Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.73683300C>A | CA367827957 | BUD23,DNAJC30 | c.124G>T (p.Asp42Tyr) n.276C>A | gnomAD v4 |
7 | g.73683300C>G | CA367827959 | BUD23,DNAJC30 | c.124G>C (p.Asp42His) n.276C>G | |
7 | g.73683300C>T | CA367827962 | BUD23,DNAJC30 | c.124G>A (p.Asp42Asn) n.276C>T | |
7 | g.73683301G>A | CA4289999 | BUD23,DNAJC30 | c.123C>T (p.Gly41=) n.277G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683301G>C | CA456052913 | BUD23,DNAJC30 | c.123C>G (p.Gly41=) n.277G>C | |
7 | g.73683301G= | CA1717166418 | BUD23,DNAJC30 | c.123C= (p.Gly41=) n.277G= | |
7 | g.73683301G>T | CA456052912 | BUD23,DNAJC30 | c.123C>A (p.Gly41=) n.277G>T | |
7 | g.73683302C>A | CA367827967 | BUD23,DNAJC30 | c.122G>T (p.Gly41Val) n.278C>A | |
7 | g.73683302C>G | CA367827966 | BUD23,DNAJC30 | c.122G>C (p.Gly41Ala) n.278C>G | |
7 | g.73683302C>T | CA367827965 | BUD23,DNAJC30 | c.122G>A (p.Gly41Asp) n.278C>T | |
7 | g.73683303C>A | CA367827968 | BUD23,DNAJC30 | c.121G>T (p.Gly41Cys) n.279C>A | |
7 | g.73683303C= | CA1717166419 | BUD23,DNAJC30 | c.121G= (p.Gly41=) n.279C= | |
7 | g.73683303C>G | CA367827970 | BUD23,DNAJC30 | c.121G>C (p.Gly41Arg) n.279C>G | |
7 | g.73683303C>T | CA4290000 | BUD23,DNAJC30 | c.121G>A (p.Gly41Ser) n.279C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683304C>A | CA367827974 | BUD23,DNAJC30 | c.120G>T (p.Gln40His) n.280C>A | |
7 | g.73683304C= | CA1717166420 | BUD23,DNAJC30 | c.120G= (p.Gln40=) n.280C= | |
7 | g.73683304C>G | CA367827976 | BUD23,DNAJC30 | c.120G>C (p.Gln40His) n.280C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683304C>T | CA4290001 | BUD23,DNAJC30 | c.120G>A (p.Gln40=) n.280C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683305T>A | CA367827980 | BUD23,DNAJC30 | c.119A>T (p.Gln40Leu) n.281T>A | |
7 | g.73683305T>C | CA367827982 | BUD23,DNAJC30 | c.119A>G (p.Gln40Arg) n.281T>C | |
7 | g.73683305T>G | CA367827985 | BUD23,DNAJC30 | c.119A>C (p.Gln40Pro) n.281T>G | |
7 | g.73683306G>A | CA367827989 | BUD23,DNAJC30 | c.118C>T (p.Gln40Ter) n.282G>A | |
7 | g.73683306G>C | CA367827990 | BUD23,DNAJC30 | c.118C>G (p.Gln40Glu) n.282G>C | gnomAD v4 |
7 | g.73683306G>T | CA367827993 | BUD23,DNAJC30 | c.118C>A (p.Gln40Lys) n.282G>T | |
7 | g.73683307G>A | CA456052921 | BUD23,DNAJC30 | c.117C>T (p.Ser39=) n.283G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683307G>C | CA456052919 | BUD23,DNAJC30 | c.117C>G (p.Ser39=) n.283G>C | |
7 | g.73683307G= | CA1717166421 | BUD23,DNAJC30 | c.117C= (p.Ser39=) n.283G= | |
7 | g.73683307G>T | CA456052920 | BUD23,DNAJC30 | c.117C>A (p.Ser39=) n.283G>T | |
7 | g.73683308G>A | CA367828002 | BUD23,DNAJC30 | c.116C>T (p.Ser39Phe) n.284G>A | |
7 | g.73683308G>C | CA367827999 | BUD23,DNAJC30 | c.116C>G (p.Ser39Cys) n.284G>C | |
7 | g.73683308G>T | CA367827997 | BUD23,DNAJC30 | c.116C>A (p.Ser39Tyr) n.284G>T | |
7 | g.73683309A>C | CA367828006 | BUD23,DNAJC30 | c.115T>G (p.Ser39Ala) n.285A>C | |
7 | g.73683309A>G | CA367828007 | BUD23,DNAJC30 | c.115T>C (p.Ser39Pro) n.285A>G | |
7 | g.73683309A>T | CA367828011 | BUD23,DNAJC30 | c.115T>A (p.Ser39Thr) n.285A>T | |
7 | g.73683310A= | CA1717166422 | BUD23,DNAJC30 | c.114T= (p.Tyr38=) n.286A= | |
7 | g.73683310A>C | CA367828014 | BUD23,DNAJC30 | c.114T>G (p.Tyr38Ter) n.286A>C | |
7 | g.73683310A>G | CA4290002 | BUD23,DNAJC30 | c.114T>C (p.Tyr38=) n.286A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683310A>T | CA367828020 | BUD23,DNAJC30 | c.114T>A (p.Tyr38Ter) n.286A>T | |
7 | g.73683311T>A | CA367828024 | BUD23,DNAJC30 | c.113A>T (p.Tyr38Phe) n.287T>A | |
7 | g.73683311T>C | CA367828027 | BUD23,DNAJC30 | c.113A>G (p.Tyr38Cys) n.287T>C | |
7 | g.73683311T>G | CA4290003 | BUD23,DNAJC30 | c.113A>C (p.Tyr38Ser) n.287T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683311T= | CA1717166423 | BUD23,DNAJC30 | c.113A= (p.Tyr38=) n.287T= | |
7 | g.73683312A= | CA1717166424 | BUD23,DNAJC30 | c.112T= (p.Tyr38=) n.288A= | |
7 | g.73683312A>C | CA367828031 | BUD23,DNAJC30 | c.112T>G (p.Tyr38Asp) n.288A>C | |
7 | g.73683312A>G | CA367828033 | BUD23,DNAJC30 | c.112T>C (p.Tyr38His) n.288A>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683312A>T | CA367828035 | BUD23,DNAJC30 | c.112T>A (p.Tyr38Asn) n.288A>T | |
7 | g.73683313A= | CA1717166425 | BUD23,DNAJC30 | c.111T= (p.Thr37=) n.289A= | |
7 | g.73683313A>C | CA456052931 | BUD23,DNAJC30 | c.111T>G (p.Thr37=) n.289A>C | gnomAD v4 |
7 | g.73683313A>G | CA4290004 | BUD23,DNAJC30 | c.111T>C (p.Thr37=) n.289A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683313A>T | CA456052929 | BUD23,DNAJC30 | c.111T>A (p.Thr37=) n.289A>T | |
7 | g.73683314G>A | CA367828040 | BUD23,DNAJC30 | c.110C>T (p.Thr37Ile) n.290G>A | gnomAD v4 |
7 | g.73683314G>C | CA367828043 | BUD23,DNAJC30 | c.110C>G (p.Thr37Ser) n.290G>C | gnomAD v4 |
7 | g.73683314G>T | CA367828038 | BUD23,DNAJC30 | c.110C>A (p.Thr37Asn) n.290G>T | gnomAD v4 |
7 | g.73683315T>A | CA367828048 | BUD23,DNAJC30 | c.109A>T (p.Thr37Ser) n.291T>A | |
7 | g.73683315T>C | CA367828046 | BUD23,DNAJC30 | c.109A>G (p.Thr37Ala) n.291T>C | |
7 | g.73683315T>G | CA367828050 | BUD23,DNAJC30 | c.109A>C (p.Thr37Pro) n.291T>G | |
7 | g.73683316C>A | CA367828053 | BUD23,DNAJC30 | c.108G>T (p.Arg36Ser) n.292C>A | |
7 | g.73683316C= | CA1717166426 | BUD23,DNAJC30 | c.108G= (p.Arg36=) n.292C= | |
7 | g.73683316C>G | CA367828055 | BUD23,DNAJC30 | c.108G>C (p.Arg36Ser) n.292C>G | gnomAD v4 |
7 | g.73683316C>T | CA160072706 | BUD23,DNAJC30 | c.108G>A (p.Arg36=) n.292C>T | dbSNP gnomAD v4 |
7 | g.73683317C>A | CA367828058 | BUD23,DNAJC30 | c.107G>T (p.Arg36Met) n.293C>A | |
7 | g.73683317C>G | CA367828061 | BUD23,DNAJC30 | c.107G>C (p.Arg36Thr) n.293C>G | |
7 | g.73683317C>T | CA367828063 | BUD23,DNAJC30 | c.107G>A (p.Arg36Lys) n.293C>T | COSMIC |
7 | g.73683318T>A | CA367828066 | BUD23,DNAJC30 | c.106A>T (p.Arg36Trp) n.294T>A | |
7 | g.73683318T>C | CA367828069 | BUD23,DNAJC30 | c.106A>G (p.Arg36Gly) n.294T>C | |
7 | g.73683318T>G | CA456052935 | BUD23,DNAJC30 | c.106A>C (p.Arg36=) n.294T>G | |
7 | g.73683319C>A | CA456052941 | BUD23,DNAJC30 | c.105G>T (p.Ala35=) n.295C>A | |
7 | g.73683319C>G | CA456052942 | BUD23,DNAJC30 | c.105G>C (p.Ala35=) n.295C>G | |
7 | g.73683319C>T | CA456052939 | BUD23,DNAJC30 | c.105G>A (p.Ala35=) n.295C>T | |
7 | g.73683320G>A | CA367828071 | BUD23,DNAJC30 | c.104C>T (p.Ala35Val) n.296G>A | gnomAD v4 |
7 | g.73683320G>C | CA367828075 | BUD23,DNAJC30 | c.104C>G (p.Ala35Gly) n.296G>C | |
7 | g.73683320G>T | CA367828078 | BUD23,DNAJC30 | c.104C>A (p.Ala35Glu) n.296G>T | |
7 | g.73683321C>A | CA4290005 | BUD23,DNAJC30 | c.103G>T (p.Ala35Ser) n.297C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683321C= | CA1717166427 | BUD23,DNAJC30 | c.103G= (p.Ala35=) n.297C= | |
7 | g.73683321C>G | CA367828085 | BUD23,DNAJC30 | c.103G>C (p.Ala35Pro) n.297C>G | |
7 | g.73683321C>T | CA367828087 | BUD23,DNAJC30 | c.103G>A (p.Ala35Thr) n.297C>T | |
7 | g.73683322T>A | CA456052949 | BUD23,DNAJC30 | c.102A>T (p.Gly34=) n.298T>A | gnomAD v4 COSMIC |
7 | g.73683322T>C | CA456052950 | BUD23,DNAJC30 | c.102A>G (p.Gly34=) n.298T>C | |
7 | g.73683322T>G | CA456052948 | BUD23,DNAJC30 | c.102A>C (p.Gly34=) n.298T>G | |
7 | g.73683323C>A | CA367828094 | BUD23,DNAJC30 | c.101G>T (p.Gly34Val) n.299C>A | |
7 | g.73683323C>G | CA367828092 | BUD23,DNAJC30 | c.101G>C (p.Gly34Ala) n.299C>G | |
7 | g.73683323C>T | CA367828090 | BUD23,DNAJC30 | c.101G>A (p.Gly34Glu) n.299C>T | |
7 | g.73683324C>A | CA367828097 | BUD23,DNAJC30 | c.100G>T (p.Gly34Ter) n.300C>A | |
7 | g.73683324C= | CA1717166428 | BUD23,DNAJC30 | c.100G= (p.Gly34=) n.300C= | |
7 | g.73683324C>G | CA367828098 | BUD23,DNAJC30 | c.100G>C (p.Gly34Arg) n.300C>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683324C>T | CA4290006 | BUD23,DNAJC30 | c.100G>A (p.Gly34Arg) n.300C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683325T>A | CA456052954 | BUD23,DNAJC30 | c.99A>T (p.Leu33=) n.301T>A | |
7 | g.73683325T>C | CA456052953 | BUD23,DNAJC30 | c.99A>G (p.Leu33=) n.301T>C | |
7 | g.73683325T>G | CA456052952 | BUD23,DNAJC30 | c.99A>C (p.Leu33=) n.301T>G | |
7 | g.73683326A= | CA1717166429 | BUD23,DNAJC30 | c.98T= (p.Leu33=) n.302A= | |
7 | g.73683326A>C | CA367828104 | BUD23,DNAJC30 | c.98T>G (p.Leu33Arg) n.302A>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683326A>G | CA367828106 | BUD23,DNAJC30 | c.98T>C (p.Leu33Pro) n.302A>G | |
7 | g.73683326A>T | CA367828108 | BUD23,DNAJC30 | c.98T>A (p.Leu33Gln) n.302A>T | |
7 | g.73683327G>A | CA456052960 | BUD23,DNAJC30 | c.97C>T (p.Leu33=) n.303G>A | |
7 | g.73683327G>C | CA367828112 | BUD23,DNAJC30 | c.97C>G (p.Leu33Val) n.303G>C | |
7 | g.73683327G>T | CA367828114 | BUD23,DNAJC30 | c.97C>A (p.Leu33Ile) n.303G>T | |
7 | g.73683328G>A | CA456052970 | BUD23,DNAJC30 | c.96C>T (p.Gly32=) n.304G>A | |
7 | g.73683328G>C | CA456052966 | BUD23,DNAJC30 | c.96C>G (p.Gly32=) n.304G>C | |
7 | g.73683328G>T | CA456052968 | BUD23,DNAJC30 | c.96C>A (p.Gly32=) n.304G>T | |
7 | g.73683329C>A | CA367828117 | BUD23,DNAJC30 | c.95G>T (p.Gly32Val) n.305C>A | |
7 | g.73683329C= | CA1717166430 | BUD23,DNAJC30 | c.95G= (p.Gly32=) n.305C= | |
7 | g.73683329C>G | CA367828120 | BUD23,DNAJC30 | c.95G>C (p.Gly32Ala) n.305C>G | |
7 | g.73683329C>T | CA367828123 | BUD23,DNAJC30 | c.95G>A (p.Gly32Asp) n.305C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683330C>A | CA4290007 | BUD23,DNAJC30 | c.94G>T (p.Gly32Cys) n.306C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683330C= | CA1717166431 | BUD23,DNAJC30 | c.94G= (p.Gly32=) n.306C= | |
7 | g.73683330C>G | CA367828127 | BUD23,DNAJC30 | c.94G>C (p.Gly32Arg) n.306C>G | gnomAD v4 |
7 | g.73683330C>T | CA367828129 | BUD23,DNAJC30 | c.94G>A (p.Gly32Ser) n.306C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683331C>A | CA456052978 | BUD23,DNAJC30 | c.93G>T (p.Leu31=) n.307C>A | |
7 | g.73683331C>G | CA456052976 | BUD23,DNAJC30 | c.93G>C (p.Leu31=) n.307C>G | |
7 | g.73683331C>T | CA456052973 | BUD23,DNAJC30 | c.93G>A (p.Leu31=) n.307C>T | |
7 | g.73683332A= | CA1717166432 | BUD23,DNAJC30 | c.92T= (p.Leu31=) n.308A= | |
7 | g.73683332A>C | CA367828132 | BUD23,DNAJC30 | c.92T>G (p.Leu31Arg) n.308A>C | dbSNP |
7 | g.73683332A>G | CA367828131 | BUD23,DNAJC30 | c.92T>C (p.Leu31Pro) n.308A>G | |
7 | g.73683332A>T | CA367828130 | BUD23,DNAJC30 | c.92T>A (p.Leu31Gln) n.308A>T | |
7 | g.73683333G>A | CA4290008 | BUD23,DNAJC30 | c.91C>T (p.Leu31=) n.309G>A | dbSNP ExAC gnomAD v2 |
7 | g.73683333G>C | CA4290009 | BUD23,DNAJC30 | c.91C>G (p.Leu31Val) n.309G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683333G= | CA1717166433 | BUD23,DNAJC30 | c.91C= (p.Leu31=) n.309G= | |
7 | g.73683333G>T | CA367828133 | BUD23,DNAJC30 | c.91C>A (p.Leu31Met) n.309G>T | |
7 | g.73683334G>A | CA160072724 | BUD23,DNAJC30 | c.90C>T (p.Ser30=) n.310G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.73683334G>C | CA367828138 | BUD23,DNAJC30 | c.90C>G (p.Ser30Arg) n.310G>C | |
7 | g.73683334G= | CA1717166434 | BUD23,DNAJC30 | c.90C= (p.Ser30=) n.310G= | |
7 | g.73683334G>T | CA367828140 | BUD23,DNAJC30 | c.90C>A (p.Ser30Arg) n.310G>T | gnomAD v4 |
7 | g.73683335C>A | CA367828143 | BUD23,DNAJC30 | c.89G>T (p.Ser30Ile) n.311C>A | |
7 | g.73683335C= | CA1717166435 | BUD23,DNAJC30 | c.89G= (p.Ser30=) n.311C= | |
7 | g.73683335C>G | CA367828145 | BUD23,DNAJC30 | c.89G>C (p.Ser30Thr) n.311C>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683335C>T | CA4290010 | BUD23,DNAJC30 | c.89G>A (p.Ser30Asn) n.311C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683336T>A | CA367828151 | BUD23,DNAJC30 | c.88A>T (p.Ser30Cys) n.312T>A | |
7 | g.73683336T>C | CA367828153 | BUD23,DNAJC30 | c.88A>G (p.Ser30Gly) n.312T>C | |
7 | g.73683336T>G | CA367828154 | BUD23,DNAJC30 | c.88A>C (p.Ser30Arg) n.312T>G | |
7 | g.73683337G>A | CA4290011 | BUD23,DNAJC30 | c.87C>T (p.Pro29=) n.313G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683337G>C | CA456052984 | BUD23,DNAJC30 | c.87C>G (p.Pro29=) n.313G>C | gnomAD v4 |
7 | g.73683337G= | CA1717166436 | BUD23,DNAJC30 | c.87C= (p.Pro29=) n.313G= | |
7 | g.73683337G>T | CA456052985 | BUD23,DNAJC30 | c.87C>A (p.Pro29=) n.313G>T | gnomAD v4 |
7 | g.73683338G>A | CA367828163 | BUD23,DNAJC30 | c.86C>T (p.Pro29Leu) n.314G>A | |
7 | g.73683338G>C | CA367828159 | BUD23,DNAJC30 | c.86C>G (p.Pro29Arg) n.314G>C | |
7 | g.73683338G>T | CA367828161 | BUD23,DNAJC30 | c.86C>A (p.Pro29His) n.314G>T | |
7 | g.73683339G>A | CA367828167 | BUD23,DNAJC30 | c.85C>T (p.Pro29Ser) n.315G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683339G>C | CA367828168 | BUD23,DNAJC30 | c.85C>G (p.Pro29Ala) n.315G>C | |
7 | g.73683339G= | CA1717166437 | BUD23,DNAJC30 | c.85C= (p.Pro29=) n.315G= | |
7 | g.73683339G>T | CA367828172 | BUD23,DNAJC30 | c.85C>A (p.Pro29Thr) n.315G>T | |
7 | g.73683340T>A | CA456052991 | BUD23,DNAJC30 | c.84A>T (p.Ala28=) n.316T>A | |
7 | g.73683340T>C | CA456052994 | BUD23,DNAJC30 | c.84A>G (p.Ala28=) n.316T>C | COSMIC |
7 | g.73683340T>G | CA456052993 | BUD23,DNAJC30 | c.84A>C (p.Ala28=) n.316T>G | |
7 | g.73683341G>A | CA367828175 | BUD23,DNAJC30 | c.83C>T (p.Ala28Val) n.317G>A | |
7 | g.73683341G>C | CA367828178 | BUD23,DNAJC30 | c.83C>G (p.Ala28Gly) n.317G>C | |
7 | g.73683341G>T | CA367828180 | BUD23,DNAJC30 | c.83C>A (p.Ala28Glu) n.317G>T | |
7 | g.73683342C>A | CA4290012 | BUD23,DNAJC30 | c.82G>T (p.Ala28Ser) n.318C>A | dbSNP ExAC gnomAD v2 |
7 | g.73683342C= | CA1717166438 | BUD23,DNAJC30 | c.82G= (p.Ala28=) n.318C= | |
7 | g.73683342C>G | CA367828185 | BUD23,DNAJC30 | c.82G>C (p.Ala28Pro) n.318C>G | |
7 | g.73683342C>T | CA367828187 | BUD23,DNAJC30 | c.82G>A (p.Ala28Thr) n.318C>T | |
7 | g.73683343A>C | CA456052998 | BUD23,DNAJC30 | c.81T>G (p.Ser27=) n.319A>C | |
7 | g.73683343A>G | CA456052999 | BUD23,DNAJC30 | c.81T>C (p.Ser27=) n.319A>G | gnomAD v4 |
7 | g.73683343A>T | CA456053000 | BUD23,DNAJC30 | c.81T>A (p.Ser27=) n.319A>T | |
7 | g.73683344G>A | CA367828201 | BUD23,DNAJC30 | c.80C>T (p.Ser27Phe) n.320G>A | |
7 | g.73683344G>C | CA4290013 | BUD23,DNAJC30 | c.80C>G (p.Ser27Cys) n.320G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683344G= | CA1717166439 | BUD23,DNAJC30 | c.80C= (p.Ser27=) n.320G= | |
7 | g.73683344G>T | CA367828202 | BUD23,DNAJC30 | c.80C>A (p.Ser27Tyr) n.320G>T | |
7 | g.73683345A>C | CA367828205 | BUD23,DNAJC30 | c.79T>G (p.Ser27Ala) n.321A>C | |
7 | g.73683345A>G | CA367828210 | BUD23,DNAJC30 | c.79T>C (p.Ser27Pro) n.321A>G | gnomAD v4 |
7 | g.73683345A>T | CA367828206 | BUD23,DNAJC30 | c.79T>A (p.Ser27Thr) n.321A>T | |
7 | g.73683346A>C | CA367828214 | BUD23,DNAJC30 | c.78T>G (p.Asn26Lys) n.322A>C | |
7 | g.73683346A>G | CA456053008 | BUD23,DNAJC30 | c.78T>C (p.Asn26=) n.322A>G | |
7 | g.73683346A>T | CA367828217 | BUD23,DNAJC30 | c.78T>A (p.Asn26Lys) n.322A>T | |
7 | g.73683347T>A | CA367828220 | BUD23,DNAJC30 | c.77A>T (p.Asn26Ile) n.323T>A | |
7 | g.73683347T>C | CA367828224 | BUD23,DNAJC30 | c.77A>G (p.Asn26Ser) n.323T>C | |
7 | g.73683347T>G | CA367828228 | BUD23,DNAJC30 | c.77A>C (p.Asn26Thr) n.323T>G | |
7 | g.73683348T>A | CA367828232 | BUD23,DNAJC30 | c.76A>T (p.Asn26Tyr) n.324T>A | gnomAD v4 |
7 | g.73683348T>C | CA367828234 | BUD23,DNAJC30 | c.76A>G (p.Asn26Asp) n.324T>C | |
7 | g.73683348T>G | CA367828236 | BUD23,DNAJC30 | c.76A>C (p.Asn26His) n.324T>G | |
7 | g.73683349T>A | CA367828243 | BUD23,DNAJC30 | c.75A>T (p.Gln25His) n.325T>A | |
7 | g.73683349T>C | CA456053013 | BUD23,DNAJC30 | c.75A>G (p.Gln25=) n.325T>C | dbSNP gnomAD v4 |
7 | g.73683349T>G | CA367828245 | BUD23,DNAJC30 | c.75A>C (p.Gln25His) n.325T>G | |
7 | g.73683350T>A | CA367828247 | BUD23,DNAJC30 | c.74A>T (p.Gln25Leu) n.326T>A | |
7 | g.73683350T>C | CA367828250 | BUD23,DNAJC30 | c.74A>G (p.Gln25Arg) n.326T>C | |
7 | g.73683350T>G | CA367828252 | BUD23,DNAJC30 | c.74A>C (p.Gln25Pro) n.326T>G | |
7 | g.73683350_73683364delinsTGTGGAAAGCCACGG | CA1717166440 | BUD23,DNAJC30 | c.60_74delinsCCGTGGCTTTCCACA (p.Ala20=) n.326_340delinsTGTGGAAAGCCACGG | |
7 | g.73683351G>A | CA367828262 | BUD23,DNAJC30 | c.73C>T (p.Gln25Ter) n.327G>A | |
7 | g.73683351G>C | CA367828255 | BUD23,DNAJC30 | c.73C>G (p.Gln25Glu) n.327G>C | |
7 | g.73683351G>T | CA367828257 | BUD23,DNAJC30 | c.73C>A (p.Gln25Lys) n.327G>T | |
7 | g.73683352_73683365del | CA842010822 | BUD23,DNAJC30 | c.60_73del (p.Arg21LysfsTer27) n.328_341del | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683352T>A | CA456053019 | BUD23,DNAJC30 | c.72A>T (p.Pro24=) n.328T>A | |
7 | g.73683352T>C | CA456053018 | BUD23,DNAJC30 | c.72A>G (p.Pro24=) n.328T>C | |
7 | g.73683352T>G | CA456053020 | BUD23,DNAJC30 | c.72A>C (p.Pro24=) n.328T>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683352T= | CA1717166441 | BUD23,DNAJC30 | c.72A= (p.Pro24=) n.328T= | |
7 | g.73683353G>A | CA4290014 | BUD23,DNAJC30 | c.71C>T (p.Pro24Leu) n.329G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683353G>C | CA367828268 | BUD23,DNAJC30 | c.71C>G (p.Pro24Arg) n.329G>C | |
7 | g.73683353G= | CA1717166442 | BUD23,DNAJC30 | c.71C= (p.Pro24=) n.329G= | |
7 | g.73683353G>T | CA367828271 | BUD23,DNAJC30 | c.71C>A (p.Pro24Gln) n.329G>T | gnomAD v4 |
7 | g.73683354G>A | CA367828274 | BUD23,DNAJC30 | c.70C>T (p.Pro24Ser) n.330G>A | |
7 | g.73683354G>C | CA367828277 | BUD23,DNAJC30 | c.70C>G (p.Pro24Ala) n.330G>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683354G= | CA1717166443 | BUD23,DNAJC30 | c.70C= (p.Pro24=) n.330G= | |
7 | g.73683354G>T | CA367828279 | BUD23,DNAJC30 | c.70C>A (p.Pro24Thr) n.330G>T | |
7 | g.73683355A= | CA1717166444 | BUD23,DNAJC30 | c.69T= (p.Phe23=) n.331A= | |
7 | g.73683355A>C | CA367828282 | BUD23,DNAJC30 | c.69T>G (p.Phe23Leu) n.331A>C | |
7 | g.73683355A>G | CA456053025 | BUD23,DNAJC30 | c.69T>C (p.Phe23=) n.331A>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683355A>T | CA367828285 | BUD23,DNAJC30 | c.69T>A (p.Phe23Leu) n.331A>T | |
7 | g.73683356A>C | CA367828289 | BUD23,DNAJC30 | c.68T>G (p.Phe23Cys) n.332A>C | |
7 | g.73683356A>G | CA367828291 | BUD23,DNAJC30 | c.68T>C (p.Phe23Ser) n.332A>G | |
7 | g.73683356A>T | CA367828294 | BUD23,DNAJC30 | c.68T>A (p.Phe23Tyr) n.332A>T | |
7 | g.73683357A= | CA1717166445 | BUD23,DNAJC30 | c.67T= (p.Phe23=) n.333A= | |
7 | g.73683357A>C | CA367828301 | BUD23,DNAJC30 | c.67T>G (p.Phe23Val) n.333A>C | |
7 | g.73683357A>G | CA367828303 | BUD23,DNAJC30 | c.67T>C (p.Phe23Leu) n.333A>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683357A>T | CA367828297 | BUD23,DNAJC30 | c.67T>A (p.Phe23Ile) n.333A>T | |
7 | g.73683358G>A | CA456053029 | BUD23,DNAJC30 | c.66C>T (p.Gly22=) n.334G>A | gnomAD v4 |
7 | g.73683358G>C | CA456053032 | BUD23,DNAJC30 | c.66C>G (p.Gly22=) n.334G>C | gnomAD v4 |
7 | g.73683358G>T | CA456053030 | BUD23,DNAJC30 | c.66C>A (p.Gly22=) n.334G>T | |
7 | g.73683359C>A | CA367828305 | BUD23,DNAJC30 | c.65G>T (p.Gly22Val) n.335C>A | |
7 | g.73683359C>G | CA367828307 | BUD23,DNAJC30 | c.65G>C (p.Gly22Ala) n.335C>G | gnomAD v4 |
7 | g.73683359C>T | CA367828310 | BUD23,DNAJC30 | c.65G>A (p.Gly22Asp) n.335C>T | |
7 | g.73683360C>A | CA367828311 | BUD23,DNAJC30 | c.64G>T (p.Gly22Cys) n.336C>A | |
7 | g.73683360C>G | CA367828314 | BUD23,DNAJC30 | c.64G>C (p.Gly22Arg) n.336C>G | |
7 | g.73683360C>T | CA367828317 | BUD23,DNAJC30 | c.64G>A (p.Gly22Ser) n.336C>T | gnomAD v4 |
7 | g.73683361A>C | CA456053037 | BUD23,DNAJC30 | c.63T>G (p.Arg21=) n.337A>C | |
7 | g.73683361A>G | CA456053035 | BUD23,DNAJC30 | c.63T>C (p.Arg21=) n.337A>G | |
7 | g.73683361A>T | CA456053036 | BUD23,DNAJC30 | c.63T>A (p.Arg21=) n.337A>T | |
7 | g.73683362C>A | CA367828320 | BUD23,DNAJC30 | c.62G>T (p.Arg21Leu) n.338C>A | gnomAD v4 |
7 | g.73683362C>G | CA367828322 | BUD23,DNAJC30 | c.62G>C (p.Arg21Pro) n.338C>G | |
7 | g.73683362C>T | CA367828324 | BUD23,DNAJC30 | c.62G>A (p.Arg21His) n.338C>T | gnomAD v4 |
7 | g.73683363G>A | CA4290015 | BUD23,DNAJC30 | c.61C>T (p.Arg21Cys) n.339G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683363G>C | CA367828329 | BUD23,DNAJC30 | c.61C>G (p.Arg21Gly) n.339G>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683363G= | CA1717166446 | BUD23,DNAJC30 | c.61C= (p.Arg21=) n.339G= | |
7 | g.73683363G>T | CA367828332 | BUD23,DNAJC30 | c.61C>A (p.Arg21Ser) n.339G>T | gnomAD v4 |
7 | g.73683365del | CA2683240504 | BUD23,DNAJC30 | c.61del (p.Arg21ValfsTer13) n.341del | gnomAD v4 |
7 | g.73683364G>A | CA456053041 | BUD23,DNAJC30 | c.60C>T (p.Ala20=) n.340G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683364G>C | CA456053039 | BUD23,DNAJC30 | c.60C>G (p.Ala20=) n.340G>C | gnomAD v4 |
7 | g.73683364G= | CA1717166447 | BUD23,DNAJC30 | c.60C= (p.Ala20=) n.340G= | |
7 | g.73683364G>T | CA456053042 | BUD23,DNAJC30 | c.60C>A (p.Ala20=) n.340G>T | |
7 | g.73683365G>A | CA4290016 | BUD23,DNAJC30 | c.59C>T (p.Ala20Val) n.341G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683365G>C | CA367828337 | BUD23,DNAJC30 | c.59C>G (p.Ala20Gly) n.341G>C | |
7 | g.73683365G= | CA1717166448 | BUD23,DNAJC30 | c.59C= (p.Ala20=) n.341G= | |
7 | g.73683365G>T | CA367828334 | BUD23,DNAJC30 | c.59C>A (p.Ala20Asp) n.341G>T | gnomAD v4 |
7 | g.73683366C>A | CA367828340 | BUD23,DNAJC30 | c.58G>T (p.Ala20Ser) n.342C>A | |
7 | g.73683366C>G | CA367828342 | BUD23,DNAJC30 | c.58G>C (p.Ala20Pro) n.342C>G | |
7 | g.73683366C>T | CA367828344 | BUD23,DNAJC30 | c.58G>A (p.Ala20Thr) n.342C>T | dbSNP |
7 | g.73683367C>A | CA367828354 | BUD23,DNAJC30 | c.57G>T (p.Gln19His) n.343C>A | |
7 | g.73683367C>G | CA367828356 | BUD23,DNAJC30 | c.57G>C (p.Gln19His) n.343C>G | |
7 | g.73683367C>T | CA456053043 | BUD23,DNAJC30 | c.57G>A (p.Gln19=) n.343C>T | |
7 | g.73683368T>A | CA367828365 | BUD23,DNAJC30 | c.56A>T (p.Gln19Leu) n.344T>A | |
7 | g.73683368T>C | CA367828359 | BUD23,DNAJC30 | c.56A>G (p.Gln19Arg) n.344T>C | gnomAD v4 |
7 | g.73683368T>G | CA367828362 | BUD23,DNAJC30 | c.56A>C (p.Gln19Pro) n.344T>G | |
7 | g.73683369G>A | CA4290017 | BUD23,DNAJC30 | c.55C>T (p.Gln19Ter) n.345G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683369G>C | CA367828369 | BUD23,DNAJC30 | c.55C>G (p.Gln19Glu) n.345G>C | |
7 | g.73683369G= | CA1717166449 | BUD23,DNAJC30 | c.55C= (p.Gln19=) n.345G= | |
7 | g.73683369G>T | CA367828373 | BUD23,DNAJC30 | c.55C>A (p.Gln19Lys) n.345G>T | |
7 | g.73683370C>A | CA456053047 | BUD23,DNAJC30 | c.54G>T (p.Leu18=) n.346C>A | |
7 | g.73683370C>G | CA456053046 | BUD23,DNAJC30 | c.54G>C (p.Leu18=) n.346C>G | |
7 | g.73683370C>T | CA456053045 | BUD23,DNAJC30 | c.54G>A (p.Leu18=) n.346C>T | gnomAD v4 |
7 | g.73683371A= | CA1717166450 | BUD23,DNAJC30 | c.53T= (p.Leu18=) n.347A= | |
7 | g.73683371A>C | CA367828376 | BUD23,DNAJC30 | c.53T>G (p.Leu18Arg) n.347A>C | |
7 | g.73683371A>G | CA4290018 | BUD23,DNAJC30 | c.53T>C (p.Leu18Pro) n.347A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683371A>T | CA160072733 | BUD23,DNAJC30 | c.53T>A (p.Leu18Gln) n.347A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683372G>A | CA456053051 | BUD23,DNAJC30 | c.52C>T (p.Leu18=) n.348G>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683372G>C | CA367828384 | BUD23,DNAJC30 | c.52C>G (p.Leu18Val) n.348G>C | |
7 | g.73683372G= | CA1717166451 | BUD23,DNAJC30 | c.52C= (p.Leu18=) n.348G= | |
7 | g.73683372G>T | CA367828387 | BUD23,DNAJC30 | c.52C>A (p.Leu18Met) n.348G>T | |
7 | g.73683373C>A | CA367828389 | BUD23,DNAJC30 | c.51G>T (p.Leu17Phe) n.349C>A | |
7 | g.73683373C>G | CA367828397 | BUD23,DNAJC30 | c.51G>C (p.Leu17Phe) n.349C>G | |
7 | g.73683373C>T | CA456053052 | BUD23,DNAJC30 | c.51G>A (p.Leu17=) n.349C>T | |
7 | g.73683374A>C | CA367828400 | BUD23,DNAJC30 | c.50T>G (p.Leu17Trp) n.350A>C | |
7 | g.73683374A>G | CA367828402 | BUD23,DNAJC30 | c.50T>C (p.Leu17Ser) n.350A>G | |
7 | g.73683374A>T | CA367828403 | BUD23,DNAJC30 | c.50T>A (p.Leu17Ter) n.350A>T | gnomAD v4 |
7 | g.73683375A>C | CA367828406 | BUD23,DNAJC30 | c.49T>G (p.Leu17Val) n.351A>C | |
7 | g.73683375A>G | CA456053056 | BUD23,DNAJC30 | c.49T>C (p.Leu17=) n.351A>G | |
7 | g.73683375A>T | CA367828409 | BUD23,DNAJC30 | c.49T>A (p.Leu17Met) n.351A>T | |
7 | g.73683376C>A | CA367828411 | BUD23,DNAJC30 | c.48G>T (p.Arg16Ser) n.352C>A | |
7 | g.73683376C>G | CA367828413 | BUD23,DNAJC30 | c.48G>C (p.Arg16Ser) n.352C>G | |
7 | g.73683376C>T | CA456053057 | BUD23,DNAJC30 | c.48G>A (p.Arg16=) n.352C>T | gnomAD v4 |
7 | g.73683377C>A | CA160072740 | BUD23,DNAJC30 | c.47G>T (p.Arg16Met) n.353C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683377C= | CA1717166452 | BUD23,DNAJC30 | c.47G= (p.Arg16=) n.353C= | |
7 | g.73683377C>G | CA367828417 | BUD23,DNAJC30 | c.47G>C (p.Arg16Thr) n.353C>G | |
7 | g.73683377C>T | CA367828419 | BUD23,DNAJC30 | c.47G>A (p.Arg16Lys) n.353C>T | |
7 | g.73683378T>A | CA367828425 | BUD23,DNAJC30 | c.46A>T (p.Arg16Trp) n.354T>A | |
7 | g.73683378T>C | CA367828428 | BUD23,DNAJC30 | c.46A>G (p.Arg16Gly) n.354T>C | |
7 | g.73683378T>G | CA456053061 | BUD23,DNAJC30 | c.46A>C (p.Arg16=) n.354T>G | dbSNP gnomAD v4 |
7 | g.73683378T= | CA1717166453 | BUD23,DNAJC30 | c.46A= (p.Arg16=) n.354T= | |
7 | g.73683378_73683389del | CA575783464 | BUD23,DNAJC30 | c.35_46del (p.Leu12_Trp15del) n.354_359+6del | gnomAD v2 |
7 | g.73683379C>A | CA367828436 | BUD23,DNAJC30 | c.45G>T (p.Trp15Cys) n.355C>A | |
7 | g.73683379C= | CA1717166454 | BUD23,DNAJC30 | c.45G= (p.Trp15=) n.355C= | |
7 | g.73683379C>G | CA4290019 | BUD23,DNAJC30 | c.45G>C (p.Trp15Cys) n.355C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683379C>T | CA367828432 | BUD23,DNAJC30 | c.45G>A (p.Trp15Ter) n.355C>T | |
7 | g.73683380C>A | CA367828440 | BUD23,DNAJC30 | c.44G>T (p.Trp15Leu) n.356C>A | |
7 | g.73683380C= | CA1717166455 | BUD23,DNAJC30 | c.44G= (p.Trp15=) n.356C= | |
7 | g.73683380C>G | CA367828442 | BUD23,DNAJC30 | c.44G>C (p.Trp15Ser) n.356C>G | |
7 | g.73683380C>T | CA160072752 | BUD23,DNAJC30 | c.44G>A (p.Trp15Ter) n.356C>T | dbSNP gnomAD v4 |
7 | g.73683381A= | CA1717166456 | BUD23,DNAJC30 | c.43T= (p.Trp15=) n.357A= | |
7 | g.73683381A>C | CA367828445 | BUD23,DNAJC30 | c.43T>G (p.Trp15Gly) n.357A>C | dbSNP |
7 | g.73683381A>G | CA367828449 | BUD23,DNAJC30 | c.43T>C (p.Trp15Arg) n.357A>G | dbSNP |
7 | g.73683381A>T | CA367828451 | BUD23,DNAJC30 | c.43T>A (p.Trp15Arg) n.357A>T | |
7 | g.73683382A>C | CA456053066 | BUD23,DNAJC30 | c.42T>G (p.Pro14=) n.358A>C | |
7 | g.73683382A>G | CA456053065 | BUD23,DNAJC30 | c.42T>C (p.Pro14=) n.358A>G | |
7 | g.73683382A>T | CA456053064 | BUD23,DNAJC30 | c.42T>A (p.Pro14=) n.358A>T | gnomAD v4 |
7 | g.73683383G>A | CA4290020 | BUD23,DNAJC30 | c.41C>T (p.Pro14Leu) n.359G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683383G>C | CA367828456 | BUD23,DNAJC30 | c.41C>G (p.Pro14Arg) n.359G>C | dbSNP gnomAD v4 |
7 | g.73683383G= | CA1717166457 | BUD23,DNAJC30 | c.41C= (p.Pro14=) n.359G= | |
7 | g.73683383G>T | CA367828458 | BUD23,DNAJC30 | c.41C>A (p.Pro14His) n.359G>T | dbSNP gnomAD v4 |
7 | g.73683384G>A | CA367828462 | BUD23,DNAJC30 | c.40C>T (p.Pro14Ser) n.359+1G>A | dbSNP gnomAD v4 |
7 | g.73683384G>C | CA367828465 | BUD23,DNAJC30 | c.40C>G (p.Pro14Ala) n.359+1G>C | gnomAD v4 |
7 | g.73683384G= | CA1717166458 | BUD23,DNAJC30 | c.40C= (p.Pro14=) n.359+1G= | |
7 | g.73683384G>T | CA367828468 | BUD23,DNAJC30 | c.40C>A (p.Pro14Thr) n.359+1G>T | |
7 | g.73683385T>A | CA367828470 | BUD23,DNAJC30 | c.39A>T (p.Leu13Phe) n.359+2T>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683385T>C | CA456053070 | BUD23,DNAJC30 | c.39A>G (p.Leu13=) n.359+2T>C | gnomAD v4 |
7 | g.73683385T>G | CA367828473 | BUD23,DNAJC30 | c.39A>C (p.Leu13Phe) n.359+2T>G | |
7 | g.73683385T= | CA1717166459 | BUD23,DNAJC30 | c.39A= (p.Leu13=) n.359+2T= | |
7 | g.73683386A= | CA1717166460 | BUD23,DNAJC30 | c.38T= (p.Leu13=) n.359+3A= | |
7 | g.73683386A>C | CA367828479 | BUD23,DNAJC30 | c.38T>G (p.Leu13Ter) n.359+3A>C | |
7 | g.73683386A>G | CA4290021 | BUD23,DNAJC30 | c.38T>C (p.Leu13Ser) n.359+3A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683386A>T | CA367828476 | BUD23,DNAJC30 | c.38T>A (p.Leu13Ter) n.359+3A>T | |
7 | g.73683387A= | CA1717166461 | BUD23,DNAJC30 | c.37T= (p.Leu13=) n.359+4A= | |
7 | g.73683387A>C | CA367828484 | BUD23,DNAJC30 | c.37T>G (p.Leu13Val) n.359+4A>C | gnomAD v4 |
7 | g.73683387A>G | CA456053072 | BUD23,DNAJC30 | c.37T>C (p.Leu13=) n.359+4A>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683387A>T | CA367828487 | BUD23,DNAJC30 | c.37T>A (p.Leu13Ile) n.359+4A>T | |
7 | g.73683388C>A | CA456053075 | BUD23,DNAJC30 | c.36G>T (p.Leu12=) n.359+5C>A | |
7 | g.73683388C= | CA1717166462 | BUD23,DNAJC30 | c.36G= (p.Leu12=) n.359+5C= | |
7 | g.73683388C>G | CA456053074 | BUD23,DNAJC30 | c.36G>C (p.Leu12=) n.359+5C>G | gnomAD v4 |
7 | g.73683388C>T | CA456053073 | BUD23,DNAJC30 | c.36G>A (p.Leu12=) n.359+5C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683388_73683389insCC | CA160072771 | BUD23,DNAJC30 | c.36_37insGG (p.Leu13GlyfsTer22) n.359+5_359+6insCC | dbSNP |
7 | g.73683389A= | CA1717166464 | BUD23,DNAJC30 | c.35T= (p.Leu12=) n.359+6A= | |
7 | g.73683389A>C | CA367828492 | BUD23,DNAJC30 | c.35T>G (p.Leu12Arg) n.359+6A>C | dbSNP gnomAD v4 |
7 | g.73683389A>G | CA4290022 | BUD23,DNAJC30 | c.35T>C (p.Leu12Pro) n.359+6A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683389A>T | CA367828496 | BUD23,DNAJC30 | c.35T>A (p.Leu12Gln) n.359+6A>T | |
7 | g.73683389_73683390delinsAG | CA1717166463 | BUD23,DNAJC30 | c.34_35delinsCT (p.Leu12=) n.359+6_359+7delinsAG | |
7 | g.73683390del | CA160072776 | BUD23,DNAJC30 | c.34del (p.Leu12CysfsTer22) n.359+7del | dbSNP |
7 | g.73683390G>A | CA456053079 | BUD23,DNAJC30 | c.34C>T (p.Leu12=) n.359+7G>A | gnomAD v4 |
7 | g.73683390G>C | CA4290023 | BUD23,DNAJC30 | c.34C>G (p.Leu12Val) n.359+7G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683390G= | CA1717166465 | BUD23,DNAJC30 | c.34C= (p.Leu12=) n.359+7G= | |
7 | g.73683390G>T | CA367828503 | BUD23,DNAJC30 | c.34C>A (p.Leu12Met) n.359+7G>T | |
7 | g.73683391C>A | CA456053080 | BUD23,DNAJC30 | c.33G>T (p.Arg11=) n.359+8C>A | dbSNP gnomAD v4 |
7 | g.73683391C= | CA1717166466 | BUD23,DNAJC30 | c.33G= (p.Arg11=) n.359+8C= | |
7 | g.73683391C>G | CA456053082 | BUD23,DNAJC30 | c.33G>C (p.Arg11=) n.359+8C>G | gnomAD v4 |
7 | g.73683391C>T | CA456053081 | BUD23,DNAJC30 | c.33G>A (p.Arg11=) n.359+8C>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683392C>A | CA367828511 | BUD23,DNAJC30 | c.32G>T (p.Arg11Leu) n.359+9C>A | gnomAD v4 |
7 | g.73683392C>G | CA367828514 | BUD23,DNAJC30 | c.32G>C (p.Arg11Pro) n.359+9C>G | |
7 | g.73683392C>T | CA367828515 | BUD23,DNAJC30 | c.32G>A (p.Arg11Gln) n.359+9C>T | gnomAD v4 |
7 | g.73683393G>A | CA4290024 | BUD23,DNAJC30 | c.31C>T (p.Arg11Trp) n.359+10G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683393G>C | CA367828519 | BUD23,DNAJC30 | c.31C>G (p.Arg11Gly) n.359+10G>C | |
7 | g.73683393G= | CA1717166467 | BUD23,DNAJC30 | c.31C= (p.Arg11=) n.359+10G= | |
7 | g.73683393G>T | CA456053085 | BUD23,DNAJC30 | c.31C>A (p.Arg11=) n.359+10G>T | |
7 | g.73683394C>A | CA367828522 | BUD23,DNAJC30 | c.30G>T (p.Gln10His) n.359+11C>A | dbSNP |
7 | g.73683394C= | CA1717166468 | BUD23,DNAJC30 | c.30G= (p.Gln10=) n.359+11C= | |
7 | g.73683394C>G | CA160072781 | BUD23,DNAJC30 | c.30G>C (p.Gln10His) n.359+11C>G | dbSNP gnomAD v4 |
7 | g.73683394C>T | CA456053088 | BUD23,DNAJC30 | c.30G>A (p.Gln10=) n.359+11C>T | dbSNP |
7 | g.73683395T>A | CA4290025 | BUD23,DNAJC30 | c.29A>T (p.Gln10Leu) n.359+12T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683395T>C | CA367828530 | BUD23,DNAJC30 | c.29A>G (p.Gln10Arg) n.359+12T>C | gnomAD v4 |
7 | g.73683395T>G | CA367828531 | BUD23,DNAJC30 | c.29A>C (p.Gln10Pro) n.359+12T>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683395T= | CA1717166469 | BUD23,DNAJC30 | c.29A= (p.Gln10=) n.359+12T= | |
7 | g.73683396G>A | CA367828534 | BUD23,DNAJC30 | c.28C>T (p.Gln10Ter) n.359+13G>A | dbSNP gnomAD v4 |
7 | g.73683396G>C | CA367828536 | BUD23,DNAJC30 | c.28C>G (p.Gln10Glu) n.359+13G>C | |
7 | g.73683396G= | CA1717166470 | BUD23,DNAJC30 | c.28C= (p.Gln10=) n.359+13G= | |
7 | g.73683396G>T | CA367828538 | BUD23,DNAJC30 | c.28C>A (p.Gln10Lys) n.359+13G>T | gnomAD v4 |
7 | g.73683397C>A | CA367828550 | BUD23,DNAJC30 | c.27G>T (p.Trp9Cys) n.359+14C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683397C= | CA1717166471 | BUD23,DNAJC30 | c.27G= (p.Trp9=) n.359+14C= | |
7 | g.73683397C>G | CA367828552 | BUD23,DNAJC30 | c.27G>C (p.Trp9Cys) n.359+14C>G | |
7 | g.73683397C>T | CA367828555 | BUD23,DNAJC30 | c.27G>A (p.Trp9Ter) n.359+14C>T | dbSNP gnomAD v4 |
7 | g.73683398C>A | CA160072791 | BUD23,DNAJC30 | c.26G>T (p.Trp9Leu) n.359+15C>A | dbSNP |
7 | g.73683398C= | CA1717166472 | BUD23,DNAJC30 | c.26G= (p.Trp9=) n.359+15C= | |
7 | g.73683398C>G | CA367828562 | BUD23,DNAJC30 | c.26G>C (p.Trp9Ser) n.359+15C>G | |
7 | g.73683398C>T | CA367828566 | BUD23,DNAJC30 | c.26G>A (p.Trp9Ter) n.359+15C>T | dbSNP gnomAD v2 |
7 | g.73683399A= | CA1717166473 | BUD23,DNAJC30 | c.25T= (p.Trp9=) n.359+16A= | |
7 | g.73683399A>C | CA367828570 | BUD23,DNAJC30 | c.25T>G (p.Trp9Gly) n.359+16A>C | |
7 | g.73683399A>G | CA4290026 | BUD23,DNAJC30 | c.25T>C (p.Trp9Arg) n.359+16A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683399A>T | CA367828573 | BUD23,DNAJC30 | c.25T>A (p.Trp9Arg) n.359+16A>T | |
7 | g.73683400C>A | CA367828578 | BUD23,DNAJC30 | c.24G>T (p.Trp8Cys) n.359+17C>A | dbSNP |
7 | g.73683400C= | CA1717166474 | BUD23,DNAJC30 | c.24G= (p.Trp8=) n.359+17C= | |
7 | g.73683400C>G | CA367828580 | BUD23,DNAJC30 | c.24G>C (p.Trp8Cys) n.359+17C>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683400C>T | CA4290027 | BUD23,DNAJC30 | c.24G>A (p.Trp8Ter) n.359+17C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |