Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.14130813T>ACA2664568759TMEM43c.*193-9T>A (n.*193-9T>A)
c.163-9T>A (n.163-9T>A)
c.58-9T>A (n.58-9T>A)
gnomAD v4
3g.14130815C=CA1346968550TMEM43c.*193-7C= (n.*193-7C=)
c.163-7C= (n.163-7C=)
c.58-7C= (n.58-7C=)
3g.14130815C>TCA052020TMEM43c.*193-7C>T (n.*193-7C>T)
c.163-7C>T (n.163-7C>T)
c.58-7C>T (n.58-7C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.14130816_14130817delCA052006TMEM43c.*193-6_*193-5del (n.*193-6_*193-5del)
c.163-6_163-5del (n.163-6_163-5del)
c.58-6_58-5del (n.58-6_58-5del)
3g.14130816T>ACA2266934TMEM43c.*193-6T>A (n.*193-6T>A)
c.163-6T>A (n.163-6T>A)
c.58-6T>A (n.58-6T>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14130816T>CCA69728962TMEM43c.*193-6T>C (n.*193-6T>C)
c.163-6T>C (n.163-6T>C)
c.58-6T>C (n.58-6T>C)
dbSNP
3g.14130816T=CA1346968552TMEM43c.*193-6T= (n.*193-6T=)
c.163-6T= (n.163-6T=)
c.58-6T= (n.58-6T=)
3g.14130816_14130817delinsTCCA1346968551TMEM43c.*193-6_*193-5delinsTC (n.*193-6_*193-5delinsTC)
c.163-6_163-5delinsTC (n.163-6_163-5delinsTC)
c.58-6_58-5delinsTC (n.58-6_58-5delinsTC)
3g.14130817C>ACA1346968554TMEM43c.*193-5C>A (n.*193-5C>A)
c.163-5C>A (n.163-5C>A)
c.58-5C>A (n.58-5C>A)
dbSNP
3g.14130817C=CA1346968553TMEM43c.*193-5C= (n.*193-5C=)
c.163-5C= (n.163-5C=)
c.58-5C= (n.58-5C=)
3g.14130819delCA024611TMEM43c.*193-3del (n.*193-3del)
c.163-3del (n.163-3del)
c.58-3del (n.58-3del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14130818_14130819insGCTAGATCTATTCTCTCTAGCTAACGCATTGGCTTGATATTCTTTTTCGATTGCATCAAGTTCAGACTTACTATATTTGCCTTGCTCAGAAAGCCGTTTAATATATTTTTCTGTTTCTCCCGCTGCTCTTTCA2504929286TMEM43c.*193-4_*193-3insGCTAGATCTATTCTCTCTAGCTAACGCATTGGCTTGATATTCTTTTTCGATTGCATCAAGTTCAGACTTACTATATTTGCCTTGCTCAGAAAGCCGTTTAATATATTTTTCTGTTTCTCCCGCTGCTCTTT (n.*193-4_*193-3insGCTAGATCTATTCTCTCTAGCTAACGCATTGGCTTGATATTCTTTTTCGATTGCATCAAGTTCAGACTTACTATATTTGCCTTGCTCAGAAAGCCGTTTAATATATTTTTCTGTTTCTCCCGCTGCTCTTT)
c.163-4_163-3insGCTAGATCTATTCTCTCTAGCTAACGCATTGGCTTGATATTCTTTTTCGATTGCATCAAGTTCAGACTTACTATATTTGCCTTGCTCAGAAAGCCGTTTAATATATTTTTCTGTTTCTCCCGCTGCTCTTT (n.163-4_163-3insGCTAGATCTATTCTCTCTAGCTAACGCATTGGCTTGATATTCTTTTTCGATTGCATCAAGTTCAGACTTACTATATTTGCCTTGCTCAGAAAGCCGTTTAATATATTTTTCTGTTTCTCCCGCTGCTCTTT)
c.58-4_58-3insGCTAGATCTATTCTCTCTAGCTAACGCATTGGCTTGATATTCTTTTTCGATTGCATCAAGTTCAGACTTACTATATTTGCCTTGCTCAGAAAGCCGTTTAATATATTTTTCTGTTTCTCCCGCTGCTCTTT (n.58-4_58-3insGCTAGATCTATTCTCTCTAGCTAACGCATTGGCTTGATATTCTTTTTCGATTGCATCAAGTTCAGACTTACTATATTTGCCTTGCTCAGAAAGCCGTTTAATATATTTTTCTGTTTCTCCCGCTGCTCTTT)
3g.14130819C=CA1346968555TMEM43c.*193-3C= (n.*193-3C=)
c.163-3C= (n.163-3C=)
c.58-3C= (n.58-3C=)
3g.14130819C>TCA69728967TMEM43c.*193-3C>T (n.*193-3C>T)
c.163-3C>T (n.163-3C>T)
c.58-3C>T (n.58-3C>T)
dbSNP
3g.14130820A=CA1346968556TMEM43c.*193-2A= (n.*193-2A=)
c.163-2A= (n.163-2A=)
c.58-2A= (n.58-2A=)
3g.14130820A>CCA351534478TMEM43c.*193-2A>C (n.*193-2A>C)
c.163-2A>C (n.163-2A>C)
c.58-2A>C (n.58-2A>C)
3g.14130820A>GCA051997TMEM43c.*193-2A>G (n.*193-2A>G)
c.163-2A>G (n.163-2A>G)
c.58-2A>G (n.58-2A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.14130820A>TCA351534479TMEM43c.*193-2A>T (n.*193-2A>T)
c.163-2A>T (n.163-2A>T)
c.58-2A>T (n.58-2A>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.14130821G>ACA351534481TMEM43c.*193-1G>A (n.*193-1G>A)
c.163-1G>A (n.163-1G>A)
c.58-1G>A (n.58-1G>A)
3g.14130821G>CCA16609719TMEM43c.*193-1G>C (n.*193-1G>C)
c.163-1G>C (n.163-1G>C)
c.58-1G>C (n.58-1G>C)
ClinVar dbSNP gnomAD v4
3g.14130821G=CA1346968557TMEM43c.*193-1G= (n.*193-1G=)
c.163-1G= (n.163-1G=)
c.58-1G= (n.58-1G=)
3g.14130821G>TCA351534480TMEM43c.*193-1G>T (n.*193-1G>T)
c.163-1G>T (n.163-1G>T)
c.58-1G>T (n.58-1G>T)
3g.14130822G>ACA351534482TMEM43c.*193G>A (n.*193G>A)
c.163G>A (p.Gly55Ser)
c.58G>A (p.Gly20Ser)
dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.14130822G>CCA351534483TMEM43c.*193G>C (n.*193G>C)
c.163G>C (p.Gly55Arg)
c.58G>C (p.Gly20Arg)
3g.14130822G=CA1346968558TMEM43c.*193G= (n.*193G=)
c.163G= (p.Gly55=)
c.58G= (p.Gly20=)
3g.14130822G>TCA351534484TMEM43c.*193G>T (n.*193G>T)
c.163G>T (p.Gly55Cys)
c.58G>T (p.Gly20Cys)
3g.14130823G>ACA024614TMEM43c.*194G>A (n.*194G>A)
c.164G>A (p.Gly55Asp)
c.59G>A (p.Gly20Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14130823G>CCA351534485TMEM43c.*194G>C (n.*194G>C)
c.164G>C (p.Gly55Ala)
c.59G>C (p.Gly20Ala)
3g.14130823G=CA1346968559TMEM43c.*194G= (n.*194G=)
c.164G= (p.Gly55=)
c.59G= (p.Gly20=)
3g.14130823G>TCA351534486TMEM43c.*194G>T (n.*194G>T)
c.164G>T (p.Gly55Val)
c.59G>T (p.Gly20Val)
3g.14130824C>ACA432551078TMEM43c.*195C>A (n.*195C>A)
c.165C>A (p.Gly55=)
c.60C>A (p.Gly20=)
3g.14130824C=CA1346968560TMEM43c.*195C= (n.*195C=)
c.165C= (p.Gly55=)
c.60C= (p.Gly20=)
3g.14130824C>GCA432551079TMEM43c.*195C>G (n.*195C>G)
c.165C>G (p.Gly55=)
c.60C>G (p.Gly20=)
dbSNP gnomAD v4
3g.14130824C>TCA432551080TMEM43c.*195C>T (n.*195C>T)
c.165C>T (p.Gly55=)
c.60C>T (p.Gly20=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.14130825C>ACA351534487TMEM43c.*196C>A (n.*196C>A)
c.166C>A (p.Arg56Ser)
c.61C>A (p.Arg21Ser)
3g.14130825C=CA1346968561TMEM43c.*196C= (n.*196C=)
c.166C= (p.Arg56=)
c.61C= (p.Arg21=)
3g.14130825C>GCA351534488TMEM43c.*196C>G (n.*196C>G)
c.166C>G (p.Arg56Gly)
c.61C>G (p.Arg21Gly)
3g.14130825C>TCA052036TMEM43c.*196C>T (n.*196C>T)
c.166C>T (p.Arg56Cys)
c.61C>T (p.Arg21Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14130826G>ACA052046TMEM43c.*197G>A (n.*197G>A)
c.167G>A (p.Arg56His)
c.62G>A (p.Arg21His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14130826G>CCA351534489TMEM43c.*197G>C (n.*197G>C)
c.167G>C (p.Arg56Pro)
c.62G>C (p.Arg21Pro)
3g.14130826G=CA1346968562TMEM43c.*197G= (n.*197G=)
c.167G= (p.Arg56=)
c.62G= (p.Arg21=)
3g.14130826G>TCA351534490TMEM43c.*197G>T (n.*197G>T)
c.167G>T (p.Arg56Leu)
c.62G>T (p.Arg21Leu)
3g.14130827C>ACA432551081TMEM43c.*198C>A (n.*198C>A)
c.168C>A (p.Arg56=)
c.63C>A (p.Arg21=)
3g.14130827C=CA1346968563TMEM43c.*198C= (n.*198C=)
c.168C= (p.Arg56=)
c.63C= (p.Arg21=)
3g.14130827C>GCA432551082TMEM43c.*198C>G (n.*198C>G)
c.168C>G (p.Arg56=)
c.63C>G (p.Arg21=)
3g.14130827C>TCA052055TMEM43c.*198C>T (n.*198C>T)
c.168C>T (p.Arg56=)
c.63C>T (p.Arg21=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.14130828G>ACA024618TMEM43c.*199G>A (n.*199G>A)
c.169G>A (p.Ala57Thr)
c.64G>A (p.Ala22Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14130828G>CCA351534491TMEM43c.*199G>C (n.*199G>C)
c.169G>C (p.Ala57Pro)
c.64G>C (p.Ala22Pro)
gnomAD v4
3g.14130828G=CA1346968564TMEM43c.*199G= (n.*199G=)
c.169G= (p.Ala57=)
c.64G= (p.Ala22=)
3g.14130828G>TCA052070TMEM43c.*199G>T (n.*199G>T)
c.169G>T (p.Ala57Ser)
c.64G>T (p.Ala22Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched