Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.14141572_14141583delinsTCACCTTTCTCCCA1346973805TMEM43c.*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)
3g.14141573_14141583delCA1045265438TMEM43c.*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
3g.14141575_14141583delCA2755301344TMEM43c.*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)
3g.14141575_14141584delCA1045265444TMEM43c.*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
3g.14141578T>CCA2577516635TMEM43c.*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)
3g.14141578_14141579insAAAAAACA2664571088TMEM43c.*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
3g.14141579_14141588delCA2664571089TMEM43c.*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
3g.14141581_14141586delCA2664571090TMEM43c.*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
3g.14141582C=CA1346973807TMEM43c.*1031-11C= (n.*1031-11C=)
c.1001-11C= (n.1001-11C=)
n.327+2285C=
c.236+2285C=
c.896-11C= (n.896-11C=)
3g.14141582C>GCA2664571091TMEM43c.*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
3g.14141582C>TCA050890TMEM43c.*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
3g.14141583C=CA1346973808TMEM43c.*1031-10C= (n.*1031-10C=)
c.1001-10C= (n.1001-10C=)
n.327+2286C=
c.236+2286C=
c.896-10C= (n.896-10C=)
3g.14141583C>TCA1346973809TMEM43c.*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
3g.14141584T=CA1346973810TMEM43c.*1031-9T= (n.*1031-9T=)
c.1001-9T= (n.1001-9T=)
n.327+2287T=
c.236+2287T=
c.896-9T= (n.896-9T=)
3g.14141584_14141585insAAAAAACA1045265445TMEM43c.*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
3g.14141586T>CCA050927TMEM43c.*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
3g.14141586T=CA1346973811TMEM43c.*1031-7T= (n.*1031-7T=)
c.1001-7T= (n.1001-7T=)
n.327+2289T=
c.236+2289T=
c.896-7T= (n.896-7T=)
3g.14141586_14141587insAAAACA2755301345TMEM43c.*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)
3g.14141587C>GCA2664571092TMEM43c.*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
3g.14141587C>TCA2499216524TMEM43c.*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
3g.14141587_14141588insAAAACA2755301346TMEM43c.*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)
3g.14141588C>ACA2755301347TMEM43c.*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)
3g.14141589A=CA1346973812TMEM43c.*1031-4A= (n.*1031-4A=)
c.1001-4A= (n.1001-4A=)
n.327+2292A=
c.236+2292A=
c.896-4A= (n.896-4A=)
3g.14141589A>GCA2573136054TMEM43c.*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
3g.14141589A>TCA69738087TMEM43c.*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
3g.14141590C=CA1346973813TMEM43c.*1031-3C= (n.*1031-3C=)
c.1001-3C= (n.1001-3C=)
n.327+2293C=
c.236+2293C=
c.896-3C= (n.896-3C=)
3g.14141590C>TCA658683300TMEM43c.*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
3g.14141591A>CCA351536335TMEM43c.*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)
3g.14141591A>GCA351536336TMEM43c.*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
3g.14141591A>TCA351536337TMEM43c.*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)
3g.14141592G>ACA351536338TMEM43c.*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)
3g.14141592G>CCA351536339TMEM43c.*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)
3g.14141592G>TCA351536340TMEM43c.*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)
3g.14141593T>ACA351536341TMEM43c.*1031T>A (n.*1031T>A)
c.1001T>A (p.Val334Glu)
n.327+2296T>A
c.236+2296T>A
c.896T>A (p.Val299Glu)
3g.14141593T>CCA351536342TMEM43c.*1031T>C (n.*1031T>C)
c.1001T>C (p.Val334Ala)
n.327+2296T>C
c.236+2296T>C
c.896T>C (p.Val299Ala)
3g.14141593T>GCA351536343TMEM43c.*1031T>G (n.*1031T>G)
c.1001T>G (p.Val334Gly)
n.327+2296T>G
c.236+2296T>G
c.896T>G (p.Val299Gly)
3g.14141593dupCA2697550692TMEM43c.*1031dup (n.*1031dup)
c.1001dup (p.Asp335GlyfsTer?)
n.327+2296dup
c.236+2296dup
c.896dup (p.Asp300GlyfsTer?)
 ClinVar
3g.14141596_14141600delCA2664571093TMEM43c.*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
3g.14141594G>ACA432552804TMEM43c.*1032G>A (n.*1032G>A)
c.1002G>A (p.Val334=)
n.327+2297G>A
c.236+2297G>A
c.897G>A (p.Val299=)
 dbSNP
3g.14141594G>CCA432552805TMEM43c.*1032G>C (n.*1032G>C)
c.1002G>C (p.Val334=)
n.327+2297G>C
c.236+2297G>C
c.897G>C (p.Val299=)
3g.14141594G=CA1346973814TMEM43c.*1032G= (n.*1032G=)
c.1002G= (p.Val334=)
n.327+2297G=
c.236+2297G=
c.897G= (p.Val299=)
3g.14141594G>TCA432552806TMEM43c.*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
3g.14141595G>ACA351536344TMEM43c.*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
3g.14141595G>CCA351536345TMEM43c.*1033G>C (n.*1033G>C)
c.1003G>C (p.Asp335His)
n.327+2298G>C
c.236+2298G>C
c.898G>C (p.Asp300His)
3g.14141595G>TCA351536346TMEM43c.*1033G>T (n.*1033G>T)
c.1003G>T (p.Asp335Tyr)
n.327+2298G>T
c.236+2298G>T
c.898G>T (p.Asp300Tyr)
3g.14141596A=CA1346973815TMEM43c.*1034A= (n.*1034A=)
c.1004A= (p.Asp335=)
n.327+2299A=
c.236+2299A=
c.899A= (p.Asp300=)
3g.14141596A>CCA351536347TMEM43c.*1034A>C (n.*1034A>C)
c.1004A>C (p.Asp335Ala)
n.327+2299A>C
c.236+2299A>C
c.899A>C (p.Asp300Ala)
3g.14141596A>GCA351536349TMEM43c.*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
3g.14141596A>TCA351536348TMEM43c.*1034A>T (n.*1034A>T)
c.1004A>T (p.Asp335Val)
n.327+2299A>T
c.236+2299A>T
c.899A>T (p.Asp300Val)
3g.14141597C>ACA351536350TMEM43c.*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
3g.14141597C>GCA351536351TMEM43c.*1035C>G (n.*1035C>G)
c.1005C>G (p.Asp335Glu)
n.327+2300C>G
c.236+2300C>G
c.900C>G (p.Asp300Glu)
3g.14141597C>TCA432552809TMEM43c.*1035C>T (n.*1035C>T)
c.1005C>T (p.Asp335=)
n.327+2300C>T
c.236+2300C>T
c.900C>T (p.Asp300=)
3g.14141598T>ACA351536352TMEM43c.*1036T>A (n.*1036T>A)
c.1006T>A (p.Trp336Arg)
n.327+2301T>A
c.236+2301T>A
c.901T>A (p.Trp301Arg)
3g.14141598T>CCA351536353TMEM43c.*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
3g.14141598T>GCA351536354TMEM43c.*1036T>G (n.*1036T>G)
c.1006T>G (p.Trp336Gly)
n.327+2301T>G
c.236+2301T>G
c.901T>G (p.Trp301Gly)
3g.14141598T=CA1346973816TMEM43c.*1036T= (n.*1036T=)
c.1006T= (p.Trp336=)
n.327+2301T=
c.236+2301T=
c.901T= (p.Trp301=)
3g.14141599G>ACA351536355TMEM43c.*1037G>A (n.*1037G>A)
c.1007G>A (p.Trp336Ter)
n.327+2302G>A
c.236+2302G>A
c.902G>A (p.Trp301Ter)
3g.14141599G>CCA351536356TMEM43c.*1037G>C (n.*1037G>C)
c.1007G>C (p.Trp336Ser)
n.327+2302G>C
c.236+2302G>C
c.902G>C (p.Trp301Ser)
3g.14141599G>TCA351536357TMEM43c.*1037G>T (n.*1037G>T)
c.1007G>T (p.Trp336Leu)
n.327+2302G>T
c.236+2302G>T
c.902G>T (p.Trp301Leu)
3g.14141600G>ACA351536358TMEM43c.*1038G>A (n.*1038G>A)
c.1008G>A (p.Trp336Ter)
n.327+2303G>A
c.236+2303G>A
c.903G>A (p.Trp301Ter)
3g.14141600G>CCA351536359TMEM43c.*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
3g.14141600G>TCA351536360TMEM43c.*1038G>T (n.*1038G>T)
c.1008G>T (p.Trp336Cys)
n.327+2303G>T
c.236+2303G>T
c.903G>T (p.Trp301Cys)
3g.14141601T>ACA351536363TMEM43c.*1039T>A (n.*1039T>A)
c.1009T>A (p.Phe337Ile)
n.327+2304T>A
c.236+2304T>A
c.904T>A (p.Phe302Ile)
3g.14141601T>CCA351536362TMEM43c.*1039T>C (n.*1039T>C)
c.1009T>C (p.Phe337Leu)
n.327+2304T>C
c.236+2304T>C
c.904T>C (p.Phe302Leu)
3g.14141601T>GCA351536361TMEM43c.*1039T>G (n.*1039T>G)
c.1009T>G (p.Phe337Val)
n.327+2304T>G
c.236+2304T>G
c.904T>G (p.Phe302Val)
3g.14141602T>ACA050933TMEM43c.*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
3g.14141602T>CCA351536364TMEM43c.*1040T>C (n.*1040T>C)
c.1010T>C (p.Phe337Ser)
n.327+2305T>C
c.236+2305T>C
c.905T>C (p.Phe302Ser)
3g.14141602T>GCA351536365TMEM43c.*1040T>G (n.*1040T>G)
c.1010T>G (p.Phe337Cys)
n.327+2305T>G
c.236+2305T>G
c.905T>G (p.Phe302Cys)
3g.14141602T=CA1346973817TMEM43c.*1040T= (n.*1040T=)
c.1010T= (p.Phe337=)
n.327+2305T=
c.236+2305T=
c.905T= (p.Phe302=)
3g.14141603T>ACA351536366TMEM43c.*1041T>A (n.*1041T>A)
c.1011T>A (p.Phe337Leu)
n.327+2306T>A
c.236+2306T>A
c.906T>A (p.Phe302Leu)
3g.14141603T>CCA432552820TMEM43c.*1041T>C (n.*1041T>C)
c.1011T>C (p.Phe337=)
n.327+2306T>C
c.236+2306T>C
c.906T>C (p.Phe302=)
3g.14141603T>GCA351536367TMEM43c.*1041T>G (n.*1041T>G)
c.1011T>G (p.Phe337Leu)
n.327+2306T>G
c.236+2306T>G
c.906T>G (p.Phe302Leu)
3g.14141604C>ACA351536368TMEM43c.*1042C>A (n.*1042C>A)
c.1012C>A (p.Pro338Thr)
n.327+2307C>A
c.236+2307C>A
c.907C>A (p.Pro303Thr)
3g.14141604C>GCA351536369TMEM43c.*1042C>G (n.*1042C>G)
c.1012C>G (p.Pro338Ala)
n.327+2307C>G
c.236+2307C>G
c.907C>G (p.Pro303Ala)
3g.14141604C>TCA351536370TMEM43c.*1042C>T (n.*1042C>T)
c.1012C>T (p.Pro338Ser)
n.327+2307C>T
c.236+2307C>T
c.907C>T (p.Pro303Ser)
3g.14141605C>ACA351536371TMEM43c.*1043C>A (n.*1043C>A)
c.1013C>A (p.Pro338His)
n.327+2308C>A
c.236+2308C>A
c.908C>A (p.Pro303His)
3g.14141605C=CA1346973818TMEM43c.*1043C= (n.*1043C=)
c.1013C= (p.Pro338=)
n.327+2308C=
c.236+2308C=
c.908C= (p.Pro303=)
3g.14141605C>GCA351536372TMEM43c.*1043C>G (n.*1043C>G)
c.1013C>G (p.Pro338Arg)
n.327+2308C>G
c.236+2308C>G
c.908C>G (p.Pro303Arg)
3g.14141605C>TCA050947TMEM43c.*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
3g.14141606T>ACA432552823TMEM43c.*1044T>A (n.*1044T>A)
c.1014T>A (p.Pro338=)
n.327+2309T>A
c.236+2309T>A
c.909T>A (p.Pro303=)
3g.14141606T>CCA432552824TMEM43c.*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
3g.14141606T>GCA432552825TMEM43c.*1044T>G (n.*1044T>G)
c.1014T>G (p.Pro338=)
n.327+2309T>G
c.236+2309T>G
c.909T>G (p.Pro303=)
3g.14141607_14141608dupCA913188067TMEM43c.*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
3g.14141607G>ACA351536373TMEM43c.*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
3g.14141607G>CCA351536374TMEM43c.*1045G>C (n.*1045G>C)
c.1015G>C (p.Val339Leu)
n.327+2310G>C
c.236+2310G>C
c.910G>C (p.Val304Leu)
3g.14141607G=CA1346973819TMEM43c.*1045G= (n.*1045G=)
c.1015G= (p.Val339=)
n.327+2310G=
c.236+2310G=
c.910G= (p.Val304=)
3g.14141607G>TCA351536375TMEM43c.*1045G>T (n.*1045G>T)
c.1015G>T (p.Val339Phe)
n.327+2310G>T
c.236+2310G>T
c.910G>T (p.Val304Phe)
3g.14141608T>ACA351536378TMEM43c.*1046T>A (n.*1046T>A)
c.1016T>A (p.Val339Asp)
n.327+2311T>A
c.236+2311T>A
c.911T>A (p.Val304Asp)
3g.14141608T>CCA351536376TMEM43c.*1046T>C (n.*1046T>C)
c.1016T>C (p.Val339Ala)
n.327+2311T>C
c.236+2311T>C
c.911T>C (p.Val304Ala)
3g.14141608T>GCA351536377TMEM43c.*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
3g.14141609T>ACA432552826TMEM43c.*1047T>A (n.*1047T>A)
c.1017T>A (p.Val339=)
n.327+2312T>A
c.236+2312T>A
c.912T>A (p.Val304=)
3g.14141609T>CCA432552827TMEM43c.*1047T>C (n.*1047T>C)
c.1017T>C (p.Val339=)
n.327+2312T>C
c.236+2312T>C
c.912T>C (p.Val304=)
3g.14141609T>GCA432552828TMEM43c.*1047T>G (n.*1047T>G)
c.1017T>G (p.Val339=)
n.327+2312T>G
c.236+2312T>G
c.912T>G (p.Val304=)
3g.14141610T>ACA351536379TMEM43c.*1048T>A (n.*1048T>A)
c.1018T>A (p.Phe340Ile)
n.327+2313T>A
c.236+2313T>A
c.913T>A (p.Phe305Ile)
3g.14141610T>CCA351536380TMEM43c.*1048T>C (n.*1048T>C)
c.1018T>C (p.Phe340Leu)
n.327+2313T>C
c.236+2313T>C
c.913T>C (p.Phe305Leu)
3g.14141610T>GCA351536381TMEM43c.*1048T>G (n.*1048T>G)
c.1018T>G (p.Phe340Val)
n.327+2313T>G
c.236+2313T>G
c.913T>G (p.Phe305Val)
3g.14141611T>ACA351536382TMEM43c.*1049T>A (n.*1049T>A)
c.1019T>A (p.Phe340Tyr)
n.327+2314T>A
c.236+2314T>A
c.914T>A (p.Phe305Tyr)
3g.14141611T>CCA351536383TMEM43c.*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
3g.14141611T>GCA351536384TMEM43c.*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
3g.14141611T=CA1346973820TMEM43c.*1049T= (n.*1049T=)
c.1019T= (p.Phe340=)
n.327+2314T=
c.236+2314T=
c.914T= (p.Phe305=)
3g.14141612C>ACA351536385TMEM43c.*1050C>A (n.*1050C>A)
c.1020C>A (p.Phe340Leu)
n.327+2315C>A
c.236+2315C>A
c.915C>A (p.Phe305Leu)
3g.14141612C>GCA351536386TMEM43c.*1050C>G (n.*1050C>G)
c.1020C>G (p.Phe340Leu)
n.327+2315C>G
c.236+2315C>G
c.915C>G (p.Phe305Leu)
3g.14141612C>TCA432552837TMEM43c.*1050C>T (n.*1050C>T)
c.1020C>T (p.Phe340=)
n.327+2315C>T
c.236+2315C>T
c.915C>T (p.Phe305=)
3g.14141613C>ACA432552839TMEM43c.*1051C>A (n.*1051C>A)
c.1021C>A (p.Arg341=)
n.327+2316C>A
c.236+2316C>A
c.916C>A (p.Arg306=)
 dbSNP
3g.14141613C=CA1346973821TMEM43c.*1051C= (n.*1051C=)
c.1021C= (p.Arg341=)
n.327+2316C=
c.236+2316C=
c.916C= (p.Arg306=)
3g.14141613C>GCA351536387TMEM43c.*1051C>G (n.*1051C>G)
c.1021C>G (p.Arg341Gly)
n.327+2316C>G
c.236+2316C>G
c.916C>G (p.Arg306Gly)
3g.14141613C>TCA050959TMEM43c.*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
3g.14141614G>ACA050968TMEM43c.*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
3g.14141614G>CCA351536388TMEM43c.*1052G>C (n.*1052G>C)
c.1022G>C (p.Arg341Pro)
n.327+2317G>C
c.236+2317G>C
c.917G>C (p.Arg306Pro)
3g.14141614G=CA1346973822TMEM43c.*1052G= (n.*1052G=)
c.1022G= (p.Arg341=)
n.327+2317G=
c.236+2317G=
c.917G= (p.Arg306=)
3g.14141614G>TCA351536389TMEM43c.*1052G>T (n.*1052G>T)
c.1022G>T (p.Arg341Leu)
n.327+2317G>T
c.236+2317G>T
c.917G>T (p.Arg306Leu)
3g.14141615A>CCA432552847TMEM43c.*1053A>C (n.*1053A>C)
c.1023A>C (p.Arg341=)
n.327+2318A>C
c.236+2318A>C
c.918A>C (p.Arg306=)
3g.14141615A>GCA432552849TMEM43c.*1053A>G (n.*1053A>G)
c.1023A>G (p.Arg341=)
n.327+2318A>G
c.236+2318A>G
c.918A>G (p.Arg306=)
3g.14141615A>TCA432552850TMEM43c.*1053A>T (n.*1053A>T)
c.1023A>T (p.Arg341=)
n.327+2318A>T
c.236+2318A>T
c.918A>T (p.Arg306=)
3g.14141616G>ACA351536391TMEM43c.*1054G>A (n.*1054G>A)
c.1024G>A (p.Asp342Asn)
n.327+2319G>A
c.236+2319G>A
c.919G>A (p.Asp307Asn)
3g.14141616G>CCA351536392TMEM43c.*1054G>C (n.*1054G>C)
c.1024G>C (p.Asp342His)
n.327+2319G>C
c.236+2319G>C
c.919G>C (p.Asp307His)
3g.14141616G>TCA351536390TMEM43c.*1054G>T (n.*1054G>T)
c.1024G>T (p.Asp342Tyr)
n.327+2319G>T
c.236+2319G>T
c.919G>T (p.Asp307Tyr)
3g.14141617A>CCA351536393TMEM43c.*1055A>C (n.*1055A>C)
c.1025A>C (p.Asp342Ala)
n.327+2320A>C
c.236+2320A>C
c.920A>C (p.Asp307Ala)
3g.14141617A>GCA351536395TMEM43c.*1055A>G (n.*1055A>G)
c.1025A>G (p.Asp342Gly)
n.327+2320A>G
c.236+2320A>G
c.920A>G (p.Asp307Gly)
3g.14141617A>TCA351536394TMEM43c.*1055A>T (n.*1055A>T)
c.1025A>T (p.Asp342Val)
n.327+2320A>T
c.236+2320A>T
c.920A>T (p.Asp307Val)
3g.14141618C>ACA050984TMEM43c.*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
3g.14141618C=CA1346973823TMEM43c.*1056C= (n.*1056C=)
c.1026C= (p.Asp342=)
n.327+2321C=
c.236+2321C=
c.921C= (p.Asp307=)
3g.14141618C>GCA351536396TMEM43c.*1056C>G (n.*1056C>G)
c.1026C>G (p.Asp342Glu)
n.327+2321C>G
c.236+2321C>G
c.921C>G (p.Asp307Glu)
3g.14141618C>TCA432552855TMEM43c.*1056C>T (n.*1056C>T)
c.1026C>T (p.Asp342=)
n.327+2321C>T
c.236+2321C>T
c.921C>T (p.Asp307=)
3g.14141619C>ACA351536397TMEM43c.*1057C>A (n.*1057C>A)
c.1027C>A (p.Leu343Met)
n.327+2322C>A
c.236+2322C>A
c.922C>A (p.Leu308Met)
3g.14141619C>GCA351536398TMEM43c.*1057C>G (n.*1057C>G)
c.1027C>G (p.Leu343Val)
n.327+2322C>G
c.236+2322C>G
c.922C>G (p.Leu308Val)
3g.14141619C>TCA432552858TMEM43c.*1057C>T (n.*1057C>T)
c.1027C>T (p.Leu343=)
n.327+2322C>T
c.236+2322C>T
c.922C>T (p.Leu308=)
3g.14141620T>ACA351536399TMEM43c.*1058T>A (n.*1058T>A)
c.1028T>A (p.Leu343Gln)
n.327+2323T>A
c.236+2323T>A
c.923T>A (p.Leu308Gln)
 ClinVar
3g.14141620T>CCA050996TMEM43c.*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
3g.14141620T>GCA351536400TMEM43c.*1058T>G (n.*1058T>G)
c.1028T>G (p.Leu343Arg)
n.327+2323T>G
c.236+2323T>G
c.923T>G (p.Leu308Arg)
3g.14141620T=CA1346973824TMEM43c.*1058T= (n.*1058T=)
c.1028T= (p.Leu343=)
n.327+2323T=
c.236+2323T=
c.923T= (p.Leu308=)
3g.14141621G>ACA432552859TMEM43c.*1059G>A (n.*1059G>A)
c.1029G>A (p.Leu343=)
n.327+2324G>A
c.236+2324G>A
c.924G>A (p.Leu308=)
3g.14141621G>CCA432552861TMEM43c.*1059G>C (n.*1059G>C)
c.1029G>C (p.Leu343=)
n.327+2324G>C
c.236+2324G>C
c.924G>C (p.Leu308=)
3g.14141621G>TCA432552862TMEM43c.*1059G>T (n.*1059G>T)
c.1029G>T (p.Leu343=)
n.327+2324G>T
c.236+2324G>T
c.924G>T (p.Leu308=)
3g.14141622G>ACA351536401TMEM43c.*1060G>A (n.*1060G>A)
c.1030G>A (p.Val344Ile)
n.327+2325G>A
c.236+2325G>A
c.925G>A (p.Val309Ile)
3g.14141622G>CCA351536402TMEM43c.*1060G>C (n.*1060G>C)
c.1030G>C (p.Val344Leu)
n.327+2325G>C
c.236+2325G>C
c.925G>C (p.Val309Leu)
3g.14141622G>TCA351536403TMEM43c.*1060G>T (n.*1060G>T)
c.1030G>T (p.Val344Phe)
n.327+2325G>T
c.236+2325G>T
c.925G>T (p.Val309Phe)
3g.14141623T>ACA351536405TMEM43c.*1061T>A (n.*1061T>A)
c.1031T>A (p.Val344Asp)
n.327+2326T>A
c.236+2326T>A
c.926T>A (p.Val309Asp)
3g.14141623T>CCA351536404TMEM43c.*1061T>C (n.*1061T>C)
c.1031T>C (p.Val344Ala)
n.327+2326T>C
c.236+2326T>C
c.926T>C (p.Val309Ala)
3g.14141623T>GCA051010TMEM43c.*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
3g.14141623T=CA1346973825TMEM43c.*1061T= (n.*1061T=)
c.1031T= (p.Val344=)
n.327+2326T=
c.236+2326T=
c.926T= (p.Val309=)
3g.14141624C>ACA432552868TMEM43c.*1062C>A (n.*1062C>A)
c.1032C>A (p.Val344=)
n.327+2327C>A
c.236+2327C>A
c.927C>A (p.Val309=)
3g.14141624C>GCA432552869TMEM43c.*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
3g.14141624C>TCA432552870TMEM43c.*1062C>T (n.*1062C>T)
c.1032C>T (p.Val344=)
n.327+2327C>T
c.236+2327C>T
c.927C>T (p.Val309=)
3g.14141625A=CA1346973826TMEM43c.*1063A= (n.*1063A=)
c.1033A= (p.Asn345=)
n.327+2328A=
c.236+2328A=
c.928A= (p.Asn310=)
3g.14141625A>CCA351536406TMEM43c.*1063A>C (n.*1063A>C)
c.1033A>C (p.Asn345His)
n.327+2328A>C
c.236+2328A>C
c.928A>C (p.Asn310His)
3g.14141625A>GCA351536407TMEM43c.*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
3g.14141625A>TCA351536408TMEM43c.*1063A>T (n.*1063A>T)
c.1033A>T (p.Asn345Tyr)
n.327+2328A>T
c.236+2328A>T
c.928A>T (p.Asn310Tyr)
3g.14141626A=CA1346973827TMEM43c.*1064A= (n.*1064A=)
c.1034A= (p.Asn345=)
n.327+2329A=
c.236+2329A=
c.929A= (p.Asn310=)
3g.14141626A>CCA051026TMEM43c.*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
3g.14141626A>GCA051038TMEM43c.*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
3g.14141626A>TCA351536409TMEM43c.*1064A>T (n.*1064A>T)
c.1034A>T (p.Asn345Ile)
n.327+2329A>T
c.236+2329A>T
c.929A>T (p.Asn310Ile)
3g.14141627C>ACA351536410TMEM43c.*1065C>A (n.*1065C>A)
c.1035C>A (p.Asn345Lys)
n.327+2330C>A
c.236+2330C>A
c.930C>A (p.Asn310Lys)
3g.14141627C>GCA351536411TMEM43c.*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
3g.14141627C>TCA432552875TMEM43c.*1065C>T (n.*1065C>T)
c.1035C>T (p.Asn345=)
n.327+2330C>T
c.236+2330C>T
c.930C>T (p.Asn310=)
3g.14141628A>CCA351536412TMEM43c.*1066A>C (n.*1066A>C)
c.1036A>C (p.Ile346Leu)
n.327+2331A>C
c.236+2331A>C
c.931A>C (p.Ile311Leu)
3g.14141628A>GCA351536413TMEM43c.*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
3g.14141628A>TCA351536414TMEM43c.*1066A>T (n.*1066A>T)
c.1036A>T (p.Ile346Phe)
n.327+2331A>T
c.236+2331A>T
c.931A>T (p.Ile311Phe)
3g.14141629T>ACA351536416TMEM43c.*1067T>A (n.*1067T>A)
c.1037T>A (p.Ile346Asn)
n.327+2332T>A
c.236+2332T>A
c.932T>A (p.Ile311Asn)
3g.14141629T>CCA351536417TMEM43c.*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
3g.14141629T>GCA351536415TMEM43c.*1067T>G (n.*1067T>G)
c.1037T>G (p.Ile346Ser)
n.327+2332T>G
c.236+2332T>G
c.932T>G (p.Ile311Ser)
3g.14141629T=CA1346973828TMEM43c.*1067T= (n.*1067T=)
c.1037T= (p.Ile346=)
n.327+2332T=
c.236+2332T=
c.932T= (p.Ile311=)
3g.14141630T>ACA432552879TMEM43c.*1068T>A (n.*1068T>A)
c.1038T>A (p.Ile346=)
n.327+2333T>A
c.236+2333T>A
c.933T>A (p.Ile311=)
3g.14141630T>CCA432552880TMEM43c.*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
3g.14141630T>GCA351536418TMEM43c.*1068T>G (n.*1068T>G)
c.1038T>G (p.Ile346Met)
n.327+2333T>G
c.236+2333T>G
c.933T>G (p.Ile311Met)
3g.14141630T=CA1346973829TMEM43c.*1068T= (n.*1068T=)
c.1038T= (p.Ile346=)
n.327+2333T=
c.236+2333T=
c.933T= (p.Ile311=)
3g.14141631G>ACA351536419TMEM43c.*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
3g.14141631G>CCA351536420TMEM43c.*1069G>C (n.*1069G>C)
c.1039G>C (p.Gly347Arg)
n.327+2334G>C
c.236+2334G>C
c.934G>C (p.Gly312Arg)
3g.14141631G=CA1346973830TMEM43c.*1069G= (n.*1069G=)
c.1039G= (p.Gly347=)
n.327+2334G=
c.236+2334G=
c.934G= (p.Gly312=)
3g.14141631G>TCA051047TMEM43c.*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
3g.14141632G>ACA351536421TMEM43c.*1070G>A (n.*1070G>A)
c.1040G>A (p.Gly347Asp)
n.327+2335G>A
c.236+2335G>A
c.935G>A (p.Gly312Asp)
3g.14141632G>CCA351536422TMEM43c.*1070G>C (n.*1070G>C)
c.1040G>C (p.Gly347Ala)
n.327+2335G>C
c.236+2335G>C
c.935G>C (p.Gly312Ala)
3g.14141632G>TCA351536423TMEM43c.*1070G>T (n.*1070G>T)
c.1040G>T (p.Gly347Val)
n.327+2335G>T
c.236+2335G>T
c.935G>T (p.Gly312Val)
3g.14141633C>ACA432552886TMEM43c.*1071C>A (n.*1071C>A)
c.1041C>A (p.Gly347=)
n.327+2336C>A
c.236+2336C>A
c.936C>A (p.Gly312=)
3g.14141633C=CA1346973831TMEM43c.*1071C= (n.*1071C=)
c.1041C= (p.Gly347=)
n.327+2336C=
c.236+2336C=
c.936C= (p.Gly312=)
3g.14141633C>GCA432552884TMEM43c.*1071C>G (n.*1071C>G)
c.1041C>G (p.Gly347=)
n.327+2336C>G
c.236+2336C>G
c.936C>G (p.Gly312=)
3g.14141633C>TCA432552885TMEM43c.*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
3g.14141634C>ACA351536424TMEM43c.*1072C>A (n.*1072C>A)
c.1042C>A (p.Leu348Met)
n.327+2337C>A
c.236+2337C>A
c.937C>A (p.Leu313Met)
3g.14141634C=CA1346973832TMEM43c.*1072C= (n.*1072C=)
c.1042C= (p.Leu348=)
n.327+2337C=
c.236+2337C=
c.937C= (p.Leu313=)
3g.14141634C>GCA051056TMEM43c.*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
3g.14141634C>TCA432552887TMEM43c.*1072C>T (n.*1072C>T)
c.1042C>T (p.Leu348=)
n.327+2337C>T
c.236+2337C>T
c.937C>T (p.Leu313=)
3g.14141635T>ACA351536425TMEM43c.*1073T>A (n.*1073T>A)
c.1043T>A (p.Leu348Gln)
n.327+2338T>A
c.236+2338T>A
c.938T>A (p.Leu313Gln)
3g.14141635T>CCA351536426TMEM43c.*1073T>C (n.*1073T>C)
c.1043T>C (p.Leu348Pro)
n.327+2338T>C
c.236+2338T>C
c.938T>C (p.Leu313Pro)
3g.14141635T>GCA351536427TMEM43c.*1073T>G (n.*1073T>G)
c.1043T>G (p.Leu348Arg)
n.327+2338T>G
c.236+2338T>G
c.938T>G (p.Leu313Arg)
3g.14141636G>ACA432552891TMEM43c.*1074G>A (n.*1074G>A)
c.1044G>A (p.Leu348=)
n.327+2339G>A
c.236+2339G>A
c.939G>A (p.Leu313=)
3g.14141636G>CCA432552892TMEM43c.*1074G>C (n.*1074G>C)
c.1044G>C (p.Leu348=)
n.327+2339G>C
c.236+2339G>C
c.939G>C (p.Leu313=)
3g.14141636G>TCA432552893TMEM43c.*1074G>T (n.*1074G>T)
c.1044G>T (p.Leu348=)
n.327+2339G>T
c.236+2339G>T
c.939G>T (p.Leu313=)
3g.14141637A>CCA351536429TMEM43c.*1075A>C (n.*1075A>C)
c.1045A>C (p.Lys349Gln)
n.327+2340A>C
c.236+2340A>C
c.940A>C (p.Lys314Gln)
3g.14141637A>GCA351536430TMEM43c.*1075A>G (n.*1075A>G)
c.1045A>G (p.Lys349Glu)
n.327+2340A>G
c.236+2340A>G
c.940A>G (p.Lys314Glu)
3g.14141637A>TCA351536428TMEM43c.*1075A>T (n.*1075A>T)
c.1045A>T (p.Lys349Ter)
n.327+2340A>T
c.236+2340A>T
c.940A>T (p.Lys314Ter)
3g.14141638A>CCA351536431TMEM43c.*1076A>C (n.*1076A>C)
c.1046A>C (p.Lys349Thr)
n.327+2341A>C
c.236+2341A>C
c.941A>C (p.Lys314Thr)
3g.14141638A>GCA351536432TMEM43c.*1076A>G (n.*1076A>G)
c.1046A>G (p.Lys349Arg)
n.327+2341A>G
c.236+2341A>G
c.941A>G (p.Lys314Arg)
3g.14141638A>TCA351536433TMEM43c.*1076A>T (n.*1076A>T)
c.1046A>T (p.Lys349Ile)
n.327+2341A>T
c.236+2341A>T
c.941A>T (p.Lys314Ile)
3g.14141639A>CCA351536434TMEM43c.*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
3g.14141639A>GCA432552900TMEM43c.*1077A>G (n.*1077A>G)
c.1047A>G (p.Lys349=)
n.327+2342A>G
c.236+2342A>G
c.942A>G (p.Lys314=)
3g.14141639A>TCA351536435TMEM43c.*1077A>T (n.*1077A>T)
c.1047A>T (p.Lys349Asn)
n.327+2342A>T
c.236+2342A>T
c.942A>T (p.Lys314Asn)
3g.14141640G>ACA351536438TMEM43c.*1078G>A (n.*1078G>A)
c.1048G>A (p.Ala350Thr)
n.327+2343G>A
c.236+2343G>A
c.943G>A (p.Ala315Thr)
3g.14141640G>CCA351536436TMEM43c.*1078G>C (n.*1078G>C)
c.1048G>C (p.Ala350Pro)
n.327+2343G>C
c.236+2343G>C
c.943G>C (p.Ala315Pro)
3g.14141640G>TCA351536437TMEM43c.*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
3g.14141641C>ACA351536439TMEM43c.*1079C>A (n.*1079C>A)
c.1049C>A (p.Ala350Asp)
n.327+2344C>A
c.236+2344C>A
c.944C>A (p.Ala315Asp)
3g.14141641C>GCA351536440TMEM43c.*1079C>G (n.*1079C>G)
c.1049C>G (p.Ala350Gly)
n.327+2344C>G
c.236+2344C>G
c.944C>G (p.Ala315Gly)
3g.14141641C>TCA351536441TMEM43c.*1079C>T (n.*1079C>T)
c.1049C>T (p.Ala350Val)
n.327+2344C>T
c.236+2344C>T
c.944C>T (p.Ala315Val)
3g.14141642C>ACA432552905TMEM43c.*1080C>A (n.*1080C>A)
c.1050C>A (p.Ala350=)
n.327+2345C>A
c.236+2345C>A
c.945C>A (p.Ala315=)
3g.14141642C=CA1346973833TMEM43c.*1080C= (n.*1080C=)
c.1050C= (p.Ala350=)
n.327+2345C=
c.236+2345C=
c.945C= (p.Ala315=)
3g.14141642C>GCA432552908TMEM43c.*1080C>G (n.*1080C>G)
c.1050C>G (p.Ala350=)
n.327+2345C>G
c.236+2345C>G
c.945C>G (p.Ala315=)
 ClinVar
3g.14141642C>TCA432552909TMEM43c.*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
3g.14141643T>ACA351536442TMEM43c.*1081T>A (n.*1081T>A)
c.1051T>A (p.Phe351Ile)
n.327+2346T>A
c.236+2346T>A
c.946T>A (p.Phe316Ile)
3g.14141643T>CCA351536443TMEM43c.*1081T>C (n.*1081T>C)
c.1051T>C (p.Phe351Leu)
n.327+2346T>C
c.236+2346T>C
c.946T>C (p.Phe316Leu)
3g.14141643T>GCA351536444TMEM43c.*1081T>G (n.*1081T>G)
c.1051T>G (p.Phe351Val)
n.327+2346T>G
c.236+2346T>G
c.946T>G (p.Phe316Val)
3g.14141644T>ACA351536446TMEM43c.*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
3g.14141644T>CCA351536447TMEM43c.*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
3g.14141644T>GCA351536445TMEM43c.*1082T>G (n.*1082T>G)
c.1052T>G (p.Phe351Cys)
n.327+2347T>G
c.236+2347T>G
c.947T>G (p.Phe316Cys)
3g.14141644T=CA1346973834TMEM43c.*1082T= (n.*1082T=)
c.1052T= (p.Phe351=)
n.327+2347T=
c.236+2347T=
c.947T= (p.Phe316=)
3g.14141645T>ACA351536449TMEM43c.*1083T>A (n.*1083T>A)
c.1053T>A (p.Phe351Leu)
n.327+2348T>A
c.236+2348T>A
c.948T>A (p.Phe316Leu)
3g.14141645T>CCA432552919TMEM43c.*1083T>C (n.*1083T>C)
c.1053T>C (p.Phe351=)
n.327+2348T>C
c.236+2348T>C
c.948T>C (p.Phe316=)
3g.14141645T>GCA351536448TMEM43c.*1083T>G (n.*1083T>G)
c.1053T>G (p.Phe351Leu)
n.327+2348T>G
c.236+2348T>G
c.948T>G (p.Phe316Leu)
3g.14141646G>ACA351536451TMEM43c.*1084G>A (n.*1084G>A)
c.1054G>A (p.Ala352Thr)
n.327+2349G>A
c.236+2349G>A
c.949G>A (p.Ala317Thr)
3g.14141646G>CCA351536450TMEM43c.*1084G>C (n.*1084G>C)
c.1054G>C (p.Ala352Pro)
n.327+2349G>C
c.236+2349G>C
c.949G>C (p.Ala317Pro)
3g.14141646G>TCA351536452TMEM43c.*1084G>T (n.*1084G>T)
c.1054G>T (p.Ala352Ser)
n.327+2349G>T
c.236+2349G>T
c.949G>T (p.Ala317Ser)
3g.14141647C>ACA351536453TMEM43c.*1085C>A (n.*1085C>A)
c.1055C>A (p.Ala352Asp)
n.327+2350C>A
c.236+2350C>A
c.950C>A (p.Ala317Asp)
3g.14141647C>GCA351536454TMEM43c.*1085C>G (n.*1085C>G)
c.1055C>G (p.Ala352Gly)
n.327+2350C>G
c.236+2350C>G
c.950C>G (p.Ala317Gly)
3g.14141647C>TCA351536455TMEM43c.*1085C>T (n.*1085C>T)
c.1055C>T (p.Ala352Val)
n.327+2350C>T
c.236+2350C>T
c.950C>T (p.Ala317Val)
3g.14141648C>ACA432552923TMEM43c.*1086C>A (n.*1086C>A)
c.1056C>A (p.Ala352=)
n.327+2351C>A
c.236+2351C>A
c.951C>A (p.Ala317=)
3g.14141648C=CA1346973835TMEM43c.*1086C= (n.*1086C=)
c.1056C= (p.Ala352=)
n.327+2351C=
c.236+2351C=
c.951C= (p.Ala317=)
3g.14141648C>GCA432552924TMEM43c.*1086C>G (n.*1086C>G)
c.1056C>G (p.Ala352=)
n.327+2351C>G
c.236+2351C>G
c.951C>G (p.Ala317=)
3g.14141648C>TCA051069TMEM43c.*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
3g.14141649T>ACA351536456TMEM43c.*1087T>A (n.*1087T>A)
c.1057T>A (p.Phe353Ile)
n.327+2352T>A
c.236+2352T>A
c.952T>A (p.Phe318Ile)
3g.14141649T>CCA351536457TMEM43c.*1087T>C (n.*1087T>C)
c.1057T>C (p.Phe353Leu)
n.327+2352T>C
c.236+2352T>C
c.952T>C (p.Phe318Leu)
3g.14141649T>GCA351536458TMEM43c.*1087T>G (n.*1087T>G)
c.1057T>G (p.Phe353Val)
n.327+2352T>G
c.236+2352T>G
c.952T>G (p.Phe318Val)
3g.14141649_14141652delCA2664571094TMEM43c.*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
3g.14141650T>ACA351536459TMEM43c.*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
3g.14141650T>CCA69738133TMEM43c.*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
3g.14141650T>GCA351536460TMEM43c.*1088T>G (n.*1088T>G)
c.1058T>G (p.Phe353Cys)
n.327+2353T>G
c.236+2353T>G
c.953T>G (p.Phe318Cys)
3g.14141650T=CA1346973836TMEM43c.*1088T= (n.*1088T=)
c.1058T= (p.Phe353=)
n.327+2353T=
c.236+2353T=
c.953T= (p.Phe318=)
3g.14141651C>ACA351536461TMEM43c.*1089C>A (n.*1089C>A)
c.1059C>A (p.Phe353Leu)
n.327+2354C>A
c.236+2354C>A
c.954C>A (p.Phe318Leu)
 dbSNP
3g.14141651C=CA1346973837TMEM43c.*1089C= (n.*1089C=)
c.1059C= (p.Phe353=)
n.327+2354C=
c.236+2354C=
c.954C= (p.Phe318=)
3g.14141651C>GCA024565TMEM43c.*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
3g.14141651C>TCA432552931TMEM43c.*1089C>T (n.*1089C>T)
c.1059C>T (p.Phe353=)
n.327+2354C>T
c.236+2354C>T
c.954C>T (p.Phe318=)
3g.14141652T>ACA351536464TMEM43c.*1090T>A (n.*1090T>A)
c.1060T>A (p.Cys354Ser)
n.327+2355T>A
c.236+2355T>A
c.955T>A (p.Cys319Ser)
3g.14141652T>CCA351536462TMEM43c.*1090T>C (n.*1090T>C)
c.1060T>C (p.Cys354Arg)
n.327+2355T>C
c.236+2355T>C
c.955T>C (p.Cys319Arg)
3g.14141652T>GCA351536463TMEM43c.*1090T>G (n.*1090T>G)
c.1060T>G (p.Cys354Gly)
n.327+2355T>G
c.236+2355T>G
c.955T>G (p.Cys319Gly)
3g.14141653G>ACA10615418TMEM43c.*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
3g.14141653G>CCA051095TMEM43c.*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
3g.14141653G=CA1346973838TMEM43c.*1091G= (n.*1091G=)
c.1061G= (p.Cys354=)
n.327+2356G=
c.236+2356G=
c.956G= (p.Cys319=)
3g.14141653G>TCA051109TMEM43c.*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
3g.14141654T>ACA351536465TMEM43c.*1092T>A (n.*1092T>A)
c.1062T>A (p.Cys354Ter)
n.327+2357T>A
c.236+2357T>A
c.957T>A (p.Cys319Ter)
3g.14141654T>CCA432552937TMEM43c.*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
3g.14141654T>GCA351536466TMEM43c.*1092T>G (n.*1092T>G)
c.1062T>G (p.Cys354Trp)
n.327+2357T>G
c.236+2357T>G
c.957T>G (p.Cys319Trp)
3g.14141654T=CA1346973839TMEM43c.*1092T= (n.*1092T=)
c.1062T= (p.Cys354=)
n.327+2357T=
c.236+2357T=
c.957T= (p.Cys319=)
3g.14141655G>ACA351536467TMEM43c.*1093G>A (n.*1093G>A)
c.1063G>A (p.Val355Met)
n.327+2358G>A
c.236+2358G>A
c.958G>A (p.Val320Met)
3g.14141655G>CCA351536468TMEM43c.*1093G>C (n.*1093G>C)
c.1063G>C (p.Val355Leu)
n.327+2358G>C
c.236+2358G>C
c.958G>C (p.Val320Leu)
3g.14141655G>TCA351536469TMEM43c.*1093G>T (n.*1093G>T)
c.1063G>T (p.Val355Leu)
n.327+2358G>T
c.236+2358G>T
c.958G>T (p.Val320Leu)
3g.14141656T>ACA351536470TMEM43c.*1094T>A (n.*1094T>A)
c.1064T>A (p.Val355Glu)
n.327+2359T>A
c.236+2359T>A
c.959T>A (p.Val320Glu)
3g.14141656T>CCA351536471TMEM43c.*1094T>C (n.*1094T>C)
c.1064T>C (p.Val355Ala)
n.327+2359T>C
c.236+2359T>C
c.959T>C (p.Val320Ala)
3g.14141656T>GCA351536472TMEM43c.*1094T>G (n.*1094T>G)
c.1064T>G (p.Val355Gly)
n.327+2359T>G
c.236+2359T>G
c.959T>G (p.Val320Gly)
3g.14141657G>ACA432552946TMEM43c.*1095G>A (n.*1095G>A)
c.1065G>A (p.Val355=)
n.327+2360G>A
c.236+2360G>A
c.960G>A (p.Val320=)
3g.14141657G>CCA432552947TMEM43c.*1095G>C (n.*1095G>C)
c.1065G>C (p.Val355=)
n.327+2360G>C
c.236+2360G>C
c.960G>C (p.Val320=)
3g.14141657G>TCA432552948TMEM43c.*1095G>T (n.*1095G>T)
c.1065G>T (p.Val355=)
n.327+2360G>T
c.236+2360G>T
c.960G>T (p.Val320=)
3g.14141658G>ACA351536474TMEM43c.*1096G>A (n.*1096G>A)
c.1066G>A (p.Ala356Thr)
n.327+2361G>A
c.236+2361G>A
c.961G>A (p.Ala321Thr)
3g.14141658G>CCA351536475TMEM43c.*1096G>C (n.*1096G>C)
c.1066G>C (p.Ala356Pro)
n.327+2361G>C
c.236+2361G>C
c.961G>C (p.Ala321Pro)
3g.14141658G>TCA351536473TMEM43c.*1096G>T (n.*1096G>T)
c.1066G>T (p.Ala356Ser)
n.327+2361G>T
c.236+2361G>T
c.961G>T (p.Ala321Ser)
3g.14141659C>ACA351536476TMEM43c.*1097C>A (n.*1097C>A)
c.1067C>A (p.Ala356Asp)
n.327+2362C>A
c.236+2362C>A
c.962C>A (p.Ala321Asp)
3g.14141659C=CA1346973840TMEM43c.*1097C= (n.*1097C=)
c.1067C= (p.Ala356=)
n.327+2362C=
c.236+2362C=
c.962C= (p.Ala321=)
3g.14141659C>GCA351536477TMEM43c.*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
3g.14141659C>TCA351536478TMEM43c.*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
3g.14141660C>ACA432552951TMEM43c.*1098C>A (n.*1098C>A)
c.1068C>A (p.Ala356=)
n.327+2363C>A
c.236+2363C>A
c.963C>A (p.Ala321=)
3g.14141660C=CA1346973841TMEM43c.*1098C= (n.*1098C=)
c.1068C= (p.Ala356=)
n.327+2363C=
c.236+2363C=
c.963C= (p.Ala321=)
3g.14141660C>GCA432552952TMEM43c.*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
3g.14141660C>TCA432552953TMEM43c.*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
3g.14141661A=CA1346973842TMEM43c.*1099A= (n.*1099A=)
c.1069A= (p.Thr357=)
n.327+2364A=
c.236+2364A=
c.964A= (p.Thr322=)
3g.14141661A>CCA351536479TMEM43c.*1099A>C (n.*1099A>C)
c.1069A>C (p.Thr357Pro)
n.327+2364A>C
c.236+2364A>C
c.964A>C (p.Thr322Pro)
 dbSNP
3g.14141661A>GCA351536480TMEM43c.*1099A>G (n.*1099A>G)
c.1069A>G (p.Thr357Ala)
n.327+2364A>G
c.236+2364A>G
c.964A>G (p.Thr322Ala)
3g.14141661A>TCA351536481TMEM43c.*1099A>T (n.*1099A>T)
c.1069A>T (p.Thr357Ser)
n.327+2364A>T
c.236+2364A>T
c.964A>T (p.Thr322Ser)
3g.14141662C>ACA351536482TMEM43c.*1100C>A (n.*1100C>A)
c.1070C>A (p.Thr357Asn)
n.327+2365C>A
c.236+2365C>A
c.965C>A (p.Thr322Asn)
3g.14141662C>GCA351536483TMEM43c.*1100C>G (n.*1100C>G)
c.1070C>G (p.Thr357Ser)
n.327+2365C>G
c.236+2365C>G
c.965C>G (p.Thr322Ser)
3g.14141662C>TCA351536484TMEM43c.*1100C>T (n.*1100C>T)
c.1070C>T (p.Thr357Ile)
n.327+2365C>T
c.236+2365C>T
c.965C>T (p.Thr322Ile)
 COSMIC
3g.14141663C>ACA432552959TMEM43c.*1101C>A (n.*1101C>A)
c.1071C>A (p.Thr357=)
n.327+2366C>A
c.236+2366C>A
c.966C>A (p.Thr322=)
3g.14141663C>GCA432552961TMEM43c.*1101C>G (n.*1101C>G)
c.1071C>G (p.Thr357=)
n.327+2366C>G
c.236+2366C>G
c.966C>G (p.Thr322=)
3g.14141663C>TCA432552962TMEM43c.*1101C>T (n.*1101C>T)
c.1071C>T (p.Thr357=)
n.327+2366C>T
c.236+2366C>T
c.966C>T (p.Thr322=)
3g.14141664T>ACA351536485TMEM43c.*1102T>A (n.*1102T>A)
c.1072T>A (p.Ser358Thr)
n.327+2367T>A
c.236+2367T>A
c.967T>A (p.Ser323Thr)
3g.14141664T>CCA351536486TMEM43c.*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
3g.14141664T>GCA351536487TMEM43c.*1102T>G (n.*1102T>G)
c.1072T>G (p.Ser358Ala)
n.327+2367T>G
c.236+2367T>G
c.967T>G (p.Ser323Ala)
3g.14141664T=CA1346973843TMEM43c.*1102T= (n.*1102T=)
c.1072T= (p.Ser358=)
n.327+2367T=
c.236+2367T=
c.967T= (p.Ser323=)
3g.14141665C>ACA351536488TMEM43c.*1103C>A (n.*1103C>A)
c.1073C>A (p.Ser358Ter)
n.327+2368C>A
c.236+2368C>A
c.968C>A (p.Ser323Ter)
3g.14141665C=CA1346973844TMEM43c.*1103C= (n.*1103C=)
c.1073C= (p.Ser358=)
n.327+2368C=
c.236+2368C=
c.968C= (p.Ser323=)
3g.14141665C>GCA351536489TMEM43c.*1103C>G (n.*1103C>G)
c.1073C>G (p.Ser358Trp)
n.327+2368C>G
c.236+2368C>G
c.968C>G (p.Ser323Trp)
3g.14141665C>TCA024568TMEM43c.*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
3g.14141666G>ACA051118TMEM43c.*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
3g.14141666G>CCA432552966TMEM43c.*1104G>C (n.*1104G>C)
c.1074G>C (p.Ser358=)
n.327+2369G>C
c.236+2369G>C
c.969G>C (p.Ser323=)
3g.14141666G=CA1346973845TMEM43c.*1104G= (n.*1104G=)
c.1074G= (p.Ser358=)
n.327+2369G=
c.236+2369G=
c.969G= (p.Ser323=)
3g.14141666G>TCA432552967TMEM43c.*1104G>T (n.*1104G>T)
c.1074G>T (p.Ser358=)
n.327+2369G>T
c.236+2369G>T
c.969G>T (p.Ser323=)
3g.14141667C>ACA351536490TMEM43c.*1105C>A (n.*1105C>A)
c.1075C>A (p.Leu359Met)
n.327+2370C>A
c.236+2370C>A
c.970C>A (p.Leu324Met)
3g.14141667C=CA1346973846TMEM43c.*1105C= (n.*1105C=)
c.1075C= (p.Leu359=)
n.327+2370C=
c.236+2370C=
c.970C= (p.Leu324=)
3g.14141667C>GCA351536491TMEM43c.*1105C>G (n.*1105C>G)
c.1075C>G (p.Leu359Val)
n.327+2370C>G
c.236+2370C>G
c.970C>G (p.Leu324Val)
3g.14141667C>TCA051129TMEM43c.*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
3g.14141668T>ACA351536494TMEM43c.*1106T>A (n.*1106T>A)
c.1076T>A (p.Leu359Gln)
n.327+2371T>A
c.236+2371T>A
c.971T>A (p.Leu324Gln)
3g.14141668T>CCA351536493TMEM43c.*1106T>C (n.*1106T>C)
c.1076T>C (p.Leu359Pro)
n.327+2371T>C
c.236+2371T>C
c.971T>C (p.Leu324Pro)
 gnomAD v4
3g.14141668T>GCA351536492TMEM43c.*1106T>G (n.*1106T>G)
c.1076T>G (p.Leu359Arg)
n.327+2371T>G
c.236+2371T>G
c.971T>G (p.Leu324Arg)
3g.14141669G>ACA432552976TMEM43c.*1107G>A (n.*1107G>A)
c.1077G>A (p.Leu359=)
n.327+2372G>A
c.236+2372G>A
c.972G>A (p.Leu324=)
3g.14141669G>CCA432552978TMEM43c.*1107G>C (n.*1107G>C)
c.1077G>C (p.Leu359=)
n.327+2372G>C
c.236+2372G>C
c.972G>C (p.Leu324=)
 ClinVar gnomAD v4
3g.14141669G>TCA432552979TMEM43c.*1107G>T (n.*1107G>T)
c.1077G>T (p.Leu359=)
n.327+2372G>T
c.236+2372G>T
c.972G>T (p.Leu324=)
3g.14141670A>CCA351536495TMEM43c.*1108A>C (n.*1108A>C)
c.1078A>C (p.Thr360Pro)
n.327+2373A>C
c.236+2373A>C
c.973A>C (p.Thr325Pro)
3g.14141670A>GCA351536496TMEM43c.*1108A>G (n.*1108A>G)
c.1078A>G (p.Thr360Ala)
n.327+2373A>G
c.236+2373A>G
c.973A>G (p.Thr325Ala)
3g.14141670A>TCA351536497TMEM43c.*1108A>T (n.*1108A>T)
c.1078A>T (p.Thr360Ser)
n.327+2373A>T
c.236+2373A>T
c.973A>T (p.Thr325Ser)
3g.14141671C>ACA351536498TMEM43c.*1109C>A (n.*1109C>A)
c.1079C>A (p.Thr360Asn)
n.327+2374C>A
c.236+2374C>A
c.974C>A (p.Thr325Asn)
 gnomAD v4
3g.14141671C=CA1346973847TMEM43c.*1109C= (n.*1109C=)
c.1079C= (p.Thr360=)
n.327+2374C=
c.236+2374C=
c.974C= (p.Thr325=)
3g.14141671C>GCA351536499TMEM43c.*1109C>G (n.*1109C>G)
c.1079C>G (p.Thr360Ser)
n.327+2374C>G
c.236+2374C>G
c.974C>G (p.Thr325Ser)
3g.14141671C>TCA351536500TMEM43c.*1109C>T (n.*1109C>T)
c.1079C>T (p.Thr360Ile)
n.327+2374C>T
c.236+2374C>T
c.974C>T (p.Thr325Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.14141672C>ACA432552982TMEM43c.*1110C>A (n.*1110C>A)
c.1080C>A (p.Thr360=)
n.327+2375C>A
c.236+2375C>A
c.975C>A (p.Thr325=)
3g.14141672C=CA1346973848TMEM43c.*1110C= (n.*1110C=)
c.1080C= (p.Thr360=)
n.327+2375C=
c.236+2375C=
c.975C= (p.Thr325=)
3g.14141672C>GCA432552984TMEM43c.*1110C>G (n.*1110C>G)
c.1080C>G (p.Thr360=)
n.327+2375C>G
c.236+2375C>G
c.975C>G (p.Thr325=)
3g.14141672C>TCA051140TMEM43c.*1110C>T (n.*1110C>T)
c.1080C>T (p.Thr360=)
n.327+2375C>T
c.236+2375C>T
c.975C>T (p.Thr325=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.14141673C>ACA351536501TMEM43c.*1111C>A (n.*1111C>A)
c.1081C>A (p.Leu361Met)
n.327+2376C>A
c.236+2376C>A
c.976C>A (p.Leu326Met)
3g.14141673C>GCA351536502TMEM43c.*1111C>G (n.*1111C>G)
c.1081C>G (p.Leu361Val)
n.327+2376C>G
c.236+2376C>G
c.976C>G (p.Leu326Val)
3g.14141673C>TCA432552985TMEM43c.*1111C>T (n.*1111C>T)
c.1081C>T (p.Leu361=)
n.327+2376C>T
c.236+2376C>T
c.976C>T (p.Leu326=)
3g.14141674T>ACA351536503TMEM43c.*1112T>A (n.*1112T>A)
c.1082T>A (p.Leu361Gln)
n.327+2377T>A
c.236+2377T>A
c.977T>A (p.Leu326Gln)
3g.14141674T>CCA351536505TMEM43c.*1112T>C (n.*1112T>C)
c.1082T>C (p.Leu361Pro)
n.327+2377T>C
c.236+2377T>C
c.977T>C (p.Leu326Pro)
3g.14141674T>GCA351536504TMEM43c.*1112T>G (n.*1112T>G)
c.1082T>G (p.Leu361Arg)
n.327+2377T>G
c.236+2377T>G
c.977T>G (p.Leu326Arg)
 gnomAD v4
3g.14141675G>ACA432552986TMEM43c.*1113G>A (n.*1113G>A)
c.1083G>A (p.Leu361=)
n.327+2378G>A
c.236+2378G>A
c.978G>A (p.Leu326=)
3g.14141675G>CCA432552988TMEM43c.*1113G>C (n.*1113G>C)
c.1083G>C (p.Leu361=)
n.327+2378G>C
c.236+2378G>C
c.978G>C (p.Leu326=)
 gnomAD v4
3g.14141675G>TCA432552989TMEM43c.*1113G>T (n.*1113G>T)
c.1083G>T (p.Leu361=)
n.327+2378G>T
c.236+2378G>T
c.978G>T (p.Leu326=)
3g.14141676C>ACA351536506TMEM43c.*1114C>A (n.*1114C>A)
c.1084C>A (p.Leu362Met)
n.327+2379C>A
c.236+2379C>A
c.979C>A (p.Leu327Met)
3g.14141676C>GCA351536507TMEM43c.*1114C>G (n.*1114C>G)
c.1084C>G (p.Leu362Val)
n.327+2379C>G
c.236+2379C>G
c.979C>G (p.Leu327Val)
3g.14141676C>TCA432552990TMEM43c.*1114C>T (n.*1114C>T)
c.1084C>T (p.Leu362=)
n.327+2379C>T
c.236+2379C>T
c.979C>T (p.Leu327=)
3g.14141677T>ACA351536508TMEM43c.*1115T>A (n.*1115T>A)
c.1085T>A (p.Leu362Gln)
n.327+2380T>A
c.236+2380T>A
c.980T>A (p.Leu327Gln)
3g.14141677T>CCA351536509TMEM43c.*1115T>C (n.*1115T>C)
c.1085T>C (p.Leu362Pro)
n.327+2380T>C
c.236+2380T>C
c.980T>C (p.Leu327Pro)
3g.14141677T>GCA051146TMEM43c.*1115T>G (n.*1115T>G)
c.1085T>G (p.Leu362Arg)
n.327+2380T>G
c.236+2380T>G
c.980T>G (p.Leu327Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14141677T=CA1346973849TMEM43c.*1115T= (n.*1115T=)
c.1085T= (p.Leu362=)
n.327+2380T=
c.236+2380T=
c.980T= (p.Leu327=)

Number of alleles fetched