UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.28845318A>C | CA395417960 | TUFM | c.410T>G (p.Val137Gly) c.248-263T>G (n.248-263T>G) | |
| 16 | g.28845318A>G | CA395417961 | TUFM | c.410T>C (p.Val137Ala) c.248-263T>C (n.248-263T>C) | |
| 16 | g.28845318A>T | CA395417962 | TUFM | c.410T>A (p.Val137Asp) c.248-263T>A (n.248-263T>A) | |
| 16 | g.28845319C>A | CA395417969 | TUFM | c.409G>T (p.Val137Phe) c.248-264G>T (n.248-264G>T) | |
| 16 | g.28845319C>G | CA395417963 | TUFM | c.409G>C (p.Val137Leu) c.248-264G>C (n.248-264G>C) | |
| 16 | g.28845319C>T | CA395417965 | TUFM | c.409G>A (p.Val137Ile) c.248-264G>A (n.248-264G>A) | ClinVar |
| 16 | g.28845320A>C | CA395417976 | TUFM | c.408T>G (p.Tyr136Ter) c.248-265T>G (n.248-265T>G) | |
| 16 | g.28845320A>G | CA494484825 | TUFM | c.408T>C (p.Tyr136=) c.248-265T>C (n.248-265T>C) | |
| 16 | g.28845320A>T | CA395417977 | TUFM | c.408T>A (p.Tyr136Ter) c.248-265T>A (n.248-265T>A) | |
| 16 | g.28845321T>A | CA395417980 | TUFM | c.407A>T (p.Tyr136Phe) c.248-266A>T (n.248-266A>T) | |
| 16 | g.28845321T>C | CA395417981 | TUFM | c.407A>G (p.Tyr136Cys) c.248-266A>G (n.248-266A>G) | |
| 16 | g.28845321T>G | CA395417983 | TUFM | c.407A>C (p.Tyr136Ser) c.248-266A>C (n.248-266A>C) | |
| 16 | g.28845322A>C | CA395417986 | TUFM | c.406T>G (p.Tyr136Asp) c.248-267T>G (n.248-267T>G) | |
| 16 | g.28845322A>G | CA395417991 | TUFM | c.406T>C (p.Tyr136His) c.248-267T>C (n.248-267T>C) | |
| 16 | g.28845322A>T | CA395417989 | TUFM | c.406T>A (p.Tyr136Asn) c.248-267T>A (n.248-267T>A) | |
| 16 | g.28845323A= | CA2215863797 | TUFM | c.405T= (p.Asp135=) c.248-268T= (n.248-268T=) | |
| 16 | g.28845323A>C | CA395417993 | TUFM | c.405T>G (p.Asp135Glu) c.248-268T>G (n.248-268T>G) | |
| 16 | g.28845323A>G | CA494484826 | TUFM | c.405T>C (p.Asp135=) c.248-268T>C (n.248-268T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.28845323A>T | CA395417994 | TUFM | c.405T>A (p.Asp135Glu) c.248-268T>A (n.248-268T>A) | |
| 16 | g.28845324T>A | CA395417995 | TUFM | c.404A>T (p.Asp135Val) c.248-269A>T (n.248-269A>T) | |
| 16 | g.28845324T>C | CA395417996 | TUFM | c.404A>G (p.Asp135Gly) c.248-269A>G (n.248-269A>G) | |
| 16 | g.28845324T>G | CA395417997 | TUFM | c.404A>C (p.Asp135Ala) c.248-269A>C (n.248-269A>C) | |
| 16 | g.28845325C>A | CA395417998 | TUFM | c.403G>T (p.Asp135Tyr) c.248-270G>T (n.248-270G>T) | gnomAD v4 |
| 16 | g.28845325C>G | CA395417999 | TUFM | c.403G>C (p.Asp135His) c.248-270G>C (n.248-270G>C) | |
| 16 | g.28845325C>T | CA395418001 | TUFM | c.403G>A (p.Asp135Asn) c.248-270G>A (n.248-270G>A) | |
| 16 | g.28845326T>A | CA494484827 | TUFM | c.402A>T (p.Ala134=) c.248-271A>T (n.248-271A>T) | |
| 16 | g.28845326T>C | CA494484828 | TUFM | c.402A>G (p.Ala134=) c.248-271A>G (n.248-271A>G) | gnomAD v4 |
| 16 | g.28845326T>G | CA494484829 | TUFM | c.402A>C (p.Ala134=) c.248-271A>C (n.248-271A>C) | |
| 16 | g.28845327G>A | CA395418003 | TUFM | c.401C>T (p.Ala134Val) c.248-272C>T (n.248-272C>T) | |
| 16 | g.28845327G>C | CA395418011 | TUFM | c.401C>G (p.Ala134Gly) c.248-272C>G (n.248-272C>G) | |
| 16 | g.28845327G>T | CA395418013 | TUFM | c.401C>A (p.Ala134Glu) c.248-272C>A (n.248-272C>A) | |
| 16 | g.28845328C>A | CA395418015 | TUFM | c.400G>T (p.Ala134Ser) c.248-273G>T (n.248-273G>T) | |
| 16 | g.28845328C>G | CA395418017 | TUFM | c.400G>C (p.Ala134Pro) c.248-273G>C (n.248-273G>C) | |
| 16 | g.28845328C>T | CA395418016 | TUFM | c.400G>A (p.Ala134Thr) c.248-273G>A (n.248-273G>A) | |
| 16 | g.28845329A>C | CA395418018 | TUFM | c.399T>G (p.His133Gln) c.248-274T>G (n.248-274T>G) | |
| 16 | g.28845329A>G | CA494484830 | TUFM | c.399T>C (p.His133=) c.248-274T>C (n.248-274T>C) | ClinVar dbSNP |
| 16 | g.28845329A>T | CA395418019 | TUFM | c.399T>A (p.His133Gln) c.248-274T>A (n.248-274T>A) | gnomAD v4 |
| 16 | g.28845330T>A | CA395418020 | TUFM | c.398A>T (p.His133Leu) c.248-275A>T (n.248-275A>T) | |
| 16 | g.28845330T>C | CA395418022 | TUFM | c.398A>G (p.His133Arg) c.248-275A>G (n.248-275A>G) | dbSNP gnomAD v2 |
| 16 | g.28845330T>G | CA395418028 | TUFM | c.398A>C (p.His133Pro) c.248-275A>C (n.248-275A>C) | |
| 16 | g.28845330T= | CA2215863804 | TUFM | c.398A= (p.His133=) c.248-275A= (n.248-275A=) | |
| 16 | g.28845331G>A | CA395418029 | TUFM | c.397C>T (p.His133Tyr) c.248-276C>T (n.248-276C>T) | |
| 16 | g.28845331G>C | CA395418030 | TUFM | c.397C>G (p.His133Asp) c.248-276C>G (n.248-276C>G) | |
| 16 | g.28845331G>T | CA395418031 | TUFM | c.397C>A (p.His133Asn) c.248-276C>A (n.248-276C>A) | |
| 16 | g.28845332A>C | CA494484831 | TUFM | c.396T>G (p.Gly132=) c.248-277T>G (n.248-277T>G) | |
| 16 | g.28845332A>G | CA494484832 | TUFM | c.396T>C (p.Gly132=) c.248-277T>C (n.248-277T>C) | |
| 16 | g.28845332A>T | CA494484833 | TUFM | c.396T>A (p.Gly132=) c.248-277T>A (n.248-277T>A) | |
| 16 | g.28845333C>A | CA395418032 | TUFM | c.395G>T (p.Gly132Val) c.248-278G>T (n.248-278G>T) | |
| 16 | g.28845333C>G | CA395418034 | TUFM | c.395G>C (p.Gly132Ala) c.248-278G>C (n.248-278G>C) | |
| 16 | g.28845333C>T | CA395418035 | TUFM | c.395G>A (p.Gly132Asp) c.248-278G>A (n.248-278G>A) | |
| 16 | g.28845334C>A | CA395418037 | TUFM | c.394G>T (p.Gly132Cys) c.248-279G>T (n.248-279G>T) | |
| 16 | g.28845334C>G | CA395418039 | TUFM | c.394G>C (p.Gly132Arg) c.248-279G>C (n.248-279G>C) | |
| 16 | g.28845334C>T | CA395418041 | TUFM | c.394G>A (p.Gly132Ser) c.248-279G>A (n.248-279G>A) | |
| 16 | g.28845335C>A | CA494484834 | TUFM | c.393G>T (p.Pro131=) c.248-280G>T (n.248-280G>T) | |
| 16 | g.28845335C= | CA2215863811 | TUFM | c.393G= (p.Pro131=) c.248-280G= (n.248-280G=) | |
| 16 | g.28845335C>G | CA494484835 | TUFM | c.393G>C (p.Pro131=) c.248-280G>C (n.248-280G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845335C>T | CA7985666 | TUFM | c.393G>A (p.Pro131=) c.248-280G>A (n.248-280G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845336G>A | CA279238665 | TUFM | c.392C>T (p.Pro131Leu) c.248-281C>T (n.248-281C>T) | dbSNP gnomAD v4 |
| 16 | g.28845336G>C | CA395418059 | TUFM | c.392C>G (p.Pro131Arg) c.248-281C>G (n.248-281C>G) | |
| 16 | g.28845336G= | CA2215863819 | TUFM | c.392C= (p.Pro131=) c.248-281C= (n.248-281C=) | |
| 16 | g.28845336G>T | CA395418056 | TUFM | c.392C>A (p.Pro131Gln) c.248-281C>A (n.248-281C>A) | gnomAD v3 gnomAD v4 |
| 16 | g.28845337G>A | CA395418060 | TUFM | c.391C>T (p.Pro131Ser) c.248-282C>T (n.248-282C>T) | |
| 16 | g.28845337G>C | CA395418062 | TUFM | c.391C>G (p.Pro131Ala) c.248-282C>G (n.248-282C>G) | |
| 16 | g.28845337G>T | CA395418065 | TUFM | c.391C>A (p.Pro131Thr) c.248-282C>A (n.248-282C>A) | |
| 16 | g.28845338G>A | CA494484836 | TUFM | c.390C>T (p.Cys130=) c.248-283C>T (n.248-283C>T) | |
| 16 | g.28845338G>C | CA395418067 | TUFM | c.390C>G (p.Cys130Trp) c.248-283C>G (n.248-283C>G) | |
| 16 | g.28845338G>T | CA395418068 | TUFM | c.390C>A (p.Cys130Ter) c.248-283C>A (n.248-283C>A) | gnomAD v4 |
| 16 | g.28845339C>A | CA395418069 | TUFM | c.389G>T (p.Cys130Phe) c.248-284G>T (n.248-284G>T) | gnomAD v4 |
| 16 | g.28845339C>G | CA395418071 | TUFM | c.389G>C (p.Cys130Ser) c.248-284G>C (n.248-284G>C) | |
| 16 | g.28845339C>T | CA395418076 | TUFM | c.389G>A (p.Cys130Tyr) c.248-284G>A (n.248-284G>A) | |
| 16 | g.28845340A>C | CA395418084 | TUFM | c.388T>G (p.Cys130Gly) c.248-285T>G (n.248-285T>G) | |
| 16 | g.28845340A>G | CA395418087 | TUFM | c.388T>C (p.Cys130Arg) c.248-285T>C (n.248-285T>C) | |
| 16 | g.28845340A>T | CA395418092 | TUFM | c.388T>A (p.Cys130Ser) c.248-285T>A (n.248-285T>A) | |
| 16 | g.28845341G>A | CA494484837 | TUFM | c.387C>T (p.Asp129=) c.248-286C>T (n.248-286C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845341G>C | CA395418096 | TUFM | c.387C>G (p.Asp129Glu) c.248-286C>G (n.248-286C>G) | |
| 16 | g.28845341G= | CA2215863821 | TUFM | c.387C= (p.Asp129=) c.248-286C= (n.248-286C=) | |
| 16 | g.28845341G>T | CA395418095 | TUFM | c.387C>A (p.Asp129Glu) c.248-286C>A (n.248-286C>A) | gnomAD v4 |
| 16 | g.28845342T>A | CA395418098 | TUFM | c.386A>T (p.Asp129Val) c.248-287A>T (n.248-287A>T) | |
| 16 | g.28845342T>C | CA395418105 | TUFM | c.386A>G (p.Asp129Gly) c.248-287A>G (n.248-287A>G) | |
| 16 | g.28845342T>G | CA395418107 | TUFM | c.386A>C (p.Asp129Ala) c.248-287A>C (n.248-287A>C) | |
| 16 | g.28845343C>A | CA395418111 | TUFM | c.385G>T (p.Asp129Tyr) c.248-288G>T (n.248-288G>T) | |
| 16 | g.28845343C= | CA2215863827 | TUFM | c.385G= (p.Asp129=) c.248-288G= (n.248-288G=) | |
| 16 | g.28845343C>G | CA395418112 | TUFM | c.385G>C (p.Asp129His) c.248-288G>C (n.248-288G>C) | |
| 16 | g.28845343C>T | CA395418114 | TUFM | c.385G>A (p.Asp129Asn) c.248-288G>A (n.248-288G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.28845344T>A | CA494484838 | TUFM | c.384A>T (p.Thr128=) c.248-289A>T (n.248-289A>T) | dbSNP |
| 16 | g.28845344T>C | CA494484839 | TUFM | c.384A>G (p.Thr128=) c.248-289A>G (n.248-289A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.28845344T>G | CA494484840 | TUFM | c.384A>C (p.Thr128=) c.248-289A>C (n.248-289A>C) | gnomAD v4 |
| 16 | g.28845344T= | CA2215863833 | TUFM | c.384A= (p.Thr128=) c.248-289A= (n.248-289A=) | |
| 16 | g.28845345G>A | CA395418119 | TUFM | c.383C>T (p.Thr128Ile) c.248-290C>T (n.248-290C>T) | dbSNP |
| 16 | g.28845345G>C | CA395418115 | TUFM | c.383C>G (p.Thr128Arg) c.248-290C>G (n.248-290C>G) | |
| 16 | g.28845345G= | CA2215863839 | TUFM | c.383C= (p.Thr128=) c.248-290C= (n.248-290C=) | |
| 16 | g.28845345G>T | CA395418116 | TUFM | c.383C>A (p.Thr128Lys) c.248-290C>A (n.248-290C>A) | COSMIC |
| 16 | g.28845346T>A | CA395418126 | TUFM | c.382A>T (p.Thr128Ser) c.248-291A>T (n.248-291A>T) | |
| 16 | g.28845346T>C | CA395418128 | TUFM | c.382A>G (p.Thr128Ala) c.248-291A>G (n.248-291A>G) | dbSNP |
| 16 | g.28845346T>G | CA395418131 | TUFM | c.382A>C (p.Thr128Pro) c.248-291A>C (n.248-291A>C) | |
| 16 | g.28845346T= | CA2215863859 | TUFM | c.382A= (p.Thr128=) c.248-291A= (n.248-291A=) | |
| 16 | g.28845347G>A | CA494484841 | TUFM | c.381C>T (p.His127=) c.248-292C>T (n.248-292C>T) | |
| 16 | g.28845347G>C | CA395418147 | TUFM | c.381C>G (p.His127Gln) c.248-292C>G (n.248-292C>G) | |
| 16 | g.28845347G>T | CA395418148 | TUFM | c.381C>A (p.His127Gln) c.248-292C>A (n.248-292C>A) | |
| 16 | g.28845348T>A | CA395418161 | TUFM | c.380A>T (p.His127Leu) c.248-293A>T (n.248-293A>T) | |
| 16 | g.28845348T>C | CA395418166 | TUFM | c.380A>G (p.His127Arg) c.248-293A>G (n.248-293A>G) | |
| 16 | g.28845348T>G | CA395418162 | TUFM | c.380A>C (p.His127Pro) c.248-293A>C (n.248-293A>C) | |
| 16 | g.28845349G>A | CA395418167 | TUFM | c.379C>T (p.His127Tyr) c.248-294C>T (n.248-294C>T) | |
| 16 | g.28845349G>C | CA395418168 | TUFM | c.379C>G (p.His127Asp) c.248-294C>G (n.248-294C>G) | |
| 16 | g.28845349G>T | CA395418169 | TUFM | c.379C>A (p.His127Asn) c.248-294C>A (n.248-294C>A) | |
| 16 | g.28845350G>A | CA494484842 | TUFM | c.378C>T (p.Ala126=) c.248-295C>T (n.248-295C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.28845350G>C | CA494484843 | TUFM | c.378C>G (p.Ala126=) c.248-295C>G (n.248-295C>G) | |
| 16 | g.28845350G= | CA2215863862 | TUFM | c.378C= (p.Ala126=) c.248-295C= (n.248-295C=) | |
| 16 | g.28845350G>T | CA494484844 | TUFM | c.378C>A (p.Ala126=) c.248-295C>A (n.248-295C>A) | |
| 16 | g.28845351G>A | CA395418170 | TUFM | c.377C>T (p.Ala126Val) c.248-296C>T (n.248-296C>T) | dbSNP |
| 16 | g.28845351G>C | CA395418171 | TUFM | c.377C>G (p.Ala126Gly) c.248-296C>G (n.248-296C>G) | gnomAD v4 |
| 16 | g.28845351G= | CA2215863867 | TUFM | c.377C= (p.Ala126=) c.248-296C= (n.248-296C=) | |
| 16 | g.28845351G>T | CA395418173 | TUFM | c.377C>A (p.Ala126Asp) c.248-296C>A (n.248-296C>A) | |
| 16 | g.28845352C>A | CA395418175 | TUFM | c.376G>T (p.Ala126Ser) c.248-297G>T (n.248-297G>T) | |
| 16 | g.28845352C= | CA2215863872 | TUFM | c.376G= (p.Ala126=) c.248-297G= (n.248-297G=) | |
| 16 | g.28845352C>G | CA279238667 | TUFM | c.376G>C (p.Ala126Pro) c.248-297G>C (n.248-297G>C) | dbSNP gnomAD v4 |
| 16 | g.28845352C>T | CA395418178 | TUFM | c.376G>A (p.Ala126Thr) c.248-297G>A (n.248-297G>A) | ClinVar dbSNP gnomAD v4 |
| 16 | g.28845353G>A | CA494484845 | TUFM | c.375C>T (p.Tyr125=) c.248-298C>T (n.248-298C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845353G>C | CA395418181 | TUFM | c.375C>G (p.Tyr125Ter) c.248-298C>G (n.248-298C>G) | |
| 16 | g.28845353G= | CA2215863879 | TUFM | c.375C= (p.Tyr125=) c.248-298C= (n.248-298C=) | |
| 16 | g.28845353G>T | CA395418192 | TUFM | c.375C>A (p.Tyr125Ter) c.248-298C>A (n.248-298C>A) | |
| 16 | g.28845354T>A | CA395418197 | TUFM | c.374A>T (p.Tyr125Phe) c.248-299A>T (n.248-299A>T) | |
| 16 | g.28845354T>C | CA279238671 | TUFM | c.374A>G (p.Tyr125Cys) c.248-299A>G (n.248-299A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.28845354T>G | CA395418200 | TUFM | c.374A>C (p.Tyr125Ser) c.248-299A>C (n.248-299A>C) | dbSNP |
| 16 | g.28845354T= | CA2215863883 | TUFM | c.374A= (p.Tyr125=) c.248-299A= (n.248-299A=) | |
| 16 | g.28845355A>C | CA395418201 | TUFM | c.373T>G (p.Tyr125Asp) c.248-300T>G (n.248-300T>G) | |
| 16 | g.28845355A>G | CA395418203 | TUFM | c.373T>C (p.Tyr125His) c.248-300T>C (n.248-300T>C) | COSMIC |
| 16 | g.28845355A>T | CA395418202 | TUFM | c.373T>A (p.Tyr125Asn) c.248-300T>A (n.248-300T>A) | |
| 16 | g.28845356G>A | CA494484846 | TUFM | c.372C>T (p.His124=) c.248-301C>T (n.248-301C>T) | |
| 16 | g.28845356G>C | CA395418204 | TUFM | c.372C>G (p.His124Gln) c.248-301C>G (n.248-301C>G) | gnomAD v4 |
| 16 | g.28845356G>T | CA395418205 | TUFM | c.372C>A (p.His124Gln) c.248-301C>A (n.248-301C>A) | |
| 16 | g.28845357T>A | CA395418206 | TUFM | c.371A>T (p.His124Leu) c.248-302A>T (n.248-302A>T) | |
| 16 | g.28845357T>C | CA395418208 | TUFM | c.371A>G (p.His124Arg) c.248-302A>G (n.248-302A>G) | |
| 16 | g.28845357T>G | CA395418207 | TUFM | c.371A>C (p.His124Pro) c.248-302A>C (n.248-302A>C) | |
| 16 | g.28845357_28845383delinsTGGCGGGCGGCAGTGCTATACTCCACA | CA2215863891 | TUFM | c.345_371delinsTGTGGAGTATAGCACTGCCGCCCGCCA (p.His115=) c.248-328_248-302delinsTGTGGAGTATAGCACTGCCGCCCGCCA (n.248-328_248-302delinsTGTGGAGTATAGCACTGCCGCCCGCCA) | |
| 16 | g.28845358G>A | CA395418210 | TUFM | c.370C>T (p.His124Tyr) c.248-303C>T (n.248-303C>T) | |
| 16 | g.28845358G>C | CA395418211 | TUFM | c.370C>G (p.His124Asp) c.248-303C>G (n.248-303C>G) | |
| 16 | g.28845358G>T | CA395418212 | TUFM | c.370C>A (p.His124Asn) c.248-303C>A (n.248-303C>A) | |
| 16 | g.28845358_28845383del | CA2215863896 | TUFM | c.345_370del (p.His115GlnfsTer15) c.248-328_248-303del (n.248-328_248-303del) | dbSNP |
| 16 | g.28845359G>A | CA494484847 | TUFM | c.369C>T (p.Arg123=) c.248-304C>T (n.248-304C>T) | |
| 16 | g.28845359G>C | CA494484848 | TUFM | c.369C>G (p.Arg123=) c.248-304C>G (n.248-304C>G) | |
| 16 | g.28845359G>T | CA494484849 | TUFM | c.369C>A (p.Arg123=) c.248-304C>A (n.248-304C>A) | |
| 16 | g.28845360C>A | CA395418215 | TUFM | c.368G>T (p.Arg123Leu) c.248-305G>T (n.248-305G>T) | |
| 16 | g.28845360C= | CA2215863904 | TUFM | c.368G= (p.Arg123=) c.248-305G= (n.248-305G=) | |
| 16 | g.28845360C>G | CA395418218 | TUFM | c.368G>C (p.Arg123Pro) c.248-305G>C (n.248-305G>C) | |
| 16 | g.28845360C>T | CA7985667 | TUFM | c.368G>A (p.Arg123His) c.248-305G>A (n.248-305G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.28845361G>A | CA395418227 | TUFM | c.367C>T (p.Arg123Cys) c.248-306C>T (n.248-306C>T) | gnomAD v4 |
| 16 | g.28845361G>C | CA395418228 | TUFM | c.367C>G (p.Arg123Gly) c.248-306C>G (n.248-306C>G) | dbSNP gnomAD v4 |
| 16 | g.28845361G= | CA2215863913 | TUFM | c.367C= (p.Arg123=) c.248-306C= (n.248-306C=) | |
| 16 | g.28845361G>T | CA395418232 | TUFM | c.367C>A (p.Arg123Ser) c.248-306C>A (n.248-306C>A) | |
| 16 | g.28845362G>A | CA494484852 | TUFM | c.366C>T (p.Ala122=) c.248-307C>T (n.248-307C>T) | |
| 16 | g.28845362G>C | CA494484851 | TUFM | c.366C>G (p.Ala122=) c.248-307C>G (n.248-307C>G) | |
| 16 | g.28845362G>T | CA494484850 | TUFM | c.366C>A (p.Ala122=) c.248-307C>A (n.248-307C>A) | |
| 16 | g.28845363G>A | CA7985668 | TUFM | c.365C>T (p.Ala122Val) c.248-308C>T (n.248-308C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845363G>C | CA395418237 | TUFM | c.365C>G (p.Ala122Gly) c.248-308C>G (n.248-308C>G) | |
| 16 | g.28845363G= | CA2215863916 | TUFM | c.365C= (p.Ala122=) c.248-308C= (n.248-308C=) | |
| 16 | g.28845363G>T | CA395418239 | TUFM | c.365C>A (p.Ala122Asp) c.248-308C>A (n.248-308C>A) | |
| 16 | g.28845364C>A | CA395418253 | TUFM | c.364G>T (p.Ala122Ser) c.248-309G>T (n.248-309G>T) | gnomAD v4 |
| 16 | g.28845364C= | CA2215863920 | TUFM | c.364G= (p.Ala122=) c.248-309G= (n.248-309G=) | |
| 16 | g.28845364C>G | CA395418243 | TUFM | c.364G>C (p.Ala122Pro) c.248-309G>C (n.248-309G>C) | dbSNP gnomAD v2 |
| 16 | g.28845364C>T | CA395418250 | TUFM | c.364G>A (p.Ala122Thr) c.248-309G>A (n.248-309G>A) | gnomAD v4 |
| 16 | g.28845365G>A | CA7985669 | TUFM | c.363C>T (p.Ala121=) c.248-310C>T (n.248-310C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28845365G>C | CA494484854 | TUFM | c.363C>G (p.Ala121=) c.248-310C>G (n.248-310C>G) | |
| 16 | g.28845365G= | CA2215863928 | TUFM | c.363C= (p.Ala121=) c.248-310C= (n.248-310C=) | |
| 16 | g.28845365G>T | CA494484853 | TUFM | c.363C>A (p.Ala121=) c.248-310C>A (n.248-310C>A) | |
| 16 | g.28845366G>A | CA395418257 | TUFM | c.362C>T (p.Ala121Val) c.248-311C>T (n.248-311C>T) | dbSNP gnomAD v4 |
| 16 | g.28845366G>C | CA395418258 | TUFM | c.362C>G (p.Ala121Gly) c.248-311C>G (n.248-311C>G) | |
| 16 | g.28845366G= | CA2215863937 | TUFM | c.362C= (p.Ala121=) c.248-311C= (n.248-311C=) | |
| 16 | g.28845366G>T | CA395418260 | TUFM | c.362C>A (p.Ala121Asp) c.248-311C>A (n.248-311C>A) | |
| 16 | g.28845367C>A | CA395418263 | TUFM | c.361G>T (p.Ala121Ser) c.248-312G>T (n.248-312G>T) | |
| 16 | g.28845367C>G | CA395418267 | TUFM | c.361G>C (p.Ala121Pro) c.248-312G>C (n.248-312G>C) | |
| 16 | g.28845367C>T | CA395418269 | TUFM | c.361G>A (p.Ala121Thr) c.248-312G>A (n.248-312G>A) | |
| 16 | g.28845368A>C | CA494484855 | TUFM | c.360T>G (p.Thr120=) c.248-313T>G (n.248-313T>G) | |
| 16 | g.28845368A>G | CA494484857 | TUFM | c.360T>C (p.Thr120=) c.248-313T>C (n.248-313T>C) | |
| 16 | g.28845368A>T | CA494484856 | TUFM | c.360T>A (p.Thr120=) c.248-313T>A (n.248-313T>A) | |
| 16 | g.28845369G>A | CA395418271 | TUFM | c.359C>T (p.Thr120Ile) c.248-314C>T (n.248-314C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845369G>C | CA395418272 | TUFM | c.359C>G (p.Thr120Ser) c.248-314C>G (n.248-314C>G) | |
| 16 | g.28845369G= | CA2215863941 | TUFM | c.359C= (p.Thr120=) c.248-314C= (n.248-314C=) | |
| 16 | g.28845369G>T | CA395418274 | TUFM | c.359C>A (p.Thr120Asn) c.248-314C>A (n.248-314C>A) | |
| 16 | g.28845370T>A | CA395418278 | TUFM | c.358A>T (p.Thr120Ser) c.248-315A>T (n.248-315A>T) | |
| 16 | g.28845370T>C | CA395418277 | TUFM | c.358A>G (p.Thr120Ala) c.248-315A>G (n.248-315A>G) | |
| 16 | g.28845370T>G | CA395418276 | TUFM | c.358A>C (p.Thr120Pro) c.248-315A>C (n.248-315A>C) | dbSNP |
| 16 | g.28845371G>A | CA494484858 | TUFM | c.357C>T (p.Ser119=) c.248-316C>T (n.248-316C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845371G>C | CA395418279 | TUFM | c.357C>G (p.Ser119Arg) c.248-316C>G (n.248-316C>G) | gnomAD v4 |
| 16 | g.28845371G= | CA2215863945 | TUFM | c.357C= (p.Ser119=) c.248-316C= (n.248-316C=) | |
| 16 | g.28845371G>T | CA395418280 | TUFM | c.357C>A (p.Ser119Arg) c.248-316C>A (n.248-316C>A) | |
| 16 | g.28845372C>A | CA395418282 | TUFM | c.356G>T (p.Ser119Ile) c.248-317G>T (n.248-317G>T) | gnomAD v4 |
| 16 | g.28845372C>G | CA395418283 | TUFM | c.356G>C (p.Ser119Thr) c.248-317G>C (n.248-317G>C) | |
| 16 | g.28845372C>T | CA395418287 | TUFM | c.356G>A (p.Ser119Asn) c.248-317G>A (n.248-317G>A) | |
| 16 | g.28845373T>A | CA395418288 | TUFM | c.355A>T (p.Ser119Cys) c.248-318A>T (n.248-318A>T) | |
| 16 | g.28845373T>C | CA395418289 | TUFM | c.355A>G (p.Ser119Gly) c.248-318A>G (n.248-318A>G) | |
| 16 | g.28845373T>G | CA395418292 | TUFM | c.355A>C (p.Ser119Arg) c.248-318A>C (n.248-318A>C) | |
| 16 | g.28845374A= | CA2215863955 | TUFM | c.354T= (p.Tyr118=) c.248-319T= (n.248-319T=) | |
| 16 | g.28845374A>C | CA395418294 | TUFM | c.354T>G (p.Tyr118Ter) c.248-319T>G (n.248-319T>G) | |
| 16 | g.28845374A>G | CA494484859 | TUFM | c.354T>C (p.Tyr118=) c.248-319T>C (n.248-319T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845374A>T | CA395418296 | TUFM | c.354T>A (p.Tyr118Ter) c.248-319T>A (n.248-319T>A) | |
| 16 | g.28845375T>A | CA395418297 | TUFM | c.353A>T (p.Tyr118Phe) c.248-320A>T (n.248-320A>T) | |
| 16 | g.28845375T>C | CA395418301 | TUFM | c.353A>G (p.Tyr118Cys) c.248-320A>G (n.248-320A>G) | |
| 16 | g.28845375T>G | CA395418305 | TUFM | c.353A>C (p.Tyr118Ser) c.248-320A>C (n.248-320A>C) | |
| 16 | g.28845376A>C | CA395418309 | TUFM | c.352T>G (p.Tyr118Asp) c.248-321T>G (n.248-321T>G) | |
| 16 | g.28845376A>G | CA395418306 | TUFM | c.352T>C (p.Tyr118His) c.248-321T>C (n.248-321T>C) | |
| 16 | g.28845376A>T | CA395418308 | TUFM | c.352T>A (p.Tyr118Asn) c.248-321T>A (n.248-321T>A) | |
| 16 | g.28845377C>A | CA395418311 | TUFM | c.351G>T (p.Glu117Asp) c.248-322G>T (n.248-322G>T) | |
| 16 | g.28845377C>G | CA395418313 | TUFM | c.351G>C (p.Glu117Asp) c.248-322G>C (n.248-322G>C) | |
| 16 | g.28845377C>T | CA494484860 | TUFM | c.351G>A (p.Glu117=) c.248-322G>A (n.248-322G>A) | gnomAD v4 |
| 16 | g.28845378T>A | CA395418330 | TUFM | c.350A>T (p.Glu117Val) c.248-323A>T (n.248-323A>T) | |
| 16 | g.28845378T>C | CA395418331 | TUFM | c.350A>G (p.Glu117Gly) c.248-323A>G (n.248-323A>G) | |
| 16 | g.28845378T>G | CA395418334 | TUFM | c.350A>C (p.Glu117Ala) c.248-323A>C (n.248-323A>C) | |
| 16 | g.28845379C>A | CA395418348 | TUFM | c.349G>T (p.Glu117Ter) c.248-324G>T (n.248-324G>T) | |
| 16 | g.28845379C= | CA2215863957 | TUFM | c.349G= (p.Glu117=) c.248-324G= (n.248-324G=) | |
| 16 | g.28845379C>G | CA395418350 | TUFM | c.349G>C (p.Glu117Gln) c.248-324G>C (n.248-324G>C) | |
| 16 | g.28845379C>T | CA395418351 | TUFM | c.349G>A (p.Glu117Lys) c.248-324G>A (n.248-324G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.28845380C>A | CA494484861 | TUFM | c.348G>T (p.Val116=) c.248-325G>T (n.248-325G>T) | |
| 16 | g.28845380C>G | CA494484862 | TUFM | c.348G>C (p.Val116=) c.248-325G>C (n.248-325G>C) | |
| 16 | g.28845380C>T | CA494484863 | TUFM | c.348G>A (p.Val116=) c.248-325G>A (n.248-325G>A) | |
| 16 | g.28845381A= | CA2215863959 | TUFM | c.347T= (p.Val116=) c.248-326T= (n.248-326T=) | |
| 16 | g.28845381A>C | CA395418352 | TUFM | c.347T>G (p.Val116Gly) c.248-326T>G (n.248-326T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.28845381A>G | CA395418353 | TUFM | c.347T>C (p.Val116Ala) c.248-326T>C (n.248-326T>C) | |
| 16 | g.28845381A>T | CA395418354 | TUFM | c.347T>A (p.Val116Glu) c.248-326T>A (n.248-326T>A) | |
| 16 | g.28845382C>A | CA395418361 | TUFM | c.346G>T (p.Val116Leu) c.248-327G>T (n.248-327G>T) | |
| 16 | g.28845382C>G | CA395418360 | TUFM | c.346G>C (p.Val116Leu) c.248-327G>C (n.248-327G>C) | |
| 16 | g.28845382C>T | CA395418357 | TUFM | c.346G>A (p.Val116Met) c.248-327G>A (n.248-327G>A) | gnomAD v4 |
| 16 | g.28845383A= | CA2215863968 | TUFM | c.345T= (p.His115=) c.248-328T= (n.248-328T=) | |
| 16 | g.28845383A>C | CA7985670 | TUFM | c.345T>G (p.His115Gln) c.248-328T>G (n.248-328T>G) | dbSNP ExAC gnomAD v2 |
| 16 | g.28845383A>G | CA494484864 | TUFM | c.345T>C (p.His115=) c.248-328T>C (n.248-328T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845383A>T | CA395418362 | TUFM | c.345T>A (p.His115Gln) c.248-328T>A (n.248-328T>A) | |
| 16 | g.28845384T>A | CA395418364 | TUFM | c.344A>T (p.His115Leu) c.248-329A>T (n.248-329A>T) | |
| 16 | g.28845384T>C | CA395418400 | TUFM | c.344A>G (p.His115Arg) c.248-329A>G (n.248-329A>G) | gnomAD v4 |
| 16 | g.28845384T>G | CA395418402 | TUFM | c.344A>C (p.His115Pro) c.248-329A>C (n.248-329A>C) | |
| 16 | g.28845385G>A | CA395418404 | TUFM | c.343C>T (p.His115Tyr) c.248-330C>T (n.248-330C>T) | |
| 16 | g.28845385G>C | CA395418406 | TUFM | c.343C>G (p.His115Asp) c.248-330C>G (n.248-330C>G) | |
| 16 | g.28845385G>T | CA395418413 | TUFM | c.343C>A (p.His115Asn) c.248-330C>A (n.248-330C>A) | |
| 16 | g.28845386A= | CA2215863975 | TUFM | c.342T= (p.Ala114=) c.248-331T= (n.248-331T=) | |
| 16 | g.28845386A>C | CA494484865 | TUFM | c.342T>G (p.Ala114=) c.248-331T>G (n.248-331T>G) | |
| 16 | g.28845386A>G | CA7985671 | TUFM | c.342T>C (p.Ala114=) c.248-331T>C (n.248-331T>C) | dbSNP ExAC gnomAD v2 |
| 16 | g.28845386A>T | CA494484866 | TUFM | c.342T>A (p.Ala114=) c.248-331T>A (n.248-331T>A) | |
| 16 | g.28845387G>A | CA395418416 | TUFM | c.341C>T (p.Ala114Val) c.248-332C>T (n.248-332C>T) | |
| 16 | g.28845387G>C | CA395418417 | TUFM | c.341C>G (p.Ala114Gly) c.248-332C>G (n.248-332C>G) | |
| 16 | g.28845387G>T | CA395418418 | TUFM | c.341C>A (p.Ala114Asp) c.248-332C>A (n.248-332C>A) | |
| 16 | g.28845388C>A | CA395418423 | TUFM | c.340G>T (p.Ala114Ser) c.248-333G>T (n.248-333G>T) | |
| 16 | g.28845388C>G | CA395418422 | TUFM | c.340G>C (p.Ala114Pro) c.248-333G>C (n.248-333G>C) | |
| 16 | g.28845388C>T | CA395418420 | TUFM | c.340G>A (p.Ala114Thr) c.248-333G>A (n.248-333G>A) | |
| 16 | g.28845391_28845409dup | CA2632531330 | TUFM | c.322_340dup (p.Ala114GlyfsTer12) c.248-351_248-333dup (n.248-351_248-333dup) | gnomAD v4 |
| 16 | g.28845389C>A | CA494484868 | TUFM | c.339G>T (p.Ala113=) c.248-334G>T (n.248-334G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845389C= | CA2215863982 | TUFM | c.339G= (p.Ala113=) c.248-334G= (n.248-334G=) | |
| 16 | g.28845389C>G | CA494484867 | TUFM | c.339G>C (p.Ala113=) c.248-334G>C (n.248-334G>C) | |
| 16 | g.28845389C>T | CA7985672 | TUFM | c.339G>A (p.Ala113=) c.248-334G>A (n.248-334G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845390G>A | CA7985673 | TUFM | c.338C>T (p.Ala113Val) c.248-335C>T (n.248-335C>T) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 16 | g.28845390G>C | CA395418433 | TUFM | c.338C>G (p.Ala113Gly) c.248-335C>G (n.248-335C>G) | |
| 16 | g.28845390G= | CA2215863989 | TUFM | c.338C= (p.Ala113=) c.248-335C= (n.248-335C=) | |
| 16 | g.28845390G>T | CA395418436 | TUFM | c.338C>A (p.Ala113Glu) c.248-335C>A (n.248-335C>A) | |
| 16 | g.28845391C>A | CA395418437 | TUFM | c.337G>T (p.Ala113Ser) c.248-336G>T (n.248-336G>T) | |
| 16 | g.28845391C>G | CA395418439 | TUFM | c.337G>C (p.Ala113Pro) c.248-336G>C (n.248-336G>C) | |
| 16 | g.28845391C>T | CA395418448 | TUFM | c.337G>A (p.Ala113Thr) c.248-336G>A (n.248-336G>A) | |
| 16 | g.28845392A= | CA2215863993 | TUFM | c.336T= (p.Asn112=) c.248-337T= (n.248-337T=) | |
| 16 | g.28845392A>C | CA395418449 | TUFM | c.336T>G (p.Asn112Lys) c.248-337T>G (n.248-337T>G) | |
| 16 | g.28845392A>G | CA494484869 | TUFM | c.336T>C (p.Asn112=) c.248-337T>C (n.248-337T>C) | dbSNP |
| 16 | g.28845392A>T | CA395418450 | TUFM | c.336T>A (p.Asn112Lys) c.248-337T>A (n.248-337T>A) | |
| 16 | g.28845393T>A | CA395418451 | TUFM | c.335A>T (p.Asn112Ile) c.248-338A>T (n.248-338A>T) | |
| 16 | g.28845393T>C | CA7985674 | TUFM | c.335A>G (p.Asn112Ser) c.248-338A>G (n.248-338A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28845393T>G | CA395418452 | TUFM | c.335A>C (p.Asn112Thr) c.248-338A>C (n.248-338A>C) | |
| 16 | g.28845393T= | CA2215863995 | TUFM | c.335A= (p.Asn112=) c.248-338A= (n.248-338A=) | |
| 16 | g.28845394T>A | CA395418460 | TUFM | c.334A>T (p.Asn112Tyr) c.248-339A>T (n.248-339A>T) | |
| 16 | g.28845394T>C | CA395418461 | TUFM | c.334A>G (p.Asn112Asp) c.248-339A>G (n.248-339A>G) | |
| 16 | g.28845394T>G | CA395418454 | TUFM | c.334A>C (p.Asn112His) c.248-339A>C (n.248-339A>C) | gnomAD v4 |
| 16 | g.28845395G>A | CA494484870 | TUFM | c.333C>T (p.Ile111=) c.248-340C>T (n.248-340C>T) | |
| 16 | g.28845395G>C | CA395418463 | TUFM | c.333C>G (p.Ile111Met) c.248-340C>G (n.248-340C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.28845395G= | CA2215863999 | TUFM | c.333C= (p.Ile111=) c.248-340C= (n.248-340C=) | |
| 16 | g.28845395G>T | CA494484871 | TUFM | c.333C>A (p.Ile111=) c.248-340C>A (n.248-340C>A) | |
| 16 | g.28845396A>C | CA395418466 | TUFM | c.332T>G (p.Ile111Ser) c.248-341T>G (n.248-341T>G) | |
| 16 | g.28845396A>G | CA395418467 | TUFM | c.332T>C (p.Ile111Thr) c.248-341T>C (n.248-341T>C) | |
| 16 | g.28845396A>T | CA395418468 | TUFM | c.332T>A (p.Ile111Asn) c.248-341T>A (n.248-341T>A) | |
| 16 | g.28845397T>A | CA395418470 | TUFM | c.331A>T (p.Ile111Phe) c.248-342A>T (n.248-342A>T) | |
| 16 | g.28845397T>C | CA7985675 | TUFM | c.331A>G (p.Ile111Val) c.248-342A>G (n.248-342A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28845397T>G | CA395418472 | TUFM | c.331A>C (p.Ile111Leu) c.248-342A>C (n.248-342A>C) | |
| 16 | g.28845397T= | CA2215864003 | TUFM | c.331A= (p.Ile111=) c.248-342A= (n.248-342A=) | |
| 16 | g.28845398G>A | CA494484872 | TUFM | c.330C>T (p.Thr110=) c.248-343C>T (n.248-343C>T) | gnomAD v4 |
| 16 | g.28845398G>C | CA494484873 | TUFM | c.330C>G (p.Thr110=) c.248-343C>G (n.248-343C>G) | |
| 16 | g.28845398G>T | CA494484874 | TUFM | c.330C>A (p.Thr110=) c.248-343C>A (n.248-343C>A) | |
| 16 | g.28845398_28845405delinsGGTGATAC | CA2215864009 | TUFM | c.323_330delinsGTATCACC (p.Gly108=) c.248-350_248-343delinsGTATCACC (n.248-350_248-343delinsGTATCACC) | |
| 16 | g.28845399G>A | CA395418474 | TUFM | c.329C>T (p.Thr110Ile) c.248-344C>T (n.248-344C>T) | |
| 16 | g.28845399G>C | CA395418476 | TUFM | c.329C>G (p.Thr110Ser) c.248-344C>G (n.248-344C>G) | |
| 16 | g.28845399G>T | CA395418477 | TUFM | c.329C>A (p.Thr110Asn) c.248-344C>A (n.248-344C>A) | |
| 16 | g.28845399_28845405del | CA7985676 | TUFM | c.323_329del (p.Gly108AlafsTer?) c.248-350_248-344del (n.248-350_248-344del) | dbSNP ExAC gnomAD v2 |
| 16 | g.28845400T>A | CA395418478 | TUFM | c.328A>T (p.Thr110Ser) c.248-345A>T (n.248-345A>T) | |
| 16 | g.28845400T>C | CA395418479 | TUFM | c.328A>G (p.Thr110Ala) c.248-345A>G (n.248-345A>G) | dbSNP |
| 16 | g.28845400T>G | CA395418480 | TUFM | c.328A>C (p.Thr110Pro) c.248-345A>C (n.248-345A>C) | |
| 16 | g.28845400T= | CA2215864018 | TUFM | c.328A= (p.Thr110=) c.248-345A= (n.248-345A=) | |
| 16 | g.28845401G>A | CA494484875 | TUFM | c.327C>T (p.Ile109=) c.248-346C>T (n.248-346C>T) | |
| 16 | g.28845401G>C | CA395418481 | TUFM | c.327C>G (p.Ile109Met) c.248-346C>G (n.248-346C>G) | gnomAD v4 |
| 16 | g.28845401G>T | CA494484876 | TUFM | c.327C>A (p.Ile109=) c.248-346C>A (n.248-346C>A) | |
| 16 | g.28845402A>C | CA395418483 | TUFM | c.326T>G (p.Ile109Ser) c.248-347T>G (n.248-347T>G) | |
| 16 | g.28845402A>G | CA395418484 | TUFM | c.326T>C (p.Ile109Thr) c.248-347T>C (n.248-347T>C) | gnomAD v4 |
| 16 | g.28845402A>T | CA395418485 | TUFM | c.326T>A (p.Ile109Asn) c.248-347T>A (n.248-347T>A) | |
| 16 | g.28845403T>A | CA395418487 | TUFM | c.325A>T (p.Ile109Phe) c.248-348A>T (n.248-348A>T) | |
| 16 | g.28845403T>C | CA395418488 | TUFM | c.325A>G (p.Ile109Val) c.248-348A>G (n.248-348A>G) | gnomAD v4 |
| 16 | g.28845403T>G | CA395418492 | TUFM | c.325A>C (p.Ile109Leu) c.248-348A>C (n.248-348A>C) | |
| 16 | g.28845404A>C | CA494484877 | TUFM | c.324T>G (p.Gly108=) c.248-349T>G (n.248-349T>G) | |
| 16 | g.28845404A>G | CA494484878 | TUFM | c.324T>C (p.Gly108=) c.248-349T>C (n.248-349T>C) | COSMIC |
| 16 | g.28845404A>T | CA494484879 | TUFM | c.324T>A (p.Gly108=) c.248-349T>A (n.248-349T>A) | |
| 16 | g.28845405C>A | CA395418493 | TUFM | c.323G>T (p.Gly108Val) c.248-350G>T (n.248-350G>T) | gnomAD v4 |
| 16 | g.28845405C= | CA2215864020 | TUFM | c.323G= (p.Gly108=) c.248-350G= (n.248-350G=) | |
| 16 | g.28845405C>G | CA7985677 | TUFM | c.323G>C (p.Gly108Ala) c.248-350G>C (n.248-350G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845405C>T | CA395418494 | TUFM | c.323G>A (p.Gly108Asp) c.248-350G>A (n.248-350G>A) | |
| 16 | g.28845406C>A | CA395418505 | TUFM | c.322G>T (p.Gly108Cys) c.248-351G>T (n.248-351G>T) | |
| 16 | g.28845406C>G | CA395418508 | TUFM | c.322G>C (p.Gly108Arg) c.248-351G>C (n.248-351G>C) | |
| 16 | g.28845406C>T | CA395418511 | TUFM | c.322G>A (p.Gly108Ser) c.248-351G>A (n.248-351G>A) | |
| 16 | g.28845407C>A | CA494484880 | TUFM | c.321G>T (p.Arg107=) c.248-352G>T (n.248-352G>T) | |
| 16 | g.28845407C= | CA2215864026 | TUFM | c.321G= (p.Arg107=) c.248-352G= (n.248-352G=) | |
| 16 | g.28845407C>G | CA494484881 | TUFM | c.321G>C (p.Arg107=) c.248-352G>C (n.248-352G>C) | dbSNP |
| 16 | g.28845407C>T | CA7985678 | TUFM | c.321G>A (p.Arg107=) c.248-352G>A (n.248-352G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845408C>A | CA395418519 | TUFM | c.320G>T (p.Arg107Leu) c.248-353G>T (n.248-353G>T) | |
| 16 | g.28845408C= | CA2215864036 | TUFM | c.320G= (p.Arg107=) c.248-353G= (n.248-353G=) | |
| 16 | g.28845408C>G | CA395418518 | TUFM | c.320G>C (p.Arg107Pro) c.248-353G>C (n.248-353G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845408C>T | CA395418515 | TUFM | c.320G>A (p.Arg107Gln) c.248-353G>A (n.248-353G>A) | |
| 16 | g.28845409G>A | CA7985679 | TUFM | c.319C>T (p.Arg107Trp) c.248-354C>T (n.248-354C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28845409G>C | CA395418529 | TUFM | c.319C>G (p.Arg107Gly) c.248-354C>G (n.248-354C>G) | |
| 16 | g.28845409G= | CA2215864042 | TUFM | c.319C= (p.Arg107=) c.248-354C= (n.248-354C=) | |
| 16 | g.28845409G>T | CA494484882 | TUFM | c.319C>A (p.Arg107=) c.248-354C>A (n.248-354C>A) | |
| 16 | g.28845410A= | CA2215864051 | TUFM | c.318T= (p.Ala106=) c.248-355T= (n.248-355T=) | |
| 16 | g.28845410A>C | CA494484885 | TUFM | c.318T>G (p.Ala106=) c.248-355T>G (n.248-355T>G) | |
| 16 | g.28845410A>G | CA494484884 | TUFM | c.318T>C (p.Ala106=) c.248-355T>C (n.248-355T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845410A>T | CA494484883 | TUFM | c.318T>A (p.Ala106=) c.248-355T>A (n.248-355T>A) | |
| 16 | g.28845411G>A | CA395418533 | TUFM | c.317C>T (p.Ala106Val) c.248-356C>T (n.248-356C>T) | |
| 16 | g.28845411G>C | CA395418535 | TUFM | c.317C>G (p.Ala106Gly) c.248-356C>G (n.248-356C>G) | |
| 16 | g.28845411G>T | CA395418536 | TUFM | c.317C>A (p.Ala106Asp) c.248-356C>A (n.248-356C>A) | |
| 16 | g.28845412C>A | CA395418538 | TUFM | c.316G>T (p.Ala106Ser) c.248-357G>T (n.248-357G>T) | |
| 16 | g.28845412C= | CA2215864063 | TUFM | c.316G= (p.Ala106=) c.248-357G= (n.248-357G=) | |
| 16 | g.28845412C>G | CA395418541 | TUFM | c.316G>C (p.Ala106Pro) c.248-357G>C (n.248-357G>C) | |
| 16 | g.28845412C>T | CA7985680 | TUFM | c.316G>A (p.Ala106Thr) c.248-357G>A (n.248-357G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28845413T>A | CA494484886 | TUFM | c.315A>T (p.Arg105=) c.248-358A>T (n.248-358A>T) | |
| 16 | g.28845413T>C | CA494484887 | TUFM | c.315A>G (p.Arg105=) c.248-358A>G (n.248-358A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845413T>G | CA494484888 | TUFM | c.315A>C (p.Arg105=) c.248-358A>C (n.248-358A>C) | |
| 16 | g.28845413T= | CA2215864067 | TUFM | c.315A= (p.Arg105=) c.248-358A= (n.248-358A=) | |
| 16 | g.28845414C>A | CA395418542 | TUFM | c.314G>T (p.Arg105Leu) c.248-359G>T (n.248-359G>T) | |
| 16 | g.28845414C= | CA2215864069 | TUFM | c.314G= (p.Arg105=) c.248-359G= (n.248-359G=) | |
| 16 | g.28845414C>G | CA395418543 | TUFM | c.314G>C (p.Arg105Pro) c.248-359G>C (n.248-359G>C) | |
| 16 | g.28845414C>T | CA7985681 | TUFM | c.314G>A (p.Arg105Gln) c.248-359G>A (n.248-359G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28845415G>A | CA395418544 | TUFM | c.313C>T (p.Arg105Ter) c.248-360C>T (n.248-360C>T) | gnomAD v4 |
| 16 | g.28845415G>C | CA395418545 | TUFM | c.313C>G (p.Arg105Gly) c.248-360C>G (n.248-360C>G) | |
| 16 | g.28845415G>T | CA494484889 | TUFM | c.313C>A (p.Arg105=) c.248-360C>A (n.248-360C>A) | |
| 16 | g.28845416C>A | CA395418546 | TUFM | c.312G>T (p.Glu104Asp) c.248-361G>T (n.248-361G>T) | |
| 16 | g.28845416C>G | CA395418547 | TUFM | c.312G>C (p.Glu104Asp) c.248-361G>C (n.248-361G>C) | |
| 16 | g.28845416C>T | CA494484890 | TUFM | c.312G>A (p.Glu104=) c.248-361G>A (n.248-361G>A) | gnomAD v4 |
| 16 | g.28845417T>A | CA395418549 | TUFM | c.311A>T (p.Glu104Val) c.248-362A>T (n.248-362A>T) | |
| 16 | g.28845417T>C | CA395418562 | TUFM | c.311A>G (p.Glu104Gly) c.248-362A>G (n.248-362A>G) | |
| 16 | g.28845417T>G | CA395418554 | TUFM | c.311A>C (p.Glu104Ala) c.248-362A>C (n.248-362A>C) | |
| 16 | g.28845417_28845418delinsTC | CA2215864071 | TUFM | c.310_311delinsGA (p.Glu104=) c.248-363_248-362delinsGA (n.248-363_248-362delinsGA) | |
| 16 | g.28845418C>A | CA395418565 | TUFM | c.310G>T (p.Glu104Ter) c.248-363G>T (n.248-363G>T) | |
| 16 | g.28845418C>G | CA395418569 | TUFM | c.310G>C (p.Glu104Gln) c.248-363G>C (n.248-363G>C) | |
| 16 | g.28845418C>T | CA395418577 | TUFM | c.310G>A (p.Glu104Lys) c.248-363G>A (n.248-363G>A) | |
| 16 | g.28845419del | CA2215864074 | TUFM | c.310del (p.Glu104SerfsTer?) c.248-363del (n.248-363del) | dbSNP |