| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.67184749C>A | CA392956746 | SMAD3 | c.309C>A (p.Tyr103Ter) c.579C>A (p.Tyr193Ter) c.894C>A (p.Tyr298Ter) n.597C>A c.762C>A (p.Tyr254Ter) c.557-2616C>A (n.557-2616C>A) n.283-8124C>A c.747C>A (p.Tyr249Ter) | |
| 15 | g.67184749C>G | CA392956749 | SMAD3 | c.309C>G (p.Tyr103Ter) c.579C>G (p.Tyr193Ter) c.894C>G (p.Tyr298Ter) n.597C>G c.762C>G (p.Tyr254Ter) c.557-2616C>G (n.557-2616C>G) n.283-8124C>G c.747C>G (p.Tyr249Ter) | |
| 15 | g.67184749C>T | CA490916453 | SMAD3 | c.309C>T (p.Tyr103=) c.579C>T (p.Tyr193=) c.894C>T (p.Tyr298=) n.597C>T c.762C>T (p.Tyr254=) c.557-2616C>T (n.557-2616C>T) n.283-8124C>T c.747C>T (p.Tyr249=) | gnomAD v4 |
| 15 | g.67184750A>C | CA392956752 | SMAD3 | c.310A>C (p.Ile104Leu) c.580A>C (p.Ile194Leu) c.895A>C (p.Ile299Leu) n.598A>C c.763A>C (p.Ile255Leu) c.557-2615A>C (n.557-2615A>C) n.283-8123A>C c.748A>C (p.Ile250Leu) | |
| 15 | g.67184750A>G | CA392956755 | SMAD3 | c.310A>G (p.Ile104Val) c.580A>G (p.Ile194Val) c.895A>G (p.Ile299Val) n.598A>G c.763A>G (p.Ile255Val) c.557-2615A>G (n.557-2615A>G) n.283-8123A>G c.748A>G (p.Ile250Val) | gnomAD v4 |
| 15 | g.67184750A>T | CA392956757 | SMAD3 | c.310A>T (p.Ile104Phe) c.580A>T (p.Ile194Phe) c.895A>T (p.Ile299Phe) n.598A>T c.763A>T (p.Ile255Phe) c.557-2615A>T (n.557-2615A>T) n.283-8123A>T c.748A>T (p.Ile250Phe) | |
| 15 | g.67184751T>A | CA392956760 | SMAD3 | c.311T>A (p.Ile104Asn) c.581T>A (p.Ile194Asn) c.896T>A (p.Ile299Asn) n.599T>A c.764T>A (p.Ile255Asn) c.557-2614T>A (n.557-2614T>A) n.283-8122T>A c.749T>A (p.Ile250Asn) | |
| 15 | g.67184751T>C | CA392956763 | SMAD3 | c.311T>C (p.Ile104Thr) c.581T>C (p.Ile194Thr) c.896T>C (p.Ile299Thr) n.599T>C c.764T>C (p.Ile255Thr) c.557-2614T>C (n.557-2614T>C) n.283-8122T>C c.749T>C (p.Ile250Thr) | |
| 15 | g.67184751T>G | CA392956765 | SMAD3 | c.311T>G (p.Ile104Ser) c.581T>G (p.Ile194Ser) c.896T>G (p.Ile299Ser) n.599T>G c.764T>G (p.Ile255Ser) c.557-2614T>G (n.557-2614T>G) n.283-8122T>G c.749T>G (p.Ile250Ser) | |
| 15 | g.67184752C>A | CA490916454 | SMAD3 | c.312C>A (p.Ile104=) c.582C>A (p.Ile194=) c.897C>A (p.Ile299=) n.600C>A c.765C>A (p.Ile255=) c.557-2613C>A (n.557-2613C>A) n.283-8121C>A c.750C>A (p.Ile250=) | |
| 15 | g.67184752C= | CA2184419186 | SMAD3 | c.312C= (p.Ile104=) c.582C= (p.Ile194=) c.897C= (p.Ile299=) n.600C= c.765C= (p.Ile255=) c.557-2613C= (n.557-2613C=) n.283-8121C= c.750C= (p.Ile250=) | |
| 15 | g.67184752C>G | CA392956768 | SMAD3 | c.312C>G (p.Ile104Met) c.582C>G (p.Ile194Met) c.897C>G (p.Ile299Met) n.600C>G c.765C>G (p.Ile255Met) c.557-2613C>G (n.557-2613C>G) n.283-8121C>G c.750C>G (p.Ile250Met) | ClinVar |
| 15 | g.67184752C>T | CA062835 | SMAD3 | c.312C>T (p.Ile104=) c.582C>T (p.Ile194=) c.897C>T (p.Ile299=) n.600C>T c.765C>T (p.Ile255=) c.557-2613C>T (n.557-2613C>T) n.283-8121C>T c.750C>T (p.Ile250=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.67184753G>A | CA392956776 | SMAD3 | c.313G>A (p.Gly105Arg) c.583G>A (p.Gly195Arg) c.898G>A (p.Gly300Arg) n.601G>A c.766G>A (p.Gly256Arg) c.557-2612G>A (n.557-2612G>A) n.283-8120G>A c.751G>A (p.Gly251Arg) | dbSNP gnomAD v4 |
| 15 | g.67184753G>C | CA392956773 | SMAD3 | c.313G>C (p.Gly105Arg) c.583G>C (p.Gly195Arg) c.898G>C (p.Gly300Arg) n.601G>C c.766G>C (p.Gly256Arg) c.557-2612G>C (n.557-2612G>C) n.283-8120G>C c.751G>C (p.Gly251Arg) | |
| 15 | g.67184753G= | CA2184419191 | SMAD3 | c.313G= (p.Gly105=) c.583G= (p.Gly195=) c.898G= (p.Gly300=) n.601G= c.766G= (p.Gly256=) c.557-2612G= (n.557-2612G=) n.283-8120G= c.751G= (p.Gly251=) | |
| 15 | g.67184753G>T | CA392956771 | SMAD3 | c.313G>T (p.Gly105Ter) c.583G>T (p.Gly195Ter) c.898G>T (p.Gly300Ter) n.601G>T c.766G>T (p.Gly256Ter) c.557-2612G>T (n.557-2612G>T) n.283-8120G>T c.751G>T (p.Gly251Ter) | |
| 15 | g.67184755_67184757dup | CA2825002298 | SMAD3 | c.315_317dup (p.Gly106_Glu107insGly) c.585_587dup (p.Gly196_Glu197insGly) c.900_902dup (p.Gly301_Glu302insGly) n.603_605dup c.768_770dup (p.Gly257_Glu258insGly) c.557-2610_557-2608dup (n.557-2610_557-2608dup) n.283-8118_283-8116dup c.753_755dup (p.Gly252_Glu253insGly) | ClinVar |
| 15 | g.67184754G>A | CA392956777 | SMAD3 | c.314G>A (p.Gly105Glu) c.584G>A (p.Gly195Glu) c.899G>A (p.Gly300Glu) n.602G>A c.767G>A (p.Gly256Glu) c.557-2611G>A (n.557-2611G>A) n.283-8119G>A c.752G>A (p.Gly251Glu) | dbSNP |
| 15 | g.67184754G>C | CA392956778 | SMAD3 | c.314G>C (p.Gly105Ala) c.584G>C (p.Gly195Ala) c.899G>C (p.Gly300Ala) n.602G>C c.767G>C (p.Gly256Ala) c.557-2611G>C (n.557-2611G>C) n.283-8119G>C c.752G>C (p.Gly251Ala) | |
| 15 | g.67184754G>T | CA392956780 | SMAD3 | c.314G>T (p.Gly105Val) c.584G>T (p.Gly195Val) c.899G>T (p.Gly300Val) n.602G>T c.767G>T (p.Gly256Val) c.557-2611G>T (n.557-2611G>T) n.283-8119G>T c.752G>T (p.Gly251Val) | |
| 15 | g.67184755A>C | CA490916455 | SMAD3 | c.315A>C (p.Gly105=) c.585A>C (p.Gly195=) c.900A>C (p.Gly300=) n.603A>C c.768A>C (p.Gly256=) c.557-2610A>C (n.557-2610A>C) n.283-8118A>C c.753A>C (p.Gly251=) | |
| 15 | g.67184755A>G | CA490916456 | SMAD3 | c.315A>G (p.Gly105=) c.585A>G (p.Gly195=) c.900A>G (p.Gly300=) n.603A>G c.768A>G (p.Gly256=) c.557-2610A>G (n.557-2610A>G) n.283-8118A>G c.753A>G (p.Gly251=) | |
| 15 | g.67184755A>T | CA490916457 | SMAD3 | c.315A>T (p.Gly105=) c.585A>T (p.Gly195=) c.900A>T (p.Gly300=) n.603A>T c.768A>T (p.Gly256=) c.557-2610A>T (n.557-2610A>T) n.283-8118A>T c.753A>T (p.Gly251=) | |
| 15 | g.67184755_67184756delinsAG | CA2184419193 | SMAD3 | c.315_316delinsAG (p.Gly105=) c.585_586delinsAG (p.Gly195=) c.900_901delinsAG (p.Gly300=) n.603_604delinsAG c.768_769delinsAG (p.Gly256=) c.557-2610_557-2609delinsAG (n.557-2610_557-2609delinsAG) n.283-8118_283-8117delinsAG c.753_754delinsAG (p.Gly251=) | |
| 15 | g.67184756G>A | CA392956782 | SMAD3 | c.316G>A (p.Gly106Arg) c.586G>A (p.Gly196Arg) c.901G>A (p.Gly301Arg) n.604G>A c.769G>A (p.Gly257Arg) c.557-2609G>A (n.557-2609G>A) n.283-8117G>A c.754G>A (p.Gly252Arg) | dbSNP |
| 15 | g.67184756G>C | CA392956783 | SMAD3 | c.316G>C (p.Gly106Arg) c.586G>C (p.Gly196Arg) c.901G>C (p.Gly301Arg) n.604G>C c.769G>C (p.Gly257Arg) c.557-2609G>C (n.557-2609G>C) n.283-8117G>C c.754G>C (p.Gly252Arg) | |
| 15 | g.67184756G>T | CA392956786 | SMAD3 | c.316G>T (p.Gly106Trp) c.586G>T (p.Gly196Trp) c.901G>T (p.Gly301Trp) n.604G>T c.769G>T (p.Gly257Trp) c.557-2609G>T (n.557-2609G>T) n.283-8117G>T c.754G>T (p.Gly252Trp) | dbSNP |
| 15 | g.67184758_67184759dup | CA16614551 | SMAD3 | c.318_319dup (p.Glu107GlyfsTer?) c.588_589dup (p.Glu197GlyfsTer?) c.903_904dup (p.Glu302GlyfsTer?) n.606_607dup c.771_772dup (p.Glu258GlyfsTer?) c.557-2607_557-2606dup (n.557-2607_557-2606dup) n.283-8115_283-8114dup c.756_757dup (p.Glu253GlyfsTer?) | ClinVar dbSNP |
| 15 | g.67184759del | CA915946046 | SMAD3 | c.319del (p.Glu107ArgfsTer?) c.589del (p.Glu197ArgfsTer?) c.904del (p.Glu302ArgfsTer?) n.607del c.772del (p.Glu258ArgfsTer?) c.557-2606del (n.557-2606del) n.283-8114del c.757del (p.Glu253ArgfsTer?) | ClinVar dbSNP |
| 15 | g.67184757G>A | CA392956788 | SMAD3 | c.317G>A (p.Gly106Glu) c.587G>A (p.Gly196Glu) c.902G>A (p.Gly301Glu) n.605G>A c.770G>A (p.Gly257Glu) c.557-2608G>A (n.557-2608G>A) n.283-8116G>A c.755G>A (p.Gly252Glu) | |
| 15 | g.67184757G>C | CA392956790 | SMAD3 | c.317G>C (p.Gly106Ala) c.587G>C (p.Gly196Ala) c.902G>C (p.Gly301Ala) n.605G>C c.770G>C (p.Gly257Ala) c.557-2608G>C (n.557-2608G>C) n.283-8116G>C c.755G>C (p.Gly252Ala) | |
| 15 | g.67184757G= | CA2184419203 | SMAD3 | c.317G= (p.Gly106=) c.587G= (p.Gly196=) c.902G= (p.Gly301=) n.605G= c.770G= (p.Gly257=) c.557-2608G= (n.557-2608G=) n.283-8116G= c.755G= (p.Gly252=) | |
| 15 | g.67184757G>T | CA392956793 | SMAD3 | c.317G>T (p.Gly106Val) c.587G>T (p.Gly196Val) c.902G>T (p.Gly301Val) n.605G>T c.770G>T (p.Gly257Val) c.557-2608G>T (n.557-2608G>T) n.283-8116G>T c.755G>T (p.Gly252Val) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.67184758G>A | CA490916460 | SMAD3 | c.318G>A (p.Gly106=) c.588G>A (p.Gly196=) c.903G>A (p.Gly301=) n.606G>A c.771G>A (p.Gly257=) c.557-2607G>A (n.557-2607G>A) n.283-8115G>A c.756G>A (p.Gly252=) | gnomAD v4 |
| 15 | g.67184758G>C | CA490916461 | SMAD3 | c.318G>C (p.Gly106=) c.588G>C (p.Gly196=) c.903G>C (p.Gly301=) n.606G>C c.771G>C (p.Gly257=) c.557-2607G>C (n.557-2607G>C) n.283-8115G>C c.756G>C (p.Gly252=) | |
| 15 | g.67184758G>T | CA490916462 | SMAD3 | c.318G>T (p.Gly106=) c.588G>T (p.Gly196=) c.903G>T (p.Gly301=) n.606G>T c.771G>T (p.Gly257=) c.557-2607G>T (n.557-2607G>T) n.283-8115G>T c.756G>T (p.Gly252=) | |
| 15 | g.67184759G>A | CA392956796 | SMAD3 | c.319G>A (p.Glu107Lys) c.589G>A (p.Glu197Lys) c.904G>A (p.Glu302Lys) n.607G>A c.772G>A (p.Glu258Lys) c.557-2606G>A (n.557-2606G>A) n.283-8114G>A c.757G>A (p.Glu253Lys) | |
| 15 | g.67184759G>C | CA392956798 | SMAD3 | c.319G>C (p.Glu107Gln) c.589G>C (p.Glu197Gln) c.904G>C (p.Glu302Gln) n.607G>C c.772G>C (p.Glu258Gln) c.557-2606G>C (n.557-2606G>C) n.283-8114G>C c.757G>C (p.Glu253Gln) | |
| 15 | g.67184759G>T | CA392956799 | SMAD3 | c.319G>T (p.Glu107Ter) c.589G>T (p.Glu197Ter) c.904G>T (p.Glu302Ter) n.607G>T c.772G>T (p.Glu258Ter) c.557-2606G>T (n.557-2606G>T) n.283-8114G>T c.757G>T (p.Glu253Ter) | |
| 15 | g.67184760A= | CA2184419207 | SMAD3 | c.320A= (p.Glu107=) c.590A= (p.Glu197=) c.905A= (p.Glu302=) n.608A= c.773A= (p.Glu258=) c.557-2605A= (n.557-2605A=) n.283-8113A= c.758A= (p.Glu253=) | |
| 15 | g.67184760A>C | CA392956807 | SMAD3 | c.320A>C (p.Glu107Ala) c.590A>C (p.Glu197Ala) c.905A>C (p.Glu302Ala) n.608A>C c.773A>C (p.Glu258Ala) c.557-2605A>C (n.557-2605A>C) n.283-8113A>C c.758A>C (p.Glu253Ala) | |
| 15 | g.67184760A>G | CA392956805 | SMAD3 | c.320A>G (p.Glu107Gly) c.590A>G (p.Glu197Gly) c.905A>G (p.Glu302Gly) n.608A>G c.773A>G (p.Glu258Gly) c.557-2605A>G (n.557-2605A>G) n.283-8113A>G c.758A>G (p.Glu253Gly) | dbSNP |
| 15 | g.67184760A>T | CA392956803 | SMAD3 | c.320A>T (p.Glu107Val) c.590A>T (p.Glu197Val) c.905A>T (p.Glu302Val) n.608A>T c.773A>T (p.Glu258Val) c.557-2605A>T (n.557-2605A>T) n.283-8113A>T c.758A>T (p.Glu253Val) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.67184761G>A | CA490916466 | SMAD3 | c.321G>A (p.Glu107=) c.591G>A (p.Glu197=) c.906G>A (p.Glu302=) n.609G>A c.774G>A (p.Glu258=) c.557-2604G>A (n.557-2604G>A) n.283-8112G>A c.759G>A (p.Glu253=) | dbSNP |
| 15 | g.67184761G>C | CA392956810 | SMAD3 | c.321G>C (p.Glu107Asp) c.591G>C (p.Glu197Asp) c.906G>C (p.Glu302Asp) n.609G>C c.774G>C (p.Glu258Asp) c.557-2604G>C (n.557-2604G>C) n.283-8112G>C c.759G>C (p.Glu253Asp) | |
| 15 | g.67184761G>T | CA392956813 | SMAD3 | c.321G>T (p.Glu107Asp) c.591G>T (p.Glu197Asp) c.906G>T (p.Glu302Asp) n.609G>T c.774G>T (p.Glu258Asp) c.557-2604G>T (n.557-2604G>T) n.283-8112G>T c.759G>T (p.Glu253Asp) | |
| 15 | g.67184762G>A | CA16614720 | SMAD3 | c.322G>A (p.Val108Ile) c.592G>A (p.Val198Ile) c.907G>A (p.Val303Ile) n.610G>A c.775G>A (p.Val259Ile) c.557-2603G>A (n.557-2603G>A) n.283-8111G>A c.760G>A (p.Val254Ile) | ClinVar dbSNP |
| 15 | g.67184762G>C | CA392956819 | SMAD3 | c.322G>C (p.Val108Leu) c.592G>C (p.Val198Leu) c.907G>C (p.Val303Leu) n.610G>C c.775G>C (p.Val259Leu) c.557-2603G>C (n.557-2603G>C) n.283-8111G>C c.760G>C (p.Val254Leu) | |
| 15 | g.67184762G= | CA2184419210 | SMAD3 | c.322G= (p.Val108=) c.592G= (p.Val198=) c.907G= (p.Val303=) n.610G= c.775G= (p.Val259=) c.557-2603G= (n.557-2603G=) n.283-8111G= c.760G= (p.Val254=) | |
| 15 | g.67184762G>T | CA392956816 | SMAD3 | c.322G>T (p.Val108Phe) c.592G>T (p.Val198Phe) c.907G>T (p.Val303Phe) n.610G>T c.775G>T (p.Val259Phe) c.557-2603G>T (n.557-2603G>T) n.283-8111G>T c.760G>T (p.Val254Phe) | |
| 15 | g.67184763T>A | CA392956822 | SMAD3 | c.323T>A (p.Val108Asp) c.593T>A (p.Val198Asp) c.908T>A (p.Val303Asp) n.611T>A c.776T>A (p.Val259Asp) c.557-2602T>A (n.557-2602T>A) n.283-8110T>A c.761T>A (p.Val254Asp) | ClinVar dbSNP |
| 15 | g.67184763T>C | CA392956823 | SMAD3 | c.323T>C (p.Val108Ala) c.593T>C (p.Val198Ala) c.908T>C (p.Val303Ala) n.611T>C c.776T>C (p.Val259Ala) c.557-2602T>C (n.557-2602T>C) n.283-8110T>C c.761T>C (p.Val254Ala) | |
| 15 | g.67184763T>G | CA392956826 | SMAD3 | c.323T>G (p.Val108Gly) c.593T>G (p.Val198Gly) c.908T>G (p.Val303Gly) n.611T>G c.776T>G (p.Val259Gly) c.557-2602T>G (n.557-2602T>G) n.283-8110T>G c.761T>G (p.Val254Gly) | dbSNP |
| 15 | g.67184763T= | CA2184419214 | SMAD3 | c.323T= (p.Val108=) c.593T= (p.Val198=) c.908T= (p.Val303=) n.611T= c.776T= (p.Val259=) c.557-2602T= (n.557-2602T=) n.283-8110T= c.761T= (p.Val254=) | |
| 15 | g.67184765_67184767del | CA2731022564 | SMAD3 | c.325_327del (p.Phe109del) c.595_597del (p.Phe199del) c.910_912del (p.Phe304del) n.613_615del c.778_780del (p.Phe260del) c.557-2600_557-2598del (n.557-2600_557-2598del) n.283-8108_283-8106del c.763_765del (p.Phe255del) | dbSNP |
| 15 | g.67184764C>A | CA490916467 | SMAD3 | c.324C>A (p.Val108=) c.594C>A (p.Val198=) c.909C>A (p.Val303=) n.612C>A c.777C>A (p.Val259=) c.557-2601C>A (n.557-2601C>A) n.283-8109C>A c.762C>A (p.Val254=) | |
| 15 | g.67184764C>G | CA490916468 | SMAD3 | c.324C>G (p.Val108=) c.594C>G (p.Val198=) c.909C>G (p.Val303=) n.612C>G c.777C>G (p.Val259=) c.557-2601C>G (n.557-2601C>G) n.283-8109C>G c.762C>G (p.Val254=) | |
| 15 | g.67184764C>T | CA490916470 | SMAD3 | c.324C>T (p.Val108=) c.594C>T (p.Val198=) c.909C>T (p.Val303=) n.612C>T c.777C>T (p.Val259=) c.557-2601C>T (n.557-2601C>T) n.283-8109C>T c.762C>T (p.Val254=) | |
| 15 | g.67184765_67184769del | CA2731022601 | SMAD3 | c.325_329del (p.Phe109ArgfsTer5) c.595_599del (p.Phe199ArgfsTer5) c.910_914del (p.Phe304ArgfsTer5) n.613_617del c.778_782del (p.Phe260ArgfsTer5) c.325_329del (p.Phe109ArgfsTer?) c.557-2600_557-2596del (n.557-2600_557-2596del) n.283-8108_283-8104del c.763_767del (p.Phe255ArgfsTer5) | dbSNP |
| 15 | g.67184765T>A | CA392956829 | SMAD3 | c.325T>A (p.Phe109Ile) c.595T>A (p.Phe199Ile) c.910T>A (p.Phe304Ile) n.613T>A c.778T>A (p.Phe260Ile) c.557-2600T>A (n.557-2600T>A) n.283-8108T>A c.763T>A (p.Phe255Ile) | |
| 15 | g.67184765T>C | CA392956831 | SMAD3 | c.325T>C (p.Phe109Leu) c.595T>C (p.Phe199Leu) c.910T>C (p.Phe304Leu) n.613T>C c.778T>C (p.Phe260Leu) c.557-2600T>C (n.557-2600T>C) n.283-8108T>C c.763T>C (p.Phe255Leu) | |
| 15 | g.67184765T>G | CA392956833 | SMAD3 | c.325T>G (p.Phe109Val) c.595T>G (p.Phe199Val) c.910T>G (p.Phe304Val) n.613T>G c.778T>G (p.Phe260Val) c.557-2600T>G (n.557-2600T>G) n.283-8108T>G c.763T>G (p.Phe255Val) | |
| 15 | g.67184766T>A | CA392956837 | SMAD3 | c.326T>A (p.Phe109Tyr) c.596T>A (p.Phe199Tyr) c.911T>A (p.Phe304Tyr) n.614T>A c.779T>A (p.Phe260Tyr) c.557-2599T>A (n.557-2599T>A) n.283-8107T>A c.764T>A (p.Phe255Tyr) | |
| 15 | g.67184766T>C | CA392956839 | SMAD3 | c.326T>C (p.Phe109Ser) c.596T>C (p.Phe199Ser) c.911T>C (p.Phe304Ser) n.614T>C c.779T>C (p.Phe260Ser) c.557-2599T>C (n.557-2599T>C) n.283-8107T>C c.764T>C (p.Phe255Ser) | |
| 15 | g.67184766T>G | CA392956841 | SMAD3 | c.326T>G (p.Phe109Cys) c.596T>G (p.Phe199Cys) c.911T>G (p.Phe304Cys) n.614T>G c.779T>G (p.Phe260Cys) c.557-2599T>G (n.557-2599T>G) n.283-8107T>G c.764T>G (p.Phe255Cys) | |
| 15 | g.67184767C>A | CA392956844 | SMAD3 | c.327C>A (p.Phe109Leu) c.597C>A (p.Phe199Leu) c.912C>A (p.Phe304Leu) n.615C>A c.780C>A (p.Phe260Leu) c.557-2598C>A (n.557-2598C>A) n.283-8106C>A c.765C>A (p.Phe255Leu) | |
| 15 | g.67184767C= | CA2184419220 | SMAD3 | c.327C= (p.Phe109=) c.597C= (p.Phe199=) c.912C= (p.Phe304=) n.615C= c.780C= (p.Phe260=) c.557-2598C= (n.557-2598C=) n.283-8106C= c.765C= (p.Phe255=) | |
| 15 | g.67184767C>G | CA392956847 | SMAD3 | c.327C>G (p.Phe109Leu) c.597C>G (p.Phe199Leu) c.912C>G (p.Phe304Leu) n.615C>G c.780C>G (p.Phe260Leu) c.557-2598C>G (n.557-2598C>G) n.283-8106C>G c.765C>G (p.Phe255Leu) | |
| 15 | g.67184767C>T | CA062839 | SMAD3 | c.327C>T (p.Phe109=) c.597C>T (p.Phe199=) c.912C>T (p.Phe304=) n.615C>T c.780C>T (p.Phe260=) c.557-2598C>T (n.557-2598C>T) n.283-8106C>T c.765C>T (p.Phe255=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.67184768G>A | CA392956855 | SMAD3 | c.328G>A (p.Ala110Thr) c.598G>A (p.Ala200Thr) c.913G>A (p.Ala305Thr) n.616G>A c.781G>A (p.Ala261Thr) c.557-2597G>A (n.557-2597G>A) n.283-8105G>A c.766G>A (p.Ala256Thr) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 15 | g.67184768G>C | CA392956850 | SMAD3 | c.328G>C (p.Ala110Pro) c.598G>C (p.Ala200Pro) c.913G>C (p.Ala305Pro) n.616G>C c.781G>C (p.Ala261Pro) c.557-2597G>C (n.557-2597G>C) n.283-8105G>C c.766G>C (p.Ala256Pro) | |
| 15 | g.67184768G= | CA2184419226 | SMAD3 | c.328G= (p.Ala110=) c.598G= (p.Ala200=) c.913G= (p.Ala305=) n.616G= c.781G= (p.Ala261=) c.557-2597G= (n.557-2597G=) n.283-8105G= c.766G= (p.Ala256=) | |
| 15 | g.67184768G>T | CA392956852 | SMAD3 | c.328G>T (p.Ala110Ser) c.598G>T (p.Ala200Ser) c.913G>T (p.Ala305Ser) n.616G>T c.781G>T (p.Ala261Ser) c.557-2597G>T (n.557-2597G>T) n.283-8105G>T c.766G>T (p.Ala256Ser) | |
| 15 | g.67184769C>A | CA392956857 | SMAD3 | c.329C>A (p.Ala110Glu) c.599C>A (p.Ala200Glu) c.914C>A (p.Ala305Glu) n.617C>A c.782C>A (p.Ala261Glu) c.557-2596C>A (n.557-2596C>A) n.283-8104C>A c.767C>A (p.Ala256Glu) | |
| 15 | g.67184769C>G | CA392956858 | SMAD3 | c.329C>G (p.Ala110Gly) c.599C>G (p.Ala200Gly) c.914C>G (p.Ala305Gly) n.617C>G c.782C>G (p.Ala261Gly) c.557-2596C>G (n.557-2596C>G) n.283-8104C>G c.767C>G (p.Ala256Gly) | |
| 15 | g.67184769C>T | CA392956859 | SMAD3 | c.329C>T (p.Ala110Val) c.599C>T (p.Ala200Val) c.914C>T (p.Ala305Val) n.617C>T c.782C>T (p.Ala261Val) c.557-2596C>T (n.557-2596C>T) n.283-8104C>T c.767C>T (p.Ala256Val) | dbSNP |
| 15 | g.67184770A>C | CA490916483 | SMAD3 | c.330A>C (p.Ala110=) c.600A>C (p.Ala200=) c.915A>C (p.Ala305=) n.618A>C c.783A>C (p.Ala261=) c.557-2595A>C (n.557-2595A>C) n.283-8103A>C c.768A>C (p.Ala256=) | |
| 15 | g.67184770A>G | CA490916484 | SMAD3 | c.330A>G (p.Ala110=) c.600A>G (p.Ala200=) c.915A>G (p.Ala305=) n.618A>G c.783A>G (p.Ala261=) c.557-2595A>G (n.557-2595A>G) n.283-8103A>G c.768A>G (p.Ala256=) | |
| 15 | g.67184770A>T | CA490916485 | SMAD3 | c.330A>T (p.Ala110=) c.600A>T (p.Ala200=) c.915A>T (p.Ala305=) n.618A>T c.783A>T (p.Ala261=) c.557-2595A>T (n.557-2595A>T) n.283-8103A>T c.768A>T (p.Ala256=) | |
| 15 | g.67184770_67184771insCT | CA2731022619 | SMAD3 | c.330_331insCT (p.Glu111LeufsTer?) c.600_601insCT (p.Glu201LeufsTer?) c.915_916insCT (p.Glu306LeufsTer?) n.618_619insCT c.783_784insCT (p.Glu262LeufsTer?) c.557-2595_557-2594insCT (n.557-2595_557-2594insCT) n.283-8103_283-8102insCT c.768_769insCT (p.Glu257LeufsTer?) | dbSNP |
| 15 | g.67184771G>A | CA392956862 | SMAD3 | c.331G>A (p.Glu111Lys) c.601G>A (p.Glu201Lys) c.916G>A (p.Glu306Lys) n.619G>A c.784G>A (p.Glu262Lys) c.557-2594G>A (n.557-2594G>A) n.283-8102G>A c.769G>A (p.Glu257Lys) | dbSNP |
| 15 | g.67184771G>C | CA392956865 | SMAD3 | c.331G>C (p.Glu111Gln) c.601G>C (p.Glu201Gln) c.916G>C (p.Glu306Gln) n.619G>C c.784G>C (p.Glu262Gln) c.557-2594G>C (n.557-2594G>C) n.283-8102G>C c.769G>C (p.Glu257Gln) | |
| 15 | g.67184771G>T | CA392956868 | SMAD3 | c.331G>T (p.Glu111Ter) c.601G>T (p.Glu201Ter) c.916G>T (p.Glu306Ter) n.619G>T c.784G>T (p.Glu262Ter) c.557-2594G>T (n.557-2594G>T) n.283-8102G>T c.769G>T (p.Glu257Ter) | ClinVar COSMIC COSMIC |
| 15 | g.67184772A>C | CA392956869 | SMAD3 | c.332A>C (p.Glu111Ala) c.602A>C (p.Glu201Ala) c.917A>C (p.Glu306Ala) n.620A>C c.785A>C (p.Glu262Ala) c.557-2593A>C (n.557-2593A>C) n.283-8101A>C c.770A>C (p.Glu257Ala) | |
| 15 | g.67184772A>G | CA392956871 | SMAD3 | c.332A>G (p.Glu111Gly) c.602A>G (p.Glu201Gly) c.917A>G (p.Glu306Gly) n.620A>G c.785A>G (p.Glu262Gly) c.557-2593A>G (n.557-2593A>G) n.283-8101A>G c.770A>G (p.Glu257Gly) | |
| 15 | g.67184772A>T | CA392956874 | SMAD3 | c.332A>T (p.Glu111Val) c.602A>T (p.Glu201Val) c.917A>T (p.Glu306Val) n.620A>T c.785A>T (p.Glu262Val) c.557-2593A>T (n.557-2593A>T) n.283-8101A>T c.770A>T (p.Glu257Val) | |
| 15 | g.67184773G>A | CA490916495 | SMAD3 | c.333G>A (p.Glu111=) c.603G>A (p.Glu201=) c.918G>A (p.Glu306=) n.621G>A c.786G>A (p.Glu262=) c.557-2592G>A (n.557-2592G>A) n.283-8100G>A c.771G>A (p.Glu257=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.67184773G>C | CA392956876 | SMAD3 | c.333G>C (p.Glu111Asp) c.603G>C (p.Glu201Asp) c.918G>C (p.Glu306Asp) n.621G>C c.786G>C (p.Glu262Asp) c.557-2592G>C (n.557-2592G>C) n.283-8100G>C c.771G>C (p.Glu257Asp) | |
| 15 | g.67184773G= | CA2184419231 | SMAD3 | c.333G= (p.Glu111=) c.603G= (p.Glu201=) c.918G= (p.Glu306=) n.621G= c.786G= (p.Glu262=) c.557-2592G= (n.557-2592G=) n.283-8100G= c.771G= (p.Glu257=) | |
| 15 | g.67184773G>T | CA392956879 | SMAD3 | c.333G>T (p.Glu111Asp) c.603G>T (p.Glu201Asp) c.918G>T (p.Glu306Asp) n.621G>T c.786G>T (p.Glu262Asp) c.557-2592G>T (n.557-2592G>T) n.283-8100G>T c.771G>T (p.Glu257Asp) | |
| 15 | g.67184774T>A | CA392956885 | SMAD3 | c.334T>A (p.Cys112Ser) c.604T>A (p.Cys202Ser) c.919T>A (p.Cys307Ser) n.622T>A c.787T>A (p.Cys263Ser) c.557-2591T>A (n.557-2591T>A) n.283-8099T>A c.772T>A (p.Cys258Ser) | |
| 15 | g.67184774T>C | CA392956883 | SMAD3 | c.334T>C (p.Cys112Arg) c.604T>C (p.Cys202Arg) c.919T>C (p.Cys307Arg) n.622T>C c.787T>C (p.Cys263Arg) c.557-2591T>C (n.557-2591T>C) n.283-8099T>C c.772T>C (p.Cys258Arg) | |
| 15 | g.67184774T>G | CA392956881 | SMAD3 | c.334T>G (p.Cys112Gly) c.604T>G (p.Cys202Gly) c.919T>G (p.Cys307Gly) n.622T>G c.787T>G (p.Cys263Gly) c.557-2591T>G (n.557-2591T>G) n.283-8099T>G c.772T>G (p.Cys258Gly) | |
| 15 | g.67184775G>A | CA392956888 | SMAD3 | c.335G>A (p.Cys112Tyr) c.605G>A (p.Cys202Tyr) c.920G>A (p.Cys307Tyr) n.623G>A c.788G>A (p.Cys263Tyr) c.557-2590G>A (n.557-2590G>A) n.283-8098G>A c.1G>A c.773G>A (p.Cys258Tyr) | ClinVar |
| 15 | g.67184775G>C | CA392956890 | SMAD3 | c.335G>C (p.Cys112Ser) c.605G>C (p.Cys202Ser) c.920G>C (p.Cys307Ser) n.623G>C c.788G>C (p.Cys263Ser) c.557-2590G>C (n.557-2590G>C) n.283-8098G>C c.1G>C c.773G>C (p.Cys258Ser) | |
| 15 | g.67184775G>T | CA392956892 | SMAD3 | c.335G>T (p.Cys112Phe) c.605G>T (p.Cys202Phe) c.920G>T (p.Cys307Phe) n.623G>T c.788G>T (p.Cys263Phe) c.557-2590G>T (n.557-2590G>T) n.283-8098G>T c.1G>T c.773G>T (p.Cys258Phe) | |
| 15 | g.67184776C>A | CA392956894 | SMAD3 | c.336C>A (p.Cys112Ter) c.606C>A (p.Cys202Ter) c.921C>A (p.Cys307Ter) n.624C>A c.789C>A (p.Cys263Ter) c.557-2589C>A (n.557-2589C>A) n.283-8097C>A c.2C>A c.774C>A (p.Cys258Ter) | |
| 15 | g.67184776C>G | CA392956897 | SMAD3 | c.336C>G (p.Cys112Trp) c.606C>G (p.Cys202Trp) c.921C>G (p.Cys307Trp) n.624C>G c.789C>G (p.Cys263Trp) c.557-2589C>G (n.557-2589C>G) n.283-8097C>G c.2C>G c.774C>G (p.Cys258Trp) | |
| 15 | g.67184776C>T | CA490916496 | SMAD3 | c.336C>T (p.Cys112=) c.606C>T (p.Cys202=) c.921C>T (p.Cys307=) n.624C>T c.789C>T (p.Cys263=) c.557-2589C>T (n.557-2589C>T) n.283-8097C>T c.2C>T c.774C>T (p.Cys258=) | dbSNP |
| 15 | g.67184777C>A | CA392956902 | SMAD3 | c.337C>A (p.Leu113Ile) c.607C>A (p.Leu203Ile) c.922C>A (p.Leu308Ile) n.625C>A c.790C>A (p.Leu264Ile) c.337C>A c.557-2588C>A (n.557-2588C>A) n.283-8096C>A c.3C>A c.775C>A (p.Leu259Ile) | |
| 15 | g.67184777C= | CA2184419235 | SMAD3 | c.337C= (p.Leu113=) c.607C= (p.Leu203=) c.922C= (p.Leu308=) n.625C= c.790C= (p.Leu264=) c.337C= c.557-2588C= (n.557-2588C=) n.283-8096C= c.3C= c.775C= (p.Leu259=) | |
| 15 | g.67184777C>G | CA392956900 | SMAD3 | c.337C>G (p.Leu113Val) c.607C>G (p.Leu203Val) c.922C>G (p.Leu308Val) n.625C>G c.790C>G (p.Leu264Val) c.337C>G c.557-2588C>G (n.557-2588C>G) n.283-8096C>G c.3C>G c.775C>G (p.Leu259Val) | |
| 15 | g.67184777C>T | CA062844 | SMAD3 | c.337C>T (p.Leu113Phe) c.607C>T (p.Leu203Phe) c.922C>T (p.Leu308Phe) n.625C>T c.790C>T (p.Leu264Phe) c.337C>T c.557-2588C>T (n.557-2588C>T) n.283-8096C>T c.3C>T c.775C>T (p.Leu259Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.67184778T>A | CA392956904 | SMAD3 | c.338T>A (p.Leu113His) c.608T>A (p.Leu203His) c.923T>A (p.Leu308His) n.626T>A c.791T>A (p.Leu264His) c.338T>A c.557-2587T>A (n.557-2587T>A) n.283-8095T>A c.4T>A c.776T>A (p.Leu259His) | |
| 15 | g.67184778T>C | CA392956906 | SMAD3 | c.338T>C (p.Leu113Pro) c.608T>C (p.Leu203Pro) c.923T>C (p.Leu308Pro) n.626T>C c.791T>C (p.Leu264Pro) c.338T>C c.557-2587T>C (n.557-2587T>C) n.283-8095T>C c.4T>C c.776T>C (p.Leu259Pro) | |
| 15 | g.67184778T>G | CA392956908 | SMAD3 | c.338T>G (p.Leu113Arg) c.608T>G (p.Leu203Arg) c.923T>G (p.Leu308Arg) n.626T>G c.791T>G (p.Leu264Arg) c.338T>G c.557-2587T>G (n.557-2587T>G) n.283-8095T>G c.4T>G c.776T>G (p.Leu259Arg) | |
| 15 | g.67184779C>A | CA490916500 | SMAD3 | c.339C>A (p.Leu113=) c.609C>A (p.Leu203=) c.924C>A (p.Leu308=) n.627C>A c.792C>A (p.Leu264=) c.557-2586C>A (n.557-2586C>A) n.283-8094C>A c.5C>A c.777C>A (p.Leu259=) | |
| 15 | g.67184779C= | CA2184419239 | SMAD3 | c.339C= (p.Leu113=) c.609C= (p.Leu203=) c.924C= (p.Leu308=) n.627C= c.792C= (p.Leu264=) c.557-2586C= (n.557-2586C=) n.283-8094C= c.5C= c.777C= (p.Leu259=) | |
| 15 | g.67184779C>G | CA490916502 | SMAD3 | c.339C>G (p.Leu113=) c.609C>G (p.Leu203=) c.924C>G (p.Leu308=) n.627C>G c.792C>G (p.Leu264=) c.557-2586C>G (n.557-2586C>G) n.283-8094C>G c.5C>G c.777C>G (p.Leu259=) | |
| 15 | g.67184779C>T | CA490916503 | SMAD3 | c.339C>T (p.Leu113=) c.609C>T (p.Leu203=) c.924C>T (p.Leu308=) n.627C>T c.792C>T (p.Leu264=) c.557-2586C>T (n.557-2586C>T) n.283-8094C>T c.5C>T c.777C>T (p.Leu259=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 15 | g.67184780A= | CA2184419245 | SMAD3 | c.340A= (p.Ser114=) c.610A= (p.Ser204=) c.925A= (p.Ser309=) n.628A= c.793A= (p.Ser265=) c.557-2585A= (n.557-2585A=) n.283-8093A= c.6A= c.778A= (p.Ser260=) | |
| 15 | g.67184780A>C | CA392956910 | SMAD3 | c.340A>C (p.Ser114Arg) c.610A>C (p.Ser204Arg) c.925A>C (p.Ser309Arg) n.628A>C c.793A>C (p.Ser265Arg) c.557-2585A>C (n.557-2585A>C) n.283-8093A>C c.6A>C c.778A>C (p.Ser260Arg) | |
| 15 | g.67184780A>G | CA062848 | SMAD3 | c.340A>G (p.Ser114Gly) c.610A>G (p.Ser204Gly) c.925A>G (p.Ser309Gly) n.628A>G c.793A>G (p.Ser265Gly) c.557-2585A>G (n.557-2585A>G) n.283-8093A>G c.6A>G c.778A>G (p.Ser260Gly) | ClinVar dbSNP ExAC gnomAD v4 |
| 15 | g.67184780A>T | CA392956915 | SMAD3 | c.340A>T (p.Ser114Cys) c.610A>T (p.Ser204Cys) c.925A>T (p.Ser309Cys) n.628A>T c.793A>T (p.Ser265Cys) c.557-2585A>T (n.557-2585A>T) n.283-8093A>T c.6A>T c.778A>T (p.Ser260Cys) | |
| 15 | g.67184781G>A | CA392956918 | SMAD3 | c.341G>A (p.Ser114Asn) c.611G>A (p.Ser204Asn) c.926G>A (p.Ser309Asn) n.629G>A c.794G>A (p.Ser265Asn) c.557-2584G>A (n.557-2584G>A) n.283-8092G>A c.7G>A c.779G>A (p.Ser260Asn) | |
| 15 | g.67184781G>C | CA392956921 | SMAD3 | c.341G>C (p.Ser114Thr) c.611G>C (p.Ser204Thr) c.926G>C (p.Ser309Thr) n.629G>C c.794G>C (p.Ser265Thr) c.557-2584G>C (n.557-2584G>C) n.283-8092G>C c.7G>C c.779G>C (p.Ser260Thr) | |
| 15 | g.67184781G>T | CA392956919 | SMAD3 | c.341G>T (p.Ser114Ile) c.611G>T (p.Ser204Ile) c.926G>T (p.Ser309Ile) n.629G>T c.794G>T (p.Ser265Ile) c.557-2584G>T (n.557-2584G>T) n.283-8092G>T c.7G>T c.779G>T (p.Ser260Ile) | |
| 15 | g.67184782T>A | CA392956924 | SMAD3 | c.342T>A (p.Ser114Arg) c.612T>A (p.Ser204Arg) c.927T>A (p.Ser309Arg) n.630T>A c.795T>A (p.Ser265Arg) c.557-2583T>A (n.557-2583T>A) n.283-8091T>A c.8T>A c.780T>A (p.Ser260Arg) | |
| 15 | g.67184782T>C | CA490916511 | SMAD3 | c.342T>C (p.Ser114=) c.612T>C (p.Ser204=) c.927T>C (p.Ser309=) n.630T>C c.795T>C (p.Ser265=) c.557-2583T>C (n.557-2583T>C) n.283-8091T>C c.8T>C c.780T>C (p.Ser260=) | ClinVar gnomAD v4 |
| 15 | g.67184782T>G | CA392956927 | SMAD3 | c.342T>G (p.Ser114Arg) c.612T>G (p.Ser204Arg) c.927T>G (p.Ser309Arg) n.630T>G c.795T>G (p.Ser265Arg) c.557-2583T>G (n.557-2583T>G) n.283-8091T>G c.8T>G c.780T>G (p.Ser260Arg) | |
| 15 | g.67184783G>A | CA392956929 | SMAD3 | c.343G>A (p.Asp115Asn) c.613G>A (p.Asp205Asn) c.928G>A (p.Asp310Asn) n.631G>A c.796G>A (p.Asp266Asn) c.557-2582G>A (n.557-2582G>A) n.283-8090G>A c.9G>A c.781G>A (p.Asp261Asn) | |
| 15 | g.67184783G>C | CA392956931 | SMAD3 | c.343G>C (p.Asp115His) c.613G>C (p.Asp205His) c.928G>C (p.Asp310His) n.631G>C c.796G>C (p.Asp266His) c.557-2582G>C (n.557-2582G>C) n.283-8090G>C c.9G>C c.781G>C (p.Asp261His) | |
| 15 | g.67184783G>T | CA392956933 | SMAD3 | c.343G>T (p.Asp115Tyr) c.613G>T (p.Asp205Tyr) c.928G>T (p.Asp310Tyr) n.631G>T c.796G>T (p.Asp266Tyr) c.557-2582G>T (n.557-2582G>T) n.283-8090G>T c.9G>T c.781G>T (p.Asp261Tyr) | |
| 15 | g.67184784A>C | CA392956936 | SMAD3 | c.344A>C (p.Asp115Ala) c.614A>C (p.Asp205Ala) c.929A>C (p.Asp310Ala) n.632A>C c.797A>C (p.Asp266Ala) c.557-2581A>C (n.557-2581A>C) n.283-8089A>C c.10A>C c.782A>C (p.Asp261Ala) | |
| 15 | g.67184784A>G | CA392956938 | SMAD3 | c.344A>G (p.Asp115Gly) c.614A>G (p.Asp205Gly) c.929A>G (p.Asp310Gly) n.632A>G c.797A>G (p.Asp266Gly) c.557-2581A>G (n.557-2581A>G) n.283-8089A>G c.10A>G c.782A>G (p.Asp261Gly) | ClinVar |
| 15 | g.67184784A>T | CA392956940 | SMAD3 | c.344A>T (p.Asp115Val) c.614A>T (p.Asp205Val) c.929A>T (p.Asp310Val) n.632A>T c.797A>T (p.Asp266Val) c.557-2581A>T (n.557-2581A>T) n.283-8089A>T c.10A>T c.782A>T (p.Asp261Val) | |
| 15 | g.67184785C>A | CA392956943 | SMAD3 | c.345C>A (p.Asp115Glu) c.615C>A (p.Asp205Glu) c.930C>A (p.Asp310Glu) n.633C>A c.798C>A (p.Asp266Glu) c.557-2580C>A (n.557-2580C>A) n.283-8088C>A c.11C>A c.783C>A (p.Asp261Glu) | |
| 15 | g.67184785C>G | CA392956945 | SMAD3 | c.345C>G (p.Asp115Glu) c.615C>G (p.Asp205Glu) c.930C>G (p.Asp310Glu) n.633C>G c.798C>G (p.Asp266Glu) c.557-2580C>G (n.557-2580C>G) n.283-8088C>G c.11C>G c.783C>G (p.Asp261Glu) | |
| 15 | g.67184785C>T | CA490916513 | SMAD3 | c.345C>T (p.Asp115=) c.615C>T (p.Asp205=) c.930C>T (p.Asp310=) n.633C>T c.798C>T (p.Asp266=) c.557-2580C>T (n.557-2580C>T) n.283-8088C>T c.11C>T c.783C>T (p.Asp261=) | gnomAD v4 |
| 15 | g.67184786A= | CA2184419255 | SMAD3 | c.346A= (p.Ser116=) c.616A= (p.Ser206=) c.931A= (p.Ser311=) n.634A= c.799A= (p.Ser267=) c.557-2579A= (n.557-2579A=) n.283-8087A= c.12A= c.784A= (p.Ser262=) | |
| 15 | g.67184786A>C | CA392956952 | SMAD3 | c.346A>C (p.Ser116Arg) c.616A>C (p.Ser206Arg) c.931A>C (p.Ser311Arg) n.634A>C c.799A>C (p.Ser267Arg) c.557-2579A>C (n.557-2579A>C) n.283-8087A>C c.12A>C c.784A>C (p.Ser262Arg) | |
| 15 | g.67184786A>G | CA062854 | SMAD3 | c.346A>G (p.Ser116Gly) c.616A>G (p.Ser206Gly) c.931A>G (p.Ser311Gly) n.634A>G c.799A>G (p.Ser267Gly) c.557-2579A>G (n.557-2579A>G) n.283-8087A>G c.12A>G c.784A>G (p.Ser262Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.67184786A>T | CA392956948 | SMAD3 | c.346A>T (p.Ser116Cys) c.616A>T (p.Ser206Cys) c.931A>T (p.Ser311Cys) n.634A>T c.799A>T (p.Ser267Cys) c.557-2579A>T (n.557-2579A>T) n.283-8087A>T c.12A>T c.784A>T (p.Ser262Cys) | |
| 15 | g.67184787G>A | CA392956955 | SMAD3 | c.347G>A (p.Ser116Asn) c.617G>A (p.Ser206Asn) c.932G>A (p.Ser311Asn) n.635G>A c.800G>A (p.Ser267Asn) c.557-2578G>A (n.557-2578G>A) n.283-8086G>A c.13G>A c.785G>A (p.Ser262Asn) | |
| 15 | g.67184787G>C | CA392956960 | SMAD3 | c.347G>C (p.Ser116Thr) c.617G>C (p.Ser206Thr) c.932G>C (p.Ser311Thr) n.635G>C c.800G>C (p.Ser267Thr) c.557-2578G>C (n.557-2578G>C) n.283-8086G>C c.13G>C c.785G>C (p.Ser262Thr) | |
| 15 | g.67184787G>T | CA392956957 | SMAD3 | c.347G>T (p.Ser116Ile) c.617G>T (p.Ser206Ile) c.932G>T (p.Ser311Ile) n.635G>T c.800G>T (p.Ser267Ile) c.557-2578G>T (n.557-2578G>T) n.283-8086G>T c.13G>T c.785G>T (p.Ser262Ile) | |
| 15 | g.67184788C>A | CA392956963 | SMAD3 | c.348C>A (p.Ser116Arg) c.618C>A (p.Ser206Arg) c.933C>A (p.Ser311Arg) n.636C>A c.801C>A (p.Ser267Arg) c.557-2577C>A (n.557-2577C>A) n.283-8085C>A c.14C>A c.786C>A (p.Ser262Arg) | dbSNP |
| 15 | g.67184788C= | CA2184419264 | SMAD3 | c.348C= (p.Ser116=) c.618C= (p.Ser206=) c.933C= (p.Ser311=) n.636C= c.801C= (p.Ser267=) c.557-2577C= (n.557-2577C=) n.283-8085C= c.14C= c.786C= (p.Ser262=) | |
| 15 | g.67184788C>G | CA392956964 | SMAD3 | c.348C>G (p.Ser116Arg) c.618C>G (p.Ser206Arg) c.933C>G (p.Ser311Arg) n.636C>G c.801C>G (p.Ser267Arg) c.557-2577C>G (n.557-2577C>G) n.283-8085C>G c.14C>G c.786C>G (p.Ser262Arg) | |
| 15 | g.67184788C>T | CA062858 | SMAD3 | c.348C>T (p.Ser116=) c.618C>T (p.Ser206=) c.933C>T (p.Ser311=) n.636C>T c.801C>T (p.Ser267=) c.557-2577C>T (n.557-2577C>T) n.283-8085C>T c.14C>T c.786C>T (p.Ser262=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.67184789G>A | CA322888 | SMAD3 | c.349G>A (p.Ala117Thr) c.619G>A (p.Ala207Thr) c.934G>A (p.Ala312Thr) n.637G>A c.802G>A (p.Ala268Thr) c.557-2576G>A (n.557-2576G>A) n.283-8084G>A c.15G>A c.787G>A (p.Ala263Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.67184789G>C | CA062863 | SMAD3 | c.349G>C (p.Ala117Pro) c.619G>C (p.Ala207Pro) c.934G>C (p.Ala312Pro) n.637G>C c.802G>C (p.Ala268Pro) c.557-2576G>C (n.557-2576G>C) n.283-8084G>C c.15G>C c.787G>C (p.Ala263Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.67184789G= | CA2184419269 | SMAD3 | c.349G= (p.Ala117=) c.619G= (p.Ala207=) c.934G= (p.Ala312=) n.637G= c.802G= (p.Ala268=) c.557-2576G= (n.557-2576G=) n.283-8084G= c.15G= c.787G= (p.Ala263=) | |
| 15 | g.67184789G>T | CA392956971 | SMAD3 | c.349G>T (p.Ala117Ser) c.619G>T (p.Ala207Ser) c.934G>T (p.Ala312Ser) n.637G>T c.802G>T (p.Ala268Ser) c.557-2576G>T (n.557-2576G>T) n.283-8084G>T c.15G>T c.787G>T (p.Ala263Ser) | |
| 15 | g.67184790C>A | CA392956972 | SMAD3 | c.350C>A (p.Ala117Asp) c.620C>A (p.Ala207Asp) c.935C>A (p.Ala312Asp) n.638C>A c.803C>A (p.Ala268Asp) c.557-2575C>A (n.557-2575C>A) n.283-8083C>A c.16C>A c.788C>A (p.Ala263Asp) | |
| 15 | g.67184790C>G | CA392956975 | SMAD3 | c.350C>G (p.Ala117Gly) c.620C>G (p.Ala207Gly) c.935C>G (p.Ala312Gly) n.638C>G c.803C>G (p.Ala268Gly) c.557-2575C>G (n.557-2575C>G) n.283-8083C>G c.16C>G c.788C>G (p.Ala263Gly) | |
| 15 | g.67184790C>T | CA392956978 | SMAD3 | c.350C>T (p.Ala117Val) c.620C>T (p.Ala207Val) c.935C>T (p.Ala312Val) n.638C>T c.803C>T (p.Ala268Val) c.557-2575C>T (n.557-2575C>T) n.283-8083C>T c.16C>T c.788C>T (p.Ala263Val) | gnomAD v4 |
| 15 | g.67184791T>A | CA490916522 | SMAD3 | c.351T>A (p.Ala117=) c.621T>A (p.Ala207=) c.936T>A (p.Ala312=) n.639T>A c.804T>A (p.Ala268=) c.557-2574T>A (n.557-2574T>A) n.283-8082T>A c.17T>A c.789T>A (p.Ala263=) | |
| 15 | g.67184791T>C | CA490916520 | SMAD3 | c.351T>C (p.Ala117=) c.621T>C (p.Ala207=) c.936T>C (p.Ala312=) n.639T>C c.804T>C (p.Ala268=) c.557-2574T>C (n.557-2574T>C) n.283-8082T>C c.17T>C c.789T>C (p.Ala263=) | ClinVar dbSNP |
| 15 | g.67184791T>G | CA490916519 | SMAD3 | c.351T>G (p.Ala117=) c.621T>G (p.Ala207=) c.936T>G (p.Ala312=) n.639T>G c.804T>G (p.Ala268=) c.557-2574T>G (n.557-2574T>G) n.283-8082T>G c.17T>G c.789T>G (p.Ala263=) | ClinVar dbSNP |
| 15 | g.67184792A= | CA2184419275 | SMAD3 | c.352A= (p.Ile118=) c.622A= (p.Ile208=) c.937A= (p.Ile313=) n.640A= c.805A= (p.Ile269=) c.557-2573A= (n.557-2573A=) n.283-8081A= c.18A= c.790A= (p.Ile264=) | |
| 15 | g.67184792A>C | CA392956979 | SMAD3 | c.352A>C (p.Ile118Leu) c.622A>C (p.Ile208Leu) c.937A>C (p.Ile313Leu) n.640A>C c.805A>C (p.Ile269Leu) c.557-2573A>C (n.557-2573A>C) n.283-8081A>C c.18A>C c.790A>C (p.Ile264Leu) | |
| 15 | g.67184792A>G | CA392956981 | SMAD3 | c.352A>G (p.Ile118Val) c.622A>G (p.Ile208Val) c.937A>G (p.Ile313Val) n.640A>G c.805A>G (p.Ile269Val) c.557-2573A>G (n.557-2573A>G) n.283-8081A>G c.18A>G c.790A>G (p.Ile264Val) | ClinVar dbSNP |
| 15 | g.67184792A>T | CA392956983 | SMAD3 | c.352A>T (p.Ile118Phe) c.622A>T (p.Ile208Phe) c.937A>T (p.Ile313Phe) n.640A>T c.805A>T (p.Ile269Phe) c.557-2573A>T (n.557-2573A>T) n.283-8081A>T c.18A>T c.790A>T (p.Ile264Phe) | |
| 15 | g.67184792_67184793delinsAT | CA2184419273 | SMAD3 | c.352_353delinsAT (p.Ile118=) c.622_623delinsAT (p.Ile208=) c.937_938delinsAT (p.Ile313=) n.640_641delinsAT c.805_806delinsAT (p.Ile269=) c.557-2573_557-2572delinsAT (n.557-2573_557-2572delinsAT) n.283-8081_283-8080delinsAT c.18_19delinsAT c.790_791delinsAT (p.Ile264=) | |
| 15 | g.67184793T>A | CA392956987 | SMAD3 | c.353T>A (p.Ile118Asn) c.623T>A (p.Ile208Asn) c.938T>A (p.Ile313Asn) n.641T>A c.806T>A (p.Ile269Asn) c.557-2572T>A (n.557-2572T>A) n.283-8080T>A c.19T>A c.791T>A (p.Ile264Asn) | gnomAD v4 |
| 15 | g.67184793T>C | CA392956991 | SMAD3 | c.353T>C (p.Ile118Thr) c.623T>C (p.Ile208Thr) c.938T>C (p.Ile313Thr) n.641T>C c.806T>C (p.Ile269Thr) c.557-2572T>C (n.557-2572T>C) n.283-8080T>C c.19T>C c.791T>C (p.Ile264Thr) | |
| 15 | g.67184793T>G | CA392956989 | SMAD3 | c.353T>G (p.Ile118Ser) c.623T>G (p.Ile208Ser) c.938T>G (p.Ile313Ser) n.641T>G c.806T>G (p.Ile269Ser) c.557-2572T>G (n.557-2572T>G) n.283-8080T>G c.19T>G c.791T>G (p.Ile264Ser) | |
| 15 | g.67184797dup | CA645585102 | SMAD3 | c.357dup (p.Val120CysfsTer7) c.627dup (p.Val210CysfsTer7) c.942dup (p.Val315CysfsTer7) n.645dup c.810dup (p.Val271CysfsTer7) c.557-2568dup (n.557-2568dup) n.283-8076dup c.23dup c.795dup (p.Val266CysfsTer7) | COSMIC COSMIC |
| 15 | g.67184797del | CA323883 | SMAD3 | c.357del (p.Phe119LeufsTer27) c.627del (p.Phe209LeufsTer27) c.942del (p.Phe314LeufsTer?) c.942del (p.Phe314LeufsTer27) n.645del c.810del (p.Phe270LeufsTer27) c.557-2568del (n.557-2568del) n.283-8076del c.23del c.795del (p.Phe265LeufsTer27) | ClinVar dbSNP |
| 15 | g.67184794T>A | CA490916528 | SMAD3 | c.354T>A (p.Ile118=) c.624T>A (p.Ile208=) c.939T>A (p.Ile313=) n.642T>A c.807T>A (p.Ile269=) c.557-2571T>A (n.557-2571T>A) n.283-8079T>A c.20T>A c.792T>A (p.Ile264=) | |
| 15 | g.67184794T>C | CA490916529 | SMAD3 | c.354T>C (p.Ile118=) c.624T>C (p.Ile208=) c.939T>C (p.Ile313=) n.642T>C c.807T>C (p.Ile269=) c.557-2571T>C (n.557-2571T>C) n.283-8079T>C c.20T>C c.792T>C (p.Ile264=) | |
| 15 | g.67184794T>G | CA392956993 | SMAD3 | c.354T>G (p.Ile118Met) c.624T>G (p.Ile208Met) c.939T>G (p.Ile313Met) n.642T>G c.807T>G (p.Ile269Met) c.557-2571T>G (n.557-2571T>G) n.283-8079T>G c.20T>G c.792T>G (p.Ile264Met) | |
| 15 | g.67184795T>A | CA392956997 | SMAD3 | c.355T>A (p.Phe119Ile) c.625T>A (p.Phe209Ile) c.940T>A (p.Phe314Ile) n.643T>A c.808T>A (p.Phe270Ile) c.557-2570T>A (n.557-2570T>A) n.283-8078T>A c.21T>A c.793T>A (p.Phe265Ile) | |
| 15 | g.67184795T>C | CA392957000 | SMAD3 | c.355T>C (p.Phe119Leu) c.625T>C (p.Phe209Leu) c.940T>C (p.Phe314Leu) n.643T>C c.808T>C (p.Phe270Leu) c.557-2570T>C (n.557-2570T>C) n.283-8078T>C c.21T>C c.793T>C (p.Phe265Leu) | |
| 15 | g.67184795T>G | CA392957002 | SMAD3 | c.355T>G (p.Phe119Val) c.625T>G (p.Phe209Val) c.940T>G (p.Phe314Val) n.643T>G c.808T>G (p.Phe270Val) c.557-2570T>G (n.557-2570T>G) n.283-8078T>G c.21T>G c.793T>G (p.Phe265Val) | |
| 15 | g.67184796T>A | CA392957005 | SMAD3 | c.356T>A (p.Phe119Tyr) c.626T>A (p.Phe209Tyr) c.941T>A (p.Phe314Tyr) n.644T>A c.809T>A (p.Phe270Tyr) c.557-2569T>A (n.557-2569T>A) n.283-8077T>A c.22T>A c.794T>A (p.Phe265Tyr) | |
| 15 | g.67184796T>C | CA392957007 | SMAD3 | c.356T>C (p.Phe119Ser) c.626T>C (p.Phe209Ser) c.941T>C (p.Phe314Ser) n.644T>C c.809T>C (p.Phe270Ser) c.557-2569T>C (n.557-2569T>C) n.283-8077T>C c.22T>C c.794T>C (p.Phe265Ser) | |
| 15 | g.67184796T>G | CA392957010 | SMAD3 | c.356T>G (p.Phe119Cys) c.626T>G (p.Phe209Cys) c.941T>G (p.Phe314Cys) n.644T>G c.809T>G (p.Phe270Cys) c.557-2569T>G (n.557-2569T>G) n.283-8077T>G c.22T>G c.794T>G (p.Phe265Cys) | |
| 15 | g.67184797T>A | CA392957013 | SMAD3 | c.357T>A (p.Phe119Leu) c.627T>A (p.Phe209Leu) c.942T>A (p.Phe314Leu) n.645T>A c.810T>A (p.Phe270Leu) c.557-2568T>A (n.557-2568T>A) n.283-8076T>A c.23T>A c.795T>A (p.Phe265Leu) | |
| 15 | g.67184797T>C | CA490916534 | SMAD3 | c.357T>C (p.Phe119=) c.627T>C (p.Phe209=) c.942T>C (p.Phe314=) n.645T>C c.810T>C (p.Phe270=) c.557-2568T>C (n.557-2568T>C) n.283-8076T>C c.23T>C c.795T>C (p.Phe265=) | gnomAD v4 |
| 15 | g.67184797T>G | CA392957014 | SMAD3 | c.357T>G (p.Phe119Leu) c.627T>G (p.Phe209Leu) c.942T>G (p.Phe314Leu) n.645T>G c.810T>G (p.Phe270Leu) c.557-2568T>G (n.557-2568T>G) n.283-8076T>G c.23T>G c.795T>G (p.Phe265Leu) | |
| 15 | g.67184798G>A | CA392957019 | SMAD3 | c.358G>A (p.Val120Ile) c.628G>A (p.Val210Ile) c.943G>A (p.Val315Ile) n.646G>A c.811G>A (p.Val271Ile) c.557-2567G>A (n.557-2567G>A) n.283-8075G>A c.24G>A c.796G>A (p.Val266Ile) | ClinVar dbSNP gnomAD v4 |
| 15 | g.67184798G>C | CA392957022 | SMAD3 | c.358G>C (p.Val120Leu) c.628G>C (p.Val210Leu) c.943G>C (p.Val315Leu) n.646G>C c.811G>C (p.Val271Leu) c.557-2567G>C (n.557-2567G>C) n.283-8075G>C c.24G>C c.796G>C (p.Val266Leu) | |
| 15 | g.67184798G= | CA2184419291 | SMAD3 | c.358G= (p.Val120=) c.628G= (p.Val210=) c.943G= (p.Val315=) n.646G= c.811G= (p.Val271=) c.557-2567G= (n.557-2567G=) n.283-8075G= c.24G= c.796G= (p.Val266=) | |
| 15 | g.67184798G>T | CA392957016 | SMAD3 | c.358G>T (p.Val120Phe) c.628G>T (p.Val210Phe) c.943G>T (p.Val315Phe) n.646G>T c.811G>T (p.Val271Phe) c.557-2567G>T (n.557-2567G>T) n.283-8075G>T c.24G>T c.796G>T (p.Val266Phe) | ClinVar dbSNP gnomAD v4 |
| 15 | g.67184799T>A | CA392957025 | SMAD3 | c.359T>A (p.Val120Asp) c.629T>A (p.Val210Asp) c.944T>A (p.Val315Asp) n.647T>A c.812T>A (p.Val271Asp) c.557-2566T>A (n.557-2566T>A) n.283-8074T>A c.25T>A c.797T>A (p.Val266Asp) | |
| 15 | g.67184799T>C | CA392957027 | SMAD3 | c.359T>C (p.Val120Ala) c.629T>C (p.Val210Ala) c.944T>C (p.Val315Ala) n.647T>C c.812T>C (p.Val271Ala) c.557-2566T>C (n.557-2566T>C) n.283-8074T>C c.25T>C c.797T>C (p.Val266Ala) | |
| 15 | g.67184799T>G | CA392957029 | SMAD3 | c.359T>G (p.Val120Gly) c.629T>G (p.Val210Gly) c.944T>G (p.Val315Gly) n.647T>G c.812T>G (p.Val271Gly) c.557-2566T>G (n.557-2566T>G) n.283-8074T>G c.25T>G c.797T>G (p.Val266Gly) | |
| 15 | g.67184800C>A | CA490916541 | SMAD3 | c.360C>A (p.Val120=) c.630C>A (p.Val210=) c.945C>A (p.Val315=) n.648C>A c.813C>A (p.Val271=) c.557-2565C>A (n.557-2565C>A) n.283-8073C>A c.26C>A c.798C>A (p.Val266=) | |
| 15 | g.67184800C= | CA2184419297 | SMAD3 | c.360C= (p.Val120=) c.630C= (p.Val210=) c.945C= (p.Val315=) n.648C= c.813C= (p.Val271=) c.557-2565C= (n.557-2565C=) n.283-8073C= c.26C= c.798C= (p.Val266=) | |
| 15 | g.67184800C>G | CA490916539 | SMAD3 | c.360C>G (p.Val120=) c.630C>G (p.Val210=) c.945C>G (p.Val315=) n.648C>G c.813C>G (p.Val271=) c.557-2565C>G (n.557-2565C>G) n.283-8073C>G c.26C>G c.798C>G (p.Val266=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.67184800C>T | CA490916540 | SMAD3 | c.360C>T (p.Val120=) c.630C>T (p.Val210=) c.945C>T (p.Val315=) n.648C>T c.813C>T (p.Val271=) c.557-2565C>T (n.557-2565C>T) n.283-8073C>T c.26C>T c.798C>T (p.Val266=) | |
| 15 | g.67184801C>A | CA392957032 | SMAD3 | c.361C>A (p.Gln121Lys) c.631C>A (p.Gln211Lys) c.946C>A (p.Gln316Lys) n.649C>A c.814C>A (p.Gln272Lys) c.557-2564C>A (n.557-2564C>A) n.283-8072C>A c.27C>A c.799C>A (p.Gln267Lys) | |
| 15 | g.67184801C= | CA2184419307 | SMAD3 | c.361C= (p.Gln121=) c.631C= (p.Gln211=) c.946C= (p.Gln316=) n.649C= c.814C= (p.Gln272=) c.557-2564C= (n.557-2564C=) n.283-8072C= c.27C= c.799C= (p.Gln267=) | |
| 15 | g.67184801C>G | CA392957035 | SMAD3 | c.361C>G (p.Gln121Glu) c.631C>G (p.Gln211Glu) c.946C>G (p.Gln316Glu) n.649C>G c.814C>G (p.Gln272Glu) c.557-2564C>G (n.557-2564C>G) n.283-8072C>G c.27C>G c.799C>G (p.Gln267Glu) | |
| 15 | g.67184801C>T | CA392957037 | SMAD3 | c.361C>T (p.Gln121Ter) c.631C>T (p.Gln211Ter) c.946C>T (p.Gln316Ter) n.649C>T c.814C>T (p.Gln272Ter) c.557-2564C>T (n.557-2564C>T) n.283-8072C>T c.27C>T c.799C>T (p.Gln267Ter) | ClinVar dbSNP COSMIC COSMIC |
| 15 | g.67184802A= | CA2184419309 | SMAD3 | c.362A= (p.Gln121=) c.632A= (p.Gln211=) c.947A= (p.Gln316=) n.650A= c.815A= (p.Gln272=) c.557-2563A= (n.557-2563A=) n.283-8071A= c.28A= c.800A= (p.Gln267=) | |
| 15 | g.67184802A>C | CA324543 | SMAD3 | c.362A>C (p.Gln121Pro) c.632A>C (p.Gln211Pro) c.947A>C (p.Gln316Pro) n.650A>C c.815A>C (p.Gln272Pro) c.557-2563A>C (n.557-2563A>C) n.283-8071A>C c.28A>C c.800A>C (p.Gln267Pro) | ClinVar dbSNP |
| 15 | g.67184802A>G | CA392957042 | SMAD3 | c.362A>G (p.Gln121Arg) c.632A>G (p.Gln211Arg) c.947A>G (p.Gln316Arg) n.650A>G c.815A>G (p.Gln272Arg) c.557-2563A>G (n.557-2563A>G) n.283-8071A>G c.28A>G c.800A>G (p.Gln267Arg) | ClinVar |
| 15 | g.67184802A>T | CA392957044 | SMAD3 | c.362A>T (p.Gln121Leu) c.632A>T (p.Gln211Leu) c.947A>T (p.Gln316Leu) n.650A>T c.815A>T (p.Gln272Leu) c.557-2563A>T (n.557-2563A>T) n.283-8071A>T c.28A>T c.800A>T (p.Gln267Leu) | |
| 15 | g.67184803G>A | CA490916544 | SMAD3 | c.363G>A (p.Gln121=) c.633G>A (p.Gln211=) c.948G>A (p.Gln316=) n.651G>A c.816G>A (p.Gln272=) c.557-2562G>A (n.557-2562G>A) n.283-8070G>A c.29G>A c.801G>A (p.Gln267=) | COSMIC COSMIC |
| 15 | g.67184803G>C | CA392957048 | SMAD3 | c.363G>C (p.Gln121His) c.633G>C (p.Gln211His) c.948G>C (p.Gln316His) n.651G>C c.816G>C (p.Gln272His) c.557-2562G>C (n.557-2562G>C) n.283-8070G>C c.29G>C c.801G>C (p.Gln267His) | |
| 15 | g.67184803G>T | CA392957050 | SMAD3 | c.363G>T (p.Gln121His) c.633G>T (p.Gln211His) c.948G>T (p.Gln316His) n.651G>T c.816G>T (p.Gln272His) c.557-2562G>T (n.557-2562G>T) n.283-8070G>T c.29G>T c.801G>T (p.Gln267His) | |
| 15 | g.67184804T>A | CA392957054 | SMAD3 | c.364T>A (p.Ser122Thr) c.634T>A (p.Ser212Thr) c.949T>A (p.Ser317Thr) n.652T>A c.817T>A (p.Ser273Thr) c.557-2561T>A (n.557-2561T>A) n.283-8069T>A c.30T>A c.802T>A (p.Ser268Thr) | |
| 15 | g.67184804T>C | CA392957055 | SMAD3 | c.364T>C (p.Ser122Pro) c.634T>C (p.Ser212Pro) c.949T>C (p.Ser317Pro) n.652T>C c.817T>C (p.Ser273Pro) c.557-2561T>C (n.557-2561T>C) n.283-8069T>C c.30T>C c.802T>C (p.Ser268Pro) | |
| 15 | g.67184804T>G | CA392957057 | SMAD3 | c.364T>G (p.Ser122Ala) c.634T>G (p.Ser212Ala) c.949T>G (p.Ser317Ala) n.652T>G c.817T>G (p.Ser273Ala) c.557-2561T>G (n.557-2561T>G) n.283-8069T>G c.30T>G c.802T>G (p.Ser268Ala) | gnomAD v4 |
| 15 | g.67184805C>A | CA392957060 | SMAD3 | c.365C>A (p.Ser122Tyr) c.635C>A (p.Ser212Tyr) c.950C>A (p.Ser317Tyr) n.653C>A c.818C>A (p.Ser273Tyr) c.557-2560C>A (n.557-2560C>A) n.283-8068C>A c.31C>A c.803C>A (p.Ser268Tyr) | |
| 15 | g.67184805C>G | CA392957065 | SMAD3 | c.365C>G (p.Ser122Cys) c.635C>G (p.Ser212Cys) c.950C>G (p.Ser317Cys) n.653C>G c.818C>G (p.Ser273Cys) c.557-2560C>G (n.557-2560C>G) n.283-8068C>G c.31C>G c.803C>G (p.Ser268Cys) | COSMIC COSMIC |
| 15 | g.67184805C>T | CA392957063 | SMAD3 | c.365C>T (p.Ser122Phe) c.635C>T (p.Ser212Phe) c.950C>T (p.Ser317Phe) n.653C>T c.818C>T (p.Ser273Phe) c.557-2560C>T (n.557-2560C>T) n.283-8068C>T c.31C>T c.803C>T (p.Ser268Phe) | |
| 15 | g.67184806T>A | CA490916553 | SMAD3 | c.366T>A (p.Ser122=) c.636T>A (p.Ser212=) c.951T>A (p.Ser317=) n.654T>A c.819T>A (p.Ser273=) c.557-2559T>A (n.557-2559T>A) n.283-8067T>A c.32T>A c.804T>A (p.Ser268=) | |
| 15 | g.67184806T>C | CA490916552 | SMAD3 | c.366T>C (p.Ser122=) c.636T>C (p.Ser212=) c.951T>C (p.Ser317=) n.654T>C c.819T>C (p.Ser273=) c.557-2559T>C (n.557-2559T>C) n.283-8067T>C c.32T>C c.804T>C (p.Ser268=) | gnomAD v4 |
| 15 | g.67184806T>G | CA490916551 | SMAD3 | c.366T>G (p.Ser122=) c.636T>G (p.Ser212=) c.951T>G (p.Ser317=) n.654T>G c.819T>G (p.Ser273=) c.557-2559T>G (n.557-2559T>G) n.283-8067T>G c.32T>G c.804T>G (p.Ser268=) | |
| 15 | g.67184807C>A | CA392957067 | SMAD3 | c.367C>A (p.Pro123Thr) c.637C>A (p.Pro213Thr) c.952C>A (p.Pro318Thr) n.655C>A c.820C>A (p.Pro274Thr) c.557-2558C>A (n.557-2558C>A) n.283-8066C>A c.33C>A c.805C>A (p.Pro269Thr) | |
| 15 | g.67184807C>G | CA392957070 | SMAD3 | c.367C>G (p.Pro123Ala) c.637C>G (p.Pro213Ala) c.952C>G (p.Pro318Ala) n.655C>G c.820C>G (p.Pro274Ala) c.557-2558C>G (n.557-2558C>G) n.283-8066C>G c.33C>G c.805C>G (p.Pro269Ala) | |
| 15 | g.67184807C>T | CA392957072 | SMAD3 | c.367C>T (p.Pro123Ser) c.637C>T (p.Pro213Ser) c.952C>T (p.Pro318Ser) n.655C>T c.820C>T (p.Pro274Ser) c.557-2558C>T (n.557-2558C>T) n.283-8066C>T c.33C>T c.805C>T (p.Pro269Ser) | |
| 15 | g.67184808C>A | CA392957075 | SMAD3 | c.368C>A (p.Pro123His) c.638C>A (p.Pro213His) c.953C>A (p.Pro318His) n.656C>A c.821C>A (p.Pro274His) c.557-2557C>A (n.557-2557C>A) n.283-8065C>A c.34C>A c.806C>A (p.Pro269His) | |
| 15 | g.67184808C>G | CA392957077 | SMAD3 | c.368C>G (p.Pro123Arg) c.638C>G (p.Pro213Arg) c.953C>G (p.Pro318Arg) n.656C>G c.821C>G (p.Pro274Arg) c.557-2557C>G (n.557-2557C>G) n.283-8065C>G c.34C>G c.806C>G (p.Pro269Arg) | |
| 15 | g.67184808C>T | CA392957080 | SMAD3 | c.368C>T (p.Pro123Leu) c.638C>T (p.Pro213Leu) c.953C>T (p.Pro318Leu) n.656C>T c.821C>T (p.Pro274Leu) c.557-2557C>T (n.557-2557C>T) n.283-8065C>T c.34C>T c.806C>T (p.Pro269Leu) | |
| 15 | g.67184809C>A | CA490916557 | SMAD3 | c.369C>A (p.Pro123=) c.639C>A (p.Pro213=) c.954C>A (p.Pro318=) n.657C>A c.822C>A (p.Pro274=) c.557-2556C>A (n.557-2556C>A) n.283-8064C>A c.35C>A c.807C>A (p.Pro269=) | dbSNP |
| 15 | g.67184809C>G | CA490916559 | SMAD3 | c.369C>G (p.Pro123=) c.639C>G (p.Pro213=) c.954C>G (p.Pro318=) n.657C>G c.822C>G (p.Pro274=) c.557-2556C>G (n.557-2556C>G) n.283-8064C>G c.35C>G c.807C>G (p.Pro269=) | |
| 15 | g.67184809C>T | CA490916558 | SMAD3 | c.369C>T (p.Pro123=) c.639C>T (p.Pro213=) c.954C>T (p.Pro318=) n.657C>T c.822C>T (p.Pro274=) c.557-2556C>T (n.557-2556C>T) n.283-8064C>T c.35C>T c.807C>T (p.Pro269=) | |
| 15 | g.67184810A= | CA2184419316 | SMAD3 | c.370A= (p.Asn124=) c.640A= (p.Asn214=) c.955A= (p.Asn319=) n.658A= c.823A= (p.Asn275=) c.557-2555A= (n.557-2555A=) n.283-8063A= c.36A= c.808A= (p.Asn270=) | |
| 15 | g.67184810A>C | CA392957082 | SMAD3 | c.370A>C (p.Asn124His) c.640A>C (p.Asn214His) c.955A>C (p.Asn319His) n.658A>C c.823A>C (p.Asn275His) c.557-2555A>C (n.557-2555A>C) n.283-8063A>C c.36A>C c.808A>C (p.Asn270His) | |
| 15 | g.67184810A>G | CA392957085 | SMAD3 | c.370A>G (p.Asn124Asp) c.640A>G (p.Asn214Asp) c.955A>G (p.Asn319Asp) n.658A>G c.823A>G (p.Asn275Asp) c.557-2555A>G (n.557-2555A>G) n.283-8063A>G c.36A>G c.808A>G (p.Asn270Asp) | ClinVar dbSNP |
| 15 | g.67184810A>T | CA392957087 | SMAD3 | c.370A>T (p.Asn124Tyr) c.640A>T (p.Asn214Tyr) c.955A>T (p.Asn319Tyr) n.658A>T c.823A>T (p.Asn275Tyr) c.557-2555A>T (n.557-2555A>T) n.283-8063A>T c.36A>T c.808A>T (p.Asn270Tyr) | |
| 15 | g.67184811A= | CA2184419324 | SMAD3 | c.371A= (p.Asn124=) c.641A= (p.Asn214=) c.956A= (p.Asn319=) n.659A= c.824A= (p.Asn275=) c.557-2554A= (n.557-2554A=) n.283-8062A= c.37A= c.809A= (p.Asn270=) | |
| 15 | g.67184811A>C | CA392957090 | SMAD3 | c.371A>C (p.Asn124Thr) c.641A>C (p.Asn214Thr) c.956A>C (p.Asn319Thr) n.659A>C c.824A>C (p.Asn275Thr) c.557-2554A>C (n.557-2554A>C) n.283-8062A>C c.37A>C c.809A>C (p.Asn270Thr) | |
| 15 | g.67184811A>G | CA16607848 | SMAD3 | c.371A>G (p.Asn124Ser) c.641A>G (p.Asn214Ser) c.956A>G (p.Asn319Ser) n.659A>G c.824A>G (p.Asn275Ser) c.557-2554A>G (n.557-2554A>G) n.283-8062A>G c.37A>G c.809A>G (p.Asn270Ser) | ClinVar dbSNP |
| 15 | g.67184811A>T | CA392957093 | SMAD3 | c.371A>T (p.Asn124Ile) c.641A>T (p.Asn214Ile) c.956A>T (p.Asn319Ile) n.659A>T c.824A>T (p.Asn275Ile) c.557-2554A>T (n.557-2554A>T) n.283-8062A>T c.37A>T c.809A>T (p.Asn270Ile) | |
| 15 | g.67184812C>A | CA392957098 | SMAD3 | c.372C>A (p.Asn124Lys) c.642C>A (p.Asn214Lys) c.957C>A (p.Asn319Lys) n.660C>A c.825C>A (p.Asn275Lys) c.557-2553C>A (n.557-2553C>A) n.283-8061C>A c.38C>A c.810C>A (p.Asn270Lys) | |
| 15 | g.67184812C= | CA2184419329 | SMAD3 | c.372C= (p.Asn124=) c.642C= (p.Asn214=) c.957C= (p.Asn319=) n.660C= c.825C= (p.Asn275=) c.557-2553C= (n.557-2553C=) n.283-8061C= c.38C= c.810C= (p.Asn270=) | |
| 15 | g.67184812C>G | CA392957096 | SMAD3 | c.372C>G (p.Asn124Lys) c.642C>G (p.Asn214Lys) c.957C>G (p.Asn319Lys) n.660C>G c.825C>G (p.Asn275Lys) c.557-2553C>G (n.557-2553C>G) n.283-8061C>G c.38C>G c.810C>G (p.Asn270Lys) | |
| 15 | g.67184812C>T | CA490916561 | SMAD3 | c.372C>T (p.Asn124=) c.642C>T (p.Asn214=) c.957C>T (p.Asn319=) n.660C>T c.825C>T (p.Asn275=) c.557-2553C>T (n.557-2553C>T) n.283-8061C>T c.38C>T c.810C>T (p.Asn270=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.67184812_67184814delinsCTG | CA2184419331 | SMAD3 | c.372_374delinsCTG (p.Asn124=) c.642_644delinsCTG (p.Asn214=) c.957_959delinsCTG (p.Asn319=) n.660_662delinsCTG c.825_827delinsCTG (p.Asn275=) c.557-2553_557-2551delinsCTG (n.557-2553_557-2551delinsCTG) n.283-8061_283-8059delinsCTG c.38_40delinsCTG c.810_812delinsCTG (p.Asn270=) | |
| 15 | g.67184813T>A | CA392957100 | SMAD3 | c.373T>A (p.Cys125Ser) c.643T>A (p.Cys215Ser) c.958T>A (p.Cys320Ser) n.661T>A c.826T>A (p.Cys276Ser) c.557-2552T>A (n.557-2552T>A) n.283-8060T>A c.39T>A c.811T>A (p.Cys271Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.67184813T>C | CA392957104 | SMAD3 | c.373T>C (p.Cys125Arg) c.643T>C (p.Cys215Arg) c.958T>C (p.Cys320Arg) n.661T>C c.826T>C (p.Cys276Arg) c.557-2552T>C (n.557-2552T>C) n.283-8060T>C c.39T>C c.811T>C (p.Cys271Arg) | |
| 15 | g.67184813T>G | CA392957103 | SMAD3 | c.373T>G (p.Cys125Gly) c.643T>G (p.Cys215Gly) c.958T>G (p.Cys320Gly) n.661T>G c.826T>G (p.Cys276Gly) c.557-2552T>G (n.557-2552T>G) n.283-8060T>G c.39T>G c.811T>G (p.Cys271Gly) | |
| 15 | g.67184813T= | CA2184419333 | SMAD3 | c.373T= (p.Cys125=) c.643T= (p.Cys215=) c.958T= (p.Cys320=) n.661T= c.826T= (p.Cys276=) c.557-2552T= (n.557-2552T=) n.283-8060T= c.39T= c.811T= (p.Cys271=) | |
| 15 | g.67184814_67184815del | CA970998479 | SMAD3 | c.374_375del (p.Cys125Ter) c.644_645del (p.Cys215Ter) c.959_960del (p.Cys320Ter) n.662_663del c.827_828del (p.Cys276Ter) c.557-2551_557-2550del (n.557-2551_557-2550del) n.283-8059_283-8058del c.40_41del c.812_813del (p.Cys271Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.67184814G>A | CA392957108 | SMAD3 | c.374G>A (p.Cys125Tyr) c.644G>A (p.Cys215Tyr) c.959G>A (p.Cys320Tyr) n.662G>A c.827G>A (p.Cys276Tyr) c.557-2551G>A (n.557-2551G>A) n.283-8059G>A c.40G>A c.812G>A (p.Cys271Tyr) | dbSNP |
| 15 | g.67184814G>C | CA392957110 | SMAD3 | c.374G>C (p.Cys125Ser) c.644G>C (p.Cys215Ser) c.959G>C (p.Cys320Ser) n.662G>C c.827G>C (p.Cys276Ser) c.557-2551G>C (n.557-2551G>C) n.283-8059G>C c.40G>C c.812G>C (p.Cys271Ser) | |
| 15 | g.67184814G>T | CA392957112 | SMAD3 | c.374G>T (p.Cys125Phe) c.644G>T (p.Cys215Phe) c.959G>T (p.Cys320Phe) n.662G>T c.827G>T (p.Cys276Phe) c.557-2551G>T (n.557-2551G>T) n.283-8059G>T c.40G>T c.812G>T (p.Cys271Phe) | |
| 15 | g.67184814_67184827delinsGTAACCAGCGCTAT | CA2184419337 | SMAD3 | c.374_387delinsGTAACCAGCGCTAT (p.Cys125=) c.644_657delinsGTAACCAGCGCTAT (p.Cys215=) c.959_972delinsGTAACCAGCGCTAT (p.Cys320=) n.662_675delinsGTAACCAGCGCTAT c.827_840delinsGTAACCAGCGCTAT (p.Cys276=) c.557-2551_557-2538delinsGTAACCAGCGCTAT (n.557-2551_557-2538delinsGTAACCAGCGCTAT) n.283-8059_283-8046delinsGTAACCAGCGCTAT c.40_53delinsGTAACCAGCGCTAT c.812_825delinsGTAACCAGCGCTAT (p.Cys271=) | |
| 15 | g.67184815T>A | CA392957114 | SMAD3 | c.375T>A (p.Cys125Ter) c.645T>A (p.Cys215Ter) c.960T>A (p.Cys320Ter) n.663T>A c.828T>A (p.Cys276Ter) c.557-2550T>A (n.557-2550T>A) n.283-8058T>A c.41T>A c.813T>A (p.Cys271Ter) | |
| 15 | g.67184815T>C | CA490916566 | SMAD3 | c.375T>C (p.Cys125=) c.645T>C (p.Cys215=) c.960T>C (p.Cys320=) n.663T>C c.828T>C (p.Cys276=) c.557-2550T>C (n.557-2550T>C) n.283-8058T>C c.41T>C c.813T>C (p.Cys271=) | |
| 15 | g.67184815T>G | CA392957116 | SMAD3 | c.375T>G (p.Cys125Trp) c.645T>G (p.Cys215Trp) c.960T>G (p.Cys320Trp) n.663T>G c.828T>G (p.Cys276Trp) c.557-2550T>G (n.557-2550T>G) n.283-8058T>G c.41T>G c.813T>G (p.Cys271Trp) | |
| 15 | g.67184815_67184827delinsGACACC | CA891843529 | SMAD3 | c.375_387delinsGACACC (p.Cys125TrpfsTer19) c.645_657delinsGACACC (p.Cys215TrpfsTer19) c.960_972delinsGACACC (p.Cys320TrpfsTer?) c.960_972delinsGACACC (p.Cys320TrpfsTer19) n.663_675delinsGACACC c.828_840delinsGACACC (p.Cys276TrpfsTer19) c.557-2550_557-2538delinsGACACC (n.557-2550_557-2538delinsGACACC) n.283-8058_283-8046delinsGACACC c.41_53delinsGACACC c.813_825delinsGACACC (p.Cys271TrpfsTer19) | ClinVar dbSNP |
| 15 | g.67184816A>C | CA392957119 | SMAD3 | c.376A>C (p.Asn126His) c.646A>C (p.Asn216His) c.961A>C (p.Asn321His) n.664A>C c.829A>C (p.Asn277His) c.557-2549A>C (n.557-2549A>C) n.283-8057A>C c.42A>C c.814A>C (p.Asn272His) | |
| 15 | g.67184816A>G | CA392957121 | SMAD3 | c.376A>G (p.Asn126Asp) c.646A>G (p.Asn216Asp) c.961A>G (p.Asn321Asp) n.664A>G c.829A>G (p.Asn277Asp) c.557-2549A>G (n.557-2549A>G) n.283-8057A>G c.42A>G c.814A>G (p.Asn272Asp) | |
| 15 | g.67184816A>T | CA392957123 | SMAD3 | c.376A>T (p.Asn126Tyr) c.646A>T (p.Asn216Tyr) c.961A>T (p.Asn321Tyr) n.664A>T c.829A>T (p.Asn277Tyr) c.557-2549A>T (n.557-2549A>T) n.283-8057A>T c.42A>T c.814A>T (p.Asn272Tyr) | |
| 15 | g.67184817A>C | CA392957126 | SMAD3 | c.377A>C (p.Asn126Thr) c.647A>C (p.Asn216Thr) c.962A>C (p.Asn321Thr) n.665A>C c.830A>C (p.Asn277Thr) c.557-2548A>C (n.557-2548A>C) n.283-8056A>C c.43A>C c.815A>C (p.Asn272Thr) | |
| 15 | g.67184817A>G | CA392957129 | SMAD3 | c.377A>G (p.Asn126Ser) c.647A>G (p.Asn216Ser) c.962A>G (p.Asn321Ser) n.665A>G c.830A>G (p.Asn277Ser) c.557-2548A>G (n.557-2548A>G) n.283-8056A>G c.43A>G c.815A>G (p.Asn272Ser) | gnomAD v4 |
| 15 | g.67184817A>T | CA392957130 | SMAD3 | c.377A>T (p.Asn126Ile) c.647A>T (p.Asn216Ile) c.962A>T (p.Asn321Ile) n.665A>T c.830A>T (p.Asn277Ile) c.557-2548A>T (n.557-2548A>T) n.283-8056A>T c.43A>T c.815A>T (p.Asn272Ile) | |
| 15 | g.67184818C>A | CA392957134 | SMAD3 | c.378C>A (p.Asn126Lys) c.648C>A (p.Asn216Lys) c.963C>A (p.Asn321Lys) n.666C>A c.831C>A (p.Asn277Lys) c.557-2547C>A (n.557-2547C>A) n.283-8055C>A c.44C>A c.816C>A (p.Asn272Lys) | |
| 15 | g.67184818C>G | CA392957137 | SMAD3 | c.378C>G (p.Asn126Lys) c.648C>G (p.Asn216Lys) c.963C>G (p.Asn321Lys) n.666C>G c.831C>G (p.Asn277Lys) c.557-2547C>G (n.557-2547C>G) n.283-8055C>G c.44C>G c.816C>G (p.Asn272Lys) | |
| 15 | g.67184818C>T | CA490916567 | SMAD3 | c.378C>T (p.Asn126=) c.648C>T (p.Asn216=) c.963C>T (p.Asn321=) n.666C>T c.831C>T (p.Asn277=) c.557-2547C>T (n.557-2547C>T) n.283-8055C>T c.44C>T c.816C>T (p.Asn272=) | |
| 15 | g.67184819C>A | CA392957150 | SMAD3 | c.379C>A (p.Gln127Lys) c.649C>A (p.Gln217Lys) c.964C>A (p.Gln322Lys) n.667C>A c.832C>A (p.Gln278Lys) c.557-2546C>A (n.557-2546C>A) n.283-8054C>A c.45C>A c.817C>A (p.Gln273Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.67184819C= | CA2184419343 | SMAD3 | c.379C= (p.Gln127=) c.649C= (p.Gln217=) c.964C= (p.Gln322=) n.667C= c.832C= (p.Gln278=) c.557-2546C= (n.557-2546C=) n.283-8054C= c.45C= c.817C= (p.Gln273=) | |
| 15 | g.67184819C>G | CA392957148 | SMAD3 | c.379C>G (p.Gln127Glu) c.649C>G (p.Gln217Glu) c.964C>G (p.Gln322Glu) n.667C>G c.832C>G (p.Gln278Glu) c.557-2546C>G (n.557-2546C>G) n.283-8054C>G c.45C>G c.817C>G (p.Gln273Glu) | |
| 15 | g.67184819C>T | CA392957145 | SMAD3 | c.379C>T (p.Gln127Ter) c.649C>T (p.Gln217Ter) c.964C>T (p.Gln322Ter) n.667C>T c.832C>T (p.Gln278Ter) c.557-2546C>T (n.557-2546C>T) n.283-8054C>T c.45C>T c.817C>T (p.Gln273Ter) | ClinVar dbSNP |
| 15 | g.67184820A>C | CA392957153 | SMAD3 | c.380A>C (p.Gln127Pro) c.650A>C (p.Gln217Pro) c.965A>C (p.Gln322Pro) n.668A>C c.833A>C (p.Gln278Pro) c.557-2545A>C (n.557-2545A>C) n.283-8053A>C c.46A>C c.818A>C (p.Gln273Pro) | |
| 15 | g.67184820A>G | CA392957155 | SMAD3 | c.380A>G (p.Gln127Arg) c.650A>G (p.Gln217Arg) c.965A>G (p.Gln322Arg) n.668A>G c.833A>G (p.Gln278Arg) c.557-2545A>G (n.557-2545A>G) n.283-8053A>G c.46A>G c.818A>G (p.Gln273Arg) | |
| 15 | g.67184820A>T | CA392957157 | SMAD3 | c.380A>T (p.Gln127Leu) c.650A>T (p.Gln217Leu) c.965A>T (p.Gln322Leu) n.668A>T c.833A>T (p.Gln278Leu) c.557-2545A>T (n.557-2545A>T) n.283-8053A>T c.46A>T c.818A>T (p.Gln273Leu) | |
| 15 | g.67184821G>A | CA490916569 | SMAD3 | c.381G>A (p.Gln127=) c.651G>A (p.Gln217=) c.966G>A (p.Gln322=) n.669G>A c.834G>A (p.Gln278=) c.557-2544G>A (n.557-2544G>A) n.283-8052G>A c.47G>A c.819G>A (p.Gln273=) | |
| 15 | g.67184821G>C | CA392957160 | SMAD3 | c.381G>C (p.Gln127His) c.651G>C (p.Gln217His) c.966G>C (p.Gln322His) n.669G>C c.834G>C (p.Gln278His) c.557-2544G>C (n.557-2544G>C) n.283-8052G>C c.47G>C c.819G>C (p.Gln273His) | |
| 15 | g.67184821G>T | CA392957161 | SMAD3 | c.381G>T (p.Gln127His) c.651G>T (p.Gln217His) c.966G>T (p.Gln322His) n.669G>T c.834G>T (p.Gln278His) c.557-2544G>T (n.557-2544G>T) n.283-8052G>T c.47G>T c.819G>T (p.Gln273His) | |
| 15 | g.67184822C>A | CA392957164 | SMAD3 | c.382C>A (p.Arg128Ser) c.652C>A (p.Arg218Ser) c.967C>A (p.Arg323Ser) n.670C>A c.835C>A (p.Arg279Ser) c.557-2543C>A (n.557-2543C>A) n.283-8051C>A c.48C>A c.820C>A (p.Arg274Ser) | gnomAD v4 |
| 15 | g.67184822C= | CA2184419348 | SMAD3 | c.382C= (p.Arg128=) c.652C= (p.Arg218=) c.967C= (p.Arg323=) n.670C= c.835C= (p.Arg279=) c.557-2543C= (n.557-2543C=) n.283-8051C= c.48C= c.820C= (p.Arg274=) | |
| 15 | g.67184822C>G | CA392957167 | SMAD3 | c.382C>G (p.Arg128Gly) c.652C>G (p.Arg218Gly) c.967C>G (p.Arg323Gly) n.670C>G c.835C>G (p.Arg279Gly) c.557-2543C>G (n.557-2543C>G) n.283-8051C>G c.48C>G c.820C>G (p.Arg274Gly) | |
| 15 | g.67184822C>T | CA272394141 | SMAD3 | c.382C>T (p.Arg128Cys) c.652C>T (p.Arg218Cys) c.967C>T (p.Arg323Cys) n.670C>T c.835C>T (p.Arg279Cys) c.557-2543C>T (n.557-2543C>T) n.283-8051C>T c.48C>T c.820C>T (p.Arg274Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.67184823G>A | CA062868 | SMAD3 | c.383G>A (p.Arg128His) c.653G>A (p.Arg218His) c.968G>A (p.Arg323His) n.671G>A c.836G>A (p.Arg279His) c.557-2542G>A (n.557-2542G>A) n.283-8050G>A c.49G>A c.821G>A (p.Arg274His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.67184823G>C | CA392957171 | SMAD3 | c.383G>C (p.Arg128Pro) c.653G>C (p.Arg218Pro) c.968G>C (p.Arg323Pro) n.671G>C c.836G>C (p.Arg279Pro) c.557-2542G>C (n.557-2542G>C) n.283-8050G>C c.49G>C c.821G>C (p.Arg274Pro) | |
| 15 | g.67184823G= | CA2184419351 | SMAD3 | c.383G= (p.Arg128=) c.653G= (p.Arg218=) c.968G= (p.Arg323=) n.671G= c.836G= (p.Arg279=) c.557-2542G= (n.557-2542G=) n.283-8050G= c.49G= c.821G= (p.Arg274=) | |
| 15 | g.67184823G>T | CA392957172 | SMAD3 | c.383G>T (p.Arg128Leu) c.653G>T (p.Arg218Leu) c.968G>T (p.Arg323Leu) n.671G>T c.836G>T (p.Arg279Leu) c.557-2542G>T (n.557-2542G>T) n.283-8050G>T c.49G>T c.821G>T (p.Arg274Leu) | |
| 15 | g.67184824C>A | CA490916576 | SMAD3 | c.384C>A (p.Arg128=) c.654C>A (p.Arg218=) c.969C>A (p.Arg323=) n.672C>A c.837C>A (p.Arg279=) c.557-2541C>A (n.557-2541C>A) n.283-8049C>A c.50C>A c.822C>A (p.Arg274=) | |
| 15 | g.67184824C>G | CA490916575 | SMAD3 | c.384C>G (p.Arg128=) c.654C>G (p.Arg218=) c.969C>G (p.Arg323=) n.672C>G c.837C>G (p.Arg279=) c.557-2541C>G (n.557-2541C>G) n.283-8049C>G c.50C>G c.822C>G (p.Arg274=) | ClinVar dbSNP |
| 15 | g.67184824C>T | CA490916574 | SMAD3 | c.384C>T (p.Arg128=) c.654C>T (p.Arg218=) c.969C>T (p.Arg323=) n.672C>T c.837C>T (p.Arg279=) c.557-2541C>T (n.557-2541C>T) n.283-8049C>T c.50C>T c.822C>T (p.Arg274=) | |
| 15 | g.67184825T>A | CA392957175 | SMAD3 | c.385T>A (p.Tyr129Asn) c.655T>A (p.Tyr219Asn) c.970T>A (p.Tyr324Asn) n.673T>A c.838T>A (p.Tyr280Asn) c.557-2540T>A (n.557-2540T>A) n.283-8048T>A c.51T>A c.823T>A (p.Tyr275Asn) | |
| 15 | g.67184825T>C | CA392957178 | SMAD3 | c.385T>C (p.Tyr129His) c.655T>C (p.Tyr219His) c.970T>C (p.Tyr324His) n.673T>C c.838T>C (p.Tyr280His) c.557-2540T>C (n.557-2540T>C) n.283-8048T>C c.51T>C c.823T>C (p.Tyr275His) | |
| 15 | g.67184825T>G | CA392957180 | SMAD3 | c.385T>G (p.Tyr129Asp) c.655T>G (p.Tyr219Asp) c.970T>G (p.Tyr324Asp) n.673T>G c.838T>G (p.Tyr280Asp) c.557-2540T>G (n.557-2540T>G) n.283-8048T>G c.51T>G c.823T>G (p.Tyr275Asp) | |
| 15 | g.67184826A= | CA2184419355 | SMAD3 | c.386A= (p.Tyr129=) c.656A= (p.Tyr219=) c.971A= (p.Tyr324=) n.674A= c.839A= (p.Tyr280=) c.557-2539A= (n.557-2539A=) n.283-8047A= c.52A= c.824A= (p.Tyr275=) | |
| 15 | g.67184826A>C | CA392957189 | SMAD3 | c.386A>C (p.Tyr129Ser) c.656A>C (p.Tyr219Ser) c.971A>C (p.Tyr324Ser) n.674A>C c.839A>C (p.Tyr280Ser) c.557-2539A>C (n.557-2539A>C) n.283-8047A>C c.52A>C c.824A>C (p.Tyr275Ser) | |
| 15 | g.67184826A>G | CA392957187 | SMAD3 | c.386A>G (p.Tyr129Cys) c.656A>G (p.Tyr219Cys) c.971A>G (p.Tyr324Cys) n.674A>G c.839A>G (p.Tyr280Cys) c.557-2539A>G (n.557-2539A>G) n.283-8047A>G c.52A>G c.824A>G (p.Tyr275Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.67184826A>T | CA392957184 | SMAD3 | c.386A>T (p.Tyr129Phe) c.656A>T (p.Tyr219Phe) c.971A>T (p.Tyr324Phe) n.674A>T c.839A>T (p.Tyr280Phe) c.557-2539A>T (n.557-2539A>T) n.283-8047A>T c.52A>T c.824A>T (p.Tyr275Phe) | |
| 15 | g.67184827T>A | CA392957191 | SMAD3 | c.387T>A (p.Tyr129Ter) c.657T>A (p.Tyr219Ter) c.972T>A (p.Tyr324Ter) n.675T>A c.840T>A (p.Tyr280Ter) c.557-2538T>A (n.557-2538T>A) n.283-8046T>A c.53T>A c.825T>A (p.Tyr275Ter) | gnomAD v4 |
| 15 | g.67184827T>C | CA490916580 | SMAD3 | c.387T>C (p.Tyr129=) c.657T>C (p.Tyr219=) c.972T>C (p.Tyr324=) n.675T>C c.840T>C (p.Tyr280=) c.557-2538T>C (n.557-2538T>C) n.283-8046T>C c.53T>C c.825T>C (p.Tyr275=) | |
| 15 | g.67184827T>G | CA392957194 | SMAD3 | c.387T>G (p.Tyr129Ter) c.657T>G (p.Tyr219Ter) c.972T>G (p.Tyr324Ter) n.675T>G c.840T>G (p.Tyr280Ter) c.557-2538T>G (n.557-2538T>G) n.283-8046T>G c.53T>G c.825T>G (p.Tyr275Ter) | |
| 15 | g.67184828G>A | CA392957196 | SMAD3 | c.388G>A (p.Gly130Ser) c.658G>A (p.Gly220Ser) c.973G>A (p.Gly325Ser) n.676G>A c.841G>A (p.Gly281Ser) c.557-2537G>A (n.557-2537G>A) n.283-8045G>A c.54G>A c.826G>A (p.Gly276Ser) | |
| 15 | g.67184828G>C | CA392957199 | SMAD3 | c.388G>C (p.Gly130Arg) c.658G>C (p.Gly220Arg) c.973G>C (p.Gly325Arg) n.676G>C c.841G>C (p.Gly281Arg) c.557-2537G>C (n.557-2537G>C) n.283-8045G>C c.54G>C c.826G>C (p.Gly276Arg) | |
| 15 | g.67184828G>T | CA392957201 | SMAD3 | c.388G>T (p.Gly130Cys) c.658G>T (p.Gly220Cys) c.973G>T (p.Gly325Cys) n.676G>T c.841G>T (p.Gly281Cys) c.557-2537G>T (n.557-2537G>T) n.283-8045G>T c.54G>T c.826G>T (p.Gly276Cys) | |
| 15 | g.67184829dup | CA2697549154 | SMAD3 | c.389dup (p.Trp131LeufsTer?) c.659dup (p.Trp221LeufsTer?) c.974dup (p.Trp326LeufsTer?) n.677dup c.842dup (p.Trp282LeufsTer?) c.557-2536dup (n.557-2536dup) n.283-8044dup c.55dup c.827dup (p.Trp277LeufsTer?) | ClinVar |
| 15 | g.67184829G>A | CA392957208 | SMAD3 | c.389G>A (p.Gly130Asp) c.659G>A (p.Gly220Asp) c.974G>A (p.Gly325Asp) n.677G>A c.842G>A (p.Gly281Asp) c.557-2536G>A (n.557-2536G>A) n.283-8044G>A c.55G>A c.827G>A (p.Gly276Asp) | dbSNP COSMIC |
| 15 | g.67184829G>C | CA392957205 | SMAD3 | c.389G>C (p.Gly130Ala) c.659G>C (p.Gly220Ala) c.974G>C (p.Gly325Ala) n.677G>C c.842G>C (p.Gly281Ala) c.557-2536G>C (n.557-2536G>C) n.283-8044G>C c.55G>C c.827G>C (p.Gly276Ala) | |
| 15 | g.67184829G>T | CA392957203 | SMAD3 | c.389G>T (p.Gly130Val) c.659G>T (p.Gly220Val) c.974G>T (p.Gly325Val) n.677G>T c.842G>T (p.Gly281Val) c.557-2536G>T (n.557-2536G>T) n.283-8044G>T c.55G>T c.827G>T (p.Gly276Val) | |
| 15 | g.67184830C>A | CA490916584 | SMAD3 | c.390C>A (p.Gly130=) c.660C>A (p.Gly220=) c.975C>A (p.Gly325=) n.678C>A c.843C>A (p.Gly281=) c.557-2535C>A (n.557-2535C>A) n.283-8043C>A c.56C>A c.828C>A (p.Gly276=) | |
| 15 | g.67184830C>G | CA490916585 | SMAD3 | c.390C>G (p.Gly130=) c.660C>G (p.Gly220=) c.975C>G (p.Gly325=) n.678C>G c.843C>G (p.Gly281=) c.557-2535C>G (n.557-2535C>G) n.283-8043C>G c.56C>G c.828C>G (p.Gly276=) | |
| 15 | g.67184830C>T | CA490916587 | SMAD3 | c.390C>T (p.Gly130=) c.660C>T (p.Gly220=) c.975C>T (p.Gly325=) n.678C>T c.843C>T (p.Gly281=) c.557-2535C>T (n.557-2535C>T) n.283-8043C>T c.56C>T c.828C>T (p.Gly276=) | dbSNP gnomAD v4 |
| 15 | g.67184831T>A | CA392957210 | SMAD3 | c.391T>A (p.Trp131Arg) c.661T>A (p.Trp221Arg) c.976T>A (p.Trp326Arg) n.679T>A c.844T>A (p.Trp282Arg) c.557-2534T>A (n.557-2534T>A) n.283-8042T>A c.57T>A c.829T>A (p.Trp277Arg) | |
| 15 | g.67184831T>C | CA392957211 | SMAD3 | c.391T>C (p.Trp131Arg) c.661T>C (p.Trp221Arg) c.976T>C (p.Trp326Arg) n.679T>C c.844T>C (p.Trp282Arg) c.557-2534T>C (n.557-2534T>C) n.283-8042T>C c.57T>C c.829T>C (p.Trp277Arg) | |
| 15 | g.67184831T>G | CA392957214 | SMAD3 | c.391T>G (p.Trp131Gly) c.661T>G (p.Trp221Gly) c.976T>G (p.Trp326Gly) n.679T>G c.844T>G (p.Trp282Gly) c.557-2534T>G (n.557-2534T>G) n.283-8042T>G c.57T>G c.829T>G (p.Trp277Gly) | |
| 15 | g.67184832G>A | CA392957217 | SMAD3 | c.392G>A (p.Trp131Ter) c.662G>A (p.Trp221Ter) c.977G>A (p.Trp326Ter) n.680G>A c.845G>A (p.Trp282Ter) c.557-2533G>A (n.557-2533G>A) n.283-8041G>A c.58G>A c.830G>A (p.Trp277Ter) | |
| 15 | g.67184832G>C | CA392957219 | SMAD3 | c.392G>C (p.Trp131Ser) c.662G>C (p.Trp221Ser) c.977G>C (p.Trp326Ser) n.680G>C c.845G>C (p.Trp282Ser) c.557-2533G>C (n.557-2533G>C) n.283-8041G>C c.58G>C c.830G>C (p.Trp277Ser) | |
| 15 | g.67184832G>T | CA392957221 | SMAD3 | c.392G>T (p.Trp131Leu) c.662G>T (p.Trp221Leu) c.977G>T (p.Trp326Leu) n.680G>T c.845G>T (p.Trp282Leu) c.557-2533G>T (n.557-2533G>T) n.283-8041G>T c.58G>T c.830G>T (p.Trp277Leu) | |
| 15 | g.67184833G>A | CA392957224 | SMAD3 | c.393G>A (p.Trp131Ter) c.663G>A (p.Trp221Ter) c.978G>A (p.Trp326Ter) n.681G>A c.846G>A (p.Trp282Ter) c.557-2532G>A (n.557-2532G>A) n.283-8040G>A c.59G>A c.831G>A (p.Trp277Ter) | dbSNP |
| 15 | g.67184833G>C | CA392957229 | SMAD3 | c.393G>C (p.Trp131Cys) c.663G>C (p.Trp221Cys) c.978G>C (p.Trp326Cys) n.681G>C c.846G>C (p.Trp282Cys) c.557-2532G>C (n.557-2532G>C) n.283-8040G>C c.59G>C c.831G>C (p.Trp277Cys) | |
| 15 | g.67184833G>T | CA392957226 | SMAD3 | c.393G>T (p.Trp131Cys) c.663G>T (p.Trp221Cys) c.978G>T (p.Trp326Cys) n.681G>T c.846G>T (p.Trp282Cys) c.557-2532G>T (n.557-2532G>T) n.283-8040G>T c.59G>T c.831G>T (p.Trp277Cys) | |
| 15 | g.67184834C>A | CA392957232 | SMAD3 | c.394C>A (p.His132Asn) c.664C>A (p.His222Asn) c.979C>A (p.His327Asn) n.682C>A c.847C>A (p.His283Asn) c.557-2531C>A (n.557-2531C>A) n.283-8039C>A c.60C>A c.832C>A (p.His278Asn) | |
| 15 | g.67184834C>G | CA392957235 | SMAD3 | c.394C>G (p.His132Asp) c.664C>G (p.His222Asp) c.979C>G (p.His327Asp) n.682C>G c.847C>G (p.His283Asp) c.557-2531C>G (n.557-2531C>G) n.283-8039C>G c.60C>G c.832C>G (p.His278Asp) | |
| 15 | g.67184834C>T | CA392957236 | SMAD3 | c.394C>T (p.His132Tyr) c.664C>T (p.His222Tyr) c.979C>T (p.His327Tyr) n.682C>T c.847C>T (p.His283Tyr) c.557-2531C>T (n.557-2531C>T) n.283-8039C>T c.60C>T c.832C>T (p.His278Tyr) | dbSNP |
| 15 | g.67184835A= | CA2184419358 | SMAD3 | c.395A= (p.His132=) c.665A= (p.His222=) c.980A= (p.His327=) n.683A= c.848A= (p.His283=) c.557-2530A= (n.557-2530A=) n.283-8038A= c.61A= c.833A= (p.His278=) | |
| 15 | g.67184835A>C | CA392957239 | SMAD3 | c.395A>C (p.His132Pro) c.665A>C (p.His222Pro) c.980A>C (p.His327Pro) n.683A>C c.848A>C (p.His283Pro) c.557-2530A>C (n.557-2530A>C) n.283-8038A>C c.61A>C c.833A>C (p.His278Pro) | dbSNP |
| 15 | g.67184835A>G | CA392957241 | SMAD3 | c.395A>G (p.His132Arg) c.665A>G (p.His222Arg) c.980A>G (p.His327Arg) n.683A>G c.848A>G (p.His283Arg) c.557-2530A>G (n.557-2530A>G) n.283-8038A>G c.61A>G c.833A>G (p.His278Arg) | |
| 15 | g.67184835A>T | CA392957243 | SMAD3 | c.395A>T (p.His132Leu) c.665A>T (p.His222Leu) c.980A>T (p.His327Leu) n.683A>T c.848A>T (p.His283Leu) c.557-2530A>T (n.557-2530A>T) n.283-8038A>T c.61A>T c.833A>T (p.His278Leu) | |
| 15 | g.67184836C>A | CA392957245 | SMAD3 | c.396C>A (p.His132Gln) c.666C>A (p.His222Gln) c.981C>A (p.His327Gln) n.684C>A c.849C>A (p.His283Gln) c.557-2529C>A (n.557-2529C>A) n.283-8037C>A c.62C>A c.834C>A (p.His278Gln) | |
| 15 | g.67184836C= | CA2184419362 | SMAD3 | c.396C= (p.His132=) c.666C= (p.His222=) c.981C= (p.His327=) n.684C= c.849C= (p.His283=) c.557-2529C= (n.557-2529C=) n.283-8037C= c.62C= c.834C= (p.His278=) | |
| 15 | g.67184836C>G | CA062871 | SMAD3 | c.396C>G (p.His132Gln) c.666C>G (p.His222Gln) c.981C>G (p.His327Gln) n.684C>G c.849C>G (p.His283Gln) c.557-2529C>G (n.557-2529C>G) n.283-8037C>G c.62C>G c.834C>G (p.His278Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.67184836C>T | CA490916595 | SMAD3 | c.396C>T (p.His132=) c.666C>T (p.His222=) c.981C>T (p.His327=) n.684C>T c.849C>T (p.His283=) c.557-2529C>T (n.557-2529C>T) n.283-8037C>T c.62C>T c.834C>T (p.His278=) | |
| 15 | g.67184837C>A | CA392957250 | SMAD3 | c.397C>A (p.Pro133Thr) c.667C>A (p.Pro223Thr) c.982C>A (p.Pro328Thr) n.685C>A c.850C>A (p.Pro284Thr) c.557-2528C>A (n.557-2528C>A) n.283-8036C>A c.63C>A c.835C>A (p.Pro279Thr) | |
| 15 | g.67184837C>G | CA392957252 | SMAD3 | c.397C>G (p.Pro133Ala) c.667C>G (p.Pro223Ala) c.982C>G (p.Pro328Ala) n.685C>G c.850C>G (p.Pro284Ala) c.557-2528C>G (n.557-2528C>G) n.283-8036C>G c.63C>G c.835C>G (p.Pro279Ala) | |
| 15 | g.67184837C>T | CA392957255 | SMAD3 | c.397C>T (p.Pro133Ser) c.667C>T (p.Pro223Ser) c.982C>T (p.Pro328Ser) n.685C>T c.850C>T (p.Pro284Ser) c.557-2528C>T (n.557-2528C>T) n.283-8036C>T c.63C>T c.835C>T (p.Pro279Ser) | dbSNP |
| 15 | g.67184838C>A | CA392957258 | SMAD3 | c.398C>A (p.Pro133Gln) c.668C>A (p.Pro223Gln) c.983C>A (p.Pro328Gln) n.686C>A c.851C>A (p.Pro284Gln) c.557-2527C>A (n.557-2527C>A) n.283-8035C>A c.64C>A c.836C>A (p.Pro279Gln) | gnomAD v4 |
| 15 | g.67184838C= | CA2184419366 | SMAD3 | c.398C= (p.Pro133=) c.668C= (p.Pro223=) c.983C= (p.Pro328=) n.686C= c.851C= (p.Pro284=) c.557-2527C= (n.557-2527C=) n.283-8035C= c.64C= c.836C= (p.Pro279=) | |
| 15 | g.67184838C>G | CA392957263 | SMAD3 | c.398C>G (p.Pro133Arg) c.668C>G (p.Pro223Arg) c.983C>G (p.Pro328Arg) n.686C>G c.851C>G (p.Pro284Arg) c.557-2527C>G (n.557-2527C>G) n.283-8035C>G c.64C>G c.836C>G (p.Pro279Arg) | |
| 15 | g.67184838C>T | CA392957261 | SMAD3 | c.398C>T (p.Pro133Leu) c.668C>T (p.Pro223Leu) c.983C>T (p.Pro328Leu) n.686C>T c.851C>T (p.Pro284Leu) c.557-2527C>T (n.557-2527C>T) n.283-8035C>T c.64C>T c.836C>T (p.Pro279Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.67184839G>A | CA062873 | SMAD3 | c.399G>A (p.Pro133=) c.669G>A (p.Pro223=) c.984G>A (p.Pro328=) n.687G>A c.852G>A (p.Pro284=) c.557-2526G>A (n.557-2526G>A) n.283-8034G>A c.65G>A c.837G>A (p.Pro279=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.67184839G>C | CA490916597 | SMAD3 | c.399G>C (p.Pro133=) c.669G>C (p.Pro223=) c.984G>C (p.Pro328=) n.687G>C c.852G>C (p.Pro284=) c.557-2526G>C (n.557-2526G>C) n.283-8034G>C c.65G>C c.837G>C (p.Pro279=) | dbSNP gnomAD v4 |
| 15 | g.67184839G= | CA2184419370 | SMAD3 | c.399G= (p.Pro133=) c.669G= (p.Pro223=) c.984G= (p.Pro328=) n.687G= c.852G= (p.Pro284=) c.557-2526G= (n.557-2526G=) n.283-8034G= c.65G= c.837G= (p.Pro279=) | |
| 15 | g.67184839G>T | CA490916598 | SMAD3 | c.399G>T (p.Pro133=) c.669G>T (p.Pro223=) c.984G>T (p.Pro328=) n.687G>T c.852G>T (p.Pro284=) c.557-2526G>T (n.557-2526G>T) n.283-8034G>T c.65G>T c.837G>T (p.Pro279=) | |
| 15 | g.67184840G>A | CA392957272 | SMAD3 | c.400G>A (p.Ala134Thr) c.670G>A (p.Ala224Thr) c.985G>A (p.Ala329Thr) n.688G>A c.853G>A (p.Ala285Thr) c.557-2525G>A (n.557-2525G>A) n.283-8033G>A c.66G>A c.838G>A (p.Ala280Thr) | dbSNP |
| 15 | g.67184840G>C | CA392957267 | SMAD3 | c.400G>C (p.Ala134Pro) c.670G>C (p.Ala224Pro) c.985G>C (p.Ala329Pro) n.688G>C c.853G>C (p.Ala285Pro) c.557-2525G>C (n.557-2525G>C) n.283-8033G>C c.66G>C c.838G>C (p.Ala280Pro) | |
| 15 | g.67184840G>T | CA392957270 | SMAD3 | c.400G>T (p.Ala134Ser) c.670G>T (p.Ala224Ser) c.985G>T (p.Ala329Ser) n.688G>T c.853G>T (p.Ala285Ser) c.557-2525G>T (n.557-2525G>T) n.283-8033G>T c.66G>T c.838G>T (p.Ala280Ser) | COSMIC |
| 15 | g.67184841C>A | CA392957274 | SMAD3 | c.401C>A (p.Ala134Asp) c.671C>A (p.Ala224Asp) c.986C>A (p.Ala329Asp) n.689C>A c.854C>A (p.Ala285Asp) c.557-2524C>A (n.557-2524C>A) n.283-8032C>A c.67C>A c.839C>A (p.Ala280Asp) | |
| 15 | g.67184841C>G | CA392957276 | SMAD3 | c.401C>G (p.Ala134Gly) c.671C>G (p.Ala224Gly) c.986C>G (p.Ala329Gly) n.689C>G c.854C>G (p.Ala285Gly) c.557-2524C>G (n.557-2524C>G) n.283-8032C>G c.67C>G c.839C>G (p.Ala280Gly) | |
| 15 | g.67184841C>T | CA392957277 | SMAD3 | c.401C>T (p.Ala134Val) c.671C>T (p.Ala224Val) c.986C>T (p.Ala329Val) n.689C>T c.854C>T (p.Ala285Val) c.557-2524C>T (n.557-2524C>T) n.283-8032C>T c.67C>T c.839C>T (p.Ala280Val) | dbSNP |
| 15 | g.67184842C>A | CA490916600 | SMAD3 | c.402C>A (p.Ala134=) c.672C>A (p.Ala224=) c.987C>A (p.Ala329=) n.690C>A c.855C>A (p.Ala285=) c.557-2523C>A (n.557-2523C>A) n.283-8031C>A c.68C>A c.840C>A (p.Ala280=) | ClinVar dbSNP |
| 15 | g.67184842C>G | CA490916601 | SMAD3 | c.402C>G (p.Ala134=) c.672C>G (p.Ala224=) c.987C>G (p.Ala329=) n.690C>G c.855C>G (p.Ala285=) c.557-2523C>G (n.557-2523C>G) n.283-8031C>G c.68C>G c.840C>G (p.Ala280=) | ClinVar dbSNP |
| 15 | g.67184842C>T | CA490916602 | SMAD3 | c.402C>T (p.Ala134=) c.672C>T (p.Ala224=) c.987C>T (p.Ala329=) n.690C>T c.855C>T (p.Ala285=) c.557-2523C>T (n.557-2523C>T) n.283-8031C>T c.68C>T c.840C>T (p.Ala280=) | |
| 15 | g.67184843del | CA2573151103 | SMAD3 | c.403del (p.Thr135ProfsTer11) c.673del (p.Thr225ProfsTer11) c.988del (p.Thr330ProfsTer?) c.988del (p.Thr330ProfsTer11) n.691del c.856del (p.Thr286ProfsTer11) c.557-2522del (n.557-2522del) n.283-8030del c.69del c.841del (p.Thr281ProfsTer11) | ClinVar dbSNP |
| 15 | g.67184843A= | CA2184419376 | SMAD3 | c.403A= (p.Thr135=) c.673A= (p.Thr225=) c.988A= (p.Thr330=) n.691A= c.856A= (p.Thr286=) c.557-2522A= (n.557-2522A=) n.283-8030A= c.69A= c.841A= (p.Thr281=) | |
| 15 | g.67184843A>C | CA392957281 | SMAD3 | c.403A>C (p.Thr135Pro) c.673A>C (p.Thr225Pro) c.988A>C (p.Thr330Pro) n.691A>C c.856A>C (p.Thr286Pro) c.557-2522A>C (n.557-2522A>C) n.283-8030A>C c.69A>C c.841A>C (p.Thr281Pro) | |
| 15 | g.67184843A>G | CA392957283 | SMAD3 | c.403A>G (p.Thr135Ala) c.673A>G (p.Thr225Ala) c.988A>G (p.Thr330Ala) n.691A>G c.856A>G (p.Thr286Ala) c.557-2522A>G (n.557-2522A>G) n.283-8030A>G c.69A>G c.841A>G (p.Thr281Ala) | |
| 15 | g.67184843A>T | CA392957285 | SMAD3 | c.403A>T (p.Thr135Ser) c.673A>T (p.Thr225Ser) c.988A>T (p.Thr330Ser) n.691A>T c.856A>T (p.Thr286Ser) c.557-2522A>T (n.557-2522A>T) n.283-8030A>T c.69A>T c.841A>T (p.Thr281Ser) | |
| 15 | g.67184844C>A | CA392957287 | SMAD3 | c.404C>A (p.Thr135Asn) c.674C>A (p.Thr225Asn) c.989C>A (p.Thr330Asn) n.692C>A c.857C>A (p.Thr286Asn) c.557-2521C>A (n.557-2521C>A) n.283-8029C>A c.70C>A c.842C>A (p.Thr281Asn) | |
| 15 | g.67184844C>G | CA392957289 | SMAD3 | c.404C>G (p.Thr135Ser) c.674C>G (p.Thr225Ser) c.989C>G (p.Thr330Ser) n.692C>G c.857C>G (p.Thr286Ser) c.557-2521C>G (n.557-2521C>G) n.283-8029C>G c.70C>G c.842C>G (p.Thr281Ser) | |
| 15 | g.67184844C>T | CA392957290 | SMAD3 | c.404C>T (p.Thr135Ile) c.674C>T (p.Thr225Ile) c.989C>T (p.Thr330Ile) n.692C>T c.857C>T (p.Thr286Ile) c.557-2521C>T (n.557-2521C>T) n.283-8029C>T c.70C>T c.842C>T (p.Thr281Ile) | gnomAD v4 |
| 15 | g.67184845dup | CA322583 | SMAD3 | c.405dup (p.Val136ArgfsTer?) c.675dup (p.Val226ArgfsTer?) c.990dup (p.Val331ArgfsTer?) n.693dup c.858dup (p.Val287ArgfsTer?) c.557-2520dup (n.557-2520dup) n.283-8028dup c.71dup c.843dup (p.Val282ArgfsTer?) | ClinVar dbSNP |
| 15 | g.67184845C>A | CA490916607 | SMAD3 | c.405C>A (p.Thr135=) c.675C>A (p.Thr225=) c.990C>A (p.Thr330=) n.693C>A c.858C>A (p.Thr286=) c.557-2520C>A (n.557-2520C>A) n.283-8028C>A c.71C>A c.843C>A (p.Thr281=) | |
| 15 | g.67184845C= | CA2184419384 | SMAD3 | c.405C= (p.Thr135=) c.675C= (p.Thr225=) c.990C= (p.Thr330=) n.693C= c.858C= (p.Thr286=) c.557-2520C= (n.557-2520C=) n.283-8028C= c.71C= c.843C= (p.Thr281=) | |
| 15 | g.67184845C>G | CA490916608 | SMAD3 | c.405C>G (p.Thr135=) c.675C>G (p.Thr225=) c.990C>G (p.Thr330=) n.693C>G c.858C>G (p.Thr286=) c.557-2520C>G (n.557-2520C>G) n.283-8028C>G c.71C>G c.843C>G (p.Thr281=) | |
| 15 | g.67184845C>T | CA062878 | SMAD3 | c.405C>T (p.Thr135=) c.675C>T (p.Thr225=) c.990C>T (p.Thr330=) n.693C>T c.858C>T (p.Thr286=) c.557-2520C>T (n.557-2520C>T) n.283-8028C>T c.71C>T c.843C>T (p.Thr281=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.67184846G>A | CA392957298 | SMAD3 | c.406G>A (p.Val136Ile) c.676G>A (p.Val226Ile) c.991G>A (p.Val331Ile) n.694G>A c.859G>A (p.Val287Ile) c.557-2519G>A (n.557-2519G>A) n.283-8027G>A c.72G>A c.844G>A (p.Val282Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.67184846G>C | CA392957294 | SMAD3 | c.406G>C (p.Val136Leu) c.676G>C (p.Val226Leu) c.991G>C (p.Val331Leu) n.694G>C c.859G>C (p.Val287Leu) c.557-2519G>C (n.557-2519G>C) n.283-8027G>C c.72G>C c.844G>C (p.Val282Leu) | dbSNP |
| 15 | g.67184846G= | CA2184419391 | SMAD3 | c.406G= (p.Val136=) c.676G= (p.Val226=) c.991G= (p.Val331=) n.694G= c.859G= (p.Val287=) c.557-2519G= (n.557-2519G=) n.283-8027G= c.72G= c.844G= (p.Val282=) | |
| 15 | g.67184846G>T | CA392957297 | SMAD3 | c.406G>T (p.Val136Phe) c.676G>T (p.Val226Phe) c.991G>T (p.Val331Phe) n.694G>T c.859G>T (p.Val287Phe) c.557-2519G>T (n.557-2519G>T) n.283-8027G>T c.72G>T c.844G>T (p.Val282Phe) | ClinVar dbSNP |
| 15 | g.67184847T>A | CA392957301 | SMAD3 | c.407T>A (p.Val136Asp) c.677T>A (p.Val226Asp) c.992T>A (p.Val331Asp) n.695T>A c.860T>A (p.Val287Asp) c.557-2518T>A (n.557-2518T>A) n.283-8026T>A c.73T>A c.845T>A (p.Val282Asp) | ClinVar dbSNP |
| 15 | g.67184847T>C | CA392957302 | SMAD3 | c.407T>C (p.Val136Ala) c.677T>C (p.Val226Ala) c.992T>C (p.Val331Ala) n.695T>C c.860T>C (p.Val287Ala) c.557-2518T>C (n.557-2518T>C) n.283-8026T>C c.73T>C c.845T>C (p.Val282Ala) | |
| 15 | g.67184847T>G | CA392957305 | SMAD3 | c.407T>G (p.Val136Gly) c.677T>G (p.Val226Gly) c.992T>G (p.Val331Gly) n.695T>G c.860T>G (p.Val287Gly) c.557-2518T>G (n.557-2518T>G) n.283-8026T>G c.73T>G c.845T>G (p.Val282Gly) | |
| 15 | g.67184847T= | CA2184419399 | SMAD3 | c.407T= (p.Val136=) c.677T= (p.Val226=) c.992T= (p.Val331=) n.695T= c.860T= (p.Val287=) c.557-2518T= (n.557-2518T=) n.283-8026T= c.73T= c.845T= (p.Val282=) | |
| 15 | g.67184848C>A | CA490916612 | SMAD3 | c.408C>A (p.Val136=) c.678C>A (p.Val226=) c.993C>A (p.Val331=) n.696C>A c.861C>A (p.Val287=) c.557-2517C>A (n.557-2517C>A) n.283-8025C>A c.74C>A c.846C>A (p.Val282=) | |
| 15 | g.67184848C>G | CA490916613 | SMAD3 | c.408C>G (p.Val136=) c.678C>G (p.Val226=) c.993C>G (p.Val331=) n.696C>G c.861C>G (p.Val287=) c.557-2517C>G (n.557-2517C>G) n.283-8025C>G c.74C>G c.846C>G (p.Val282=) | |
| 15 | g.67184848C>T | CA490916614 | SMAD3 | c.408C>T (p.Val136=) c.678C>T (p.Val226=) c.993C>T (p.Val331=) n.696C>T c.861C>T (p.Val287=) c.557-2517C>T (n.557-2517C>T) n.283-8025C>T c.74C>T c.846C>T (p.Val282=) | ClinVar gnomAD v4 |
| 15 | g.67184849T>A | CA392957308 | SMAD3 | c.409T>A (p.Cys137Ser) c.679T>A (p.Cys227Ser) c.994T>A (p.Cys332Ser) n.697T>A c.862T>A (p.Cys288Ser) c.557-2516T>A (n.557-2516T>A) n.283-8024T>A c.75T>A c.847T>A (p.Cys283Ser) | |
| 15 | g.67184849T>C | CA392957310 | SMAD3 | c.409T>C (p.Cys137Arg) c.679T>C (p.Cys227Arg) c.994T>C (p.Cys332Arg) n.697T>C c.862T>C (p.Cys288Arg) c.557-2516T>C (n.557-2516T>C) n.283-8024T>C c.75T>C c.847T>C (p.Cys283Arg) | ClinVar |
| 15 | g.67184849T>G | CA392957313 | SMAD3 | c.409T>G (p.Cys137Gly) c.679T>G (p.Cys227Gly) c.994T>G (p.Cys332Gly) n.697T>G c.862T>G (p.Cys288Gly) c.557-2516T>G (n.557-2516T>G) n.283-8024T>G c.75T>G c.847T>G (p.Cys283Gly) |