Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94378639_94379462delinsGCCTGGAGGGGAGAGAAGCAGAGACACGTTGTAAGGCTGATCCCAGGCCTCGAGCAAGGCTCACGTGGACACCTCCCAGGAAGCGCTCACTCCCCCTGGACGGCCCTGGCCCTGCACATCCTCTCCCTCCCTGTCACATAGGCCTTGCTCCTCCTCAAGGCTTTGGCTGATGGGGCTGGCTCCCCTCTGTCCATCTTCCTGACAAGCGCCTCTCCCCCTGCTCAGGTGCACCCACAACTCAGAACAGGGAAGAGCATCGTCACTCCACGTCTGCCTCCAGGGCTCTCTCCTTTCTAGTACACGGCTTGAAGCTCCTTGAGGACACGGACCCTGGCAGTGACCTTCACAGTGCCCAGACCCCAAGATAATGCAGCCATTCATGGAACTGCAGTTGTTCATTGGTCGCCTTTAGTTTTCCAAAATAAGTGTCATCTTTAGCTGAAATCATTCATTAATTCAGACACCAAATCTCACAGATCGAAGGAGTCAGAAATTCCTTTGAAACAACTTAGCCCAAACCTTTCTGTGTCAGTATGGATAAATCAAGGCCCAATGTCTAGAAGGTCTTGGGCAAAGTTGAAATTCAGGGTCAGTGACACAACCTCAAGGGAGGCCCCGAAAGTGCCAGCTGCACAGCAGTCCCCTGCCTGGCTTTGCTGTTTGACCACGTCCCGTGTCAGTGAATCACGGGCATCTTCAGGAGCTCAGCCTGGGTCTTCATTTGTTTCCCTCGGCCCCTTCCTCAGCCTCAGGACAGAGCTGCAGCCCCCACACATTCTTCCCTACAGATACCAGGGTGCAACAAGGTCGTCAGGGTGATCTCA | CA2155953483 | SERPINA1 | c.1065+2_1067delinsTGAGATCACCCTGACGACCTTGTTGCACCCTGGTATCTGTAGGGAAGAATGTGTGGGGGCTGCAGCTCTGTCCTGAGGCTGAGGAAGGGGCCGAGGGAAACAAATGAAGACCCAGGCTGAGCTCCTGAAGATGCCCGTGATTCACTGACACGGGACGTGGTCAAACAGCAAAGCCAGGCAGGGGACTGCTGTGCAGCTGGCACTTTCGGGGCCTCCCTTGAGGTTGTGTCACTGACCCTGAATTTCAACTTTGCCCAAGACCTTCTAGACATTGGGCCTTGATTTATCCATACTGACACAGAAAGGTTTGGGCTAAGTTGTTTCAAAGGAATTTCTGACTCCTTCGATCTGTGAGATTTGGTGTCTGAATTAATGAATGATTTCAGCTAAAGATGACACTTATTTTGGAAAACTAAAGGCGACCAATGAACAACTGCAGTTCCATGAATGGCTGCATTATCTTGGGGTCTGGGCACTGTGAAGGTCACTGCCAGGGTCCGTGTCCTCAAGGAGCTTCAAGCCGTGTACTAGAAAGGAGAGAGCCCTGGAGGCAGACGTGGAGTGACGATGCTCTTCCCTGTTCTGAGTTGTGGGTGCACCTGAGCAGGGGGAGAGGCGCTTGTCAGGAAGATGGACAGAGGGGAGCCAGCCCCATCAGCCAAAGCCTTGAGGAGGAGCAAGGCCTATGTGACAGGGAGGGAGAGGATGTGCAGGGCCAGGGCCGTCCAGGGGGAGTGAGCGCTTCCTGGGAGGTGTCCACGTGAGCCTTGCTCGAGGCCTGGGATCAGCCTTACAACGTGTCTCTGCTTCTCTCCCCTCCAGGC c.*364+2_*366delinsTGAGATCACCCTGACGACCTTGTTGCACCCTGGTATCTGTAGGGAAGAATGTGTGGGGGCTGCAGCTCTGTCCTGAGGCTGAGGAAGGGGCCGAGGGAAACAAATGAAGACCCAGGCTGAGCTCCTGAAGATGCCCGTGATTCACTGACACGGGACGTGGTCAAACAGCAAAGCCAGGCAGGGGACTGCTGTGCAGCTGGCACTTTCGGGGCCTCCCTTGAGGTTGTGTCACTGACCCTGAATTTCAACTTTGCCCAAGACCTTCTAGACATTGGGCCTTGATTTATCCATACTGACACAGAAAGGTTTGGGCTAAGTTGTTTCAAAGGAATTTCTGACTCCTTCGATCTGTGAGATTTGGTGTCTGAATTAATGAATGATTTCAGCTAAAGATGACACTTATTTTGGAAAACTAAAGGCGACCAATGAACAACTGCAGTTCCATGAATGGCTGCATTATCTTGGGGTCTGGGCACTGTGAAGGTCACTGCCAGGGTCCGTGTCCTCAAGGAGCTTCAAGCCGTGTACTAGAAAGGAGAGAGCCCTGGAGGCAGACGTGGAGTGACGATGCTCTTCCCTGTTCTGAGTTGTGGGTGCACCTGAGCAGGGGGAGAGGCGCTTGTCAGGAAGATGGACAGAGGGGAGCCAGCCCCATCAGCCAAAGCCTTGAGGAGGAGCAAGGCCTATGTGACAGGGAGGGAGAGGATGTGCAGGGCCAGGGCCGTCCAGGGGGAGTGAGCGCTTCCTGGGAGGTGTCCACGTGAGCCTTGCTCGAGGCCTGGGATCAGCCTTACAACGTGTCTCTGCTTCTCTCCCCTCCAGGC | |
14 | g.94378643_94379465del | CA658653823 | SERPINA1 | c.1065+2_1066del c.*364+2_*365del | ClinVar dbSNP |
14 | g.94379424C= | CA2155951111 | SERPINA1 | c.1065+40G= (n.1065+40G=) c.*25G= (n.*25G=) c.*364+40G= (n.*364+40G=) | |
14 | g.94379424C>G | CA2155951113 | SERPINA1 | c.1065+40G>C (n.1065+40G>C) c.*25G>C (n.*25G>C) c.*364+40G>C (n.*364+40G>C) | dbSNP |
14 | g.94379424C>T | CA2626280147 | SERPINA1 | c.1065+40G>A (n.1065+40G>A) c.*25G>A (n.*25G>A) c.*364+40G>A (n.*364+40G>A) | gnomAD v4 |
14 | g.94379425A= | CA2155951114 | SERPINA1 | c.1065+39T= (n.1065+39T=) c.*24T= (n.*24T=) c.*364+39T= (n.*364+39T=) | |
14 | g.94379425A>C | CA616114909 | SERPINA1 | c.1065+39T>G (n.1065+39T>G) c.*24T>G (n.*24T>G) c.*364+39T>G (n.*364+39T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94379425A>G | CA2575614293 | SERPINA1 | c.1065+39T>C (n.1065+39T>C) c.*24T>C (n.*24T>C) c.*364+39T>C (n.*364+39T>C) | |
14 | g.94379428T>C | CA616114910 | SERPINA1 | c.1065+36A>G (n.1065+36A>G) c.*21A>G (n.*21A>G) c.*364+36A>G (n.*364+36A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94379428T= | CA2155951116 | SERPINA1 | c.1065+36A= (n.1065+36A=) c.*21A= (n.*21A=) c.*364+36A= (n.*364+36A=) | |
14 | g.94379429A>T | CA2626280149 | SERPINA1 | c.1065+35T>A (n.1065+35T>A) c.*20T>A (n.*20T>A) c.*364+35T>A (n.*364+35T>A) | gnomAD v4 |
14 | g.94379430C>A | CA2626280152 | SERPINA1 | c.1065+34G>T (n.1065+34G>T) c.*19G>T (n.*19G>T) c.*364+34G>T (n.*364+34G>T) | gnomAD v4 |
14 | g.94379430C= | CA2155951118 | SERPINA1 | c.1065+34G= (n.1065+34G=) c.*19G= (n.*19G=) c.*364+34G= (n.*364+34G=) | |
14 | g.94379430C>G | CA616114911 | SERPINA1 | c.1065+34G>C (n.1065+34G>C) c.*19G>C (n.*19G>C) c.*364+34G>C (n.*364+34G>C) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94379430C>T | CA2575614294 | SERPINA1 | c.1065+34G>A (n.1065+34G>A) c.*19G>A (n.*19G>A) c.*364+34G>A (n.*364+34G>A) | gnomAD v4 |
14 | g.94379432A= | CA2155951120 | SERPINA1 | c.1065+32T= (n.1065+32T=) c.*17T= (n.*17T=) c.*364+32T= (n.*364+32T=) | |
14 | g.94379432A>C | CA616114912 | SERPINA1 | c.1065+32T>G (n.1065+32T>G) c.*17T>G (n.*17T>G) c.*364+32T>G (n.*364+32T>G) | dbSNP gnomAD v2 |
14 | g.94379432A>G | CA7327317 | SERPINA1 | c.1065+32T>C (n.1065+32T>C) c.*17T>C (n.*17T>C) c.*364+32T>C (n.*364+32T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94379435_94379445del | CA2626280155 | SERPINA1 | c.1065+22_1065+32del (n.1065+22_1065+32del) c.*7_*17del (n.*7_*17del) c.*364+22_*364+32del (n.*364+22_*364+32del) | gnomAD v4 |
14 | g.94379433G= | CA2155951122 | SERPINA1 | c.1065+31C= (n.1065+31C=) c.*16C= (n.*16C=) c.*364+31C= (n.*364+31C=) | |
14 | g.94379433G>T | CA265860934 | SERPINA1 | c.1065+31C>A (n.1065+31C>A) c.*16C>A (n.*16C>A) c.*364+31C>A (n.*364+31C>A) | dbSNP |
14 | g.94379435G>A | CA7327318 | SERPINA1 | c.1065+29C>T (n.1065+29C>T) c.*14C>T (n.*14C>T) c.*364+29C>T (n.*364+29C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94379435G>C | CA2626280160 | SERPINA1 | c.1065+29C>G (n.1065+29C>G) c.*14C>G (n.*14C>G) c.*364+29C>G (n.*364+29C>G) | gnomAD v4 |
14 | g.94379435G= | CA2155951125 | SERPINA1 | c.1065+29C= (n.1065+29C=) c.*14C= (n.*14C=) c.*364+29C= (n.*364+29C=) | |
14 | g.94379435G>T | CA265860938 | SERPINA1 | c.1065+29C>A (n.1065+29C>A) c.*14C>A (n.*14C>A) c.*364+29C>A (n.*364+29C>A) | dbSNP |
14 | g.94379436T>C | CA710094375 | SERPINA1 | c.1065+28A>G (n.1065+28A>G) c.*13A>G (n.*13A>G) c.*364+28A>G (n.*364+28A>G) | dbSNP gnomAD v4 |
14 | g.94379436T>G | CA616114913 | SERPINA1 | c.1065+28A>C (n.1065+28A>C) c.*13A>C (n.*13A>C) c.*364+28A>C (n.*364+28A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94379436T= | CA2155951128 | SERPINA1 | c.1065+28A= (n.1065+28A=) c.*13A= (n.*13A=) c.*364+28A= (n.*364+28A=) | |
14 | g.94379437G>A | CA265860940 | SERPINA1 | c.1065+27C>T (n.1065+27C>T) c.*12C>T (n.*12C>T) c.*364+27C>T (n.*364+27C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94379437G= | CA2155951135 | SERPINA1 | c.1065+27C= (n.1065+27C=) c.*12C= (n.*12C=) c.*364+27C= (n.*364+27C=) | |
14 | g.94379437G>T | CA2626280164 | SERPINA1 | c.1065+27C>A (n.1065+27C>A) c.*12C>A (n.*12C>A) c.*364+27C>A (n.*364+27C>A) | gnomAD v4 |
14 | g.94379438C= | CA2155951139 | SERPINA1 | c.1065+26G= (n.1065+26G=) c.*11G= (n.*11G=) c.*364+26G= (n.*364+26G=) | |
14 | g.94379438C>T | CA2155951141 | SERPINA1 | c.1065+26G>A (n.1065+26G>A) c.*11G>A (n.*11G>A) c.*364+26G>A (n.*364+26G>A) | dbSNP gnomAD v4 |
14 | g.94379440A= | CA2155951145 | SERPINA1 | c.1065+24T= (n.1065+24T=) c.*9T= (n.*9T=) c.*364+24T= (n.*364+24T=) | |
14 | g.94379440A>G | CA616114914 | SERPINA1 | c.1065+24T>C (n.1065+24T>C) c.*9T>C (n.*9T>C) c.*364+24T>C (n.*364+24T>C) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94379441C= | CA2155951147 | SERPINA1 | c.1065+23G= (n.1065+23G=) c.*8G= (n.*8G=) c.*364+23G= (n.*364+23G=) | |
14 | g.94379441C>T | CA265860942 | SERPINA1 | c.1065+23G>A (n.1065+23G>A) c.*8G>A (n.*8G>A) c.*364+23G>A (n.*364+23G>A) | dbSNP |
14 | g.94379442A= | CA2155951150 | SERPINA1 | c.1065+22T= (n.1065+22T=) c.*7T= (n.*7T=) c.*364+22T= (n.*364+22T=) | |
14 | g.94379442A>C | CA2155951151 | SERPINA1 | c.1065+22T>G (n.1065+22T>G) c.*7T>G (n.*7T>G) c.*364+22T>G (n.*364+22T>G) | dbSNP |
14 | g.94379443A= | CA2155951153 | SERPINA1 | c.1065+21T= (n.1065+21T=) c.*6T= (n.*6T=) c.*364+21T= (n.*364+21T=) | |
14 | g.94379443A>C | CA487621388 | SERPINA1 | c.1065+21T>G (n.1065+21T>G) c.*6T>G (n.*6T>G) c.*364+21T>G (n.*364+21T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94379443A>T | CA616114915 | SERPINA1 | c.1065+21T>A (n.1065+21T>A) c.*6T>A (n.*6T>A) c.*364+21T>A (n.*364+21T>A) | dbSNP gnomAD v2 |
14 | g.94379444G>A | CA2575614295 | SERPINA1 | c.1065+20C>T (n.1065+20C>T) c.*5C>T (n.*5C>T) c.*364+20C>T (n.*364+20C>T) | |
14 | g.94379444G= | CA2155951157 | SERPINA1 | c.1065+20C= (n.1065+20C=) c.*5C= (n.*5C=) c.*364+20C= (n.*364+20C=) | |
14 | g.94379444G>T | CA7327319 | SERPINA1 | c.1065+20C>A (n.1065+20C>A) c.*5C>A (n.*5C>A) c.*364+20C>A (n.*364+20C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94379445G>A | CA710094382 | SERPINA1 | c.1065+19C>T (n.1065+19C>T) c.*4C>T (n.*4C>T) c.*364+19C>T (n.*364+19C>T) | ClinVar dbSNP |
14 | g.94379445G= | CA2155951159 | SERPINA1 | c.1065+19C= (n.1065+19C=) c.*4C= (n.*4C=) c.*364+19C= (n.*364+19C=) | |
14 | g.94379445G>T | CA2155951160 | SERPINA1 | c.1065+19C>A (n.1065+19C>A) c.*4C>A (n.*4C>A) c.*364+19C>A (n.*364+19C>A) | dbSNP gnomAD v4 |
14 | g.94379446T>C | CA2626280173 | SERPINA1 | c.1065+18A>G (n.1065+18A>G) c.*3A>G (n.*3A>G) c.*364+18A>G (n.*364+18A>G) | gnomAD v4 |
14 | g.94379447C= | CA2155951161 | SERPINA1 | c.1065+17G= (n.1065+17G=) c.*2G= (n.*2G=) c.*364+17G= (n.*364+17G=) | |
14 | g.94379447C>T | CA7327320 | SERPINA1 | c.1065+17G>A (n.1065+17G>A) c.*2G>A (n.*2G>A) c.*364+17G>A (n.*364+17G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94379448G>A | CA7327321 | SERPINA1 | c.1065+16C>T (n.1065+16C>T) c.*1C>T (n.*1C>T) c.*364+16C>T (n.*364+16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94379448G= | CA2155951163 | SERPINA1 | c.1065+16C= (n.1065+16C=) c.*1C= (n.*1C=) c.*364+16C= (n.*364+16C=) | |
14 | g.94379448G>T | CA487621389 | SERPINA1 | c.1065+16C>A (n.1065+16C>A) c.*1C>A (n.*1C>A) c.*364+16C>A (n.*364+16C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94379449T>A | CA390847966 | SERPINA1 | c.1065+15A>T (n.1065+15A>T) c.1080A>T (p.Ter360Cys) c.*364+15A>T (n.*364+15A>T) | |
14 | g.94379449T>C | CA390847967 | SERPINA1 | c.1065+15A>G (n.1065+15A>G) c.1080A>G (p.Ter360Trp) c.*364+15A>G (n.*364+15A>G) | |
14 | g.94379449T>G | CA7327322 | SERPINA1 | c.1065+15A>C (n.1065+15A>C) c.1080A>C (p.Ter360Cys) c.*364+15A>C (n.*364+15A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94379449T= | CA2155951167 | SERPINA1 | c.1065+15A= (n.1065+15A=) c.1080A= (p.Ter360=) c.*364+15A= (n.*364+15A=) | |
14 | g.94379450C>A | CA390847968 | SERPINA1 | c.1065+14G>T (n.1065+14G>T) c.1079G>T (p.Ter360Leu) c.*364+14G>T (n.*364+14G>T) | |
14 | g.94379450C= | CA2155951170 | SERPINA1 | c.1065+14G= (n.1065+14G=) c.1079G= (p.Ter360=) c.*364+14G= (n.*364+14G=) | |
14 | g.94379450C>G | CA390847969 | SERPINA1 | c.1065+14G>C (n.1065+14G>C) c.1079G>C (p.Ter360Ser) c.*364+14G>C (n.*364+14G>C) | |
14 | g.94379450C>T | CA616114916 | SERPINA1 | c.1065+14G>A (n.1065+14G>A) c.1079G>A (p.Ter360=) c.*364+14G>A (n.*364+14G>A) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94379451A= | CA2155951172 | SERPINA1 | c.1065+13T= (n.1065+13T=) c.1078T= (p.Ter360=) c.*364+13T= (n.*364+13T=) | |
14 | g.94379451A>C | CA390847970 | SERPINA1 | c.1065+13T>G (n.1065+13T>G) c.1078T>G (p.Ter360Gly) c.*364+13T>G (n.*364+13T>G) | |
14 | g.94379451A>G | CA390847971 | SERPINA1 | c.1065+13T>C (n.1065+13T>C) c.1078T>C (p.Ter360Arg) c.*364+13T>C (n.*364+13T>C) | |
14 | g.94379451A>T | CA265860948 | SERPINA1 | c.1065+13T>A (n.1065+13T>A) c.1078T>A (p.Ter360Arg) c.*364+13T>A (n.*364+13T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94379453G>A | CA390847974 | SERPINA1 | c.1065+11C>T (n.1065+11C>T) c.1076C>T (p.Pro359Leu) c.*364+11C>T (n.*364+11C>T) | dbSNP |
14 | g.94379453G>C | CA390847972 | SERPINA1 | c.1065+11C>G (n.1065+11C>G) c.1076C>G (p.Pro359Arg) c.*364+11C>G (n.*364+11C>G) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94379453G= | CA2155951173 | SERPINA1 | c.1065+11C= (n.1065+11C=) c.1076C= (p.Pro359=) c.*364+11C= (n.*364+11C=) | |
14 | g.94379453G>T | CA390847973 | SERPINA1 | c.1065+11C>A (n.1065+11C>A) c.1076C>A (p.Pro359His) c.*364+11C>A (n.*364+11C>A) | dbSNP |
14 | g.94379454G>A | CA7327323 | SERPINA1 | c.1065+10C>T (n.1065+10C>T) c.1075C>T (p.Pro359Ser) c.*364+10C>T (n.*364+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.94379454G>C | CA390847975 | SERPINA1 | c.1065+10C>G (n.1065+10C>G) c.1075C>G (p.Pro359Ala) c.*364+10C>G (n.*364+10C>G) | |
14 | g.94379454G= | CA2155951175 | SERPINA1 | c.1065+10C= (n.1065+10C=) c.1075C= (p.Pro359=) c.*364+10C= (n.*364+10C=) | |
14 | g.94379454G>T | CA390847976 | SERPINA1 | c.1065+10C>A (n.1065+10C>A) c.1075C>A (p.Pro359Thr) c.*364+10C>A (n.*364+10C>A) | gnomAD v4 |
14 | g.94379455T>C | CA2626280193 | SERPINA1 | c.1065+9A>G (n.1065+9A>G) c.1074A>G (p.Ser358=) c.*364+9A>G (n.*364+9A>G) | gnomAD v4 |
14 | g.94379456G>A | CA390847977 | SERPINA1 | c.1065+8C>T (n.1065+8C>T) c.1073C>T (p.Ser358Leu) c.*364+8C>T (n.*364+8C>T) | |
14 | g.94379456G>C | CA390847978 | SERPINA1 | c.1065+8C>G (n.1065+8C>G) c.1073C>G (p.Ser358Ter) c.*364+8C>G (n.*364+8C>G) | |
14 | g.94379456G>T | CA390847979 | SERPINA1 | c.1065+8C>A (n.1065+8C>A) c.1073C>A (p.Ser358Ter) c.*364+8C>A (n.*364+8C>A) | |
14 | g.94379457A>C | CA390847980 | SERPINA1 | c.1065+7T>G (n.1065+7T>G) c.1072T>G (p.Ser358Ala) c.*364+7T>G (n.*364+7T>G) | |
14 | g.94379457A>G | CA390847981 | SERPINA1 | c.1065+7T>C (n.1065+7T>C) c.1072T>C (p.Ser358Pro) c.*364+7T>C (n.*364+7T>C) | ClinVar dbSNP |
14 | g.94379457A>T | CA390847982 | SERPINA1 | c.1065+7T>A (n.1065+7T>A) c.1072T>A (p.Ser358Thr) c.*364+7T>A (n.*364+7T>A) | gnomAD v4 |
14 | g.94379458T>A | CA7327324 | SERPINA1 | c.1065+6A>T (n.1065+6A>T) c.1071A>T (p.Arg357Ser) c.*364+6A>T (n.*364+6A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94379458T>C | CA14012064 | SERPINA1 | c.1065+6A>G (n.1065+6A>G) c.1071A>G (p.Arg357=) c.*364+6A>G (n.*364+6A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94379458T>G | CA390847983 | SERPINA1 | c.1065+6A>C (n.1065+6A>C) c.1071A>C (p.Arg357Ser) c.*364+6A>C (n.*364+6A>C) | |
14 | g.94379458T= | CA2155951183 | SERPINA1 | c.1065+6A= (n.1065+6A=) c.1071A= (p.Arg357=) c.*364+6A= (n.*364+6A=) | |
14 | g.94379459C>A | CA390847985 | SERPINA1 | c.1065+5G>T (n.1065+5G>T) c.1070G>T (p.Arg357Ile) c.*364+5G>T (n.*364+5G>T) | |
14 | g.94379459C>G | CA390847986 | SERPINA1 | c.1065+5G>C (n.1065+5G>C) c.1070G>C (p.Arg357Thr) c.*364+5G>C (n.*364+5G>C) | |
14 | g.94379459C>T | CA390847984 | SERPINA1 | c.1065+5G>A (n.1065+5G>A) c.1070G>A (p.Arg357Lys) c.*364+5G>A (n.*364+5G>A) | |
14 | g.94379460T>A | CA390847988 | SERPINA1 | c.1065+4A>T (n.1065+4A>T) c.1069A>T (p.Arg357Ter) c.*364+4A>T (n.*364+4A>T) | dbSNP gnomAD v2 |
14 | g.94379460T>C | CA390847987 | SERPINA1 | c.1065+4A>G (n.1065+4A>G) c.1069A>G (p.Arg357Gly) c.*364+4A>G (n.*364+4A>G) | |
14 | g.94379460T= | CA2155951192 | SERPINA1 | c.1065+4A= (n.1065+4A=) c.1069A= (p.Arg357=) c.*364+4A= (n.*364+4A=) | |
14 | g.94379461C>A | CA616114917 | SERPINA1 | c.1065+3G>T (n.1065+3G>T) c.1068G>T (p.Val356=) c.*364+3G>T (n.*364+3G>T) | dbSNP gnomAD v2 |
14 | g.94379461C= | CA2155951196 | SERPINA1 | c.1065+3G= (n.1065+3G=) c.1068G= (p.Val356=) c.*364+3G= (n.*364+3G=) | |
14 | g.94379461C>G | CA2626280197 | SERPINA1 | c.1065+3G>C (n.1065+3G>C) c.1068G>C (p.Val356=) c.*364+3G>C (n.*364+3G>C) | gnomAD v4 |
14 | g.94379461C>T | CA2575614296 | SERPINA1 | c.1065+3G>A (n.1065+3G>A) c.1068G>A (p.Val356=) c.*364+3G>A (n.*364+3G>A) | dbSNP gnomAD v4 |
14 | g.94379462A= | CA2155951199 | SERPINA1 | c.1065+2T= (n.1065+2T=) c.1067T= (p.Val356=) c.*364+2T= (n.*364+2T=) | |
14 | g.94379462A>C | CA390847990 | SERPINA1 | c.1065+2T>G (n.1065+2T>G) c.1067T>G (p.Val356Gly) c.*364+2T>G (n.*364+2T>G) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94379462A>G | CA265860954 | SERPINA1 | c.1065+2T>C (n.1065+2T>C) c.1067T>C (p.Val356Ala) c.*364+2T>C (n.*364+2T>C) | dbSNP |
14 | g.94379462A>T | CA390847989 | SERPINA1 | c.1065+2T>A (n.1065+2T>A) c.1067T>A (p.Val356Glu) c.*364+2T>A (n.*364+2T>A) | |
14 | g.94379463C>A | CA390847991 | SERPINA1 | c.1065+1G>T (n.1065+1G>T) c.1066G>T (p.Val356Leu) c.*364+1G>T (n.*364+1G>T) | gnomAD v4 |
14 | g.94379463C= | CA2155951205 | SERPINA1 | c.1065+1G= (n.1065+1G=) c.1066G= (p.Val356=) c.*364+1G= (n.*364+1G=) | |
14 | g.94379463C>G | CA390847992 | SERPINA1 | c.1065+1G>C (n.1065+1G>C) c.1066G>C (p.Val356Leu) c.*364+1G>C (n.*364+1G>C) | |
14 | g.94379463C>T | CA7327325 | SERPINA1 | c.1065+1G>A (n.1065+1G>A) c.1066G>A (p.Val356Met) c.*364+1G>A (n.*364+1G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
14 | g.94379464C>A | CA390847993 | SERPINA1 | c.1065G>T (p.Lys355Asn) c.*364G>T (n.*364G>T) | |
14 | g.94379464C>G | CA390847994 | SERPINA1 | c.1065G>C (p.Lys355Asn) c.*364G>C (n.*364G>C) | |
14 | g.94379464C>T | CA487621390 | SERPINA1 | c.1065G>A (p.Lys355=) c.*364G>A (n.*364G>A) | gnomAD v4 |
14 | g.94379465T>A | CA390847995 | SERPINA1 | c.1064A>T (p.Lys355Met) c.*363A>T (n.*363A>T) | |
14 | g.94379465T>C | CA350681 | SERPINA1 | c.1064A>G (p.Lys355Arg) c.*363A>G (n.*363A>G) | ClinVar dbSNP gnomAD v4 |
14 | g.94379465T>G | CA390847996 | SERPINA1 | c.1064A>C (p.Lys355Thr) c.*363A>C (n.*363A>C) | |
14 | g.94379465T= | CA2155951211 | SERPINA1 | c.1064A= (p.Lys355=) c.*363A= (n.*363A=) | |
14 | g.94379466T>A | CA390847997 | SERPINA1 | c.1063A>T (p.Lys355Ter) c.*362A>T (n.*362A>T) | |
14 | g.94379466T>C | CA390847998 | SERPINA1 | c.1063A>G (p.Lys355Glu) c.*362A>G (n.*362A>G) | |
14 | g.94379466T>G | CA390847999 | SERPINA1 | c.1063A>C (p.Lys355Gln) c.*362A>C (n.*362A>C) | |
14 | g.94379467G>A | CA487621391 | SERPINA1 | c.1062C>T (p.Ser354=) c.*361C>T (n.*361C>T) | |
14 | g.94379467G>C | CA487621392 | SERPINA1 | c.1062C>G (p.Ser354=) c.*361C>G (n.*361C>G) | |
14 | g.94379467G>T | CA487621393 | SERPINA1 | c.1062C>A (p.Ser354=) c.*361C>A (n.*361C>A) | |
14 | g.94379468G>A | CA245086 | SERPINA1 | c.1061C>T (p.Ser354Phe) c.*360C>T (n.*360C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.94379468G>C | CA390848000 | SERPINA1 | c.1061C>G (p.Ser354Cys) c.*360C>G (n.*360C>G) | gnomAD v4 |
14 | g.94379468G= | CA2155951214 | SERPINA1 | c.1061C= (p.Ser354=) c.*360C= (n.*360C=) | |
14 | g.94379468G>T | CA390848001 | SERPINA1 | c.1061C>A (p.Ser354Tyr) c.*360C>A (n.*360C>A) | |
14 | g.94379469A>C | CA390848002 | SERPINA1 | c.1060T>G (p.Ser354Ala) c.*359T>G (n.*359T>G) | |
14 | g.94379469A>G | CA390848003 | SERPINA1 | c.1060T>C (p.Ser354Pro) c.*359T>C (n.*359T>C) | |
14 | g.94379469A>T | CA390848004 | SERPINA1 | c.1060T>A (p.Ser354Thr) c.*359T>A (n.*359T>A) | |
14 | g.94379470G>A | CA487621396 | SERPINA1 | c.1059C>T (p.Leu353=) c.*358C>T (n.*358C>T) | |
14 | g.94379470G>C | CA487621394 | SERPINA1 | c.1059C>G (p.Leu353=) c.*358C>G (n.*358C>G) | gnomAD v4 |
14 | g.94379470G>T | CA487621395 | SERPINA1 | c.1059C>A (p.Leu353=) c.*358C>A (n.*358C>A) | gnomAD v4 |
14 | g.94379471A>C | CA390848005 | SERPINA1 | c.1058T>G (p.Leu353Arg) c.*357T>G (n.*357T>G) | |
14 | g.94379471A>G | CA390848006 | SERPINA1 | c.1058T>C (p.Leu353Pro) c.*357T>C (n.*357T>C) | |
14 | g.94379471A>T | CA390848007 | SERPINA1 | c.1058T>A (p.Leu353His) c.*357T>A (n.*357T>A) | |
14 | g.94379472G>A | CA265860960 | SERPINA1 | c.1057C>T (p.Leu353Phe) c.*356C>T (n.*356C>T) | dbSNP gnomAD v4 |
14 | g.94379472G>C | CA390848008 | SERPINA1 | c.1057C>G (p.Leu353Val) c.*356C>G (n.*356C>G) | gnomAD v4 |
14 | g.94379472G= | CA2155951218 | SERPINA1 | c.1057C= (p.Leu353=) c.*356C= (n.*356C=) | |
14 | g.94379472G>T | CA390848009 | SERPINA1 | c.1057C>A (p.Leu353Ile) c.*356C>A (n.*356C>A) | gnomAD v4 |
14 | g.94379473C>A | CA390848010 | SERPINA1 | c.1056G>T (p.Lys352Asn) c.*355G>T (n.*355G>T) | |
14 | g.94379473C>G | CA390848011 | SERPINA1 | c.1056G>C (p.Lys352Asn) c.*355G>C (n.*355G>C) | |
14 | g.94379473C>T | CA487621397 | SERPINA1 | c.1056G>A (p.Lys352=) c.*355G>A (n.*355G>A) | gnomAD v3 gnomAD v4 |
14 | g.94379474T>A | CA390848014 | SERPINA1 | c.1055A>T (p.Lys352Met) c.*354A>T (n.*354A>T) | |
14 | g.94379474T>C | CA390848013 | SERPINA1 | c.1055A>G (p.Lys352Arg) c.*354A>G (n.*354A>G) | |
14 | g.94379474T>G | CA390848012 | SERPINA1 | c.1055A>C (p.Lys352Thr) c.*354A>C (n.*354A>C) | |
14 | g.94379475T>A | CA390848015 | SERPINA1 | c.1054A>T (p.Lys352Ter) c.*353A>T (n.*353A>T) | |
14 | g.94379475T>C | CA390848016 | SERPINA1 | c.1054A>G (p.Lys352Glu) c.*353A>G (n.*353A>G) | |
14 | g.94379475T>G | CA390848017 | SERPINA1 | c.1054A>C (p.Lys352Gln) c.*353A>C (n.*353A>C) | |
14 | g.94379476C>A | CA487621398 | SERPINA1 | c.1053G>T (p.Leu351=) c.*352G>T (n.*352G>T) | |
14 | g.94379476C>G | CA487621400 | SERPINA1 | c.1053G>C (p.Leu351=) c.*352G>C (n.*352G>C) | |
14 | g.94379476C>T | CA487621399 | SERPINA1 | c.1053G>A (p.Leu351=) c.*352G>A (n.*352G>A) | |
14 | g.94379476_94379477delinsCA | CA2155951221 | SERPINA1 | c.1052_1053delinsTG (p.Leu351=) c.*351_*352delinsTG (n.*351_*352delinsTG) | |
14 | g.94379477del | CA265860962 | SERPINA1 | c.1052del (p.Leu351ArgfsTer12) c.1052del (p.Leu351ArgfsTer6) c.*351del (n.*351del) | ClinVar dbSNP |
14 | g.94379477A= | CA2155951223 | SERPINA1 | c.1052T= (p.Leu351=) c.*351T= (n.*351T=) | |
14 | g.94379477A>C | CA390848018 | SERPINA1 | c.1052T>G (p.Leu351Arg) c.*351T>G (n.*351T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94379477A>G | CA390848019 | SERPINA1 | c.1052T>C (p.Leu351Pro) c.*351T>C (n.*351T>C) | |
14 | g.94379477A>T | CA390848020 | SERPINA1 | c.1052T>A (p.Leu351Gln) c.*351T>A (n.*351T>A) | |
14 | g.94379478G>A | CA487621401 | SERPINA1 | c.1051C>T (p.Leu351=) c.*350C>T (n.*350C>T) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94379478G>C | CA390848021 | SERPINA1 | c.1051C>G (p.Leu351Val) c.*350C>G (n.*350C>G) | dbSNP |
14 | g.94379478G= | CA2155951225 | SERPINA1 | c.1051C= (p.Leu351=) c.*350C= (n.*350C=) | |
14 | g.94379478G>T | CA390848022 | SERPINA1 | c.1051C>A (p.Leu351Met) c.*350C>A (n.*350C>A) | dbSNP gnomAD v2 |
14 | g.94379479G>A | CA487621402 | SERPINA1 | c.1050C>T (p.Pro350=) c.*349C>T (n.*349C>T) | COSMIC |
14 | g.94379479G>C | CA487621403 | SERPINA1 | c.1050C>G (p.Pro350=) c.*349C>G (n.*349C>G) | ClinVar dbSNP gnomAD v4 |
14 | g.94379479G>T | CA487621404 | SERPINA1 | c.1050C>A (p.Pro350=) c.*349C>A (n.*349C>A) | |
14 | g.94379480G>A | CA7327326 | SERPINA1 | c.1049C>T (p.Pro350Leu) c.*348C>T (n.*348C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94379480G>C | CA390848023 | SERPINA1 | c.1049C>G (p.Pro350Arg) c.*348C>G (n.*348C>G) | |
14 | g.94379480G= | CA2155951227 | SERPINA1 | c.1049C= (p.Pro350=) c.*348C= (n.*348C=) | |
14 | g.94379480G>T | CA390848024 | SERPINA1 | c.1049C>A (p.Pro350His) c.*348C>A (n.*348C>A) | |
14 | g.94379481G>A | CA7327327 | SERPINA1 | c.1048C>T (p.Pro350Ser) c.*347C>T (n.*347C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94379481G>C | CA390848026 | SERPINA1 | c.1048C>G (p.Pro350Ala) c.*347C>G (n.*347C>G) | |
14 | g.94379481G= | CA2155951232 | SERPINA1 | c.1048C= (p.Pro350=) c.*347C= (n.*347C=) | |
14 | g.94379481G>T | CA390848025 | SERPINA1 | c.1048C>A (p.Pro350Thr) c.*347C>A (n.*347C>A) | dbSNP |
14 | g.94379482T>A | CA487621405 | SERPINA1 | c.1047A>T (p.Ala349=) c.*346A>T (n.*346A>T) | |
14 | g.94379482T>C | CA487621406 | SERPINA1 | c.1047A>G (p.Ala349=) c.*346A>G (n.*346A>G) | ClinVar dbSNP |
14 | g.94379482T>G | CA487621407 | SERPINA1 | c.1047A>C (p.Ala349=) c.*346A>C (n.*346A>C) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94379482T= | CA2155951237 | SERPINA1 | c.1047A= (p.Ala349=) c.*346A= (n.*346A=) | |
14 | g.94379483G>A | CA390848027 | SERPINA1 | c.1046C>T (p.Ala349Val) c.*345C>T (n.*345C>T) | |
14 | g.94379483G>C | CA390848028 | SERPINA1 | c.1046C>G (p.Ala349Gly) c.*345C>G (n.*345C>G) | |
14 | g.94379483G>T | CA390848029 | SERPINA1 | c.1046C>A (p.Ala349Glu) c.*345C>A (n.*345C>A) | |
14 | g.94379484C>A | CA390848030 | SERPINA1 | c.1045G>T (p.Ala349Ser) c.*344G>T (n.*344G>T) | |
14 | g.94379484C= | CA2155951242 | SERPINA1 | c.1045G= (p.Ala349=) c.*344G= (n.*344G=) | |
14 | g.94379484C>G | CA265860963 | SERPINA1 | c.1045G>C (p.Ala349Pro) c.*344G>C (n.*344G>C) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94379484C>T | CA390848031 | SERPINA1 | c.1045G>A (p.Ala349Thr) c.*344G>A (n.*344G>A) | |
14 | g.94379485C>A | CA390848032 | SERPINA1 | c.1044G>T (p.Glu348Asp) c.*343G>T (n.*343G>T) | |
14 | g.94379485C>G | CA390848033 | SERPINA1 | c.1044G>C (p.Glu348Asp) c.*343G>C (n.*343G>C) | |
14 | g.94379485C>T | CA487621408 | SERPINA1 | c.1044G>A (p.Glu348=) c.*343G>A (n.*343G>A) | gnomAD v4 |
14 | g.94379486T>A | CA390848034 | SERPINA1 | c.1043A>T (p.Glu348Val) c.*342A>T (n.*342A>T) | |
14 | g.94379486T>C | CA390848035 | SERPINA1 | c.1043A>G (p.Glu348Gly) c.*342A>G (n.*342A>G) | |
14 | g.94379486T>G | CA390848036 | SERPINA1 | c.1043A>C (p.Glu348Ala) c.*342A>C (n.*342A>C) | |
14 | g.94379487C>A | CA390848037 | SERPINA1 | c.1042G>T (p.Glu348Ter) c.*341G>T (n.*341G>T) | |
14 | g.94379487C>G | CA390848038 | SERPINA1 | c.1042G>C (p.Glu348Gln) c.*341G>C (n.*341G>C) | |
14 | g.94379487C>T | CA390848039 | SERPINA1 | c.1042G>A (p.Glu348Lys) c.*341G>A (n.*341G>A) | |
14 | g.94379487_94379489delinsCCT | CA2155951246 | SERPINA1 | c.1040_1042delinsAGG (p.Glu347=) c.*339_*341delinsAGG (n.*339_*341delinsAGG) | |
14 | g.94379488C>A | CA390848040 | SERPINA1 | c.1041G>T (p.Glu347Asp) c.*340G>T (n.*340G>T) | gnomAD v4 |
14 | g.94379488C= | CA2155951249 | SERPINA1 | c.1041G= (p.Glu347=) c.*340G= (n.*340G=) | |
14 | g.94379488C>G | CA390848041 | SERPINA1 | c.1041G>C (p.Glu347Asp) c.*340G>C (n.*340G>C) | |
14 | g.94379488C>T | CA265860964 | SERPINA1 | c.1041G>A (p.Glu347=) c.*340G>A (n.*340G>A) | dbSNP |
14 | g.94379490_94379491del | CA487621410 | SERPINA1 | c.1040_1041del (p.Glu347GlyfsTer12) c.1040_1041del (p.Glu347GlyfsTer?) c.*339_*340del (n.*339_*340del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94379489T>A | CA390848042 | SERPINA1 | c.1040A>T (p.Glu347Val) c.*339A>T (n.*339A>T) | |
14 | g.94379489T>C | CA390848043 | SERPINA1 | c.1040A>G (p.Glu347Gly) c.*339A>G (n.*339A>G) | |
14 | g.94379489T>G | CA265860965 | SERPINA1 | c.1040A>C (p.Glu347Ala) c.*339A>C (n.*339A>C) | dbSNP |
14 | g.94379489T= | CA2155951254 | SERPINA1 | c.1040A= (p.Glu347=) c.*339A= (n.*339A=) | |
14 | g.94379490C>A | CA390848044 | SERPINA1 | c.1039G>T (p.Glu347Ter) c.*338G>T (n.*338G>T) | |
14 | g.94379490C= | CA2155951256 | SERPINA1 | c.1039G= (p.Glu347=) c.*338G= (n.*338G=) | |
14 | g.94379490C>G | CA265860966 | SERPINA1 | c.1039G>C (p.Glu347Gln) c.*338G>C (n.*338G>C) | dbSNP |
14 | g.94379490C>T | CA390848045 | SERPINA1 | c.1039G>A (p.Glu347Lys) c.*338G>A (n.*338G>A) | gnomAD v4 |
14 | g.94379491T>A | CA265860967 | SERPINA1 | c.1038A>T (p.Thr346=) c.*337A>T (n.*337A>T) | dbSNP |
14 | g.94379491T>C | CA487621412 | SERPINA1 | c.1038A>G (p.Thr346=) c.*337A>G (n.*337A>G) | |
14 | g.94379491T>G | CA487621413 | SERPINA1 | c.1038A>C (p.Thr346=) c.*337A>C (n.*337A>C) | |
14 | g.94379491T= | CA2155951259 | SERPINA1 | c.1038A= (p.Thr346=) c.*337A= (n.*337A=) | |
14 | g.94379493_94379494del | CA2626280214 | SERPINA1 | c.1037_1038del (p.Thr346ArgfsTer13) c.1037_1038del (p.Thr346ArgfsTer?) c.*336_*337del (n.*336_*337del) | gnomAD v4 |
14 | g.94379491_94379492insTTTTTAATGATACG | CA966133149 | SERPINA1 | c.1037_1038insCGTATCATTAAAAA (p.Glu347ValfsTer10) c.*336_*337insCGTATCATTAAAAA (n.*336_*337insCGTATCATTAAAAA) | gnomAD v3 gnomAD v4 |
14 | g.94379492G>A | CA390848046 | SERPINA1 | c.1037C>T (p.Thr346Ile) c.*336C>T (n.*336C>T) | |
14 | g.94379492G>C | CA265860968 | SERPINA1 | c.1037C>G (p.Thr346Arg) c.*336C>G (n.*336C>G) | dbSNP |
14 | g.94379492G= | CA2155951261 | SERPINA1 | c.1037C= (p.Thr346=) c.*336C= (n.*336C=) | |
14 | g.94379492G>T | CA390848047 | SERPINA1 | c.1037C>A (p.Thr346Lys) c.*336C>A (n.*336C>A) | |
14 | g.94379492_94379493insAC | CA616114918 | SERPINA1 | c.1036_1037insGT (p.Thr346SerfsTer7) c.*335_*336insGT (n.*335_*336insGT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94379493T>A | CA390848048 | SERPINA1 | c.1036A>T (p.Thr346Ser) c.*335A>T (n.*335A>T) | |
14 | g.94379493T>C | CA390848049 | SERPINA1 | c.1036A>G (p.Thr346Ala) c.*335A>G (n.*335A>G) | gnomAD v3 gnomAD v4 |
14 | g.94379493T>G | CA390848050 | SERPINA1 | c.1036A>C (p.Thr346Pro) c.*335A>C (n.*335A>C) | |
14 | g.94379494G>A | CA487621414 | SERPINA1 | c.1035C>T (p.Val345=) c.*334C>T (n.*334C>T) | gnomAD v4 |
14 | g.94379494G>C | CA487621415 | SERPINA1 | c.1035C>G (p.Val345=) c.*334C>G (n.*334C>G) | |
14 | g.94379494G>T | CA487621416 | SERPINA1 | c.1035C>A (p.Val345=) c.*334C>A (n.*334C>A) | |
14 | g.94379495A>C | CA390848051 | SERPINA1 | c.1034T>G (p.Val345Gly) c.*333T>G (n.*333T>G) | |
14 | g.94379495A>G | CA390848052 | SERPINA1 | c.1034T>C (p.Val345Ala) c.*333T>C (n.*333T>C) | gnomAD v4 |
14 | g.94379495A>T | CA390848053 | SERPINA1 | c.1034T>A (p.Val345Asp) c.*333T>A (n.*333T>A) | gnomAD v4 |
14 | g.94379496C>A | CA7327328 | SERPINA1 | c.1033G>T (p.Val345Phe) c.*332G>T (n.*332G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94379496C= | CA2155951266 | SERPINA1 | c.1033G= (p.Val345=) c.*332G= (n.*332G=) | |
14 | g.94379496C>G | CA390848054 | SERPINA1 | c.1033G>C (p.Val345Leu) c.*332G>C (n.*332G>C) | |
14 | g.94379496C>T | CA265860970 | SERPINA1 | c.1033G>A (p.Val345Ile) c.*332G>A (n.*332G>A) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94379497C>A | CA487621417 | SERPINA1 | c.1032G>T (p.Gly344=) c.*331G>T (n.*331G>T) | dbSNP |
14 | g.94379497C= | CA2155951271 | SERPINA1 | c.1032G= (p.Gly344=) c.*331G= (n.*331G=) | |
14 | g.94379497C>G | CA487621418 | SERPINA1 | c.1032G>C (p.Gly344=) c.*331G>C (n.*331G>C) | |
14 | g.94379497C>T | CA265860971 | SERPINA1 | c.1032G>A (p.Gly344=) c.*331G>A (n.*331G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94379498C>A | CA7327329 | SERPINA1 | c.1031G>T (p.Gly344Val) c.*330G>T (n.*330G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94379498C= | CA2155951274 | SERPINA1 | c.1031G= (p.Gly344=) c.*330G= (n.*330G=) | |
14 | g.94379498C>G | CA390848055 | SERPINA1 | c.1031G>C (p.Gly344Ala) c.*330G>C (n.*330G>C) | |
14 | g.94379498C>T | CA390848056 | SERPINA1 | c.1031G>A (p.Gly344Glu) c.*330G>A (n.*330G>A) | |
14 | g.94379499C>A | CA390848057 | SERPINA1 | c.1030G>T (p.Gly344Trp) c.*329G>T (n.*329G>T) | |
14 | g.94379499C= | CA2155951276 | SERPINA1 | c.1030G= (p.Gly344=) c.*329G= (n.*329G=) | |
14 | g.94379499C>G | CA390848058 | SERPINA1 | c.1030G>C (p.Gly344Arg) c.*329G>C (n.*329G>C) | |
14 | g.94379499C>T | CA7327330 | SERPINA1 | c.1030G>A (p.Gly344Arg) c.*329G>A (n.*329G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.94379500G>A | CA7327331 | SERPINA1 | c.1029C>T (p.Ser343=) c.*328C>T (n.*328C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.94379500G>C | CA487621419 | SERPINA1 | c.1029C>G (p.Ser343=) c.*328C>G (n.*328C>G) | gnomAD v3 gnomAD v4 |
14 | g.94379500G= | CA2155951280 | SERPINA1 | c.1029C= (p.Ser343=) c.*328C= (n.*328C=) | |
14 | g.94379500G>T | CA487621420 | SERPINA1 | c.1029C>A (p.Ser343=) c.*328C>A (n.*328C>A) | |
14 | g.94379500_94379502delinsGGA | CA2155951282 | SERPINA1 | c.1027_1029delinsTCC (p.Ser343=) c.*326_*328delinsTCC (n.*326_*328delinsTCC) | |
14 | g.94379501G>A | CA390848059 | SERPINA1 | c.1028C>T (p.Ser343Phe) c.*327C>T (n.*327C>T) | |
14 | g.94379501G>C | CA390848060 | SERPINA1 | c.1028C>G (p.Ser343Cys) c.*327C>G (n.*327C>G) | |
14 | g.94379501G>T | CA390848061 | SERPINA1 | c.1028C>A (p.Ser343Tyr) c.*327C>A (n.*327C>A) | |
14 | g.94379504_94379505del | CA16602244 | SERPINA1 | c.1027_1028del (p.Ser343ArgfsTer16) c.1027_1028del (p.Ser343ArgfsTer?) c.*326_*327del (n.*326_*327del) | ClinVar dbSNP |
14 | g.94379502A= | CA2155951289 | SERPINA1 | c.1027T= (p.Ser343=) c.*326T= (n.*326T=) | |
14 | g.94379502A>C | CA390848064 | SERPINA1 | c.1027T>G (p.Ser343Ala) c.*326T>G (n.*326T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94379502A>G | CA390848063 | SERPINA1 | c.1027T>C (p.Ser343Pro) c.*326T>C (n.*326T>C) | |
14 | g.94379502A>T | CA390848062 | SERPINA1 | c.1027T>A (p.Ser343Thr) c.*326T>A (n.*326T>A) | |
14 | g.94379503G>A | CA487621422 | SERPINA1 | c.1026C>T (p.Leu342=) c.*325C>T (n.*325C>T) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94379503G>C | CA487621423 | SERPINA1 | c.1026C>G (p.Leu342=) c.*325C>G (n.*325C>G) | |
14 | g.94379503G= | CA2155951294 | SERPINA1 | c.1026C= (p.Leu342=) c.*325C= (n.*325C=) | |
14 | g.94379503G>T | CA487621425 | SERPINA1 | c.1026C>A (p.Leu342=) c.*325C>A (n.*325C>A) | |
14 | g.94379504A>C | CA390848065 | SERPINA1 | c.1025T>G (p.Leu342Arg) c.*324T>G (n.*324T>G) | |
14 | g.94379504A>G | CA390848066 | SERPINA1 | c.1025T>C (p.Leu342Pro) c.*324T>C (n.*324T>C) | |
14 | g.94379504A>T | CA390848067 | SERPINA1 | c.1025T>A (p.Leu342His) c.*324T>A (n.*324T>A) | |
14 | g.94379505G>A | CA390848068 | SERPINA1 | c.1024C>T (p.Leu342Phe) c.*323C>T (n.*323C>T) | gnomAD v4 |
14 | g.94379505G>C | CA390848069 | SERPINA1 | c.1024C>G (p.Leu342Val) c.*323C>G (n.*323C>G) | |
14 | g.94379505G>T | CA390848070 | SERPINA1 | c.1024C>A (p.Leu342Ile) c.*323C>A (n.*323C>A) | |
14 | g.94379505_94379506del | CA966133163 | SERPINA1 | c.1023_1024del (p.Ser343ArgfsTer16) c.1023_1024del (p.Ser343ArgfsTer?) c.*322_*323del (n.*322_*323del) | gnomAD v3 gnomAD v4 |
14 | g.94379506G>A | CA487621427 | SERPINA1 | c.1023C>T (p.Asp341=) c.*322C>T (n.*322C>T) | ClinVar |
14 | g.94379506G>C | CA390848071 | SERPINA1 | c.1023C>G (p.Asp341Glu) c.*322C>G (n.*322C>G) | |
14 | g.94379506G>T | CA390848072 | SERPINA1 | c.1023C>A (p.Asp341Glu) c.*322C>A (n.*322C>A) | |
14 | g.94379507T>A | CA390848073 | SERPINA1 | c.1022A>T (p.Asp341Val) c.*321A>T (n.*321A>T) | |
14 | g.94379507T>C | CA390848074 | SERPINA1 | c.1022A>G (p.Asp341Gly) c.*321A>G (n.*321A>G) | |
14 | g.94379507T>G | CA390848075 | SERPINA1 | c.1022A>C (p.Asp341Ala) c.*321A>C (n.*321A>C) | gnomAD v4 |
14 | g.94379508C>A | CA390848076 | SERPINA1 | c.1021G>T (p.Asp341Tyr) c.*320G>T (n.*320G>T) | |
14 | g.94379508C= | CA2155951298 | SERPINA1 | c.1021G= (p.Asp341=) c.*320G= (n.*320G=) | |
14 | g.94379508C>G | CA390848077 | SERPINA1 | c.1021G>C (p.Asp341His) c.*320G>C (n.*320G>C) | |
14 | g.94379508C>T | CA265860972 | SERPINA1 | c.1021G>A (p.Asp341Asn) c.*320G>A (n.*320G>A) | dbSNP |
14 | g.94379509A= | CA2155951300 | SERPINA1 | c.1020T= (p.Ala340=) c.*319T= (n.*319T=) | |
14 | g.94379509A>C | CA487621429 | SERPINA1 | c.1020T>G (p.Ala340=) c.*319T>G (n.*319T>G) | |
14 | g.94379509A>G | CA265860973 | SERPINA1 | c.1020T>C (p.Ala340=) c.*319T>C (n.*319T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94379509A>T | CA487621430 | SERPINA1 | c.1020T>A (p.Ala340=) c.*319T>A (n.*319T>A) | |
14 | g.94379510G>A | CA390848078 | SERPINA1 | c.1019C>T (p.Ala340Val) c.*318C>T (n.*318C>T) | dbSNP gnomAD v2 |
14 | g.94379510G>C | CA390848079 | SERPINA1 | c.1019C>G (p.Ala340Gly) c.*318C>G (n.*318C>G) | |
14 | g.94379510G= | CA2155951304 | SERPINA1 | c.1019C= (p.Ala340=) c.*318C= (n.*318C=) | |
14 | g.94379510G>T | CA390848080 | SERPINA1 | c.1019C>A (p.Ala340Asp) c.*318C>A (n.*318C>A) | |
14 | g.94379510_94379511delinsGC | CA2155951303 | SERPINA1 | c.1018_1019delinsGC (p.Ala340=) c.*317_*318delinsGC (n.*317_*318delinsGC) | |
14 | g.94379511C>A | CA390848081 | SERPINA1 | c.1018G>T (p.Ala340Ser) c.*317G>T (n.*317G>T) | |
14 | g.94379511C>G | CA390848082 | SERPINA1 | c.1018G>C (p.Ala340Pro) c.*317G>C (n.*317G>C) | |
14 | g.94379511C>T | CA390848083 | SERPINA1 | c.1018G>A (p.Ala340Thr) c.*317G>A (n.*317G>A) | |
14 | g.94379514del | CA16041708 | SERPINA1 | c.1018del (p.Ala340LeufsTer12) c.*317del (n.*317del) | ClinVar dbSNP |
14 | g.94379512C>A | CA487621433 | SERPINA1 | c.1017G>T (p.Gly339=) c.*316G>T (n.*316G>T) | gnomAD v4 |
14 | g.94379512C>G | CA487621434 | SERPINA1 | c.1017G>C (p.Gly339=) c.*316G>C (n.*316G>C) | |
14 | g.94379512C>T | CA487621435 | SERPINA1 | c.1017G>A (p.Gly339=) c.*316G>A (n.*316G>A) | |
14 | g.94379513C>A | CA390848084 | SERPINA1 | c.1016G>T (p.Gly339Val) c.*315G>T (n.*315G>T) | gnomAD v4 |
14 | g.94379513C= | CA2155951311 | SERPINA1 | c.1016G= (p.Gly339=) c.*315G= (n.*315G=) | |
14 | g.94379513C>G | CA390848085 | SERPINA1 | c.1016G>C (p.Gly339Ala) c.*315G>C (n.*315G>C) | |
14 | g.94379513C>T | CA265860975 | SERPINA1 | c.1016G>A (p.Gly339Glu) c.*315G>A (n.*315G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.94379514C>A | CA7327332 | SERPINA1 | c.1015G>T (p.Gly339Trp) c.*314G>T (n.*314G>T) | dbSNP ExAC gnomAD v2 COSMIC |
14 | g.94379514C= | CA2155951314 | SERPINA1 | c.1015G= (p.Gly339=) c.*314G= (n.*314G=) | |
14 | g.94379514C>G | CA390848086 | SERPINA1 | c.1015G>C (p.Gly339Arg) c.*314G>C (n.*314G>C) | gnomAD v4 |
14 | g.94379514C>T | CA390848087 | SERPINA1 | c.1015G>A (p.Gly339Arg) c.*314G>A (n.*314G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.94379515A= | CA2155951322 | SERPINA1 | c.1014T= (p.Asn338=) c.*313T= (n.*313T=) | |
14 | g.94379515A>C | CA390848089 | SERPINA1 | c.1014T>G (p.Asn338Lys) c.*313T>G (n.*313T>G) | |
14 | g.94379515A>G | CA7327333 | SERPINA1 | c.1014T>C (p.Asn338=) c.*313T>C (n.*313T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94379515A>T | CA390848088 | SERPINA1 | c.1014T>A (p.Asn338Lys) c.*313T>A (n.*313T>A) | ClinVar dbSNP gnomAD v4 |
14 | g.94379516T>A | CA390848090 | SERPINA1 | c.1013A>T (p.Asn338Ile) c.*312A>T (n.*312A>T) | |
14 | g.94379516T>C | CA390848092 | SERPINA1 | c.1013A>G (p.Asn338Ser) c.*312A>G (n.*312A>G) | |
14 | g.94379516T>G | CA390848091 | SERPINA1 | c.1013A>C (p.Asn338Thr) c.*312A>C (n.*312A>C) | |
14 | g.94379517T>A | CA390848093 | SERPINA1 | c.1012A>T (p.Asn338Tyr) c.*311A>T (n.*311A>T) | |
14 | g.94379517T>C | CA390848095 | SERPINA1 | c.1012A>G (p.Asn338Asp) c.*311A>G (n.*311A>G) | gnomAD v3 gnomAD v4 |
14 | g.94379517T>G | CA390848094 | SERPINA1 | c.1012A>C (p.Asn338His) c.*311A>C (n.*311A>C) | |
14 | g.94379518G>A | CA487621436 | SERPINA1 | c.1011C>T (p.Ser337=) c.*310C>T (n.*310C>T) | |
14 | g.94379518G>C | CA390848096 | SERPINA1 | c.1011C>G (p.Ser337Arg) c.*310C>G (n.*310C>G) | |
14 | g.94379518G>T | CA390848097 | SERPINA1 | c.1011C>A (p.Ser337Arg) c.*310C>A (n.*310C>A) | |
14 | g.94379519C>A | CA390848098 | SERPINA1 | c.1010G>T (p.Ser337Ile) c.*309G>T (n.*309G>T) | |
14 | g.94379519C>G | CA390848099 | SERPINA1 | c.1010G>C (p.Ser337Thr) c.*309G>C (n.*309G>C) | |
14 | g.94379519C>T | CA390848100 | SERPINA1 | c.1010G>A (p.Ser337Asn) c.*309G>A (n.*309G>A) | |
14 | g.94379520T>A | CA390848101 | SERPINA1 | c.1009A>T (p.Ser337Cys) c.*308A>T (n.*308A>T) | |
14 | g.94379520T>C | CA390848102 | SERPINA1 | c.1009A>G (p.Ser337Gly) c.*308A>G (n.*308A>G) | |
14 | g.94379520T>G | CA390848103 | SERPINA1 | c.1009A>C (p.Ser337Arg) c.*308A>C (n.*308A>C) | gnomAD v4 COSMIC |
14 | g.94379523_94379534del | CA2626280257 | SERPINA1 | c.998_1009del (p.Thr333_Phe336del) c.*297_*308del (n.*297_*308del) | gnomAD v4 |
14 | g.94379521G>A | CA487621438 | SERPINA1 | c.1008C>T (p.Phe336=) c.*307C>T (n.*307C>T) | |
14 | g.94379521G>C | CA390848105 | SERPINA1 | c.1008C>G (p.Phe336Leu) c.*307C>G (n.*307C>G) | |
14 | g.94379521G>T | CA390848104 | SERPINA1 | c.1008C>A (p.Phe336Leu) c.*307C>A (n.*307C>A) | |
14 | g.94379522A>C | CA390848106 | SERPINA1 | c.1007T>G (p.Phe336Cys) c.*306T>G (n.*306T>G) | |
14 | g.94379522A>G | CA390848107 | SERPINA1 | c.1007T>C (p.Phe336Ser) c.*306T>C (n.*306T>C) | |
14 | g.94379522A>T | CA390848108 | SERPINA1 | c.1007T>A (p.Phe336Tyr) c.*306T>A (n.*306T>A) | |
14 | g.94379523A>C | CA390848109 | SERPINA1 | c.1006T>G (p.Phe336Val) c.*305T>G (n.*305T>G) | |
14 | g.94379523A>G | CA390848110 | SERPINA1 | c.1006T>C (p.Phe336Leu) c.*305T>C (n.*305T>C) | |
14 | g.94379523A>T | CA390848111 | SERPINA1 | c.1006T>A (p.Phe336Ile) c.*305T>A (n.*305T>A) | |
14 | g.94379524G>A | CA487621442 | SERPINA1 | c.1005C>T (p.Val335=) c.*304C>T (n.*304C>T) | dbSNP |
14 | g.94379524G>C | CA487621444 | SERPINA1 | c.1005C>G (p.Val335=) c.*304C>G (n.*304C>G) | |
14 | g.94379524G= | CA2155951325 | SERPINA1 | c.1005C= (p.Val335=) c.*304C= (n.*304C=) | |
14 | g.94379524G>T | CA487621445 | SERPINA1 | c.1005C>A (p.Val335=) c.*304C>A (n.*304C>A) |