Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.229431900_229431991delinsTACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTC | CA1226125534 | ACTA1 | c.808+3_811delinsGAGCCCCGCTCGCCCTCGCCCCGGCCCCCAGGCCCCGCCGGCCCCCGGCGCCCCGAGCTTCTGCTCACGCTCCCCGCCGCGGTCCCCAGGTA c.673+3_676delinsGAGCCCCGCTCGCCCTCGCCCCGGCCCCCAGGCCCCGCCGGCCCCCGGCGCCCCGAGCTTCTGCTCACGCTCCCCGCCGCGGTCCCCAGGTA c.480-129_480-38delinsGAGCCCCGCTCGCCCTCGCCCCGGCCCCCAGGCCCCGCCGGCCCCCGGCGCCCCGAGCTTCTGCTCACGCTCCCCGCCGCGGTCCCCAGGTA (n.480-129_480-38delinsGAGCCCCGCTCGCCCTCGCCCCGGCCCCCAGGCCCCGCCGGCCCCCGGCGCCCCGAGCTTCTGCTCACGCTCCCCGCCGCGGTCCCCAGGTA) | |
1 | g.229431904_229431994del | CA529915234 | ACTA1 | c.808+3_810del c.673+3_675del c.480-129_480-39del (n.480-129_480-39del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229431916_229431937delinsCGGGGAGCGTGAGCAGAAGCTC | CA1226125551 | ACTA1 | c.809-35_809-14delinsGAGCTTCTGCTCACGCTCCCCG (n.809-35_809-14delinsGAGCTTCTGCTCACGCTCCCCG) c.674-35_674-14delinsGAGCTTCTGCTCACGCTCCCCG (n.674-35_674-14delinsGAGCTTCTGCTCACGCTCCCCG) c.480-75_480-54delinsGAGCTTCTGCTCACGCTCCCCG (n.480-75_480-54delinsGAGCTTCTGCTCACGCTCCCCG) | |
1 | g.229431916_229431937delinsGGGGGGAGCGTGAGCAGAAGCT | CA658795613 | ACTA1 | c.809-35_809-14delinsAGCTTCTGCTCACGCTCCCCCC (n.809-35_809-14delinsAGCTTCTGCTCACGCTCCCCCC) c.674-35_674-14delinsAGCTTCTGCTCACGCTCCCCCC (n.674-35_674-14delinsAGCTTCTGCTCACGCTCCCCCC) c.480-75_480-54delinsAGCTTCTGCTCACGCTCCCCCC (n.480-75_480-54delinsAGCTTCTGCTCACGCTCCCCCC) | ClinVar dbSNP |
1 | g.229431921_229431937delinsGAGCGTGAGCAGAAGCT | CA16617083 | ACTA1 | c.809-35_809-19delinsAGCTTCTGCTCACGCTC (n.809-35_809-19delinsAGCTTCTGCTCACGCTC) c.674-35_674-19delinsAGCTTCTGCTCACGCTC (n.674-35_674-19delinsAGCTTCTGCTCACGCTC) c.480-75_480-59delinsAGCTTCTGCTCACGCTC (n.480-75_480-59delinsAGCTTCTGCTCACGCTC) | ClinVar dbSNP |
1 | g.229431921_229431937delinsAGCGTGAGCAGAAGCTC | CA1226125560 | ACTA1 | c.809-35_809-19delinsGAGCTTCTGCTCACGCT (n.809-35_809-19delinsGAGCTTCTGCTCACGCT) c.674-35_674-19delinsGAGCTTCTGCTCACGCT (n.674-35_674-19delinsGAGCTTCTGCTCACGCT) c.480-75_480-59delinsGAGCTTCTGCTCACGCT (n.480-75_480-59delinsGAGCTTCTGCTCACGCT) | |
1 | g.229431935C>G | CA2545349774 | ACTA1 | c.809-33G>C (n.809-33G>C) c.674-33G>C (n.674-33G>C) c.480-73G>C (n.480-73G>C) | |
1 | g.229431935_229431936delinsCT | CA1226125569 | ACTA1 | c.809-34_809-33delinsAG (n.809-34_809-33delinsAG) c.674-34_674-33delinsAG (n.674-34_674-33delinsAG) c.480-74_480-73delinsAG (n.480-74_480-73delinsAG) | |
1 | g.229431936del | CA732579983 | ACTA1 | c.809-34del (n.809-34del) c.674-34del (n.674-34del) c.480-74del (n.480-74del) | dbSNP gnomAD v4 |
1 | g.229431936T>C | CA2650926614 | ACTA1 | c.809-34A>G (n.809-34A>G) c.674-34A>G (n.674-34A>G) c.480-74A>G (n.480-74A>G) | gnomAD v4 |
1 | g.229431936T= | CA2742038428 | ACTA1 | c.809-34A= (n.809-34A=) c.674-34A= (n.674-34A=) c.480-74A= (n.480-74A=) | |
1 | g.229431936_229431937delinsTC | CA1226125570 | ACTA1 | c.809-35_809-34delinsGA (n.809-35_809-34delinsGA) c.674-35_674-34delinsGA (n.674-35_674-34delinsGA) c.480-75_480-74delinsGA (n.480-75_480-74delinsGA) | |
1 | g.229431937del | CA147050 | ACTA1 | c.809-35del (n.809-35del) c.674-35del (n.674-35del) c.480-75del (n.480-75del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
1 | g.229431937C>A | CA2581682296 | ACTA1 | c.809-35G>T (n.809-35G>T) c.674-35G>T (n.674-35G>T) c.480-75G>T (n.480-75G>T) | |
1 | g.229431937C= | CA1140685062 | ACTA1 | c.809-35G= (n.809-35G=) c.674-35G= (n.674-35G=) c.480-75G= (n.480-75G=) | |
1 | g.229431937C>G | CA1442781 | ACTA1 | c.809-35G>C (n.809-35G>C) c.674-35G>C (n.674-35G>C) c.480-75G>C (n.480-75G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229431937C>T | CA1226125571 | ACTA1 | c.809-35G>A (n.809-35G>A) c.674-35G>A (n.674-35G>A) c.480-75G>A (n.480-75G>A) | dbSNP gnomAD v4 |
1 | g.229431937dup | CA2698259914 | ACTA1 | c.809-35dup (n.809-35dup) c.674-35dup (n.674-35dup) c.480-75dup (n.480-75dup) | dbSNP |
1 | g.229431937_229431940del | CA2748068640 | ACTA1 | c.809-38_809-35del (n.809-38_809-35del) c.674-38_674-35del (n.674-38_674-35del) c.480-78_480-75del (n.480-78_480-75del) | |
1 | g.229431938G>A | CA2650926615 | ACTA1 | c.809-36C>T (n.809-36C>T) c.674-36C>T (n.674-36C>T) c.480-76C>T (n.480-76C>T) | gnomAD v4 |
1 | g.229431938G>C | CA2650926616 | ACTA1 | c.809-36C>G (n.809-36C>G) c.674-36C>G (n.674-36C>G) c.480-76C>G (n.480-76C>G) | gnomAD v4 |
1 | g.229431941del | CA345146368 | ACTA1 | c.809-36del (n.809-36del) c.674-36del (n.674-36del) c.480-76del (n.480-76del) | |
1 | g.229431939G= | CA1226125572 | ACTA1 | c.809-37C= (n.809-37C=) c.674-37C= (n.674-37C=) c.480-77C= (n.480-77C=) | |
1 | g.229431939G>T | CA1226125573 | ACTA1 | c.809-37C>A (n.809-37C>A) c.674-37C>A (n.674-37C>A) c.480-77C>A (n.480-77C>A) | dbSNP |
1 | g.229431940G>C | CA529915242 | ACTA1 | c.809-38C>G (n.809-38C>G) c.674-38C>G (n.674-38C>G) c.480-78C>G (n.480-78C>G) | dbSNP gnomAD v2 |
1 | g.229431940G= | CA1226125574 | ACTA1 | c.809-38C= (n.809-38C=) c.674-38C= (n.674-38C=) c.480-78C= (n.480-78C=) | |
1 | g.229431940_229431941insTA | CA2513508504 | ACTA1 | c.809-39_809-38insTA (n.809-39_809-38insTA) c.674-39_674-38insTA (n.674-39_674-38insTA) c.480-79_480-78insTA (n.480-79_480-78insTA) | |
1 | g.229431941G= | CA1226125575 | ACTA1 | c.809-39C= (n.809-39C=) c.674-39C= (n.674-39C=) c.480-79C= (n.480-79C=) | |
1 | g.229431941G>T | CA1226125576 | ACTA1 | c.809-39C>A (n.809-39C>A) c.674-39C>A (n.674-39C>A) c.480-79C>A (n.480-79C>A) | dbSNP |
1 | g.229431942del | CA2530522156 | ACTA1 | c.809-40del (n.809-40del) c.674-40del (n.674-40del) c.480-80del (n.480-80del) | |
1 | g.229431942C>A | CA2650926617 | ACTA1 | c.809-40G>T (n.809-40G>T) c.674-40G>T (n.674-40G>T) c.480-80G>T (n.480-80G>T) | gnomAD v4 |
1 | g.229431943G>A | CA1442783 | ACTA1 | c.809-41C>T (n.809-41C>T) c.674-41C>T (n.674-41C>T) c.480-81C>T (n.480-81C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229431943G= | CA1226125577 | ACTA1 | c.809-41C= (n.809-41C=) c.674-41C= (n.674-41C=) c.480-81C= (n.480-81C=) | |
1 | g.229431943G>T | CA1442782 | ACTA1 | c.809-41C>A (n.809-41C>A) c.674-41C>A (n.674-41C>A) c.480-81C>A (n.480-81C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229431944C= | CA1143914837 | ACTA1 | c.809-42G= (n.809-42G=) c.674-42G= (n.674-42G=) c.480-82G= (n.480-82G=) | |
1 | g.229431944C>G | CA2650926618 | ACTA1 | c.809-42G>C (n.809-42G>C) c.674-42G>C (n.674-42G>C) c.480-82G>C (n.480-82G>C) | gnomAD v4 |
1 | g.229431944C>T | CA1442784 | ACTA1 | c.809-42G>A (n.809-42G>A) c.674-42G>A (n.674-42G>A) c.480-82G>A (n.480-82G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229431944_229431945insAAAAAACAACCAAACACA | CA2748068643 | ACTA1 | c.809-43_809-42insTGTGTTTGGTTGTTTTTT (n.809-43_809-42insTGTGTTTGGTTGTTTTTT) c.674-43_674-42insTGTGTTTGGTTGTTTTTT (n.674-43_674-42insTGTGTTTGGTTGTTTTTT) c.480-83_480-82insTGTGTTTGGTTGTTTTTT (n.480-83_480-82insTGTGTTTGGTTGTTTTTT) | |
1 | g.229431945C>A | CA1442785 | ACTA1 | c.809-43G>T (n.809-43G>T) c.674-43G>T (n.674-43G>T) c.480-83G>T (n.480-83G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229431945C= | CA1142900921 | ACTA1 | c.809-43G= (n.809-43G=) c.674-43G= (n.674-43G=) c.480-83G= (n.480-83G=) | |
1 | g.229431945C>G | CA529915243 | ACTA1 | c.809-43G>C (n.809-43G>C) c.674-43G>C (n.674-43G>C) c.480-83G>C (n.480-83G>C) | gnomAD v2 gnomAD v4 |
1 | g.229431945C>T | CA2574151239 | ACTA1 | c.809-43G>A (n.809-43G>A) c.674-43G>A (n.674-43G>A) c.480-83G>A (n.480-83G>A) | gnomAD v4 |
1 | g.229431945_229431946delinsCG | CA1226125578 | ACTA1 | c.809-44_809-43delinsCG (n.809-44_809-43delinsCG) c.674-44_674-43delinsCG (n.674-44_674-43delinsCG) c.480-84_480-83delinsCG (n.480-84_480-83delinsCG) | |
1 | g.229431946G>A | CA1442789 | ACTA1 | c.809-44C>T (n.809-44C>T) c.674-44C>T (n.674-44C>T) c.480-84C>T (n.480-84C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229431946G>C | CA1442788 | ACTA1 | c.809-44C>G (n.809-44C>G) c.674-44C>G (n.674-44C>G) c.480-84C>G (n.480-84C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229431946G= | CA1143632088 | ACTA1 | c.809-44C= (n.809-44C=) c.674-44C= (n.674-44C=) c.480-84C= (n.480-84C=) | |
1 | g.229431946G>T | CA1442790 | ACTA1 | c.809-44C>A (n.809-44C>A) c.674-44C>A (n.674-44C>A) c.480-84C>A (n.480-84C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229431950dup | CA2748068645 | ACTA1 | c.809-44dup (n.809-44dup) c.674-44dup (n.674-44dup) c.480-84dup (n.480-84dup) | |
1 | g.229431950del | CA1442786 | ACTA1 | c.809-44del (n.809-44del) c.674-44del (n.674-44del) c.480-84del (n.480-84del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229431947G>C | CA2569210873 | ACTA1 | c.809-45C>G (n.809-45C>G) c.674-45C>G (n.674-45C>G) c.480-85C>G (n.480-85C>G) |