Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.229431642_229431720delinsTCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCAC | CA1226125416 | ACTA1 | c.990+1_991-78delinsGTGGGTGGTGGCCTGCGCGGGCTGTCGGCGGGGTGGGCTCCAGGGTGAGGTCTCCCCACCTCACGCGCTGTCTTGCAGA (n.990+1_991-78delinsGTGGGTGGTGGCCTGCGCGGGCTGTCGGCGGGGTGGGCTCCAGGGTGAGGTCTCCCCACCTCACGCGCTGTCTTGCAGA) c.855+1_856delinsGTGGGTGGTGGCCTGCGCGGGCTGTCGGCGGGGTGGGCTCCAGGGTGAGGTCTCCCCACCTCACGCGCTGTCTTGCAGA c.621+1_622delinsGTGGGTGGTGGCCTGCGCGGGCTGTCGGCGGGGTGGGCTCCAGGGTGAGGTCTCCCCACCTCACGCGCTGTCTTGCAGA c.990+1_991delinsGTGGGTGGTGGCCTGCGCGGGCTGTCGGCGGGGTGGGCTCCAGGGTGAGGTCTCCCCACCTCACGCGCTGTCTTGCAGA | |
1 | g.229431645_229431722del | CA529915258 | ACTA1 | c.990+1_991-79del c.855+1_856-1del c.621+1_622-1del c.990+1_991-1del | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229431705G= | CA1226125458 | ACTA1 | c.990+16C= (n.990+16C=) c.855+16C= (n.855+16C=) c.621+16C= (n.621+16C=) | |
1 | g.229431705G>T | CA529915285 | ACTA1 | c.990+16C>A (n.990+16C>A) c.855+16C>A (n.855+16C>A) c.621+16C>A (n.621+16C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229431706C>T | CA2574151191 | ACTA1 | c.990+15G>A (n.990+15G>A) c.855+15G>A (n.855+15G>A) c.621+15G>A (n.621+15G>A) | |
1 | g.229431709G>A | CA1442744 | ACTA1 | c.990+12C>T (n.990+12C>T) c.855+12C>T (n.855+12C>T) c.621+12C>T (n.621+12C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229431709G= | CA1226125459 | ACTA1 | c.990+12C= (n.990+12C=) c.855+12C= (n.855+12C=) c.621+12C= (n.621+12C=) | |
1 | g.229431709G>T | CA1226125460 | ACTA1 | c.990+12C>A (n.990+12C>A) c.855+12C>A (n.855+12C>A) c.621+12C>A (n.621+12C>A) | dbSNP gnomAD v4 |
1 | g.229431710C= | CA1226125461 | ACTA1 | c.990+11G= (n.990+11G=) c.855+11G= (n.855+11G=) c.621+11G= (n.621+11G=) | |
1 | g.229431710C>T | CA38815019 | ACTA1 | c.990+11G>A (n.990+11G>A) c.855+11G>A (n.855+11G>A) c.621+11G>A (n.621+11G>A) | dbSNP gnomAD v4 |
1 | g.229431715_229431717dup | CA2580611238 | ACTA1 | c.990+9_990+11dup (n.990+9_990+11dup) c.855+9_855+11dup (n.855+9_855+11dup) c.621+9_621+11dup (n.621+9_621+11dup) | ClinVar dbSNP |
1 | g.229431711C>G | CA2697554960 | ACTA1 | c.990+10G>C (n.990+10G>C) c.855+10G>C (n.855+10G>C) c.621+10G>C (n.621+10G>C) | ClinVar |
1 | g.229431713C= | CA1226125462 | ACTA1 | c.990+8G= (n.990+8G=) c.855+8G= (n.855+8G=) c.621+8G= (n.621+8G=) | |
1 | g.229431713C>T | CA529915286 | ACTA1 | c.990+8G>A (n.990+8G>A) c.855+8G>A (n.855+8G>A) c.621+8G>A (n.621+8G>A) | dbSNP gnomAD v2 |
1 | g.229431714C>A | CA2841097828 | ACTA1 | c.990+7G>T (n.990+7G>T) c.855+7G>T (n.855+7G>T) c.621+7G>T (n.621+7G>T) | |
1 | g.229431715A>G | CA2650926595 | ACTA1 | c.990+6T>C (n.990+6T>C) c.855+6T>C (n.855+6T>C) c.621+6T>C (n.621+6T>C) | gnomAD v4 |
1 | g.229431716C>T | CA2650926596 | ACTA1 | c.990+5G>A (n.990+5G>A) c.855+5G>A (n.855+5G>A) c.621+5G>A (n.621+5G>A) | gnomAD v4 |
1 | g.229431717C= | CA1226125463 | ACTA1 | c.990+4G= (n.990+4G=) c.855+4G= (n.855+4G=) c.621+4G= (n.621+4G=) | |
1 | g.229431717C>T | CA1226125464 | ACTA1 | c.990+4G>A (n.990+4G>A) c.855+4G>A (n.855+4G>A) c.621+4G>A (n.621+4G>A) | dbSNP gnomAD v4 |
1 | g.229431718C>A | CA1442745 | ACTA1 | c.990+3G>T (n.990+3G>T) c.855+3G>T (n.855+3G>T) c.621+3G>T (n.621+3G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229431718C= | CA1145907942 | ACTA1 | c.990+3G= (n.990+3G=) c.855+3G= (n.855+3G=) c.621+3G= (n.621+3G=) | |
1 | g.229431718C>T | CA38815029 | ACTA1 | c.990+3G>A (n.990+3G>A) c.855+3G>A (n.855+3G>A) c.621+3G>A (n.621+3G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229431719A>C | CA345145177 | ACTA1 | c.990+2T>G (n.990+2T>G) c.855+2T>G (n.855+2T>G) c.621+2T>G (n.621+2T>G) | |
1 | g.229431719A>G | CA345145168 | ACTA1 | c.990+2T>C (n.990+2T>C) c.855+2T>C (n.855+2T>C) c.621+2T>C (n.621+2T>C) | |
1 | g.229431719A>T | CA345145173 | ACTA1 | c.990+2T>A (n.990+2T>A) c.855+2T>A (n.855+2T>A) c.621+2T>A (n.621+2T>A) | gnomAD v4 |
1 | g.229431720C>A | CA1442746 | ACTA1 | c.990+1G>T (n.990+1G>T) c.855+1G>T (n.855+1G>T) c.621+1G>T (n.621+1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229431720C= | CA1143878388 | ACTA1 | c.990+1G= (n.990+1G=) c.855+1G= (n.855+1G=) c.621+1G= (n.621+1G=) | |
1 | g.229431720C>G | CA345145186 | ACTA1 | c.990+1G>C (n.990+1G>C) c.855+1G>C (n.855+1G>C) c.621+1G>C (n.621+1G>C) | |
1 | g.229431720C>T | CA38815037 | ACTA1 | c.990+1G>A (n.990+1G>A) c.855+1G>A (n.855+1G>A) c.621+1G>A (n.621+1G>A) | dbSNP |
1 | g.229431721C>A | CA345145192 | ACTA1 | c.990G>T (p.Lys330Asn) c.855G>T (p.Lys285Asn) c.621G>T (p.Lys207Asn) | |
1 | g.229431721C>G | CA345145195 | ACTA1 | c.990G>C (p.Lys330Asn) c.855G>C (p.Lys285Asn) c.621G>C (p.Lys207Asn) | |
1 | g.229431721C>T | CA423754890 | ACTA1 | c.990G>A (p.Lys330=) c.855G>A (p.Lys285=) c.621G>A (p.Lys207=) | COSMIC |
1 | g.229431722T>A | CA345145200 | ACTA1 | c.989A>T (p.Lys330Met) c.854A>T (p.Lys285Met) c.620A>T (p.Lys207Met) | |
1 | g.229431722T>C | CA345145202 | ACTA1 | c.989A>G (p.Lys330Arg) c.854A>G (p.Lys285Arg) c.620A>G (p.Lys207Arg) | |
1 | g.229431722T>G | CA345145205 | ACTA1 | c.989A>C (p.Lys330Thr) c.854A>C (p.Lys285Thr) c.620A>C (p.Lys207Thr) | |
1 | g.229431723_229431726dup | CA2580062275 | ACTA1 | c.986_989dup (p.Lys330AsnfsTer?) c.851_854dup (p.Lys285AsnfsTer?) c.617_620dup (p.Lys207AsnfsTer?) | ClinVar |
1 | g.229431723T>A | CA345145208 | ACTA1 | c.988A>T (p.Lys330Ter) c.853A>T (p.Lys285Ter) c.619A>T (p.Lys207Ter) | |
1 | g.229431723T>C | CA345145209 | ACTA1 | c.988A>G (p.Lys330Glu) c.853A>G (p.Lys285Glu) c.619A>G (p.Lys207Glu) | COSMIC |
1 | g.229431723T>G | CA345145212 | ACTA1 | c.988A>C (p.Lys330Gln) c.853A>C (p.Lys285Gln) c.619A>C (p.Lys207Gln) | gnomAD v4 |
1 | g.229431724G>A | CA423754894 | ACTA1 | c.987C>T (p.Ile329=) c.852C>T (p.Ile284=) c.618C>T (p.Ile206=) | gnomAD v4 |
1 | g.229431724G>C | CA345145219 | ACTA1 | c.987C>G (p.Ile329Met) c.852C>G (p.Ile284Met) c.618C>G (p.Ile206Met) | |
1 | g.229431724G>T | CA423754896 | ACTA1 | c.987C>A (p.Ile329=) c.852C>A (p.Ile284=) c.618C>A (p.Ile206=) | |
1 | g.229431725A>C | CA345145227 | ACTA1 | c.986T>G (p.Ile329Ser) c.851T>G (p.Ile284Ser) c.617T>G (p.Ile206Ser) | |
1 | g.229431725A>G | CA345145230 | ACTA1 | c.986T>C (p.Ile329Thr) c.851T>C (p.Ile284Thr) c.617T>C (p.Ile206Thr) | ClinVar |
1 | g.229431725A>T | CA345145224 | ACTA1 | c.986T>A (p.Ile329Asn) c.851T>A (p.Ile284Asn) c.617T>A (p.Ile206Asn) | gnomAD v4 |
1 | g.229431725_229431728delinsATCT | CA1226125465 | ACTA1 | c.983_986delinsAGAT (p.Lys328=) c.848_851delinsAGAT (p.Lys283=) c.614_617delinsAGAT (p.Lys205=) | |
1 | g.229431726T>A | CA345145242 | ACTA1 | c.985A>T (p.Ile329Phe) c.850A>T (p.Ile284Phe) c.616A>T (p.Ile206Phe) | |
1 | g.229431726T>C | CA345145234 | ACTA1 | c.985A>G (p.Ile329Val) c.850A>G (p.Ile284Val) c.616A>G (p.Ile206Val) | |
1 | g.229431726T>G | CA345145243 | ACTA1 | c.985A>C (p.Ile329Leu) c.850A>C (p.Ile284Leu) c.616A>C (p.Ile206Leu) | |
1 | g.229431728_229431730del | CA1226125466 | ACTA1 | c.983_985del (p.Lys328del) c.848_850del (p.Lys283del) c.614_616del (p.Lys205del) | ClinVar dbSNP |
1 | g.229431727C>A | CA345145245 | ACTA1 | c.984G>T (p.Lys328Asn) c.849G>T (p.Lys283Asn) c.615G>T (p.Lys205Asn) | |
1 | g.229431727C= | CA1144233513 | ACTA1 | c.984G= (p.Lys328=) c.849G= (p.Lys283=) c.615G= (p.Lys205=) | |
1 | g.229431727C>G | CA263209 | ACTA1 | c.984G>C (p.Lys328Asn) c.849G>C (p.Lys283Asn) c.615G>C (p.Lys205Asn) | ClinVar dbSNP |
1 | g.229431727C>T | CA423754898 | ACTA1 | c.984G>A (p.Lys328=) c.849G>A (p.Lys283=) c.615G>A (p.Lys205=) | ClinVar dbSNP |
1 | g.229431728T>A | CA345145250 | ACTA1 | c.983A>T (p.Lys328Met) c.848A>T (p.Lys283Met) c.614A>T (p.Lys205Met) | |
1 | g.229431728T>C | CA345145252 | ACTA1 | c.983A>G (p.Lys328Arg) c.848A>G (p.Lys283Arg) c.614A>G (p.Lys205Arg) | |
1 | g.229431728T>G | CA345145259 | ACTA1 | c.983A>C (p.Lys328Thr) c.848A>C (p.Lys283Thr) c.614A>C (p.Lys205Thr) | |
1 | g.229431729T>A | CA345145265 | ACTA1 | c.982A>T (p.Lys328Ter) c.847A>T (p.Lys283Ter) c.613A>T (p.Lys205Ter) | |
1 | g.229431729T>C | CA345145268 | ACTA1 | c.982A>G (p.Lys328Glu) c.847A>G (p.Lys283Glu) c.613A>G (p.Lys205Glu) | |
1 | g.229431729T>G | CA345145271 | ACTA1 | c.982A>C (p.Lys328Gln) c.847A>C (p.Lys283Gln) c.613A>C (p.Lys205Gln) | |
1 | g.229431730C>A | CA345145277 | ACTA1 | c.981G>T (p.Met327Ile) c.846G>T (p.Met282Ile) c.612G>T (p.Met204Ile) | |
1 | g.229431730C= | CA1226125467 | ACTA1 | c.981G= (p.Met327=) c.846G= (p.Met282=) c.612G= (p.Met204=) | |
1 | g.229431730C>G | CA345145281 | ACTA1 | c.981G>C (p.Met327Ile) c.846G>C (p.Met282Ile) c.612G>C (p.Met204Ile) | ClinVar dbSNP |
1 | g.229431730C>T | CA345145289 | ACTA1 | c.981G>A (p.Met327Ile) c.846G>A (p.Met282Ile) c.612G>A (p.Met204Ile) | |
1 | g.229431731A>C | CA345145296 | ACTA1 | c.980T>G (p.Met327Arg) c.845T>G (p.Met282Arg) c.611T>G (p.Met204Arg) | |
1 | g.229431731A>G | CA345145291 | ACTA1 | c.980T>C (p.Met327Thr) c.845T>C (p.Met282Thr) c.611T>C (p.Met204Thr) | |
1 | g.229431731A>T | CA345145294 | ACTA1 | c.980T>A (p.Met327Lys) c.845T>A (p.Met282Lys) c.611T>A (p.Met204Lys) | ClinVar dbSNP |
1 | g.229431732T>A | CA345145299 | ACTA1 | c.979A>T (p.Met327Leu) c.844A>T (p.Met282Leu) c.610A>T (p.Met204Leu) | |
1 | g.229431732T>C | CA345145303 | ACTA1 | c.979A>G (p.Met327Val) c.844A>G (p.Met282Val) c.610A>G (p.Met204Val) | gnomAD v4 |
1 | g.229431732T>G | CA345145307 | ACTA1 | c.979A>C (p.Met327Leu) c.844A>C (p.Met282Leu) c.610A>C (p.Met204Leu) | |
1 | g.229431734_229431736dup | CA2843744548 | ACTA1 | c.977_979dup (p.Thr326_Met327insThr) c.842_844dup (p.Thr281_Met282insThr) c.608_610dup (p.Thr203_Met204insThr) | |
1 | g.229431732_229431739delinsTGGTGCTG | CA1226125468 | ACTA1 | c.972_979delinsCAGCACCA (p.Pro324=) c.837_844delinsCAGCACCA (p.Pro279=) c.603_610delinsCAGCACCA (p.Pro201=) | |
1 | g.229431733G>A | CA423754908 | ACTA1 | c.978C>T (p.Thr326=) c.843C>T (p.Thr281=) c.609C>T (p.Thr203=) | gnomAD v4 |
1 | g.229431733G>C | CA423754909 | ACTA1 | c.978C>G (p.Thr326=) c.843C>G (p.Thr281=) c.609C>G (p.Thr203=) | gnomAD v4 |
1 | g.229431733G= | CA1226125469 | ACTA1 | c.978C= (p.Thr326=) c.843C= (p.Thr281=) c.609C= (p.Thr203=) | |
1 | g.229431733G>T | CA423754907 | ACTA1 | c.978C>A (p.Thr326=) c.843C>A (p.Thr281=) c.609C>A (p.Thr203=) | dbSNP |
1 | g.229431738_229431744del | CA916422660 | ACTA1 | c.972_978del (p.Ser325Ter) c.837_843del (p.Ser280Ter) c.603_609del (p.Ser202Ter) | dbSNP gnomAD v4 |
1 | g.229431734G>A | CA345145314 | ACTA1 | c.977C>T (p.Thr326Ile) c.842C>T (p.Thr281Ile) c.608C>T (p.Thr203Ile) | dbSNP gnomAD v4 |
1 | g.229431734G>C | CA345145317 | ACTA1 | c.977C>G (p.Thr326Ser) c.842C>G (p.Thr281Ser) c.608C>G (p.Thr203Ser) | |
1 | g.229431734G= | CA1226125470 | ACTA1 | c.977C= (p.Thr326=) c.842C= (p.Thr281=) c.608C= (p.Thr203=) | |
1 | g.229431734G>T | CA345145326 | ACTA1 | c.977C>A (p.Thr326Asn) c.842C>A (p.Thr281Asn) c.608C>A (p.Thr203Asn) | |
1 | g.229431735T>A | CA345145331 | ACTA1 | c.976A>T (p.Thr326Ser) c.841A>T (p.Thr281Ser) c.607A>T (p.Thr203Ser) | |
1 | g.229431735T>C | CA345145334 | ACTA1 | c.976A>G (p.Thr326Ala) c.841A>G (p.Thr281Ala) c.607A>G (p.Thr203Ala) | gnomAD v4 |
1 | g.229431735T>G | CA345145338 | ACTA1 | c.976A>C (p.Thr326Pro) c.841A>C (p.Thr281Pro) c.607A>C (p.Thr203Pro) | |
1 | g.229431736G>A | CA423754911 | ACTA1 | c.975C>T (p.Ser325=) c.840C>T (p.Ser280=) c.606C>T (p.Ser202=) | |
1 | g.229431736G>C | CA345145344 | ACTA1 | c.975C>G (p.Ser325Arg) c.840C>G (p.Ser280Arg) c.606C>G (p.Ser202Arg) | |
1 | g.229431736G>T | CA345145348 | ACTA1 | c.975C>A (p.Ser325Arg) c.840C>A (p.Ser280Arg) c.606C>A (p.Ser202Arg) | ClinVar |
1 | g.229431737C>A | CA345145355 | ACTA1 | c.974G>T (p.Ser325Ile) c.839G>T (p.Ser280Ile) c.605G>T (p.Ser202Ile) | |
1 | g.229431737C>G | CA345145362 | ACTA1 | c.974G>C (p.Ser325Thr) c.839G>C (p.Ser280Thr) c.605G>C (p.Ser202Thr) | |
1 | g.229431737C>T | CA345145351 | ACTA1 | c.974G>A (p.Ser325Asn) c.839G>A (p.Ser280Asn) c.605G>A (p.Ser202Asn) | gnomAD v4 |
1 | g.229431738T>A | CA345145364 | ACTA1 | c.973A>T (p.Ser325Cys) c.838A>T (p.Ser280Cys) c.604A>T (p.Ser202Cys) | gnomAD v4 |
1 | g.229431738T>C | CA345145368 | ACTA1 | c.973A>G (p.Ser325Gly) c.838A>G (p.Ser280Gly) c.604A>G (p.Ser202Gly) | gnomAD v4 |
1 | g.229431738T>G | CA345145369 | ACTA1 | c.973A>C (p.Ser325Arg) c.838A>C (p.Ser280Arg) c.604A>C (p.Ser202Arg) | |
1 | g.229431739G>A | CA423754913 | ACTA1 | c.972C>T (p.Pro324=) c.837C>T (p.Pro279=) c.603C>T (p.Pro201=) | |
1 | g.229431739G>C | CA423754914 | ACTA1 | c.972C>G (p.Pro324=) c.837C>G (p.Pro279=) c.603C>G (p.Pro201=) | |
1 | g.229431739G>T | CA423754915 | ACTA1 | c.972C>A (p.Pro324=) c.837C>A (p.Pro279=) c.603C>A (p.Pro201=) | |
1 | g.229431740G>A | CA345145370 | ACTA1 | c.971C>T (p.Pro324Leu) c.836C>T (p.Pro279Leu) c.602C>T (p.Pro201Leu) | |
1 | g.229431740G>C | CA345145372 | ACTA1 | c.971C>G (p.Pro324Arg) c.836C>G (p.Pro279Arg) c.602C>G (p.Pro201Arg) | |
1 | g.229431740G= | CA1226125471 | ACTA1 | c.971C= (p.Pro324=) c.836C= (p.Pro279=) c.602C= (p.Pro201=) | |
1 | g.229431740G>T | CA345145375 | ACTA1 | c.971C>A (p.Pro324His) c.836C>A (p.Pro279His) c.602C>A (p.Pro201His) | dbSNP |
1 | g.229431741G>A | CA345145385 | ACTA1 | c.970C>T (p.Pro324Ser) c.835C>T (p.Pro279Ser) c.601C>T (p.Pro201Ser) | |
1 | g.229431741G>C | CA345145388 | ACTA1 | c.970C>G (p.Pro324Ala) c.835C>G (p.Pro279Ala) c.601C>G (p.Pro201Ala) | |
1 | g.229431741G>T | CA345145391 | ACTA1 | c.970C>A (p.Pro324Thr) c.835C>A (p.Pro279Thr) c.601C>A (p.Pro201Thr) | |
1 | g.229431742T>A | CA423754918 | ACTA1 | c.969A>T (p.Ala323=) c.834A>T (p.Ala278=) c.600A>T (p.Ala200=) | dbSNP |
1 | g.229431742T>C | CA423754920 | ACTA1 | c.969A>G (p.Ala323=) c.834A>G (p.Ala278=) c.600A>G (p.Ala200=) | |
1 | g.229431742T>G | CA423754919 | ACTA1 | c.969A>C (p.Ala323=) c.834A>C (p.Ala278=) c.600A>C (p.Ala200=) | dbSNP |
1 | g.229431742T= | CA1226125472 | ACTA1 | c.969A= (p.Ala323=) c.834A= (p.Ala278=) c.600A= (p.Ala200=) | |
1 | g.229431742_229431748delinsTGCCAGC | CA1226125473 | ACTA1 | c.963_969delinsGCTGGCA (p.Ala321=) c.828_834delinsGCTGGCA (p.Ala276=) c.594_600delinsGCTGGCA (p.Ala198=) | |
1 | g.229431743G>A | CA345145394 | ACTA1 | c.968C>T (p.Ala323Val) c.833C>T (p.Ala278Val) c.599C>T (p.Ala200Val) | |
1 | g.229431743G>C | CA345145395 | ACTA1 | c.968C>G (p.Ala323Gly) c.833C>G (p.Ala278Gly) c.599C>G (p.Ala200Gly) | |
1 | g.229431743G>T | CA345145399 | ACTA1 | c.968C>A (p.Ala323Glu) c.833C>A (p.Ala278Glu) c.599C>A (p.Ala200Glu) | |
1 | g.229431745_229431750del | CA658656988 | ACTA1 | c.963_968del (p.Leu322_Ala323del) c.828_833del (p.Leu277_Ala278del) c.594_599del (p.Leu199_Ala200del) | ClinVar dbSNP |
1 | g.229431744C>A | CA345145413 | ACTA1 | c.967G>T (p.Ala323Ser) c.832G>T (p.Ala278Ser) c.598G>T (p.Ala200Ser) | |
1 | g.229431744C>G | CA345145402 | ACTA1 | c.967G>C (p.Ala323Pro) c.832G>C (p.Ala278Pro) c.598G>C (p.Ala200Pro) | |
1 | g.229431744C>T | CA345145411 | ACTA1 | c.967G>A (p.Ala323Thr) c.832G>A (p.Ala278Thr) c.598G>A (p.Ala200Thr) | |
1 | g.229431745del | CA2574151192 | ACTA1 | c.967del (p.Ala323HisfsTer5) c.832del (p.Ala278HisfsTer5) c.598del (p.Ala200HisfsTer5) | |
1 | g.229431745C>A | CA423754921 | ACTA1 | c.966G>T (p.Leu322=) c.831G>T (p.Leu277=) c.597G>T (p.Leu199=) | |
1 | g.229431745C= | CA1226125474 | ACTA1 | c.966G= (p.Leu322=) c.831G= (p.Leu277=) c.597G= (p.Leu199=) | |
1 | g.229431745C>G | CA1442747 | ACTA1 | c.966G>C (p.Leu322=) c.831G>C (p.Leu277=) c.597G>C (p.Leu199=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229431745C>T | CA10610293 | ACTA1 | c.966G>A (p.Leu322=) c.831G>A (p.Leu277=) c.597G>A (p.Leu199=) | ClinVar dbSNP |
1 | g.229431746A= | CA1226125475 | ACTA1 | c.965T= (p.Leu322=) c.830T= (p.Leu277=) c.596T= (p.Leu199=) | |
1 | g.229431746A>C | CA345145415 | ACTA1 | c.965T>G (p.Leu322Arg) c.830T>G (p.Leu277Arg) c.596T>G (p.Leu199Arg) | |
1 | g.229431746A>G | CA345145416 | ACTA1 | c.965T>C (p.Leu322Pro) c.830T>C (p.Leu277Pro) c.596T>C (p.Leu199Pro) | |
1 | g.229431746A>T | CA345145418 | ACTA1 | c.965T>A (p.Leu322Gln) c.830T>A (p.Leu277Gln) c.596T>A (p.Leu199Gln) | ClinVar dbSNP |
1 | g.229431747G>A | CA423754922 | ACTA1 | c.964C>T (p.Leu322=) c.829C>T (p.Leu277=) c.595C>T (p.Leu199=) | gnomAD v4 |
1 | g.229431747G>C | CA345145422 | ACTA1 | c.964C>G (p.Leu322Val) c.829C>G (p.Leu277Val) c.595C>G (p.Leu199Val) | ClinVar dbSNP |
1 | g.229431747G= | CA1226125476 | ACTA1 | c.964C= (p.Leu322=) c.829C= (p.Leu277=) c.595C= (p.Leu199=) | |
1 | g.229431747G>T | CA345145423 | ACTA1 | c.964C>A (p.Leu322Met) c.829C>A (p.Leu277Met) c.595C>A (p.Leu199Met) | |
1 | g.229431748C>A | CA1442750 | ACTA1 | c.963G>T (p.Ala321=) c.828G>T (p.Ala276=) c.594G>T (p.Ala198=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229431748C= | CA1144004716 | ACTA1 | c.963G= (p.Ala321=) c.828G= (p.Ala276=) c.594G= (p.Ala198=) | |
1 | g.229431748C>G | CA1442748 | ACTA1 | c.963G>C (p.Ala321=) c.828G>C (p.Ala276=) c.594G>C (p.Ala198=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229431748C>T | CA1442749 | ACTA1 | c.963G>A (p.Ala321=) c.828G>A (p.Ala276=) c.594G>A (p.Ala198=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.229431749G>A | CA345145438 | ACTA1 | c.962C>T (p.Ala321Val) c.827C>T (p.Ala276Val) c.593C>T (p.Ala198Val) | COSMIC |
1 | g.229431749G>C | CA345145442 | ACTA1 | c.962C>G (p.Ala321Gly) c.827C>G (p.Ala276Gly) c.593C>G (p.Ala198Gly) | |
1 | g.229431749G>T | CA345145445 | ACTA1 | c.962C>A (p.Ala321Glu) c.827C>A (p.Ala276Glu) c.593C>A (p.Ala198Glu) | |
1 | g.229431750C>A | CA345145453 | ACTA1 | c.961G>T (p.Ala321Ser) c.826G>T (p.Ala276Ser) c.592G>T (p.Ala198Ser) | |
1 | g.229431750C>G | CA345145455 | ACTA1 | c.961G>C (p.Ala321Pro) c.826G>C (p.Ala276Pro) c.592G>C (p.Ala198Pro) | |
1 | g.229431750C>T | CA345145449 | ACTA1 | c.961G>A (p.Ala321Thr) c.826G>A (p.Ala276Thr) c.592G>A (p.Ala198Thr) | gnomAD v4 COSMIC |
1 | g.229431751G>A | CA423754923 | ACTA1 | c.960C>T (p.Thr320=) c.825C>T (p.Thr275=) c.591C>T (p.Thr197=) | ClinVar dbSNP gnomAD v4 |
1 | g.229431751G>C | CA423754924 | ACTA1 | c.960C>G (p.Thr320=) c.825C>G (p.Thr275=) c.591C>G (p.Thr197=) | dbSNP |
1 | g.229431751G= | CA1226125477 | ACTA1 | c.960C= (p.Thr320=) c.825C= (p.Thr275=) c.591C= (p.Thr197=) | |
1 | g.229431751G>T | CA423754925 | ACTA1 | c.960C>A (p.Thr320=) c.825C>A (p.Thr275=) c.591C>A (p.Thr197=) | dbSNP |
1 | g.229431752G>A | CA345145463 | ACTA1 | c.959C>T (p.Thr320Ile) c.824C>T (p.Thr275Ile) c.590C>T (p.Thr197Ile) | |
1 | g.229431752G>C | CA345145458 | ACTA1 | c.959C>G (p.Thr320Ser) c.824C>G (p.Thr275Ser) c.590C>G (p.Thr197Ser) | |
1 | g.229431752G= | CA1226125478 | ACTA1 | c.959C= (p.Thr320=) c.824C= (p.Thr275=) c.590C= (p.Thr197=) | |
1 | g.229431752G>T | CA345145461 | ACTA1 | c.959C>A (p.Thr320Asn) c.824C>A (p.Thr275Asn) c.590C>A (p.Thr197Asn) | |
1 | g.229431753T>A | CA345145468 | ACTA1 | c.958A>T (p.Thr320Ser) c.823A>T (p.Thr275Ser) c.589A>T (p.Thr197Ser) | |
1 | g.229431753T>C | CA345145470 | ACTA1 | c.958A>G (p.Thr320Ala) c.823A>G (p.Thr275Ala) c.589A>G (p.Thr197Ala) | |
1 | g.229431753T>G | CA345145472 | ACTA1 | c.958A>C (p.Thr320Pro) c.823A>C (p.Thr275Pro) c.589A>C (p.Thr197Pro) | |
1 | g.229431754_229431756dup | CA38815072 | ACTA1 | c.956_958dup (p.Ile319_Thr320insIle) c.821_823dup (p.Ile274_Thr275insIle) c.587_589dup (p.Ile196_Thr197insIle) | dbSNP |
1 | g.229431754G>A | CA423754927 | ACTA1 | c.957C>T (p.Ile319=) c.822C>T (p.Ile274=) c.588C>T (p.Ile196=) | |
1 | g.229431754G>C | CA345145476 | ACTA1 | c.957C>G (p.Ile319Met) c.822C>G (p.Ile274Met) c.588C>G (p.Ile196Met) | |
1 | g.229431754G>T | CA423754928 | ACTA1 | c.957C>A (p.Ile319=) c.822C>A (p.Ile274=) c.588C>A (p.Ile196=) | gnomAD v4 |
1 | g.229431755A>C | CA345145487 | ACTA1 | c.956T>G (p.Ile319Ser) c.821T>G (p.Ile274Ser) c.587T>G (p.Ile196Ser) | |
1 | g.229431755A>G | CA345145481 | ACTA1 | c.956T>C (p.Ile319Thr) c.821T>C (p.Ile274Thr) c.587T>C (p.Ile196Thr) | gnomAD v4 |
1 | g.229431755A>T | CA345145484 | ACTA1 | c.956T>A (p.Ile319Asn) c.821T>A (p.Ile274Asn) c.587T>A (p.Ile196Asn) | |
1 | g.229431755_229431757delinsATC | CA1226125479 | ACTA1 | c.954_956delinsGAT (p.Glu318=) c.819_821delinsGAT (p.Glu273=) c.585_587delinsGAT (p.Glu195=) | |
1 | g.229431756T>A | CA345145490 | ACTA1 | c.955A>T (p.Ile319Phe) c.820A>T (p.Ile274Phe) c.586A>T (p.Ile196Phe) | |
1 | g.229431756T>C | CA345145492 | ACTA1 | c.955A>G (p.Ile319Val) c.820A>G (p.Ile274Val) c.586A>G (p.Ile196Val) | |
1 | g.229431756T>G | CA345145495 | ACTA1 | c.955A>C (p.Ile319Leu) c.820A>C (p.Ile274Leu) c.586A>C (p.Ile196Leu) | |
1 | g.229431759_229431760del | CA1226125480 | ACTA1 | c.954_955del (p.Glu318AspfsTer?) c.819_820del (p.Glu273AspfsTer?) c.585_586del (p.Glu195AspfsTer?) | dbSNP |
1 | g.229431757C>A | CA345145497 | ACTA1 | c.954G>T (p.Glu318Asp) c.819G>T (p.Glu273Asp) c.585G>T (p.Glu195Asp) | |
1 | g.229431757C>G | CA345145499 | ACTA1 | c.954G>C (p.Glu318Asp) c.819G>C (p.Glu273Asp) c.585G>C (p.Glu195Asp) | ClinVar |
1 | g.229431757C>T | CA423754930 | ACTA1 | c.954G>A (p.Glu318=) c.819G>A (p.Glu273=) c.585G>A (p.Glu195=) | |
1 | g.229431758T>A | CA345145501 | ACTA1 | c.953A>T (p.Glu318Val) c.818A>T (p.Glu273Val) c.584A>T (p.Glu195Val) | |
1 | g.229431758T>C | CA345145505 | ACTA1 | c.953A>G (p.Glu318Gly) c.818A>G (p.Glu273Gly) c.584A>G (p.Glu195Gly) | |
1 | g.229431758T>G | CA345145503 | ACTA1 | c.953A>C (p.Glu318Ala) c.818A>C (p.Glu273Ala) c.584A>C (p.Glu195Ala) | |
1 | g.229431759C>A | CA345145508 | ACTA1 | c.952G>T (p.Glu318Ter) c.817G>T (p.Glu273Ter) c.583G>T (p.Glu195Ter) | |
1 | g.229431759C= | CA1226125481 | ACTA1 | c.952G= (p.Glu318=) c.817G= (p.Glu273=) c.583G= (p.Glu195=) | |
1 | g.229431759C>G | CA345145510 | ACTA1 | c.952G>C (p.Glu318Gln) c.817G>C (p.Glu273Gln) c.583G>C (p.Glu195Gln) | |
1 | g.229431759C>T | CA345145511 | ACTA1 | c.952G>A (p.Glu318Lys) c.817G>A (p.Glu273Lys) c.583G>A (p.Glu195Lys) | dbSNP COSMIC |
1 | g.229431760T>A | CA345145514 | ACTA1 | c.951A>T (p.Lys317Asn) c.816A>T (p.Lys272Asn) c.582A>T (p.Lys194Asn) | |
1 | g.229431760T>C | CA423754933 | ACTA1 | c.951A>G (p.Lys317=) c.816A>G (p.Lys272=) c.582A>G (p.Lys194=) | dbSNP gnomAD v4 |
1 | g.229431760T>G | CA345145515 | ACTA1 | c.951A>C (p.Lys317Asn) c.816A>C (p.Lys272Asn) c.582A>C (p.Lys194Asn) | |
1 | g.229431760T= | CA1226125483 | ACTA1 | c.951A= (p.Lys317=) c.816A= (p.Lys272=) c.582A= (p.Lys194=) | |
1 | g.229431762dup | CA1226125482 | ACTA1 | c.951dup (p.Glu318ArgfsTer?) c.816dup (p.Glu273ArgfsTer?) c.582dup (p.Glu195ArgfsTer?) | dbSNP |
1 | g.229431761T>A | CA345145518 | ACTA1 | c.950A>T (p.Lys317Ile) c.815A>T (p.Lys272Ile) c.581A>T (p.Lys194Ile) | |
1 | g.229431761T>C | CA345145520 | ACTA1 | c.950A>G (p.Lys317Arg) c.815A>G (p.Lys272Arg) c.581A>G (p.Lys194Arg) | |
1 | g.229431761T>G | CA345145521 | ACTA1 | c.950A>C (p.Lys317Thr) c.815A>C (p.Lys272Thr) c.581A>C (p.Lys194Thr) | |
1 | g.229431762T>A | CA345145523 | ACTA1 | c.949A>T (p.Lys317Ter) c.814A>T (p.Lys272Ter) c.580A>T (p.Lys194Ter) | |
1 | g.229431762T>C | CA345145524 | ACTA1 | c.949A>G (p.Lys317Glu) c.814A>G (p.Lys272Glu) c.580A>G (p.Lys194Glu) | |
1 | g.229431762T>G | CA345145525 | ACTA1 | c.949A>C (p.Lys317Gln) c.814A>C (p.Lys272Gln) c.580A>C (p.Lys194Gln) | |
1 | g.229431763C>A | CA345145529 | ACTA1 | c.948G>T (p.Gln316His) c.813G>T (p.Gln271His) c.579G>T (p.Gln193His) | gnomAD v4 |
1 | g.229431763C= | CA1226125484 | ACTA1 | c.948G= (p.Gln316=) c.813G= (p.Gln271=) c.579G= (p.Gln193=) | |
1 | g.229431763C>G | CA345145528 | ACTA1 | c.948G>C (p.Gln316His) c.813G>C (p.Gln271His) c.579G>C (p.Gln193His) | COSMIC |
1 | g.229431763C>T | CA1442751 | ACTA1 | c.948G>A (p.Gln316=) c.813G>A (p.Gln271=) c.579G>A (p.Gln193=) | dbSNP ExAC gnomAD v4 |
1 | g.229431764T>A | CA345145530 | ACTA1 | c.947A>T (p.Gln316Leu) c.812A>T (p.Gln271Leu) c.578A>T (p.Gln193Leu) | |
1 | g.229431764T>C | CA345145534 | ACTA1 | c.947A>G (p.Gln316Arg) c.812A>G (p.Gln271Arg) c.578A>G (p.Gln193Arg) | |
1 | g.229431764T>G | CA345145532 | ACTA1 | c.947A>C (p.Gln316Pro) c.812A>C (p.Gln271Pro) c.578A>C (p.Gln193Pro) | |
1 | g.229431765G>A | CA345145536 | ACTA1 | c.946C>T (p.Gln316Ter) c.811C>T (p.Gln271Ter) c.577C>T (p.Gln193Ter) | |
1 | g.229431765G>C | CA345145538 | ACTA1 | c.946C>G (p.Gln316Glu) c.811C>G (p.Gln271Glu) c.577C>G (p.Gln193Glu) | |
1 | g.229431765G>T | CA345145540 | ACTA1 | c.946C>A (p.Gln316Lys) c.811C>A (p.Gln271Lys) c.577C>A (p.Gln193Lys) | |
1 | g.229431766C>A | CA345145542 | ACTA1 | c.945G>T (p.Met315Ile) c.810G>T (p.Met270Ile) c.576G>T (p.Met192Ile) | |
1 | g.229431766C>G | CA345145544 | ACTA1 | c.945G>C (p.Met315Ile) c.810G>C (p.Met270Ile) c.576G>C (p.Met192Ile) | |
1 | g.229431766C>T | CA345145546 | ACTA1 | c.945G>A (p.Met315Ile) c.810G>A (p.Met270Ile) c.576G>A (p.Met192Ile) | gnomAD v4 |
1 | g.229431767A>C | CA345145548 | ACTA1 | c.944T>G (p.Met315Arg) c.809T>G (p.Met270Arg) c.575T>G (p.Met192Arg) | |
1 | g.229431767A>G | CA345145550 | ACTA1 | c.944T>C (p.Met315Thr) c.809T>C (p.Met270Thr) c.575T>C (p.Met192Thr) | |
1 | g.229431767A>T | CA345145552 | ACTA1 | c.944T>A (p.Met315Lys) c.809T>A (p.Met270Lys) c.575T>A (p.Met192Lys) | |
1 | g.229431768T>A | CA345145554 | ACTA1 | c.943A>T (p.Met315Leu) c.808A>T (p.Met270Leu) c.574A>T (p.Met192Leu) | |
1 | g.229431768T>C | CA345145557 | ACTA1 | c.943A>G (p.Met315Val) c.808A>G (p.Met270Val) c.574A>G (p.Met192Val) | |
1 | g.229431768T>G | CA345145558 | ACTA1 | c.943A>C (p.Met315Leu) c.808A>C (p.Met270Leu) c.574A>C (p.Met192Leu) | |
1 | g.229431769G>A | CA1442752 | ACTA1 | c.942C>T (p.Arg314=) c.807C>T (p.Arg269=) c.573C>T (p.Arg191=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229431769G>C | CA423754945 | ACTA1 | c.942C>G (p.Arg314=) c.807C>G (p.Arg269=) c.573C>G (p.Arg191=) | |
1 | g.229431769G= | CA1226125485 | ACTA1 | c.942C= (p.Arg314=) c.807C= (p.Arg269=) c.573C= (p.Arg191=) | |
1 | g.229431769G>T | CA423754943 | ACTA1 | c.942C>A (p.Arg314=) c.807C>A (p.Arg269=) c.573C>A (p.Arg191=) | |
1 | g.229431770C>A | CA345145563 | ACTA1 | c.941G>T (p.Arg314Leu) c.806G>T (p.Arg269Leu) c.572G>T (p.Arg191Leu) | gnomAD v4 |
1 | g.229431770C>G | CA345145565 | ACTA1 | c.941G>C (p.Arg314Pro) c.806G>C (p.Arg269Pro) c.572G>C (p.Arg191Pro) | |
1 | g.229431770C>T | CA345145567 | ACTA1 | c.941G>A (p.Arg314His) c.806G>A (p.Arg269His) c.572G>A (p.Arg191His) | COSMIC |
1 | g.229431771G>A | CA345145570 | ACTA1 | c.940C>T (p.Arg314Cys) c.805C>T (p.Arg269Cys) c.571C>T (p.Arg191Cys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229431771G>C | CA345145571 | ACTA1 | c.940C>G (p.Arg314Gly) c.805C>G (p.Arg269Gly) c.571C>G (p.Arg191Gly) | |
1 | g.229431771G= | CA1226125486 | ACTA1 | c.940C= (p.Arg314=) c.805C= (p.Arg269=) c.571C= (p.Arg191=) | |
1 | g.229431771G>T | CA345145572 | ACTA1 | c.940C>A (p.Arg314Ser) c.805C>A (p.Arg269Ser) c.571C>A (p.Arg191Ser) | gnomAD v4 |
1 | g.229431772G>A | CA423754953 | ACTA1 | c.939C>T (p.Asp313=) c.804C>T (p.Asp268=) c.570C>T (p.Asp190=) | |
1 | g.229431772G>C | CA345145574 | ACTA1 | c.939C>G (p.Asp313Glu) c.804C>G (p.Asp268Glu) c.570C>G (p.Asp190Glu) | |
1 | g.229431772G>T | CA345145576 | ACTA1 | c.939C>A (p.Asp313Glu) c.804C>A (p.Asp268Glu) c.570C>A (p.Asp190Glu) | |
1 | g.229431773T>A | CA345145579 | ACTA1 | c.938A>T (p.Asp313Val) c.803A>T (p.Asp268Val) c.569A>T (p.Asp190Val) | |
1 | g.229431773T>C | CA345145581 | ACTA1 | c.938A>G (p.Asp313Gly) c.803A>G (p.Asp268Gly) c.569A>G (p.Asp190Gly) | |
1 | g.229431773T>G | CA345145582 | ACTA1 | c.938A>C (p.Asp313Ala) c.803A>C (p.Asp268Ala) c.569A>C (p.Asp190Ala) | |
1 | g.229431774C>A | CA345145585 | ACTA1 | c.937G>T (p.Asp313Tyr) c.802G>T (p.Asp268Tyr) c.568G>T (p.Asp190Tyr) | |
1 | g.229431774C>G | CA345145586 | ACTA1 | c.937G>C (p.Asp313His) c.802G>C (p.Asp268His) c.568G>C (p.Asp190His) | |
1 | g.229431774C>T | CA345145588 | ACTA1 | c.937G>A (p.Asp313Asn) c.802G>A (p.Asp268Asn) c.568G>A (p.Asp190Asn) | |
1 | g.229431775del | CA2574151193 | ACTA1 | c.936del (p.Asp313ThrfsTer15) c.801del (p.Asp268ThrfsTer15) c.567del (p.Asp190ThrfsTer15) | ClinVar gnomAD v4 |
1 | g.229431775A>C | CA423754961 | ACTA1 | c.936T>G (p.Ala312=) c.801T>G (p.Ala267=) c.567T>G (p.Ala189=) | |
1 | g.229431775A>G | CA423754962 | ACTA1 | c.936T>C (p.Ala312=) c.801T>C (p.Ala267=) c.567T>C (p.Ala189=) | dbSNP |
1 | g.229431775A>T | CA423754963 | ACTA1 | c.936T>A (p.Ala312=) c.801T>A (p.Ala267=) c.567T>A (p.Ala189=) | |
1 | g.229431776G>A | CA345145593 | ACTA1 | c.935C>T (p.Ala312Val) c.800C>T (p.Ala267Val) c.566C>T (p.Ala189Val) | |
1 | g.229431776G>C | CA345145595 | ACTA1 | c.935C>G (p.Ala312Gly) c.800C>G (p.Ala267Gly) c.566C>G (p.Ala189Gly) | |
1 | g.229431776G>T | CA345145591 | ACTA1 | c.935C>A (p.Ala312Asp) c.800C>A (p.Ala267Asp) c.566C>A (p.Ala189Asp) | |
1 | g.229431777C>A | CA345145599 | ACTA1 | c.934G>T (p.Ala312Ser) c.799G>T (p.Ala267Ser) c.565G>T (p.Ala189Ser) | |
1 | g.229431777C>G | CA345145597 | ACTA1 | c.934G>C (p.Ala312Pro) c.799G>C (p.Ala267Pro) c.565G>C (p.Ala189Pro) | |
1 | g.229431777C>T | CA345145601 | ACTA1 | c.934G>A (p.Ala312Thr) c.799G>A (p.Ala267Thr) c.565G>A (p.Ala189Thr) | |
1 | g.229431778G>A | CA423754966 | ACTA1 | c.933C>T (p.Ile311=) c.798C>T (p.Ile266=) c.564C>T (p.Ile188=) | dbSNP gnomAD v4 COSMIC |
1 | g.229431778G>C | CA345145603 | ACTA1 | c.933C>G (p.Ile311Met) c.798C>G (p.Ile266Met) c.564C>G (p.Ile188Met) | gnomAD v4 |
1 | g.229431778G= | CA1226125487 | ACTA1 | c.933C= (p.Ile311=) c.798C= (p.Ile266=) c.564C= (p.Ile188=) | |
1 | g.229431778G>T | CA423754967 | ACTA1 | c.933C>A (p.Ile311=) c.798C>A (p.Ile266=) c.564C>A (p.Ile188=) | |
1 | g.229431779A>C | CA345145609 | ACTA1 | c.932T>G (p.Ile311Ser) c.797T>G (p.Ile266Ser) c.563T>G (p.Ile188Ser) | |
1 | g.229431779A>G | CA345145606 | ACTA1 | c.932T>C (p.Ile311Thr) c.797T>C (p.Ile266Thr) c.563T>C (p.Ile188Thr) | |
1 | g.229431779A>T | CA345145607 | ACTA1 | c.932T>A (p.Ile311Asn) c.797T>A (p.Ile266Asn) c.563T>A (p.Ile188Asn) | |
1 | g.229431780T>A | CA345145612 | ACTA1 | c.931A>T (p.Ile311Phe) c.796A>T (p.Ile266Phe) c.562A>T (p.Ile188Phe) | |
1 | g.229431780T>C | CA345145613 | ACTA1 | c.931A>G (p.Ile311Val) c.796A>G (p.Ile266Val) c.562A>G (p.Ile188Val) | |
1 | g.229431780T>G | CA345145614 | ACTA1 | c.931A>C (p.Ile311Leu) c.796A>C (p.Ile266Leu) c.562A>C (p.Ile188Leu) | |
1 | g.229431780_229431781delinsTC | CA1226125488 | ACTA1 | c.930_931delinsGA (p.Gly310=) c.795_796delinsGA (p.Gly265=) c.561_562delinsGA (p.Gly187=) | |
1 | g.229431781C>A | CA423754968 | ACTA1 | c.930G>T (p.Gly310=) c.795G>T (p.Gly265=) c.561G>T (p.Gly187=) | dbSNP |
1 | g.229431781C= | CA1226125489 | ACTA1 | c.930G= (p.Gly310=) c.795G= (p.Gly265=) c.561G= (p.Gly187=) | |
1 | g.229431781C>G | CA423754972 | ACTA1 | c.930G>C (p.Gly310=) c.795G>C (p.Gly265=) c.561G>C (p.Gly187=) | dbSNP |
1 | g.229431781C>T | CA423754970 | ACTA1 | c.930G>A (p.Gly310=) c.795G>A (p.Gly265=) c.561G>A (p.Gly187=) | |
1 | g.229431783del | CA732579654 | ACTA1 | c.930del (p.Ile311SerfsTer17) c.795del (p.Ile266SerfsTer17) c.561del (p.Ile188SerfsTer17) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229431782C>A | CA345145616 | ACTA1 | c.929G>T (p.Gly310Val) c.794G>T (p.Gly265Val) c.560G>T (p.Gly187Val) | |
1 | g.229431782C>G | CA345145618 | ACTA1 | c.929G>C (p.Gly310Ala) c.794G>C (p.Gly265Ala) c.560G>C (p.Gly187Ala) | |
1 | g.229431782C>T | CA345145620 | ACTA1 | c.929G>A (p.Gly310Glu) c.794G>A (p.Gly265Glu) c.560G>A (p.Gly187Glu) | |
1 | g.229431783C>A | CA345145622 | ACTA1 | c.928G>T (p.Gly310Trp) c.793G>T (p.Gly265Trp) c.559G>T (p.Gly187Trp) | COSMIC |
1 | g.229431783C>G | CA345145624 | ACTA1 | c.928G>C (p.Gly310Arg) c.793G>C (p.Gly265Arg) c.559G>C (p.Gly187Arg) | |
1 | g.229431783C>T | CA345145625 | ACTA1 | c.928G>A (p.Gly310Arg) c.793G>A (p.Gly265Arg) c.559G>A (p.Gly187Arg) | |
1 | g.229431784A= | CA1226125490 | ACTA1 | c.927T= (p.Pro309=) c.792T= (p.Pro264=) c.558T= (p.Pro186=) | |
1 | g.229431784A>C | CA423754976 | ACTA1 | c.927T>G (p.Pro309=) c.792T>G (p.Pro264=) c.558T>G (p.Pro186=) | dbSNP |
1 | g.229431784A>G | CA423754978 | ACTA1 | c.927T>C (p.Pro309=) c.792T>C (p.Pro264=) c.558T>C (p.Pro186=) | dbSNP gnomAD v4 |
1 | g.229431784A>T | CA423754977 | ACTA1 | c.927T>A (p.Pro309=) c.792T>A (p.Pro264=) c.558T>A (p.Pro186=) | dbSNP |
1 | g.229431785G>A | CA345145631 | ACTA1 | c.926C>T (p.Pro309Leu) c.791C>T (p.Pro264Leu) c.557C>T (p.Pro186Leu) | |
1 | g.229431785G>C | CA345145627 | ACTA1 | c.926C>G (p.Pro309Arg) c.791C>G (p.Pro264Arg) c.557C>G (p.Pro186Arg) | |
1 | g.229431785G>T | CA345145629 | ACTA1 | c.926C>A (p.Pro309His) c.791C>A (p.Pro264His) c.557C>A (p.Pro186His) | |
1 | g.229431787dup | CA2574151196 | ACTA1 | c.926dup (p.Gly310TrpfsTer4) c.791dup (p.Gly265TrpfsTer4) c.557dup (p.Gly187TrpfsTer4) | |
1 | g.229431787del | CA2650926597 | ACTA1 | c.926del (p.Pro309LeufsTer19) c.791del (p.Pro264LeufsTer19) c.557del (p.Pro186LeufsTer19) | gnomAD v4 |
1 | g.229431786G>A | CA345145633 | ACTA1 | c.925C>T (p.Pro309Ser) c.790C>T (p.Pro264Ser) c.556C>T (p.Pro186Ser) | ClinVar |
1 | g.229431786G>C | CA345145635 | ACTA1 | c.925C>G (p.Pro309Ala) c.790C>G (p.Pro264Ala) c.556C>G (p.Pro186Ala) | |
1 | g.229431786G>T | CA345145637 | ACTA1 | c.925C>A (p.Pro309Thr) c.790C>A (p.Pro264Thr) c.556C>A (p.Pro186Thr) | |
1 | g.229431787G>A | CA423754988 | ACTA1 | c.924C>T (p.Tyr308=) c.789C>T (p.Tyr263=) c.555C>T (p.Tyr185=) | dbSNP gnomAD v4 |
1 | g.229431787G>C | CA345145640 | ACTA1 | c.924C>G (p.Tyr308Ter) c.789C>G (p.Tyr263Ter) c.555C>G (p.Tyr185Ter) | |
1 | g.229431787G= | CA1226125491 | ACTA1 | c.924C= (p.Tyr308=) c.789C= (p.Tyr263=) c.555C= (p.Tyr185=) | |
1 | g.229431787G>T | CA345145642 | ACTA1 | c.924C>A (p.Tyr308Ter) c.789C>A (p.Tyr263Ter) c.555C>A (p.Tyr185Ter) | dbSNP |
1 | g.229431788T>A | CA345145644 | ACTA1 | c.923A>T (p.Tyr308Phe) c.788A>T (p.Tyr263Phe) c.554A>T (p.Tyr185Phe) | |
1 | g.229431788T>C | CA10575963 | ACTA1 | c.923A>G (p.Tyr308Cys) c.788A>G (p.Tyr263Cys) c.554A>G (p.Tyr185Cys) | ClinVar dbSNP |
1 | g.229431788T>G | CA345145647 | ACTA1 | c.923A>C (p.Tyr308Ser) c.788A>C (p.Tyr263Ser) c.554A>C (p.Tyr185Ser) | |
1 | g.229431788T= | CA1226125492 | ACTA1 | c.923A= (p.Tyr308=) c.788A= (p.Tyr263=) c.554A= (p.Tyr185=) | |
1 | g.229431789A>C | CA345145649 | ACTA1 | c.922T>G (p.Tyr308Asp) c.787T>G (p.Tyr263Asp) c.553T>G (p.Tyr185Asp) | |
1 | g.229431789A>G | CA345145651 | ACTA1 | c.922T>C (p.Tyr308His) c.787T>C (p.Tyr263His) c.553T>C (p.Tyr185His) | ClinVar dbSNP |
1 | g.229431789A>T | CA345145652 | ACTA1 | c.922T>A (p.Tyr308Asn) c.787T>A (p.Tyr263Asn) c.553T>A (p.Tyr185Asn) | |
1 | g.229431790C>A | CA345145657 | ACTA1 | c.921G>T (p.Met307Ile) c.786G>T (p.Met262Ile) c.552G>T (p.Met184Ile) | |
1 | g.229431790C>G | CA345145658 | ACTA1 | c.921G>C (p.Met307Ile) c.786G>C (p.Met262Ile) c.552G>C (p.Met184Ile) | |
1 | g.229431790C>T | CA345145655 | ACTA1 | c.921G>A (p.Met307Ile) c.786G>A (p.Met262Ile) c.552G>A (p.Met184Ile) | |
1 | g.229431791A>C | CA345145661 | ACTA1 | c.920T>G (p.Met307Arg) c.785T>G (p.Met262Arg) c.551T>G (p.Met184Arg) | ClinVar |
1 | g.229431791A>G | CA345145663 | ACTA1 | c.920T>C (p.Met307Thr) c.785T>C (p.Met262Thr) c.551T>C (p.Met184Thr) | |
1 | g.229431791A>T | CA345145664 | ACTA1 | c.920T>A (p.Met307Lys) c.785T>A (p.Met262Lys) c.551T>A (p.Met184Lys) | |
1 | g.229431792T>A | CA345145667 | ACTA1 | c.919A>T (p.Met307Leu) c.784A>T (p.Met262Leu) c.550A>T (p.Met184Leu) | |
1 | g.229431792T>C | CA345145669 | ACTA1 | c.919A>G (p.Met307Val) c.784A>G (p.Met262Val) c.550A>G (p.Met184Val) | |
1 | g.229431792T>G | CA345145670 | ACTA1 | c.919A>C (p.Met307Leu) c.784A>C (p.Met262Leu) c.550A>C (p.Met184Leu) | |
1 | g.229431793C>A | CA423754999 | ACTA1 | c.918G>T (p.Thr306=) c.783G>T (p.Thr261=) c.549G>T (p.Thr183=) | gnomAD v4 |
1 | g.229431793C= | CA1226125493 | ACTA1 | c.918G= (p.Thr306=) c.783G= (p.Thr261=) c.549G= (p.Thr183=) | |
1 | g.229431793C>G | CA423755001 | ACTA1 | c.918G>C (p.Thr306=) c.783G>C (p.Thr261=) c.549G>C (p.Thr183=) | dbSNP gnomAD v4 |
1 | g.229431793C>T | CA423755003 | ACTA1 | c.918G>A (p.Thr306=) c.783G>A (p.Thr261=) c.549G>A (p.Thr183=) | |
1 | g.229431794G>A | CA345145671 | ACTA1 | c.917C>T (p.Thr306Met) c.782C>T (p.Thr261Met) c.548C>T (p.Thr183Met) | |
1 | g.229431794G>C | CA1442753 | ACTA1 | c.917C>G (p.Thr306Arg) c.782C>G (p.Thr261Arg) c.548C>G (p.Thr183Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229431794G= | CA1147422018 | ACTA1 | c.917C= (p.Thr306=) c.782C= (p.Thr261=) c.548C= (p.Thr183=) | |
1 | g.229431794G>T | CA345145673 | ACTA1 | c.917C>A (p.Thr306Lys) c.782C>A (p.Thr261Lys) c.548C>A (p.Thr183Lys) | |
1 | g.229431795T>A | CA345145674 | ACTA1 | c.916A>T (p.Thr306Ser) c.781A>T (p.Thr261Ser) c.547A>T (p.Thr183Ser) | |
1 | g.229431795T>C | CA345145675 | ACTA1 | c.916A>G (p.Thr306Ala) c.781A>G (p.Thr261Ala) c.547A>G (p.Thr183Ala) | |
1 | g.229431795T>G | CA345145677 | ACTA1 | c.916A>C (p.Thr306Pro) c.781A>C (p.Thr261Pro) c.547A>C (p.Thr183Pro) | |
1 | g.229431796G>A | CA423755010 | ACTA1 | c.915C>T (p.Thr305=) c.780C>T (p.Thr260=) c.546C>T (p.Thr182=) | dbSNP |
1 | g.229431796G>C | CA423755011 | ACTA1 | c.915C>G (p.Thr305=) c.780C>G (p.Thr260=) c.546C>G (p.Thr182=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229431796G= | CA1226125494 | ACTA1 | c.915C= (p.Thr305=) c.780C= (p.Thr260=) c.546C= (p.Thr182=) | |
1 | g.229431796G>T | CA423755012 | ACTA1 | c.915C>A (p.Thr305=) c.780C>A (p.Thr260=) c.546C>A (p.Thr182=) | |
1 | g.229431797G>A | CA345145681 | ACTA1 | c.914C>T (p.Thr305Ile) c.779C>T (p.Thr260Ile) c.545C>T (p.Thr182Ile) | dbSNP gnomAD v3 |
1 | g.229431797G>C | CA345145683 | ACTA1 | c.914C>G (p.Thr305Ser) c.779C>G (p.Thr260Ser) c.545C>G (p.Thr182Ser) | |
1 | g.229431797G>T | CA345145680 | ACTA1 | c.914C>A (p.Thr305Asn) c.779C>A (p.Thr260Asn) c.545C>A (p.Thr182Asn) | |
1 | g.229431798T>A | CA345145686 | ACTA1 | c.913A>T (p.Thr305Ser) c.778A>T (p.Thr260Ser) c.544A>T (p.Thr182Ser) | |
1 | g.229431798T>C | CA345145687 | ACTA1 | c.913A>G (p.Thr305Ala) c.778A>G (p.Thr260Ala) c.544A>G (p.Thr182Ala) | gnomAD v4 |
1 | g.229431798T>G | CA345145688 | ACTA1 | c.913A>C (p.Thr305Pro) c.778A>C (p.Thr260Pro) c.544A>C (p.Thr182Pro) | |
1 | g.229431799G>A | CA423755022 | ACTA1 | c.912C>T (p.Gly304=) c.777C>T (p.Gly259=) c.543C>T (p.Gly181=) | dbSNP |
1 | g.229431799G>C | CA423755020 | ACTA1 | c.912C>G (p.Gly304=) c.777C>G (p.Gly259=) c.543C>G (p.Gly181=) | |
1 | g.229431799G= | CA1226125495 | ACTA1 | c.912C= (p.Gly304=) c.777C= (p.Gly259=) c.543C= (p.Gly181=) | |
1 | g.229431799G>T | CA423755023 | ACTA1 | c.912C>A (p.Gly304=) c.777C>A (p.Gly259=) c.543C>A (p.Gly181=) | |
1 | g.229431800C>A | CA345145692 | ACTA1 | c.911G>T (p.Gly304Val) c.776G>T (p.Gly259Val) c.542G>T (p.Gly181Val) | |
1 | g.229431800C>G | CA345145690 | ACTA1 | c.911G>C (p.Gly304Ala) c.776G>C (p.Gly259Ala) c.542G>C (p.Gly181Ala) | |
1 | g.229431800C>T | CA345145689 | ACTA1 | c.911G>A (p.Gly304Asp) c.776G>A (p.Gly259Asp) c.542G>A (p.Gly181Asp) | ClinVar dbSNP gnomAD v4 COSMIC |
1 | g.229431805dup | CA1442754 | ACTA1 | c.911dup (p.Thr305HisfsTer9) c.776dup (p.Thr260HisfsTer9) c.542dup (p.Thr182HisfsTer9) | dbSNP ExAC gnomAD v4 |
1 | g.229431805del | CA423755024 | ACTA1 | c.911del (p.Gly304AlafsTer24) c.776del (p.Gly259AlafsTer24) c.542del (p.Gly181AlafsTer24) | gnomAD v4 COSMIC |
1 | g.229431801C>A | CA345145695 | ACTA1 | c.910G>T (p.Gly304Cys) c.775G>T (p.Gly259Cys) c.541G>T (p.Gly181Cys) | |
1 | g.229431801C>G | CA345145696 | ACTA1 | c.910G>C (p.Gly304Arg) c.775G>C (p.Gly259Arg) c.541G>C (p.Gly181Arg) | |
1 | g.229431801C>T | CA345145698 | ACTA1 | c.910G>A (p.Gly304Ser) c.775G>A (p.Gly259Ser) c.541G>A (p.Gly181Ser) | |
1 | g.229431802C>A | CA423755030 | ACTA1 | c.909G>T (p.Gly303=) c.774G>T (p.Gly258=) c.540G>T (p.Gly180=) | |
1 | g.229431802C= | CA1226125496 | ACTA1 | c.909G= (p.Gly303=) c.774G= (p.Gly258=) c.540G= (p.Gly180=) | |
1 | g.229431802C>G | CA423755031 | ACTA1 | c.909G>C (p.Gly303=) c.774G>C (p.Gly258=) c.540G>C (p.Gly180=) | |
1 | g.229431802C>T | CA423755033 | ACTA1 | c.909G>A (p.Gly303=) c.774G>A (p.Gly258=) c.540G>A (p.Gly180=) | dbSNP |
1 | g.229431803C>A | CA345145700 | ACTA1 | c.908G>T (p.Gly303Val) c.773G>T (p.Gly258Val) c.539G>T (p.Gly180Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229431803C= | CA1226125497 | ACTA1 | c.908G= (p.Gly303=) c.773G= (p.Gly258=) c.539G= (p.Gly180=) | |
1 | g.229431803C>G | CA345145701 | ACTA1 | c.908G>C (p.Gly303Ala) c.773G>C (p.Gly258Ala) c.539G>C (p.Gly180Ala) | dbSNP |
1 | g.229431803C>T | CA345145703 | ACTA1 | c.908G>A (p.Gly303Glu) c.773G>A (p.Gly258Glu) c.539G>A (p.Gly180Glu) | |
1 | g.229431804C>A | CA345145711 | ACTA1 | c.907G>T (p.Gly303Trp) c.772G>T (p.Gly258Trp) c.538G>T (p.Gly180Trp) | |
1 | g.229431804C>G | CA345145709 | ACTA1 | c.907G>C (p.Gly303Arg) c.772G>C (p.Gly258Arg) c.538G>C (p.Gly180Arg) | |
1 | g.229431804C>T | CA345145707 | ACTA1 | c.907G>A (p.Gly303Arg) c.772G>A (p.Gly258Arg) c.538G>A (p.Gly180Arg) | |
1 | g.229431805C>A | CA423755037 | ACTA1 | c.906G>T (p.Ser302=) c.771G>T (p.Ser257=) c.537G>T (p.Ser179=) | dbSNP |
1 | g.229431805C= | CA1149104533 | ACTA1 | c.906G= (p.Ser302=) c.771G= (p.Ser257=) c.537G= (p.Ser179=) | |
1 | g.229431805C>G | CA423755038 | ACTA1 | c.906G>C (p.Ser302=) c.771G>C (p.Ser257=) c.537G>C (p.Ser179=) | |
1 | g.229431805C>T | CA1442755 | ACTA1 | c.906G>A (p.Ser302=) c.771G>A (p.Ser257=) c.537G>A (p.Ser179=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |