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.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) | |
1 | g.229432303G>A | CA345148055 | ACTA1 | c.583C>T (p.Leu195Phe) c.448C>T (p.Leu150Phe) c.479+104C>T (n.479+104C>T) | gnomAD v4 |
1 | g.229432303G>C | CA345148056 | ACTA1 | c.583C>G (p.Leu195Val) c.448C>G (p.Leu150Val) c.479+104C>G (n.479+104C>G) | ClinVar dbSNP |
1 | g.229432303G>T | CA345148057 | ACTA1 | c.583C>A (p.Leu195Ile) c.448C>A (p.Leu150Ile) c.479+104C>A (n.479+104C>A) | |
1 | g.229432304del | CA2650926671 | ACTA1 | c.583del (p.Leu195SerfsTer9) c.448del (p.Leu150SerfsTer9) c.479+104del (n.479+104del) | gnomAD v4 |
1 | g.229432304G>A | CA423755379 | ACTA1 | c.582C>T (p.Ile194=) c.447C>T (p.Ile149=) c.479+103C>T (n.479+103C>T) | COSMIC |
1 | g.229432304G>C | CA345148058 | ACTA1 | c.582C>G (p.Ile194Met) c.447C>G (p.Ile149Met) c.479+103C>G (n.479+103C>G) | |
1 | g.229432304G>T | CA423755377 | ACTA1 | c.582C>A (p.Ile194=) c.447C>A (p.Ile149=) c.479+103C>A (n.479+103C>A) | |
1 | g.229432305A>C | CA345148075 | ACTA1 | c.581T>G (p.Ile194Ser) c.446T>G (p.Ile149Ser) c.479+102T>G (n.479+102T>G) | gnomAD v4 |
1 | g.229432305A>G | CA345148090 | ACTA1 | c.581T>C (p.Ile194Thr) c.446T>C (p.Ile149Thr) c.479+102T>C (n.479+102T>C) | gnomAD v4 |
1 | g.229432305A>T | CA345148095 | ACTA1 | c.581T>A (p.Ile194Asn) c.446T>A (p.Ile149Asn) c.479+102T>A (n.479+102T>A) | |
1 | g.229432306T>A | CA345148100 | ACTA1 | c.580A>T (p.Ile194Phe) c.445A>T (p.Ile149Phe) c.479+101A>T (n.479+101A>T) | |
1 | g.229432306T>C | CA345148103 | ACTA1 | c.580A>G (p.Ile194Val) c.445A>G (p.Ile149Val) c.479+101A>G (n.479+101A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432306T>G | CA345148099 | ACTA1 | c.580A>C (p.Ile194Leu) c.445A>C (p.Ile149Leu) c.479+101A>C (n.479+101A>C) | |
1 | g.229432306T= | CA1226125733 | ACTA1 | c.580A= (p.Ile194=) c.445A= (p.Ile149=) c.479+101A= (n.479+101A=) | |
1 | g.229432307_229432308del | CA2650926672 | ACTA1 | c.579_580del (p.Lys193AsnfsTer4) c.444_445del (p.Lys148AsnfsTer4) c.479+100_479+101del (n.479+100_479+101del) | gnomAD v4 |
1 | g.229432307C>A | CA345148108 | ACTA1 | c.579G>T (p.Lys193Asn) c.444G>T (p.Lys148Asn) c.479+100G>T (n.479+100G>T) | |
1 | g.229432307C= | CA1226125734 | ACTA1 | c.579G= (p.Lys193=) c.444G= (p.Lys148=) c.479+100G= (n.479+100G=) | |
1 | g.229432307C>G | CA345148111 | ACTA1 | c.579G>C (p.Lys193Asn) c.444G>C (p.Lys148Asn) c.479+100G>C (n.479+100G>C) | |
1 | g.229432307C>T | CA423755387 | ACTA1 | c.579G>A (p.Lys193=) c.444G>A (p.Lys148=) c.479+100G>A (n.479+100G>A) | dbSNP |
1 | g.229432308T>A | CA345148116 | ACTA1 | c.578A>T (p.Lys193Met) c.443A>T (p.Lys148Met) c.479+99A>T (n.479+99A>T) | |
1 | g.229432308T>C | CA345148124 | ACTA1 | c.578A>G (p.Lys193Arg) c.443A>G (p.Lys148Arg) c.479+99A>G (n.479+99A>G) | |
1 | g.229432308T>G | CA345148127 | ACTA1 | c.578A>C (p.Lys193Thr) c.443A>C (p.Lys148Thr) c.479+99A>C (n.479+99A>C) | |
1 | g.229432308_229432311delinsTTCA | CA1226125735 | ACTA1 | c.575_578delinsTGAA (p.Met192=) c.440_443delinsTGAA (p.Met147=) c.479+96_479+99delinsTGAA (n.479+96_479+99delinsTGAA) | |
1 | g.229432309T>A | CA345148143 | ACTA1 | c.577A>T (p.Lys193Ter) c.442A>T (p.Lys148Ter) c.479+98A>T (n.479+98A>T) | |
1 | g.229432309T>C | CA345148135 | ACTA1 | c.577A>G (p.Lys193Glu) c.442A>G (p.Lys148Glu) c.479+98A>G (n.479+98A>G) | |
1 | g.229432309T>G | CA345148137 | ACTA1 | c.577A>C (p.Lys193Gln) c.442A>C (p.Lys148Gln) c.479+98A>C (n.479+98A>C) | |
1 | g.229432312_229432314del | CA732580649 | ACTA1 | c.575_577del (p.Met192del) c.440_442del (p.Met147del) c.479+96_479+98del (n.479+96_479+98del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432310C>A | CA345148144 | ACTA1 | c.576G>T (p.Met192Ile) c.441G>T (p.Met147Ile) c.479+97G>T (n.479+97G>T) | |
1 | g.229432310C>G | CA345148146 | ACTA1 | c.576G>C (p.Met192Ile) c.441G>C (p.Met147Ile) c.479+97G>C (n.479+97G>C) | |
1 | g.229432310C>T | CA345148149 | ACTA1 | c.576G>A (p.Met192Ile) c.441G>A (p.Met147Ile) c.479+97G>A (n.479+97G>A) | gnomAD v4 |
1 | g.229432311A= | CA1226125736 | ACTA1 | c.575T= (p.Met192=) c.440T= (p.Met147=) c.479+96T= (n.479+96T=) | |
1 | g.229432311A>C | CA345148157 | ACTA1 | c.575T>G (p.Met192Arg) c.440T>G (p.Met147Arg) c.479+96T>G (n.479+96T>G) | |
1 | g.229432311A>G | CA16603576 | ACTA1 | c.575T>C (p.Met192Thr) c.440T>C (p.Met147Thr) c.479+96T>C (n.479+96T>C) | ClinVar dbSNP |
1 | g.229432311A>T | CA345148160 | ACTA1 | c.575T>A (p.Met192Lys) c.440T>A (p.Met147Lys) c.479+96T>A (n.479+96T>A) | gnomAD v4 |
1 | g.229432312del | CA2650926673 | ACTA1 | c.574del (p.Met192Ter) c.439del (p.Met147Ter) c.479+95del (n.479+95del) | gnomAD v4 |
1 | g.229432312T>A | CA345148170 | ACTA1 | c.574A>T (p.Met192Leu) c.439A>T (p.Met147Leu) c.479+95A>T (n.479+95A>T) | |
1 | g.229432312T>C | CA345148174 | ACTA1 | c.574A>G (p.Met192Val) c.439A>G (p.Met147Val) c.479+95A>G (n.479+95A>G) | |
1 | g.229432312T>G | CA345148165 | ACTA1 | c.574A>C (p.Met192Leu) c.439A>C (p.Met147Leu) c.479+95A>C (n.479+95A>C) | |
1 | g.229432313C>A | CA423755392 | ACTA1 | c.573G>T (p.Leu191=) c.438G>T (p.Leu146=) c.479+94G>T (n.479+94G>T) | dbSNP |
1 | g.229432313C= | CA1226125737 | ACTA1 | c.573G= (p.Leu191=) c.438G= (p.Leu146=) c.479+94G= (n.479+94G=) | |
1 | g.229432313C>G | CA423755393 | ACTA1 | c.573G>C (p.Leu191=) c.438G>C (p.Leu146=) c.479+94G>C (n.479+94G>C) | |
1 | g.229432313C>T | CA423755396 | ACTA1 | c.573G>A (p.Leu191=) c.438G>A (p.Leu146=) c.479+94G>A (n.479+94G>A) | gnomAD v4 |
1 | g.229432314A>C | CA345148178 | ACTA1 | c.572T>G (p.Leu191Arg) c.437T>G (p.Leu146Arg) c.479+93T>G (n.479+93T>G) | |
1 | g.229432314A>G | CA345148180 | ACTA1 | c.572T>C (p.Leu191Pro) c.437T>C (p.Leu146Pro) c.479+93T>C (n.479+93T>C) | |
1 | g.229432314A>T | CA345148179 | ACTA1 | c.572T>A (p.Leu191Gln) c.437T>A (p.Leu146Gln) c.479+93T>A (n.479+93T>A) | |
1 | g.229432314_229432315insAT | CA2698260341 | ACTA1 | c.571_572insAT (p.Leu191HisfsTer2) c.436_437insAT (p.Leu146HisfsTer2) c.479+92_479+93insAT (n.479+92_479+93insAT) | dbSNP |
1 | g.229432315G>A | CA423755399 | ACTA1 | c.571C>T (p.Leu191=) c.436C>T (p.Leu146=) c.479+92C>T (n.479+92C>T) | |
1 | g.229432315G>C | CA345148184 | ACTA1 | c.571C>G (p.Leu191Val) c.436C>G (p.Leu146Val) c.479+92C>G (n.479+92C>G) | |
1 | g.229432315G>T | CA345148195 | ACTA1 | c.571C>A (p.Leu191Met) c.436C>A (p.Leu146Met) c.479+92C>A (n.479+92C>A) | |
1 | g.229432316dup | CA2841097836 | ACTA1 | c.571dup (p.Leu191ProfsTer7) c.436dup (p.Leu146ProfsTer7) c.479+92dup (n.479+92dup) | |
1 | g.229432316G>A | CA423755401 | ACTA1 | c.570C>T (p.Tyr190=) c.435C>T (p.Tyr145=) c.479+91C>T (n.479+91C>T) | gnomAD v4 |
1 | g.229432316G>C | CA345148199 | ACTA1 | c.570C>G (p.Tyr190Ter) c.435C>G (p.Tyr145Ter) c.479+91C>G (n.479+91C>G) | |
1 | g.229432316G>T | CA345148200 | ACTA1 | c.570C>A (p.Tyr190Ter) c.435C>A (p.Tyr145Ter) c.479+91C>A (n.479+91C>A) | |
1 | g.229432316_229432317del | CA2698260386 | ACTA1 | c.569_570del (p.Tyr190SerfsTer7) c.434_435del (p.Tyr145SerfsTer7) c.479+90_479+91del (n.479+90_479+91del) | dbSNP |
1 | g.229432317T>A | CA345148202 | ACTA1 | c.569A>T (p.Tyr190Phe) c.434A>T (p.Tyr145Phe) c.479+90A>T (n.479+90A>T) | |
1 | g.229432317T>C | CA345148203 | ACTA1 | c.569A>G (p.Tyr190Cys) c.434A>G (p.Tyr145Cys) c.479+90A>G (n.479+90A>G) | |
1 | g.229432317T>G | CA345148208 | ACTA1 | c.569A>C (p.Tyr190Ser) c.434A>C (p.Tyr145Ser) c.479+90A>C (n.479+90A>C) | |
1 | g.229432318A= | CA1226125738 | ACTA1 | c.568T= (p.Tyr190=) c.433T= (p.Tyr145=) c.479+89T= (n.479+89T=) | |
1 | g.229432318A>C | CA345148224 | ACTA1 | c.568T>G (p.Tyr190Asp) c.433T>G (p.Tyr145Asp) c.479+89T>G (n.479+89T>G) | |
1 | g.229432318A>G | CA345148227 | ACTA1 | c.568T>C (p.Tyr190His) c.433T>C (p.Tyr145His) c.479+89T>C (n.479+89T>C) | dbSNP |
1 | g.229432318A>T | CA345148231 | ACTA1 | c.568T>A (p.Tyr190Asn) c.433T>A (p.Tyr145Asn) c.479+89T>A (n.479+89T>A) | |
1 | g.229432319G>A | CA423755409 | ACTA1 | c.567C>T (p.Asp189=) c.432C>T (p.Asp144=) c.479+88C>T (n.479+88C>T) | dbSNP |
1 | g.229432319G>C | CA345148239 | ACTA1 | c.567C>G (p.Asp189Glu) c.432C>G (p.Asp144Glu) c.479+88C>G (n.479+88C>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432319G= | CA1226125739 | ACTA1 | c.567C= (p.Asp189=) c.432C= (p.Asp144=) c.479+88C= (n.479+88C=) | |
1 | g.229432319G>T | CA345148243 | ACTA1 | c.567C>A (p.Asp189Glu) c.432C>A (p.Asp144Glu) c.479+88C>A (n.479+88C>A) | |
1 | g.229432320T>A | CA345148245 | ACTA1 | c.566A>T (p.Asp189Val) c.431A>T (p.Asp144Val) c.479+87A>T (n.479+87A>T) | |
1 | g.229432320T>C | CA345148250 | ACTA1 | c.566A>G (p.Asp189Gly) c.431A>G (p.Asp144Gly) c.479+87A>G (n.479+87A>G) | gnomAD v4 |
1 | g.229432320T>G | CA345148248 | ACTA1 | c.566A>C (p.Asp189Ala) c.431A>C (p.Asp144Ala) c.479+87A>C (n.479+87A>C) | |
1 | g.229432321C>A | CA345148255 | ACTA1 | c.565G>T (p.Asp189Tyr) c.430G>T (p.Asp144Tyr) c.479+86G>T (n.479+86G>T) | |
1 | g.229432321C>G | CA345148256 | ACTA1 | c.565G>C (p.Asp189His) c.430G>C (p.Asp144His) c.479+86G>C (n.479+86G>C) | |
1 | g.229432321C>T | CA345148257 | ACTA1 | c.565G>A (p.Asp189Asn) c.430G>A (p.Asp144Asn) c.479+86G>A (n.479+86G>A) | |
1 | g.229432322G>A | CA423754948 | ACTA1 | c.564C>T (p.Thr188=) c.429C>T (p.Thr143=) c.479+85C>T (n.479+85C>T) | dbSNP |
1 | g.229432322G>C | CA423754949 | ACTA1 | c.564C>G (p.Thr188=) c.429C>G (p.Thr143=) c.479+85C>G (n.479+85C>G) | |
1 | g.229432322G= | CA1226125740 | ACTA1 | c.564C= (p.Thr188=) c.429C= (p.Thr143=) c.479+85C= (n.479+85C=) | |
1 | g.229432322G>T | CA423754951 | ACTA1 | c.564C>A (p.Thr188=) c.429C>A (p.Thr143=) c.479+85C>A (n.479+85C>A) | gnomAD v4 COSMIC |
1 | g.229432323G>A | CA345148258 | ACTA1 | c.563C>T (p.Thr188Ile) c.428C>T (p.Thr143Ile) c.479+84C>T (n.479+84C>T) | |
1 | g.229432323G>C | CA345148259 | ACTA1 | c.563C>G (p.Thr188Ser) c.428C>G (p.Thr143Ser) c.479+84C>G (n.479+84C>G) | |
1 | g.229432323G>T | CA345148260 | ACTA1 | c.563C>A (p.Thr188Asn) c.428C>A (p.Thr143Asn) c.479+84C>A (n.479+84C>A) | |
1 | g.229432324T>A | CA345148261 | ACTA1 | c.562A>T (p.Thr188Ser) c.427A>T (p.Thr143Ser) c.479+83A>T (n.479+83A>T) | |
1 | g.229432324T>C | CA345148262 | ACTA1 | c.562A>G (p.Thr188Ala) c.427A>G (p.Thr143Ala) c.479+83A>G (n.479+83A>G) | gnomAD v4 |
1 | g.229432324T>G | CA345148263 | ACTA1 | c.562A>C (p.Thr188Pro) c.427A>C (p.Thr143Pro) c.479+83A>C (n.479+83A>C) | |
1 | g.229432325G>A | CA423754955 | ACTA1 | c.561C>T (p.Leu187=) c.426C>T (p.Leu142=) c.479+82C>T (n.479+82C>T) | dbSNP |
1 | g.229432325G>C | CA423754957 | ACTA1 | c.561C>G (p.Leu187=) c.426C>G (p.Leu142=) c.479+82C>G (n.479+82C>G) | |
1 | g.229432325G= | CA1226125741 | ACTA1 | c.561C= (p.Leu187=) c.426C= (p.Leu142=) c.479+82C= (n.479+82C=) | |
1 | g.229432325G>T | CA423754960 | ACTA1 | c.561C>A (p.Leu187=) c.426C>A (p.Leu142=) c.479+82C>A (n.479+82C>A) | dbSNP |
1 | g.229432326A>C | CA345148265 | ACTA1 | c.560T>G (p.Leu187Arg) c.425T>G (p.Leu142Arg) c.479+81T>G (n.479+81T>G) | |
1 | g.229432326A>G | CA345148266 | ACTA1 | c.560T>C (p.Leu187Pro) c.425T>C (p.Leu142Pro) c.479+81T>C (n.479+81T>C) | |
1 | g.229432326A>T | CA345148264 | ACTA1 | c.560T>A (p.Leu187His) c.425T>A (p.Leu142His) c.479+81T>A (n.479+81T>A) | |
1 | g.229432327G>A | CA345148267 | ACTA1 | c.559C>T (p.Leu187Phe) c.424C>T (p.Leu142Phe) c.479+80C>T (n.479+80C>T) | |
1 | g.229432327G>C | CA345148268 | ACTA1 | c.559C>G (p.Leu187Val) c.424C>G (p.Leu142Val) c.479+80C>G (n.479+80C>G) | |
1 | g.229432327G>T | CA345148269 | ACTA1 | c.559C>A (p.Leu187Ile) c.424C>A (p.Leu142Ile) c.479+80C>A (n.479+80C>A) | |
1 | g.229432327_229432328delinsGA | CA1226125742 | ACTA1 | c.558_559delinsTC (p.Asp186=) c.423_424delinsTC (p.Asp141=) c.479+79_479+80delinsTC (n.479+79_479+80delinsTC) |