Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.2422886delCA2574727914TRPM5c.117+34del (n.117+34del)
c.93+34del (n.93+34del)
c.378+34del (n.378+34del)
c.171+34del (n.171+34del)
11g.2422886C=CA1948149219TRPM5c.117+34G= (n.117+34G=)
c.93+34G= (n.93+34G=)
c.378+34G= (n.378+34G=)
c.171+34G= (n.171+34G=)
11g.2422886C>GCA5822015TRPM5c.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
11g.2422886C>TCA472037914TRPM5c.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
11g.2422887G>ACA5822016TRPM5c.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
11g.2422887G=CA1948149220TRPM5c.117+33C= (n.117+33C=)
c.93+33C= (n.93+33C=)
c.378+33C= (n.378+33C=)
c.171+33C= (n.171+33C=)
11g.2422887G>TCA597107361TRPM5c.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
11g.2422888G>ACA2612001806TRPM5c.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
11g.2422888G>TCA2612001807TRPM5c.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
11g.2422889A=CA1948149221TRPM5c.117+31T= (n.117+31T=)
c.93+31T= (n.93+31T=)
c.378+31T= (n.378+31T=)
c.171+31T= (n.171+31T=)
11g.2422889A>TCA5822017TRPM5c.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
11g.2422890C=CA1948149222TRPM5c.117+30G= (n.117+30G=)
c.93+30G= (n.93+30G=)
c.378+30G= (n.378+30G=)
c.171+30G= (n.171+30G=)
11g.2422890C>TCA5822018TRPM5c.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
11g.2422891A=CA1948149223TRPM5c.117+29T= (n.117+29T=)
c.93+29T= (n.93+29T=)
c.378+29T= (n.378+29T=)
c.171+29T= (n.171+29T=)
11g.2422891A>TCA5822019TRPM5c.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
11g.2422892T>CCA2612001808TRPM5c.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
11g.2422893C>ACA2612001809TRPM5c.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
11g.2422895C>ACA1948149225TRPM5c.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
11g.2422895C=CA1948149224TRPM5c.117+25G= (n.117+25G=)
c.93+25G= (n.93+25G=)
c.378+25G= (n.378+25G=)
c.171+25G= (n.171+25G=)
11g.2422896C>ACA2612001810TRPM5c.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
11g.2422896C=CA1948149226TRPM5c.117+24G= (n.117+24G=)
c.93+24G= (n.93+24G=)
c.378+24G= (n.378+24G=)
c.171+24G= (n.171+24G=)
11g.2422896C>TCA934444260TRPM5c.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
11g.2422897T>CCA2612001811TRPM5c.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
11g.2422899A>GCA2612001812TRPM5c.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
11g.2422900G>CCA1948149228TRPM5c.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
11g.2422900G=CA1948149227TRPM5c.117+20C= (n.117+20C=)
c.93+20C= (n.93+20C=)
c.378+20C= (n.378+20C=)
c.171+20C= (n.171+20C=)
11g.2422906_2422912delCA2612001813TRPM5c.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
11g.2422901G>ACA216339984TRPM5c.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
11g.2422901G=CA1948149229TRPM5c.117+19C= (n.117+19C=)
c.93+19C= (n.93+19C=)
c.378+19C= (n.378+19C=)
c.171+19C= (n.171+19C=)
11g.2422901G>TCA2612001814TRPM5c.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
11g.2422902C=CA1948149230TRPM5c.117+18G= (n.117+18G=)
c.93+18G= (n.93+18G=)
c.378+18G= (n.378+18G=)
c.171+18G= (n.171+18G=)
11g.2422902C>TCA216339985TRPM5c.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
11g.2422903C=CA1948149231TRPM5c.117+17G= (n.117+17G=)
c.93+17G= (n.93+17G=)
c.378+17G= (n.378+17G=)
c.171+17G= (n.171+17G=)
11g.2422903C>TCA597107362TRPM5c.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
11g.2422904T>CCA5822020TRPM5c.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
11g.2422904T=CA1948149232TRPM5c.117+16A= (n.117+16A=)
c.93+16A= (n.93+16A=)
c.378+16A= (n.378+16A=)
c.171+16A= (n.171+16A=)
11g.2422905G>ACA674859399TRPM5c.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
11g.2422905G>CCA2612001816TRPM5c.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
11g.2422905G=CA1948149233TRPM5c.117+15C= (n.117+15C=)
c.93+15C= (n.93+15C=)
c.378+15C= (n.378+15C=)
c.171+15C= (n.171+15C=)
11g.2422905G>TCA5822021TRPM5c.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
11g.2422908delCA2612001815TRPM5c.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
11g.2422908G>ACA5822022TRPM5c.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
11g.2422908G=CA1948149234TRPM5c.117+12C= (n.117+12C=)
c.93+12C= (n.93+12C=)
c.378+12C= (n.378+12C=)
c.171+12C= (n.171+12C=)
11g.2422909C>ACA2612001817TRPM5c.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
11g.2422911T>CCA5822023TRPM5c.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
11g.2422911T>GCA2612001818TRPM5c.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
11g.2422911T=CA1948149235TRPM5c.117+9A= (n.117+9A=)
c.93+9A= (n.93+9A=)
c.378+9A= (n.378+9A=)
c.171+9A= (n.171+9A=)
11g.2422912G>ACA2574727915TRPM5c.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
11g.2422912G>CCA2612001819TRPM5c.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
11g.2422912G=CA1948149236TRPM5c.117+8C= (n.117+8C=)
c.93+8C= (n.93+8C=)
c.378+8C= (n.378+8C=)
c.171+8C= (n.171+8C=)
11g.2422912G>TCA5822024TRPM5c.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
11g.2422913C>ACA2612001820TRPM5c.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
11g.2422913C>TCA2612001821TRPM5c.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
11g.2422914C>GCA2612001822TRPM5c.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
11g.2422914C>TCA2612001823TRPM5c.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
11g.2422915_2422916insGTCCACCGCACA2790199924TRPM5c.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)
11g.2422916T>CCA216340003TRPM5c.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
11g.2422916T=CA1948149237TRPM5c.117+4A= (n.117+4A=)
c.93+4A= (n.93+4A=)
c.378+4A= (n.378+4A=)
c.171+4A= (n.171+4A=)
11g.2422917_2422918insGAAGGCA2790199925TRPM5c.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)
11g.2422918A=CA1948149238TRPM5c.117+2T= (n.117+2T=)
c.93+2T= (n.93+2T=)
c.378+2T= (n.378+2T=)
c.171+2T= (n.171+2T=)
11g.2422918A>CCA379138647TRPM5c.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
11g.2422918A>GCA379138645TRPM5c.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)
11g.2422918A>TCA379138646TRPM5c.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)
11g.2422919C>ACA379138648TRPM5c.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)
11g.2422919C>GCA379138650TRPM5c.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)
11g.2422919C>TCA379138649TRPM5c.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)
11g.2422920C>ACA379138651TRPM5c.117G>T (p.Lys39Asn)
c.93G>T (p.Lys31Asn)
c.378G>T (p.Lys126Asn)
c.171G>T (p.Lys57Asn)
11g.2422920C>GCA379138652TRPM5c.117G>C (p.Lys39Asn)
c.93G>C (p.Lys31Asn)
c.378G>C (p.Lys126Asn)
c.171G>C (p.Lys57Asn)
11g.2422920C>TCA472037915TRPM5c.117G>A (p.Lys39=)
c.93G>A (p.Lys31=)
c.378G>A (p.Lys126=)
c.171G>A (p.Lys57=)
 COSMIC
11g.2422921T>ACA379138653TRPM5c.116A>T (p.Lys39Met)
c.92A>T (p.Lys31Met)
c.377A>T (p.Lys126Met)
c.170A>T (p.Lys57Met)
11g.2422921T>CCA379138654TRPM5c.116A>G (p.Lys39Arg)
c.92A>G (p.Lys31Arg)
c.377A>G (p.Lys126Arg)
c.170A>G (p.Lys57Arg)
11g.2422921T>GCA379138655TRPM5c.116A>C (p.Lys39Thr)
c.92A>C (p.Lys31Thr)
c.377A>C (p.Lys126Thr)
c.170A>C (p.Lys57Thr)
11g.2422922T>ACA379138656TRPM5c.115A>T (p.Lys39Ter)
c.91A>T (p.Lys31Ter)
c.376A>T (p.Lys126Ter)
c.169A>T (p.Lys57Ter)
11g.2422922T>CCA379138657TRPM5c.115A>G (p.Lys39Glu)
c.91A>G (p.Lys31Glu)
c.376A>G (p.Lys126Glu)
c.169A>G (p.Lys57Glu)
11g.2422922T>GCA379138659TRPM5c.115A>C (p.Lys39Gln)
c.91A>C (p.Lys31Gln)
c.376A>C (p.Lys126Gln)
c.169A>C (p.Lys57Gln)
11g.2422923G>ACA472037916TRPM5c.114C>T (p.Gly38=)
c.90C>T (p.Gly30=)
c.375C>T (p.Gly125=)
c.168C>T (p.Gly56=)
11g.2422923G>CCA216340009TRPM5c.114C>G (p.Gly38=)
c.90C>G (p.Gly30=)
c.375C>G (p.Gly125=)
c.168C>G (p.Gly56=)
 dbSNP
11g.2422923G=CA1948149239TRPM5c.114C= (p.Gly38=)
c.90C= (p.Gly30=)
c.375C= (p.Gly125=)
c.168C= (p.Gly56=)
11g.2422923G>TCA472037917TRPM5c.114C>A (p.Gly38=)
c.90C>A (p.Gly30=)
c.375C>A (p.Gly125=)
c.168C>A (p.Gly56=)
11g.2422924C>ACA379138660TRPM5c.113G>T (p.Gly38Val)
c.89G>T (p.Gly30Val)
c.374G>T (p.Gly125Val)
c.167G>T (p.Gly56Val)
11g.2422924C>GCA379138661TRPM5c.113G>C (p.Gly38Ala)
c.89G>C (p.Gly30Ala)
c.374G>C (p.Gly125Ala)
c.167G>C (p.Gly56Ala)
11g.2422924C>TCA379138662TRPM5c.113G>A (p.Gly38Asp)
c.89G>A (p.Gly30Asp)
c.374G>A (p.Gly125Asp)
c.167G>A (p.Gly56Asp)
 COSMIC
11g.2422925C>ACA379138665TRPM5c.112G>T (p.Gly38Cys)
c.88G>T (p.Gly30Cys)
c.373G>T (p.Gly125Cys)
c.166G>T (p.Gly56Cys)
11g.2422925C=CA1948149240TRPM5c.112G= (p.Gly38=)
c.88G= (p.Gly30=)
c.373G= (p.Gly125=)
c.166G= (p.Gly56=)
11g.2422925C>GCA379138664TRPM5c.112G>C (p.Gly38Arg)
c.88G>C (p.Gly30Arg)
c.373G>C (p.Gly125Arg)
c.166G>C (p.Gly56Arg)
11g.2422925C>TCA379138663TRPM5c.112G>A (p.Gly38Ser)
c.88G>A (p.Gly30Ser)
c.373G>A (p.Gly125Ser)
c.166G>A (p.Gly56Ser)
 dbSNP gnomAD v4
11g.2422926T>ACA472037918TRPM5c.111A>T (p.Arg37=)
c.87A>T (p.Arg29=)
c.372A>T (p.Arg124=)
c.165A>T (p.Arg55=)
11g.2422926T>CCA472037919TRPM5c.111A>G (p.Arg37=)
c.87A>G (p.Arg29=)
c.372A>G (p.Arg124=)
c.165A>G (p.Arg55=)
 dbSNP gnomAD v2 gnomAD v4
11g.2422926T>GCA472037920TRPM5c.111A>C (p.Arg37=)
c.87A>C (p.Arg29=)
c.372A>C (p.Arg124=)
c.165A>C (p.Arg55=)
11g.2422926T=CA1948149241TRPM5c.111A= (p.Arg37=)
c.87A= (p.Arg29=)
c.372A= (p.Arg124=)
c.165A= (p.Arg55=)
11g.2422927C>ACA379138666TRPM5c.110G>T (p.Arg37Leu)
c.86G>T (p.Arg29Leu)
c.371G>T (p.Arg124Leu)
c.164G>T (p.Arg55Leu)
 gnomAD v4
11g.2422927C=CA1948149242TRPM5c.110G= (p.Arg37=)
c.86G= (p.Arg29=)
c.371G= (p.Arg124=)
c.164G= (p.Arg55=)
11g.2422927C>GCA379138667TRPM5c.110G>C (p.Arg37Pro)
c.86G>C (p.Arg29Pro)
c.371G>C (p.Arg124Pro)
c.164G>C (p.Arg55Pro)
 COSMIC
11g.2422927C>TCA5822025TRPM5c.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
11g.2422928G>ACA5822026TRPM5c.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
11g.2422928G>CCA379138668TRPM5c.109C>G (p.Arg37Gly)
c.85C>G (p.Arg29Gly)
c.370C>G (p.Arg124Gly)
c.163C>G (p.Arg55Gly)
11g.2422928G=CA1948149243TRPM5c.109C= (p.Arg37=)
c.85C= (p.Arg29=)
c.370C= (p.Arg124=)
c.163C= (p.Arg55=)
11g.2422928G>TCA472037921TRPM5c.109C>A (p.Arg37=)
c.85C>A (p.Arg29=)
c.370C>A (p.Arg124=)
c.163C>A (p.Arg55=)
11g.2422929C>ACA379138669TRPM5c.108G>T (p.Lys36Asn)
c.84G>T (p.Lys28Asn)
c.369G>T (p.Lys123Asn)
c.162G>T (p.Lys54Asn)
11g.2422929C>GCA379138670TRPM5c.108G>C (p.Lys36Asn)
c.84G>C (p.Lys28Asn)
c.369G>C (p.Lys123Asn)
c.162G>C (p.Lys54Asn)
11g.2422929C>TCA472037922TRPM5c.108G>A (p.Lys36=)
c.84G>A (p.Lys28=)
c.369G>A (p.Lys123=)
c.162G>A (p.Lys54=)
11g.2422930T>ACA379138671TRPM5c.107A>T (p.Lys36Met)
c.83A>T (p.Lys28Met)
c.368A>T (p.Lys123Met)
c.161A>T (p.Lys54Met)
11g.2422930T>CCA379138672TRPM5c.107A>G (p.Lys36Arg)
c.83A>G (p.Lys28Arg)
c.368A>G (p.Lys123Arg)
c.161A>G (p.Lys54Arg)
11g.2422930T>GCA379138673TRPM5c.107A>C (p.Lys36Thr)
c.83A>C (p.Lys28Thr)
c.368A>C (p.Lys123Thr)
c.161A>C (p.Lys54Thr)
11g.2422931T>ACA379138674TRPM5c.106A>T (p.Lys36Ter)
c.82A>T (p.Lys28Ter)
c.367A>T (p.Lys123Ter)
c.160A>T (p.Lys54Ter)
11g.2422931T>CCA379138675TRPM5c.106A>G (p.Lys36Glu)
c.82A>G (p.Lys28Glu)
c.367A>G (p.Lys123Glu)
c.160A>G (p.Lys54Glu)
11g.2422931T>GCA379138676TRPM5c.106A>C (p.Lys36Gln)
c.82A>C (p.Lys28Gln)
c.367A>C (p.Lys123Gln)
c.160A>C (p.Lys54Gln)
11g.2422932C>ACA379138678TRPM5c.105G>T (p.Lys35Asn)
c.81G>T (p.Lys27Asn)
c.366G>T (p.Lys122Asn)
c.159G>T (p.Lys53Asn)
11g.2422932C>GCA379138677TRPM5c.105G>C (p.Lys35Asn)
c.81G>C (p.Lys27Asn)
c.366G>C (p.Lys122Asn)
c.159G>C (p.Lys53Asn)
11g.2422932C>TCA472037923TRPM5c.105G>A (p.Lys35=)
c.81G>A (p.Lys27=)
c.366G>A (p.Lys122=)
c.159G>A (p.Lys53=)
11g.2422933T>ACA379138679TRPM5c.104A>T (p.Lys35Met)
c.80A>T (p.Lys27Met)
c.365A>T (p.Lys122Met)
c.158A>T (p.Lys53Met)
11g.2422933T>CCA379138680TRPM5c.104A>G (p.Lys35Arg)
c.80A>G (p.Lys27Arg)
c.365A>G (p.Lys122Arg)
c.158A>G (p.Lys53Arg)
 dbSNP
11g.2422933T>GCA379138681TRPM5c.104A>C (p.Lys35Thr)
c.80A>C (p.Lys27Thr)
c.365A>C (p.Lys122Thr)
c.158A>C (p.Lys53Thr)
11g.2422933T=CA1948149244TRPM5c.104A= (p.Lys35=)
c.80A= (p.Lys27=)
c.365A= (p.Lys122=)
c.158A= (p.Lys53=)
11g.2422934T>ACA379138682TRPM5c.103A>T (p.Lys35Ter)
c.79A>T (p.Lys27Ter)
c.364A>T (p.Lys122Ter)
c.157A>T (p.Lys53Ter)
11g.2422934T>CCA379138683TRPM5c.103A>G (p.Lys35Glu)
c.79A>G (p.Lys27Glu)
c.364A>G (p.Lys122Glu)
c.157A>G (p.Lys53Glu)
11g.2422934T>GCA379138684TRPM5c.103A>C (p.Lys35Gln)
c.79A>C (p.Lys27Gln)
c.364A>C (p.Lys122Gln)
c.157A>C (p.Lys53Gln)
11g.2422935C>ACA472037926TRPM5c.102G>T (p.Gly34=)
c.78G>T (p.Gly26=)
c.363G>T (p.Gly121=)
c.156G>T (p.Gly52=)
11g.2422935C>GCA472037924TRPM5c.102G>C (p.Gly34=)
c.78G>C (p.Gly26=)
c.363G>C (p.Gly121=)
c.156G>C (p.Gly52=)
11g.2422935C>TCA472037925TRPM5c.102G>A (p.Gly34=)
c.78G>A (p.Gly26=)
c.363G>A (p.Gly121=)
c.156G>A (p.Gly52=)
 gnomAD v4 COSMIC
11g.2422936C>ACA379138685TRPM5c.101G>T (p.Gly34Val)
c.77G>T (p.Gly26Val)
c.362G>T (p.Gly121Val)
c.155G>T (p.Gly52Val)
11g.2422936C>GCA379138686TRPM5c.101G>C (p.Gly34Ala)
c.77G>C (p.Gly26Ala)
c.362G>C (p.Gly121Ala)
c.155G>C (p.Gly52Ala)
11g.2422936C>TCA379138687TRPM5c.101G>A (p.Gly34Glu)
c.77G>A (p.Gly26Glu)
c.362G>A (p.Gly121Glu)
c.155G>A (p.Gly52Glu)
11g.2422937C>ACA379138688TRPM5c.100G>T (p.Gly34Trp)
c.76G>T (p.Gly26Trp)
c.361G>T (p.Gly121Trp)
c.154G>T (p.Gly52Trp)
11g.2422937C=CA1948149245TRPM5c.100G= (p.Gly34=)
c.76G= (p.Gly26=)
c.361G= (p.Gly121=)
c.154G= (p.Gly52=)
11g.2422937C>GCA379138689TRPM5c.100G>C (p.Gly34Arg)
c.76G>C (p.Gly26Arg)
c.361G>C (p.Gly121Arg)
c.154G>C (p.Gly52Arg)
11g.2422937C>TCA5822027TRPM5c.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
11g.2422938A=CA1948149246TRPM5c.99T= (p.Ser33=)
c.75T= (p.Ser25=)
c.360T= (p.Ser120=)
c.153T= (p.Ser51=)
11g.2422938A>CCA472037927TRPM5c.99T>G (p.Ser33=)
c.75T>G (p.Ser25=)
c.360T>G (p.Ser120=)
c.153T>G (p.Ser51=)
11g.2422938A>GCA5822028TRPM5c.99T>C (p.Ser33=)
c.75T>C (p.Ser25=)
c.360T>C (p.Ser120=)
c.153T>C (p.Ser51=)
 dbSNP ExAC gnomAD v2
11g.2422938A>TCA472037928TRPM5c.99T>A (p.Ser33=)
c.75T>A (p.Ser25=)
c.360T>A (p.Ser120=)
c.153T>A (p.Ser51=)
11g.2422939G>ACA379138691TRPM5c.98C>T (p.Ser33Phe)
c.74C>T (p.Ser25Phe)
c.359C>T (p.Ser120Phe)
c.152C>T (p.Ser51Phe)
 gnomAD v4
11g.2422939G>CCA5822029TRPM5c.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
11g.2422939G=CA1948149247TRPM5c.98C= (p.Ser33=)
c.74C= (p.Ser25=)
c.359C= (p.Ser120=)
c.152C= (p.Ser51=)
11g.2422939G>TCA379138690TRPM5c.98C>A (p.Ser33Tyr)
c.74C>A (p.Ser25Tyr)
c.359C>A (p.Ser120Tyr)
c.152C>A (p.Ser51Tyr)
11g.2422940A=CA1948149248TRPM5c.97T= (p.Ser33=)
c.73T= (p.Ser25=)
c.358T= (p.Ser120=)
c.151T= (p.Ser51=)
11g.2422940A>CCA379138692TRPM5c.97T>G (p.Ser33Ala)
c.73T>G (p.Ser25Ala)
c.358T>G (p.Ser120Ala)
c.151T>G (p.Ser51Ala)
 dbSNP COSMIC
11g.2422940A>GCA379138693TRPM5c.97T>C (p.Ser33Pro)
c.73T>C (p.Ser25Pro)
c.358T>C (p.Ser120Pro)
c.151T>C (p.Ser51Pro)
11g.2422940A>TCA379138694TRPM5c.97T>A (p.Ser33Thr)
c.73T>A (p.Ser25Thr)
c.358T>A (p.Ser120Thr)
c.151T>A (p.Ser51Thr)
11g.2422941C>ACA472037929TRPM5c.96G>T (p.Gly32=)
c.72G>T (p.Gly24=)
c.357G>T (p.Gly119=)
c.150G>T (p.Gly50=)
 gnomAD v4
11g.2422941C=CA1948149249TRPM5c.96G= (p.Gly32=)
c.72G= (p.Gly24=)
c.357G= (p.Gly119=)
c.150G= (p.Gly50=)
11g.2422941C>GCA472037930TRPM5c.96G>C (p.Gly32=)
c.72G>C (p.Gly24=)
c.357G>C (p.Gly119=)
c.150G>C (p.Gly50=)
11g.2422941C>TCA5822030TRPM5c.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
11g.2422942C>ACA379138695TRPM5c.95G>T (p.Gly32Val)
c.71G>T (p.Gly24Val)
c.356G>T (p.Gly119Val)
c.149G>T (p.Gly50Val)
11g.2422942C>GCA379138696TRPM5c.95G>C (p.Gly32Ala)
c.71G>C (p.Gly24Ala)
c.356G>C (p.Gly119Ala)
c.149G>C (p.Gly50Ala)
11g.2422942C>TCA379138697TRPM5c.95G>A (p.Gly32Glu)
c.71G>A (p.Gly24Glu)
c.356G>A (p.Gly119Glu)
c.149G>A (p.Gly50Glu)
11g.2422943C>ACA379138698TRPM5c.94G>T (p.Gly32Trp)
c.70G>T (p.Gly24Trp)
c.355G>T (p.Gly119Trp)
c.148G>T (p.Gly50Trp)
11g.2422943C=CA1948149250TRPM5c.94G= (p.Gly32=)
c.70G= (p.Gly24=)
c.355G= (p.Gly119=)
c.148G= (p.Gly50=)
11g.2422943C>GCA379138699TRPM5c.94G>C (p.Gly32Arg)
c.70G>C (p.Gly24Arg)
c.355G>C (p.Gly119Arg)
c.148G>C (p.Gly50Arg)
 dbSNP gnomAD v4
11g.2422943C>TCA216340023TRPM5c.94G>A (p.Gly32Arg)
c.70G>A (p.Gly24Arg)
c.355G>A (p.Gly119Arg)
c.148G>A (p.Gly50Arg)
 dbSNP gnomAD v4
11g.2422944T>ACA472037931TRPM5c.93A>T (p.Gly31=)
c.69A>T (p.Gly23=)
c.354A>T (p.Gly118=)
c.147A>T (p.Gly49=)
11g.2422944T>CCA472037932TRPM5c.93A>G (p.Gly31=)
c.69A>G (p.Gly23=)
c.354A>G (p.Gly118=)
c.147A>G (p.Gly49=)
11g.2422944T>GCA472037933TRPM5c.93A>C (p.Gly31=)
c.69A>C (p.Gly23=)
c.354A>C (p.Gly118=)
c.147A>C (p.Gly49=)
11g.2422945C>ACA379138700TRPM5c.92G>T (p.Gly31Val)
c.68G>T (p.Gly23Val)
c.353G>T (p.Gly118Val)
c.146G>T (p.Gly49Val)
11g.2422945C=CA1948149251TRPM5c.92G= (p.Gly31=)
c.68G= (p.Gly23=)
c.353G= (p.Gly118=)
c.146G= (p.Gly49=)
11g.2422945C>GCA379138701TRPM5c.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
11g.2422945C>TCA379138702TRPM5c.92G>A (p.Gly31Glu)
c.68G>A (p.Gly23Glu)
c.353G>A (p.Gly118Glu)
c.146G>A (p.Gly49Glu)
11g.2422946C>ACA379138705TRPM5c.91G>T (p.Gly31Ter)
c.67G>T (p.Gly23Ter)
c.352G>T (p.Gly118Ter)
c.145G>T (p.Gly49Ter)
11g.2422946C>GCA379138704TRPM5c.91G>C (p.Gly31Arg)
c.67G>C (p.Gly23Arg)
c.352G>C (p.Gly118Arg)
c.145G>C (p.Gly49Arg)
11g.2422946C>TCA379138703TRPM5c.91G>A (p.Gly31Arg)
c.67G>A (p.Gly23Arg)
c.352G>A (p.Gly118Arg)
c.145G>A (p.Gly49Arg)
11g.2422947A>CCA379138706TRPM5c.90T>G (p.Phe30Leu)
c.66T>G (p.Phe22Leu)
c.351T>G (p.Phe117Leu)
c.144T>G (p.Phe48Leu)
11g.2422947A>GCA472037934TRPM5c.90T>C (p.Phe30=)
c.66T>C (p.Phe22=)
c.351T>C (p.Phe117=)
c.144T>C (p.Phe48=)
11g.2422947A>TCA379138707TRPM5c.90T>A (p.Phe30Leu)
c.66T>A (p.Phe22Leu)
c.351T>A (p.Phe117Leu)
c.144T>A (p.Phe48Leu)
11g.2422948A=CA1948149252TRPM5c.89T= (p.Phe30=)
c.65T= (p.Phe22=)
c.350T= (p.Phe117=)
c.143T= (p.Phe48=)
11g.2422948A>CCA379138708TRPM5c.89T>G (p.Phe30Cys)
c.65T>G (p.Phe22Cys)
c.350T>G (p.Phe117Cys)
c.143T>G (p.Phe48Cys)
11g.2422948A>GCA379138710TRPM5c.89T>C (p.Phe30Ser)
c.65T>C (p.Phe22Ser)
c.350T>C (p.Phe117Ser)
c.143T>C (p.Phe48Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.2422948A>TCA379138709TRPM5c.89T>A (p.Phe30Tyr)
c.65T>A (p.Phe22Tyr)
c.350T>A (p.Phe117Tyr)
c.143T>A (p.Phe48Tyr)
11g.2422949A>CCA379138711TRPM5c.88T>G (p.Phe30Val)
c.64T>G (p.Phe22Val)
c.349T>G (p.Phe117Val)
c.142T>G (p.Phe48Val)
11g.2422949A>GCA379138712TRPM5c.88T>C (p.Phe30Leu)
c.64T>C (p.Phe22Leu)
c.349T>C (p.Phe117Leu)
c.142T>C (p.Phe48Leu)
11g.2422949A>TCA379138713TRPM5c.88T>A (p.Phe30Ile)
c.64T>A (p.Phe22Ile)
c.349T>A (p.Phe117Ile)
c.142T>A (p.Phe48Ile)
11g.2422950G>ACA472037935TRPM5c.87C>T (p.Asn29=)
c.63C>T (p.Asn21=)
c.348C>T (p.Asn116=)
c.141C>T (p.Asn47=)
11g.2422950G>CCA379138714TRPM5c.87C>G (p.Asn29Lys)
c.63C>G (p.Asn21Lys)
c.348C>G (p.Asn116Lys)
c.141C>G (p.Asn47Lys)
11g.2422950G>TCA379138715TRPM5c.87C>A (p.Asn29Lys)
c.63C>A (p.Asn21Lys)
c.348C>A (p.Asn116Lys)
c.141C>A (p.Asn47Lys)
 gnomAD v4
11g.2422951T>ACA379138716TRPM5c.86A>T (p.Asn29Ile)
c.62A>T (p.Asn21Ile)
c.347A>T (p.Asn116Ile)
c.140A>T (p.Asn47Ile)
11g.2422951T>CCA379138717TRPM5c.86A>G (p.Asn29Ser)
c.62A>G (p.Asn21Ser)
c.347A>G (p.Asn116Ser)
c.140A>G (p.Asn47Ser)
 dbSNP gnomAD v3 gnomAD v4
11g.2422951T>GCA379138718TRPM5c.86A>C (p.Asn29Thr)
c.62A>C (p.Asn21Thr)
c.347A>C (p.Asn116Thr)
c.140A>C (p.Asn47Thr)
11g.2422951T=CA1948149253TRPM5c.86A= (p.Asn29=)
c.62A= (p.Asn21=)
c.347A= (p.Asn116=)
c.140A= (p.Asn47=)
11g.2422952T>ACA379138719TRPM5c.85A>T (p.Asn29Tyr)
c.61A>T (p.Asn21Tyr)
c.346A>T (p.Asn116Tyr)
c.139A>T (p.Asn47Tyr)
11g.2422952T>CCA379138720TRPM5c.85A>G (p.Asn29Asp)
c.61A>G (p.Asn21Asp)
c.346A>G (p.Asn116Asp)
c.139A>G (p.Asn47Asp)
11g.2422952T>GCA379138721TRPM5c.85A>C (p.Asn29His)
c.61A>C (p.Asn21His)
c.346A>C (p.Asn116His)
c.139A>C (p.Asn47His)
11g.2422953G>ACA472037936TRPM5c.84C>T (p.Val28=)
c.60C>T (p.Val20=)
c.345C>T (p.Val115=)
c.138C>T (p.Val46=)
11g.2422953G>CCA472037937TRPM5c.84C>G (p.Val28=)
c.60C>G (p.Val20=)
c.345C>G (p.Val115=)
c.138C>G (p.Val46=)
 dbSNP gnomAD v2 gnomAD v4
11g.2422953G=CA1948149254TRPM5c.84C= (p.Val28=)
c.60C= (p.Val20=)
c.345C= (p.Val115=)
c.138C= (p.Val46=)
11g.2422953G>TCA472037938TRPM5c.84C>A (p.Val28=)
c.60C>A (p.Val20=)
c.345C>A (p.Val115=)
c.138C>A (p.Val46=)
11g.2422954A=CA1948149255TRPM5c.83T= (p.Val28=)
c.59T= (p.Val20=)
c.344T= (p.Val115=)
c.137T= (p.Val46=)
11g.2422954A>CCA379138724TRPM5c.83T>G (p.Val28Gly)
c.59T>G (p.Val20Gly)
c.344T>G (p.Val115Gly)
c.137T>G (p.Val46Gly)
 dbSNP
11g.2422954A>GCA379138723TRPM5c.83T>C (p.Val28Ala)
c.59T>C (p.Val20Ala)
c.344T>C (p.Val115Ala)
c.137T>C (p.Val46Ala)
11g.2422954A>TCA379138722TRPM5c.83T>A (p.Val28Asp)
c.59T>A (p.Val20Asp)
c.344T>A (p.Val115Asp)
c.137T>A (p.Val46Asp)
11g.2422955C>ACA5822031TRPM5c.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
11g.2422955C=CA1948149256TRPM5c.82G= (p.Val28=)
c.58G= (p.Val20=)
c.343G= (p.Val115=)
c.136G= (p.Val46=)
11g.2422955C>GCA379138725TRPM5c.82G>C (p.Val28Leu)
c.58G>C (p.Val20Leu)
c.343G>C (p.Val115Leu)
c.136G>C (p.Val46Leu)
11g.2422955C>TCA216340032TRPM5c.82G>A (p.Val28Ile)
c.58G>A (p.Val20Ile)
c.343G>A (p.Val115Ile)
c.136G>A (p.Val46Ile)
 dbSNP gnomAD v4
11g.2422956C>ACA379138726TRPM5c.81G>T (p.Glu27Asp)
c.57G>T (p.Glu19Asp)
c.342G>T (p.Glu114Asp)
c.135G>T (p.Glu45Asp)
11g.2422956C=CA1948149257TRPM5c.81G= (p.Glu27=)
c.57G= (p.Glu19=)
c.342G= (p.Glu114=)
c.135G= (p.Glu45=)
11g.2422956C>GCA379138727TRPM5c.81G>C (p.Glu27Asp)
c.57G>C (p.Glu19Asp)
c.342G>C (p.Glu114Asp)
c.135G>C (p.Glu45Asp)
11g.2422956C>TCA5822032TRPM5c.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
11g.2422957T>ACA379138728TRPM5c.80A>T (p.Glu27Val)
c.56A>T (p.Glu19Val)
c.341A>T (p.Glu114Val)
c.134A>T (p.Glu45Val)
11g.2422957T>CCA5822033TRPM5c.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
11g.2422957T>GCA379138729TRPM5c.80A>C (p.Glu27Ala)
c.56A>C (p.Glu19Ala)
c.341A>C (p.Glu114Ala)
c.134A>C (p.Glu45Ala)
11g.2422957T=CA1948149258TRPM5c.80A= (p.Glu27=)
c.56A= (p.Glu19=)
c.341A= (p.Glu114=)
c.134A= (p.Glu45=)
11g.2422958C>ACA379138730TRPM5c.79G>T (p.Glu27Ter)
c.55G>T (p.Glu19Ter)
c.340G>T (p.Glu114Ter)
c.133G>T (p.Glu45Ter)
 gnomAD v4
11g.2422958C=CA1948149259TRPM5c.79G= (p.Glu27=)
c.55G= (p.Glu19=)
c.340G= (p.Glu114=)
c.133G= (p.Glu45=)
11g.2422958C>GCA379138731TRPM5c.79G>C (p.Glu27Gln)
c.55G>C (p.Glu19Gln)
c.340G>C (p.Glu114Gln)
c.133G>C (p.Glu45Gln)
11g.2422958C>TCA5822034TRPM5c.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
11g.2422959G>ACA5822036TRPM5c.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
11g.2422959G>CCA5822035TRPM5c.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
11g.2422959G=CA1948149260TRPM5c.78C= (p.Gly26=)
c.54C= (p.Gly18=)
c.339C= (p.Gly113=)
c.132C= (p.Gly44=)
11g.2422959G>TCA472037939TRPM5c.78C>A (p.Gly26=)
c.54C>A (p.Gly18=)
c.339C>A (p.Gly113=)
c.132C>A (p.Gly44=)
 gnomAD v4
11g.2422960C>ACA379138732TRPM5c.77G>T (p.Gly26Val)
c.53G>T (p.Gly18Val)
c.338G>T (p.Gly113Val)
c.131G>T (p.Gly44Val)
 dbSNP gnomAD v2 gnomAD v4
11g.2422960C=CA1948149261TRPM5c.77G= (p.Gly26=)
c.53G= (p.Gly18=)
c.338G= (p.Gly113=)
c.131G= (p.Gly44=)
11g.2422960C>GCA379138733TRPM5c.77G>C (p.Gly26Ala)
c.53G>C (p.Gly18Ala)
c.338G>C (p.Gly113Ala)
c.131G>C (p.Gly44Ala)
11g.2422960C>TCA379138734TRPM5c.77G>A (p.Gly26Asp)
c.53G>A (p.Gly18Asp)
c.338G>A (p.Gly113Asp)
c.131G>A (p.Gly44Asp)
11g.2422963dupCA2612001824TRPM5c.77dup (p.Glu27ArgfsTer28)
c.53dup (p.Glu19ArgfsTer28)
c.338dup (p.Glu114ArgfsTer28)
c.131dup (p.Glu45ArgfsTer28)
 gnomAD v4
11g.2422961C>ACA379138735TRPM5c.76G>T (p.Gly26Cys)
c.52G>T (p.Gly18Cys)
c.337G>T (p.Gly113Cys)
c.130G>T (p.Gly44Cys)
11g.2422961C>GCA379138736TRPM5c.76G>C (p.Gly26Arg)
c.52G>C (p.Gly18Arg)
c.337G>C (p.Gly113Arg)
c.130G>C (p.Gly44Arg)
11g.2422961C>TCA379138737TRPM5c.76G>A (p.Gly26Ser)
c.52G>A (p.Gly18Ser)
c.337G>A (p.Gly113Ser)
c.130G>A (p.Gly44Ser)
11g.2422962C>ACA379138738TRPM5c.75G>T (p.Arg25Ser)
c.51G>T (p.Arg17Ser)
c.336G>T (p.Arg112Ser)
c.129G>T (p.Arg43Ser)
11g.2422962C>GCA379138739TRPM5c.75G>C (p.Arg25Ser)
c.51G>C (p.Arg17Ser)
c.336G>C (p.Arg112Ser)
c.129G>C (p.Arg43Ser)
11g.2422962C>TCA472037940TRPM5c.75G>A (p.Arg25=)
c.51G>A (p.Arg17=)
c.336G>A (p.Arg112=)
c.129G>A (p.Arg43=)
 gnomAD v4 COSMIC
11g.2422963C>ACA379138740TRPM5c.74G>T (p.Arg25Met)
c.50G>T (p.Arg17Met)
c.335G>T (p.Arg112Met)
c.128G>T (p.Arg43Met)
11g.2422963C>GCA379138741TRPM5c.74G>C (p.Arg25Thr)
c.50G>C (p.Arg17Thr)
c.335G>C (p.Arg112Thr)
c.128G>C (p.Arg43Thr)
 gnomAD v3 gnomAD v4
11g.2422963C>TCA379138742TRPM5c.74G>A (p.Arg25Lys)
c.50G>A (p.Arg17Lys)
c.335G>A (p.Arg112Lys)
c.128G>A (p.Arg43Lys)
11g.2422964T>ACA379138743TRPM5c.73A>T (p.Arg25Trp)
c.49A>T (p.Arg17Trp)
c.334A>T (p.Arg112Trp)
c.127A>T (p.Arg43Trp)
11g.2422964T>CCA379138744TRPM5c.73A>G (p.Arg25Gly)
c.49A>G (p.Arg17Gly)
c.334A>G (p.Arg112Gly)
c.127A>G (p.Arg43Gly)
11g.2422964T>GCA5822037TRPM5c.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
11g.2422964T=CA1948149262TRPM5c.73A= (p.Arg25=)
c.49A= (p.Arg17=)
c.334A= (p.Arg112=)
c.127A= (p.Arg43=)
11g.2422965G>ACA472037941TRPM5c.72C>T (p.His24=)
c.48C>T (p.His16=)
c.333C>T (p.His111=)
c.126C>T (p.His42=)
 gnomAD v4
11g.2422965G>CCA379138745TRPM5c.72C>G (p.His24Gln)
c.48C>G (p.His16Gln)
c.333C>G (p.His111Gln)
c.126C>G (p.His42Gln)
11g.2422965G>TCA379138746TRPM5c.72C>A (p.His24Gln)
c.48C>A (p.His16Gln)
c.333C>A (p.His111Gln)
c.126C>A (p.His42Gln)
11g.2422966T>ACA379138747TRPM5c.71A>T (p.His24Leu)
c.47A>T (p.His16Leu)
c.332A>T (p.His111Leu)
c.125A>T (p.His42Leu)
 gnomAD v4
11g.2422966T>CCA379138748TRPM5c.71A>G (p.His24Arg)
c.47A>G (p.His16Arg)
c.332A>G (p.His111Arg)
c.125A>G (p.His42Arg)
11g.2422966T>GCA379138749TRPM5c.71A>C (p.His24Pro)
c.47A>C (p.His16Pro)
c.332A>C (p.His111Pro)
c.125A>C (p.His42Pro)
11g.2422967G>ACA379138750TRPM5c.70C>T (p.His24Tyr)
c.46C>T (p.His16Tyr)
c.331C>T (p.His111Tyr)
c.124C>T (p.His42Tyr)
11g.2422967G>CCA379138751TRPM5c.70C>G (p.His24Asp)
c.46C>G (p.His16Asp)
c.331C>G (p.His111Asp)
c.124C>G (p.His42Asp)
11g.2422967G>TCA379138752TRPM5c.70C>A (p.His24Asn)
c.46C>A (p.His16Asn)
c.331C>A (p.His111Asn)
c.124C>A (p.His42Asn)
11g.2422968C>ACA379138753TRPM5c.69G>T (p.Leu23Phe)
c.45G>T (p.Leu15Phe)
c.330G>T (p.Leu110Phe)
c.123G>T (p.Leu41Phe)
11g.2422968C=CA1948149263TRPM5c.69G= (p.Leu23=)
c.45G= (p.Leu15=)
c.330G= (p.Leu110=)
c.123G= (p.Leu41=)
11g.2422968C>GCA379138754TRPM5c.69G>C (p.Leu23Phe)
c.45G>C (p.Leu15Phe)
c.330G>C (p.Leu110Phe)
c.123G>C (p.Leu41Phe)
11g.2422968C>TCA5822038TRPM5c.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
11g.2422969A>CCA379138755TRPM5c.68T>G (p.Leu23Trp)
c.44T>G (p.Leu15Trp)
c.329T>G (p.Leu110Trp)
c.122T>G (p.Leu41Trp)
11g.2422969A>GCA379138756TRPM5c.68T>C (p.Leu23Ser)
c.44T>C (p.Leu15Ser)
c.329T>C (p.Leu110Ser)
c.122T>C (p.Leu41Ser)
11g.2422969A>TCA379138757TRPM5c.68T>A (p.Leu23Ter)
c.44T>A (p.Leu15Ter)
c.329T>A (p.Leu110Ter)
c.122T>A (p.Leu41Ter)
11g.2422970A>CCA379138759TRPM5c.67T>G (p.Leu23Val)
c.43T>G (p.Leu15Val)
c.328T>G (p.Leu110Val)
c.121T>G (p.Leu41Val)
11g.2422970A>GCA472037942TRPM5c.67T>C (p.Leu23=)
c.43T>C (p.Leu15=)
c.328T>C (p.Leu110=)
c.121T>C (p.Leu41=)
11g.2422970A>TCA379138758TRPM5c.67T>A (p.Leu23Met)
c.43T>A (p.Leu15Met)
c.328T>A (p.Leu110Met)
c.121T>A (p.Leu41Met)
11g.2422971G>ACA472037943TRPM5c.66C>T (p.Gly22=)
c.42C>T (p.Gly14=)
c.327C>T (p.Gly109=)
c.120C>T (p.Gly40=)
11g.2422971G>CCA472037944TRPM5c.66C>G (p.Gly22=)
c.42C>G (p.Gly14=)
c.327C>G (p.Gly109=)
c.120C>G (p.Gly40=)
11g.2422971G>TCA472037945TRPM5c.66C>A (p.Gly22=)
c.42C>A (p.Gly14=)
c.327C>A (p.Gly109=)
c.120C>A (p.Gly40=)
11g.2422972C>ACA379138760TRPM5c.65G>T (p.Gly22Val)
c.41G>T (p.Gly14Val)
c.326G>T (p.Gly109Val)
c.119G>T (p.Gly40Val)
11g.2422972C>GCA379138761TRPM5c.65G>C (p.Gly22Ala)
c.41G>C (p.Gly14Ala)
c.326G>C (p.Gly109Ala)
c.119G>C (p.Gly40Ala)
11g.2422972C>TCA379138762TRPM5c.65G>A (p.Gly22Asp)
c.41G>A (p.Gly14Asp)
c.326G>A (p.Gly109Asp)
c.119G>A (p.Gly40Asp)
11g.2422973C>ACA379138763TRPM5c.64G>T (p.Gly22Cys)
c.40G>T (p.Gly14Cys)
c.325G>T (p.Gly109Cys)
c.118G>T (p.Gly40Cys)
11g.2422973C>GCA379138764TRPM5c.64G>C (p.Gly22Arg)
c.40G>C (p.Gly14Arg)
c.325G>C (p.Gly109Arg)
c.118G>C (p.Gly40Arg)
11g.2422973C>TCA379138765TRPM5c.64G>A (p.Gly22Ser)
c.40G>A (p.Gly14Ser)
c.325G>A (p.Gly109Ser)
c.118G>A (p.Gly40Ser)
11g.2422974C>ACA472037946TRPM5c.63G>T (p.Leu21=)
c.39G>T (p.Leu13=)
c.324G>T (p.Leu108=)
c.117G>T (p.Leu39=)
 gnomAD v4
11g.2422974C>GCA472037947TRPM5c.63G>C (p.Leu21=)
c.39G>C (p.Leu13=)
c.324G>C (p.Leu108=)
c.117G>C (p.Leu39=)
11g.2422974C>TCA472037948TRPM5c.63G>A (p.Leu21=)
c.39G>A (p.Leu13=)
c.324G>A (p.Leu108=)
c.117G>A (p.Leu39=)
 dbSNP gnomAD v4
11g.2422975A>CCA379138768TRPM5c.62T>G (p.Leu21Arg)
c.38T>G (p.Leu13Arg)
c.323T>G (p.Leu108Arg)
c.116T>G (p.Leu39Arg)
11g.2422975A>GCA379138767TRPM5c.62T>C (p.Leu21Pro)
c.38T>C (p.Leu13Pro)
c.323T>C (p.Leu108Pro)
c.116T>C (p.Leu39Pro)
11g.2422975A>TCA379138766TRPM5c.62T>A (p.Leu21Gln)
c.38T>A (p.Leu13Gln)
c.323T>A (p.Leu108Gln)
c.116T>A (p.Leu39Gln)
11g.2422976G>ACA472037949TRPM5c.61C>T (p.Leu21=)
c.37C>T (p.Leu13=)
c.322C>T (p.Leu108=)
c.115C>T (p.Leu39=)
11g.2422976G>CCA379138769TRPM5c.61C>G (p.Leu21Val)
c.37C>G (p.Leu13Val)
c.322C>G (p.Leu108Val)
c.115C>G (p.Leu39Val)
11g.2422976G>TCA379138770TRPM5c.61C>A (p.Leu21Met)
c.37C>A (p.Leu13Met)
c.322C>A (p.Leu108Met)
c.115C>A (p.Leu39Met)
11g.2422977C>ACA379138771TRPM5c.60G>T (p.Glu20Asp)
c.36G>T (p.Glu12Asp)
c.321G>T (p.Glu107Asp)
c.114G>T (p.Glu38Asp)
11g.2422977C>GCA379138772TRPM5c.60G>C (p.Glu20Asp)
c.36G>C (p.Glu12Asp)
c.321G>C (p.Glu107Asp)
c.114G>C (p.Glu38Asp)
11g.2422977C>TCA472037950TRPM5c.60G>A (p.Glu20=)
c.36G>A (p.Glu12=)
c.321G>A (p.Glu107=)
c.114G>A (p.Glu38=)
 gnomAD v4
11g.2422978T>ACA379138773TRPM5c.59A>T (p.Glu20Val)
c.35A>T (p.Glu12Val)
c.320A>T (p.Glu107Val)
c.113A>T (p.Glu38Val)
11g.2422978T>CCA379138774TRPM5c.59A>G (p.Glu20Gly)
c.35A>G (p.Glu12Gly)
c.320A>G (p.Glu107Gly)
c.113A>G (p.Glu38Gly)
 dbSNP
11g.2422978T>GCA379138775TRPM5c.59A>C (p.Glu20Ala)
c.35A>C (p.Glu12Ala)
c.320A>C (p.Glu107Ala)
c.113A>C (p.Glu38Ala)
11g.2422978T=CA1948149264TRPM5c.59A= (p.Glu20=)
c.35A= (p.Glu12=)
c.320A= (p.Glu107=)
c.113A= (p.Glu38=)
11g.2422979C>ACA379138776TRPM5c.58G>T (p.Glu20Ter)
c.34G>T (p.Glu12Ter)
c.319G>T (p.Glu107Ter)
c.112G>T (p.Glu38Ter)
11g.2422979C=CA1948149265TRPM5c.58G= (p.Glu20=)
c.34G= (p.Glu12=)
c.319G= (p.Glu107=)
c.112G= (p.Glu38=)
11g.2422979C>GCA379138777TRPM5c.58G>C (p.Glu20Gln)
c.34G>C (p.Glu12Gln)
c.319G>C (p.Glu107Gln)
c.112G>C (p.Glu38Gln)
 gnomAD v4
11g.2422979C>TCA216340064TRPM5c.58G>A (p.Glu20Lys)
c.34G>A (p.Glu12Lys)
c.319G>A (p.Glu107Lys)
c.112G>A (p.Glu38Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2422980C>ACA472037951TRPM5c.57G>T (p.Arg19=)
c.33G>T (p.Arg11=)
c.318G>T (p.Arg106=)
c.111G>T (p.Arg37=)
11g.2422980C=CA1948149266TRPM5c.57G= (p.Arg19=)
c.33G= (p.Arg11=)
c.318G= (p.Arg106=)
c.111G= (p.Arg37=)
11g.2422980C>GCA472037953TRPM5c.57G>C (p.Arg19=)
c.33G>C (p.Arg11=)
c.318G>C (p.Arg106=)
c.111G>C (p.Arg37=)
11g.2422980C>TCA472037952TRPM5c.57G>A (p.Arg19=)
c.33G>A (p.Arg11=)
c.318G>A (p.Arg106=)
c.111G>A (p.Arg37=)
 dbSNP COSMIC
11g.2422981C>ACA379138778TRPM5c.56G>T (p.Arg19Leu)
c.32G>T (p.Arg11Leu)
c.317G>T (p.Arg106Leu)
c.110G>T (p.Arg37Leu)
11g.2422981C=CA1948149267TRPM5c.56G= (p.Arg19=)
c.32G= (p.Arg11=)
c.317G= (p.Arg106=)
c.110G= (p.Arg37=)
11g.2422981C>GCA379138779TRPM5c.56G>C (p.Arg19Pro)
c.32G>C (p.Arg11Pro)
c.317G>C (p.Arg106Pro)
c.110G>C (p.Arg37Pro)
11g.2422981C>TCA5822039TRPM5c.56G>A (p.Arg19Gln)
c.32G>A (p.Arg11Gln)
c.317G>A (p.Arg106Gln)
c.110G>A (p.Arg37Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2422982G>ACA5822040TRPM5c.55C>T (p.Arg19Trp)
c.31C>T (p.Arg11Trp)
c.316C>T (p.Arg106Trp)
c.109C>T (p.Arg37Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2422982G>CCA379138780TRPM5c.55C>G (p.Arg19Gly)
c.31C>G (p.Arg11Gly)
c.316C>G (p.Arg106Gly)
c.109C>G (p.Arg37Gly)
11g.2422982G=CA1948149268TRPM5c.55C= (p.Arg19=)
c.31C= (p.Arg11=)
c.316C= (p.Arg106=)
c.109C= (p.Arg37=)
11g.2422982G>TCA472037954TRPM5c.55C>A (p.Arg19=)
c.31C>A (p.Arg11=)
c.316C>A (p.Arg106=)
c.109C>A (p.Arg37=)
 gnomAD v4
11g.2422983C>ACA472037957TRPM5c.54G>T (p.Arg18=)
c.30G>T (p.Arg10=)
c.315G>T (p.Arg105=)
c.108G>T (p.Arg36=)
 gnomAD v4
11g.2422983C>GCA472037955TRPM5c.54G>C (p.Arg18=)
c.30G>C (p.Arg10=)
c.315G>C (p.Arg105=)
c.108G>C (p.Arg36=)
11g.2422983C>TCA472037956TRPM5c.54G>A (p.Arg18=)
c.30G>A (p.Arg10=)
c.315G>A (p.Arg105=)
c.108G>A (p.Arg36=)
 dbSNP gnomAD v4 COSMIC
11g.2422984C>ACA5822042TRPM5c.53G>T (p.Arg18Leu)
c.29G>T (p.Arg10Leu)
c.314G>T (p.Arg105Leu)
c.107G>T (p.Arg36Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2422984C=CA1948149269TRPM5c.53G= (p.Arg18=)
c.29G= (p.Arg10=)
c.314G= (p.Arg105=)
c.107G= (p.Arg36=)
11g.2422984C>GCA379138781TRPM5c.53G>C (p.Arg18Pro)
c.29G>C (p.Arg10Pro)
c.314G>C (p.Arg105Pro)
c.107G>C (p.Arg36Pro)
 gnomAD v4
11g.2422984C>TCA5822041TRPM5c.53G>A (p.Arg18Gln)
c.29G>A (p.Arg10Gln)
c.314G>A (p.Arg105Gln)
c.107G>A (p.Arg36Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.2422985G>ACA379138782TRPM5c.52C>T (p.Arg18Trp)
c.28C>T (p.Arg10Trp)
c.313C>T (p.Arg105Trp)
c.106C>T (p.Arg36Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2422985G>CCA5822043TRPM5c.52C>G (p.Arg18Gly)
c.28C>G (p.Arg10Gly)
c.313C>G (p.Arg105Gly)
c.106C>G (p.Arg36Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2422985G=CA1948149270TRPM5c.52C= (p.Arg18=)
c.28C= (p.Arg10=)
c.313C= (p.Arg105=)
c.106C= (p.Arg36=)
11g.2422985G>TCA472037958TRPM5c.52C>A (p.Arg18=)
c.28C>A (p.Arg10=)
c.313C>A (p.Arg105=)
c.106C>A (p.Arg36=)
11g.2422986G>ACA472037959TRPM5c.51C>T (p.Asp17=)
c.27C>T (p.Asp9=)
c.312C>T (p.Asp104=)
c.105C>T (p.Asp35=)
 gnomAD v4
11g.2422986G>CCA379138783TRPM5c.51C>G (p.Asp17Glu)
c.27C>G (p.Asp9Glu)
c.312C>G (p.Asp104Glu)
c.105C>G (p.Asp35Glu)
11g.2422986G>TCA379138784TRPM5c.51C>A (p.Asp17Glu)
c.27C>A (p.Asp9Glu)
c.312C>A (p.Asp104Glu)
c.105C>A (p.Asp35Glu)

Number of alleles fetched