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.229431700C= | CA1144880123 | ACTA1 | c.990+21G= (n.990+21G=) c.855+21G= (n.855+21G=) c.621+21G= (n.621+21G=) | |
1 | g.229431700C>T | CA38814987 | ACTA1 | c.990+21G>A (n.990+21G>A) c.855+21G>A (n.855+21G>A) c.621+21G>A (n.621+21G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229431701C= | CA1226125453 | ACTA1 | c.990+20G= (n.990+20G=) c.855+20G= (n.855+20G=) c.621+20G= (n.621+20G=) | |
1 | g.229431701C>G | CA1442740 | ACTA1 | c.990+20G>C (n.990+20G>C) c.855+20G>C (n.855+20G>C) c.621+20G>C (n.621+20G>C) | dbSNP ExAC gnomAD v2 |
1 | g.229431702C= | CA1226125454 | ACTA1 | c.990+19G= (n.990+19G=) c.855+19G= (n.855+19G=) c.621+19G= (n.621+19G=) | |
1 | g.229431702C>G | CA1442741 | ACTA1 | c.990+19G>C (n.990+19G>C) c.855+19G>C (n.855+19G>C) c.621+19G>C (n.621+19G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229431702C>T | CA1226125455 | ACTA1 | c.990+19G>A (n.990+19G>A) c.855+19G>A (n.855+19G>A) c.621+19G>A (n.621+19G>A) | dbSNP |
1 | g.229431703G= | CA1226125456 | ACTA1 | c.990+18C= (n.990+18C=) c.855+18C= (n.855+18C=) c.621+18C= (n.621+18C=) | |
1 | g.229431703G>T | CA1226125457 | ACTA1 | c.990+18C>A (n.990+18C>A) c.855+18C>A (n.855+18C>A) c.621+18C>A (n.621+18C>A) | dbSNP gnomAD v4 |
1 | g.229431704C= | CA1143599819 | ACTA1 | c.990+17G= (n.990+17G=) c.855+17G= (n.855+17G=) c.621+17G= (n.621+17G=) | |
1 | g.229431704C>G | CA1442742 | ACTA1 | c.990+17G>C (n.990+17G>C) c.855+17G>C (n.855+17G>C) c.621+17G>C (n.621+17G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229431704C>T | CA1442743 | ACTA1 | c.990+17G>A (n.990+17G>A) c.855+17G>A (n.855+17G>A) c.621+17G>A (n.621+17G>A) | dbSNP ExAC 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.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 |