Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.229432189_229432272del | CA529915257 | ACTA1 | c.616+1_617-1del c.481+1_482-1del c.479+138_479+221del (n.479+138_479+221del) | gnomAD v2 gnomAD v4 |
1 | g.229432202C>A | CA2650926649 | ACTA1 | c.617-17G>T (n.617-17G>T) c.482-17G>T (n.482-17G>T) c.479+205G>T (n.479+205G>T) | gnomAD v4 |
1 | g.229432202C>G | CA2650926650 | ACTA1 | c.617-17G>C (n.617-17G>C) c.482-17G>C (n.482-17G>C) c.479+205G>C (n.479+205G>C) | gnomAD v4 |
1 | g.229432203A= | CA1226125681 | ACTA1 | c.617-18T= (n.617-18T=) c.482-18T= (n.482-18T=) c.479+204T= (n.479+204T=) | |
1 | g.229432203A>C | CA529915267 | ACTA1 | c.617-18T>G (n.617-18T>G) c.482-18T>G (n.482-18T>G) c.479+204T>G (n.479+204T>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432203A>G | CA2650926651 | ACTA1 | c.617-18T>C (n.617-18T>C) c.482-18T>C (n.482-18T>C) c.479+204T>C (n.479+204T>C) | gnomAD v4 |
1 | g.229432203A>T | CA529915268 | ACTA1 | c.617-18T>A (n.617-18T>A) c.482-18T>A (n.482-18T>A) c.479+204T>A (n.479+204T>A) | dbSNP gnomAD v2 |
1 | g.229432204G>A | CA2650926652 | ACTA1 | c.617-19C>T (n.617-19C>T) c.482-19C>T (n.482-19C>T) c.479+203C>T (n.479+203C>T) | gnomAD v4 |
1 | g.229432205G>A | CA529915269 | ACTA1 | c.617-20C>T (n.617-20C>T) c.482-20C>T (n.482-20C>T) c.479+202C>T (n.479+202C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432205G= | CA1226125682 | ACTA1 | c.617-20C= (n.617-20C=) c.482-20C= (n.482-20C=) c.479+202C= (n.479+202C=) | |
1 | g.229432206A>T | CA2650926653 | ACTA1 | c.617-21T>A (n.617-21T>A) c.482-21T>A (n.482-21T>A) c.479+201T>A (n.479+201T>A) | gnomAD v4 |
1 | g.229432207G>A | CA1226125684 | ACTA1 | c.617-22C>T (n.617-22C>T) c.482-22C>T (n.482-22C>T) c.479+200C>T (n.479+200C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432207G= | CA1226125683 | ACTA1 | c.617-22C= (n.617-22C=) c.482-22C= (n.482-22C=) c.479+200C= (n.479+200C=) | |
1 | g.229432208A>T | CA2650926654 | ACTA1 | c.617-23T>A (n.617-23T>A) c.482-23T>A (n.482-23T>A) c.479+199T>A (n.479+199T>A) | gnomAD v4 |
1 | g.229432210G>A | CA1442823 | ACTA1 | c.617-25C>T (n.617-25C>T) c.482-25C>T (n.482-25C>T) c.479+197C>T (n.479+197C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432210G>C | CA2650926655 | ACTA1 | c.617-25C>G (n.617-25C>G) c.482-25C>G (n.482-25C>G) c.479+197C>G (n.479+197C>G) | gnomAD v4 |
1 | g.229432210G= | CA1226125685 | ACTA1 | c.617-25C= (n.617-25C=) c.482-25C= (n.482-25C=) c.479+197C= (n.479+197C=) | |
1 | g.229432211A= | CA1226125686 | ACTA1 | c.617-26T= (n.617-26T=) c.482-26T= (n.482-26T=) c.479+196T= (n.479+196T=) | |
1 | g.229432211A>C | CA1442824 | ACTA1 | c.617-26T>G (n.617-26T>G) c.482-26T>G (n.482-26T>G) c.479+196T>G (n.479+196T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229432212G>A | CA529915270 | ACTA1 | c.617-27C>T (n.617-27C>T) c.482-27C>T (n.482-27C>T) c.479+195C>T (n.479+195C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432212G= | CA1226125687 | ACTA1 | c.617-27C= (n.617-27C=) c.482-27C= (n.482-27C=) c.479+195C= (n.479+195C=) | |
1 | g.229432212G>T | CA2510327867 | ACTA1 | c.617-27C>A (n.617-27C>A) c.482-27C>A (n.482-27C>A) c.479+195C>A (n.479+195C>A) | |
1 | g.229432213C>A | CA1442826 | ACTA1 | c.617-28G>T (n.617-28G>T) c.482-28G>T (n.482-28G>T) c.479+194G>T (n.479+194G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432213C= | CA1143505255 | ACTA1 | c.617-28G= (n.617-28G=) c.482-28G= (n.482-28G=) c.479+194G= (n.479+194G=) | |
1 | g.229432213C>G | CA1442825 | ACTA1 | c.617-28G>C (n.617-28G>C) c.482-28G>C (n.482-28G>C) c.479+194G>C (n.479+194G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432213_229432218delinsCCCTCA | CA1226125688 | ACTA1 | c.617-33_617-28delinsTGAGGG (n.617-33_617-28delinsTGAGGG) c.482-33_482-28delinsTGAGGG (n.482-33_482-28delinsTGAGGG) c.479+189_479+194delinsTGAGGG (n.479+189_479+194delinsTGAGGG) | |
1 | g.229432215_229432219del | CA1226125689 | ACTA1 | c.617-33_617-29del (n.617-33_617-29del) c.482-33_482-29del (n.482-33_482-29del) c.479+189_479+193del (n.479+189_479+193del) | dbSNP gnomAD v4 |
1 | g.229432215C>A | CA2650926656 | ACTA1 | c.617-30G>T (n.617-30G>T) c.482-30G>T (n.482-30G>T) c.479+192G>T (n.479+192G>T) | gnomAD v4 |
1 | g.229432215C= | CA1226125690 | ACTA1 | c.617-30G= (n.617-30G=) c.482-30G= (n.482-30G=) c.479+192G= (n.479+192G=) | |
1 | g.229432215C>T | CA1442827 | ACTA1 | c.617-30G>A (n.617-30G>A) c.482-30G>A (n.482-30G>A) c.479+192G>A (n.479+192G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229432217C>A | CA1442828 | ACTA1 | c.617-32G>T (n.617-32G>T) c.482-32G>T (n.482-32G>T) c.479+190G>T (n.479+190G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229432217C= | CA1226125691 | ACTA1 | c.617-32G= (n.617-32G=) c.482-32G= (n.482-32G=) c.479+190G= (n.479+190G=) | |
1 | g.229432217C>T | CA732580501 | ACTA1 | c.617-32G>A (n.617-32G>A) c.482-32G>A (n.482-32G>A) c.479+190G>A (n.479+190G>A) | dbSNP gnomAD v4 |
1 | g.229432218A>G | CA2650926657 | ACTA1 | c.617-33T>C (n.617-33T>C) c.482-33T>C (n.482-33T>C) c.479+189T>C (n.479+189T>C) | gnomAD v4 |
1 | g.229432219C>G | CA2574151283 | ACTA1 | c.617-34G>C (n.617-34G>C) c.482-34G>C (n.482-34G>C) c.479+188G>C (n.479+188G>C) | |
1 | g.229432219C>T | CA2570704042 | ACTA1 | c.617-34G>A (n.617-34G>A) c.482-34G>A (n.482-34G>A) c.479+188G>A (n.479+188G>A) | |
1 | g.229432221del | CA2748068666 | ACTA1 | c.617-36del (n.617-36del) c.482-36del (n.482-36del) c.479+186del (n.479+186del) | |
1 | g.229432223G>A | CA2748068667 | ACTA1 | c.617-38C>T (n.617-38C>T) c.482-38C>T (n.482-38C>T) c.479+184C>T (n.479+184C>T) | |
1 | g.229432226del | CA2650926658 | ACTA1 | c.617-38del (n.617-38del) c.482-38del (n.482-38del) c.479+184del (n.479+184del) | gnomAD v4 |
1 | g.229432224G>A | CA2650926659 | ACTA1 | c.617-39C>T (n.617-39C>T) c.482-39C>T (n.482-39C>T) c.479+183C>T (n.479+183C>T) | gnomAD v4 |
1 | g.229432224G>C | CA1226125693 | ACTA1 | c.617-39C>G (n.617-39C>G) c.482-39C>G (n.482-39C>G) c.479+183C>G (n.479+183C>G) | dbSNP |
1 | g.229432224G= | CA1226125692 | ACTA1 | c.617-39C= (n.617-39C=) c.482-39C= (n.482-39C=) c.479+183C= (n.479+183C=) | |
1 | g.229432226G>A | CA529915271 | ACTA1 | c.617-41C>T (n.617-41C>T) c.482-41C>T (n.482-41C>T) c.479+181C>T (n.479+181C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432226G= | CA1226125694 | ACTA1 | c.617-41C= (n.617-41C=) c.482-41C= (n.482-41C=) c.479+181C= (n.479+181C=) | |
1 | g.229432227C= | CA1226125695 | ACTA1 | c.617-42G= (n.617-42G=) c.482-42G= (n.482-42G=) c.479+180G= (n.479+180G=) | |
1 | g.229432227C>T | CA1226125696 | ACTA1 | c.617-42G>A (n.617-42G>A) c.482-42G>A (n.482-42G>A) c.479+180G>A (n.479+180G>A) | dbSNP gnomAD v4 |
1 | g.229432228C>A | CA2574151284 | ACTA1 | c.617-43G>T (n.617-43G>T) c.482-43G>T (n.482-43G>T) c.479+179G>T (n.479+179G>T) | |
1 | g.229432228C= | CA1226125697 | ACTA1 | c.617-43G= (n.617-43G=) c.482-43G= (n.482-43G=) c.479+179G= (n.479+179G=) | |
1 | g.229432228C>G | CA1226125698 | ACTA1 | c.617-43G>C (n.617-43G>C) c.482-43G>C (n.482-43G>C) c.479+179G>C (n.479+179G>C) | dbSNP gnomAD v4 |
1 | g.229432228C>T | CA2650926660 | ACTA1 | c.617-43G>A (n.617-43G>A) c.482-43G>A (n.482-43G>A) c.479+179G>A (n.479+179G>A) | gnomAD v4 |
1 | g.229432229G>C | CA1442829 | ACTA1 | c.616+41C>G (n.616+41C>G) c.481+41C>G (n.481+41C>G) c.479+178C>G (n.479+178C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229432229G= | CA1149141996 | ACTA1 | c.616+41C= (n.616+41C=) c.481+41C= (n.481+41C=) c.479+178C= (n.479+178C=) | |
1 | g.229432230C>G | CA2574151285 | ACTA1 | c.616+40G>C (n.616+40G>C) c.481+40G>C (n.481+40G>C) c.479+177G>C (n.479+177G>C) | |
1 | g.229432231C>A | CA2839076340 | ACTA1 | c.616+39G>T (n.616+39G>T) c.481+39G>T (n.481+39G>T) c.479+176G>T (n.479+176G>T) | |
1 | g.229432231C= | CA1226125699 | ACTA1 | c.616+39G= (n.616+39G=) c.481+39G= (n.481+39G=) c.479+176G= (n.479+176G=) | |
1 | g.229432231C>T | CA38815795 | ACTA1 | c.616+39G>A (n.616+39G>A) c.481+39G>A (n.481+39G>A) c.479+176G>A (n.479+176G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432232G>A | CA2650926662 | ACTA1 | c.616+38C>T (n.616+38C>T) c.481+38C>T (n.481+38C>T) c.479+175C>T (n.479+175C>T) | gnomAD v4 |
1 | g.229432232G>T | CA2698260194 | ACTA1 | c.616+38C>A (n.616+38C>A) c.481+38C>A (n.481+38C>A) c.479+175C>A (n.479+175C>A) | dbSNP |
1 | g.229432235_229432238del | CA2650926661 | ACTA1 | c.616+35_616+38del (n.616+35_616+38del) c.481+35_481+38del (n.481+35_481+38del) c.479+172_479+175del (n.479+172_479+175del) | gnomAD v4 |
1 | g.229432233C>G | CA2574151286 | ACTA1 | c.616+37G>C (n.616+37G>C) c.481+37G>C (n.481+37G>C) c.479+174G>C (n.479+174G>C) | |
1 | g.229432235G>A | CA2841097835 | ACTA1 | c.616+35C>T (n.616+35C>T) c.481+35C>T (n.481+35C>T) c.479+172C>T (n.479+172C>T) | |
1 | g.229432235G>C | CA2650926663 | ACTA1 | c.616+35C>G (n.616+35C>G) c.481+35C>G (n.481+35C>G) c.479+172C>G (n.479+172C>G) | dbSNP gnomAD v4 |
1 | g.229432236G>T | CA2748068668 | ACTA1 | c.616+34C>A (n.616+34C>A) c.481+34C>A (n.481+34C>A) c.479+171C>A (n.479+171C>A) | |
1 | g.229432237C>A | CA2543162194 | ACTA1 | c.616+33G>T (n.616+33G>T) c.481+33G>T (n.481+33G>T) c.479+170G>T (n.479+170G>T) | |
1 | g.229432237C>T | CA2748068669 | ACTA1 | c.616+33G>A (n.616+33G>A) c.481+33G>A (n.481+33G>A) c.479+170G>A (n.479+170G>A) | |
1 | g.229432238C= | CA1226125700 | ACTA1 | c.616+32G= (n.616+32G=) c.481+32G= (n.481+32G=) c.479+169G= (n.479+169G=) | |
1 | g.229432238C>G | CA732580509 | ACTA1 | c.616+32G>C (n.616+32G>C) c.481+32G>C (n.481+32G>C) c.479+169G>C (n.479+169G>C) | dbSNP |
1 | g.229432238C>T | CA2574151287 | ACTA1 | c.616+32G>A (n.616+32G>A) c.481+32G>A (n.481+32G>A) c.479+169G>A (n.479+169G>A) | gnomAD v4 |
1 | g.229432239C= | CA1226125701 | ACTA1 | c.616+31G= (n.616+31G=) c.481+31G= (n.481+31G=) c.479+168G= (n.479+168G=) | |
1 | g.229432239C>T | CA1013145455 | ACTA1 | c.616+31G>A (n.616+31G>A) c.481+31G>A (n.481+31G>A) c.479+168G>A (n.479+168G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432241C= | CA1226125702 | ACTA1 | c.616+29G= (n.616+29G=) c.481+29G= (n.481+29G=) c.479+166G= (n.479+166G=) | |
1 | g.229432241C>G | CA529915272 | ACTA1 | c.616+29G>C (n.616+29G>C) c.481+29G>C (n.481+29G>C) c.479+166G>C (n.479+166G>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432241C>T | CA2650926664 | ACTA1 | c.616+29G>A (n.616+29G>A) c.481+29G>A (n.481+29G>A) c.479+166G>A (n.479+166G>A) | gnomAD v4 |
1 | g.229432242C= | CA1226125703 | ACTA1 | c.616+28G= (n.616+28G=) c.481+28G= (n.481+28G=) c.479+165G= (n.479+165G=) | |
1 | g.229432242C>G | CA2650926665 | ACTA1 | c.616+28G>C (n.616+28G>C) c.481+28G>C (n.481+28G>C) c.479+165G>C (n.479+165G>C) | gnomAD v4 |
1 | g.229432242C>T | CA732580512 | ACTA1 | c.616+28G>A (n.616+28G>A) c.481+28G>A (n.481+28G>A) c.479+165G>A (n.479+165G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432243C>A | CA2650926666 | ACTA1 | c.616+27G>T (n.616+27G>T) c.481+27G>T (n.481+27G>T) c.479+164G>T (n.479+164G>T) | gnomAD v4 |
1 | g.229432243C= | CA1226125704 | ACTA1 | c.616+27G= (n.616+27G=) c.481+27G= (n.481+27G=) c.479+164G= (n.479+164G=) | |
1 | g.229432243C>T | CA529915273 | ACTA1 | c.616+27G>A (n.616+27G>A) c.481+27G>A (n.481+27G>A) c.479+164G>A (n.479+164G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432244G= | CA1226125705 | ACTA1 | c.616+26C= (n.616+26C=) c.481+26C= (n.481+26C=) c.479+163C= (n.479+163C=) | |
1 | g.229432244G>T | CA529915274 | ACTA1 | c.616+26C>A (n.616+26C>A) c.481+26C>A (n.481+26C>A) c.479+163C>A (n.479+163C>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432245C= | CA1226125706 | ACTA1 | c.616+25G= (n.616+25G=) c.481+25G= (n.481+25G=) c.479+162G= (n.479+162G=) | |
1 | g.229432245C>G | CA529915275 | ACTA1 | c.616+25G>C (n.616+25G>C) c.481+25G>C (n.481+25G>C) c.479+162G>C (n.479+162G>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432245C>T | CA1013145463 | ACTA1 | c.616+25G>A (n.616+25G>A) c.481+25G>A (n.481+25G>A) c.479+162G>A (n.479+162G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432246C>G | CA423755285 | ACTA1 | c.616+24G>C (n.616+24G>C) c.481+24G>C (n.481+24G>C) c.479+161G>C (n.479+161G>C) | gnomAD v4 |
1 | g.229432247C>A | CA1442830 | ACTA1 | c.616+23G>T (n.616+23G>T) c.481+23G>T (n.481+23G>T) c.479+160G>T (n.479+160G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229432247C= | CA1226125707 | ACTA1 | c.616+23G= (n.616+23G=) c.481+23G= (n.481+23G=) c.479+160G= (n.479+160G=) | |
1 | g.229432247C>G | CA529915276 | ACTA1 | c.616+23G>C (n.616+23G>C) c.481+23G>C (n.481+23G>C) c.479+160G>C (n.479+160G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432247C>T | CA38815802 | ACTA1 | c.616+23G>A (n.616+23G>A) c.481+23G>A (n.481+23G>A) c.479+160G>A (n.479+160G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432247_229432248delinsCG | CA1226125708 | ACTA1 | c.616+22_616+23delinsCG (n.616+22_616+23delinsCG) c.481+22_481+23delinsCG (n.481+22_481+23delinsCG) c.479+159_479+160delinsCG (n.479+159_479+160delinsCG) | |
1 | g.229432248G>A | CA529915277 | ACTA1 | c.616+22C>T (n.616+22C>T) c.481+22C>T (n.481+22C>T) c.479+159C>T (n.479+159C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432248G= | CA1226125709 | ACTA1 | c.616+22C= (n.616+22C=) c.481+22C= (n.481+22C=) c.479+159C= (n.479+159C=) | |
1 | g.229432248G>T | CA2748068670 | ACTA1 | c.616+22C>A (n.616+22C>A) c.481+22C>A (n.481+22C>A) c.479+159C>A (n.479+159C>A) | |
1 | g.229432251del | CA38815807 | ACTA1 | c.616+22del (n.616+22del) c.481+22del (n.481+22del) c.479+159del (n.479+159del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432249G>A | CA732580526 | ACTA1 | c.616+21C>T (n.616+21C>T) c.481+21C>T (n.481+21C>T) c.479+158C>T (n.479+158C>T) | dbSNP |
1 | g.229432249G>C | CA38815808 | ACTA1 | c.616+21C>G (n.616+21C>G) c.481+21C>G (n.481+21C>G) c.479+158C>G (n.479+158C>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432249G= | CA1145540809 | ACTA1 | c.616+21C= (n.616+21C=) c.481+21C= (n.481+21C=) c.479+158C= (n.479+158C=) | |
1 | g.229432249G>T | CA732580527 | ACTA1 | c.616+21C>A (n.616+21C>A) c.481+21C>A (n.481+21C>A) c.479+158C>A (n.479+158C>A) | dbSNP gnomAD v4 |
1 | g.229432250G>A | CA1442832 | ACTA1 | c.616+20C>T (n.616+20C>T) c.481+20C>T (n.481+20C>T) c.479+157C>T (n.479+157C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432250G= | CA1143435118 | ACTA1 | c.616+20C= (n.616+20C=) c.481+20C= (n.481+20C=) c.479+157C= (n.479+157C=) | |
1 | g.229432250G>T | CA1442831 | ACTA1 | c.616+20C>A (n.616+20C>A) c.481+20C>A (n.481+20C>A) c.479+157C>A (n.479+157C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432251G>A | CA1442834 | ACTA1 | c.616+19C>T (n.616+19C>T) c.481+19C>T (n.481+19C>T) c.479+156C>T (n.479+156C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229432251G= | CA1143985899 | ACTA1 | c.616+19C= (n.616+19C=) c.481+19C= (n.481+19C=) c.479+156C= (n.479+156C=) | |
1 | g.229432251G>T | CA1442833 | ACTA1 | c.616+19C>A (n.616+19C>A) c.481+19C>A (n.481+19C>A) c.479+156C>A (n.479+156C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432252T>A | CA529915278 | ACTA1 | c.616+18A>T (n.616+18A>T) c.481+18A>T (n.481+18A>T) c.479+155A>T (n.479+155A>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432252T= | CA1226125710 | ACTA1 | c.616+18A= (n.616+18A=) c.481+18A= (n.481+18A=) c.479+155A= (n.479+155A=) | |
1 | g.229432253G>A | CA2574151299 | ACTA1 | c.616+17C>T (n.616+17C>T) c.481+17C>T (n.481+17C>T) c.479+154C>T (n.479+154C>T) | |
1 | g.229432254del | CA2698260209 | ACTA1 | c.616+16del (n.616+16del) c.481+16del (n.481+16del) c.479+153del (n.479+153del) | dbSNP |
1 | g.229432255A>C | CA2650926667 | ACTA1 | c.616+15T>G (n.616+15T>G) c.481+15T>G (n.481+15T>G) c.479+152T>G (n.479+152T>G) | gnomAD v4 |
1 | g.229432256G>A | CA529915279 | ACTA1 | c.616+14C>T (n.616+14C>T) c.481+14C>T (n.481+14C>T) c.479+151C>T (n.479+151C>T) | dbSNP gnomAD v2 |
1 | g.229432256G= | CA1226125711 | ACTA1 | c.616+14C= (n.616+14C=) c.481+14C= (n.481+14C=) c.479+151C= (n.479+151C=) | |
1 | g.229432256G>T | CA2838527226 | ACTA1 | c.616+14C>A (n.616+14C>A) c.481+14C>A (n.481+14C>A) c.479+151C>A (n.479+151C>A) | |
1 | g.229432256_229432267del | CA2698260213 | ACTA1 | c.616+3_616+14del (n.616+3_616+14del) c.481+3_481+14del (n.481+3_481+14del) c.479+140_479+151del (n.479+140_479+151del) | dbSNP |
1 | g.229432257G>A | CA1442835 | ACTA1 | c.616+13C>T (n.616+13C>T) c.481+13C>T (n.481+13C>T) c.479+150C>T (n.479+150C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229432257G>C | CA2574151301 | ACTA1 | c.616+13C>G (n.616+13C>G) c.481+13C>G (n.481+13C>G) c.479+150C>G (n.479+150C>G) | |
1 | g.229432257G= | CA1144181480 | ACTA1 | c.616+13C= (n.616+13C=) c.481+13C= (n.481+13C=) c.479+150C= (n.479+150C=) | |
1 | g.229432257G>T | CA2574151303 | ACTA1 | c.616+13C>A (n.616+13C>A) c.481+13C>A (n.481+13C>A) c.479+150C>A (n.479+150C>A) | |
1 | g.229432258G>A | CA529915280 | ACTA1 | c.616+12C>T (n.616+12C>T) c.481+12C>T (n.481+12C>T) c.479+149C>T (n.479+149C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432258G= | CA1226125712 | ACTA1 | c.616+12C= (n.616+12C=) c.481+12C= (n.481+12C=) c.479+149C= (n.479+149C=) | |
1 | g.229432258G>T | CA2574151305 | ACTA1 | c.616+12C>A (n.616+12C>A) c.481+12C>A (n.481+12C>A) c.479+149C>A (n.479+149C>A) | gnomAD v4 |
1 | g.229432259G>A | CA2650926668 | ACTA1 | c.616+11C>T (n.616+11C>T) c.481+11C>T (n.481+11C>T) c.479+148C>T (n.479+148C>T) | gnomAD v4 |
1 | g.229432260C>A | CA1226125714 | ACTA1 | c.616+10G>T (n.616+10G>T) c.481+10G>T (n.481+10G>T) c.479+147G>T (n.479+147G>T) | dbSNP gnomAD v4 |
1 | g.229432260C= | CA1226125713 | ACTA1 | c.616+10G= (n.616+10G=) c.481+10G= (n.481+10G=) c.479+147G= (n.479+147G=) | |
1 | g.229432260C>T | CA2650926669 | ACTA1 | c.616+10G>A (n.616+10G>A) c.481+10G>A (n.481+10G>A) c.479+147G>A (n.479+147G>A) | gnomAD v4 |
1 | g.229432261G>A | CA2650926670 | ACTA1 | c.616+9C>T (n.616+9C>T) c.481+9C>T (n.481+9C>T) c.479+146C>T (n.479+146C>T) | gnomAD v4 |
1 | g.229432261G= | CA1226125715 | ACTA1 | c.616+9C= (n.616+9C=) c.481+9C= (n.481+9C=) c.479+146C= (n.479+146C=) | |
1 | g.229432261G>T | CA1013145475 | ACTA1 | c.616+9C>A (n.616+9C>A) c.481+9C>A (n.481+9C>A) c.479+146C>A (n.479+146C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432263C>A | CA2607340884 | ACTA1 | c.616+7G>T (n.616+7G>T) c.481+7G>T (n.481+7G>T) c.479+144G>T (n.479+144G>T) | gnomAD v3 gnomAD v4 |
1 | g.229432263C= | CA1226125716 | ACTA1 | c.616+7G= (n.616+7G=) c.481+7G= (n.481+7G=) c.479+144G= (n.479+144G=) | |
1 | g.229432263C>G | CA529915281 | ACTA1 | c.616+7G>C (n.616+7G>C) c.481+7G>C (n.481+7G>C) c.479+144G>C (n.479+144G>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432263C>T | CA1442836 | ACTA1 | c.616+7G>A (n.616+7G>A) c.481+7G>A (n.481+7G>A) c.479+144G>A (n.479+144G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432265C= | CA1226125717 | ACTA1 | c.616+5G= (n.616+5G=) c.481+5G= (n.481+5G=) c.479+142G= (n.479+142G=) | |
1 | g.229432265C>T | CA1442837 | ACTA1 | c.616+5G>A (n.616+5G>A) c.481+5G>A (n.481+5G>A) c.479+142G>A (n.479+142G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432266G>A | CA1442839 | ACTA1 | c.616+4C>T (n.616+4C>T) c.481+4C>T (n.481+4C>T) c.479+141C>T (n.479+141C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432266G>C | CA1442838 | ACTA1 | c.616+4C>G (n.616+4C>G) c.481+4C>G (n.481+4C>G) c.479+141C>G (n.479+141C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432266G= | CA1143819804 | ACTA1 | c.616+4C= (n.616+4C=) c.481+4C= (n.481+4C=) c.479+141C= (n.479+141C=) | |
1 | g.229432266G>T | CA38815831 | ACTA1 | c.616+4C>A (n.616+4C>A) c.481+4C>A (n.481+4C>A) c.479+141C>A (n.479+141C>A) | dbSNP |
1 | g.229432268A= | CA1226125718 | ACTA1 | c.616+2T= (n.616+2T=) c.481+2T= (n.481+2T=) c.479+139T= (n.479+139T=) | |
1 | g.229432268A>C | CA345147663 | ACTA1 | c.616+2T>G (n.616+2T>G) c.481+2T>G (n.481+2T>G) c.479+139T>G (n.479+139T>G) | |
1 | g.229432268A>G | CA345147669 | ACTA1 | c.616+2T>C (n.616+2T>C) c.481+2T>C (n.481+2T>C) c.479+139T>C (n.479+139T>C) | ClinVar |
1 | g.229432268A>T | CA345147672 | ACTA1 | c.616+2T>A (n.616+2T>A) c.481+2T>A (n.481+2T>A) c.479+139T>A (n.479+139T>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432269C>A | CA345147676 | ACTA1 | c.616+1G>T (n.616+1G>T) c.481+1G>T (n.481+1G>T) c.479+138G>T (n.479+138G>T) | |
1 | g.229432269C= | CA1141228836 | ACTA1 | c.616+1G= (n.616+1G=) c.481+1G= (n.481+1G=) c.479+138G= (n.479+138G=) | |
1 | g.229432269C>G | CA38815838 | ACTA1 | c.616+1G>C (n.616+1G>C) c.481+1G>C (n.481+1G>C) c.479+138G>C (n.479+138G>C) | dbSNP |
1 | g.229432269C>T | CA38815843 | ACTA1 | c.616+1G>A (n.616+1G>A) c.481+1G>A (n.481+1G>A) c.479+138G>A (n.479+138G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432270C>A | CA345147691 | ACTA1 | c.616G>T (p.Ala206Ser) c.481G>T (p.Ala161Ser) c.479+137G>T (n.479+137G>T) | dbSNP |
1 | g.229432270C= | CA1226125719 | ACTA1 | c.616G= (p.Ala206=) c.481G= (p.Ala161=) c.479+137G= (n.479+137G=) | |
1 | g.229432270C>G | CA345147690 | ACTA1 | c.616G>C (p.Ala206Pro) c.481G>C (p.Ala161Pro) c.479+137G>C (n.479+137G>C) | |
1 | g.229432270C>T | CA16603572 | ACTA1 | c.616G>A (p.Ala206Thr) c.481G>A (p.Ala161Thr) c.479+137G>A (n.479+137G>A) | ClinVar dbSNP |
1 | g.229432271T>A | CA423755292 | ACTA1 | c.615A>T (p.Thr205=) c.480A>T (p.Thr160=) c.479+136A>T (n.479+136A>T) | gnomAD v4 |
1 | g.229432271T>C | CA423755294 | ACTA1 | c.615A>G (p.Thr205=) c.480A>G (p.Thr160=) c.479+136A>G (n.479+136A>G) | dbSNP |
1 | g.229432271T>G | CA423755293 | ACTA1 | c.615A>C (p.Thr205=) c.480A>C (p.Thr160=) c.479+136A>C (n.479+136A>C) | |
1 | g.229432271T= | CA1226125720 | ACTA1 | c.615A= (p.Thr205=) c.480A= (p.Thr160=) c.479+136A= (n.479+136A=) | |
1 | g.229432272G>A | CA345147694 | ACTA1 | c.614C>T (p.Thr205Ile) c.479C>T (p.Thr160Ile) c.479+135C>T (n.479+135C>T) | |
1 | g.229432272G>C | CA345147692 | ACTA1 | c.614C>G (p.Thr205Arg) c.479C>G (p.Thr160Arg) c.479+135C>G (n.479+135C>G) | |
1 | g.229432272G>T | CA345147693 | ACTA1 | c.614C>A (p.Thr205Lys) c.479C>A (p.Thr160Lys) c.479+135C>A (n.479+135C>A) | |
1 | g.229432273T>A | CA345147700 | ACTA1 | c.613A>T (p.Thr205Ser) c.478A>T (p.Thr160Ser) c.479+134A>T (n.479+134A>T) | |
1 | g.229432273T>C | CA345147702 | ACTA1 | c.613A>G (p.Thr205Ala) c.478A>G (p.Thr160Ala) c.479+134A>G (n.479+134A>G) | |
1 | g.229432273T>G | CA345147712 | ACTA1 | c.613A>C (p.Thr205Pro) c.478A>C (p.Thr160Pro) c.479+134A>C (n.479+134A>C) | |
1 | g.229432274G>A | CA423755298 | ACTA1 | c.612C>T (p.Thr204=) c.477C>T (p.Thr159=) c.479+133C>T (n.479+133C>T) | dbSNP gnomAD v4 |
1 | g.229432274G>C | CA423755301 | ACTA1 | c.612C>G (p.Thr204=) c.477C>G (p.Thr159=) c.479+133C>G (n.479+133C>G) | |
1 | g.229432274G= | CA1226125721 | ACTA1 | c.612C= (p.Thr204=) c.477C= (p.Thr159=) c.479+133C= (n.479+133C=) | |
1 | g.229432274G>T | CA423755299 | ACTA1 | c.612C>A (p.Thr204=) c.477C>A (p.Thr159=) c.479+133C>A (n.479+133C>A) | |
1 | g.229432274_229432277del | CA2698260221 | ACTA1 | c.609_612del (p.Thr204GlnfsTer?) c.474_477del (p.Thr159GlnfsTer?) c.479+130_479+133del (n.479+130_479+133del) | dbSNP |
1 | g.229432275G>A | CA345147742 | ACTA1 | c.611C>T (p.Thr204Ile) c.476C>T (p.Thr159Ile) c.479+132C>T (n.479+132C>T) | ClinVar |
1 | g.229432275G>C | CA345147726 | ACTA1 | c.611C>G (p.Thr204Ser) c.476C>G (p.Thr159Ser) c.479+132C>G (n.479+132C>G) | |
1 | g.229432275G>T | CA345147717 | ACTA1 | c.611C>A (p.Thr204Asn) c.476C>A (p.Thr159Asn) c.479+132C>A (n.479+132C>A) | |
1 | g.229432276T>A | CA345147748 | ACTA1 | c.610A>T (p.Thr204Ser) c.475A>T (p.Thr159Ser) c.479+131A>T (n.479+131A>T) | |
1 | g.229432276T>C | CA345147761 | ACTA1 | c.610A>G (p.Thr204Ala) c.475A>G (p.Thr159Ala) c.479+131A>G (n.479+131A>G) | |
1 | g.229432276T>G | CA345147764 | ACTA1 | c.610A>C (p.Thr204Pro) c.475A>C (p.Thr159Pro) c.479+131A>C (n.479+131A>C) | |
1 | g.229432277C>A | CA423755307 | ACTA1 | c.609G>T (p.Val203=) c.474G>T (p.Val158=) c.479+130G>T (n.479+130G>T) | |
1 | g.229432277C>G | CA423755309 | ACTA1 | c.609G>C (p.Val203=) c.474G>C (p.Val158=) c.479+130G>C (n.479+130G>C) | |
1 | g.229432277C>T | CA423755311 | ACTA1 | c.609G>A (p.Val203=) c.474G>A (p.Val158=) c.479+130G>A (n.479+130G>A) | |
1 | g.229432278A= | CA1226125722 | ACTA1 | c.608T= (p.Val203=) c.473T= (p.Val158=) c.479+129T= (n.479+129T=) | |
1 | g.229432278A>C | CA345147768 | ACTA1 | c.608T>G (p.Val203Gly) c.473T>G (p.Val158Gly) c.479+129T>G (n.479+129T>G) | |
1 | g.229432278A>G | CA1442840 | ACTA1 | c.608T>C (p.Val203Ala) c.473T>C (p.Val158Ala) c.479+129T>C (n.479+129T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229432278A>T | CA345147779 | ACTA1 | c.608T>A (p.Val203Glu) c.473T>A (p.Val158Glu) c.479+129T>A (n.479+129T>A) | |
1 | g.229432279C>A | CA345147783 | ACTA1 | c.607G>T (p.Val203Leu) c.472G>T (p.Val158Leu) c.479+128G>T (n.479+128G>T) | |
1 | g.229432279C>G | CA345147793 | ACTA1 | c.607G>C (p.Val203Leu) c.472G>C (p.Val158Leu) c.479+128G>C (n.479+128G>C) | |
1 | g.229432279C>T | CA345147791 | ACTA1 | c.607G>A (p.Val203Met) c.472G>A (p.Val158Met) c.479+128G>A (n.479+128G>A) | gnomAD v4 |
1 | g.229432280G>A | CA423755320 | ACTA1 | c.606C>T (p.Phe202=) c.471C>T (p.Phe157=) c.479+127C>T (n.479+127C>T) | |
1 | g.229432280G>C | CA345147797 | ACTA1 | c.606C>G (p.Phe202Leu) c.471C>G (p.Phe157Leu) c.479+127C>G (n.479+127C>G) | |
1 | g.229432280G= | CA1226125723 | ACTA1 | c.606C= (p.Phe202=) c.471C= (p.Phe157=) c.479+127C= (n.479+127C=) | |
1 | g.229432280G>T | CA345147799 | ACTA1 | c.606C>A (p.Phe202Leu) c.471C>A (p.Phe157Leu) c.479+127C>A (n.479+127C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432280_229432289del | CA2698260228 | ACTA1 | c.597_606del (p.Tyr200Ter) c.462_471del (p.Tyr155Ter) c.479+118_479+127del (n.479+118_479+127del) | dbSNP |
1 | g.229432281A>C | CA345147808 | ACTA1 | c.605T>G (p.Phe202Cys) c.470T>G (p.Phe157Cys) c.479+126T>G (n.479+126T>G) | |
1 | g.229432281A>G | CA345147811 | ACTA1 | c.605T>C (p.Phe202Ser) c.470T>C (p.Phe157Ser) c.479+126T>C (n.479+126T>C) | |
1 | g.229432281A>T | CA345147812 | ACTA1 | c.605T>A (p.Phe202Tyr) c.470T>A (p.Phe157Tyr) c.479+126T>A (n.479+126T>A) | |
1 | g.229432282A>C | CA345147813 | ACTA1 | c.604T>G (p.Phe202Val) c.469T>G (p.Phe157Val) c.479+125T>G (n.479+125T>G) | |
1 | g.229432282A>G | CA345147817 | ACTA1 | c.604T>C (p.Phe202Leu) c.469T>C (p.Phe157Leu) c.479+125T>C (n.479+125T>C) | |
1 | g.229432282A>T | CA345147823 | ACTA1 | c.604T>A (p.Phe202Ile) c.469T>A (p.Phe157Ile) c.479+125T>A (n.479+125T>A) | |
1 | g.229432283G>A | CA423755330 | ACTA1 | c.603C>T (p.Ser201=) c.468C>T (p.Ser156=) c.479+124C>T (n.479+124C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432283G>C | CA423755331 | ACTA1 | c.603C>G (p.Ser201=) c.468C>G (p.Ser156=) c.479+124C>G (n.479+124C>G) | |
1 | g.229432283G= | CA1226125724 | ACTA1 | c.603C= (p.Ser201=) c.468C= (p.Ser156=) c.479+124C= (n.479+124C=) | |
1 | g.229432283G>T | CA423755332 | ACTA1 | c.603C>A (p.Ser201=) c.468C>A (p.Ser156=) c.479+124C>A (n.479+124C>A) | |
1 | g.229432284G>A | CA345147829 | ACTA1 | c.602C>T (p.Ser201Phe) c.467C>T (p.Ser156Phe) c.479+123C>T (n.479+123C>T) | |
1 | g.229432284G>C | CA345147830 | ACTA1 | c.602C>G (p.Ser201Cys) c.467C>G (p.Ser156Cys) c.479+123C>G (n.479+123C>G) | |
1 | g.229432284G>T | CA345147833 | ACTA1 | c.602C>A (p.Ser201Tyr) c.467C>A (p.Ser156Tyr) c.479+123C>A (n.479+123C>A) | |
1 | g.229432285A>C | CA345147849 | ACTA1 | c.601T>G (p.Ser201Ala) c.466T>G (p.Ser156Ala) c.479+122T>G (n.479+122T>G) | |
1 | g.229432285A>G | CA345147853 | ACTA1 | c.601T>C (p.Ser201Pro) c.466T>C (p.Ser156Pro) c.479+122T>C (n.479+122T>C) | |
1 | g.229432285A>T | CA345147846 | ACTA1 | c.601T>A (p.Ser201Thr) c.466T>A (p.Ser156Thr) c.479+122T>A (n.479+122T>A) | |
1 | g.229432286G>A | CA423755337 | ACTA1 | c.600C>T (p.Tyr200=) c.465C>T (p.Tyr155=) c.479+121C>T (n.479+121C>T) | |
1 | g.229432286G>C | CA345147857 | ACTA1 | c.600C>G (p.Tyr200Ter) c.465C>G (p.Tyr155Ter) c.479+121C>G (n.479+121C>G) | |
1 | g.229432286G>T | CA345147863 | ACTA1 | c.600C>A (p.Tyr200Ter) c.465C>A (p.Tyr155Ter) c.479+121C>A (n.479+121C>A) | |
1 | g.229432287T>A | CA345147864 | ACTA1 | c.599A>T (p.Tyr200Phe) c.464A>T (p.Tyr155Phe) c.479+120A>T (n.479+120A>T) | |
1 | g.229432287T>C | CA345147865 | ACTA1 | c.599A>G (p.Tyr200Cys) c.464A>G (p.Tyr155Cys) c.479+120A>G (n.479+120A>G) | ClinVar dbSNP |
1 | g.229432287T>G | CA345147867 | ACTA1 | c.599A>C (p.Tyr200Ser) c.464A>C (p.Tyr155Ser) c.479+120A>C (n.479+120A>C) | |
1 | g.229432288A= | CA1226125725 | ACTA1 | c.598T= (p.Tyr200=) c.463T= (p.Tyr155=) c.479+119T= (n.479+119T=) | |
1 | g.229432288A>C | CA345147869 | ACTA1 | c.598T>G (p.Tyr200Asp) c.463T>G (p.Tyr155Asp) c.479+119T>G (n.479+119T>G) | |
1 | g.229432288A>G | CA345147877 | ACTA1 | c.598T>C (p.Tyr200His) c.463T>C (p.Tyr155His) c.479+119T>C (n.479+119T>C) | |
1 | g.229432288A>T | CA345147880 | ACTA1 | c.598T>A (p.Tyr200Asn) c.463T>A (p.Tyr155Asn) c.479+119T>A (n.479+119T>A) | ClinVar dbSNP |
1 | g.229432289G>A | CA423755344 | ACTA1 | c.597C>T (p.Gly199=) c.462C>T (p.Gly154=) c.479+118C>T (n.479+118C>T) | |
1 | g.229432289G>C | CA423755347 | ACTA1 | c.597C>G (p.Gly199=) c.462C>G (p.Gly154=) c.479+118C>G (n.479+118C>G) | |
1 | g.229432289G= | CA1226125726 | ACTA1 | c.597C= (p.Gly199=) c.462C= (p.Gly154=) c.479+118C= (n.479+118C=) | |
1 | g.229432289G>T | CA423755345 | ACTA1 | c.597C>A (p.Gly199=) c.462C>A (p.Gly154=) c.479+118C>A (n.479+118C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432290C>A | CA345147881 | ACTA1 | c.596G>T (p.Gly199Val) c.461G>T (p.Gly154Val) c.479+117G>T (n.479+117G>T) | |
1 | g.229432290C>G | CA345147882 | ACTA1 | c.596G>C (p.Gly199Ala) c.461G>C (p.Gly154Ala) c.479+117G>C (n.479+117G>C) | |
1 | g.229432290C>T | CA345147885 | ACTA1 | c.596G>A (p.Gly199Asp) c.461G>A (p.Gly154Asp) c.479+117G>A (n.479+117G>A) | |
1 | g.229432291C>A | CA345147889 | ACTA1 | c.595G>T (p.Gly199Cys) c.460G>T (p.Gly154Cys) c.479+116G>T (n.479+116G>T) | |
1 | g.229432291C>G | CA345147892 | ACTA1 | c.595G>C (p.Gly199Arg) c.460G>C (p.Gly154Arg) c.479+116G>C (n.479+116G>C) | |
1 | g.229432291C>T | CA345147893 | ACTA1 | c.595G>A (p.Gly199Ser) c.460G>A (p.Gly154Ser) c.479+116G>A (n.479+116G>A) | |
1 | g.229432292A= | CA1226125727 | ACTA1 | c.594T= (p.Arg198=) c.459T= (p.Arg153=) c.479+115T= (n.479+115T=) | |
1 | g.229432292A>C | CA423755351 | ACTA1 | c.594T>G (p.Arg198=) c.459T>G (p.Arg153=) c.479+115T>G (n.479+115T>G) | |
1 | g.229432292A>G | CA423755352 | ACTA1 | c.594T>C (p.Arg198=) c.459T>C (p.Arg153=) c.479+115T>C (n.479+115T>C) | |
1 | g.229432292A>T | CA423755353 | ACTA1 | c.594T>A (p.Arg198=) c.459T>A (p.Arg153=) c.479+115T>A (n.479+115T>A) | dbSNP |
1 | g.229432293C>A | CA345147899 | ACTA1 | c.593G>T (p.Arg198Leu) c.458G>T (p.Arg153Leu) c.479+114G>T (n.479+114G>T) | |
1 | g.229432293C>G | CA345147894 | ACTA1 | c.593G>C (p.Arg198Pro) c.458G>C (p.Arg153Pro) c.479+114G>C (n.479+114G>C) | |
1 | g.229432293C>T | CA345147895 | ACTA1 | c.593G>A (p.Arg198His) c.458G>A (p.Arg153His) c.479+114G>A (n.479+114G>A) | ClinVar |
1 | g.229432294G>A | CA345147910 | ACTA1 | c.592C>T (p.Arg198Cys) c.457C>T (p.Arg153Cys) c.479+113C>T (n.479+113C>T) | ClinVar dbSNP COSMIC |
1 | g.229432294G>C | CA345147914 | ACTA1 | c.592C>G (p.Arg198Gly) c.457C>G (p.Arg153Gly) c.479+113C>G (n.479+113C>G) | |
1 | g.229432294G= | CA1226125728 | ACTA1 | c.592C= (p.Arg198=) c.457C= (p.Arg153=) c.479+113C= (n.479+113C=) | |
1 | g.229432294G>T | CA345147924 | ACTA1 | c.592C>A (p.Arg198Ser) c.457C>A (p.Arg153Ser) c.479+113C>A (n.479+113C>A) | dbSNP |
1 | g.229432295C>A | CA353465 | ACTA1 | c.591G>T (p.Glu197Asp) c.456G>T (p.Glu152Asp) c.479+112G>T (n.479+112G>T) | ClinVar dbSNP |
1 | g.229432295C= | CA1226125729 | ACTA1 | c.591G= (p.Glu197=) c.456G= (p.Glu152=) c.479+112G= (n.479+112G=) | |
1 | g.229432295C>G | CA345147944 | ACTA1 | c.591G>C (p.Glu197Asp) c.456G>C (p.Glu152Asp) c.479+112G>C (n.479+112G>C) | ClinVar dbSNP |
1 | g.229432295C>T | CA423755361 | ACTA1 | c.591G>A (p.Glu197=) c.456G>A (p.Glu152=) c.479+112G>A (n.479+112G>A) | gnomAD v4 |
1 | g.229432296T>A | CA345147950 | ACTA1 | c.590A>T (p.Glu197Val) c.455A>T (p.Glu152Val) c.479+111A>T (n.479+111A>T) | |
1 | g.229432296T>C | CA345147954 | ACTA1 | c.590A>G (p.Glu197Gly) c.455A>G (p.Glu152Gly) c.479+111A>G (n.479+111A>G) | |
1 | g.229432296T>G | CA345147971 | ACTA1 | c.590A>C (p.Glu197Ala) c.455A>C (p.Glu152Ala) c.479+111A>C (n.479+111A>C) | |
1 | g.229432296_229432305delinsTCAGTGAGGA | CA1226125730 | ACTA1 | c.581_590delinsTCCTCACTGA (p.Ile194=) c.446_455delinsTCCTCACTGA (p.Ile149=) c.479+102_479+111delinsTCCTCACTGA (n.479+102_479+111delinsTCCTCACTGA) | |
1 | g.229432297C>A | CA345147984 | ACTA1 | c.589G>T (p.Glu197Ter) c.454G>T (p.Glu152Ter) c.479+110G>T (n.479+110G>T) | |
1 | g.229432297C>G | CA345147987 | ACTA1 | c.589G>C (p.Glu197Gln) c.454G>C (p.Glu152Gln) c.479+110G>C (n.479+110G>C) | |
1 | g.229432297C>T | CA345147989 | ACTA1 | c.589G>A (p.Glu197Lys) c.454G>A (p.Glu152Lys) c.479+110G>A (n.479+110G>A) | |
1 | g.229432297_229432305del | CA915940831 | ACTA1 | c.581_589del (p.Ile194_Glu197delinsLys) c.446_454del (p.Ile149_Glu152delinsLys) c.479+102_479+110del (n.479+102_479+110del) | ClinVar dbSNP |
1 | g.229432298A= | CA1226125731 | ACTA1 | c.588T= (p.Thr196=) c.453T= (p.Thr151=) c.479+109T= (n.479+109T=) | |
1 | g.229432298A>C | CA423755367 | ACTA1 | c.588T>G (p.Thr196=) c.453T>G (p.Thr151=) c.479+109T>G (n.479+109T>G) | |
1 | g.229432298A>G | CA38815865 | ACTA1 | c.588T>C (p.Thr196=) c.453T>C (p.Thr151=) c.479+109T>C (n.479+109T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432298A>T | CA423755368 | ACTA1 | c.588T>A (p.Thr196=) c.453T>A (p.Thr151=) c.479+109T>A (n.479+109T>A) | dbSNP gnomAD v4 |
1 | g.229432299G>A | CA345148018 | ACTA1 | c.587C>T (p.Thr196Ile) c.452C>T (p.Thr151Ile) c.479+108C>T (n.479+108C>T) | ClinVar dbSNP |
1 | g.229432299G>C | CA345148002 | ACTA1 | c.587C>G (p.Thr196Ser) c.452C>G (p.Thr151Ser) c.479+108C>G (n.479+108C>G) | |
1 | g.229432299G>T | CA345147999 | ACTA1 | c.587C>A (p.Thr196Asn) c.452C>A (p.Thr151Asn) c.479+108C>A (n.479+108C>A) | |
1 | g.229432300T>A | CA345148036 | ACTA1 | c.586A>T (p.Thr196Ser) c.451A>T (p.Thr151Ser) c.479+107A>T (n.479+107A>T) | |
1 | g.229432300T>C | CA345148027 | ACTA1 | c.586A>G (p.Thr196Ala) c.451A>G (p.Thr151Ala) c.479+107A>G (n.479+107A>G) | COSMIC |
1 | g.229432300T>G | CA345148031 | ACTA1 | c.586A>C (p.Thr196Pro) c.451A>C (p.Thr151Pro) c.479+107A>C (n.479+107A>C) | ClinVar |
1 | g.229432301G>A | CA423755373 | ACTA1 | c.585C>T (p.Leu195=) c.450C>T (p.Leu150=) c.479+106C>T (n.479+106C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432301G>C | CA423755370 | ACTA1 | c.585C>G (p.Leu195=) c.450C>G (p.Leu150=) c.479+106C>G (n.479+106C>G) | |
1 | g.229432301G= | CA1226125732 | ACTA1 | c.585C= (p.Leu195=) c.450C= (p.Leu150=) c.479+106C= (n.479+106C=) | |
1 | g.229432301G>T | CA423755371 | ACTA1 | c.585C>A (p.Leu195=) c.450C>A (p.Leu150=) c.479+106C>A (n.479+106C>A) | |
1 | g.229432302A>C | CA345148045 | ACTA1 | c.584T>G (p.Leu195Arg) c.449T>G (p.Leu150Arg) c.479+105T>G (n.479+105T>G) | |
1 | g.229432302A>G | CA345148049 | ACTA1 | c.584T>C (p.Leu195Pro) c.449T>C (p.Leu150Pro) c.479+105T>C (n.479+105T>C) | |
1 | g.229432302A>T | CA345148052 | ACTA1 | c.584T>A (p.Leu195His) c.449T>A (p.Leu150His) c.479+105T>A (n.479+105T>A) |