Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.2411636A>CCA379132392TRPM5c.2606T>G (p.Met869Arg)
c.2588T>G (p.Met863Arg)
c.2867T>G (p.Met956Arg)
c.2660T>G (p.Met887Arg)
11g.2411636A>GCA379132393TRPM5c.2606T>C (p.Met869Thr)
c.2588T>C (p.Met863Thr)
c.2867T>C (p.Met956Thr)
c.2660T>C (p.Met887Thr)
11g.2411636A>TCA379132394TRPM5c.2606T>A (p.Met869Lys)
c.2588T>A (p.Met863Lys)
c.2867T>A (p.Met956Lys)
c.2660T>A (p.Met887Lys)
11g.2411637T>ACA379132395TRPM5c.2605A>T (p.Met869Leu)
c.2587A>T (p.Met863Leu)
c.2866A>T (p.Met956Leu)
c.2659A>T (p.Met887Leu)
11g.2411637T>CCA216322501TRPM5c.2605A>G (p.Met869Val)
c.2587A>G (p.Met863Val)
c.2866A>G (p.Met956Val)
c.2659A>G (p.Met887Val)
 dbSNP
11g.2411637T>GCA379132396TRPM5c.2605A>C (p.Met869Leu)
c.2587A>C (p.Met863Leu)
c.2866A>C (p.Met956Leu)
c.2659A>C (p.Met887Leu)
11g.2411637T=CA1948131463TRPM5c.2605A= (p.Met869=)
c.2587A= (p.Met863=)
c.2866A= (p.Met956=)
c.2659A= (p.Met887=)
11g.2411638G>ACA472415381TRPM5c.2604C>T (p.Arg868=)
c.2586C>T (p.Arg862=)
c.2865C>T (p.Arg955=)
c.2658C>T (p.Arg886=)
11g.2411638G>CCA472415382TRPM5c.2604C>G (p.Arg868=)
c.2586C>G (p.Arg862=)
c.2865C>G (p.Arg955=)
c.2658C>G (p.Arg886=)
11g.2411638G=CA1948131467TRPM5c.2604C= (p.Arg868=)
c.2586C= (p.Arg862=)
c.2865C= (p.Arg955=)
c.2658C= (p.Arg886=)
11g.2411638G>TCA5821007TRPM5c.2604C>A (p.Arg868=)
c.2586C>A (p.Arg862=)
c.2865C>A (p.Arg955=)
c.2658C>A (p.Arg886=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2411639C>ACA379132397TRPM5c.2603G>T (p.Arg868Leu)
c.2585G>T (p.Arg862Leu)
c.2864G>T (p.Arg955Leu)
c.2657G>T (p.Arg886Leu)
 dbSNP gnomAD v2 gnomAD v4
11g.2411639C=CA1948131471TRPM5c.2603G= (p.Arg868=)
c.2585G= (p.Arg862=)
c.2864G= (p.Arg955=)
c.2657G= (p.Arg886=)
11g.2411639C>GCA379132398TRPM5c.2603G>C (p.Arg868Pro)
c.2585G>C (p.Arg862Pro)
c.2864G>C (p.Arg955Pro)
c.2657G>C (p.Arg886Pro)
11g.2411639C>TCA5821008TRPM5c.2603G>A (p.Arg868His)
c.2585G>A (p.Arg862His)
c.2864G>A (p.Arg955His)
c.2657G>A (p.Arg886His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.2411640G>ACA5821009TRPM5c.2602C>T (p.Arg868Cys)
c.2584C>T (p.Arg862Cys)
c.2863C>T (p.Arg955Cys)
c.2656C>T (p.Arg886Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2411640G>CCA379132399TRPM5c.2602C>G (p.Arg868Gly)
c.2584C>G (p.Arg862Gly)
c.2863C>G (p.Arg955Gly)
c.2656C>G (p.Arg886Gly)
11g.2411640G=CA1948131476TRPM5c.2602C= (p.Arg868=)
c.2584C= (p.Arg862=)
c.2863C= (p.Arg955=)
c.2656C= (p.Arg886=)
11g.2411640G>TCA379132400TRPM5c.2602C>A (p.Arg868Ser)
c.2584C>A (p.Arg862Ser)
c.2863C>A (p.Arg955Ser)
c.2656C>A (p.Arg886Ser)
 gnomAD v4
11g.2411641C>ACA379132402TRPM5c.2601G>T (p.Glu867Asp)
c.2583G>T (p.Glu861Asp)
c.2862G>T (p.Glu954Asp)
c.2655G>T (p.Glu885Asp)
11g.2411641C>GCA379132401TRPM5c.2601G>C (p.Glu867Asp)
c.2583G>C (p.Glu861Asp)
c.2862G>C (p.Glu954Asp)
c.2655G>C (p.Glu885Asp)
 gnomAD v4
11g.2411641C>TCA472415386TRPM5c.2601G>A (p.Glu867=)
c.2583G>A (p.Glu861=)
c.2862G>A (p.Glu954=)
c.2655G>A (p.Glu885=)
 gnomAD v4
11g.2411642T>ACA379132403TRPM5c.2600A>T (p.Glu867Val)
c.2582A>T (p.Glu861Val)
c.2861A>T (p.Glu954Val)
c.2654A>T (p.Glu885Val)
11g.2411642T>CCA379132404TRPM5c.2600A>G (p.Glu867Gly)
c.2582A>G (p.Glu861Gly)
c.2861A>G (p.Glu954Gly)
c.2654A>G (p.Glu885Gly)
11g.2411642T>GCA379132405TRPM5c.2600A>C (p.Glu867Ala)
c.2582A>C (p.Glu861Ala)
c.2861A>C (p.Glu954Ala)
c.2654A>C (p.Glu885Ala)
11g.2411643C>ACA379132406TRPM5c.2599G>T (p.Glu867Ter)
c.2581G>T (p.Glu861Ter)
c.2860G>T (p.Glu954Ter)
c.2653G>T (p.Glu885Ter)
11g.2411643C>GCA379132407TRPM5c.2599G>C (p.Glu867Gln)
c.2581G>C (p.Glu861Gln)
c.2860G>C (p.Glu954Gln)
c.2653G>C (p.Glu885Gln)
11g.2411643C>TCA379132408TRPM5c.2599G>A (p.Glu867Lys)
c.2581G>A (p.Glu861Lys)
c.2860G>A (p.Glu954Lys)
c.2653G>A (p.Glu885Lys)
11g.2411644T>ACA472415387TRPM5c.2598A>T (p.Val866=)
c.2580A>T (p.Val860=)
c.2859A>T (p.Val953=)
c.2652A>T (p.Val884=)
11g.2411644T>CCA472415389TRPM5c.2598A>G (p.Val866=)
c.2580A>G (p.Val860=)
c.2859A>G (p.Val953=)
c.2652A>G (p.Val884=)
11g.2411644T>GCA472415388TRPM5c.2598A>C (p.Val866=)
c.2580A>C (p.Val860=)
c.2859A>C (p.Val953=)
c.2652A>C (p.Val884=)
11g.2411645A=CA1948131479TRPM5c.2597T= (p.Val866=)
c.2579T= (p.Val860=)
c.2858T= (p.Val953=)
c.2651T= (p.Val884=)
11g.2411645A>CCA379132409TRPM5c.2597T>G (p.Val866Gly)
c.2579T>G (p.Val860Gly)
c.2858T>G (p.Val953Gly)
c.2651T>G (p.Val884Gly)
11g.2411645A>GCA5821010TRPM5c.2597T>C (p.Val866Ala)
c.2579T>C (p.Val860Ala)
c.2858T>C (p.Val953Ala)
c.2651T>C (p.Val884Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2411645A>TCA379132410TRPM5c.2597T>A (p.Val866Glu)
c.2579T>A (p.Val860Glu)
c.2858T>A (p.Val953Glu)
c.2651T>A (p.Val884Glu)
11g.2411646C>ACA5821011TRPM5c.2596G>T (p.Val866Leu)
c.2578G>T (p.Val860Leu)
c.2857G>T (p.Val953Leu)
c.2650G>T (p.Val884Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2411646C=CA1948131484TRPM5c.2596G= (p.Val866=)
c.2578G= (p.Val860=)
c.2857G= (p.Val953=)
c.2650G= (p.Val884=)
11g.2411646C>GCA379132411TRPM5c.2596G>C (p.Val866Leu)
c.2578G>C (p.Val860Leu)
c.2857G>C (p.Val953Leu)
c.2650G>C (p.Val884Leu)
11g.2411646C>TCA379132412TRPM5c.2596G>A (p.Val866Ile)
c.2578G>A (p.Val860Ile)
c.2857G>A (p.Val953Ile)
c.2650G>A (p.Val884Ile)
 dbSNP
11g.2411647C>ACA5821012TRPM5c.2595G>T (p.Val865=)
c.2577G>T (p.Val859=)
c.2856G>T (p.Val952=)
c.2649G>T (p.Val883=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2411647C=CA1948131488TRPM5c.2595G= (p.Val865=)
c.2577G= (p.Val859=)
c.2856G= (p.Val952=)
c.2649G= (p.Val883=)
11g.2411647C>GCA472415390TRPM5c.2595G>C (p.Val865=)
c.2577G>C (p.Val859=)
c.2856G>C (p.Val952=)
c.2649G>C (p.Val883=)
 dbSNP
11g.2411647C>TCA472415391TRPM5c.2595G>A (p.Val865=)
c.2577G>A (p.Val859=)
c.2856G>A (p.Val952=)
c.2649G>A (p.Val883=)
11g.2411648A=CA1948131491TRPM5c.2594T= (p.Val865=)
c.2576T= (p.Val859=)
c.2855T= (p.Val952=)
c.2648T= (p.Val883=)
11g.2411648A>CCA379132414TRPM5c.2594T>G (p.Val865Gly)
c.2576T>G (p.Val859Gly)
c.2855T>G (p.Val952Gly)
c.2648T>G (p.Val883Gly)
11g.2411648A>GCA379132415TRPM5c.2594T>C (p.Val865Ala)
c.2576T>C (p.Val859Ala)
c.2855T>C (p.Val952Ala)
c.2648T>C (p.Val883Ala)
 dbSNP gnomAD v4
11g.2411648A>TCA379132413TRPM5c.2594T>A (p.Val865Glu)
c.2576T>A (p.Val859Glu)
c.2855T>A (p.Val952Glu)
c.2648T>A (p.Val883Glu)
11g.2411649C>ACA379132417TRPM5c.2593G>T (p.Val865Leu)
c.2575G>T (p.Val859Leu)
c.2854G>T (p.Val952Leu)
c.2647G>T (p.Val883Leu)
11g.2411649C=CA1948131493TRPM5c.2593G= (p.Val865=)
c.2575G= (p.Val859=)
c.2854G= (p.Val952=)
c.2647G= (p.Val883=)
11g.2411649C>GCA379132416TRPM5c.2593G>C (p.Val865Leu)
c.2575G>C (p.Val859Leu)
c.2854G>C (p.Val952Leu)
c.2647G>C (p.Val883Leu)
11g.2411649C>TCA379132418TRPM5c.2593G>A (p.Val865Met)
c.2575G>A (p.Val859Met)
c.2854G>A (p.Val952Met)
c.2647G>A (p.Val883Met)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.2411650G>ACA5821013TRPM5c.2592C>T (p.Ile864=)
c.2574C>T (p.Ile858=)
c.2853C>T (p.Ile951=)
c.2646C>T (p.Ile882=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2411650G>CCA379132419TRPM5c.2592C>G (p.Ile864Met)
c.2574C>G (p.Ile858Met)
c.2853C>G (p.Ile951Met)
c.2646C>G (p.Ile882Met)
 dbSNP gnomAD v2 gnomAD v4
11g.2411650G=CA1948131500TRPM5c.2592C= (p.Ile864=)
c.2574C= (p.Ile858=)
c.2853C= (p.Ile951=)
c.2646C= (p.Ile882=)
11g.2411650G>TCA472415392TRPM5c.2592C>A (p.Ile864=)
c.2574C>A (p.Ile858=)
c.2853C>A (p.Ile951=)
c.2646C>A (p.Ile882=)
11g.2411651A=CA1948131503TRPM5c.2591T= (p.Ile864=)
c.2573T= (p.Ile858=)
c.2852T= (p.Ile951=)
c.2645T= (p.Ile882=)
11g.2411651A>CCA379132420TRPM5c.2591T>G (p.Ile864Ser)
c.2573T>G (p.Ile858Ser)
c.2852T>G (p.Ile951Ser)
c.2645T>G (p.Ile882Ser)
11g.2411651A>GCA5821014TRPM5c.2591T>C (p.Ile864Thr)
c.2573T>C (p.Ile858Thr)
c.2852T>C (p.Ile951Thr)
c.2645T>C (p.Ile882Thr)
 dbSNP ExAC
11g.2411651A>TCA379132421TRPM5c.2591T>A (p.Ile864Asn)
c.2573T>A (p.Ile858Asn)
c.2852T>A (p.Ile951Asn)
c.2645T>A (p.Ile882Asn)
11g.2411652T>ACA379132422TRPM5c.2590A>T (p.Ile864Phe)
c.2572A>T (p.Ile858Phe)
c.2851A>T (p.Ile951Phe)
c.2644A>T (p.Ile882Phe)
11g.2411652T>CCA379132423TRPM5c.2590A>G (p.Ile864Val)
c.2572A>G (p.Ile858Val)
c.2851A>G (p.Ile951Val)
c.2644A>G (p.Ile882Val)
11g.2411652T>GCA379132424TRPM5c.2590A>C (p.Ile864Leu)
c.2572A>C (p.Ile858Leu)
c.2851A>C (p.Ile951Leu)
c.2644A>C (p.Ile882Leu)
11g.2411653G>ACA472415393TRPM5c.2589C>T (p.Ile863=)
c.2571C>T (p.Ile857=)
c.2850C>T (p.Ile950=)
c.2643C>T (p.Ile881=)
11g.2411653G>CCA379132425TRPM5c.2589C>G (p.Ile863Met)
c.2571C>G (p.Ile857Met)
c.2850C>G (p.Ile950Met)
c.2643C>G (p.Ile881Met)
11g.2411653G>TCA472415394TRPM5c.2589C>A (p.Ile863=)
c.2571C>A (p.Ile857=)
c.2850C>A (p.Ile950=)
c.2643C>A (p.Ile881=)
11g.2411654A>CCA379132426TRPM5c.2588T>G (p.Ile863Ser)
c.2570T>G (p.Ile857Ser)
c.2849T>G (p.Ile950Ser)
c.2642T>G (p.Ile881Ser)
11g.2411654A>GCA379132427TRPM5c.2588T>C (p.Ile863Thr)
c.2570T>C (p.Ile857Thr)
c.2849T>C (p.Ile950Thr)
c.2642T>C (p.Ile881Thr)
11g.2411654A>TCA379132428TRPM5c.2588T>A (p.Ile863Asn)
c.2570T>A (p.Ile857Asn)
c.2849T>A (p.Ile950Asn)
c.2642T>A (p.Ile881Asn)
 COSMIC
11g.2411655T>ACA379132430TRPM5c.2587A>T (p.Ile863Phe)
c.2569A>T (p.Ile857Phe)
c.2848A>T (p.Ile950Phe)
c.2641A>T (p.Ile881Phe)
 gnomAD v4
11g.2411655T>CCA379132431TRPM5c.2587A>G (p.Ile863Val)
c.2569A>G (p.Ile857Val)
c.2848A>G (p.Ile950Val)
c.2641A>G (p.Ile881Val)
 gnomAD v4
11g.2411655T>GCA379132429TRPM5c.2587A>C (p.Ile863Leu)
c.2569A>C (p.Ile857Leu)
c.2848A>C (p.Ile950Leu)
c.2641A>C (p.Ile881Leu)
11g.2411656C>ACA379132432TRPM5c.2586G>T (p.Lys862Asn)
c.2568G>T (p.Lys856Asn)
c.2847G>T (p.Lys949Asn)
c.2640G>T (p.Lys880Asn)
11g.2411656C=CA1948131508TRPM5c.2586G= (p.Lys862=)
c.2568G= (p.Lys856=)
c.2847G= (p.Lys949=)
c.2640G= (p.Lys880=)
11g.2411656C>GCA379132433TRPM5c.2586G>C (p.Lys862Asn)
c.2568G>C (p.Lys856Asn)
c.2847G>C (p.Lys949Asn)
c.2640G>C (p.Lys880Asn)
11g.2411656C>TCA472415395TRPM5c.2586G>A (p.Lys862=)
c.2568G>A (p.Lys856=)
c.2847G>A (p.Lys949=)
c.2640G>A (p.Lys880=)
 dbSNP
11g.2411657T>ACA379132434TRPM5c.2585A>T (p.Lys862Met)
c.2567A>T (p.Lys856Met)
c.2846A>T (p.Lys949Met)
c.2639A>T (p.Lys880Met)
11g.2411657T>CCA379132435TRPM5c.2585A>G (p.Lys862Arg)
c.2567A>G (p.Lys856Arg)
c.2846A>G (p.Lys949Arg)
c.2639A>G (p.Lys880Arg)
11g.2411657T>GCA379132436TRPM5c.2585A>C (p.Lys862Thr)
c.2567A>C (p.Lys856Thr)
c.2846A>C (p.Lys949Thr)
c.2639A>C (p.Lys880Thr)
11g.2411658T>ACA379132439TRPM5c.2584A>T (p.Lys862Ter)
c.2566A>T (p.Lys856Ter)
c.2845A>T (p.Lys949Ter)
c.2638A>T (p.Lys880Ter)
11g.2411658T>CCA379132437TRPM5c.2584A>G (p.Lys862Glu)
c.2566A>G (p.Lys856Glu)
c.2845A>G (p.Lys949Glu)
c.2638A>G (p.Lys880Glu)
 gnomAD v4
11g.2411658T>GCA379132438TRPM5c.2584A>C (p.Lys862Gln)
c.2566A>C (p.Lys856Gln)
c.2845A>C (p.Lys949Gln)
c.2638A>C (p.Lys880Gln)
11g.2411658_2411659delinsTGCA1948131510TRPM5c.2583_2584delinsCA (p.Pro861=)
c.2565_2566delinsCA (p.Pro855=)
c.2844_2845delinsCA (p.Pro948=)
c.2637_2638delinsCA (p.Pro879=)
11g.2411661_2411681dupCA2611994924TRPM5c.2564_2584dup (p.Pro861_Lys862insIleHisLysGlnLeuGlyPro)
c.2546_2566dup (p.Pro855_Lys856insIleHisLysGlnLeuGlyPro)
c.2825_2845dup (p.Pro948_Lys949insIleHisLysGlnLeuGlyPro)
c.2618_2638dup (p.Pro879_Lys880insIleHisLysGlnLeuGlyPro)
 gnomAD v4
11g.2411659G>ACA472415398TRPM5c.2583C>T (p.Pro861=)
c.2565C>T (p.Pro855=)
c.2844C>T (p.Pro948=)
c.2637C>T (p.Pro879=)
11g.2411659G>CCA472415396TRPM5c.2583C>G (p.Pro861=)
c.2565C>G (p.Pro855=)
c.2844C>G (p.Pro948=)
c.2637C>G (p.Pro879=)
 dbSNP gnomAD v3 gnomAD v4
11g.2411659G=CA1948131514TRPM5c.2583C= (p.Pro861=)
c.2565C= (p.Pro855=)
c.2844C= (p.Pro948=)
c.2637C= (p.Pro879=)
11g.2411659G>TCA472415397TRPM5c.2583C>A (p.Pro861=)
c.2565C>A (p.Pro855=)
c.2844C>A (p.Pro948=)
c.2637C>A (p.Pro879=)
11g.2411662delCA1948131512TRPM5c.2583del (p.Lys862ArgfsTer5)
c.2565del (p.Lys856ArgfsTer5)
c.2844del (p.Lys949ArgfsTer5)
c.2637del (p.Lys880ArgfsTer5)
 dbSNP
11g.2411660G>ACA379132440TRPM5c.2582C>T (p.Pro861Leu)
c.2564C>T (p.Pro855Leu)
c.2843C>T (p.Pro948Leu)
c.2636C>T (p.Pro879Leu)
11g.2411660G>CCA379132441TRPM5c.2582C>G (p.Pro861Arg)
c.2564C>G (p.Pro855Arg)
c.2843C>G (p.Pro948Arg)
c.2636C>G (p.Pro879Arg)
11g.2411660G>TCA379132442TRPM5c.2582C>A (p.Pro861His)
c.2564C>A (p.Pro855His)
c.2843C>A (p.Pro948His)
c.2636C>A (p.Pro879His)
11g.2411661G>ACA379132443TRPM5c.2581C>T (p.Pro861Ser)
c.2563C>T (p.Pro855Ser)
c.2842C>T (p.Pro948Ser)
c.2635C>T (p.Pro879Ser)
11g.2411661G>CCA379132444TRPM5c.2581C>G (p.Pro861Ala)
c.2563C>G (p.Pro855Ala)
c.2842C>G (p.Pro948Ala)
c.2635C>G (p.Pro879Ala)
11g.2411661G>TCA379132445TRPM5c.2581C>A (p.Pro861Thr)
c.2563C>A (p.Pro855Thr)
c.2842C>A (p.Pro948Thr)
c.2635C>A (p.Pro879Thr)
11g.2411662G>ACA5821015TRPM5c.2580C>T (p.Gly860=)
c.2562C>T (p.Gly854=)
c.2841C>T (p.Gly947=)
c.2634C>T (p.Gly878=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2411662G>CCA472415399TRPM5c.2580C>G (p.Gly860=)
c.2562C>G (p.Gly854=)
c.2841C>G (p.Gly947=)
c.2634C>G (p.Gly878=)
 COSMIC
11g.2411662G=CA1948131518TRPM5c.2580C= (p.Gly860=)
c.2562C= (p.Gly854=)
c.2841C= (p.Gly947=)
c.2634C= (p.Gly878=)
11g.2411662G>TCA5821016TRPM5c.2580C>A (p.Gly860=)
c.2562C>A (p.Gly854=)
c.2841C>A (p.Gly947=)
c.2634C>A (p.Gly878=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2411663C>ACA379132446TRPM5c.2579G>T (p.Gly860Val)
c.2561G>T (p.Gly854Val)
c.2840G>T (p.Gly947Val)
c.2633G>T (p.Gly878Val)
 dbSNP
11g.2411663C>GCA379132447TRPM5c.2579G>C (p.Gly860Ala)
c.2561G>C (p.Gly854Ala)
c.2840G>C (p.Gly947Ala)
c.2633G>C (p.Gly878Ala)
11g.2411663C>TCA379132448TRPM5c.2579G>A (p.Gly860Asp)
c.2561G>A (p.Gly854Asp)
c.2840G>A (p.Gly947Asp)
c.2633G>A (p.Gly878Asp)
11g.2411664C>ACA379132449TRPM5c.2578G>T (p.Gly860Cys)
c.2560G>T (p.Gly854Cys)
c.2839G>T (p.Gly947Cys)
c.2632G>T (p.Gly878Cys)
11g.2411664C>GCA379132450TRPM5c.2578G>C (p.Gly860Arg)
c.2560G>C (p.Gly854Arg)
c.2839G>C (p.Gly947Arg)
c.2632G>C (p.Gly878Arg)
11g.2411664C>TCA379132451TRPM5c.2578G>A (p.Gly860Ser)
c.2560G>A (p.Gly854Ser)
c.2839G>A (p.Gly947Ser)
c.2632G>A (p.Gly878Ser)
11g.2411665C>ACA472415400TRPM5c.2577G>T (p.Leu859=)
c.2559G>T (p.Leu853=)
c.2838G>T (p.Leu946=)
c.2631G>T (p.Leu877=)
11g.2411665C>GCA472415401TRPM5c.2577G>C (p.Leu859=)
c.2559G>C (p.Leu853=)
c.2838G>C (p.Leu946=)
c.2631G>C (p.Leu877=)
11g.2411665C>TCA472415402TRPM5c.2577G>A (p.Leu859=)
c.2559G>A (p.Leu853=)
c.2838G>A (p.Leu946=)
c.2631G>A (p.Leu877=)
 gnomAD v4
11g.2411666A>CCA379132452TRPM5c.2576T>G (p.Leu859Arg)
c.2558T>G (p.Leu853Arg)
c.2837T>G (p.Leu946Arg)
c.2630T>G (p.Leu877Arg)
11g.2411666A>GCA379132453TRPM5c.2576T>C (p.Leu859Pro)
c.2558T>C (p.Leu853Pro)
c.2837T>C (p.Leu946Pro)
c.2630T>C (p.Leu877Pro)
11g.2411666A>TCA379132454TRPM5c.2576T>A (p.Leu859Gln)
c.2558T>A (p.Leu853Gln)
c.2837T>A (p.Leu946Gln)
c.2630T>A (p.Leu877Gln)
11g.2411667G>ACA472415403TRPM5c.2575C>T (p.Leu859=)
c.2557C>T (p.Leu853=)
c.2836C>T (p.Leu946=)
c.2629C>T (p.Leu877=)
 gnomAD v4
11g.2411667G>CCA379132455TRPM5c.2575C>G (p.Leu859Val)
c.2557C>G (p.Leu853Val)
c.2836C>G (p.Leu946Val)
c.2629C>G (p.Leu877Val)
11g.2411667G>TCA379132456TRPM5c.2575C>A (p.Leu859Met)
c.2557C>A (p.Leu853Met)
c.2836C>A (p.Leu946Met)
c.2629C>A (p.Leu877Met)
11g.2411668C>ACA379132457TRPM5c.2574G>T (p.Gln858His)
c.2556G>T (p.Gln852His)
c.2835G>T (p.Gln945His)
c.2628G>T (p.Gln876His)
11g.2411668C>GCA379132458TRPM5c.2574G>C (p.Gln858His)
c.2556G>C (p.Gln852His)
c.2835G>C (p.Gln945His)
c.2628G>C (p.Gln876His)
11g.2411668C>TCA472415404TRPM5c.2574G>A (p.Gln858=)
c.2556G>A (p.Gln852=)
c.2835G>A (p.Gln945=)
c.2628G>A (p.Gln876=)
11g.2411669T>ACA379132460TRPM5c.2573A>T (p.Gln858Leu)
c.2555A>T (p.Gln852Leu)
c.2834A>T (p.Gln945Leu)
c.2627A>T (p.Gln876Leu)
 gnomAD v4
11g.2411669T>CCA379132461TRPM5c.2573A>G (p.Gln858Arg)
c.2555A>G (p.Gln852Arg)
c.2834A>G (p.Gln945Arg)
c.2627A>G (p.Gln876Arg)
11g.2411669T>GCA379132459TRPM5c.2573A>C (p.Gln858Pro)
c.2555A>C (p.Gln852Pro)
c.2834A>C (p.Gln945Pro)
c.2627A>C (p.Gln876Pro)
11g.2411670G>ACA379132462TRPM5c.2572C>T (p.Gln858Ter)
c.2554C>T (p.Gln852Ter)
c.2833C>T (p.Gln945Ter)
c.2626C>T (p.Gln876Ter)
 dbSNP gnomAD v3 gnomAD v4
11g.2411670G>CCA379132463TRPM5c.2572C>G (p.Gln858Glu)
c.2554C>G (p.Gln852Glu)
c.2833C>G (p.Gln945Glu)
c.2626C>G (p.Gln876Glu)
11g.2411670G=CA1948131522TRPM5c.2572C= (p.Gln858=)
c.2554C= (p.Gln852=)
c.2833C= (p.Gln945=)
c.2626C= (p.Gln876=)
11g.2411670G>TCA379132464TRPM5c.2572C>A (p.Gln858Lys)
c.2554C>A (p.Gln852Lys)
c.2833C>A (p.Gln945Lys)
c.2626C>A (p.Gln876Lys)
11g.2411671C>ACA379132465TRPM5c.2571G>T (p.Lys857Asn)
c.2553G>T (p.Lys851Asn)
c.2832G>T (p.Lys944Asn)
c.2625G>T (p.Lys875Asn)
11g.2411671C=CA1948131525TRPM5c.2571G= (p.Lys857=)
c.2553G= (p.Lys851=)
c.2832G= (p.Lys944=)
c.2625G= (p.Lys875=)
11g.2411671C>GCA379132466TRPM5c.2571G>C (p.Lys857Asn)
c.2553G>C (p.Lys851Asn)
c.2832G>C (p.Lys944Asn)
c.2625G>C (p.Lys875Asn)
11g.2411671C>TCA472415405TRPM5c.2571G>A (p.Lys857=)
c.2553G>A (p.Lys851=)
c.2832G>A (p.Lys944=)
c.2625G>A (p.Lys875=)
 dbSNP gnomAD v2 gnomAD v4
11g.2411672T>ACA379132469TRPM5c.2570A>T (p.Lys857Met)
c.2552A>T (p.Lys851Met)
c.2831A>T (p.Lys944Met)
c.2624A>T (p.Lys875Met)
11g.2411672T>CCA379132467TRPM5c.2570A>G (p.Lys857Arg)
c.2552A>G (p.Lys851Arg)
c.2831A>G (p.Lys944Arg)
c.2624A>G (p.Lys875Arg)
11g.2411672T>GCA379132468TRPM5c.2570A>C (p.Lys857Thr)
c.2552A>C (p.Lys851Thr)
c.2831A>C (p.Lys944Thr)
c.2624A>C (p.Lys875Thr)
11g.2411673T>ACA379132470TRPM5c.2569A>T (p.Lys857Ter)
c.2551A>T (p.Lys851Ter)
c.2830A>T (p.Lys944Ter)
c.2623A>T (p.Lys875Ter)
11g.2411673T>CCA379132471TRPM5c.2569A>G (p.Lys857Glu)
c.2551A>G (p.Lys851Glu)
c.2830A>G (p.Lys944Glu)
c.2623A>G (p.Lys875Glu)
11g.2411673T>GCA379132472TRPM5c.2569A>C (p.Lys857Gln)
c.2551A>C (p.Lys851Gln)
c.2830A>C (p.Lys944Gln)
c.2623A>C (p.Lys875Gln)
11g.2411674G>ACA472415406TRPM5c.2568C>T (p.His856=)
c.2550C>T (p.His850=)
c.2829C>T (p.His943=)
c.2622C>T (p.His874=)
11g.2411674G>CCA379132473TRPM5c.2568C>G (p.His856Gln)
c.2550C>G (p.His850Gln)
c.2829C>G (p.His943Gln)
c.2622C>G (p.His874Gln)
11g.2411674G>TCA379132474TRPM5c.2568C>A (p.His856Gln)
c.2550C>A (p.His850Gln)
c.2829C>A (p.His943Gln)
c.2622C>A (p.His874Gln)
11g.2411675T>ACA379132475TRPM5c.2567A>T (p.His856Leu)
c.2549A>T (p.His850Leu)
c.2828A>T (p.His943Leu)
c.2621A>T (p.His874Leu)
11g.2411675T>CCA379132477TRPM5c.2567A>G (p.His856Arg)
c.2549A>G (p.His850Arg)
c.2828A>G (p.His943Arg)
c.2621A>G (p.His874Arg)
11g.2411675T>GCA379132476TRPM5c.2567A>C (p.His856Pro)
c.2549A>C (p.His850Pro)
c.2828A>C (p.His943Pro)
c.2621A>C (p.His874Pro)
 gnomAD v4
11g.2411676G>ACA379132478TRPM5c.2566C>T (p.His856Tyr)
c.2548C>T (p.His850Tyr)
c.2827C>T (p.His943Tyr)
c.2620C>T (p.His874Tyr)
11g.2411676G>CCA379132480TRPM5c.2566C>G (p.His856Asp)
c.2548C>G (p.His850Asp)
c.2827C>G (p.His943Asp)
c.2620C>G (p.His874Asp)
 dbSNP gnomAD v4
11g.2411676G=CA1948131527TRPM5c.2566C= (p.His856=)
c.2548C= (p.His850=)
c.2827C= (p.His943=)
c.2620C= (p.His874=)
11g.2411676G>TCA379132479TRPM5c.2566C>A (p.His856Asn)
c.2548C>A (p.His850Asn)
c.2827C>A (p.His943Asn)
c.2620C>A (p.His874Asn)
11g.2411677T>ACA472415407TRPM5c.2565A>T (p.Ile855=)
c.2547A>T (p.Ile849=)
c.2826A>T (p.Ile942=)
c.2619A>T (p.Ile873=)
11g.2411677T>CCA379132481TRPM5c.2565A>G (p.Ile855Met)
c.2547A>G (p.Ile849Met)
c.2826A>G (p.Ile942Met)
c.2619A>G (p.Ile873Met)
11g.2411677T>GCA472415408TRPM5c.2565A>C (p.Ile855=)
c.2547A>C (p.Ile849=)
c.2826A>C (p.Ile942=)
c.2619A>C (p.Ile873=)
11g.2411678A=CA1948131529TRPM5c.2564T= (p.Ile855=)
c.2546T= (p.Ile849=)
c.2825T= (p.Ile942=)
c.2618T= (p.Ile873=)
11g.2411678A>CCA379132482TRPM5c.2564T>G (p.Ile855Arg)
c.2546T>G (p.Ile849Arg)
c.2825T>G (p.Ile942Arg)
c.2618T>G (p.Ile873Arg)
11g.2411678A>GCA379132483TRPM5c.2564T>C (p.Ile855Thr)
c.2546T>C (p.Ile849Thr)
c.2825T>C (p.Ile942Thr)
c.2618T>C (p.Ile873Thr)
 gnomAD v4
11g.2411678A>TCA379132484TRPM5c.2564T>A (p.Ile855Lys)
c.2546T>A (p.Ile849Lys)
c.2825T>A (p.Ile942Lys)
c.2618T>A (p.Ile873Lys)
 dbSNP gnomAD v2 COSMIC
11g.2411679T>ACA379132485TRPM5c.2563A>T (p.Ile855Leu)
c.2545A>T (p.Ile849Leu)
c.2824A>T (p.Ile942Leu)
c.2617A>T (p.Ile873Leu)
11g.2411679T>CCA379132486TRPM5c.2563A>G (p.Ile855Val)
c.2545A>G (p.Ile849Val)
c.2824A>G (p.Ile942Val)
c.2617A>G (p.Ile873Val)
 dbSNP gnomAD v4
11g.2411679T>GCA379132487TRPM5c.2563A>C (p.Ile855Leu)
c.2545A>C (p.Ile849Leu)
c.2824A>C (p.Ile942Leu)
c.2617A>C (p.Ile873Leu)
11g.2411679T=CA1948131532TRPM5c.2563A= (p.Ile855=)
c.2545A= (p.Ile849=)
c.2824A= (p.Ile942=)
c.2617A= (p.Ile873=)
11g.2411680G>ACA472415409TRPM5c.2562C>T (p.Ala854=)
c.2544C>T (p.Ala848=)
c.2823C>T (p.Ala941=)
c.2616C>T (p.Ala872=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.2411680G>CCA472415411TRPM5c.2562C>G (p.Ala854=)
c.2544C>G (p.Ala848=)
c.2823C>G (p.Ala941=)
c.2616C>G (p.Ala872=)
11g.2411680G=CA1948131534TRPM5c.2562C= (p.Ala854=)
c.2544C= (p.Ala848=)
c.2823C= (p.Ala941=)
c.2616C= (p.Ala872=)
11g.2411680G>TCA472415410TRPM5c.2562C>A (p.Ala854=)
c.2544C>A (p.Ala848=)
c.2823C>A (p.Ala941=)
c.2616C>A (p.Ala872=)
 gnomAD v4
11g.2411681G>ACA379132488TRPM5c.2561C>T (p.Ala854Val)
c.2543C>T (p.Ala848Val)
c.2822C>T (p.Ala941Val)
c.2615C>T (p.Ala872Val)
11g.2411681G>CCA379132489TRPM5c.2561C>G (p.Ala854Gly)
c.2543C>G (p.Ala848Gly)
c.2822C>G (p.Ala941Gly)
c.2615C>G (p.Ala872Gly)
11g.2411681G>TCA379132490TRPM5c.2561C>A (p.Ala854Asp)
c.2543C>A (p.Ala848Asp)
c.2822C>A (p.Ala941Asp)
c.2615C>A (p.Ala872Asp)
11g.2411682C>ACA379132491TRPM5c.2560G>T (p.Ala854Ser)
c.2542G>T (p.Ala848Ser)
c.2821G>T (p.Ala941Ser)
c.2614G>T (p.Ala872Ser)
11g.2411682C>GCA379132492TRPM5c.2560G>C (p.Ala854Pro)
c.2542G>C (p.Ala848Pro)
c.2821G>C (p.Ala941Pro)
c.2614G>C (p.Ala872Pro)
11g.2411682C>TCA379132493TRPM5c.2560G>A (p.Ala854Thr)
c.2542G>A (p.Ala848Thr)
c.2821G>A (p.Ala941Thr)
c.2614G>A (p.Ala872Thr)
11g.2411682_2411683delinsCACA1948131535TRPM5c.2559_2560delinsTG (p.Phe853=)
c.2541_2542delinsTG (p.Phe847=)
c.2820_2821delinsTG (p.Phe940=)
c.2613_2614delinsTG (p.Phe871=)
11g.2411683A>CCA379132494TRPM5c.2559T>G (p.Phe853Leu)
c.2541T>G (p.Phe847Leu)
c.2820T>G (p.Phe940Leu)
c.2613T>G (p.Phe871Leu)
11g.2411683A>GCA472415412TRPM5c.2559T>C (p.Phe853=)
c.2541T>C (p.Phe847=)
c.2820T>C (p.Phe940=)
c.2613T>C (p.Phe871=)
11g.2411683A>TCA379132495TRPM5c.2559T>A (p.Phe853Leu)
c.2541T>A (p.Phe847Leu)
c.2820T>A (p.Phe940Leu)
c.2613T>A (p.Phe871Leu)
11g.2411685delCA1948131537TRPM5c.2559del (p.Phe853LeufsTer14)
c.2541del (p.Phe847LeufsTer14)
c.2820del (p.Phe940LeufsTer14)
c.2613del (p.Phe871LeufsTer14)
 dbSNP
11g.2411684A>CCA379132496TRPM5c.2558T>G (p.Phe853Cys)
c.2540T>G (p.Phe847Cys)
c.2819T>G (p.Phe940Cys)
c.2612T>G (p.Phe871Cys)
11g.2411684A>GCA379132497TRPM5c.2558T>C (p.Phe853Ser)
c.2540T>C (p.Phe847Ser)
c.2819T>C (p.Phe940Ser)
c.2612T>C (p.Phe871Ser)
11g.2411684A>TCA379132498TRPM5c.2558T>A (p.Phe853Tyr)
c.2540T>A (p.Phe847Tyr)
c.2819T>A (p.Phe940Tyr)
c.2612T>A (p.Phe871Tyr)
11g.2411685A>CCA379132499TRPM5c.2557T>G (p.Phe853Val)
c.2539T>G (p.Phe847Val)
c.2818T>G (p.Phe940Val)
c.2611T>G (p.Phe871Val)
11g.2411685A>GCA379132500TRPM5c.2557T>C (p.Phe853Leu)
c.2539T>C (p.Phe847Leu)
c.2818T>C (p.Phe940Leu)
c.2611T>C (p.Phe871Leu)
11g.2411685A>TCA379132501TRPM5c.2557T>A (p.Phe853Ile)
c.2539T>A (p.Phe847Ile)
c.2818T>A (p.Phe940Ile)
c.2611T>A (p.Phe871Ile)
11g.2411686G>ACA472415413TRPM5c.2556C>T (p.Ile852=)
c.2538C>T (p.Ile846=)
c.2817C>T (p.Ile939=)
c.2610C>T (p.Ile870=)
 dbSNP
11g.2411686G>CCA379132502TRPM5c.2556C>G (p.Ile852Met)
c.2538C>G (p.Ile846Met)
c.2817C>G (p.Ile939Met)
c.2610C>G (p.Ile870Met)
11g.2411686G>TCA472415414TRPM5c.2556C>A (p.Ile852=)
c.2538C>A (p.Ile846=)
c.2817C>A (p.Ile939=)
c.2610C>A (p.Ile870=)
11g.2411687A>CCA379132503TRPM5c.2555T>G (p.Ile852Ser)
c.2537T>G (p.Ile846Ser)
c.2816T>G (p.Ile939Ser)
c.2609T>G (p.Ile870Ser)
11g.2411687A>GCA379132504TRPM5c.2555T>C (p.Ile852Thr)
c.2537T>C (p.Ile846Thr)
c.2816T>C (p.Ile939Thr)
c.2609T>C (p.Ile870Thr)
11g.2411687A>TCA379132505TRPM5c.2555T>A (p.Ile852Asn)
c.2537T>A (p.Ile846Asn)
c.2816T>A (p.Ile939Asn)
c.2609T>A (p.Ile870Asn)
11g.2411689_2411690delCA2611994985TRPM5c.2554_2555del (p.Ile852LeufsTer?)
c.2536_2537del (p.Ile846LeufsTer?)
c.2815_2816del (p.Ile939LeufsTer?)
c.2608_2609del (p.Ile870LeufsTer?)
 gnomAD v4
11g.2411688T>ACA379132507TRPM5c.2554A>T (p.Ile852Phe)
c.2536A>T (p.Ile846Phe)
c.2815A>T (p.Ile939Phe)
c.2608A>T (p.Ile870Phe)
11g.2411688T>CCA5821017TRPM5c.2554A>G (p.Ile852Val)
c.2536A>G (p.Ile846Val)
c.2815A>G (p.Ile939Val)
c.2608A>G (p.Ile870Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2411688T>GCA379132506TRPM5c.2554A>C (p.Ile852Leu)
c.2536A>C (p.Ile846Leu)
c.2815A>C (p.Ile939Leu)
c.2608A>C (p.Ile870Leu)
11g.2411688T=CA1948131539TRPM5c.2554A= (p.Ile852=)
c.2536A= (p.Ile846=)
c.2815A= (p.Ile939=)
c.2608A= (p.Ile870=)
11g.2411689A>CCA379132508TRPM5c.2553T>G (p.His851Gln)
c.2535T>G (p.His845Gln)
c.2814T>G (p.His938Gln)
c.2607T>G (p.His869Gln)
11g.2411689A>GCA472415415TRPM5c.2553T>C (p.His851=)
c.2535T>C (p.His845=)
c.2814T>C (p.His938=)
c.2607T>C (p.His869=)
 gnomAD v4
11g.2411689A>TCA379132509TRPM5c.2553T>A (p.His851Gln)
c.2535T>A (p.His845Gln)
c.2814T>A (p.His938Gln)
c.2607T>A (p.His869Gln)
11g.2411690T>ACA379132510TRPM5c.2552A>T (p.His851Leu)
c.2534A>T (p.His845Leu)
c.2813A>T (p.His938Leu)
c.2606A>T (p.His869Leu)
11g.2411690T>CCA379132511TRPM5c.2552A>G (p.His851Arg)
c.2534A>G (p.His845Arg)
c.2813A>G (p.His938Arg)
c.2606A>G (p.His869Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.2411690T>GCA379132512TRPM5c.2552A>C (p.His851Pro)
c.2534A>C (p.His845Pro)
c.2813A>C (p.His938Pro)
c.2606A>C (p.His869Pro)
 dbSNP
11g.2411690T=CA1948131542TRPM5c.2552A= (p.His851=)
c.2534A= (p.His845=)
c.2813A= (p.His938=)
c.2606A= (p.His869=)
11g.2411691G>ACA216322540TRPM5c.2551C>T (p.His851Tyr)
c.2533C>T (p.His845Tyr)
c.2812C>T (p.His938Tyr)
c.2605C>T (p.His869Tyr)
 dbSNP
11g.2411691G>CCA379132513TRPM5c.2551C>G (p.His851Asp)
c.2533C>G (p.His845Asp)
c.2812C>G (p.His938Asp)
c.2605C>G (p.His869Asp)
11g.2411691G=CA1948131544TRPM5c.2551C= (p.His851=)
c.2533C= (p.His845=)
c.2812C= (p.His938=)
c.2605C= (p.His869=)
11g.2411691G>TCA379132514TRPM5c.2551C>A (p.His851Asn)
c.2533C>A (p.His845Asn)
c.2812C>A (p.His938Asn)
c.2605C>A (p.His869Asn)
11g.2411692G>ACA472415416TRPM5c.2550C>T (p.Ile850=)
c.2532C>T (p.Ile844=)
c.2811C>T (p.Ile937=)
c.2604C>T (p.Ile868=)
 COSMIC
11g.2411692G>CCA379132515TRPM5c.2550C>G (p.Ile850Met)
c.2532C>G (p.Ile844Met)
c.2811C>G (p.Ile937Met)
c.2604C>G (p.Ile868Met)
11g.2411692G=CA1948131549TRPM5c.2550C= (p.Ile850=)
c.2532C= (p.Ile844=)
c.2811C= (p.Ile937=)
c.2604C= (p.Ile868=)
11g.2411692G>TCA216322555TRPM5c.2550C>A (p.Ile850=)
c.2532C>A (p.Ile844=)
c.2811C>A (p.Ile937=)
c.2604C>A (p.Ile868=)
 dbSNP gnomAD v3 gnomAD v4
11g.2411693A>CCA379132516TRPM5c.2549T>G (p.Ile850Ser)
c.2531T>G (p.Ile844Ser)
c.2810T>G (p.Ile937Ser)
c.2603T>G (p.Ile868Ser)
11g.2411693A>GCA379132517TRPM5c.2549T>C (p.Ile850Thr)
c.2531T>C (p.Ile844Thr)
c.2810T>C (p.Ile937Thr)
c.2603T>C (p.Ile868Thr)
11g.2411693A>TCA379132518TRPM5c.2549T>A (p.Ile850Asn)
c.2531T>A (p.Ile844Asn)
c.2810T>A (p.Ile937Asn)
c.2603T>A (p.Ile868Asn)
11g.2411694T>ACA379132521TRPM5c.2548A>T (p.Ile850Phe)
c.2530A>T (p.Ile844Phe)
c.2809A>T (p.Ile937Phe)
c.2602A>T (p.Ile868Phe)
11g.2411694T>CCA379132520TRPM5c.2548A>G (p.Ile850Val)
c.2530A>G (p.Ile844Val)
c.2809A>G (p.Ile937Val)
c.2602A>G (p.Ile868Val)
 dbSNP gnomAD v3 gnomAD v4
11g.2411694T>GCA379132519TRPM5c.2548A>C (p.Ile850Leu)
c.2530A>C (p.Ile844Leu)
c.2809A>C (p.Ile937Leu)
c.2602A>C (p.Ile868Leu)
11g.2411694T=CA1948131555TRPM5c.2548A= (p.Ile850=)
c.2530A= (p.Ile844=)
c.2809A= (p.Ile937=)
c.2602A= (p.Ile868=)
11g.2411695C>ACA472415417TRPM5c.2547G>T (p.Leu849=)
c.2529G>T (p.Leu843=)
c.2808G>T (p.Leu936=)
c.2601G>T (p.Leu867=)
11g.2411695C>GCA472415418TRPM5c.2547G>C (p.Leu849=)
c.2529G>C (p.Leu843=)
c.2808G>C (p.Leu936=)
c.2601G>C (p.Leu867=)
11g.2411695C>TCA472415419TRPM5c.2547G>A (p.Leu849=)
c.2529G>A (p.Leu843=)
c.2808G>A (p.Leu936=)
c.2601G>A (p.Leu867=)
11g.2411696A>CCA379132522TRPM5c.2546T>G (p.Leu849Arg)
c.2528T>G (p.Leu843Arg)
c.2807T>G (p.Leu936Arg)
c.2600T>G (p.Leu867Arg)
11g.2411696A>GCA379132523TRPM5c.2546T>C (p.Leu849Pro)
c.2528T>C (p.Leu843Pro)
c.2807T>C (p.Leu936Pro)
c.2600T>C (p.Leu867Pro)
 gnomAD v4
11g.2411696A>TCA379132524TRPM5c.2546T>A (p.Leu849Gln)
c.2528T>A (p.Leu843Gln)
c.2807T>A (p.Leu936Gln)
c.2600T>A (p.Leu867Gln)
11g.2411697G>ACA472415420TRPM5c.2545C>T (p.Leu849=)
c.2527C>T (p.Leu843=)
c.2806C>T (p.Leu936=)
c.2599C>T (p.Leu867=)
11g.2411697G>CCA379132525TRPM5c.2545C>G (p.Leu849Val)
c.2527C>G (p.Leu843Val)
c.2806C>G (p.Leu936Val)
c.2599C>G (p.Leu867Val)
11g.2411697G>TCA379132526TRPM5c.2545C>A (p.Leu849Met)
c.2527C>A (p.Leu843Met)
c.2806C>A (p.Leu936Met)
c.2599C>A (p.Leu867Met)
11g.2411698C>ACA472415421TRPM5c.2544G>T (p.Arg848=)
c.2526G>T (p.Arg842=)
c.2805G>T (p.Arg935=)
c.2598G>T (p.Arg866=)
11g.2411698C>GCA472415422TRPM5c.2544G>C (p.Arg848=)
c.2526G>C (p.Arg842=)
c.2805G>C (p.Arg935=)
c.2598G>C (p.Arg866=)
11g.2411698C>TCA472415423TRPM5c.2544G>A (p.Arg848=)
c.2526G>A (p.Arg842=)
c.2805G>A (p.Arg935=)
c.2598G>A (p.Arg866=)
11g.2411699C>ACA379132527TRPM5c.2543G>T (p.Arg848Leu)
c.2525G>T (p.Arg842Leu)
c.2804G>T (p.Arg935Leu)
c.2597G>T (p.Arg866Leu)
11g.2411699C=CA1948131558TRPM5c.2543G= (p.Arg848=)
c.2525G= (p.Arg842=)
c.2804G= (p.Arg935=)
c.2597G= (p.Arg866=)
11g.2411699C>GCA379132528TRPM5c.2543G>C (p.Arg848Pro)
c.2525G>C (p.Arg842Pro)
c.2804G>C (p.Arg935Pro)
c.2597G>C (p.Arg866Pro)
11g.2411699C>TCA5821018TRPM5c.2543G>A (p.Arg848Gln)
c.2525G>A (p.Arg842Gln)
c.2804G>A (p.Arg935Gln)
c.2597G>A (p.Arg866Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.2411700G>ACA5821019TRPM5c.2542C>T (p.Arg848Trp)
c.2524C>T (p.Arg842Trp)
c.2803C>T (p.Arg935Trp)
c.2596C>T (p.Arg866Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.2411700G>CCA379132529TRPM5c.2542C>G (p.Arg848Gly)
c.2524C>G (p.Arg842Gly)
c.2803C>G (p.Arg935Gly)
c.2596C>G (p.Arg866Gly)
11g.2411700G=CA1948131559TRPM5c.2542C= (p.Arg848=)
c.2524C= (p.Arg842=)
c.2803C= (p.Arg935=)
c.2596C= (p.Arg866=)
11g.2411700G>TCA472415424TRPM5c.2542C>A (p.Arg848=)
c.2524C>A (p.Arg842=)
c.2803C>A (p.Arg935=)
c.2596C>A (p.Arg866=)
11g.2411701C>ACA472415425TRPM5c.2541G>T (p.Leu847=)
c.2523G>T (p.Leu841=)
c.2802G>T (p.Leu934=)
c.2595G>T (p.Leu865=)
11g.2411701C>GCA472415426TRPM5c.2541G>C (p.Leu847=)
c.2523G>C (p.Leu841=)
c.2802G>C (p.Leu934=)
c.2595G>C (p.Leu865=)
11g.2411701C>TCA472415427TRPM5c.2541G>A (p.Leu847=)
c.2523G>A (p.Leu841=)
c.2802G>A (p.Leu934=)
c.2595G>A (p.Leu865=)
 gnomAD v4
11g.2411702A=CA1948131561TRPM5c.2540T= (p.Leu847=)
c.2522T= (p.Leu841=)
c.2801T= (p.Leu934=)
c.2594T= (p.Leu865=)
11g.2411702A>CCA379132530TRPM5c.2540T>G (p.Leu847Arg)
c.2522T>G (p.Leu841Arg)
c.2801T>G (p.Leu934Arg)
c.2594T>G (p.Leu865Arg)
11g.2411702A>GCA379132531TRPM5c.2540T>C (p.Leu847Pro)
c.2522T>C (p.Leu841Pro)
c.2801T>C (p.Leu934Pro)
c.2594T>C (p.Leu865Pro)
 dbSNP gnomAD v2 gnomAD v4
11g.2411702A>TCA379132532TRPM5c.2540T>A (p.Leu847Gln)
c.2522T>A (p.Leu841Gln)
c.2801T>A (p.Leu934Gln)
c.2594T>A (p.Leu865Gln)
11g.2411703G>ACA472415428TRPM5c.2539C>T (p.Leu847=)
c.2521C>T (p.Leu841=)
c.2800C>T (p.Leu934=)
c.2593C>T (p.Leu865=)
11g.2411703G>CCA379132533TRPM5c.2539C>G (p.Leu847Val)
c.2521C>G (p.Leu841Val)
c.2800C>G (p.Leu934Val)
c.2593C>G (p.Leu865Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2411703G=CA1948131563TRPM5c.2539C= (p.Leu847=)
c.2521C= (p.Leu841=)
c.2800C= (p.Leu934=)
c.2593C= (p.Leu865=)
11g.2411703G>TCA379132534TRPM5c.2539C>A (p.Leu847Met)
c.2521C>A (p.Leu841Met)
c.2800C>A (p.Leu934Met)
c.2593C>A (p.Leu865Met)
11g.2411704C>ACA472415429TRPM5c.2538G>T (p.Thr846=)
c.2520G>T (p.Thr840=)
c.2799G>T (p.Thr933=)
c.2592G>T (p.Thr864=)
11g.2411704C=CA1948131567TRPM5c.2538G= (p.Thr846=)
c.2520G= (p.Thr840=)
c.2799G= (p.Thr933=)
c.2592G= (p.Thr864=)
11g.2411704C>GCA472415431TRPM5c.2538G>C (p.Thr846=)
c.2520G>C (p.Thr840=)
c.2799G>C (p.Thr933=)
c.2592G>C (p.Thr864=)
11g.2411704C>TCA472415430TRPM5c.2538G>A (p.Thr846=)
c.2520G>A (p.Thr840=)
c.2799G>A (p.Thr933=)
c.2592G>A (p.Thr864=)
 dbSNP gnomAD v2 gnomAD v4
11g.2411705G>ACA5821020TRPM5c.2537C>T (p.Thr846Met)
c.2519C>T (p.Thr840Met)
c.2798C>T (p.Thr933Met)
c.2591C>T (p.Thr864Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2411705G>CCA379132536TRPM5c.2537C>G (p.Thr846Arg)
c.2519C>G (p.Thr840Arg)
c.2798C>G (p.Thr933Arg)
c.2591C>G (p.Thr864Arg)
11g.2411705G=CA1948131569TRPM5c.2537C= (p.Thr846=)
c.2519C= (p.Thr840=)
c.2798C= (p.Thr933=)
c.2591C= (p.Thr864=)
11g.2411705G>TCA379132535TRPM5c.2537C>A (p.Thr846Lys)
c.2519C>A (p.Thr840Lys)
c.2798C>A (p.Thr933Lys)
c.2591C>A (p.Thr864Lys)
11g.2411706T>ACA379132537TRPM5c.2536A>T (p.Thr846Ser)
c.2518A>T (p.Thr840Ser)
c.2797A>T (p.Thr933Ser)
c.2590A>T (p.Thr864Ser)
11g.2411706T>CCA379132538TRPM5c.2536A>G (p.Thr846Ala)
c.2518A>G (p.Thr840Ala)
c.2797A>G (p.Thr933Ala)
c.2590A>G (p.Thr864Ala)
11g.2411706T>GCA379132539TRPM5c.2536A>C (p.Thr846Pro)
c.2518A>C (p.Thr840Pro)
c.2797A>C (p.Thr933Pro)
c.2590A>C (p.Thr864Pro)
11g.2411707G>ACA472415432TRPM5c.2535C>T (p.Phe845=)
c.2517C>T (p.Phe839=)
c.2796C>T (p.Phe932=)
c.2589C>T (p.Phe863=)
11g.2411707G>CCA379132540TRPM5c.2535C>G (p.Phe845Leu)
c.2517C>G (p.Phe839Leu)
c.2796C>G (p.Phe932Leu)
c.2589C>G (p.Phe863Leu)
11g.2411707G>TCA379132541TRPM5c.2535C>A (p.Phe845Leu)
c.2517C>A (p.Phe839Leu)
c.2796C>A (p.Phe932Leu)
c.2589C>A (p.Phe863Leu)
11g.2411708A=CA1948131682TRPM5c.2534T= (p.Phe845=)
c.2516T= (p.Phe839=)
c.2795T= (p.Phe932=)
c.2588T= (p.Phe863=)
11g.2411708A>CCA379132542TRPM5c.2534T>G (p.Phe845Cys)
c.2516T>G (p.Phe839Cys)
c.2795T>G (p.Phe932Cys)
c.2588T>G (p.Phe863Cys)
11g.2411708A>GCA379132543TRPM5c.2534T>C (p.Phe845Ser)
c.2516T>C (p.Phe839Ser)
c.2795T>C (p.Phe932Ser)
c.2588T>C (p.Phe863Ser)
 dbSNP gnomAD v4
11g.2411708A>TCA379132544TRPM5c.2534T>A (p.Phe845Tyr)
c.2516T>A (p.Phe839Tyr)
c.2795T>A (p.Phe932Tyr)
c.2588T>A (p.Phe863Tyr)
11g.2411709A>CCA379132545TRPM5c.2533T>G (p.Phe845Val)
c.2515T>G (p.Phe839Val)
c.2794T>G (p.Phe932Val)
c.2587T>G (p.Phe863Val)
11g.2411709A>GCA379132546TRPM5c.2533T>C (p.Phe845Leu)
c.2515T>C (p.Phe839Leu)
c.2794T>C (p.Phe932Leu)
c.2587T>C (p.Phe863Leu)
11g.2411709A>TCA379132547TRPM5c.2533T>A (p.Phe845Ile)
c.2515T>A (p.Phe839Ile)
c.2794T>A (p.Phe932Ile)
c.2587T>A (p.Phe863Ile)
11g.2411710C>ACA472415433TRPM5c.2532G>T (p.Val844=)
c.2514G>T (p.Val838=)
c.2793G>T (p.Val931=)
c.2586G>T (p.Val862=)
11g.2411710C=CA1948131685TRPM5c.2532G= (p.Val844=)
c.2514G= (p.Val838=)
c.2793G= (p.Val931=)
c.2586G= (p.Val862=)
11g.2411710C>GCA472415434TRPM5c.2532G>C (p.Val844=)
c.2514G>C (p.Val838=)
c.2793G>C (p.Val931=)
c.2586G>C (p.Val862=)
11g.2411710C>TCA472415435TRPM5c.2532G>A (p.Val844=)
c.2514G>A (p.Val838=)
c.2793G>A (p.Val931=)
c.2586G>A (p.Val862=)
 dbSNP gnomAD v2 gnomAD v4
11g.2411711A=CA1948131688TRPM5c.2531T= (p.Val844=)
c.2513T= (p.Val838=)
c.2792T= (p.Val931=)
c.2585T= (p.Val862=)
11g.2411711A>CCA379132550TRPM5c.2531T>G (p.Val844Gly)
c.2513T>G (p.Val838Gly)
c.2792T>G (p.Val931Gly)
c.2585T>G (p.Val862Gly)
11g.2411711A>GCA379132549TRPM5c.2531T>C (p.Val844Ala)
c.2513T>C (p.Val838Ala)
c.2792T>C (p.Val931Ala)
c.2585T>C (p.Val862Ala)
 dbSNP
11g.2411711A>TCA379132548TRPM5c.2531T>A (p.Val844Glu)
c.2513T>A (p.Val838Glu)
c.2792T>A (p.Val931Glu)
c.2585T>A (p.Val862Glu)
11g.2411712C>ACA379132551TRPM5c.2530G>T (p.Val844Leu)
c.2512G>T (p.Val838Leu)
c.2791G>T (p.Val931Leu)
c.2584G>T (p.Val862Leu)
11g.2411712C=CA1948131692TRPM5c.2530G= (p.Val844=)
c.2512G= (p.Val838=)
c.2791G= (p.Val931=)
c.2584G= (p.Val862=)
11g.2411712C>GCA379132552TRPM5c.2530G>C (p.Val844Leu)
c.2512G>C (p.Val838Leu)
c.2791G>C (p.Val931Leu)
c.2584G>C (p.Val862Leu)
11g.2411712C>TCA5821021TRPM5c.2530G>A (p.Val844Met)
c.2512G>A (p.Val838Met)
c.2791G>A (p.Val931Met)
c.2584G>A (p.Val862Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2411713C>ACA379132553TRPM5c.2529G>T (p.Met843Ile)
c.2511G>T (p.Met837Ile)
c.2790G>T (p.Met930Ile)
c.2583G>T (p.Met861Ile)
11g.2411713C>GCA379132554TRPM5c.2529G>C (p.Met843Ile)
c.2511G>C (p.Met837Ile)
c.2790G>C (p.Met930Ile)
c.2583G>C (p.Met861Ile)
11g.2411713C>TCA379132555TRPM5c.2529G>A (p.Met843Ile)
c.2511G>A (p.Met837Ile)
c.2790G>A (p.Met930Ile)
c.2583G>A (p.Met861Ile)
11g.2411714A=CA1948131695TRPM5c.2528T= (p.Met843=)
c.2510T= (p.Met837=)
c.2789T= (p.Met930=)
c.2582T= (p.Met861=)
11g.2411714A>CCA379132556TRPM5c.2528T>G (p.Met843Arg)
c.2510T>G (p.Met837Arg)
c.2789T>G (p.Met930Arg)
c.2582T>G (p.Met861Arg)
 gnomAD v4
11g.2411714A>GCA379132557TRPM5c.2528T>C (p.Met843Thr)
c.2510T>C (p.Met837Thr)
c.2789T>C (p.Met930Thr)
c.2582T>C (p.Met861Thr)
 dbSNP gnomAD v4
11g.2411714A>TCA379132558TRPM5c.2528T>A (p.Met843Lys)
c.2510T>A (p.Met837Lys)
c.2789T>A (p.Met930Lys)
c.2582T>A (p.Met861Lys)
11g.2411715T>ACA379132559TRPM5c.2527A>T (p.Met843Leu)
c.2509A>T (p.Met837Leu)
c.2788A>T (p.Met930Leu)
c.2581A>T (p.Met861Leu)
11g.2411715T>CCA379132560TRPM5c.2527A>G (p.Met843Val)
c.2509A>G (p.Met837Val)
c.2788A>G (p.Met930Val)
c.2581A>G (p.Met861Val)
 dbSNP
11g.2411715T>GCA379132561TRPM5c.2527A>C (p.Met843Leu)
c.2509A>C (p.Met837Leu)
c.2788A>C (p.Met930Leu)
c.2581A>C (p.Met861Leu)
11g.2411715T=CA1948131697TRPM5c.2527A= (p.Met843=)
c.2509A= (p.Met837=)
c.2788A= (p.Met930=)
c.2581A= (p.Met861=)
11g.2411716G>ACA5821022TRPM5c.2526C>T (p.Phe842=)
c.2508C>T (p.Phe836=)
c.2787C>T (p.Phe929=)
c.2580C>T (p.Phe860=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2411716G>CCA379132563TRPM5c.2526C>G (p.Phe842Leu)
c.2508C>G (p.Phe836Leu)
c.2787C>G (p.Phe929Leu)
c.2580C>G (p.Phe860Leu)
11g.2411716G=CA1948131701TRPM5c.2526C= (p.Phe842=)
c.2508C= (p.Phe836=)
c.2787C= (p.Phe929=)
c.2580C= (p.Phe860=)
11g.2411716G>TCA379132562TRPM5c.2526C>A (p.Phe842Leu)
c.2508C>A (p.Phe836Leu)
c.2787C>A (p.Phe929Leu)
c.2580C>A (p.Phe860Leu)
 COSMIC
11g.2411717A>CCA379132566TRPM5c.2525T>G (p.Phe842Cys)
c.2507T>G (p.Phe836Cys)
c.2786T>G (p.Phe929Cys)
c.2579T>G (p.Phe860Cys)
11g.2411717A>GCA379132564TRPM5c.2525T>C (p.Phe842Ser)
c.2507T>C (p.Phe836Ser)
c.2786T>C (p.Phe929Ser)
c.2579T>C (p.Phe860Ser)
11g.2411717A>TCA379132565TRPM5c.2525T>A (p.Phe842Tyr)
c.2507T>A (p.Phe836Tyr)
c.2786T>A (p.Phe929Tyr)
c.2579T>A (p.Phe860Tyr)
11g.2411718A>CCA379132567TRPM5c.2524T>G (p.Phe842Val)
c.2506T>G (p.Phe836Val)
c.2785T>G (p.Phe929Val)
c.2578T>G (p.Phe860Val)
11g.2411718A>GCA379132568TRPM5c.2524T>C (p.Phe842Leu)
c.2506T>C (p.Phe836Leu)
c.2785T>C (p.Phe929Leu)
c.2578T>C (p.Phe860Leu)
11g.2411718A>TCA379132569TRPM5c.2524T>A (p.Phe842Ile)
c.2506T>A (p.Phe836Ile)
c.2785T>A (p.Phe929Ile)
c.2578T>A (p.Phe860Ile)
11g.2411719G>ACA472415436TRPM5c.2523C>T (p.Asp841=)
c.2505C>T (p.Asp835=)
c.2784C>T (p.Asp928=)
c.2577C>T (p.Asp859=)
 gnomAD v4
11g.2411719G>CCA379132570TRPM5c.2523C>G (p.Asp841Glu)
c.2505C>G (p.Asp835Glu)
c.2784C>G (p.Asp928Glu)
c.2577C>G (p.Asp859Glu)
11g.2411719G>TCA379132571TRPM5c.2523C>A (p.Asp841Glu)
c.2505C>A (p.Asp835Glu)
c.2784C>A (p.Asp928Glu)
c.2577C>A (p.Asp859Glu)
11g.2411720T>ACA379132572TRPM5c.2522A>T (p.Asp841Val)
c.2504A>T (p.Asp835Val)
c.2783A>T (p.Asp928Val)
c.2576A>T (p.Asp859Val)
11g.2411720T>CCA379132573TRPM5c.2522A>G (p.Asp841Gly)
c.2504A>G (p.Asp835Gly)
c.2783A>G (p.Asp928Gly)
c.2576A>G (p.Asp859Gly)
11g.2411720T>GCA379132574TRPM5c.2522A>C (p.Asp841Ala)
c.2504A>C (p.Asp835Ala)
c.2783A>C (p.Asp928Ala)
c.2576A>C (p.Asp859Ala)
11g.2411721C>ACA379132575TRPM5c.2521G>T (p.Asp841Tyr)
c.2503G>T (p.Asp835Tyr)
c.2782G>T (p.Asp928Tyr)
c.2575G>T (p.Asp859Tyr)
11g.2411721C>GCA379132576TRPM5c.2521G>C (p.Asp841His)
c.2503G>C (p.Asp835His)
c.2782G>C (p.Asp928His)
c.2575G>C (p.Asp859His)
11g.2411721C>TCA379132577TRPM5c.2521G>A (p.Asp841Asn)
c.2503G>A (p.Asp835Asn)
c.2782G>A (p.Asp928Asn)
c.2575G>A (p.Asp859Asn)
11g.2411722C>ACA379132579TRPM5c.2520G>T (p.Met840Ile)
c.2502G>T (p.Met834Ile)
c.2781G>T (p.Met927Ile)
c.2574G>T (p.Met858Ile)
11g.2411722C=CA1948131705TRPM5c.2520G= (p.Met840=)
c.2502G= (p.Met834=)
c.2781G= (p.Met927=)
c.2574G= (p.Met858=)
11g.2411722C>GCA379132578TRPM5c.2520G>C (p.Met840Ile)
c.2502G>C (p.Met834Ile)
c.2781G>C (p.Met927Ile)
c.2574G>C (p.Met858Ile)
11g.2411722C>TCA5821023TRPM5c.2520G>A (p.Met840Ile)
c.2502G>A (p.Met834Ile)
c.2781G>A (p.Met927Ile)
c.2574G>A (p.Met858Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2411723A=CA1948131707TRPM5c.2519T= (p.Met840=)
c.2501T= (p.Met834=)
c.2780T= (p.Met927=)
c.2573T= (p.Met858=)
11g.2411723A>CCA379132580TRPM5c.2519T>G (p.Met840Arg)
c.2501T>G (p.Met834Arg)
c.2780T>G (p.Met927Arg)
c.2573T>G (p.Met858Arg)
11g.2411723A>GCA379132581TRPM5c.2519T>C (p.Met840Thr)
c.2501T>C (p.Met834Thr)
c.2780T>C (p.Met927Thr)
c.2573T>C (p.Met858Thr)
 dbSNP gnomAD v4
11g.2411723A>TCA379132582TRPM5c.2519T>A (p.Met840Lys)
c.2501T>A (p.Met834Lys)
c.2780T>A (p.Met927Lys)
c.2573T>A (p.Met858Lys)
11g.2411724T>ACA379132583TRPM5c.2518A>T (p.Met840Leu)
c.2500A>T (p.Met834Leu)
c.2779A>T (p.Met927Leu)
c.2572A>T (p.Met858Leu)
11g.2411724T>CCA5821024TRPM5c.2518A>G (p.Met840Val)
c.2500A>G (p.Met834Val)
c.2779A>G (p.Met927Val)
c.2572A>G (p.Met858Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2411724T>GCA379132584TRPM5c.2518A>C (p.Met840Leu)
c.2500A>C (p.Met834Leu)
c.2779A>C (p.Met927Leu)
c.2572A>C (p.Met858Leu)
 dbSNP
11g.2411724T=CA1948131708TRPM5c.2518A= (p.Met840=)
c.2500A= (p.Met834=)
c.2779A= (p.Met927=)
c.2572A= (p.Met858=)
11g.2411725G>ACA472415437TRPM5c.2517C>T (p.Ala839=)
c.2499C>T (p.Ala833=)
c.2778C>T (p.Ala926=)
c.2571C>T (p.Ala857=)
 gnomAD v4
11g.2411725G>CCA472415438TRPM5c.2517C>G (p.Ala839=)
c.2499C>G (p.Ala833=)
c.2778C>G (p.Ala926=)
c.2571C>G (p.Ala857=)
11g.2411725G>TCA472415439TRPM5c.2517C>A (p.Ala839=)
c.2499C>A (p.Ala833=)
c.2778C>A (p.Ala926=)
c.2571C>A (p.Ala857=)
11g.2411726G>ACA379132585TRPM5c.2516C>T (p.Ala839Val)
c.2498C>T (p.Ala833Val)
c.2777C>T (p.Ala926Val)
c.2570C>T (p.Ala857Val)
11g.2411726G>CCA379132586TRPM5c.2516C>G (p.Ala839Gly)
c.2498C>G (p.Ala833Gly)
c.2777C>G (p.Ala926Gly)
c.2570C>G (p.Ala857Gly)
11g.2411726G>TCA379132587TRPM5c.2516C>A (p.Ala839Asp)
c.2498C>A (p.Ala833Asp)
c.2777C>A (p.Ala926Asp)
c.2570C>A (p.Ala857Asp)
11g.2411727C>ACA379132588TRPM5c.2515G>T (p.Ala839Ser)
c.2497G>T (p.Ala833Ser)
c.2776G>T (p.Ala926Ser)
c.2569G>T (p.Ala857Ser)
11g.2411727C=CA1948131710TRPM5c.2515G= (p.Ala839=)
c.2497G= (p.Ala833=)
c.2776G= (p.Ala926=)
c.2569G= (p.Ala857=)
11g.2411727C>GCA379132589TRPM5c.2515G>C (p.Ala839Pro)
c.2497G>C (p.Ala833Pro)
c.2776G>C (p.Ala926Pro)
c.2569G>C (p.Ala857Pro)
 gnomAD v4
11g.2411727C>TCA216322617TRPM5c.2515G>A (p.Ala839Thr)
c.2497G>A (p.Ala833Thr)
c.2776G>A (p.Ala926Thr)
c.2569G>A (p.Ala857Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2411728G>ACA5821025TRPM5c.2514C>T (p.Leu838=)
c.2496C>T (p.Leu832=)
c.2775C>T (p.Leu925=)
c.2568C>T (p.Leu856=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2411728G>CCA472415441TRPM5c.2514C>G (p.Leu838=)
c.2496C>G (p.Leu832=)
c.2775C>G (p.Leu925=)
c.2568C>G (p.Leu856=)
11g.2411728G=CA1948131713TRPM5c.2514C= (p.Leu838=)
c.2496C= (p.Leu832=)
c.2775C= (p.Leu925=)
c.2568C= (p.Leu856=)
11g.2411728G>TCA472415440TRPM5c.2514C>A (p.Leu838=)
c.2496C>A (p.Leu832=)
c.2775C>A (p.Leu925=)
c.2568C>A (p.Leu856=)
11g.2411729A>CCA379132591TRPM5c.2513T>G (p.Leu838Arg)
c.2495T>G (p.Leu832Arg)
c.2774T>G (p.Leu925Arg)
c.2567T>G (p.Leu856Arg)
11g.2411729A>GCA379132592TRPM5c.2513T>C (p.Leu838Pro)
c.2495T>C (p.Leu832Pro)
c.2774T>C (p.Leu925Pro)
c.2567T>C (p.Leu856Pro)
 gnomAD v4
11g.2411729A>TCA379132590TRPM5c.2513T>A (p.Leu838His)
c.2495T>A (p.Leu832His)
c.2774T>A (p.Leu925His)
c.2567T>A (p.Leu856His)
11g.2411730G>ACA379132593TRPM5c.2512C>T (p.Leu838Phe)
c.2494C>T (p.Leu832Phe)
c.2773C>T (p.Leu925Phe)
c.2566C>T (p.Leu856Phe)
11g.2411730G>CCA379132594TRPM5c.2512C>G (p.Leu838Val)
c.2494C>G (p.Leu832Val)
c.2773C>G (p.Leu925Val)
c.2566C>G (p.Leu856Val)
 dbSNP gnomAD v3 gnomAD v4
11g.2411730G=CA1948131716TRPM5c.2512C= (p.Leu838=)
c.2494C= (p.Leu832=)
c.2773C= (p.Leu925=)
c.2566C= (p.Leu856=)
11g.2411730G>TCA379132595TRPM5c.2512C>A (p.Leu838Ile)
c.2494C>A (p.Leu832Ile)
c.2773C>A (p.Leu925Ile)
c.2566C>A (p.Leu856Ile)
11g.2411731G>ACA472415444TRPM5c.2511C>T (p.Val837=)
c.2493C>T (p.Val831=)
c.2772C>T (p.Val924=)
c.2565C>T (p.Val855=)
11g.2411731G>CCA472415442TRPM5c.2511C>G (p.Val837=)
c.2493C>G (p.Val831=)
c.2772C>G (p.Val924=)
c.2565C>G (p.Val855=)
11g.2411731G>TCA472415443TRPM5c.2511C>A (p.Val837=)
c.2493C>A (p.Val831=)
c.2772C>A (p.Val924=)
c.2565C>A (p.Val855=)
11g.2411732A>CCA379132596TRPM5c.2510T>G (p.Val837Gly)
c.2492T>G (p.Val831Gly)
c.2771T>G (p.Val924Gly)
c.2564T>G (p.Val855Gly)
11g.2411732A>GCA379132597TRPM5c.2510T>C (p.Val837Ala)
c.2492T>C (p.Val831Ala)
c.2771T>C (p.Val924Ala)
c.2564T>C (p.Val855Ala)
 gnomAD v4
11g.2411732A>TCA379132598TRPM5c.2510T>A (p.Val837Asp)
c.2492T>A (p.Val831Asp)
c.2771T>A (p.Val924Asp)
c.2564T>A (p.Val855Asp)
11g.2411732_2411735delinsACTGCA1948131717TRPM5c.2507_2510delinsCAGT (p.Thr836=)
c.2489_2492delinsCAGT (p.Thr830=)
c.2768_2771delinsCAGT (p.Thr923=)
c.2561_2564delinsCAGT (p.Thr854=)
11g.2411733C>ACA379132599TRPM5c.2509G>T (p.Val837Phe)
c.2491G>T (p.Val831Phe)
c.2770G>T (p.Val924Phe)
c.2563G>T (p.Val855Phe)
11g.2411733C>GCA379132600TRPM5c.2509G>C (p.Val837Leu)
c.2491G>C (p.Val831Leu)
c.2770G>C (p.Val924Leu)
c.2563G>C (p.Val855Leu)
11g.2411733C>TCA379132601TRPM5c.2509G>A (p.Val837Ile)
c.2491G>A (p.Val831Ile)
c.2770G>A (p.Val924Ile)
c.2563G>A (p.Val855Ile)
11g.2411733_2411735delCA934449170TRPM5c.2507_2509del (p.Thr836_Val837delinsIle)
c.2489_2491del (p.Thr830_Val831delinsIle)
c.2768_2770del (p.Thr923_Val924delinsIle)
c.2561_2563del (p.Thr854_Val855delinsIle)
 dbSNP gnomAD v3 gnomAD v4
11g.2411733_2411735delinsCTGCA1948131720TRPM5c.2507_2509delinsCAG (p.Thr836=)
c.2489_2491delinsCAG (p.Thr830=)
c.2768_2770delinsCAG (p.Thr923=)
c.2561_2563delinsCAG (p.Thr854=)
11g.2411734T>ACA472415445TRPM5c.2508A>T (p.Thr836=)
c.2490A>T (p.Thr830=)
c.2769A>T (p.Thr923=)
c.2562A>T (p.Thr854=)
11g.2411734T>CCA5821026TRPM5c.2508A>G (p.Thr836=)
c.2490A>G (p.Thr830=)
c.2769A>G (p.Thr923=)
c.2562A>G (p.Thr854=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2411734T>GCA472415446TRPM5c.2508A>C (p.Thr836=)
c.2490A>C (p.Thr830=)
c.2769A>C (p.Thr923=)
c.2562A>C (p.Thr854=)
 gnomAD v4
11g.2411734T=CA1948131723TRPM5c.2508A= (p.Thr836=)
c.2490A= (p.Thr830=)
c.2769A= (p.Thr923=)
c.2562A= (p.Thr854=)
11g.2411736_2411737delCA216322644TRPM5c.2507_2508del (p.Thr836SerfsTer?)
c.2489_2490del (p.Thr830SerfsTer?)
c.2768_2769del (p.Thr923SerfsTer?)
c.2561_2562del (p.Thr854SerfsTer?)
 dbSNP
11g.2411735G>ACA379132602TRPM5c.2507C>T (p.Thr836Ile)
c.2489C>T (p.Thr830Ile)
c.2768C>T (p.Thr923Ile)
c.2561C>T (p.Thr854Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2411735G>CCA379132603TRPM5c.2507C>G (p.Thr836Arg)
c.2489C>G (p.Thr830Arg)
c.2768C>G (p.Thr923Arg)
c.2561C>G (p.Thr854Arg)
 gnomAD v4
11g.2411735G=CA1948131728TRPM5c.2507C= (p.Thr836=)
c.2489C= (p.Thr830=)
c.2768C= (p.Thr923=)
c.2561C= (p.Thr854=)
11g.2411735G>TCA379132604TRPM5c.2507C>A (p.Thr836Lys)
c.2489C>A (p.Thr830Lys)
c.2768C>A (p.Thr923Lys)
c.2561C>A (p.Thr854Lys)
11g.2411736T>ACA379132607TRPM5c.2506A>T (p.Thr836Ser)
c.2488A>T (p.Thr830Ser)
c.2767A>T (p.Thr923Ser)
c.2560A>T (p.Thr854Ser)
11g.2411736T>CCA379132606TRPM5c.2506A>G (p.Thr836Ala)
c.2488A>G (p.Thr830Ala)
c.2767A>G (p.Thr923Ala)
c.2560A>G (p.Thr854Ala)
 gnomAD v4
11g.2411736T>GCA379132605TRPM5c.2506A>C (p.Thr836Pro)
c.2488A>C (p.Thr830Pro)
c.2767A>C (p.Thr923Pro)
c.2560A>C (p.Thr854Pro)

Number of alleles fetched