Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.43252728A>CCA2628100859TGM5c.862+31T>G (n.862+31T>G)
n.331+31T>G
c.616+31T>G (n.616+31T>G)
c.859+31T>G (n.859+31T>G)
c.613+31T>G (n.613+31T>G)
c.865+31T>G (n.865+31T>G)
n.1036+31T>G
 gnomAD v4
15g.43252728A>GCA2575701572TGM5c.862+31T>C (n.862+31T>C)
n.331+31T>C
c.616+31T>C (n.616+31T>C)
c.859+31T>C (n.859+31T>C)
c.613+31T>C (n.613+31T>C)
c.865+31T>C (n.865+31T>C)
n.1036+31T>C
15g.43252730delCA2628100861TGM5c.862+30del (n.862+30del)
n.331+30del
c.616+30del (n.616+30del)
c.859+30del (n.859+30del)
c.613+30del (n.613+30del)
c.865+30del (n.865+30del)
n.1036+30del
 gnomAD v4
15g.43252731T>GCA7521177TGM5c.862+28A>C (n.862+28A>C)
n.331+28A>C
c.616+28A>C (n.616+28A>C)
c.859+28A>C (n.859+28A>C)
c.613+28A>C (n.613+28A>C)
c.865+28A>C (n.865+28A>C)
n.1036+28A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.43252731T=CA2173102579TGM5c.862+28A= (n.862+28A=)
n.331+28A=
c.616+28A= (n.616+28A=)
c.859+28A= (n.859+28A=)
c.613+28A= (n.613+28A=)
c.865+28A= (n.865+28A=)
n.1036+28A=
15g.43252734T>CCA269975119TGM5c.862+25A>G (n.862+25A>G)
n.331+25A>G
c.616+25A>G (n.616+25A>G)
c.859+25A>G (n.859+25A>G)
c.613+25A>G (n.613+25A>G)
c.865+25A>G (n.865+25A>G)
n.1036+25A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.43252734T=CA2173102580TGM5c.862+25A= (n.862+25A=)
n.331+25A=
c.616+25A= (n.616+25A=)
c.859+25A= (n.859+25A=)
c.613+25A= (n.613+25A=)
c.865+25A= (n.865+25A=)
n.1036+25A=
15g.43252735T>ACA2581211876TGM5c.862+24A>T (n.862+24A>T)
n.331+24A>T
c.616+24A>T (n.616+24A>T)
c.859+24A>T (n.859+24A>T)
c.613+24A>T (n.613+24A>T)
c.865+24A>T (n.865+24A>T)
n.1036+24A>T
15g.43252735T>CCA7521178TGM5c.862+24A>G (n.862+24A>G)
n.331+24A>G
c.616+24A>G (n.616+24A>G)
c.859+24A>G (n.859+24A>G)
c.613+24A>G (n.613+24A>G)
c.865+24A>G (n.865+24A>G)
n.1036+24A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252735T>GCA2581211875TGM5c.862+24A>C (n.862+24A>C)
n.331+24A>C
c.616+24A>C (n.616+24A>C)
c.859+24A>C (n.859+24A>C)
c.613+24A>C (n.613+24A>C)
c.865+24A>C (n.865+24A>C)
n.1036+24A>C
15g.43252735T=CA2173102581TGM5c.862+24A= (n.862+24A=)
n.331+24A=
c.616+24A= (n.616+24A=)
c.859+24A= (n.859+24A=)
c.613+24A= (n.613+24A=)
c.865+24A= (n.865+24A=)
n.1036+24A=
15g.43252736delCA2628100876TGM5c.862+23del (n.862+23del)
n.331+23del
c.616+23del (n.616+23del)
c.859+23del (n.859+23del)
c.613+23del (n.613+23del)
c.865+23del (n.865+23del)
n.1036+23del
 gnomAD v4
15g.43252736G>ACA618003359TGM5c.862+23C>T (n.862+23C>T)
n.331+23C>T
c.616+23C>T (n.616+23C>T)
c.859+23C>T (n.859+23C>T)
c.613+23C>T (n.613+23C>T)
c.865+23C>T (n.865+23C>T)
n.1036+23C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.43252736G>CCA969182760TGM5c.862+23C>G (n.862+23C>G)
n.331+23C>G
c.616+23C>G (n.616+23C>G)
c.859+23C>G (n.859+23C>G)
c.613+23C>G (n.613+23C>G)
c.865+23C>G (n.865+23C>G)
n.1036+23C>G
 dbSNP gnomAD v3 gnomAD v4
15g.43252736G=CA2173102582TGM5c.862+23C= (n.862+23C=)
n.331+23C=
c.616+23C= (n.616+23C=)
c.859+23C= (n.859+23C=)
c.613+23C= (n.613+23C=)
c.865+23C= (n.865+23C=)
n.1036+23C=
15g.43252738G>ACA2173102584TGM5c.862+21C>T (n.862+21C>T)
n.331+21C>T
c.616+21C>T (n.616+21C>T)
c.859+21C>T (n.859+21C>T)
c.613+21C>T (n.613+21C>T)
c.865+21C>T (n.865+21C>T)
n.1036+21C>T
 dbSNP
15g.43252738G=CA2173102583TGM5c.862+21C= (n.862+21C=)
n.331+21C=
c.616+21C= (n.616+21C=)
c.859+21C= (n.859+21C=)
c.613+21C= (n.613+21C=)
c.865+21C= (n.865+21C=)
n.1036+21C=
15g.43252739G=CA2173102585TGM5c.862+20C= (n.862+20C=)
n.331+20C=
c.616+20C= (n.616+20C=)
c.859+20C= (n.859+20C=)
c.613+20C= (n.613+20C=)
c.865+20C= (n.865+20C=)
n.1036+20C=
15g.43252739G>TCA618003360TGM5c.862+20C>A (n.862+20C>A)
n.331+20C>A
c.616+20C>A (n.616+20C>A)
c.859+20C>A (n.859+20C>A)
c.613+20C>A (n.613+20C>A)
c.865+20C>A (n.865+20C>A)
n.1036+20C>A
 dbSNP gnomAD v2
15g.43252740G>ACA712968713TGM5c.862+19C>T (n.862+19C>T)
n.331+19C>T
c.616+19C>T (n.616+19C>T)
c.859+19C>T (n.859+19C>T)
c.613+19C>T (n.613+19C>T)
c.865+19C>T (n.865+19C>T)
n.1036+19C>T
 dbSNP gnomAD v3 gnomAD v4
15g.43252740G>CCA618003361TGM5c.862+19C>G (n.862+19C>G)
n.331+19C>G
c.616+19C>G (n.616+19C>G)
c.859+19C>G (n.859+19C>G)
c.613+19C>G (n.613+19C>G)
c.865+19C>G (n.865+19C>G)
n.1036+19C>G
 dbSNP gnomAD v2 gnomAD v4
15g.43252740G=CA2173102586TGM5c.862+19C= (n.862+19C=)
n.331+19C=
c.616+19C= (n.616+19C=)
c.859+19C= (n.859+19C=)
c.613+19C= (n.613+19C=)
c.865+19C= (n.865+19C=)
n.1036+19C=
15g.43252741G>ACA2173102588TGM5c.862+18C>T (n.862+18C>T)
n.331+18C>T
c.616+18C>T (n.616+18C>T)
c.859+18C>T (n.859+18C>T)
c.613+18C>T (n.613+18C>T)
c.865+18C>T (n.865+18C>T)
n.1036+18C>T
 dbSNP
15g.43252741G>CCA2575701573TGM5c.862+18C>G (n.862+18C>G)
n.331+18C>G
c.616+18C>G (n.616+18C>G)
c.859+18C>G (n.859+18C>G)
c.613+18C>G (n.613+18C>G)
c.865+18C>G (n.865+18C>G)
n.1036+18C>G
 gnomAD v4
15g.43252741G=CA2173102587TGM5c.862+18C= (n.862+18C=)
n.331+18C=
c.616+18C= (n.616+18C=)
c.859+18C= (n.859+18C=)
c.613+18C= (n.613+18C=)
c.865+18C= (n.865+18C=)
n.1036+18C=
15g.43252741G>TCA7521179TGM5c.862+18C>A (n.862+18C>A)
n.331+18C>A
c.616+18C>A (n.616+18C>A)
c.859+18C>A (n.859+18C>A)
c.613+18C>A (n.613+18C>A)
c.865+18C>A (n.865+18C>A)
n.1036+18C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252742T>ACA2173102590TGM5c.862+17A>T (n.862+17A>T)
n.331+17A>T
c.616+17A>T (n.616+17A>T)
c.859+17A>T (n.859+17A>T)
c.613+17A>T (n.613+17A>T)
c.865+17A>T (n.865+17A>T)
n.1036+17A>T
 dbSNP gnomAD v4
15g.43252742T=CA2173102591TGM5c.862+17A= (n.862+17A=)
n.331+17A=
c.616+17A= (n.616+17A=)
c.859+17A= (n.859+17A=)
c.613+17A= (n.613+17A=)
c.865+17A= (n.865+17A=)
n.1036+17A=
15g.43252742_43252750delinsTCCTTTCTACA2173102589TGM5c.862+9_862+17delinsTAGAAAGGA (n.862+9_862+17delinsTAGAAAGGA)
n.331+9_331+17delinsTAGAAAGGA
c.616+9_616+17delinsTAGAAAGGA (n.616+9_616+17delinsTAGAAAGGA)
c.859+9_859+17delinsTAGAAAGGA (n.859+9_859+17delinsTAGAAAGGA)
c.613+9_613+17delinsTAGAAAGGA (n.613+9_613+17delinsTAGAAAGGA)
c.865+9_865+17delinsTAGAAAGGA (n.865+9_865+17delinsTAGAAAGGA)
n.1036+9_1036+17delinsTAGAAAGGA
15g.43252743C>ACA2628100907TGM5c.862+16G>T (n.862+16G>T)
n.331+16G>T
c.616+16G>T (n.616+16G>T)
c.859+16G>T (n.859+16G>T)
c.613+16G>T (n.613+16G>T)
c.865+16G>T (n.865+16G>T)
n.1036+16G>T
 gnomAD v4
15g.43252743C>TCA2628100909TGM5c.862+16G>A (n.862+16G>A)
n.331+16G>A
c.616+16G>A (n.616+16G>A)
c.859+16G>A (n.859+16G>A)
c.613+16G>A (n.613+16G>A)
c.865+16G>A (n.865+16G>A)
n.1036+16G>A
 gnomAD v4
15g.43252744delCA2628100905TGM5c.862+16del (n.862+16del)
n.331+16del
c.616+16del (n.616+16del)
c.859+16del (n.859+16del)
c.613+16del (n.613+16del)
c.865+16del (n.865+16del)
n.1036+16del
 gnomAD v4
15g.43252746_43252753delCA7521180TGM5c.862+9_862+16del (n.862+9_862+16del)
n.331+9_331+16del
c.616+9_616+16del (n.616+9_616+16del)
c.859+9_859+16del (n.859+9_859+16del)
c.613+9_613+16del (n.613+9_613+16del)
c.865+9_865+16del (n.865+9_865+16del)
n.1036+9_1036+16del
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.43252744_43252767dupCA2628100910TGM5c.854_862+15dup
n.323_331+15dup
c.608_616+15dup
c.851_859+15dup
c.605_613+15dup
c.857_865+15dup
n.1028_1036+15dup
 gnomAD v4
15g.43252745T>CCA2628100911TGM5c.862+14A>G (n.862+14A>G)
n.331+14A>G
c.616+14A>G (n.616+14A>G)
c.859+14A>G (n.859+14A>G)
c.613+14A>G (n.613+14A>G)
c.865+14A>G (n.865+14A>G)
n.1036+14A>G
 gnomAD v4
15g.43252747T>CCA7521182TGM5c.862+12A>G (n.862+12A>G)
n.331+12A>G
c.616+12A>G (n.616+12A>G)
c.859+12A>G (n.859+12A>G)
c.613+12A>G (n.613+12A>G)
c.865+12A>G (n.865+12A>G)
n.1036+12A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252747T>GCA7521181TGM5c.862+12A>C (n.862+12A>C)
n.331+12A>C
c.616+12A>C (n.616+12A>C)
c.859+12A>C (n.859+12A>C)
c.613+12A>C (n.613+12A>C)
c.865+12A>C (n.865+12A>C)
n.1036+12A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252747T=CA2173102592TGM5c.862+12A= (n.862+12A=)
n.331+12A=
c.616+12A= (n.616+12A=)
c.859+12A= (n.859+12A=)
c.613+12A= (n.613+12A=)
c.865+12A= (n.865+12A=)
n.1036+12A=
15g.43252748C>TCA2628100915TGM5c.862+11G>A (n.862+11G>A)
n.331+11G>A
c.616+11G>A (n.616+11G>A)
c.859+11G>A (n.859+11G>A)
c.613+11G>A (n.613+11G>A)
c.865+11G>A (n.865+11G>A)
n.1036+11G>A
 gnomAD v4
15g.43252750A=CA2173102593TGM5c.862+9T= (n.862+9T=)
n.331+9T=
c.616+9T= (n.616+9T=)
c.859+9T= (n.859+9T=)
c.613+9T= (n.613+9T=)
c.865+9T= (n.865+9T=)
n.1036+9T=
15g.43252750A>GCA7521183TGM5c.862+9T>C (n.862+9T>C)
n.331+9T>C
c.616+9T>C (n.616+9T>C)
c.859+9T>C (n.859+9T>C)
c.613+9T>C (n.613+9T>C)
c.865+9T>C (n.865+9T>C)
n.1036+9T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252752C>ACA2628100921TGM5c.862+7G>T (n.862+7G>T)
n.331+7G>T
c.616+7G>T (n.616+7G>T)
c.859+7G>T (n.859+7G>T)
c.613+7G>T (n.613+7G>T)
c.865+7G>T (n.865+7G>T)
n.1036+7G>T
 gnomAD v4
15g.43252752C=CA2173102594TGM5c.862+7G= (n.862+7G=)
n.331+7G=
c.616+7G= (n.616+7G=)
c.859+7G= (n.859+7G=)
c.613+7G= (n.613+7G=)
c.865+7G= (n.865+7G=)
n.1036+7G=
15g.43252752C>TCA7521184TGM5c.862+7G>A (n.862+7G>A)
n.331+7G>A
c.616+7G>A (n.616+7G>A)
c.859+7G>A (n.859+7G>A)
c.613+7G>A (n.613+7G>A)
c.865+7G>A (n.865+7G>A)
n.1036+7G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.43252753T>CCA2803936614TGM5c.862+6A>G (n.862+6A>G)
n.331+6A>G
c.616+6A>G (n.616+6A>G)
c.859+6A>G (n.859+6A>G)
c.613+6A>G (n.613+6A>G)
c.865+6A>G (n.865+6A>G)
n.1036+6A>G
15g.43252754C>ACA618003367TGM5c.862+5G>T (n.862+5G>T)
n.331+5G>T
c.616+5G>T (n.616+5G>T)
c.859+5G>T (n.859+5G>T)
c.613+5G>T (n.613+5G>T)
c.865+5G>T (n.865+5G>T)
n.1036+5G>T
 dbSNP gnomAD v2
15g.43252754C=CA2173102595TGM5c.862+5G= (n.862+5G=)
n.331+5G=
c.616+5G= (n.616+5G=)
c.859+5G= (n.859+5G=)
c.613+5G= (n.613+5G=)
c.865+5G= (n.865+5G=)
n.1036+5G=
15g.43252755C>TCA2575701574TGM5c.862+4G>A (n.862+4G>A)
n.331+4G>A
c.616+4G>A (n.616+4G>A)
c.859+4G>A (n.859+4G>A)
c.613+4G>A (n.613+4G>A)
c.865+4G>A (n.865+4G>A)
n.1036+4G>A
 gnomAD v4
15g.43252756T>CCA269975150TGM5c.862+3A>G (n.862+3A>G)
n.331+3A>G
c.616+3A>G (n.616+3A>G)
c.859+3A>G (n.859+3A>G)
c.613+3A>G (n.613+3A>G)
c.865+3A>G (n.865+3A>G)
n.1036+3A>G
 dbSNP gnomAD v4
15g.43252756T=CA2173102596TGM5c.862+3A= (n.862+3A=)
n.331+3A=
c.616+3A= (n.616+3A=)
c.859+3A= (n.859+3A=)
c.613+3A= (n.613+3A=)
c.865+3A= (n.865+3A=)
n.1036+3A=
15g.43252757A>CCA392098781TGM5c.862+2T>G (n.862+2T>G)
n.331+2T>G
c.616+2T>G (n.616+2T>G)
c.859+2T>G (n.859+2T>G)
c.613+2T>G (n.613+2T>G)
c.865+2T>G (n.865+2T>G)
n.1036+2T>G
15g.43252757A>GCA392098787TGM5c.862+2T>C (n.862+2T>C)
n.331+2T>C
c.616+2T>C (n.616+2T>C)
c.859+2T>C (n.859+2T>C)
c.613+2T>C (n.613+2T>C)
c.865+2T>C (n.865+2T>C)
n.1036+2T>C
 gnomAD v4
15g.43252757A>TCA392098784TGM5c.862+2T>A (n.862+2T>A)
n.331+2T>A
c.616+2T>A (n.616+2T>A)
c.859+2T>A (n.859+2T>A)
c.613+2T>A (n.613+2T>A)
c.865+2T>A (n.865+2T>A)
n.1036+2T>A
15g.43252758C>ACA7521185TGM5c.862+1G>T (n.862+1G>T)
n.331+1G>T
c.616+1G>T (n.616+1G>T)
c.859+1G>T (n.859+1G>T)
c.613+1G>T (n.613+1G>T)
c.865+1G>T (n.865+1G>T)
n.1036+1G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252758C=CA2173102597TGM5c.862+1G= (n.862+1G=)
n.331+1G=
c.616+1G= (n.616+1G=)
c.859+1G= (n.859+1G=)
c.613+1G= (n.613+1G=)
c.865+1G= (n.865+1G=)
n.1036+1G=
15g.43252758C>GCA392098791TGM5c.862+1G>C (n.862+1G>C)
n.331+1G>C
c.616+1G>C (n.616+1G>C)
c.859+1G>C (n.859+1G>C)
c.613+1G>C (n.613+1G>C)
c.865+1G>C (n.865+1G>C)
n.1036+1G>C
15g.43252758C>TCA392098793TGM5c.862+1G>A (n.862+1G>A)
n.331+1G>A
c.616+1G>A (n.616+1G>A)
c.859+1G>A (n.859+1G>A)
c.613+1G>A (n.613+1G>A)
c.865+1G>A (n.865+1G>A)
n.1036+1G>A
15g.43252759C>ACA392098796TGM5c.862G>T (p.Val288Leu)
n.331G>T
c.616G>T (p.Val206Leu)
c.859G>T (p.Val287Leu)
c.613G>T (p.Val205Leu)
c.865G>T (p.Val289Leu)
n.1036G>T
15g.43252759C=CA2173102598TGM5c.862G= (p.Val288=)
n.331G=
c.616G= (p.Val206=)
c.859G= (p.Val287=)
c.613G= (p.Val205=)
c.865G= (p.Val289=)
n.1036G=
15g.43252759C>GCA392098798TGM5c.862G>C (p.Val288Leu)
n.331G>C
c.616G>C (p.Val206Leu)
c.859G>C (p.Val287Leu)
c.613G>C (p.Val205Leu)
c.865G>C (p.Val289Leu)
n.1036G>C
 gnomAD v4
15g.43252759C>TCA392098799TGM5c.862G>A (p.Val288Met)
n.331G>A
c.616G>A (p.Val206Met)
c.859G>A (p.Val287Met)
c.613G>A (p.Val205Met)
c.865G>A (p.Val289Met)
n.1036G>A
 dbSNP gnomAD v3 gnomAD v4
15g.43252760T>ACA490131432TGM5c.861A>T (p.Thr287=)
n.330A>T
c.615A>T (p.Thr205=)
c.858A>T (p.Thr286=)
c.612A>T (p.Thr204=)
c.864A>T (p.Thr288=)
n.1035A>T
15g.43252760T>CCA7521186TGM5c.861A>G (p.Thr287=)
n.330A>G
c.615A>G (p.Thr205=)
c.858A>G (p.Thr286=)
c.612A>G (p.Thr204=)
c.864A>G (p.Thr288=)
n.1035A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252760T>GCA490131433TGM5c.861A>C (p.Thr287=)
n.330A>C
c.615A>C (p.Thr205=)
c.858A>C (p.Thr286=)
c.612A>C (p.Thr204=)
c.864A>C (p.Thr288=)
n.1035A>C
15g.43252760T=CA2173102599TGM5c.861A= (p.Thr287=)
n.330A=
c.615A= (p.Thr205=)
c.858A= (p.Thr286=)
c.612A= (p.Thr204=)
c.864A= (p.Thr288=)
n.1035A=
15g.43252761G>ACA392098802TGM5c.860C>T (p.Thr287Ile)
n.329C>T
c.614C>T (p.Thr205Ile)
c.857C>T (p.Thr286Ile)
c.611C>T (p.Thr204Ile)
c.863C>T (p.Thr288Ile)
n.1034C>T
15g.43252761G>CCA392098804TGM5c.860C>G (p.Thr287Arg)
n.329C>G
c.614C>G (p.Thr205Arg)
c.857C>G (p.Thr286Arg)
c.611C>G (p.Thr204Arg)
c.863C>G (p.Thr288Arg)
n.1034C>G
15g.43252761G>TCA392098806TGM5c.860C>A (p.Thr287Lys)
n.329C>A
c.614C>A (p.Thr205Lys)
c.857C>A (p.Thr286Lys)
c.611C>A (p.Thr204Lys)
c.863C>A (p.Thr288Lys)
n.1034C>A
15g.43252762T>ACA392098809TGM5c.859A>T (p.Thr287Ser)
n.328A>T
c.613A>T (p.Thr205Ser)
c.856A>T (p.Thr286Ser)
c.610A>T (p.Thr204Ser)
c.862A>T (p.Thr288Ser)
n.1033A>T
15g.43252762T>CCA392098811TGM5c.859A>G (p.Thr287Ala)
n.328A>G
c.613A>G (p.Thr205Ala)
c.856A>G (p.Thr286Ala)
c.610A>G (p.Thr204Ala)
c.862A>G (p.Thr288Ala)
n.1033A>G
 gnomAD v4
15g.43252762T>GCA392098813TGM5c.859A>C (p.Thr287Pro)
n.328A>C
c.613A>C (p.Thr205Pro)
c.856A>C (p.Thr286Pro)
c.610A>C (p.Thr204Pro)
c.862A>C (p.Thr288Pro)
n.1033A>C
15g.43252763G>ACA490131434TGM5c.858C>T (p.Cys286=)
n.327C>T
c.612C>T (p.Cys204=)
c.855C>T (p.Cys285=)
c.609C>T (p.Cys203=)
c.861C>T (p.Cys287=)
n.1032C>T
 gnomAD v4
15g.43252763G>CCA392098818TGM5c.858C>G (p.Cys286Trp)
n.327C>G
c.612C>G (p.Cys204Trp)
c.855C>G (p.Cys285Trp)
c.609C>G (p.Cys203Trp)
c.861C>G (p.Cys287Trp)
n.1032C>G
15g.43252763G>TCA392098816TGM5c.858C>A (p.Cys286Ter)
n.327C>A
c.612C>A (p.Cys204Ter)
c.855C>A (p.Cys285Ter)
c.609C>A (p.Cys203Ter)
c.861C>A (p.Cys287Ter)
n.1032C>A
15g.43252764C>ACA392098821TGM5c.857G>T (p.Cys286Phe)
n.326G>T
c.611G>T (p.Cys204Phe)
c.854G>T (p.Cys285Phe)
c.608G>T (p.Cys203Phe)
c.860G>T (p.Cys287Phe)
n.1031G>T
 dbSNP gnomAD v3 gnomAD v4
15g.43252764C=CA2173102600TGM5c.857G= (p.Cys286=)
n.326G=
c.611G= (p.Cys204=)
c.854G= (p.Cys285=)
c.608G= (p.Cys203=)
c.860G= (p.Cys287=)
n.1031G=
15g.43252764C>GCA392098823TGM5c.857G>C (p.Cys286Ser)
n.326G>C
c.611G>C (p.Cys204Ser)
c.854G>C (p.Cys285Ser)
c.608G>C (p.Cys203Ser)
c.860G>C (p.Cys287Ser)
n.1031G>C
15g.43252764C>TCA392098825TGM5c.857G>A (p.Cys286Tyr)
n.326G>A
c.611G>A (p.Cys204Tyr)
c.854G>A (p.Cys285Tyr)
c.608G>A (p.Cys203Tyr)
c.860G>A (p.Cys287Tyr)
n.1031G>A
15g.43252765A=CA2173102601TGM5c.856T= (p.Cys286=)
n.325T=
c.610T= (p.Cys204=)
c.853T= (p.Cys285=)
c.607T= (p.Cys203=)
c.859T= (p.Cys287=)
n.1030T=
15g.43252765A>CCA392098828TGM5c.856T>G (p.Cys286Gly)
n.325T>G
c.610T>G (p.Cys204Gly)
c.853T>G (p.Cys285Gly)
c.607T>G (p.Cys203Gly)
c.859T>G (p.Cys287Gly)
n.1030T>G
 dbSNP gnomAD v3 gnomAD v4 COSMIC
15g.43252765A>GCA392098830TGM5c.856T>C (p.Cys286Arg)
n.325T>C
c.610T>C (p.Cys204Arg)
c.853T>C (p.Cys285Arg)
c.607T>C (p.Cys203Arg)
c.859T>C (p.Cys287Arg)
n.1030T>C
15g.43252765A>TCA392098832TGM5c.856T>A (p.Cys286Ser)
n.325T>A
c.610T>A (p.Cys204Ser)
c.853T>A (p.Cys285Ser)
c.607T>A (p.Cys203Ser)
c.859T>A (p.Cys287Ser)
n.1030T>A
15g.43252766C>ACA392098834TGM5c.855G>T (p.Met285Ile)
n.324G>T
c.609G>T (p.Met203Ile)
c.852G>T (p.Met284Ile)
c.606G>T (p.Met202Ile)
c.858G>T (p.Met286Ile)
n.1029G>T
15g.43252766C=CA2173102602TGM5c.855G= (p.Met285=)
n.324G=
c.609G= (p.Met203=)
c.852G= (p.Met284=)
c.606G= (p.Met202=)
c.858G= (p.Met286=)
n.1029G=
15g.43252766C>GCA392098836TGM5c.855G>C (p.Met285Ile)
n.324G>C
c.609G>C (p.Met203Ile)
c.852G>C (p.Met284Ile)
c.606G>C (p.Met202Ile)
c.858G>C (p.Met286Ile)
n.1029G>C
15g.43252766C>TCA7521187TGM5c.855G>A (p.Met285Ile)
n.324G>A
c.609G>A (p.Met203Ile)
c.852G>A (p.Met284Ile)
c.606G>A (p.Met202Ile)
c.858G>A (p.Met286Ile)
n.1029G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.43252767A=CA2173102603TGM5c.854T= (p.Met285=)
n.323T=
c.608T= (p.Met203=)
c.851T= (p.Met284=)
c.605T= (p.Met202=)
c.857T= (p.Met286=)
n.1028T=
15g.43252767A>CCA392098840TGM5c.854T>G (p.Met285Arg)
n.323T>G
c.608T>G (p.Met203Arg)
c.851T>G (p.Met284Arg)
c.605T>G (p.Met202Arg)
c.857T>G (p.Met286Arg)
n.1028T>G
15g.43252767A>GCA7521188TGM5c.854T>C (p.Met285Thr)
n.323T>C
c.608T>C (p.Met203Thr)
c.851T>C (p.Met284Thr)
c.605T>C (p.Met202Thr)
c.857T>C (p.Met286Thr)
n.1028T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.43252767A>TCA392098842TGM5c.854T>A (p.Met285Lys)
n.323T>A
c.608T>A (p.Met203Lys)
c.851T>A (p.Met284Lys)
c.605T>A (p.Met202Lys)
c.857T>A (p.Met286Lys)
n.1028T>A
15g.43252767_43252768delCA2575701575TGM5c.853_854del (p.Met285ValfsTer?)
n.322_323del
c.607_608del (p.Met203ValfsTer?)
c.850_851del (p.Met284ValfsTer?)
c.604_605del (p.Met202ValfsTer?)
c.856_857del (p.Met286ValfsTer?)
n.1027_1028del
 gnomAD v4
15g.43252768T>ACA392098846TGM5c.853A>T (p.Met285Leu)
n.322A>T
c.607A>T (p.Met203Leu)
c.850A>T (p.Met284Leu)
c.604A>T (p.Met202Leu)
c.856A>T (p.Met286Leu)
n.1027A>T
15g.43252768T>CCA392098850TGM5c.853A>G (p.Met285Val)
n.322A>G
c.607A>G (p.Met203Val)
c.850A>G (p.Met284Val)
c.604A>G (p.Met202Val)
c.856A>G (p.Met286Val)
n.1027A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.43252768T>GCA392098848TGM5c.853A>C (p.Met285Leu)
n.322A>C
c.607A>C (p.Met203Leu)
c.850A>C (p.Met284Leu)
c.604A>C (p.Met202Leu)
c.856A>C (p.Met286Leu)
n.1027A>C
15g.43252768T=CA2173102604TGM5c.853A= (p.Met285=)
n.322A=
c.607A= (p.Met203=)
c.850A= (p.Met284=)
c.604A= (p.Met202=)
c.856A= (p.Met286=)
n.1027A=
15g.43252769G>ACA490131435TGM5c.852C>T (p.Val284=)
n.321C>T
c.606C>T (p.Val202=)
c.849C>T (p.Val283=)
c.603C>T (p.Val201=)
c.855C>T (p.Val285=)
n.1026C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
15g.43252769G>CCA490131436TGM5c.852C>G (p.Val284=)
n.321C>G
c.606C>G (p.Val202=)
c.849C>G (p.Val283=)
c.603C>G (p.Val201=)
c.855C>G (p.Val285=)
n.1026C>G
15g.43252769G=CA2173102605TGM5c.852C= (p.Val284=)
n.321C=
c.606C= (p.Val202=)
c.849C= (p.Val283=)
c.603C= (p.Val201=)
c.855C= (p.Val285=)
n.1026C=
15g.43252769G>TCA490131437TGM5c.852C>A (p.Val284=)
n.321C>A
c.606C>A (p.Val202=)
c.849C>A (p.Val283=)
c.603C>A (p.Val201=)
c.855C>A (p.Val285=)
n.1026C>A
15g.43252770A=CA2173102606TGM5c.851T= (p.Val284=)
n.320T=
c.605T= (p.Val202=)
c.848T= (p.Val283=)
c.602T= (p.Val201=)
c.854T= (p.Val285=)
n.1025T=
15g.43252770A>CCA392098854TGM5c.851T>G (p.Val284Gly)
n.320T>G
c.605T>G (p.Val202Gly)
c.848T>G (p.Val283Gly)
c.602T>G (p.Val201Gly)
c.854T>G (p.Val285Gly)
n.1025T>G
15g.43252770A>GCA392098858TGM5c.851T>C (p.Val284Ala)
n.320T>C
c.605T>C (p.Val202Ala)
c.848T>C (p.Val283Ala)
c.602T>C (p.Val201Ala)
c.854T>C (p.Val285Ala)
n.1025T>C
 dbSNP gnomAD v2 gnomAD v4
15g.43252770A>TCA392098855TGM5c.851T>A (p.Val284Asp)
n.320T>A
c.605T>A (p.Val202Asp)
c.848T>A (p.Val283Asp)
c.602T>A (p.Val201Asp)
c.854T>A (p.Val285Asp)
n.1025T>A
15g.43252771C>ACA392098861TGM5c.850G>T (p.Val284Phe)
n.319G>T
c.604G>T (p.Val202Phe)
c.847G>T (p.Val283Phe)
c.601G>T (p.Val201Phe)
c.853G>T (p.Val285Phe)
n.1024G>T
15g.43252771C=CA2173102607TGM5c.850G= (p.Val284=)
n.319G=
c.604G= (p.Val202=)
c.847G= (p.Val283=)
c.601G= (p.Val201=)
c.853G= (p.Val285=)
n.1024G=
15g.43252771C>GCA392098863TGM5c.850G>C (p.Val284Leu)
n.319G>C
c.604G>C (p.Val202Leu)
c.847G>C (p.Val283Leu)
c.601G>C (p.Val201Leu)
c.853G>C (p.Val285Leu)
n.1024G>C
 gnomAD v4
15g.43252771C>TCA7521189TGM5c.850G>A (p.Val284Ile)
n.319G>A
c.604G>A (p.Val202Ile)
c.847G>A (p.Val283Ile)
c.601G>A (p.Val201Ile)
c.853G>A (p.Val285Ile)
n.1024G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.43252772G>ACA7521190TGM5c.849C>T (p.Ala283=)
n.318C>T
c.603C>T (p.Ala201=)
c.846C>T (p.Ala282=)
c.600C>T (p.Ala200=)
c.852C>T (p.Ala284=)
n.1023C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252772G>CCA490131438TGM5c.849C>G (p.Ala283=)
n.318C>G
c.603C>G (p.Ala201=)
c.846C>G (p.Ala282=)
c.600C>G (p.Ala200=)
c.852C>G (p.Ala284=)
n.1023C>G
15g.43252772G=CA2173102608TGM5c.849C= (p.Ala283=)
n.318C=
c.603C= (p.Ala201=)
c.846C= (p.Ala282=)
c.600C= (p.Ala200=)
c.852C= (p.Ala284=)
n.1023C=
15g.43252772G>TCA490131439TGM5c.849C>A (p.Ala283=)
n.318C>A
c.603C>A (p.Ala201=)
c.846C>A (p.Ala282=)
c.600C>A (p.Ala200=)
c.852C>A (p.Ala284=)
n.1023C>A
 gnomAD v4
15g.43252773G>ACA392098869TGM5c.848C>T (p.Ala283Val)
n.317C>T
c.602C>T (p.Ala201Val)
c.845C>T (p.Ala282Val)
c.599C>T (p.Ala200Val)
c.851C>T (p.Ala284Val)
n.1022C>T
 gnomAD v4
15g.43252773G>CCA392098871TGM5c.848C>G (p.Ala283Gly)
n.317C>G
c.602C>G (p.Ala201Gly)
c.845C>G (p.Ala282Gly)
c.599C>G (p.Ala200Gly)
c.851C>G (p.Ala284Gly)
n.1022C>G
15g.43252773G>TCA392098873TGM5c.848C>A (p.Ala283Asp)
n.317C>A
c.602C>A (p.Ala201Asp)
c.845C>A (p.Ala282Asp)
c.599C>A (p.Ala200Asp)
c.851C>A (p.Ala284Asp)
n.1022C>A
15g.43252774C>ACA392098877TGM5c.847G>T (p.Ala283Ser)
n.316G>T
c.601G>T (p.Ala201Ser)
c.844G>T (p.Ala282Ser)
c.598G>T (p.Ala200Ser)
c.850G>T (p.Ala284Ser)
n.1021G>T
15g.43252774C>GCA392098879TGM5c.847G>C (p.Ala283Pro)
n.316G>C
c.601G>C (p.Ala201Pro)
c.844G>C (p.Ala282Pro)
c.598G>C (p.Ala200Pro)
c.850G>C (p.Ala284Pro)
n.1021G>C
 gnomAD v4
15g.43252774C>TCA392098881TGM5c.847G>A (p.Ala283Thr)
n.316G>A
c.601G>A (p.Ala201Thr)
c.844G>A (p.Ala282Thr)
c.598G>A (p.Ala200Thr)
c.850G>A (p.Ala284Thr)
n.1021G>A
15g.43252775A>CCA490131440TGM5c.846T>G (p.Ala282=)
n.315T>G
c.600T>G (p.Ala200=)
c.843T>G (p.Ala281=)
c.597T>G (p.Ala199=)
c.849T>G (p.Ala283=)
n.1020T>G
15g.43252775A>GCA490131441TGM5c.846T>C (p.Ala282=)
n.315T>C
c.600T>C (p.Ala200=)
c.843T>C (p.Ala281=)
c.597T>C (p.Ala199=)
c.849T>C (p.Ala283=)
n.1020T>C
15g.43252775A>TCA490131442TGM5c.846T>A (p.Ala282=)
n.315T>A
c.600T>A (p.Ala200=)
c.843T>A (p.Ala281=)
c.597T>A (p.Ala199=)
c.849T>A (p.Ala283=)
n.1020T>A
15g.43252776G>ACA392098883TGM5c.845C>T (p.Ala282Val)
n.314C>T
c.599C>T (p.Ala200Val)
c.842C>T (p.Ala281Val)
c.596C>T (p.Ala199Val)
c.848C>T (p.Ala283Val)
n.1019C>T
 COSMIC
15g.43252776G>CCA392098885TGM5c.845C>G (p.Ala282Gly)
n.314C>G
c.599C>G (p.Ala200Gly)
c.842C>G (p.Ala281Gly)
c.596C>G (p.Ala199Gly)
c.848C>G (p.Ala283Gly)
n.1019C>G
15g.43252776G>TCA392098887TGM5c.845C>A (p.Ala282Asp)
n.314C>A
c.599C>A (p.Ala200Asp)
c.842C>A (p.Ala281Asp)
c.596C>A (p.Ala199Asp)
c.848C>A (p.Ala283Asp)
n.1019C>A
15g.43252777C>ACA392098891TGM5c.844G>T (p.Ala282Ser)
n.313G>T
c.598G>T (p.Ala200Ser)
c.841G>T (p.Ala281Ser)
c.595G>T (p.Ala199Ser)
c.847G>T (p.Ala283Ser)
n.1018G>T
15g.43252777C>GCA392098895TGM5c.844G>C (p.Ala282Pro)
n.313G>C
c.598G>C (p.Ala200Pro)
c.841G>C (p.Ala281Pro)
c.595G>C (p.Ala199Pro)
c.847G>C (p.Ala283Pro)
n.1018G>C
15g.43252777C>TCA392098893TGM5c.844G>A (p.Ala282Thr)
n.313G>A
c.598G>A (p.Ala200Thr)
c.841G>A (p.Ala281Thr)
c.595G>A (p.Ala199Thr)
c.847G>A (p.Ala283Thr)
n.1018G>A
15g.43252778A=CA2173102609TGM5c.843T= (p.Phe281=)
n.312T=
c.597T= (p.Phe199=)
c.840T= (p.Phe280=)
c.594T= (p.Phe198=)
c.846T= (p.Phe282=)
n.1017T=
15g.43252778A>CCA392098898TGM5c.843T>G (p.Phe281Leu)
n.312T>G
c.597T>G (p.Phe199Leu)
c.840T>G (p.Phe280Leu)
c.594T>G (p.Phe198Leu)
c.846T>G (p.Phe282Leu)
n.1017T>G
15g.43252778A>GCA7521191TGM5c.843T>C (p.Phe281=)
n.312T>C
c.597T>C (p.Phe199=)
c.840T>C (p.Phe280=)
c.594T>C (p.Phe198=)
c.846T>C (p.Phe282=)
n.1017T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252778A>TCA392098901TGM5c.843T>A (p.Phe281Leu)
n.312T>A
c.597T>A (p.Phe199Leu)
c.840T>A (p.Phe280Leu)
c.594T>A (p.Phe198Leu)
c.846T>A (p.Phe282Leu)
n.1017T>A
15g.43252779A>CCA392098903TGM5c.842T>G (p.Phe281Cys)
n.311T>G
c.596T>G (p.Phe199Cys)
c.839T>G (p.Phe280Cys)
c.593T>G (p.Phe198Cys)
c.845T>G (p.Phe282Cys)
n.1016T>G
15g.43252779A>GCA392098906TGM5c.842T>C (p.Phe281Ser)
n.311T>C
c.596T>C (p.Phe199Ser)
c.839T>C (p.Phe280Ser)
c.593T>C (p.Phe198Ser)
c.845T>C (p.Phe282Ser)
n.1016T>C
15g.43252779A>TCA392098909TGM5c.842T>A (p.Phe281Tyr)
n.311T>A
c.596T>A (p.Phe199Tyr)
c.839T>A (p.Phe280Tyr)
c.593T>A (p.Phe198Tyr)
c.845T>A (p.Phe282Tyr)
n.1016T>A
15g.43252780A>CCA392098912TGM5c.841T>G (p.Phe281Val)
n.310T>G
c.595T>G (p.Phe199Val)
c.838T>G (p.Phe280Val)
c.592T>G (p.Phe198Val)
c.844T>G (p.Phe282Val)
n.1015T>G
15g.43252780A>GCA392098914TGM5c.841T>C (p.Phe281Leu)
n.310T>C
c.595T>C (p.Phe199Leu)
c.838T>C (p.Phe280Leu)
c.592T>C (p.Phe198Leu)
c.844T>C (p.Phe282Leu)
n.1015T>C
15g.43252780A>TCA392098917TGM5c.841T>A (p.Phe281Ile)
n.310T>A
c.595T>A (p.Phe199Ile)
c.838T>A (p.Phe280Ile)
c.592T>A (p.Phe198Ile)
c.844T>A (p.Phe282Ile)
n.1015T>A
15g.43252781G>ACA490131445TGM5c.840C>T (p.Val280=)
n.309C>T
c.594C>T (p.Val198=)
c.837C>T (p.Val279=)
c.591C>T (p.Val197=)
c.843C>T (p.Val281=)
n.1014C>T
15g.43252781G>CCA490131444TGM5c.840C>G (p.Val280=)
n.309C>G
c.594C>G (p.Val198=)
c.837C>G (p.Val279=)
c.591C>G (p.Val197=)
c.843C>G (p.Val281=)
n.1014C>G
 dbSNP gnomAD v2 gnomAD v4
15g.43252781G=CA2173102610TGM5c.840C= (p.Val280=)
n.309C=
c.594C= (p.Val198=)
c.837C= (p.Val279=)
c.591C= (p.Val197=)
c.843C= (p.Val281=)
n.1014C=
15g.43252781G>TCA490131443TGM5c.840C>A (p.Val280=)
n.309C>A
c.594C>A (p.Val198=)
c.837C>A (p.Val279=)
c.591C>A (p.Val197=)
c.843C>A (p.Val281=)
n.1014C>A
15g.43252782A>CCA392098925TGM5c.839T>G (p.Val280Gly)
n.308T>G
c.593T>G (p.Val198Gly)
c.836T>G (p.Val279Gly)
c.590T>G (p.Val197Gly)
c.842T>G (p.Val281Gly)
n.1013T>G
15g.43252782A>GCA392098923TGM5c.839T>C (p.Val280Ala)
n.308T>C
c.593T>C (p.Val198Ala)
c.836T>C (p.Val279Ala)
c.590T>C (p.Val197Ala)
c.842T>C (p.Val281Ala)
n.1013T>C
15g.43252782A>TCA392098920TGM5c.839T>A (p.Val280Asp)
n.308T>A
c.593T>A (p.Val198Asp)
c.836T>A (p.Val279Asp)
c.590T>A (p.Val197Asp)
c.842T>A (p.Val281Asp)
n.1013T>A
15g.43252783C>ACA392098927TGM5c.838G>T (p.Val280Phe)
n.307G>T
c.592G>T (p.Val198Phe)
c.835G>T (p.Val279Phe)
c.589G>T (p.Val197Phe)
c.841G>T (p.Val281Phe)
n.1012G>T
15g.43252783C>GCA392098930TGM5c.838G>C (p.Val280Leu)
n.307G>C
c.592G>C (p.Val198Leu)
c.835G>C (p.Val279Leu)
c.589G>C (p.Val197Leu)
c.841G>C (p.Val281Leu)
n.1012G>C
15g.43252783C>TCA392098932TGM5c.838G>A (p.Val280Ile)
n.307G>A
c.592G>A (p.Val198Ile)
c.835G>A (p.Val279Ile)
c.589G>A (p.Val197Ile)
c.841G>A (p.Val281Ile)
n.1012G>A
 gnomAD v4 COSMIC
15g.43252784C>ACA392098934TGM5c.837G>T (p.Trp279Cys)
n.306G>T
c.591G>T (p.Trp197Cys)
c.834G>T (p.Trp278Cys)
c.588G>T (p.Trp196Cys)
c.840G>T (p.Trp280Cys)
n.1011G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.43252784C=CA2173102611TGM5c.837G= (p.Trp279=)
n.306G=
c.591G= (p.Trp197=)
c.834G= (p.Trp278=)
c.588G= (p.Trp196=)
c.840G= (p.Trp280=)
n.1011G=
15g.43252784C>GCA392098936TGM5c.837G>C (p.Trp279Cys)
n.306G>C
c.591G>C (p.Trp197Cys)
c.834G>C (p.Trp278Cys)
c.588G>C (p.Trp196Cys)
c.840G>C (p.Trp280Cys)
n.1011G>C
15g.43252784C>TCA392098939TGM5c.837G>A (p.Trp279Ter)
n.306G>A
c.591G>A (p.Trp197Ter)
c.834G>A (p.Trp278Ter)
c.588G>A (p.Trp196Ter)
c.840G>A (p.Trp280Ter)
n.1011G>A
15g.43252785C>ACA392098942TGM5c.836G>T (p.Trp279Leu)
n.305G>T
c.590G>T (p.Trp197Leu)
c.833G>T (p.Trp278Leu)
c.587G>T (p.Trp196Leu)
c.839G>T (p.Trp280Leu)
n.1010G>T
15g.43252785C>GCA392098944TGM5c.836G>C (p.Trp279Ser)
n.305G>C
c.590G>C (p.Trp197Ser)
c.833G>C (p.Trp278Ser)
c.587G>C (p.Trp196Ser)
c.839G>C (p.Trp280Ser)
n.1010G>C
15g.43252785C>TCA392098947TGM5c.836G>A (p.Trp279Ter)
n.305G>A
c.590G>A (p.Trp197Ter)
c.833G>A (p.Trp278Ter)
c.587G>A (p.Trp196Ter)
c.839G>A (p.Trp280Ter)
n.1010G>A
15g.43252786A=CA2173102612TGM5c.835T= (p.Trp279=)
n.304T=
c.589T= (p.Trp197=)
c.832T= (p.Trp278=)
c.586T= (p.Trp196=)
c.838T= (p.Trp280=)
n.1009T=
15g.43252786A>CCA392098950TGM5c.835T>G (p.Trp279Gly)
n.304T>G
c.589T>G (p.Trp197Gly)
c.832T>G (p.Trp278Gly)
c.586T>G (p.Trp196Gly)
c.838T>G (p.Trp280Gly)
n.1009T>G
15g.43252786A>GCA7521192TGM5c.835T>C (p.Trp279Arg)
n.304T>C
c.589T>C (p.Trp197Arg)
c.832T>C (p.Trp278Arg)
c.586T>C (p.Trp196Arg)
c.838T>C (p.Trp280Arg)
n.1009T>C
 dbSNP ExAC gnomAD v2
15g.43252786A>TCA392098953TGM5c.835T>A (p.Trp279Arg)
n.304T>A
c.589T>A (p.Trp197Arg)
c.832T>A (p.Trp278Arg)
c.586T>A (p.Trp196Arg)
c.838T>A (p.Trp280Arg)
n.1009T>A
15g.43252787G>ACA490131446TGM5c.834C>T (p.Cys278=)
n.303C>T
c.588C>T (p.Cys196=)
c.831C>T (p.Cys277=)
c.585C>T (p.Cys195=)
c.837C>T (p.Cys279=)
n.1008C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.43252787G>CCA392098959TGM5c.834C>G (p.Cys278Trp)
n.303C>G
c.588C>G (p.Cys196Trp)
c.831C>G (p.Cys277Trp)
c.585C>G (p.Cys195Trp)
c.837C>G (p.Cys279Trp)
n.1008C>G
15g.43252787G=CA2173102614TGM5c.834C= (p.Cys278=)
n.303C=
c.588C= (p.Cys196=)
c.831C= (p.Cys277=)
c.585C= (p.Cys195=)
c.837C= (p.Cys279=)
n.1008C=
15g.43252787G>TCA392098956TGM5c.834C>A (p.Cys278Ter)
n.303C>A
c.588C>A (p.Cys196Ter)
c.831C>A (p.Cys277Ter)
c.585C>A (p.Cys195Ter)
c.837C>A (p.Cys279Ter)
n.1008C>A
15g.43252787_43252788delinsGCCA2173102613TGM5c.833_834delinsGC (p.Cys278=)
n.302_303delinsGC
c.587_588delinsGC (p.Cys196=)
c.830_831delinsGC (p.Cys277=)
c.584_585delinsGC (p.Cys195=)
c.836_837delinsGC (p.Cys279=)
n.1007_1008delinsGC
15g.43252788delCA7521193TGM5c.833del (p.Cys278SerfsTer11)
n.302del
c.587del (p.Cys196SerfsTer11)
c.830del (p.Cys277SerfsTer11)
c.584del (p.Cys195SerfsTer11)
c.836del (p.Cys279SerfsTer11)
n.1007del
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.43252788C>ACA392098961TGM5c.833G>T (p.Cys278Phe)
n.302G>T
c.587G>T (p.Cys196Phe)
c.830G>T (p.Cys277Phe)
c.584G>T (p.Cys195Phe)
c.836G>T (p.Cys279Phe)
n.1007G>T
15g.43252788C>GCA392098964TGM5c.833G>C (p.Cys278Ser)
n.302G>C
c.587G>C (p.Cys196Ser)
c.830G>C (p.Cys277Ser)
c.584G>C (p.Cys195Ser)
c.836G>C (p.Cys279Ser)
n.1007G>C
15g.43252788C>TCA392098966TGM5c.833G>A (p.Cys278Tyr)
n.302G>A
c.587G>A (p.Cys196Tyr)
c.830G>A (p.Cys277Tyr)
c.584G>A (p.Cys195Tyr)
c.836G>A (p.Cys279Tyr)
n.1007G>A
15g.43252789A>CCA392098971TGM5c.832T>G (p.Cys278Gly)
n.301T>G
c.586T>G (p.Cys196Gly)
c.829T>G (p.Cys277Gly)
c.583T>G (p.Cys195Gly)
c.835T>G (p.Cys279Gly)
n.1006T>G
15g.43252789A>GCA392098973TGM5c.832T>C (p.Cys278Arg)
n.301T>C
c.586T>C (p.Cys196Arg)
c.829T>C (p.Cys277Arg)
c.583T>C (p.Cys195Arg)
c.835T>C (p.Cys279Arg)
n.1006T>C
15g.43252789A>TCA392098975TGM5c.832T>A (p.Cys278Ser)
n.301T>A
c.586T>A (p.Cys196Ser)
c.829T>A (p.Cys277Ser)
c.583T>A (p.Cys195Ser)
c.835T>A (p.Cys279Ser)
n.1006T>A
15g.43252790T>ACA392098978TGM5c.831A>T (p.Gln277His)
n.300A>T
c.585A>T (p.Gln195His)
c.828A>T (p.Gln276His)
c.582A>T (p.Gln194His)
c.834A>T (p.Gln278His)
n.1005A>T
 gnomAD v4
15g.43252790T>CCA490131447TGM5c.831A>G (p.Gln277=)
n.300A>G
c.585A>G (p.Gln195=)
c.828A>G (p.Gln276=)
c.582A>G (p.Gln194=)
c.834A>G (p.Gln278=)
n.1005A>G
 gnomAD v4
15g.43252790T>GCA392098980TGM5c.831A>C (p.Gln277His)
n.300A>C
c.585A>C (p.Gln195His)
c.828A>C (p.Gln276His)
c.582A>C (p.Gln194His)
c.834A>C (p.Gln278His)
n.1005A>C
15g.43252791T>ACA392098984TGM5c.830A>T (p.Gln277Leu)
n.299A>T
c.584A>T (p.Gln195Leu)
c.827A>T (p.Gln276Leu)
c.581A>T (p.Gln194Leu)
c.833A>T (p.Gln278Leu)
n.1004A>T
15g.43252791T>CCA392098986TGM5c.830A>G (p.Gln277Arg)
n.299A>G
c.584A>G (p.Gln195Arg)
c.827A>G (p.Gln276Arg)
c.581A>G (p.Gln194Arg)
c.833A>G (p.Gln278Arg)
n.1004A>G
15g.43252791T>GCA392098988TGM5c.830A>C (p.Gln277Pro)
n.299A>C
c.584A>C (p.Gln195Pro)
c.827A>C (p.Gln276Pro)
c.581A>C (p.Gln194Pro)
c.833A>C (p.Gln278Pro)
n.1004A>C
15g.43252792G>ACA269975213TGM5c.829C>T (p.Gln277Ter)
n.298C>T
c.583C>T (p.Gln195Ter)
c.826C>T (p.Gln276Ter)
c.580C>T (p.Gln194Ter)
c.832C>T (p.Gln278Ter)
n.1003C>T
 ClinVar dbSNP gnomAD v4
15g.43252792G>CCA392098992TGM5c.829C>G (p.Gln277Glu)
n.298C>G
c.583C>G (p.Gln195Glu)
c.826C>G (p.Gln276Glu)
c.580C>G (p.Gln194Glu)
c.832C>G (p.Gln278Glu)
n.1003C>G
15g.43252792G=CA2173102615TGM5c.829C= (p.Gln277=)
n.298C=
c.583C= (p.Gln195=)
c.826C= (p.Gln276=)
c.580C= (p.Gln194=)
c.832C= (p.Gln278=)
n.1003C=
15g.43252792G>TCA392098989TGM5c.829C>A (p.Gln277Lys)
n.298C>A
c.583C>A (p.Gln195Lys)
c.826C>A (p.Gln276Lys)
c.580C>A (p.Gln194Lys)
c.832C>A (p.Gln278Lys)
n.1003C>A
 dbSNP
15g.43252793C>ACA490131448TGM5c.828G>T (p.Gly276=)
n.297G>T
c.582G>T (p.Gly194=)
c.825G>T (p.Gly275=)
c.579G>T (p.Gly193=)
c.831G>T (p.Gly277=)
n.1002G>T
 gnomAD v4
15g.43252793C=CA2173102616TGM5c.828G= (p.Gly276=)
n.297G=
c.582G= (p.Gly194=)
c.825G= (p.Gly275=)
c.579G= (p.Gly193=)
c.831G= (p.Gly277=)
n.1002G=
15g.43252793C>GCA490131449TGM5c.828G>C (p.Gly276=)
n.297G>C
c.582G>C (p.Gly194=)
c.825G>C (p.Gly275=)
c.579G>C (p.Gly193=)
c.831G>C (p.Gly277=)
n.1002G>C
15g.43252793C>TCA490131450TGM5c.828G>A (p.Gly276=)
n.297G>A
c.582G>A (p.Gly194=)
c.825G>A (p.Gly275=)
c.579G>A (p.Gly193=)
c.831G>A (p.Gly277=)
n.1002G>A
 dbSNP gnomAD v2 gnomAD v4
15g.43252794C>ACA392098997TGM5c.827G>T (p.Gly276Val)
n.296G>T
c.581G>T (p.Gly194Val)
c.824G>T (p.Gly275Val)
c.578G>T (p.Gly193Val)
c.830G>T (p.Gly277Val)
n.1001G>T
15g.43252794C>GCA392099002TGM5c.827G>C (p.Gly276Ala)
n.296G>C
c.581G>C (p.Gly194Ala)
c.824G>C (p.Gly275Ala)
c.578G>C (p.Gly193Ala)
c.830G>C (p.Gly277Ala)
n.1001G>C
15g.43252794C>TCA392099000TGM5c.827G>A (p.Gly276Glu)
n.296G>A
c.581G>A (p.Gly194Glu)
c.824G>A (p.Gly275Glu)
c.578G>A (p.Gly193Glu)
c.830G>A (p.Gly277Glu)
n.1001G>A
15g.43252795C>ACA392099005TGM5c.826G>T (p.Gly276Trp)
n.295G>T
c.580G>T (p.Gly194Trp)
c.823G>T (p.Gly275Trp)
c.577G>T (p.Gly193Trp)
c.829G>T (p.Gly277Trp)
n.1000G>T
15g.43252795C=CA2173102617TGM5c.826G= (p.Gly276=)
n.295G=
c.580G= (p.Gly194=)
c.823G= (p.Gly275=)
c.577G= (p.Gly193=)
c.829G= (p.Gly277=)
n.1000G=
15g.43252795C>GCA392099009TGM5c.826G>C (p.Gly276Arg)
n.295G>C
c.580G>C (p.Gly194Arg)
c.823G>C (p.Gly275Arg)
c.577G>C (p.Gly193Arg)
c.829G>C (p.Gly277Arg)
n.1000G>C
15g.43252795C>TCA392099007TGM5c.826G>A (p.Gly276Arg)
n.295G>A
c.580G>A (p.Gly194Arg)
c.823G>A (p.Gly275Arg)
c.577G>A (p.Gly193Arg)
c.829G>A (p.Gly277Arg)
n.1000G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.43252796G>ACA7521194TGM5c.825C>T (p.Tyr275=)
n.294C>T
c.579C>T (p.Tyr193=)
c.822C>T (p.Tyr274=)
c.576C>T (p.Tyr192=)
c.828C>T (p.Tyr276=)
n.999C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252796G>CCA392099011TGM5c.825C>G (p.Tyr275Ter)
n.294C>G
c.579C>G (p.Tyr193Ter)
c.822C>G (p.Tyr274Ter)
c.576C>G (p.Tyr192Ter)
c.828C>G (p.Tyr276Ter)
n.999C>G
15g.43252796G=CA2173102618TGM5c.825C= (p.Tyr275=)
n.294C=
c.579C= (p.Tyr193=)
c.822C= (p.Tyr274=)
c.576C= (p.Tyr192=)
c.828C= (p.Tyr276=)
n.999C=
15g.43252796G>TCA392099014TGM5c.825C>A (p.Tyr275Ter)
n.294C>A
c.579C>A (p.Tyr193Ter)
c.822C>A (p.Tyr274Ter)
c.576C>A (p.Tyr192Ter)
c.828C>A (p.Tyr276Ter)
n.999C>A
15g.43252797T>ACA392099016TGM5c.824A>T (p.Tyr275Phe)
n.293A>T
c.578A>T (p.Tyr193Phe)
c.821A>T (p.Tyr274Phe)
c.575A>T (p.Tyr192Phe)
c.827A>T (p.Tyr276Phe)
n.998A>T
15g.43252797T>CCA392099018TGM5c.824A>G (p.Tyr275Cys)
n.293A>G
c.578A>G (p.Tyr193Cys)
c.821A>G (p.Tyr274Cys)
c.575A>G (p.Tyr192Cys)
c.827A>G (p.Tyr276Cys)
n.998A>G
15g.43252797T>GCA392099020TGM5c.824A>C (p.Tyr275Ser)
n.293A>C
c.578A>C (p.Tyr193Ser)
c.821A>C (p.Tyr274Ser)
c.575A>C (p.Tyr192Ser)
c.827A>C (p.Tyr276Ser)
n.998A>C
15g.43252798A>CCA392099023TGM5c.823T>G (p.Tyr275Asp)
n.292T>G
c.577T>G (p.Tyr193Asp)
c.820T>G (p.Tyr274Asp)
c.574T>G (p.Tyr192Asp)
c.826T>G (p.Tyr276Asp)
n.997T>G
15g.43252798A>GCA392099025TGM5c.823T>C (p.Tyr275His)
n.292T>C
c.577T>C (p.Tyr193His)
c.820T>C (p.Tyr274His)
c.574T>C (p.Tyr192His)
c.826T>C (p.Tyr276His)
n.997T>C
15g.43252798A>TCA392099027TGM5c.823T>A (p.Tyr275Asn)
n.292T>A
c.577T>A (p.Tyr193Asn)
c.820T>A (p.Tyr274Asn)
c.574T>A (p.Tyr192Asn)
c.826T>A (p.Tyr276Asn)
n.997T>A
15g.43252799G>ACA490131451TGM5c.822C>T (p.Arg274=)
n.291C>T
c.576C>T (p.Arg192=)
c.819C>T (p.Arg273=)
c.573C>T (p.Arg191=)
c.825C>T (p.Arg275=)
n.996C>T
15g.43252799G>CCA490131453TGM5c.822C>G (p.Arg274=)
n.291C>G
c.576C>G (p.Arg192=)
c.819C>G (p.Arg273=)
c.573C>G (p.Arg191=)
c.825C>G (p.Arg275=)
n.996C>G
15g.43252799G>TCA490131452TGM5c.822C>A (p.Arg274=)
n.291C>A
c.576C>A (p.Arg192=)
c.819C>A (p.Arg273=)
c.573C>A (p.Arg191=)
c.825C>A (p.Arg275=)
n.996C>A
15g.43252800C>ACA7521196TGM5c.821G>T (p.Arg274Leu)
n.290G>T
c.575G>T (p.Arg192Leu)
c.818G>T (p.Arg273Leu)
c.572G>T (p.Arg191Leu)
c.824G>T (p.Arg275Leu)
n.995G>T
 dbSNP ExAC gnomAD v4
15g.43252800C=CA2173102619TGM5c.821G= (p.Arg274=)
n.290G=
c.575G= (p.Arg192=)
c.818G= (p.Arg273=)
c.572G= (p.Arg191=)
c.824G= (p.Arg275=)
n.995G=
15g.43252800C>GCA392099032TGM5c.821G>C (p.Arg274Pro)
n.290G>C
c.575G>C (p.Arg192Pro)
c.818G>C (p.Arg273Pro)
c.572G>C (p.Arg191Pro)
c.824G>C (p.Arg275Pro)
n.995G>C
15g.43252800C>TCA7521195TGM5c.821G>A (p.Arg274His)
n.290G>A
c.575G>A (p.Arg192His)
c.818G>A (p.Arg273His)
c.572G>A (p.Arg191His)
c.824G>A (p.Arg275His)
n.995G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252801G>ACA7521198TGM5c.820C>T (p.Arg274Cys)
n.289C>T
c.574C>T (p.Arg192Cys)
c.817C>T (p.Arg273Cys)
c.571C>T (p.Arg191Cys)
c.823C>T (p.Arg275Cys)
n.994C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.43252801G>CCA392099038TGM5c.820C>G (p.Arg274Gly)
n.289C>G
c.574C>G (p.Arg192Gly)
c.817C>G (p.Arg273Gly)
c.571C>G (p.Arg191Gly)
c.823C>G (p.Arg275Gly)
n.994C>G
15g.43252801G=CA2173102620TGM5c.820C= (p.Arg274=)
n.289C=
c.574C= (p.Arg192=)
c.817C= (p.Arg273=)
c.571C= (p.Arg191=)
c.823C= (p.Arg275=)
n.994C=
15g.43252801G>TCA7521197TGM5c.820C>A (p.Arg274Ser)
n.289C>A
c.574C>A (p.Arg192Ser)
c.817C>A (p.Arg273Ser)
c.571C>A (p.Arg191Ser)
c.823C>A (p.Arg275Ser)
n.994C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.43252802C>ACA490131454TGM5c.819G>T (p.Val273=)
n.288G>T
c.573G>T (p.Val191=)
c.816G>T (p.Val272=)
c.570G>T (p.Val190=)
c.822G>T (p.Val274=)
n.993G>T
15g.43252802C=CA2173102621TGM5c.819G= (p.Val273=)
n.288G=
c.573G= (p.Val191=)
c.816G= (p.Val272=)
c.570G= (p.Val190=)
c.822G= (p.Val274=)
n.993G=
15g.43252802C>GCA490131455TGM5c.819G>C (p.Val273=)
n.288G>C
c.573G>C (p.Val191=)
c.816G>C (p.Val272=)
c.570G>C (p.Val190=)
c.822G>C (p.Val274=)
n.993G>C
 dbSNP gnomAD v2 gnomAD v4
15g.43252802C>TCA490131456TGM5c.819G>A (p.Val273=)
n.288G>A
c.573G>A (p.Val191=)
c.816G>A (p.Val272=)
c.570G>A (p.Val190=)
c.822G>A (p.Val274=)
n.993G>A
 dbSNP gnomAD v4
15g.43252803A=CA2173102622TGM5c.818T= (p.Val273=)
n.287T=
c.572T= (p.Val191=)
c.815T= (p.Val272=)
c.569T= (p.Val190=)
c.821T= (p.Val274=)
n.992T=
15g.43252803A>CCA392099040TGM5c.818T>G (p.Val273Gly)
n.287T>G
c.572T>G (p.Val191Gly)
c.815T>G (p.Val272Gly)
c.569T>G (p.Val190Gly)
c.821T>G (p.Val274Gly)
n.992T>G
 gnomAD v4
15g.43252803A>GCA392099041TGM5c.818T>C (p.Val273Ala)
n.287T>C
c.572T>C (p.Val191Ala)
c.815T>C (p.Val272Ala)
c.569T>C (p.Val190Ala)
c.821T>C (p.Val274Ala)
n.992T>C
 dbSNP gnomAD v3 gnomAD v4
15g.43252803A>TCA392099044TGM5c.818T>A (p.Val273Glu)
n.287T>A
c.572T>A (p.Val191Glu)
c.815T>A (p.Val272Glu)
c.569T>A (p.Val190Glu)
c.821T>A (p.Val274Glu)
n.992T>A
 dbSNP gnomAD v4
15g.43252804C>ACA392099047TGM5c.817G>T (p.Val273Leu)
n.286G>T
c.571G>T (p.Val191Leu)
c.814G>T (p.Val272Leu)
c.568G>T (p.Val190Leu)
c.820G>T (p.Val274Leu)
n.991G>T
15g.43252804C=CA2173102623TGM5c.817G= (p.Val273=)
n.286G=
c.571G= (p.Val191=)
c.814G= (p.Val272=)
c.568G= (p.Val190=)
c.820G= (p.Val274=)
n.991G=
15g.43252804C>GCA7521200TGM5c.817G>C (p.Val273Leu)
n.286G>C
c.571G>C (p.Val191Leu)
c.814G>C (p.Val272Leu)
c.568G>C (p.Val190Leu)
c.820G>C (p.Val274Leu)
n.991G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252804C>TCA7521199TGM5c.817G>A (p.Val273Met)
n.286G>A
c.571G>A (p.Val191Met)
c.814G>A (p.Val272Met)
c.568G>A (p.Val190Met)
c.820G>A (p.Val274Met)
n.991G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252804_43252805delinsCGCA2173102624TGM5c.816_817delinsCG (p.Pro272=)
n.285_286delinsCG
c.570_571delinsCG (p.Pro190=)
c.813_814delinsCG (p.Pro271=)
c.567_568delinsCG (p.Pro189=)
c.819_820delinsCG (p.Pro273=)
n.990_991delinsCG
15g.43252805G>ACA7521202TGM5c.816C>T (p.Pro272=)
n.285C>T
c.570C>T (p.Pro190=)
c.813C>T (p.Pro271=)
c.567C>T (p.Pro189=)
c.819C>T (p.Pro273=)
n.990C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252805G>CCA490131457TGM5c.816C>G (p.Pro272=)
n.285C>G
c.570C>G (p.Pro190=)
c.813C>G (p.Pro271=)
c.567C>G (p.Pro189=)
c.819C>G (p.Pro273=)
n.990C>G
15g.43252805G=CA2173102625TGM5c.816C= (p.Pro272=)
n.285C=
c.570C= (p.Pro190=)
c.813C= (p.Pro271=)
c.567C= (p.Pro189=)
c.819C= (p.Pro273=)
n.990C=
15g.43252805G>TCA490131458TGM5c.816C>A (p.Pro272=)
n.285C>A
c.570C>A (p.Pro190=)
c.813C>A (p.Pro271=)
c.567C>A (p.Pro189=)
c.819C>A (p.Pro273=)
n.990C>A
15g.43252807delCA7521201TGM5c.816del (p.Val273CysfsTer16)
n.285del
c.570del (p.Val191CysfsTer16)
c.813del (p.Val272CysfsTer16)
c.567del (p.Val190CysfsTer16)
c.819del (p.Val274CysfsTer16)
n.990del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252806G>ACA392099064TGM5c.815C>T (p.Pro272Leu)
n.284C>T
c.569C>T (p.Pro190Leu)
c.812C>T (p.Pro271Leu)
c.566C>T (p.Pro189Leu)
c.818C>T (p.Pro273Leu)
n.989C>T
15g.43252806G>CCA392099066TGM5c.815C>G (p.Pro272Arg)
n.284C>G
c.569C>G (p.Pro190Arg)
c.812C>G (p.Pro271Arg)
c.566C>G (p.Pro189Arg)
c.818C>G (p.Pro273Arg)
n.989C>G
15g.43252806G>TCA392099062TGM5c.815C>A (p.Pro272His)
n.284C>A
c.569C>A (p.Pro190His)
c.812C>A (p.Pro271His)
c.566C>A (p.Pro189His)
c.818C>A (p.Pro273His)
n.989C>A
15g.43252807G>ACA392099070TGM5c.814C>T (p.Pro272Ser)
n.283C>T
c.568C>T (p.Pro190Ser)
c.811C>T (p.Pro271Ser)
c.565C>T (p.Pro189Ser)
c.817C>T (p.Pro273Ser)
n.988C>T
 gnomAD v4
15g.43252807G>CCA392099071TGM5c.814C>G (p.Pro272Ala)
n.283C>G
c.568C>G (p.Pro190Ala)
c.811C>G (p.Pro271Ala)
c.565C>G (p.Pro189Ala)
c.817C>G (p.Pro273Ala)
n.988C>G
15g.43252807G>TCA392099073TGM5c.814C>A (p.Pro272Thr)
n.283C>A
c.568C>A (p.Pro190Thr)
c.811C>A (p.Pro271Thr)
c.565C>A (p.Pro189Thr)
c.817C>A (p.Pro273Thr)
n.988C>A
15g.43252808C>ACA392099076TGM5c.813G>T (p.Gln271His)
n.282G>T
c.567G>T (p.Gln189His)
c.810G>T (p.Gln270His)
c.564G>T (p.Gln188His)
c.816G>T (p.Gln272His)
n.987G>T
15g.43252808C>GCA392099079TGM5c.813G>C (p.Gln271His)
n.282G>C
c.567G>C (p.Gln189His)
c.810G>C (p.Gln270His)
c.564G>C (p.Gln188His)
c.816G>C (p.Gln272His)
n.987G>C
15g.43252808C>TCA490131459TGM5c.813G>A (p.Gln271=)
n.282G>A
c.567G>A (p.Gln189=)
c.810G>A (p.Gln270=)
c.564G>A (p.Gln188=)
c.816G>A (p.Gln272=)
n.987G>A
 gnomAD v4
15g.43252809T>ACA392099081TGM5c.812A>T (p.Gln271Leu)
n.281A>T
c.566A>T (p.Gln189Leu)
c.809A>T (p.Gln270Leu)
c.563A>T (p.Gln188Leu)
c.815A>T (p.Gln272Leu)
n.986A>T
15g.43252809T>CCA392099084TGM5c.812A>G (p.Gln271Arg)
n.281A>G
c.566A>G (p.Gln189Arg)
c.809A>G (p.Gln270Arg)
c.563A>G (p.Gln188Arg)
c.815A>G (p.Gln272Arg)
n.986A>G
15g.43252809T>GCA392099086TGM5c.812A>C (p.Gln271Pro)
n.281A>C
c.566A>C (p.Gln189Pro)
c.809A>C (p.Gln270Pro)
c.563A>C (p.Gln188Pro)
c.815A>C (p.Gln272Pro)
n.986A>C
15g.43252810G>ACA392099089TGM5c.811C>T (p.Gln271Ter)
n.280C>T
c.565C>T (p.Gln189Ter)
c.808C>T (p.Gln270Ter)
c.562C>T (p.Gln188Ter)
c.814C>T (p.Gln272Ter)
n.985C>T
15g.43252810G>CCA392099091TGM5c.811C>G (p.Gln271Glu)
n.280C>G
c.565C>G (p.Gln189Glu)
c.808C>G (p.Gln270Glu)
c.562C>G (p.Gln188Glu)
c.814C>G (p.Gln272Glu)
n.985C>G
15g.43252810G>TCA392099092TGM5c.811C>A (p.Gln271Lys)
n.280C>A
c.565C>A (p.Gln189Lys)
c.808C>A (p.Gln270Lys)
c.562C>A (p.Gln188Lys)
c.814C>A (p.Gln272Lys)
n.985C>A
15g.43252811G>ACA7521203TGM5c.810C>T (p.Cys270=)
n.279C>T
c.564C>T (p.Cys188=)
c.807C>T (p.Cys269=)
c.561C>T (p.Cys187=)
c.813C>T (p.Cys271=)
n.984C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252811G>CCA392099095TGM5c.810C>G (p.Cys270Trp)
n.279C>G
c.564C>G (p.Cys188Trp)
c.807C>G (p.Cys269Trp)
c.561C>G (p.Cys187Trp)
c.813C>G (p.Cys271Trp)
n.984C>G
15g.43252811G=CA2173102626TGM5c.810C= (p.Cys270=)
n.279C=
c.564C= (p.Cys188=)
c.807C= (p.Cys269=)
c.561C= (p.Cys187=)
c.813C= (p.Cys271=)
n.984C=
15g.43252811G>TCA392099097TGM5c.810C>A (p.Cys270Ter)
n.279C>A
c.564C>A (p.Cys188Ter)
c.807C>A (p.Cys269Ter)
c.561C>A (p.Cys187Ter)
c.813C>A (p.Cys271Ter)
n.984C>A
15g.43252812C>ACA392099100TGM5c.809G>T (p.Cys270Phe)
n.278G>T
c.563G>T (p.Cys188Phe)
c.806G>T (p.Cys269Phe)
c.560G>T (p.Cys187Phe)
c.812G>T (p.Cys271Phe)
n.983G>T
15g.43252812C>GCA392099102TGM5c.809G>C (p.Cys270Ser)
n.278G>C
c.563G>C (p.Cys188Ser)
c.806G>C (p.Cys269Ser)
c.560G>C (p.Cys187Ser)
c.812G>C (p.Cys271Ser)
n.983G>C
15g.43252812C>TCA392099104TGM5c.809G>A (p.Cys270Tyr)
n.278G>A
c.563G>A (p.Cys188Tyr)
c.806G>A (p.Cys269Tyr)
c.560G>A (p.Cys187Tyr)
c.812G>A (p.Cys271Tyr)
n.983G>A
 gnomAD v4
15g.43252812_43252813delCA2573054006TGM5c.808_809del (p.Cys270ProfsTer?)
n.277_278del
c.562_563del (p.Cys188ProfsTer?)
c.805_806del (p.Cys269ProfsTer?)
c.559_560del (p.Cys187ProfsTer?)
c.811_812del (p.Cys271ProfsTer?)
n.982_983del
 dbSNP
15g.43252813A>CCA392099108TGM5c.808T>G (p.Cys270Gly)
n.277T>G
c.562T>G (p.Cys188Gly)
c.805T>G (p.Cys269Gly)
c.559T>G (p.Cys187Gly)
c.811T>G (p.Cys271Gly)
n.982T>G
 gnomAD v4
15g.43252813A>GCA392099110TGM5c.808T>C (p.Cys270Arg)
n.277T>C
c.562T>C (p.Cys188Arg)
c.805T>C (p.Cys269Arg)
c.559T>C (p.Cys187Arg)
c.811T>C (p.Cys271Arg)
n.982T>C
15g.43252813A>TCA392099112TGM5c.808T>A (p.Cys270Ser)
n.277T>A
c.562T>A (p.Cys188Ser)
c.805T>A (p.Cys269Ser)
c.559T>A (p.Cys187Ser)
c.811T>A (p.Cys271Ser)
n.982T>A
15g.43252814G>ACA490131462TGM5c.807C>T (p.Gly269=)
n.276C>T
c.561C>T (p.Gly187=)
c.804C>T (p.Gly268=)
c.558C>T (p.Gly186=)
c.810C>T (p.Gly270=)
n.981C>T
15g.43252814G>CCA490131460TGM5c.807C>G (p.Gly269=)
n.276C>G
c.561C>G (p.Gly187=)
c.804C>G (p.Gly268=)
c.558C>G (p.Gly186=)
c.810C>G (p.Gly270=)
n.981C>G
 gnomAD v4
15g.43252814G>TCA490131461TGM5c.807C>A (p.Gly269=)
n.276C>A
c.561C>A (p.Gly187=)
c.804C>A (p.Gly268=)
c.558C>A (p.Gly186=)
c.810C>A (p.Gly270=)
n.981C>A
15g.43252815C>ACA392099116TGM5c.806G>T (p.Gly269Val)
n.275G>T
c.560G>T (p.Gly187Val)
c.803G>T (p.Gly268Val)
c.557G>T (p.Gly186Val)
c.809G>T (p.Gly270Val)
n.980G>T
15g.43252815C=CA2173102627TGM5c.806G= (p.Gly269=)
n.275G=
c.560G= (p.Gly187=)
c.803G= (p.Gly268=)
c.557G= (p.Gly186=)
c.809G= (p.Gly270=)
n.980G=
15g.43252815C>GCA392099118TGM5c.806G>C (p.Gly269Ala)
n.275G>C
c.560G>C (p.Gly187Ala)
c.803G>C (p.Gly268Ala)
c.557G>C (p.Gly186Ala)
c.809G>C (p.Gly270Ala)
n.980G>C
15g.43252815C>TCA392099119TGM5c.806G>A (p.Gly269Asp)
n.275G>A
c.560G>A (p.Gly187Asp)
c.803G>A (p.Gly268Asp)
c.557G>A (p.Gly186Asp)
c.809G>A (p.Gly270Asp)
n.980G>A
 dbSNP gnomAD v3 gnomAD v4
15g.43252816C>ACA392099122TGM5c.805G>T (p.Gly269Cys)
n.274G>T
c.559G>T (p.Gly187Cys)
c.802G>T (p.Gly268Cys)
c.556G>T (p.Gly186Cys)
c.808G>T (p.Gly270Cys)
n.979G>T
15g.43252816C=CA2173102628TGM5c.805G= (p.Gly269=)
n.274G=
c.559G= (p.Gly187=)
c.802G= (p.Gly268=)
c.556G= (p.Gly186=)
c.808G= (p.Gly270=)
n.979G=
15g.43252816C>GCA392099124TGM5c.805G>C (p.Gly269Arg)
n.274G>C
c.559G>C (p.Gly187Arg)
c.802G>C (p.Gly268Arg)
c.556G>C (p.Gly186Arg)
c.808G>C (p.Gly270Arg)
n.979G>C
15g.43252816C>TCA7521204TGM5c.805G>A (p.Gly269Ser)
n.274G>A
c.559G>A (p.Gly187Ser)
c.802G>A (p.Gly268Ser)
c.556G>A (p.Gly186Ser)
c.808G>A (p.Gly270Ser)
n.979G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.43252817T>ACA490131463TGM5c.804A>T (p.Thr268=)
n.273A>T
c.558A>T (p.Thr186=)
c.801A>T (p.Thr267=)
c.555A>T (p.Thr185=)
c.807A>T (p.Thr269=)
n.978A>T
15g.43252817T>CCA490131464TGM5c.804A>G (p.Thr268=)
n.273A>G
c.558A>G (p.Thr186=)
c.801A>G (p.Thr267=)
c.555A>G (p.Thr185=)
c.807A>G (p.Thr269=)
n.978A>G
 dbSNP
15g.43252817T>GCA490131465TGM5c.804A>C (p.Thr268=)
n.273A>C
c.558A>C (p.Thr186=)
c.801A>C (p.Thr267=)
c.555A>C (p.Thr185=)
c.807A>C (p.Thr269=)
n.978A>C
15g.43252817T=CA2173102629TGM5c.804A= (p.Thr268=)
n.273A=
c.558A= (p.Thr186=)
c.801A= (p.Thr267=)
c.555A= (p.Thr185=)
c.807A= (p.Thr269=)
n.978A=
15g.43252818G>ACA392099130TGM5c.803C>T (p.Thr268Ile)
n.272C>T
c.557C>T (p.Thr186Ile)
c.800C>T (p.Thr267Ile)
c.554C>T (p.Thr185Ile)
c.806C>T (p.Thr269Ile)
n.977C>T
 dbSNP gnomAD v2 gnomAD v4
15g.43252818G>CCA392099133TGM5c.803C>G (p.Thr268Arg)
n.272C>G
c.557C>G (p.Thr186Arg)
c.800C>G (p.Thr267Arg)
c.554C>G (p.Thr185Arg)
c.806C>G (p.Thr269Arg)
n.977C>G
15g.43252818G=CA2173102630TGM5c.803C= (p.Thr268=)
n.272C=
c.557C= (p.Thr186=)
c.800C= (p.Thr267=)
c.554C= (p.Thr185=)
c.806C= (p.Thr269=)
n.977C=
15g.43252818G>TCA392099128TGM5c.803C>A (p.Thr268Lys)
n.272C>A
c.557C>A (p.Thr186Lys)
c.800C>A (p.Thr267Lys)
c.554C>A (p.Thr185Lys)
c.806C>A (p.Thr269Lys)
n.977C>A
 dbSNP gnomAD v3 gnomAD v4
15g.43252819T>ACA392099139TGM5c.802A>T (p.Thr268Ser)
n.271A>T
c.556A>T (p.Thr186Ser)
c.799A>T (p.Thr267Ser)
c.553A>T (p.Thr185Ser)
c.805A>T (p.Thr269Ser)
n.976A>T
15g.43252819T>CCA392099135TGM5c.802A>G (p.Thr268Ala)
n.271A>G
c.556A>G (p.Thr186Ala)
c.799A>G (p.Thr267Ala)
c.553A>G (p.Thr185Ala)
c.805A>G (p.Thr269Ala)
n.976A>G
15g.43252819T>GCA392099137TGM5c.802A>C (p.Thr268Pro)
n.271A>C
c.556A>C (p.Thr186Pro)
c.799A>C (p.Thr267Pro)
c.553A>C (p.Thr185Pro)
c.805A>C (p.Thr269Pro)
n.976A>C
15g.43252820G>ACA490131466TGM5c.801C>T (p.Ala267=)
n.270C>T
c.555C>T (p.Ala185=)
c.798C>T (p.Ala266=)
c.552C>T (p.Ala184=)
c.804C>T (p.Ala268=)
n.975C>T
15g.43252820G>CCA490131467TGM5c.801C>G (p.Ala267=)
n.270C>G
c.555C>G (p.Ala185=)
c.798C>G (p.Ala266=)
c.552C>G (p.Ala184=)
c.804C>G (p.Ala268=)
n.975C>G
15g.43252820G>TCA490131468TGM5c.801C>A (p.Ala267=)
n.270C>A
c.555C>A (p.Ala185=)
c.798C>A (p.Ala266=)
c.552C>A (p.Ala184=)
c.804C>A (p.Ala268=)
n.975C>A
15g.43252821G>ACA392099143TGM5c.800C>T (p.Ala267Val)
n.269C>T
c.554C>T (p.Ala185Val)
c.797C>T (p.Ala266Val)
c.551C>T (p.Ala184Val)
c.803C>T (p.Ala268Val)
n.974C>T
15g.43252821G>CCA392099145TGM5c.800C>G (p.Ala267Gly)
n.269C>G
c.554C>G (p.Ala185Gly)
c.797C>G (p.Ala266Gly)
c.551C>G (p.Ala184Gly)
c.803C>G (p.Ala268Gly)
n.974C>G
15g.43252821G>TCA392099147TGM5c.800C>A (p.Ala267Asp)
n.269C>A
c.554C>A (p.Ala185Asp)
c.797C>A (p.Ala266Asp)
c.551C>A (p.Ala184Asp)
c.803C>A (p.Ala268Asp)
n.974C>A
15g.43252822C>ACA392099153TGM5c.799G>T (p.Ala267Ser)
n.268G>T
c.553G>T (p.Ala185Ser)
c.796G>T (p.Ala266Ser)
c.550G>T (p.Ala184Ser)
c.802G>T (p.Ala268Ser)
n.973G>T
15g.43252822C=CA2173102631TGM5c.799G= (p.Ala267=)
n.268G=
c.553G= (p.Ala185=)
c.796G= (p.Ala266=)
c.550G= (p.Ala184=)
c.802G= (p.Ala268=)
n.973G=
15g.43252822C>GCA392099150TGM5c.799G>C (p.Ala267Pro)
n.268G>C
c.553G>C (p.Ala185Pro)
c.796G>C (p.Ala266Pro)
c.550G>C (p.Ala184Pro)
c.802G>C (p.Ala268Pro)
n.973G>C
15g.43252822C>TCA7521205TGM5c.799G>A (p.Ala267Thr)
n.268G>A
c.553G>A (p.Ala185Thr)
c.796G>A (p.Ala266Thr)
c.550G>A (p.Ala184Thr)
c.802G>A (p.Ala268Thr)
n.973G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
15g.43252823G>ACA7521206TGM5c.798C>T (p.Asn266=)
n.267C>T
c.552C>T (p.Asn184=)
c.795C>T (p.Asn265=)
c.549C>T (p.Asn183=)
c.801C>T (p.Asn267=)
n.972C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.43252823G>CCA392099157TGM5c.798C>G (p.Asn266Lys)
n.267C>G
c.552C>G (p.Asn184Lys)
c.795C>G (p.Asn265Lys)
c.549C>G (p.Asn183Lys)
c.801C>G (p.Asn267Lys)
n.972C>G
 gnomAD v4
15g.43252823G=CA2173102632TGM5c.798C= (p.Asn266=)
n.267C=
c.552C= (p.Asn184=)
c.795C= (p.Asn265=)
c.549C= (p.Asn183=)
c.801C= (p.Asn267=)
n.972C=
15g.43252823G>TCA392099159TGM5c.798C>A (p.Asn266Lys)
n.267C>A
c.552C>A (p.Asn184Lys)
c.795C>A (p.Asn265Lys)
c.549C>A (p.Asn183Lys)
c.801C>A (p.Asn267Lys)
n.972C>A
15g.43252824T>ACA392099162TGM5c.797A>T (p.Asn266Ile)
n.266A>T
c.551A>T (p.Asn184Ile)
c.794A>T (p.Asn265Ile)
c.548A>T (p.Asn183Ile)
c.800A>T (p.Asn267Ile)
n.971A>T
15g.43252824T>CCA392099165TGM5c.797A>G (p.Asn266Ser)
n.266A>G
c.551A>G (p.Asn184Ser)
c.794A>G (p.Asn265Ser)
c.548A>G (p.Asn183Ser)
c.800A>G (p.Asn267Ser)
n.971A>G
15g.43252824T>GCA392099167TGM5c.797A>C (p.Asn266Thr)
n.266A>C
c.551A>C (p.Asn184Thr)
c.794A>C (p.Asn265Thr)
c.548A>C (p.Asn183Thr)
c.800A>C (p.Asn267Thr)
n.971A>C
15g.43252825T>ACA392099170TGM5c.796A>T (p.Asn266Tyr)
n.265A>T
c.550A>T (p.Asn184Tyr)
c.793A>T (p.Asn265Tyr)
c.547A>T (p.Asn183Tyr)
c.799A>T (p.Asn267Tyr)
n.970A>T
15g.43252825T>CCA392099175TGM5c.796A>G (p.Asn266Asp)
n.265A>G
c.550A>G (p.Asn184Asp)
c.793A>G (p.Asn265Asp)
c.547A>G (p.Asn183Asp)
c.799A>G (p.Asn267Asp)
n.970A>G
15g.43252825T>GCA392099173TGM5c.796A>C (p.Asn266His)
n.265A>C
c.550A>C (p.Asn184His)
c.793A>C (p.Asn265His)
c.547A>C (p.Asn183His)
c.799A>C (p.Asn267His)
n.970A>C
15g.43252826C>ACA392099176TGM5c.795G>T (p.Trp265Cys)
n.264G>T
c.549G>T (p.Trp183Cys)
c.792G>T (p.Trp264Cys)
c.546G>T (p.Trp182Cys)
c.798G>T (p.Trp266Cys)
n.969G>T
15g.43252826C=CA2173102633TGM5c.795G= (p.Trp265=)
n.264G=
c.549G= (p.Trp183=)
c.792G= (p.Trp264=)
c.546G= (p.Trp182=)
c.798G= (p.Trp266=)
n.969G=
15g.43252826C>GCA392099179TGM5c.795G>C (p.Trp265Cys)
n.264G>C
c.549G>C (p.Trp183Cys)
c.792G>C (p.Trp264Cys)
c.546G>C (p.Trp182Cys)
c.798G>C (p.Trp266Cys)
n.969G>C
15g.43252826C>TCA269975286TGM5c.795G>A (p.Trp265Ter)
n.264G>A
c.549G>A (p.Trp183Ter)
c.792G>A (p.Trp264Ter)
c.546G>A (p.Trp182Ter)
c.798G>A (p.Trp266Ter)
n.969G>A
 dbSNP
15g.43252827C>ACA392099182TGM5c.794G>T (p.Trp265Leu)
n.263G>T
c.548G>T (p.Trp183Leu)
c.791G>T (p.Trp264Leu)
c.545G>T (p.Trp182Leu)
c.797G>T (p.Trp266Leu)
n.968G>T
15g.43252827C>GCA392099184TGM5c.794G>C (p.Trp265Ser)
n.263G>C
c.548G>C (p.Trp183Ser)
c.791G>C (p.Trp264Ser)
c.545G>C (p.Trp182Ser)
c.797G>C (p.Trp266Ser)
n.968G>C
15g.43252827C>TCA392099187TGM5c.794G>A (p.Trp265Ter)
n.263G>A
c.548G>A (p.Trp183Ter)
c.791G>A (p.Trp264Ter)
c.545G>A (p.Trp182Ter)
c.797G>A (p.Trp266Ter)
n.968G>A
 gnomAD v4
15g.43252828A>CCA392099190TGM5c.793T>G (p.Trp265Gly)
n.262T>G
c.547T>G (p.Trp183Gly)
c.790T>G (p.Trp264Gly)
c.544T>G (p.Trp182Gly)
c.796T>G (p.Trp266Gly)
n.967T>G
15g.43252828A>GCA392099192TGM5c.793T>C (p.Trp265Arg)
n.262T>C
c.547T>C (p.Trp183Arg)
c.790T>C (p.Trp264Arg)
c.544T>C (p.Trp182Arg)
c.796T>C (p.Trp266Arg)
n.967T>C
15g.43252828A>TCA392099194TGM5c.793T>A (p.Trp265Arg)
n.262T>A
c.547T>A (p.Trp183Arg)
c.790T>A (p.Trp264Arg)
c.544T>A (p.Trp182Arg)
c.796T>A (p.Trp266Arg)
n.967T>A

Number of alleles fetched