | c.70C>A (p.His24Asn) c.46C>A (p.His16Asn) c.331C>A (p.His111Asn) c.124C>A (p.His42Asn) | |
11 | g.2422968C>A | CA379138753 | TRPM5 | c.69G>T (p.Leu23Phe) c.45G>T (p.Leu15Phe) c.330G>T (p.Leu110Phe) c.123G>T (p.Leu41Phe) | |
11 | g.2422968C= | CA1948149263 | TRPM5 | c.69G= (p.Leu23=) c.45G= (p.Leu15=) c.330G= (p.Leu110=) c.123G= (p.Leu41=) | |
11 | g.2422968C>G | CA379138754 | TRPM5 | c.69G>C (p.Leu23Phe) c.45G>C (p.Leu15Phe) c.330G>C (p.Leu110Phe) c.123G>C (p.Leu41Phe) | |
11 | g.2422968C>T | CA5822038 | TRPM5 | c.69G>A (p.Leu23=) c.45G>A (p.Leu15=) c.330G>A (p.Leu110=) c.123G>A (p.Leu41=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2422969A>C | CA379138755 | TRPM5 | c.68T>G (p.Leu23Trp) c.44T>G (p.Leu15Trp) c.329T>G (p.Leu110Trp) c.122T>G (p.Leu41Trp) | |
11 | g.2422969A>G | CA379138756 | TRPM5 | c.68T>C (p.Leu23Ser) c.44T>C (p.Leu15Ser) c.329T>C (p.Leu110Ser) c.122T>C (p.Leu41Ser) | |
11 | g.2422969A>T | CA379138757 | TRPM5 | c.68T>A (p.Leu23Ter) c.44T>A (p.Leu15Ter) c.329T>A (p.Leu110Ter) c.122T>A (p.Leu41Ter) | |
11 | g.2422970A>C | CA379138759 | TRPM5 | c.67T>G (p.Leu23Val) c.43T>G (p.Leu15Val) c.328T>G (p.Leu110Val) c.121T>G (p.Leu41Val) | |
11 | g.2422970A>G | CA472037942 | TRPM5 | c.67T>C (p.Leu23=) c.43T>C (p.Leu15=) c.328T>C (p.Leu110=) c.121T>C (p.Leu41=) | |
11 | g.2422970A>T | CA379138758 | TRPM5 | c.67T>A (p.Leu23Met) c.43T>A (p.Leu15Met) c.328T>A (p.Leu110Met) c.121T>A (p.Leu41Met) |