Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.45267485C>ACA392251767SLC28A2,SLC28A2-AS1c.973C>A (p.Leu325Ile)
c.587C>A
n.27-11487G>T
c.88C>A (p.Leu30Ile)
15g.45267485C>GCA392251768SLC28A2,SLC28A2-AS1c.973C>G (p.Leu325Val)
c.587C>G
n.27-11487G>C
c.88C>G (p.Leu30Val)
15g.45267485C>TCA392251770SLC28A2,SLC28A2-AS1c.973C>T (p.Leu325Phe)
c.587C>T
n.27-11487G>A
c.88C>T (p.Leu30Phe)
15g.45267486T>ACA392251772SLC28A2,SLC28A2-AS1c.974T>A (p.Leu325His)
c.588T>A
n.27-11488A>T
c.89T>A (p.Leu30His)
15g.45267486T>CCA270137269SLC28A2,SLC28A2-AS1c.974T>C (p.Leu325Pro)
c.588T>C
n.27-11488A>G
c.89T>C (p.Leu30Pro)
 dbSNP gnomAD v4
15g.45267486T>GCA392251775SLC28A2,SLC28A2-AS1c.974T>G (p.Leu325Arg)
c.588T>G
n.27-11488A>C
c.89T>G (p.Leu30Arg)
 gnomAD v4
15g.45267486T=CA2174018012SLC28A2,SLC28A2-AS1c.974T= (p.Leu325=)
c.588T=
n.27-11488A=
c.89T= (p.Leu30=)
15g.45267487T>ACA490223114SLC28A2,SLC28A2-AS1c.975T>A (p.Leu325=)
c.589T>A
n.27-11489A>T
c.90T>A (p.Leu30=)
15g.45267487T>CCA490223116SLC28A2,SLC28A2-AS1c.975T>C (p.Leu325=)
c.589T>C
n.27-11489A>G
c.90T>C (p.Leu30=)
15g.45267487T>GCA490223119SLC28A2,SLC28A2-AS1c.975T>G (p.Leu325=)
c.589T>G
n.27-11489A>C
c.90T>G (p.Leu30=)
15g.45267488G>ACA392251778SLC28A2,SLC28A2-AS1c.976G>A (p.Gly326Arg)
c.590G>A
n.27-11490C>T
c.91G>A (p.Gly31Arg)
 gnomAD v4
15g.45267488G>CCA392251782SLC28A2,SLC28A2-AS1c.976G>C (p.Gly326Arg)
c.590G>C
n.27-11490C>G
c.91G>C (p.Gly31Arg)
15g.45267488G>TCA392251779SLC28A2,SLC28A2-AS1c.976G>T (p.Gly326Trp)
c.590G>T
n.27-11490C>A
c.91G>T (p.Gly31Trp)
15g.45267489G>ACA392251784SLC28A2,SLC28A2-AS1c.977G>A (p.Gly326Glu)
c.591G>A
n.27-11491C>T
c.92G>A (p.Gly31Glu)
15g.45267489G>CCA392251788SLC28A2,SLC28A2-AS1c.977G>C (p.Gly326Ala)
c.591G>C
n.27-11491C>G
c.92G>C (p.Gly31Ala)
15g.45267489G>TCA392251786SLC28A2,SLC28A2-AS1c.977G>T (p.Gly326Val)
c.591G>T
n.27-11491C>A
c.92G>T (p.Gly31Val)
15g.45267490G>ACA490223129SLC28A2,SLC28A2-AS1c.978G>A (p.Gly326=)
c.592G>A
n.27-11492C>T
c.93G>A (p.Gly31=)
 gnomAD v4
15g.45267490G>CCA490223132SLC28A2,SLC28A2-AS1c.978G>C (p.Gly326=)
c.592G>C
n.27-11492C>G
c.93G>C (p.Gly31=)
15g.45267490G>TCA490223135SLC28A2,SLC28A2-AS1c.978G>T (p.Gly326=)
c.592G>T
n.27-11492C>A
c.93G>T (p.Gly31=)
15g.45267491G>ACA392251790SLC28A2,SLC28A2-AS1c.979G>A (p.Asp327Asn)
c.593G>A
n.27-11493C>T
c.94G>A (p.Asp32Asn)
15g.45267491G>CCA7542391SLC28A2,SLC28A2-AS1c.979G>C (p.Asp327His)
c.593G>C
n.27-11493C>G
c.94G>C (p.Asp32His)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.45267491G=CA2174018013SLC28A2,SLC28A2-AS1c.979G= (p.Asp327=)
c.593G=
n.27-11493C=
c.94G= (p.Asp32=)
15g.45267491G>TCA392251791SLC28A2,SLC28A2-AS1c.979G>T (p.Asp327Tyr)
c.593G>T
n.27-11493C>A
c.94G>T (p.Asp32Tyr)
15g.45267492A>CCA392251793SLC28A2,SLC28A2-AS1c.980A>C (p.Asp327Ala)
c.594A>C
n.27-11494T>G
c.95A>C (p.Asp32Ala)
15g.45267492A>GCA392251795SLC28A2,SLC28A2-AS1c.980A>G (p.Asp327Gly)
c.594A>G
n.27-11494T>C
c.95A>G (p.Asp32Gly)
15g.45267492A>TCA392251796SLC28A2,SLC28A2-AS1c.980A>T (p.Asp327Val)
c.594A>T
n.27-11494T>A
c.95A>T (p.Asp32Val)
15g.45267493C>ACA392251798SLC28A2,SLC28A2-AS1c.981C>A (p.Asp327Glu)
c.595C>A
n.27-11495G>T
c.96C>A (p.Asp32Glu)
15g.45267493C>GCA392251800SLC28A2,SLC28A2-AS1c.981C>G (p.Asp327Glu)
c.595C>G
n.27-11495G>C
c.96C>G (p.Asp32Glu)
15g.45267493C>TCA490223147SLC28A2,SLC28A2-AS1c.981C>T (p.Asp327=)
c.595C>T
n.27-11495G>A
c.96C>T (p.Asp32=)
15g.45267494A>CCA392251802SLC28A2,SLC28A2-AS1c.982A>C (p.Met328Leu)
c.596A>C
n.27-11496T>G
c.97A>C (p.Met33Leu)
15g.45267494A>GCA392251805SLC28A2,SLC28A2-AS1c.982A>G (p.Met328Val)
c.596A>G
n.27-11496T>C
c.97A>G (p.Met33Val)
 gnomAD v4
15g.45267494A>TCA392251807SLC28A2,SLC28A2-AS1c.982A>T (p.Met328Leu)
c.596A>T
n.27-11496T>A
c.97A>T (p.Met33Leu)
15g.45267495T>ACA392251808SLC28A2,SLC28A2-AS1c.983T>A (p.Met328Lys)
c.597T>A
n.27-11497A>T
c.98T>A (p.Met33Lys)
15g.45267495T>CCA7542392SLC28A2,SLC28A2-AS1c.983T>C (p.Met328Thr)
c.597T>C
n.27-11497A>G
c.98T>C (p.Met33Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.45267495T>GCA392251811SLC28A2,SLC28A2-AS1c.983T>G (p.Met328Arg)
c.597T>G
n.27-11497A>C
c.98T>G (p.Met33Arg)
15g.45267495T=CA2174018014SLC28A2,SLC28A2-AS1c.983T= (p.Met328=)
c.597T=
n.27-11497A=
c.98T= (p.Met33=)
15g.45267496G>ACA392251817SLC28A2,SLC28A2-AS1c.984G>A (p.Met328Ile)
c.598G>A
n.27-11498C>T
c.99G>A (p.Met33Ile)
15g.45267496G>CCA392251814SLC28A2,SLC28A2-AS1c.984G>C (p.Met328Ile)
c.598G>C
n.27-11498C>G
c.99G>C (p.Met33Ile)
15g.45267496G>TCA392251816SLC28A2,SLC28A2-AS1c.984G>T (p.Met328Ile)
c.598G>T
n.27-11498C>A
c.99G>T (p.Met33Ile)
15g.45267497A>CCA392251820SLC28A2,SLC28A2-AS1c.985A>C (p.Thr329Pro)
c.599A>C
n.27-11499T>G
c.100A>C (p.Thr34Pro)
15g.45267497A>GCA392251822SLC28A2,SLC28A2-AS1c.985A>G (p.Thr329Ala)
c.599A>G
n.27-11499T>C
c.100A>G (p.Thr34Ala)
15g.45267497A>TCA392251823SLC28A2,SLC28A2-AS1c.985A>T (p.Thr329Ser)
c.599A>T
n.27-11499T>A
c.100A>T (p.Thr34Ser)
15g.45267498C>ACA392251826SLC28A2,SLC28A2-AS1c.986C>A (p.Thr329Lys)
c.600C>A
n.27-11500G>T
c.101C>A (p.Thr34Lys)
15g.45267498C>GCA392251827SLC28A2,SLC28A2-AS1c.986C>G (p.Thr329Arg)
c.600C>G
n.27-11500G>C
c.101C>G (p.Thr34Arg)
15g.45267498C>TCA392251829SLC28A2,SLC28A2-AS1c.986C>T (p.Thr329Ile)
c.600C>T
n.27-11500G>A
c.101C>T (p.Thr34Ile)
15g.45267499A=CA2174018016SLC28A2,SLC28A2-AS1c.987A= (p.Thr329=)
c.601A=
n.27-11501T=
c.102A= (p.Thr34=)
15g.45267499A>CCA490223185SLC28A2,SLC28A2-AS1c.987A>C (p.Thr329=)
c.601A>C
n.27-11501T>G
c.102A>C (p.Thr34=)
15g.45267499A>GCA490223188SLC28A2,SLC28A2-AS1c.987A>G (p.Thr329=)
c.601A>G
n.27-11501T>C
c.102A>G (p.Thr34=)
15g.45267499A>TCA270137279SLC28A2,SLC28A2-AS1c.987A>T (p.Thr329=)
c.601A>T
n.27-11501T>A
c.102A>T (p.Thr34=)
 dbSNP gnomAD v4
15g.45267499_45267501delinsACTCA2174018015SLC28A2,SLC28A2-AS1c.987_989delinsACT (p.Thr329=)
c.601_603delinsACT
n.27-11503_27-11501delinsAGT
c.102_104delinsACT (p.Thr34=)
15g.45267500C>ACA7542394SLC28A2,SLC28A2-AS1c.988C>A (p.Leu330Ile)
c.602C>A
n.27-11502G>T
c.103C>A (p.Leu35Ile)
 dbSNP ExAC gnomAD v2
15g.45267500C=CA2174018017SLC28A2,SLC28A2-AS1c.988C= (p.Leu330=)
c.602C=
n.27-11502G=
c.103C= (p.Leu35=)
15g.45267500C>GCA392251831SLC28A2,SLC28A2-AS1c.988C>G (p.Leu330Val)
c.602C>G
n.27-11502G>C
c.103C>G (p.Leu35Val)
15g.45267500C>TCA392251833SLC28A2,SLC28A2-AS1c.988C>T (p.Leu330Phe)
c.602C>T
n.27-11502G>A
c.103C>T (p.Leu35Phe)
 gnomAD v4
15g.45267504_45267505delCA7542393SLC28A2,SLC28A2-AS1c.992_993del (p.Ser331Ter)
c.606_607del
n.27-11503_27-11502del
c.107_108del (p.Ser36Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.45267501T>ACA392251839SLC28A2,SLC28A2-AS1c.989T>A (p.Leu330His)
c.603T>A
n.27-11503A>T
c.104T>A (p.Leu35His)
15g.45267501T>CCA392251838SLC28A2,SLC28A2-AS1c.989T>C (p.Leu330Pro)
c.603T>C
n.27-11503A>G
c.104T>C (p.Leu35Pro)
 gnomAD v4
15g.45267501T>GCA392251836SLC28A2,SLC28A2-AS1c.989T>G (p.Leu330Arg)
c.603T>G
n.27-11503A>C
c.104T>G (p.Leu35Arg)
15g.45267502C>ACA490223201SLC28A2,SLC28A2-AS1c.990C>A (p.Leu330=)
c.604C>A
n.27-11504G>T
c.105C>A (p.Leu35=)
15g.45267502C>GCA490223205SLC28A2,SLC28A2-AS1c.990C>G (p.Leu330=)
c.604C>G
n.27-11504G>C
c.105C>G (p.Leu35=)
15g.45267502C>TCA490223208SLC28A2,SLC28A2-AS1c.990C>T (p.Leu330=)
c.604C>T
n.27-11504G>A
c.105C>T (p.Leu35=)
15g.45267503T>ACA392251842SLC28A2,SLC28A2-AS1c.991T>A (p.Ser331Thr)
c.605T>A
n.27-11505A>T
c.106T>A (p.Ser36Thr)
15g.45267503T>CCA392251843SLC28A2,SLC28A2-AS1c.991T>C (p.Ser331Pro)
c.605T>C
n.27-11505A>G
c.106T>C (p.Ser36Pro)
15g.45267503T>GCA392251845SLC28A2,SLC28A2-AS1c.991T>G (p.Ser331Ala)
c.605T>G
n.27-11505A>C
c.106T>G (p.Ser36Ala)
15g.45267504C>ACA392251848SLC28A2,SLC28A2-AS1c.992C>A (p.Ser331Tyr)
c.606C>A
n.27-11506G>T
c.107C>A (p.Ser36Tyr)
15g.45267504C=CA2174018018SLC28A2,SLC28A2-AS1c.992C= (p.Ser331=)
c.606C=
n.27-11506G=
c.107C= (p.Ser36=)
15g.45267504C>GCA270137291SLC28A2,SLC28A2-AS1c.992C>G (p.Ser331Cys)
c.606C>G
n.27-11506G>C
c.107C>G (p.Ser36Cys)
 dbSNP gnomAD v4
15g.45267504C>TCA392251850SLC28A2,SLC28A2-AS1c.992C>T (p.Ser331Phe)
c.606C>T
n.27-11506G>A
c.107C>T (p.Ser36Phe)
 dbSNP
15g.45267505T>ACA7542395SLC28A2,SLC28A2-AS1c.993T>A (p.Ser331=)
c.607T>A
n.27-11507A>T
c.108T>A (p.Ser36=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.45267505T>CCA490223216SLC28A2,SLC28A2-AS1c.993T>C (p.Ser331=)
c.607T>C
n.27-11507A>G
c.108T>C (p.Ser36=)
15g.45267505T>GCA7542396SLC28A2,SLC28A2-AS1c.993T>G (p.Ser331=)
c.607T>G
n.27-11507A>C
c.108T>G (p.Ser36=)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.45267505T=CA2174018019SLC28A2,SLC28A2-AS1c.993T= (p.Ser331=)
c.607T=
n.27-11507A=
c.108T= (p.Ser36=)
15g.45267506G>ACA392251853SLC28A2,SLC28A2-AS1c.994G>A (p.Glu332Lys)
c.608G>A
n.27-11508C>T
c.109G>A (p.Glu37Lys)
 gnomAD v4
15g.45267506G>CCA392251855SLC28A2,SLC28A2-AS1c.994G>C (p.Glu332Gln)
c.608G>C
n.27-11508C>G
c.109G>C (p.Glu37Gln)
15g.45267506G>TCA392251857SLC28A2,SLC28A2-AS1c.994G>T (p.Glu332Ter)
c.608G>T
n.27-11508C>A
c.109G>T (p.Glu37Ter)
15g.45267507A>CCA392251862SLC28A2,SLC28A2-AS1c.995A>C (p.Glu332Ala)
c.609A>C
n.27-11509T>G
c.110A>C (p.Glu37Ala)
15g.45267507A>GCA392251861SLC28A2,SLC28A2-AS1c.995A>G (p.Glu332Gly)
c.609A>G
n.27-11509T>C
c.110A>G (p.Glu37Gly)
15g.45267507A>TCA392251859SLC28A2,SLC28A2-AS1c.995A>T (p.Glu332Val)
c.609A>T
n.27-11509T>A
c.110A>T (p.Glu37Val)
15g.45267508A>CCA392251864SLC28A2,SLC28A2-AS1c.996A>C (p.Glu332Asp)
c.610A>C
n.27-11510T>G
c.111A>C (p.Glu37Asp)
15g.45267508A>GCA490223230SLC28A2,SLC28A2-AS1c.996A>G (p.Glu332=)
c.610A>G
n.27-11510T>C
c.111A>G (p.Glu37=)
15g.45267508A>TCA392251866SLC28A2,SLC28A2-AS1c.996A>T (p.Glu332Asp)
c.610A>T
n.27-11510T>A
c.111A>T (p.Glu37Asp)
15g.45267509A>CCA392251869SLC28A2,SLC28A2-AS1c.997A>C (p.Ile333Leu)
c.611A>C
n.27-11511T>G
c.112A>C (p.Ile38Leu)
15g.45267509A>GCA392251872SLC28A2,SLC28A2-AS1c.997A>G (p.Ile333Val)
c.611A>G
n.27-11511T>C
c.112A>G (p.Ile38Val)
15g.45267509A>TCA392251875SLC28A2,SLC28A2-AS1c.997A>T (p.Ile333Phe)
c.611A>T
n.27-11511T>A
c.112A>T (p.Ile38Phe)
15g.45267510T>ACA392251877SLC28A2,SLC28A2-AS1c.998T>A (p.Ile333Asn)
c.612T>A
n.27-11512A>T
c.113T>A (p.Ile38Asn)
15g.45267510T>CCA392251879SLC28A2,SLC28A2-AS1c.998T>C (p.Ile333Thr)
c.612T>C
n.27-11512A>G
c.113T>C (p.Ile38Thr)
 dbSNP gnomAD v2 gnomAD v4
15g.45267510T>GCA392251880SLC28A2,SLC28A2-AS1c.998T>G (p.Ile333Ser)
c.612T>G
n.27-11512A>C
c.113T>G (p.Ile38Ser)
15g.45267510T=CA2174018020SLC28A2,SLC28A2-AS1c.998T= (p.Ile333=)
c.612T=
n.27-11512A=
c.113T= (p.Ile38=)
15g.45267511C>ACA490223244SLC28A2,SLC28A2-AS1c.999C>A (p.Ile333=)
c.613C>A
n.27-11513G>T
c.114C>A (p.Ile38=)
 gnomAD v4
15g.45267511C=CA2174018021SLC28A2,SLC28A2-AS1c.999C= (p.Ile333=)
c.613C=
n.27-11513G=
c.114C= (p.Ile38=)
15g.45267511C>GCA392251883SLC28A2,SLC28A2-AS1c.999C>G (p.Ile333Met)
c.613C>G
n.27-11513G>C
c.114C>G (p.Ile38Met)
 dbSNP
15g.45267511C>TCA490223248SLC28A2,SLC28A2-AS1c.999C>T (p.Ile333=)
c.613C>T
n.27-11513G>A
c.114C>T (p.Ile38=)
15g.45267512C>ACA392251885SLC28A2,SLC28A2-AS1c.1000C>A (p.His334Asn)
c.614C>A
n.27-11514G>T
c.115C>A (p.His39Asn)
15g.45267512C=CA2174018022SLC28A2,SLC28A2-AS1c.1000C= (p.His334=)
c.614C=
n.27-11514G=
c.115C= (p.His39=)
15g.45267512C>GCA392251888SLC28A2,SLC28A2-AS1c.1000C>G (p.His334Asp)
c.614C>G
n.27-11514G>C
c.115C>G (p.His39Asp)
15g.45267512C>TCA270137300SLC28A2,SLC28A2-AS1c.1000C>T (p.His334Tyr)
c.614C>T
n.27-11514G>A
c.115C>T (p.His39Tyr)
 dbSNP gnomAD v2 gnomAD v4
15g.45267513A=CA2174018023SLC28A2,SLC28A2-AS1c.1001A= (p.His334=)
c.615A=
n.27-11515T=
c.116A= (p.His39=)
15g.45267513A>CCA392251896SLC28A2,SLC28A2-AS1c.1001A>C (p.His334Pro)
c.615A>C
n.27-11515T>G
c.116A>C (p.His39Pro)
15g.45267513A>GCA392251893SLC28A2,SLC28A2-AS1c.1001A>G (p.His334Arg)
c.615A>G
n.27-11515T>C
c.116A>G (p.His39Arg)
 dbSNP
15g.45267513A>TCA392251892SLC28A2,SLC28A2-AS1c.1001A>T (p.His334Leu)
c.615A>T
n.27-11515T>A
c.116A>T (p.His39Leu)
15g.45267514T>ACA392251899SLC28A2,SLC28A2-AS1c.1002T>A (p.His334Gln)
c.616T>A
n.27-11516A>T
c.117T>A (p.His39Gln)
15g.45267514T>CCA7542397SLC28A2,SLC28A2-AS1c.1002T>C (p.His334=)
c.616T>C
n.27-11516A>G
c.117T>C (p.His39=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.45267514T>GCA392251901SLC28A2,SLC28A2-AS1c.1002T>G (p.His334Gln)
c.616T>G
n.27-11516A>C
c.117T>G (p.His39Gln)
15g.45267514T=CA2174018024SLC28A2,SLC28A2-AS1c.1002T= (p.His334=)
c.616T=
n.27-11516A=
c.117T= (p.His39=)
15g.45267515G>ACA7542398SLC28A2,SLC28A2-AS1c.1003G>A (p.Ala335Thr)
c.617G>A
n.27-11517C>T
c.118G>A (p.Ala40Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.45267515G>CCA392251906SLC28A2,SLC28A2-AS1c.1003G>C (p.Ala335Pro)
c.617G>C
n.27-11517C>G
c.118G>C (p.Ala40Pro)
15g.45267515G=CA2174018025SLC28A2,SLC28A2-AS1c.1003G= (p.Ala335=)
c.617G=
n.27-11517C=
c.118G= (p.Ala40=)
15g.45267515G>TCA392251908SLC28A2,SLC28A2-AS1c.1003G>T (p.Ala335Ser)
c.617G>T
n.27-11517C>A
c.118G>T (p.Ala40Ser)
15g.45267516C>ACA392251910SLC28A2,SLC28A2-AS1c.1004C>A (p.Ala335Glu)
c.618C>A
n.27-11518G>T
c.119C>A (p.Ala40Glu)
 dbSNP gnomAD v4
15g.45267516C=CA2174018026SLC28A2,SLC28A2-AS1c.1004C= (p.Ala335=)
c.618C=
n.27-11518G=
c.119C= (p.Ala40=)
15g.45267516C>GCA392251912SLC28A2,SLC28A2-AS1c.1004C>G (p.Ala335Gly)
c.618C>G
n.27-11518G>C
c.119C>G (p.Ala40Gly)
15g.45267516C>TCA7542399SLC28A2,SLC28A2-AS1c.1004C>T (p.Ala335Val)
c.618C>T
n.27-11518G>A
c.119C>T (p.Ala40Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.45267517G>ACA7542400SLC28A2,SLC28A2-AS1c.1005G>A (p.Ala335=)
c.619G>A
n.27-11519C>T
c.120G>A (p.Ala40=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.45267517G>CCA490223276SLC28A2,SLC28A2-AS1c.1005G>C (p.Ala335=)
c.619G>C
n.27-11519C>G
c.120G>C (p.Ala40=)
15g.45267517G=CA2174018027SLC28A2,SLC28A2-AS1c.1005G= (p.Ala335=)
c.619G=
n.27-11519C=
c.120G= (p.Ala40=)
15g.45267517G>TCA490223280SLC28A2,SLC28A2-AS1c.1005G>T (p.Ala335=)
c.619G>T
n.27-11519C>A
c.120G>T (p.Ala40=)
15g.45267518G>ACA392251918SLC28A2,SLC28A2-AS1c.1006G>A (p.Val336Met)
c.620G>A
n.27-11520C>T
c.121G>A (p.Val41Met)
15g.45267518G>CCA392251920SLC28A2,SLC28A2-AS1c.1006G>C (p.Val336Leu)
c.620G>C
n.27-11520C>G
c.121G>C (p.Val41Leu)
15g.45267518G>TCA392251922SLC28A2,SLC28A2-AS1c.1006G>T (p.Val336Leu)
c.620G>T
n.27-11520C>A
c.121G>T (p.Val41Leu)
15g.45267519T>ACA392251925SLC28A2,SLC28A2-AS1c.1007T>A (p.Val336Glu)
c.621T>A
n.27-11521A>T
c.122T>A (p.Val41Glu)
15g.45267519T>CCA392251927SLC28A2,SLC28A2-AS1c.1007T>C (p.Val336Ala)
c.621T>C
n.27-11521A>G
c.122T>C (p.Val41Ala)
15g.45267519T>GCA392251929SLC28A2,SLC28A2-AS1c.1007T>G (p.Val336Gly)
c.621T>G
n.27-11521A>C
c.122T>G (p.Val41Gly)
15g.45267520G>ACA490223294SLC28A2,SLC28A2-AS1c.1008G>A (p.Val336=)
c.622G>A
n.27-11522C>T
c.123G>A (p.Val41=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.45267520G>CCA490223299SLC28A2,SLC28A2-AS1c.1008G>C (p.Val336=)
c.622G>C
n.27-11522C>G
c.123G>C (p.Val41=)
15g.45267520G=CA2174018028SLC28A2,SLC28A2-AS1c.1008G= (p.Val336=)
c.622G=
n.27-11522C=
c.123G= (p.Val41=)
15g.45267520G>TCA490223296SLC28A2,SLC28A2-AS1c.1008G>T (p.Val336=)
c.622G>T
n.27-11522C>A
c.123G>T (p.Val41=)
15g.45267521A>CCA392251932SLC28A2,SLC28A2-AS1c.1009A>C (p.Met337Leu)
c.623A>C
n.27-11523T>G
c.124A>C (p.Met42Leu)
15g.45267521A>GCA392251937SLC28A2,SLC28A2-AS1c.1009A>G (p.Met337Val)
c.623A>G
n.27-11523T>C
c.124A>G (p.Met42Val)
15g.45267521A>TCA392251935SLC28A2,SLC28A2-AS1c.1009A>T (p.Met337Leu)
c.623A>T
n.27-11523T>A
c.124A>T (p.Met42Leu)
15g.45267522T>ACA392251939SLC28A2,SLC28A2-AS1c.1010T>A (p.Met337Lys)
c.624T>A
n.27-11524A>T
c.125T>A (p.Met42Lys)
15g.45267522T>CCA392251941SLC28A2,SLC28A2-AS1c.1010T>C (p.Met337Thr)
c.624T>C
n.27-11524A>G
c.125T>C (p.Met42Thr)
 gnomAD v4
15g.45267522T>GCA392251944SLC28A2,SLC28A2-AS1c.1010T>G (p.Met337Arg)
c.624T>G
n.27-11524A>C
c.125T>G (p.Met42Arg)
15g.45267523G>ACA392251947SLC28A2,SLC28A2-AS1c.1011G>A (p.Met337Ile)
c.625G>A
n.27-11525C>T
c.126G>A (p.Met42Ile)
 dbSNP
15g.45267523G>CCA392251949SLC28A2,SLC28A2-AS1c.1011G>C (p.Met337Ile)
c.625G>C
n.27-11525C>G
c.126G>C (p.Met42Ile)
15g.45267523G=CA2174018029SLC28A2,SLC28A2-AS1c.1011G= (p.Met337=)
c.625G=
n.27-11525C=
c.126G= (p.Met42=)
15g.45267523G>TCA392251951SLC28A2,SLC28A2-AS1c.1011G>T (p.Met337Ile)
c.625G>T
n.27-11525C>A
c.126G>T (p.Met42Ile)
15g.45267525_45267529delCA2628264924SLC28A2,SLC28A2-AS1c.1013_1017del (p.Thr338ArgfsTer19)
c.627_631del
n.27-11529_27-11525del
c.128_132del (p.Thr43ArgfsTer19)
 gnomAD v4
15g.45267524A=CA2174018031SLC28A2,SLC28A2-AS1c.1012A= (p.Thr338=)
c.626A=
n.27-11526T=
c.127A= (p.Thr43=)
15g.45267524A>CCA392251954SLC28A2,SLC28A2-AS1c.1012A>C (p.Thr338Pro)
c.626A>C
n.27-11526T>G
c.127A>C (p.Thr43Pro)
 gnomAD v4
15g.45267524A>GCA392251957SLC28A2,SLC28A2-AS1c.1012A>G (p.Thr338Ala)
c.626A>G
n.27-11526T>C
c.127A>G (p.Thr43Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.45267524A>TCA392251960SLC28A2,SLC28A2-AS1c.1012A>T (p.Thr338Ser)
c.626A>T
n.27-11526T>A
c.127A>T (p.Thr43Ser)
15g.45267524_45267545delinsACTGGAGGGTTTGCCACCATTTCA2174018030SLC28A2,SLC28A2-AS1c.1012_1033delinsACTGGAGGGTTTGCCACCATTT (p.Thr338=)
c.626_647delinsACTGGAGGGTTTGCCACCATTT
n.27-11547_27-11526delinsAAATGGTGGCAAACCCTCCAGT
c.127_148delinsACTGGAGGGTTTGCCACCATTT (p.Thr43=)
15g.45267525C>ACA392251969SLC28A2,SLC28A2-AS1c.1013C>A (p.Thr338Asn)
c.627C>A
n.27-11527G>T
c.128C>A (p.Thr43Asn)
15g.45267525C>GCA392251967SLC28A2,SLC28A2-AS1c.1013C>G (p.Thr338Ser)
c.627C>G
n.27-11527G>C
c.128C>G (p.Thr43Ser)
15g.45267525C>TCA392251973SLC28A2,SLC28A2-AS1c.1013C>T (p.Thr338Ile)
c.627C>T
n.27-11527G>A
c.128C>T (p.Thr43Ile)
 gnomAD v4
15g.45267529_45267549delCA7542401SLC28A2,SLC28A2-AS1c.1017_1037del (p.Gly340_Gly346del)
c.631_651del
n.27-11547_27-11527del
c.132_152del (p.Gly45_Gly51del)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.45267526T>ACA490223328SLC28A2,SLC28A2-AS1c.1014T>A (p.Thr338=)
c.628T>A
n.27-11528A>T
c.129T>A (p.Thr43=)
15g.45267526T>CCA7542402SLC28A2,SLC28A2-AS1c.1014T>C (p.Thr338=)
c.628T>C
n.27-11528A>G
c.129T>C (p.Thr43=)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.45267526T>GCA490223332SLC28A2,SLC28A2-AS1c.1014T>G (p.Thr338=)
c.628T>G
n.27-11528A>C
c.129T>G (p.Thr43=)
15g.45267526T=CA2174018032SLC28A2,SLC28A2-AS1c.1014T= (p.Thr338=)
c.628T=
n.27-11528A=
c.129T= (p.Thr43=)
15g.45267527G>ACA392251978SLC28A2,SLC28A2-AS1c.1015G>A (p.Gly339Arg)
c.629G>A
n.27-11529C>T
c.130G>A (p.Gly44Arg)
 gnomAD v4
15g.45267527G>CCA392251981SLC28A2,SLC28A2-AS1c.1015G>C (p.Gly339Arg)
c.629G>C
n.27-11529C>G
c.130G>C (p.Gly44Arg)
15g.45267527G>TCA392251984SLC28A2,SLC28A2-AS1c.1015G>T (p.Gly339Ter)
c.629G>T
n.27-11529C>A
c.130G>T (p.Gly44Ter)
15g.45267528G>ACA392251997SLC28A2,SLC28A2-AS1c.1016G>A (p.Gly339Glu)
c.630G>A
n.27-11530C>T
c.131G>A (p.Gly44Glu)
 dbSNP gnomAD v2 gnomAD v4
15g.45267528G>CCA392251993SLC28A2,SLC28A2-AS1c.1016G>C (p.Gly339Ala)
c.630G>C
n.27-11530C>G
c.131G>C (p.Gly44Ala)
15g.45267528G=CA2174018033SLC28A2,SLC28A2-AS1c.1016G= (p.Gly339=)
c.630G=
n.27-11530C=
c.131G= (p.Gly44=)
15g.45267528G>TCA392251988SLC28A2,SLC28A2-AS1c.1016G>T (p.Gly339Val)
c.630G>T
n.27-11530C>A
c.131G>T (p.Gly44Val)
15g.45267529A>CCA490223349SLC28A2,SLC28A2-AS1c.1017A>C (p.Gly339=)
c.631A>C
n.27-11531T>G
c.132A>C (p.Gly44=)
15g.45267529A>GCA490223346SLC28A2,SLC28A2-AS1c.1017A>G (p.Gly339=)
c.631A>G
n.27-11531T>C
c.132A>G (p.Gly44=)
15g.45267529A>TCA490223344SLC28A2,SLC28A2-AS1c.1017A>T (p.Gly339=)
c.631A>T
n.27-11531T>A
c.132A>T (p.Gly44=)
15g.45267530G>ACA392251998SLC28A2,SLC28A2-AS1c.1018G>A (p.Gly340Arg)
c.632G>A
n.27-11532C>T
c.133G>A (p.Gly45Arg)
15g.45267530G>CCA392251999SLC28A2,SLC28A2-AS1c.1018G>C (p.Gly340Arg)
c.632G>C
n.27-11532C>G
c.133G>C (p.Gly45Arg)
15g.45267530G>TCA392252000SLC28A2,SLC28A2-AS1c.1018G>T (p.Gly340Trp)
c.632G>T
n.27-11532C>A
c.133G>T (p.Gly45Trp)
15g.45267531G>ACA392252002SLC28A2,SLC28A2-AS1c.1019G>A (p.Gly340Glu)
c.633G>A
n.27-11533C>T
c.134G>A (p.Gly45Glu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
15g.45267531G>CCA392252003SLC28A2,SLC28A2-AS1c.1019G>C (p.Gly340Ala)
c.633G>C
n.27-11533C>G
c.134G>C (p.Gly45Ala)
 ClinVar dbSNP
15g.45267531G=CA2174018034SLC28A2,SLC28A2-AS1c.1019G= (p.Gly340=)
c.633G=
n.27-11533C=
c.134G= (p.Gly45=)
15g.45267531G>TCA392252006SLC28A2,SLC28A2-AS1c.1019G>T (p.Gly340Val)
c.633G>T
n.27-11533C>A
c.134G>T (p.Gly45Val)
15g.45267532G>ACA270137333SLC28A2,SLC28A2-AS1c.1020G>A (p.Gly340=)
c.634G>A
n.27-11534C>T
c.135G>A (p.Gly45=)
 dbSNP gnomAD v4
15g.45267532G>CCA490223362SLC28A2,SLC28A2-AS1c.1020G>C (p.Gly340=)
c.634G>C
n.27-11534C>G
c.135G>C (p.Gly45=)
 dbSNP gnomAD v4
15g.45267532G=CA2174018035SLC28A2,SLC28A2-AS1c.1020G= (p.Gly340=)
c.634G=
n.27-11534C=
c.135G= (p.Gly45=)
15g.45267532G>TCA490223365SLC28A2,SLC28A2-AS1c.1020G>T (p.Gly340=)
c.634G>T
n.27-11534C>A
c.135G>T (p.Gly45=)
 dbSNP gnomAD v4
15g.45267533T>ACA392252010SLC28A2,SLC28A2-AS1c.1021T>A (p.Phe341Ile)
c.635T>A
n.27-11535A>T
c.136T>A (p.Phe46Ile)
15g.45267533T>CCA392252016SLC28A2,SLC28A2-AS1c.1021T>C (p.Phe341Leu)
c.635T>C
n.27-11535A>G
c.136T>C (p.Phe46Leu)
15g.45267533T>GCA392252014SLC28A2,SLC28A2-AS1c.1021T>G (p.Phe341Val)
c.635T>G
n.27-11535A>C
c.136T>G (p.Phe46Val)
15g.45267534T>ACA392252019SLC28A2,SLC28A2-AS1c.1022T>A (p.Phe341Tyr)
c.636T>A
n.27-11536A>T
c.137T>A (p.Phe46Tyr)
15g.45267534T>CCA392252022SLC28A2,SLC28A2-AS1c.1022T>C (p.Phe341Ser)
c.636T>C
n.27-11536A>G
c.137T>C (p.Phe46Ser)
15g.45267534T>GCA7542403SLC28A2,SLC28A2-AS1c.1022T>G (p.Phe341Cys)
c.636T>G
n.27-11536A>C
c.137T>G (p.Phe46Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.45267534T=CA2174018036SLC28A2,SLC28A2-AS1c.1022T= (p.Phe341=)
c.636T=
n.27-11536A=
c.137T= (p.Phe46=)
15g.45267535T>ACA392252028SLC28A2,SLC28A2-AS1c.1023T>A (p.Phe341Leu)
c.637T>A
n.27-11537A>T
c.138T>A (p.Phe46Leu)
15g.45267535T>CCA490223392SLC28A2,SLC28A2-AS1c.1023T>C (p.Phe341=)
c.637T>C
n.27-11537A>G
c.138T>C (p.Phe46=)
15g.45267535T>GCA392252036SLC28A2,SLC28A2-AS1c.1023T>G (p.Phe341Leu)
c.637T>G
n.27-11537A>C
c.138T>G (p.Phe46Leu)
15g.45267536G>ACA392252039SLC28A2,SLC28A2-AS1c.1024G>A (p.Ala342Thr)
c.638G>A
n.27-11538C>T
c.139G>A (p.Ala47Thr)
 dbSNP
15g.45267536G>CCA392252041SLC28A2,SLC28A2-AS1c.1024G>C (p.Ala342Pro)
c.638G>C
n.27-11538C>G
c.139G>C (p.Ala47Pro)
15g.45267536G=CA2174018037SLC28A2,SLC28A2-AS1c.1024G= (p.Ala342=)
c.638G=
n.27-11538C=
c.139G= (p.Ala47=)
15g.45267536G>TCA392252044SLC28A2,SLC28A2-AS1c.1024G>T (p.Ala342Ser)
c.638G>T
n.27-11538C>A
c.139G>T (p.Ala47Ser)
15g.45267537C>ACA7542404SLC28A2,SLC28A2-AS1c.1025C>A (p.Ala342Asp)
c.639C>A
n.27-11539G>T
c.140C>A (p.Ala47Asp)
 dbSNP ExAC gnomAD v4
15g.45267537C=CA2174018038SLC28A2,SLC28A2-AS1c.1025C= (p.Ala342=)
c.639C=
n.27-11539G=
c.140C= (p.Ala47=)
15g.45267537C>GCA392252048SLC28A2,SLC28A2-AS1c.1025C>G (p.Ala342Gly)
c.639C>G
n.27-11539G>C
c.140C>G (p.Ala47Gly)
 gnomAD v4
15g.45267537C>TCA392252053SLC28A2,SLC28A2-AS1c.1025C>T (p.Ala342Val)
c.639C>T
n.27-11539G>A
c.140C>T (p.Ala47Val)
 gnomAD v4
15g.45267538dupCA2628264925SLC28A2,SLC28A2-AS1c.1026dup (p.Thr343HisfsTer16)
c.640dup
n.27-11539dup
c.141dup (p.Thr48HisfsTer16)
 gnomAD v4
15g.45267538C>ACA490223416SLC28A2,SLC28A2-AS1c.1026C>A (p.Ala342=)
c.640C>A
n.27-11540G>T
c.141C>A (p.Ala47=)
15g.45267538C=CA2174018039SLC28A2,SLC28A2-AS1c.1026C= (p.Ala342=)
c.640C=
n.27-11540G=
c.141C= (p.Ala47=)
15g.45267538C>GCA490223418SLC28A2,SLC28A2-AS1c.1026C>G (p.Ala342=)
c.640C>G
n.27-11540G>C
c.141C>G (p.Ala47=)
15g.45267538C>TCA270137341SLC28A2,SLC28A2-AS1c.1026C>T (p.Ala342=)
c.640C>T
n.27-11540G>A
c.141C>T (p.Ala47=)
 dbSNP gnomAD v3 gnomAD v4
15g.45267539A>CCA392252059SLC28A2,SLC28A2-AS1c.1027A>C (p.Thr343Pro)
c.641A>C
n.27-11541T>G
c.142A>C (p.Thr48Pro)
 gnomAD v4
15g.45267539A>GCA392252062SLC28A2,SLC28A2-AS1c.1027A>G (p.Thr343Ala)
c.641A>G
n.27-11541T>C
c.142A>G (p.Thr48Ala)
 gnomAD v4
15g.45267539A>TCA392252056SLC28A2,SLC28A2-AS1c.1027A>T (p.Thr343Ser)
c.641A>T
n.27-11541T>A
c.142A>T (p.Thr48Ser)
15g.45267540C>ACA392252065SLC28A2,SLC28A2-AS1c.1028C>A (p.Thr343Asn)
c.642C>A
n.27-11542G>T
c.143C>A (p.Thr48Asn)
15g.45267540C>GCA392252064SLC28A2,SLC28A2-AS1c.1028C>G (p.Thr343Ser)
c.642C>G
n.27-11542G>C
c.143C>G (p.Thr48Ser)
15g.45267540C>TCA392252066SLC28A2,SLC28A2-AS1c.1028C>T (p.Thr343Ile)
c.642C>T
n.27-11542G>A
c.143C>T (p.Thr48Ile)
15g.45267541C>ACA490223426SLC28A2,SLC28A2-AS1c.1029C>A (p.Thr343=)
c.643C>A
n.27-11543G>T
c.144C>A (p.Thr48=)
15g.45267541C>GCA490223428SLC28A2,SLC28A2-AS1c.1029C>G (p.Thr343=)
c.643C>G
n.27-11543G>C
c.144C>G (p.Thr48=)
15g.45267541C>TCA490223431SLC28A2,SLC28A2-AS1c.1029C>T (p.Thr343=)
c.643C>T
n.27-11543G>A
c.144C>T (p.Thr48=)
15g.45267542A>CCA392252069SLC28A2,SLC28A2-AS1c.1030A>C (p.Ile344Leu)
c.644A>C
n.27-11544T>G
c.145A>C (p.Ile49Leu)
15g.45267542A>GCA392252071SLC28A2,SLC28A2-AS1c.1030A>G (p.Ile344Val)
c.644A>G
n.27-11544T>C
c.145A>G (p.Ile49Val)
 gnomAD v4
15g.45267542A>TCA392252075SLC28A2,SLC28A2-AS1c.1030A>T (p.Ile344Phe)
c.644A>T
n.27-11544T>A
c.145A>T (p.Ile49Phe)
15g.45267543T>ACA392252081SLC28A2,SLC28A2-AS1c.1031T>A (p.Ile344Asn)
c.645T>A
n.27-11545A>T
c.146T>A (p.Ile49Asn)
15g.45267543T>CCA392252084SLC28A2,SLC28A2-AS1c.1031T>C (p.Ile344Thr)
c.645T>C
n.27-11545A>G
c.146T>C (p.Ile49Thr)
15g.45267543T>GCA392252093SLC28A2,SLC28A2-AS1c.1031T>G (p.Ile344Ser)
c.645T>G
n.27-11545A>C
c.146T>G (p.Ile49Ser)
15g.45267544T>ACA490223443SLC28A2,SLC28A2-AS1c.1032T>A (p.Ile344=)
c.646T>A
n.27-11546A>T
c.147T>A (p.Ile49=)
15g.45267544T>CCA490223444SLC28A2,SLC28A2-AS1c.1032T>C (p.Ile344=)
c.646T>C
n.27-11546A>G
c.147T>C (p.Ile49=)
 gnomAD v4
15g.45267544T>GCA392252098SLC28A2,SLC28A2-AS1c.1032T>G (p.Ile344Met)
c.646T>G
n.27-11546A>C
c.147T>G (p.Ile49Met)
15g.45267545T>ACA392252101SLC28A2,SLC28A2-AS1c.1033T>A (p.Ser345Thr)
c.647T>A
n.27-11547A>T
c.148T>A (p.Ser50Thr)
15g.45267545T>CCA392252104SLC28A2,SLC28A2-AS1c.1033T>C (p.Ser345Pro)
c.647T>C
n.27-11547A>G
c.148T>C (p.Ser50Pro)
15g.45267545T>GCA392252107SLC28A2,SLC28A2-AS1c.1033T>G (p.Ser345Ala)
c.647T>G
n.27-11547A>C
c.148T>G (p.Ser50Ala)
 dbSNP gnomAD v2 gnomAD v4
15g.45267545T=CA2174018040SLC28A2,SLC28A2-AS1c.1033T= (p.Ser345=)
c.647T=
n.27-11547A=
c.148T= (p.Ser50=)
15g.45267545_45267556delinsTCTGGCACTGTGCA2174018041SLC28A2,SLC28A2-AS1c.1033_1044delinsTCTGGCACTGTG (p.Ser345=)
c.647_658delinsTCTGGCACTGTG
n.27-11558_27-11547delinsCACAGTGCCAGA
c.148_159delinsTCTGGCACTGTG (p.Ser50=)
15g.45267546C>ACA392252128SLC28A2,SLC28A2-AS1c.1034C>A (p.Ser345Tyr)
c.648C>A
n.27-11548G>T
c.149C>A (p.Ser50Tyr)
15g.45267546C>GCA392252125SLC28A2,SLC28A2-AS1c.1034C>G (p.Ser345Cys)
c.648C>G
n.27-11548G>C
c.149C>G (p.Ser50Cys)
15g.45267546C>TCA392252119SLC28A2,SLC28A2-AS1c.1034C>T (p.Ser345Phe)
c.648C>T
n.27-11548G>A
c.149C>T (p.Ser50Phe)
 COSMIC
15g.45267550_45267560delCA969341626SLC28A2,SLC28A2-AS1c.1038_1048del (p.Thr347SerfsTer8)
c.652_662del
n.27-11558_27-11548del
c.153_163del (p.Thr52SerfsTer8)
 dbSNP gnomAD v3 gnomAD v4
15g.45267547T>ACA490223456SLC28A2,SLC28A2-AS1c.1035T>A (p.Ser345=)
c.649T>A
n.27-11549A>T
c.150T>A (p.Ser50=)
15g.45267547T>CCA490223457SLC28A2,SLC28A2-AS1c.1035T>C (p.Ser345=)
c.649T>C
n.27-11549A>G
c.150T>C (p.Ser50=)
15g.45267547T>GCA490223458SLC28A2,SLC28A2-AS1c.1035T>G (p.Ser345=)
c.649T>G
n.27-11549A>C
c.150T>G (p.Ser50=)
15g.45267548G>ACA392252131SLC28A2,SLC28A2-AS1c.1036G>A (p.Gly346Ser)
c.650G>A
n.27-11550C>T
c.151G>A (p.Gly51Ser)
15g.45267548G>CCA392252134SLC28A2,SLC28A2-AS1c.1036G>C (p.Gly346Arg)
c.650G>C
n.27-11550C>G
c.151G>C (p.Gly51Arg)
15g.45267548G>TCA392252137SLC28A2,SLC28A2-AS1c.1036G>T (p.Gly346Cys)
c.650G>T
n.27-11550C>A
c.151G>T (p.Gly51Cys)
15g.45267549G>ACA392252144SLC28A2,SLC28A2-AS1c.1037G>A (p.Gly346Asp)
c.651G>A
n.27-11551C>T
c.152G>A (p.Gly51Asp)
15g.45267549G>CCA392252150SLC28A2,SLC28A2-AS1c.1037G>C (p.Gly346Ala)
c.651G>C
n.27-11551C>G
c.152G>C (p.Gly51Ala)
15g.45267549G>TCA392252153SLC28A2,SLC28A2-AS1c.1037G>T (p.Gly346Val)
c.651G>T
n.27-11551C>A
c.152G>T (p.Gly51Val)
15g.45267550C>ACA490223470SLC28A2,SLC28A2-AS1c.1038C>A (p.Gly346=)
c.652C>A
n.27-11552G>T
c.153C>A (p.Gly51=)
15g.45267550C=CA2174018042SLC28A2,SLC28A2-AS1c.1038C= (p.Gly346=)
c.652C=
n.27-11552G=
c.153C= (p.Gly51=)
15g.45267550C>GCA490223474SLC28A2,SLC28A2-AS1c.1038C>G (p.Gly346=)
c.652C>G
n.27-11552G>C
c.153C>G (p.Gly51=)
15g.45267550C>TCA490223473SLC28A2,SLC28A2-AS1c.1038C>T (p.Gly346=)
c.652C>T
n.27-11552G>A
c.153C>T (p.Gly51=)
 dbSNP gnomAD v3 gnomAD v4
15g.45267551A=CA2174018043SLC28A2,SLC28A2-AS1c.1039A= (p.Thr347=)
c.653A=
n.27-11553T=
c.154A= (p.Thr52=)
15g.45267551A>CCA392252157SLC28A2,SLC28A2-AS1c.1039A>C (p.Thr347Pro)
c.653A>C
n.27-11553T>G
c.154A>C (p.Thr52Pro)
15g.45267551A>GCA392252159SLC28A2,SLC28A2-AS1c.1039A>G (p.Thr347Ala)
c.653A>G
n.27-11553T>C
c.154A>G (p.Thr52Ala)
15g.45267551A>TCA7542405SLC28A2,SLC28A2-AS1c.1039A>T (p.Thr347Ser)
c.653A>T
n.27-11553T>A
c.154A>T (p.Thr52Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.45267552C>ACA392252173SLC28A2,SLC28A2-AS1c.1040C>A (p.Thr347Asn)
c.654C>A
n.27-11554G>T
c.155C>A (p.Thr52Asn)
15g.45267552C>GCA392252175SLC28A2,SLC28A2-AS1c.1040C>G (p.Thr347Ser)
c.654C>G
n.27-11554G>C
c.155C>G (p.Thr52Ser)
15g.45267552C>TCA392252178SLC28A2,SLC28A2-AS1c.1040C>T (p.Thr347Ile)
c.654C>T
n.27-11554G>A
c.155C>T (p.Thr52Ile)
15g.45267553T>ACA490223485SLC28A2,SLC28A2-AS1c.1041T>A (p.Thr347=)
c.655T>A
n.27-11555A>T
c.156T>A (p.Thr52=)
15g.45267553T>CCA490223488SLC28A2,SLC28A2-AS1c.1041T>C (p.Thr347=)
c.655T>C
n.27-11555A>G
c.156T>C (p.Thr52=)
15g.45267553T>GCA490223490SLC28A2,SLC28A2-AS1c.1041T>G (p.Thr347=)
c.655T>G
n.27-11555A>C
c.156T>G (p.Thr52=)
15g.45267554G>ACA392252187SLC28A2,SLC28A2-AS1c.1042G>A (p.Val348Met)
c.656G>A
n.27-11556C>T
c.157G>A (p.Val53Met)
15g.45267554G>CCA392252188SLC28A2,SLC28A2-AS1c.1042G>C (p.Val348Leu)
c.656G>C
n.27-11556C>G
c.157G>C (p.Val53Leu)
15g.45267554G>TCA392252184SLC28A2,SLC28A2-AS1c.1042G>T (p.Val348Leu)
c.656G>T
n.27-11556C>A
c.157G>T (p.Val53Leu)
15g.45267555T>ACA392252189SLC28A2,SLC28A2-AS1c.1043T>A (p.Val348Glu)
c.657T>A
n.27-11557A>T
c.158T>A (p.Val53Glu)
15g.45267555T>CCA392252191SLC28A2,SLC28A2-AS1c.1043T>C (p.Val348Ala)
c.657T>C
n.27-11557A>G
c.158T>C (p.Val53Ala)
15g.45267555T>GCA392252193SLC28A2,SLC28A2-AS1c.1043T>G (p.Val348Gly)
c.657T>G
n.27-11557A>C
c.158T>G (p.Val53Gly)
15g.45267556G>ACA490223499SLC28A2,SLC28A2-AS1c.1044G>A (p.Val348=)
c.658G>A
n.27-11558C>T
c.159G>A (p.Val53=)
 gnomAD v4
15g.45267556G>CCA7542406SLC28A2,SLC28A2-AS1c.1044G>C (p.Val348=)
c.658G>C
n.27-11558C>G
c.159G>C (p.Val53=)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.45267556G=CA2174018044SLC28A2,SLC28A2-AS1c.1044G= (p.Val348=)
c.658G=
n.27-11558C=
c.159G= (p.Val53=)
15g.45267556G>TCA490223504SLC28A2,SLC28A2-AS1c.1044G>T (p.Val348=)
c.658G>T
n.27-11558C>A
c.159G>T (p.Val53=)
15g.45267557C>ACA392252200SLC28A2,SLC28A2-AS1c.1045C>A (p.Leu349Met)
c.659C>A
n.27-11559G>T
c.160C>A (p.Leu54Met)
15g.45267557C>GCA392252201SLC28A2,SLC28A2-AS1c.1045C>G (p.Leu349Val)
c.659C>G
n.27-11559G>C
c.160C>G (p.Leu54Val)
15g.45267557C>TCA490223509SLC28A2,SLC28A2-AS1c.1045C>T (p.Leu349=)
c.659C>T
n.27-11559G>A
c.160C>T (p.Leu54=)
15g.45267558T>ACA392252207SLC28A2,SLC28A2-AS1c.1046T>A (p.Leu349Gln)
c.660T>A
n.27-11560A>T
c.161T>A (p.Leu54Gln)
15g.45267558T>CCA392252209SLC28A2,SLC28A2-AS1c.1046T>C (p.Leu349Pro)
c.660T>C
n.27-11560A>G
c.161T>C (p.Leu54Pro)
15g.45267558T>GCA392252213SLC28A2,SLC28A2-AS1c.1046T>G (p.Leu349Arg)
c.660T>G
n.27-11560A>C
c.161T>G (p.Leu54Arg)
15g.45267559G>ACA490223514SLC28A2,SLC28A2-AS1c.1047G>A (p.Leu349=)
c.661G>A
n.27-11561C>T
c.162G>A (p.Leu54=)
15g.45267559G>CCA490223515SLC28A2,SLC28A2-AS1c.1047G>C (p.Leu349=)
c.661G>C
n.27-11561C>G
c.162G>C (p.Leu54=)
15g.45267559G>TCA490223518SLC28A2,SLC28A2-AS1c.1047G>T (p.Leu349=)
c.661G>T
n.27-11561C>A
c.162G>T (p.Leu54=)
15g.45267560G>ACA392252216SLC28A2,SLC28A2-AS1c.1048G>A (p.Gly350Arg)
c.662G>A
n.27-11562C>T
c.163G>A (p.Gly55Arg)
15g.45267560G>CCA392252218SLC28A2,SLC28A2-AS1c.1048G>C (p.Gly350Arg)
c.662G>C
n.27-11562C>G
c.163G>C (p.Gly55Arg)
15g.45267560G>TCA392252220SLC28A2,SLC28A2-AS1c.1048G>T (p.Gly350Ter)
c.662G>T
n.27-11562C>A
c.163G>T (p.Gly55Ter)
15g.45267561G>ACA392252226SLC28A2,SLC28A2-AS1c.1049G>A (p.Gly350Glu)
c.663G>A
n.27-11563C>T
c.164G>A (p.Gly55Glu)
 gnomAD v4
15g.45267561G>CCA392252229SLC28A2,SLC28A2-AS1c.1049G>C (p.Gly350Ala)
c.663G>C
n.27-11563C>G
c.164G>C (p.Gly55Ala)
 gnomAD v4
15g.45267561G>TCA392252223SLC28A2,SLC28A2-AS1c.1049G>T (p.Gly350Val)
c.663G>T
n.27-11563C>A
c.164G>T (p.Gly55Val)
15g.45267562A>CCA490223541SLC28A2,SLC28A2-AS1c.1050A>C (p.Gly350=)
c.664A>C
n.27-11564T>G
c.165A>C (p.Gly55=)
15g.45267562A>GCA490223546SLC28A2,SLC28A2-AS1c.1050A>G (p.Gly350=)
c.664A>G
n.27-11564T>C
c.165A>G (p.Gly55=)
15g.45267562A>TCA490223545SLC28A2,SLC28A2-AS1c.1050A>T (p.Gly350=)
c.664A>T
n.27-11564T>A
c.165A>T (p.Gly55=)
15g.45267563G>ACA392252232SLC28A2,SLC28A2-AS1c.1051G>A (p.Ala351Thr)
c.665G>A
n.27-11565C>T
c.166G>A (p.Ala56Thr)
 dbSNP gnomAD v2 gnomAD v4
15g.45267563G>CCA392252236SLC28A2,SLC28A2-AS1c.1051G>C (p.Ala351Pro)
c.665G>C
n.27-11565C>G
c.166G>C (p.Ala56Pro)
15g.45267563G=CA2174018045SLC28A2,SLC28A2-AS1c.1051G= (p.Ala351=)
c.665G=
n.27-11565C=
c.166G= (p.Ala56=)
15g.45267563G>TCA392252240SLC28A2,SLC28A2-AS1c.1051G>T (p.Ala351Ser)
c.665G>T
n.27-11565C>A
c.166G>T (p.Ala56Ser)
15g.45267564C>ACA392252256SLC28A2,SLC28A2-AS1c.1052C>A (p.Ala351Asp)
c.666C>A
n.27-11566G>T
c.167C>A (p.Ala56Asp)
15g.45267564C>GCA392252259SLC28A2,SLC28A2-AS1c.1052C>G (p.Ala351Gly)
c.666C>G
n.27-11566G>C
c.167C>G (p.Ala56Gly)
 gnomAD v4
15g.45267564C>TCA392252262SLC28A2,SLC28A2-AS1c.1052C>T (p.Ala351Val)
c.666C>T
n.27-11566G>A
c.167C>T (p.Ala56Val)
15g.45267565C>ACA490223551SLC28A2,SLC28A2-AS1c.1053C>A (p.Ala351=)
c.667C>A
n.27-11567G>T
c.168C>A (p.Ala56=)
15g.45267565C=CA2174018046SLC28A2,SLC28A2-AS1c.1053C= (p.Ala351=)
c.667C=
n.27-11567G=
c.168C= (p.Ala56=)
15g.45267565C>GCA490223553SLC28A2,SLC28A2-AS1c.1053C>G (p.Ala351=)
c.667C>G
n.27-11567G>C
c.168C>G (p.Ala56=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.45267565C>TCA490223554SLC28A2,SLC28A2-AS1c.1053C>T (p.Ala351=)
c.667C>T
n.27-11567G>A
c.168C>T (p.Ala56=)
 dbSNP gnomAD v2 gnomAD v4
15g.45267566T>ACA392252267SLC28A2,SLC28A2-AS1c.1054T>A (p.Phe352Ile)
c.668T>A
n.27-11568A>T
c.169T>A (p.Phe57Ile)
15g.45267566T>CCA392252275SLC28A2,SLC28A2-AS1c.1054T>C (p.Phe352Leu)
c.668T>C
n.27-11568A>G
c.169T>C (p.Phe57Leu)
15g.45267566T>GCA392252270SLC28A2,SLC28A2-AS1c.1054T>G (p.Phe352Val)
c.668T>G
n.27-11568A>C
c.169T>G (p.Phe57Val)
15g.45267567T>ACA392252280SLC28A2,SLC28A2-AS1c.1055T>A (p.Phe352Tyr)
c.669T>A
n.27-11569A>T
c.170T>A (p.Phe57Tyr)
15g.45267567T>CCA392252282SLC28A2,SLC28A2-AS1c.1055T>C (p.Phe352Ser)
c.669T>C
n.27-11569A>G
c.170T>C (p.Phe57Ser)
15g.45267567T>GCA392252285SLC28A2,SLC28A2-AS1c.1055T>G (p.Phe352Cys)
c.669T>G
n.27-11569A>C
c.170T>G (p.Phe57Cys)
15g.45267568C>ACA392252286SLC28A2,SLC28A2-AS1c.1056C>A (p.Phe352Leu)
c.670C>A
n.27-11570G>T
c.171C>A (p.Phe57Leu)
15g.45267568C=CA2174018047SLC28A2,SLC28A2-AS1c.1056C= (p.Phe352=)
c.670C=
n.27-11570G=
c.171C= (p.Phe57=)
15g.45267568C>GCA7542407SLC28A2,SLC28A2-AS1c.1056C>G (p.Phe352Leu)
c.670C>G
n.27-11570G>C
c.171C>G (p.Phe57Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.45267568C>TCA490223566SLC28A2,SLC28A2-AS1c.1056C>T (p.Phe352=)
c.670C>T
n.27-11570G>A
c.171C>T (p.Phe57=)
 dbSNP gnomAD v2 gnomAD v4
15g.45267569A=CA2174018048SLC28A2,SLC28A2-AS1c.1057A= (p.Ile353=)
c.671A=
n.27-11571T=
c.172A= (p.Ile58=)
15g.45267569A>CCA392252292SLC28A2,SLC28A2-AS1c.1057A>C (p.Ile353Leu)
c.671A>C
n.27-11571T>G
c.172A>C (p.Ile58Leu)
15g.45267569A>GCA392252293SLC28A2,SLC28A2-AS1c.1057A>G (p.Ile353Val)
c.671A>G
n.27-11571T>C
c.172A>G (p.Ile58Val)
 dbSNP gnomAD v4
15g.45267569A>TCA392252289SLC28A2,SLC28A2-AS1c.1057A>T (p.Ile353Leu)
c.671A>T
n.27-11571T>A
c.172A>T (p.Ile58Leu)
15g.45267570T>ACA392252302SLC28A2,SLC28A2-AS1c.1058T>A (p.Ile353Lys)
c.672T>A
n.27-11572A>T
c.173T>A (p.Ile58Lys)
15g.45267570T>CCA392252297SLC28A2,SLC28A2-AS1c.1058T>C (p.Ile353Thr)
c.672T>C
n.27-11572A>G
c.173T>C (p.Ile58Thr)
15g.45267570T>GCA392252305SLC28A2,SLC28A2-AS1c.1058T>G (p.Ile353Arg)
c.672T>G
n.27-11572A>C
c.173T>G (p.Ile58Arg)
15g.45267571A>CCA490223578SLC28A2,SLC28A2-AS1c.1059A>C (p.Ile353=)
c.673A>C
n.27-11573T>G
c.174A>C (p.Ile58=)
15g.45267571A>GCA392252309SLC28A2,SLC28A2-AS1c.1059A>G (p.Ile353Met)
c.673A>G
n.27-11573T>C
c.174A>G (p.Ile58Met)
15g.45267571A>TCA490223581SLC28A2,SLC28A2-AS1c.1059A>T (p.Ile353=)
c.673A>T
n.27-11573T>A
c.174A>T (p.Ile58=)
15g.45267572G>ACA7542408SLC28A2,SLC28A2-AS1c.1060G>A (p.Ala354Thr)
c.674G>A
n.27-11574C>T
c.175G>A (p.Ala59Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.45267572G>CCA392252312SLC28A2,SLC28A2-AS1c.1060G>C (p.Ala354Pro)
c.674G>C
n.27-11574C>G
c.175G>C (p.Ala59Pro)
15g.45267572G=CA2174018049SLC28A2,SLC28A2-AS1c.1060G= (p.Ala354=)
c.674G=
n.27-11574C=
c.175G= (p.Ala59=)
15g.45267572G>TCA392252316SLC28A2,SLC28A2-AS1c.1060G>T (p.Ala354Ser)
c.674G>T
n.27-11574C>A
c.175G>T (p.Ala59Ser)
 COSMIC
15g.45267573C>ACA392252323SLC28A2,SLC28A2-AS1c.1061C>A (p.Ala354Asp)
c.675C>A
n.27-11575G>T
c.176C>A (p.Ala59Asp)
15g.45267573C=CA2174018050SLC28A2,SLC28A2-AS1c.1061C= (p.Ala354=)
c.675C=
n.27-11575G=
c.176C= (p.Ala59=)
15g.45267573C>GCA392252326SLC28A2,SLC28A2-AS1c.1061C>G (p.Ala354Gly)
c.675C>G
n.27-11575G>C
c.176C>G (p.Ala59Gly)
 dbSNP
15g.45267573C>TCA392252330SLC28A2,SLC28A2-AS1c.1061C>T (p.Ala354Val)
c.675C>T
n.27-11575G>A
c.176C>T (p.Ala59Val)
 gnomAD v4
15g.45267574C>ACA490223604SLC28A2,SLC28A2-AS1c.1062C>A (p.Ala354=)
c.676C>A
n.27-11576G>T
c.177C>A (p.Ala59=)
 COSMIC
15g.45267574C>GCA490223607SLC28A2,SLC28A2-AS1c.1062C>G (p.Ala354=)
c.676C>G
n.27-11576G>C
c.177C>G (p.Ala59=)
15g.45267574C>TCA490223610SLC28A2,SLC28A2-AS1c.1062C>T (p.Ala354=)
c.676C>T
n.27-11576G>A
c.177C>T (p.Ala59=)
15g.45267575T>ACA392252332SLC28A2,SLC28A2-AS1c.1063T>A (p.Phe355Ile)
c.677T>A
n.27-11577A>T
c.178T>A (p.Phe60Ile)
15g.45267575T>CCA392252334SLC28A2,SLC28A2-AS1c.1063T>C (p.Phe355Leu)
c.677T>C
n.27-11577A>G
c.178T>C (p.Phe60Leu)
15g.45267575T>GCA392252337SLC28A2,SLC28A2-AS1c.1063T>G (p.Phe355Val)
c.677T>G
n.27-11577A>C
c.178T>G (p.Phe60Val)
15g.45267577delCA2730731767SLC28A2,SLC28A2-AS1c.1065del (p.Phe355LeufsTer8)
c.679del
n.27-11577del
c.180del (p.Phe60LeufsTer8)
 dbSNP
15g.45267576T>ACA392252341SLC28A2,SLC28A2-AS1c.1064T>A (p.Phe355Tyr)
c.678T>A
n.27-11578A>T
c.179T>A (p.Phe60Tyr)
 gnomAD v4
15g.45267576T>CCA7542409SLC28A2,SLC28A2-AS1c.1064T>C (p.Phe355Ser)
c.678T>C
n.27-11578A>G
c.179T>C (p.Phe60Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.45267576T>GCA392252348SLC28A2,SLC28A2-AS1c.1064T>G (p.Phe355Cys)
c.678T>G
n.27-11578A>C
c.179T>G (p.Phe60Cys)
15g.45267576T=CA2174018051SLC28A2,SLC28A2-AS1c.1064T= (p.Phe355=)
c.678T=
n.27-11578A=
c.179T= (p.Phe60=)
15g.45267577T>ACA392252352SLC28A2,SLC28A2-AS1c.1065T>A (p.Phe355Leu)
c.679T>A
n.27-11579A>T
c.180T>A (p.Phe60Leu)
15g.45267577T>CCA490223633SLC28A2,SLC28A2-AS1c.1065T>C (p.Phe355=)
c.679T>C
n.27-11579A>G
c.180T>C (p.Phe60=)
15g.45267577T>GCA392252354SLC28A2,SLC28A2-AS1c.1065T>G (p.Phe355Leu)
c.679T>G
n.27-11579A>C
c.180T>G (p.Phe60Leu)
15g.45267578G>ACA392252357SLC28A2,SLC28A2-AS1c.1066G>A (p.Gly356Arg)
c.680G>A
n.27-11580C>T
c.181G>A (p.Gly61Arg)
 dbSNP gnomAD v2 gnomAD v4
15g.45267578G>CCA392252359SLC28A2,SLC28A2-AS1c.1066G>C (p.Gly356Arg)
c.680G>C
n.27-11580C>G
c.181G>C (p.Gly61Arg)
15g.45267578G=CA2174018052SLC28A2,SLC28A2-AS1c.1066G= (p.Gly356=)
c.680G=
n.27-11580C=
c.181G= (p.Gly61=)
15g.45267578G>TCA392252362SLC28A2,SLC28A2-AS1c.1066G>T (p.Gly356Trp)
c.680G>T
n.27-11580C>A
c.181G>T (p.Gly61Trp)
15g.45267579G>ACA392252372SLC28A2,SLC28A2-AS1c.1067G>A (p.Gly356Glu)
c.681G>A
n.27-11581C>T
c.182G>A (p.Gly61Glu)
 dbSNP gnomAD v2 gnomAD v4
15g.45267579G>CCA392252375SLC28A2,SLC28A2-AS1c.1067G>C (p.Gly356Ala)
c.681G>C
n.27-11581C>G
c.182G>C (p.Gly61Ala)
15g.45267579G=CA2174018053SLC28A2,SLC28A2-AS1c.1067G= (p.Gly356=)
c.681G=
n.27-11581C=
c.182G= (p.Gly61=)
15g.45267579G>TCA392252377SLC28A2,SLC28A2-AS1c.1067G>T (p.Gly356Val)
c.681G>T
n.27-11581C>A
c.182G>T (p.Gly61Val)
15g.45267580G>ACA270137365SLC28A2,SLC28A2-AS1c.1068G>A (p.Gly356=)
c.682G>A
n.27-11582C>T
c.183G>A (p.Gly61=)
 dbSNP gnomAD v4
15g.45267580G>CCA490223661SLC28A2,SLC28A2-AS1c.1068G>C (p.Gly356=)
c.682G>C
n.27-11582C>G
c.183G>C (p.Gly61=)
15g.45267580G=CA2174018054SLC28A2,SLC28A2-AS1c.1068G= (p.Gly356=)
c.682G=
n.27-11582C=
c.183G= (p.Gly61=)
15g.45267580G>TCA490223664SLC28A2,SLC28A2-AS1c.1068G>T (p.Gly356=)
c.682G>T
n.27-11582C>A
c.183G>T (p.Gly61=)
15g.45267581G>ACA392252380SLC28A2,SLC28A2-AS1c.1068+1G>A (n.1068+1G>A)
c.682+1G>A
n.27-11583C>T
c.183+1G>A (n.183+1G>A)
15g.45267581G>CCA392252381SLC28A2,SLC28A2-AS1c.1068+1G>C (n.1068+1G>C)
c.682+1G>C
n.27-11583C>G
c.183+1G>C (n.183+1G>C)
 dbSNP
15g.45267581G=CA2174018055SLC28A2,SLC28A2-AS1c.1068+1G= (n.1068+1G=)
c.682+1G=
n.27-11583C=
c.183+1G= (n.183+1G=)
15g.45267581G>TCA392252383SLC28A2,SLC28A2-AS1c.1068+1G>T (n.1068+1G>T)
c.682+1G>T
n.27-11583C>A
c.183+1G>T (n.183+1G>T)
 gnomAD v4
15g.45267582T>ACA392252387SLC28A2,SLC28A2-AS1c.1068+2T>A (n.1068+2T>A)
c.682+2T>A
n.27-11584A>T
c.183+2T>A (n.183+2T>A)
15g.45267582T>CCA7542410SLC28A2,SLC28A2-AS1c.1068+2T>C (n.1068+2T>C)
c.682+2T>C
n.27-11584A>G
c.183+2T>C (n.183+2T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.45267582T>GCA392252391SLC28A2,SLC28A2-AS1c.1068+2T>G (n.1068+2T>G)
c.682+2T>G
n.27-11584A>C
c.183+2T>G (n.183+2T>G)
15g.45267582T=CA2174018056SLC28A2,SLC28A2-AS1c.1068+2T= (n.1068+2T=)
c.682+2T=
n.27-11584A=
c.183+2T= (n.183+2T=)
15g.45267583A>GCA2575712973SLC28A2,SLC28A2-AS1c.1068+3A>G (n.1068+3A>G)
c.682+3A>G
n.27-11585T>C
c.183+3A>G (n.183+3A>G)
 gnomAD v4
15g.45267584G>ACA2174018058SLC28A2,SLC28A2-AS1c.1068+4G>A (n.1068+4G>A)
c.682+4G>A
n.27-11586C>T
c.183+4G>A (n.183+4G>A)
 dbSNP gnomAD v4
15g.45267584G>CCA2628264927SLC28A2,SLC28A2-AS1c.1068+4G>C (n.1068+4G>C)
c.682+4G>C
n.27-11586C>G
c.183+4G>C (n.183+4G>C)
 gnomAD v4
15g.45267584G=CA2174018057SLC28A2,SLC28A2-AS1c.1068+4G= (n.1068+4G=)
c.682+4G=
n.27-11586C=
c.183+4G= (n.183+4G=)
15g.45267584G>TCA270137371SLC28A2,SLC28A2-AS1c.1068+4G>T (n.1068+4G>T)
c.682+4G>T
n.27-11586C>A
c.183+4G>T (n.183+4G>T)
 dbSNP gnomAD v4
15g.45267585G>ACA2628264928SLC28A2,SLC28A2-AS1c.1068+5G>A (n.1068+5G>A)
c.682+5G>A
n.27-11587C>T
c.183+5G>A (n.183+5G>A)
 gnomAD v4

Number of alleles fetched