Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.14130917_14130920del | CA2580614145 | TMEM43 | c.*288_*291del (n.*288_*291del) c.258_261del (p.Arg87TrpfsTer26) c.153_156del (p.Arg52TrpfsTer26) | ClinVar gnomAD v4 |
3 | g.14130916G>A | CA052397 | TMEM43 | c.*287G>A (n.*287G>A) c.257G>A (p.Gly86Glu) c.152G>A (p.Gly51Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.14130916G>C | CA351534669 | TMEM43 | c.*287G>C (n.*287G>C) c.257G>C (p.Gly86Ala) c.152G>C (p.Gly51Ala) | |
3 | g.14130916G= | CA1346968619 | TMEM43 | c.*287G= (n.*287G=) c.257G= (p.Gly86=) c.152G= (p.Gly51=) | |
3 | g.14130916G>T | CA351534670 | TMEM43 | c.*287G>T (n.*287G>T) c.257G>T (p.Gly86Val) c.152G>T (p.Gly51Val) | |
3 | g.14130916_14130917insTTTGTTTGTTTCTTTCTTTCTCTCCCTCTCTCTTTCTTTTTCTCCTTTTTTTTAATAGGGCCTCATGATGCAACAGT | CA916838752 | TMEM43 | c.*287_*288insTTTGTTTGTTTCTTTCTTTCTCTCCCTCTCTCTTTCTTTTTCTCCTTTTTTTTAATAGGGCCTCATGATGCAACAGT (n.*287_*288insTTTGTTTGTTTCTTTCTTTCTCTCCCTCTCTCTTTCTTTTTCTCCTTTTTTTTAATAGGGCCTCATGATGCAACAGT) c.257_258insTTTGTTTGTTTCTTTCTTTCTCTCCCTCTCTCTTTCTTTTTCTCCTTTTTTTTAATAGGGCCTCATGATGCAACAGT (p.Arg87LeufsTer18) c.152_153insTTTGTTTGTTTCTTTCTTTCTCTCCCTCTCTCTTTCTTTTTCTCCTTTTTTTTAATAGGGCCTCATGATGCAACAGT (p.Arg52LeufsTer18) | dbSNP |
3 | g.14130917A= | CA1346968620 | TMEM43 | c.*288A= (n.*288A=) c.258A= (p.Gly86=) c.153A= (p.Gly51=) | |
3 | g.14130917A>C | CA432551141 | TMEM43 | c.*288A>C (n.*288A>C) c.258A>C (p.Gly86=) c.153A>C (p.Gly51=) | dbSNP |
3 | g.14130917A>G | CA432551142 | TMEM43 | c.*288A>G (n.*288A>G) c.258A>G (p.Gly86=) c.153A>G (p.Gly51=) | |
3 | g.14130917A>T | CA432551143 | TMEM43 | c.*288A>T (n.*288A>T) c.258A>T (p.Gly86=) c.153A>T (p.Gly51=) | |
3 | g.14130918A>C | CA432551144 | TMEM43 | c.*289A>C (n.*289A>C) c.259A>C (p.Arg87=) c.154A>C (p.Arg52=) | |
3 | g.14130918A>G | CA351534671 | TMEM43 | c.*289A>G (n.*289A>G) c.259A>G (p.Arg87Gly) c.154A>G (p.Arg52Gly) | |
3 | g.14130918A>T | CA351534672 | TMEM43 | c.*289A>T (n.*289A>T) c.259A>T (p.Arg87Trp) c.154A>T (p.Arg52Trp) | |
3 | g.14130919G>A | CA351534674 | TMEM43 | c.*290G>A (n.*290G>A) c.260G>A (p.Arg87Lys) c.155G>A (p.Arg52Lys) | gnomAD v4 |
3 | g.14130919G>C | CA351534675 | TMEM43 | c.*290G>C (n.*290G>C) c.260G>C (p.Arg87Thr) c.155G>C (p.Arg52Thr) | |
3 | g.14130919G>T | CA351534673 | TMEM43 | c.*290G>T (n.*290G>T) c.260G>T (p.Arg87Met) c.155G>T (p.Arg52Met) | |
3 | g.14130920G>A | CA432551145 | TMEM43 | c.*291G>A (n.*291G>A) c.261G>A (p.Arg87=) c.156G>A (p.Arg52=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.14130920G>C | CA351534676 | TMEM43 | c.*291G>C (n.*291G>C) c.261G>C (p.Arg87Ser) c.156G>C (p.Arg52Ser) | |
3 | g.14130920G= | CA1346968621 | TMEM43 | c.*291G= (n.*291G=) c.261G= (p.Arg87=) c.156G= (p.Arg52=) | |
3 | g.14130920G>T | CA351534677 | TMEM43 | c.*291G>T (n.*291G>T) c.261G>T (p.Arg87Ser) c.156G>T (p.Arg52Ser) | |
3 | g.14130921C>A | CA351534678 | TMEM43 | c.*292C>A (n.*292C>A) c.262C>A (p.Leu88Met) c.157C>A (p.Leu53Met) | |
3 | g.14130921C>G | CA351534679 | TMEM43 | c.*292C>G (n.*292C>G) c.262C>G (p.Leu88Val) c.157C>G (p.Leu53Val) | |
3 | g.14130921C>T | CA432551146 | TMEM43 | c.*292C>T (n.*292C>T) c.262C>T (p.Leu88=) c.157C>T (p.Leu53=) | |
3 | g.14130922T>A | CA351534680 | TMEM43 | c.*293T>A (n.*293T>A) c.263T>A (p.Leu88Gln) c.158T>A (p.Leu53Gln) | |
3 | g.14130922T>C | CA351534681 | TMEM43 | c.*293T>C (n.*293T>C) c.263T>C (p.Leu88Pro) c.158T>C (p.Leu53Pro) | |
3 | g.14130922T>G | CA351534682 | TMEM43 | c.*293T>G (n.*293T>G) c.263T>G (p.Leu88Arg) c.158T>G (p.Leu53Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14130922T= | CA1346968622 | TMEM43 | c.*293T= (n.*293T=) c.263T= (p.Leu88=) c.158T= (p.Leu53=) | |
3 | g.14130923G>A | CA432551147 | TMEM43 | c.*294G>A (n.*294G>A) c.264G>A (p.Leu88=) c.159G>A (p.Leu53=) | |
3 | g.14130923G>C | CA432551148 | TMEM43 | c.*294G>C (n.*294G>C) c.264G>C (p.Leu88=) c.159G>C (p.Leu53=) | |
3 | g.14130923G>T | CA432551149 | TMEM43 | c.*294G>T (n.*294G>T) c.264G>T (p.Leu88=) c.159G>T (p.Leu53=) | |
3 | g.14130924G>A | CA052413 | TMEM43 | c.*295G>A (n.*295G>A) c.265G>A (p.Val89Met) c.160G>A (p.Val54Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14130924G>C | CA052426 | TMEM43 | c.*295G>C (n.*295G>C) c.265G>C (p.Val89Leu) c.160G>C (p.Val54Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14130924G= | CA1346968623 | TMEM43 | c.*295G= (n.*295G=) c.265G= (p.Val89=) c.160G= (p.Val54=) | |
3 | g.14130924G>T | CA351534683 | TMEM43 | c.*295G>T (n.*295G>T) c.265G>T (p.Val89Leu) c.160G>T (p.Val54Leu) | |
3 | g.14130925T>A | CA351534684 | TMEM43 | c.*296T>A (n.*296T>A) c.266T>A (p.Val89Glu) c.161T>A (p.Val54Glu) | |
3 | g.14130925T>C | CA351534685 | TMEM43 | c.*296T>C (n.*296T>C) c.266T>C (p.Val89Ala) c.161T>C (p.Val54Ala) | |
3 | g.14130925T>G | CA351534686 | TMEM43 | c.*296T>G (n.*296T>G) c.266T>G (p.Val89Gly) c.161T>G (p.Val54Gly) | dbSNP |
3 | g.14130925T= | CA1346968624 | TMEM43 | c.*296T= (n.*296T=) c.266T= (p.Val89=) c.161T= (p.Val54=) | |
3 | g.14130926G>A | CA052440 | TMEM43 | c.*297G>A (n.*297G>A) c.267G>A (p.Val89=) c.162G>A (p.Val54=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14130926G>C | CA432551150 | TMEM43 | c.*297G>C (n.*297G>C) c.267G>C (p.Val89=) c.162G>C (p.Val54=) | |
3 | g.14130926G= | CA1346968625 | TMEM43 | c.*297G= (n.*297G=) c.267G= (p.Val89=) c.162G= (p.Val54=) | |
3 | g.14130926G>T | CA432551151 | TMEM43 | c.*297G>T (n.*297G>T) c.267G>T (p.Val89=) c.162G>T (p.Val54=) | |
3 | g.14130926_14130929delinsGCAC | CA1346968626 | TMEM43 | c.*297_*300delinsGCAC (n.*297_*300delinsGCAC) c.267_270delinsGCAC (p.Val89=) c.162_165delinsGCAC (p.Val54=) | |
3 | g.14130927C>A | CA351534689 | TMEM43 | c.*298C>A (n.*298C>A) c.268C>A (p.His90Asn) c.163C>A (p.His55Asn) | |
3 | g.14130927C= | CA1346968627 | TMEM43 | c.*298C= (n.*298C=) c.268C= (p.His90=) c.163C= (p.His55=) | |
3 | g.14130927C>G | CA351534687 | TMEM43 | c.*298C>G (n.*298C>G) c.268C>G (p.His90Asp) c.163C>G (p.His55Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.14130927C>T | CA351534688 | TMEM43 | c.*298C>T (n.*298C>T) c.268C>T (p.His90Tyr) c.163C>T (p.His55Tyr) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.14130927_14130929del | CA541296240 | TMEM43 | c.*298_*300del (n.*298_*300del) c.268_270del (p.His90del) c.163_165del (p.His55del) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.14130928A= | CA1346968628 | TMEM43 | c.*299A= (n.*299A=) c.269A= (p.His90=) c.164A= (p.His55=) | |
3 | g.14130928A>C | CA351534690 | TMEM43 | c.*299A>C (n.*299A>C) c.269A>C (p.His90Pro) c.164A>C (p.His55Pro) |