Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23417449C>A | CA257812078 | MHRT,MYH7 | c.4353+54G>T (n.4353+54G>T) n.813+76C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23417449C= | CA2123468991 | MHRT,MYH7 | c.4353+54G= (n.4353+54G=) n.813+76C= | |
14 | g.23417449C>G | CA2624237751 | MHRT,MYH7 | c.4353+54G>C (n.4353+54G>C) n.813+76C>G | gnomAD v4 |
14 | g.23417449C>T | CA704286763 | MHRT,MYH7 | c.4353+54G>A (n.4353+54G>A) n.813+76C>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.23417450C= | CA2123468997 | MHRT,MYH7 | c.4353+53G= (n.4353+53G=) n.813+77C= | |
14 | g.23417450C>G | CA704286769 | MHRT,MYH7 | c.4353+53G>C (n.4353+53G>C) n.813+77C>G | dbSNP |
14 | g.23417450C>T | CA2575504172 | MHRT,MYH7 | c.4353+53G>A (n.4353+53G>A) n.813+77C>T | gnomAD v4 |
14 | g.23417451C>G | CA2624237760 | MHRT,MYH7 | c.4353+52G>C (n.4353+52G>C) n.813+78C>G | gnomAD v4 |
14 | g.23417452C>T | CA2624237762 | MHRT,MYH7 | c.4353+51G>A (n.4353+51G>A) n.813+79C>T | gnomAD v4 |
14 | g.23417454C>T | CA2800863287 | MHRT,MYH7 | c.4353+49G>A (n.4353+49G>A) n.814-79C>T | |
14 | g.23417457G>A | CA2123469018 | MHRT,MYH7 | c.4353+46C>T (n.4353+46C>T) n.814-76G>A | dbSNP gnomAD v4 |
14 | g.23417457G= | CA2123469021 | MHRT,MYH7 | c.4353+46C= (n.4353+46C=) n.814-76G= | |
14 | g.23417458C= | CA2123469024 | MHRT,MYH7 | c.4353+45G= (n.4353+45G=) n.814-75C= | |
14 | g.23417458C>T | CA257812083 | MHRT,MYH7 | c.4353+45G>A (n.4353+45G>A) n.814-75C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.23417459C>A | CA2624237764 | MHRT,MYH7 | c.4353+44G>T (n.4353+44G>T) n.814-74C>A | gnomAD v4 |
14 | g.23417459C>T | CA2624237765 | MHRT,MYH7 | c.4353+44G>A (n.4353+44G>A) n.814-74C>T | gnomAD v4 |
14 | g.23417460C>A | CA2123469033 | MHRT,MYH7 | c.4353+43G>T (n.4353+43G>T) n.814-73C>A | dbSNP gnomAD v4 |
14 | g.23417460C= | CA2123469032 | MHRT,MYH7 | c.4353+43G= (n.4353+43G=) n.814-73C= | |
14 | g.23417460C>G | CA257812087 | MHRT,MYH7 | c.4353+43G>C (n.4353+43G>C) n.814-73C>G | dbSNP |
14 | g.23417460C>T | CA041848 | MHRT,MYH7 | c.4353+43G>A (n.4353+43G>A) n.814-73C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23417461C>A | CA2581160765 | MHRT,MYH7 | c.4353+42G>T (n.4353+42G>T) n.814-72C>A | |
14 | g.23417461C= | CA2123469041 | MHRT,MYH7 | c.4353+42G= (n.4353+42G=) n.814-72C= | |
14 | g.23417461C>G | CA2581160766 | MHRT,MYH7 | c.4353+42G>C (n.4353+42G>C) n.814-72C>G | |
14 | g.23417461C>T | CA014865 | MHRT,MYH7 | c.4353+42G>A (n.4353+42G>A) n.814-72C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23417462C= | CA2123469044 | MHRT,MYH7 | c.4353+41G= (n.4353+41G=) n.814-71C= | |
14 | g.23417462C>T | CA2123469047 | MHRT,MYH7 | c.4353+41G>A (n.4353+41G>A) n.814-71C>T | dbSNP gnomAD v4 |
14 | g.23417463T>G | CA041833 | MHRT,MYH7 | c.4353+40A>C (n.4353+40A>C) n.814-70T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23417463T= | CA2123469054 | MHRT,MYH7 | c.4353+40A= (n.4353+40A=) n.814-70T= | |
14 | g.23417465G>A | CA613317962 | MHRT,MYH7 | c.4353+38C>T (n.4353+38C>T) n.814-68G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.23417465G= | CA2123469055 | MHRT,MYH7 | c.4353+38C= (n.4353+38C=) n.814-68G= | |
14 | g.23417465G>T | CA613317963 | MHRT,MYH7 | c.4353+38C>A (n.4353+38C>A) n.814-68G>T | dbSNP gnomAD v2 |
14 | g.23417466C>A | CA613317964 | MHRT,MYH7 | c.4353+37G>T (n.4353+37G>T) n.814-67C>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.23417466C= | CA2123469060 | MHRT,MYH7 | c.4353+37G= (n.4353+37G=) n.814-67C= | |
14 | g.23417466C>T | CA704286789 | MHRT,MYH7 | c.4353+37G>A (n.4353+37G>A) n.814-67C>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.23417468C>G | CA2624237807 | MHRT,MYH7 | c.4353+35G>C (n.4353+35G>C) n.814-65C>G | gnomAD v4 |
14 | g.23417468C>T | CA2575504173 | MHRT,MYH7 | c.4353+35G>A (n.4353+35G>A) n.814-65C>T | |
14 | g.23417469T>C | CA2624237809 | MHRT,MYH7 | c.4353+34A>G (n.4353+34A>G) n.814-64T>C | gnomAD v4 |
14 | g.23417470del | CA2624237812 | MHRT,MYH7 | c.4353+33del (n.4353+33del) n.814-63del | gnomAD v4 |
14 | g.23417470G>A | CA2624237815 | MHRT,MYH7 | c.4353+33C>T (n.4353+33C>T) n.814-63G>A | gnomAD v4 |
14 | g.23417471C>A | CA2624237818 | MHRT,MYH7 | c.4353+32G>T (n.4353+32G>T) n.814-62C>A | gnomAD v4 |
14 | g.23417471C>T | CA2575504174 | MHRT,MYH7 | c.4353+32G>A (n.4353+32G>A) n.814-62C>T | gnomAD v4 |
14 | g.23417472A>G | CA2624237830 | MHRT,MYH7 | c.4353+31T>C (n.4353+31T>C) n.814-61A>G | gnomAD v4 |
14 | g.23417473T>G | CA2575504175 | MHRT,MYH7 | c.4353+30A>C (n.4353+30A>C) n.814-60T>G | gnomAD v4 |
14 | g.23417474G>A | CA2624237840 | MHRT,MYH7 | c.4353+29C>T (n.4353+29C>T) n.814-59G>A | gnomAD v4 |
14 | g.23417476_23417485del | CA2580087907 | MHRT,MYH7 | c.4353+20_4353+29del (n.4353+20_4353+29del) n.814-57_814-48del | ClinVar gnomAD v4 |
14 | g.23417475C= | CA2123469065 | MHRT,MYH7 | c.4353+28G= (n.4353+28G=) n.814-58C= | |
14 | g.23417475C>T | CA041800 | MHRT,MYH7 | c.4353+28G>A (n.4353+28G>A) n.814-58C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23417476T>C | CA613317965 | MHRT,MYH7 | c.4353+27A>G (n.4353+27A>G) n.814-57T>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.23417476T>G | CA613317966 | MHRT,MYH7 | c.4353+27A>C (n.4353+27A>C) n.814-57T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23417476T= | CA2123469073 | MHRT,MYH7 | c.4353+27A= (n.4353+27A=) n.814-57T= | |
14 | g.23417477G= | CA2123469080 | MHRT,MYH7 | c.4353+26C= (n.4353+26C=) n.814-56G= | |
14 | g.23417477G>T | CA613317967 | MHRT,MYH7 | c.4353+26C>A (n.4353+26C>A) n.814-56G>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.23417478G>A | CA2123469087 | MHRT,MYH7 | c.4353+25C>T (n.4353+25C>T) n.814-55G>A | dbSNP |
14 | g.23417478G>C | CA2624237855 | MHRT,MYH7 | c.4353+25C>G (n.4353+25C>G) n.814-55G>C | gnomAD v4 |
14 | g.23417478G= | CA2123469085 | MHRT,MYH7 | c.4353+25C= (n.4353+25C=) n.814-55G= | |
14 | g.23417478G>T | CA2624237877 | MHRT,MYH7 | c.4353+25C>A (n.4353+25C>A) n.814-55G>T | gnomAD v4 |
14 | g.23417479C>A | CA2624237905 | MHRT,MYH7 | c.4353+24G>T (n.4353+24G>T) n.814-54C>A | gnomAD v4 |
14 | g.23417479_23417480delinsCT | CA2123469090 | MHRT,MYH7 | c.4353+23_4353+24delinsAG (n.4353+23_4353+24delinsAG) n.814-54_814-53delinsCT | |
14 | g.23417480_23417489del | CA2624237904 | MHRT,MYH7 | c.4353+15_4353+24del (n.4353+15_4353+24del) n.814-53_814-44del | gnomAD v4 |
14 | g.23417480del | CA961069677 | MHRT,MYH7 | c.4353+23del (n.4353+23del) n.814-53del | dbSNP gnomAD v3 gnomAD v4 |
14 | g.23417480T>C | CA041792 | MHRT,MYH7 | c.4353+23A>G (n.4353+23A>G) n.814-53T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23417480T= | CA2123469100 | MHRT,MYH7 | c.4353+23A= (n.4353+23A=) n.814-53T= | |
14 | g.23417481del | CA2624237913 | MHRT,MYH7 | c.4353+22del (n.4353+22del) n.814-52del | gnomAD v4 |
14 | g.23417482C= | CA2123469107 | MHRT,MYH7 | c.4353+21G= (n.4353+21G=) n.814-51C= | |
14 | g.23417482C>G | CA2624237918 | MHRT,MYH7 | c.4353+21G>C (n.4353+21G>C) n.814-51C>G | gnomAD v4 |
14 | g.23417482C>T | CA041780 | MHRT,MYH7 | c.4353+21G>A (n.4353+21G>A) n.814-51C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23417482_23417483delinsCG | CA2123469111 | MHRT,MYH7 | c.4353+20_4353+21delinsCG (n.4353+20_4353+21delinsCG) n.814-51_814-50delinsCG | |
14 | g.23417483G>A | CA041775 | MHRT,MYH7 | c.4353+20C>T (n.4353+20C>T) n.814-50G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.23417483G>C | CA2624237931 | MHRT,MYH7 | c.4353+20C>G (n.4353+20C>G) n.814-50G>C | gnomAD v4 |
14 | g.23417483G= | CA2123469119 | MHRT,MYH7 | c.4353+20C= (n.4353+20C=) n.814-50G= | |
14 | g.23417483G>T | CA2624237934 | MHRT,MYH7 | c.4353+20C>A (n.4353+20C>A) n.814-50G>T | gnomAD v4 |
14 | g.23417484del | CA613317968 | MHRT,MYH7 | c.4353+20del (n.4353+20del) n.814-49del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.23417484G>A | CA613317969 | MHRT,MYH7 | c.4353+19C>T (n.4353+19C>T) n.814-49G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.23417484G= | CA2123469133 | MHRT,MYH7 | c.4353+19C= (n.4353+19C=) n.814-49G= | |
14 | g.23417484G>T | CA041768 | MHRT,MYH7 | c.4353+19C>A (n.4353+19C>A) n.814-49G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23417485C>A | CA2573149777 | MHRT,MYH7 | c.4353+18G>T (n.4353+18G>T) n.814-48C>A | ClinVar dbSNP |
14 | g.23417485C= | CA2123469138 | MHRT,MYH7 | c.4353+18G= (n.4353+18G=) n.814-48C= | |
14 | g.23417485C>G | CA257812140 | MHRT,MYH7 | c.4353+18G>C (n.4353+18G>C) n.814-48C>G | dbSNP |
14 | g.23417485C>T | CA613317970 | MHRT,MYH7 | c.4353+18G>A (n.4353+18G>A) n.814-48C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.23417489del | CA2573149776 | MHRT,MYH7 | c.4353+18del (n.4353+18del) n.814-44del | ClinVar dbSNP |
14 | g.23417486C= | CA2123469154 | MHRT,MYH7 | c.4353+17G= (n.4353+17G=) n.814-47C= | |
14 | g.23417486C>T | CA014857 | MHRT,MYH7 | c.4353+17G>A (n.4353+17G>A) n.814-47C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23417487C>G | CA2624237962 | MHRT,MYH7 | c.4353+16G>C (n.4353+16G>C) n.814-46C>G | gnomAD v4 |
14 | g.23417487C>T | CA2580087908 | MHRT,MYH7 | c.4353+16G>A (n.4353+16G>A) n.814-46C>T | ClinVar |
14 | g.23417489C= | CA2123469158 | MHRT,MYH7 | c.4353+14G= (n.4353+14G=) n.814-44C= | |
14 | g.23417489C>T | CA2123469159 | MHRT,MYH7 | c.4353+14G>A (n.4353+14G>A) n.814-44C>T | dbSNP |
14 | g.23417490A= | CA2123469163 | MHRT,MYH7 | c.4353+13T= (n.4353+13T=) n.814-43A= | |
14 | g.23417490A>C | CA014848 | MHRT,MYH7 | c.4353+13T>G (n.4353+13T>G) n.814-43A>C | ClinVar dbSNP |
14 | g.23417490A>G | CA2123469172 | MHRT,MYH7 | c.4353+13T>C (n.4353+13T>C) n.814-43A>G | dbSNP gnomAD v4 |
14 | g.23417491C>T | CA2580087909 | MHRT,MYH7 | c.4353+12G>A (n.4353+12G>A) n.814-42C>T | ClinVar |
14 | g.23417495_23417501del | CA2800863298 | MHRT,MYH7 | c.4353+6_4353+12del (n.4353+6_4353+12del) n.814-38_814-32del | |
14 | g.23417492C>A | CA041725 | MHRT,MYH7 | c.4353+11G>T (n.4353+11G>T) n.814-41C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23417492C= | CA2123469177 | MHRT,MYH7 | c.4353+11G= (n.4353+11G=) n.814-41C= | |
14 | g.23417493C= | CA2123469187 | MHRT,MYH7 | c.4353+10G= (n.4353+10G=) n.814-40C= | |
14 | g.23417493C>T | CA014842 | MHRT,MYH7 | c.4353+10G>A (n.4353+10G>A) n.814-40C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23417494A>C | CA2499222580 | MHRT,MYH7 | c.4353+9T>G (n.4353+9T>G) n.814-39A>C | ClinVar dbSNP |
14 | g.23417494A>G | CA2575504176 | MHRT,MYH7 | c.4353+9T>C (n.4353+9T>C) n.814-39A>G | |
14 | g.23417495G= | CA2123469194 | MHRT,MYH7 | c.4353+8C= (n.4353+8C=) n.814-38G= | |
14 | g.23417495G>T | CA041893 | MHRT,MYH7 | c.4353+8C>A (n.4353+8C>A) n.814-38G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23417496G>A | CA2624237983 | MHRT,MYH7 | c.4353+7C>T (n.4353+7C>T) n.814-37G>A | ClinVar gnomAD v4 |
14 | g.23417496G>C | CA2624237981 | MHRT,MYH7 | c.4353+7C>G (n.4353+7C>G) n.814-37G>C | gnomAD v4 |
14 | g.23417497G>A | CA041886 | MHRT,MYH7 | c.4353+6C>T (n.4353+6C>T) n.814-36G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23417497G= | CA2123469203 | MHRT,MYH7 | c.4353+6C= (n.4353+6C=) n.814-36G= | |
14 | g.23417497_23417500del | CA2729048594 | MHRT,MYH7 | c.4353+3_4353+6del (n.4353+3_4353+6del) n.814-36_814-33del | dbSNP |
14 | g.23417498C>A | CA041872 | MHRT,MYH7 | c.4353+5G>T (n.4353+5G>T) n.814-35C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23417498C= | CA2123469210 | MHRT,MYH7 | c.4353+5G= (n.4353+5G=) n.814-35C= | |
14 | g.23417498C>T | CA014870 | MHRT,MYH7 | c.4353+5G>A (n.4353+5G>A) n.814-35C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23417499C>A | CA2624237990 | MHRT,MYH7 | c.4353+4G>T (n.4353+4G>T) n.814-34C>A | gnomAD v4 |
14 | g.23417499C>T | CA2624237994 | MHRT,MYH7 | c.4353+4G>A (n.4353+4G>A) n.814-34C>T | gnomAD v4 |
14 | g.23417500C>A | CA041823 | MHRT,MYH7 | c.4353+3G>T (n.4353+3G>T) n.814-33C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23417500C= | CA2123469221 | MHRT,MYH7 | c.4353+3G= (n.4353+3G=) n.814-33C= | |
14 | g.23417500C>T | CA041807 | MHRT,MYH7 | c.4353+3G>A (n.4353+3G>A) n.814-33C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23417501A>C | CA389039967 | MHRT,MYH7 | c.4353+2T>G (n.4353+2T>G) n.814-32A>C | |
14 | g.23417501A>G | CA389039968 | MHRT,MYH7 | c.4353+2T>C (n.4353+2T>C) n.814-32A>G | |
14 | g.23417501A>T | CA389039969 | MHRT,MYH7 | c.4353+2T>A (n.4353+2T>A) n.814-32A>T | |
14 | g.23417502C>A | CA389039971 | MHRT,MYH7 | c.4353+1G>T (n.4353+1G>T) n.814-31C>A | |
14 | g.23417502C= | CA2123469224 | MHRT,MYH7 | c.4353+1G= (n.4353+1G=) n.814-31C= | |
14 | g.23417502C>G | CA389039973 | MHRT,MYH7 | c.4353+1G>C (n.4353+1G>C) n.814-31C>G | |
14 | g.23417502C>T | CA257813140 | MHRT,MYH7 | c.4353+1G>A (n.4353+1G>A) n.814-31C>T | dbSNP |
14 | g.23417503C>A | CA389039975 | MHRT,MYH7 | c.4353G>T (p.Lys1451Asn) n.814-30C>A | |
14 | g.23417503C>G | CA389039976 | MHRT,MYH7 | c.4353G>C (p.Lys1451Asn) n.814-30C>G | |
14 | g.23417503C>T | CA485617721 | MHRT,MYH7 | c.4353G>A (p.Lys1451=) n.814-30C>T | gnomAD v4 |
14 | g.23417504T>A | CA389039979 | MHRT,MYH7 | c.4352A>T (p.Lys1451Met) n.814-29T>A | |
14 | g.23417504T>C | CA389039980 | MHRT,MYH7 | c.4352A>G (p.Lys1451Arg) n.814-29T>C | |
14 | g.23417504T>G | CA389039982 | MHRT,MYH7 | c.4352A>C (p.Lys1451Thr) n.814-29T>G | ClinVar |
14 | g.23417505T>A | CA389039984 | MHRT,MYH7 | c.4351A>T (p.Lys1451Ter) n.814-28T>A | |
14 | g.23417505T>C | CA389039986 | MHRT,MYH7 | c.4351A>G (p.Lys1451Glu) n.814-28T>C | ClinVar |
14 | g.23417505T>G | CA389039987 | MHRT,MYH7 | c.4351A>C (p.Lys1451Gln) n.814-28T>G | |
14 | g.23417506G>A | CA485617725 | MHRT,MYH7 | c.4350C>T (p.Asp1450=) n.814-27G>A | ClinVar dbSNP gnomAD v4 |
14 | g.23417506G>C | CA389039988 | MHRT,MYH7 | c.4350C>G (p.Asp1450Glu) n.814-27G>C | |
14 | g.23417506G= | CA2123469227 | MHRT,MYH7 | c.4350C= (p.Asp1450=) n.814-27G= | |
14 | g.23417506G>T | CA389039990 | MHRT,MYH7 | c.4350C>A (p.Asp1450Glu) n.814-27G>T | |
14 | g.23417507T>A | CA389039992 | MHRT,MYH7 | c.4349A>T (p.Asp1450Val) n.814-26T>A | |
14 | g.23417507T>C | CA389039994 | MHRT,MYH7 | c.4349A>G (p.Asp1450Gly) n.814-26T>C | |
14 | g.23417507T>G | CA389039995 | MHRT,MYH7 | c.4349A>C (p.Asp1450Ala) n.814-26T>G | |
14 | g.23417508C>A | CA389039999 | MHRT,MYH7 | c.4348G>T (p.Asp1450Tyr) n.814-25C>A | |
14 | g.23417508C= | CA2123469235 | MHRT,MYH7 | c.4348G= (p.Asp1450=) n.814-25C= | |
14 | g.23417508C>G | CA389039996 | MHRT,MYH7 | c.4348G>C (p.Asp1450His) n.814-25C>G | gnomAD v4 |
14 | g.23417508C>T | CA014834 | MHRT,MYH7 | c.4348G>A (p.Asp1450Asn) n.814-25C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23417509G>A | CA041696 | MHRT,MYH7 | c.4347C>T (p.Phe1449=) n.814-24G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23417509G>C | CA389040001 | MHRT,MYH7 | c.4347C>G (p.Phe1449Leu) n.814-24G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23417509G= | CA2123469240 | MHRT,MYH7 | c.4347C= (p.Phe1449=) n.814-24G= | |
14 | g.23417509G>T | CA389040002 | MHRT,MYH7 | c.4347C>A (p.Phe1449Leu) n.814-24G>T | |
14 | g.23417510A>C | CA389040003 | MHRT,MYH7 | c.4346T>G (p.Phe1449Cys) n.814-23A>C | |
14 | g.23417510A>G | CA389040005 | MHRT,MYH7 | c.4346T>C (p.Phe1449Ser) n.814-23A>G | |
14 | g.23417510A>T | CA389040006 | MHRT,MYH7 | c.4346T>A (p.Phe1449Tyr) n.814-23A>T | |
14 | g.23417511A>C | CA389040008 | MHRT,MYH7 | c.4345T>G (p.Phe1449Val) n.814-22A>C | |
14 | g.23417511A>G | CA389040009 | MHRT,MYH7 | c.4345T>C (p.Phe1449Leu) n.814-22A>G | |
14 | g.23417511A>T | CA389040011 | MHRT,MYH7 | c.4345T>A (p.Phe1449Ile) n.814-22A>T | |
14 | g.23417512G>A | CA485617730 | MHRT,MYH7 | c.4344C>T (p.Asn1448=) n.814-21G>A | dbSNP |
14 | g.23417512G>C | CA389040012 | MHRT,MYH7 | c.4344C>G (p.Asn1448Lys) n.814-21G>C | |
14 | g.23417512G= | CA2123469250 | MHRT,MYH7 | c.4344C= (p.Asn1448=) n.814-21G= | |
14 | g.23417512G>T | CA389040014 | MHRT,MYH7 | c.4344C>A (p.Asn1448Lys) n.814-21G>T | dbSNP |
14 | g.23417513T>A | CA041680 | MHRT,MYH7 | c.4343A>T (p.Asn1448Ile) n.814-20T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23417513T>C | CA389040018 | MHRT,MYH7 | c.4343A>G (p.Asn1448Ser) n.814-20T>C | ClinVar dbSNP gnomAD v4 |
14 | g.23417513T>G | CA389040016 | MHRT,MYH7 | c.4343A>C (p.Asn1448Thr) n.814-20T>G | |
14 | g.23417513T= | CA2123469261 | MHRT,MYH7 | c.4343A= (p.Asn1448=) n.814-20T= | |
14 | g.23417514T>A | CA389040020 | MHRT,MYH7 | c.4342A>T (p.Asn1448Tyr) n.814-19T>A | |
14 | g.23417514T>C | CA389040023 | MHRT,MYH7 | c.4342A>G (p.Asn1448Asp) n.814-19T>C | |
14 | g.23417514T>G | CA389040021 | MHRT,MYH7 | c.4342A>C (p.Asn1448His) n.814-19T>G | |
14 | g.23417515C>A | CA389040025 | MHRT,MYH7 | c.4341G>T (p.Arg1447Ser) n.814-18C>A | |
14 | g.23417515C= | CA2123469270 | MHRT,MYH7 | c.4341G= (p.Arg1447=) n.814-18C= | |
14 | g.23417515C>G | CA389040027 | MHRT,MYH7 | c.4341G>C (p.Arg1447Ser) n.814-18C>G | |
14 | g.23417515C>T | CA041669 | MHRT,MYH7 | c.4341G>A (p.Arg1447=) n.814-18C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
14 | g.23417516C>A | CA389040029 | MHRT,MYH7 | c.4340G>T (p.Arg1447Met) n.814-17C>A | |
14 | g.23417516C>G | CA389040031 | MHRT,MYH7 | c.4340G>C (p.Arg1447Thr) n.814-17C>G | |
14 | g.23417516C>T | CA389040032 | MHRT,MYH7 | c.4340G>A (p.Arg1447Lys) n.814-17C>T | COSMIC |
14 | g.23417517T>A | CA389040034 | MHRT,MYH7 | c.4339A>T (p.Arg1447Trp) n.814-16T>A | |
14 | g.23417517T>C | CA389040037 | MHRT,MYH7 | c.4339A>G (p.Arg1447Gly) n.814-16T>C | |
14 | g.23417517T>G | CA485617736 | MHRT,MYH7 | c.4339A>C (p.Arg1447=) n.814-16T>G | |
14 | g.23417518C>A | CA389040039 | MHRT,MYH7 | c.4338G>T (p.Gln1446His) n.814-15C>A | |
14 | g.23417518C>G | CA389040041 | MHRT,MYH7 | c.4338G>C (p.Gln1446His) n.814-15C>G | |
14 | g.23417518C>T | CA485617738 | MHRT,MYH7 | c.4338G>A (p.Gln1446=) n.814-15C>T | |
14 | g.23417519T>A | CA389040043 | MHRT,MYH7 | c.4337A>T (p.Gln1446Leu) n.814-14T>A | |
14 | g.23417519T>C | CA389040044 | MHRT,MYH7 | c.4337A>G (p.Gln1446Arg) n.814-14T>C | |
14 | g.23417519T>G | CA389040045 | MHRT,MYH7 | c.4337A>C (p.Gln1446Pro) n.814-14T>G | |
14 | g.23417520G>A | CA389040051 | MHRT,MYH7 | c.4336C>T (p.Gln1446Ter) n.814-13G>A | |
14 | g.23417520G>C | CA389040047 | MHRT,MYH7 | c.4336C>G (p.Gln1446Glu) n.814-13G>C | |
14 | g.23417520G>T | CA389040049 | MHRT,MYH7 | c.4336C>A (p.Gln1446Lys) n.814-13G>T | |
14 | g.23417521C>A | CA389040052 | MHRT,MYH7 | c.4335G>T (p.Lys1445Asn) n.814-12C>A | |
14 | g.23417521C= | CA2123469279 | MHRT,MYH7 | c.4335G= (p.Lys1445=) n.814-12C= | |
14 | g.23417521C>G | CA389040054 | MHRT,MYH7 | c.4335G>C (p.Lys1445Asn) n.814-12C>G | |
14 | g.23417521C>T | CA485617742 | MHRT,MYH7 | c.4335G>A (p.Lys1445=) n.814-12C>T | ClinVar dbSNP gnomAD v4 |
14 | g.23417524_23417526del | CA2580616569 | MHRT,MYH7 | c.4333_4335del (p.Lys1445del) n.814-9_814-7del | ClinVar |
14 | g.23417522T>A | CA389040056 | MHRT,MYH7 | c.4334A>T (p.Lys1445Met) n.814-11T>A | |
14 | g.23417522T>C | CA389040058 | MHRT,MYH7 | c.4334A>G (p.Lys1445Arg) n.814-11T>C | |
14 | g.23417522T>G | CA389040059 | MHRT,MYH7 | c.4334A>C (p.Lys1445Thr) n.814-11T>G | |
14 | g.23417523T>A | CA389040061 | MHRT,MYH7 | c.4333A>T (p.Lys1445Ter) n.814-10T>A | |
14 | g.23417523T>C | CA389040063 | MHRT,MYH7 | c.4333A>G (p.Lys1445Glu) n.814-10T>C | |
14 | g.23417523T>G | CA389040064 | MHRT,MYH7 | c.4333A>C (p.Lys1445Gln) n.814-10T>G | |
14 | g.23417524C>A | CA389040065 | MHRT,MYH7 | c.4332G>T (p.Lys1444Asn) n.814-9C>A | |
14 | g.23417524C= | CA2123469288 | MHRT,MYH7 | c.4332G= (p.Lys1444=) n.814-9C= | |
14 | g.23417524C>G | CA389040066 | MHRT,MYH7 | c.4332G>C (p.Lys1444Asn) n.814-9C>G | |
14 | g.23417524C>T | CA16621654 | MHRT,MYH7 | c.4332G>A (p.Lys1444=) n.814-9C>T | ClinVar dbSNP gnomAD v4 |
14 | g.23417525T>A | CA389040070 | MHRT,MYH7 | c.4331A>T (p.Lys1444Met) n.814-8T>A | |
14 | g.23417525T>C | CA389040071 | MHRT,MYH7 | c.4331A>G (p.Lys1444Arg) n.814-8T>C | |
14 | g.23417525T>G | CA389040068 | MHRT,MYH7 | c.4331A>C (p.Lys1444Thr) n.814-8T>G | |
14 | g.23417526T>A | CA389040073 | MHRT,MYH7 | c.4330A>T (p.Lys1444Ter) n.814-7T>A | |
14 | g.23417526T>C | CA014823 | MHRT,MYH7 | c.4330A>G (p.Lys1444Glu) n.814-7T>C | ClinVar dbSNP |
14 | g.23417526T>G | CA389040074 | MHRT,MYH7 | c.4330A>C (p.Lys1444Gln) n.814-7T>G | |
14 | g.23417526T= | CA2123469308 | MHRT,MYH7 | c.4330A= (p.Lys1444=) n.814-7T= | |
14 | g.23417527G>A | CA485617746 | MHRT,MYH7 | c.4329C>T (p.Asp1443=) n.814-6G>A | |
14 | g.23417527G>C | CA389040076 | MHRT,MYH7 | c.4329C>G (p.Asp1443Glu) n.814-6G>C | gnomAD v4 |
14 | g.23417527G>T | CA389040078 | MHRT,MYH7 | c.4329C>A (p.Asp1443Glu) n.814-6G>T | gnomAD v4 |
14 | g.23417528T>A | CA389040080 | MHRT,MYH7 | c.4328A>T (p.Asp1443Val) n.814-5T>A | |
14 | g.23417528T>C | CA389040081 | MHRT,MYH7 | c.4328A>G (p.Asp1443Gly) n.814-5T>C | |
14 | g.23417528T>G | CA389040083 | MHRT,MYH7 | c.4328A>C (p.Asp1443Ala) n.814-5T>G | |
14 | g.23417529C>A | CA389040084 | MHRT,MYH7 | c.4327G>T (p.Asp1443Tyr) n.814-4C>A | |
14 | g.23417529C>G | CA389040086 | MHRT,MYH7 | c.4327G>C (p.Asp1443His) n.814-4C>G | ClinVar dbSNP gnomAD v4 |
14 | g.23417529C>T | CA389040087 | MHRT,MYH7 | c.4327G>A (p.Asp1443Asn) n.814-4C>T | ClinVar dbSNP gnomAD v4 |
14 | g.23417530C>A | CA485617750 | MHRT,MYH7 | c.4326G>T (p.Leu1442=) n.814-3C>A | |
14 | g.23417530C= | CA2123469319 | MHRT,MYH7 | c.4326G= (p.Leu1442=) n.814-3C= | |
14 | g.23417530C>G | CA485617751 | MHRT,MYH7 | c.4326G>C (p.Leu1442=) n.814-3C>G | ClinVar |
14 | g.23417530C>T | CA014816 | MHRT,MYH7 | c.4326G>A (p.Leu1442=) n.814-3C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23417531A>C | CA389040093 | MHRT,MYH7 | c.4325T>G (p.Leu1442Arg) n.814-2A>C | |
14 | g.23417531A>G | CA389040090 | MHRT,MYH7 | c.4325T>C (p.Leu1442Pro) n.814-2A>G | ClinVar dbSNP |
14 | g.23417531A>T | CA389040092 | MHRT,MYH7 | c.4325T>A (p.Leu1442Gln) n.814-2A>T | |
14 | g.23417532G>A | CA485617755 | MHRT,MYH7 | c.4324C>T (p.Leu1442=) n.814-1G>A | |
14 | g.23417532G>C | CA389040095 | MHRT,MYH7 | c.4324C>G (p.Leu1442Val) n.814-1G>C | |
14 | g.23417532G>T | CA389040097 | MHRT,MYH7 | c.4324C>A (p.Leu1442Met) n.814-1G>T | |
14 | g.23417532_23417534dup | CA2580088005 | MHRT,MYH7 | c.4322_4324dup (p.Ala1441_Leu1442insPro) n.814-1_815dup | ClinVar dbSNP |
14 | g.23417533G>A | CA041640 | MHRT,MYH7 | c.4323C>T (p.Ala1441=) n.814G>A | dbSNP ExAC |
14 | g.23417533G>C | CA485617756 | MHRT,MYH7 | c.4323C>G (p.Ala1441=) n.814G>C | |
14 | g.23417533G= | CA2123469326 | MHRT,MYH7 | c.4323C= (p.Ala1441=) n.814G= | |
14 | g.23417533G>T | CA485617757 | MHRT,MYH7 | c.4323C>A (p.Ala1441=) n.814G>T | ClinVar dbSNP |
14 | g.23417534G>A | CA389040098 | MHRT,MYH7 | c.4322C>T (p.Ala1441Val) n.815G>A | gnomAD v4 |
14 | g.23417534G>C | CA389040099 | MHRT,MYH7 | c.4322C>G (p.Ala1441Gly) n.815G>C | |
14 | g.23417534G>T | CA389040101 | MHRT,MYH7 | c.4322C>A (p.Ala1441Asp) n.815G>T | |
14 | g.23417535C>A | CA014807 | MHRT,MYH7 | c.4321G>T (p.Ala1441Ser) n.816C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23417535C= | CA2123469336 | MHRT,MYH7 | c.4321G= (p.Ala1441=) n.816C= | |
14 | g.23417535C>G | CA389040103 | MHRT,MYH7 | c.4321G>C (p.Ala1441Pro) n.816C>G | |
14 | g.23417535C>T | CA389040105 | MHRT,MYH7 | c.4321G>A (p.Ala1441Thr) n.816C>T | gnomAD v4 |
14 | g.23417536T>A | CA485617759 | MHRT,MYH7 | c.4320A>T (p.Ala1440=) n.817T>A | |
14 | g.23417536T>C | CA041618 | MHRT,MYH7 | c.4320A>G (p.Ala1440=) n.817T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
14 | g.23417536T>G | CA485617762 | MHRT,MYH7 | c.4320A>C (p.Ala1440=) n.817T>G | ClinVar dbSNP |
14 | g.23417536T= | CA2123469339 | MHRT,MYH7 | c.4320A= (p.Ala1440=) n.817T= | |
14 | g.23417537G>A | CA389040107 | MHRT,MYH7 | c.4319C>T (p.Ala1440Val) n.818G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23417537G>C | CA389040109 | MHRT,MYH7 | c.4319C>G (p.Ala1440Gly) n.818G>C | |
14 | g.23417537G= | CA2123469345 | MHRT,MYH7 | c.4319C= (p.Ala1440=) n.818G= | |
14 | g.23417537G>T | CA389040110 | MHRT,MYH7 | c.4319C>A (p.Ala1440Glu) n.818G>T | COSMIC |
14 | g.23417546_23417548dup | CA916081707 | MHRT,MYH7 | c.4317_4319dup (p.Ala1440_Ala1441insAla) n.827_829dup | ClinVar dbSNP |
14 | g.23417538C>A | CA389040114 | MHRT,MYH7 | c.4318G>T (p.Ala1440Ser) n.819C>A | |
14 | g.23417538C>G | CA389040115 | MHRT,MYH7 | c.4318G>C (p.Ala1440Pro) n.819C>G | |
14 | g.23417538C>T | CA389040112 | MHRT,MYH7 | c.4318G>A (p.Ala1440Thr) n.819C>T | |
14 | g.23417539A= | CA2123469351 | MHRT,MYH7 | c.4317T= (p.Ala1439=) n.820A= | |
14 | g.23417539A>C | CA485617764 | MHRT,MYH7 | c.4317T>G (p.Ala1439=) n.820A>C | |
14 | g.23417539A>G | CA485617765 | MHRT,MYH7 | c.4317T>C (p.Ala1439=) n.820A>G | ClinVar dbSNP |
14 | g.23417539A>T | CA485617766 | MHRT,MYH7 | c.4317T>A (p.Ala1439=) n.820A>T | gnomAD v4 COSMIC |
14 | g.23417540G>A | CA389040120 | MHRT,MYH7 | c.4316C>T (p.Ala1439Val) n.821G>A | |
14 | g.23417540G>C | CA389040117 | MHRT,MYH7 | c.4316C>G (p.Ala1439Gly) n.821G>C | |
14 | g.23417540G>T | CA389040118 | MHRT,MYH7 | c.4316C>A (p.Ala1439Asp) n.821G>T | |
14 | g.23417541C>A | CA389040123 | MHRT,MYH7 | c.4315G>T (p.Ala1439Ser) n.822C>A | |
14 | g.23417541C= | CA2123469356 | MHRT,MYH7 | c.4315G= (p.Ala1439=) n.822C= | |
14 | g.23417541C>G | CA347256 | MHRT,MYH7 | c.4315G>C (p.Ala1439Pro) n.822C>G | dbSNP |
14 | g.23417541C>T | CA389040124 | MHRT,MYH7 | c.4315G>A (p.Ala1439Thr) n.822C>T | |
14 | g.23417542A= | CA2123469362 | MHRT,MYH7 | c.4314T= (p.Ala1438=) n.823A= | |
14 | g.23417542A>C | CA485617768 | MHRT,MYH7 | c.4314T>G (p.Ala1438=) n.823A>C | |
14 | g.23417542A>G | CA485617770 | MHRT,MYH7 | c.4314T>C (p.Ala1438=) n.823A>G | ClinVar dbSNP |
14 | g.23417542A>T | CA485617772 | MHRT,MYH7 | c.4314T>A (p.Ala1438=) n.823A>T | |
14 | g.23417543G>A | CA389040129 | MHRT,MYH7 | c.4313C>T (p.Ala1438Val) n.824G>A | gnomAD v4 |
14 | g.23417543G>C | CA389040128 | MHRT,MYH7 | c.4313C>G (p.Ala1438Gly) n.824G>C | |
14 | g.23417543G>T | CA389040126 | MHRT,MYH7 | c.4313C>A (p.Ala1438Asp) n.824G>T | |
14 | g.23417544C>A | CA389040131 | MHRT,MYH7 | c.4312G>T (p.Ala1438Ser) n.825C>A | |
14 | g.23417544C>G | CA389040132 | MHRT,MYH7 | c.4312G>C (p.Ala1438Pro) n.825C>G | ClinVar |
14 | g.23417544C>T | CA389040134 | MHRT,MYH7 | c.4312G>A (p.Ala1438Thr) n.825C>T | |
14 | g.23417545A= | CA2123469373 | MHRT,MYH7 | c.4311T= (p.Ala1437=) n.826A= | |
14 | g.23417545A>C | CA485617774 | MHRT,MYH7 | c.4311T>G (p.Ala1437=) n.826A>C | ClinVar dbSNP |
14 | g.23417545A>G | CA485617775 | MHRT,MYH7 | c.4311T>C (p.Ala1437=) n.826A>G | |
14 | g.23417545A>T | CA485617777 | MHRT,MYH7 | c.4311T>A (p.Ala1437=) n.826A>T | |
14 | g.23417546G>A | CA389040136 | MHRT,MYH7 | c.4310C>T (p.Ala1437Val) n.827G>A | |
14 | g.23417546G>C | CA389040138 | MHRT,MYH7 | c.4310C>G (p.Ala1437Gly) n.827G>C | |
14 | g.23417546G>T | CA389040139 | MHRT,MYH7 | c.4310C>A (p.Ala1437Asp) n.827G>T | |
14 | g.23417547C>A | CA389040140 | MHRT,MYH7 | c.4309G>T (p.Ala1437Ser) n.828C>A | |
14 | g.23417547C>G | CA389040144 | MHRT,MYH7 | c.4309G>C (p.Ala1437Pro) n.828C>G | ClinVar |
14 | g.23417547C>T | CA389040142 | MHRT,MYH7 | c.4309G>A (p.Ala1437Thr) n.828C>T | |
14 | g.23417548A= | CA2123469383 | MHRT,MYH7 | c.4308T= (p.Asn1436=) n.829A= | |
14 | g.23417548A>C | CA389040145 | MHRT,MYH7 | c.4308T>G (p.Asn1436Lys) n.829A>C | |
14 | g.23417548A>G | CA485617779 | MHRT,MYH7 | c.4308T>C (p.Asn1436=) n.829A>G | ClinVar dbSNP |
14 | g.23417548A>T | CA389040147 | MHRT,MYH7 | c.4308T>A (p.Asn1436Lys) n.829A>T |