Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.14130912G>ACA024638TMEM43c.*283G>A (n.*283G>A)
c.253G>A (p.Glu85Lys)
c.148G>A (p.Glu50Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.14130912G>CCA351534660TMEM43c.*283G>C (n.*283G>C)
c.253G>C (p.Glu85Gln)
c.148G>C (p.Glu50Gln)
3g.14130912G=CA1346968617TMEM43c.*283G= (n.*283G=)
c.253G= (p.Glu85=)
c.148G= (p.Glu50=)
3g.14130912G>TCA351534659TMEM43c.*283G>T (n.*283G>T)
c.253G>T (p.Glu85Ter)
c.148G>T (p.Glu50Ter)
3g.14130917_14130920delCA2580614145TMEM43c.*288_*291del (n.*288_*291del)
c.258_261del (p.Arg87TrpfsTer26)
c.153_156del (p.Arg52TrpfsTer26)
 gnomAD v4
3g.14130913A=CA1346968618TMEM43c.*284A= (n.*284A=)
c.254A= (p.Glu85=)
c.149A= (p.Glu50=)
3g.14130913A>CCA351534661TMEM43c.*284A>C (n.*284A>C)
c.254A>C (p.Glu85Ala)
c.149A>C (p.Glu50Ala)
3g.14130913A>GCA351534662TMEM43c.*284A>G (n.*284A>G)
c.254A>G (p.Glu85Gly)
c.149A>G (p.Glu50Gly)
3g.14130913A>TCA351534663TMEM43c.*284A>T (n.*284A>T)
c.254A>T (p.Glu85Val)
c.149A>T (p.Glu50Val)
3g.14130914A>CCA351534664TMEM43c.*285A>C (n.*285A>C)
c.255A>C (p.Glu85Asp)
c.150A>C (p.Glu50Asp)
3g.14130914A>GCA432551140TMEM43c.*285A>G (n.*285A>G)
c.255A>G (p.Glu85=)
c.150A>G (p.Glu50=)
3g.14130914A>TCA351534665TMEM43c.*285A>T (n.*285A>T)
c.255A>T (p.Glu85Asp)
c.150A>T (p.Glu50Asp)
3g.14130914_14130915dupCA1045277188TMEM43c.*285_*286dup (n.*285_*286dup)
c.255_256dup (p.Gly86GlufsTer29)
c.150_151dup (p.Gly51GlufsTer29)
 dbSNP gnomAD v3 gnomAD v4
3g.14130915G>ACA351534666TMEM43c.*286G>A (n.*286G>A)
c.256G>A (p.Gly86Arg)
c.151G>A (p.Gly51Arg)
 gnomAD v4
3g.14130915G>CCA351534667TMEM43c.*286G>C (n.*286G>C)
c.256G>C (p.Gly86Arg)
c.151G>C (p.Gly51Arg)
3g.14130915G>TCA351534668TMEM43c.*286G>T (n.*286G>T)
c.256G>T (p.Gly86Ter)
c.151G>T (p.Gly51Ter)
3g.14130916G>ACA052397TMEM43c.*287G>A (n.*287G>A)
c.257G>A (p.Gly86Glu)
c.152G>A (p.Gly51Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.14130916G>CCA351534669TMEM43c.*287G>C (n.*287G>C)
c.257G>C (p.Gly86Ala)
c.152G>C (p.Gly51Ala)
3g.14130916G=CA1346968619TMEM43c.*287G= (n.*287G=)
c.257G= (p.Gly86=)
c.152G= (p.Gly51=)
3g.14130916G>TCA351534670TMEM43c.*287G>T (n.*287G>T)
c.257G>T (p.Gly86Val)
c.152G>T (p.Gly51Val)
3g.14130916_14130917insTTTGTTTGTTTCTTTCTTTCTCTCCCTCTCTCTTTCTTTTTCTCCTTTTTTTTAATAGGGCCTCATGATGCAACAGTCA916838752TMEM43c.*287_*288insTTTGTTTGTTTCTTTCTTTCTCTCCCTCTCTCTTTCTTTTTCTCCTTTTTTTTAATAGGGCCTCATGATGCAACAGT (n.*287_*288insTTTGTTTGTTTCTTTCTTTCTCTCCCTCTCTCTTTCTTTTTCTCCTTTTTTTTAATAGGGCCTCATGATGCAACAGT)
c.257_258insTTTGTTTGTTTCTTTCTTTCTCTCCCTCTCTCTTTCTTTTTCTCCTTTTTTTTAATAGGGCCTCATGATGCAACAGT (p.Arg87LeufsTer18)
c.152_153insTTTGTTTGTTTCTTTCTTTCTCTCCCTCTCTCTTTCTTTTTCTCCTTTTTTTTAATAGGGCCTCATGATGCAACAGT (p.Arg52LeufsTer18)
 dbSNP
3g.14130917A=CA1346968620TMEM43c.*288A= (n.*288A=)
c.258A= (p.Gly86=)
c.153A= (p.Gly51=)
3g.14130917A>CCA432551141TMEM43c.*288A>C (n.*288A>C)
c.258A>C (p.Gly86=)
c.153A>C (p.Gly51=)
 dbSNP
3g.14130917A>GCA432551142TMEM43c.*288A>G (n.*288A>G)
c.258A>G (p.Gly86=)
c.153A>G (p.Gly51=)
3g.14130917A>TCA432551143TMEM43c.*288A>T (n.*288A>T)
c.258A>T (p.Gly86=)
c.153A>T (p.Gly51=)
3g.14130918A>CCA432551144TMEM43c.*289A>C (n.*289A>C)
c.259A>C (p.Arg87=)
c.154A>C (p.Arg52=)
3g.14130918A>GCA351534671TMEM43c.*289A>G (n.*289A>G)
c.259A>G (p.Arg87Gly)
c.154A>G (p.Arg52Gly)
3g.14130918A>TCA351534672TMEM43c.*289A>T (n.*289A>T)
c.259A>T (p.Arg87Trp)
c.154A>T (p.Arg52Trp)
3g.14130919G>ACA351534674TMEM43c.*290G>A (n.*290G>A)
c.260G>A (p.Arg87Lys)
c.155G>A (p.Arg52Lys)
 gnomAD v4
3g.14130919G>CCA351534675TMEM43c.*290G>C (n.*290G>C)
c.260G>C (p.Arg87Thr)
c.155G>C (p.Arg52Thr)
3g.14130919G>TCA351534673TMEM43c.*290G>T (n.*290G>T)
c.260G>T (p.Arg87Met)
c.155G>T (p.Arg52Met)
3g.14130920G>ACA432551145TMEM43c.*291G>A (n.*291G>A)
c.261G>A (p.Arg87=)
c.156G>A (p.Arg52=)
 dbSNP gnomAD v2 gnomAD v4
3g.14130920G>CCA351534676TMEM43c.*291G>C (n.*291G>C)
c.261G>C (p.Arg87Ser)
c.156G>C (p.Arg52Ser)
3g.14130920G=CA1346968621TMEM43c.*291G= (n.*291G=)
c.261G= (p.Arg87=)
c.156G= (p.Arg52=)
3g.14130920G>TCA351534677TMEM43c.*291G>T (n.*291G>T)
c.261G>T (p.Arg87Ser)
c.156G>T (p.Arg52Ser)
3g.14130921C>ACA351534678TMEM43c.*292C>A (n.*292C>A)
c.262C>A (p.Leu88Met)
c.157C>A (p.Leu53Met)
3g.14130921C>GCA351534679TMEM43c.*292C>G (n.*292C>G)
c.262C>G (p.Leu88Val)
c.157C>G (p.Leu53Val)
3g.14130921C>TCA432551146TMEM43c.*292C>T (n.*292C>T)
c.262C>T (p.Leu88=)
c.157C>T (p.Leu53=)
3g.14130922T>ACA351534680TMEM43c.*293T>A (n.*293T>A)
c.263T>A (p.Leu88Gln)
c.158T>A (p.Leu53Gln)
3g.14130922T>CCA351534681TMEM43c.*293T>C (n.*293T>C)
c.263T>C (p.Leu88Pro)
c.158T>C (p.Leu53Pro)
3g.14130922T>GCA351534682TMEM43c.*293T>G (n.*293T>G)
c.263T>G (p.Leu88Arg)
c.158T>G (p.Leu53Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.14130922T=CA1346968622TMEM43c.*293T= (n.*293T=)
c.263T= (p.Leu88=)
c.158T= (p.Leu53=)
3g.14130923G>ACA432551147TMEM43c.*294G>A (n.*294G>A)
c.264G>A (p.Leu88=)
c.159G>A (p.Leu53=)
3g.14130923G>CCA432551148TMEM43c.*294G>C (n.*294G>C)
c.264G>C (p.Leu88=)
c.159G>C (p.Leu53=)
3g.14130923G>TCA432551149TMEM43c.*294G>T (n.*294G>T)
c.264G>T (p.Leu88=)
c.159G>T (p.Leu53=)
3g.14130924G>ACA052413TMEM43c.*295G>A (n.*295G>A)
c.265G>A (p.Val89Met)
c.160G>A (p.Val54Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14130924G>CCA052426TMEM43c.*295G>C (n.*295G>C)
c.265G>C (p.Val89Leu)
c.160G>C (p.Val54Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.14130924G=CA1346968623TMEM43c.*295G= (n.*295G=)
c.265G= (p.Val89=)
c.160G= (p.Val54=)
3g.14130924G>TCA351534683TMEM43c.*295G>T (n.*295G>T)
c.265G>T (p.Val89Leu)
c.160G>T (p.Val54Leu)
3g.14130925T>ACA351534684TMEM43c.*296T>A (n.*296T>A)
c.266T>A (p.Val89Glu)
c.161T>A (p.Val54Glu)

Number of alleles fetched