Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.96415988C= | CA1565411960 | PCSK1 | c.709+45G= (n.709+45G=) c.568+45G= (n.568+45G=) n.354+36336C= | |
5 | g.96415988C>T | CA561283449 | PCSK1 | c.709+45G>A (n.709+45G>A) c.568+45G>A (n.568+45G>A) n.354+36336C>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.96415989T>C | CA2674666391 | PCSK1 | c.709+44A>G (n.709+44A>G) c.568+44A>G (n.568+44A>G) n.354+36337T>C | gnomAD v4 |
5 | g.96415991C= | CA1565411961 | PCSK1 | c.709+42G= (n.709+42G=) c.568+42G= (n.568+42G=) n.354+36339C= | |
5 | g.96415991C>T | CA3350396 | PCSK1 | c.709+42G>A (n.709+42G>A) c.568+42G>A (n.568+42G>A) n.354+36339C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.96415992A= | CA1565411962 | PCSK1 | c.709+41T= (n.709+41T=) c.568+41T= (n.568+41T=) n.354+36340A= | |
5 | g.96415992A>T | CA1079021967 | PCSK1 | c.709+41T>A (n.709+41T>A) c.568+41T>A (n.568+41T>A) n.354+36340A>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.96415995T>C | CA2674666392 | PCSK1 | c.709+38A>G (n.709+38A>G) c.568+38A>G (n.568+38A>G) n.354+36343T>C | gnomAD v4 |
5 | g.96415996T>C | CA122918606 | PCSK1 | c.709+37A>G (n.709+37A>G) c.568+37A>G (n.568+37A>G) n.354+36344T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.96415996T>G | CA2578366187 | PCSK1 | c.709+37A>C (n.709+37A>C) c.568+37A>C (n.568+37A>C) n.354+36344T>G | |
5 | g.96415996T= | CA1565411963 | PCSK1 | c.709+37A= (n.709+37A=) c.568+37A= (n.568+37A=) n.354+36344T= | |
5 | g.96415997A>T | CA2578366188 | PCSK1 | c.709+36T>A (n.709+36T>A) c.568+36T>A (n.568+36T>A) n.354+36345A>T | gnomAD v4 |
5 | g.96416001del | CA2767554314 | PCSK1 | c.709+32del (n.709+32del) c.568+32del (n.568+32del) n.354+36349del | |
5 | g.96416001T>C | CA3350397 | PCSK1 | c.709+32A>G (n.709+32A>G) c.568+32A>G (n.568+32A>G) n.354+36349T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.96416001T>G | CA2578366189 | PCSK1 | c.709+32A>C (n.709+32A>C) c.568+32A>C (n.568+32A>C) n.354+36349T>G | |
5 | g.96416001T= | CA1565411964 | PCSK1 | c.709+32A= (n.709+32A=) c.568+32A= (n.568+32A=) n.354+36349T= | |
5 | g.96416002G>A | CA815887402 | PCSK1 | c.709+31C>T (n.709+31C>T) c.568+31C>T (n.568+31C>T) n.354+36350G>A | dbSNP gnomAD v4 |
5 | g.96416002G= | CA1565411965 | PCSK1 | c.709+31C= (n.709+31C=) c.568+31C= (n.568+31C=) n.354+36350G= | |
5 | g.96416002G>T | CA2674666393 | PCSK1 | c.709+31C>A (n.709+31C>A) c.568+31C>A (n.568+31C>A) n.354+36350G>T | gnomAD v4 |
5 | g.96416003C>T | CA2674666394 | PCSK1 | c.709+30G>A (n.709+30G>A) c.568+30G>A (n.568+30G>A) n.354+36351C>T | gnomAD v4 |
5 | g.96416004C>T | CA2674666395 | PCSK1 | c.709+29G>A (n.709+29G>A) c.568+29G>A (n.568+29G>A) n.354+36352C>T | gnomAD v4 |
5 | g.96416005A>G | CA2674666396 | PCSK1 | c.709+28T>C (n.709+28T>C) c.568+28T>C (n.568+28T>C) n.354+36353A>G | gnomAD v4 |
5 | g.96416006A>G | CA2674666397 | PCSK1 | c.709+27T>C (n.709+27T>C) c.568+27T>C (n.568+27T>C) n.354+36354A>G | gnomAD v4 |
5 | g.96416007G>T | CA2578366190 | PCSK1 | c.709+26C>A (n.709+26C>A) c.568+26C>A (n.568+26C>A) n.354+36355G>T | gnomAD v4 |
5 | g.96416008C= | CA1565411966 | PCSK1 | c.709+25G= (n.709+25G=) c.568+25G= (n.568+25G=) n.354+36356C= | |
5 | g.96416008C>T | CA1079021975 | PCSK1 | c.709+25G>A (n.709+25G>A) c.568+25G>A (n.568+25G>A) n.354+36356C>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.96416010A= | CA1565411967 | PCSK1 | c.709+23T= (n.709+23T=) c.568+23T= (n.568+23T=) n.354+36358A= | |
5 | g.96416010A>C | CA561283456 | PCSK1 | c.709+23T>G (n.709+23T>G) c.568+23T>G (n.568+23T>G) n.354+36358A>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.96416010A>G | CA1565411968 | PCSK1 | c.709+23T>C (n.709+23T>C) c.568+23T>C (n.568+23T>C) n.354+36358A>G | dbSNP gnomAD v4 |
5 | g.96416010A>T | CA2578366191 | PCSK1 | c.709+23T>A (n.709+23T>A) c.568+23T>A (n.568+23T>A) n.354+36358A>T | gnomAD v4 |
5 | g.96416011T>C | CA561283457 | PCSK1 | c.709+22A>G (n.709+22A>G) c.568+22A>G (n.568+22A>G) n.354+36359T>C | dbSNP gnomAD v2 gnomAD v4 |
5 | g.96416011T= | CA1565411969 | PCSK1 | c.709+22A= (n.709+22A=) c.568+22A= (n.568+22A=) n.354+36359T= | |
5 | g.96416012A>G | CA2674666398 | PCSK1 | c.709+21T>C (n.709+21T>C) c.568+21T>C (n.568+21T>C) n.354+36360A>G | gnomAD v4 |
5 | g.96416013G>C | CA2674666399 | PCSK1 | c.709+20C>G (n.709+20C>G) c.568+20C>G (n.568+20C>G) n.354+36361G>C | gnomAD v4 |
5 | g.96416013G>T | CA2674666400 | PCSK1 | c.709+20C>A (n.709+20C>A) c.568+20C>A (n.568+20C>A) n.354+36361G>T | gnomAD v4 |
5 | g.96416014G>A | CA2578366192 | PCSK1 | c.709+19C>T (n.709+19C>T) c.568+19C>T (n.568+19C>T) n.354+36362G>A | gnomAD v4 |
5 | g.96416014G>T | CA2674666401 | PCSK1 | c.709+19C>A (n.709+19C>A) c.568+19C>A (n.568+19C>A) n.354+36362G>T | gnomAD v4 |
5 | g.96416015G>A | CA2578366193 | PCSK1 | c.709+18C>T (n.709+18C>T) c.568+18C>T (n.568+18C>T) n.354+36363G>A | gnomAD v4 |
5 | g.96416015G>T | CA2674666402 | PCSK1 | c.709+18C>A (n.709+18C>A) c.568+18C>A (n.568+18C>A) n.354+36363G>T | gnomAD v4 |
5 | g.96416016A= | CA1565411970 | PCSK1 | c.709+17T= (n.709+17T=) c.568+17T= (n.568+17T=) n.354+36364A= | |
5 | g.96416016A>G | CA561283459 | PCSK1 | c.709+17T>C (n.709+17T>C) c.568+17T>C (n.568+17T>C) n.354+36364A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.96416016A>T | CA2674666403 | PCSK1 | c.709+17T>A (n.709+17T>A) c.568+17T>A (n.568+17T>A) n.354+36364A>T | gnomAD v4 |
5 | g.96416017C>T | CA2674666404 | PCSK1 | c.709+16G>A (n.709+16G>A) c.568+16G>A (n.568+16G>A) n.354+36365C>T | gnomAD v4 |
5 | g.96416019A= | CA1565411971 | PCSK1 | c.709+14T= (n.709+14T=) c.568+14T= (n.568+14T=) n.354+36367A= | |
5 | g.96416019A>G | CA815887419 | PCSK1 | c.709+14T>C (n.709+14T>C) c.568+14T>C (n.568+14T>C) n.354+36367A>G | dbSNP gnomAD v4 |
5 | g.96416020T>C | CA2674666405 | PCSK1 | c.709+13A>G (n.709+13A>G) c.568+13A>G (n.568+13A>G) n.354+36368T>C | gnomAD v4 |
5 | g.96416021C= | CA1565411973 | PCSK1 | c.709+12G= (n.709+12G=) c.568+12G= (n.568+12G=) n.354+36369C= | |
5 | g.96416021C>T | CA561283461 | PCSK1 | c.709+12G>A (n.709+12G>A) c.568+12G>A (n.568+12G>A) n.354+36369C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.96416022del | CA2578366194 | PCSK1 | c.709+12del (n.709+12del) c.568+12del (n.568+12del) n.354+36370del | |
5 | g.96416021_96416023delinsCCT | CA1565411972 | PCSK1 | c.709+10_709+12delinsAGG (n.709+10_709+12delinsAGG) c.568+10_568+12delinsAGG (n.568+10_568+12delinsAGG) n.354+36369_354+36371delinsCCT | |
5 | g.96416022C= | CA1565411974 | PCSK1 | c.709+11G= (n.709+11G=) c.568+11G= (n.568+11G=) n.354+36370C= | |
5 | g.96416022C>T | CA3350398 | PCSK1 | c.709+11G>A (n.709+11G>A) c.568+11G>A (n.568+11G>A) n.354+36370C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.96416024_96416025del | CA122918633 | PCSK1 | c.709+10_709+11del (n.709+10_709+11del) c.568+10_568+11del (n.568+10_568+11del) n.354+36372_354+36373del | dbSNP gnomAD v4 |
5 | g.96416026G>C | CA2674666406 | PCSK1 | c.709+7C>G (n.709+7C>G) c.568+7C>G (n.568+7C>G) n.354+36374G>C | gnomAD v4 |
5 | g.96416026G>T | CA2674666407 | PCSK1 | c.709+7C>A (n.709+7C>A) c.568+7C>A (n.568+7C>A) n.354+36374G>T | gnomAD v4 |
5 | g.96416030dup | CA2839053816 | PCSK1 | c.709+6dup (n.709+6dup) c.568+6dup (n.568+6dup) n.354+36378dup | |
5 | g.96416031A= | CA1565411975 | PCSK1 | c.709+2T= (n.709+2T=) c.568+2T= (n.568+2T=) n.354+36379A= | |
5 | g.96416031A>C | CA360482911 | PCSK1 | c.709+2T>G (n.709+2T>G) c.568+2T>G (n.568+2T>G) n.354+36379A>C | |
5 | g.96416031A>G | CA360482912 | PCSK1 | c.709+2T>C (n.709+2T>C) c.568+2T>C (n.568+2T>C) n.354+36379A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.96416031A>T | CA360482914 | PCSK1 | c.709+2T>A (n.709+2T>A) c.568+2T>A (n.568+2T>A) n.354+36379A>T | |
5 | g.96416032C>A | CA360482917 | PCSK1 | c.709+1G>T (n.709+1G>T) c.568+1G>T (n.568+1G>T) n.354+36380C>A | dbSNP |
5 | g.96416032C= | CA1565411976 | PCSK1 | c.709+1G= (n.709+1G=) c.568+1G= (n.568+1G=) n.354+36380C= | |
5 | g.96416032C>G | CA360482920 | PCSK1 | c.709+1G>C (n.709+1G>C) c.568+1G>C (n.568+1G>C) n.354+36380C>G | |
5 | g.96416032C>T | CA360482918 | PCSK1 | c.709+1G>A (n.709+1G>A) c.568+1G>A (n.568+1G>A) n.354+36380C>T | gnomAD v4 |
5 | g.96416033C>A | CA360482923 | PCSK1 | c.709G>T (p.Gly237Cys) c.568G>T (p.Gly190Cys) n.354+36381C>A | |
5 | g.96416033C= | CA1565411977 | PCSK1 | c.709G= (p.Gly237=) c.568G= (p.Gly190=) n.354+36381C= | |
5 | g.96416033C>G | CA360482924 | PCSK1 | c.709G>C (p.Gly237Arg) c.568G>C (p.Gly190Arg) n.354+36381C>G | |
5 | g.96416033C>T | CA360482926 | PCSK1 | c.709G>A (p.Gly237Ser) c.568G>A (p.Gly190Ser) n.354+36381C>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.96416034T>A | CA445496363 | PCSK1 | c.708A>T (p.Gly236=) c.567A>T (p.Gly189=) n.354+36382T>A | |
5 | g.96416034T>C | CA445496365 | PCSK1 | c.708A>G (p.Gly236=) c.567A>G (p.Gly189=) n.354+36382T>C | gnomAD v4 |
5 | g.96416034T>G | CA445496367 | PCSK1 | c.708A>C (p.Gly236=) c.567A>C (p.Gly189=) n.354+36382T>G | |
5 | g.96416035C>A | CA360482930 | PCSK1 | c.707G>T (p.Gly236Val) c.566G>T (p.Gly189Val) n.354+36383C>A | |
5 | g.96416035C>G | CA360482932 | PCSK1 | c.707G>C (p.Gly236Ala) c.566G>C (p.Gly189Ala) n.354+36383C>G | gnomAD v4 |
5 | g.96416035C>T | CA360482933 | PCSK1 | c.707G>A (p.Gly236Glu) c.566G>A (p.Gly189Glu) n.354+36383C>T | |
5 | g.96416036C>A | CA360482936 | PCSK1 | c.706G>T (p.Gly236Ter) c.565G>T (p.Gly189Ter) n.354+36384C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.96416036C= | CA1565411978 | PCSK1 | c.706G= (p.Gly236=) c.565G= (p.Gly189=) n.354+36384C= | |
5 | g.96416036C>G | CA360482938 | PCSK1 | c.706G>C (p.Gly236Arg) c.565G>C (p.Gly189Arg) n.354+36384C>G | |
5 | g.96416036C>T | CA360482940 | PCSK1 | c.706G>A (p.Gly236Arg) c.565G>A (p.Gly189Arg) n.354+36384C>T | |
5 | g.96416037A>C | CA445496380 | PCSK1 | c.705T>G (p.Val235=) c.564T>G (p.Val188=) n.354+36385A>C | gnomAD v4 |
5 | g.96416037A>G | CA445496383 | PCSK1 | c.705T>C (p.Val235=) c.564T>C (p.Val188=) n.354+36385A>G | |
5 | g.96416037A>T | CA445496385 | PCSK1 | c.705T>A (p.Val235=) c.564T>A (p.Val188=) n.354+36385A>T | |
5 | g.96416038A= | CA1565411979 | PCSK1 | c.704T= (p.Val235=) c.563T= (p.Val188=) n.354+36386A= | |
5 | g.96416038A>C | CA360482942 | PCSK1 | c.704T>G (p.Val235Gly) c.563T>G (p.Val188Gly) n.354+36386A>C | |
5 | g.96416038A>G | CA3350399 | PCSK1 | c.704T>C (p.Val235Ala) c.563T>C (p.Val188Ala) n.354+36386A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.96416038A>T | CA360482945 | PCSK1 | c.704T>A (p.Val235Asp) c.563T>A (p.Val188Asp) n.354+36386A>T | |
5 | g.96416039C>A | CA360482947 | PCSK1 | c.703G>T (p.Val235Phe) c.562G>T (p.Val188Phe) n.354+36387C>A | gnomAD v4 |
5 | g.96416039C>G | CA360482951 | PCSK1 | c.703G>C (p.Val235Leu) c.562G>C (p.Val188Leu) n.354+36387C>G | |
5 | g.96416039C>T | CA360482949 | PCSK1 | c.703G>A (p.Val235Ile) c.562G>A (p.Val188Ile) n.354+36387C>T | |
5 | g.96416040T>A | CA360482953 | PCSK1 | c.702A>T (p.Lys234Asn) c.561A>T (p.Lys187Asn) n.354+36388T>A | |
5 | g.96416040T>C | CA445496403 | PCSK1 | c.702A>G (p.Lys234=) c.561A>G (p.Lys187=) n.354+36388T>C | |
5 | g.96416040T>G | CA360482955 | PCSK1 | c.702A>C (p.Lys234Asn) c.561A>C (p.Lys187Asn) n.354+36388T>G | |
5 | g.96416041T>A | CA3350400 | PCSK1 | c.701A>T (p.Lys234Ile) c.560A>T (p.Lys187Ile) n.354+36389T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.96416041T>C | CA360482958 | PCSK1 | c.701A>G (p.Lys234Arg) c.560A>G (p.Lys187Arg) n.354+36389T>C | dbSNP |
5 | g.96416041T>G | CA122918648 | PCSK1 | c.701A>C (p.Lys234Thr) c.560A>C (p.Lys187Thr) n.354+36389T>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.96416041T= | CA1565411980 | PCSK1 | c.701A= (p.Lys234=) c.560A= (p.Lys187=) n.354+36389T= | |
5 | g.96416042T>A | CA360482961 | PCSK1 | c.700A>T (p.Lys234Ter) c.559A>T (p.Lys187Ter) n.354+36390T>A | |
5 | g.96416042T>C | CA229007 | PCSK1 | c.700A>G (p.Lys234Glu) c.559A>G (p.Lys187Glu) n.354+36390T>C | ClinVar dbSNP |
5 | g.96416042T>G | CA360482964 | PCSK1 | c.700A>C (p.Lys234Gln) c.559A>C (p.Lys187Gln) n.354+36390T>G | |
5 | g.96416042T= | CA1565411981 | PCSK1 | c.700A= (p.Lys234=) c.559A= (p.Lys187=) n.354+36390T= | |
5 | g.96416043G>A | CA445496424 | PCSK1 | c.699C>T (p.Ser233=) c.558C>T (p.Ser186=) n.354+36391G>A | |
5 | g.96416043G>C | CA445496426 | PCSK1 | c.699C>G (p.Ser233=) c.558C>G (p.Ser186=) n.354+36391G>C | |
5 | g.96416043G>T | CA445496429 | PCSK1 | c.699C>A (p.Ser233=) c.558C>A (p.Ser186=) n.354+36391G>T | gnomAD v4 |
5 | g.96416044G>A | CA360482967 | PCSK1 | c.698C>T (p.Ser233Phe) c.557C>T (p.Ser186Phe) n.354+36392G>A | |
5 | g.96416044G>C | CA360482968 | PCSK1 | c.698C>G (p.Ser233Cys) c.557C>G (p.Ser186Cys) n.354+36392G>C | |
5 | g.96416044G>T | CA360482969 | PCSK1 | c.698C>A (p.Ser233Tyr) c.557C>A (p.Ser186Tyr) n.354+36392G>T | gnomAD v4 |
5 | g.96416045A>C | CA360482970 | PCSK1 | c.697T>G (p.Ser233Ala) c.556T>G (p.Ser186Ala) n.354+36393A>C | |
5 | g.96416045A>G | CA360482972 | PCSK1 | c.697T>C (p.Ser233Pro) c.556T>C (p.Ser186Pro) n.354+36393A>G | |
5 | g.96416045A>T | CA360482974 | PCSK1 | c.697T>A (p.Ser233Thr) c.556T>A (p.Ser186Thr) n.354+36393A>T | |
5 | g.96416046A>C | CA360482976 | PCSK1 | c.696T>G (p.Asn232Lys) c.555T>G (p.Asn185Lys) n.354+36394A>C | |
5 | g.96416046A>G | CA445496444 | PCSK1 | c.696T>C (p.Asn232=) c.555T>C (p.Asn185=) n.354+36394A>G | gnomAD v4 |
5 | g.96416046A>T | CA360482978 | PCSK1 | c.696T>A (p.Asn232Lys) c.555T>A (p.Asn185Lys) n.354+36394A>T | COSMIC |
5 | g.96416047T>A | CA360482979 | PCSK1 | c.695A>T (p.Asn232Ile) c.554A>T (p.Asn185Ile) n.354+36395T>A | |
5 | g.96416047T>C | CA360482981 | PCSK1 | c.695A>G (p.Asn232Ser) c.554A>G (p.Asn185Ser) n.354+36395T>C | gnomAD v4 |
5 | g.96416047T>G | CA360482983 | PCSK1 | c.695A>C (p.Asn232Thr) c.554A>C (p.Asn185Thr) n.354+36395T>G | |
5 | g.96416048T>A | CA360482984 | PCSK1 | c.694A>T (p.Asn232Tyr) c.553A>T (p.Asn185Tyr) n.354+36396T>A | |
5 | g.96416048T>C | CA360482986 | PCSK1 | c.694A>G (p.Asn232Asp) c.553A>G (p.Asn185Asp) n.354+36396T>C | |
5 | g.96416048T>G | CA360482987 | PCSK1 | c.694A>C (p.Asn232His) c.553A>C (p.Asn185His) n.354+36396T>G | |
5 | g.96416049G>A | CA445496462 | PCSK1 | c.693C>T (p.Tyr231=) c.552C>T (p.Tyr184=) n.354+36397G>A | |
5 | g.96416049G>C | CA360482989 | PCSK1 | c.693C>G (p.Tyr231Ter) c.552C>G (p.Tyr184Ter) n.354+36397G>C | |
5 | g.96416049G>T | CA360482990 | PCSK1 | c.693C>A (p.Tyr231Ter) c.552C>A (p.Tyr184Ter) n.354+36397G>T | gnomAD v4 |
5 | g.96416050T>A | CA360482992 | PCSK1 | c.692A>T (p.Tyr231Phe) c.551A>T (p.Tyr184Phe) n.354+36398T>A | dbSNP gnomAD v3 gnomAD v4 |
5 | g.96416050T>C | CA3350401 | PCSK1 | c.692A>G (p.Tyr231Cys) c.551A>G (p.Tyr184Cys) n.354+36398T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.96416050T>G | CA360482995 | PCSK1 | c.692A>C (p.Tyr231Ser) c.551A>C (p.Tyr184Ser) n.354+36398T>G | |
5 | g.96416050T= | CA1565411982 | PCSK1 | c.692A= (p.Tyr231=) c.551A= (p.Tyr184=) n.354+36398T= | |
5 | g.96416051A= | CA1565411983 | PCSK1 | c.691T= (p.Tyr231=) c.550T= (p.Tyr184=) n.354+36399A= | |
5 | g.96416051A>C | CA360482997 | PCSK1 | c.691T>G (p.Tyr231Asp) c.550T>G (p.Tyr184Asp) n.354+36399A>C | |
5 | g.96416051A>G | CA360483001 | PCSK1 | c.691T>C (p.Tyr231His) c.550T>C (p.Tyr184His) n.354+36399A>G | dbSNP gnomAD v4 |
5 | g.96416051A>T | CA360482999 | PCSK1 | c.691T>A (p.Tyr231Asn) c.550T>A (p.Tyr184Asn) n.354+36399A>T | |
5 | g.96416052T>A | CA445496478 | PCSK1 | c.690A>T (p.Ala230=) c.549A>T (p.Ala183=) n.354+36400T>A | |
5 | g.96416052T>C | CA445496480 | PCSK1 | c.690A>G (p.Ala230=) c.549A>G (p.Ala183=) n.354+36400T>C | |
5 | g.96416052T>G | CA445496482 | PCSK1 | c.690A>C (p.Ala230=) c.549A>C (p.Ala183=) n.354+36400T>G | |
5 | g.96416053G>A | CA360483004 | PCSK1 | c.689C>T (p.Ala230Val) c.548C>T (p.Ala183Val) n.354+36401G>A | gnomAD v4 |
5 | g.96416053G>C | CA360483007 | PCSK1 | c.689C>G (p.Ala230Gly) c.548C>G (p.Ala183Gly) n.354+36401G>C | |
5 | g.96416053G>T | CA360483006 | PCSK1 | c.689C>A (p.Ala230Glu) c.548C>A (p.Ala183Glu) n.354+36401G>T | |
5 | g.96416054C>A | CA360483009 | PCSK1 | c.688G>T (p.Ala230Ser) c.547G>T (p.Ala183Ser) n.354+36402C>A | dbSNP gnomAD v3 gnomAD v4 |
5 | g.96416054C= | CA1565411984 | PCSK1 | c.688G= (p.Ala230=) c.547G= (p.Ala183=) n.354+36402C= | |
5 | g.96416054C>G | CA360483013 | PCSK1 | c.688G>C (p.Ala230Pro) c.547G>C (p.Ala183Pro) n.354+36402C>G | |
5 | g.96416054C>T | CA360483011 | PCSK1 | c.688G>A (p.Ala230Thr) c.547G>A (p.Ala183Thr) n.354+36402C>T | |
5 | g.96416055A>C | CA445496496 | PCSK1 | c.687T>G (p.Val229=) c.546T>G (p.Val182=) n.354+36403A>C | |
5 | g.96416055A>G | CA445496498 | PCSK1 | c.687T>C (p.Val229=) c.546T>C (p.Val182=) n.354+36403A>G | |
5 | g.96416055A>T | CA445496500 | PCSK1 | c.687T>A (p.Val229=) c.546T>A (p.Val182=) n.354+36403A>T | |
5 | g.96416056A>C | CA360483015 | PCSK1 | c.686T>G (p.Val229Gly) c.545T>G (p.Val182Gly) n.354+36404A>C | |
5 | g.96416056A>G | CA360483017 | PCSK1 | c.686T>C (p.Val229Ala) c.545T>C (p.Val182Ala) n.354+36404A>G | |
5 | g.96416056A>T | CA360483019 | PCSK1 | c.686T>A (p.Val229Asp) c.545T>A (p.Val182Asp) n.354+36404A>T | |
5 | g.96416057C>A | CA360483021 | PCSK1 | c.685G>T (p.Val229Phe) c.544G>T (p.Val182Phe) n.354+36405C>A | |
5 | g.96416057C= | CA1565411985 | PCSK1 | c.685G= (p.Val229=) c.544G= (p.Val182=) n.354+36405C= | |
5 | g.96416057C>G | CA360483024 | PCSK1 | c.685G>C (p.Val229Leu) c.544G>C (p.Val182Leu) n.354+36405C>G | |
5 | g.96416057C>T | CA3350402 | PCSK1 | c.685G>A (p.Val229Ile) c.544G>A (p.Val182Ile) n.354+36405C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.96416058T>A | CA445496514 | PCSK1 | c.684A>T (p.Gly228=) c.543A>T (p.Gly181=) n.354+36406T>A | |
5 | g.96416058T>C | CA445496516 | PCSK1 | c.684A>G (p.Gly228=) c.543A>G (p.Gly181=) n.354+36406T>C | |
5 | g.96416058T>G | CA445496519 | PCSK1 | c.684A>C (p.Gly228=) c.543A>C (p.Gly181=) n.354+36406T>G | |
5 | g.96416059C>A | CA3350403 | PCSK1 | c.683G>T (p.Gly228Val) c.542G>T (p.Gly181Val) n.354+36407C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.96416059C= | CA1565411986 | PCSK1 | c.683G= (p.Gly228=) c.542G= (p.Gly181=) n.354+36407C= | |
5 | g.96416059C>G | CA360483028 | PCSK1 | c.683G>C (p.Gly228Ala) c.542G>C (p.Gly181Ala) n.354+36407C>G | |
5 | g.96416059C>T | CA360483030 | PCSK1 | c.683G>A (p.Gly228Glu) c.542G>A (p.Gly181Glu) n.354+36407C>T | dbSNP |
5 | g.96416060C>A | CA360483032 | PCSK1 | c.682G>T (p.Gly228Ter) c.541G>T (p.Gly181Ter) n.354+36408C>A | |
5 | g.96416060C>G | CA360483034 | PCSK1 | c.682G>C (p.Gly228Arg) c.541G>C (p.Gly181Arg) n.354+36408C>G | |
5 | g.96416060C>T | CA360483036 | PCSK1 | c.682G>A (p.Gly228Arg) c.541G>A (p.Gly181Arg) n.354+36408C>T | |
5 | g.96416060_96416061delinsCA | CA1565411987 | PCSK1 | c.681_682delinsTG (p.Val227=) c.540_541delinsTG (p.Val180=) n.354+36408_354+36409delinsCA | |
5 | g.96416061A>C | CA445496535 | PCSK1 | c.681T>G (p.Val227=) c.540T>G (p.Val180=) n.354+36409A>C | |
5 | g.96416061A>G | CA445496539 | PCSK1 | c.681T>C (p.Val227=) c.540T>C (p.Val180=) n.354+36409A>G | |
5 | g.96416061A>T | CA445496537 | PCSK1 | c.681T>A (p.Val227=) c.540T>A (p.Val180=) n.354+36409A>T | |
5 | g.96416062del | CA815887488 | PCSK1 | c.681del (p.Gly228GlufsTer11) c.540del (p.Gly181GlufsTer11) n.354+36410del | dbSNP gnomAD v3 gnomAD v4 |
5 | g.96416062A= | CA1565411988 | PCSK1 | c.680T= (p.Val227=) c.539T= (p.Val180=) n.354+36410A= | |
5 | g.96416062A>C | CA360483038 | PCSK1 | c.680T>G (p.Val227Gly) c.539T>G (p.Val180Gly) n.354+36410A>C | |
5 | g.96416062A>G | CA360483041 | PCSK1 | c.680T>C (p.Val227Ala) c.539T>C (p.Val180Ala) n.354+36410A>G | dbSNP gnomAD v4 |
5 | g.96416062A>T | CA360483040 | PCSK1 | c.680T>A (p.Val227Asp) c.539T>A (p.Val180Asp) n.354+36410A>T | |
5 | g.96416063C>A | CA360483043 | PCSK1 | c.679G>T (p.Val227Phe) c.538G>T (p.Val180Phe) n.354+36411C>A | |
5 | g.96416063C= | CA1565411989 | PCSK1 | c.679G= (p.Val227=) c.538G= (p.Val180=) n.354+36411C= | |
5 | g.96416063C>G | CA360483045 | PCSK1 | c.679G>C (p.Val227Leu) c.538G>C (p.Val180Leu) n.354+36411C>G | |
5 | g.96416063C>T | CA360483046 | PCSK1 | c.679G>A (p.Val227Ile) c.538G>A (p.Val180Ile) n.354+36411C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
5 | g.96416066del | CA2695204706 | PCSK1 | c.679del (p.Val227LeufsTer12) c.538del (p.Val180LeufsTer12) n.354+36414del | |
5 | g.96416064C>A | CA445496554 | PCSK1 | c.678G>T (p.Gly226=) c.537G>T (p.Gly179=) n.354+36412C>A | dbSNP gnomAD v3 gnomAD v4 |
5 | g.96416064C= | CA1565411990 | PCSK1 | c.678G= (p.Gly226=) c.537G= (p.Gly179=) n.354+36412C= | |
5 | g.96416064C>G | CA445496558 | PCSK1 | c.678G>C (p.Gly226=) c.537G>C (p.Gly179=) n.354+36412C>G | dbSNP |
5 | g.96416064C>T | CA445496556 | PCSK1 | c.678G>A (p.Gly226=) c.537G>A (p.Gly179=) n.354+36412C>T | |
5 | g.96416065C>A | CA360483050 | PCSK1 | c.677G>T (p.Gly226Val) c.536G>T (p.Gly179Val) n.354+36413C>A | |
5 | g.96416065C>G | CA360483051 | PCSK1 | c.677G>C (p.Gly226Ala) c.536G>C (p.Gly179Ala) n.354+36413C>G | |
5 | g.96416065C>T | CA360483054 | PCSK1 | c.677G>A (p.Gly226Glu) c.536G>A (p.Gly179Glu) n.354+36413C>T | |
5 | g.96416066C>A | CA360483056 | PCSK1 | c.676G>T (p.Gly226Trp) c.535G>T (p.Gly179Trp) n.354+36414C>A | |
5 | g.96416066C= | CA1565411991 | PCSK1 | c.676G= (p.Gly226=) c.535G= (p.Gly179=) n.354+36414C= | |
5 | g.96416066C>G | CA360483058 | PCSK1 | c.676G>C (p.Gly226Arg) c.535G>C (p.Gly179Arg) n.354+36414C>G | gnomAD v4 |
5 | g.96416066C>T | CA3350404 | PCSK1 | c.676G>A (p.Gly226Arg) c.535G>A (p.Gly179Arg) n.354+36414C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.96416067G>A | CA3350405 | PCSK1 | c.675C>T (p.Cys225=) c.534C>T (p.Cys178=) n.354+36415G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.96416067G>C | CA360483065 | PCSK1 | c.675C>G (p.Cys225Trp) c.534C>G (p.Cys178Trp) n.354+36415G>C | |
5 | g.96416067G= | CA1565411992 | PCSK1 | c.675C= (p.Cys225=) c.534C= (p.Cys178=) n.354+36415G= | |
5 | g.96416067G>T | CA360483062 | PCSK1 | c.675C>A (p.Cys225Ter) c.534C>A (p.Cys178Ter) n.354+36415G>T | ClinVar dbSNP gnomAD v4 COSMIC |
5 | g.96416068C>A | CA360483068 | PCSK1 | c.674G>T (p.Cys225Phe) c.533G>T (p.Cys178Phe) n.354+36416C>A | |
5 | g.96416068C>G | CA360483069 | PCSK1 | c.674G>C (p.Cys225Ser) c.533G>C (p.Cys178Ser) n.354+36416C>G | |
5 | g.96416068C>T | CA360483071 | PCSK1 | c.674G>A (p.Cys225Tyr) c.533G>A (p.Cys178Tyr) n.354+36416C>T | gnomAD v4 |
5 | g.96416069A>C | CA360483073 | PCSK1 | c.673T>G (p.Cys225Gly) c.532T>G (p.Cys178Gly) n.354+36417A>C | |
5 | g.96416069A>G | CA360483075 | PCSK1 | c.673T>C (p.Cys225Arg) c.532T>C (p.Cys178Arg) n.354+36417A>G | gnomAD v4 |
5 | g.96416069A>T | CA360483076 | PCSK1 | c.673T>A (p.Cys225Ser) c.532T>A (p.Cys178Ser) n.354+36417A>T | |
5 | g.96416070T>A | CA360483079 | PCSK1 | c.672A>T (p.Lys224Asn) c.531A>T (p.Lys177Asn) n.354+36418T>A | |
5 | g.96416070T>C | CA445496606 | PCSK1 | c.672A>G (p.Lys224=) c.531A>G (p.Lys177=) n.354+36418T>C | |
5 | g.96416070T>G | CA360483081 | PCSK1 | c.672A>C (p.Lys224Asn) c.531A>C (p.Lys177Asn) n.354+36418T>G | |
5 | g.96416071T>A | CA360483083 | PCSK1 | c.671A>T (p.Lys224Ile) c.530A>T (p.Lys177Ile) n.354+36419T>A | |
5 | g.96416071T>C | CA360483085 | PCSK1 | c.671A>G (p.Lys224Arg) c.530A>G (p.Lys177Arg) n.354+36419T>C | |
5 | g.96416071T>G | CA360483087 | PCSK1 | c.671A>C (p.Lys224Thr) c.530A>C (p.Lys177Thr) n.354+36419T>G | |
5 | g.96416072T>A | CA360483090 | PCSK1 | c.670A>T (p.Lys224Ter) c.529A>T (p.Lys177Ter) n.354+36420T>A | gnomAD v4 |
5 | g.96416072T>C | CA360483092 | PCSK1 | c.670A>G (p.Lys224Glu) c.529A>G (p.Lys177Glu) n.354+36420T>C | |
5 | g.96416072T>G | CA360483089 | PCSK1 | c.670A>C (p.Lys224Gln) c.529A>C (p.Lys177Gln) n.354+36420T>G | |
5 | g.96416073G>A | CA445496620 | PCSK1 | c.669C>T (p.His223=) c.528C>T (p.His176=) n.354+36421G>A | |
5 | g.96416073G>C | CA360483094 | PCSK1 | c.669C>G (p.His223Gln) c.528C>G (p.His176Gln) n.354+36421G>C | |
5 | g.96416073G= | CA1565411993 | PCSK1 | c.669C= (p.His223=) c.528C= (p.His176=) n.354+36421G= | |
5 | g.96416073G>T | CA360483096 | PCSK1 | c.669C>A (p.His223Gln) c.528C>A (p.His176Gln) n.354+36421G>T | dbSNP |
5 | g.96416074T>A | CA360483098 | PCSK1 | c.668A>T (p.His223Leu) c.527A>T (p.His176Leu) n.354+36422T>A | |
5 | g.96416074T>C | CA360483099 | PCSK1 | c.668A>G (p.His223Arg) c.527A>G (p.His176Arg) n.354+36422T>C | |
5 | g.96416074T>G | CA360483101 | PCSK1 | c.668A>C (p.His223Pro) c.527A>C (p.His176Pro) n.354+36422T>G | |
5 | g.96416075G>A | CA360483106 | PCSK1 | c.667C>T (p.His223Tyr) c.526C>T (p.His176Tyr) n.354+36423G>A | gnomAD v4 |
5 | g.96416075G>C | CA122918740 | PCSK1 | c.667C>G (p.His223Asp) c.526C>G (p.His176Asp) n.354+36423G>C | dbSNP gnomAD v3 gnomAD v4 |
5 | g.96416075G= | CA1565411994 | PCSK1 | c.667C= (p.His223=) c.526C= (p.His176=) n.354+36423G= | |
5 | g.96416075G>T | CA360483104 | PCSK1 | c.667C>A (p.His223Asn) c.526C>A (p.His176Asn) n.354+36423G>T | |
5 | g.96416076A>C | CA360483109 | PCSK1 | c.666T>G (p.Asn222Lys) c.525T>G (p.Asn175Lys) n.354+36424A>C | |
5 | g.96416076A>G | CA445496638 | PCSK1 | c.666T>C (p.Asn222=) c.525T>C (p.Asn175=) n.354+36424A>G | |
5 | g.96416076A>T | CA360483111 | PCSK1 | c.666T>A (p.Asn222Lys) c.525T>A (p.Asn175Lys) n.354+36424A>T | |
5 | g.96416077T>A | CA360483113 | PCSK1 | c.665A>T (p.Asn222Ile) c.524A>T (p.Asn175Ile) n.354+36425T>A | |
5 | g.96416077T>C | CA360483116 | PCSK1 | c.665A>G (p.Asn222Ser) c.524A>G (p.Asn175Ser) n.354+36425T>C | |
5 | g.96416077T>G | CA360483118 | PCSK1 | c.665A>C (p.Asn222Thr) c.524A>C (p.Asn175Thr) n.354+36425T>G | |
5 | g.96416078T>A | CA360483124 | PCSK1 | c.664A>T (p.Asn222Tyr) c.523A>T (p.Asn175Tyr) n.354+36426T>A | |
5 | g.96416078T>C | CA360483123 | PCSK1 | c.664A>G (p.Asn222Asp) c.523A>G (p.Asn175Asp) n.354+36426T>C | |
5 | g.96416078T>G | CA360483121 | PCSK1 | c.664A>C (p.Asn222His) c.523A>C (p.Asn175His) n.354+36426T>G | |
5 | g.96416079A>C | CA360483127 | PCSK1 | c.663T>G (p.Asn221Lys) c.522T>G (p.Asn174Lys) n.354+36427A>C | |
5 | g.96416079A>G | CA445496653 | PCSK1 | c.663T>C (p.Asn221=) c.522T>C (p.Asn174=) n.354+36427A>G | |
5 | g.96416079A>T | CA360483129 | PCSK1 | c.663T>A (p.Asn221Lys) c.522T>A (p.Asn174Lys) n.354+36427A>T | |
5 | g.96416080T>A | CA360483131 | PCSK1 | c.662A>T (p.Asn221Ile) c.521A>T (p.Asn174Ile) n.354+36428T>A | |
5 | g.96416080T>C | CA360483133 | PCSK1 | c.662A>G (p.Asn221Ser) c.521A>G (p.Asn174Ser) n.354+36428T>C | |
5 | g.96416080T>G | CA360483135 | PCSK1 | c.662A>C (p.Asn221Thr) c.521A>C (p.Asn174Thr) n.354+36428T>G | |
5 | g.96416082dup | CA2839169850 | PCSK1 | c.662dup (p.Asn221LysfsTer2) c.521dup (p.Asn174LysfsTer2) n.354+36430dup | |
5 | g.96416081T>A | CA360483136 | PCSK1 | c.661A>T (p.Asn221Tyr) c.520A>T (p.Asn174Tyr) n.354+36429T>A | |
5 | g.96416081T>C | CA128660 | PCSK1 | c.661A>G (p.Asn221Asp) c.520A>G (p.Asn174Asp) n.354+36429T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.96416081T>G | CA360483140 | PCSK1 | c.661A>C (p.Asn221His) c.520A>C (p.Asn174His) n.354+36429T>G | |
5 | g.96416081T= | CA1565411995 | PCSK1 | c.661A= (p.Asn221=) c.520A= (p.Asn174=) n.354+36429T= | |
5 | g.96416082T>A | CA445496674 | PCSK1 | c.660A>T (p.Ala220=) c.519A>T (p.Ala173=) n.354+36430T>A | |
5 | g.96416082T>C | CA445496676 | PCSK1 | c.660A>G (p.Ala220=) c.519A>G (p.Ala173=) n.354+36430T>C | gnomAD v4 |
5 | g.96416082T>G | CA445496679 | PCSK1 | c.660A>C (p.Ala220=) c.519A>C (p.Ala173=) n.354+36430T>G | |
5 | g.96416083G>A | CA360483143 | PCSK1 | c.659C>T (p.Ala220Val) c.518C>T (p.Ala173Val) n.354+36431G>A | |
5 | g.96416083G>C | CA360483145 | PCSK1 | c.659C>G (p.Ala220Gly) c.518C>G (p.Ala173Gly) n.354+36431G>C | |
5 | g.96416083G>T | CA360483147 | PCSK1 | c.659C>A (p.Ala220Glu) c.518C>A (p.Ala173Glu) n.354+36431G>T | |
5 | g.96416084C>A | CA360483150 | PCSK1 | c.658G>T (p.Ala220Ser) c.517G>T (p.Ala173Ser) n.354+36432C>A | |
5 | g.96416084C>G | CA360483151 | PCSK1 | c.658G>C (p.Ala220Pro) c.517G>C (p.Ala173Pro) n.354+36432C>G | |
5 | g.96416084C>T | CA360483153 | PCSK1 | c.658G>A (p.Ala220Thr) c.517G>A (p.Ala173Thr) n.354+36432C>T | |
5 | g.96416085T>A | CA360483158 | PCSK1 | c.657A>T (p.Gln219His) c.516A>T (p.Gln172His) n.354+36433T>A | |
5 | g.96416085T>C | CA445496696 | PCSK1 | c.657A>G (p.Gln219=) c.516A>G (p.Gln172=) n.354+36433T>C | |
5 | g.96416085T>G | CA360483155 | PCSK1 | c.657A>C (p.Gln219His) c.516A>C (p.Gln172His) n.354+36433T>G | |
5 | g.96416086T>A | CA360483160 | PCSK1 | c.656A>T (p.Gln219Leu) c.515A>T (p.Gln172Leu) n.354+36434T>A | |
5 | g.96416086T>C | CA360483163 | PCSK1 | c.656A>G (p.Gln219Arg) c.515A>G (p.Gln172Arg) n.354+36434T>C | |
5 | g.96416086T>G | CA360483164 | PCSK1 | c.656A>C (p.Gln219Pro) c.515A>C (p.Gln172Pro) n.354+36434T>G | |
5 | g.96416087G>A | CA360483167 | PCSK1 | c.655C>T (p.Gln219Ter) c.514C>T (p.Gln172Ter) n.354+36435G>A | |
5 | g.96416087G>C | CA360483168 | PCSK1 | c.655C>G (p.Gln219Glu) c.514C>G (p.Gln172Glu) n.354+36435G>C | |
5 | g.96416087G>T | CA360483171 | PCSK1 | c.655C>A (p.Gln219Lys) c.514C>A (p.Gln172Lys) n.354+36435G>T | |
5 | g.96416088C>A | CA360483173 | PCSK1 | c.654G>T (p.Met218Ile) c.513G>T (p.Met171Ile) n.354+36436C>A | |
5 | g.96416088C>G | CA360483175 | PCSK1 | c.654G>C (p.Met218Ile) c.513G>C (p.Met171Ile) n.354+36436C>G | |
5 | g.96416088C>T | CA360483177 | PCSK1 | c.654G>A (p.Met218Ile) c.513G>A (p.Met171Ile) n.354+36436C>T |