Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.14141567C= | CA1346973801 | TMEM43 | c.*1031-26C= (n.*1031-26C=) c.1001-26C= (n.1001-26C=) n.327+2270C= c.236+2270C= c.896-26C= (n.896-26C=) | |
3 | g.14141567C>G | CA2664571084 | TMEM43 | c.*1031-26C>G (n.*1031-26C>G) c.1001-26C>G (n.1001-26C>G) n.327+2270C>G c.236+2270C>G c.896-26C>G (n.896-26C>G) | gnomAD v4 |
3 | g.14141567C>T | CA050897 | TMEM43 | c.*1031-26C>T (n.*1031-26C>T) c.1001-26C>T (n.1001-26C>T) n.327+2270C>T c.236+2270C>T c.896-26C>T (n.896-26C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14141568C= | CA1346973802 | TMEM43 | c.*1031-25C= (n.*1031-25C=) c.1001-25C= (n.1001-25C=) n.327+2271C= c.236+2271C= c.896-25C= (n.896-25C=) | |
3 | g.14141568_14141569insGTA | CA1045265431 | TMEM43 | c.*1031-25_*1031-24insGTA (n.*1031-25_*1031-24insGTA) c.1001-25_1001-24insGTA (n.1001-25_1001-24insGTA) n.327+2271_327+2272insGTA c.236+2271_236+2272insGTA c.896-25_896-24insGTA (n.896-25_896-24insGTA) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.14141569T>G | CA2664571085 | TMEM43 | c.*1031-24T>G (n.*1031-24T>G) c.1001-24T>G (n.1001-24T>G) n.327+2272T>G c.236+2272T>G c.896-24T>G (n.896-24T>G) | gnomAD v4 |
3 | g.14141570C>T | CA2577516634 | TMEM43 | c.*1031-23C>T (n.*1031-23C>T) c.1001-23C>T (n.1001-23C>T) n.327+2273C>T c.236+2273C>T c.896-23C>T (n.896-23C>T) | gnomAD v4 |
3 | g.14141571A= | CA1346973803 | TMEM43 | c.*1031-22A= (n.*1031-22A=) c.1001-22A= (n.1001-22A=) n.327+2274A= c.236+2274A= c.896-22A= (n.896-22A=) | |
3 | g.14141571A>G | CA1346973804 | TMEM43 | c.*1031-22A>G (n.*1031-22A>G) c.1001-22A>G (n.1001-22A>G) n.327+2274A>G c.236+2274A>G c.896-22A>G (n.896-22A>G) | dbSNP gnomAD v4 |
3 | g.14141572_14141583delinsTCACCTTTCTCC | CA1346973805 | TMEM43 | c.*1031-21_*1031-10delinsTCACCTTTCTCC (n.*1031-21_*1031-10delinsTCACCTTTCTCC) c.1001-21_1001-10delinsTCACCTTTCTCC (n.1001-21_1001-10delinsTCACCTTTCTCC) n.327+2275_327+2286delinsTCACCTTTCTCC c.236+2275_236+2286delinsTCACCTTTCTCC c.896-21_896-10delinsTCACCTTTCTCC (n.896-21_896-10delinsTCACCTTTCTCC) | |
3 | g.14141572_14141573insTAAAA | CA1045265443 | TMEM43 | c.*1031-21_*1031-20insTAAAA (n.*1031-21_*1031-20insTAAAA) c.1001-21_1001-20insTAAAA (n.1001-21_1001-20insTAAAA) n.327+2275_327+2276insTAAAA c.236+2275_236+2276insTAAAA c.896-21_896-20insTAAAA (n.896-21_896-20insTAAAA) | gnomAD v3 gnomAD v4 |
3 | g.14141573_14141583del | CA1045265438 | TMEM43 | c.*1031-20_*1031-10del (n.*1031-20_*1031-10del) c.1001-20_1001-10del (n.1001-20_1001-10del) n.327+2276_327+2286del c.236+2276_236+2286del c.896-20_896-10del (n.896-20_896-10del) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.14141575C= | CA1346973806 | TMEM43 | c.*1031-18C= (n.*1031-18C=) c.1001-18C= (n.1001-18C=) n.327+2278C= c.236+2278C= c.896-18C= (n.896-18C=) | |
3 | g.14141575C>T | CA541676340 | TMEM43 | c.*1031-18C>T (n.*1031-18C>T) c.1001-18C>T (n.1001-18C>T) n.327+2278C>T c.236+2278C>T c.896-18C>T (n.896-18C>T) | dbSNP gnomAD v2 |
3 | g.14141575_14141576del | CA2664571086 | TMEM43 | c.*1031-18_*1031-17del (n.*1031-18_*1031-17del) c.1001-18_1001-17del (n.1001-18_1001-17del) n.327+2278_327+2279del c.236+2278_236+2279del c.896-18_896-17del (n.896-18_896-17del) | gnomAD v4 |
3 | g.14141575_14141583del | CA2755301344 | TMEM43 | c.*1031-18_*1031-10del (n.*1031-18_*1031-10del) c.1001-18_1001-10del (n.1001-18_1001-10del) n.327+2278_327+2286del c.236+2278_236+2286del c.896-18_896-10del (n.896-18_896-10del) | |
3 | g.14141575_14141584del | CA1045265444 | TMEM43 | c.*1031-18_*1031-9del (n.*1031-18_*1031-9del) c.1001-18_1001-9del (n.1001-18_1001-9del) n.327+2278_327+2287del c.236+2278_236+2287del c.896-18_896-9del (n.896-18_896-9del) | gnomAD v3 gnomAD v4 |
3 | g.14141576C>G | CA2664571087 | TMEM43 | c.*1031-17C>G (n.*1031-17C>G) c.1001-17C>G (n.1001-17C>G) n.327+2279C>G c.236+2279C>G c.896-17C>G (n.896-17C>G) | gnomAD v4 |
3 | g.14141578T>C | CA2577516635 | TMEM43 | c.*1031-15T>C (n.*1031-15T>C) c.1001-15T>C (n.1001-15T>C) n.327+2281T>C c.236+2281T>C c.896-15T>C (n.896-15T>C) | |
3 | g.14141578_14141579insAAAAAA | CA2664571088 | TMEM43 | c.*1031-15_*1031-14insAAAAAA (n.*1031-15_*1031-14insAAAAAA) c.1001-15_1001-14insAAAAAA (n.1001-15_1001-14insAAAAAA) n.327+2281_327+2282insAAAAAA c.236+2281_236+2282insAAAAAA c.896-15_896-14insAAAAAA (n.896-15_896-14insAAAAAA) | gnomAD v4 |
3 | g.14141579_14141588del | CA2664571089 | TMEM43 | c.*1031-14_*1031-5del (n.*1031-14_*1031-5del) c.1001-14_1001-5del (n.1001-14_1001-5del) n.327+2282_327+2291del c.236+2282_236+2291del c.896-14_896-5del (n.896-14_896-5del) | gnomAD v4 |
3 | g.14141581_14141586del | CA2664571090 | TMEM43 | c.*1031-12_*1031-7del (n.*1031-12_*1031-7del) c.1001-12_1001-7del (n.1001-12_1001-7del) n.327+2284_327+2289del c.236+2284_236+2289del c.896-12_896-7del (n.896-12_896-7del) | gnomAD v4 |
3 | g.14141582C= | CA1346973807 | TMEM43 | c.*1031-11C= (n.*1031-11C=) c.1001-11C= (n.1001-11C=) n.327+2285C= c.236+2285C= c.896-11C= (n.896-11C=) | |
3 | g.14141582C>G | CA2664571091 | TMEM43 | c.*1031-11C>G (n.*1031-11C>G) c.1001-11C>G (n.1001-11C>G) n.327+2285C>G c.236+2285C>G c.896-11C>G (n.896-11C>G) | gnomAD v4 |
3 | g.14141582C>T | CA050890 | TMEM43 | c.*1031-11C>T (n.*1031-11C>T) c.1001-11C>T (n.1001-11C>T) n.327+2285C>T c.236+2285C>T c.896-11C>T (n.896-11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14141583C= | CA1346973808 | TMEM43 | c.*1031-10C= (n.*1031-10C=) c.1001-10C= (n.1001-10C=) n.327+2286C= c.236+2286C= c.896-10C= (n.896-10C=) | |
3 | g.14141583C>T | CA1346973809 | TMEM43 | c.*1031-10C>T (n.*1031-10C>T) c.1001-10C>T (n.1001-10C>T) n.327+2286C>T c.236+2286C>T c.896-10C>T (n.896-10C>T) | dbSNP |
3 | g.14141584T= | CA1346973810 | TMEM43 | c.*1031-9T= (n.*1031-9T=) c.1001-9T= (n.1001-9T=) n.327+2287T= c.236+2287T= c.896-9T= (n.896-9T=) | |
3 | g.14141584_14141585insAAAAAA | CA1045265445 | TMEM43 | c.*1031-9_*1031-8insAAAAAA (n.*1031-9_*1031-8insAAAAAA) c.1001-9_1001-8insAAAAAA (n.1001-9_1001-8insAAAAAA) n.327+2287_327+2288insAAAAAA c.236+2287_236+2288insAAAAAA c.896-9_896-8insAAAAAA (n.896-9_896-8insAAAAAA) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.14141586T>C | CA050927 | TMEM43 | c.*1031-7T>C (n.*1031-7T>C) c.1001-7T>C (n.1001-7T>C) n.327+2289T>C c.236+2289T>C c.896-7T>C (n.896-7T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.14141586T= | CA1346973811 | TMEM43 | c.*1031-7T= (n.*1031-7T=) c.1001-7T= (n.1001-7T=) n.327+2289T= c.236+2289T= c.896-7T= (n.896-7T=) | |
3 | g.14141586_14141587insAAAA | CA2755301345 | TMEM43 | c.*1031-7_*1031-6insAAAA (n.*1031-7_*1031-6insAAAA) c.1001-7_1001-6insAAAA (n.1001-7_1001-6insAAAA) n.327+2289_327+2290insAAAA c.236+2289_236+2290insAAAA c.896-7_896-6insAAAA (n.896-7_896-6insAAAA) | |
3 | g.14141587C>G | CA2664571092 | TMEM43 | c.*1031-6C>G (n.*1031-6C>G) c.1001-6C>G (n.1001-6C>G) n.327+2290C>G c.236+2290C>G c.896-6C>G (n.896-6C>G) | gnomAD v4 |
3 | g.14141587C>T | CA2499216524 | TMEM43 | c.*1031-6C>T (n.*1031-6C>T) c.1001-6C>T (n.1001-6C>T) n.327+2290C>T c.236+2290C>T c.896-6C>T (n.896-6C>T) | ClinVar dbSNP gnomAD v4 |
3 | g.14141587_14141588insAAAA | CA2755301346 | TMEM43 | c.*1031-6_*1031-5insAAAA (n.*1031-6_*1031-5insAAAA) c.1001-6_1001-5insAAAA (n.1001-6_1001-5insAAAA) n.327+2290_327+2291insAAAA c.236+2290_236+2291insAAAA c.896-6_896-5insAAAA (n.896-6_896-5insAAAA) | |
3 | g.14141588C>A | CA2755301347 | TMEM43 | c.*1031-5C>A (n.*1031-5C>A) c.1001-5C>A (n.1001-5C>A) n.327+2291C>A c.236+2291C>A c.896-5C>A (n.896-5C>A) | |
3 | g.14141589A= | CA1346973812 | TMEM43 | c.*1031-4A= (n.*1031-4A=) c.1001-4A= (n.1001-4A=) n.327+2292A= c.236+2292A= c.896-4A= (n.896-4A=) | |
3 | g.14141589A>G | CA2573136054 | TMEM43 | c.*1031-4A>G (n.*1031-4A>G) c.1001-4A>G (n.1001-4A>G) n.327+2292A>G c.236+2292A>G c.896-4A>G (n.896-4A>G) | ClinVar dbSNP gnomAD v4 |
3 | g.14141589A>T | CA69738087 | TMEM43 | c.*1031-4A>T (n.*1031-4A>T) c.1001-4A>T (n.1001-4A>T) n.327+2292A>T c.236+2292A>T c.896-4A>T (n.896-4A>T) | dbSNP |
3 | g.14141590C= | CA1346973813 | TMEM43 | c.*1031-3C= (n.*1031-3C=) c.1001-3C= (n.1001-3C=) n.327+2293C= c.236+2293C= c.896-3C= (n.896-3C=) | |
3 | g.14141590C>T | CA658683300 | TMEM43 | c.*1031-3C>T (n.*1031-3C>T) c.1001-3C>T (n.1001-3C>T) n.327+2293C>T c.236+2293C>T c.896-3C>T (n.896-3C>T) | ClinVar dbSNP gnomAD v4 |
3 | g.14141591A>C | CA351536335 | TMEM43 | c.*1031-2A>C (n.*1031-2A>C) c.1001-2A>C (n.1001-2A>C) n.327+2294A>C c.236+2294A>C c.896-2A>C (n.896-2A>C) | |
3 | g.14141591A>G | CA351536336 | TMEM43 | c.*1031-2A>G (n.*1031-2A>G) c.1001-2A>G (n.1001-2A>G) n.327+2294A>G c.236+2294A>G c.896-2A>G (n.896-2A>G) | gnomAD v4 |
3 | g.14141591A>T | CA351536337 | TMEM43 | c.*1031-2A>T (n.*1031-2A>T) c.1001-2A>T (n.1001-2A>T) n.327+2294A>T c.236+2294A>T c.896-2A>T (n.896-2A>T) | |
3 | g.14141592G>A | CA351536338 | TMEM43 | c.*1031-1G>A (n.*1031-1G>A) c.1001-1G>A (n.1001-1G>A) n.327+2295G>A c.236+2295G>A c.896-1G>A (n.896-1G>A) | |
3 | g.14141592G>C | CA351536339 | TMEM43 | c.*1031-1G>C (n.*1031-1G>C) c.1001-1G>C (n.1001-1G>C) n.327+2295G>C c.236+2295G>C c.896-1G>C (n.896-1G>C) | |
3 | g.14141592G>T | CA351536340 | TMEM43 | c.*1031-1G>T (n.*1031-1G>T) c.1001-1G>T (n.1001-1G>T) n.327+2295G>T c.236+2295G>T c.896-1G>T (n.896-1G>T) | |
3 | g.14141593T>A | CA351536341 | TMEM43 | c.*1031T>A (n.*1031T>A) c.1001T>A (p.Val334Glu) n.327+2296T>A c.236+2296T>A c.896T>A (p.Val299Glu) | |
3 | g.14141593T>C | CA351536342 | TMEM43 | c.*1031T>C (n.*1031T>C) c.1001T>C (p.Val334Ala) n.327+2296T>C c.236+2296T>C c.896T>C (p.Val299Ala) | |
3 | g.14141593T>G | CA351536343 | TMEM43 | c.*1031T>G (n.*1031T>G) c.1001T>G (p.Val334Gly) n.327+2296T>G c.236+2296T>G c.896T>G (p.Val299Gly) | |
3 | g.14141593dup | CA2697550692 | TMEM43 | c.*1031dup (n.*1031dup) c.1001dup (p.Asp335GlyfsTer?) n.327+2296dup c.236+2296dup c.896dup (p.Asp300GlyfsTer?) | ClinVar |
3 | g.14141596_14141600del | CA2664571093 | TMEM43 | c.*1034_*1038del (n.*1034_*1038del) c.1004_1008del (p.Asp335ValfsTer?) n.327+2299_327+2303del c.236+2299_236+2303del c.899_903del (p.Asp300ValfsTer?) | gnomAD v4 |
3 | g.14141594G>A | CA432552804 | TMEM43 | c.*1032G>A (n.*1032G>A) c.1002G>A (p.Val334=) n.327+2297G>A c.236+2297G>A c.897G>A (p.Val299=) | dbSNP |
3 | g.14141594G>C | CA432552805 | TMEM43 | c.*1032G>C (n.*1032G>C) c.1002G>C (p.Val334=) n.327+2297G>C c.236+2297G>C c.897G>C (p.Val299=) | |
3 | g.14141594G= | CA1346973814 | TMEM43 | c.*1032G= (n.*1032G=) c.1002G= (p.Val334=) n.327+2297G= c.236+2297G= c.897G= (p.Val299=) | |
3 | g.14141594G>T | CA432552806 | TMEM43 | c.*1032G>T (n.*1032G>T) c.1002G>T (p.Val334=) n.327+2297G>T c.236+2297G>T c.897G>T (p.Val299=) | dbSNP gnomAD v4 |
3 | g.14141595G>A | CA351536344 | TMEM43 | c.*1033G>A (n.*1033G>A) c.1003G>A (p.Asp335Asn) n.327+2298G>A c.236+2298G>A c.898G>A (p.Asp300Asn) | gnomAD v3 gnomAD v4 |
3 | g.14141595G>C | CA351536345 | TMEM43 | c.*1033G>C (n.*1033G>C) c.1003G>C (p.Asp335His) n.327+2298G>C c.236+2298G>C c.898G>C (p.Asp300His) | |
3 | g.14141595G>T | CA351536346 | TMEM43 | c.*1033G>T (n.*1033G>T) c.1003G>T (p.Asp335Tyr) n.327+2298G>T c.236+2298G>T c.898G>T (p.Asp300Tyr) | |
3 | g.14141596A= | CA1346973815 | TMEM43 | c.*1034A= (n.*1034A=) c.1004A= (p.Asp335=) n.327+2299A= c.236+2299A= c.899A= (p.Asp300=) | |
3 | g.14141596A>C | CA351536347 | TMEM43 | c.*1034A>C (n.*1034A>C) c.1004A>C (p.Asp335Ala) n.327+2299A>C c.236+2299A>C c.899A>C (p.Asp300Ala) | |
3 | g.14141596A>G | CA351536349 | TMEM43 | c.*1034A>G (n.*1034A>G) c.1004A>G (p.Asp335Gly) n.327+2299A>G c.236+2299A>G c.899A>G (p.Asp300Gly) | ClinVar dbSNP |
3 | g.14141596A>T | CA351536348 | TMEM43 | c.*1034A>T (n.*1034A>T) c.1004A>T (p.Asp335Val) n.327+2299A>T c.236+2299A>T c.899A>T (p.Asp300Val) | |
3 | g.14141597C>A | CA351536350 | TMEM43 | c.*1035C>A (n.*1035C>A) c.1005C>A (p.Asp335Glu) n.327+2300C>A c.236+2300C>A c.900C>A (p.Asp300Glu) | ClinVar dbSNP |
3 | g.14141597C>G | CA351536351 | TMEM43 | c.*1035C>G (n.*1035C>G) c.1005C>G (p.Asp335Glu) n.327+2300C>G c.236+2300C>G c.900C>G (p.Asp300Glu) | |
3 | g.14141597C>T | CA432552809 | TMEM43 | c.*1035C>T (n.*1035C>T) c.1005C>T (p.Asp335=) n.327+2300C>T c.236+2300C>T c.900C>T (p.Asp300=) | |
3 | g.14141598T>A | CA351536352 | TMEM43 | c.*1036T>A (n.*1036T>A) c.1006T>A (p.Trp336Arg) n.327+2301T>A c.236+2301T>A c.901T>A (p.Trp301Arg) | |
3 | g.14141598T>C | CA351536353 | TMEM43 | c.*1036T>C (n.*1036T>C) c.1006T>C (p.Trp336Arg) n.327+2301T>C c.236+2301T>C c.901T>C (p.Trp301Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.14141598T>G | CA351536354 | TMEM43 | c.*1036T>G (n.*1036T>G) c.1006T>G (p.Trp336Gly) n.327+2301T>G c.236+2301T>G c.901T>G (p.Trp301Gly) | |
3 | g.14141598T= | CA1346973816 | TMEM43 | c.*1036T= (n.*1036T=) c.1006T= (p.Trp336=) n.327+2301T= c.236+2301T= c.901T= (p.Trp301=) | |
3 | g.14141599G>A | CA351536355 | TMEM43 | c.*1037G>A (n.*1037G>A) c.1007G>A (p.Trp336Ter) n.327+2302G>A c.236+2302G>A c.902G>A (p.Trp301Ter) | |
3 | g.14141599G>C | CA351536356 | TMEM43 | c.*1037G>C (n.*1037G>C) c.1007G>C (p.Trp336Ser) n.327+2302G>C c.236+2302G>C c.902G>C (p.Trp301Ser) | |
3 | g.14141599G>T | CA351536357 | TMEM43 | c.*1037G>T (n.*1037G>T) c.1007G>T (p.Trp336Leu) n.327+2302G>T c.236+2302G>T c.902G>T (p.Trp301Leu) | |
3 | g.14141600G>A | CA351536358 | TMEM43 | c.*1038G>A (n.*1038G>A) c.1008G>A (p.Trp336Ter) n.327+2303G>A c.236+2303G>A c.903G>A (p.Trp301Ter) | |
3 | g.14141600G>C | CA351536359 | TMEM43 | c.*1038G>C (n.*1038G>C) c.1008G>C (p.Trp336Cys) n.327+2303G>C c.236+2303G>C c.903G>C (p.Trp301Cys) | gnomAD v4 |
3 | g.14141600G>T | CA351536360 | TMEM43 | c.*1038G>T (n.*1038G>T) c.1008G>T (p.Trp336Cys) n.327+2303G>T c.236+2303G>T c.903G>T (p.Trp301Cys) | |
3 | g.14141601T>A | CA351536363 | TMEM43 | c.*1039T>A (n.*1039T>A) c.1009T>A (p.Phe337Ile) n.327+2304T>A c.236+2304T>A c.904T>A (p.Phe302Ile) | |
3 | g.14141601T>C | CA351536362 | TMEM43 | c.*1039T>C (n.*1039T>C) c.1009T>C (p.Phe337Leu) n.327+2304T>C c.236+2304T>C c.904T>C (p.Phe302Leu) | |
3 | g.14141601T>G | CA351536361 | TMEM43 | c.*1039T>G (n.*1039T>G) c.1009T>G (p.Phe337Val) n.327+2304T>G c.236+2304T>G c.904T>G (p.Phe302Val) | |
3 | g.14141602T>A | CA050933 | TMEM43 | c.*1040T>A (n.*1040T>A) c.1010T>A (p.Phe337Tyr) n.327+2305T>A c.236+2305T>A c.905T>A (p.Phe302Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14141602T>C | CA351536364 | TMEM43 | c.*1040T>C (n.*1040T>C) c.1010T>C (p.Phe337Ser) n.327+2305T>C c.236+2305T>C c.905T>C (p.Phe302Ser) | |
3 | g.14141602T>G | CA351536365 | TMEM43 | c.*1040T>G (n.*1040T>G) c.1010T>G (p.Phe337Cys) n.327+2305T>G c.236+2305T>G c.905T>G (p.Phe302Cys) | |
3 | g.14141602T= | CA1346973817 | TMEM43 | c.*1040T= (n.*1040T=) c.1010T= (p.Phe337=) n.327+2305T= c.236+2305T= c.905T= (p.Phe302=) | |
3 | g.14141603T>A | CA351536366 | TMEM43 | c.*1041T>A (n.*1041T>A) c.1011T>A (p.Phe337Leu) n.327+2306T>A c.236+2306T>A c.906T>A (p.Phe302Leu) | |
3 | g.14141603T>C | CA432552820 | TMEM43 | c.*1041T>C (n.*1041T>C) c.1011T>C (p.Phe337=) n.327+2306T>C c.236+2306T>C c.906T>C (p.Phe302=) | |
3 | g.14141603T>G | CA351536367 | TMEM43 | c.*1041T>G (n.*1041T>G) c.1011T>G (p.Phe337Leu) n.327+2306T>G c.236+2306T>G c.906T>G (p.Phe302Leu) | |
3 | g.14141604C>A | CA351536368 | TMEM43 | c.*1042C>A (n.*1042C>A) c.1012C>A (p.Pro338Thr) n.327+2307C>A c.236+2307C>A c.907C>A (p.Pro303Thr) | |
3 | g.14141604C>G | CA351536369 | TMEM43 | c.*1042C>G (n.*1042C>G) c.1012C>G (p.Pro338Ala) n.327+2307C>G c.236+2307C>G c.907C>G (p.Pro303Ala) | |
3 | g.14141604C>T | CA351536370 | TMEM43 | c.*1042C>T (n.*1042C>T) c.1012C>T (p.Pro338Ser) n.327+2307C>T c.236+2307C>T c.907C>T (p.Pro303Ser) | |
3 | g.14141605C>A | CA351536371 | TMEM43 | c.*1043C>A (n.*1043C>A) c.1013C>A (p.Pro338His) n.327+2308C>A c.236+2308C>A c.908C>A (p.Pro303His) | |
3 | g.14141605C= | CA1346973818 | TMEM43 | c.*1043C= (n.*1043C=) c.1013C= (p.Pro338=) n.327+2308C= c.236+2308C= c.908C= (p.Pro303=) | |
3 | g.14141605C>G | CA351536372 | TMEM43 | c.*1043C>G (n.*1043C>G) c.1013C>G (p.Pro338Arg) n.327+2308C>G c.236+2308C>G c.908C>G (p.Pro303Arg) | |
3 | g.14141605C>T | CA050947 | TMEM43 | c.*1043C>T (n.*1043C>T) c.1013C>T (p.Pro338Leu) n.327+2308C>T c.236+2308C>T c.908C>T (p.Pro303Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.14141606T>A | CA432552823 | TMEM43 | c.*1044T>A (n.*1044T>A) c.1014T>A (p.Pro338=) n.327+2309T>A c.236+2309T>A c.909T>A (p.Pro303=) | |
3 | g.14141606T>C | CA432552824 | TMEM43 | c.*1044T>C (n.*1044T>C) c.1014T>C (p.Pro338=) n.327+2309T>C c.236+2309T>C c.909T>C (p.Pro303=) | gnomAD v4 |
3 | g.14141606T>G | CA432552825 | TMEM43 | c.*1044T>G (n.*1044T>G) c.1014T>G (p.Pro338=) n.327+2309T>G c.236+2309T>G c.909T>G (p.Pro303=) | |
3 | g.14141607_14141608dup | CA913188067 | TMEM43 | c.*1045_*1046dup (n.*1045_*1046dup) c.1015_1016dup (p.Arg341SerfsTer9) n.327+2310_327+2311dup c.236+2310_236+2311dup c.910_911dup (p.Arg306SerfsTer9) | ClinVar dbSNP |
3 | g.14141607G>A | CA351536373 | TMEM43 | c.*1045G>A (n.*1045G>A) c.1015G>A (p.Val339Ile) n.327+2310G>A c.236+2310G>A c.910G>A (p.Val304Ile) | ClinVar dbSNP gnomAD v4 |
3 | g.14141607G>C | CA351536374 | TMEM43 | c.*1045G>C (n.*1045G>C) c.1015G>C (p.Val339Leu) n.327+2310G>C c.236+2310G>C c.910G>C (p.Val304Leu) | |
3 | g.14141607G= | CA1346973819 | TMEM43 | c.*1045G= (n.*1045G=) c.1015G= (p.Val339=) n.327+2310G= c.236+2310G= c.910G= (p.Val304=) | |
3 | g.14141607G>T | CA351536375 | TMEM43 | c.*1045G>T (n.*1045G>T) c.1015G>T (p.Val339Phe) n.327+2310G>T c.236+2310G>T c.910G>T (p.Val304Phe) | |
3 | g.14141608T>A | CA351536378 | TMEM43 | c.*1046T>A (n.*1046T>A) c.1016T>A (p.Val339Asp) n.327+2311T>A c.236+2311T>A c.911T>A (p.Val304Asp) | |
3 | g.14141608T>C | CA351536376 | TMEM43 | c.*1046T>C (n.*1046T>C) c.1016T>C (p.Val339Ala) n.327+2311T>C c.236+2311T>C c.911T>C (p.Val304Ala) | |
3 | g.14141608T>G | CA351536377 | TMEM43 | c.*1046T>G (n.*1046T>G) c.1016T>G (p.Val339Gly) n.327+2311T>G c.236+2311T>G c.911T>G (p.Val304Gly) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.14141609T>A | CA432552826 | TMEM43 | c.*1047T>A (n.*1047T>A) c.1017T>A (p.Val339=) n.327+2312T>A c.236+2312T>A c.912T>A (p.Val304=) | |
3 | g.14141609T>C | CA432552827 | TMEM43 | c.*1047T>C (n.*1047T>C) c.1017T>C (p.Val339=) n.327+2312T>C c.236+2312T>C c.912T>C (p.Val304=) | |
3 | g.14141609T>G | CA432552828 | TMEM43 | c.*1047T>G (n.*1047T>G) c.1017T>G (p.Val339=) n.327+2312T>G c.236+2312T>G c.912T>G (p.Val304=) | |
3 | g.14141610T>A | CA351536379 | TMEM43 | c.*1048T>A (n.*1048T>A) c.1018T>A (p.Phe340Ile) n.327+2313T>A c.236+2313T>A c.913T>A (p.Phe305Ile) | |
3 | g.14141610T>C | CA351536380 | TMEM43 | c.*1048T>C (n.*1048T>C) c.1018T>C (p.Phe340Leu) n.327+2313T>C c.236+2313T>C c.913T>C (p.Phe305Leu) | |
3 | g.14141610T>G | CA351536381 | TMEM43 | c.*1048T>G (n.*1048T>G) c.1018T>G (p.Phe340Val) n.327+2313T>G c.236+2313T>G c.913T>G (p.Phe305Val) | |
3 | g.14141611T>A | CA351536382 | TMEM43 | c.*1049T>A (n.*1049T>A) c.1019T>A (p.Phe340Tyr) n.327+2314T>A c.236+2314T>A c.914T>A (p.Phe305Tyr) | |
3 | g.14141611T>C | CA351536383 | TMEM43 | c.*1049T>C (n.*1049T>C) c.1019T>C (p.Phe340Ser) n.327+2314T>C c.236+2314T>C c.914T>C (p.Phe305Ser) | ClinVar dbSNP |
3 | g.14141611T>G | CA351536384 | TMEM43 | c.*1049T>G (n.*1049T>G) c.1019T>G (p.Phe340Cys) n.327+2314T>G c.236+2314T>G c.914T>G (p.Phe305Cys) | ClinVar dbSNP |
3 | g.14141611T= | CA1346973820 | TMEM43 | c.*1049T= (n.*1049T=) c.1019T= (p.Phe340=) n.327+2314T= c.236+2314T= c.914T= (p.Phe305=) | |
3 | g.14141612C>A | CA351536385 | TMEM43 | c.*1050C>A (n.*1050C>A) c.1020C>A (p.Phe340Leu) n.327+2315C>A c.236+2315C>A c.915C>A (p.Phe305Leu) | |
3 | g.14141612C>G | CA351536386 | TMEM43 | c.*1050C>G (n.*1050C>G) c.1020C>G (p.Phe340Leu) n.327+2315C>G c.236+2315C>G c.915C>G (p.Phe305Leu) | |
3 | g.14141612C>T | CA432552837 | TMEM43 | c.*1050C>T (n.*1050C>T) c.1020C>T (p.Phe340=) n.327+2315C>T c.236+2315C>T c.915C>T (p.Phe305=) | |
3 | g.14141613C>A | CA432552839 | TMEM43 | c.*1051C>A (n.*1051C>A) c.1021C>A (p.Arg341=) n.327+2316C>A c.236+2316C>A c.916C>A (p.Arg306=) | dbSNP |
3 | g.14141613C= | CA1346973821 | TMEM43 | c.*1051C= (n.*1051C=) c.1021C= (p.Arg341=) n.327+2316C= c.236+2316C= c.916C= (p.Arg306=) | |
3 | g.14141613C>G | CA351536387 | TMEM43 | c.*1051C>G (n.*1051C>G) c.1021C>G (p.Arg341Gly) n.327+2316C>G c.236+2316C>G c.916C>G (p.Arg306Gly) | |
3 | g.14141613C>T | CA050959 | TMEM43 | c.*1051C>T (n.*1051C>T) c.1021C>T (p.Arg341Ter) n.327+2316C>T c.236+2316C>T c.916C>T (p.Arg306Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14141614G>A | CA050968 | TMEM43 | c.*1052G>A (n.*1052G>A) c.1022G>A (p.Arg341Gln) n.327+2317G>A c.236+2317G>A c.917G>A (p.Arg306Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14141614G>C | CA351536388 | TMEM43 | c.*1052G>C (n.*1052G>C) c.1022G>C (p.Arg341Pro) n.327+2317G>C c.236+2317G>C c.917G>C (p.Arg306Pro) | |
3 | g.14141614G= | CA1346973822 | TMEM43 | c.*1052G= (n.*1052G=) c.1022G= (p.Arg341=) n.327+2317G= c.236+2317G= c.917G= (p.Arg306=) | |
3 | g.14141614G>T | CA351536389 | TMEM43 | c.*1052G>T (n.*1052G>T) c.1022G>T (p.Arg341Leu) n.327+2317G>T c.236+2317G>T c.917G>T (p.Arg306Leu) | |
3 | g.14141615A>C | CA432552847 | TMEM43 | c.*1053A>C (n.*1053A>C) c.1023A>C (p.Arg341=) n.327+2318A>C c.236+2318A>C c.918A>C (p.Arg306=) | |
3 | g.14141615A>G | CA432552849 | TMEM43 | c.*1053A>G (n.*1053A>G) c.1023A>G (p.Arg341=) n.327+2318A>G c.236+2318A>G c.918A>G (p.Arg306=) | |
3 | g.14141615A>T | CA432552850 | TMEM43 | c.*1053A>T (n.*1053A>T) c.1023A>T (p.Arg341=) n.327+2318A>T c.236+2318A>T c.918A>T (p.Arg306=) | |
3 | g.14141616G>A | CA351536391 | TMEM43 | c.*1054G>A (n.*1054G>A) c.1024G>A (p.Asp342Asn) n.327+2319G>A c.236+2319G>A c.919G>A (p.Asp307Asn) | |
3 | g.14141616G>C | CA351536392 | TMEM43 | c.*1054G>C (n.*1054G>C) c.1024G>C (p.Asp342His) n.327+2319G>C c.236+2319G>C c.919G>C (p.Asp307His) | |
3 | g.14141616G>T | CA351536390 | TMEM43 | c.*1054G>T (n.*1054G>T) c.1024G>T (p.Asp342Tyr) n.327+2319G>T c.236+2319G>T c.919G>T (p.Asp307Tyr) | |
3 | g.14141617A>C | CA351536393 | TMEM43 | c.*1055A>C (n.*1055A>C) c.1025A>C (p.Asp342Ala) n.327+2320A>C c.236+2320A>C c.920A>C (p.Asp307Ala) | |
3 | g.14141617A>G | CA351536395 | TMEM43 | c.*1055A>G (n.*1055A>G) c.1025A>G (p.Asp342Gly) n.327+2320A>G c.236+2320A>G c.920A>G (p.Asp307Gly) | |
3 | g.14141617A>T | CA351536394 | TMEM43 | c.*1055A>T (n.*1055A>T) c.1025A>T (p.Asp342Val) n.327+2320A>T c.236+2320A>T c.920A>T (p.Asp307Val) | |
3 | g.14141618C>A | CA050984 | TMEM43 | c.*1056C>A (n.*1056C>A) c.1026C>A (p.Asp342Glu) n.327+2321C>A c.236+2321C>A c.921C>A (p.Asp307Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14141618C= | CA1346973823 | TMEM43 | c.*1056C= (n.*1056C=) c.1026C= (p.Asp342=) n.327+2321C= c.236+2321C= c.921C= (p.Asp307=) | |
3 | g.14141618C>G | CA351536396 | TMEM43 | c.*1056C>G (n.*1056C>G) c.1026C>G (p.Asp342Glu) n.327+2321C>G c.236+2321C>G c.921C>G (p.Asp307Glu) | |
3 | g.14141618C>T | CA432552855 | TMEM43 | c.*1056C>T (n.*1056C>T) c.1026C>T (p.Asp342=) n.327+2321C>T c.236+2321C>T c.921C>T (p.Asp307=) | |
3 | g.14141619C>A | CA351536397 | TMEM43 | c.*1057C>A (n.*1057C>A) c.1027C>A (p.Leu343Met) n.327+2322C>A c.236+2322C>A c.922C>A (p.Leu308Met) | |
3 | g.14141619C>G | CA351536398 | TMEM43 | c.*1057C>G (n.*1057C>G) c.1027C>G (p.Leu343Val) n.327+2322C>G c.236+2322C>G c.922C>G (p.Leu308Val) | |
3 | g.14141619C>T | CA432552858 | TMEM43 | c.*1057C>T (n.*1057C>T) c.1027C>T (p.Leu343=) n.327+2322C>T c.236+2322C>T c.922C>T (p.Leu308=) | |
3 | g.14141620T>A | CA351536399 | TMEM43 | c.*1058T>A (n.*1058T>A) c.1028T>A (p.Leu343Gln) n.327+2323T>A c.236+2323T>A c.923T>A (p.Leu308Gln) | ClinVar |
3 | g.14141620T>C | CA050996 | TMEM43 | c.*1058T>C (n.*1058T>C) c.1028T>C (p.Leu343Pro) n.327+2323T>C c.236+2323T>C c.923T>C (p.Leu308Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.14141620T>G | CA351536400 | TMEM43 | c.*1058T>G (n.*1058T>G) c.1028T>G (p.Leu343Arg) n.327+2323T>G c.236+2323T>G c.923T>G (p.Leu308Arg) | |
3 | g.14141620T= | CA1346973824 | TMEM43 | c.*1058T= (n.*1058T=) c.1028T= (p.Leu343=) n.327+2323T= c.236+2323T= c.923T= (p.Leu308=) | |
3 | g.14141621G>A | CA432552859 | TMEM43 | c.*1059G>A (n.*1059G>A) c.1029G>A (p.Leu343=) n.327+2324G>A c.236+2324G>A c.924G>A (p.Leu308=) | |
3 | g.14141621G>C | CA432552861 | TMEM43 | c.*1059G>C (n.*1059G>C) c.1029G>C (p.Leu343=) n.327+2324G>C c.236+2324G>C c.924G>C (p.Leu308=) | |
3 | g.14141621G>T | CA432552862 | TMEM43 | c.*1059G>T (n.*1059G>T) c.1029G>T (p.Leu343=) n.327+2324G>T c.236+2324G>T c.924G>T (p.Leu308=) | |
3 | g.14141622G>A | CA351536401 | TMEM43 | c.*1060G>A (n.*1060G>A) c.1030G>A (p.Val344Ile) n.327+2325G>A c.236+2325G>A c.925G>A (p.Val309Ile) | |
3 | g.14141622G>C | CA351536402 | TMEM43 | c.*1060G>C (n.*1060G>C) c.1030G>C (p.Val344Leu) n.327+2325G>C c.236+2325G>C c.925G>C (p.Val309Leu) | |
3 | g.14141622G>T | CA351536403 | TMEM43 | c.*1060G>T (n.*1060G>T) c.1030G>T (p.Val344Phe) n.327+2325G>T c.236+2325G>T c.925G>T (p.Val309Phe) | |
3 | g.14141623T>A | CA351536405 | TMEM43 | c.*1061T>A (n.*1061T>A) c.1031T>A (p.Val344Asp) n.327+2326T>A c.236+2326T>A c.926T>A (p.Val309Asp) | |
3 | g.14141623T>C | CA351536404 | TMEM43 | c.*1061T>C (n.*1061T>C) c.1031T>C (p.Val344Ala) n.327+2326T>C c.236+2326T>C c.926T>C (p.Val309Ala) | |
3 | g.14141623T>G | CA051010 | TMEM43 | c.*1061T>G (n.*1061T>G) c.1031T>G (p.Val344Gly) n.327+2326T>G c.236+2326T>G c.926T>G (p.Val309Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.14141623T= | CA1346973825 | TMEM43 | c.*1061T= (n.*1061T=) c.1031T= (p.Val344=) n.327+2326T= c.236+2326T= c.926T= (p.Val309=) | |
3 | g.14141624C>A | CA432552868 | TMEM43 | c.*1062C>A (n.*1062C>A) c.1032C>A (p.Val344=) n.327+2327C>A c.236+2327C>A c.927C>A (p.Val309=) | |
3 | g.14141624C>G | CA432552869 | TMEM43 | c.*1062C>G (n.*1062C>G) c.1032C>G (p.Val344=) n.327+2327C>G c.236+2327C>G c.927C>G (p.Val309=) | gnomAD v4 |
3 | g.14141624C>T | CA432552870 | TMEM43 | c.*1062C>T (n.*1062C>T) c.1032C>T (p.Val344=) n.327+2327C>T c.236+2327C>T c.927C>T (p.Val309=) | |
3 | g.14141625A= | CA1346973826 | TMEM43 | c.*1063A= (n.*1063A=) c.1033A= (p.Asn345=) n.327+2328A= c.236+2328A= c.928A= (p.Asn310=) | |
3 | g.14141625A>C | CA351536406 | TMEM43 | c.*1063A>C (n.*1063A>C) c.1033A>C (p.Asn345His) n.327+2328A>C c.236+2328A>C c.928A>C (p.Asn310His) | |
3 | g.14141625A>G | CA351536407 | TMEM43 | c.*1063A>G (n.*1063A>G) c.1033A>G (p.Asn345Asp) n.327+2328A>G c.236+2328A>G c.928A>G (p.Asn310Asp) | dbSNP gnomAD v4 |
3 | g.14141625A>T | CA351536408 | TMEM43 | c.*1063A>T (n.*1063A>T) c.1033A>T (p.Asn345Tyr) n.327+2328A>T c.236+2328A>T c.928A>T (p.Asn310Tyr) | |
3 | g.14141626A= | CA1346973827 | TMEM43 | c.*1064A= (n.*1064A=) c.1034A= (p.Asn345=) n.327+2329A= c.236+2329A= c.929A= (p.Asn310=) | |
3 | g.14141626A>C | CA051026 | TMEM43 | c.*1064A>C (n.*1064A>C) c.1034A>C (p.Asn345Thr) n.327+2329A>C c.236+2329A>C c.929A>C (p.Asn310Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.14141626A>G | CA051038 | TMEM43 | c.*1064A>G (n.*1064A>G) c.1034A>G (p.Asn345Ser) n.327+2329A>G c.236+2329A>G c.929A>G (p.Asn310Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.14141626A>T | CA351536409 | TMEM43 | c.*1064A>T (n.*1064A>T) c.1034A>T (p.Asn345Ile) n.327+2329A>T c.236+2329A>T c.929A>T (p.Asn310Ile) | |
3 | g.14141627C>A | CA351536410 | TMEM43 | c.*1065C>A (n.*1065C>A) c.1035C>A (p.Asn345Lys) n.327+2330C>A c.236+2330C>A c.930C>A (p.Asn310Lys) | |
3 | g.14141627C>G | CA351536411 | TMEM43 | c.*1065C>G (n.*1065C>G) c.1035C>G (p.Asn345Lys) n.327+2330C>G c.236+2330C>G c.930C>G (p.Asn310Lys) | gnomAD v4 |
3 | g.14141627C>T | CA432552875 | TMEM43 | c.*1065C>T (n.*1065C>T) c.1035C>T (p.Asn345=) n.327+2330C>T c.236+2330C>T c.930C>T (p.Asn310=) | |
3 | g.14141628A>C | CA351536412 | TMEM43 | c.*1066A>C (n.*1066A>C) c.1036A>C (p.Ile346Leu) n.327+2331A>C c.236+2331A>C c.931A>C (p.Ile311Leu) | |
3 | g.14141628A>G | CA351536413 | TMEM43 | c.*1066A>G (n.*1066A>G) c.1036A>G (p.Ile346Val) n.327+2331A>G c.236+2331A>G c.931A>G (p.Ile311Val) | ClinVar dbSNP |
3 | g.14141628A>T | CA351536414 | TMEM43 | c.*1066A>T (n.*1066A>T) c.1036A>T (p.Ile346Phe) n.327+2331A>T c.236+2331A>T c.931A>T (p.Ile311Phe) | |
3 | g.14141629T>A | CA351536416 | TMEM43 | c.*1067T>A (n.*1067T>A) c.1037T>A (p.Ile346Asn) n.327+2332T>A c.236+2332T>A c.932T>A (p.Ile311Asn) | |
3 | g.14141629T>C | CA351536417 | TMEM43 | c.*1067T>C (n.*1067T>C) c.1037T>C (p.Ile346Thr) n.327+2332T>C c.236+2332T>C c.932T>C (p.Ile311Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.14141629T>G | CA351536415 | TMEM43 | c.*1067T>G (n.*1067T>G) c.1037T>G (p.Ile346Ser) n.327+2332T>G c.236+2332T>G c.932T>G (p.Ile311Ser) | |
3 | g.14141629T= | CA1346973828 | TMEM43 | c.*1067T= (n.*1067T=) c.1037T= (p.Ile346=) n.327+2332T= c.236+2332T= c.932T= (p.Ile311=) | |
3 | g.14141630T>A | CA432552879 | TMEM43 | c.*1068T>A (n.*1068T>A) c.1038T>A (p.Ile346=) n.327+2333T>A c.236+2333T>A c.933T>A (p.Ile311=) | |
3 | g.14141630T>C | CA432552880 | TMEM43 | c.*1068T>C (n.*1068T>C) c.1038T>C (p.Ile346=) n.327+2333T>C c.236+2333T>C c.933T>C (p.Ile311=) | ClinVar dbSNP |
3 | g.14141630T>G | CA351536418 | TMEM43 | c.*1068T>G (n.*1068T>G) c.1038T>G (p.Ile346Met) n.327+2333T>G c.236+2333T>G c.933T>G (p.Ile311Met) | |
3 | g.14141630T= | CA1346973829 | TMEM43 | c.*1068T= (n.*1068T=) c.1038T= (p.Ile346=) n.327+2333T= c.236+2333T= c.933T= (p.Ile311=) | |
3 | g.14141631G>A | CA351536419 | TMEM43 | c.*1069G>A (n.*1069G>A) c.1039G>A (p.Gly347Ser) n.327+2334G>A c.236+2334G>A c.934G>A (p.Gly312Ser) | gnomAD v4 |
3 | g.14141631G>C | CA351536420 | TMEM43 | c.*1069G>C (n.*1069G>C) c.1039G>C (p.Gly347Arg) n.327+2334G>C c.236+2334G>C c.934G>C (p.Gly312Arg) | |
3 | g.14141631G= | CA1346973830 | TMEM43 | c.*1069G= (n.*1069G=) c.1039G= (p.Gly347=) n.327+2334G= c.236+2334G= c.934G= (p.Gly312=) | |
3 | g.14141631G>T | CA051047 | TMEM43 | c.*1069G>T (n.*1069G>T) c.1039G>T (p.Gly347Cys) n.327+2334G>T c.236+2334G>T c.934G>T (p.Gly312Cys) | dbSNP ExAC gnomAD v2 |
3 | g.14141632G>A | CA351536421 | TMEM43 | c.*1070G>A (n.*1070G>A) c.1040G>A (p.Gly347Asp) n.327+2335G>A c.236+2335G>A c.935G>A (p.Gly312Asp) | |
3 | g.14141632G>C | CA351536422 | TMEM43 | c.*1070G>C (n.*1070G>C) c.1040G>C (p.Gly347Ala) n.327+2335G>C c.236+2335G>C c.935G>C (p.Gly312Ala) | |
3 | g.14141632G>T | CA351536423 | TMEM43 | c.*1070G>T (n.*1070G>T) c.1040G>T (p.Gly347Val) n.327+2335G>T c.236+2335G>T c.935G>T (p.Gly312Val) | |
3 | g.14141633C>A | CA432552886 | TMEM43 | c.*1071C>A (n.*1071C>A) c.1041C>A (p.Gly347=) n.327+2336C>A c.236+2336C>A c.936C>A (p.Gly312=) | |
3 | g.14141633C= | CA1346973831 | TMEM43 | c.*1071C= (n.*1071C=) c.1041C= (p.Gly347=) n.327+2336C= c.236+2336C= c.936C= (p.Gly312=) | |
3 | g.14141633C>G | CA432552884 | TMEM43 | c.*1071C>G (n.*1071C>G) c.1041C>G (p.Gly347=) n.327+2336C>G c.236+2336C>G c.936C>G (p.Gly312=) | |
3 | g.14141633C>T | CA432552885 | TMEM43 | c.*1071C>T (n.*1071C>T) c.1041C>T (p.Gly347=) n.327+2336C>T c.236+2336C>T c.936C>T (p.Gly312=) | ClinVar dbSNP |
3 | g.14141634C>A | CA351536424 | TMEM43 | c.*1072C>A (n.*1072C>A) c.1042C>A (p.Leu348Met) n.327+2337C>A c.236+2337C>A c.937C>A (p.Leu313Met) | |
3 | g.14141634C= | CA1346973832 | TMEM43 | c.*1072C= (n.*1072C=) c.1042C= (p.Leu348=) n.327+2337C= c.236+2337C= c.937C= (p.Leu313=) | |
3 | g.14141634C>G | CA051056 | TMEM43 | c.*1072C>G (n.*1072C>G) c.1042C>G (p.Leu348Val) n.327+2337C>G c.236+2337C>G c.937C>G (p.Leu313Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14141634C>T | CA432552887 | TMEM43 | c.*1072C>T (n.*1072C>T) c.1042C>T (p.Leu348=) n.327+2337C>T c.236+2337C>T c.937C>T (p.Leu313=) | |
3 | g.14141635T>A | CA351536425 | TMEM43 | c.*1073T>A (n.*1073T>A) c.1043T>A (p.Leu348Gln) n.327+2338T>A c.236+2338T>A c.938T>A (p.Leu313Gln) | |
3 | g.14141635T>C | CA351536426 | TMEM43 | c.*1073T>C (n.*1073T>C) c.1043T>C (p.Leu348Pro) n.327+2338T>C c.236+2338T>C c.938T>C (p.Leu313Pro) | |
3 | g.14141635T>G | CA351536427 | TMEM43 | c.*1073T>G (n.*1073T>G) c.1043T>G (p.Leu348Arg) n.327+2338T>G c.236+2338T>G c.938T>G (p.Leu313Arg) | |
3 | g.14141636G>A | CA432552891 | TMEM43 | c.*1074G>A (n.*1074G>A) c.1044G>A (p.Leu348=) n.327+2339G>A c.236+2339G>A c.939G>A (p.Leu313=) | |
3 | g.14141636G>C | CA432552892 | TMEM43 | c.*1074G>C (n.*1074G>C) c.1044G>C (p.Leu348=) n.327+2339G>C c.236+2339G>C c.939G>C (p.Leu313=) | |
3 | g.14141636G>T | CA432552893 | TMEM43 | c.*1074G>T (n.*1074G>T) c.1044G>T (p.Leu348=) n.327+2339G>T c.236+2339G>T c.939G>T (p.Leu313=) | |
3 | g.14141637A>C | CA351536429 | TMEM43 | c.*1075A>C (n.*1075A>C) c.1045A>C (p.Lys349Gln) n.327+2340A>C c.236+2340A>C c.940A>C (p.Lys314Gln) | |
3 | g.14141637A>G | CA351536430 | TMEM43 | c.*1075A>G (n.*1075A>G) c.1045A>G (p.Lys349Glu) n.327+2340A>G c.236+2340A>G c.940A>G (p.Lys314Glu) | |
3 | g.14141637A>T | CA351536428 | TMEM43 | c.*1075A>T (n.*1075A>T) c.1045A>T (p.Lys349Ter) n.327+2340A>T c.236+2340A>T c.940A>T (p.Lys314Ter) | |
3 | g.14141638A>C | CA351536431 | TMEM43 | c.*1076A>C (n.*1076A>C) c.1046A>C (p.Lys349Thr) n.327+2341A>C c.236+2341A>C c.941A>C (p.Lys314Thr) | |
3 | g.14141638A>G | CA351536432 | TMEM43 | c.*1076A>G (n.*1076A>G) c.1046A>G (p.Lys349Arg) n.327+2341A>G c.236+2341A>G c.941A>G (p.Lys314Arg) | |
3 | g.14141638A>T | CA351536433 | TMEM43 | c.*1076A>T (n.*1076A>T) c.1046A>T (p.Lys349Ile) n.327+2341A>T c.236+2341A>T c.941A>T (p.Lys314Ile) | |
3 | g.14141639A>C | CA351536434 | TMEM43 | c.*1077A>C (n.*1077A>C) c.1047A>C (p.Lys349Asn) n.327+2342A>C c.236+2342A>C c.942A>C (p.Lys314Asn) | gnomAD v4 |
3 | g.14141639A>G | CA432552900 | TMEM43 | c.*1077A>G (n.*1077A>G) c.1047A>G (p.Lys349=) n.327+2342A>G c.236+2342A>G c.942A>G (p.Lys314=) | |
3 | g.14141639A>T | CA351536435 | TMEM43 | c.*1077A>T (n.*1077A>T) c.1047A>T (p.Lys349Asn) n.327+2342A>T c.236+2342A>T c.942A>T (p.Lys314Asn) | |
3 | g.14141640G>A | CA351536438 | TMEM43 | c.*1078G>A (n.*1078G>A) c.1048G>A (p.Ala350Thr) n.327+2343G>A c.236+2343G>A c.943G>A (p.Ala315Thr) | |
3 | g.14141640G>C | CA351536436 | TMEM43 | c.*1078G>C (n.*1078G>C) c.1048G>C (p.Ala350Pro) n.327+2343G>C c.236+2343G>C c.943G>C (p.Ala315Pro) | |
3 | g.14141640G>T | CA351536437 | TMEM43 | c.*1078G>T (n.*1078G>T) c.1048G>T (p.Ala350Ser) n.327+2343G>T c.236+2343G>T c.943G>T (p.Ala315Ser) | gnomAD v4 |
3 | g.14141641C>A | CA351536439 | TMEM43 | c.*1079C>A (n.*1079C>A) c.1049C>A (p.Ala350Asp) n.327+2344C>A c.236+2344C>A c.944C>A (p.Ala315Asp) | |
3 | g.14141641C>G | CA351536440 | TMEM43 | c.*1079C>G (n.*1079C>G) c.1049C>G (p.Ala350Gly) n.327+2344C>G c.236+2344C>G c.944C>G (p.Ala315Gly) | |
3 | g.14141641C>T | CA351536441 | TMEM43 | c.*1079C>T (n.*1079C>T) c.1049C>T (p.Ala350Val) n.327+2344C>T c.236+2344C>T c.944C>T (p.Ala315Val) | |
3 | g.14141642C>A | CA432552905 | TMEM43 | c.*1080C>A (n.*1080C>A) c.1050C>A (p.Ala350=) n.327+2345C>A c.236+2345C>A c.945C>A (p.Ala315=) | |
3 | g.14141642C= | CA1346973833 | TMEM43 | c.*1080C= (n.*1080C=) c.1050C= (p.Ala350=) n.327+2345C= c.236+2345C= c.945C= (p.Ala315=) | |
3 | g.14141642C>G | CA432552908 | TMEM43 | c.*1080C>G (n.*1080C>G) c.1050C>G (p.Ala350=) n.327+2345C>G c.236+2345C>G c.945C>G (p.Ala315=) | ClinVar |
3 | g.14141642C>T | CA432552909 | TMEM43 | c.*1080C>T (n.*1080C>T) c.1050C>T (p.Ala350=) n.327+2345C>T c.236+2345C>T c.945C>T (p.Ala315=) | ClinVar dbSNP gnomAD v4 |
3 | g.14141643T>A | CA351536442 | TMEM43 | c.*1081T>A (n.*1081T>A) c.1051T>A (p.Phe351Ile) n.327+2346T>A c.236+2346T>A c.946T>A (p.Phe316Ile) | |
3 | g.14141643T>C | CA351536443 | TMEM43 | c.*1081T>C (n.*1081T>C) c.1051T>C (p.Phe351Leu) n.327+2346T>C c.236+2346T>C c.946T>C (p.Phe316Leu) | |
3 | g.14141643T>G | CA351536444 | TMEM43 | c.*1081T>G (n.*1081T>G) c.1051T>G (p.Phe351Val) n.327+2346T>G c.236+2346T>G c.946T>G (p.Phe316Val) | |
3 | g.14141644T>A | CA351536446 | TMEM43 | c.*1082T>A (n.*1082T>A) c.1052T>A (p.Phe351Tyr) n.327+2347T>A c.236+2347T>A c.947T>A (p.Phe316Tyr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.14141644T>C | CA351536447 | TMEM43 | c.*1082T>C (n.*1082T>C) c.1052T>C (p.Phe351Ser) n.327+2347T>C c.236+2347T>C c.947T>C (p.Phe316Ser) | dbSNP gnomAD v4 |
3 | g.14141644T>G | CA351536445 | TMEM43 | c.*1082T>G (n.*1082T>G) c.1052T>G (p.Phe351Cys) n.327+2347T>G c.236+2347T>G c.947T>G (p.Phe316Cys) | |
3 | g.14141644T= | CA1346973834 | TMEM43 | c.*1082T= (n.*1082T=) c.1052T= (p.Phe351=) n.327+2347T= c.236+2347T= c.947T= (p.Phe316=) | |
3 | g.14141645T>A | CA351536449 | TMEM43 | c.*1083T>A (n.*1083T>A) c.1053T>A (p.Phe351Leu) n.327+2348T>A c.236+2348T>A c.948T>A (p.Phe316Leu) | |
3 | g.14141645T>C | CA432552919 | TMEM43 | c.*1083T>C (n.*1083T>C) c.1053T>C (p.Phe351=) n.327+2348T>C c.236+2348T>C c.948T>C (p.Phe316=) | |
3 | g.14141645T>G | CA351536448 | TMEM43 | c.*1083T>G (n.*1083T>G) c.1053T>G (p.Phe351Leu) n.327+2348T>G c.236+2348T>G c.948T>G (p.Phe316Leu) | |
3 | g.14141646G>A | CA351536451 | TMEM43 | c.*1084G>A (n.*1084G>A) c.1054G>A (p.Ala352Thr) n.327+2349G>A c.236+2349G>A c.949G>A (p.Ala317Thr) | |
3 | g.14141646G>C | CA351536450 | TMEM43 | c.*1084G>C (n.*1084G>C) c.1054G>C (p.Ala352Pro) n.327+2349G>C c.236+2349G>C c.949G>C (p.Ala317Pro) | |
3 | g.14141646G>T | CA351536452 | TMEM43 | c.*1084G>T (n.*1084G>T) c.1054G>T (p.Ala352Ser) n.327+2349G>T c.236+2349G>T c.949G>T (p.Ala317Ser) | |
3 | g.14141647C>A | CA351536453 | TMEM43 | c.*1085C>A (n.*1085C>A) c.1055C>A (p.Ala352Asp) n.327+2350C>A c.236+2350C>A c.950C>A (p.Ala317Asp) | |
3 | g.14141647C>G | CA351536454 | TMEM43 | c.*1085C>G (n.*1085C>G) c.1055C>G (p.Ala352Gly) n.327+2350C>G c.236+2350C>G c.950C>G (p.Ala317Gly) | |
3 | g.14141647C>T | CA351536455 | TMEM43 | c.*1085C>T (n.*1085C>T) c.1055C>T (p.Ala352Val) n.327+2350C>T c.236+2350C>T c.950C>T (p.Ala317Val) | |
3 | g.14141648C>A | CA432552923 | TMEM43 | c.*1086C>A (n.*1086C>A) c.1056C>A (p.Ala352=) n.327+2351C>A c.236+2351C>A c.951C>A (p.Ala317=) | |
3 | g.14141648C= | CA1346973835 | TMEM43 | c.*1086C= (n.*1086C=) c.1056C= (p.Ala352=) n.327+2351C= c.236+2351C= c.951C= (p.Ala317=) | |
3 | g.14141648C>G | CA432552924 | TMEM43 | c.*1086C>G (n.*1086C>G) c.1056C>G (p.Ala352=) n.327+2351C>G c.236+2351C>G c.951C>G (p.Ala317=) | |
3 | g.14141648C>T | CA051069 | TMEM43 | c.*1086C>T (n.*1086C>T) c.1056C>T (p.Ala352=) n.327+2351C>T c.236+2351C>T c.951C>T (p.Ala317=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.14141649T>A | CA351536456 | TMEM43 | c.*1087T>A (n.*1087T>A) c.1057T>A (p.Phe353Ile) n.327+2352T>A c.236+2352T>A c.952T>A (p.Phe318Ile) | |
3 | g.14141649T>C | CA351536457 | TMEM43 | c.*1087T>C (n.*1087T>C) c.1057T>C (p.Phe353Leu) n.327+2352T>C c.236+2352T>C c.952T>C (p.Phe318Leu) | |
3 | g.14141649T>G | CA351536458 | TMEM43 | c.*1087T>G (n.*1087T>G) c.1057T>G (p.Phe353Val) n.327+2352T>G c.236+2352T>G c.952T>G (p.Phe318Val) | |
3 | g.14141649_14141652del | CA2664571094 | TMEM43 | c.*1087_*1090del (n.*1087_*1090del) c.1057_1060del (p.Phe353ValfsTer6) n.327+2352_327+2355del c.236+2352_236+2355del c.952_955del (p.Phe318ValfsTer6) | gnomAD v4 |
3 | g.14141650T>A | CA351536459 | TMEM43 | c.*1088T>A (n.*1088T>A) c.1058T>A (p.Phe353Tyr) n.327+2353T>A c.236+2353T>A c.953T>A (p.Phe318Tyr) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.14141650T>C | CA69738133 | TMEM43 | c.*1088T>C (n.*1088T>C) c.1058T>C (p.Phe353Ser) n.327+2353T>C c.236+2353T>C c.953T>C (p.Phe318Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14141650T>G | CA351536460 | TMEM43 | c.*1088T>G (n.*1088T>G) c.1058T>G (p.Phe353Cys) n.327+2353T>G c.236+2353T>G c.953T>G (p.Phe318Cys) | |
3 | g.14141650T= | CA1346973836 | TMEM43 | c.*1088T= (n.*1088T=) c.1058T= (p.Phe353=) n.327+2353T= c.236+2353T= c.953T= (p.Phe318=) | |
3 | g.14141651C>A | CA351536461 | TMEM43 | c.*1089C>A (n.*1089C>A) c.1059C>A (p.Phe353Leu) n.327+2354C>A c.236+2354C>A c.954C>A (p.Phe318Leu) | dbSNP |
3 | g.14141651C= | CA1346973837 | TMEM43 | c.*1089C= (n.*1089C=) c.1059C= (p.Phe353=) n.327+2354C= c.236+2354C= c.954C= (p.Phe318=) | |
3 | g.14141651C>G | CA024565 | TMEM43 | c.*1089C>G (n.*1089C>G) c.1059C>G (p.Phe353Leu) n.327+2354C>G c.236+2354C>G c.954C>G (p.Phe318Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14141651C>T | CA432552931 | TMEM43 | c.*1089C>T (n.*1089C>T) c.1059C>T (p.Phe353=) n.327+2354C>T c.236+2354C>T c.954C>T (p.Phe318=) | |
3 | g.14141652T>A | CA351536464 | TMEM43 | c.*1090T>A (n.*1090T>A) c.1060T>A (p.Cys354Ser) n.327+2355T>A c.236+2355T>A c.955T>A (p.Cys319Ser) | |
3 | g.14141652T>C | CA351536462 | TMEM43 | c.*1090T>C (n.*1090T>C) c.1060T>C (p.Cys354Arg) n.327+2355T>C c.236+2355T>C c.955T>C (p.Cys319Arg) | |
3 | g.14141652T>G | CA351536463 | TMEM43 | c.*1090T>G (n.*1090T>G) c.1060T>G (p.Cys354Gly) n.327+2355T>G c.236+2355T>G c.955T>G (p.Cys319Gly) | |
3 | g.14141653G>A | CA10615418 | TMEM43 | c.*1091G>A (n.*1091G>A) c.1061G>A (p.Cys354Tyr) n.327+2356G>A c.236+2356G>A c.956G>A (p.Cys319Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.14141653G>C | CA051095 | TMEM43 | c.*1091G>C (n.*1091G>C) c.1061G>C (p.Cys354Ser) n.327+2356G>C c.236+2356G>C c.956G>C (p.Cys319Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14141653G= | CA1346973838 | TMEM43 | c.*1091G= (n.*1091G=) c.1061G= (p.Cys354=) n.327+2356G= c.236+2356G= c.956G= (p.Cys319=) | |
3 | g.14141653G>T | CA051109 | TMEM43 | c.*1091G>T (n.*1091G>T) c.1061G>T (p.Cys354Phe) n.327+2356G>T c.236+2356G>T c.956G>T (p.Cys319Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14141654T>A | CA351536465 | TMEM43 | c.*1092T>A (n.*1092T>A) c.1062T>A (p.Cys354Ter) n.327+2357T>A c.236+2357T>A c.957T>A (p.Cys319Ter) | |
3 | g.14141654T>C | CA432552937 | TMEM43 | c.*1092T>C (n.*1092T>C) c.1062T>C (p.Cys354=) n.327+2357T>C c.236+2357T>C c.957T>C (p.Cys319=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.14141654T>G | CA351536466 | TMEM43 | c.*1092T>G (n.*1092T>G) c.1062T>G (p.Cys354Trp) n.327+2357T>G c.236+2357T>G c.957T>G (p.Cys319Trp) | |
3 | g.14141654T= | CA1346973839 | TMEM43 | c.*1092T= (n.*1092T=) c.1062T= (p.Cys354=) n.327+2357T= c.236+2357T= c.957T= (p.Cys319=) | |
3 | g.14141655G>A | CA351536467 | TMEM43 | c.*1093G>A (n.*1093G>A) c.1063G>A (p.Val355Met) n.327+2358G>A c.236+2358G>A c.958G>A (p.Val320Met) | |
3 | g.14141655G>C | CA351536468 | TMEM43 | c.*1093G>C (n.*1093G>C) c.1063G>C (p.Val355Leu) n.327+2358G>C c.236+2358G>C c.958G>C (p.Val320Leu) | |
3 | g.14141655G>T | CA351536469 | TMEM43 | c.*1093G>T (n.*1093G>T) c.1063G>T (p.Val355Leu) n.327+2358G>T c.236+2358G>T c.958G>T (p.Val320Leu) | |
3 | g.14141656T>A | CA351536470 | TMEM43 | c.*1094T>A (n.*1094T>A) c.1064T>A (p.Val355Glu) n.327+2359T>A c.236+2359T>A c.959T>A (p.Val320Glu) | |
3 | g.14141656T>C | CA351536471 | TMEM43 | c.*1094T>C (n.*1094T>C) c.1064T>C (p.Val355Ala) n.327+2359T>C c.236+2359T>C c.959T>C (p.Val320Ala) | |
3 | g.14141656T>G | CA351536472 | TMEM43 | c.*1094T>G (n.*1094T>G) c.1064T>G (p.Val355Gly) n.327+2359T>G c.236+2359T>G c.959T>G (p.Val320Gly) | |
3 | g.14141657G>A | CA432552946 | TMEM43 | c.*1095G>A (n.*1095G>A) c.1065G>A (p.Val355=) n.327+2360G>A c.236+2360G>A c.960G>A (p.Val320=) | |
3 | g.14141657G>C | CA432552947 | TMEM43 | c.*1095G>C (n.*1095G>C) c.1065G>C (p.Val355=) n.327+2360G>C c.236+2360G>C c.960G>C (p.Val320=) | |
3 | g.14141657G>T | CA432552948 | TMEM43 | c.*1095G>T (n.*1095G>T) c.1065G>T (p.Val355=) n.327+2360G>T c.236+2360G>T c.960G>T (p.Val320=) | |
3 | g.14141658G>A | CA351536474 | TMEM43 | c.*1096G>A (n.*1096G>A) c.1066G>A (p.Ala356Thr) n.327+2361G>A c.236+2361G>A c.961G>A (p.Ala321Thr) | |
3 | g.14141658G>C | CA351536475 | TMEM43 | c.*1096G>C (n.*1096G>C) c.1066G>C (p.Ala356Pro) n.327+2361G>C c.236+2361G>C c.961G>C (p.Ala321Pro) | |
3 | g.14141658G>T | CA351536473 | TMEM43 | c.*1096G>T (n.*1096G>T) c.1066G>T (p.Ala356Ser) n.327+2361G>T c.236+2361G>T c.961G>T (p.Ala321Ser) | |
3 | g.14141659C>A | CA351536476 | TMEM43 | c.*1097C>A (n.*1097C>A) c.1067C>A (p.Ala356Asp) n.327+2362C>A c.236+2362C>A c.962C>A (p.Ala321Asp) | |
3 | g.14141659C= | CA1346973840 | TMEM43 | c.*1097C= (n.*1097C=) c.1067C= (p.Ala356=) n.327+2362C= c.236+2362C= c.962C= (p.Ala321=) | |
3 | g.14141659C>G | CA351536477 | TMEM43 | c.*1097C>G (n.*1097C>G) c.1067C>G (p.Ala356Gly) n.327+2362C>G c.236+2362C>G c.962C>G (p.Ala321Gly) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.14141659C>T | CA351536478 | TMEM43 | c.*1097C>T (n.*1097C>T) c.1067C>T (p.Ala356Val) n.327+2362C>T c.236+2362C>T c.962C>T (p.Ala321Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.14141660C>A | CA432552951 | TMEM43 | c.*1098C>A (n.*1098C>A) c.1068C>A (p.Ala356=) n.327+2363C>A c.236+2363C>A c.963C>A (p.Ala321=) | |
3 | g.14141660C= | CA1346973841 | TMEM43 | c.*1098C= (n.*1098C=) c.1068C= (p.Ala356=) n.327+2363C= c.236+2363C= c.963C= (p.Ala321=) | |
3 | g.14141660C>G | CA432552952 | TMEM43 | c.*1098C>G (n.*1098C>G) c.1068C>G (p.Ala356=) n.327+2363C>G c.236+2363C>G c.963C>G (p.Ala321=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14141660C>T | CA432552953 | TMEM43 | c.*1098C>T (n.*1098C>T) c.1068C>T (p.Ala356=) n.327+2363C>T c.236+2363C>T c.963C>T (p.Ala321=) | ClinVar gnomAD v4 |
3 | g.14141661A= | CA1346973842 | TMEM43 | c.*1099A= (n.*1099A=) c.1069A= (p.Thr357=) n.327+2364A= c.236+2364A= c.964A= (p.Thr322=) | |
3 | g.14141661A>C | CA351536479 | TMEM43 | c.*1099A>C (n.*1099A>C) c.1069A>C (p.Thr357Pro) n.327+2364A>C c.236+2364A>C c.964A>C (p.Thr322Pro) | dbSNP |
3 | g.14141661A>G | CA351536480 | TMEM43 | c.*1099A>G (n.*1099A>G) c.1069A>G (p.Thr357Ala) n.327+2364A>G c.236+2364A>G c.964A>G (p.Thr322Ala) | |
3 | g.14141661A>T | CA351536481 | TMEM43 | c.*1099A>T (n.*1099A>T) c.1069A>T (p.Thr357Ser) n.327+2364A>T c.236+2364A>T c.964A>T (p.Thr322Ser) | |
3 | g.14141662C>A | CA351536482 | TMEM43 | c.*1100C>A (n.*1100C>A) c.1070C>A (p.Thr357Asn) n.327+2365C>A c.236+2365C>A c.965C>A (p.Thr322Asn) | |
3 | g.14141662C>G | CA351536483 | TMEM43 | c.*1100C>G (n.*1100C>G) c.1070C>G (p.Thr357Ser) n.327+2365C>G c.236+2365C>G c.965C>G (p.Thr322Ser) | |
3 | g.14141662C>T | CA351536484 | TMEM43 | c.*1100C>T (n.*1100C>T) c.1070C>T (p.Thr357Ile) n.327+2365C>T c.236+2365C>T c.965C>T (p.Thr322Ile) | COSMIC |
3 | g.14141663C>A | CA432552959 | TMEM43 | c.*1101C>A (n.*1101C>A) c.1071C>A (p.Thr357=) n.327+2366C>A c.236+2366C>A c.966C>A (p.Thr322=) | |
3 | g.14141663C>G | CA432552961 | TMEM43 | c.*1101C>G (n.*1101C>G) c.1071C>G (p.Thr357=) n.327+2366C>G c.236+2366C>G c.966C>G (p.Thr322=) | |
3 | g.14141663C>T | CA432552962 | TMEM43 | c.*1101C>T (n.*1101C>T) c.1071C>T (p.Thr357=) n.327+2366C>T c.236+2366C>T c.966C>T (p.Thr322=) | |
3 | g.14141664T>A | CA351536485 | TMEM43 | c.*1102T>A (n.*1102T>A) c.1072T>A (p.Ser358Thr) n.327+2367T>A c.236+2367T>A c.967T>A (p.Ser323Thr) | |
3 | g.14141664T>C | CA351536486 | TMEM43 | c.*1102T>C (n.*1102T>C) c.1072T>C (p.Ser358Pro) n.327+2367T>C c.236+2367T>C c.967T>C (p.Ser323Pro) | ClinVar dbSNP gnomAD v4 |
3 | g.14141664T>G | CA351536487 | TMEM43 | c.*1102T>G (n.*1102T>G) c.1072T>G (p.Ser358Ala) n.327+2367T>G c.236+2367T>G c.967T>G (p.Ser323Ala) | |
3 | g.14141664T= | CA1346973843 | TMEM43 | c.*1102T= (n.*1102T=) c.1072T= (p.Ser358=) n.327+2367T= c.236+2367T= c.967T= (p.Ser323=) | |
3 | g.14141665C>A | CA351536488 | TMEM43 | c.*1103C>A (n.*1103C>A) c.1073C>A (p.Ser358Ter) n.327+2368C>A c.236+2368C>A c.968C>A (p.Ser323Ter) | |
3 | g.14141665C= | CA1346973844 | TMEM43 | c.*1103C= (n.*1103C=) c.1073C= (p.Ser358=) n.327+2368C= c.236+2368C= c.968C= (p.Ser323=) | |
3 | g.14141665C>G | CA351536489 | TMEM43 | c.*1103C>G (n.*1103C>G) c.1073C>G (p.Ser358Trp) n.327+2368C>G c.236+2368C>G c.968C>G (p.Ser323Trp) | |
3 | g.14141665C>T | CA024568 | TMEM43 | c.*1103C>T (n.*1103C>T) c.1073C>T (p.Ser358Leu) n.327+2368C>T c.236+2368C>T c.968C>T (p.Ser323Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.14141666G>A | CA051118 | TMEM43 | c.*1104G>A (n.*1104G>A) c.1074G>A (p.Ser358=) n.327+2369G>A c.236+2369G>A c.969G>A (p.Ser323=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14141666G>C | CA432552966 | TMEM43 | c.*1104G>C (n.*1104G>C) c.1074G>C (p.Ser358=) n.327+2369G>C c.236+2369G>C c.969G>C (p.Ser323=) | |
3 | g.14141666G= | CA1346973845 | TMEM43 | c.*1104G= (n.*1104G=) c.1074G= (p.Ser358=) n.327+2369G= c.236+2369G= c.969G= (p.Ser323=) | |
3 | g.14141666G>T | CA432552967 | TMEM43 | c.*1104G>T (n.*1104G>T) c.1074G>T (p.Ser358=) n.327+2369G>T c.236+2369G>T c.969G>T (p.Ser323=) | |
3 | g.14141667C>A | CA351536490 | TMEM43 | c.*1105C>A (n.*1105C>A) c.1075C>A (p.Leu359Met) n.327+2370C>A c.236+2370C>A c.970C>A (p.Leu324Met) | |
3 | g.14141667C= | CA1346973846 | TMEM43 | c.*1105C= (n.*1105C=) c.1075C= (p.Leu359=) n.327+2370C= c.236+2370C= c.970C= (p.Leu324=) | |
3 | g.14141667C>G | CA351536491 | TMEM43 | c.*1105C>G (n.*1105C>G) c.1075C>G (p.Leu359Val) n.327+2370C>G c.236+2370C>G c.970C>G (p.Leu324Val) | |
3 | g.14141667C>T | CA051129 | TMEM43 | c.*1105C>T (n.*1105C>T) c.1075C>T (p.Leu359=) n.327+2370C>T c.236+2370C>T c.970C>T (p.Leu324=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |