Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.14129498_14129519del | CA2697550691 | TMEM43 | c.*129_*150del (n.*129_*150del) c.99_120del (p.Gly34TrpfsTer9) c.-7_15del | ClinVar |
3 | g.14129502G>A | CA351534339 | TMEM43 | c.*133G>A (n.*133G>A) c.103G>A (p.Gly35Arg) c.-3G>A (n.-3G>A) | gnomAD v4 |
3 | g.14129502G>C | CA351534338 | TMEM43 | c.*133G>C (n.*133G>C) c.103G>C (p.Gly35Arg) c.-3G>C (n.-3G>C) | |
3 | g.14129502G= | CA1346967896 | TMEM43 | c.*133G= (n.*133G=) c.103G= (p.Gly35=) c.-3G= (n.-3G=) | |
3 | g.14129502G>T | CA351534337 | TMEM43 | c.*133G>T (n.*133G>T) c.103G>T (p.Gly35Trp) c.-3G>T (n.-3G>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.14129503G>A | CA351534340 | TMEM43 | c.*134G>A (n.*134G>A) c.104G>A (p.Gly35Glu) c.-2G>A (n.-2G>A) | |
3 | g.14129503G>C | CA351534341 | TMEM43 | c.*134G>C (n.*134G>C) c.104G>C (p.Gly35Ala) c.-2G>C (n.-2G>C) | |
3 | g.14129503G>T | CA351534342 | TMEM43 | c.*134G>T (n.*134G>T) c.104G>T (p.Gly35Val) c.-2G>T (n.-2G>T) | |
3 | g.14129504G>A | CA432551030 | TMEM43 | c.*135G>A (n.*135G>A) c.105G>A (p.Gly35=) c.-1G>A (n.-1G>A) | ClinVar |
3 | g.14129504G>C | CA432551032 | TMEM43 | c.*135G>C (n.*135G>C) c.105G>C (p.Gly35=) c.-1G>C (n.-1G>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.14129504G= | CA1346967897 | TMEM43 | c.*135G= (n.*135G=) c.105G= (p.Gly35=) c.-1G= (n.-1G=) | |
3 | g.14129504G>T | CA432551031 | TMEM43 | c.*135G>T (n.*135G>T) c.105G>T (p.Gly35=) c.-1G>T (n.-1G>T) | |
3 | g.14129505A>C | CA351534343 | TMEM43 | c.*136A>C (n.*136A>C) c.106A>C (p.Met36Leu) c.1A>C (p.Met1Leu) | |
3 | g.14129505A>G | CA351534344 | TMEM43 | c.*136A>G (n.*136A>G) c.106A>G (p.Met36Val) c.1A>G (p.Met1Val) | ClinVar gnomAD v4 |
3 | g.14129505A>T | CA351534345 | TMEM43 | c.*136A>T (n.*136A>T) c.106A>T (p.Met36Leu) c.1A>T (p.Met1Leu) | |
3 | g.14129506T>A | CA351534346 | TMEM43 | c.*137T>A (n.*137T>A) c.107T>A (p.Met36Lys) c.2T>A (p.Met1Lys) | ClinVar dbSNP gnomAD v4 |
3 | g.14129506T>C | CA351534347 | TMEM43 | c.*137T>C (n.*137T>C) c.107T>C (p.Met36Thr) c.2T>C (p.Met1Thr) | gnomAD v4 |
3 | g.14129506T>G | CA351534348 | TMEM43 | c.*137T>G (n.*137T>G) c.107T>G (p.Met36Arg) c.2T>G (p.Met1Arg) | gnomAD v4 |
3 | g.14129506T= | CA1346967898 | TMEM43 | c.*137T= (n.*137T=) c.107T= (p.Met36=) c.2T= (p.Met1=) | |
3 | g.14129507G>A | CA351534349 | TMEM43 | c.*138G>A (n.*138G>A) c.108G>A (p.Met36Ile) c.3G>A (p.Met1Ile) | ClinVar dbSNP |
3 | g.14129507G>C | CA351534350 | TMEM43 | c.*138G>C (n.*138G>C) c.108G>C (p.Met36Ile) c.3G>C (p.Met1Ile) | |
3 | g.14129507G= | CA1346967899 | TMEM43 | c.*138G= (n.*138G=) c.108G= (p.Met36=) c.3G= (p.Met1=) | |
3 | g.14129507G>T | CA351534351 | TMEM43 | c.*138G>T (n.*138G>T) c.108G>T (p.Met36Ile) c.3G>T (p.Met1Ile) | |
3 | g.14129508T>A | CA351534353 | TMEM43 | c.*139T>A (n.*139T>A) c.109T>A (p.Phe37Ile) c.4T>A (p.Phe2Ile) | |
3 | g.14129508T>C | CA351534354 | TMEM43 | c.*139T>C (n.*139T>C) c.109T>C (p.Phe37Leu) c.4T>C (p.Phe2Leu) | ClinVar dbSNP |
3 | g.14129508T>G | CA351534352 | TMEM43 | c.*139T>G (n.*139T>G) c.109T>G (p.Phe37Val) c.4T>G (p.Phe2Val) | |
3 | g.14129508T= | CA1346967900 | TMEM43 | c.*139T= (n.*139T=) c.109T= (p.Phe37=) c.4T= (p.Phe2=) | |
3 | g.14129509T>A | CA351534355 | TMEM43 | c.*140T>A (n.*140T>A) c.110T>A (p.Phe37Tyr) c.5T>A (p.Phe2Tyr) | |
3 | g.14129509T>C | CA351534356 | TMEM43 | c.*140T>C (n.*140T>C) c.110T>C (p.Phe37Ser) c.5T>C (p.Phe2Ser) | |
3 | g.14129509T>G | CA351534357 | TMEM43 | c.*140T>G (n.*140T>G) c.110T>G (p.Phe37Cys) c.5T>G (p.Phe2Cys) | ClinVar dbSNP gnomAD v4 |
3 | g.14129509T= | CA1346967901 | TMEM43 | c.*140T= (n.*140T=) c.110T= (p.Phe37=) c.5T= (p.Phe2=) | |
3 | g.14129510T>A | CA351534358 | TMEM43 | c.*141T>A (n.*141T>A) c.111T>A (p.Phe37Leu) c.6T>A (p.Phe2Leu) | |
3 | g.14129510T>C | CA432551033 | TMEM43 | c.*141T>C (n.*141T>C) c.111T>C (p.Phe37=) c.6T>C (p.Phe2=) | dbSNP |
3 | g.14129510T>G | CA351534359 | TMEM43 | c.*141T>G (n.*141T>G) c.111T>G (p.Phe37Leu) c.6T>G (p.Phe2Leu) | |
3 | g.14129511G>A | CA351534361 | TMEM43 | c.*142G>A (n.*142G>A) c.112G>A (p.Val38Met) c.7G>A (p.Val3Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.14129511G>C | CA69728586 | TMEM43 | c.*142G>C (n.*142G>C) c.112G>C (p.Val38Leu) c.7G>C (p.Val3Leu) | dbSNP |
3 | g.14129511G= | CA1346967902 | TMEM43 | c.*142G= (n.*142G=) c.112G= (p.Val38=) c.7G= (p.Val3=) | |
3 | g.14129511G>T | CA351534360 | TMEM43 | c.*142G>T (n.*142G>T) c.112G>T (p.Val38Leu) c.7G>T (p.Val3Leu) | |
3 | g.14129512T>A | CA351534362 | TMEM43 | c.*143T>A (n.*143T>A) c.113T>A (p.Val38Glu) c.8T>A (p.Val3Glu) | ClinVar dbSNP |
3 | g.14129512T>C | CA351534363 | TMEM43 | c.*143T>C (n.*143T>C) c.113T>C (p.Val38Ala) c.8T>C (p.Val3Ala) | |
3 | g.14129512T>G | CA351534364 | TMEM43 | c.*143T>G (n.*143T>G) c.113T>G (p.Val38Gly) c.8T>G (p.Val3Gly) | |
3 | g.14129512T= | CA1346967903 | TMEM43 | c.*143T= (n.*143T=) c.113T= (p.Val38=) c.8T= (p.Val3=) | |
3 | g.14129513G>A | CA432551036 | TMEM43 | c.*144G>A (n.*144G>A) c.114G>A (p.Val38=) c.9G>A (p.Val3=) | |
3 | g.14129513G>C | CA432551034 | TMEM43 | c.*144G>C (n.*144G>C) c.114G>C (p.Val38=) c.9G>C (p.Val3=) | |
3 | g.14129513G>T | CA432551035 | TMEM43 | c.*144G>T (n.*144G>T) c.114G>T (p.Val38=) c.9G>T (p.Val3=) | |
3 | g.14129514G>A | CA351534365 | TMEM43 | c.*145G>A (n.*145G>A) c.115G>A (p.Gly39Arg) c.10G>A (p.Gly4Arg) | |
3 | g.14129514G>C | CA351534366 | TMEM43 | c.*145G>C (n.*145G>C) c.115G>C (p.Gly39Arg) c.10G>C (p.Gly4Arg) | |
3 | g.14129514G>T | CA351534367 | TMEM43 | c.*145G>T (n.*145G>T) c.115G>T (p.Gly39Trp) c.10G>T (p.Gly4Trp) | |
3 | g.14129515G>A | CA351534370 | TMEM43 | c.*146G>A (n.*146G>A) c.116G>A (p.Gly39Glu) c.11G>A (p.Gly4Glu) | |
3 | g.14129515G>C | CA351534368 | TMEM43 | c.*146G>C (n.*146G>C) c.116G>C (p.Gly39Ala) c.11G>C (p.Gly4Ala) | |
3 | g.14129515G>T | CA351534369 | TMEM43 | c.*146G>T (n.*146G>T) c.116G>T (p.Gly39Val) c.11G>T (p.Gly4Val) | |
3 | g.14129516G>A | CA432551037 | TMEM43 | c.*147G>A (n.*147G>A) c.117G>A (p.Gly39=) c.12G>A (p.Gly4=) | |
3 | g.14129516G>C | CA432551038 | TMEM43 | c.*147G>C (n.*147G>C) c.117G>C (p.Gly39=) c.12G>C (p.Gly4=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.14129516G= | CA1346967904 | TMEM43 | c.*147G= (n.*147G=) c.117G= (p.Gly39=) c.12G= (p.Gly4=) | |
3 | g.14129516G>T | CA432551039 | TMEM43 | c.*147G>T (n.*147G>T) c.117G>T (p.Gly39=) c.12G>T (p.Gly4=) | |
3 | g.14129517del | CA2664568580 | TMEM43 | c.*148del (n.*148del) c.118del (p.Leu40SerfsTer10) c.13del (p.Leu5SerfsTer10) | gnomAD v4 |
3 | g.14129517C>A | CA351534371 | TMEM43 | c.*148C>A (n.*148C>A) c.118C>A (p.Leu40Ile) c.13C>A (p.Leu5Ile) | |
3 | g.14129517C= | CA1346967905 | TMEM43 | c.*148C= (n.*148C=) c.118C= (p.Leu40=) c.13C= (p.Leu5=) | |
3 | g.14129517C>G | CA051438 | TMEM43 | c.*148C>G (n.*148C>G) c.118C>G (p.Leu40Val) c.13C>G (p.Leu5Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14129517C>T | CA351534372 | TMEM43 | c.*148C>T (n.*148C>T) c.118C>T (p.Leu40Phe) c.13C>T (p.Leu5Phe) | |
3 | g.14129518T>A | CA351534373 | TMEM43 | c.*149T>A (n.*149T>A) c.119T>A (p.Leu40His) c.14T>A (p.Leu5His) | |
3 | g.14129518T>C | CA351534374 | TMEM43 | c.*149T>C (n.*149T>C) c.119T>C (p.Leu40Pro) c.14T>C (p.Leu5Pro) | |
3 | g.14129518T>G | CA351534375 | TMEM43 | c.*149T>G (n.*149T>G) c.119T>G (p.Leu40Arg) c.14T>G (p.Leu5Arg) | |
3 | g.14129519C>A | CA432551040 | TMEM43 | c.*150C>A (n.*150C>A) c.120C>A (p.Leu40=) c.15C>A (p.Leu5=) | |
3 | g.14129519C= | CA1346967906 | TMEM43 | c.*150C= (n.*150C=) c.120C= (p.Leu40=) c.15C= (p.Leu5=) | |
3 | g.14129519C>G | CA432551041 | TMEM43 | c.*150C>G (n.*150C>G) c.120C>G (p.Leu40=) c.15C>G (p.Leu5=) | |
3 | g.14129519C>T | CA051476 | TMEM43 | c.*150C>T (n.*150C>T) c.120C>T (p.Leu40=) c.15C>T (p.Leu5=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.14129520A= | CA1346967907 | TMEM43 | c.*151A= (n.*151A=) c.121A= (p.Met41=) c.16A= (p.Met6=) | |
3 | g.14129520A>C | CA351534376 | TMEM43 | c.*151A>C (n.*151A>C) c.121A>C (p.Met41Leu) c.16A>C (p.Met6Leu) | dbSNP gnomAD v4 |
3 | g.14129520A>G | CA024600 | TMEM43 | c.*151A>G (n.*151A>G) c.121A>G (p.Met41Val) c.16A>G (p.Met6Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14129520A>T | CA351534377 | TMEM43 | c.*151A>T (n.*151A>T) c.121A>T (p.Met41Leu) c.16A>T (p.Met6Leu) | |
3 | g.14129521T>A | CA351534378 | TMEM43 | c.*152T>A (n.*152T>A) c.122T>A (p.Met41Lys) c.17T>A (p.Met6Lys) | |
3 | g.14129521T>C | CA351534379 | TMEM43 | c.*152T>C (n.*152T>C) c.122T>C (p.Met41Thr) c.17T>C (p.Met6Thr) | |
3 | g.14129521T>G | CA351534380 | TMEM43 | c.*152T>G (n.*152T>G) c.122T>G (p.Met41Arg) c.17T>G (p.Met6Arg) | |
3 | g.14129522G>A | CA351534383 | TMEM43 | c.*153G>A (n.*153G>A) c.123G>A (p.Met41Ile) c.18G>A (p.Met6Ile) | gnomAD v4 |
3 | g.14129522G>C | CA351534381 | TMEM43 | c.*153G>C (n.*153G>C) c.123G>C (p.Met41Ile) c.18G>C (p.Met6Ile) | |
3 | g.14129522G>T | CA351534382 | TMEM43 | c.*153G>T (n.*153G>T) c.123G>T (p.Met41Ile) c.18G>T (p.Met6Ile) | |
3 | g.14129523G>A | CA351534384 | TMEM43 | c.*154G>A (n.*154G>A) c.124G>A (p.Ala42Thr) c.19G>A (p.Ala7Thr) | |
3 | g.14129523G>C | CA351534385 | TMEM43 | c.*154G>C (n.*154G>C) c.124G>C (p.Ala42Pro) c.19G>C (p.Ala7Pro) | |
3 | g.14129523G>T | CA351534386 | TMEM43 | c.*154G>T (n.*154G>T) c.124G>T (p.Ala42Ser) c.19G>T (p.Ala7Ser) | ClinVar dbSNP |
3 | g.14129524C>A | CA351534387 | TMEM43 | c.*155C>A (n.*155C>A) c.125C>A (p.Ala42Asp) c.20C>A (p.Ala7Asp) | |
3 | g.14129524C>G | CA351534388 | TMEM43 | c.*155C>G (n.*155C>G) c.125C>G (p.Ala42Gly) c.20C>G (p.Ala7Gly) | |
3 | g.14129524C>T | CA351534389 | TMEM43 | c.*155C>T (n.*155C>T) c.125C>T (p.Ala42Val) c.20C>T (p.Ala7Val) | |
3 | g.14129525C>A | CA432551042 | TMEM43 | c.*156C>A (n.*156C>A) c.126C>A (p.Ala42=) c.21C>A (p.Ala7=) | |
3 | g.14129525C>G | CA432551043 | TMEM43 | c.*156C>G (n.*156C>G) c.126C>G (p.Ala42=) c.21C>G (p.Ala7=) | |
3 | g.14129525C>T | CA432551044 | TMEM43 | c.*156C>T (n.*156C>T) c.126C>T (p.Ala42=) c.21C>T (p.Ala7=) | |
3 | g.14129526T>A | CA351534390 | TMEM43 | c.*157T>A (n.*157T>A) c.127T>A (p.Phe43Ile) c.22T>A (p.Phe8Ile) | |
3 | g.14129526T>C | CA351534391 | TMEM43 | c.*157T>C (n.*157T>C) c.127T>C (p.Phe43Leu) c.22T>C (p.Phe8Leu) | |
3 | g.14129526T>G | CA351534392 | TMEM43 | c.*157T>G (n.*157T>G) c.127T>G (p.Phe43Val) c.22T>G (p.Phe8Val) | |
3 | g.14129527T>A | CA351534393 | TMEM43 | c.*158T>A (n.*158T>A) c.128T>A (p.Phe43Tyr) c.23T>A (p.Phe8Tyr) | |
3 | g.14129527T>C | CA351534394 | TMEM43 | c.*158T>C (n.*158T>C) c.128T>C (p.Phe43Ser) c.23T>C (p.Phe8Ser) | |
3 | g.14129527T>G | CA351534395 | TMEM43 | c.*158T>G (n.*158T>G) c.128T>G (p.Phe43Cys) c.23T>G (p.Phe8Cys) | |
3 | g.14129528C>A | CA351534396 | TMEM43 | c.*159C>A (n.*159C>A) c.129C>A (p.Phe43Leu) c.24C>A (p.Phe8Leu) | |
3 | g.14129528C>G | CA351534397 | TMEM43 | c.*159C>G (n.*159C>G) c.129C>G (p.Phe43Leu) c.24C>G (p.Phe8Leu) | |
3 | g.14129528C>T | CA432551045 | TMEM43 | c.*159C>T (n.*159C>T) c.129C>T (p.Phe43=) c.24C>T (p.Phe8=) | COSMIC |
3 | g.14129529del | CA2499216515 | TMEM43 | c.*160del (n.*160del) c.130del (p.Leu44CysfsTer6) c.25del (p.Leu9CysfsTer6) | ClinVar dbSNP |
3 | g.14129529C>A | CA351534399 | TMEM43 | c.*160C>A (n.*160C>A) c.130C>A (p.Leu44Met) c.25C>A (p.Leu9Met) | |
3 | g.14129529C>G | CA351534398 | TMEM43 | c.*160C>G (n.*160C>G) c.130C>G (p.Leu44Val) c.25C>G (p.Leu9Val) | |
3 | g.14129529C>T | CA432551046 | TMEM43 | c.*160C>T (n.*160C>T) c.130C>T (p.Leu44=) c.25C>T (p.Leu9=) | |
3 | g.14129530T>A | CA351534400 | TMEM43 | c.*161T>A (n.*161T>A) c.131T>A (p.Leu44Gln) c.26T>A (p.Leu9Gln) | |
3 | g.14129530T>C | CA351534401 | TMEM43 | c.*161T>C (n.*161T>C) c.131T>C (p.Leu44Pro) c.26T>C (p.Leu9Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.14129530T>G | CA351534402 | TMEM43 | c.*161T>G (n.*161T>G) c.131T>G (p.Leu44Arg) c.26T>G (p.Leu9Arg) | |
3 | g.14129530T= | CA1346967908 | TMEM43 | c.*161T= (n.*161T=) c.131T= (p.Leu44=) c.26T= (p.Leu9=) | |
3 | g.14129531G>A | CA051599 | TMEM43 | c.*162G>A (n.*162G>A) c.132G>A (p.Leu44=) c.27G>A (p.Leu9=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.14129531G>C | CA432551047 | TMEM43 | c.*162G>C (n.*162G>C) c.132G>C (p.Leu44=) c.27G>C (p.Leu9=) | dbSNP |
3 | g.14129531G= | CA1346967909 | TMEM43 | c.*162G= (n.*162G=) c.132G= (p.Leu44=) c.27G= (p.Leu9=) | |
3 | g.14129531G>T | CA432551048 | TMEM43 | c.*162G>T (n.*162G>T) c.132G>T (p.Leu44=) c.27G>T (p.Leu9=) | |
3 | g.14129532C>A | CA351534403 | TMEM43 | c.*163C>A (n.*163C>A) c.133C>A (p.Leu45Ile) c.28C>A (p.Leu10Ile) | COSMIC |
3 | g.14129532C= | CA1346967910 | TMEM43 | c.*163C= (n.*163C=) c.133C= (p.Leu45=) c.28C= (p.Leu10=) | |
3 | g.14129532C>G | CA351534404 | TMEM43 | c.*163C>G (n.*163C>G) c.133C>G (p.Leu45Val) c.28C>G (p.Leu10Val) | |
3 | g.14129532C>T | CA351534405 | TMEM43 | c.*163C>T (n.*163C>T) c.133C>T (p.Leu45Phe) c.28C>T (p.Leu10Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14129533T>A | CA351534406 | TMEM43 | c.*164T>A (n.*164T>A) c.134T>A (p.Leu45His) c.29T>A (p.Leu10His) | |
3 | g.14129533T>C | CA351534407 | TMEM43 | c.*164T>C (n.*164T>C) c.134T>C (p.Leu45Pro) c.29T>C (p.Leu10Pro) | |
3 | g.14129533T>G | CA351534408 | TMEM43 | c.*164T>G (n.*164T>G) c.134T>G (p.Leu45Arg) c.29T>G (p.Leu10Arg) | |
3 | g.14129534C>A | CA432551049 | TMEM43 | c.*165C>A (n.*165C>A) c.135C>A (p.Leu45=) c.30C>A (p.Leu10=) | |
3 | g.14129534C= | CA1346967911 | TMEM43 | c.*165C= (n.*165C=) c.135C= (p.Leu45=) c.30C= (p.Leu10=) | |
3 | g.14129534C>G | CA432551050 | TMEM43 | c.*165C>G (n.*165C>G) c.135C>G (p.Leu45=) c.30C>G (p.Leu10=) | ClinVar dbSNP gnomAD v4 |
3 | g.14129534C>T | CA432551051 | TMEM43 | c.*165C>T (n.*165C>T) c.135C>T (p.Leu45=) c.30C>T (p.Leu10=) | gnomAD v4 |
3 | g.14129535T>A | CA351534409 | TMEM43 | c.*166T>A (n.*166T>A) c.136T>A (p.Ser46Thr) c.31T>A (p.Ser11Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.14129535T>C | CA051850 | TMEM43 | c.*166T>C (n.*166T>C) c.136T>C (p.Ser46Pro) c.31T>C (p.Ser11Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14129535T>G | CA351534410 | TMEM43 | c.*166T>G (n.*166T>G) c.136T>G (p.Ser46Ala) c.31T>G (p.Ser11Ala) | |
3 | g.14129535T= | CA1346967912 | TMEM43 | c.*166T= (n.*166T=) c.136T= (p.Ser46=) c.31T= (p.Ser11=) | |
3 | g.14129536C>A | CA351534411 | TMEM43 | c.*167C>A (n.*167C>A) c.137C>A (p.Ser46Tyr) c.32C>A (p.Ser11Tyr) | |
3 | g.14129536C>G | CA351534413 | TMEM43 | c.*167C>G (n.*167C>G) c.137C>G (p.Ser46Cys) c.32C>G (p.Ser11Cys) | |
3 | g.14129536C>T | CA351534412 | TMEM43 | c.*167C>T (n.*167C>T) c.137C>T (p.Ser46Phe) c.32C>T (p.Ser11Phe) | |
3 | g.14129536_14129539delinsCCTT | CA1346967913 | TMEM43 | c.*167_*170delinsCCTT (n.*167_*170delinsCCTT) c.137_140delinsCCTT (p.Ser46=) c.32_35delinsCCTT (p.Ser11=) | |
3 | g.14129537C>A | CA432551052 | TMEM43 | c.*168C>A (n.*168C>A) c.138C>A (p.Ser46=) c.33C>A (p.Ser11=) | |
3 | g.14129537C>G | CA432551053 | TMEM43 | c.*168C>G (n.*168C>G) c.138C>G (p.Ser46=) c.33C>G (p.Ser11=) | |
3 | g.14129537C>T | CA432551054 | TMEM43 | c.*168C>T (n.*168C>T) c.138C>T (p.Ser46=) c.33C>T (p.Ser11=) | |
3 | g.14129539_14129541del | CA051865 | TMEM43 | c.*170_*172del (n.*170_*172del) c.140_142del (p.Phe47del) c.35_37del (p.Phe12del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.14129538T>A | CA351534414 | TMEM43 | c.*169T>A (n.*169T>A) c.139T>A (p.Phe47Ile) c.34T>A (p.Phe12Ile) | |
3 | g.14129538T>C | CA351534415 | TMEM43 | c.*169T>C (n.*169T>C) c.139T>C (p.Phe47Leu) c.34T>C (p.Phe12Leu) | |
3 | g.14129538T>G | CA351534416 | TMEM43 | c.*169T>G (n.*169T>G) c.139T>G (p.Phe47Val) c.34T>G (p.Phe12Val) | |
3 | g.14129539T>A | CA351534417 | TMEM43 | c.*170T>A (n.*170T>A) c.140T>A (p.Phe47Tyr) c.35T>A (p.Phe12Tyr) | |
3 | g.14129539T>C | CA351534418 | TMEM43 | c.*170T>C (n.*170T>C) c.140T>C (p.Phe47Ser) c.35T>C (p.Phe12Ser) | ClinVar dbSNP |
3 | g.14129539T>G | CA351534419 | TMEM43 | c.*170T>G (n.*170T>G) c.140T>G (p.Phe47Cys) c.35T>G (p.Phe12Cys) | |
3 | g.14129539T= | CA1346967914 | TMEM43 | c.*170T= (n.*170T=) c.140T= (p.Phe47=) c.35T= (p.Phe12=) | |
3 | g.14129540C>A | CA351534421 | TMEM43 | c.*171C>A (n.*171C>A) c.141C>A (p.Phe47Leu) c.36C>A (p.Phe12Leu) | |
3 | g.14129540C>G | CA351534422 | TMEM43 | c.*171C>G (n.*171C>G) c.141C>G (p.Phe47Leu) c.36C>G (p.Phe12Leu) | |
3 | g.14129540C>T | CA432551056 | TMEM43 | c.*171C>T (n.*171C>T) c.141C>T (p.Phe47=) c.36C>T (p.Phe12=) | |
3 | g.14129541T>A | CA351534423 | TMEM43 | c.*172T>A (n.*172T>A) c.142T>A (p.Tyr48Asn) c.37T>A (p.Tyr13Asn) | |
3 | g.14129541T>C | CA351534424 | TMEM43 | c.*172T>C (n.*172T>C) c.142T>C (p.Tyr48His) c.37T>C (p.Tyr13His) | |
3 | g.14129541T>G | CA351534425 | TMEM43 | c.*172T>G (n.*172T>G) c.142T>G (p.Tyr48Asp) c.37T>G (p.Tyr13Asp) | |
3 | g.14129542A= | CA1346967915 | TMEM43 | c.*173A= (n.*173A=) c.143A= (p.Tyr48=) c.38A= (p.Tyr13=) | |
3 | g.14129542A>C | CA351534426 | TMEM43 | c.*173A>C (n.*173A>C) c.143A>C (p.Tyr48Ser) c.38A>C (p.Tyr13Ser) | ClinVar dbSNP |
3 | g.14129542A>G | CA351534427 | TMEM43 | c.*173A>G (n.*173A>G) c.143A>G (p.Tyr48Cys) c.38A>G (p.Tyr13Cys) | ClinVar |
3 | g.14129542A>T | CA351534428 | TMEM43 | c.*173A>T (n.*173A>T) c.143A>T (p.Tyr48Phe) c.38A>T (p.Tyr13Phe) | |
3 | g.14129543C>A | CA351534429 | TMEM43 | c.*174C>A (n.*174C>A) c.144C>A (p.Tyr48Ter) c.39C>A (p.Tyr13Ter) | |
3 | g.14129543C>G | CA351534430 | TMEM43 | c.*174C>G (n.*174C>G) c.144C>G (p.Tyr48Ter) c.39C>G (p.Tyr13Ter) | |
3 | g.14129543C>T | CA432551057 | TMEM43 | c.*174C>T (n.*174C>T) c.144C>T (p.Tyr48=) c.39C>T (p.Tyr13=) | |
3 | g.14129544C>A | CA351534431 | TMEM43 | c.*175C>A (n.*175C>A) c.145C>A (p.Leu49Ile) c.40C>A (p.Leu14Ile) | |
3 | g.14129544C>G | CA351534432 | TMEM43 | c.*175C>G (n.*175C>G) c.145C>G (p.Leu49Val) c.40C>G (p.Leu14Val) | |
3 | g.14129544C>T | CA432551058 | TMEM43 | c.*175C>T (n.*175C>T) c.145C>T (p.Leu49=) c.40C>T (p.Leu14=) | |
3 | g.14129545T>A | CA351534433 | TMEM43 | c.*176T>A (n.*176T>A) c.146T>A (p.Leu49Gln) c.41T>A (p.Leu14Gln) | |
3 | g.14129545T>C | CA351534434 | TMEM43 | c.*176T>C (n.*176T>C) c.146T>C (p.Leu49Pro) c.41T>C (p.Leu14Pro) | |
3 | g.14129545T>G | CA351534435 | TMEM43 | c.*176T>G (n.*176T>G) c.146T>G (p.Leu49Arg) c.41T>G (p.Leu14Arg) | |
3 | g.14129546A= | CA1346967916 | TMEM43 | c.*177A= (n.*177A=) c.147A= (p.Leu49=) c.42A= (p.Leu14=) | |
3 | g.14129546A>C | CA432551059 | TMEM43 | c.*177A>C (n.*177A>C) c.147A>C (p.Leu49=) c.42A>C (p.Leu14=) | |
3 | g.14129546A>G | CA024606 | TMEM43 | c.*177A>G (n.*177A>G) c.147A>G (p.Leu49=) c.42A>G (p.Leu14=) | ClinVar dbSNP |
3 | g.14129546A>T | CA432551060 | TMEM43 | c.*177A>T (n.*177A>T) c.147A>T (p.Leu49=) c.42A>T (p.Leu14=) | |
3 | g.14129547A>C | CA351534436 | TMEM43 | c.*178A>C (n.*178A>C) c.148A>C (p.Ile50Leu) c.43A>C (p.Ile15Leu) | |
3 | g.14129547A>G | CA351534437 | TMEM43 | c.*178A>G (n.*178A>G) c.148A>G (p.Ile50Val) c.43A>G (p.Ile15Val) | |
3 | g.14129547A>T | CA351534438 | TMEM43 | c.*178A>T (n.*178A>T) c.148A>T (p.Ile50Phe) c.43A>T (p.Ile15Phe) | |
3 | g.14129548T>A | CA351534439 | TMEM43 | c.*179T>A (n.*179T>A) c.149T>A (p.Ile50Asn) c.44T>A (p.Ile15Asn) | |
3 | g.14129548T>C | CA351534440 | TMEM43 | c.*179T>C (n.*179T>C) c.149T>C (p.Ile50Thr) c.44T>C (p.Ile15Thr) | |
3 | g.14129548T>G | CA351534441 | TMEM43 | c.*179T>G (n.*179T>G) c.149T>G (p.Ile50Ser) c.44T>G (p.Ile15Ser) | |
3 | g.14129549T>A | CA432551061 | TMEM43 | c.*180T>A (n.*180T>A) c.150T>A (p.Ile50=) c.45T>A (p.Ile15=) | |
3 | g.14129549T>C | CA432551062 | TMEM43 | c.*180T>C (n.*180T>C) c.150T>C (p.Ile50=) c.45T>C (p.Ile15=) | dbSNP |
3 | g.14129549T>G | CA351534442 | TMEM43 | c.*180T>G (n.*180T>G) c.150T>G (p.Ile50Met) c.45T>G (p.Ile15Met) | |
3 | g.14129549T= | CA1346967917 | TMEM43 | c.*180T= (n.*180T=) c.150T= (p.Ile50=) c.45T= (p.Ile15=) | |
3 | g.14129550T>A | CA351534443 | TMEM43 | c.*181T>A (n.*181T>A) c.151T>A (p.Phe51Ile) c.46T>A (p.Phe16Ile) | |
3 | g.14129550T>C | CA351534445 | TMEM43 | c.*181T>C (n.*181T>C) c.151T>C (p.Phe51Leu) c.46T>C (p.Phe16Leu) | |
3 | g.14129550T>G | CA351534444 | TMEM43 | c.*181T>G (n.*181T>G) c.151T>G (p.Phe51Val) c.46T>G (p.Phe16Val) | gnomAD v4 |
3 | g.14129551T>A | CA351534446 | TMEM43 | c.*182T>A (n.*182T>A) c.152T>A (p.Phe51Tyr) c.47T>A (p.Phe16Tyr) | |
3 | g.14129551T>C | CA351534447 | TMEM43 | c.*182T>C (n.*182T>C) c.152T>C (p.Phe51Ser) c.47T>C (p.Phe16Ser) | |
3 | g.14129551T>G | CA351534448 | TMEM43 | c.*182T>G (n.*182T>G) c.152T>G (p.Phe51Cys) c.47T>G (p.Phe16Cys) | |
3 | g.14129552C>A | CA351534449 | TMEM43 | c.*183C>A (n.*183C>A) c.153C>A (p.Phe51Leu) c.48C>A (p.Phe16Leu) | |
3 | g.14129552C= | CA1346967918 | TMEM43 | c.*183C= (n.*183C=) c.153C= (p.Phe51=) c.48C= (p.Phe16=) | |
3 | g.14129552C>G | CA351534450 | TMEM43 | c.*183C>G (n.*183C>G) c.153C>G (p.Phe51Leu) c.48C>G (p.Phe16Leu) | |
3 | g.14129552C>T | CA432551063 | TMEM43 | c.*183C>T (n.*183C>T) c.153C>T (p.Phe51=) c.48C>T (p.Phe16=) | dbSNP gnomAD v4 |
3 | g.14129553A= | CA1346967919 | TMEM43 | c.*184A= (n.*184A=) c.154A= (p.Thr52=) c.49A= (p.Thr17=) | |
3 | g.14129553A>C | CA351534451 | TMEM43 | c.*184A>C (n.*184A>C) c.154A>C (p.Thr52Pro) c.49A>C (p.Thr17Pro) | dbSNP gnomAD v4 |
3 | g.14129553A>G | CA351534452 | TMEM43 | c.*184A>G (n.*184A>G) c.154A>G (p.Thr52Ala) c.49A>G (p.Thr17Ala) | |
3 | g.14129553A>T | CA351534453 | TMEM43 | c.*184A>T (n.*184A>T) c.154A>T (p.Thr52Ser) c.49A>T (p.Thr17Ser) | |
3 | g.14129554C>A | CA351534454 | TMEM43 | c.*185C>A (n.*185C>A) c.155C>A (p.Thr52Asn) c.50C>A (p.Thr17Asn) | |
3 | g.14129554C= | CA1346967920 | TMEM43 | c.*185C= (n.*185C=) c.155C= (p.Thr52=) c.50C= (p.Thr17=) | |
3 | g.14129554C>G | CA351534455 | TMEM43 | c.*185C>G (n.*185C>G) c.155C>G (p.Thr52Ser) c.50C>G (p.Thr17Ser) | |
3 | g.14129554C>T | CA351534456 | TMEM43 | c.*185C>T (n.*185C>T) c.155C>T (p.Thr52Ile) c.50C>T (p.Thr17Ile) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.14129555C>A | CA432551064 | TMEM43 | c.*186C>A (n.*186C>A) c.156C>A (p.Thr52=) c.51C>A (p.Thr17=) | |
3 | g.14129555C= | CA1346967921 | TMEM43 | c.*186C= (n.*186C=) c.156C= (p.Thr52=) c.51C= (p.Thr17=) | |
3 | g.14129555C>G | CA432551065 | TMEM43 | c.*186C>G (n.*186C>G) c.156C>G (p.Thr52=) c.51C>G (p.Thr17=) | |
3 | g.14129555C>T | CA432551066 | TMEM43 | c.*186C>T (n.*186C>T) c.156C>T (p.Thr52=) c.51C>T (p.Thr17=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.14129556A>C | CA351534459 | TMEM43 | c.*187A>C (n.*187A>C) c.157A>C (p.Asn53His) c.52A>C (p.Asn18His) | |
3 | g.14129556A>G | CA351534458 | TMEM43 | c.*187A>G (n.*187A>G) c.157A>G (p.Asn53Asp) c.52A>G (p.Asn18Asp) | |
3 | g.14129556A>T | CA351534457 | TMEM43 | c.*187A>T (n.*187A>T) c.157A>T (p.Asn53Tyr) c.52A>T (p.Asn18Tyr) | |
3 | g.14129557A>C | CA351534460 | TMEM43 | c.*188A>C (n.*188A>C) c.158A>C (p.Asn53Thr) c.53A>C (p.Asn18Thr) | |
3 | g.14129557A>G | CA351534461 | TMEM43 | c.*188A>G (n.*188A>G) c.158A>G (p.Asn53Ser) c.53A>G (p.Asn18Ser) | gnomAD v4 |
3 | g.14129557A>T | CA351534462 | TMEM43 | c.*188A>T (n.*188A>T) c.158A>T (p.Asn53Ile) c.53A>T (p.Asn18Ile) | |
3 | g.14129558T>A | CA351534463 | TMEM43 | c.*189T>A (n.*189T>A) c.159T>A (p.Asn53Lys) c.54T>A (p.Asn18Lys) | |
3 | g.14129558T>C | CA432551068 | TMEM43 | c.*189T>C (n.*189T>C) c.159T>C (p.Asn53=) c.54T>C (p.Asn18=) | |
3 | g.14129558T>G | CA351534464 | TMEM43 | c.*189T>G (n.*189T>G) c.159T>G (p.Asn53Lys) c.54T>G (p.Asn18Lys) | |
3 | g.14129559G>A | CA351534465 | TMEM43 | c.*190G>A (n.*190G>A) c.160G>A (p.Glu54Lys) c.55G>A (p.Glu19Lys) | gnomAD v4 |
3 | g.14129559G>C | CA351534466 | TMEM43 | c.*190G>C (n.*190G>C) c.160G>C (p.Glu54Gln) c.55G>C (p.Glu19Gln) | |
3 | g.14129559G>T | CA351534467 | TMEM43 | c.*190G>T (n.*190G>T) c.160G>T (p.Glu54Ter) c.55G>T (p.Glu19Ter) | |
3 | g.14129560A>C | CA351534468 | TMEM43 | c.*191A>C (n.*191A>C) c.161A>C (p.Glu54Ala) c.56A>C (p.Glu19Ala) | |
3 | g.14129560A>G | CA351534469 | TMEM43 | c.*191A>G (n.*191A>G) c.161A>G (p.Glu54Gly) c.56A>G (p.Glu19Gly) | |
3 | g.14129560A>T | CA351534470 | TMEM43 | c.*191A>T (n.*191A>T) c.161A>T (p.Glu54Val) c.56A>T (p.Glu19Val) | |
3 | g.14129561G>A | CA432551070 | TMEM43 | c.*192G>A (n.*192G>A) c.162G>A (p.Glu54=) c.57G>A (p.Glu19=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.14129561G>C | CA051939 | TMEM43 | c.*192G>C (n.*192G>C) c.162G>C (p.Glu54Asp) c.57G>C (p.Glu19Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.14129561G= | CA1346967922 | TMEM43 | c.*192G= (n.*192G=) c.162G= (p.Glu54=) c.57G= (p.Glu19=) | |
3 | g.14129561G>T | CA351534471 | TMEM43 | c.*192G>T (n.*192G>T) c.162G>T (p.Glu54Asp) c.57G>T (p.Glu19Asp) | |
3 | g.14129562G>A | CA351534473 | TMEM43 | c.*192+1G>A (n.*192+1G>A) c.162+1G>A (n.162+1G>A) c.57+1G>A (n.57+1G>A) | ClinVar dbSNP |
3 | g.14129562G>C | CA351534474 | TMEM43 | c.*192+1G>C (n.*192+1G>C) c.162+1G>C (n.162+1G>C) c.57+1G>C (n.57+1G>C) | |
3 | g.14129562G= | CA1346967923 | TMEM43 | c.*192+1G= (n.*192+1G=) c.162+1G= (n.162+1G=) c.57+1G= (n.57+1G=) | |
3 | g.14129562G>T | CA351534472 | TMEM43 | c.*192+1G>T (n.*192+1G>T) c.162+1G>T (n.162+1G>T) c.57+1G>T (n.57+1G>T) | |
3 | g.14129563T>A | CA351534476 | TMEM43 | c.*192+2T>A (n.*192+2T>A) c.162+2T>A (n.162+2T>A) c.57+2T>A (n.57+2T>A) | |
3 | g.14129563T>C | CA351534475 | TMEM43 | c.*192+2T>C (n.*192+2T>C) c.162+2T>C (n.162+2T>C) c.57+2T>C (n.57+2T>C) | |
3 | g.14129563T>G | CA351534477 | TMEM43 | c.*192+2T>G (n.*192+2T>G) c.162+2T>G (n.162+2T>G) c.57+2T>G (n.57+2T>G) | |
3 | g.14129565A= | CA1346967924 | TMEM43 | c.*192+4A= (n.*192+4A=) c.162+4A= (n.162+4A=) c.57+4A= (n.57+4A=) | |
3 | g.14129565A>C | CA1346967925 | TMEM43 | c.*192+4A>C (n.*192+4A>C) c.162+4A>C (n.162+4A>C) c.57+4A>C (n.57+4A>C) | dbSNP gnomAD v4 |
3 | g.14129565A>G | CA2664568581 | TMEM43 | c.*192+4A>G (n.*192+4A>G) c.162+4A>G (n.162+4A>G) c.57+4A>G (n.57+4A>G) | gnomAD v4 |
3 | g.14129568T>C | CA1045276776 | TMEM43 | c.*192+7T>C (n.*192+7T>C) c.162+7T>C (n.162+7T>C) c.57+7T>C (n.57+7T>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.14129568T= | CA1346967926 | TMEM43 | c.*192+7T= (n.*192+7T=) c.162+7T= (n.162+7T=) c.57+7T= (n.57+7T=) | |
3 | g.14129569G>A | CA2577516242 | TMEM43 | c.*192+8G>A (n.*192+8G>A) c.162+8G>A (n.162+8G>A) c.57+8G>A (n.57+8G>A) | gnomAD v4 |
3 | g.14129573G>A | CA1045276777 | TMEM43 | c.*192+12G>A (n.*192+12G>A) c.162+12G>A (n.162+12G>A) c.57+12G>A (n.57+12G>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.14129573G= | CA1346967927 | TMEM43 | c.*192+12G= (n.*192+12G=) c.162+12G= (n.162+12G=) c.57+12G= (n.57+12G=) | |
3 | g.14129574G>A | CA2664568582 | TMEM43 | c.*192+13G>A (n.*192+13G>A) c.162+13G>A (n.162+13G>A) c.57+13G>A (n.57+13G>A) | gnomAD v4 |
3 | g.14129574G>T | CA2755301038 | TMEM43 | c.*192+13G>T (n.*192+13G>T) c.162+13G>T (n.162+13G>T) c.57+13G>T (n.57+13G>T) | |
3 | g.14129576G>A | CA2664568583 | TMEM43 | c.*192+15G>A (n.*192+15G>A) c.162+15G>A (n.162+15G>A) c.57+15G>A (n.57+15G>A) | gnomAD v4 |
3 | g.14129576G>T | CA2664568584 | TMEM43 | c.*192+15G>T (n.*192+15G>T) c.162+15G>T (n.162+15G>T) c.57+15G>T (n.57+15G>T) | gnomAD v4 |
3 | g.14129577T>C | CA2664568585 | TMEM43 | c.*192+16T>C (n.*192+16T>C) c.162+16T>C (n.162+16T>C) c.57+16T>C (n.57+16T>C) | gnomAD v4 |
3 | g.14129578C>A | CA1346967929 | TMEM43 | c.*192+17C>A (n.*192+17C>A) c.162+17C>A (n.162+17C>A) c.57+17C>A (n.57+17C>A) | dbSNP |
3 | g.14129578C= | CA1346967928 | TMEM43 | c.*192+17C= (n.*192+17C=) c.162+17C= (n.162+17C=) c.57+17C= (n.57+17C=) | |
3 | g.14129578C>T | CA899776997 | TMEM43 | c.*192+17C>T (n.*192+17C>T) c.162+17C>T (n.162+17C>T) c.57+17C>T (n.57+17C>T) | ClinVar dbSNP |
3 | g.14129579T>C | CA541296103 | TMEM43 | c.*192+18T>C (n.*192+18T>C) c.162+18T>C (n.162+18T>C) c.57+18T>C (n.57+18T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14129579T= | CA1346967930 | TMEM43 | c.*192+18T= (n.*192+18T=) c.162+18T= (n.162+18T=) c.57+18T= (n.57+18T=) | |
3 | g.14129581C= | CA1346967931 | TMEM43 | c.*192+20C= (n.*192+20C=) c.162+20C= (n.162+20C=) c.57+20C= (n.57+20C=) | |
3 | g.14129581C>G | CA2664568586 | TMEM43 | c.*192+20C>G (n.*192+20C>G) c.162+20C>G (n.162+20C>G) c.57+20C>G (n.57+20C>G) | gnomAD v4 |
3 | g.14129581C>T | CA051893 | TMEM43 | c.*192+20C>T (n.*192+20C>T) c.162+20C>T (n.162+20C>T) c.57+20C>T (n.57+20C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.14129582del | CA2838407817 | TMEM43 | c.*192+21del (n.*192+21del) c.162+21del (n.162+21del) c.57+21del (n.57+21del) | |
3 | g.14129582C= | CA1346967932 | TMEM43 | c.*192+21C= (n.*192+21C=) c.162+21C= (n.162+21C=) c.57+21C= (n.57+21C=) | |
3 | g.14129582C>G | CA1045276779 | TMEM43 | c.*192+21C>G (n.*192+21C>G) c.162+21C>G (n.162+21C>G) c.57+21C>G (n.57+21C>G) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.14129582C>T | CA051898 | TMEM43 | c.*192+21C>T (n.*192+21C>T) c.162+21C>T (n.162+21C>T) c.57+21C>T (n.57+21C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14129585_14129586del | CA2838196128 | TMEM43 | c.*192+24_*192+25del (n.*192+24_*192+25del) c.162+24_162+25del (n.162+24_162+25del) c.57+24_57+25del (n.57+24_57+25del) | |
3 | g.14129588A= | CA1346967933 | TMEM43 | c.*192+27A= (n.*192+27A=) c.162+27A= (n.162+27A=) c.57+27A= (n.57+27A=) | |
3 | g.14129588A>C | CA051905 | TMEM43 | c.*192+27A>C (n.*192+27A>C) c.162+27A>C (n.162+27A>C) c.57+27A>C (n.57+27A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14129589G>A | CA2577516245 | TMEM43 | c.*192+28G>A (n.*192+28G>A) c.162+28G>A (n.162+28G>A) c.57+28G>A (n.57+28G>A) | gnomAD v4 |
3 | g.14129590A>G | CA2664568587 | TMEM43 | c.*192+29A>G (n.*192+29A>G) c.162+29A>G (n.162+29A>G) c.57+29A>G (n.57+29A>G) | gnomAD v4 |
3 | g.14129591G>A | CA051913 | TMEM43 | c.*192+30G>A (n.*192+30G>A) c.162+30G>A (n.162+30G>A) c.57+30G>A (n.57+30G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14129591G= | CA1346967934 | TMEM43 | c.*192+30G= (n.*192+30G=) c.162+30G= (n.162+30G=) c.57+30G= (n.57+30G=) | |
3 | g.14129593G>A | CA541296104 | TMEM43 | c.*192+32G>A (n.*192+32G>A) c.162+32G>A (n.162+32G>A) c.57+32G>A (n.57+32G>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.14129593G>C | CA051919 | TMEM43 | c.*192+32G>C (n.*192+32G>C) c.162+32G>C (n.162+32G>C) c.57+32G>C (n.57+32G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.14129593G= | CA1346967935 | TMEM43 | c.*192+32G= (n.*192+32G=) c.162+32G= (n.162+32G=) c.57+32G= (n.57+32G=) | |
3 | g.14129596A>T | CA2702106837 | TMEM43 | c.*192+35A>T (n.*192+35A>T) c.162+35A>T (n.162+35A>T) c.57+35A>T (n.57+35A>T) | dbSNP |
3 | g.14129602dup | CA2557443586 | TMEM43 | c.*192+41dup (n.*192+41dup) c.162+41dup (n.162+41dup) c.57+41dup (n.57+41dup) | |
3 | g.14129602del | CA2664568588 | TMEM43 | c.*192+41del (n.*192+41del) c.162+41del (n.162+41del) c.57+41del (n.57+41del) | gnomAD v4 |
3 | g.14129601C>T | CA2664568589 | TMEM43 | c.*192+40C>T (n.*192+40C>T) c.162+40C>T (n.162+40C>T) c.57+40C>T (n.57+40C>T) | gnomAD v4 |
3 | g.14129602C>T | CA2664568590 | TMEM43 | c.*192+41C>T (n.*192+41C>T) c.162+41C>T (n.162+41C>T) c.57+41C>T (n.57+41C>T) | gnomAD v4 |