Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.40605569T>A | CA405933432 | LTBP4 | c.607T>A (p.Leu203Met) c.697T>A (p.Leu233Met) c.808T>A (p.Leu270Met) n.428+5466T>A c.*543T>A (n.*543T>A) c.841T>A (p.Leu281Met) c.199T>A (p.Leu67Met) | |
19 | g.40605569T>C | CA9448072 | LTBP4 | c.607T>C (p.Leu203=) c.697T>C (p.Leu233=) c.808T>C (p.Leu270=) n.428+5466T>C c.*543T>C (n.*543T>C) c.841T>C (p.Leu281=) c.199T>C (p.Leu67=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40605569T>G | CA405933435 | LTBP4 | c.607T>G (p.Leu203Val) c.697T>G (p.Leu233Val) c.808T>G (p.Leu270Val) n.428+5466T>G c.*543T>G (n.*543T>G) c.841T>G (p.Leu281Val) c.199T>G (p.Leu67Val) | |
19 | g.40605569T= | CA2336060066 | LTBP4 | c.607T= (p.Leu203=) c.697T= (p.Leu233=) c.808T= (p.Leu270=) n.428+5466T= c.*543T= (n.*543T=) c.841T= (p.Leu281=) c.199T= (p.Leu67=) | |
19 | g.40605570T>A | CA405933437 | LTBP4 | c.608T>A (p.Leu203Ter) c.698T>A (p.Leu233Ter) c.809T>A (p.Leu270Ter) n.428+5467T>A c.*544T>A (n.*544T>A) c.842T>A (p.Leu281Ter) c.200T>A (p.Leu67Ter) | ClinVar |
19 | g.40605570T>C | CA405933439 | LTBP4 | c.608T>C (p.Leu203Ser) c.698T>C (p.Leu233Ser) c.809T>C (p.Leu270Ser) n.428+5467T>C c.*544T>C (n.*544T>C) c.842T>C (p.Leu281Ser) c.200T>C (p.Leu67Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.40605570T>G | CA405933440 | LTBP4 | c.608T>G (p.Leu203Trp) c.698T>G (p.Leu233Trp) c.809T>G (p.Leu270Trp) n.428+5467T>G c.*544T>G (n.*544T>G) c.842T>G (p.Leu281Trp) c.200T>G (p.Leu67Trp) | |
19 | g.40605570T= | CA2336060067 | LTBP4 | c.608T= (p.Leu203=) c.698T= (p.Leu233=) c.809T= (p.Leu270=) n.428+5467T= c.*544T= (n.*544T=) c.842T= (p.Leu281=) c.200T= (p.Leu67=) | |
19 | g.40605571G>A | CA9448073 | LTBP4 | c.609G>A (p.Leu203=) c.699G>A (p.Leu233=) c.810G>A (p.Leu270=) n.428+5468G>A c.*545G>A (n.*545G>A) c.843G>A (p.Leu281=) c.201G>A (p.Leu67=) | dbSNP ExAC gnomAD v2 |
19 | g.40605571G>C | CA405933444 | LTBP4 | c.609G>C (p.Leu203Phe) c.699G>C (p.Leu233Phe) c.810G>C (p.Leu270Phe) n.428+5468G>C c.*545G>C (n.*545G>C) c.843G>C (p.Leu281Phe) c.201G>C (p.Leu67Phe) | gnomAD v4 |
19 | g.40605571G= | CA2336060068 | LTBP4 | c.609G= (p.Leu203=) c.699G= (p.Leu233=) c.810G= (p.Leu270=) n.428+5468G= c.*545G= (n.*545G=) c.843G= (p.Leu281=) c.201G= (p.Leu67=) | |
19 | g.40605571G>T | CA405933442 | LTBP4 | c.609G>T (p.Leu203Phe) c.699G>T (p.Leu233Phe) c.810G>T (p.Leu270Phe) n.428+5468G>T c.*545G>T (n.*545G>T) c.843G>T (p.Leu281Phe) c.201G>T (p.Leu67Phe) | |
19 | g.40605572G>A | CA405933446 | LTBP4 | c.610G>A (p.Ala204Thr) c.700G>A (p.Ala234Thr) c.811G>A (p.Ala271Thr) n.428+5469G>A c.*546G>A (n.*546G>A) c.844G>A (p.Ala282Thr) c.202G>A (p.Ala68Thr) | dbSNP gnomAD v4 |
19 | g.40605572G>C | CA405933449 | LTBP4 | c.610G>C (p.Ala204Pro) c.700G>C (p.Ala234Pro) c.811G>C (p.Ala271Pro) n.428+5469G>C c.*546G>C (n.*546G>C) c.844G>C (p.Ala282Pro) c.202G>C (p.Ala68Pro) | |
19 | g.40605572G= | CA2336060069 | LTBP4 | c.610G= (p.Ala204=) c.700G= (p.Ala234=) c.811G= (p.Ala271=) n.428+5469G= c.*546G= (n.*546G=) c.844G= (p.Ala282=) c.202G= (p.Ala68=) | |
19 | g.40605572G>T | CA9448074 | LTBP4 | c.610G>T (p.Ala204Ser) c.700G>T (p.Ala234Ser) c.811G>T (p.Ala271Ser) n.428+5469G>T c.*546G>T (n.*546G>T) c.844G>T (p.Ala282Ser) c.202G>T (p.Ala68Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40605573C>A | CA405933451 | LTBP4 | c.611C>A (p.Ala204Glu) c.701C>A (p.Ala234Glu) c.812C>A (p.Ala271Glu) n.428+5470C>A c.*547C>A (n.*547C>A) c.845C>A (p.Ala282Glu) c.203C>A (p.Ala68Glu) | |
19 | g.40605573C= | CA2336060070 | LTBP4 | c.611C= (p.Ala204=) c.701C= (p.Ala234=) c.812C= (p.Ala271=) n.428+5470C= c.*547C= (n.*547C=) c.845C= (p.Ala282=) c.203C= (p.Ala68=) | |
19 | g.40605573C>G | CA405933452 | LTBP4 | c.611C>G (p.Ala204Gly) c.701C>G (p.Ala234Gly) c.812C>G (p.Ala271Gly) n.428+5470C>G c.*547C>G (n.*547C>G) c.845C>G (p.Ala282Gly) c.203C>G (p.Ala68Gly) | |
19 | g.40605573C>T | CA405933454 | LTBP4 | c.611C>T (p.Ala204Val) c.701C>T (p.Ala234Val) c.812C>T (p.Ala271Val) n.428+5470C>T c.*547C>T (n.*547C>T) c.845C>T (p.Ala282Val) c.203C>T (p.Ala68Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.40605574A= | CA2336060071 | LTBP4 | c.612A= (p.Ala204=) c.702A= (p.Ala234=) c.813A= (p.Ala271=) n.428+5471A= c.*548A= (n.*548A=) c.846A= (p.Ala282=) c.204A= (p.Ala68=) | |
19 | g.40605574A>C | CA9448075 | LTBP4 | c.612A>C (p.Ala204=) c.702A>C (p.Ala234=) c.813A>C (p.Ala271=) n.428+5471A>C c.*548A>C (n.*548A>C) c.846A>C (p.Ala282=) c.204A>C (p.Ala68=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40605574A>G | CA507684579 | LTBP4 | c.612A>G (p.Ala204=) c.702A>G (p.Ala234=) c.813A>G (p.Ala271=) n.428+5471A>G c.*548A>G (n.*548A>G) c.846A>G (p.Ala282=) c.204A>G (p.Ala68=) | |
19 | g.40605574A>T | CA507684578 | LTBP4 | c.612A>T (p.Ala204=) c.702A>T (p.Ala234=) c.813A>T (p.Ala271=) n.428+5471A>T c.*548A>T (n.*548A>T) c.846A>T (p.Ala282=) c.204A>T (p.Ala68=) | gnomAD v4 |
19 | g.40605575C>A | CA405933457 | LTBP4 | c.613C>A (p.Gln205Lys) c.703C>A (p.Gln235Lys) c.814C>A (p.Gln272Lys) n.428+5472C>A c.*549C>A (n.*549C>A) c.847C>A (p.Gln283Lys) c.205C>A (p.Gln69Lys) | |
19 | g.40605575C= | CA2336060072 | LTBP4 | c.613C= (p.Gln205=) c.703C= (p.Gln235=) c.814C= (p.Gln272=) n.428+5472C= c.*549C= (n.*549C=) c.847C= (p.Gln283=) c.205C= (p.Gln69=) | |
19 | g.40605575C>G | CA405933459 | LTBP4 | c.613C>G (p.Gln205Glu) c.703C>G (p.Gln235Glu) c.814C>G (p.Gln272Glu) n.428+5472C>G c.*549C>G (n.*549C>G) c.847C>G (p.Gln283Glu) c.205C>G (p.Gln69Glu) | |
19 | g.40605575C>T | CA405933461 | LTBP4 | c.613C>T (p.Gln205Ter) c.703C>T (p.Gln235Ter) c.814C>T (p.Gln272Ter) n.428+5472C>T c.*549C>T (n.*549C>T) c.847C>T (p.Gln283Ter) c.205C>T (p.Gln69Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40605576A>C | CA405933463 | LTBP4 | c.614A>C (p.Gln205Pro) c.704A>C (p.Gln235Pro) c.815A>C (p.Gln272Pro) n.428+5473A>C c.*550A>C (n.*550A>C) c.848A>C (p.Gln283Pro) c.206A>C (p.Gln69Pro) | |
19 | g.40605576A>G | CA405933465 | LTBP4 | c.614A>G (p.Gln205Arg) c.704A>G (p.Gln235Arg) c.815A>G (p.Gln272Arg) n.428+5473A>G c.*550A>G (n.*550A>G) c.848A>G (p.Gln283Arg) c.206A>G (p.Gln69Arg) | |
19 | g.40605576A>T | CA405933467 | LTBP4 | c.614A>T (p.Gln205Leu) c.704A>T (p.Gln235Leu) c.815A>T (p.Gln272Leu) n.428+5473A>T c.*550A>T (n.*550A>T) c.848A>T (p.Gln283Leu) c.206A>T (p.Gln69Leu) | |
19 | g.40605576_40605594del | CA2585156262 | LTBP4 | c.614_632del (p.Gln205ProfsTer?) c.704_722del (p.Gln235ProfsTer?) c.815_833del (p.Gln272ProfsTer?) n.428+5473_428+5491del c.*550_*568del (n.*550_*568del) c.848_866del (p.Gln283ProfsTer?) c.206_224del (p.Gln69ProfsTer?) | gnomAD v4 |
19 | g.40605577G>A | CA507684580 | LTBP4 | c.615G>A (p.Gln205=) c.705G>A (p.Gln235=) c.816G>A (p.Gln272=) n.428+5474G>A c.*551G>A (n.*551G>A) c.849G>A (p.Gln283=) c.207G>A (p.Gln69=) | |
19 | g.40605577G>C | CA405933468 | LTBP4 | c.615G>C (p.Gln205His) c.705G>C (p.Gln235His) c.816G>C (p.Gln272His) n.428+5474G>C c.*551G>C (n.*551G>C) c.849G>C (p.Gln283His) c.207G>C (p.Gln69His) | |
19 | g.40605577G>T | CA405933470 | LTBP4 | c.615G>T (p.Gln205His) c.705G>T (p.Gln235His) c.816G>T (p.Gln272His) n.428+5474G>T c.*551G>T (n.*551G>T) c.849G>T (p.Gln283His) c.207G>T (p.Gln69His) | |
19 | g.40605578A>C | CA405933475 | LTBP4 | c.616A>C (p.Ser206Arg) c.706A>C (p.Ser236Arg) c.817A>C (p.Ser273Arg) n.428+5475A>C c.*552A>C (n.*552A>C) c.850A>C (p.Ser284Arg) c.208A>C (p.Ser70Arg) | |
19 | g.40605578A>G | CA405933472 | LTBP4 | c.616A>G (p.Ser206Gly) c.706A>G (p.Ser236Gly) c.817A>G (p.Ser273Gly) n.428+5475A>G c.*552A>G (n.*552A>G) c.850A>G (p.Ser284Gly) c.208A>G (p.Ser70Gly) | gnomAD v4 |
19 | g.40605578A>T | CA405933473 | LTBP4 | c.616A>T (p.Ser206Cys) c.706A>T (p.Ser236Cys) c.817A>T (p.Ser273Cys) n.428+5475A>T c.*552A>T (n.*552A>T) c.850A>T (p.Ser284Cys) c.208A>T (p.Ser70Cys) | |
19 | g.40605579G>A | CA405933477 | LTBP4 | c.617G>A (p.Ser206Asn) c.707G>A (p.Ser236Asn) c.818G>A (p.Ser273Asn) n.428+5476G>A c.*553G>A (n.*553G>A) c.851G>A (p.Ser284Asn) c.209G>A (p.Ser70Asn) | gnomAD v4 |
19 | g.40605579G>C | CA405933479 | LTBP4 | c.617G>C (p.Ser206Thr) c.707G>C (p.Ser236Thr) c.818G>C (p.Ser273Thr) n.428+5476G>C c.*553G>C (n.*553G>C) c.851G>C (p.Ser284Thr) c.209G>C (p.Ser70Thr) | |
19 | g.40605579G>T | CA405933481 | LTBP4 | c.617G>T (p.Ser206Ile) c.707G>T (p.Ser236Ile) c.818G>T (p.Ser273Ile) n.428+5476G>T c.*553G>T (n.*553G>T) c.851G>T (p.Ser284Ile) c.209G>T (p.Ser70Ile) | |
19 | g.40605580C>A | CA405933483 | LTBP4 | c.618C>A (p.Ser206Arg) c.708C>A (p.Ser236Arg) c.819C>A (p.Ser273Arg) n.428+5477C>A c.*554C>A (n.*554C>A) c.852C>A (p.Ser284Arg) c.210C>A (p.Ser70Arg) | ClinVar |
19 | g.40605580C= | CA2336060073 | LTBP4 | c.618C= (p.Ser206=) c.708C= (p.Ser236=) c.819C= (p.Ser273=) n.428+5477C= c.*554C= (n.*554C=) c.852C= (p.Ser284=) c.210C= (p.Ser70=) | |
19 | g.40605580C>G | CA405933485 | LTBP4 | c.618C>G (p.Ser206Arg) c.708C>G (p.Ser236Arg) c.819C>G (p.Ser273Arg) n.428+5477C>G c.*554C>G (n.*554C>G) c.852C>G (p.Ser284Arg) c.210C>G (p.Ser70Arg) | |
19 | g.40605580C>T | CA507684581 | LTBP4 | c.618C>T (p.Ser206=) c.708C>T (p.Ser236=) c.819C>T (p.Ser273=) n.428+5477C>T c.*554C>T (n.*554C>T) c.852C>T (p.Ser284=) c.210C>T (p.Ser70=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40605581G>A | CA405933486 | LTBP4 | c.619G>A (p.Ala207Thr) c.709G>A (p.Ala237Thr) c.820G>A (p.Ala274Thr) n.428+5478G>A c.*555G>A (n.*555G>A) c.853G>A (p.Ala285Thr) c.211G>A (p.Ala71Thr) | dbSNP gnomAD v2 |
19 | g.40605581G>C | CA405933487 | LTBP4 | c.619G>C (p.Ala207Pro) c.709G>C (p.Ala237Pro) c.820G>C (p.Ala274Pro) n.428+5478G>C c.*555G>C (n.*555G>C) c.853G>C (p.Ala285Pro) c.211G>C (p.Ala71Pro) | |
19 | g.40605581G= | CA2336060074 | LTBP4 | c.619G= (p.Ala207=) c.709G= (p.Ala237=) c.820G= (p.Ala274=) n.428+5478G= c.*555G= (n.*555G=) c.853G= (p.Ala285=) c.211G= (p.Ala71=) | |
19 | g.40605581G>T | CA405933489 | LTBP4 | c.619G>T (p.Ala207Ser) c.709G>T (p.Ala237Ser) c.820G>T (p.Ala274Ser) n.428+5478G>T c.*555G>T (n.*555G>T) c.853G>T (p.Ala285Ser) c.211G>T (p.Ala71Ser) | dbSNP |
19 | g.40605582C>A | CA405933491 | LTBP4 | c.620C>A (p.Ala207Glu) c.710C>A (p.Ala237Glu) c.821C>A (p.Ala274Glu) n.428+5479C>A c.*556C>A (n.*556C>A) c.854C>A (p.Ala285Glu) c.212C>A (p.Ala71Glu) | |
19 | g.40605582C= | CA2336060075 | LTBP4 | c.620C= (p.Ala207=) c.710C= (p.Ala237=) c.821C= (p.Ala274=) n.428+5479C= c.*556C= (n.*556C=) c.854C= (p.Ala285=) c.212C= (p.Ala71=) | |
19 | g.40605582C>G | CA405933492 | LTBP4 | c.620C>G (p.Ala207Gly) c.710C>G (p.Ala237Gly) c.821C>G (p.Ala274Gly) n.428+5479C>G c.*556C>G (n.*556C>G) c.854C>G (p.Ala285Gly) c.212C>G (p.Ala71Gly) | |
19 | g.40605582C>T | CA9448076 | LTBP4 | c.620C>T (p.Ala207Val) c.710C>T (p.Ala237Val) c.821C>T (p.Ala274Val) n.428+5479C>T c.*556C>T (n.*556C>T) c.854C>T (p.Ala285Val) c.212C>T (p.Ala71Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40605583G>A | CA507684582 | LTBP4 | c.621G>A (p.Ala207=) c.711G>A (p.Ala237=) c.822G>A (p.Ala274=) n.428+5480G>A c.*557G>A (n.*557G>A) c.855G>A (p.Ala285=) c.213G>A (p.Ala71=) | |
19 | g.40605583G>C | CA507684583 | LTBP4 | c.621G>C (p.Ala207=) c.711G>C (p.Ala237=) c.822G>C (p.Ala274=) n.428+5480G>C c.*557G>C (n.*557G>C) c.855G>C (p.Ala285=) c.213G>C (p.Ala71=) | |
19 | g.40605583G= | CA2336060076 | LTBP4 | c.621G= (p.Ala207=) c.711G= (p.Ala237=) c.822G= (p.Ala274=) n.428+5480G= c.*557G= (n.*557G=) c.855G= (p.Ala285=) c.213G= (p.Ala71=) | |
19 | g.40605583G>T | CA507684584 | LTBP4 | c.621G>T (p.Ala207=) c.711G>T (p.Ala237=) c.822G>T (p.Ala274=) n.428+5480G>T c.*557G>T (n.*557G>T) c.855G>T (p.Ala285=) c.213G>T (p.Ala71=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.40605584C>A | CA405933498 | LTBP4 | c.622C>A (p.Pro208Thr) c.712C>A (p.Pro238Thr) c.823C>A (p.Pro275Thr) n.428+5481C>A c.*558C>A (n.*558C>A) c.856C>A (p.Pro286Thr) c.214C>A (p.Pro72Thr) | |
19 | g.40605584C= | CA2336060077 | LTBP4 | c.622C= (p.Pro208=) c.712C= (p.Pro238=) c.823C= (p.Pro275=) n.428+5481C= c.*558C= (n.*558C=) c.856C= (p.Pro286=) c.214C= (p.Pro72=) | |
19 | g.40605584C>G | CA405933496 | LTBP4 | c.622C>G (p.Pro208Ala) c.712C>G (p.Pro238Ala) c.823C>G (p.Pro275Ala) n.428+5481C>G c.*558C>G (n.*558C>G) c.856C>G (p.Pro286Ala) c.214C>G (p.Pro72Ala) | |
19 | g.40605584C>T | CA308447773 | LTBP4 | c.622C>T (p.Pro208Ser) c.712C>T (p.Pro238Ser) c.823C>T (p.Pro275Ser) n.428+5481C>T c.*558C>T (n.*558C>T) c.856C>T (p.Pro286Ser) c.214C>T (p.Pro72Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40605585C>A | CA308447777 | LTBP4 | c.623C>A (p.Pro208Gln) c.713C>A (p.Pro238Gln) c.824C>A (p.Pro275Gln) n.428+5482C>A c.*559C>A (n.*559C>A) c.857C>A (p.Pro286Gln) c.215C>A (p.Pro72Gln) | ClinVar dbSNP gnomAD v4 |
19 | g.40605585C= | CA2336060078 | LTBP4 | c.623C= (p.Pro208=) c.713C= (p.Pro238=) c.824C= (p.Pro275=) n.428+5482C= c.*559C= (n.*559C=) c.857C= (p.Pro286=) c.215C= (p.Pro72=) | |
19 | g.40605585C>G | CA405933501 | LTBP4 | c.623C>G (p.Pro208Arg) c.713C>G (p.Pro238Arg) c.824C>G (p.Pro275Arg) n.428+5482C>G c.*559C>G (n.*559C>G) c.857C>G (p.Pro286Arg) c.215C>G (p.Pro72Arg) | |
19 | g.40605585C>T | CA405933503 | LTBP4 | c.623C>T (p.Pro208Leu) c.713C>T (p.Pro238Leu) c.824C>T (p.Pro275Leu) n.428+5482C>T c.*559C>T (n.*559C>T) c.857C>T (p.Pro286Leu) c.215C>T (p.Pro72Leu) | gnomAD v4 |
19 | g.40605586G>A | CA507684585 | LTBP4 | c.624G>A (p.Pro208=) c.714G>A (p.Pro238=) c.825G>A (p.Pro275=) n.428+5483G>A c.*560G>A (n.*560G>A) c.858G>A (p.Pro286=) c.216G>A (p.Pro72=) | gnomAD v4 |
19 | g.40605586G>C | CA507684586 | LTBP4 | c.624G>C (p.Pro208=) c.714G>C (p.Pro238=) c.825G>C (p.Pro275=) n.428+5483G>C c.*560G>C (n.*560G>C) c.858G>C (p.Pro286=) c.216G>C (p.Pro72=) | |
19 | g.40605586G>T | CA507684587 | LTBP4 | c.624G>T (p.Pro208=) c.714G>T (p.Pro238=) c.825G>T (p.Pro275=) n.428+5483G>T c.*560G>T (n.*560G>T) c.858G>T (p.Pro286=) c.216G>T (p.Pro72=) | gnomAD v4 |
19 | g.40605587C>A | CA507684588 | LTBP4 | c.625C>A (p.Arg209=) c.715C>A (p.Arg239=) c.826C>A (p.Arg276=) n.428+5484C>A c.*561C>A (n.*561C>A) c.859C>A (p.Arg287=) c.217C>A (p.Arg73=) | |
19 | g.40605587C>G | CA405933505 | LTBP4 | c.625C>G (p.Arg209Gly) c.715C>G (p.Arg239Gly) c.826C>G (p.Arg276Gly) n.428+5484C>G c.*561C>G (n.*561C>G) c.859C>G (p.Arg287Gly) c.217C>G (p.Arg73Gly) | |
19 | g.40605587C>T | CA405933506 | LTBP4 | c.625C>T (p.Arg209Trp) c.715C>T (p.Arg239Trp) c.826C>T (p.Arg276Trp) n.428+5484C>T c.*561C>T (n.*561C>T) c.859C>T (p.Arg287Trp) c.217C>T (p.Arg73Trp) | |
19 | g.40605588G>A | CA405933508 | LTBP4 | c.626G>A (p.Arg209Gln) c.716G>A (p.Arg239Gln) c.827G>A (p.Arg276Gln) n.428+5485G>A c.*562G>A (n.*562G>A) c.860G>A (p.Arg287Gln) c.218G>A (p.Arg73Gln) | |
19 | g.40605588G>C | CA405933510 | LTBP4 | c.626G>C (p.Arg209Pro) c.716G>C (p.Arg239Pro) c.827G>C (p.Arg276Pro) n.428+5485G>C c.*562G>C (n.*562G>C) c.860G>C (p.Arg287Pro) c.218G>C (p.Arg73Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40605588G= | CA2336060079 | LTBP4 | c.626G= (p.Arg209=) c.716G= (p.Arg239=) c.827G= (p.Arg276=) n.428+5485G= c.*562G= (n.*562G=) c.860G= (p.Arg287=) c.218G= (p.Arg73=) | |
19 | g.40605588G>T | CA405933512 | LTBP4 | c.626G>T (p.Arg209Leu) c.716G>T (p.Arg239Leu) c.827G>T (p.Arg276Leu) n.428+5485G>T c.*562G>T (n.*562G>T) c.860G>T (p.Arg287Leu) c.218G>T (p.Arg73Leu) | |
19 | g.40605589G>A | CA507684589 | LTBP4 | c.627G>A (p.Arg209=) c.717G>A (p.Arg239=) c.828G>A (p.Arg276=) n.428+5486G>A c.*563G>A (n.*563G>A) c.861G>A (p.Arg287=) c.219G>A (p.Arg73=) | |
19 | g.40605589G>C | CA507684591 | LTBP4 | c.627G>C (p.Arg209=) c.717G>C (p.Arg239=) c.828G>C (p.Arg276=) n.428+5486G>C c.*563G>C (n.*563G>C) c.861G>C (p.Arg287=) c.219G>C (p.Arg73=) | |
19 | g.40605589G>T | CA507684590 | LTBP4 | c.627G>T (p.Arg209=) c.717G>T (p.Arg239=) c.828G>T (p.Arg276=) n.428+5486G>T c.*563G>T (n.*563G>T) c.861G>T (p.Arg287=) c.219G>T (p.Arg73=) | |
19 | g.40605590G>A | CA405933514 | LTBP4 | c.628G>A (p.Glu210Lys) c.718G>A (p.Glu240Lys) c.829G>A (p.Glu277Lys) n.428+5487G>A c.*564G>A (n.*564G>A) c.862G>A (p.Glu288Lys) c.220G>A (p.Glu74Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.40605590G>C | CA405933515 | LTBP4 | c.628G>C (p.Glu210Gln) c.718G>C (p.Glu240Gln) c.829G>C (p.Glu277Gln) n.428+5487G>C c.*564G>C (n.*564G>C) c.862G>C (p.Glu288Gln) c.220G>C (p.Glu74Gln) | |
19 | g.40605590G= | CA2336060080 | LTBP4 | c.628G= (p.Glu210=) c.718G= (p.Glu240=) c.829G= (p.Glu277=) n.428+5487G= c.*564G= (n.*564G=) c.862G= (p.Glu288=) c.220G= (p.Glu74=) | |
19 | g.40605590G>T | CA405933517 | LTBP4 | c.628G>T (p.Glu210Ter) c.718G>T (p.Glu240Ter) c.829G>T (p.Glu277Ter) n.428+5487G>T c.*564G>T (n.*564G>T) c.862G>T (p.Glu288Ter) c.220G>T (p.Glu74Ter) | gnomAD v4 |
19 | g.40605591A>C | CA405933518 | LTBP4 | c.629A>C (p.Glu210Ala) c.719A>C (p.Glu240Ala) c.830A>C (p.Glu277Ala) n.428+5488A>C c.*565A>C (n.*565A>C) c.863A>C (p.Glu288Ala) c.221A>C (p.Glu74Ala) | |
19 | g.40605591A>G | CA405933520 | LTBP4 | c.629A>G (p.Glu210Gly) c.719A>G (p.Glu240Gly) c.830A>G (p.Glu277Gly) n.428+5488A>G c.*565A>G (n.*565A>G) c.863A>G (p.Glu288Gly) c.221A>G (p.Glu74Gly) | |
19 | g.40605591A>T | CA405933522 | LTBP4 | c.629A>T (p.Glu210Val) c.719A>T (p.Glu240Val) c.830A>T (p.Glu277Val) n.428+5488A>T c.*565A>T (n.*565A>T) c.863A>T (p.Glu288Val) c.221A>T (p.Glu74Val) | |
19 | g.40605592G>A | CA507684592 | LTBP4 | c.630G>A (p.Glu210=) c.720G>A (p.Glu240=) c.831G>A (p.Glu277=) n.428+5489G>A c.*566G>A (n.*566G>A) c.864G>A (p.Glu288=) c.222G>A (p.Glu74=) | dbSNP gnomAD v2 |
19 | g.40605592G>C | CA405933524 | LTBP4 | c.630G>C (p.Glu210Asp) c.720G>C (p.Glu240Asp) c.831G>C (p.Glu277Asp) n.428+5489G>C c.*566G>C (n.*566G>C) c.864G>C (p.Glu288Asp) c.222G>C (p.Glu74Asp) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.40605592G= | CA2336060081 | LTBP4 | c.630G= (p.Glu210=) c.720G= (p.Glu240=) c.831G= (p.Glu277=) n.428+5489G= c.*566G= (n.*566G=) c.864G= (p.Glu288=) c.222G= (p.Glu74=) | |
19 | g.40605592G>T | CA405933526 | LTBP4 | c.630G>T (p.Glu210Asp) c.720G>T (p.Glu240Asp) c.831G>T (p.Glu277Asp) n.428+5489G>T c.*566G>T (n.*566G>T) c.864G>T (p.Glu288Asp) c.222G>T (p.Glu74Asp) | gnomAD v4 |
19 | g.40605593G>A | CA405933528 | LTBP4 | c.631G>A (p.Asp211Asn) c.721G>A (p.Asp241Asn) c.832G>A (p.Asp278Asn) n.428+5490G>A c.*567G>A (n.*567G>A) c.865G>A (p.Asp289Asn) c.223G>A (p.Asp75Asn) | dbSNP gnomAD v4 |
19 | g.40605593G>C | CA405933529 | LTBP4 | c.631G>C (p.Asp211His) c.721G>C (p.Asp241His) c.832G>C (p.Asp278His) n.428+5490G>C c.*567G>C (n.*567G>C) c.865G>C (p.Asp289His) c.223G>C (p.Asp75His) | |
19 | g.40605593G= | CA2336060082 | LTBP4 | c.631G= (p.Asp211=) c.721G= (p.Asp241=) c.832G= (p.Asp278=) n.428+5490G= c.*567G= (n.*567G=) c.865G= (p.Asp289=) c.223G= (p.Asp75=) | |
19 | g.40605593G>T | CA405933530 | LTBP4 | c.631G>T (p.Asp211Tyr) c.721G>T (p.Asp241Tyr) c.832G>T (p.Asp278Tyr) n.428+5490G>T c.*567G>T (n.*567G>T) c.865G>T (p.Asp289Tyr) c.223G>T (p.Asp75Tyr) | |
19 | g.40605594A= | CA2336060083 | LTBP4 | c.632A= (p.Asp211=) c.722A= (p.Asp241=) c.833A= (p.Asp278=) n.428+5491A= c.*568A= (n.*568A=) c.866A= (p.Asp289=) c.224A= (p.Asp75=) | |
19 | g.40605594A>C | CA405933532 | LTBP4 | c.632A>C (p.Asp211Ala) c.722A>C (p.Asp241Ala) c.833A>C (p.Asp278Ala) n.428+5491A>C c.*568A>C (n.*568A>C) c.866A>C (p.Asp289Ala) c.224A>C (p.Asp75Ala) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.40605594A>G | CA308447779 | LTBP4 | c.632A>G (p.Asp211Gly) c.722A>G (p.Asp241Gly) c.833A>G (p.Asp278Gly) n.428+5491A>G c.*568A>G (n.*568A>G) c.866A>G (p.Asp289Gly) c.224A>G (p.Asp75Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40605594A>T | CA405933534 | LTBP4 | c.632A>T (p.Asp211Val) c.722A>T (p.Asp241Val) c.833A>T (p.Asp278Val) n.428+5491A>T c.*568A>T (n.*568A>T) c.866A>T (p.Asp289Val) c.224A>T (p.Asp75Val) | |
19 | g.40605595C>A | CA405933537 | LTBP4 | c.633C>A (p.Asp211Glu) c.723C>A (p.Asp241Glu) c.834C>A (p.Asp278Glu) n.428+5492C>A c.*569C>A (n.*569C>A) c.867C>A (p.Asp289Glu) c.225C>A (p.Asp75Glu) | gnomAD v4 |
19 | g.40605595C= | CA2336060084 | LTBP4 | c.633C= (p.Asp211=) c.723C= (p.Asp241=) c.834C= (p.Asp278=) n.428+5492C= c.*569C= (n.*569C=) c.867C= (p.Asp289=) c.225C= (p.Asp75=) | |
19 | g.40605595C>G | CA405933539 | LTBP4 | c.633C>G (p.Asp211Glu) c.723C>G (p.Asp241Glu) c.834C>G (p.Asp278Glu) n.428+5492C>G c.*569C>G (n.*569C>G) c.867C>G (p.Asp289Glu) c.225C>G (p.Asp75Glu) | |
19 | g.40605595C>T | CA9448077 | LTBP4 | c.633C>T (p.Asp211=) c.723C>T (p.Asp241=) c.834C>T (p.Asp278=) n.428+5492C>T c.*569C>T (n.*569C>T) c.867C>T (p.Asp289=) c.225C>T (p.Asp75=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.40605596G>A | CA9448078 | LTBP4 | c.634G>A (p.Gly212Ser) c.724G>A (p.Gly242Ser) c.835G>A (p.Gly279Ser) n.428+5493G>A c.*570G>A (n.*570G>A) c.868G>A (p.Gly290Ser) c.226G>A (p.Gly76Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40605596G>C | CA405933541 | LTBP4 | c.634G>C (p.Gly212Arg) c.724G>C (p.Gly242Arg) c.835G>C (p.Gly279Arg) n.428+5493G>C c.*570G>C (n.*570G>C) c.868G>C (p.Gly290Arg) c.226G>C (p.Gly76Arg) | gnomAD v4 |
19 | g.40605596G= | CA2336060085 | LTBP4 | c.634G= (p.Gly212=) c.724G= (p.Gly242=) c.835G= (p.Gly279=) n.428+5493G= c.*570G= (n.*570G=) c.868G= (p.Gly290=) c.226G= (p.Gly76=) | |
19 | g.40605596G>T | CA405933542 | LTBP4 | c.634G>T (p.Gly212Cys) c.724G>T (p.Gly242Cys) c.835G>T (p.Gly279Cys) n.428+5493G>T c.*570G>T (n.*570G>T) c.868G>T (p.Gly290Cys) c.226G>T (p.Gly76Cys) | |
19 | g.40605597G>A | CA405933543 | LTBP4 | c.635G>A (p.Gly212Asp) c.725G>A (p.Gly242Asp) c.836G>A (p.Gly279Asp) n.428+5494G>A c.*571G>A (n.*571G>A) c.869G>A (p.Gly290Asp) c.227G>A (p.Gly76Asp) | |
19 | g.40605597G>C | CA405933547 | LTBP4 | c.635G>C (p.Gly212Ala) c.725G>C (p.Gly242Ala) c.836G>C (p.Gly279Ala) n.428+5494G>C c.*571G>C (n.*571G>C) c.869G>C (p.Gly290Ala) c.227G>C (p.Gly76Ala) | |
19 | g.40605597G= | CA2336060086 | LTBP4 | c.635G= (p.Gly212=) c.725G= (p.Gly242=) c.836G= (p.Gly279=) n.428+5494G= c.*571G= (n.*571G=) c.869G= (p.Gly290=) c.227G= (p.Gly76=) | |
19 | g.40605597G>T | CA405933545 | LTBP4 | c.635G>T (p.Gly212Val) c.725G>T (p.Gly242Val) c.836G>T (p.Gly279Val) n.428+5494G>T c.*571G>T (n.*571G>T) c.869G>T (p.Gly290Val) c.227G>T (p.Gly76Val) | dbSNP gnomAD v4 |
19 | g.40605598C>A | CA507684593 | LTBP4 | c.636C>A (p.Gly212=) c.726C>A (p.Gly242=) c.837C>A (p.Gly279=) n.428+5495C>A c.*572C>A (n.*572C>A) c.870C>A (p.Gly290=) c.228C>A (p.Gly76=) | gnomAD v4 |
19 | g.40605598C= | CA2336060087 | LTBP4 | c.636C= (p.Gly212=) c.726C= (p.Gly242=) c.837C= (p.Gly279=) n.428+5495C= c.*572C= (n.*572C=) c.870C= (p.Gly290=) c.228C= (p.Gly76=) | |
19 | g.40605598C>G | CA507684594 | LTBP4 | c.636C>G (p.Gly212=) c.726C>G (p.Gly242=) c.837C>G (p.Gly279=) n.428+5495C>G c.*572C>G (n.*572C>G) c.870C>G (p.Gly290=) c.228C>G (p.Gly76=) | gnomAD v4 |
19 | g.40605598C>T | CA308447783 | LTBP4 | c.636C>T (p.Gly212=) c.726C>T (p.Gly242=) c.837C>T (p.Gly279=) n.428+5495C>T c.*572C>T (n.*572C>T) c.870C>T (p.Gly290=) c.228C>T (p.Gly76=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.40605599T>A | CA405933549 | LTBP4 | c.637T>A (p.Tyr213Asn) c.727T>A (p.Tyr243Asn) c.838T>A (p.Tyr280Asn) n.428+5496T>A c.*573T>A (n.*573T>A) c.871T>A (p.Tyr291Asn) c.229T>A (p.Tyr77Asn) | |
19 | g.40605599T>C | CA9448079 | LTBP4 | c.637T>C (p.Tyr213His) c.727T>C (p.Tyr243His) c.838T>C (p.Tyr280His) n.428+5496T>C c.*573T>C (n.*573T>C) c.871T>C (p.Tyr291His) c.229T>C (p.Tyr77His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40605599T>G | CA405933550 | LTBP4 | c.637T>G (p.Tyr213Asp) c.727T>G (p.Tyr243Asp) c.838T>G (p.Tyr280Asp) n.428+5496T>G c.*573T>G (n.*573T>G) c.871T>G (p.Tyr291Asp) c.229T>G (p.Tyr77Asp) | |
19 | g.40605599T= | CA2336060088 | LTBP4 | c.637T= (p.Tyr213=) c.727T= (p.Tyr243=) c.838T= (p.Tyr280=) n.428+5496T= c.*573T= (n.*573T=) c.871T= (p.Tyr291=) c.229T= (p.Tyr77=) | |
19 | g.40605600A>C | CA405933554 | LTBP4 | c.638A>C (p.Tyr213Ser) c.728A>C (p.Tyr243Ser) c.839A>C (p.Tyr280Ser) n.428+5497A>C c.*574A>C (n.*574A>C) c.872A>C (p.Tyr291Ser) c.230A>C (p.Tyr77Ser) | |
19 | g.40605600A>G | CA405933558 | LTBP4 | c.638A>G (p.Tyr213Cys) c.728A>G (p.Tyr243Cys) c.839A>G (p.Tyr280Cys) n.428+5497A>G c.*574A>G (n.*574A>G) c.872A>G (p.Tyr291Cys) c.230A>G (p.Tyr77Cys) | |
19 | g.40605600A>T | CA405933556 | LTBP4 | c.638A>T (p.Tyr213Phe) c.728A>T (p.Tyr243Phe) c.839A>T (p.Tyr280Phe) n.428+5497A>T c.*574A>T (n.*574A>T) c.872A>T (p.Tyr291Phe) c.230A>T (p.Tyr77Phe) | |
19 | g.40605601C>A | CA405933560 | LTBP4 | c.639C>A (p.Tyr213Ter) c.729C>A (p.Tyr243Ter) c.840C>A (p.Tyr280Ter) n.428+5498C>A c.*575C>A (n.*575C>A) c.873C>A (p.Tyr291Ter) c.231C>A (p.Tyr77Ter) | |
19 | g.40605601C= | CA2336060089 | LTBP4 | c.639C= (p.Tyr213=) c.729C= (p.Tyr243=) c.840C= (p.Tyr280=) n.428+5498C= c.*575C= (n.*575C=) c.873C= (p.Tyr291=) c.231C= (p.Tyr77=) | |
19 | g.40605601C>G | CA405933562 | LTBP4 | c.639C>G (p.Tyr213Ter) c.729C>G (p.Tyr243Ter) c.840C>G (p.Tyr280Ter) n.428+5498C>G c.*575C>G (n.*575C>G) c.873C>G (p.Tyr291Ter) c.231C>G (p.Tyr77Ter) | |
19 | g.40605601C>T | CA9448080 | LTBP4 | c.639C>T (p.Tyr213=) c.729C>T (p.Tyr243=) c.840C>T (p.Tyr280=) n.428+5498C>T c.*575C>T (n.*575C>T) c.873C>T (p.Tyr291=) c.231C>T (p.Tyr77=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40605602T>A | CA405933564 | LTBP4 | c.640T>A (p.Ser214Thr) c.730T>A (p.Ser244Thr) c.841T>A (p.Ser281Thr) n.428+5499T>A c.*576T>A (n.*576T>A) c.874T>A (p.Ser292Thr) c.232T>A (p.Ser78Thr) | |
19 | g.40605602T>C | CA405933565 | LTBP4 | c.640T>C (p.Ser214Pro) c.730T>C (p.Ser244Pro) c.841T>C (p.Ser281Pro) n.428+5499T>C c.*576T>C (n.*576T>C) c.874T>C (p.Ser292Pro) c.232T>C (p.Ser78Pro) | |
19 | g.40605602T>G | CA405933567 | LTBP4 | c.640T>G (p.Ser214Ala) c.730T>G (p.Ser244Ala) c.841T>G (p.Ser281Ala) n.428+5499T>G c.*576T>G (n.*576T>G) c.874T>G (p.Ser292Ala) c.232T>G (p.Ser78Ala) | |
19 | g.40605603C>A | CA405933569 | LTBP4 | c.641C>A (p.Ser214Ter) c.731C>A (p.Ser244Ter) c.842C>A (p.Ser281Ter) n.428+5500C>A c.*577C>A (n.*577C>A) c.875C>A (p.Ser292Ter) c.233C>A (p.Ser78Ter) | gnomAD v4 |
19 | g.40605603C>G | CA405933571 | LTBP4 | c.641C>G (p.Ser214Ter) c.731C>G (p.Ser244Ter) c.842C>G (p.Ser281Ter) n.428+5500C>G c.*577C>G (n.*577C>G) c.875C>G (p.Ser292Ter) c.233C>G (p.Ser78Ter) | |
19 | g.40605603C>T | CA405933573 | LTBP4 | c.641C>T (p.Ser214Leu) c.731C>T (p.Ser244Leu) c.842C>T (p.Ser281Leu) n.428+5500C>T c.*577C>T (n.*577C>T) c.875C>T (p.Ser292Leu) c.233C>T (p.Ser78Leu) | |
19 | g.40605604A>C | CA507684595 | LTBP4 | c.642A>C (p.Ser214=) c.732A>C (p.Ser244=) c.843A>C (p.Ser281=) n.428+5501A>C c.*578A>C (n.*578A>C) c.876A>C (p.Ser292=) c.234A>C (p.Ser78=) | |
19 | g.40605604A>G | CA507684596 | LTBP4 | c.642A>G (p.Ser214=) c.732A>G (p.Ser244=) c.843A>G (p.Ser281=) n.428+5501A>G c.*578A>G (n.*578A>G) c.876A>G (p.Ser292=) c.234A>G (p.Ser78=) | gnomAD v4 |
19 | g.40605604A>T | CA507684597 | LTBP4 | c.642A>T (p.Ser214=) c.732A>T (p.Ser244=) c.843A>T (p.Ser281=) n.428+5501A>T c.*578A>T (n.*578A>T) c.876A>T (p.Ser292=) c.234A>T (p.Ser78=) | |
19 | g.40605605G>A | CA405933575 | LTBP4 | c.643G>A (p.Asp215Asn) c.733G>A (p.Asp245Asn) c.844G>A (p.Asp282Asn) n.428+5502G>A c.*579G>A (n.*579G>A) c.877G>A (p.Asp293Asn) c.235G>A (p.Asp79Asn) | gnomAD v4 |
19 | g.40605605G>C | CA405933577 | LTBP4 | c.643G>C (p.Asp215His) c.733G>C (p.Asp245His) c.844G>C (p.Asp282His) n.428+5502G>C c.*579G>C (n.*579G>C) c.877G>C (p.Asp293His) c.235G>C (p.Asp79His) | |
19 | g.40605605G= | CA2336060090 | LTBP4 | c.643G= (p.Asp215=) c.733G= (p.Asp245=) c.844G= (p.Asp282=) n.428+5502G= c.*579G= (n.*579G=) c.877G= (p.Asp293=) c.235G= (p.Asp79=) | |
19 | g.40605605G>T | CA405933578 | LTBP4 | c.643G>T (p.Asp215Tyr) c.733G>T (p.Asp245Tyr) c.844G>T (p.Asp282Tyr) n.428+5502G>T c.*579G>T (n.*579G>T) c.877G>T (p.Asp293Tyr) c.235G>T (p.Asp79Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40605606A= | CA2336060091 | LTBP4 | c.644A= (p.Asp215=) c.734A= (p.Asp245=) c.845A= (p.Asp282=) n.428+5503A= c.*580A= (n.*580A=) c.878A= (p.Asp293=) c.236A= (p.Asp79=) | |
19 | g.40605606A>C | CA405933580 | LTBP4 | c.644A>C (p.Asp215Ala) c.734A>C (p.Asp245Ala) c.845A>C (p.Asp282Ala) n.428+5503A>C c.*580A>C (n.*580A>C) c.878A>C (p.Asp293Ala) c.236A>C (p.Asp79Ala) | |
19 | g.40605606A>G | CA405933581 | LTBP4 | c.644A>G (p.Asp215Gly) c.734A>G (p.Asp245Gly) c.845A>G (p.Asp282Gly) n.428+5503A>G c.*580A>G (n.*580A>G) c.878A>G (p.Asp293Gly) c.236A>G (p.Asp79Gly) | |
19 | g.40605606A>T | CA308447792 | LTBP4 | c.644A>T (p.Asp215Val) c.734A>T (p.Asp245Val) c.845A>T (p.Asp282Val) n.428+5503A>T c.*580A>T (n.*580A>T) c.878A>T (p.Asp293Val) c.236A>T (p.Asp79Val) | dbSNP gnomAD v4 |
19 | g.40605607T>A | CA405933584 | LTBP4 | c.645T>A (p.Asp215Glu) c.735T>A (p.Asp245Glu) c.846T>A (p.Asp282Glu) n.428+5504T>A c.879T>A (p.Asp293Glu) c.237T>A (p.Asp79Glu) | |
19 | g.40605607T>C | CA9448081 | LTBP4 | c.645T>C (p.Asp215=) c.735T>C (p.Asp245=) c.846T>C (p.Asp282=) n.428+5504T>C c.879T>C (p.Asp293=) c.237T>C (p.Asp79=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40605607T>G | CA405933586 | LTBP4 | c.645T>G (p.Asp215Glu) c.735T>G (p.Asp245Glu) c.846T>G (p.Asp282Glu) n.428+5504T>G c.879T>G (p.Asp293Glu) c.237T>G (p.Asp79Glu) | |
19 | g.40605607T= | CA2336060092 | LTBP4 | c.645T= (p.Asp215=) c.735T= (p.Asp245=) c.846T= (p.Asp282=) n.428+5504T= c.879T= (p.Asp293=) c.237T= (p.Asp79=) | |
19 | g.40605608G>A | CA405933588 | LTBP4 | c.646G>A (p.Ala216Thr) c.736G>A (p.Ala246Thr) c.847G>A (p.Ala283Thr) n.428+5505G>A c.880G>A (p.Ala294Thr) c.238G>A (p.Ala80Thr) | |
19 | g.40605608G>C | CA405933590 | LTBP4 | c.646G>C (p.Ala216Pro) c.736G>C (p.Ala246Pro) c.847G>C (p.Ala283Pro) n.428+5505G>C c.880G>C (p.Ala294Pro) c.238G>C (p.Ala80Pro) | |
19 | g.40605608G>T | CA405933592 | LTBP4 | c.646G>T (p.Ala216Ser) c.736G>T (p.Ala246Ser) c.847G>T (p.Ala283Ser) n.428+5505G>T c.880G>T (p.Ala294Ser) c.238G>T (p.Ala80Ser) | gnomAD v4 |
19 | g.40605609C>A | CA405933594 | LTBP4 | c.647C>A (p.Ala216Asp) c.737C>A (p.Ala246Asp) c.848C>A (p.Ala283Asp) n.428+5506C>A c.881C>A (p.Ala294Asp) c.239C>A (p.Ala80Asp) | gnomAD v4 |
19 | g.40605609C= | CA2336060093 | LTBP4 | c.647C= (p.Ala216=) c.737C= (p.Ala246=) c.848C= (p.Ala283=) n.428+5506C= c.881C= (p.Ala294=) c.239C= (p.Ala80=) | |
19 | g.40605609C>G | CA405933595 | LTBP4 | c.647C>G (p.Ala216Gly) c.737C>G (p.Ala246Gly) c.848C>G (p.Ala283Gly) n.428+5506C>G c.881C>G (p.Ala294Gly) c.239C>G (p.Ala80Gly) | |
19 | g.40605609C>T | CA9448082 | LTBP4 | c.647C>T (p.Ala216Val) c.737C>T (p.Ala246Val) c.848C>T (p.Ala283Val) n.428+5506C>T c.881C>T (p.Ala294Val) c.239C>T (p.Ala80Val) | dbSNP ExAC gnomAD v4 |
19 | g.40605610C>A | CA507684599 | LTBP4 | c.648C>A (p.Ala216=) c.738C>A (p.Ala246=) c.849C>A (p.Ala283=) n.428+5507C>A c.882C>A (p.Ala294=) c.240C>A (p.Ala80=) | gnomAD v4 |
19 | g.40605610C>G | CA507684600 | LTBP4 | c.648C>G (p.Ala216=) c.738C>G (p.Ala246=) c.849C>G (p.Ala283=) n.428+5507C>G c.882C>G (p.Ala294=) c.240C>G (p.Ala80=) | |
19 | g.40605610C>T | CA507684598 | LTBP4 | c.648C>T (p.Ala216=) c.738C>T (p.Ala246=) c.849C>T (p.Ala283=) n.428+5507C>T c.882C>T (p.Ala294=) c.240C>T (p.Ala80=) | |
19 | g.40605611T>A | CA405933600 | LTBP4 | c.649T>A (p.Ser217Thr) c.739T>A (p.Ser247Thr) c.850T>A (p.Ser284Thr) n.428+5508T>A c.883T>A (p.Ser295Thr) c.241T>A (p.Ser81Thr) | |
19 | g.40605611T>C | CA405933601 | LTBP4 | c.649T>C (p.Ser217Pro) c.739T>C (p.Ser247Pro) c.850T>C (p.Ser284Pro) n.428+5508T>C c.883T>C (p.Ser295Pro) c.241T>C (p.Ser81Pro) | gnomAD v4 |
19 | g.40605611T>G | CA405933598 | LTBP4 | c.649T>G (p.Ser217Ala) c.739T>G (p.Ser247Ala) c.850T>G (p.Ser284Ala) n.428+5508T>G c.883T>G (p.Ser295Ala) c.241T>G (p.Ser81Ala) | |
19 | g.40605612C>A | CA405933602 | LTBP4 | c.650C>A (p.Ser217Ter) c.740C>A (p.Ser247Ter) c.851C>A (p.Ser284Ter) n.428+5509C>A c.884C>A (p.Ser295Ter) c.242C>A (p.Ser81Ter) | gnomAD v4 |
19 | g.40605612C= | CA2336060094 | LTBP4 | c.650C= (p.Ser217=) c.740C= (p.Ser247=) c.851C= (p.Ser284=) n.428+5509C= c.884C= (p.Ser295=) c.242C= (p.Ser81=) | |
19 | g.40605612C>G | CA405933604 | LTBP4 | c.650C>G (p.Ser217Trp) c.740C>G (p.Ser247Trp) c.851C>G (p.Ser284Trp) n.428+5509C>G c.884C>G (p.Ser295Trp) c.242C>G (p.Ser81Trp) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.40605612C>T | CA9448083 | LTBP4 | c.650C>T (p.Ser217Leu) c.740C>T (p.Ser247Leu) c.851C>T (p.Ser284Leu) n.428+5509C>T c.884C>T (p.Ser295Leu) c.242C>T (p.Ser81Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.40605613G>A | CA507684603 | LTBP4 | c.651G>A (p.Ser217=) c.741G>A (p.Ser247=) c.852G>A (p.Ser284=) n.428+5510G>A c.885G>A (p.Ser295=) c.243G>A (p.Ser81=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40605613G>C | CA507684601 | LTBP4 | c.651G>C (p.Ser217=) c.741G>C (p.Ser247=) c.852G>C (p.Ser284=) n.428+5510G>C c.885G>C (p.Ser295=) c.243G>C (p.Ser81=) | dbSNP |
19 | g.40605613G= | CA2336060095 | LTBP4 | c.651G= (p.Ser217=) c.741G= (p.Ser247=) c.852G= (p.Ser284=) n.428+5510G= c.885G= (p.Ser295=) c.243G= (p.Ser81=) | |
19 | g.40605613G>T | CA507684602 | LTBP4 | c.651G>T (p.Ser217=) c.741G>T (p.Ser247=) c.852G>T (p.Ser284=) n.428+5510G>T c.885G>T (p.Ser295=) c.243G>T (p.Ser81=) | gnomAD v4 |
19 | g.40605614G>A | CA405933607 | LTBP4 | c.652G>A (p.Gly218Ser) c.742G>A (p.Gly248Ser) c.853G>A (p.Gly285Ser) n.428+5511G>A c.886G>A (p.Gly296Ser) c.244G>A (p.Gly82Ser) | gnomAD v4 |
19 | g.40605614G>C | CA405933609 | LTBP4 | c.652G>C (p.Gly218Arg) c.742G>C (p.Gly248Arg) c.853G>C (p.Gly285Arg) n.428+5511G>C c.886G>C (p.Gly296Arg) c.244G>C (p.Gly82Arg) | |
19 | g.40605614G>T | CA405933610 | LTBP4 | c.652G>T (p.Gly218Cys) c.742G>T (p.Gly248Cys) c.853G>T (p.Gly285Cys) n.428+5511G>T c.886G>T (p.Gly296Cys) c.244G>T (p.Gly82Cys) | gnomAD v4 |
19 | g.40605615G>A | CA405933612 | LTBP4 | c.653G>A (p.Gly218Asp) c.743G>A (p.Gly248Asp) c.854G>A (p.Gly285Asp) n.428+5512G>A c.887G>A (p.Gly296Asp) c.245G>A (p.Gly82Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.40605615G>C | CA405933614 | LTBP4 | c.653G>C (p.Gly218Ala) c.743G>C (p.Gly248Ala) c.854G>C (p.Gly285Ala) n.428+5512G>C c.887G>C (p.Gly296Ala) c.245G>C (p.Gly82Ala) | |
19 | g.40605615G= | CA2336060096 | LTBP4 | c.653G= (p.Gly218=) c.743G= (p.Gly248=) c.854G= (p.Gly285=) n.428+5512G= c.887G= (p.Gly296=) c.245G= (p.Gly82=) | |
19 | g.40605615G>T | CA405933615 | LTBP4 | c.653G>T (p.Gly218Val) c.743G>T (p.Gly248Val) c.854G>T (p.Gly285Val) n.428+5512G>T c.887G>T (p.Gly296Val) c.245G>T (p.Gly82Val) | |
19 | g.40605616C>A | CA507684604 | LTBP4 | c.654C>A (p.Gly218=) c.744C>A (p.Gly248=) c.855C>A (p.Gly285=) n.428+5513C>A c.888C>A (p.Gly296=) c.246C>A (p.Gly82=) | dbSNP gnomAD v4 |
19 | g.40605616C= | CA2336060097 | LTBP4 | c.654C= (p.Gly218=) c.744C= (p.Gly248=) c.855C= (p.Gly285=) n.428+5513C= c.888C= (p.Gly296=) c.246C= (p.Gly82=) | |
19 | g.40605616C>G | CA507684606 | LTBP4 | c.654C>G (p.Gly218=) c.744C>G (p.Gly248=) c.855C>G (p.Gly285=) n.428+5513C>G c.888C>G (p.Gly296=) c.246C>G (p.Gly82=) | |
19 | g.40605616C>T | CA507684605 | LTBP4 | c.654C>T (p.Gly218=) c.744C>T (p.Gly248=) c.855C>T (p.Gly285=) n.428+5513C>T c.888C>T (p.Gly296=) c.246C>T (p.Gly82=) | dbSNP |
19 | g.40605617T>A | CA405933617 | LTBP4 | c.655T>A (p.Phe219Ile) c.745T>A (p.Phe249Ile) c.856T>A (p.Phe286Ile) n.428+5514T>A c.889T>A (p.Phe297Ile) c.247T>A (p.Phe83Ile) | dbSNP |
19 | g.40605617T>C | CA405933619 | LTBP4 | c.655T>C (p.Phe219Leu) c.745T>C (p.Phe249Leu) c.856T>C (p.Phe286Leu) n.428+5514T>C c.889T>C (p.Phe297Leu) c.247T>C (p.Phe83Leu) | |
19 | g.40605617T>G | CA405933621 | LTBP4 | c.655T>G (p.Phe219Val) c.745T>G (p.Phe249Val) c.856T>G (p.Phe286Val) n.428+5514T>G c.889T>G (p.Phe297Val) c.247T>G (p.Phe83Val) | |
19 | g.40605617T= | CA2336060098 | LTBP4 | c.655T= (p.Phe219=) c.745T= (p.Phe249=) c.856T= (p.Phe286=) n.428+5514T= c.889T= (p.Phe297=) c.247T= (p.Phe83=) | |
19 | g.40605618T>A | CA405933624 | LTBP4 | c.656T>A (p.Phe219Tyr) c.746T>A (p.Phe249Tyr) c.857T>A (p.Phe286Tyr) n.428+5515T>A c.890T>A (p.Phe297Tyr) c.248T>A (p.Phe83Tyr) | gnomAD v4 |
19 | g.40605618T>C | CA405933626 | LTBP4 | c.656T>C (p.Phe219Ser) c.746T>C (p.Phe249Ser) c.857T>C (p.Phe286Ser) n.428+5515T>C c.890T>C (p.Phe297Ser) c.248T>C (p.Phe83Ser) | |
19 | g.40605618T>G | CA405933623 | LTBP4 | c.656T>G (p.Phe219Cys) c.746T>G (p.Phe249Cys) c.857T>G (p.Phe286Cys) n.428+5515T>G c.890T>G (p.Phe297Cys) c.248T>G (p.Phe83Cys) | |
19 | g.40605619C>A | CA405933628 | LTBP4 | c.657C>A (p.Phe219Leu) c.747C>A (p.Phe249Leu) c.858C>A (p.Phe286Leu) n.428+5516C>A c.891C>A (p.Phe297Leu) c.249C>A (p.Phe83Leu) | gnomAD v4 |
19 | g.40605619C>G | CA405933629 | LTBP4 | c.657C>G (p.Phe219Leu) c.747C>G (p.Phe249Leu) c.858C>G (p.Phe286Leu) n.428+5516C>G c.891C>G (p.Phe297Leu) c.249C>G (p.Phe83Leu) | |
19 | g.40605619C>T | CA507684607 | LTBP4 | c.657C>T (p.Phe219=) c.747C>T (p.Phe249=) c.858C>T (p.Phe286=) n.428+5516C>T c.891C>T (p.Phe297=) c.249C>T (p.Phe83=) | gnomAD v4 |
19 | g.40605620G>A | CA405933631 | LTBP4 | c.658G>A (p.Gly220Ser) c.748G>A (p.Gly250Ser) c.859G>A (p.Gly287Ser) n.428+5517G>A c.892G>A (p.Gly298Ser) c.250G>A (p.Gly84Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40605620G>C | CA405933633 | LTBP4 | c.658G>C (p.Gly220Arg) c.748G>C (p.Gly250Arg) c.859G>C (p.Gly287Arg) n.428+5517G>C c.892G>C (p.Gly298Arg) c.250G>C (p.Gly84Arg) | |
19 | g.40605620G= | CA2336060099 | LTBP4 | c.658G= (p.Gly220=) c.748G= (p.Gly250=) c.859G= (p.Gly287=) n.428+5517G= c.892G= (p.Gly298=) c.250G= (p.Gly84=) | |
19 | g.40605620G>T | CA9448084 | LTBP4 | c.658G>T (p.Gly220Cys) c.748G>T (p.Gly250Cys) c.859G>T (p.Gly287Cys) n.428+5517G>T c.892G>T (p.Gly298Cys) c.250G>T (p.Gly84Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.40605621G>A | CA9448085 | LTBP4 | c.659G>A (p.Gly220Asp) c.749G>A (p.Gly250Asp) c.860G>A (p.Gly287Asp) n.428+5518G>A c.893G>A (p.Gly298Asp) c.251G>A (p.Gly84Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.40605621G>C | CA405933637 | LTBP4 | c.659G>C (p.Gly220Ala) c.749G>C (p.Gly250Ala) c.860G>C (p.Gly287Ala) n.428+5518G>C c.893G>C (p.Gly298Ala) c.251G>C (p.Gly84Ala) | |
19 | g.40605621G= | CA2336060100 | LTBP4 | c.659G= (p.Gly220=) c.749G= (p.Gly250=) c.860G= (p.Gly287=) n.428+5518G= c.893G= (p.Gly298=) c.251G= (p.Gly84=) | |
19 | g.40605621G>T | CA405933638 | LTBP4 | c.659G>T (p.Gly220Val) c.749G>T (p.Gly250Val) c.860G>T (p.Gly287Val) n.428+5518G>T c.893G>T (p.Gly298Val) c.251G>T (p.Gly84Val) | |
19 | g.40605622T>A | CA507684608 | LTBP4 | c.660T>A (p.Gly220=) c.750T>A (p.Gly250=) c.861T>A (p.Gly287=) n.428+5519T>A c.894T>A (p.Gly298=) c.252T>A (p.Gly84=) | |
19 | g.40605622T>C | CA507684609 | LTBP4 | c.660T>C (p.Gly220=) c.750T>C (p.Gly250=) c.861T>C (p.Gly287=) n.428+5519T>C c.894T>C (p.Gly298=) c.252T>C (p.Gly84=) | |
19 | g.40605622T>G | CA507684610 | LTBP4 | c.660T>G (p.Gly220=) c.750T>G (p.Gly250=) c.861T>G (p.Gly287=) n.428+5519T>G c.894T>G (p.Gly298=) c.252T>G (p.Gly84=) | |
19 | g.40605623T>A | CA405933641 | LTBP4 | c.661T>A (p.Tyr221Asn) c.751T>A (p.Tyr251Asn) c.862T>A (p.Tyr288Asn) n.428+5520T>A c.895T>A (p.Tyr299Asn) c.253T>A (p.Tyr85Asn) | |
19 | g.40605623T>C | CA405933642 | LTBP4 | c.661T>C (p.Tyr221His) c.751T>C (p.Tyr251His) c.862T>C (p.Tyr288His) n.428+5520T>C c.895T>C (p.Tyr299His) c.253T>C (p.Tyr85His) | |
19 | g.40605623T>G | CA405933644 | LTBP4 | c.661T>G (p.Tyr221Asp) c.751T>G (p.Tyr251Asp) c.862T>G (p.Tyr288Asp) n.428+5520T>G c.895T>G (p.Tyr299Asp) c.253T>G (p.Tyr85Asp) | gnomAD v4 |
19 | g.40605624A>C | CA405933646 | LTBP4 | c.662A>C (p.Tyr221Ser) c.752A>C (p.Tyr251Ser) c.863A>C (p.Tyr288Ser) n.428+5521A>C c.896A>C (p.Tyr299Ser) c.254A>C (p.Tyr85Ser) | |
19 | g.40605624A>G | CA405933648 | LTBP4 | c.662A>G (p.Tyr221Cys) c.752A>G (p.Tyr251Cys) c.863A>G (p.Tyr288Cys) n.428+5521A>G c.896A>G (p.Tyr299Cys) c.254A>G (p.Tyr85Cys) | |
19 | g.40605624A>T | CA405933649 | LTBP4 | c.662A>T (p.Tyr221Phe) c.752A>T (p.Tyr251Phe) c.863A>T (p.Tyr288Phe) n.428+5521A>T c.896A>T (p.Tyr299Phe) c.254A>T (p.Tyr85Phe) | |
19 | g.40605625C>A | CA405933651 | LTBP4 | c.663C>A (p.Tyr221Ter) c.753C>A (p.Tyr251Ter) c.864C>A (p.Tyr288Ter) n.428+5522C>A c.897C>A (p.Tyr299Ter) c.255C>A (p.Tyr85Ter) | gnomAD v4 |
19 | g.40605625C= | CA2336060101 | LTBP4 | c.663C= (p.Tyr221=) c.753C= (p.Tyr251=) c.864C= (p.Tyr288=) n.428+5522C= c.897C= (p.Tyr299=) c.255C= (p.Tyr85=) | |
19 | g.40605625C>G | CA405933653 | LTBP4 | c.663C>G (p.Tyr221Ter) c.753C>G (p.Tyr251Ter) c.864C>G (p.Tyr288Ter) n.428+5522C>G c.897C>G (p.Tyr299Ter) c.255C>G (p.Tyr85Ter) | gnomAD v4 |
19 | g.40605625C>T | CA507684611 | LTBP4 | c.663C>T (p.Tyr221=) c.753C>T (p.Tyr251=) c.864C>T (p.Tyr288=) n.428+5522C>T c.897C>T (p.Tyr299=) c.255C>T (p.Tyr85=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.40605626T>A | CA405933655 | LTBP4 | c.664T>A (p.Cys222Ser) c.754T>A (p.Cys252Ser) c.865T>A (p.Cys289Ser) n.428+5523T>A c.898T>A (p.Cys300Ser) c.256T>A (p.Cys86Ser) | dbSNP |
19 | g.40605626T>C | CA405933658 | LTBP4 | c.664T>C (p.Cys222Arg) c.754T>C (p.Cys252Arg) c.865T>C (p.Cys289Arg) n.428+5523T>C c.898T>C (p.Cys300Arg) c.256T>C (p.Cys86Arg) | gnomAD v4 |
19 | g.40605626T>G | CA405933657 | LTBP4 | c.664T>G (p.Cys222Gly) c.754T>G (p.Cys252Gly) c.865T>G (p.Cys289Gly) n.428+5523T>G c.898T>G (p.Cys300Gly) c.256T>G (p.Cys86Gly) | |
19 | g.40605627G>A | CA405933660 | LTBP4 | c.665G>A (p.Cys222Tyr) c.755G>A (p.Cys252Tyr) c.866G>A (p.Cys289Tyr) n.428+5524G>A c.899G>A (p.Cys300Tyr) c.257G>A (p.Cys86Tyr) | gnomAD v4 |
19 | g.40605627G>C | CA405933662 | LTBP4 | c.665G>C (p.Cys222Ser) c.755G>C (p.Cys252Ser) c.866G>C (p.Cys289Ser) n.428+5524G>C c.899G>C (p.Cys300Ser) c.257G>C (p.Cys86Ser) | |
19 | g.40605627G= | CA2336060102 | LTBP4 | c.665G= (p.Cys222=) c.755G= (p.Cys252=) c.866G= (p.Cys289=) n.428+5524G= c.899G= (p.Cys300=) c.257G= (p.Cys86=) | |
19 | g.40605627G>T | CA9448086 | LTBP4 | c.665G>T (p.Cys222Phe) c.755G>T (p.Cys252Phe) c.866G>T (p.Cys289Phe) n.428+5524G>T c.899G>T (p.Cys300Phe) c.257G>T (p.Cys86Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.40605628C>A | CA405933664 | LTBP4 | c.666C>A (p.Cys222Ter) c.756C>A (p.Cys252Ter) c.867C>A (p.Cys289Ter) n.428+5525C>A c.900C>A (p.Cys300Ter) c.258C>A (p.Cys86Ter) | gnomAD v4 |
19 | g.40605628C>G | CA405933666 | LTBP4 | c.666C>G (p.Cys222Trp) c.756C>G (p.Cys252Trp) c.867C>G (p.Cys289Trp) n.428+5525C>G c.900C>G (p.Cys300Trp) c.258C>G (p.Cys86Trp) | |
19 | g.40605628C>T | CA507684612 | LTBP4 | c.666C>T (p.Cys222=) c.756C>T (p.Cys252=) c.867C>T (p.Cys289=) n.428+5525C>T c.900C>T (p.Cys300=) c.258C>T (p.Cys86=) | |
19 | g.40605629T>A | CA405933668 | LTBP4 | c.667T>A (p.Phe223Ile) c.757T>A (p.Phe253Ile) c.868T>A (p.Phe290Ile) n.428+5526T>A c.901T>A (p.Phe301Ile) c.259T>A (p.Phe87Ile) | |
19 | g.40605629T>C | CA405933670 | LTBP4 | c.667T>C (p.Phe223Leu) c.757T>C (p.Phe253Leu) c.868T>C (p.Phe290Leu) n.428+5526T>C c.901T>C (p.Phe301Leu) c.259T>C (p.Phe87Leu) | |
19 | g.40605629T>G | CA405933671 | LTBP4 | c.667T>G (p.Phe223Val) c.757T>G (p.Phe253Val) c.868T>G (p.Phe290Val) n.428+5526T>G c.901T>G (p.Phe301Val) c.259T>G (p.Phe87Val) | |
19 | g.40605630T>A | CA405933673 | LTBP4 | c.668T>A (p.Phe223Tyr) c.758T>A (p.Phe253Tyr) c.869T>A (p.Phe290Tyr) n.428+5527T>A c.902T>A (p.Phe301Tyr) c.260T>A (p.Phe87Tyr) | |
19 | g.40605630T>C | CA405933675 | LTBP4 | c.668T>C (p.Phe223Ser) c.758T>C (p.Phe253Ser) c.869T>C (p.Phe290Ser) n.428+5527T>C c.902T>C (p.Phe301Ser) c.260T>C (p.Phe87Ser) | |
19 | g.40605630T>G | CA405933677 | LTBP4 | c.668T>G (p.Phe223Cys) c.758T>G (p.Phe253Cys) c.869T>G (p.Phe290Cys) n.428+5527T>G c.902T>G (p.Phe301Cys) c.260T>G (p.Phe87Cys) | |
19 | g.40605631T>A | CA405933678 | LTBP4 | c.669T>A (p.Phe223Leu) c.759T>A (p.Phe253Leu) c.870T>A (p.Phe290Leu) n.428+5528T>A c.903T>A (p.Phe301Leu) c.261T>A (p.Phe87Leu) | |
19 | g.40605631T>C | CA507684613 | LTBP4 | c.669T>C (p.Phe223=) c.759T>C (p.Phe253=) c.870T>C (p.Phe290=) n.428+5528T>C c.903T>C (p.Phe301=) c.261T>C (p.Phe87=) | gnomAD v4 |
19 | g.40605631T>G | CA405933680 | LTBP4 | c.669T>G (p.Phe223Leu) c.759T>G (p.Phe253Leu) c.870T>G (p.Phe290Leu) n.428+5528T>G c.903T>G (p.Phe301Leu) c.261T>G (p.Phe87Leu) | |
19 | g.40605632C>A | CA507684614 | LTBP4 | c.670C>A (p.Arg224=) c.760C>A (p.Arg254=) c.871C>A (p.Arg291=) n.428+5529C>A c.904C>A (p.Arg302=) c.262C>A (p.Arg88=) | gnomAD v4 |
19 | g.40605632C>G | CA405933682 | LTBP4 | c.670C>G (p.Arg224Gly) c.760C>G (p.Arg254Gly) c.871C>G (p.Arg291Gly) n.428+5529C>G c.904C>G (p.Arg302Gly) c.262C>G (p.Arg88Gly) | gnomAD v4 |
19 | g.40605632C>T | CA405933684 | LTBP4 | c.670C>T (p.Arg224Trp) c.760C>T (p.Arg254Trp) c.871C>T (p.Arg291Trp) n.428+5529C>T c.904C>T (p.Arg302Trp) c.262C>T (p.Arg88Trp) | dbSNP |
19 | g.40605633G>A | CA405933686 | LTBP4 | c.671G>A (p.Arg224Gln) c.761G>A (p.Arg254Gln) c.872G>A (p.Arg291Gln) n.428+5530G>A c.905G>A (p.Arg302Gln) c.263G>A (p.Arg88Gln) | gnomAD v4 |
19 | g.40605633G>C | CA405933688 | LTBP4 | c.671G>C (p.Arg224Pro) c.761G>C (p.Arg254Pro) c.872G>C (p.Arg291Pro) n.428+5530G>C c.905G>C (p.Arg302Pro) c.263G>C (p.Arg88Pro) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.40605633G= | CA2336060103 | LTBP4 | c.671G= (p.Arg224=) c.761G= (p.Arg254=) c.872G= (p.Arg291=) n.428+5530G= c.905G= (p.Arg302=) c.263G= (p.Arg88=) | |
19 | g.40605633G>T | CA308447805 | LTBP4 | c.671G>T (p.Arg224Leu) c.761G>T (p.Arg254Leu) c.872G>T (p.Arg291Leu) n.428+5530G>T c.905G>T (p.Arg302Leu) c.263G>T (p.Arg88Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.40605634G>A | CA507684615 | LTBP4 | c.672G>A (p.Arg224=) c.762G>A (p.Arg254=) c.873G>A (p.Arg291=) n.428+5531G>A c.906G>A (p.Arg302=) c.264G>A (p.Arg88=) | dbSNP gnomAD v4 |
19 | g.40605634G>C | CA507684616 | LTBP4 | c.672G>C (p.Arg224=) c.762G>C (p.Arg254=) c.873G>C (p.Arg291=) n.428+5531G>C c.906G>C (p.Arg302=) c.264G>C (p.Arg88=) | |
19 | g.40605634G= | CA2336060104 | LTBP4 | c.672G= (p.Arg224=) c.762G= (p.Arg254=) c.873G= (p.Arg291=) n.428+5531G= c.906G= (p.Arg302=) c.264G= (p.Arg88=) | |
19 | g.40605634G>T | CA507684617 | LTBP4 | c.672G>T (p.Arg224=) c.762G>T (p.Arg254=) c.873G>T (p.Arg291=) n.428+5531G>T c.906G>T (p.Arg302=) c.264G>T (p.Arg88=) | gnomAD v4 |
19 | g.40605635G>A | CA9448087 | LTBP4 | c.673G>A (p.Glu225Lys) c.763G>A (p.Glu255Lys) c.874G>A (p.Glu292Lys) n.428+5532G>A c.907G>A (p.Glu303Lys) c.265G>A (p.Glu89Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.40605635G>C | CA405933691 | LTBP4 | c.673G>C (p.Glu225Gln) c.763G>C (p.Glu255Gln) c.874G>C (p.Glu292Gln) n.428+5532G>C c.907G>C (p.Glu303Gln) c.265G>C (p.Glu89Gln) | |
19 | g.40605635G= | CA2336060105 | LTBP4 | c.673G= (p.Glu225=) c.763G= (p.Glu255=) c.874G= (p.Glu292=) n.428+5532G= c.907G= (p.Glu303=) c.265G= (p.Glu89=) | |
19 | g.40605635G>T | CA405933692 | LTBP4 | c.673G>T (p.Glu225Ter) c.763G>T (p.Glu255Ter) c.874G>T (p.Glu292Ter) n.428+5532G>T c.907G>T (p.Glu303Ter) c.265G>T (p.Glu89Ter) | |
19 | g.40605636A>C | CA405933695 | LTBP4 | c.674A>C (p.Glu225Ala) c.764A>C (p.Glu255Ala) c.875A>C (p.Glu292Ala) n.428+5533A>C c.908A>C (p.Glu303Ala) c.266A>C (p.Glu89Ala) | |
19 | g.40605636A>G | CA405933696 | LTBP4 | c.674A>G (p.Glu225Gly) c.764A>G (p.Glu255Gly) c.875A>G (p.Glu292Gly) n.428+5533A>G c.908A>G (p.Glu303Gly) c.266A>G (p.Glu89Gly) | |
19 | g.40605636A>T | CA405933697 | LTBP4 | c.674A>T (p.Glu225Val) c.764A>T (p.Glu255Val) c.875A>T (p.Glu292Val) n.428+5533A>T c.908A>T (p.Glu303Val) c.266A>T (p.Glu89Val) | |
19 | g.40605637G>A | CA507684618 | LTBP4 | c.675G>A (p.Glu225=) c.765G>A (p.Glu255=) c.876G>A (p.Glu292=) n.428+5534G>A c.909G>A (p.Glu303=) c.267G>A (p.Glu89=) | gnomAD v4 |
19 | g.40605637G>C | CA405933699 | LTBP4 | c.675G>C (p.Glu225Asp) c.765G>C (p.Glu255Asp) c.876G>C (p.Glu292Asp) n.428+5534G>C c.909G>C (p.Glu303Asp) c.267G>C (p.Glu89Asp) | |
19 | g.40605637G>T | CA405933700 | LTBP4 | c.675G>T (p.Glu225Asp) c.765G>T (p.Glu255Asp) c.876G>T (p.Glu292Asp) n.428+5534G>T c.909G>T (p.Glu303Asp) c.267G>T (p.Glu89Asp) | |
19 | g.40605638C>A | CA405933703 | LTBP4 | c.676C>A (p.Leu226Met) c.766C>A (p.Leu256Met) c.877C>A (p.Leu293Met) n.428+5535C>A c.910C>A (p.Leu304Met) c.268C>A (p.Leu90Met) | gnomAD v4 |
19 | g.40605638C>G | CA405933702 | LTBP4 | c.676C>G (p.Leu226Val) c.766C>G (p.Leu256Val) c.877C>G (p.Leu293Val) n.428+5535C>G c.910C>G (p.Leu304Val) c.268C>G (p.Leu90Val) | |
19 | g.40605638C>T | CA507684619 | LTBP4 | c.676C>T (p.Leu226=) c.766C>T (p.Leu256=) c.877C>T (p.Leu293=) n.428+5535C>T c.910C>T (p.Leu304=) c.268C>T (p.Leu90=) | gnomAD v4 |
19 | g.40605639T>A | CA405933705 | LTBP4 | c.677T>A (p.Leu226Gln) c.767T>A (p.Leu256Gln) c.878T>A (p.Leu293Gln) n.428+5536T>A c.911T>A (p.Leu304Gln) c.269T>A (p.Leu90Gln) | |
19 | g.40605639T>C | CA405933706 | LTBP4 | c.677T>C (p.Leu226Pro) c.767T>C (p.Leu256Pro) c.878T>C (p.Leu293Pro) n.428+5536T>C c.911T>C (p.Leu304Pro) c.269T>C (p.Leu90Pro) | |
19 | g.40605639T>G | CA405933708 | LTBP4 | c.677T>G (p.Leu226Arg) c.767T>G (p.Leu256Arg) c.878T>G (p.Leu293Arg) n.428+5536T>G c.911T>G (p.Leu304Arg) c.269T>G (p.Leu90Arg) | |
19 | g.40605640G>A | CA507684620 | LTBP4 | c.678G>A (p.Leu226=) c.768G>A (p.Leu256=) c.879G>A (p.Leu293=) n.428+5537G>A c.912G>A (p.Leu304=) c.270G>A (p.Leu90=) | gnomAD v4 |
19 | g.40605640G>C | CA507684621 | LTBP4 | c.678G>C (p.Leu226=) c.768G>C (p.Leu256=) c.879G>C (p.Leu293=) n.428+5537G>C c.912G>C (p.Leu304=) c.270G>C (p.Leu90=) | |
19 | g.40605640G>T | CA507684622 | LTBP4 | c.678G>T (p.Leu226=) c.768G>T (p.Leu256=) c.879G>T (p.Leu293=) n.428+5537G>T c.912G>T (p.Leu304=) c.270G>T (p.Leu90=) | gnomAD v4 |
19 | g.40605641C>A | CA405933709 | LTBP4 | c.679C>A (p.Arg227Ser) c.769C>A (p.Arg257Ser) c.880C>A (p.Arg294Ser) n.428+5538C>A c.913C>A (p.Arg305Ser) c.271C>A (p.Arg91Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.40605641C= | CA2336060106 | LTBP4 | c.679C= (p.Arg227=) c.769C= (p.Arg257=) c.880C= (p.Arg294=) n.428+5538C= c.913C= (p.Arg305=) c.271C= (p.Arg91=) | |
19 | g.40605641C>G | CA405933712 | LTBP4 | c.679C>G (p.Arg227Gly) c.769C>G (p.Arg257Gly) c.880C>G (p.Arg294Gly) n.428+5538C>G c.913C>G (p.Arg305Gly) c.271C>G (p.Arg91Gly) | |
19 | g.40605641C>T | CA308447822 | LTBP4 | c.679C>T (p.Arg227Cys) c.769C>T (p.Arg257Cys) c.880C>T (p.Arg294Cys) n.428+5538C>T c.913C>T (p.Arg305Cys) c.271C>T (p.Arg91Cys) | dbSNP gnomAD v4 |
19 | g.40605642G>A | CA405933714 | LTBP4 | c.680G>A (p.Arg227His) c.770G>A (p.Arg257His) c.881G>A (p.Arg294His) n.428+5539G>A c.914G>A (p.Arg305His) c.272G>A (p.Arg91His) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.40605642G>C | CA405933715 | LTBP4 | c.680G>C (p.Arg227Pro) c.770G>C (p.Arg257Pro) c.881G>C (p.Arg294Pro) n.428+5539G>C c.914G>C (p.Arg305Pro) c.272G>C (p.Arg91Pro) | |
19 | g.40605642G= | CA2336060107 | LTBP4 | c.680G= (p.Arg227=) c.770G= (p.Arg257=) c.881G= (p.Arg294=) n.428+5539G= c.914G= (p.Arg305=) c.272G= (p.Arg91=) | |
19 | g.40605642G>T | CA405933716 | LTBP4 | c.680G>T (p.Arg227Leu) c.770G>T (p.Arg257Leu) c.881G>T (p.Arg294Leu) n.428+5539G>T c.914G>T (p.Arg305Leu) c.272G>T (p.Arg91Leu) | gnomAD v4 |
19 | g.40605643C>A | CA507684623 | LTBP4 | c.681C>A (p.Arg227=) c.771C>A (p.Arg257=) c.882C>A (p.Arg294=) n.428+5540C>A c.915C>A (p.Arg305=) c.273C>A (p.Arg91=) | gnomAD v4 |
19 | g.40605643C= | CA2336060108 | LTBP4 | c.681C= (p.Arg227=) c.771C= (p.Arg257=) c.882C= (p.Arg294=) n.428+5540C= c.915C= (p.Arg305=) c.273C= (p.Arg91=) | |
19 | g.40605643C>G | CA507684625 | LTBP4 | c.681C>G (p.Arg227=) c.771C>G (p.Arg257=) c.882C>G (p.Arg294=) n.428+5540C>G c.915C>G (p.Arg305=) c.273C>G (p.Arg91=) | |
19 | g.40605643C>T | CA507684624 | LTBP4 | c.681C>T (p.Arg227=) c.771C>T (p.Arg257=) c.882C>T (p.Arg294=) n.428+5540C>T c.915C>T (p.Arg305=) c.273C>T (p.Arg91=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.40605644G>A | CA405933718 | LTBP4 | c.682G>A (p.Gly228Arg) c.772G>A (p.Gly258Arg) c.883G>A (p.Gly295Arg) n.428+5541G>A c.916G>A (p.Gly306Arg) c.274G>A (p.Gly92Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.40605644G>C | CA308447828 | LTBP4 | c.682G>C (p.Gly228Arg) c.772G>C (p.Gly258Arg) c.883G>C (p.Gly295Arg) n.428+5541G>C c.916G>C (p.Gly306Arg) c.274G>C (p.Gly92Arg) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.40605644G= | CA2336060109 | LTBP4 | c.682G= (p.Gly228=) c.772G= (p.Gly258=) c.883G= (p.Gly295=) n.428+5541G= c.916G= (p.Gly306=) c.274G= (p.Gly92=) | |
19 | g.40605644G>T | CA405933719 | LTBP4 | c.682G>T (p.Gly228Ter) c.772G>T (p.Gly258Ter) c.883G>T (p.Gly295Ter) n.428+5541G>T c.916G>T (p.Gly306Ter) c.274G>T (p.Gly92Ter) | gnomAD v4 |
19 | g.40605645G>A | CA405933722 | LTBP4 | c.683G>A (p.Gly228Glu) c.773G>A (p.Gly258Glu) c.884G>A (p.Gly295Glu) n.428+5542G>A c.917G>A (p.Gly306Glu) c.275G>A (p.Gly92Glu) | gnomAD v4 |
19 | g.40605645G>C | CA405933723 | LTBP4 | c.683G>C (p.Gly228Ala) c.773G>C (p.Gly258Ala) c.884G>C (p.Gly295Ala) n.428+5542G>C c.917G>C (p.Gly306Ala) c.275G>C (p.Gly92Ala) | |
19 | g.40605645G>T | CA405933721 | LTBP4 | c.683G>T (p.Gly228Val) c.773G>T (p.Gly258Val) c.884G>T (p.Gly295Val) n.428+5542G>T c.917G>T (p.Gly306Val) c.275G>T (p.Gly92Val) | gnomAD v4 |
19 | g.40605646A= | CA2336060110 | LTBP4 | c.684A= (p.Gly228=) c.774A= (p.Gly258=) c.885A= (p.Gly295=) n.428+5543A= c.918A= (p.Gly306=) c.276A= (p.Gly92=) | |
19 | g.40605646A>C | CA308447830 | LTBP4 | c.684A>C (p.Gly228=) c.774A>C (p.Gly258=) c.885A>C (p.Gly295=) n.428+5543A>C c.918A>C (p.Gly306=) c.276A>C (p.Gly92=) | dbSNP gnomAD v4 |
19 | g.40605646A>G | CA507684626 | LTBP4 | c.684A>G (p.Gly228=) c.774A>G (p.Gly258=) c.885A>G (p.Gly295=) n.428+5543A>G c.918A>G (p.Gly306=) c.276A>G (p.Gly92=) | gnomAD v4 |
19 | g.40605646A>T | CA507684627 | LTBP4 | c.684A>T (p.Gly228=) c.774A>T (p.Gly258=) c.885A>T (p.Gly295=) n.428+5543A>T c.918A>T (p.Gly306=) c.276A>T (p.Gly92=) | gnomAD v4 |
19 | g.40605647G>A | CA405933725 | LTBP4 | c.685G>A (p.Gly229Ser) c.775G>A (p.Gly259Ser) c.886G>A (p.Gly296Ser) n.428+5544G>A c.919G>A (p.Gly307Ser) c.277G>A (p.Gly93Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40605647G>C | CA405933727 | LTBP4 | c.685G>C (p.Gly229Arg) c.775G>C (p.Gly259Arg) c.886G>C (p.Gly296Arg) n.428+5544G>C c.919G>C (p.Gly307Arg) c.277G>C (p.Gly93Arg) | |
19 | g.40605647G= | CA2336060111 | LTBP4 | c.685G= (p.Gly229=) c.775G= (p.Gly259=) c.886G= (p.Gly296=) n.428+5544G= c.919G= (p.Gly307=) c.277G= (p.Gly93=) | |
19 | g.40605647G>T | CA405933728 | LTBP4 | c.685G>T (p.Gly229Cys) c.775G>T (p.Gly259Cys) c.886G>T (p.Gly296Cys) n.428+5544G>T c.919G>T (p.Gly307Cys) c.277G>T (p.Gly93Cys) | gnomAD v4 |
19 | g.40605648G>A | CA405933730 | LTBP4 | c.686G>A (p.Gly229Asp) c.776G>A (p.Gly259Asp) c.887G>A (p.Gly296Asp) n.428+5545G>A c.920G>A (p.Gly307Asp) c.278G>A (p.Gly93Asp) | gnomAD v4 |
19 | g.40605648G>C | CA405933731 | LTBP4 | c.686G>C (p.Gly229Ala) c.776G>C (p.Gly259Ala) c.887G>C (p.Gly296Ala) n.428+5545G>C c.920G>C (p.Gly307Ala) c.278G>C (p.Gly93Ala) | |
19 | g.40605648G>T | CA405933733 | LTBP4 | c.686G>T (p.Gly229Val) c.776G>T (p.Gly259Val) c.887G>T (p.Gly296Val) n.428+5545G>T c.920G>T (p.Gly307Val) c.278G>T (p.Gly93Val) | gnomAD v4 |
19 | g.40605649C>A | CA507684628 | LTBP4 | c.687C>A (p.Gly229=) c.777C>A (p.Gly259=) c.888C>A (p.Gly296=) n.428+5546C>A c.921C>A (p.Gly307=) c.279C>A (p.Gly93=) | gnomAD v4 |
19 | g.40605649C>G | CA507684629 | LTBP4 | c.687C>G (p.Gly229=) c.777C>G (p.Gly259=) c.888C>G (p.Gly296=) n.428+5546C>G c.921C>G (p.Gly307=) c.279C>G (p.Gly93=) | |
19 | g.40605649C>T | CA507684630 | LTBP4 | c.687C>T (p.Gly229=) c.777C>T (p.Gly259=) c.888C>T (p.Gly296=) n.428+5546C>T c.921C>T (p.Gly307=) c.279C>T (p.Gly93=) | |
19 | g.40605650G>A | CA405933734 | LTBP4 | c.688G>A (p.Glu230Lys) c.778G>A (p.Glu260Lys) c.889G>A (p.Glu297Lys) n.428+5547G>A c.922G>A (p.Glu308Lys) c.280G>A (p.Glu94Lys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.40605650G>C | CA405933736 | LTBP4 | c.688G>C (p.Glu230Gln) c.778G>C (p.Glu260Gln) c.889G>C (p.Glu297Gln) n.428+5547G>C c.922G>C (p.Glu308Gln) c.280G>C (p.Glu94Gln) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.40605650G= | CA2336060112 | LTBP4 | c.688G= (p.Glu230=) c.778G= (p.Glu260=) c.889G= (p.Glu297=) n.428+5547G= c.922G= (p.Glu308=) c.280G= (p.Glu94=) | |
19 | g.40605650G>T | CA405933735 | LTBP4 | c.688G>T (p.Glu230Ter) c.778G>T (p.Glu260Ter) c.889G>T (p.Glu297Ter) n.428+5547G>T c.922G>T (p.Glu308Ter) c.280G>T (p.Glu94Ter) | ClinVar gnomAD v4 |
19 | g.40605651A>C | CA405933737 | LTBP4 | c.689A>C (p.Glu230Ala) c.779A>C (p.Glu260Ala) c.890A>C (p.Glu297Ala) n.428+5548A>C c.923A>C (p.Glu308Ala) c.281A>C (p.Glu94Ala) | |
19 | g.40605651A>G | CA405933738 | LTBP4 | c.689A>G (p.Glu230Gly) c.779A>G (p.Glu260Gly) c.890A>G (p.Glu297Gly) n.428+5548A>G c.923A>G (p.Glu308Gly) c.281A>G (p.Glu94Gly) | |
19 | g.40605651A>T | CA405933739 | LTBP4 | c.689A>T (p.Glu230Val) c.779A>T (p.Glu260Val) c.890A>T (p.Glu297Val) n.428+5548A>T c.923A>T (p.Glu308Val) c.281A>T (p.Glu94Val) | |
19 | g.40605652A>C | CA405933741 | LTBP4 | c.690A>C (p.Glu230Asp) c.780A>C (p.Glu260Asp) c.891A>C (p.Glu297Asp) n.428+5549A>C c.924A>C (p.Glu308Asp) c.282A>C (p.Glu94Asp) | |
19 | g.40605652A>G | CA507684631 | LTBP4 | c.690A>G (p.Glu230=) c.780A>G (p.Glu260=) c.891A>G (p.Glu297=) n.428+5549A>G c.924A>G (p.Glu308=) c.282A>G (p.Glu94=) | gnomAD v4 |
19 | g.40605652A>T | CA405933742 | LTBP4 | c.690A>T (p.Glu230Asp) c.780A>T (p.Glu260Asp) c.891A>T (p.Glu297Asp) n.428+5549A>T c.924A>T (p.Glu308Asp) c.282A>T (p.Glu94Asp) | gnomAD v4 |
19 | g.40605653G>A | CA405933745 | LTBP4 | c.690+1G>A (n.690+1G>A) c.780+1G>A (n.780+1G>A) c.891+1G>A (n.891+1G>A) n.428+5550G>A c.924+1G>A (n.924+1G>A) c.282+1G>A (n.282+1G>A) | gnomAD v4 |
19 | g.40605653G>C | CA405933746 | LTBP4 | c.690+1G>C (n.690+1G>C) c.780+1G>C (n.780+1G>C) c.891+1G>C (n.891+1G>C) n.428+5550G>C c.924+1G>C (n.924+1G>C) c.282+1G>C (n.282+1G>C) | gnomAD v4 |
19 | g.40605653G>T | CA405933744 | LTBP4 | c.690+1G>T (n.690+1G>T) c.780+1G>T (n.780+1G>T) c.891+1G>T (n.891+1G>T) n.428+5550G>T c.924+1G>T (n.924+1G>T) c.282+1G>T (n.282+1G>T) | gnomAD v4 |
19 | g.40605654T>A | CA405933747 | LTBP4 | c.690+2T>A (n.690+2T>A) c.780+2T>A (n.780+2T>A) c.891+2T>A (n.891+2T>A) n.428+5551T>A c.924+2T>A (n.924+2T>A) c.282+2T>A (n.282+2T>A) | |
19 | g.40605654T>C | CA405933751 | LTBP4 | c.690+2T>C (n.690+2T>C) c.780+2T>C (n.780+2T>C) c.891+2T>C (n.891+2T>C) n.428+5551T>C c.924+2T>C (n.924+2T>C) c.282+2T>C (n.282+2T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.40605654T>G | CA405933749 | LTBP4 | c.690+2T>G (n.690+2T>G) c.780+2T>G (n.780+2T>G) c.891+2T>G (n.891+2T>G) n.428+5551T>G c.924+2T>G (n.924+2T>G) c.282+2T>G (n.282+2T>G) | |
19 | g.40605654T= | CA2336060113 | LTBP4 | c.690+2T= (n.690+2T=) c.780+2T= (n.780+2T=) c.891+2T= (n.891+2T=) n.428+5551T= c.924+2T= (n.924+2T=) c.282+2T= (n.282+2T=) | |
19 | g.40605655G>A | CA2576787751 | LTBP4 | c.690+3G>A (n.690+3G>A) c.780+3G>A (n.780+3G>A) c.891+3G>A (n.891+3G>A) n.428+5552G>A c.924+3G>A (n.924+3G>A) c.282+3G>A (n.282+3G>A) | gnomAD v4 |
19 | g.40605655G>T | CA2585156264 | LTBP4 | c.690+3G>T (n.690+3G>T) c.780+3G>T (n.780+3G>T) c.891+3G>T (n.891+3G>T) n.428+5552G>T c.924+3G>T (n.924+3G>T) c.282+3G>T (n.282+3G>T) | gnomAD v4 |
19 | g.40605658_40605659del | CA2585156263 | LTBP4 | c.690+6_690+7del (n.690+6_690+7del) c.780+6_780+7del (n.780+6_780+7del) c.891+6_891+7del (n.891+6_891+7del) n.428+5555_428+5556del c.924+6_924+7del (n.924+6_924+7del) c.282+6_282+7del (n.282+6_282+7del) | gnomAD v4 |
19 | g.40605656A>G | CA2585156265 | LTBP4 | c.690+4A>G (n.690+4A>G) c.780+4A>G (n.780+4A>G) c.891+4A>G (n.891+4A>G) n.428+5553A>G c.924+4A>G (n.924+4A>G) c.282+4A>G (n.282+4A>G) | gnomAD v4 |
19 | g.40605657G>T | CA2585156267 | LTBP4 | c.690+5G>T (n.690+5G>T) c.780+5G>T (n.780+5G>T) c.891+5G>T (n.891+5G>T) n.428+5554G>T c.924+5G>T (n.924+5G>T) c.282+5G>T (n.282+5G>T) | gnomAD v4 |
19 | g.40605661_40605663del | CA2585156266 | LTBP4 | c.690+9_690+11del (n.690+9_690+11del) c.780+9_780+11del (n.780+9_780+11del) c.891+9_891+11del (n.891+9_891+11del) n.428+5558_428+5560del c.924+9_924+11del (n.924+9_924+11del) c.282+9_282+11del (n.282+9_282+11del) | gnomAD v4 |
19 | g.40605658A= | CA2336060114 | LTBP4 | c.690+6A= (n.690+6A=) c.780+6A= (n.780+6A=) c.891+6A= (n.891+6A=) n.428+5555A= c.924+6A= (n.924+6A=) c.282+6A= (n.282+6A=) | |
19 | g.40605658A>C | CA882257914 | LTBP4 | c.690+6A>C (n.690+6A>C) c.780+6A>C (n.780+6A>C) c.891+6A>C (n.891+6A>C) n.428+5555A>C c.924+6A>C (n.924+6A>C) c.282+6A>C (n.282+6A>C) | dbSNP gnomAD v4 |
19 | g.40605658A>G | CA633466918 | LTBP4 | c.690+6A>G (n.690+6A>G) c.780+6A>G (n.780+6A>G) c.891+6A>G (n.891+6A>G) n.428+5555A>G c.924+6A>G (n.924+6A>G) c.282+6A>G (n.282+6A>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.40605659G>A | CA308447835 | LTBP4 | c.690+7G>A (n.690+7G>A) c.780+7G>A (n.780+7G>A) c.891+7G>A (n.891+7G>A) n.428+5556G>A c.924+7G>A (n.924+7G>A) c.282+7G>A (n.282+7G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40605659G>C | CA995924648 | LTBP4 | c.690+7G>C (n.690+7G>C) c.780+7G>C (n.780+7G>C) c.891+7G>C (n.891+7G>C) n.428+5556G>C c.924+7G>C (n.924+7G>C) c.282+7G>C (n.282+7G>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.40605659G= | CA2336060115 | LTBP4 | c.690+7G= (n.690+7G=) c.780+7G= (n.780+7G=) c.891+7G= (n.891+7G=) n.428+5556G= c.924+7G= (n.924+7G=) c.282+7G= (n.282+7G=) | |
19 | g.40605660G>A | CA2585156268 | LTBP4 | c.690+8G>A (n.690+8G>A) c.780+8G>A (n.780+8G>A) c.891+8G>A (n.891+8G>A) n.428+5557G>A c.924+8G>A (n.924+8G>A) c.282+8G>A (n.282+8G>A) | gnomAD v4 |
19 | g.40605661A= | CA2336060116 | LTBP4 | c.690+9A= (n.690+9A=) c.780+9A= (n.780+9A=) c.891+9A= (n.891+9A=) n.428+5558A= c.924+9A= (n.924+9A=) c.282+9A= (n.282+9A=) | |
19 | g.40605661A>T | CA633466919 | LTBP4 | c.690+9A>T (n.690+9A>T) c.780+9A>T (n.780+9A>T) c.891+9A>T (n.891+9A>T) n.428+5558A>T c.924+9A>T (n.924+9A>T) c.282+9A>T (n.282+9A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40605662G>A | CA2585156269 | LTBP4 | c.690+10G>A (n.690+10G>A) c.780+10G>A (n.780+10G>A) c.891+10G>A (n.891+10G>A) n.428+5559G>A c.924+10G>A (n.924+10G>A) c.282+10G>A (n.282+10G>A) | gnomAD v4 |
19 | g.40605662G>T | CA2585156270 | LTBP4 | c.690+10G>T (n.690+10G>T) c.780+10G>T (n.780+10G>T) c.891+10G>T (n.891+10G>T) n.428+5559G>T c.924+10G>T (n.924+10G>T) c.282+10G>T (n.282+10G>T) | gnomAD v4 |
19 | g.40605663G>A | CA2585156271 | LTBP4 | c.690+11G>A (n.690+11G>A) c.780+11G>A (n.780+11G>A) c.891+11G>A (n.891+11G>A) n.428+5560G>A c.924+11G>A (n.924+11G>A) c.282+11G>A (n.282+11G>A) | gnomAD v4 |
19 | g.40605663G>T | CA2585156272 | LTBP4 | c.690+11G>T (n.690+11G>T) c.780+11G>T (n.780+11G>T) c.891+11G>T (n.891+11G>T) n.428+5560G>T c.924+11G>T (n.924+11G>T) c.282+11G>T (n.282+11G>T) | gnomAD v4 |
19 | g.40605664C= | CA2336060117 | LTBP4 | c.690+12C= (n.690+12C=) c.780+12C= (n.780+12C=) c.891+12C= (n.891+12C=) n.428+5561C= c.924+12C= (n.924+12C=) c.282+12C= (n.282+12C=) | |
19 | g.40605664C>T | CA2336060118 | LTBP4 | c.690+12C>T (n.690+12C>T) c.780+12C>T (n.780+12C>T) c.891+12C>T (n.891+12C>T) n.428+5561C>T c.924+12C>T (n.924+12C>T) c.282+12C>T (n.282+12C>T) | ClinVar dbSNP gnomAD v4 |
19 | g.40605665C>A | CA2585156273 | LTBP4 | c.690+13C>A (n.690+13C>A) c.780+13C>A (n.780+13C>A) c.891+13C>A (n.891+13C>A) n.428+5562C>A c.924+13C>A (n.924+13C>A) c.282+13C>A (n.282+13C>A) | gnomAD v4 |
19 | g.40605665C= | CA2336060119 | LTBP4 | c.690+13C= (n.690+13C=) c.780+13C= (n.780+13C=) c.891+13C= (n.891+13C=) n.428+5562C= c.924+13C= (n.924+13C=) c.282+13C= (n.282+13C=) | |
19 | g.40605665C>T | CA2336060120 | LTBP4 | c.690+13C>T (n.690+13C>T) c.780+13C>T (n.780+13C>T) c.891+13C>T (n.891+13C>T) n.428+5562C>T c.924+13C>T (n.924+13C>T) c.282+13C>T (n.282+13C>T) | dbSNP gnomAD v4 |
19 | g.40605666C>A | CA2576787752 | LTBP4 | c.690+14C>A (n.690+14C>A) c.780+14C>A (n.780+14C>A) c.891+14C>A (n.891+14C>A) n.428+5563C>A c.924+14C>A (n.924+14C>A) c.282+14C>A (n.282+14C>A) | gnomAD v4 |
19 | g.40605666C= | CA2336060121 | LTBP4 | c.690+14C= (n.690+14C=) c.780+14C= (n.780+14C=) c.891+14C= (n.891+14C=) n.428+5563C= c.924+14C= (n.924+14C=) c.282+14C= (n.282+14C=) | |
19 | g.40605666C>G | CA308447843 | LTBP4 | c.690+14C>G (n.690+14C>G) c.780+14C>G (n.780+14C>G) c.891+14C>G (n.891+14C>G) n.428+5563C>G c.924+14C>G (n.924+14C>G) c.282+14C>G (n.282+14C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40605666C>T | CA633466920 | LTBP4 | c.690+14C>T (n.690+14C>T) c.780+14C>T (n.780+14C>T) c.891+14C>T (n.891+14C>T) n.428+5563C>T c.924+14C>T (n.924+14C>T) c.282+14C>T (n.282+14C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40605667G>A | CA2585156274 | LTBP4 | c.690+15G>A (n.690+15G>A) c.780+15G>A (n.780+15G>A) c.891+15G>A (n.891+15G>A) n.428+5564G>A c.924+15G>A (n.924+15G>A) c.282+15G>A (n.282+15G>A) | gnomAD v4 |
19 | g.40605667G>T | CA2585156275 | LTBP4 | c.690+15G>T (n.690+15G>T) c.780+15G>T (n.780+15G>T) c.891+15G>T (n.891+15G>T) n.428+5564G>T c.924+15G>T (n.924+15G>T) c.282+15G>T (n.282+15G>T) | gnomAD v4 |
19 | g.40605668T= | CA2336060122 | LTBP4 | c.690+16T= (n.690+16T=) c.780+16T= (n.780+16T=) c.891+16T= (n.891+16T=) n.428+5565T= c.924+16T= (n.924+16T=) c.282+16T= (n.282+16T=) | |
19 | g.40605669G>A | CA2585156276 | LTBP4 | c.690+17G>A (n.690+17G>A) c.780+17G>A (n.780+17G>A) c.891+17G>A (n.891+17G>A) n.428+5566G>A c.924+17G>A (n.924+17G>A) c.282+17G>A (n.282+17G>A) | gnomAD v4 |
19 | g.40605669G>C | CA308447847 | LTBP4 | c.690+17G>C (n.690+17G>C) c.780+17G>C (n.780+17G>C) c.891+17G>C (n.891+17G>C) n.428+5566G>C c.924+17G>C (n.924+17G>C) c.282+17G>C (n.282+17G>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.40605669G= | CA2336060123 | LTBP4 | c.690+17G= (n.690+17G=) c.780+17G= (n.780+17G=) c.891+17G= (n.891+17G=) n.428+5566G= c.924+17G= (n.924+17G=) c.282+17G= (n.282+17G=) | |
19 | g.40605672dup | CA633466921 | LTBP4 | c.690+20dup (n.690+20dup) c.780+20dup (n.780+20dup) c.891+20dup (n.891+20dup) n.428+5569dup c.924+20dup (n.924+20dup) c.282+20dup (n.282+20dup) | dbSNP gnomAD v2 gnomAD v4 |